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 |
|---|---|---|---|---|---|
| 7 | g.66633410C>A | CA455937364 | KCTD7 | c.280C>A (p.Arg94=) c.258C>A c.144+4202C>A (n.144+4202C>A) c.139+4202C>A c.118+4202C>A c.150C>A | |
| 7 | g.66633410C= | CA1714174506 | KCTD7 | c.280C= (p.Arg94=) c.258C= c.144+4202C= (n.144+4202C=) c.139+4202C= c.118+4202C= c.150C= | |
| 7 | g.66633410C>G | CA367695708 | KCTD7 | c.280C>G (p.Arg94Gly) c.258C>G c.144+4202C>G (n.144+4202C>G) c.139+4202C>G c.118+4202C>G c.150C>G | |
| 7 | g.66633410C>T | CA130028 | KCTD7 | c.280C>T (p.Arg94Trp) c.258C>T c.144+4202C>T (n.144+4202C>T) c.139+4202C>T c.118+4202C>T c.150C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66633411G>A | CA160219747 | KCTD7 | c.281G>A (p.Arg94Gln) c.259G>A c.144+4203G>A (n.144+4203G>A) c.139+4203G>A c.118+4203G>A c.151G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66633411G>C | CA367695710 | KCTD7 | c.281G>C (p.Arg94Pro) c.259G>C c.144+4203G>C (n.144+4203G>C) c.139+4203G>C c.118+4203G>C c.151G>C | |
| 7 | g.66633411G= | CA1714174507 | KCTD7 | c.281G= (p.Arg94=) c.259G= c.144+4203G= (n.144+4203G=) c.139+4203G= c.118+4203G= c.151G= | |
| 7 | g.66633411G>T | CA367695709 | KCTD7 | c.281G>T (p.Arg94Leu) c.259G>T c.144+4203G>T (n.144+4203G>T) c.139+4203G>T c.118+4203G>T c.151G>T | |
| 7 | g.66633411_66633413dup | CA2578900510 | KCTD7 | c.281_283dup (p.Arg94_Tyr95insTrp) c.259_261dup c.144+4203_144+4205dup (n.144+4203_144+4205dup) c.139+4203_139+4205dup c.118+4203_118+4205dup c.151_153dup | |
| 7 | g.66633412G>A | CA455937374 | KCTD7 | c.282G>A (p.Arg94=) c.260G>A c.144+4204G>A (n.144+4204G>A) c.139+4204G>A c.118+4204G>A c.152G>A | gnomAD v4 |
| 7 | g.66633412G>C | CA455937372 | KCTD7 | c.282G>C (p.Arg94=) c.260G>C c.144+4204G>C (n.144+4204G>C) c.139+4204G>C c.118+4204G>C c.152G>C | |
| 7 | g.66633412G>T | CA455937371 | KCTD7 | c.282G>T (p.Arg94=) c.260G>T c.144+4204G>T (n.144+4204G>T) c.139+4204G>T c.118+4204G>T c.152G>T | |
| 7 | g.66633413T>A | CA367695711 | KCTD7 | c.283T>A (p.Tyr95Asn) c.261T>A c.144+4205T>A (n.144+4205T>A) c.139+4205T>A c.118+4205T>A c.153T>A | |
| 7 | g.66633413T>C | CA367695713 | KCTD7 | c.283T>C (p.Tyr95His) c.261T>C c.144+4205T>C (n.144+4205T>C) c.139+4205T>C c.118+4205T>C c.153T>C | |
| 7 | g.66633413T>G | CA367695712 | KCTD7 | c.283T>G (p.Tyr95Asp) c.261T>G c.144+4205T>G (n.144+4205T>G) c.139+4205T>G c.118+4205T>G c.153T>G | |
| 7 | g.66633414A>C | CA367695714 | KCTD7 | c.284A>C (p.Tyr95Ser) c.262A>C c.144+4206A>C (n.144+4206A>C) c.139+4206A>C c.118+4206A>C c.154A>C | |
| 7 | g.66633414A>G | CA367695715 | KCTD7 | c.284A>G (p.Tyr95Cys) c.262A>G c.144+4206A>G (n.144+4206A>G) c.139+4206A>G c.118+4206A>G c.154A>G | |
| 7 | g.66633414A>T | CA367695716 | KCTD7 | c.284A>T (p.Tyr95Phe) c.262A>T c.144+4206A>T (n.144+4206A>T) c.139+4206A>T c.118+4206A>T c.154A>T | |
| 7 | g.66633415C>A | CA367695717 | KCTD7 | c.285C>A (p.Tyr95Ter) c.263C>A c.144+4207C>A (n.144+4207C>A) c.139+4207C>A c.118+4207C>A c.155C>A | |
| 7 | g.66633415C= | CA1714174508 | KCTD7 | c.285C= (p.Tyr95=) c.263C= c.144+4207C= (n.144+4207C=) c.139+4207C= c.118+4207C= c.155C= | |
| 7 | g.66633415C>G | CA367695718 | KCTD7 | c.285C>G (p.Tyr95Ter) c.263C>G c.144+4207C>G (n.144+4207C>G) c.139+4207C>G c.118+4207C>G c.155C>G | dbSNP |
| 7 | g.66633415C>T | CA455937385 | KCTD7 | c.285C>T (p.Tyr95=) c.263C>T c.144+4207C>T (n.144+4207C>T) c.139+4207C>T c.118+4207C>T c.155C>T | ClinVar dbSNP |
| 7 | g.66633416T>A | CA367695719 | KCTD7 | c.286T>A (p.Phe96Ile) c.264T>A c.144+4208T>A (n.144+4208T>A) c.139+4208T>A c.118+4208T>A c.156T>A | |
| 7 | g.66633416T>C | CA367695720 | KCTD7 | c.286T>C (p.Phe96Leu) c.264T>C c.144+4208T>C (n.144+4208T>C) c.139+4208T>C c.118+4208T>C c.156T>C | |
| 7 | g.66633416T>G | CA367695721 | KCTD7 | c.286T>G (p.Phe96Val) c.264T>G c.144+4208T>G (n.144+4208T>G) c.139+4208T>G c.118+4208T>G c.156T>G | |
| 7 | g.66633417T>A | CA367695722 | KCTD7 | c.287T>A (p.Phe96Tyr) c.265T>A c.144+4209T>A (n.144+4209T>A) c.139+4209T>A c.118+4209T>A c.157T>A | |
| 7 | g.66633417T>C | CA367695723 | KCTD7 | c.287T>C (p.Phe96Ser) c.265T>C c.144+4209T>C (n.144+4209T>C) c.139+4209T>C c.118+4209T>C c.157T>C | |
| 7 | g.66633417T>G | CA367695724 | KCTD7 | c.287T>G (p.Phe96Cys) c.265T>G c.144+4209T>G (n.144+4209T>G) c.139+4209T>G c.118+4209T>G c.157T>G | |
| 7 | g.66633418C>A | CA367695726 | KCTD7 | c.288C>A (p.Phe96Leu) c.266C>A c.144+4210C>A (n.144+4210C>A) c.139+4210C>A c.118+4210C>A c.158C>A | gnomAD v4 |
| 7 | g.66633418C= | CA1714174509 | KCTD7 | c.288C= (p.Phe96=) c.266C= c.144+4210C= (n.144+4210C=) c.139+4210C= c.118+4210C= c.158C= | |
| 7 | g.66633418C>G | CA367695725 | KCTD7 | c.288C>G (p.Phe96Leu) c.266C>G c.144+4210C>G (n.144+4210C>G) c.139+4210C>G c.118+4210C>G c.158C>G | |
| 7 | g.66633418C>T | CA455937397 | KCTD7 | c.288C>T (p.Phe96=) c.266C>T c.144+4210C>T (n.144+4210C>T) c.139+4210C>T c.118+4210C>T c.158C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.66633419A= | CA1714174510 | KCTD7 | c.289A= (p.Ile97=) c.267A= c.144+4211A= (n.144+4211A=) c.139+4211A= c.118+4211A= c.159A= | |
| 7 | g.66633419A>C | CA367695727 | KCTD7 | c.289A>C (p.Ile97Leu) c.267A>C c.144+4211A>C (n.144+4211A>C) c.139+4211A>C c.118+4211A>C c.159A>C | |
| 7 | g.66633419A>G | CA367695728 | KCTD7 | c.289A>G (p.Ile97Val) c.267A>G c.144+4211A>G (n.144+4211A>G) c.139+4211A>G c.118+4211A>G c.159A>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.66633419A>T | CA367695729 | KCTD7 | c.289A>T (p.Ile97Phe) c.267A>T c.144+4211A>T (n.144+4211A>T) c.139+4211A>T c.118+4211A>T c.159A>T | |
| 7 | g.66633420T>A | CA367695730 | KCTD7 | c.290T>A (p.Ile97Asn) c.268T>A c.144+4212T>A (n.144+4212T>A) c.139+4212T>A c.118+4212T>A c.160T>A | |
| 7 | g.66633420T>C | CA367695731 | KCTD7 | c.290T>C (p.Ile97Thr) c.268T>C c.144+4212T>C (n.144+4212T>C) c.139+4212T>C c.118+4212T>C c.160T>C | |
| 7 | g.66633420T>G | CA367695732 | KCTD7 | c.290T>G (p.Ile97Ser) c.268T>G c.144+4212T>G (n.144+4212T>G) c.139+4212T>G c.118+4212T>G c.160T>G | |
| 7 | g.66633421C>A | CA455937404 | KCTD7 | c.291C>A (p.Ile97=) c.269C>A c.144+4213C>A (n.144+4213C>A) c.139+4213C>A c.118+4213C>A c.161C>A | |
| 7 | g.66633421C= | CA1714174511 | KCTD7 | c.291C= (p.Ile97=) c.269C= c.144+4213C= (n.144+4213C=) c.139+4213C= c.118+4213C= c.161C= | |
| 7 | g.66633421C>G | CA367695733 | KCTD7 | c.291C>G (p.Ile97Met) c.269C>G c.144+4213C>G (n.144+4213C>G) c.139+4213C>G c.118+4213C>G c.161C>G | |
| 7 | g.66633421C>T | CA4278217 | KCTD7 | c.291C>T (p.Ile97=) c.269C>T c.144+4213C>T (n.144+4213C>T) c.139+4213C>T c.118+4213C>T c.161C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.66633422G>A | CA367695734 | KCTD7 | c.292G>A (p.Asp98Asn) c.270G>A c.144+4214G>A (n.144+4214G>A) c.139+4214G>A c.118+4214G>A c.162G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.66633422G>C | CA367695735 | KCTD7 | c.292G>C (p.Asp98His) c.270G>C c.144+4214G>C (n.144+4214G>C) c.139+4214G>C c.118+4214G>C c.162G>C | |
| 7 | g.66633422G= | CA1714174512 | KCTD7 | c.292G= (p.Asp98=) c.270G= c.144+4214G= (n.144+4214G=) c.139+4214G= c.118+4214G= c.162G= | |
| 7 | g.66633422G>T | CA367695736 | KCTD7 | c.292G>T (p.Asp98Tyr) c.270G>T c.144+4214G>T (n.144+4214G>T) c.139+4214G>T c.118+4214G>T c.162G>T | |
| 7 | g.66633423A>C | CA367695738 | KCTD7 | c.293A>C (p.Asp98Ala) c.271A>C c.144+4215A>C (n.144+4215A>C) c.139+4215A>C c.118+4215A>C c.163A>C | |
| 7 | g.66633423A>G | CA367695739 | KCTD7 | c.293A>G (p.Asp98Gly) c.271A>G c.144+4215A>G (n.144+4215A>G) c.139+4215A>G c.118+4215A>G c.163A>G | gnomAD v4 |
| 7 | g.66633423A>T | CA367695737 | KCTD7 | c.293A>T (p.Asp98Val) c.271A>T c.144+4215A>T (n.144+4215A>T) c.139+4215A>T c.118+4215A>T c.163A>T |