WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644611A= | CA1347664086 | BTD | c.695A= (p.Asp232=) c.399+2554A= (n.399+2554A=) c.165+2554A= (n.165+2554A=) c.755A= (p.Asp252=) c.761A= (p.Asp254=) c.473A= (p.Asp158=) c.*2473A= (n.*2473A=) | |
| 3 | g.15644611A>C | CA351607105 | BTD | c.695A>C (p.Asp232Ala) c.399+2554A>C (n.399+2554A>C) c.165+2554A>C (n.165+2554A>C) c.755A>C (p.Asp252Ala) c.761A>C (p.Asp254Ala) c.473A>C (p.Asp158Ala) c.*2473A>C (n.*2473A>C) | |
| 3 | g.15644611A>G | CA278012 | BTD | c.695A>G (p.Asp232Gly) c.399+2554A>G (n.399+2554A>G) c.165+2554A>G (n.165+2554A>G) c.755A>G (p.Asp252Gly) c.761A>G (p.Asp254Gly) c.473A>G (p.Asp158Gly) c.*2473A>G (n.*2473A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644611A>T | CA351607107 | BTD | c.695A>T (p.Asp232Val) c.399+2554A>T (n.399+2554A>T) c.165+2554A>T (n.165+2554A>T) c.755A>T (p.Asp252Val) c.761A>T (p.Asp254Val) c.473A>T (p.Asp158Val) c.*2473A>T (n.*2473A>T) | |
| 3 | g.15644612C>A | CA351607110 | BTD | c.696C>A (p.Asp232Glu) c.399+2555C>A (n.399+2555C>A) c.165+2555C>A (n.165+2555C>A) c.756C>A (p.Asp252Glu) c.762C>A (p.Asp254Glu) c.474C>A (p.Asp158Glu) c.*2474C>A (n.*2474C>A) | gnomAD v4 |
| 3 | g.15644612C= | CA1347664089 | BTD | c.696C= (p.Asp232=) c.399+2555C= (n.399+2555C=) c.165+2555C= (n.165+2555C=) c.756C= (p.Asp252=) c.762C= (p.Asp254=) c.474C= (p.Asp158=) c.*2474C= (n.*2474C=) | |
| 3 | g.15644612C>G | CA351607111 | BTD | c.696C>G (p.Asp232Glu) c.399+2555C>G (n.399+2555C>G) c.165+2555C>G (n.165+2555C>G) c.756C>G (p.Asp252Glu) c.762C>G (p.Asp254Glu) c.474C>G (p.Asp158Glu) c.*2474C>G (n.*2474C>G) | |
| 3 | g.15644612C>T | CA2277372 | BTD | c.696C>T (p.Asp232=) c.399+2555C>T (n.399+2555C>T) c.165+2555C>T (n.165+2555C>T) c.756C>T (p.Asp252=) c.762C>T (p.Asp254=) c.474C>T (p.Asp158=) c.*2474C>T (n.*2474C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644613C>A | CA351607114 | BTD | c.697C>A (p.Pro233Thr) c.399+2556C>A (n.399+2556C>A) c.165+2556C>A (n.165+2556C>A) c.757C>A (p.Pro253Thr) c.763C>A (p.Pro255Thr) c.475C>A (p.Pro159Thr) c.*2475C>A (n.*2475C>A) | |
| 3 | g.15644613C= | CA1347664092 | BTD | c.697C= (p.Pro233=) c.399+2556C= (n.399+2556C=) c.165+2556C= (n.165+2556C=) c.757C= (p.Pro253=) c.763C= (p.Pro255=) c.475C= (p.Pro159=) c.*2475C= (n.*2475C=) | |
| 3 | g.15644613C>G | CA351607115 | BTD | c.697C>G (p.Pro233Ala) c.399+2556C>G (n.399+2556C>G) c.165+2556C>G (n.165+2556C>G) c.757C>G (p.Pro253Ala) c.763C>G (p.Pro255Ala) c.475C>G (p.Pro159Ala) c.*2475C>G (n.*2475C>G) | |
| 3 | g.15644613C>T | CA278256 | BTD | c.697C>T (p.Pro233Ser) c.399+2556C>T (n.399+2556C>T) c.165+2556C>T (n.165+2556C>T) c.757C>T (p.Pro253Ser) c.763C>T (p.Pro255Ser) c.475C>T (p.Pro159Ser) c.*2475C>T (n.*2475C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644614C>A | CA351607119 | BTD | c.698C>A (p.Pro233His) c.399+2557C>A (n.399+2557C>A) c.165+2557C>A (n.165+2557C>A) c.758C>A (p.Pro253His) c.764C>A (p.Pro255His) c.476C>A (p.Pro159His) c.*2476C>A (n.*2476C>A) | |
| 3 | g.15644614C= | CA1347664097 | BTD | c.698C= (p.Pro233=) c.399+2557C= (n.399+2557C=) c.165+2557C= (n.165+2557C=) c.758C= (p.Pro253=) c.764C= (p.Pro255=) c.476C= (p.Pro159=) c.*2476C= (n.*2476C=) | |
| 3 | g.15644614C>G | CA351607120 | BTD | c.698C>G (p.Pro233Arg) c.399+2557C>G (n.399+2557C>G) c.165+2557C>G (n.165+2557C>G) c.758C>G (p.Pro253Arg) c.764C>G (p.Pro255Arg) c.476C>G (p.Pro159Arg) c.*2476C>G (n.*2476C>G) | |
| 3 | g.15644614C>T | CA278390 | BTD | c.698C>T (p.Pro233Leu) c.399+2557C>T (n.399+2557C>T) c.165+2557C>T (n.165+2557C>T) c.758C>T (p.Pro253Leu) c.764C>T (p.Pro255Leu) c.476C>T (p.Pro159Leu) c.*2476C>T (n.*2476C>T) | ClinVar dbSNP |
| 3 | g.15644615T>A | CA432819289 | BTD | c.699T>A (p.Pro233=) c.399+2558T>A (n.399+2558T>A) c.165+2558T>A (n.165+2558T>A) c.759T>A (p.Pro253=) c.765T>A (p.Pro255=) c.477T>A (p.Pro159=) c.*2477T>A (n.*2477T>A) | |
| 3 | g.15644615T>C | CA432819290 | BTD | c.699T>C (p.Pro233=) c.399+2558T>C (n.399+2558T>C) c.165+2558T>C (n.165+2558T>C) c.759T>C (p.Pro253=) c.765T>C (p.Pro255=) c.477T>C (p.Pro159=) c.*2477T>C (n.*2477T>C) | ClinVar |
| 3 | g.15644615T>G | CA432819292 | BTD | c.699T>G (p.Pro233=) c.399+2558T>G (n.399+2558T>G) c.165+2558T>G (n.165+2558T>G) c.759T>G (p.Pro253=) c.765T>G (p.Pro255=) c.477T>G (p.Pro159=) c.*2477T>G (n.*2477T>G) | |
| 3 | g.15644616G>A | CA2277373 | BTD | c.700G>A (p.Ala234Thr) c.399+2559G>A (n.399+2559G>A) c.165+2559G>A (n.165+2559G>A) c.760G>A (p.Ala254Thr) c.766G>A (p.Ala256Thr) c.478G>A (p.Ala160Thr) c.*2478G>A (n.*2478G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644616G>C | CA351607122 | BTD | c.700G>C (p.Ala234Pro) c.399+2559G>C (n.399+2559G>C) c.165+2559G>C (n.165+2559G>C) c.760G>C (p.Ala254Pro) c.766G>C (p.Ala256Pro) c.478G>C (p.Ala160Pro) c.*2478G>C (n.*2478G>C) | |
| 3 | g.15644616G= | CA1347664099 | BTD | c.700G= (p.Ala234=) c.399+2559G= (n.399+2559G=) c.165+2559G= (n.165+2559G=) c.760G= (p.Ala254=) c.766G= (p.Ala256=) c.478G= (p.Ala160=) c.*2478G= (n.*2478G=) | |
| 3 | g.15644616G>T | CA351607124 | BTD | c.700G>T (p.Ala234Ser) c.399+2559G>T (n.399+2559G>T) c.165+2559G>T (n.165+2559G>T) c.760G>T (p.Ala254Ser) c.766G>T (p.Ala256Ser) c.478G>T (p.Ala160Ser) c.*2478G>T (n.*2478G>T) | gnomAD v4 |
| 3 | g.15644617C>A | CA351607126 | BTD | c.701C>A (p.Ala234Asp) c.399+2560C>A (n.399+2560C>A) c.165+2560C>A (n.165+2560C>A) c.761C>A (p.Ala254Asp) c.767C>A (p.Ala256Asp) c.479C>A (p.Ala160Asp) c.*2479C>A (n.*2479C>A) | |
| 3 | g.15644617C= | CA1347664100 | BTD | c.701C= (p.Ala234=) c.399+2560C= (n.399+2560C=) c.165+2560C= (n.165+2560C=) c.761C= (p.Ala254=) c.767C= (p.Ala256=) c.479C= (p.Ala160=) c.*2479C= (n.*2479C=) | |
| 3 | g.15644617C>G | CA351607130 | BTD | c.701C>G (p.Ala234Gly) c.399+2560C>G (n.399+2560C>G) c.165+2560C>G (n.165+2560C>G) c.761C>G (p.Ala254Gly) c.767C>G (p.Ala256Gly) c.479C>G (p.Ala160Gly) c.*2479C>G (n.*2479C>G) | |
| 3 | g.15644617C>T | CA351607128 | BTD | c.701C>T (p.Ala234Val) c.399+2560C>T (n.399+2560C>T) c.165+2560C>T (n.165+2560C>T) c.761C>T (p.Ala254Val) c.767C>T (p.Ala256Val) c.479C>T (p.Ala160Val) c.*2479C>T (n.*2479C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644618C>A | CA432819300 | BTD | c.702C>A (p.Ala234=) c.399+2561C>A (n.399+2561C>A) c.165+2561C>A (n.165+2561C>A) c.762C>A (p.Ala254=) c.768C>A (p.Ala256=) c.480C>A (p.Ala160=) c.*2480C>A (n.*2480C>A) | |
| 3 | g.15644618C>G | CA432819301 | BTD | c.702C>G (p.Ala234=) c.399+2561C>G (n.399+2561C>G) c.165+2561C>G (n.165+2561C>G) c.762C>G (p.Ala254=) c.768C>G (p.Ala256=) c.480C>G (p.Ala160=) c.*2480C>G (n.*2480C>G) | |
| 3 | g.15644618C>T | CA432819302 | BTD | c.702C>T (p.Ala234=) c.399+2561C>T (n.399+2561C>T) c.165+2561C>T (n.165+2561C>T) c.762C>T (p.Ala254=) c.768C>T (p.Ala256=) c.480C>T (p.Ala160=) c.*2480C>T (n.*2480C>T) | |
| 3 | g.15644619A= | CA1347664105 | BTD | c.703A= (p.Ile235=) c.399+2562A= (n.399+2562A=) c.165+2562A= (n.165+2562A=) c.763A= (p.Ile255=) c.769A= (p.Ile257=) c.481A= (p.Ile161=) c.*2481A= (n.*2481A=) | |
| 3 | g.15644619A>C | CA351607132 | BTD | c.703A>C (p.Ile235Leu) c.399+2562A>C (n.399+2562A>C) c.165+2562A>C (n.165+2562A>C) c.763A>C (p.Ile255Leu) c.769A>C (p.Ile257Leu) c.481A>C (p.Ile161Leu) c.*2481A>C (n.*2481A>C) | gnomAD v4 |
| 3 | g.15644619A>G | CA351607133 | BTD | c.703A>G (p.Ile235Val) c.399+2562A>G (n.399+2562A>G) c.165+2562A>G (n.165+2562A>G) c.763A>G (p.Ile255Val) c.769A>G (p.Ile257Val) c.481A>G (p.Ile161Val) c.*2481A>G (n.*2481A>G) | dbSNP gnomAD v4 |
| 3 | g.15644619A>T | CA351607135 | BTD | c.703A>T (p.Ile235Phe) c.399+2562A>T (n.399+2562A>T) c.165+2562A>T (n.165+2562A>T) c.763A>T (p.Ile255Phe) c.769A>T (p.Ile257Phe) c.481A>T (p.Ile161Phe) c.*2481A>T (n.*2481A>T) | |
| 3 | g.15644620T>A | CA351607137 | BTD | c.704T>A (p.Ile235Asn) c.399+2563T>A (n.399+2563T>A) c.165+2563T>A (n.165+2563T>A) c.764T>A (p.Ile255Asn) c.770T>A (p.Ile257Asn) c.482T>A (p.Ile161Asn) c.*2482T>A (n.*2482T>A) | |
| 3 | g.15644620T>C | CA278258 | BTD | c.704T>C (p.Ile235Thr) c.399+2563T>C (n.399+2563T>C) c.165+2563T>C (n.165+2563T>C) c.764T>C (p.Ile255Thr) c.770T>C (p.Ile257Thr) c.482T>C (p.Ile161Thr) c.*2482T>C (n.*2482T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644620T>G | CA351607140 | BTD | c.704T>G (p.Ile235Ser) c.399+2563T>G (n.399+2563T>G) c.165+2563T>G (n.165+2563T>G) c.764T>G (p.Ile255Ser) c.770T>G (p.Ile257Ser) c.482T>G (p.Ile161Ser) c.*2482T>G (n.*2482T>G) | |
| 3 | g.15644620T= | CA1347664111 | BTD | c.704T= (p.Ile235=) c.399+2563T= (n.399+2563T=) c.165+2563T= (n.165+2563T=) c.764T= (p.Ile255=) c.770T= (p.Ile257=) c.482T= (p.Ile161=) c.*2482T= (n.*2482T=) | |
| 3 | g.15644621C>A | CA432819307 | BTD | c.705C>A (p.Ile235=) c.399+2564C>A (n.399+2564C>A) c.165+2564C>A (n.165+2564C>A) c.765C>A (p.Ile255=) c.771C>A (p.Ile257=) c.483C>A (p.Ile161=) c.*2483C>A (n.*2483C>A) | |
| 3 | g.15644621C= | CA1347664113 | BTD | c.705C= (p.Ile235=) c.399+2564C= (n.399+2564C=) c.165+2564C= (n.165+2564C=) c.765C= (p.Ile255=) c.771C= (p.Ile257=) c.483C= (p.Ile161=) c.*2483C= (n.*2483C=) | |
| 3 | g.15644621C>G | CA351607143 | BTD | c.705C>G (p.Ile235Met) c.399+2564C>G (n.399+2564C>G) c.165+2564C>G (n.165+2564C>G) c.765C>G (p.Ile255Met) c.771C>G (p.Ile257Met) c.483C>G (p.Ile161Met) c.*2483C>G (n.*2483C>G) | ClinVar dbSNP |
| 3 | g.15644621C>T | CA432819308 | BTD | c.705C>T (p.Ile235=) c.399+2564C>T (n.399+2564C>T) c.165+2564C>T (n.165+2564C>T) c.765C>T (p.Ile255=) c.771C>T (p.Ile257=) c.483C>T (p.Ile161=) c.*2483C>T (n.*2483C>T) | |
| 3 | g.15644622A= | CA1347664117 | BTD | c.706A= (p.Arg236=) c.399+2565A= (n.399+2565A=) c.165+2565A= (n.165+2565A=) c.766A= (p.Arg256=) c.772A= (p.Arg258=) c.484A= (p.Arg162=) c.*2484A= (n.*2484A=) | |
| 3 | g.15644622A>C | CA432819309 | BTD | c.706A>C (p.Arg236=) c.399+2565A>C (n.399+2565A>C) c.165+2565A>C (n.165+2565A>C) c.766A>C (p.Arg256=) c.772A>C (p.Arg258=) c.484A>C (p.Arg162=) c.*2484A>C (n.*2484A>C) | |
| 3 | g.15644622A>G | CA351607145 | BTD | c.706A>G (p.Arg236Gly) c.399+2565A>G (n.399+2565A>G) c.165+2565A>G (n.165+2565A>G) c.766A>G (p.Arg256Gly) c.772A>G (p.Arg258Gly) c.484A>G (p.Arg162Gly) c.*2484A>G (n.*2484A>G) | dbSNP gnomAD v2 |
| 3 | g.15644622A>T | CA351607147 | BTD | c.706A>T (p.Arg236Ter) c.399+2565A>T (n.399+2565A>T) c.165+2565A>T (n.165+2565A>T) c.766A>T (p.Arg256Ter) c.772A>T (p.Arg258Ter) c.484A>T (p.Arg162Ter) c.*2484A>T (n.*2484A>T) | |
| 3 | g.15644623G>A | CA351607148 | BTD | c.707G>A (p.Arg236Lys) c.399+2566G>A (n.399+2566G>A) c.165+2566G>A (n.165+2566G>A) c.767G>A (p.Arg256Lys) c.773G>A (p.Arg258Lys) c.485G>A (p.Arg162Lys) c.*2485G>A (n.*2485G>A) | |
| 3 | g.15644623G>C | CA351607150 | BTD | c.707G>C (p.Arg236Thr) c.399+2566G>C (n.399+2566G>C) c.165+2566G>C (n.165+2566G>C) c.767G>C (p.Arg256Thr) c.773G>C (p.Arg258Thr) c.485G>C (p.Arg162Thr) c.*2485G>C (n.*2485G>C) | |
| 3 | g.15644623G>T | CA351607152 | BTD | c.707G>T (p.Arg236Ile) c.399+2566G>T (n.399+2566G>T) c.165+2566G>T (n.165+2566G>T) c.767G>T (p.Arg256Ile) c.773G>T (p.Arg258Ile) c.485G>T (p.Arg162Ile) c.*2485G>T (n.*2485G>T) | |
| 3 | g.15644624A>C | CA351607156 | BTD | c.708A>C (p.Arg236Ser) c.399+2567A>C (n.399+2567A>C) c.165+2567A>C (n.165+2567A>C) c.768A>C (p.Arg256Ser) c.774A>C (p.Arg258Ser) c.486A>C (p.Arg162Ser) c.*2486A>C (n.*2486A>C) |