UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.66633310T>A | CA455936961 | KCTD7 | c.180T>A (p.Ala60=) c.158T>A c.144+4102T>A (n.144+4102T>A) c.139+4102T>A c.118+4102T>A c.50T>A | |
| 7 | g.66633310T>C | CA455936963 | KCTD7 | c.180T>C (p.Ala60=) c.158T>C c.144+4102T>C (n.144+4102T>C) c.139+4102T>C c.118+4102T>C c.50T>C | |
| 7 | g.66633310T>G | CA455936965 | KCTD7 | c.180T>G (p.Ala60=) c.158T>G c.144+4102T>G (n.144+4102T>G) c.139+4102T>G c.118+4102T>G c.50T>G | |
| 7 | g.66633311C>A | CA367695506 | KCTD7 | c.181C>A (p.His61Asn) c.159C>A c.144+4103C>A (n.144+4103C>A) c.139+4103C>A c.118+4103C>A c.51C>A | |
| 7 | g.66633311C= | CA1714174460 | KCTD7 | c.181C= (p.His61=) c.159C= c.144+4103C= (n.144+4103C=) c.139+4103C= c.118+4103C= c.51C= | |
| 7 | g.66633311C>G | CA367695507 | KCTD7 | c.181C>G (p.His61Asp) c.159C>G c.144+4103C>G (n.144+4103C>G) c.139+4103C>G c.118+4103C>G c.51C>G | ClinVar dbSNP |
| 7 | g.66633311C>T | CA4278193 | KCTD7 | c.181C>T (p.His61Tyr) c.159C>T c.144+4103C>T (n.144+4103C>T) c.139+4103C>T c.118+4103C>T c.51C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66633312A= | CA1714174461 | KCTD7 | c.182A= (p.His61=) c.160A= c.144+4104A= (n.144+4104A=) c.139+4104A= c.118+4104A= c.52A= | |
| 7 | g.66633312A>C | CA367695508 | KCTD7 | c.182A>C (p.His61Pro) c.160A>C c.144+4104A>C (n.144+4104A>C) c.139+4104A>C c.118+4104A>C c.52A>C | |
| 7 | g.66633312A>G | CA4278194 | KCTD7 | c.182A>G (p.His61Arg) c.160A>G c.144+4104A>G (n.144+4104A>G) c.139+4104A>G c.118+4104A>G c.52A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66633312A>T | CA367695509 | KCTD7 | c.182A>T (p.His61Leu) c.160A>T c.144+4104A>T (n.144+4104A>T) c.139+4104A>T c.118+4104A>T c.52A>T | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.66633313C>A | CA367695510 | KCTD7 | c.183C>A (p.His61Gln) c.161C>A c.144+4105C>A (n.144+4105C>A) c.139+4105C>A c.118+4105C>A c.53C>A | |
| 7 | g.66633313C>G | CA367695511 | KCTD7 | c.183C>G (p.His61Gln) c.161C>G c.144+4105C>G (n.144+4105C>G) c.139+4105C>G c.118+4105C>G c.53C>G | gnomAD v4 |
| 7 | g.66633313C>T | CA455936978 | KCTD7 | c.183C>T (p.His61=) c.161C>T c.144+4105C>T (n.144+4105C>T) c.139+4105C>T c.118+4105C>T c.53C>T | |
| 7 | g.66633314T>A | CA367695512 | KCTD7 | c.184T>A (p.Phe62Ile) c.162T>A c.144+4106T>A (n.144+4106T>A) c.139+4106T>A c.118+4106T>A c.54T>A | |
| 7 | g.66633314T>C | CA367695513 | KCTD7 | c.184T>C (p.Phe62Leu) c.162T>C c.144+4106T>C (n.144+4106T>C) c.139+4106T>C c.118+4106T>C c.54T>C | |
| 7 | g.66633314T>G | CA367695514 | KCTD7 | c.184T>G (p.Phe62Val) c.162T>G c.144+4106T>G (n.144+4106T>G) c.139+4106T>G c.118+4106T>G c.54T>G | |
| 7 | g.66633315T>A | CA367695515 | KCTD7 | c.185T>A (p.Phe62Tyr) c.163T>A c.144+4107T>A (n.144+4107T>A) c.139+4107T>A c.118+4107T>A c.55T>A | |
| 7 | g.66633315T>C | CA367695516 | KCTD7 | c.185T>C (p.Phe62Ser) c.163T>C c.144+4107T>C (n.144+4107T>C) c.139+4107T>C c.118+4107T>C c.55T>C | |
| 7 | g.66633315T>G | CA367695517 | KCTD7 | c.185T>G (p.Phe62Cys) c.163T>G c.144+4107T>G (n.144+4107T>G) c.139+4107T>G c.118+4107T>G c.55T>G | |
| 7 | g.66633315_66633316delinsCT | CA2580077290 | KCTD7 | c.185_186delinsCT (p.Phe62Ser) c.163_164delinsCT c.144+4107_144+4108delinsCT (n.144+4107_144+4108delinsCT) c.139+4107_139+4108delinsCT c.118+4107_118+4108delinsCT c.55_56delinsCT | ClinVar |
| 7 | g.66633316C>A | CA367695518 | KCTD7 | c.186C>A (p.Phe62Leu) c.164C>A c.144+4108C>A (n.144+4108C>A) c.139+4108C>A c.118+4108C>A c.56C>A | |
| 7 | g.66633316C>G | CA367695519 | KCTD7 | c.186C>G (p.Phe62Leu) c.164C>G c.144+4108C>G (n.144+4108C>G) c.139+4108C>G c.118+4108C>G c.56C>G | |
| 7 | g.66633316C>T | CA455936987 | KCTD7 | c.186C>T (p.Phe62=) c.164C>T c.144+4108C>T (n.144+4108C>T) c.139+4108C>T c.118+4108C>T c.56C>T | |
| 7 | g.66633317A>C | CA367695520 | KCTD7 | c.187A>C (p.Thr63Pro) c.165A>C c.144+4109A>C (n.144+4109A>C) c.139+4109A>C c.118+4109A>C c.57A>C | |
| 7 | g.66633317A>G | CA367695521 | KCTD7 | c.187A>G (p.Thr63Ala) c.165A>G c.144+4109A>G (n.144+4109A>G) c.139+4109A>G c.118+4109A>G c.57A>G | |
| 7 | g.66633317A>T | CA367695522 | KCTD7 | c.187A>T (p.Thr63Ser) c.165A>T c.144+4109A>T (n.144+4109A>T) c.139+4109A>T c.118+4109A>T c.57A>T | |
| 7 | g.66633318C>A | CA367695523 | KCTD7 | c.188C>A (p.Thr63Asn) c.166C>A c.144+4110C>A (n.144+4110C>A) c.139+4110C>A c.118+4110C>A c.58C>A | |
| 7 | g.66633318C= | CA1714174462 | KCTD7 | c.188C= (p.Thr63=) c.166C= c.144+4110C= (n.144+4110C=) c.139+4110C= c.118+4110C= c.58C= | |
| 7 | g.66633318C>G | CA367695524 | KCTD7 | c.188C>G (p.Thr63Ser) c.166C>G c.144+4110C>G (n.144+4110C>G) c.139+4110C>G c.118+4110C>G c.58C>G | |
| 7 | g.66633318C>T | CA367695525 | KCTD7 | c.188C>T (p.Thr63Ile) c.166C>T c.144+4110C>T (n.144+4110C>T) c.139+4110C>T c.118+4110C>T c.58C>T | ClinVar dbSNP gnomAD v2 |
| 7 | g.66633319T>A | CA455937001 | KCTD7 | c.189T>A (p.Thr63=) c.167T>A c.144+4111T>A (n.144+4111T>A) c.139+4111T>A c.118+4111T>A c.59T>A | |
| 7 | g.66633319T>C | CA455937003 | KCTD7 | c.189T>C (p.Thr63=) c.167T>C c.144+4111T>C (n.144+4111T>C) c.139+4111T>C c.118+4111T>C c.59T>C | |
| 7 | g.66633319T>G | CA455937005 | KCTD7 | c.189T>G (p.Thr63=) c.167T>G c.144+4111T>G (n.144+4111T>G) c.139+4111T>G c.118+4111T>G c.59T>G | |
| 7 | g.66633320A= | CA1714174463 | KCTD7 | c.190A= (p.Thr64=) c.168A= c.144+4112A= (n.144+4112A=) c.139+4112A= c.118+4112A= c.60A= | |
| 7 | g.66633320A>C | CA367695526 | KCTD7 | c.190A>C (p.Thr64Pro) c.168A>C c.144+4112A>C (n.144+4112A>C) c.139+4112A>C c.118+4112A>C c.60A>C | |
| 7 | g.66633320A>G | CA241849 | KCTD7 | c.190A>G (p.Thr64Ala) c.168A>G c.144+4112A>G (n.144+4112A>G) c.139+4112A>G c.118+4112A>G c.60A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66633320A>T | CA367695527 | KCTD7 | c.190A>T (p.Thr64Ser) c.168A>T c.144+4112A>T (n.144+4112A>T) c.139+4112A>T c.118+4112A>T c.60A>T | |
| 7 | g.66633321C>A | CA367695528 | KCTD7 | c.191C>A (p.Thr64Lys) c.169C>A c.144+4113C>A (n.144+4113C>A) c.139+4113C>A c.118+4113C>A c.61C>A | |
| 7 | g.66633321C>G | CA367695529 | KCTD7 | c.191C>G (p.Thr64Arg) c.169C>G c.144+4113C>G (n.144+4113C>G) c.139+4113C>G c.118+4113C>G c.61C>G | |
| 7 | g.66633321C>T | CA367695530 | KCTD7 | c.191C>T (p.Thr64Ile) c.169C>T c.144+4113C>T (n.144+4113C>T) c.139+4113C>T c.118+4113C>T c.61C>T | |
| 7 | g.66633322A= | CA1714174464 | KCTD7 | c.192A= (p.Thr64=) c.170A= c.144+4114A= (n.144+4114A=) c.139+4114A= c.118+4114A= c.62A= | |
| 7 | g.66633322A>C | CA455937016 | KCTD7 | c.192A>C (p.Thr64=) c.170A>C c.144+4114A>C (n.144+4114A>C) c.139+4114A>C c.118+4114A>C c.62A>C | |
| 7 | g.66633322A>G | CA315677 | KCTD7 | c.192A>G (p.Thr64=) c.170A>G c.144+4114A>G (n.144+4114A>G) c.139+4114A>G c.118+4114A>G c.62A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66633322A>T | CA455937019 | KCTD7 | c.192A>T (p.Thr64=) c.170A>T c.144+4114A>T (n.144+4114A>T) c.139+4114A>T c.118+4114A>T c.62A>T | |
| 7 | g.66633323C>A | CA367695532 | KCTD7 | c.193C>A (p.Arg65Ser) c.171C>A c.144+4115C>A (n.144+4115C>A) c.139+4115C>A c.118+4115C>A c.63C>A | |
| 7 | g.66633323C= | CA1714174465 | KCTD7 | c.193C= (p.Arg65=) c.171C= c.144+4115C= (n.144+4115C=) c.139+4115C= c.118+4115C= c.63C= | |
| 7 | g.66633323C>G | CA367695531 | KCTD7 | c.193C>G (p.Arg65Gly) c.171C>G c.144+4115C>G (n.144+4115C>G) c.139+4115C>G c.118+4115C>G c.63C>G | |
| 7 | g.66633323C>T | CA315685 | KCTD7 | c.193C>T (p.Arg65Cys) c.171C>T c.144+4115C>T (n.144+4115C>T) c.139+4115C>T c.118+4115C>T c.63C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66633324G>A | CA367695533 | KCTD7 | c.194G>A (p.Arg65His) c.172G>A c.144+4116G>A (n.144+4116G>A) c.139+4116G>A c.118+4116G>A c.64G>A | dbSNP gnomAD v2 gnomAD v4 |