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 |
|---|---|---|---|---|---|
| 3 | g.122119418C>A | CA2569353 | CD86 | c.894-20C>A (n.894-20C>A) c.732-20C>A (n.732-20C>A) c.876-20C>A (n.876-20C>A) c.648-20C>A (n.648-20C>A) c.736-20C>A c.558-20C>A (n.558-20C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122119418C= | CA1397810615 | CD86 | c.894-20C= (n.894-20C=) c.732-20C= (n.732-20C=) c.876-20C= (n.876-20C=) c.648-20C= (n.648-20C=) c.736-20C= c.558-20C= (n.558-20C=) | |
| 3 | g.122119418C>T | CA2569354 | CD86 | c.894-20C>T (n.894-20C>T) c.732-20C>T (n.732-20C>T) c.876-20C>T (n.876-20C>T) c.648-20C>T (n.648-20C>T) c.736-20C>T c.558-20C>T (n.558-20C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122119420_122119423delinsTTTC | CA1397810617 | CD86 | c.894-18_894-15delinsTTTC (n.894-18_894-15delinsTTTC) c.732-18_732-15delinsTTTC (n.732-18_732-15delinsTTTC) c.876-18_876-15delinsTTTC (n.876-18_876-15delinsTTTC) c.648-18_648-15delinsTTTC (n.648-18_648-15delinsTTTC) c.736-18_736-15delinsTTTC c.558-18_558-15delinsTTTC (n.558-18_558-15delinsTTTC) | |
| 3 | g.122119421T>C | CA2569355 | CD86 | c.894-17T>C (n.894-17T>C) c.732-17T>C (n.732-17T>C) c.876-17T>C (n.876-17T>C) c.648-17T>C (n.648-17T>C) c.736-17T>C c.558-17T>C (n.558-17T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122119421T= | CA1397810620 | CD86 | c.894-17T= (n.894-17T=) c.732-17T= (n.732-17T=) c.876-17T= (n.876-17T=) c.648-17T= (n.648-17T=) c.736-17T= c.558-17T= (n.558-17T=) | |
| 3 | g.122119425_122119427del | CA545648292 | CD86 | c.894-13_894-11del (n.894-13_894-11del) c.732-13_732-11del (n.732-13_732-11del) c.876-13_876-11del (n.876-13_876-11del) c.648-13_648-11del (n.648-13_648-11del) c.736-13_736-11del c.558-13_558-11del (n.558-13_558-11del) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122119422T>C | CA2758175879 | CD86 | c.894-16T>C (n.894-16T>C) c.732-16T>C (n.732-16T>C) c.876-16T>C (n.876-16T>C) c.648-16T>C (n.648-16T>C) c.736-16T>C c.558-16T>C (n.558-16T>C) | |
| 3 | g.122119423del | CA2667228375 | CD86 | c.894-15del (n.894-15del) c.732-15del (n.732-15del) c.876-15del (n.876-15del) c.648-15del (n.648-15del) c.736-15del c.558-15del (n.558-15del) | gnomAD v4 |
| 3 | g.122119423C>A | CA2667228376 | CD86 | c.894-15C>A (n.894-15C>A) c.732-15C>A (n.732-15C>A) c.876-15C>A (n.876-15C>A) c.648-15C>A (n.648-15C>A) c.736-15C>A c.558-15C>A (n.558-15C>A) | gnomAD v4 |
| 3 | g.122119424T>A | CA2667228377 | CD86 | c.894-14T>A (n.894-14T>A) c.732-14T>A (n.732-14T>A) c.876-14T>A (n.876-14T>A) c.648-14T>A (n.648-14T>A) c.736-14T>A c.558-14T>A (n.558-14T>A) | gnomAD v4 |
| 3 | g.122119424T>C | CA2667228378 | CD86 | c.894-14T>C (n.894-14T>C) c.732-14T>C (n.732-14T>C) c.876-14T>C (n.876-14T>C) c.648-14T>C (n.648-14T>C) c.736-14T>C c.558-14T>C (n.558-14T>C) | gnomAD v4 |
| 3 | g.122119425T>C | CA2667228379 | CD86 | c.894-13T>C (n.894-13T>C) c.732-13T>C (n.732-13T>C) c.876-13T>C (n.876-13T>C) c.648-13T>C (n.648-13T>C) c.736-13T>C c.558-13T>C (n.558-13T>C) | gnomAD v4 |
| 3 | g.122119426C>A | CA2667228380 | CD86 | c.894-12C>A (n.894-12C>A) c.732-12C>A (n.732-12C>A) c.876-12C>A (n.876-12C>A) c.648-12C>A (n.648-12C>A) c.736-12C>A c.558-12C>A (n.558-12C>A) | gnomAD v4 |
| 3 | g.122119427T>C | CA2667228381 | CD86 | c.894-11T>C (n.894-11T>C) c.732-11T>C (n.732-11T>C) c.876-11T>C (n.876-11T>C) c.648-11T>C (n.648-11T>C) c.736-11T>C c.558-11T>C (n.558-11T>C) | gnomAD v4 |
| 3 | g.122119429T>C | CA2667228382 | CD86 | c.894-9T>C (n.894-9T>C) c.732-9T>C (n.732-9T>C) c.876-9T>C (n.876-9T>C) c.648-9T>C (n.648-9T>C) c.736-9T>C c.558-9T>C (n.558-9T>C) | gnomAD v4 |
| 3 | g.122119431T>C | CA2667228383 | CD86 | c.894-7T>C (n.894-7T>C) c.732-7T>C (n.732-7T>C) c.876-7T>C (n.876-7T>C) c.648-7T>C (n.648-7T>C) c.736-7T>C c.558-7T>C (n.558-7T>C) | gnomAD v4 |
| 3 | g.122119432C>A | CA2577869926 | CD86 | c.894-6C>A (n.894-6C>A) c.732-6C>A (n.732-6C>A) c.876-6C>A (n.876-6C>A) c.648-6C>A (n.648-6C>A) c.736-6C>A c.558-6C>A (n.558-6C>A) | gnomAD v4 |
| 3 | g.122119432C>T | CA645534987 | CD86 | c.894-6C>T (n.894-6C>T) c.732-6C>T (n.732-6C>T) c.876-6C>T (n.876-6C>T) c.648-6C>T (n.648-6C>T) c.736-6C>T c.558-6C>T (n.558-6C>T) | gnomAD v4 COSMIC |
| 3 | g.122119433T>A | CA2667228384 | CD86 | c.894-5T>A (n.894-5T>A) c.732-5T>A (n.732-5T>A) c.876-5T>A (n.876-5T>A) c.648-5T>A (n.648-5T>A) c.736-5T>A c.558-5T>A (n.558-5T>A) | gnomAD v4 |
| 3 | g.122119433T>C | CA898115961 | CD86 | c.894-5T>C (n.894-5T>C) c.732-5T>C (n.732-5T>C) c.876-5T>C (n.876-5T>C) c.648-5T>C (n.648-5T>C) c.736-5T>C c.558-5T>C (n.558-5T>C) | dbSNP gnomAD v4 |
| 3 | g.122119433T= | CA1397810623 | CD86 | c.894-5T= (n.894-5T=) c.732-5T= (n.732-5T=) c.876-5T= (n.876-5T=) c.648-5T= (n.648-5T=) c.736-5T= c.558-5T= (n.558-5T=) | |
| 3 | g.122119434C>A | CA2667228385 | CD86 | c.894-4C>A (n.894-4C>A) c.732-4C>A (n.732-4C>A) c.876-4C>A (n.876-4C>A) c.648-4C>A (n.648-4C>A) c.736-4C>A c.558-4C>A (n.558-4C>A) | gnomAD v4 |
| 3 | g.122119435C>A | CA2667228386 | CD86 | c.894-3C>A (n.894-3C>A) c.732-3C>A (n.732-3C>A) c.876-3C>A (n.876-3C>A) c.648-3C>A (n.648-3C>A) c.736-3C>A c.558-3C>A (n.558-3C>A) | gnomAD v4 |
| 3 | g.122119435C>T | CA2667228387 | CD86 | c.894-3C>T (n.894-3C>T) c.732-3C>T (n.732-3C>T) c.876-3C>T (n.876-3C>T) c.648-3C>T (n.648-3C>T) c.736-3C>T c.558-3C>T (n.558-3C>T) | gnomAD v4 |
| 3 | g.122119436A>C | CA354163763 | CD86 | c.894-2A>C (n.894-2A>C) c.732-2A>C (n.732-2A>C) c.876-2A>C (n.876-2A>C) c.648-2A>C (n.648-2A>C) c.736-2A>C c.558-2A>C (n.558-2A>C) | |
| 3 | g.122119436A>G | CA354163764 | CD86 | c.894-2A>G (n.894-2A>G) c.732-2A>G (n.732-2A>G) c.876-2A>G (n.876-2A>G) c.648-2A>G (n.648-2A>G) c.736-2A>G c.558-2A>G (n.558-2A>G) | gnomAD v4 |
| 3 | g.122119436A>T | CA354163765 | CD86 | c.894-2A>T (n.894-2A>T) c.732-2A>T (n.732-2A>T) c.876-2A>T (n.876-2A>T) c.648-2A>T (n.648-2A>T) c.736-2A>T c.558-2A>T (n.558-2A>T) | |
| 3 | g.122119437G>A | CA354163766 | CD86 | c.894-1G>A (n.894-1G>A) c.732-1G>A (n.732-1G>A) c.876-1G>A (n.876-1G>A) c.648-1G>A (n.648-1G>A) c.736-1G>A c.558-1G>A (n.558-1G>A) | dbSNP gnomAD v2 |
| 3 | g.122119437G>C | CA354163768 | CD86 | c.894-1G>C (n.894-1G>C) c.732-1G>C (n.732-1G>C) c.876-1G>C (n.876-1G>C) c.648-1G>C (n.648-1G>C) c.736-1G>C c.558-1G>C (n.558-1G>C) | |
| 3 | g.122119437G= | CA1397810625 | CD86 | c.894-1G= (n.894-1G=) c.732-1G= (n.732-1G=) c.876-1G= (n.876-1G=) c.648-1G= (n.648-1G=) c.736-1G= c.558-1G= (n.558-1G=) | |
| 3 | g.122119437G>T | CA354163767 | CD86 | c.894-1G>T (n.894-1G>T) c.732-1G>T (n.732-1G>T) c.876-1G>T (n.876-1G>T) c.648-1G>T (n.648-1G>T) c.736-1G>T c.558-1G>T (n.558-1G>T) | |
| 3 | g.122119438A>C | CA354163769 | CD86 | c.894A>C (p.Arg298Ser) c.732A>C (p.Arg244Ser) c.876A>C (p.Arg292Ser) c.648A>C (p.Arg216Ser) c.736A>C c.558A>C (p.Arg186Ser) | |
| 3 | g.122119438A>G | CA435252251 | CD86 | c.894A>G (p.Arg298=) c.732A>G (p.Arg244=) c.876A>G (p.Arg292=) c.648A>G (p.Arg216=) c.736A>G c.558A>G (p.Arg186=) | |
| 3 | g.122119438A>T | CA354163770 | CD86 | c.894A>T (p.Arg298Ser) c.732A>T (p.Arg244Ser) c.876A>T (p.Arg292Ser) c.648A>T (p.Arg216Ser) c.736A>T c.558A>T (p.Arg186Ser) | |
| 3 | g.122119439G>A | CA354163771 | CD86 | c.895G>A (p.Glu299Lys) c.733G>A (p.Glu245Lys) c.877G>A (p.Glu293Lys) c.649G>A (p.Glu217Lys) c.737G>A c.559G>A (p.Glu187Lys) | |
| 3 | g.122119439G>C | CA354163772 | CD86 | c.895G>C (p.Glu299Gln) c.733G>C (p.Glu245Gln) c.877G>C (p.Glu293Gln) c.649G>C (p.Glu217Gln) c.737G>C c.559G>C (p.Glu187Gln) | |
| 3 | g.122119439G= | CA1397810629 | CD86 | c.895G= (p.Glu299=) c.733G= (p.Glu245=) c.877G= (p.Glu293=) c.649G= (p.Glu217=) c.737G= c.559G= (p.Glu187=) | |
| 3 | g.122119439G>T | CA354163773 | CD86 | c.895G>T (p.Glu299Ter) c.733G>T (p.Glu245Ter) c.877G>T (p.Glu293Ter) c.649G>T (p.Glu217Ter) c.737G>T c.559G>T (p.Glu187Ter) | |
| 3 | g.122119440A>C | CA354163774 | CD86 | c.896A>C (p.Glu299Ala) c.734A>C (p.Glu245Ala) c.878A>C (p.Glu293Ala) c.650A>C (p.Glu217Ala) c.738A>C c.560A>C (p.Glu187Ala) | |
| 3 | g.122119440A>G | CA354163775 | CD86 | c.896A>G (p.Glu299Gly) c.734A>G (p.Glu245Gly) c.878A>G (p.Glu293Gly) c.650A>G (p.Glu217Gly) c.738A>G c.560A>G (p.Glu187Gly) | |
| 3 | g.122119440A>T | CA354163776 | CD86 | c.896A>T (p.Glu299Val) c.734A>T (p.Glu245Val) c.878A>T (p.Glu293Val) c.650A>T (p.Glu217Val) c.738A>T c.560A>T (p.Glu187Val) | |
| 3 | g.122119445dup | CA1052927351 | CD86 | c.901dup (p.Ile301AsnfsTer5) c.739dup (p.Ile247AsnfsTer5) c.883dup (p.Ile295AsnfsTer5) c.655dup (p.Ile219AsnfsTer5) c.743dup c.565dup (p.Ile189AsnfsTer5) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122119445del | CA2667228388 | CD86 | c.901del (p.Ile301SerfsTer?) c.739del (p.Ile247SerfsTer?) c.883del (p.Ile295SerfsTer?) c.655del (p.Ile219SerfsTer?) c.743del c.565del (p.Ile189SerfsTer?) | gnomAD v4 |
| 3 | g.122119441A>C | CA354163777 | CD86 | c.897A>C (p.Glu299Asp) c.735A>C (p.Glu245Asp) c.879A>C (p.Glu293Asp) c.651A>C (p.Glu217Asp) c.739A>C c.561A>C (p.Glu187Asp) | |
| 3 | g.122119441A>G | CA435252252 | CD86 | c.897A>G (p.Glu299=) c.735A>G (p.Glu245=) c.879A>G (p.Glu293=) c.651A>G (p.Glu217=) c.739A>G c.561A>G (p.Glu187=) | |
| 3 | g.122119441A>T | CA354163778 | CD86 | c.897A>T (p.Glu299Asp) c.735A>T (p.Glu245Asp) c.879A>T (p.Glu293Asp) c.651A>T (p.Glu217Asp) c.739A>T c.561A>T (p.Glu187Asp) | gnomAD v4 |
| 3 | g.122119442A= | CA1397810634 | CD86 | c.898A= (p.Lys300=) c.736A= (p.Lys246=) c.880A= (p.Lys294=) c.652A= (p.Lys218=) c.740A= c.562A= (p.Lys188=) | |
| 3 | g.122119442A>C | CA354163780 | CD86 | c.898A>C (p.Lys300Gln) c.736A>C (p.Lys246Gln) c.880A>C (p.Lys294Gln) c.652A>C (p.Lys218Gln) c.740A>C c.562A>C (p.Lys188Gln) | |
| 3 | g.122119442A>G | CA354163781 | CD86 | c.898A>G (p.Lys300Glu) c.736A>G (p.Lys246Glu) c.880A>G (p.Lys294Glu) c.652A>G (p.Lys218Glu) c.740A>G c.562A>G (p.Lys188Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |