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 |
|---|---|---|---|---|---|
| 1 | g.244054716_244054718delinsCAG | CA1230659821 | ZBTB18 | c.*119_*121delinsCAG (n.*119_*121delinsCAG) c.915_917delinsCAG (p.Asn305=) c.*872_*874delinsCAG (n.*872_*874delinsCAG) c.942_944delinsCAG (p.Asn314=) | |
| 1 | g.244054717A= | CA1230659822 | ZBTB18 | c.*120A= (n.*120A=) c.916A= (p.Arg306=) c.*873A= (n.*873A=) c.943A= (p.Arg315=) | |
| 1 | g.244054717A>C | CA424411162 | ZBTB18 | c.*120A>C (n.*120A>C) c.916A>C (p.Arg306=) c.*873A>C (n.*873A>C) c.943A>C (p.Arg315=) | |
| 1 | g.244054717A>G | CA1484367 | ZBTB18 | c.*120A>G (n.*120A>G) c.916A>G (p.Arg306Gly) c.*873A>G (n.*873A>G) c.943A>G (p.Arg315Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054717A>T | CA345674033 | ZBTB18 | c.*120A>T (n.*120A>T) c.916A>T (p.Arg306Trp) c.*873A>T (n.*873A>T) c.943A>T (p.Arg315Trp) | |
| 1 | g.244054717_244054718del | CA645293936 | ZBTB18 | c.*120_*121del (n.*120_*121del) c.916_917del (p.Arg306GlyfsTer4) c.*873_*874del (n.*873_*874del) c.943_944del (p.Arg315GlyfsTer4) | ClinVar dbSNP |
| 1 | g.244054718G>A | CA345674035 | ZBTB18 | c.*121G>A (n.*121G>A) c.917G>A (p.Arg306Lys) c.*874G>A (n.*874G>A) c.944G>A (p.Arg315Lys) | |
| 1 | g.244054718G>C | CA345674036 | ZBTB18 | c.*121G>C (n.*121G>C) c.917G>C (p.Arg306Thr) c.*874G>C (n.*874G>C) c.944G>C (p.Arg315Thr) | |
| 1 | g.244054718G= | CA1230659823 | ZBTB18 | c.*121G= (n.*121G=) c.917G= (p.Arg306=) c.*874G= (n.*874G=) c.944G= (p.Arg315=) | |
| 1 | g.244054718G>T | CA345674034 | ZBTB18 | c.*121G>T (n.*121G>T) c.917G>T (p.Arg306Met) c.*874G>T (n.*874G>T) c.944G>T (p.Arg315Met) | dbSNP |
| 1 | g.244054719G>A | CA424411163 | ZBTB18 | c.*122G>A (n.*122G>A) c.918G>A (p.Arg306=) c.*875G>A (n.*875G>A) c.945G>A (p.Arg315=) | |
| 1 | g.244054719G>C | CA345674038 | ZBTB18 | c.*122G>C (n.*122G>C) c.918G>C (p.Arg306Ser) c.*875G>C (n.*875G>C) c.945G>C (p.Arg315Ser) | |
| 1 | g.244054719G>T | CA345674037 | ZBTB18 | c.*122G>T (n.*122G>T) c.918G>T (p.Arg306Ser) c.*875G>T (n.*875G>T) c.945G>T (p.Arg315Ser) | |
| 1 | g.244054720G>A | CA41081527 | ZBTB18 | c.*123G>A (n.*123G>A) c.919G>A (p.Val307Ile) c.*876G>A (n.*876G>A) c.946G>A (p.Val316Ile) | dbSNP gnomAD v4 |
| 1 | g.244054720G>C | CA345674039 | ZBTB18 | c.*123G>C (n.*123G>C) c.919G>C (p.Val307Leu) c.*876G>C (n.*876G>C) c.946G>C (p.Val316Leu) | |
| 1 | g.244054720G= | CA1230659824 | ZBTB18 | c.*123G= (n.*123G=) c.919G= (p.Val307=) c.*876G= (n.*876G=) c.946G= (p.Val316=) | |
| 1 | g.244054720G>T | CA345674040 | ZBTB18 | c.*123G>T (n.*123G>T) c.919G>T (p.Val307Leu) c.*876G>T (n.*876G>T) c.946G>T (p.Val316Leu) | dbSNP |
| 1 | g.244054721T>A | CA345674041 | ZBTB18 | c.*124T>A (n.*124T>A) c.920T>A (p.Val307Glu) c.*877T>A (n.*877T>A) c.947T>A (p.Val316Glu) | dbSNP |
| 1 | g.244054721T>C | CA345674042 | ZBTB18 | c.*124T>C (n.*124T>C) c.920T>C (p.Val307Ala) c.*877T>C (n.*877T>C) c.947T>C (p.Val316Ala) | |
| 1 | g.244054721T>G | CA345674043 | ZBTB18 | c.*124T>G (n.*124T>G) c.920T>G (p.Val307Gly) c.*877T>G (n.*877T>G) c.947T>G (p.Val316Gly) | |
| 1 | g.244054721T= | CA1230659825 | ZBTB18 | c.*124T= (n.*124T=) c.920T= (p.Val307=) c.*877T= (n.*877T=) c.947T= (p.Val316=) | |
| 1 | g.244054722A>C | CA424411164 | ZBTB18 | c.*125A>C (n.*125A>C) c.921A>C (p.Val307=) c.*878A>C (n.*878A>C) c.948A>C (p.Val316=) | |
| 1 | g.244054722A>G | CA424411165 | ZBTB18 | c.*125A>G (n.*125A>G) c.921A>G (p.Val307=) c.*878A>G (n.*878A>G) c.948A>G (p.Val316=) | COSMIC COSMIC |
| 1 | g.244054722A>T | CA424411166 | ZBTB18 | c.*125A>T (n.*125A>T) c.921A>T (p.Val307=) c.*878A>T (n.*878A>T) c.948A>T (p.Val316=) | |
| 1 | g.244054723C>A | CA345674044 | ZBTB18 | c.*126C>A (n.*126C>A) c.922C>A (p.Gln308Lys) c.*879C>A (n.*879C>A) c.949C>A (p.Gln317Lys) | |
| 1 | g.244054723C>G | CA345674045 | ZBTB18 | c.*126C>G (n.*126C>G) c.922C>G (p.Gln308Glu) c.*879C>G (n.*879C>G) c.949C>G (p.Gln317Glu) | |
| 1 | g.244054723C>T | CA345674046 | ZBTB18 | c.*126C>T (n.*126C>T) c.922C>T (p.Gln308Ter) c.*879C>T (n.*879C>T) c.949C>T (p.Gln317Ter) | |
| 1 | g.244054724A>C | CA345674047 | ZBTB18 | c.*127A>C (n.*127A>C) c.923A>C (p.Gln308Pro) c.*880A>C (n.*880A>C) c.950A>C (p.Gln317Pro) | |
| 1 | g.244054724A>G | CA345674048 | ZBTB18 | c.*127A>G (n.*127A>G) c.923A>G (p.Gln308Arg) c.*880A>G (n.*880A>G) c.950A>G (p.Gln317Arg) | |
| 1 | g.244054724A>T | CA345674049 | ZBTB18 | c.*127A>T (n.*127A>T) c.923A>T (p.Gln308Leu) c.*880A>T (n.*880A>T) c.950A>T (p.Gln317Leu) | |
| 1 | g.244054725G>A | CA424411167 | ZBTB18 | c.*128G>A (n.*128G>A) c.924G>A (p.Gln308=) c.*881G>A (n.*881G>A) c.951G>A (p.Gln317=) | |
| 1 | g.244054725G>C | CA345674051 | ZBTB18 | c.*128G>C (n.*128G>C) c.924G>C (p.Gln308His) c.*881G>C (n.*881G>C) c.951G>C (p.Gln317His) | |
| 1 | g.244054725G>T | CA345674050 | ZBTB18 | c.*128G>T (n.*128G>T) c.924G>T (p.Gln308His) c.*881G>T (n.*881G>T) c.951G>T (p.Gln317His) | |
| 1 | g.244054726T>A | CA345674052 | ZBTB18 | c.*129T>A (n.*129T>A) c.925T>A (p.Tyr309Asn) c.*882T>A (n.*882T>A) c.952T>A (p.Tyr318Asn) | gnomAD v4 |
| 1 | g.244054726T>C | CA345674053 | ZBTB18 | c.*129T>C (n.*129T>C) c.925T>C (p.Tyr309His) c.*882T>C (n.*882T>C) c.952T>C (p.Tyr318His) | |
| 1 | g.244054726T>G | CA345674054 | ZBTB18 | c.*129T>G (n.*129T>G) c.925T>G (p.Tyr309Asp) c.*882T>G (n.*882T>G) c.952T>G (p.Tyr318Asp) | |
| 1 | g.244054727A>C | CA345674055 | ZBTB18 | c.*130A>C (n.*130A>C) c.926A>C (p.Tyr309Ser) c.*883A>C (n.*883A>C) c.953A>C (p.Tyr318Ser) | |
| 1 | g.244054727A>G | CA345674056 | ZBTB18 | c.*130A>G (n.*130A>G) c.926A>G (p.Tyr309Cys) c.*883A>G (n.*883A>G) c.953A>G (p.Tyr318Cys) | gnomAD v4 |
| 1 | g.244054727A>T | CA345674057 | ZBTB18 | c.*130A>T (n.*130A>T) c.926A>T (p.Tyr309Phe) c.*883A>T (n.*883A>T) c.953A>T (p.Tyr318Phe) | |
| 1 | g.244054728T>A | CA345674058 | ZBTB18 | c.*131T>A (n.*131T>A) c.927T>A (p.Tyr309Ter) c.*884T>A (n.*884T>A) c.954T>A (p.Tyr318Ter) | |
| 1 | g.244054728T>C | CA424411168 | ZBTB18 | c.*131T>C (n.*131T>C) c.927T>C (p.Tyr309=) c.*884T>C (n.*884T>C) c.954T>C (p.Tyr318=) | |
| 1 | g.244054728T>G | CA345674059 | ZBTB18 | c.*131T>G (n.*131T>G) c.927T>G (p.Tyr309Ter) c.*884T>G (n.*884T>G) c.954T>G (p.Tyr318Ter) | |
| 1 | g.244054729G>A | CA345674060 | ZBTB18 | c.*132G>A (n.*132G>A) c.928G>A (p.Glu310Lys) c.*885G>A (n.*885G>A) c.955G>A (p.Glu319Lys) | |
| 1 | g.244054729G>C | CA345674061 | ZBTB18 | c.*132G>C (n.*132G>C) c.928G>C (p.Glu310Gln) c.*885G>C (n.*885G>C) c.955G>C (p.Glu319Gln) | |
| 1 | g.244054729G>T | CA345674062 | ZBTB18 | c.*132G>T (n.*132G>T) c.928G>T (p.Glu310Ter) c.*885G>T (n.*885G>T) c.955G>T (p.Glu319Ter) | |
| 1 | g.244054730A>C | CA345674063 | ZBTB18 | c.*133A>C (n.*133A>C) c.929A>C (p.Glu310Ala) c.*886A>C (n.*886A>C) c.956A>C (p.Glu319Ala) | |
| 1 | g.244054730A>G | CA345674064 | ZBTB18 | c.*133A>G (n.*133A>G) c.929A>G (p.Glu310Gly) c.*886A>G (n.*886A>G) c.956A>G (p.Glu319Gly) | |
| 1 | g.244054730A>T | CA345674065 | ZBTB18 | c.*133A>T (n.*133A>T) c.929A>T (p.Glu310Val) c.*886A>T (n.*886A>T) c.956A>T (p.Glu319Val) | |
| 1 | g.244054731G>A | CA424411169 | ZBTB18 | c.*134G>A (n.*134G>A) c.930G>A (p.Glu310=) c.*887G>A (n.*887G>A) c.957G>A (p.Glu319=) | gnomAD v4 |
| 1 | g.244054731G>C | CA345674066 | ZBTB18 | c.*134G>C (n.*134G>C) c.930G>C (p.Glu310Asp) c.*887G>C (n.*887G>C) c.957G>C (p.Glu319Asp) | dbSNP |