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.19962654_19962665del | CA2655332826 | COMT | c.128_139del (p.Leu43_Ile46del) c.-23_-12del (n.-23_-12del) n.324_335del c.242_253del (p.Leu81_Ile84del) c.539_550del (p.Leu180_Ile183del) | gnomAD v4 |
| 22 | g.19962652C>A | CA513688428 | COMT | c.126C>A (p.Ile42=) c.-25C>A (n.-25C>A) n.322C>A c.240C>A (p.Ile80=) c.537C>A (p.Ile179=) | |
| 22 | g.19962652C>G | CA410688612 | COMT | c.126C>G (p.Ile42Met) c.-25C>G (n.-25C>G) n.322C>G c.240C>G (p.Ile80Met) c.537C>G (p.Ile179Met) | |
| 22 | g.19962652C>T | CA513688427 | COMT | c.126C>T (p.Ile42=) c.-25C>T (n.-25C>T) n.322C>T c.240C>T (p.Ile80=) c.537C>T (p.Ile179=) | |
| 22 | g.19962653C>A | CA410688613 | COMT | c.127C>A (p.Leu43Met) c.-24C>A (n.-24C>A) n.323C>A c.241C>A (p.Leu81Met) c.538C>A (p.Leu180Met) | |
| 22 | g.19962653C>G | CA410688614 | COMT | c.127C>G (p.Leu43Val) c.-24C>G (n.-24C>G) n.323C>G c.241C>G (p.Leu81Val) c.538C>G (p.Leu180Val) | |
| 22 | g.19962653C>T | CA513688431 | COMT | c.127C>T (p.Leu43=) c.-24C>T (n.-24C>T) n.323C>T c.241C>T (p.Leu81=) c.538C>T (p.Leu180=) | |
| 22 | g.19962654T>A | CA410688615 | COMT | c.128T>A (p.Leu43Gln) c.-23T>A (n.-23T>A) n.324T>A c.242T>A (p.Leu81Gln) c.539T>A (p.Leu180Gln) | |
| 22 | g.19962654T>C | CA410688616 | COMT | c.128T>C (p.Leu43Pro) c.-23T>C (n.-23T>C) n.324T>C c.242T>C (p.Leu81Pro) c.539T>C (p.Leu180Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962654T>G | CA410688617 | COMT | c.128T>G (p.Leu43Arg) c.-23T>G (n.-23T>G) n.324T>G c.242T>G (p.Leu81Arg) c.539T>G (p.Leu180Arg) | |
| 22 | g.19962654T= | CA2396125229 | COMT | c.128T= (p.Leu43=) c.-23T= (n.-23T=) n.324T= c.242T= (p.Leu81=) c.539T= (p.Leu180=) | |
| 22 | g.19962655G>A | CA513688438 | COMT | c.129G>A (p.Leu43=) c.-22G>A (n.-22G>A) n.325G>A c.243G>A (p.Leu81=) c.540G>A (p.Leu180=) | |
| 22 | g.19962655G>C | CA513688437 | COMT | c.129G>C (p.Leu43=) c.-22G>C (n.-22G>C) n.325G>C c.243G>C (p.Leu81=) c.540G>C (p.Leu180=) | |
| 22 | g.19962655G>T | CA513688435 | COMT | c.129G>T (p.Leu43=) c.-22G>T (n.-22G>T) n.325G>T c.243G>T (p.Leu81=) c.540G>T (p.Leu180=) | |
| 22 | g.19962656C>A | CA410688618 | COMT | c.130C>A (p.Gln44Lys) c.-21C>A (n.-21C>A) n.326C>A c.244C>A (p.Gln82Lys) c.541C>A (p.Gln181Lys) | gnomAD v4 |
| 22 | g.19962656C>G | CA410688619 | COMT | c.130C>G (p.Gln44Glu) c.-21C>G (n.-21C>G) n.326C>G c.244C>G (p.Gln82Glu) c.541C>G (p.Gln181Glu) | |
| 22 | g.19962656C>T | CA410688620 | COMT | c.130C>T (p.Gln44Ter) c.-21C>T (n.-21C>T) n.326C>T c.244C>T (p.Gln82Ter) c.541C>T (p.Gln181Ter) | |
| 22 | g.19962657A>C | CA410688623 | COMT | c.131A>C (p.Gln44Pro) c.-20A>C (n.-20A>C) n.327A>C c.245A>C (p.Gln82Pro) c.542A>C (p.Gln181Pro) | |
| 22 | g.19962657A>G | CA410688621 | COMT | c.131A>G (p.Gln44Arg) c.-20A>G (n.-20A>G) n.327A>G c.245A>G (p.Gln82Arg) c.542A>G (p.Gln181Arg) | |
| 22 | g.19962657A>T | CA410688622 | COMT | c.131A>T (p.Gln44Leu) c.-20A>T (n.-20A>T) n.327A>T c.245A>T (p.Gln82Leu) c.542A>T (p.Gln181Leu) | |
| 22 | g.19962658G>A | CA513688445 | COMT | c.132G>A (p.Gln44=) c.-19G>A (n.-19G>A) n.328G>A c.246G>A (p.Gln82=) c.543G>A (p.Gln181=) | |
| 22 | g.19962658G>C | CA410688624 | COMT | c.132G>C (p.Gln44His) c.-19G>C (n.-19G>C) n.328G>C c.246G>C (p.Gln82His) c.543G>C (p.Gln181His) | |
| 22 | g.19962658G>T | CA410688625 | COMT | c.132G>T (p.Gln44His) c.-19G>T (n.-19G>T) n.328G>T c.246G>T (p.Gln82His) c.543G>T (p.Gln181His) | gnomAD v4 |
| 22 | g.19962659C>A | CA410688626 | COMT | c.133C>A (p.Pro45Thr) c.-18C>A (n.-18C>A) n.329C>A c.247C>A (p.Pro83Thr) c.544C>A (p.Pro182Thr) | |
| 22 | g.19962659C>G | CA410688627 | COMT | c.133C>G (p.Pro45Ala) c.-18C>G (n.-18C>G) n.329C>G c.247C>G (p.Pro83Ala) c.544C>G (p.Pro182Ala) | |
| 22 | g.19962659C>T | CA410688628 | COMT | c.133C>T (p.Pro45Ser) c.-18C>T (n.-18C>T) n.329C>T c.247C>T (p.Pro83Ser) c.544C>T (p.Pro182Ser) | |
| 22 | g.19962660C>A | CA410688629 | COMT | c.134C>A (p.Pro45His) c.-17C>A (n.-17C>A) n.330C>A c.248C>A (p.Pro83His) c.545C>A (p.Pro182His) | |
| 22 | g.19962660C>G | CA410688630 | COMT | c.134C>G (p.Pro45Arg) c.-17C>G (n.-17C>G) n.330C>G c.248C>G (p.Pro83Arg) c.545C>G (p.Pro182Arg) | |
| 22 | g.19962660C>T | CA410688631 | COMT | c.134C>T (p.Pro45Leu) c.-17C>T (n.-17C>T) n.330C>T c.248C>T (p.Pro83Leu) c.545C>T (p.Pro182Leu) | |
| 22 | g.19962661C>A | CA513688450 | COMT | c.135C>A (p.Pro45=) c.-16C>A (n.-16C>A) n.331C>A c.249C>A (p.Pro83=) c.546C>A (p.Pro182=) | |
| 22 | g.19962661C>G | CA513688449 | COMT | c.135C>G (p.Pro45=) c.-16C>G (n.-16C>G) n.331C>G c.249C>G (p.Pro83=) c.546C>G (p.Pro182=) | |
| 22 | g.19962661C>T | CA513688448 | COMT | c.135C>T (p.Pro45=) c.-16C>T (n.-16C>T) n.331C>T c.249C>T (p.Pro83=) c.546C>T (p.Pro182=) | gnomAD v4 |
| 22 | g.19962662A>C | CA410688632 | COMT | c.136A>C (p.Ile46Leu) c.-15A>C (n.-15A>C) n.332A>C c.250A>C (p.Ile84Leu) c.547A>C (p.Ile183Leu) | |
| 22 | g.19962662A>G | CA410688633 | COMT | c.136A>G (p.Ile46Val) c.-15A>G (n.-15A>G) n.332A>G c.250A>G (p.Ile84Val) c.547A>G (p.Ile183Val) | gnomAD v4 |
| 22 | g.19962662A>T | CA410688634 | COMT | c.136A>T (p.Ile46Phe) c.-15A>T (n.-15A>T) n.332A>T c.250A>T (p.Ile84Phe) c.547A>T (p.Ile183Phe) | |
| 22 | g.19962663T>A | CA10104471 | COMT | c.137T>A (p.Ile46Asn) c.-14T>A (n.-14T>A) n.333T>A c.251T>A (p.Ile84Asn) c.548T>A (p.Ile183Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19962663T>C | CA410688636 | COMT | c.137T>C (p.Ile46Thr) c.-14T>C (n.-14T>C) n.333T>C c.251T>C (p.Ile84Thr) c.548T>C (p.Ile183Thr) | |
| 22 | g.19962663T>G | CA410688635 | COMT | c.137T>G (p.Ile46Ser) c.-14T>G (n.-14T>G) n.333T>G c.251T>G (p.Ile84Ser) c.548T>G (p.Ile183Ser) | dbSNP gnomAD v4 |
| 22 | g.19962663T= | CA2396125230 | COMT | c.137T= (p.Ile46=) c.-14T= (n.-14T=) n.333T= c.251T= (p.Ile84=) c.548T= (p.Ile183=) | |
| 22 | g.19962664C>A | CA513688457 | COMT | c.138C>A (p.Ile46=) c.-13C>A (n.-13C>A) n.334C>A c.252C>A (p.Ile84=) c.549C>A (p.Ile183=) | |
| 22 | g.19962664C= | CA2396125231 | COMT | c.138C= (p.Ile46=) c.-13C= (n.-13C=) n.334C= c.252C= (p.Ile84=) c.549C= (p.Ile183=) | |
| 22 | g.19962664C>G | CA410688637 | COMT | c.138C>G (p.Ile46Met) c.-13C>G (n.-13C>G) n.334C>G c.252C>G (p.Ile84Met) c.549C>G (p.Ile183Met) | |
| 22 | g.19962664C>T | CA513688456 | COMT | c.138C>T (p.Ile46=) c.-13C>T (n.-13C>T) n.334C>T c.252C>T (p.Ile84=) c.549C>T (p.Ile183=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962665C>A | CA410688638 | COMT | c.139C>A (p.His47Asn) c.-12C>A (n.-12C>A) n.335C>A c.253C>A (p.His85Asn) c.550C>A (p.His184Asn) | |
| 22 | g.19962665C>G | CA410688639 | COMT | c.139C>G (p.His47Asp) c.-12C>G (n.-12C>G) n.335C>G c.253C>G (p.His85Asp) c.550C>G (p.His184Asp) | |
| 22 | g.19962665C>T | CA410688640 | COMT | c.139C>T (p.His47Tyr) c.-12C>T (n.-12C>T) n.335C>T c.253C>T (p.His85Tyr) c.550C>T (p.His184Tyr) | |
| 22 | g.19962666A>C | CA410688641 | COMT | c.140A>C (p.His47Pro) c.-11A>C (n.-11A>C) n.336A>C c.254A>C (p.His85Pro) c.551A>C (p.His184Pro) | gnomAD v4 |
| 22 | g.19962666A>G | CA410688642 | COMT | c.140A>G (p.His47Arg) c.-11A>G (n.-11A>G) n.336A>G c.254A>G (p.His85Arg) c.551A>G (p.His184Arg) | |
| 22 | g.19962666A>T | CA410688643 | COMT | c.140A>T (p.His47Leu) c.-11A>T (n.-11A>T) n.336A>T c.254A>T (p.His85Leu) c.551A>T (p.His184Leu) | |
| 22 | g.19962667C>A | CA410688644 | COMT | c.141C>A (p.His47Gln) c.-10C>A (n.-10C>A) n.337C>A c.255C>A (p.His85Gln) c.552C>A (p.His184Gln) | gnomAD v4 |