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 |
|---|---|---|---|---|---|
| 17 | g.49991821_49991822del | CA120091 | DLX3 | c.561_562del (p.Tyr188GlnfsTer13) c.201_202del (p.Tyr68GlnfsTer13) c.516+1580_516+1581del (n.516+1580_516+1581del) | ClinVar dbSNP |
| 17 | g.49991821A>C | CA400174687 | DLX3 | c.560T>G (p.Leu187Arg) c.200T>G (p.Leu67Arg) c.516+1579T>G (n.516+1579T>G) | gnomAD v4 |
| 17 | g.49991821A>G | CA400174689 | DLX3 | c.560T>C (p.Leu187Pro) c.200T>C (p.Leu67Pro) c.516+1579T>C (n.516+1579T>C) | |
| 17 | g.49991821A>T | CA400174691 | DLX3 | c.560T>A (p.Leu187His) c.200T>A (p.Leu67His) c.516+1579T>A (n.516+1579T>A) | |
| 17 | g.49991822G>A | CA400174702 | DLX3 | c.559C>T (p.Leu187Phe) c.199C>T (p.Leu67Phe) c.516+1578C>T (n.516+1578C>T) | |
| 17 | g.49991822G>C | CA400174699 | DLX3 | c.559C>G (p.Leu187Val) c.199C>G (p.Leu67Val) c.516+1578C>G (n.516+1578C>G) | |
| 17 | g.49991822G>T | CA400174695 | DLX3 | c.559C>A (p.Leu187Ile) c.199C>A (p.Leu67Ile) c.516+1578C>A (n.516+1578C>A) | |
| 17 | g.49991823T>A | CA400174706 | DLX3 | c.558A>T (p.Lys186Asn) c.198A>T (p.Lys66Asn) c.516+1577A>T (n.516+1577A>T) | |
| 17 | g.49991823T>C | CA291506425 | DLX3 | c.558A>G (p.Lys186=) c.198A>G (p.Lys66=) c.516+1577A>G (n.516+1577A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.49991823T>G | CA400174705 | DLX3 | c.558A>C (p.Lys186Asn) c.198A>C (p.Lys66Asn) c.516+1577A>C (n.516+1577A>C) | |
| 17 | g.49991823T= | CA2263822000 | DLX3 | c.558A= (p.Lys186=) c.198A= (p.Lys66=) c.516+1577A= (n.516+1577A=) | |
| 17 | g.49991824T>A | CA400174711 | DLX3 | c.557A>T (p.Lys186Ile) c.197A>T (p.Lys66Ile) c.516+1576A>T (n.516+1576A>T) | |
| 17 | g.49991824T>C | CA400174708 | DLX3 | c.557A>G (p.Lys186Arg) c.197A>G (p.Lys66Arg) c.516+1576A>G (n.516+1576A>G) | |
| 17 | g.49991824T>G | CA400174710 | DLX3 | c.557A>C (p.Lys186Thr) c.197A>C (p.Lys66Thr) c.516+1576A>C (n.516+1576A>C) | |
| 17 | g.49991825T>A | CA400174712 | DLX3 | c.556A>T (p.Lys186Ter) c.196A>T (p.Lys66Ter) c.516+1575A>T (n.516+1575A>T) | |
| 17 | g.49991825T>C | CA8640991 | DLX3 | c.556A>G (p.Lys186Glu) c.196A>G (p.Lys66Glu) c.516+1575A>G (n.516+1575A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.49991825T>G | CA400174713 | DLX3 | c.556A>C (p.Lys186Gln) c.196A>C (p.Lys66Gln) c.516+1575A>C (n.516+1575A>C) | |
| 17 | g.49991825T= | CA2263822001 | DLX3 | c.556A= (p.Lys186=) c.196A= (p.Lys66=) c.516+1575A= (n.516+1575A=) | |
| 17 | g.49991826C>A | CA400174714 | DLX3 | c.555G>T (p.Lys185Asn) c.195G>T (p.Lys65Asn) c.516+1574G>T (n.516+1574G>T) | COSMIC |
| 17 | g.49991826C>G | CA400174715 | DLX3 | c.555G>C (p.Lys185Asn) c.195G>C (p.Lys65Asn) c.516+1574G>C (n.516+1574G>C) | |
| 17 | g.49991826C>T | CA500989431 | DLX3 | c.555G>A (p.Lys185=) c.195G>A (p.Lys65=) c.516+1574G>A (n.516+1574G>A) | |
| 17 | g.49991827T>A | CA400174716 | DLX3 | c.554A>T (p.Lys185Met) c.194A>T (p.Lys65Met) c.516+1573A>T (n.516+1573A>T) | |
| 17 | g.49991827T>C | CA400174717 | DLX3 | c.554A>G (p.Lys185Arg) c.194A>G (p.Lys65Arg) c.516+1573A>G (n.516+1573A>G) | |
| 17 | g.49991827T>G | CA400174718 | DLX3 | c.554A>C (p.Lys185Thr) c.194A>C (p.Lys65Thr) c.516+1573A>C (n.516+1573A>C) | |
| 17 | g.49991828T>A | CA400174719 | DLX3 | c.553A>T (p.Lys185Ter) c.193A>T (p.Lys65Ter) c.516+1572A>T (n.516+1572A>T) | |
| 17 | g.49991828T>C | CA400174720 | DLX3 | c.553A>G (p.Lys185Glu) c.193A>G (p.Lys65Glu) c.516+1572A>G (n.516+1572A>G) | |
| 17 | g.49991828T>G | CA400174721 | DLX3 | c.553A>C (p.Lys185Gln) c.193A>C (p.Lys65Gln) c.516+1572A>C (n.516+1572A>C) | |
| 17 | g.49991829del | CA2638668316 | DLX3 | c.552del (p.Phe184LeufsTer?) c.192del (p.Phe64LeufsTer?) c.516+1571del (n.516+1571del) | gnomAD v4 |
| 17 | g.49991829G>A | CA500989433 | DLX3 | c.552C>T (p.Phe184=) c.192C>T (p.Phe64=) c.516+1571C>T (n.516+1571C>T) | |
| 17 | g.49991829G>C | CA400174723 | DLX3 | c.552C>G (p.Phe184Leu) c.192C>G (p.Phe64Leu) c.516+1571C>G (n.516+1571C>G) | |
| 17 | g.49991829G>T | CA400174722 | DLX3 | c.552C>A (p.Phe184Leu) c.192C>A (p.Phe64Leu) c.516+1571C>A (n.516+1571C>A) | |
| 17 | g.49991830A>C | CA400174724 | DLX3 | c.551T>G (p.Phe184Cys) c.191T>G (p.Phe64Cys) c.516+1570T>G (n.516+1570T>G) | |
| 17 | g.49991830A>G | CA400174725 | DLX3 | c.551T>C (p.Phe184Ser) c.191T>C (p.Phe64Ser) c.516+1570T>C (n.516+1570T>C) | |
| 17 | g.49991830A>T | CA400174726 | DLX3 | c.551T>A (p.Phe184Tyr) c.191T>A (p.Phe64Tyr) c.516+1570T>A (n.516+1570T>A) | |
| 17 | g.49991831A>C | CA400174727 | DLX3 | c.550T>G (p.Phe184Val) c.190T>G (p.Phe64Val) c.516+1569T>G (n.516+1569T>G) | |
| 17 | g.49991831A>G | CA400174728 | DLX3 | c.550T>C (p.Phe184Leu) c.190T>C (p.Phe64Leu) c.516+1569T>C (n.516+1569T>C) | |
| 17 | g.49991831A>T | CA400174729 | DLX3 | c.550T>A (p.Phe184Ile) c.190T>A (p.Phe64Ile) c.516+1569T>A (n.516+1569T>A) | |
| 17 | g.49991832C>A | CA400174730 | DLX3 | c.549G>T (p.Lys183Asn) c.189G>T (p.Lys63Asn) c.516+1568G>T (n.516+1568G>T) | |
| 17 | g.49991832C= | CA2263822002 | DLX3 | c.549G= (p.Lys183=) c.189G= (p.Lys63=) c.516+1568G= (n.516+1568G=) | |
| 17 | g.49991832C>G | CA400174731 | DLX3 | c.549G>C (p.Lys183Asn) c.189G>C (p.Lys63Asn) c.516+1568G>C (n.516+1568G>C) | |
| 17 | g.49991832C>T | CA8640992 | DLX3 | c.549G>A (p.Lys183=) c.189G>A (p.Lys63=) c.516+1568G>A (n.516+1568G>A) | dbSNP ExAC gnomAD v2 |
| 17 | g.49991833T>A | CA400174732 | DLX3 | c.548A>T (p.Lys183Met) c.188A>T (p.Lys63Met) c.516+1567A>T (n.516+1567A>T) | |
| 17 | g.49991833T>C | CA400174733 | DLX3 | c.548A>G (p.Lys183Arg) c.188A>G (p.Lys63Arg) c.516+1567A>G (n.516+1567A>G) | |
| 17 | g.49991833T>G | CA400174735 | DLX3 | c.548A>C (p.Lys183Thr) c.188A>C (p.Lys63Thr) c.516+1567A>C (n.516+1567A>C) | |
| 17 | g.49991834T>A | CA400174744 | DLX3 | c.547A>T (p.Lys183Ter) c.187A>T (p.Lys63Ter) c.516+1566A>T (n.516+1566A>T) | |
| 17 | g.49991834T>C | CA400174742 | DLX3 | c.547A>G (p.Lys183Glu) c.187A>G (p.Lys63Glu) c.516+1566A>G (n.516+1566A>G) | |
| 17 | g.49991834T>G | CA400174739 | DLX3 | c.547A>C (p.Lys183Gln) c.187A>C (p.Lys63Gln) c.516+1566A>C (n.516+1566A>C) | |
| 17 | g.49991835G>A | CA500989438 | DLX3 | c.546C>T (p.Ser182=) c.186C>T (p.Ser62=) c.516+1565C>T (n.516+1565C>T) | |
| 17 | g.49991835G>C | CA500989440 | DLX3 | c.546C>G (p.Ser182=) c.186C>G (p.Ser62=) c.516+1565C>G (n.516+1565C>G) | |
| 17 | g.49991835G>T | CA500989439 | DLX3 | c.546C>A (p.Ser182=) c.186C>A (p.Ser62=) c.516+1565C>A (n.516+1565C>A) |