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.15644754A= | CA1347664398 | BTD | c.838A= (p.Asn280=) c.399+2697A= (n.399+2697A=) c.165+2697A= (n.165+2697A=) c.898A= (p.Asn300=) c.904A= (p.Asn302=) c.616A= (p.Asn206=) c.*2616A= (n.*2616A=) | |
| 3 | g.15644754A>C | CA278441 | BTD | c.838A>C (p.Asn280His) c.399+2697A>C (n.399+2697A>C) c.165+2697A>C (n.165+2697A>C) c.898A>C (p.Asn300His) c.904A>C (p.Asn302His) c.616A>C (p.Asn206His) c.*2616A>C (n.*2616A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644754A>G | CA351607450 | BTD | c.838A>G (p.Asn280Asp) c.399+2697A>G (n.399+2697A>G) c.165+2697A>G (n.165+2697A>G) c.898A>G (p.Asn300Asp) c.904A>G (p.Asn302Asp) c.616A>G (p.Asn206Asp) c.*2616A>G (n.*2616A>G) | |
| 3 | g.15644754A>T | CA351607451 | BTD | c.838A>T (p.Asn280Tyr) c.399+2697A>T (n.399+2697A>T) c.165+2697A>T (n.165+2697A>T) c.898A>T (p.Asn300Tyr) c.904A>T (p.Asn302Tyr) c.616A>T (p.Asn206Tyr) c.*2616A>T (n.*2616A>T) | |
| 3 | g.15644755A>C | CA351607452 | BTD | c.839A>C (p.Asn280Thr) c.399+2698A>C (n.399+2698A>C) c.165+2698A>C (n.165+2698A>C) c.899A>C (p.Asn300Thr) c.905A>C (p.Asn302Thr) c.617A>C (p.Asn206Thr) c.*2617A>C (n.*2617A>C) | |
| 3 | g.15644755A>G | CA351607453 | BTD | c.839A>G (p.Asn280Ser) c.399+2698A>G (n.399+2698A>G) c.165+2698A>G (n.165+2698A>G) c.899A>G (p.Asn300Ser) c.905A>G (p.Asn302Ser) c.617A>G (p.Asn206Ser) c.*2617A>G (n.*2617A>G) | |
| 3 | g.15644755A>T | CA351607454 | BTD | c.839A>T (p.Asn280Ile) c.399+2698A>T (n.399+2698A>T) c.165+2698A>T (n.165+2698A>T) c.899A>T (p.Asn300Ile) c.905A>T (p.Asn302Ile) c.617A>T (p.Asn206Ile) c.*2617A>T (n.*2617A>T) | |
| 3 | g.15644756T>A | CA351607455 | BTD | c.840T>A (p.Asn280Lys) c.399+2699T>A (n.399+2699T>A) c.165+2699T>A (n.165+2699T>A) c.900T>A (p.Asn300Lys) c.906T>A (p.Asn302Lys) c.618T>A (p.Asn206Lys) c.*2618T>A (n.*2618T>A) | |
| 3 | g.15644756T>C | CA432819548 | BTD | c.840T>C (p.Asn280=) c.399+2699T>C (n.399+2699T>C) c.165+2699T>C (n.165+2699T>C) c.900T>C (p.Asn300=) c.906T>C (p.Asn302=) c.618T>C (p.Asn206=) c.*2618T>C (n.*2618T>C) | dbSNP |
| 3 | g.15644756T>G | CA351607456 | BTD | c.840T>G (p.Asn280Lys) c.399+2699T>G (n.399+2699T>G) c.165+2699T>G (n.165+2699T>G) c.900T>G (p.Asn300Lys) c.906T>G (p.Asn302Lys) c.618T>G (p.Asn206Lys) c.*2618T>G (n.*2618T>G) | |
| 3 | g.15644757G>A | CA351607457 | BTD | c.841G>A (p.Val281Ile) c.399+2700G>A (n.399+2700G>A) c.165+2700G>A (n.165+2700G>A) c.901G>A (p.Val301Ile) c.907G>A (p.Val303Ile) c.619G>A (p.Val207Ile) c.*2619G>A (n.*2619G>A) | dbSNP |
| 3 | g.15644757G>C | CA351607458 | BTD | c.841G>C (p.Val281Leu) c.399+2700G>C (n.399+2700G>C) c.165+2700G>C (n.165+2700G>C) c.901G>C (p.Val301Leu) c.907G>C (p.Val303Leu) c.619G>C (p.Val207Leu) c.*2619G>C (n.*2619G>C) | |
| 3 | g.15644757G>T | CA351607459 | BTD | c.841G>T (p.Val281Phe) c.399+2700G>T (n.399+2700G>T) c.165+2700G>T (n.165+2700G>T) c.901G>T (p.Val301Phe) c.907G>T (p.Val303Phe) c.619G>T (p.Val207Phe) c.*2619G>T (n.*2619G>T) | |
| 3 | g.15644758T>A | CA351607462 | BTD | c.842T>A (p.Val281Asp) c.399+2701T>A (n.399+2701T>A) c.165+2701T>A (n.165+2701T>A) c.902T>A (p.Val301Asp) c.908T>A (p.Val303Asp) c.620T>A (p.Val207Asp) c.*2620T>A (n.*2620T>A) | |
| 3 | g.15644758T>C | CA351607461 | BTD | c.842T>C (p.Val281Ala) c.399+2701T>C (n.399+2701T>C) c.165+2701T>C (n.165+2701T>C) c.902T>C (p.Val301Ala) c.908T>C (p.Val303Ala) c.620T>C (p.Val207Ala) c.*2620T>C (n.*2620T>C) | |
| 3 | g.15644758T>G | CA351607460 | BTD | c.842T>G (p.Val281Gly) c.399+2701T>G (n.399+2701T>G) c.165+2701T>G (n.165+2701T>G) c.902T>G (p.Val301Gly) c.908T>G (p.Val303Gly) c.620T>G (p.Val207Gly) c.*2620T>G (n.*2620T>G) | |
| 3 | g.15644759C>A | CA432819552 | BTD | c.843C>A (p.Val281=) c.399+2702C>A (n.399+2702C>A) c.165+2702C>A (n.165+2702C>A) c.903C>A (p.Val301=) c.909C>A (p.Val303=) c.621C>A (p.Val207=) c.*2621C>A (n.*2621C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644759C= | CA1347664404 | BTD | c.843C= (p.Val281=) c.399+2702C= (n.399+2702C=) c.165+2702C= (n.165+2702C=) c.903C= (p.Val301=) c.909C= (p.Val303=) c.621C= (p.Val207=) c.*2621C= (n.*2621C=) | |
| 3 | g.15644759C>G | CA432819554 | BTD | c.843C>G (p.Val281=) c.399+2702C>G (n.399+2702C>G) c.165+2702C>G (n.165+2702C>G) c.903C>G (p.Val301=) c.909C>G (p.Val303=) c.621C>G (p.Val207=) c.*2621C>G (n.*2621C>G) | |
| 3 | g.15644759C>T | CA432819557 | BTD | c.843C>T (p.Val281=) c.399+2702C>T (n.399+2702C>T) c.165+2702C>T (n.165+2702C>T) c.903C>T (p.Val301=) c.909C>T (p.Val303=) c.621C>T (p.Val207=) c.*2621C>T (n.*2621C>T) | |
| 3 | g.15644760C>A | CA351607463 | BTD | c.844C>A (p.His282Asn) c.399+2703C>A (n.399+2703C>A) c.165+2703C>A (n.165+2703C>A) c.904C>A (p.His302Asn) c.910C>A (p.His304Asn) c.622C>A (p.His208Asn) c.*2622C>A (n.*2622C>A) | gnomAD v4 |
| 3 | g.15644760C= | CA1347664414 | BTD | c.844C= (p.His282=) c.399+2703C= (n.399+2703C=) c.165+2703C= (n.165+2703C=) c.904C= (p.His302=) c.910C= (p.His304=) c.622C= (p.His208=) c.*2622C= (n.*2622C=) | |
| 3 | g.15644760C>G | CA351607464 | BTD | c.844C>G (p.His282Asp) c.399+2703C>G (n.399+2703C>G) c.165+2703C>G (n.165+2703C>G) c.904C>G (p.His302Asp) c.910C>G (p.His304Asp) c.622C>G (p.His208Asp) c.*2622C>G (n.*2622C>G) | |
| 3 | g.15644760C>T | CA220337 | BTD | c.844C>T (p.His282Tyr) c.399+2703C>T (n.399+2703C>T) c.165+2703C>T (n.165+2703C>T) c.904C>T (p.His302Tyr) c.910C>T (p.His304Tyr) c.622C>T (p.His208Tyr) c.*2622C>T (n.*2622C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644761A>C | CA351607465 | BTD | c.845A>C (p.His282Pro) c.399+2704A>C (n.399+2704A>C) c.165+2704A>C (n.165+2704A>C) c.905A>C (p.His302Pro) c.911A>C (p.His304Pro) c.623A>C (p.His208Pro) c.*2623A>C (n.*2623A>C) | |
| 3 | g.15644761A>G | CA351607466 | BTD | c.845A>G (p.His282Arg) c.399+2704A>G (n.399+2704A>G) c.165+2704A>G (n.165+2704A>G) c.905A>G (p.His302Arg) c.911A>G (p.His304Arg) c.623A>G (p.His208Arg) c.*2623A>G (n.*2623A>G) | |
| 3 | g.15644761A>T | CA351607467 | BTD | c.845A>T (p.His282Leu) c.399+2704A>T (n.399+2704A>T) c.165+2704A>T (n.165+2704A>T) c.905A>T (p.His302Leu) c.911A>T (p.His304Leu) c.623A>T (p.His208Leu) c.*2623A>T (n.*2623A>T) | |
| 3 | g.15644762C>A | CA351607468 | BTD | c.846C>A (p.His282Gln) c.399+2705C>A (n.399+2705C>A) c.165+2705C>A (n.165+2705C>A) c.906C>A (p.His302Gln) c.912C>A (p.His304Gln) c.624C>A (p.His208Gln) c.*2624C>A (n.*2624C>A) | gnomAD v4 |
| 3 | g.15644762C>G | CA351607469 | BTD | c.846C>G (p.His282Gln) c.399+2705C>G (n.399+2705C>G) c.165+2705C>G (n.165+2705C>G) c.906C>G (p.His302Gln) c.912C>G (p.His304Gln) c.624C>G (p.His208Gln) c.*2624C>G (n.*2624C>G) | ClinVar dbSNP |
| 3 | g.15644762C>T | CA432819564 | BTD | c.846C>T (p.His282=) c.399+2705C>T (n.399+2705C>T) c.165+2705C>T (n.165+2705C>T) c.906C>T (p.His302=) c.912C>T (p.His304=) c.624C>T (p.His208=) c.*2624C>T (n.*2624C>T) | ClinVar |
| 3 | g.15644763C>A | CA351607470 | BTD | c.847C>A (p.His283Asn) c.399+2706C>A (n.399+2706C>A) c.165+2706C>A (n.165+2706C>A) c.907C>A (p.His303Asn) c.913C>A (p.His305Asn) c.625C>A (p.His209Asn) c.*2625C>A (n.*2625C>A) | |
| 3 | g.15644763C= | CA1347664423 | BTD | c.847C= (p.His283=) c.399+2706C= (n.399+2706C=) c.165+2706C= (n.165+2706C=) c.907C= (p.His303=) c.913C= (p.His305=) c.625C= (p.His209=) c.*2625C= (n.*2625C=) | |
| 3 | g.15644763C>G | CA351607471 | BTD | c.847C>G (p.His283Asp) c.399+2706C>G (n.399+2706C>G) c.165+2706C>G (n.165+2706C>G) c.907C>G (p.His303Asp) c.913C>G (p.His305Asp) c.625C>G (p.His209Asp) c.*2625C>G (n.*2625C>G) | |
| 3 | g.15644763C>T | CA2277394 | BTD | c.847C>T (p.His283Tyr) c.399+2706C>T (n.399+2706C>T) c.165+2706C>T (n.165+2706C>T) c.907C>T (p.His303Tyr) c.913C>T (p.His305Tyr) c.625C>T (p.His209Tyr) c.*2625C>T (n.*2625C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644764A>C | CA351607474 | BTD | c.848A>C (p.His283Pro) c.399+2707A>C (n.399+2707A>C) c.165+2707A>C (n.165+2707A>C) c.908A>C (p.His303Pro) c.914A>C (p.His305Pro) c.626A>C (p.His209Pro) c.*2626A>C (n.*2626A>C) | |
| 3 | g.15644764A>G | CA351607473 | BTD | c.848A>G (p.His283Arg) c.399+2707A>G (n.399+2707A>G) c.165+2707A>G (n.165+2707A>G) c.908A>G (p.His303Arg) c.914A>G (p.His305Arg) c.626A>G (p.His209Arg) c.*2626A>G (n.*2626A>G) | |
| 3 | g.15644764A>T | CA351607472 | BTD | c.848A>T (p.His283Leu) c.399+2707A>T (n.399+2707A>T) c.165+2707A>T (n.165+2707A>T) c.908A>T (p.His303Leu) c.914A>T (p.His305Leu) c.626A>T (p.His209Leu) c.*2626A>T (n.*2626A>T) | |
| 3 | g.15644765C>A | CA351607475 | BTD | c.849C>A (p.His283Gln) c.399+2708C>A (n.399+2708C>A) c.165+2708C>A (n.165+2708C>A) c.909C>A (p.His303Gln) c.915C>A (p.His305Gln) c.627C>A (p.His209Gln) c.*2627C>A (n.*2627C>A) | |
| 3 | g.15644765C>G | CA351607476 | BTD | c.849C>G (p.His283Gln) c.399+2708C>G (n.399+2708C>G) c.165+2708C>G (n.165+2708C>G) c.909C>G (p.His303Gln) c.915C>G (p.His305Gln) c.627C>G (p.His209Gln) c.*2627C>G (n.*2627C>G) | |
| 3 | g.15644765C>T | CA432819568 | BTD | c.849C>T (p.His283=) c.399+2708C>T (n.399+2708C>T) c.165+2708C>T (n.165+2708C>T) c.909C>T (p.His303=) c.915C>T (p.His305=) c.627C>T (p.His209=) c.*2627C>T (n.*2627C>T) | |
| 3 | g.15644766C>A | CA351607477 | BTD | c.850C>A (p.Pro284Thr) c.399+2709C>A (n.399+2709C>A) c.165+2709C>A (n.165+2709C>A) c.910C>A (p.Pro304Thr) c.916C>A (p.Pro306Thr) c.628C>A (p.Pro210Thr) c.*2628C>A (n.*2628C>A) | |
| 3 | g.15644766C>G | CA351607478 | BTD | c.850C>G (p.Pro284Ala) c.399+2709C>G (n.399+2709C>G) c.165+2709C>G (n.165+2709C>G) c.910C>G (p.Pro304Ala) c.916C>G (p.Pro306Ala) c.628C>G (p.Pro210Ala) c.*2628C>G (n.*2628C>G) | |
| 3 | g.15644766C>T | CA351607479 | BTD | c.850C>T (p.Pro284Ser) c.399+2709C>T (n.399+2709C>T) c.165+2709C>T (n.165+2709C>T) c.910C>T (p.Pro304Ser) c.916C>T (p.Pro306Ser) c.628C>T (p.Pro210Ser) c.*2628C>T (n.*2628C>T) | |
| 3 | g.15644767C>A | CA351607480 | BTD | c.851C>A (p.Pro284Gln) c.399+2710C>A (n.399+2710C>A) c.165+2710C>A (n.165+2710C>A) c.911C>A (p.Pro304Gln) c.917C>A (p.Pro306Gln) c.629C>A (p.Pro210Gln) c.*2629C>A (n.*2629C>A) | |
| 3 | g.15644767C>G | CA351607481 | BTD | c.851C>G (p.Pro284Arg) c.399+2710C>G (n.399+2710C>G) c.165+2710C>G (n.165+2710C>G) c.911C>G (p.Pro304Arg) c.917C>G (p.Pro306Arg) c.629C>G (p.Pro210Arg) c.*2629C>G (n.*2629C>G) | |
| 3 | g.15644767C>T | CA351607482 | BTD | c.851C>T (p.Pro284Leu) c.399+2710C>T (n.399+2710C>T) c.165+2710C>T (n.165+2710C>T) c.911C>T (p.Pro304Leu) c.917C>T (p.Pro306Leu) c.629C>T (p.Pro210Leu) c.*2629C>T (n.*2629C>T) | gnomAD v4 |
| 3 | g.15644768A= | CA1347664430 | BTD | c.852A= (p.Pro284=) c.399+2711A= (n.399+2711A=) c.165+2711A= (n.165+2711A=) c.912A= (p.Pro304=) c.918A= (p.Pro306=) c.630A= (p.Pro210=) c.*2630A= (n.*2630A=) | |
| 3 | g.15644768A>C | CA432819574 | BTD | c.852A>C (p.Pro284=) c.399+2711A>C (n.399+2711A>C) c.165+2711A>C (n.165+2711A>C) c.912A>C (p.Pro304=) c.918A>C (p.Pro306=) c.630A>C (p.Pro210=) c.*2630A>C (n.*2630A>C) | gnomAD v4 |
| 3 | g.15644768A>G | CA2277395 | BTD | c.852A>G (p.Pro284=) c.399+2711A>G (n.399+2711A>G) c.165+2711A>G (n.165+2711A>G) c.912A>G (p.Pro304=) c.918A>G (p.Pro306=) c.630A>G (p.Pro210=) c.*2630A>G (n.*2630A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644768A>T | CA432819576 | BTD | c.852A>T (p.Pro284=) c.399+2711A>T (n.399+2711A>T) c.165+2711A>T (n.165+2711A>T) c.912A>T (p.Pro304=) c.918A>T (p.Pro306=) c.630A>T (p.Pro210=) c.*2630A>T (n.*2630A>T) |