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.39830378G>A | CA507665213 | DYRK1B | c.369C>T (p.Gly123=) c.549C>T (p.Gly183=) | gnomAD v4 |
| 19 | g.39830378G>C | CA507665214 | DYRK1B | c.369C>G (p.Gly123=) c.549C>G (p.Gly183=) | |
| 19 | g.39830378G>T | CA507665215 | DYRK1B | c.369C>A (p.Gly123=) c.549C>A (p.Gly183=) | |
| 19 | g.39830379C>A | CA405828439 | DYRK1B | c.368G>T (p.Gly123Val) c.548G>T (p.Gly183Val) | |
| 19 | g.39830379C>G | CA405828440 | DYRK1B | c.368G>C (p.Gly123Ala) c.548G>C (p.Gly183Ala) | |
| 19 | g.39830379C>T | CA405828441 | DYRK1B | c.368G>A (p.Gly123Asp) c.548G>A (p.Gly183Asp) | |
| 19 | g.39830380C>A | CA405828444 | DYRK1B | c.367G>T (p.Gly123Cys) c.547G>T (p.Gly183Cys) | |
| 19 | g.39830380C>G | CA405828442 | DYRK1B | c.367G>C (p.Gly123Arg) c.547G>C (p.Gly183Arg) | |
| 19 | g.39830380C>T | CA405828443 | DYRK1B | c.367G>A (p.Gly123Ser) c.547G>A (p.Gly183Ser) | |
| 19 | g.39830381A>C | CA405828447 | DYRK1B | c.366T>G (p.Phe122Leu) c.546T>G (p.Phe182Leu) | |
| 19 | g.39830381A>G | CA507665221 | DYRK1B | c.366T>C (p.Phe122=) c.546T>C (p.Phe182=) | |
| 19 | g.39830381A>T | CA405828448 | DYRK1B | c.366T>A (p.Phe122Leu) c.546T>A (p.Phe182Leu) | |
| 19 | g.39830382A>C | CA405828449 | DYRK1B | c.365T>G (p.Phe122Cys) c.545T>G (p.Phe182Cys) | |
| 19 | g.39830382A>G | CA405828450 | DYRK1B | c.365T>C (p.Phe122Ser) c.545T>C (p.Phe182Ser) | |
| 19 | g.39830382A>T | CA405828452 | DYRK1B | c.365T>A (p.Phe122Tyr) c.545T>A (p.Phe182Tyr) | |
| 19 | g.39830383A>C | CA405828454 | DYRK1B | c.364T>G (p.Phe122Val) c.544T>G (p.Phe182Val) | |
| 19 | g.39830383A>G | CA405828458 | DYRK1B | c.364T>C (p.Phe122Leu) c.544T>C (p.Phe182Leu) | |
| 19 | g.39830383A>T | CA405828460 | DYRK1B | c.364T>A (p.Phe122Ile) c.544T>A (p.Phe182Ile) | |
| 19 | g.39830384G>A | CA507665225 | DYRK1B | c.363C>T (p.Ser121=) c.543C>T (p.Ser181=) | |
| 19 | g.39830384G>C | CA507665226 | DYRK1B | c.363C>G (p.Ser121=) c.543C>G (p.Ser181=) | |
| 19 | g.39830384G>T | CA507665227 | DYRK1B | c.363C>A (p.Ser121=) c.543C>A (p.Ser181=) | gnomAD v4 |
| 19 | g.39830385G>A | CA405828462 | DYRK1B | c.362C>T (p.Ser121Phe) c.542C>T (p.Ser181Phe) | COSMIC |
| 19 | g.39830385G>C | CA405828464 | DYRK1B | c.362C>G (p.Ser121Cys) c.542C>G (p.Ser181Cys) | |
| 19 | g.39830385G>T | CA405828466 | DYRK1B | c.362C>A (p.Ser121Tyr) c.542C>A (p.Ser181Tyr) | |
| 19 | g.39830386A>C | CA405828470 | DYRK1B | c.361T>G (p.Ser121Ala) c.541T>G (p.Ser181Ala) | |
| 19 | g.39830386A>G | CA405828471 | DYRK1B | c.361T>C (p.Ser121Pro) c.541T>C (p.Ser181Pro) | |
| 19 | g.39830386A>T | CA405828468 | DYRK1B | c.361T>A (p.Ser121Thr) c.541T>A (p.Ser181Thr) | |
| 19 | g.39830387G>A | CA9434358 | DYRK1B | c.360C>T (p.Gly120=) c.540C>T (p.Gly180=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.39830387G>C | CA507665228 | DYRK1B | c.360C>G (p.Gly120=) c.540C>G (p.Gly180=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.39830387G= | CA2335702640 | DYRK1B | c.360C= (p.Gly120=) c.540C= (p.Gly180=) | |
| 19 | g.39830387G>T | CA507665229 | DYRK1B | c.360C>A (p.Gly120=) c.540C>A (p.Gly180=) | |
| 19 | g.39830388C>A | CA405828475 | DYRK1B | c.359G>T (p.Gly120Val) c.539G>T (p.Gly180Val) | |
| 19 | g.39830388C= | CA2335702641 | DYRK1B | c.359G= (p.Gly120=) c.539G= (p.Gly180=) | |
| 19 | g.39830388C>G | CA405828477 | DYRK1B | c.359G>C (p.Gly120Ala) c.539G>C (p.Gly180Ala) | gnomAD v4 |
| 19 | g.39830388C>T | CA405828479 | DYRK1B | c.359G>A (p.Gly120Asp) c.539G>A (p.Gly180Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.39830389C>A | CA405828481 | DYRK1B | c.358G>T (p.Gly120Cys) c.538G>T (p.Gly180Cys) | COSMIC COSMIC |
| 19 | g.39830389C>G | CA405828482 | DYRK1B | c.358G>C (p.Gly120Arg) c.538G>C (p.Gly180Arg) | |
| 19 | g.39830389C>T | CA405828483 | DYRK1B | c.358G>A (p.Gly120Ser) c.538G>A (p.Gly180Ser) | |
| 19 | g.39830390T>A | CA405828485 | DYRK1B | c.357A>T (p.Lys119Asn) c.537A>T (p.Lys179Asn) | |
| 19 | g.39830390T>C | CA507665236 | DYRK1B | c.357A>G (p.Lys119=) c.537A>G (p.Lys179=) | |
| 19 | g.39830390T>G | CA405828487 | DYRK1B | c.357A>C (p.Lys119Asn) c.537A>C (p.Lys179Asn) | |
| 19 | g.39830391T>A | CA405828488 | DYRK1B | c.356A>T (p.Lys119Ile) c.536A>T (p.Lys179Ile) | |
| 19 | g.39830391T>C | CA405828490 | DYRK1B | c.356A>G (p.Lys119Arg) c.536A>G (p.Lys179Arg) | |
| 19 | g.39830391T>G | CA405828493 | DYRK1B | c.356A>C (p.Lys119Thr) c.536A>C (p.Lys179Thr) | |
| 19 | g.39830392T>A | CA405828497 | DYRK1B | c.355A>T (p.Lys119Ter) c.535A>T (p.Lys179Ter) | |
| 19 | g.39830392T>C | CA405828499 | DYRK1B | c.355A>G (p.Lys119Glu) c.535A>G (p.Lys179Glu) | |
| 19 | g.39830392T>G | CA405828495 | DYRK1B | c.355A>C (p.Lys119Gln) c.535A>C (p.Lys179Gln) | |
| 19 | g.39830393G>A | CA507665238 | DYRK1B | c.354C>T (p.Gly118=) c.534C>T (p.Gly178=) | |
| 19 | g.39830393G>C | CA507665239 | DYRK1B | c.354C>G (p.Gly118=) c.534C>G (p.Gly178=) | |
| 19 | g.39830393G>T | CA507665240 | DYRK1B | c.354C>A (p.Gly118=) c.534C>A (p.Gly178=) |