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.15644724G>A | CA2277388 | BTD | c.808G>A (p.Val270Ile) c.399+2667G>A (n.399+2667G>A) c.165+2667G>A (n.165+2667G>A) c.868G>A (p.Val290Ile) c.874G>A (p.Val292Ile) c.586G>A (p.Val196Ile) c.*2586G>A (n.*2586G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644724G>C | CA351607394 | BTD | c.808G>C (p.Val270Leu) c.399+2667G>C (n.399+2667G>C) c.165+2667G>C (n.165+2667G>C) c.868G>C (p.Val290Leu) c.874G>C (p.Val292Leu) c.586G>C (p.Val196Leu) c.*2586G>C (n.*2586G>C) | gnomAD v4 |
| 3 | g.15644724G= | CA1347664336 | BTD | c.808G= (p.Val270=) c.399+2667G= (n.399+2667G=) c.165+2667G= (n.165+2667G=) c.868G= (p.Val290=) c.874G= (p.Val292=) c.586G= (p.Val196=) c.*2586G= (n.*2586G=) | |
| 3 | g.15644724G>T | CA351607395 | BTD | c.808G>T (p.Val270Phe) c.399+2667G>T (n.399+2667G>T) c.165+2667G>T (n.165+2667G>T) c.868G>T (p.Val290Phe) c.874G>T (p.Val292Phe) c.586G>T (p.Val196Phe) c.*2586G>T (n.*2586G>T) | |
| 3 | g.15644725T>A | CA351607396 | BTD | c.809T>A (p.Val270Asp) c.399+2668T>A (n.399+2668T>A) c.165+2668T>A (n.165+2668T>A) c.869T>A (p.Val290Asp) c.875T>A (p.Val292Asp) c.587T>A (p.Val196Asp) c.*2587T>A (n.*2587T>A) | |
| 3 | g.15644725T>C | CA351607397 | BTD | c.809T>C (p.Val270Ala) c.399+2668T>C (n.399+2668T>C) c.165+2668T>C (n.165+2668T>C) c.869T>C (p.Val290Ala) c.875T>C (p.Val292Ala) c.587T>C (p.Val196Ala) c.*2587T>C (n.*2587T>C) | |
| 3 | g.15644725T>G | CA351607398 | BTD | c.809T>G (p.Val270Gly) c.399+2668T>G (n.399+2668T>G) c.165+2668T>G (n.165+2668T>G) c.869T>G (p.Val290Gly) c.875T>G (p.Val292Gly) c.587T>G (p.Val196Gly) c.*2587T>G (n.*2587T>G) | |
| 3 | g.15644726T>A | CA432819473 | BTD | c.810T>A (p.Val270=) c.399+2669T>A (n.399+2669T>A) c.165+2669T>A (n.165+2669T>A) c.870T>A (p.Val290=) c.876T>A (p.Val292=) c.588T>A (p.Val196=) c.*2588T>A (n.*2588T>A) | |
| 3 | g.15644726T>C | CA432819474 | BTD | c.810T>C (p.Val270=) c.399+2669T>C (n.399+2669T>C) c.165+2669T>C (n.165+2669T>C) c.870T>C (p.Val290=) c.876T>C (p.Val292=) c.588T>C (p.Val196=) c.*2588T>C (n.*2588T>C) | |
| 3 | g.15644726T>G | CA432819475 | BTD | c.810T>G (p.Val270=) c.399+2669T>G (n.399+2669T>G) c.165+2669T>G (n.165+2669T>G) c.870T>G (p.Val290=) c.876T>G (p.Val292=) c.588T>G (p.Val196=) c.*2588T>G (n.*2588T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644726T= | CA1347664340 | BTD | c.810T= (p.Val270=) c.399+2669T= (n.399+2669T=) c.165+2669T= (n.165+2669T=) c.870T= (p.Val290=) c.876T= (p.Val292=) c.588T= (p.Val196=) c.*2588T= (n.*2588T=) | |
| 3 | g.15644727G>A | CA351607399 | BTD | c.811G>A (p.Ala271Thr) c.399+2670G>A (n.399+2670G>A) c.165+2670G>A (n.165+2670G>A) c.871G>A (p.Ala291Thr) c.877G>A (p.Ala293Thr) c.589G>A (p.Ala197Thr) c.*2589G>A (n.*2589G>A) | |
| 3 | g.15644727G>C | CA351607400 | BTD | c.811G>C (p.Ala271Pro) c.399+2670G>C (n.399+2670G>C) c.165+2670G>C (n.165+2670G>C) c.871G>C (p.Ala291Pro) c.877G>C (p.Ala293Pro) c.589G>C (p.Ala197Pro) c.*2589G>C (n.*2589G>C) | |
| 3 | g.15644727G>T | CA351607401 | BTD | c.811G>T (p.Ala271Ser) c.399+2670G>T (n.399+2670G>T) c.165+2670G>T (n.165+2670G>T) c.871G>T (p.Ala291Ser) c.877G>T (p.Ala293Ser) c.589G>T (p.Ala197Ser) c.*2589G>T (n.*2589G>T) | |
| 3 | g.15644728C>A | CA351607402 | BTD | c.812C>A (p.Ala271Asp) c.399+2671C>A (n.399+2671C>A) c.165+2671C>A (n.165+2671C>A) c.872C>A (p.Ala291Asp) c.878C>A (p.Ala293Asp) c.590C>A (p.Ala197Asp) c.*2590C>A (n.*2590C>A) | dbSNP gnomAD v4 |
| 3 | g.15644728C= | CA1347664343 | BTD | c.812C= (p.Ala271=) c.399+2671C= (n.399+2671C=) c.165+2671C= (n.165+2671C=) c.872C= (p.Ala291=) c.878C= (p.Ala293=) c.590C= (p.Ala197=) c.*2590C= (n.*2590C=) | |
| 3 | g.15644728C>G | CA351607403 | BTD | c.812C>G (p.Ala271Gly) c.399+2671C>G (n.399+2671C>G) c.165+2671C>G (n.165+2671C>G) c.872C>G (p.Ala291Gly) c.878C>G (p.Ala293Gly) c.590C>G (p.Ala197Gly) c.*2590C>G (n.*2590C>G) | |
| 3 | g.15644728C>T | CA351607404 | BTD | c.812C>T (p.Ala271Val) c.399+2671C>T (n.399+2671C>T) c.165+2671C>T (n.165+2671C>T) c.872C>T (p.Ala291Val) c.878C>T (p.Ala293Val) c.590C>T (p.Ala197Val) c.*2590C>T (n.*2590C>T) | |
| 3 | g.15644729del | CA2664667153 | BTD | c.813del (p.Phe272LeufsTer17) c.399+2672del (n.399+2672del) c.165+2672del (n.165+2672del) c.873del (p.Phe292LeufsTer17) c.879del (p.Phe294LeufsTer17) c.591del (p.Phe198LeufsTer17) c.*2591del (n.*2591del) | gnomAD v4 |
| 3 | g.15644729C>A | CA432819477 | BTD | c.813C>A (p.Ala271=) c.399+2672C>A (n.399+2672C>A) c.165+2672C>A (n.165+2672C>A) c.873C>A (p.Ala291=) c.879C>A (p.Ala293=) c.591C>A (p.Ala197=) c.*2591C>A (n.*2591C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644729C= | CA1347664345 | BTD | c.813C= (p.Ala271=) c.399+2672C= (n.399+2672C=) c.165+2672C= (n.165+2672C=) c.873C= (p.Ala291=) c.879C= (p.Ala293=) c.591C= (p.Ala197=) c.*2591C= (n.*2591C=) | |
| 3 | g.15644729C>G | CA432819478 | BTD | c.813C>G (p.Ala271=) c.399+2672C>G (n.399+2672C>G) c.165+2672C>G (n.165+2672C>G) c.873C>G (p.Ala291=) c.879C>G (p.Ala293=) c.591C>G (p.Ala197=) c.*2591C>G (n.*2591C>G) | |
| 3 | g.15644729C>T | CA432819480 | BTD | c.813C>T (p.Ala271=) c.399+2672C>T (n.399+2672C>T) c.165+2672C>T (n.165+2672C>T) c.873C>T (p.Ala291=) c.879C>T (p.Ala293=) c.591C>T (p.Ala197=) c.*2591C>T (n.*2591C>T) | gnomAD v4 |
| 3 | g.15644730T>A | CA351607405 | BTD | c.814T>A (p.Phe272Ile) c.399+2673T>A (n.399+2673T>A) c.165+2673T>A (n.165+2673T>A) c.874T>A (p.Phe292Ile) c.880T>A (p.Phe294Ile) c.592T>A (p.Phe198Ile) c.*2592T>A (n.*2592T>A) | |
| 3 | g.15644730T>C | CA351607406 | BTD | c.814T>C (p.Phe272Leu) c.399+2673T>C (n.399+2673T>C) c.165+2673T>C (n.165+2673T>C) c.874T>C (p.Phe292Leu) c.880T>C (p.Phe294Leu) c.592T>C (p.Phe198Leu) c.*2592T>C (n.*2592T>C) | |
| 3 | g.15644730T>G | CA351607407 | BTD | c.814T>G (p.Phe272Val) c.399+2673T>G (n.399+2673T>G) c.165+2673T>G (n.165+2673T>G) c.874T>G (p.Phe292Val) c.880T>G (p.Phe294Val) c.592T>G (p.Phe198Val) c.*2592T>G (n.*2592T>G) | |
| 3 | g.15644731T>A | CA351607410 | BTD | c.815T>A (p.Phe272Tyr) c.399+2674T>A (n.399+2674T>A) c.165+2674T>A (n.165+2674T>A) c.875T>A (p.Phe292Tyr) c.881T>A (p.Phe294Tyr) c.593T>A (p.Phe198Tyr) c.*2593T>A (n.*2593T>A) | |
| 3 | g.15644731T>C | CA351607408 | BTD | c.815T>C (p.Phe272Ser) c.399+2674T>C (n.399+2674T>C) c.165+2674T>C (n.165+2674T>C) c.875T>C (p.Phe292Ser) c.881T>C (p.Phe294Ser) c.593T>C (p.Phe198Ser) c.*2593T>C (n.*2593T>C) | |
| 3 | g.15644731T>G | CA351607409 | BTD | c.815T>G (p.Phe272Cys) c.399+2674T>G (n.399+2674T>G) c.165+2674T>G (n.165+2674T>G) c.875T>G (p.Phe292Cys) c.881T>G (p.Phe294Cys) c.593T>G (p.Phe198Cys) c.*2593T>G (n.*2593T>G) | |
| 3 | g.15644732T>A | CA351607411 | BTD | c.816T>A (p.Phe272Leu) c.399+2675T>A (n.399+2675T>A) c.165+2675T>A (n.165+2675T>A) c.876T>A (p.Phe292Leu) c.882T>A (p.Phe294Leu) c.594T>A (p.Phe198Leu) c.*2594T>A (n.*2594T>A) | |
| 3 | g.15644732T>C | CA432819486 | BTD | c.816T>C (p.Phe272=) c.399+2675T>C (n.399+2675T>C) c.165+2675T>C (n.165+2675T>C) c.876T>C (p.Phe292=) c.882T>C (p.Phe294=) c.594T>C (p.Phe198=) c.*2594T>C (n.*2594T>C) | |
| 3 | g.15644732T>G | CA351607412 | BTD | c.816T>G (p.Phe272Leu) c.399+2675T>G (n.399+2675T>G) c.165+2675T>G (n.165+2675T>G) c.876T>G (p.Phe292Leu) c.882T>G (p.Phe294Leu) c.594T>G (p.Phe198Leu) c.*2594T>G (n.*2594T>G) | |
| 3 | g.15644733G>A | CA2277390 | BTD | c.817G>A (p.Gly273Ser) c.399+2676G>A (n.399+2676G>A) c.165+2676G>A (n.165+2676G>A) c.877G>A (p.Gly293Ser) c.883G>A (p.Gly295Ser) c.595G>A (p.Gly199Ser) c.*2595G>A (n.*2595G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644733G>C | CA2277389 | BTD | c.817G>C (p.Gly273Arg) c.399+2676G>C (n.399+2676G>C) c.165+2676G>C (n.165+2676G>C) c.877G>C (p.Gly293Arg) c.883G>C (p.Gly295Arg) c.595G>C (p.Gly199Arg) c.*2595G>C (n.*2595G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644733G= | CA1347664349 | BTD | c.817G= (p.Gly273=) c.399+2676G= (n.399+2676G=) c.165+2676G= (n.165+2676G=) c.877G= (p.Gly293=) c.883G= (p.Gly295=) c.595G= (p.Gly199=) c.*2595G= (n.*2595G=) | |
| 3 | g.15644733G>T | CA351607413 | BTD | c.817G>T (p.Gly273Cys) c.399+2676G>T (n.399+2676G>T) c.165+2676G>T (n.165+2676G>T) c.877G>T (p.Gly293Cys) c.883G>T (p.Gly295Cys) c.595G>T (p.Gly199Cys) c.*2595G>T (n.*2595G>T) | |
| 3 | g.15644734G>A | CA2277391 | BTD | c.818G>A (p.Gly273Asp) c.399+2677G>A (n.399+2677G>A) c.165+2677G>A (n.165+2677G>A) c.878G>A (p.Gly293Asp) c.884G>A (p.Gly295Asp) c.596G>A (p.Gly199Asp) c.*2596G>A (n.*2596G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644734G>C | CA351607414 | BTD | c.818G>C (p.Gly273Ala) c.399+2677G>C (n.399+2677G>C) c.165+2677G>C (n.165+2677G>C) c.878G>C (p.Gly293Ala) c.884G>C (p.Gly295Ala) c.596G>C (p.Gly199Ala) c.*2596G>C (n.*2596G>C) | dbSNP |
| 3 | g.15644734G= | CA1347664358 | BTD | c.818G= (p.Gly273=) c.399+2677G= (n.399+2677G=) c.165+2677G= (n.165+2677G=) c.878G= (p.Gly293=) c.884G= (p.Gly295=) c.596G= (p.Gly199=) c.*2596G= (n.*2596G=) | |
| 3 | g.15644734G>T | CA351607415 | BTD | c.818G>T (p.Gly273Val) c.399+2677G>T (n.399+2677G>T) c.165+2677G>T (n.165+2677G>T) c.878G>T (p.Gly293Val) c.884G>T (p.Gly295Val) c.596G>T (p.Gly199Val) c.*2596G>T (n.*2596G>T) | |
| 3 | g.15644735C>A | CA432819492 | BTD | c.819C>A (p.Gly273=) c.399+2678C>A (n.399+2678C>A) c.165+2678C>A (n.165+2678C>A) c.879C>A (p.Gly293=) c.885C>A (p.Gly295=) c.597C>A (p.Gly199=) c.*2597C>A (n.*2597C>A) | |
| 3 | g.15644735C>G | CA432819493 | BTD | c.819C>G (p.Gly273=) c.399+2678C>G (n.399+2678C>G) c.165+2678C>G (n.165+2678C>G) c.879C>G (p.Gly293=) c.885C>G (p.Gly295=) c.597C>G (p.Gly199=) c.*2597C>G (n.*2597C>G) | |
| 3 | g.15644735C>T | CA432819494 | BTD | c.819C>T (p.Gly273=) c.399+2678C>T (n.399+2678C>T) c.165+2678C>T (n.165+2678C>T) c.879C>T (p.Gly293=) c.885C>T (p.Gly295=) c.597C>T (p.Gly199=) c.*2597C>T (n.*2597C>T) | |
| 3 | g.15644736A= | CA1347664364 | BTD | c.820A= (p.Ile274=) c.399+2679A= (n.399+2679A=) c.165+2679A= (n.165+2679A=) c.880A= (p.Ile294=) c.886A= (p.Ile296=) c.598A= (p.Ile200=) c.*2598A= (n.*2598A=) | |
| 3 | g.15644736A>C | CA351607416 | BTD | c.820A>C (p.Ile274Leu) c.399+2679A>C (n.399+2679A>C) c.165+2679A>C (n.165+2679A>C) c.880A>C (p.Ile294Leu) c.886A>C (p.Ile296Leu) c.598A>C (p.Ile200Leu) c.*2598A>C (n.*2598A>C) | |
| 3 | g.15644736A>G | CA278270 | BTD | c.820A>G (p.Ile274Val) c.399+2679A>G (n.399+2679A>G) c.165+2679A>G (n.165+2679A>G) c.880A>G (p.Ile294Val) c.886A>G (p.Ile296Val) c.598A>G (p.Ile200Val) c.*2598A>G (n.*2598A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644736A>T | CA351607417 | BTD | c.820A>T (p.Ile274Phe) c.399+2679A>T (n.399+2679A>T) c.165+2679A>T (n.165+2679A>T) c.880A>T (p.Ile294Phe) c.886A>T (p.Ile296Phe) c.598A>T (p.Ile200Phe) c.*2598A>T (n.*2598A>T) | gnomAD v4 |
| 3 | g.15644737T>A | CA351607420 | BTD | c.821T>A (p.Ile274Asn) c.399+2680T>A (n.399+2680T>A) c.165+2680T>A (n.165+2680T>A) c.881T>A (p.Ile294Asn) c.887T>A (p.Ile296Asn) c.599T>A (p.Ile200Asn) c.*2599T>A (n.*2599T>A) | |
| 3 | g.15644737T>C | CA351607419 | BTD | c.821T>C (p.Ile274Thr) c.399+2680T>C (n.399+2680T>C) c.165+2680T>C (n.165+2680T>C) c.881T>C (p.Ile294Thr) c.887T>C (p.Ile296Thr) c.599T>C (p.Ile200Thr) c.*2599T>C (n.*2599T>C) | |
| 3 | g.15644737T>G | CA351607418 | BTD | c.821T>G (p.Ile274Ser) c.399+2680T>G (n.399+2680T>G) c.165+2680T>G (n.165+2680T>G) c.881T>G (p.Ile294Ser) c.887T>G (p.Ile296Ser) c.599T>G (p.Ile200Ser) c.*2599T>G (n.*2599T>G) |