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.15644420A>C | CA351606393 | BTD | c.504A>C (p.Lys168Asn) c.399+2363A>C (n.399+2363A>C) c.165+2363A>C (n.165+2363A>C) c.564A>C (p.Lys188Asn) c.570A>C (p.Lys190Asn) c.282A>C (p.Lys94Asn) c.*2282A>C (n.*2282A>C) | |
| 3 | g.15644420A>G | CA432819169 | BTD | c.504A>G (p.Lys168=) c.399+2363A>G (n.399+2363A>G) c.165+2363A>G (n.165+2363A>G) c.564A>G (p.Lys188=) c.570A>G (p.Lys190=) c.282A>G (p.Lys94=) c.*2282A>G (n.*2282A>G) | |
| 3 | g.15644420A>T | CA351606395 | BTD | c.504A>T (p.Lys168Asn) c.399+2363A>T (n.399+2363A>T) c.165+2363A>T (n.165+2363A>T) c.564A>T (p.Lys188Asn) c.570A>T (p.Lys190Asn) c.282A>T (p.Lys94Asn) c.*2282A>T (n.*2282A>T) | |
| 3 | g.15644421G>A | CA351606398 | BTD | c.505G>A (p.Asp169Asn) c.399+2364G>A (n.399+2364G>A) c.165+2364G>A (n.165+2364G>A) c.565G>A (p.Asp189Asn) c.571G>A (p.Asp191Asn) c.283G>A (p.Asp95Asn) c.*2283G>A (n.*2283G>A) | |
| 3 | g.15644421G>C | CA351606400 | BTD | c.505G>C (p.Asp169His) c.399+2364G>C (n.399+2364G>C) c.165+2364G>C (n.165+2364G>C) c.565G>C (p.Asp189His) c.571G>C (p.Asp191His) c.283G>C (p.Asp95His) c.*2283G>C (n.*2283G>C) | COSMIC |
| 3 | g.15644421G>T | CA351606401 | BTD | c.505G>T (p.Asp169Tyr) c.399+2364G>T (n.399+2364G>T) c.165+2364G>T (n.165+2364G>T) c.565G>T (p.Asp189Tyr) c.571G>T (p.Asp191Tyr) c.283G>T (p.Asp95Tyr) c.*2283G>T (n.*2283G>T) | |
| 3 | g.15644422A= | CA1347663632 | BTD | c.506A= (p.Asp169=) c.399+2365A= (n.399+2365A=) c.165+2365A= (n.165+2365A=) c.566A= (p.Asp189=) c.572A= (p.Asp191=) c.284A= (p.Asp95=) c.*2284A= (n.*2284A=) | |
| 3 | g.15644422A>C | CA351606404 | BTD | c.506A>C (p.Asp169Ala) c.399+2365A>C (n.399+2365A>C) c.165+2365A>C (n.165+2365A>C) c.566A>C (p.Asp189Ala) c.572A>C (p.Asp191Ala) c.284A>C (p.Asp95Ala) c.*2284A>C (n.*2284A>C) | |
| 3 | g.15644422A>G | CA70621563 | BTD | c.506A>G (p.Asp169Gly) c.399+2365A>G (n.399+2365A>G) c.165+2365A>G (n.165+2365A>G) c.566A>G (p.Asp189Gly) c.572A>G (p.Asp191Gly) c.284A>G (p.Asp95Gly) c.*2284A>G (n.*2284A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644422A>T | CA351606406 | BTD | c.506A>T (p.Asp169Val) c.399+2365A>T (n.399+2365A>T) c.165+2365A>T (n.165+2365A>T) c.566A>T (p.Asp189Val) c.572A>T (p.Asp191Val) c.284A>T (p.Asp95Val) c.*2284A>T (n.*2284A>T) | gnomAD v4 |
| 3 | g.15644423T>A | CA351606409 | BTD | c.507T>A (p.Asp169Glu) c.399+2366T>A (n.399+2366T>A) c.165+2366T>A (n.165+2366T>A) c.567T>A (p.Asp189Glu) c.573T>A (p.Asp191Glu) c.285T>A (p.Asp95Glu) c.*2285T>A (n.*2285T>A) | |
| 3 | g.15644423T>C | CA432819175 | BTD | c.507T>C (p.Asp169=) c.399+2366T>C (n.399+2366T>C) c.165+2366T>C (n.165+2366T>C) c.567T>C (p.Asp189=) c.573T>C (p.Asp191=) c.285T>C (p.Asp95=) c.*2285T>C (n.*2285T>C) | gnomAD v4 |
| 3 | g.15644423T>G | CA351606410 | BTD | c.507T>G (p.Asp169Glu) c.399+2366T>G (n.399+2366T>G) c.165+2366T>G (n.165+2366T>G) c.567T>G (p.Asp189Glu) c.573T>G (p.Asp191Glu) c.285T>G (p.Asp95Glu) c.*2285T>G (n.*2285T>G) | |
| 3 | g.15644424G>A | CA351606413 | BTD | c.508G>A (p.Gly170Arg) c.399+2367G>A (n.399+2367G>A) c.165+2367G>A (n.165+2367G>A) c.568G>A (p.Gly190Arg) c.574G>A (p.Gly192Arg) c.286G>A (p.Gly96Arg) c.*2286G>A (n.*2286G>A) | |
| 3 | g.15644424G>C | CA351606415 | BTD | c.508G>C (p.Gly170Arg) c.399+2367G>C (n.399+2367G>C) c.165+2367G>C (n.165+2367G>C) c.568G>C (p.Gly190Arg) c.574G>C (p.Gly192Arg) c.286G>C (p.Gly96Arg) c.*2286G>C (n.*2286G>C) | |
| 3 | g.15644424G>T | CA351606416 | BTD | c.508G>T (p.Gly170Trp) c.399+2367G>T (n.399+2367G>T) c.165+2367G>T (n.165+2367G>T) c.568G>T (p.Gly190Trp) c.574G>T (p.Gly192Trp) c.286G>T (p.Gly96Trp) c.*2286G>T (n.*2286G>T) | |
| 3 | g.15644425G>A | CA351606419 | BTD | c.509G>A (p.Gly170Glu) c.399+2368G>A (n.399+2368G>A) c.165+2368G>A (n.165+2368G>A) c.569G>A (p.Gly190Glu) c.575G>A (p.Gly192Glu) c.287G>A (p.Gly96Glu) c.*2287G>A (n.*2287G>A) | |
| 3 | g.15644425G>C | CA351606422 | BTD | c.509G>C (p.Gly170Ala) c.399+2368G>C (n.399+2368G>C) c.165+2368G>C (n.165+2368G>C) c.569G>C (p.Gly190Ala) c.575G>C (p.Gly192Ala) c.287G>C (p.Gly96Ala) c.*2287G>C (n.*2287G>C) | |
| 3 | g.15644425G>T | CA351606421 | BTD | c.509G>T (p.Gly170Val) c.399+2368G>T (n.399+2368G>T) c.165+2368G>T (n.165+2368G>T) c.569G>T (p.Gly190Val) c.575G>T (p.Gly192Val) c.287G>T (p.Gly96Val) c.*2287G>T (n.*2287G>T) | |
| 3 | g.15644426G>A | CA432819183 | BTD | c.510G>A (p.Gly170=) c.399+2369G>A (n.399+2369G>A) c.165+2369G>A (n.165+2369G>A) c.570G>A (p.Gly190=) c.576G>A (p.Gly192=) c.288G>A (p.Gly96=) c.*2288G>A (n.*2288G>A) | dbSNP gnomAD v2 |
| 3 | g.15644426G>C | CA432819186 | BTD | c.510G>C (p.Gly170=) c.399+2369G>C (n.399+2369G>C) c.165+2369G>C (n.165+2369G>C) c.570G>C (p.Gly190=) c.576G>C (p.Gly192=) c.288G>C (p.Gly96=) c.*2288G>C (n.*2288G>C) | |
| 3 | g.15644426G= | CA1347663635 | BTD | c.510G= (p.Gly170=) c.399+2369G= (n.399+2369G=) c.165+2369G= (n.165+2369G=) c.570G= (p.Gly190=) c.576G= (p.Gly192=) c.288G= (p.Gly96=) c.*2288G= (n.*2288G=) | |
| 3 | g.15644426G>T | CA432819184 | BTD | c.510G>T (p.Gly170=) c.399+2369G>T (n.399+2369G>T) c.165+2369G>T (n.165+2369G>T) c.570G>T (p.Gly190=) c.576G>T (p.Gly192=) c.288G>T (p.Gly96=) c.*2288G>T (n.*2288G>T) | |
| 3 | g.15644427A>C | CA432819193 | BTD | c.511A>C (p.Arg171=) c.399+2370A>C (n.399+2370A>C) c.165+2370A>C (n.165+2370A>C) c.571A>C (p.Arg191=) c.577A>C (p.Arg193=) c.289A>C (p.Arg97=) c.*2289A>C (n.*2289A>C) | |
| 3 | g.15644427A>G | CA351606425 | BTD | c.511A>G (p.Arg171Gly) c.399+2370A>G (n.399+2370A>G) c.165+2370A>G (n.165+2370A>G) c.571A>G (p.Arg191Gly) c.577A>G (p.Arg193Gly) c.289A>G (p.Arg97Gly) c.*2289A>G (n.*2289A>G) | |
| 3 | g.15644427A>T | CA351606427 | BTD | c.511A>T (p.Arg171Ter) c.399+2370A>T (n.399+2370A>T) c.165+2370A>T (n.165+2370A>T) c.571A>T (p.Arg191Ter) c.577A>T (p.Arg193Ter) c.289A>T (p.Arg97Ter) c.*2289A>T (n.*2289A>T) | |
| 3 | g.15644428G>A | CA351606429 | BTD | c.512G>A (p.Arg171Lys) c.399+2371G>A (n.399+2371G>A) c.165+2371G>A (n.165+2371G>A) c.572G>A (p.Arg191Lys) c.578G>A (p.Arg193Lys) c.290G>A (p.Arg97Lys) c.*2290G>A (n.*2290G>A) | |
| 3 | g.15644428G>C | CA351606430 | BTD | c.512G>C (p.Arg171Thr) c.399+2371G>C (n.399+2371G>C) c.165+2371G>C (n.165+2371G>C) c.572G>C (p.Arg191Thr) c.578G>C (p.Arg193Thr) c.290G>C (p.Arg97Thr) c.*2290G>C (n.*2290G>C) | |
| 3 | g.15644428G>T | CA351606433 | BTD | c.512G>T (p.Arg171Ile) c.399+2371G>T (n.399+2371G>T) c.165+2371G>T (n.165+2371G>T) c.572G>T (p.Arg191Ile) c.578G>T (p.Arg193Ile) c.290G>T (p.Arg97Ile) c.*2290G>T (n.*2290G>T) | |
| 3 | g.15644429A>C | CA351606435 | BTD | c.513A>C (p.Arg171Ser) c.399+2372A>C (n.399+2372A>C) c.165+2372A>C (n.165+2372A>C) c.573A>C (p.Arg191Ser) c.579A>C (p.Arg193Ser) c.291A>C (p.Arg97Ser) c.*2291A>C (n.*2291A>C) | |
| 3 | g.15644429A>G | CA432819201 | BTD | c.513A>G (p.Arg171=) c.399+2372A>G (n.399+2372A>G) c.165+2372A>G (n.165+2372A>G) c.573A>G (p.Arg191=) c.579A>G (p.Arg193=) c.291A>G (p.Arg97=) c.*2291A>G (n.*2291A>G) | |
| 3 | g.15644429A>T | CA351606437 | BTD | c.513A>T (p.Arg171Ser) c.399+2372A>T (n.399+2372A>T) c.165+2372A>T (n.165+2372A>T) c.573A>T (p.Arg191Ser) c.579A>T (p.Arg193Ser) c.291A>T (p.Arg97Ser) c.*2291A>T (n.*2291A>T) | |
| 3 | g.15644430T>A | CA351606440 | BTD | c.514T>A (p.Tyr172Asn) c.399+2373T>A (n.399+2373T>A) c.165+2373T>A (n.165+2373T>A) c.574T>A (p.Tyr192Asn) c.580T>A (p.Tyr194Asn) c.292T>A (p.Tyr98Asn) c.*2292T>A (n.*2292T>A) | |
| 3 | g.15644430T>C | CA351606441 | BTD | c.514T>C (p.Tyr172His) c.399+2373T>C (n.399+2373T>C) c.165+2373T>C (n.165+2373T>C) c.574T>C (p.Tyr192His) c.580T>C (p.Tyr194His) c.292T>C (p.Tyr98His) c.*2292T>C (n.*2292T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644430T>G | CA351606442 | BTD | c.514T>G (p.Tyr172Asp) c.399+2373T>G (n.399+2373T>G) c.165+2373T>G (n.165+2373T>G) c.574T>G (p.Tyr192Asp) c.580T>G (p.Tyr194Asp) c.292T>G (p.Tyr98Asp) c.*2292T>G (n.*2292T>G) | |
| 3 | g.15644430T= | CA1347663638 | BTD | c.514T= (p.Tyr172=) c.399+2373T= (n.399+2373T=) c.165+2373T= (n.165+2373T=) c.574T= (p.Tyr192=) c.580T= (p.Tyr194=) c.292T= (p.Tyr98=) c.*2292T= (n.*2292T=) | |
| 3 | g.15644431A>C | CA351606449 | BTD | c.515A>C (p.Tyr172Ser) c.399+2374A>C (n.399+2374A>C) c.165+2374A>C (n.165+2374A>C) c.575A>C (p.Tyr192Ser) c.581A>C (p.Tyr194Ser) c.293A>C (p.Tyr98Ser) c.*2293A>C (n.*2293A>C) | |
| 3 | g.15644431A>G | CA351606447 | BTD | c.515A>G (p.Tyr172Cys) c.399+2374A>G (n.399+2374A>G) c.165+2374A>G (n.165+2374A>G) c.575A>G (p.Tyr192Cys) c.581A>G (p.Tyr194Cys) c.293A>G (p.Tyr98Cys) c.*2293A>G (n.*2293A>G) | |
| 3 | g.15644431A>T | CA351606445 | BTD | c.515A>T (p.Tyr172Phe) c.399+2374A>T (n.399+2374A>T) c.165+2374A>T (n.165+2374A>T) c.575A>T (p.Tyr192Phe) c.581A>T (p.Tyr194Phe) c.293A>T (p.Tyr98Phe) c.*2293A>T (n.*2293A>T) | |
| 3 | g.15644431dup | CA2664667149 | BTD | c.515dup (p.Tyr172Ter) c.399+2374dup (n.399+2374dup) c.165+2374dup (n.165+2374dup) c.575dup (p.Tyr192Ter) c.581dup (p.Tyr194Ter) c.293dup (p.Tyr98Ter) c.*2293dup (n.*2293dup) | gnomAD v4 |
| 3 | g.15644432C>A | CA2277342 | BTD | c.516C>A (p.Tyr172Ter) c.399+2375C>A (n.399+2375C>A) c.165+2375C>A (n.165+2375C>A) c.576C>A (p.Tyr192Ter) c.582C>A (p.Tyr194Ter) c.294C>A (p.Tyr98Ter) c.*2294C>A (n.*2294C>A) | ClinVar dbSNP ExAC |
| 3 | g.15644432C= | CA1347663639 | BTD | c.516C= (p.Tyr172=) c.399+2375C= (n.399+2375C=) c.165+2375C= (n.165+2375C=) c.576C= (p.Tyr192=) c.582C= (p.Tyr194=) c.294C= (p.Tyr98=) c.*2294C= (n.*2294C=) | |
| 3 | g.15644432C>G | CA351606452 | BTD | c.516C>G (p.Tyr172Ter) c.399+2375C>G (n.399+2375C>G) c.165+2375C>G (n.165+2375C>G) c.576C>G (p.Tyr192Ter) c.582C>G (p.Tyr194Ter) c.294C>G (p.Tyr98Ter) c.*2294C>G (n.*2294C>G) | |
| 3 | g.15644432C>T | CA432819206 | BTD | c.516C>T (p.Tyr172=) c.399+2375C>T (n.399+2375C>T) c.165+2375C>T (n.165+2375C>T) c.576C>T (p.Tyr192=) c.582C>T (p.Tyr194=) c.294C>T (p.Tyr98=) c.*2294C>T (n.*2294C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644433C>A | CA351606454 | BTD | c.517C>A (p.Gln173Lys) c.399+2376C>A (n.399+2376C>A) c.165+2376C>A (n.165+2376C>A) c.577C>A (p.Gln193Lys) c.583C>A (p.Gln195Lys) c.295C>A (p.Gln99Lys) c.*2295C>A (n.*2295C>A) | |
| 3 | g.15644433C>G | CA351606456 | BTD | c.517C>G (p.Gln173Glu) c.399+2376C>G (n.399+2376C>G) c.165+2376C>G (n.165+2376C>G) c.577C>G (p.Gln193Glu) c.583C>G (p.Gln195Glu) c.295C>G (p.Gln99Glu) c.*2295C>G (n.*2295C>G) | |
| 3 | g.15644433C>T | CA351606457 | BTD | c.517C>T (p.Gln173Ter) c.399+2376C>T (n.399+2376C>T) c.165+2376C>T (n.165+2376C>T) c.577C>T (p.Gln193Ter) c.583C>T (p.Gln195Ter) c.295C>T (p.Gln99Ter) c.*2295C>T (n.*2295C>T) | |
| 3 | g.15644434A= | CA1347663644 | BTD | c.518A= (p.Gln173=) c.399+2377A= (n.399+2377A=) c.165+2377A= (n.165+2377A=) c.578A= (p.Gln193=) c.584A= (p.Gln195=) c.296A= (p.Gln99=) c.*2296A= (n.*2296A=) | |
| 3 | g.15644434A>C | CA351606460 | BTD | c.518A>C (p.Gln173Pro) c.399+2377A>C (n.399+2377A>C) c.165+2377A>C (n.165+2377A>C) c.578A>C (p.Gln193Pro) c.584A>C (p.Gln195Pro) c.296A>C (p.Gln99Pro) c.*2296A>C (n.*2296A>C) | |
| 3 | g.15644434A>G | CA351606461 | BTD | c.518A>G (p.Gln173Arg) c.399+2377A>G (n.399+2377A>G) c.165+2377A>G (n.165+2377A>G) c.578A>G (p.Gln193Arg) c.584A>G (p.Gln195Arg) c.296A>G (p.Gln99Arg) c.*2296A>G (n.*2296A>G) | dbSNP |