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 |
|---|---|---|---|---|---|
| 22 | g.19962679_19962821del | CA1024175389 | COMT | c.153_289+6del c.3_139+6del n.1_137+6del n.349_491del c.267_403+6del c.564_700+6del | gnomAD v3 gnomAD v4 |
| 22 | g.19962755G>A | CA410688862 | COMT | c.229G>A (p.Glu77Lys) c.79G>A (p.Glu27Lys) n.77G>A n.425G>A c.343G>A (p.Glu115Lys) c.640G>A (p.Glu214Lys) | dbSNP gnomAD v4 |
| 22 | g.19962755G>C | CA410688864 | COMT | c.229G>C (p.Glu77Gln) c.79G>C (p.Glu27Gln) n.77G>C n.425G>C c.343G>C (p.Glu115Gln) c.640G>C (p.Glu214Gln) | |
| 22 | g.19962755G= | CA2396125276 | COMT | c.229G= (p.Glu77=) c.79G= (p.Glu27=) n.77G= n.425G= c.343G= (p.Glu115=) c.640G= (p.Glu214=) | |
| 22 | g.19962755G>T | CA410688866 | COMT | c.229G>T (p.Glu77Ter) c.79G>T (p.Glu27Ter) n.77G>T n.425G>T c.343G>T (p.Glu115Ter) c.640G>T (p.Glu214Ter) | |
| 22 | g.19962756A= | CA2396125277 | COMT | c.230A= (p.Glu77=) c.80A= (p.Glu27=) n.78A= n.426A= c.344A= (p.Glu115=) c.641A= (p.Glu214=) | |
| 22 | g.19962756A>C | CA410688869 | COMT | c.230A>C (p.Glu77Ala) c.80A>C (p.Glu27Ala) n.78A>C n.426A>C c.344A>C (p.Glu115Ala) c.641A>C (p.Glu214Ala) | |
| 22 | g.19962756A>G | CA410688870 | COMT | c.230A>G (p.Glu77Gly) c.80A>G (p.Glu27Gly) n.78A>G n.426A>G c.344A>G (p.Glu115Gly) c.641A>G (p.Glu214Gly) | dbSNP gnomAD v4 |
| 22 | g.19962756A>T | CA410688872 | COMT | c.230A>T (p.Glu77Val) c.80A>T (p.Glu27Val) n.78A>T n.426A>T c.344A>T (p.Glu115Val) c.641A>T (p.Glu214Val) | |
| 22 | g.19962757G>A | CA513688152 | COMT | c.231G>A (p.Glu77=) c.81G>A (p.Glu27=) n.79G>A n.427G>A c.345G>A (p.Glu115=) c.642G>A (p.Glu214=) | ClinVar dbSNP |
| 22 | g.19962757G>C | CA410688873 | COMT | c.231G>C (p.Glu77Asp) c.81G>C (p.Glu27Asp) n.79G>C n.427G>C c.345G>C (p.Glu115Asp) c.642G>C (p.Glu214Asp) | |
| 22 | g.19962757G= | CA2396125278 | COMT | c.231G= (p.Glu77=) c.81G= (p.Glu27=) n.79G= n.427G= c.345G= (p.Glu115=) c.642G= (p.Glu214=) | |
| 22 | g.19962757G>T | CA410688875 | COMT | c.231G>T (p.Glu77Asp) c.81G>T (p.Glu27Asp) n.79G>T n.427G>T c.345G>T (p.Glu115Asp) c.642G>T (p.Glu214Asp) | |
| 22 | g.19962758G>A | CA410688879 | COMT | c.232G>A (p.Ala78Thr) c.82G>A (p.Ala28Thr) n.80G>A n.428G>A c.346G>A (p.Ala116Thr) c.643G>A (p.Ala215Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962758G>C | CA410688880 | COMT | c.232G>C (p.Ala78Pro) c.82G>C (p.Ala28Pro) n.80G>C n.428G>C c.346G>C (p.Ala116Pro) c.643G>C (p.Ala215Pro) | |
| 22 | g.19962758G= | CA2396125279 | COMT | c.232G= (p.Ala78=) c.82G= (p.Ala28=) n.80G= n.428G= c.346G= (p.Ala116=) c.643G= (p.Ala215=) | |
| 22 | g.19962758G>T | CA410688877 | COMT | c.232G>T (p.Ala78Ser) c.82G>T (p.Ala28Ser) n.80G>T n.428G>T c.346G>T (p.Ala116Ser) c.643G>T (p.Ala215Ser) | |
| 22 | g.19962759C>A | CA410688882 | COMT | c.233C>A (p.Ala78Asp) c.83C>A (p.Ala28Asp) n.81C>A n.429C>A c.347C>A (p.Ala116Asp) c.644C>A (p.Ala215Asp) | |
| 22 | g.19962759C>G | CA410688886 | COMT | c.233C>G (p.Ala78Gly) c.83C>G (p.Ala28Gly) n.81C>G n.429C>G c.347C>G (p.Ala116Gly) c.644C>G (p.Ala215Gly) | |
| 22 | g.19962759C>T | CA410688884 | COMT | c.233C>T (p.Ala78Val) c.83C>T (p.Ala28Val) n.81C>T n.429C>T c.347C>T (p.Ala116Val) c.644C>T (p.Ala215Val) | gnomAD v4 |
| 22 | g.19962760C>A | CA513688164 | COMT | c.234C>A (p.Ala78=) c.84C>A (p.Ala28=) n.82C>A n.430C>A c.348C>A (p.Ala116=) c.645C>A (p.Ala215=) | |
| 22 | g.19962760C>G | CA513688163 | COMT | c.234C>G (p.Ala78=) c.84C>G (p.Ala28=) n.82C>G n.430C>G c.348C>G (p.Ala116=) c.645C>G (p.Ala215=) | |
| 22 | g.19962760C>T | CA513688162 | COMT | c.234C>T (p.Ala78=) c.84C>T (p.Ala28=) n.82C>T n.430C>T c.348C>T (p.Ala116=) c.645C>T (p.Ala215=) | |
| 22 | g.19962761A= | CA2396125280 | COMT | c.235A= (p.Ile79=) c.85A= (p.Ile29=) n.83A= n.431A= c.349A= (p.Ile117=) c.646A= (p.Ile216=) | |
| 22 | g.19962761A>C | CA410688888 | COMT | c.235A>C (p.Ile79Leu) c.85A>C (p.Ile29Leu) n.83A>C n.431A>C c.349A>C (p.Ile117Leu) c.646A>C (p.Ile216Leu) | |
| 22 | g.19962761A>G | CA10104491 | COMT | c.235A>G (p.Ile79Val) c.85A>G (p.Ile29Val) n.83A>G n.431A>G c.349A>G (p.Ile117Val) c.646A>G (p.Ile216Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962761A>T | CA410688890 | COMT | c.235A>T (p.Ile79Phe) c.85A>T (p.Ile29Phe) n.83A>T n.431A>T c.349A>T (p.Ile117Phe) c.646A>T (p.Ile216Phe) | |
| 22 | g.19962762T>A | CA410688892 | COMT | c.236T>A (p.Ile79Asn) c.86T>A (p.Ile29Asn) n.84T>A n.432T>A c.350T>A (p.Ile117Asn) c.647T>A (p.Ile216Asn) | |
| 22 | g.19962762T>C | CA10104492 | COMT | c.236T>C (p.Ile79Thr) c.86T>C (p.Ile29Thr) n.84T>C n.432T>C c.350T>C (p.Ile117Thr) c.647T>C (p.Ile216Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962762T>G | CA410688895 | COMT | c.236T>G (p.Ile79Ser) c.86T>G (p.Ile29Ser) n.84T>G n.432T>G c.350T>G (p.Ile117Ser) c.647T>G (p.Ile216Ser) | |
| 22 | g.19962762T= | CA2396125281 | COMT | c.236T= (p.Ile79=) c.86T= (p.Ile29=) n.84T= n.432T= c.350T= (p.Ile117=) c.647T= (p.Ile216=) | |
| 22 | g.19962763T>A | CA513688175 | COMT | c.237T>A (p.Ile79=) c.87T>A (p.Ile29=) n.85T>A n.433T>A c.351T>A (p.Ile117=) c.648T>A (p.Ile216=) | |
| 22 | g.19962763T>C | CA513688174 | COMT | c.237T>C (p.Ile79=) c.87T>C (p.Ile29=) n.85T>C n.433T>C c.351T>C (p.Ile117=) c.648T>C (p.Ile216=) | dbSNP |
| 22 | g.19962763T>G | CA410688897 | COMT | c.237T>G (p.Ile79Met) c.87T>G (p.Ile29Met) n.85T>G n.433T>G c.351T>G (p.Ile117Met) c.648T>G (p.Ile216Met) | |
| 22 | g.19962764G>A | CA410688898 | COMT | c.238G>A (p.Asp80Asn) c.88G>A (p.Asp30Asn) n.86G>A n.434G>A c.352G>A (p.Asp118Asn) c.649G>A (p.Asp217Asn) | |
| 22 | g.19962764G>C | CA410688900 | COMT | c.238G>C (p.Asp80His) c.88G>C (p.Asp30His) n.86G>C n.434G>C c.352G>C (p.Asp118His) c.649G>C (p.Asp217His) | |
| 22 | g.19962764G>T | CA410688902 | COMT | c.238G>T (p.Asp80Tyr) c.88G>T (p.Asp30Tyr) n.86G>T n.434G>T c.352G>T (p.Asp118Tyr) c.649G>T (p.Asp217Tyr) | |
| 22 | g.19962765A>C | CA410688904 | COMT | c.239A>C (p.Asp80Ala) c.89A>C (p.Asp30Ala) n.87A>C n.435A>C c.353A>C (p.Asp118Ala) c.650A>C (p.Asp217Ala) | |
| 22 | g.19962765A>G | CA410688906 | COMT | c.239A>G (p.Asp80Gly) c.89A>G (p.Asp30Gly) n.87A>G n.435A>G c.353A>G (p.Asp118Gly) c.650A>G (p.Asp217Gly) | |
| 22 | g.19962765A>T | CA410688908 | COMT | c.239A>T (p.Asp80Val) c.89A>T (p.Asp30Val) n.87A>T n.435A>T c.353A>T (p.Asp118Val) c.650A>T (p.Asp217Val) | |
| 22 | g.19962766C>A | CA410688910 | COMT | c.240C>A (p.Asp80Glu) c.90C>A (p.Asp30Glu) n.88C>A n.436C>A c.354C>A (p.Asp118Glu) c.651C>A (p.Asp217Glu) | |
| 22 | g.19962766C>G | CA410688912 | COMT | c.240C>G (p.Asp80Glu) c.90C>G (p.Asp30Glu) n.88C>G n.436C>G c.354C>G (p.Asp118Glu) c.651C>G (p.Asp217Glu) | |
| 22 | g.19962766C>T | CA513688181 | COMT | c.240C>T (p.Asp80=) c.90C>T (p.Asp30=) n.88C>T n.436C>T c.354C>T (p.Asp118=) c.651C>T (p.Asp217=) | |
| 22 | g.19962767A= | CA2396125282 | COMT | c.241A= (p.Thr81=) c.91A= (p.Thr31=) n.89A= n.437A= c.355A= (p.Thr119=) c.652A= (p.Thr218=) | |
| 22 | g.19962767A>C | CA410688915 | COMT | c.241A>C (p.Thr81Pro) c.91A>C (p.Thr31Pro) n.89A>C n.437A>C c.355A>C (p.Thr119Pro) c.652A>C (p.Thr218Pro) | |
| 22 | g.19962767A>G | CA410688916 | COMT | c.241A>G (p.Thr81Ala) c.91A>G (p.Thr31Ala) n.89A>G n.437A>G c.355A>G (p.Thr119Ala) c.652A>G (p.Thr218Ala) | gnomAD v4 |
| 22 | g.19962767A>T | CA410688918 | COMT | c.241A>T (p.Thr81Ser) c.91A>T (p.Thr31Ser) n.89A>T n.437A>T c.355A>T (p.Thr119Ser) c.652A>T (p.Thr218Ser) | dbSNP |
| 22 | g.19962768C>A | CA410688920 | COMT | c.242C>A (p.Thr81Asn) c.92C>A (p.Thr31Asn) n.90C>A n.438C>A c.356C>A (p.Thr119Asn) c.653C>A (p.Thr218Asn) | |
| 22 | g.19962768C>G | CA410688922 | COMT | c.242C>G (p.Thr81Ser) c.92C>G (p.Thr31Ser) n.90C>G n.438C>G c.356C>G (p.Thr119Ser) c.653C>G (p.Thr218Ser) | |
| 22 | g.19962768C>T | CA410688924 | COMT | c.242C>T (p.Thr81Ile) c.92C>T (p.Thr31Ile) n.90C>T n.438C>T c.356C>T (p.Thr119Ile) c.653C>T (p.Thr218Ile) |