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 |
|---|---|---|---|---|---|
| 1 | g.53213402del | CA859280 | CPT2 | c.1784del (p.Pro595GlnfsTer3) c.1751del (p.Pro584GlnfsTer3) c.*1770del (n.*1770del) c.*1431del (n.*1431del) c.1715del (p.Pro572GlnfsTer3) c.*37del (n.*37del) c.479del (p.Pro160GlnfsTer3) c.1820del (p.Pro607GlnfsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.53213401C>A | CA340397645 | CPT2 | c.1783C>A (p.Pro595Thr) c.1750C>A (p.Pro584Thr) c.*1769C>A (n.*1769C>A) c.*1430C>A (n.*1430C>A) c.1714C>A (p.Pro572Thr) c.*36C>A (n.*36C>A) c.478C>A (p.Pro160Thr) c.1819C>A (p.Pro607Thr) | |
| 1 | g.53213401C= | CA1167216337 | CPT2 | c.1783C= (p.Pro595=) c.1750C= (p.Pro584=) c.*1769C= (n.*1769C=) c.*1430C= (n.*1430C=) c.1714C= (p.Pro572=) c.*36C= (n.*36C=) c.478C= (p.Pro160=) c.1819C= (p.Pro607=) | |
| 1 | g.53213401C>G | CA340397646 | CPT2 | c.1783C>G (p.Pro595Ala) c.1750C>G (p.Pro584Ala) c.*1769C>G (n.*1769C>G) c.*1430C>G (n.*1430C>G) c.1714C>G (p.Pro572Ala) c.*36C>G (n.*36C>G) c.478C>G (p.Pro160Ala) c.1819C>G (p.Pro607Ala) | |
| 1 | g.53213401C>T | CA340397647 | CPT2 | c.1783C>T (p.Pro595Ser) c.1750C>T (p.Pro584Ser) c.*1769C>T (n.*1769C>T) c.*1430C>T (n.*1430C>T) c.1714C>T (p.Pro572Ser) c.*36C>T (n.*36C>T) c.478C>T (p.Pro160Ser) c.1819C>T (p.Pro607Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.53213402C>A | CA340397648 | CPT2 | c.1784C>A (p.Pro595Gln) c.1751C>A (p.Pro584Gln) c.*1770C>A (n.*1770C>A) c.*1431C>A (n.*1431C>A) c.1715C>A (p.Pro572Gln) c.*37C>A (n.*37C>A) c.479C>A (p.Pro160Gln) c.1820C>A (p.Pro607Gln) | |
| 1 | g.53213402C>G | CA340397650 | CPT2 | c.1784C>G (p.Pro595Arg) c.1751C>G (p.Pro584Arg) c.*1770C>G (n.*1770C>G) c.*1431C>G (n.*1431C>G) c.1715C>G (p.Pro572Arg) c.*37C>G (n.*37C>G) c.479C>G (p.Pro160Arg) c.1820C>G (p.Pro607Arg) | |
| 1 | g.53213402C>T | CA340397649 | CPT2 | c.1784C>T (p.Pro595Leu) c.1751C>T (p.Pro584Leu) c.*1770C>T (n.*1770C>T) c.*1431C>T (n.*1431C>T) c.1715C>T (p.Pro572Leu) c.*37C>T (n.*37C>T) c.479C>T (p.Pro160Leu) c.1820C>T (p.Pro607Leu) | |
| 1 | g.53213403A>C | CA417875269 | CPT2 | c.1785A>C (p.Pro595=) c.1752A>C (p.Pro584=) c.*1771A>C (n.*1771A>C) c.*1432A>C (n.*1432A>C) c.1716A>C (p.Pro572=) c.*38A>C (n.*38A>C) c.480A>C (p.Pro160=) c.1821A>C (p.Pro607=) | |
| 1 | g.53213403A>G | CA417875270 | CPT2 | c.1785A>G (p.Pro595=) c.1752A>G (p.Pro584=) c.*1771A>G (n.*1771A>G) c.*1432A>G (n.*1432A>G) c.1716A>G (p.Pro572=) c.*38A>G (n.*38A>G) c.480A>G (p.Pro160=) c.1821A>G (p.Pro607=) | |
| 1 | g.53213403A>T | CA417875271 | CPT2 | c.1785A>T (p.Pro595=) c.1752A>T (p.Pro584=) c.*1771A>T (n.*1771A>T) c.*1432A>T (n.*1432A>T) c.1716A>T (p.Pro572=) c.*38A>T (n.*38A>T) c.480A>T (p.Pro160=) c.1821A>T (p.Pro607=) | |
| 1 | g.53213404G>A | CA340397651 | CPT2 | c.1786G>A (p.Ala596Thr) c.1753G>A (p.Ala585Thr) c.*1772G>A (n.*1772G>A) c.*1433G>A (n.*1433G>A) c.1717G>A (p.Ala573Thr) c.*39G>A (n.*39G>A) c.481G>A (p.Ala161Thr) c.1822G>A (p.Ala608Thr) | ClinVar gnomAD v4 |
| 1 | g.53213404G>C | CA340397652 | CPT2 | c.1786G>C (p.Ala596Pro) c.1753G>C (p.Ala585Pro) c.*1772G>C (n.*1772G>C) c.*1433G>C (n.*1433G>C) c.1717G>C (p.Ala573Pro) c.*39G>C (n.*39G>C) c.481G>C (p.Ala161Pro) c.1822G>C (p.Ala608Pro) | |
| 1 | g.53213404G>T | CA340397653 | CPT2 | c.1786G>T (p.Ala596Ser) c.1753G>T (p.Ala585Ser) c.*1772G>T (n.*1772G>T) c.*1433G>T (n.*1433G>T) c.1717G>T (p.Ala573Ser) c.*39G>T (n.*39G>T) c.481G>T (p.Ala161Ser) c.1822G>T (p.Ala608Ser) | |
| 1 | g.53213405C>A | CA340397654 | CPT2 | c.1787C>A (p.Ala596Glu) c.1754C>A (p.Ala585Glu) c.*1773C>A (n.*1773C>A) c.*1434C>A (n.*1434C>A) c.1718C>A (p.Ala573Glu) c.*40C>A (n.*40C>A) c.482C>A (p.Ala161Glu) c.1823C>A (p.Ala608Glu) | |
| 1 | g.53213405C>G | CA340397655 | CPT2 | c.1787C>G (p.Ala596Gly) c.1754C>G (p.Ala585Gly) c.*1773C>G (n.*1773C>G) c.*1434C>G (n.*1434C>G) c.1718C>G (p.Ala573Gly) c.*40C>G (n.*40C>G) c.482C>G (p.Ala161Gly) c.1823C>G (p.Ala608Gly) | |
| 1 | g.53213405C>T | CA340397656 | CPT2 | c.1787C>T (p.Ala596Val) c.1754C>T (p.Ala585Val) c.*1773C>T (n.*1773C>T) c.*1434C>T (n.*1434C>T) c.1718C>T (p.Ala573Val) c.*40C>T (n.*40C>T) c.482C>T (p.Ala161Val) c.1823C>T (p.Ala608Val) | COSMIC |
| 1 | g.53213406A= | CA1167216338 | CPT2 | c.1788A= (p.Ala596=) c.1755A= (p.Ala585=) c.*1774A= (n.*1774A=) c.*1435A= (n.*1435A=) c.1719A= (p.Ala573=) c.*41A= (n.*41A=) c.483A= (p.Ala161=) c.1824A= (p.Ala608=) | |
| 1 | g.53213406A>C | CA417875274 | CPT2 | c.1788A>C (p.Ala596=) c.1755A>C (p.Ala585=) c.*1774A>C (n.*1774A>C) c.*1435A>C (n.*1435A>C) c.1719A>C (p.Ala573=) c.*41A>C (n.*41A>C) c.483A>C (p.Ala161=) c.1824A>C (p.Ala608=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.53213406A>G | CA417875276 | CPT2 | c.1788A>G (p.Ala596=) c.1755A>G (p.Ala585=) c.*1774A>G (n.*1774A>G) c.*1435A>G (n.*1435A>G) c.1719A>G (p.Ala573=) c.*41A>G (n.*41A>G) c.483A>G (p.Ala161=) c.1824A>G (p.Ala608=) | dbSNP |
| 1 | g.53213406A>T | CA417875275 | CPT2 | c.1788A>T (p.Ala596=) c.1755A>T (p.Ala585=) c.*1774A>T (n.*1774A>T) c.*1435A>T (n.*1435A>T) c.1719A>T (p.Ala573=) c.*41A>T (n.*41A>T) c.483A>T (p.Ala161=) c.1824A>T (p.Ala608=) | |
| 1 | g.53213407G>A | CA340397657 | CPT2 | c.1789G>A (p.Val597Met) c.1756G>A (p.Val586Met) c.*1775G>A (n.*1775G>A) c.*1436G>A (n.*1436G>A) c.1720G>A (p.Val574Met) c.*42G>A (n.*42G>A) c.484G>A (p.Val162Met) c.1825G>A (p.Val609Met) | |
| 1 | g.53213407G>C | CA312434 | CPT2 | c.1789G>C (p.Val597Leu) c.1756G>C (p.Val586Leu) c.*1775G>C (n.*1775G>C) c.*1436G>C (n.*1436G>C) c.1720G>C (p.Val574Leu) c.*42G>C (n.*42G>C) c.484G>C (p.Val162Leu) c.1825G>C (p.Val609Leu) | dbSNP |
| 1 | g.53213407G= | CA1167216339 | CPT2 | c.1789G= (p.Val597=) c.1756G= (p.Val586=) c.*1775G= (n.*1775G=) c.*1436G= (n.*1436G=) c.1720G= (p.Val574=) c.*42G= (n.*42G=) c.484G= (p.Val162=) c.1825G= (p.Val609=) | |
| 1 | g.53213407G>T | CA340397658 | CPT2 | c.1789G>T (p.Val597Leu) c.1756G>T (p.Val586Leu) c.*1775G>T (n.*1775G>T) c.*1436G>T (n.*1436G>T) c.1720G>T (p.Val574Leu) c.*42G>T (n.*42G>T) c.484G>T (p.Val162Leu) c.1825G>T (p.Val609Leu) | |
| 1 | g.53213408T>A | CA340397659 | CPT2 | c.1790T>A (p.Val597Glu) c.1757T>A (p.Val586Glu) c.*1776T>A (n.*1776T>A) c.*1437T>A (n.*1437T>A) c.1721T>A (p.Val574Glu) c.*43T>A (n.*43T>A) c.485T>A (p.Val162Glu) c.1826T>A (p.Val609Glu) | |
| 1 | g.53213408T>C | CA340397660 | CPT2 | c.1790T>C (p.Val597Ala) c.1757T>C (p.Val586Ala) c.*1776T>C (n.*1776T>C) c.*1437T>C (n.*1437T>C) c.1721T>C (p.Val574Ala) c.*43T>C (n.*43T>C) c.485T>C (p.Val162Ala) c.1826T>C (p.Val609Ala) | |
| 1 | g.53213408T>G | CA340397661 | CPT2 | c.1790T>G (p.Val597Gly) c.1757T>G (p.Val586Gly) c.*1776T>G (n.*1776T>G) c.*1437T>G (n.*1437T>G) c.1721T>G (p.Val574Gly) c.*43T>G (n.*43T>G) c.485T>G (p.Val162Gly) c.1826T>G (p.Val609Gly) | |
| 1 | g.53213409del | CA2645711404 | CPT2 | c.1791del (p.Asn598ThrfsTer24) c.1758del (p.Asn587ThrfsTer24) c.*1777del (n.*1777del) c.*1438del (n.*1438del) c.1722del (p.Asn575ThrfsTer24) c.*44del (n.*44del) c.486del (p.Asn163ThrfsTer24) c.1827del (p.Asn610ThrfsTer24) | gnomAD v4 |
| 1 | g.53213409G>A | CA859281 | CPT2 | c.1791G>A (p.Val597=) c.1758G>A (p.Val586=) c.*1777G>A (n.*1777G>A) c.*1438G>A (n.*1438G>A) c.1722G>A (p.Val574=) c.*44G>A (n.*44G>A) c.486G>A (p.Val162=) c.1827G>A (p.Val609=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.53213409G>C | CA417875285 | CPT2 | c.1791G>C (p.Val597=) c.1758G>C (p.Val586=) c.*1777G>C (n.*1777G>C) c.*1438G>C (n.*1438G>C) c.1722G>C (p.Val574=) c.*44G>C (n.*44G>C) c.486G>C (p.Val162=) c.1827G>C (p.Val609=) | |
| 1 | g.53213409G= | CA1167216340 | CPT2 | c.1791G= (p.Val597=) c.1758G= (p.Val586=) c.*1777G= (n.*1777G=) c.*1438G= (n.*1438G=) c.1722G= (p.Val574=) c.*44G= (n.*44G=) c.486G= (p.Val162=) c.1827G= (p.Val609=) | |
| 1 | g.53213409G>T | CA417875284 | CPT2 | c.1791G>T (p.Val597=) c.1758G>T (p.Val586=) c.*1777G>T (n.*1777G>T) c.*1438G>T (n.*1438G>T) c.1722G>T (p.Val574=) c.*44G>T (n.*44G>T) c.486G>T (p.Val162=) c.1827G>T (p.Val609=) | |
| 1 | g.53213410A>C | CA340397662 | CPT2 | c.1792A>C (p.Asn598His) c.1759A>C (p.Asn587His) c.*1778A>C (n.*1778A>C) c.*1439A>C (n.*1439A>C) c.1723A>C (p.Asn575His) c.*45A>C (n.*45A>C) c.487A>C (p.Asn163His) c.1828A>C (p.Asn610His) | gnomAD v4 |
| 1 | g.53213410A>G | CA340397664 | CPT2 | c.1792A>G (p.Asn598Asp) c.1759A>G (p.Asn587Asp) c.*1778A>G (n.*1778A>G) c.*1439A>G (n.*1439A>G) c.1723A>G (p.Asn575Asp) c.*45A>G (n.*45A>G) c.487A>G (p.Asn163Asp) c.1828A>G (p.Asn610Asp) | |
| 1 | g.53213410A>T | CA340397663 | CPT2 | c.1792A>T (p.Asn598Tyr) c.1759A>T (p.Asn587Tyr) c.*1778A>T (n.*1778A>T) c.*1439A>T (n.*1439A>T) c.1723A>T (p.Asn575Tyr) c.*45A>T (n.*45A>T) c.487A>T (p.Asn163Tyr) c.1828A>T (p.Asn610Tyr) | |
| 1 | g.53213411A>C | CA340397665 | CPT2 | c.1793A>C (p.Asn598Thr) c.1760A>C (p.Asn587Thr) c.*1779A>C (n.*1779A>C) c.*1440A>C (n.*1440A>C) c.1724A>C (p.Asn575Thr) c.*46A>C (n.*46A>C) c.488A>C (p.Asn163Thr) c.1829A>C (p.Asn610Thr) | |
| 1 | g.53213411A>G | CA340397666 | CPT2 | c.1793A>G (p.Asn598Ser) c.1760A>G (p.Asn587Ser) c.*1779A>G (n.*1779A>G) c.*1440A>G (n.*1440A>G) c.1724A>G (p.Asn575Ser) c.*46A>G (n.*46A>G) c.488A>G (p.Asn163Ser) c.1829A>G (p.Asn610Ser) | |
| 1 | g.53213411A>T | CA340397667 | CPT2 | c.1793A>T (p.Asn598Ile) c.1760A>T (p.Asn587Ile) c.*1779A>T (n.*1779A>T) c.*1440A>T (n.*1440A>T) c.1724A>T (p.Asn575Ile) c.*46A>T (n.*46A>T) c.488A>T (p.Asn163Ile) c.1829A>T (p.Asn610Ile) | |
| 1 | g.53213412C>A | CA859282 | CPT2 | c.1794C>A (p.Asn598Lys) c.1761C>A (p.Asn587Lys) c.*1780C>A (n.*1780C>A) c.*1441C>A (n.*1441C>A) c.1725C>A (p.Asn575Lys) c.*47C>A (n.*47C>A) c.489C>A (p.Asn163Lys) c.1830C>A (p.Asn610Lys) | dbSNP ExAC gnomAD v2 |
| 1 | g.53213412C= | CA1167216341 | CPT2 | c.1794C= (p.Asn598=) c.1761C= (p.Asn587=) c.*1780C= (n.*1780C=) c.*1441C= (n.*1441C=) c.1725C= (p.Asn575=) c.*47C= (n.*47C=) c.489C= (p.Asn163=) c.1830C= (p.Asn610=) | |
| 1 | g.53213412C>G | CA340397668 | CPT2 | c.1794C>G (p.Asn598Lys) c.1761C>G (p.Asn587Lys) c.*1780C>G (n.*1780C>G) c.*1441C>G (n.*1441C>G) c.1725C>G (p.Asn575Lys) c.*47C>G (n.*47C>G) c.489C>G (p.Asn163Lys) c.1830C>G (p.Asn610Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.53213412C>T | CA417875295 | CPT2 | c.1794C>T (p.Asn598=) c.1761C>T (p.Asn587=) c.*1780C>T (n.*1780C>T) c.*1441C>T (n.*1441C>T) c.1725C>T (p.Asn575=) c.*47C>T (n.*47C>T) c.489C>T (p.Asn163=) c.1830C>T (p.Asn610=) | |
| 1 | g.53213413C>A | CA340397669 | CPT2 | c.1795C>A (p.Leu599Ile) c.1762C>A (p.Leu588Ile) c.*1781C>A (n.*1781C>A) c.*1442C>A (n.*1442C>A) c.1726C>A (p.Leu576Ile) c.*48C>A (n.*48C>A) c.490C>A (p.Leu164Ile) c.1831C>A (p.Leu611Ile) | |
| 1 | g.53213413C= | CA1167216342 | CPT2 | c.1795C= (p.Leu599=) c.1762C= (p.Leu588=) c.*1781C= (n.*1781C=) c.*1442C= (n.*1442C=) c.1726C= (p.Leu576=) c.*48C= (n.*48C=) c.490C= (p.Leu164=) c.1831C= (p.Leu611=) | |
| 1 | g.53213413C>G | CA859283 | CPT2 | c.1795C>G (p.Leu599Val) c.1762C>G (p.Leu588Val) c.*1781C>G (n.*1781C>G) c.*1442C>G (n.*1442C>G) c.1726C>G (p.Leu576Val) c.*48C>G (n.*48C>G) c.490C>G (p.Leu164Val) c.1831C>G (p.Leu611Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.53213413C>T | CA340397670 | CPT2 | c.1795C>T (p.Leu599Phe) c.1762C>T (p.Leu588Phe) c.*1781C>T (n.*1781C>T) c.*1442C>T (n.*1442C>T) c.1726C>T (p.Leu576Phe) c.*48C>T (n.*48C>T) c.490C>T (p.Leu164Phe) c.1831C>T (p.Leu611Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.53213414T>A | CA340397671 | CPT2 | c.1796T>A (p.Leu599His) c.1763T>A (p.Leu588His) c.*1782T>A (n.*1782T>A) c.*1443T>A (n.*1443T>A) c.1727T>A (p.Leu576His) c.*49T>A (n.*49T>A) c.491T>A (p.Leu164His) c.1832T>A (p.Leu611His) | |
| 1 | g.53213414T>C | CA340397672 | CPT2 | c.1796T>C (p.Leu599Pro) c.1763T>C (p.Leu588Pro) c.*1782T>C (n.*1782T>C) c.*1443T>C (n.*1443T>C) c.1727T>C (p.Leu576Pro) c.*49T>C (n.*49T>C) c.491T>C (p.Leu164Pro) c.1832T>C (p.Leu611Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.53213414T>G | CA340397673 | CPT2 | c.1796T>G (p.Leu599Arg) c.1763T>G (p.Leu588Arg) c.*1782T>G (n.*1782T>G) c.*1443T>G (n.*1443T>G) c.1727T>G (p.Leu576Arg) c.*49T>G (n.*49T>G) c.491T>G (p.Leu164Arg) c.1832T>G (p.Leu611Arg) |