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 |
|---|---|---|---|---|---|
| 11 | g.22262978_22262989del | CA2695213372 | ANO5 | c.1383_1394del (p.Thr462_Thr465del) c.1791_1802del (p.Thr598_Thr601del) n.2827_2838del c.1788_1799del (p.Thr597_Thr600del) c.1833_1844del (p.Thr612_Thr615del) n.2168_2179del c.1830_1841del (p.Thr611_Thr614del) c.1755_1766del (p.Thr586_Thr589del) c.1752_1763del (p.Thr585_Thr588del) c.1740_1751del (p.Thr581_Thr584del) | |
| 11 | g.22262972A= | CA1957420192 | ANO5 | c.1377A= (p.Glu459=) c.1785A= (p.Glu595=) n.2821A= c.1782A= (p.Glu594=) c.1827A= (p.Glu609=) n.2162A= c.1824A= (p.Glu608=) c.1749A= (p.Glu583=) c.1746A= (p.Glu582=) c.1734A= (p.Glu578=) | |
| 11 | g.22262972A>C | CA379922927 | ANO5 | c.1377A>C (p.Glu459Asp) c.1785A>C (p.Glu595Asp) n.2821A>C c.1782A>C (p.Glu594Asp) c.1827A>C (p.Glu609Asp) n.2162A>C c.1824A>C (p.Glu608Asp) c.1749A>C (p.Glu583Asp) c.1746A>C (p.Glu582Asp) c.1734A>C (p.Glu578Asp) | |
| 11 | g.22262972A>G | CA473407322 | ANO5 | c.1377A>G (p.Glu459=) c.1785A>G (p.Glu595=) n.2821A>G c.1782A>G (p.Glu594=) c.1827A>G (p.Glu609=) n.2162A>G c.1824A>G (p.Glu608=) c.1749A>G (p.Glu583=) c.1746A>G (p.Glu582=) c.1734A>G (p.Glu578=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.22262972A>T | CA379922928 | ANO5 | c.1377A>T (p.Glu459Asp) c.1785A>T (p.Glu595Asp) n.2821A>T c.1782A>T (p.Glu594Asp) c.1827A>T (p.Glu609Asp) n.2162A>T c.1824A>T (p.Glu608Asp) c.1749A>T (p.Glu583Asp) c.1746A>T (p.Glu582Asp) c.1734A>T (p.Glu578Asp) | |
| 11 | g.22262973T>A | CA379922929 | ANO5 | c.1378T>A (p.Leu460Met) c.1786T>A (p.Leu596Met) n.2822T>A c.1783T>A (p.Leu595Met) c.1828T>A (p.Leu610Met) n.2163T>A c.1825T>A (p.Leu609Met) c.1750T>A (p.Leu584Met) c.1747T>A (p.Leu583Met) c.1735T>A (p.Leu579Met) | |
| 11 | g.22262973T>C | CA473407323 | ANO5 | c.1378T>C (p.Leu460=) c.1786T>C (p.Leu596=) n.2822T>C c.1783T>C (p.Leu595=) c.1828T>C (p.Leu610=) n.2163T>C c.1825T>C (p.Leu609=) c.1750T>C (p.Leu584=) c.1747T>C (p.Leu583=) c.1735T>C (p.Leu579=) | gnomAD v4 |
| 11 | g.22262973T>G | CA379922930 | ANO5 | c.1378T>G (p.Leu460Val) c.1786T>G (p.Leu596Val) n.2822T>G c.1783T>G (p.Leu595Val) c.1828T>G (p.Leu610Val) n.2163T>G c.1825T>G (p.Leu609Val) c.1750T>G (p.Leu584Val) c.1747T>G (p.Leu583Val) c.1735T>G (p.Leu579Val) | |
| 11 | g.22262974T>A | CA379922931 | ANO5 | c.1379T>A (p.Leu460Ter) c.1787T>A (p.Leu596Ter) n.2823T>A c.1784T>A (p.Leu595Ter) c.1829T>A (p.Leu610Ter) n.2164T>A c.1826T>A (p.Leu609Ter) c.1751T>A (p.Leu584Ter) c.1748T>A (p.Leu583Ter) c.1736T>A (p.Leu579Ter) | |
| 11 | g.22262974T>C | CA379922932 | ANO5 | c.1379T>C (p.Leu460Ser) c.1787T>C (p.Leu596Ser) n.2823T>C c.1784T>C (p.Leu595Ser) c.1829T>C (p.Leu610Ser) n.2164T>C c.1826T>C (p.Leu609Ser) c.1751T>C (p.Leu584Ser) c.1748T>C (p.Leu583Ser) c.1736T>C (p.Leu579Ser) | gnomAD v4 |
| 11 | g.22262974T>G | CA379922933 | ANO5 | c.1379T>G (p.Leu460Trp) c.1787T>G (p.Leu596Trp) n.2823T>G c.1784T>G (p.Leu595Trp) c.1829T>G (p.Leu610Trp) n.2164T>G c.1826T>G (p.Leu609Trp) c.1751T>G (p.Leu584Trp) c.1748T>G (p.Leu583Trp) c.1736T>G (p.Leu579Trp) | |
| 11 | g.22262975G>A | CA473407324 | ANO5 | c.1380G>A (p.Leu460=) c.1788G>A (p.Leu596=) n.2824G>A c.1785G>A (p.Leu595=) c.1830G>A (p.Leu610=) n.2165G>A c.1827G>A (p.Leu609=) c.1752G>A (p.Leu584=) c.1749G>A (p.Leu583=) c.1737G>A (p.Leu579=) | dbSNP |
| 11 | g.22262975G>C | CA379922934 | ANO5 | c.1380G>C (p.Leu460Phe) c.1788G>C (p.Leu596Phe) n.2824G>C c.1785G>C (p.Leu595Phe) c.1830G>C (p.Leu610Phe) n.2165G>C c.1827G>C (p.Leu609Phe) c.1752G>C (p.Leu584Phe) c.1749G>C (p.Leu583Phe) c.1737G>C (p.Leu579Phe) | |
| 11 | g.22262975G= | CA1957420193 | ANO5 | c.1380G= (p.Leu460=) c.1788G= (p.Leu596=) n.2824G= c.1785G= (p.Leu595=) c.1830G= (p.Leu610=) n.2165G= c.1827G= (p.Leu609=) c.1752G= (p.Leu584=) c.1749G= (p.Leu583=) c.1737G= (p.Leu579=) | |
| 11 | g.22262975G>T | CA379922935 | ANO5 | c.1380G>T (p.Leu460Phe) c.1788G>T (p.Leu596Phe) n.2824G>T c.1785G>T (p.Leu595Phe) c.1830G>T (p.Leu610Phe) n.2165G>T c.1827G>T (p.Leu609Phe) c.1752G>T (p.Leu584Phe) c.1749G>T (p.Leu583Phe) c.1737G>T (p.Leu579Phe) | COSMIC |
| 11 | g.22262976A>C | CA379922936 | ANO5 | c.1381A>C (p.Thr461Pro) c.1789A>C (p.Thr597Pro) n.2825A>C c.1786A>C (p.Thr596Pro) c.1831A>C (p.Thr611Pro) n.2166A>C c.1828A>C (p.Thr610Pro) c.1753A>C (p.Thr585Pro) c.1750A>C (p.Thr584Pro) c.1738A>C (p.Thr580Pro) | |
| 11 | g.22262976A>G | CA379922937 | ANO5 | c.1381A>G (p.Thr461Ala) c.1789A>G (p.Thr597Ala) n.2825A>G c.1786A>G (p.Thr596Ala) c.1831A>G (p.Thr611Ala) n.2166A>G c.1828A>G (p.Thr610Ala) c.1753A>G (p.Thr585Ala) c.1750A>G (p.Thr584Ala) c.1738A>G (p.Thr580Ala) | gnomAD v4 |
| 11 | g.22262976A>T | CA379922938 | ANO5 | c.1381A>T (p.Thr461Ser) c.1789A>T (p.Thr597Ser) n.2825A>T c.1786A>T (p.Thr596Ser) c.1831A>T (p.Thr611Ser) n.2166A>T c.1828A>T (p.Thr610Ser) c.1753A>T (p.Thr585Ser) c.1750A>T (p.Thr584Ser) c.1738A>T (p.Thr580Ser) | |
| 11 | g.22262977C>A | CA379922939 | ANO5 | c.1382C>A (p.Thr461Lys) c.1790C>A (p.Thr597Lys) n.2826C>A c.1787C>A (p.Thr596Lys) c.1832C>A (p.Thr611Lys) n.2167C>A c.1829C>A (p.Thr610Lys) c.1754C>A (p.Thr585Lys) c.1751C>A (p.Thr584Lys) c.1739C>A (p.Thr580Lys) | ClinVar dbSNP |
| 11 | g.22262977C>G | CA379922941 | ANO5 | c.1382C>G (p.Thr461Arg) c.1790C>G (p.Thr597Arg) n.2826C>G c.1787C>G (p.Thr596Arg) c.1832C>G (p.Thr611Arg) n.2167C>G c.1829C>G (p.Thr610Arg) c.1754C>G (p.Thr585Arg) c.1751C>G (p.Thr584Arg) c.1739C>G (p.Thr580Arg) | |
| 11 | g.22262977C>T | CA379922940 | ANO5 | c.1382C>T (p.Thr461Ile) c.1790C>T (p.Thr597Ile) n.2826C>T c.1787C>T (p.Thr596Ile) c.1832C>T (p.Thr611Ile) n.2167C>T c.1829C>T (p.Thr610Ile) c.1754C>T (p.Thr585Ile) c.1751C>T (p.Thr584Ile) c.1739C>T (p.Thr580Ile) | |
| 11 | g.22262978A>C | CA473407328 | ANO5 | c.1383A>C (p.Thr461=) c.1791A>C (p.Thr597=) n.2827A>C c.1788A>C (p.Thr596=) c.1833A>C (p.Thr611=) n.2168A>C c.1830A>C (p.Thr610=) c.1755A>C (p.Thr585=) c.1752A>C (p.Thr584=) c.1740A>C (p.Thr580=) | |
| 11 | g.22262978A>G | CA473407326 | ANO5 | c.1383A>G (p.Thr461=) c.1791A>G (p.Thr597=) n.2827A>G c.1788A>G (p.Thr596=) c.1833A>G (p.Thr611=) n.2168A>G c.1830A>G (p.Thr610=) c.1755A>G (p.Thr585=) c.1752A>G (p.Thr584=) c.1740A>G (p.Thr580=) | |
| 11 | g.22262978A>T | CA473407327 | ANO5 | c.1383A>T (p.Thr461=) c.1791A>T (p.Thr597=) n.2827A>T c.1788A>T (p.Thr596=) c.1833A>T (p.Thr611=) n.2168A>T c.1830A>T (p.Thr610=) c.1755A>T (p.Thr585=) c.1752A>T (p.Thr584=) c.1740A>T (p.Thr580=) | |
| 11 | g.22262979A>C | CA379922942 | ANO5 | c.1384A>C (p.Thr462Pro) c.1792A>C (p.Thr598Pro) n.2828A>C c.1789A>C (p.Thr597Pro) c.1834A>C (p.Thr612Pro) n.2169A>C c.1831A>C (p.Thr611Pro) c.1756A>C (p.Thr586Pro) c.1753A>C (p.Thr585Pro) c.1741A>C (p.Thr581Pro) | |
| 11 | g.22262979A>G | CA379922943 | ANO5 | c.1384A>G (p.Thr462Ala) c.1792A>G (p.Thr598Ala) n.2828A>G c.1789A>G (p.Thr597Ala) c.1834A>G (p.Thr612Ala) n.2169A>G c.1831A>G (p.Thr611Ala) c.1756A>G (p.Thr586Ala) c.1753A>G (p.Thr585Ala) c.1741A>G (p.Thr581Ala) | |
| 11 | g.22262979A>T | CA379922944 | ANO5 | c.1384A>T (p.Thr462Ser) c.1792A>T (p.Thr598Ser) n.2828A>T c.1789A>T (p.Thr597Ser) c.1834A>T (p.Thr612Ser) n.2169A>T c.1831A>T (p.Thr611Ser) c.1756A>T (p.Thr586Ser) c.1753A>T (p.Thr585Ser) c.1741A>T (p.Thr581Ser) | |
| 11 | g.22262980C>A | CA379922945 | ANO5 | c.1385C>A (p.Thr462Asn) c.1793C>A (p.Thr598Asn) n.2829C>A c.1790C>A (p.Thr597Asn) c.1835C>A (p.Thr612Asn) n.2170C>A c.1832C>A (p.Thr611Asn) c.1757C>A (p.Thr586Asn) c.1754C>A (p.Thr585Asn) c.1742C>A (p.Thr581Asn) | |
| 11 | g.22262980C>G | CA379922946 | ANO5 | c.1385C>G (p.Thr462Ser) c.1793C>G (p.Thr598Ser) n.2829C>G c.1790C>G (p.Thr597Ser) c.1835C>G (p.Thr612Ser) n.2170C>G c.1832C>G (p.Thr611Ser) c.1757C>G (p.Thr586Ser) c.1754C>G (p.Thr585Ser) c.1742C>G (p.Thr581Ser) | |
| 11 | g.22262980C>T | CA379922947 | ANO5 | c.1385C>T (p.Thr462Ile) c.1793C>T (p.Thr598Ile) n.2829C>T c.1790C>T (p.Thr597Ile) c.1835C>T (p.Thr612Ile) n.2170C>T c.1832C>T (p.Thr611Ile) c.1757C>T (p.Thr586Ile) c.1754C>T (p.Thr585Ile) c.1742C>T (p.Thr581Ile) | ClinVar gnomAD v4 |
| 11 | g.22262981C>A | CA473407330 | ANO5 | c.1386C>A (p.Thr462=) c.1794C>A (p.Thr598=) n.2830C>A c.1791C>A (p.Thr597=) c.1836C>A (p.Thr612=) n.2171C>A c.1833C>A (p.Thr611=) c.1758C>A (p.Thr586=) c.1755C>A (p.Thr585=) c.1743C>A (p.Thr581=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.22262981C= | CA1957420194 | ANO5 | c.1386C= (p.Thr462=) c.1794C= (p.Thr598=) n.2830C= c.1791C= (p.Thr597=) c.1836C= (p.Thr612=) n.2171C= c.1833C= (p.Thr611=) c.1758C= (p.Thr586=) c.1755C= (p.Thr585=) c.1743C= (p.Thr581=) | |
| 11 | g.22262981C>G | CA473407331 | ANO5 | c.1386C>G (p.Thr462=) c.1794C>G (p.Thr598=) n.2830C>G c.1791C>G (p.Thr597=) c.1836C>G (p.Thr612=) n.2171C>G c.1833C>G (p.Thr611=) c.1758C>G (p.Thr586=) c.1755C>G (p.Thr585=) c.1743C>G (p.Thr581=) | dbSNP gnomAD v4 |
| 11 | g.22262981C>T | CA473407332 | ANO5 | c.1386C>T (p.Thr462=) c.1794C>T (p.Thr598=) n.2830C>T c.1791C>T (p.Thr597=) c.1836C>T (p.Thr612=) n.2171C>T c.1833C>T (p.Thr611=) c.1758C>T (p.Thr586=) c.1755C>T (p.Thr585=) c.1743C>T (p.Thr581=) | dbSNP |
| 11 | g.22262981_22262983delinsCCA | CA1957420195 | ANO5 | c.1386_1388delinsCCA (p.Thr462=) c.1794_1796delinsCCA (p.Thr598=) n.2830_2832delinsCCA c.1791_1793delinsCCA (p.Thr597=) c.1836_1838delinsCCA (p.Thr612=) n.2171_2173delinsCCA c.1833_1835delinsCCA (p.Thr611=) c.1758_1760delinsCCA (p.Thr586=) c.1755_1757delinsCCA (p.Thr585=) c.1743_1745delinsCCA (p.Thr581=) | |
| 11 | g.22262981_22262982insA | CA2612838569 | ANO5 | c.1386_1387insA (p.Gln463ThrfsTer16) c.1794_1795insA (p.Gln599ThrfsTer16) n.2830_2831insA c.1791_1792insA (p.Gln598ThrfsTer16) c.1836_1837insA (p.Gln613ThrfsTer16) n.2171_2172insA c.1833_1834insA (p.Gln612ThrfsTer16) c.1758_1759insA (p.Gln587ThrfsTer16) c.1755_1756insA (p.Gln586ThrfsTer16) c.1743_1744insA (p.Gln582ThrfsTer16) | gnomAD v4 |
| 11 | g.22262982C>A | CA379922948 | ANO5 | c.1387C>A (p.Gln463Lys) c.1795C>A (p.Gln599Lys) n.2831C>A c.1792C>A (p.Gln598Lys) c.1837C>A (p.Gln613Lys) n.2172C>A c.1834C>A (p.Gln612Lys) c.1759C>A (p.Gln587Lys) c.1756C>A (p.Gln586Lys) c.1744C>A (p.Gln582Lys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.22262982C= | CA1957420197 | ANO5 | c.1387C= (p.Gln463=) c.1795C= (p.Gln599=) n.2831C= c.1792C= (p.Gln598=) c.1837C= (p.Gln613=) n.2172C= c.1834C= (p.Gln612=) c.1759C= (p.Gln587=) c.1756C= (p.Gln586=) c.1744C= (p.Gln582=) | |
| 11 | g.22262982C>G | CA379922949 | ANO5 | c.1387C>G (p.Gln463Glu) c.1795C>G (p.Gln599Glu) n.2831C>G c.1792C>G (p.Gln598Glu) c.1837C>G (p.Gln613Glu) n.2172C>G c.1834C>G (p.Gln612Glu) c.1759C>G (p.Gln587Glu) c.1756C>G (p.Gln586Glu) c.1744C>G (p.Gln582Glu) | gnomAD v4 |
| 11 | g.22262982C>T | CA379922950 | ANO5 | c.1387C>T (p.Gln463Ter) c.1795C>T (p.Gln599Ter) n.2831C>T c.1792C>T (p.Gln598Ter) c.1837C>T (p.Gln613Ter) n.2172C>T c.1834C>T (p.Gln612Ter) c.1759C>T (p.Gln587Ter) c.1756C>T (p.Gln586Ter) c.1744C>T (p.Gln582Ter) | |
| 11 | g.22262982_22262983del | CA1957420196 | ANO5 | c.1387_1388del (p.Gln463IlefsTer15) c.1795_1796del (p.Gln599IlefsTer15) n.2831_2832del c.1792_1793del (p.Gln598IlefsTer15) c.1837_1838del (p.Gln613IlefsTer15) n.2172_2173del c.1834_1835del (p.Gln612IlefsTer15) c.1759_1760del (p.Gln587IlefsTer15) c.1756_1757del (p.Gln586IlefsTer15) c.1744_1745del (p.Gln582IlefsTer15) | dbSNP gnomAD v4 |
| 11 | g.22262983A>C | CA379922951 | ANO5 | c.1388A>C (p.Gln463Pro) c.1796A>C (p.Gln599Pro) n.2832A>C c.1793A>C (p.Gln598Pro) c.1838A>C (p.Gln613Pro) n.2173A>C c.1835A>C (p.Gln612Pro) c.1760A>C (p.Gln587Pro) c.1757A>C (p.Gln586Pro) c.1745A>C (p.Gln582Pro) | |
| 11 | g.22262983A>G | CA379922952 | ANO5 | c.1388A>G (p.Gln463Arg) c.1796A>G (p.Gln599Arg) n.2832A>G c.1793A>G (p.Gln598Arg) c.1838A>G (p.Gln613Arg) n.2173A>G c.1835A>G (p.Gln612Arg) c.1760A>G (p.Gln587Arg) c.1757A>G (p.Gln586Arg) c.1745A>G (p.Gln582Arg) | |
| 11 | g.22262983A>T | CA379922953 | ANO5 | c.1388A>T (p.Gln463Leu) c.1796A>T (p.Gln599Leu) n.2832A>T c.1793A>T (p.Gln598Leu) c.1838A>T (p.Gln613Leu) n.2173A>T c.1835A>T (p.Gln612Leu) c.1760A>T (p.Gln587Leu) c.1757A>T (p.Gln586Leu) c.1745A>T (p.Gln582Leu) | |
| 11 | g.22262984A= | CA1957420198 | ANO5 | c.1389A= (p.Gln463=) c.1797A= (p.Gln599=) n.2833A= c.1794A= (p.Gln598=) c.1839A= (p.Gln613=) n.2174A= c.1836A= (p.Gln612=) c.1761A= (p.Gln587=) c.1758A= (p.Gln586=) c.1746A= (p.Gln582=) | |
| 11 | g.22262984A>C | CA379922955 | ANO5 | c.1389A>C (p.Gln463His) c.1797A>C (p.Gln599His) n.2833A>C c.1794A>C (p.Gln598His) c.1839A>C (p.Gln613His) n.2174A>C c.1836A>C (p.Gln612His) c.1761A>C (p.Gln587His) c.1758A>C (p.Gln586His) c.1746A>C (p.Gln582His) | |
| 11 | g.22262984A>G | CA5923371 | ANO5 | c.1389A>G (p.Gln463=) c.1797A>G (p.Gln599=) n.2833A>G c.1794A>G (p.Gln598=) c.1839A>G (p.Gln613=) n.2174A>G c.1836A>G (p.Gln612=) c.1761A>G (p.Gln587=) c.1758A>G (p.Gln586=) c.1746A>G (p.Gln582=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22262984A>T | CA379922954 | ANO5 | c.1389A>T (p.Gln463His) c.1797A>T (p.Gln599His) n.2833A>T c.1794A>T (p.Gln598His) c.1839A>T (p.Gln613His) n.2174A>T c.1836A>T (p.Gln612His) c.1761A>T (p.Gln587His) c.1758A>T (p.Gln586His) c.1746A>T (p.Gln582His) | |
| 11 | g.22262985T>A | CA379922956 | ANO5 | c.1390T>A (p.Leu464Met) c.1798T>A (p.Leu600Met) n.2834T>A c.1795T>A (p.Leu599Met) c.1840T>A (p.Leu614Met) n.2175T>A c.1837T>A (p.Leu613Met) c.1762T>A (p.Leu588Met) c.1759T>A (p.Leu587Met) c.1747T>A (p.Leu583Met) | gnomAD v4 |
| 11 | g.22262985T>C | CA5923372 | ANO5 | c.1390T>C (p.Leu464=) c.1798T>C (p.Leu600=) n.2834T>C c.1795T>C (p.Leu599=) c.1840T>C (p.Leu614=) n.2175T>C c.1837T>C (p.Leu613=) c.1762T>C (p.Leu588=) c.1759T>C (p.Leu587=) c.1747T>C (p.Leu583=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |