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 |
|---|---|---|---|---|---|
| 14 | g.91278091C>A | CA265523969 | CCDC88C | c.4889G>T (p.Arg1630Leu) c.461G>T (p.Arg154Leu) n.701G>T c.1117G>T c.4781G>T (p.Arg1594Leu) n.5164G>T c.1970G>T (p.Arg657Leu) n.5162G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91278091C= | CA2154908891 | CCDC88C | c.4889G= (p.Arg1630=) c.461G= (p.Arg154=) n.701G= c.1117G= c.4781G= (p.Arg1594=) n.5164G= c.1970G= (p.Arg657=) n.5162G= | |
| 14 | g.91278091C>G | CA390612381 | CCDC88C | c.4889G>C (p.Arg1630Pro) c.461G>C (p.Arg154Pro) n.701G>C c.1117G>C c.4781G>C (p.Arg1594Pro) n.5164G>C c.1970G>C (p.Arg657Pro) n.5162G>C | |
| 14 | g.91278091C>T | CA7308804 | CCDC88C | c.4889G>A (p.Arg1630His) c.461G>A (p.Arg154His) n.701G>A c.1117G>A c.4781G>A (p.Arg1594His) n.5164G>A c.1970G>A (p.Arg657His) n.5162G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91278092G>A | CA7308805 | CCDC88C | c.4888C>T (p.Arg1630Cys) c.460C>T (p.Arg154Cys) n.700C>T c.1116C>T c.4780C>T (p.Arg1594Cys) n.5163C>T c.1969C>T (p.Arg657Cys) n.5161C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91278092G>C | CA390612384 | CCDC88C | c.4888C>G (p.Arg1630Gly) c.460C>G (p.Arg154Gly) n.700C>G c.1116C>G c.4780C>G (p.Arg1594Gly) n.5163C>G c.1969C>G (p.Arg657Gly) n.5161C>G | dbSNP gnomAD v4 |
| 14 | g.91278092G= | CA2154908892 | CCDC88C | c.4888C= (p.Arg1630=) c.460C= (p.Arg154=) n.700C= c.1116C= c.4780C= (p.Arg1594=) n.5163C= c.1969C= (p.Arg657=) n.5161C= | |
| 14 | g.91278092G>T | CA390612386 | CCDC88C | c.4888C>A (p.Arg1630Ser) c.460C>A (p.Arg154Ser) n.700C>A c.1116C>A c.4780C>A (p.Arg1594Ser) n.5163C>A c.1969C>A (p.Arg657Ser) n.5161C>A | |
| 14 | g.91278093G>A | CA487540342 | CCDC88C | c.4887C>T (p.Gly1629=) c.459C>T (p.Gly153=) n.699C>T c.1115C>T c.4779C>T (p.Gly1593=) n.5162C>T c.1968C>T (p.Gly656=) n.5160C>T | gnomAD v4 |
| 14 | g.91278093G>C | CA487540340 | CCDC88C | c.4887C>G (p.Gly1629=) c.459C>G (p.Gly153=) n.699C>G c.1115C>G c.4779C>G (p.Gly1593=) n.5162C>G c.1968C>G (p.Gly656=) n.5160C>G | |
| 14 | g.91278093G>T | CA487540341 | CCDC88C | c.4887C>A (p.Gly1629=) c.459C>A (p.Gly153=) n.699C>A c.1115C>A c.4779C>A (p.Gly1593=) n.5162C>A c.1968C>A (p.Gly656=) n.5160C>A | |
| 14 | g.91278094C>A | CA390612389 | CCDC88C | c.4886G>T (p.Gly1629Val) c.458G>T (p.Gly153Val) n.698G>T c.1114G>T c.4778G>T (p.Gly1593Val) n.5161G>T c.1967G>T (p.Gly656Val) n.5159G>T | |
| 14 | g.91278094C= | CA2154908893 | CCDC88C | c.4886G= (p.Gly1629=) c.458G= (p.Gly153=) n.698G= c.1114G= c.4778G= (p.Gly1593=) n.5161G= c.1967G= (p.Gly656=) n.5159G= | |
| 14 | g.91278094C>G | CA390612390 | CCDC88C | c.4886G>C (p.Gly1629Ala) c.458G>C (p.Gly153Ala) n.698G>C c.1114G>C c.4778G>C (p.Gly1593Ala) n.5161G>C c.1967G>C (p.Gly656Ala) n.5159G>C | |
| 14 | g.91278094C>T | CA390612392 | CCDC88C | c.4886G>A (p.Gly1629Asp) c.458G>A (p.Gly153Asp) n.698G>A c.1114G>A c.4778G>A (p.Gly1593Asp) n.5161G>A c.1967G>A (p.Gly656Asp) n.5159G>A | dbSNP gnomAD v4 |
| 14 | g.91278095C>A | CA390612393 | CCDC88C | c.4885G>T (p.Gly1629Cys) c.457G>T (p.Gly153Cys) n.697G>T c.1113G>T c.4777G>T (p.Gly1593Cys) n.5160G>T c.1966G>T (p.Gly656Cys) n.5158G>T | |
| 14 | g.91278095C= | CA2154908894 | CCDC88C | c.4885G= (p.Gly1629=) c.457G= (p.Gly153=) n.697G= c.1113G= c.4777G= (p.Gly1593=) n.5160G= c.1966G= (p.Gly656=) n.5158G= | |
| 14 | g.91278095C>G | CA390612395 | CCDC88C | c.4885G>C (p.Gly1629Arg) c.457G>C (p.Gly153Arg) n.697G>C c.1113G>C c.4777G>C (p.Gly1593Arg) n.5160G>C c.1966G>C (p.Gly656Arg) n.5158G>C | |
| 14 | g.91278095C>T | CA390612397 | CCDC88C | c.4885G>A (p.Gly1629Ser) c.457G>A (p.Gly153Ser) n.697G>A c.1113G>A c.4777G>A (p.Gly1593Ser) n.5160G>A c.1966G>A (p.Gly656Ser) n.5158G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91278096G>A | CA7308806 | CCDC88C | c.4884C>T (p.Leu1628=) c.456C>T (p.Leu152=) n.696C>T c.1112C>T c.4776C>T (p.Leu1592=) n.5159C>T c.1965C>T (p.Leu655=) n.5157C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.91278096G>C | CA487540344 | CCDC88C | c.4884C>G (p.Leu1628=) c.456C>G (p.Leu152=) n.696C>G c.1112C>G c.4776C>G (p.Leu1592=) n.5159C>G c.1965C>G (p.Leu655=) n.5157C>G | |
| 14 | g.91278096G= | CA2154908895 | CCDC88C | c.4884C= (p.Leu1628=) c.456C= (p.Leu152=) n.696C= c.1112C= c.4776C= (p.Leu1592=) n.5159C= c.1965C= (p.Leu655=) n.5157C= | |
| 14 | g.91278096G>T | CA487540345 | CCDC88C | c.4884C>A (p.Leu1628=) c.456C>A (p.Leu152=) n.696C>A c.1112C>A c.4776C>A (p.Leu1592=) n.5159C>A c.1965C>A (p.Leu655=) n.5157C>A | |
| 14 | g.91278097A>C | CA390612400 | CCDC88C | c.4883T>G (p.Leu1628Arg) c.455T>G (p.Leu152Arg) n.695T>G c.1111T>G c.4775T>G (p.Leu1592Arg) n.5158T>G c.1964T>G (p.Leu655Arg) n.5156T>G | |
| 14 | g.91278097A>G | CA390612402 | CCDC88C | c.4883T>C (p.Leu1628Pro) c.455T>C (p.Leu152Pro) n.695T>C c.1111T>C c.4775T>C (p.Leu1592Pro) n.5158T>C c.1964T>C (p.Leu655Pro) n.5156T>C | |
| 14 | g.91278097A>T | CA390612404 | CCDC88C | c.4883T>A (p.Leu1628His) c.455T>A (p.Leu152His) n.695T>A c.1111T>A c.4775T>A (p.Leu1592His) n.5158T>A c.1964T>A (p.Leu655His) n.5156T>A | |
| 14 | g.91278098G>A | CA390612410 | CCDC88C | c.4882C>T (p.Leu1628Phe) c.454C>T (p.Leu152Phe) n.694C>T c.1110C>T c.4774C>T (p.Leu1592Phe) n.5157C>T c.1963C>T (p.Leu655Phe) n.5155C>T | |
| 14 | g.91278098G>C | CA390612408 | CCDC88C | c.4882C>G (p.Leu1628Val) c.454C>G (p.Leu152Val) n.694C>G c.1110C>G c.4774C>G (p.Leu1592Val) n.5157C>G c.1963C>G (p.Leu655Val) n.5155C>G | |
| 14 | g.91278098G>T | CA390612407 | CCDC88C | c.4882C>A (p.Leu1628Ile) c.454C>A (p.Leu152Ile) n.694C>A c.1110C>A c.4774C>A (p.Leu1592Ile) n.5157C>A c.1963C>A (p.Leu655Ile) n.5155C>A | |
| 14 | g.91278100dup | CA2626124458 | CCDC88C | c.4882dup (p.Leu1628ProfsTer?) c.454dup (p.Leu152ProfsTer?) n.694dup c.1110dup c.4774dup (p.Leu1592ProfsTer?) n.5157dup c.1963dup (p.Leu655ProfsTer?) n.5155dup | gnomAD v4 |
| 14 | g.91278099G>A | CA487540348 | CCDC88C | c.4881C>T (p.Ala1627=) c.453C>T (p.Ala151=) n.693C>T c.1109C>T c.4773C>T (p.Ala1591=) n.5156C>T c.1962C>T (p.Ala654=) n.5154C>T | gnomAD v4 |
| 14 | g.91278099G>C | CA487540346 | CCDC88C | c.4881C>G (p.Ala1627=) c.453C>G (p.Ala151=) n.693C>G c.1109C>G c.4773C>G (p.Ala1591=) n.5156C>G c.1962C>G (p.Ala654=) n.5154C>G | gnomAD v4 |
| 14 | g.91278099G>T | CA487540347 | CCDC88C | c.4881C>A (p.Ala1627=) c.453C>A (p.Ala151=) n.693C>A c.1109C>A c.4773C>A (p.Ala1591=) n.5156C>A c.1962C>A (p.Ala654=) n.5154C>A | |
| 14 | g.91278100G>A | CA390612413 | CCDC88C | c.4880C>T (p.Ala1627Val) c.452C>T (p.Ala151Val) n.692C>T c.1108C>T c.4772C>T (p.Ala1591Val) n.5155C>T c.1961C>T (p.Ala654Val) n.5153C>T | gnomAD v4 |
| 14 | g.91278100G>C | CA390612414 | CCDC88C | c.4880C>G (p.Ala1627Gly) c.452C>G (p.Ala151Gly) n.692C>G c.1108C>G c.4772C>G (p.Ala1591Gly) n.5155C>G c.1961C>G (p.Ala654Gly) n.5153C>G | |
| 14 | g.91278100G>T | CA390612415 | CCDC88C | c.4880C>A (p.Ala1627Asp) c.452C>A (p.Ala151Asp) n.692C>A c.1108C>A c.4772C>A (p.Ala1591Asp) n.5155C>A c.1961C>A (p.Ala654Asp) n.5153C>A | |
| 14 | g.91278101C>A | CA390612417 | CCDC88C | c.4879G>T (p.Ala1627Ser) c.451G>T (p.Ala151Ser) n.691G>T c.1107G>T c.4771G>T (p.Ala1591Ser) n.5154G>T c.1960G>T (p.Ala654Ser) n.5152G>T | |
| 14 | g.91278101C= | CA2154908896 | CCDC88C | c.4879G= (p.Ala1627=) c.451G= (p.Ala151=) n.691G= c.1107G= c.4771G= (p.Ala1591=) n.5154G= c.1960G= (p.Ala654=) n.5152G= | |
| 14 | g.91278101C>G | CA390612419 | CCDC88C | c.4879G>C (p.Ala1627Pro) c.451G>C (p.Ala151Pro) n.691G>C c.1107G>C c.4771G>C (p.Ala1591Pro) n.5154G>C c.1960G>C (p.Ala654Pro) n.5152G>C | dbSNP gnomAD v2 |
| 14 | g.91278101C>T | CA390612421 | CCDC88C | c.4879G>A (p.Ala1627Thr) c.451G>A (p.Ala151Thr) n.691G>A c.1107G>A c.4771G>A (p.Ala1591Thr) n.5154G>A c.1960G>A (p.Ala654Thr) n.5152G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91278102G>A | CA487540349 | CCDC88C | c.4878C>T (p.Asn1626=) c.450C>T (p.Asn150=) n.690C>T c.1106C>T c.4770C>T (p.Asn1590=) n.5153C>T c.1959C>T (p.Asn653=) n.5151C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.91278102G>C | CA390612423 | CCDC88C | c.4878C>G (p.Asn1626Lys) c.450C>G (p.Asn150Lys) n.690C>G c.1106C>G c.4770C>G (p.Asn1590Lys) n.5153C>G c.1959C>G (p.Asn653Lys) n.5151C>G | |
| 14 | g.91278102G= | CA2154908897 | CCDC88C | c.4878C= (p.Asn1626=) c.450C= (p.Asn150=) n.690C= c.1106C= c.4770C= (p.Asn1590=) n.5153C= c.1959C= (p.Asn653=) n.5151C= | |
| 14 | g.91278102G>T | CA390612425 | CCDC88C | c.4878C>A (p.Asn1626Lys) c.450C>A (p.Asn150Lys) n.690C>A c.1106C>A c.4770C>A (p.Asn1590Lys) n.5153C>A c.1959C>A (p.Asn653Lys) n.5151C>A | |
| 14 | g.91278103T>A | CA390612426 | CCDC88C | c.4877A>T (p.Asn1626Ile) c.449A>T (p.Asn150Ile) n.689A>T c.1105A>T c.4769A>T (p.Asn1590Ile) n.5152A>T c.1958A>T (p.Asn653Ile) n.5150A>T | |
| 14 | g.91278103T>C | CA390612427 | CCDC88C | c.4877A>G (p.Asn1626Ser) c.449A>G (p.Asn150Ser) n.689A>G c.1105A>G c.4769A>G (p.Asn1590Ser) n.5152A>G c.1958A>G (p.Asn653Ser) n.5150A>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91278103T>G | CA390612428 | CCDC88C | c.4877A>C (p.Asn1626Thr) c.449A>C (p.Asn150Thr) n.689A>C c.1105A>C c.4769A>C (p.Asn1590Thr) n.5152A>C c.1958A>C (p.Asn653Thr) n.5150A>C | |
| 14 | g.91278103T= | CA2154908898 | CCDC88C | c.4877A= (p.Asn1626=) c.449A= (p.Asn150=) n.689A= c.1105A= c.4769A= (p.Asn1590=) n.5152A= c.1958A= (p.Asn653=) n.5150A= | |
| 14 | g.91278104T>A | CA390612431 | CCDC88C | c.4876A>T (p.Asn1626Tyr) c.448A>T (p.Asn150Tyr) n.688A>T c.1104A>T c.4768A>T (p.Asn1590Tyr) n.5151A>T c.1957A>T (p.Asn653Tyr) n.5149A>T | |
| 14 | g.91278104T>C | CA390612430 | CCDC88C | c.4876A>G (p.Asn1626Asp) c.448A>G (p.Asn150Asp) n.688A>G c.1104A>G c.4768A>G (p.Asn1590Asp) n.5151A>G c.1957A>G (p.Asn653Asp) n.5149A>G |