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.15644743T>A | CA351607433 | BTD | c.827T>A (p.Val276Asp) c.399+2686T>A (n.399+2686T>A) c.165+2686T>A (n.165+2686T>A) c.887T>A (p.Val296Asp) c.893T>A (p.Val298Asp) c.605T>A (p.Val202Asp) c.*2605T>A (n.*2605T>A) | |
| 3 | g.15644743T>C | CA351607432 | BTD | c.827T>C (p.Val276Ala) c.399+2686T>C (n.399+2686T>C) c.165+2686T>C (n.165+2686T>C) c.887T>C (p.Val296Ala) c.893T>C (p.Val298Ala) c.605T>C (p.Val202Ala) c.*2605T>C (n.*2605T>C) | |
| 3 | g.15644743T>G | CA278272 | BTD | c.827T>G (p.Val276Gly) c.399+2686T>G (n.399+2686T>G) c.165+2686T>G (n.165+2686T>G) c.887T>G (p.Val296Gly) c.893T>G (p.Val298Gly) c.605T>G (p.Val202Gly) c.*2605T>G (n.*2605T>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644743T= | CA1347664377 | BTD | c.827T= (p.Val276=) c.399+2686T= (n.399+2686T=) c.165+2686T= (n.165+2686T=) c.887T= (p.Val296=) c.893T= (p.Val298=) c.605T= (p.Val202=) c.*2605T= (n.*2605T=) | |
| 3 | g.15644744T>A | CA432819513 | BTD | c.828T>A (p.Val276=) c.399+2687T>A (n.399+2687T>A) c.165+2687T>A (n.165+2687T>A) c.888T>A (p.Val296=) c.894T>A (p.Val298=) c.606T>A (p.Val202=) c.*2606T>A (n.*2606T>A) | |
| 3 | g.15644744T>C | CA432819516 | BTD | c.828T>C (p.Val276=) c.399+2687T>C (n.399+2687T>C) c.165+2687T>C (n.165+2687T>C) c.888T>C (p.Val296=) c.894T>C (p.Val298=) c.606T>C (p.Val202=) c.*2606T>C (n.*2606T>C) | |
| 3 | g.15644744T>G | CA432819515 | BTD | c.828T>G (p.Val276=) c.399+2687T>G (n.399+2687T>G) c.165+2687T>G (n.165+2687T>G) c.888T>G (p.Val296=) c.894T>G (p.Val298=) c.606T>G (p.Val202=) c.*2606T>G (n.*2606T>G) | |
| 3 | g.15644745C>A | CA351607434 | BTD | c.829C>A (p.Leu277Met) c.399+2688C>A (n.399+2688C>A) c.165+2688C>A (n.165+2688C>A) c.889C>A (p.Leu297Met) c.895C>A (p.Leu299Met) c.607C>A (p.Leu203Met) c.*2607C>A (n.*2607C>A) | |
| 3 | g.15644745C>G | CA351607435 | BTD | c.829C>G (p.Leu277Val) c.399+2688C>G (n.399+2688C>G) c.165+2688C>G (n.165+2688C>G) c.889C>G (p.Leu297Val) c.895C>G (p.Leu299Val) c.607C>G (p.Leu203Val) c.*2607C>G (n.*2607C>G) | |
| 3 | g.15644745C>T | CA432819520 | BTD | c.829C>T (p.Leu277=) c.399+2688C>T (n.399+2688C>T) c.165+2688C>T (n.165+2688C>T) c.889C>T (p.Leu297=) c.895C>T (p.Leu299=) c.607C>T (p.Leu203=) c.*2607C>T (n.*2607C>T) | gnomAD v4 |
| 3 | g.15644746T>A | CA351607436 | BTD | c.830T>A (p.Leu277Gln) c.399+2689T>A (n.399+2689T>A) c.165+2689T>A (n.165+2689T>A) c.890T>A (p.Leu297Gln) c.896T>A (p.Leu299Gln) c.608T>A (p.Leu203Gln) c.*2608T>A (n.*2608T>A) | |
| 3 | g.15644746T>C | CA351607437 | BTD | c.830T>C (p.Leu277Pro) c.399+2689T>C (n.399+2689T>C) c.165+2689T>C (n.165+2689T>C) c.890T>C (p.Leu297Pro) c.896T>C (p.Leu299Pro) c.608T>C (p.Leu203Pro) c.*2608T>C (n.*2608T>C) | |
| 3 | g.15644746T>G | CA351607438 | BTD | c.830T>G (p.Leu277Arg) c.399+2689T>G (n.399+2689T>G) c.165+2689T>G (n.165+2689T>G) c.890T>G (p.Leu297Arg) c.896T>G (p.Leu299Arg) c.608T>G (p.Leu203Arg) c.*2608T>G (n.*2608T>G) | |
| 3 | g.15644747G>A | CA432819523 | BTD | c.831G>A (p.Leu277=) c.399+2690G>A (n.399+2690G>A) c.165+2690G>A (n.165+2690G>A) c.891G>A (p.Leu297=) c.897G>A (p.Leu299=) c.609G>A (p.Leu203=) c.*2609G>A (n.*2609G>A) | dbSNP gnomAD v2 |
| 3 | g.15644747G>C | CA432819524 | BTD | c.831G>C (p.Leu277=) c.399+2690G>C (n.399+2690G>C) c.165+2690G>C (n.165+2690G>C) c.891G>C (p.Leu297=) c.897G>C (p.Leu299=) c.609G>C (p.Leu203=) c.*2609G>C (n.*2609G>C) | |
| 3 | g.15644747G= | CA1347664383 | BTD | c.831G= (p.Leu277=) c.399+2690G= (n.399+2690G=) c.165+2690G= (n.165+2690G=) c.891G= (p.Leu297=) c.897G= (p.Leu299=) c.609G= (p.Leu203=) c.*2609G= (n.*2609G=) | |
| 3 | g.15644747G>T | CA432819525 | BTD | c.831G>T (p.Leu277=) c.399+2690G>T (n.399+2690G>T) c.165+2690G>T (n.165+2690G>T) c.891G>T (p.Leu297=) c.897G>T (p.Leu299=) c.609G>T (p.Leu203=) c.*2609G>T (n.*2609G>T) | |
| 3 | g.15644748G>A | CA351607439 | BTD | c.832G>A (p.Ala278Thr) c.399+2691G>A (n.399+2691G>A) c.165+2691G>A (n.165+2691G>A) c.892G>A (p.Ala298Thr) c.898G>A (p.Ala300Thr) c.610G>A (p.Ala204Thr) c.*2610G>A (n.*2610G>A) | |
| 3 | g.15644748G>C | CA351607440 | BTD | c.832G>C (p.Ala278Pro) c.399+2691G>C (n.399+2691G>C) c.165+2691G>C (n.165+2691G>C) c.892G>C (p.Ala298Pro) c.898G>C (p.Ala300Pro) c.610G>C (p.Ala204Pro) c.*2610G>C (n.*2610G>C) | |
| 3 | g.15644748G>T | CA351607441 | BTD | c.832G>T (p.Ala278Ser) c.399+2691G>T (n.399+2691G>T) c.165+2691G>T (n.165+2691G>T) c.892G>T (p.Ala298Ser) c.898G>T (p.Ala300Ser) c.610G>T (p.Ala204Ser) c.*2610G>T (n.*2610G>T) | |
| 3 | g.15644749C>A | CA351607442 | BTD | c.833C>A (p.Ala278Glu) c.399+2692C>A (n.399+2692C>A) c.165+2692C>A (n.165+2692C>A) c.893C>A (p.Ala298Glu) c.899C>A (p.Ala300Glu) c.611C>A (p.Ala204Glu) c.*2611C>A (n.*2611C>A) | |
| 3 | g.15644749C>G | CA351607443 | BTD | c.833C>G (p.Ala278Gly) c.399+2692C>G (n.399+2692C>G) c.165+2692C>G (n.165+2692C>G) c.893C>G (p.Ala298Gly) c.899C>G (p.Ala300Gly) c.611C>G (p.Ala204Gly) c.*2611C>G (n.*2611C>G) | |
| 3 | g.15644749C>T | CA351607444 | BTD | c.833C>T (p.Ala278Val) c.399+2692C>T (n.399+2692C>T) c.165+2692C>T (n.165+2692C>T) c.893C>T (p.Ala298Val) c.899C>T (p.Ala300Val) c.611C>T (p.Ala204Val) c.*2611C>T (n.*2611C>T) | COSMIC |
| 3 | g.15644750A>C | CA432819529 | BTD | c.834A>C (p.Ala278=) c.399+2693A>C (n.399+2693A>C) c.165+2693A>C (n.165+2693A>C) c.894A>C (p.Ala298=) c.900A>C (p.Ala300=) c.612A>C (p.Ala204=) c.*2612A>C (n.*2612A>C) | |
| 3 | g.15644750A>G | CA432819530 | BTD | c.834A>G (p.Ala278=) c.399+2693A>G (n.399+2693A>G) c.165+2693A>G (n.165+2693A>G) c.894A>G (p.Ala298=) c.900A>G (p.Ala300=) c.612A>G (p.Ala204=) c.*2612A>G (n.*2612A>G) | |
| 3 | g.15644750A>T | CA432819533 | BTD | c.834A>T (p.Ala278=) c.399+2693A>T (n.399+2693A>T) c.165+2693A>T (n.165+2693A>T) c.894A>T (p.Ala298=) c.900A>T (p.Ala300=) c.612A>T (p.Ala204=) c.*2612A>T (n.*2612A>T) | |
| 3 | g.15644751G>A | CA351607447 | BTD | c.835G>A (p.Ala279Thr) c.399+2694G>A (n.399+2694G>A) c.165+2694G>A (n.165+2694G>A) c.895G>A (p.Ala299Thr) c.901G>A (p.Ala301Thr) c.613G>A (p.Ala205Thr) c.*2613G>A (n.*2613G>A) | |
| 3 | g.15644751G>C | CA351607446 | BTD | c.835G>C (p.Ala279Pro) c.399+2694G>C (n.399+2694G>C) c.165+2694G>C (n.165+2694G>C) c.895G>C (p.Ala299Pro) c.901G>C (p.Ala301Pro) c.613G>C (p.Ala205Pro) c.*2613G>C (n.*2613G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644751G= | CA1347664387 | BTD | c.835G= (p.Ala279=) c.399+2694G= (n.399+2694G=) c.165+2694G= (n.165+2694G=) c.895G= (p.Ala299=) c.901G= (p.Ala301=) c.613G= (p.Ala205=) c.*2613G= (n.*2613G=) | |
| 3 | g.15644751G>T | CA351607445 | BTD | c.835G>T (p.Ala279Ser) c.399+2694G>T (n.399+2694G>T) c.165+2694G>T (n.165+2694G>T) c.895G>T (p.Ala299Ser) c.901G>T (p.Ala301Ser) c.613G>T (p.Ala205Ser) c.*2613G>T (n.*2613G>T) | |
| 3 | g.15644752C>A | CA351607448 | BTD | c.836C>A (p.Ala279Asp) c.399+2695C>A (n.399+2695C>A) c.165+2695C>A (n.165+2695C>A) c.896C>A (p.Ala299Asp) c.902C>A (p.Ala301Asp) c.614C>A (p.Ala205Asp) c.*2614C>A (n.*2614C>A) | |
| 3 | g.15644752C= | CA1347664393 | BTD | c.836C= (p.Ala279=) c.399+2695C= (n.399+2695C=) c.165+2695C= (n.165+2695C=) c.896C= (p.Ala299=) c.902C= (p.Ala301=) c.614C= (p.Ala205=) c.*2614C= (n.*2614C=) | |
| 3 | g.15644752C>G | CA351607449 | BTD | c.836C>G (p.Ala279Gly) c.399+2695C>G (n.399+2695C>G) c.165+2695C>G (n.165+2695C>G) c.896C>G (p.Ala299Gly) c.902C>G (p.Ala301Gly) c.614C>G (p.Ala205Gly) c.*2614C>G (n.*2614C>G) | |
| 3 | g.15644752C>T | CA278274 | BTD | c.836C>T (p.Ala279Val) c.399+2695C>T (n.399+2695C>T) c.165+2695C>T (n.165+2695C>T) c.896C>T (p.Ala299Val) c.902C>T (p.Ala301Val) c.614C>T (p.Ala205Val) c.*2614C>T (n.*2614C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644753T>A | CA432819540 | BTD | c.837T>A (p.Ala279=) c.399+2696T>A (n.399+2696T>A) c.165+2696T>A (n.165+2696T>A) c.897T>A (p.Ala299=) c.903T>A (p.Ala301=) c.615T>A (p.Ala205=) c.*2615T>A (n.*2615T>A) | |
| 3 | g.15644753T>C | CA432819538 | BTD | c.837T>C (p.Ala279=) c.399+2696T>C (n.399+2696T>C) c.165+2696T>C (n.165+2696T>C) c.897T>C (p.Ala299=) c.903T>C (p.Ala301=) c.615T>C (p.Ala205=) c.*2615T>C (n.*2615T>C) | |
| 3 | g.15644753T>G | CA432819539 | BTD | c.837T>G (p.Ala279=) c.399+2696T>G (n.399+2696T>G) c.165+2696T>G (n.165+2696T>G) c.897T>G (p.Ala299=) c.903T>G (p.Ala301=) c.615T>G (p.Ala205=) c.*2615T>G (n.*2615T>G) | |
| 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) |