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 |
|---|---|---|---|---|---|
| 16 | g.3770659G>A | CA271379 | CREBBP | c.2791C>T (p.Gln931Ter) c.2677C>T (p.Gln893Ter) c.1396C>T (p.Gln466Ter) n.45C>T c.2746C>T (p.Gln916Ter) c.2464-1306C>T (n.2464-1306C>T) c.2737C>T (p.Gln913Ter) c.2038C>T (p.Gln680Ter) c.2785C>T (p.Gln929Ter) | ClinVar dbSNP |
| 16 | g.3770659G>C | CA394550754 | CREBBP | c.2791C>G (p.Gln931Glu) c.2677C>G (p.Gln893Glu) c.1396C>G (p.Gln466Glu) n.45C>G c.2746C>G (p.Gln916Glu) c.2464-1306C>G (n.2464-1306C>G) c.2737C>G (p.Gln913Glu) c.2038C>G (p.Gln680Glu) c.2785C>G (p.Gln929Glu) | dbSNP |
| 16 | g.3770659G= | CA2202950819 | CREBBP | c.2791C= (p.Gln931=) c.2677C= (p.Gln893=) c.1396C= (p.Gln466=) n.45C= c.2746C= (p.Gln916=) c.2464-1306C= (n.2464-1306C=) c.2737C= (p.Gln913=) c.2038C= (p.Gln680=) c.2785C= (p.Gln929=) | |
| 16 | g.3770659G>T | CA394550756 | CREBBP | c.2791C>A (p.Gln931Lys) c.2677C>A (p.Gln893Lys) c.1396C>A (p.Gln466Lys) n.45C>A c.2746C>A (p.Gln916Lys) c.2464-1306C>A (n.2464-1306C>A) c.2737C>A (p.Gln913Lys) c.2038C>A (p.Gln680Lys) c.2785C>A (p.Gln929Lys) | dbSNP |
| 16 | g.3770660A>C | CA493394782 | CREBBP | c.2790T>G (p.Pro930=) c.2676T>G (p.Pro892=) c.1395T>G (p.Pro465=) n.44T>G c.2745T>G (p.Pro915=) c.2464-1307T>G (n.2464-1307T>G) c.2736T>G (p.Pro912=) c.2037T>G (p.Pro679=) c.2784T>G (p.Pro928=) | |
| 16 | g.3770660A>G | CA493394783 | CREBBP | c.2790T>C (p.Pro930=) c.2676T>C (p.Pro892=) c.1395T>C (p.Pro465=) n.44T>C c.2745T>C (p.Pro915=) c.2464-1307T>C (n.2464-1307T>C) c.2736T>C (p.Pro912=) c.2037T>C (p.Pro679=) c.2784T>C (p.Pro928=) | dbSNP gnomAD v4 |
| 16 | g.3770660A>T | CA493394784 | CREBBP | c.2790T>A (p.Pro930=) c.2676T>A (p.Pro892=) c.1395T>A (p.Pro465=) n.44T>A c.2745T>A (p.Pro915=) c.2464-1307T>A (n.2464-1307T>A) c.2736T>A (p.Pro912=) c.2037T>A (p.Pro679=) c.2784T>A (p.Pro928=) | dbSNP |
| 16 | g.3770661G>A | CA394550758 | CREBBP | c.2789C>T (p.Pro930Leu) c.2675C>T (p.Pro892Leu) c.1394C>T (p.Pro465Leu) n.43C>T c.2744C>T (p.Pro915Leu) c.2464-1308C>T (n.2464-1308C>T) c.2735C>T (p.Pro912Leu) c.2036C>T (p.Pro679Leu) c.2783C>T (p.Pro928Leu) | dbSNP |
| 16 | g.3770661G>C | CA394550760 | CREBBP | c.2789C>G (p.Pro930Arg) c.2675C>G (p.Pro892Arg) c.1394C>G (p.Pro465Arg) n.43C>G c.2744C>G (p.Pro915Arg) c.2464-1308C>G (n.2464-1308C>G) c.2735C>G (p.Pro912Arg) c.2036C>G (p.Pro679Arg) c.2783C>G (p.Pro928Arg) | dbSNP gnomAD v4 |
| 16 | g.3770661G>T | CA394550761 | CREBBP | c.2789C>A (p.Pro930His) c.2675C>A (p.Pro892His) c.1394C>A (p.Pro465His) n.43C>A c.2744C>A (p.Pro915His) c.2464-1308C>A (n.2464-1308C>A) c.2735C>A (p.Pro912His) c.2036C>A (p.Pro679His) c.2783C>A (p.Pro928His) | dbSNP |
| 16 | g.3770662G>A | CA394550767 | CREBBP | c.2788C>T (p.Pro930Ser) c.2674C>T (p.Pro892Ser) c.1393C>T (p.Pro465Ser) n.42C>T c.2743C>T (p.Pro915Ser) c.2464-1309C>T (n.2464-1309C>T) c.2734C>T (p.Pro912Ser) c.2035C>T (p.Pro679Ser) c.2782C>T (p.Pro928Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3770662G>C | CA394550763 | CREBBP | c.2788C>G (p.Pro930Ala) c.2674C>G (p.Pro892Ala) c.1393C>G (p.Pro465Ala) n.42C>G c.2743C>G (p.Pro915Ala) c.2464-1309C>G (n.2464-1309C>G) c.2734C>G (p.Pro912Ala) c.2035C>G (p.Pro679Ala) c.2782C>G (p.Pro928Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3770662G= | CA2202950820 | CREBBP | c.2788C= (p.Pro930=) c.2674C= (p.Pro892=) c.1393C= (p.Pro465=) n.42C= c.2743C= (p.Pro915=) c.2464-1309C= (n.2464-1309C=) c.2734C= (p.Pro912=) c.2035C= (p.Pro679=) c.2782C= (p.Pro928=) | |
| 16 | g.3770662G>T | CA394550765 | CREBBP | c.2788C>A (p.Pro930Thr) c.2674C>A (p.Pro892Thr) c.1393C>A (p.Pro465Thr) n.42C>A c.2743C>A (p.Pro915Thr) c.2464-1309C>A (n.2464-1309C>A) c.2734C>A (p.Pro912Thr) c.2035C>A (p.Pro679Thr) c.2782C>A (p.Pro928Thr) | dbSNP |
| 16 | g.3770663C>A | CA394550769 | CREBBP | c.2787G>T (p.Gln929His) c.2673G>T (p.Gln891His) c.1392G>T (p.Gln464His) n.41G>T c.2742G>T (p.Gln914His) c.2464-1310G>T (n.2464-1310G>T) c.2733G>T (p.Gln911His) c.2034G>T (p.Gln678His) c.2781G>T (p.Gln927His) | dbSNP |
| 16 | g.3770663C= | CA2202950821 | CREBBP | c.2787G= (p.Gln929=) c.2673G= (p.Gln891=) c.1392G= (p.Gln464=) n.41G= c.2742G= (p.Gln914=) c.2464-1310G= (n.2464-1310G=) c.2733G= (p.Gln911=) c.2034G= (p.Gln678=) c.2781G= (p.Gln927=) | |
| 16 | g.3770663C>G | CA394550771 | CREBBP | c.2787G>C (p.Gln929His) c.2673G>C (p.Gln891His) c.1392G>C (p.Gln464His) n.41G>C c.2742G>C (p.Gln914His) c.2464-1310G>C (n.2464-1310G>C) c.2733G>C (p.Gln911His) c.2034G>C (p.Gln678His) c.2781G>C (p.Gln927His) | dbSNP |
| 16 | g.3770663C>T | CA493394788 | CREBBP | c.2787G>A (p.Gln929=) c.2673G>A (p.Gln891=) c.1392G>A (p.Gln464=) n.41G>A c.2742G>A (p.Gln914=) c.2464-1310G>A (n.2464-1310G>A) c.2733G>A (p.Gln911=) c.2034G>A (p.Gln678=) c.2781G>A (p.Gln927=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3770663dup | CA915949092 | CREBBP | c.2787dup (p.Pro930AlafsTer?) c.2673dup (p.Pro892AlafsTer?) c.1392dup (p.Pro465AlafsTer?) n.41dup c.2742dup (p.Pro915AlafsTer?) c.2464-1310dup (n.2464-1310dup) c.2733dup (p.Pro912AlafsTer?) c.2034dup (p.Pro679AlafsTer?) c.2781dup (p.Pro928AlafsTer?) | ClinVar dbSNP |
| 16 | g.3770664T>A | CA394550774 | CREBBP | c.2786A>T (p.Gln929Leu) c.2672A>T (p.Gln891Leu) c.1391A>T (p.Gln464Leu) n.40A>T c.2741A>T (p.Gln914Leu) c.2464-1311A>T (n.2464-1311A>T) c.2732A>T (p.Gln911Leu) c.2033A>T (p.Gln678Leu) c.2780A>T (p.Gln927Leu) | dbSNP |
| 16 | g.3770664T>C | CA394550776 | CREBBP | c.2786A>G (p.Gln929Arg) c.2672A>G (p.Gln891Arg) c.1391A>G (p.Gln464Arg) n.40A>G c.2741A>G (p.Gln914Arg) c.2464-1311A>G (n.2464-1311A>G) c.2732A>G (p.Gln911Arg) c.2033A>G (p.Gln678Arg) c.2780A>G (p.Gln927Arg) | dbSNP |
| 16 | g.3770664T>G | CA394550778 | CREBBP | c.2786A>C (p.Gln929Pro) c.2672A>C (p.Gln891Pro) c.1391A>C (p.Gln464Pro) n.40A>C c.2741A>C (p.Gln914Pro) c.2464-1311A>C (n.2464-1311A>C) c.2732A>C (p.Gln911Pro) c.2033A>C (p.Gln678Pro) c.2780A>C (p.Gln927Pro) | dbSNP |
| 16 | g.3770665G>A | CA394550779 | CREBBP | c.2785C>T (p.Gln929Ter) c.2671C>T (p.Gln891Ter) c.1390C>T (p.Gln464Ter) n.39C>T c.2740C>T (p.Gln914Ter) c.2464-1312C>T (n.2464-1312C>T) c.2731C>T (p.Gln911Ter) c.2032C>T (p.Gln678Ter) c.2779C>T (p.Gln927Ter) | |
| 16 | g.3770665G>C | CA394550783 | CREBBP | c.2785C>G (p.Gln929Glu) c.2671C>G (p.Gln891Glu) c.1390C>G (p.Gln464Glu) n.39C>G c.2740C>G (p.Gln914Glu) c.2464-1312C>G (n.2464-1312C>G) c.2731C>G (p.Gln911Glu) c.2032C>G (p.Gln678Glu) c.2779C>G (p.Gln927Glu) | |
| 16 | g.3770665G>T | CA394550781 | CREBBP | c.2785C>A (p.Gln929Lys) c.2671C>A (p.Gln891Lys) c.1390C>A (p.Gln464Lys) n.39C>A c.2740C>A (p.Gln914Lys) c.2464-1312C>A (n.2464-1312C>A) c.2731C>A (p.Gln911Lys) c.2032C>A (p.Gln678Lys) c.2779C>A (p.Gln927Lys) | |
| 16 | g.3770666C>A | CA493394794 | CREBBP | c.2784G>T (p.Pro928=) c.2670G>T (p.Pro890=) c.1389G>T (p.Pro463=) n.38G>T c.2739G>T (p.Pro913=) c.2464-1313G>T (n.2464-1313G>T) c.2730G>T (p.Pro910=) c.2031G>T (p.Pro677=) c.2778G>T (p.Pro926=) | |
| 16 | g.3770666C= | CA2202950822 | CREBBP | c.2784G= (p.Pro928=) c.2670G= (p.Pro890=) c.1389G= (p.Pro463=) n.38G= c.2739G= (p.Pro913=) c.2464-1313G= (n.2464-1313G=) c.2730G= (p.Pro910=) c.2031G= (p.Pro677=) c.2778G= (p.Pro926=) | |
| 16 | g.3770666C>G | CA493394795 | CREBBP | c.2784G>C (p.Pro928=) c.2670G>C (p.Pro890=) c.1389G>C (p.Pro463=) n.38G>C c.2739G>C (p.Pro913=) c.2464-1313G>C (n.2464-1313G>C) c.2730G>C (p.Pro910=) c.2031G>C (p.Pro677=) c.2778G>C (p.Pro926=) | |
| 16 | g.3770666C>T | CA171790 | CREBBP | c.2784G>A (p.Pro928=) c.2670G>A (p.Pro890=) c.1389G>A (p.Pro463=) n.38G>A c.2739G>A (p.Pro913=) c.2464-1313G>A (n.2464-1313G>A) c.2730G>A (p.Pro910=) c.2031G>A (p.Pro677=) c.2778G>A (p.Pro926=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3770667G>A | CA7870039 | CREBBP | c.2783C>T (p.Pro928Leu) c.2669C>T (p.Pro890Leu) c.1388C>T (p.Pro463Leu) n.37C>T c.2738C>T (p.Pro913Leu) c.2464-1314C>T (n.2464-1314C>T) c.2729C>T (p.Pro910Leu) c.2030C>T (p.Pro677Leu) c.2777C>T (p.Pro926Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3770667G>C | CA394550787 | CREBBP | c.2783C>G (p.Pro928Arg) c.2669C>G (p.Pro890Arg) c.1388C>G (p.Pro463Arg) n.37C>G c.2738C>G (p.Pro913Arg) c.2464-1314C>G (n.2464-1314C>G) c.2729C>G (p.Pro910Arg) c.2030C>G (p.Pro677Arg) c.2777C>G (p.Pro926Arg) | dbSNP |
| 16 | g.3770667G= | CA2202950823 | CREBBP | c.2783C= (p.Pro928=) c.2669C= (p.Pro890=) c.1388C= (p.Pro463=) n.37C= c.2738C= (p.Pro913=) c.2464-1314C= (n.2464-1314C=) c.2729C= (p.Pro910=) c.2030C= (p.Pro677=) c.2777C= (p.Pro926=) | |
| 16 | g.3770667G>T | CA394550790 | CREBBP | c.2783C>A (p.Pro928Gln) c.2669C>A (p.Pro890Gln) c.1388C>A (p.Pro463Gln) n.37C>A c.2738C>A (p.Pro913Gln) c.2464-1314C>A (n.2464-1314C>A) c.2729C>A (p.Pro910Gln) c.2030C>A (p.Pro677Gln) c.2777C>A (p.Pro926Gln) | dbSNP |
| 16 | g.3770668G>A | CA394550791 | CREBBP | c.2782C>T (p.Pro928Ser) c.2668C>T (p.Pro890Ser) c.1387C>T (p.Pro463Ser) n.36C>T c.2737C>T (p.Pro913Ser) c.2464-1315C>T (n.2464-1315C>T) c.2728C>T (p.Pro910Ser) c.2029C>T (p.Pro677Ser) c.2776C>T (p.Pro926Ser) | dbSNP COSMIC |
| 16 | g.3770668G>C | CA394550793 | CREBBP | c.2782C>G (p.Pro928Ala) c.2668C>G (p.Pro890Ala) c.1387C>G (p.Pro463Ala) n.36C>G c.2737C>G (p.Pro913Ala) c.2464-1315C>G (n.2464-1315C>G) c.2728C>G (p.Pro910Ala) c.2029C>G (p.Pro677Ala) c.2776C>G (p.Pro926Ala) | dbSNP |
| 16 | g.3770668G>T | CA394550795 | CREBBP | c.2782C>A (p.Pro928Thr) c.2668C>A (p.Pro890Thr) c.1387C>A (p.Pro463Thr) n.36C>A c.2737C>A (p.Pro913Thr) c.2464-1315C>A (n.2464-1315C>A) c.2728C>A (p.Pro910Thr) c.2029C>A (p.Pro677Thr) c.2776C>A (p.Pro926Thr) | dbSNP COSMIC |
| 16 | g.3770669G>A | CA493394801 | CREBBP | c.2781C>T (p.Thr927=) c.2667C>T (p.Thr889=) c.1386C>T (p.Thr462=) n.35C>T c.2736C>T (p.Thr912=) c.2464-1316C>T (n.2464-1316C>T) c.2727C>T (p.Thr909=) c.2028C>T (p.Thr676=) c.2775C>T (p.Thr925=) | dbSNP gnomAD v4 |
| 16 | g.3770669G>C | CA493394802 | CREBBP | c.2781C>G (p.Thr927=) c.2667C>G (p.Thr889=) c.1386C>G (p.Thr462=) n.35C>G c.2736C>G (p.Thr912=) c.2464-1316C>G (n.2464-1316C>G) c.2727C>G (p.Thr909=) c.2028C>G (p.Thr676=) c.2775C>G (p.Thr925=) | dbSNP |
| 16 | g.3770669G>T | CA493394800 | CREBBP | c.2781C>A (p.Thr927=) c.2667C>A (p.Thr889=) c.1386C>A (p.Thr462=) n.35C>A c.2736C>A (p.Thr912=) c.2464-1316C>A (n.2464-1316C>A) c.2727C>A (p.Thr909=) c.2028C>A (p.Thr676=) c.2775C>A (p.Thr925=) | dbSNP |
| 16 | g.3770670G>A | CA394550797 | CREBBP | c.2780C>T (p.Thr927Ile) c.2666C>T (p.Thr889Ile) c.1385C>T (p.Thr462Ile) n.34C>T c.2735C>T (p.Thr912Ile) c.2464-1317C>T (n.2464-1317C>T) c.2726C>T (p.Thr909Ile) c.2027C>T (p.Thr676Ile) c.2774C>T (p.Thr925Ile) | dbSNP gnomAD v4 |
| 16 | g.3770670G>C | CA394550800 | CREBBP | c.2780C>G (p.Thr927Ser) c.2666C>G (p.Thr889Ser) c.1385C>G (p.Thr462Ser) n.34C>G c.2735C>G (p.Thr912Ser) c.2464-1317C>G (n.2464-1317C>G) c.2726C>G (p.Thr909Ser) c.2027C>G (p.Thr676Ser) c.2774C>G (p.Thr925Ser) | dbSNP |
| 16 | g.3770670G= | CA2202950824 | CREBBP | c.2780C= (p.Thr927=) c.2666C= (p.Thr889=) c.1385C= (p.Thr462=) n.34C= c.2735C= (p.Thr912=) c.2464-1317C= (n.2464-1317C=) c.2726C= (p.Thr909=) c.2027C= (p.Thr676=) c.2774C= (p.Thr925=) | |
| 16 | g.3770670G>T | CA394550802 | CREBBP | c.2780C>A (p.Thr927Asn) c.2666C>A (p.Thr889Asn) c.1385C>A (p.Thr462Asn) n.34C>A c.2735C>A (p.Thr912Asn) c.2464-1317C>A (n.2464-1317C>A) c.2726C>A (p.Thr909Asn) c.2027C>A (p.Thr676Asn) c.2774C>A (p.Thr925Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3770671T>A | CA394550804 | CREBBP | c.2779A>T (p.Thr927Ser) c.2665A>T (p.Thr889Ser) c.1384A>T (p.Thr462Ser) n.33A>T c.2734A>T (p.Thr912Ser) c.2464-1318A>T (n.2464-1318A>T) c.2725A>T (p.Thr909Ser) c.2026A>T (p.Thr676Ser) c.2773A>T (p.Thr925Ser) | dbSNP |
| 16 | g.3770671T>C | CA394550806 | CREBBP | c.2779A>G (p.Thr927Ala) c.2665A>G (p.Thr889Ala) c.1384A>G (p.Thr462Ala) n.33A>G c.2734A>G (p.Thr912Ala) c.2464-1318A>G (n.2464-1318A>G) c.2725A>G (p.Thr909Ala) c.2026A>G (p.Thr676Ala) c.2773A>G (p.Thr925Ala) | dbSNP |
| 16 | g.3770671T>G | CA394550807 | CREBBP | c.2779A>C (p.Thr927Pro) c.2665A>C (p.Thr889Pro) c.1384A>C (p.Thr462Pro) n.33A>C c.2734A>C (p.Thr912Pro) c.2464-1318A>C (n.2464-1318A>C) c.2725A>C (p.Thr909Pro) c.2026A>C (p.Thr676Pro) c.2773A>C (p.Thr925Pro) | dbSNP gnomAD v4 |
| 16 | g.3770671T= | CA2202950826 | CREBBP | c.2779A= (p.Thr927=) c.2665A= (p.Thr889=) c.1384A= (p.Thr462=) n.33A= c.2734A= (p.Thr912=) c.2464-1318A= (n.2464-1318A=) c.2725A= (p.Thr909=) c.2026A= (p.Thr676=) c.2773A= (p.Thr925=) | |
| 16 | g.3770671_3770677delinsTCACCTG | CA2202950825 | CREBBP | c.2773_2779delinsCAGGTGA (p.Gln925=) c.2659_2665delinsCAGGTGA (p.Gln887=) c.1378_1384delinsCAGGTGA (p.Gln460=) n.27_33delinsCAGGTGA c.2728_2734delinsCAGGTGA (p.Gln910=) c.2464-1324_2464-1318delinsCAGGTGA (n.2464-1324_2464-1318delinsCAGGTGA) c.2719_2725delinsCAGGTGA (p.Gln907=) c.2020_2026delinsCAGGTGA (p.Gln674=) c.2767_2773delinsCAGGTGA (p.Gln923=) | |
| 16 | g.3770672C>A | CA493394807 | CREBBP | c.2778G>T (p.Val926=) c.2664G>T (p.Val888=) c.1383G>T (p.Val461=) n.32G>T c.2733G>T (p.Val911=) c.2464-1319G>T (n.2464-1319G>T) c.2724G>T (p.Val908=) c.2025G>T (p.Val675=) c.2772G>T (p.Val924=) | ClinVar dbSNP |
| 16 | g.3770672C= | CA2202950827 | CREBBP | c.2778G= (p.Val926=) c.2664G= (p.Val888=) c.1383G= (p.Val461=) n.32G= c.2733G= (p.Val911=) c.2464-1319G= (n.2464-1319G=) c.2724G= (p.Val908=) c.2025G= (p.Val675=) c.2772G= (p.Val924=) |