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 |
|---|---|---|---|---|---|
| 8 | g.132963034_132963044delinsAAAAGACACAG | CA1821029263 | TG | c.5508_5518delinsAAAAGACACAG (p.Arg1836=) c.41_51delinsAAAAGACACAG c.874_884delinsAAAAGACACAG c.2163_2173delinsAAAAGACACAG c.5316_5326delinsAAAAGACACAG (p.Arg1772=) c.5442_5452delinsAAAAGACACAG (p.Arg1814=) c.5337_5347delinsAAAAGACACAG (p.Arg1779=) c.5289_5299delinsAAAAGACACAG (p.Arg1763=) c.5247_5257delinsAAAAGACACAG (p.Arg1749=) | |
| 8 | g.132963035_132963044del | CA658797152 | TG | c.5509_5518del (p.Lys1837CysfsTer12) c.42_51del c.875_884del c.2164_2173del c.5317_5326del (p.Lys1773CysfsTer12) c.5443_5452del (p.Lys1815CysfsTer12) c.5338_5347del (p.Lys1780CysfsTer12) c.5290_5299del (p.Lys1764CysfsTer12) c.5248_5257del (p.Lys1750CysfsTer12) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132963038del | CA2688652479 | TG | c.5512del (p.Asp1838ThrfsTer14) c.45del c.878del c.2167del c.5320del (p.Asp1774ThrfsTer14) c.5446del (p.Asp1816ThrfsTer14) c.5341del (p.Asp1781ThrfsTer14) c.5293del (p.Asp1765ThrfsTer14) c.5251del (p.Asp1751ThrfsTer14) | gnomAD v4 |
| 8 | g.132963038G>A | CA4884537 | TG | c.5512G>A (p.Asp1838Asn) c.45G>A c.878G>A c.2167G>A c.5320G>A (p.Asp1774Asn) c.5446G>A (p.Asp1816Asn) c.5341G>A (p.Asp1781Asn) c.5293G>A (p.Asp1765Asn) c.5251G>A (p.Asp1751Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963038G>C | CA372231405 | TG | c.5512G>C (p.Asp1838His) c.45G>C c.878G>C c.2167G>C c.5320G>C (p.Asp1774His) c.5446G>C (p.Asp1816His) c.5341G>C (p.Asp1781His) c.5293G>C (p.Asp1765His) c.5251G>C (p.Asp1751His) | |
| 8 | g.132963038G= | CA1821029264 | TG | c.5512G= (p.Asp1838=) c.45G= c.878G= c.2167G= c.5320G= (p.Asp1774=) c.5446G= (p.Asp1816=) c.5341G= (p.Asp1781=) c.5293G= (p.Asp1765=) c.5251G= (p.Asp1751=) | |
| 8 | g.132963038G>T | CA372231403 | TG | c.5512G>T (p.Asp1838Tyr) c.45G>T c.878G>T c.2167G>T c.5320G>T (p.Asp1774Tyr) c.5446G>T (p.Asp1816Tyr) c.5341G>T (p.Asp1781Tyr) c.5293G>T (p.Asp1765Tyr) c.5251G>T (p.Asp1751Tyr) | |
| 8 | g.132963039A= | CA1821029265 | TG | c.5513A= (p.Asp1838=) c.46A= c.879A= c.2168A= c.5321A= (p.Asp1774=) c.5447A= (p.Asp1816=) c.5342A= (p.Asp1781=) c.5294A= (p.Asp1765=) c.5252A= (p.Asp1751=) | |
| 8 | g.132963039A>C | CA372231408 | TG | c.5513A>C (p.Asp1838Ala) c.46A>C c.879A>C c.2168A>C c.5321A>C (p.Asp1774Ala) c.5447A>C (p.Asp1816Ala) c.5342A>C (p.Asp1781Ala) c.5294A>C (p.Asp1765Ala) c.5252A>C (p.Asp1751Ala) | gnomAD v4 |
| 8 | g.132963039A>G | CA4884538 | TG | c.5513A>G (p.Asp1838Gly) c.46A>G c.879A>G c.2168A>G c.5321A>G (p.Asp1774Gly) c.5447A>G (p.Asp1816Gly) c.5342A>G (p.Asp1781Gly) c.5294A>G (p.Asp1765Gly) c.5252A>G (p.Asp1751Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963039A>T | CA372231413 | TG | c.5513A>T (p.Asp1838Val) c.46A>T c.879A>T c.2168A>T c.5321A>T (p.Asp1774Val) c.5447A>T (p.Asp1816Val) c.5342A>T (p.Asp1781Val) c.5294A>T (p.Asp1765Val) c.5252A>T (p.Asp1751Val) | |
| 8 | g.132963040del | CA2688652480 | TG | c.5514del (p.Asp1838GlufsTer14) c.47del c.880del c.2169del c.5322del (p.Asp1774GlufsTer14) c.5448del (p.Asp1816GlufsTer14) c.5343del (p.Asp1781GlufsTer14) c.5295del (p.Asp1765GlufsTer14) c.5253del (p.Asp1751GlufsTer14) | gnomAD v4 |
| 8 | g.132963040C>A | CA372231425 | TG | c.5514C>A (p.Asp1838Glu) c.47C>A c.880C>A c.2169C>A c.5322C>A (p.Asp1774Glu) c.5448C>A (p.Asp1816Glu) c.5343C>A (p.Asp1781Glu) c.5295C>A (p.Asp1765Glu) c.5253C>A (p.Asp1751Glu) | |
| 8 | g.132963040C>G | CA372231428 | TG | c.5514C>G (p.Asp1838Glu) c.47C>G c.880C>G c.2169C>G c.5322C>G (p.Asp1774Glu) c.5448C>G (p.Asp1816Glu) c.5343C>G (p.Asp1781Glu) c.5295C>G (p.Asp1765Glu) c.5253C>G (p.Asp1751Glu) | gnomAD v4 |
| 8 | g.132963040C>T | CA463012090 | TG | c.5514C>T (p.Asp1838=) c.47C>T c.880C>T c.2169C>T c.5322C>T (p.Asp1774=) c.5448C>T (p.Asp1816=) c.5343C>T (p.Asp1781=) c.5295C>T (p.Asp1765=) c.5253C>T (p.Asp1751=) | ClinVar |
| 8 | g.132963041A>C | CA372231430 | TG | c.5515A>C (p.Thr1839Pro) c.48A>C c.881A>C c.2170A>C c.5323A>C (p.Thr1775Pro) c.5449A>C (p.Thr1817Pro) c.5344A>C (p.Thr1782Pro) c.5296A>C (p.Thr1766Pro) c.5254A>C (p.Thr1752Pro) | |
| 8 | g.132963041A>G | CA372231431 | TG | c.5515A>G (p.Thr1839Ala) c.48A>G c.881A>G c.2170A>G c.5323A>G (p.Thr1775Ala) c.5449A>G (p.Thr1817Ala) c.5344A>G (p.Thr1782Ala) c.5296A>G (p.Thr1766Ala) c.5254A>G (p.Thr1752Ala) | |
| 8 | g.132963041A>T | CA372231435 | TG | c.5515A>T (p.Thr1839Ser) c.48A>T c.881A>T c.2170A>T c.5323A>T (p.Thr1775Ser) c.5449A>T (p.Thr1817Ser) c.5344A>T (p.Thr1782Ser) c.5296A>T (p.Thr1766Ser) c.5254A>T (p.Thr1752Ser) | |
| 8 | g.132963042C>A | CA4884539 | TG | c.5516C>A (p.Thr1839Lys) c.49C>A c.882C>A c.2171C>A c.5324C>A (p.Thr1775Lys) c.5450C>A (p.Thr1817Lys) c.5345C>A (p.Thr1782Lys) c.5297C>A (p.Thr1766Lys) c.5255C>A (p.Thr1752Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132963042C= | CA1821029266 | TG | c.5516C= (p.Thr1839=) c.49C= c.882C= c.2171C= c.5324C= (p.Thr1775=) c.5450C= (p.Thr1817=) c.5345C= (p.Thr1782=) c.5297C= (p.Thr1766=) c.5255C= (p.Thr1752=) | |
| 8 | g.132963042C>G | CA372231444 | TG | c.5516C>G (p.Thr1839Arg) c.49C>G c.882C>G c.2171C>G c.5324C>G (p.Thr1775Arg) c.5450C>G (p.Thr1817Arg) c.5345C>G (p.Thr1782Arg) c.5297C>G (p.Thr1766Arg) c.5255C>G (p.Thr1752Arg) | dbSNP |
| 8 | g.132963042C>T | CA372231447 | TG | c.5516C>T (p.Thr1839Ile) c.49C>T c.882C>T c.2171C>T c.5324C>T (p.Thr1775Ile) c.5450C>T (p.Thr1817Ile) c.5345C>T (p.Thr1782Ile) c.5297C>T (p.Thr1766Ile) c.5255C>T (p.Thr1752Ile) | dbSNP gnomAD v4 |
| 8 | g.132963043A= | CA1821029267 | TG | c.5517A= (p.Thr1839=) c.50A= c.883A= c.2172A= c.5325A= (p.Thr1775=) c.5451A= (p.Thr1817=) c.5346A= (p.Thr1782=) c.5298A= (p.Thr1766=) c.5256A= (p.Thr1752=) | |
| 8 | g.132963043A>C | CA463012096 | TG | c.5517A>C (p.Thr1839=) c.50A>C c.883A>C c.2172A>C c.5325A>C (p.Thr1775=) c.5451A>C (p.Thr1817=) c.5346A>C (p.Thr1782=) c.5298A>C (p.Thr1766=) c.5256A>C (p.Thr1752=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132963043A>G | CA463012095 | TG | c.5517A>G (p.Thr1839=) c.50A>G c.883A>G c.2172A>G c.5325A>G (p.Thr1775=) c.5451A>G (p.Thr1817=) c.5346A>G (p.Thr1782=) c.5298A>G (p.Thr1766=) c.5256A>G (p.Thr1752=) | ClinVar gnomAD v4 |
| 8 | g.132963043A>T | CA463012093 | TG | c.5517A>T (p.Thr1839=) c.50A>T c.883A>T c.2172A>T c.5325A>T (p.Thr1775=) c.5451A>T (p.Thr1817=) c.5346A>T (p.Thr1782=) c.5298A>T (p.Thr1766=) c.5256A>T (p.Thr1752=) | |
| 8 | g.132963044G>A | CA186288680 | TG | c.5518G>A (p.Val1840Met) c.51G>A c.884G>A c.2173G>A c.5326G>A (p.Val1776Met) c.5452G>A (p.Val1818Met) c.5347G>A (p.Val1783Met) c.5299G>A (p.Val1767Met) c.5257G>A (p.Val1753Met) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132963044G>C | CA372231451 | TG | c.5518G>C (p.Val1840Leu) c.51G>C c.884G>C c.2173G>C c.5326G>C (p.Val1776Leu) c.5452G>C (p.Val1818Leu) c.5347G>C (p.Val1783Leu) c.5299G>C (p.Val1767Leu) c.5257G>C (p.Val1753Leu) | gnomAD v4 |
| 8 | g.132963044G= | CA1821029268 | TG | c.5518G= (p.Val1840=) c.51G= c.884G= c.2173G= c.5326G= (p.Val1776=) c.5452G= (p.Val1818=) c.5347G= (p.Val1783=) c.5299G= (p.Val1767=) c.5257G= (p.Val1753=) | |
| 8 | g.132963044G>T | CA372231450 | TG | c.5518G>T (p.Val1840Leu) c.51G>T c.884G>T c.2173G>T c.5326G>T (p.Val1776Leu) c.5452G>T (p.Val1818Leu) c.5347G>T (p.Val1783Leu) c.5299G>T (p.Val1767Leu) c.5257G>T (p.Val1753Leu) | |
| 8 | g.132963045T>A | CA372231456 | TG | c.5519T>A (p.Val1840Glu) c.52T>A c.885T>A c.2174T>A c.5327T>A (p.Val1776Glu) c.5453T>A (p.Val1818Glu) c.5348T>A (p.Val1783Glu) c.5300T>A (p.Val1767Glu) c.5258T>A (p.Val1753Glu) | gnomAD v4 |
| 8 | g.132963045T>C | CA372231458 | TG | c.5519T>C (p.Val1840Ala) c.52T>C c.885T>C c.2174T>C c.5327T>C (p.Val1776Ala) c.5453T>C (p.Val1818Ala) c.5348T>C (p.Val1783Ala) c.5300T>C (p.Val1767Ala) c.5258T>C (p.Val1753Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132963045T>G | CA372231460 | TG | c.5519T>G (p.Val1840Gly) c.52T>G c.885T>G c.2174T>G c.5327T>G (p.Val1776Gly) c.5453T>G (p.Val1818Gly) c.5348T>G (p.Val1783Gly) c.5300T>G (p.Val1767Gly) c.5258T>G (p.Val1753Gly) | |
| 8 | g.132963045T= | CA1821029269 | TG | c.5519T= (p.Val1840=) c.52T= c.885T= c.2174T= c.5327T= (p.Val1776=) c.5453T= (p.Val1818=) c.5348T= (p.Val1783=) c.5300T= (p.Val1767=) c.5258T= (p.Val1753=) | |
| 8 | g.132963046G>A | CA463012100 | TG | c.5520G>A (p.Val1840=) c.53G>A c.886G>A c.2175G>A c.5328G>A (p.Val1776=) c.5454G>A (p.Val1818=) c.5349G>A (p.Val1783=) c.5301G>A (p.Val1767=) c.5259G>A (p.Val1753=) | |
| 8 | g.132963046G>C | CA463012097 | TG | c.5520G>C (p.Val1840=) c.53G>C c.886G>C c.2175G>C c.5328G>C (p.Val1776=) c.5454G>C (p.Val1818=) c.5349G>C (p.Val1783=) c.5301G>C (p.Val1767=) c.5259G>C (p.Val1753=) | |
| 8 | g.132963046G>T | CA463012099 | TG | c.5520G>T (p.Val1840=) c.53G>T c.886G>T c.2175G>T c.5328G>T (p.Val1776=) c.5454G>T (p.Val1818=) c.5349G>T (p.Val1783=) c.5301G>T (p.Val1767=) c.5259G>T (p.Val1753=) | |
| 8 | g.132963047C>A | CA372231462 | TG | c.5521C>A (p.Pro1841Thr) c.54C>A c.887C>A c.2176C>A c.5329C>A (p.Pro1777Thr) c.5455C>A (p.Pro1819Thr) c.5350C>A (p.Pro1784Thr) c.5302C>A (p.Pro1768Thr) c.5260C>A (p.Pro1754Thr) | |
| 8 | g.132963047C= | CA1821029270 | TG | c.5521C= (p.Pro1841=) c.54C= c.887C= c.2176C= c.5329C= (p.Pro1777=) c.5455C= (p.Pro1819=) c.5350C= (p.Pro1784=) c.5302C= (p.Pro1768=) c.5260C= (p.Pro1754=) | |
| 8 | g.132963047C>G | CA372231463 | TG | c.5521C>G (p.Pro1841Ala) c.54C>G c.887C>G c.2176C>G c.5329C>G (p.Pro1777Ala) c.5455C>G (p.Pro1819Ala) c.5350C>G (p.Pro1784Ala) c.5302C>G (p.Pro1768Ala) c.5260C>G (p.Pro1754Ala) | |
| 8 | g.132963047C>T | CA4884540 | TG | c.5521C>T (p.Pro1841Ser) c.54C>T c.887C>T c.2176C>T c.5329C>T (p.Pro1777Ser) c.5455C>T (p.Pro1819Ser) c.5350C>T (p.Pro1784Ser) c.5302C>T (p.Pro1768Ser) c.5260C>T (p.Pro1754Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963048C>A | CA372231467 | TG | c.5522C>A (p.Pro1841Gln) c.55C>A c.888C>A c.2177C>A c.5330C>A (p.Pro1777Gln) c.5456C>A (p.Pro1819Gln) c.5351C>A (p.Pro1784Gln) c.5303C>A (p.Pro1768Gln) c.5261C>A (p.Pro1754Gln) | |
| 8 | g.132963048C>G | CA372231470 | TG | c.5522C>G (p.Pro1841Arg) c.55C>G c.888C>G c.2177C>G c.5330C>G (p.Pro1777Arg) c.5456C>G (p.Pro1819Arg) c.5351C>G (p.Pro1784Arg) c.5303C>G (p.Pro1768Arg) c.5261C>G (p.Pro1754Arg) | |
| 8 | g.132963048C>T | CA372231472 | TG | c.5522C>T (p.Pro1841Leu) c.55C>T c.888C>T c.2177C>T c.5330C>T (p.Pro1777Leu) c.5456C>T (p.Pro1819Leu) c.5351C>T (p.Pro1784Leu) c.5303C>T (p.Pro1768Leu) c.5261C>T (p.Pro1754Leu) | gnomAD v4 |
| 8 | g.132963049A= | CA1821029271 | TG | c.5523A= (p.Pro1841=) c.56A= c.889A= c.2178A= c.5331A= (p.Pro1777=) c.5457A= (p.Pro1819=) c.5352A= (p.Pro1784=) c.5304A= (p.Pro1768=) c.5262A= (p.Pro1754=) | |
| 8 | g.132963049A>C | CA463012104 | TG | c.5523A>C (p.Pro1841=) c.56A>C c.889A>C c.2178A>C c.5331A>C (p.Pro1777=) c.5457A>C (p.Pro1819=) c.5352A>C (p.Pro1784=) c.5304A>C (p.Pro1768=) c.5262A>C (p.Pro1754=) | |
| 8 | g.132963049A>G | CA463012105 | TG | c.5523A>G (p.Pro1841=) c.56A>G c.889A>G c.2178A>G c.5331A>G (p.Pro1777=) c.5457A>G (p.Pro1819=) c.5352A>G (p.Pro1784=) c.5304A>G (p.Pro1768=) c.5262A>G (p.Pro1754=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132963049A>T | CA463012106 | TG | c.5523A>T (p.Pro1841=) c.56A>T c.889A>T c.2178A>T c.5331A>T (p.Pro1777=) c.5457A>T (p.Pro1819=) c.5352A>T (p.Pro1784=) c.5304A>T (p.Pro1768=) c.5262A>T (p.Pro1754=) | |
| 8 | g.132963050A= | CA1821029272 | TG | c.5524A= (p.Arg1842=) c.57A= c.890A= c.2179A= c.5332A= (p.Arg1778=) c.5458A= (p.Arg1820=) c.5353A= (p.Arg1785=) c.5305A= (p.Arg1769=) c.5263A= (p.Arg1755=) | |
| 8 | g.132963050A>C | CA463012107 | TG | c.5524A>C (p.Arg1842=) c.57A>C c.890A>C c.2179A>C c.5332A>C (p.Arg1778=) c.5458A>C (p.Arg1820=) c.5353A>C (p.Arg1785=) c.5305A>C (p.Arg1769=) c.5263A>C (p.Arg1755=) |