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 |
|---|---|---|---|---|---|
| 11 | g.2169634_2169678dup | CA597431668 | TH | c.286_312+18dup c.110_*1+18dup c.122_*1+18dup c.367_393+18dup c.379_405+18dup c.298_324+18dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169656C>A | CA472018722 | TH | c.306G>T (p.Val102=) c.130G>T (p.Val44Phe) c.142G>T (p.Val48Phe) c.387G>T (p.Val129=) c.399G>T (p.Val133=) c.318G>T (p.Val106=) | |
| 11 | g.2169656C>G | CA472018723 | TH | c.306G>C (p.Val102=) c.130G>C (p.Val44Leu) c.142G>C (p.Val48Leu) c.387G>C (p.Val129=) c.399G>C (p.Val133=) c.318G>C (p.Val106=) | |
| 11 | g.2169656C>T | CA472018725 | TH | c.306G>A (p.Val102=) c.130G>A (p.Val44Ile) c.142G>A (p.Val48Ile) c.387G>A (p.Val129=) c.399G>A (p.Val133=) c.318G>A (p.Val106=) | gnomAD v4 |
| 11 | g.2169657A>C | CA379112132 | TH | c.305T>G (p.Val102Gly) c.129T>G (p.Gly43=) c.141T>G (p.Gly47=) c.386T>G (p.Val129Gly) c.398T>G (p.Val133Gly) c.317T>G (p.Val106Gly) | |
| 11 | g.2169657A>G | CA379112133 | TH | c.305T>C (p.Val102Ala) c.129T>C (p.Gly43=) c.141T>C (p.Gly47=) c.386T>C (p.Val129Ala) c.398T>C (p.Val133Ala) c.317T>C (p.Val106Ala) | |
| 11 | g.2169657A>T | CA379112134 | TH | c.305T>A (p.Val102Glu) c.129T>A (p.Gly43=) c.141T>A (p.Gly47=) c.386T>A (p.Val129Glu) c.398T>A (p.Val133Glu) c.317T>A (p.Val106Glu) | |
| 11 | g.2169658C>A | CA5818730 | TH | c.304G>T (p.Val102Leu) c.128G>T (p.Gly43Val) c.140G>T (p.Gly47Val) c.385G>T (p.Val129Leu) c.397G>T (p.Val133Leu) c.316G>T (p.Val106Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169658C= | CA1948009442 | TH | c.304G= (p.Val102=) c.128G= (p.Gly43=) c.140G= (p.Gly47=) c.385G= (p.Val129=) c.397G= (p.Val133=) c.316G= (p.Val106=) | |
| 11 | g.2169658C>G | CA379112135 | TH | c.304G>C (p.Val102Leu) c.128G>C (p.Gly43Ala) c.140G>C (p.Gly47Ala) c.385G>C (p.Val129Leu) c.397G>C (p.Val133Leu) c.316G>C (p.Val106Leu) | |
| 11 | g.2169658C>T | CA379112136 | TH | c.304G>A (p.Val102Met) c.128G>A (p.Gly43Asp) c.140G>A (p.Gly47Asp) c.385G>A (p.Val129Met) c.397G>A (p.Val133Met) c.316G>A (p.Val106Met) | |
| 11 | g.2169659C>A | CA379112137 | TH | c.303G>T (p.Lys101Asn) c.127G>T (p.Gly43Cys) c.139G>T (p.Gly47Cys) c.384G>T (p.Lys128Asn) c.396G>T (p.Lys132Asn) c.315G>T (p.Lys105Asn) | |
| 11 | g.2169659C= | CA1948009444 | TH | c.303G= (p.Lys101=) c.127G= (p.Gly43=) c.139G= (p.Gly47=) c.384G= (p.Lys128=) c.396G= (p.Lys132=) c.315G= (p.Lys105=) | |
| 11 | g.2169659C>G | CA379112138 | TH | c.303G>C (p.Lys101Asn) c.127G>C (p.Gly43Arg) c.139G>C (p.Gly47Arg) c.384G>C (p.Lys128Asn) c.396G>C (p.Lys132Asn) c.315G>C (p.Lys105Asn) | |
| 11 | g.2169659C>T | CA5818731 | TH | c.303G>A (p.Lys101=) c.127G>A (p.Gly43Ser) c.139G>A (p.Gly47Ser) c.384G>A (p.Lys128=) c.396G>A (p.Lys132=) c.315G>A (p.Lys105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169660T>A | CA379112140 | TH | c.302A>T (p.Lys101Met) c.126A>T (p.Glu42Asp) c.138A>T (p.Glu46Asp) c.383A>T (p.Lys128Met) c.395A>T (p.Lys132Met) c.314A>T (p.Lys105Met) | |
| 11 | g.2169660T>C | CA379112141 | TH | c.302A>G (p.Lys101Arg) c.126A>G (p.Glu42=) c.138A>G (p.Glu46=) c.383A>G (p.Lys128Arg) c.395A>G (p.Lys132Arg) c.314A>G (p.Lys105Arg) | ClinVar dbSNP gnomAD v2 |
| 11 | g.2169660T>G | CA379112139 | TH | c.302A>C (p.Lys101Thr) c.126A>C (p.Glu42Asp) c.138A>C (p.Glu46Asp) c.383A>C (p.Lys128Thr) c.395A>C (p.Lys132Thr) c.314A>C (p.Lys105Thr) | gnomAD v4 |
| 11 | g.2169660T= | CA1948009447 | TH | c.302A= (p.Lys101=) c.126A= (p.Glu42=) c.138A= (p.Glu46=) c.383A= (p.Lys128=) c.395A= (p.Lys132=) c.314A= (p.Lys105=) | |
| 11 | g.2169661T>A | CA379112144 | TH | c.301A>T (p.Lys101Ter) c.125A>T (p.Glu42Val) c.137A>T (p.Glu46Val) c.382A>T (p.Lys128Ter) c.394A>T (p.Lys132Ter) c.313A>T (p.Lys105Ter) | |
| 11 | g.2169661T>C | CA379112142 | TH | c.301A>G (p.Lys101Glu) c.125A>G (p.Glu42Gly) c.137A>G (p.Glu46Gly) c.382A>G (p.Lys128Glu) c.394A>G (p.Lys132Glu) c.313A>G (p.Lys105Glu) | |
| 11 | g.2169661T>G | CA379112143 | TH | c.301A>C (p.Lys101Gln) c.125A>C (p.Glu42Ala) c.137A>C (p.Glu46Ala) c.382A>C (p.Lys128Gln) c.394A>C (p.Lys132Gln) c.313A>C (p.Lys105Gln) | |
| 11 | g.2169662C>A | CA472018731 | TH | c.300G>T (p.Val100=) c.124G>T (p.Glu42Ter) c.136G>T (p.Glu46Ter) c.381G>T (p.Val127=) c.393G>T (p.Val131=) c.312G>T (p.Val104=) | |
| 11 | g.2169662C>G | CA472018732 | TH | c.300G>C (p.Val100=) c.124G>C (p.Glu42Gln) c.136G>C (p.Glu46Gln) c.381G>C (p.Val127=) c.393G>C (p.Val131=) c.312G>C (p.Val104=) | |
| 11 | g.2169662C>T | CA472018733 | TH | c.300G>A (p.Val100=) c.124G>A (p.Glu42Lys) c.136G>A (p.Glu46Lys) c.381G>A (p.Val127=) c.393G>A (p.Val131=) c.312G>A (p.Val104=) | |
| 11 | g.2169663A>C | CA379112145 | TH | c.299T>G (p.Val100Gly) c.123T>G (p.Cys41Trp) c.135T>G (p.Cys45Trp) c.380T>G (p.Val127Gly) c.392T>G (p.Val131Gly) c.311T>G (p.Val104Gly) | |
| 11 | g.2169663A>G | CA379112146 | TH | c.299T>C (p.Val100Ala) c.123T>C (p.Cys41=) c.135T>C (p.Cys45=) c.380T>C (p.Val127Ala) c.392T>C (p.Val131Ala) c.311T>C (p.Val104Ala) | |
| 11 | g.2169663A>T | CA379112147 | TH | c.299T>A (p.Val100Glu) c.123T>A (p.Cys41Ter) c.135T>A (p.Cys45Ter) c.380T>A (p.Val127Glu) c.392T>A (p.Val131Glu) c.311T>A (p.Val104Glu) | |
| 11 | g.2169664C>A | CA379112150 | TH | c.298G>T (p.Val100Leu) c.122G>T (p.Cys41Phe) c.134G>T (p.Cys45Phe) c.379G>T (p.Val127Leu) c.391G>T (p.Val131Leu) c.310G>T (p.Val104Leu) | |
| 11 | g.2169664C= | CA1948009449 | TH | c.298G= (p.Val100=) c.122G= (p.Cys41=) c.134G= (p.Cys45=) c.379G= (p.Val127=) c.391G= (p.Val131=) c.310G= (p.Val104=) | |
| 11 | g.2169664C>G | CA379112149 | TH | c.298G>C (p.Val100Leu) c.122G>C (p.Cys41Ser) c.134G>C (p.Cys45Ser) c.379G>C (p.Val127Leu) c.391G>C (p.Val131Leu) c.310G>C (p.Val104Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2169664C>T | CA379112148 | TH | c.298G>A (p.Val100Met) c.122G>A (p.Cys41Tyr) c.134G>A (p.Cys45Tyr) c.379G>A (p.Val127Met) c.391G>A (p.Val131Met) c.310G>A (p.Val104Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169665A= | CA1948009451 | TH | c.297T= (p.Ala99=) c.121T= (p.Cys41=) c.133T= (p.Cys45=) c.378T= (p.Ala126=) c.390T= (p.Ala130=) c.309T= (p.Ala103=) | |
| 11 | g.2169665A>C | CA472018735 | TH | c.297T>G (p.Ala99=) c.121T>G (p.Cys41Gly) c.133T>G (p.Cys45Gly) c.378T>G (p.Ala126=) c.390T>G (p.Ala130=) c.309T>G (p.Ala103=) | |
| 11 | g.2169665A>G | CA216227540 | TH | c.297T>C (p.Ala99=) c.121T>C (p.Cys41Arg) c.133T>C (p.Cys45Arg) c.378T>C (p.Ala126=) c.390T>C (p.Ala130=) c.309T>C (p.Ala103=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169665A>T | CA472018734 | TH | c.297T>A (p.Ala99=) c.121T>A (p.Cys41Ser) c.133T>A (p.Cys45Ser) c.378T>A (p.Ala126=) c.390T>A (p.Ala130=) c.309T>A (p.Ala103=) | |
| 11 | g.2169665dup | CA912971947 | TH | c.297dup (p.Val100CysfsTer5) c.121dup (p.Cys41LeufsTer2) c.133dup (p.Cys45LeufsTer2) c.378dup (p.Val127CysfsTer5) c.390dup (p.Val131CysfsTer5) c.309dup (p.Val104CysfsTer5) | |
| 11 | g.2169666G>A | CA379112151 | TH | c.296C>T (p.Ala99Val) c.120C>T (p.Ser40=) c.132C>T (p.Ser44=) c.377C>T (p.Ala126Val) c.389C>T (p.Ala130Val) c.308C>T (p.Ala103Val) | |
| 11 | g.2169666G>C | CA379112152 | TH | c.296C>G (p.Ala99Gly) c.120C>G (p.Ser40Arg) c.132C>G (p.Ser44Arg) c.377C>G (p.Ala126Gly) c.389C>G (p.Ala130Gly) c.308C>G (p.Ala103Gly) | gnomAD v4 |
| 11 | g.2169666G= | CA1948009455 | TH | c.296C= (p.Ala99=) c.120C= (p.Ser40=) c.132C= (p.Ser44=) c.377C= (p.Ala126=) c.389C= (p.Ala130=) c.308C= (p.Ala103=) | |
| 11 | g.2169666G>T | CA379112153 | TH | c.296C>A (p.Ala99Asp) c.120C>A (p.Ser40Arg) c.132C>A (p.Ser44Arg) c.377C>A (p.Ala126Asp) c.389C>A (p.Ala130Asp) c.308C>A (p.Ala103Asp) | dbSNP gnomAD v4 |
| 11 | g.2169669_2169687dup | CA658821339 | TH | c.278_296dup (p.Val100LeufsTer11) c.102_120dup (p.Cys41ProfsTer8) c.114_132dup (p.Cys45ProfsTer8) c.359_377dup (p.Val127LeufsTer11) c.371_389dup (p.Val131LeufsTer11) c.290_308dup (p.Val104LeufsTer11) | ClinVar dbSNP |
| 11 | g.2169667C>A | CA379112154 | TH | c.295G>T (p.Ala99Ser) c.119G>T (p.Ser40Ile) c.131G>T (p.Ser44Ile) c.376G>T (p.Ala126Ser) c.388G>T (p.Ala130Ser) c.307G>T (p.Ala103Ser) | |
| 11 | g.2169667C= | CA1948009459 | TH | c.295G= (p.Ala99=) c.119G= (p.Ser40=) c.131G= (p.Ser44=) c.376G= (p.Ala126=) c.388G= (p.Ala130=) c.307G= (p.Ala103=) | |
| 11 | g.2169667C>G | CA379112155 | TH | c.295G>C (p.Ala99Pro) c.119G>C (p.Ser40Thr) c.131G>C (p.Ser44Thr) c.376G>C (p.Ala126Pro) c.388G>C (p.Ala130Pro) c.307G>C (p.Ala103Pro) | dbSNP |
| 11 | g.2169667C>T | CA379112156 | TH | c.295G>A (p.Ala99Thr) c.119G>A (p.Ser40Asn) c.131G>A (p.Ser44Asn) c.376G>A (p.Ala126Thr) c.388G>A (p.Ala130Thr) c.307G>A (p.Ala103Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2169667_2169669dup | CA915948014 | TH | c.293_295dup (p.Arg98_Ala99insGly) c.117_119dup (p.Pro39_Ser40insArg) c.129_131dup (p.Pro43_Ser44insArg) c.374_376dup (p.Arg125_Ala126insGly) c.386_388dup (p.Arg129_Ala130insGly) c.305_307dup (p.Arg102_Ala103insGly) | ClinVar dbSNP |
| 11 | g.2169668T>A | CA472018737 | TH | c.294A>T (p.Arg98=) c.118A>T (p.Ser40Cys) c.130A>T (p.Ser44Cys) c.375A>T (p.Arg125=) c.387A>T (p.Arg129=) c.306A>T (p.Arg102=) | |
| 11 | g.2169668T>C | CA472018738 | TH | c.294A>G (p.Arg98=) c.118A>G (p.Ser40Gly) c.130A>G (p.Ser44Gly) c.375A>G (p.Arg125=) c.387A>G (p.Arg129=) c.306A>G (p.Arg102=) | |
| 11 | g.2169668T>G | CA472018739 | TH | c.294A>C (p.Arg98=) c.118A>C (p.Ser40Arg) c.130A>C (p.Ser44Arg) c.375A>C (p.Arg125=) c.387A>C (p.Arg129=) c.306A>C (p.Arg102=) |