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 |
|---|---|---|---|---|---|
| 12 | g.116022577T>A | CA481933636 | MED13L | c.504A>T (p.Thr168=) c.474A>T (p.Thr158=) c.414A>T (p.Thr138=) n.268A>T | dbSNP |
| 12 | g.116022577T>C | CA6811649 | MED13L | c.504A>G (p.Thr168=) c.474A>G (p.Thr158=) c.414A>G (p.Thr138=) n.268A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.116022577T>G | CA481933637 | MED13L | c.504A>C (p.Thr168=) c.474A>C (p.Thr158=) c.414A>C (p.Thr138=) n.268A>C | |
| 12 | g.116022577T= | CA2065398791 | MED13L | c.504A= (p.Thr168=) c.474A= (p.Thr158=) c.414A= (p.Thr138=) n.268A= | |
| 12 | g.116022578G>A | CA386872484 | MED13L | c.503C>T (p.Thr168Ile) c.473C>T (p.Thr158Ile) c.413C>T (p.Thr138Ile) n.267C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.116022578G>C | CA386872486 | MED13L | c.503C>G (p.Thr168Arg) c.473C>G (p.Thr158Arg) c.413C>G (p.Thr138Arg) n.267C>G | |
| 12 | g.116022578G= | CA2065398801 | MED13L | c.503C= (p.Thr168=) c.473C= (p.Thr158=) c.413C= (p.Thr138=) n.267C= | |
| 12 | g.116022578G>T | CA386872482 | MED13L | c.503C>A (p.Thr168Lys) c.473C>A (p.Thr158Lys) c.413C>A (p.Thr138Lys) n.267C>A | |
| 12 | g.116022579T>A | CA386872488 | MED13L | c.502A>T (p.Thr168Ser) c.472A>T (p.Thr158Ser) c.412A>T (p.Thr138Ser) n.266A>T | |
| 12 | g.116022579T>C | CA386872490 | MED13L | c.502A>G (p.Thr168Ala) c.472A>G (p.Thr158Ala) c.412A>G (p.Thr138Ala) n.266A>G | |
| 12 | g.116022579T>G | CA386872492 | MED13L | c.502A>C (p.Thr168Pro) c.472A>C (p.Thr158Pro) c.412A>C (p.Thr138Pro) n.266A>C | |
| 12 | g.116022580G>A | CA481933638 | MED13L | c.501C>T (p.Phe167=) c.471C>T (p.Phe157=) c.411C>T (p.Phe137=) n.265C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.116022580G>C | CA386872494 | MED13L | c.501C>G (p.Phe167Leu) c.471C>G (p.Phe157Leu) c.411C>G (p.Phe137Leu) n.265C>G | |
| 12 | g.116022580G= | CA2065398811 | MED13L | c.501C= (p.Phe167=) c.471C= (p.Phe157=) c.411C= (p.Phe137=) n.265C= | |
| 12 | g.116022580G>T | CA386872495 | MED13L | c.501C>A (p.Phe167Leu) c.471C>A (p.Phe157Leu) c.411C>A (p.Phe137Leu) n.265C>A | |
| 12 | g.116022581A>C | CA386872502 | MED13L | c.500T>G (p.Phe167Cys) c.470T>G (p.Phe157Cys) c.410T>G (p.Phe137Cys) n.264T>G | |
| 12 | g.116022581A>G | CA386872500 | MED13L | c.500T>C (p.Phe167Ser) c.470T>C (p.Phe157Ser) c.410T>C (p.Phe137Ser) n.264T>C | |
| 12 | g.116022581A>T | CA386872498 | MED13L | c.500T>A (p.Phe167Tyr) c.470T>A (p.Phe157Tyr) c.410T>A (p.Phe137Tyr) n.264T>A | |
| 12 | g.116022583del | CA2695217459 | MED13L | c.500del (p.Phe167SerfsTer25) c.470del (p.Phe157SerfsTer25) c.410del (p.Phe137SerfsTer25) n.264del | |
| 12 | g.116022582A>C | CA386872504 | MED13L | c.499T>G (p.Phe167Val) c.469T>G (p.Phe157Val) c.409T>G (p.Phe137Val) n.263T>G | |
| 12 | g.116022582A>G | CA386872506 | MED13L | c.499T>C (p.Phe167Leu) c.469T>C (p.Phe157Leu) c.409T>C (p.Phe137Leu) n.263T>C | |
| 12 | g.116022582A>T | CA386872507 | MED13L | c.499T>A (p.Phe167Ile) c.469T>A (p.Phe157Ile) c.409T>A (p.Phe137Ile) n.263T>A | |
| 12 | g.116022583A>C | CA481933639 | MED13L | c.498T>G (p.Ala166=) c.468T>G (p.Ala156=) c.408T>G (p.Ala136=) n.262T>G | |
| 12 | g.116022583A>G | CA481933641 | MED13L | c.498T>C (p.Ala166=) c.468T>C (p.Ala156=) c.408T>C (p.Ala136=) n.262T>C | |
| 12 | g.116022583A>T | CA481933640 | MED13L | c.498T>A (p.Ala166=) c.468T>A (p.Ala156=) c.408T>A (p.Ala136=) n.262T>A | |
| 12 | g.116022584G>A | CA386872509 | MED13L | c.497C>T (p.Ala166Val) c.467C>T (p.Ala156Val) c.407C>T (p.Ala136Val) n.261C>T | |
| 12 | g.116022584G>C | CA386872511 | MED13L | c.497C>G (p.Ala166Gly) c.467C>G (p.Ala156Gly) c.407C>G (p.Ala136Gly) n.261C>G | |
| 12 | g.116022584G>T | CA386872513 | MED13L | c.497C>A (p.Ala166Asp) c.467C>A (p.Ala156Asp) c.407C>A (p.Ala136Asp) n.261C>A | |
| 12 | g.116022585C>A | CA386872515 | MED13L | c.496G>T (p.Ala166Ser) c.466G>T (p.Ala156Ser) c.406G>T (p.Ala136Ser) n.260G>T | |
| 12 | g.116022585C= | CA2065398819 | MED13L | c.496G= (p.Ala166=) c.466G= (p.Ala156=) c.406G= (p.Ala136=) n.260G= | |
| 12 | g.116022585C>G | CA386872518 | MED13L | c.496G>C (p.Ala166Pro) c.466G>C (p.Ala156Pro) c.406G>C (p.Ala136Pro) n.260G>C | |
| 12 | g.116022585C>T | CA244129821 | MED13L | c.496G>A (p.Ala166Thr) c.466G>A (p.Ala156Thr) c.406G>A (p.Ala136Thr) n.260G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.116022586A>C | CA386872520 | MED13L | c.495T>G (p.Cys165Trp) c.465T>G (p.Cys155Trp) c.405T>G (p.Cys135Trp) n.259T>G | |
| 12 | g.116022586A>G | CA481933642 | MED13L | c.495T>C (p.Cys165=) c.465T>C (p.Cys155=) c.405T>C (p.Cys135=) n.259T>C | |
| 12 | g.116022586A>T | CA386872522 | MED13L | c.495T>A (p.Cys165Ter) c.465T>A (p.Cys155Ter) c.405T>A (p.Cys135Ter) n.259T>A | |
| 12 | g.116022587C>A | CA386872524 | MED13L | c.494G>T (p.Cys165Phe) c.464G>T (p.Cys155Phe) c.404G>T (p.Cys135Phe) n.258G>T | |
| 12 | g.116022587C>G | CA386872526 | MED13L | c.494G>C (p.Cys165Ser) c.464G>C (p.Cys155Ser) c.404G>C (p.Cys135Ser) n.258G>C | |
| 12 | g.116022587C>T | CA386872529 | MED13L | c.494G>A (p.Cys165Tyr) c.464G>A (p.Cys155Tyr) c.404G>A (p.Cys135Tyr) n.258G>A | ClinVar |
| 12 | g.116022588A>C | CA386872531 | MED13L | c.493T>G (p.Cys165Gly) c.463T>G (p.Cys155Gly) c.403T>G (p.Cys135Gly) n.257T>G | |
| 12 | g.116022588A>G | CA386872533 | MED13L | c.493T>C (p.Cys165Arg) c.463T>C (p.Cys155Arg) c.403T>C (p.Cys135Arg) n.257T>C | gnomAD v4 |
| 12 | g.116022588A>T | CA386872535 | MED13L | c.493T>A (p.Cys165Ser) c.463T>A (p.Cys155Ser) c.403T>A (p.Cys135Ser) n.257T>A | |
| 12 | g.116022589G>A | CA481933643 | MED13L | c.492C>T (p.Ser164=) c.462C>T (p.Ser154=) c.402C>T (p.Ser134=) n.256C>T | |
| 12 | g.116022589G>C | CA481933644 | MED13L | c.492C>G (p.Ser164=) c.462C>G (p.Ser154=) c.402C>G (p.Ser134=) n.256C>G | |
| 12 | g.116022589G>T | CA481933645 | MED13L | c.492C>A (p.Ser164=) c.462C>A (p.Ser154=) c.402C>A (p.Ser134=) n.256C>A | |
| 12 | g.116022590G>A | CA386872537 | MED13L | c.491C>T (p.Ser164Phe) c.461C>T (p.Ser154Phe) c.401C>T (p.Ser134Phe) n.255C>T | |
| 12 | g.116022590G>C | CA386872539 | MED13L | c.491C>G (p.Ser164Cys) c.461C>G (p.Ser154Cys) c.401C>G (p.Ser134Cys) n.255C>G | |
| 12 | g.116022590G>T | CA386872541 | MED13L | c.491C>A (p.Ser164Tyr) c.461C>A (p.Ser154Tyr) c.401C>A (p.Ser134Tyr) n.255C>A | |
| 12 | g.116022591A>C | CA386872547 | MED13L | c.490T>G (p.Ser164Ala) c.460T>G (p.Ser154Ala) c.400T>G (p.Ser134Ala) n.254T>G | |
| 12 | g.116022591A>G | CA386872545 | MED13L | c.490T>C (p.Ser164Pro) c.460T>C (p.Ser154Pro) c.400T>C (p.Ser134Pro) n.254T>C | |
| 12 | g.116022591A>T | CA386872543 | MED13L | c.490T>A (p.Ser164Thr) c.460T>A (p.Ser154Thr) c.400T>A (p.Ser134Thr) n.254T>A | gnomAD v4 |