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 |
|---|---|---|---|---|---|
| 8 | g.60850502_60850510dup | CA2573143253 | CHD7 | c.5414_5422dup (p.Ser1808Ter) c.1717-11727_1717-11719dup (n.1717-11727_1717-11719dup) c.5504_5512dup (p.Ser1838Ter) c.3491_3499dup (p.Ser1167Ter) c.3041_3049dup (p.Ser1017Ter) c.2249_2257dup (p.Ser753Ter) | ClinVar dbSNP |
| 8 | g.60850506C>A | CA371321502 | CHD7 | c.5418C>A (p.Tyr1806Ter) c.1717-11723C>A (n.1717-11723C>A) c.5508C>A (p.Tyr1836Ter) c.3495C>A (p.Tyr1165Ter) c.3045C>A (p.Tyr1015Ter) c.2253C>A (p.Tyr751Ter) | |
| 8 | g.60850506C= | CA1788137713 | CHD7 | c.5418C= (p.Tyr1806=) c.1717-11723C= (n.1717-11723C=) c.5508C= (p.Tyr1836=) c.3495C= (p.Tyr1165=) c.3045C= (p.Tyr1015=) c.2253C= (p.Tyr751=) | |
| 8 | g.60850506C>G | CA252053 | CHD7 | c.5418C>G (p.Tyr1806Ter) c.1717-11723C>G (n.1717-11723C>G) c.5508C>G (p.Tyr1836Ter) c.3495C>G (p.Tyr1165Ter) c.3045C>G (p.Tyr1015Ter) c.2253C>G (p.Tyr751Ter) | ClinVar dbSNP |
| 8 | g.60850506C>T | CA460848704 | CHD7 | c.5418C>T (p.Tyr1806=) c.1717-11723C>T (n.1717-11723C>T) c.5508C>T (p.Tyr1836=) c.3495C>T (p.Tyr1165=) c.3045C>T (p.Tyr1015=) c.2253C>T (p.Tyr751=) | |
| 8 | g.60850507A>C | CA371321503 | CHD7 | c.5419A>C (p.Asn1807His) c.1717-11722A>C (n.1717-11722A>C) c.5509A>C (p.Asn1837His) c.3496A>C (p.Asn1166His) c.3046A>C (p.Asn1016His) c.2254A>C (p.Asn752His) | |
| 8 | g.60850507A>G | CA371321504 | CHD7 | c.5419A>G (p.Asn1807Asp) c.1717-11722A>G (n.1717-11722A>G) c.5509A>G (p.Asn1837Asp) c.3496A>G (p.Asn1166Asp) c.3046A>G (p.Asn1016Asp) c.2254A>G (p.Asn752Asp) | gnomAD v4 |
| 8 | g.60850507A>T | CA371321505 | CHD7 | c.5419A>T (p.Asn1807Tyr) c.1717-11722A>T (n.1717-11722A>T) c.5509A>T (p.Asn1837Tyr) c.3496A>T (p.Asn1166Tyr) c.3046A>T (p.Asn1016Tyr) c.2254A>T (p.Asn752Tyr) | |
| 8 | g.60850508A= | CA1788137718 | CHD7 | c.5420A= (p.Asn1807=) c.1717-11721A= (n.1717-11721A=) c.5510A= (p.Asn1837=) c.3497A= (p.Asn1166=) c.3047A= (p.Asn1016=) c.2255A= (p.Asn752=) | |
| 8 | g.60850508A>C | CA177353148 | CHD7 | c.5420A>C (p.Asn1807Thr) c.1717-11721A>C (n.1717-11721A>C) c.5510A>C (p.Asn1837Thr) c.3497A>C (p.Asn1166Thr) c.3047A>C (p.Asn1016Thr) c.2255A>C (p.Asn752Thr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60850508A>G | CA371321508 | CHD7 | c.5420A>G (p.Asn1807Ser) c.1717-11721A>G (n.1717-11721A>G) c.5510A>G (p.Asn1837Ser) c.3497A>G (p.Asn1166Ser) c.3047A>G (p.Asn1016Ser) c.2255A>G (p.Asn752Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60850508A>T | CA371321510 | CHD7 | c.5420A>T (p.Asn1807Ile) c.1717-11721A>T (n.1717-11721A>T) c.5510A>T (p.Asn1837Ile) c.3497A>T (p.Asn1166Ile) c.3047A>T (p.Asn1016Ile) c.2255A>T (p.Asn752Ile) | |
| 8 | g.60850509C>A | CA371321511 | CHD7 | c.5421C>A (p.Asn1807Lys) c.1717-11720C>A (n.1717-11720C>A) c.5511C>A (p.Asn1837Lys) c.3498C>A (p.Asn1166Lys) c.3048C>A (p.Asn1016Lys) c.2256C>A (p.Asn752Lys) | |
| 8 | g.60850509C>G | CA371321512 | CHD7 | c.5421C>G (p.Asn1807Lys) c.1717-11720C>G (n.1717-11720C>G) c.5511C>G (p.Asn1837Lys) c.3498C>G (p.Asn1166Lys) c.3048C>G (p.Asn1016Lys) c.2256C>G (p.Asn752Lys) | |
| 8 | g.60850509C>T | CA460848715 | CHD7 | c.5421C>T (p.Asn1807=) c.1717-11720C>T (n.1717-11720C>T) c.5511C>T (p.Asn1837=) c.3498C>T (p.Asn1166=) c.3048C>T (p.Asn1016=) c.2256C>T (p.Asn752=) | |
| 8 | g.60850510T>A | CA371321514 | CHD7 | c.5422T>A (p.Ser1808Thr) c.1717-11719T>A (n.1717-11719T>A) c.5512T>A (p.Ser1838Thr) c.3499T>A (p.Ser1167Thr) c.3049T>A (p.Ser1017Thr) c.2257T>A (p.Ser753Thr) | |
| 8 | g.60850510T>C | CA371321517 | CHD7 | c.5422T>C (p.Ser1808Pro) c.1717-11719T>C (n.1717-11719T>C) c.5512T>C (p.Ser1838Pro) c.3499T>C (p.Ser1167Pro) c.3049T>C (p.Ser1017Pro) c.2257T>C (p.Ser753Pro) | |
| 8 | g.60850510T>G | CA371321516 | CHD7 | c.5422T>G (p.Ser1808Ala) c.1717-11719T>G (n.1717-11719T>G) c.5512T>G (p.Ser1838Ala) c.3499T>G (p.Ser1167Ala) c.3049T>G (p.Ser1017Ala) c.2257T>G (p.Ser753Ala) | |
| 8 | g.60850511C>A | CA371321518 | CHD7 | c.5423C>A (p.Ser1808Tyr) c.1717-11718C>A (n.1717-11718C>A) c.5513C>A (p.Ser1838Tyr) c.3500C>A (p.Ser1167Tyr) c.3050C>A (p.Ser1017Tyr) c.2258C>A (p.Ser753Tyr) | |
| 8 | g.60850511C>G | CA371321519 | CHD7 | c.5423C>G (p.Ser1808Cys) c.1717-11718C>G (n.1717-11718C>G) c.5513C>G (p.Ser1838Cys) c.3500C>G (p.Ser1167Cys) c.3050C>G (p.Ser1017Cys) c.2258C>G (p.Ser753Cys) | |
| 8 | g.60850511C>T | CA371321520 | CHD7 | c.5423C>T (p.Ser1808Phe) c.1717-11718C>T (n.1717-11718C>T) c.5513C>T (p.Ser1838Phe) c.3500C>T (p.Ser1167Phe) c.3050C>T (p.Ser1017Phe) c.2258C>T (p.Ser753Phe) | gnomAD v4 |
| 8 | g.60850512C>A | CA460848723 | CHD7 | c.5424C>A (p.Ser1808=) c.1717-11717C>A (n.1717-11717C>A) c.5514C>A (p.Ser1838=) c.3501C>A (p.Ser1167=) c.3051C>A (p.Ser1017=) c.2259C>A (p.Ser753=) | |
| 8 | g.60850512C>G | CA460848725 | CHD7 | c.5424C>G (p.Ser1808=) c.1717-11717C>G (n.1717-11717C>G) c.5514C>G (p.Ser1838=) c.3501C>G (p.Ser1167=) c.3051C>G (p.Ser1017=) c.2259C>G (p.Ser753=) | |
| 8 | g.60850512C>T | CA460848727 | CHD7 | c.5424C>T (p.Ser1808=) c.1717-11717C>T (n.1717-11717C>T) c.5514C>T (p.Ser1838=) c.3501C>T (p.Ser1167=) c.3051C>T (p.Ser1017=) c.2259C>T (p.Ser753=) | |
| 8 | g.60850513A>C | CA371321522 | CHD7 | c.5425A>C (p.Met1809Leu) c.1717-11716A>C (n.1717-11716A>C) c.5515A>C (p.Met1839Leu) c.3502A>C (p.Met1168Leu) c.3052A>C (p.Met1018Leu) c.2260A>C (p.Met754Leu) | |
| 8 | g.60850513A>G | CA371321524 | CHD7 | c.5425A>G (p.Met1809Val) c.1717-11716A>G (n.1717-11716A>G) c.5515A>G (p.Met1839Val) c.3502A>G (p.Met1168Val) c.3052A>G (p.Met1018Val) c.2260A>G (p.Met754Val) | |
| 8 | g.60850513A>T | CA371321525 | CHD7 | c.5425A>T (p.Met1809Leu) c.1717-11716A>T (n.1717-11716A>T) c.5515A>T (p.Met1839Leu) c.3502A>T (p.Met1168Leu) c.3052A>T (p.Met1018Leu) c.2260A>T (p.Met754Leu) | gnomAD v4 |
| 8 | g.60850514T>A | CA371321527 | CHD7 | c.5426T>A (p.Met1809Lys) c.1717-11715T>A (n.1717-11715T>A) c.5516T>A (p.Met1839Lys) c.3503T>A (p.Met1168Lys) c.3053T>A (p.Met1018Lys) c.2261T>A (p.Met754Lys) | |
| 8 | g.60850514T>C | CA371321528 | CHD7 | c.5426T>C (p.Met1809Thr) c.1717-11715T>C (n.1717-11715T>C) c.5516T>C (p.Met1839Thr) c.3503T>C (p.Met1168Thr) c.3053T>C (p.Met1018Thr) c.2261T>C (p.Met754Thr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60850514T>G | CA371321530 | CHD7 | c.5426T>G (p.Met1809Arg) c.1717-11715T>G (n.1717-11715T>G) c.5516T>G (p.Met1839Arg) c.3503T>G (p.Met1168Arg) c.3053T>G (p.Met1018Arg) c.2261T>G (p.Met754Arg) | ClinVar dbSNP |
| 8 | g.60850514T= | CA1788137723 | CHD7 | c.5426T= (p.Met1809=) c.1717-11715T= (n.1717-11715T=) c.5516T= (p.Met1839=) c.3503T= (p.Met1168=) c.3053T= (p.Met1018=) c.2261T= (p.Met754=) | |
| 8 | g.60850515G>A | CA371321532 | CHD7 | c.5427G>A (p.Met1809Ile) c.1717-11714G>A (n.1717-11714G>A) c.5517G>A (p.Met1839Ile) c.3504G>A (p.Met1168Ile) c.3054G>A (p.Met1018Ile) c.2262G>A (p.Met754Ile) | |
| 8 | g.60850515G>C | CA371321533 | CHD7 | c.5427G>C (p.Met1809Ile) c.1717-11714G>C (n.1717-11714G>C) c.5517G>C (p.Met1839Ile) c.3504G>C (p.Met1168Ile) c.3054G>C (p.Met1018Ile) c.2262G>C (p.Met754Ile) | |
| 8 | g.60850515G>T | CA371321534 | CHD7 | c.5427G>T (p.Met1809Ile) c.1717-11714G>T (n.1717-11714G>T) c.5517G>T (p.Met1839Ile) c.3504G>T (p.Met1168Ile) c.3054G>T (p.Met1018Ile) c.2262G>T (p.Met754Ile) | |
| 8 | g.60850516C>A | CA460848737 | CHD7 | c.5428C>A (p.Arg1810=) c.1717-11713C>A (n.1717-11713C>A) c.5518C>A (p.Arg1840=) c.3505C>A (p.Arg1169=) c.3055C>A (p.Arg1019=) c.2263C>A (p.Arg755=) | |
| 8 | g.60850516C= | CA1788137728 | CHD7 | c.5428C= (p.Arg1810=) c.1717-11713C= (n.1717-11713C=) c.5518C= (p.Arg1840=) c.3505C= (p.Arg1169=) c.3055C= (p.Arg1019=) c.2263C= (p.Arg755=) | |
| 8 | g.60850516C>G | CA371321537 | CHD7 | c.5428C>G (p.Arg1810Gly) c.1717-11713C>G (n.1717-11713C>G) c.5518C>G (p.Arg1840Gly) c.3505C>G (p.Arg1169Gly) c.3055C>G (p.Arg1019Gly) c.2263C>G (p.Arg755Gly) | |
| 8 | g.60850516C>T | CA371321536 | CHD7 | c.5428C>T (p.Arg1810Ter) c.1717-11713C>T (n.1717-11713C>T) c.5518C>T (p.Arg1840Ter) c.3505C>T (p.Arg1169Ter) c.3055C>T (p.Arg1019Ter) c.2263C>T (p.Arg755Ter) | ClinVar dbSNP COSMIC |
| 8 | g.60850517G>A | CA4760369 | CHD7 | c.5429G>A (p.Arg1810Gln) c.1717-11712G>A (n.1717-11712G>A) c.5519G>A (p.Arg1840Gln) c.3506G>A (p.Arg1169Gln) c.3056G>A (p.Arg1019Gln) c.2264G>A (p.Arg755Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60850517G>C | CA371321539 | CHD7 | c.5429G>C (p.Arg1810Pro) c.1717-11712G>C (n.1717-11712G>C) c.5519G>C (p.Arg1840Pro) c.3506G>C (p.Arg1169Pro) c.3056G>C (p.Arg1019Pro) c.2264G>C (p.Arg755Pro) | |
| 8 | g.60850517G= | CA1788137732 | CHD7 | c.5429G= (p.Arg1810=) c.1717-11712G= (n.1717-11712G=) c.5519G= (p.Arg1840=) c.3506G= (p.Arg1169=) c.3056G= (p.Arg1019=) c.2264G= (p.Arg755=) | |
| 8 | g.60850517G>T | CA371321541 | CHD7 | c.5429G>T (p.Arg1810Leu) c.1717-11712G>T (n.1717-11712G>T) c.5519G>T (p.Arg1840Leu) c.3506G>T (p.Arg1169Leu) c.3056G>T (p.Arg1019Leu) c.2264G>T (p.Arg755Leu) | |
| 8 | g.60850518A>C | CA460848748 | CHD7 | c.5430A>C (p.Arg1810=) c.1717-11711A>C (n.1717-11711A>C) c.5520A>C (p.Arg1840=) c.3507A>C (p.Arg1169=) c.3057A>C (p.Arg1019=) c.2265A>C (p.Arg755=) | |
| 8 | g.60850518A>G | CA460848746 | CHD7 | c.5430A>G (p.Arg1810=) c.1717-11711A>G (n.1717-11711A>G) c.5520A>G (p.Arg1840=) c.3507A>G (p.Arg1169=) c.3057A>G (p.Arg1019=) c.2265A>G (p.Arg755=) | |
| 8 | g.60850518A>T | CA460848744 | CHD7 | c.5430A>T (p.Arg1810=) c.1717-11711A>T (n.1717-11711A>T) c.5520A>T (p.Arg1840=) c.3507A>T (p.Arg1169=) c.3057A>T (p.Arg1019=) c.2265A>T (p.Arg755=) | |
| 8 | g.60850519G>A | CA4760370 | CHD7 | c.5431G>A (p.Ala1811Thr) c.1717-11710G>A (n.1717-11710G>A) c.5521G>A (p.Ala1841Thr) c.3508G>A (p.Ala1170Thr) c.3058G>A (p.Ala1020Thr) c.2266G>A (p.Ala756Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60850519G>C | CA371321544 | CHD7 | c.5431G>C (p.Ala1811Pro) c.1717-11710G>C (n.1717-11710G>C) c.5521G>C (p.Ala1841Pro) c.3508G>C (p.Ala1170Pro) c.3058G>C (p.Ala1020Pro) c.2266G>C (p.Ala756Pro) | |
| 8 | g.60850519G= | CA1788137737 | CHD7 | c.5431G= (p.Ala1811=) c.1717-11710G= (n.1717-11710G=) c.5521G= (p.Ala1841=) c.3508G= (p.Ala1170=) c.3058G= (p.Ala1020=) c.2266G= (p.Ala756=) | |
| 8 | g.60850519G>T | CA371321545 | CHD7 | c.5431G>T (p.Ala1811Ser) c.1717-11710G>T (n.1717-11710G>T) c.5521G>T (p.Ala1841Ser) c.3508G>T (p.Ala1170Ser) c.3058G>T (p.Ala1020Ser) c.2266G>T (p.Ala756Ser) | |
| 8 | g.60850520C>A | CA371321546 | CHD7 | c.5432C>A (p.Ala1811Asp) c.1717-11709C>A (n.1717-11709C>A) c.5522C>A (p.Ala1841Asp) c.3509C>A (p.Ala1170Asp) c.3059C>A (p.Ala1020Asp) c.2267C>A (p.Ala756Asp) |