Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.162435379T>ACA349221047KCNH7c.1773A>T (p.Leu591Phe)
c.1752A>T (p.Leu584Phe)
c.1473A>T (p.Leu491Phe)
c.1446A>T (p.Leu482Phe)
c.1797A>T (p.Leu599Phe)
2g.162435379T>CCA429731756KCNH7c.1773A>G (p.Leu591=)
c.1752A>G (p.Leu584=)
c.1473A>G (p.Leu491=)
c.1446A>G (p.Leu482=)
c.1797A>G (p.Leu599=)
2g.162435379T>GCA349221048KCNH7c.1773A>C (p.Leu591Phe)
c.1752A>C (p.Leu584Phe)
c.1473A>C (p.Leu491Phe)
c.1446A>C (p.Leu482Phe)
c.1797A>C (p.Leu599Phe)
2g.162435380A>CCA349221049KCNH7c.1772T>G (p.Leu591Ter)
c.1751T>G (p.Leu584Ter)
c.1472T>G (p.Leu491Ter)
c.1445T>G (p.Leu482Ter)
c.1796T>G (p.Leu599Ter)
2g.162435380A>GCA349221050KCNH7c.1772T>C (p.Leu591Ser)
c.1751T>C (p.Leu584Ser)
c.1472T>C (p.Leu491Ser)
c.1445T>C (p.Leu482Ser)
c.1796T>C (p.Leu599Ser)
gnomAD v4
2g.162435380A>TCA349221051KCNH7c.1772T>A (p.Leu591Ter)
c.1751T>A (p.Leu584Ter)
c.1472T>A (p.Leu491Ter)
c.1445T>A (p.Leu482Ter)
c.1796T>A (p.Leu599Ter)
2g.162435381A>CCA349221052KCNH7c.1771T>G (p.Leu591Val)
c.1750T>G (p.Leu584Val)
c.1471T>G (p.Leu491Val)
c.1444T>G (p.Leu482Val)
c.1795T>G (p.Leu599Val)
2g.162435381A>GCA429731758KCNH7c.1771T>C (p.Leu591=)
c.1750T>C (p.Leu584=)
c.1471T>C (p.Leu491=)
c.1444T>C (p.Leu482=)
c.1795T>C (p.Leu599=)
2g.162435381A>TCA349221053KCNH7c.1771T>A (p.Leu591Ile)
c.1750T>A (p.Leu584Ile)
c.1471T>A (p.Leu491Ile)
c.1444T>A (p.Leu482Ile)
c.1795T>A (p.Leu599Ile)
2g.162435382G>ACA429731760KCNH7c.1770C>T (p.Ser590=)
c.1749C>T (p.Ser583=)
c.1470C>T (p.Ser490=)
c.1443C>T (p.Ser481=)
c.1794C>T (p.Ser598=)
2g.162435382G>CCA429731761KCNH7c.1770C>G (p.Ser590=)
c.1749C>G (p.Ser583=)
c.1470C>G (p.Ser490=)
c.1443C>G (p.Ser481=)
c.1794C>G (p.Ser598=)
2g.162435382G>TCA429731762KCNH7c.1770C>A (p.Ser590=)
c.1749C>A (p.Ser583=)
c.1470C>A (p.Ser490=)
c.1443C>A (p.Ser481=)
c.1794C>A (p.Ser598=)
2g.162435383G>ACA349221054KCNH7c.1769C>T (p.Ser590Phe)
c.1748C>T (p.Ser583Phe)
c.1469C>T (p.Ser490Phe)
c.1442C>T (p.Ser481Phe)
c.1793C>T (p.Ser598Phe)
gnomAD v4 COSMIC
2g.162435383G>CCA349221055KCNH7c.1769C>G (p.Ser590Cys)
c.1748C>G (p.Ser583Cys)
c.1469C>G (p.Ser490Cys)
c.1442C>G (p.Ser481Cys)
c.1793C>G (p.Ser598Cys)
2g.162435383G>TCA349221056KCNH7c.1769C>A (p.Ser590Tyr)
c.1748C>A (p.Ser583Tyr)
c.1469C>A (p.Ser490Tyr)
c.1442C>A (p.Ser481Tyr)
c.1793C>A (p.Ser598Tyr)
2g.162435384A>CCA349221057KCNH7c.1768T>G (p.Ser590Ala)
c.1747T>G (p.Ser583Ala)
c.1468T>G (p.Ser490Ala)
c.1441T>G (p.Ser481Ala)
c.1792T>G (p.Ser598Ala)
2g.162435384A>GCA349221058KCNH7c.1768T>C (p.Ser590Pro)
c.1747T>C (p.Ser583Pro)
c.1468T>C (p.Ser490Pro)
c.1441T>C (p.Ser481Pro)
c.1792T>C (p.Ser598Pro)
2g.162435384A>TCA349221059KCNH7c.1768T>A (p.Ser590Thr)
c.1747T>A (p.Ser583Thr)
c.1468T>A (p.Ser490Thr)
c.1441T>A (p.Ser481Thr)
c.1792T>A (p.Ser598Thr)
2g.162435385A=CA1303221319KCNH7c.1767T= (p.Asp589=)
c.1746T= (p.Asp582=)
c.1467T= (p.Asp489=)
c.1440T= (p.Asp480=)
c.1791T= (p.Asp597=)
2g.162435385A>CCA349221060KCNH7c.1767T>G (p.Asp589Glu)
c.1746T>G (p.Asp582Glu)
c.1467T>G (p.Asp489Glu)
c.1440T>G (p.Asp480Glu)
c.1791T>G (p.Asp597Glu)
2g.162435385A>GCA1935630KCNH7c.1767T>C (p.Asp589=)
c.1746T>C (p.Asp582=)
c.1467T>C (p.Asp489=)
c.1440T>C (p.Asp480=)
c.1791T>C (p.Asp597=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.162435385A>TCA349221061KCNH7c.1767T>A (p.Asp589Glu)
c.1746T>A (p.Asp582Glu)
c.1467T>A (p.Asp489Glu)
c.1440T>A (p.Asp480Glu)
c.1791T>A (p.Asp597Glu)
2g.162435386T>ACA349221062KCNH7c.1766A>T (p.Asp589Val)
c.1745A>T (p.Asp582Val)
c.1466A>T (p.Asp489Val)
c.1439A>T (p.Asp480Val)
c.1790A>T (p.Asp597Val)
2g.162435386T>CCA349221063KCNH7c.1766A>G (p.Asp589Gly)
c.1745A>G (p.Asp582Gly)
c.1466A>G (p.Asp489Gly)
c.1439A>G (p.Asp480Gly)
c.1790A>G (p.Asp597Gly)
2g.162435386T>GCA349221064KCNH7c.1766A>C (p.Asp589Ala)
c.1745A>C (p.Asp582Ala)
c.1466A>C (p.Asp489Ala)
c.1439A>C (p.Asp480Ala)
c.1790A>C (p.Asp597Ala)
2g.162435387C>ACA349221065KCNH7c.1765G>T (p.Asp589Tyr)
c.1744G>T (p.Asp582Tyr)
c.1465G>T (p.Asp489Tyr)
c.1438G>T (p.Asp480Tyr)
c.1789G>T (p.Asp597Tyr)
2g.162435387C>GCA349221066KCNH7c.1765G>C (p.Asp589His)
c.1744G>C (p.Asp582His)
c.1465G>C (p.Asp489His)
c.1438G>C (p.Asp480His)
c.1789G>C (p.Asp597His)
2g.162435387C>TCA349221067KCNH7c.1765G>A (p.Asp589Asn)
c.1744G>A (p.Asp582Asn)
c.1465G>A (p.Asp489Asn)
c.1438G>A (p.Asp480Asn)
c.1789G>A (p.Asp597Asn)
2g.162435388C>ACA349221068KCNH7c.1764G>T (p.Leu588Phe)
c.1743G>T (p.Leu581Phe)
c.1464G>T (p.Leu488Phe)
c.1437G>T (p.Leu479Phe)
c.1788G>T (p.Leu596Phe)
2g.162435388C>GCA349221069KCNH7c.1764G>C (p.Leu588Phe)
c.1743G>C (p.Leu581Phe)
c.1464G>C (p.Leu488Phe)
c.1437G>C (p.Leu479Phe)
c.1788G>C (p.Leu596Phe)
2g.162435388C>TCA429731771KCNH7c.1764G>A (p.Leu588=)
c.1743G>A (p.Leu581=)
c.1464G>A (p.Leu488=)
c.1437G>A (p.Leu479=)
c.1788G>A (p.Leu596=)
2g.162435389A>CCA349221070KCNH7c.1763T>G (p.Leu588Trp)
c.1742T>G (p.Leu581Trp)
c.1463T>G (p.Leu488Trp)
c.1436T>G (p.Leu479Trp)
c.1787T>G (p.Leu596Trp)
2g.162435389A>GCA349221071KCNH7c.1763T>C (p.Leu588Ser)
c.1742T>C (p.Leu581Ser)
c.1463T>C (p.Leu488Ser)
c.1436T>C (p.Leu479Ser)
c.1787T>C (p.Leu596Ser)
2g.162435389A>TCA349221072KCNH7c.1763T>A (p.Leu588Ter)
c.1742T>A (p.Leu581Ter)
c.1463T>A (p.Leu488Ter)
c.1436T>A (p.Leu479Ter)
c.1787T>A (p.Leu596Ter)
2g.162435390A>CCA349221073KCNH7c.1762T>G (p.Leu588Val)
c.1741T>G (p.Leu581Val)
c.1462T>G (p.Leu488Val)
c.1435T>G (p.Leu479Val)
c.1786T>G (p.Leu596Val)
2g.162435390A>GCA429731774KCNH7c.1762T>C (p.Leu588=)
c.1741T>C (p.Leu581=)
c.1462T>C (p.Leu488=)
c.1435T>C (p.Leu479=)
c.1786T>C (p.Leu596=)
2g.162435390A>TCA349221074KCNH7c.1762T>A (p.Leu588Met)
c.1741T>A (p.Leu581Met)
c.1462T>A (p.Leu488Met)
c.1435T>A (p.Leu479Met)
c.1786T>A (p.Leu596Met)
2g.162435391C>ACA349221075KCNH7c.1761G>T (p.Trp587Cys)
c.1740G>T (p.Trp580Cys)
c.1461G>T (p.Trp487Cys)
c.1434G>T (p.Trp478Cys)
c.1785G>T (p.Trp595Cys)
2g.162435391C>GCA349221076KCNH7c.1761G>C (p.Trp587Cys)
c.1740G>C (p.Trp580Cys)
c.1461G>C (p.Trp487Cys)
c.1434G>C (p.Trp478Cys)
c.1785G>C (p.Trp595Cys)
2g.162435391C>TCA349221077KCNH7c.1761G>A (p.Trp587Ter)
c.1740G>A (p.Trp580Ter)
c.1461G>A (p.Trp487Ter)
c.1434G>A (p.Trp478Ter)
c.1785G>A (p.Trp595Ter)
2g.162435392C>ACA349221078KCNH7c.1760G>T (p.Trp587Leu)
c.1739G>T (p.Trp580Leu)
c.1460G>T (p.Trp487Leu)
c.1433G>T (p.Trp478Leu)
c.1784G>T (p.Trp595Leu)
2g.162435392C>GCA349221079KCNH7c.1760G>C (p.Trp587Ser)
c.1739G>C (p.Trp580Ser)
c.1460G>C (p.Trp487Ser)
c.1433G>C (p.Trp478Ser)
c.1784G>C (p.Trp595Ser)
2g.162435392C>TCA349221080KCNH7c.1760G>A (p.Trp587Ter)
c.1739G>A (p.Trp580Ter)
c.1460G>A (p.Trp487Ter)
c.1433G>A (p.Trp478Ter)
c.1784G>A (p.Trp595Ter)
2g.162435393A>CCA349221081KCNH7c.1759T>G (p.Trp587Gly)
c.1738T>G (p.Trp580Gly)
c.1459T>G (p.Trp487Gly)
c.1432T>G (p.Trp478Gly)
c.1783T>G (p.Trp595Gly)
2g.162435393A>GCA349221082KCNH7c.1759T>C (p.Trp587Arg)
c.1738T>C (p.Trp580Arg)
c.1459T>C (p.Trp487Arg)
c.1432T>C (p.Trp478Arg)
c.1783T>C (p.Trp595Arg)
2g.162435393A>TCA349221083KCNH7c.1759T>A (p.Trp587Arg)
c.1738T>A (p.Trp580Arg)
c.1459T>A (p.Trp487Arg)
c.1432T>A (p.Trp478Arg)
c.1783T>A (p.Trp595Arg)
2g.162435394T>ACA429731780KCNH7c.1758A>T (p.Gly586=)
c.1737A>T (p.Gly579=)
c.1458A>T (p.Gly486=)
c.1431A>T (p.Gly477=)
c.1782A>T (p.Gly594=)
2g.162435394T>CCA429731782KCNH7c.1758A>G (p.Gly586=)
c.1737A>G (p.Gly579=)
c.1458A>G (p.Gly486=)
c.1431A>G (p.Gly477=)
c.1782A>G (p.Gly594=)
2g.162435394T>GCA429731781KCNH7c.1758A>C (p.Gly586=)
c.1737A>C (p.Gly579=)
c.1458A>C (p.Gly486=)
c.1431A>C (p.Gly477=)
c.1782A>C (p.Gly594=)
2g.162435395C>ACA349221084KCNH7c.1757G>T (p.Gly586Val)
c.1736G>T (p.Gly579Val)
c.1457G>T (p.Gly486Val)
c.1430G>T (p.Gly477Val)
c.1781G>T (p.Gly594Val)
COSMIC COSMIC
2g.162435395C=CA1303221320KCNH7c.1757G= (p.Gly586=)
c.1736G= (p.Gly579=)
c.1457G= (p.Gly486=)
c.1430G= (p.Gly477=)
c.1781G= (p.Gly594=)
2g.162435395C>GCA349221085KCNH7c.1757G>C (p.Gly586Ala)
c.1736G>C (p.Gly579Ala)
c.1457G>C (p.Gly486Ala)
c.1430G>C (p.Gly477Ala)
c.1781G>C (p.Gly594Ala)
2g.162435395C>TCA59809358KCNH7c.1757G>A (p.Gly586Glu)
c.1736G>A (p.Gly579Glu)
c.1457G>A (p.Gly486Glu)
c.1430G>A (p.Gly477Glu)
c.1781G>A (p.Gly594Glu)
dbSNP COSMIC
2g.162435396C>ACA349221087KCNH7c.1756G>T (p.Gly586Ter)
c.1735G>T (p.Gly579Ter)
c.1456G>T (p.Gly486Ter)
c.1429G>T (p.Gly477Ter)
c.1780G>T (p.Gly594Ter)
2g.162435396C=CA1303221321KCNH7c.1756G= (p.Gly586=)
c.1735G= (p.Gly579=)
c.1456G= (p.Gly486=)
c.1429G= (p.Gly477=)
c.1780G= (p.Gly594=)
2g.162435396C>GCA349221086KCNH7c.1756G>C (p.Gly586Arg)
c.1735G>C (p.Gly579Arg)
c.1456G>C (p.Gly486Arg)
c.1429G>C (p.Gly477Arg)
c.1780G>C (p.Gly594Arg)
2g.162435396C>TCA1935631KCNH7c.1756G>A (p.Gly586Arg)
c.1735G>A (p.Gly579Arg)
c.1456G>A (p.Gly486Arg)
c.1429G>A (p.Gly477Arg)
c.1780G>A (p.Gly594Arg)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.162435397G>ACA429731787KCNH7c.1755C>T (p.Ile585=)
c.1734C>T (p.Ile578=)
c.1455C>T (p.Ile485=)
c.1428C>T (p.Ile476=)
c.1779C>T (p.Ile593=)
gnomAD v4 COSMIC COSMIC
2g.162435397G>CCA349221088KCNH7c.1755C>G (p.Ile585Met)
c.1734C>G (p.Ile578Met)
c.1455C>G (p.Ile485Met)
c.1428C>G (p.Ile476Met)
c.1779C>G (p.Ile593Met)
2g.162435397G>TCA429731788KCNH7c.1755C>A (p.Ile585=)
c.1734C>A (p.Ile578=)
c.1455C>A (p.Ile485=)
c.1428C>A (p.Ile476=)
c.1779C>A (p.Ile593=)
gnomAD v4
2g.162435398A>CCA349221089KCNH7c.1754T>G (p.Ile585Ser)
c.1733T>G (p.Ile578Ser)
c.1454T>G (p.Ile485Ser)
c.1427T>G (p.Ile476Ser)
c.1778T>G (p.Ile593Ser)
2g.162435398A>GCA349221090KCNH7c.1754T>C (p.Ile585Thr)
c.1733T>C (p.Ile578Thr)
c.1454T>C (p.Ile485Thr)
c.1427T>C (p.Ile476Thr)
c.1778T>C (p.Ile593Thr)
2g.162435398A>TCA349221091KCNH7c.1754T>A (p.Ile585Asn)
c.1733T>A (p.Ile578Asn)
c.1454T>A (p.Ile485Asn)
c.1427T>A (p.Ile476Asn)
c.1778T>A (p.Ile593Asn)
2g.162435399T>ACA349221092KCNH7c.1753A>T (p.Ile585Phe)
c.1732A>T (p.Ile578Phe)
c.1453A>T (p.Ile485Phe)
c.1426A>T (p.Ile476Phe)
c.1777A>T (p.Ile593Phe)
2g.162435399T>CCA349221093KCNH7c.1753A>G (p.Ile585Val)
c.1732A>G (p.Ile578Val)
c.1453A>G (p.Ile485Val)
c.1426A>G (p.Ile476Val)
c.1777A>G (p.Ile593Val)
2g.162435399T>GCA349221094KCNH7c.1753A>C (p.Ile585Leu)
c.1732A>C (p.Ile578Leu)
c.1453A>C (p.Ile485Leu)
c.1426A>C (p.Ile476Leu)
c.1777A>C (p.Ile593Leu)
2g.162435400T>ACA349221095KCNH7c.1752A>T (p.Lys584Asn)
c.1731A>T (p.Lys577Asn)
c.1452A>T (p.Lys484Asn)
c.1425A>T (p.Lys475Asn)
c.1776A>T (p.Lys592Asn)
2g.162435400T>CCA429731791KCNH7c.1752A>G (p.Lys584=)
c.1731A>G (p.Lys577=)
c.1452A>G (p.Lys484=)
c.1425A>G (p.Lys475=)
c.1776A>G (p.Lys592=)
2g.162435400T>GCA349221096KCNH7c.1752A>C (p.Lys584Asn)
c.1731A>C (p.Lys577Asn)
c.1452A>C (p.Lys484Asn)
c.1425A>C (p.Lys475Asn)
c.1776A>C (p.Lys592Asn)
2g.162435401T>ACA349221097KCNH7c.1751A>T (p.Lys584Ile)
c.1730A>T (p.Lys577Ile)
c.1451A>T (p.Lys484Ile)
c.1424A>T (p.Lys475Ile)
c.1775A>T (p.Lys592Ile)
2g.162435401T>CCA349221098KCNH7c.1751A>G (p.Lys584Arg)
c.1730A>G (p.Lys577Arg)
c.1451A>G (p.Lys484Arg)
c.1424A>G (p.Lys475Arg)
c.1775A>G (p.Lys592Arg)
2g.162435401T>GCA349221099KCNH7c.1751A>C (p.Lys584Thr)
c.1730A>C (p.Lys577Thr)
c.1451A>C (p.Lys484Thr)
c.1424A>C (p.Lys475Thr)
c.1775A>C (p.Lys592Thr)
2g.162435402T>ACA349221102KCNH7c.1750A>T (p.Lys584Ter)
c.1729A>T (p.Lys577Ter)
c.1450A>T (p.Lys484Ter)
c.1423A>T (p.Lys475Ter)
c.1774A>T (p.Lys592Ter)
2g.162435402T>CCA349221101KCNH7c.1750A>G (p.Lys584Glu)
c.1729A>G (p.Lys577Glu)
c.1450A>G (p.Lys484Glu)
c.1423A>G (p.Lys475Glu)
c.1774A>G (p.Lys592Glu)
2g.162435402T>GCA349221100KCNH7c.1750A>C (p.Lys584Gln)
c.1729A>C (p.Lys577Gln)
c.1450A>C (p.Lys484Gln)
c.1423A>C (p.Lys475Gln)
c.1774A>C (p.Lys592Gln)
2g.162435403_162435404delCA2700909896KCNH7c.1749_1750del (p.Asp583GlufsTer18)
c.1728_1729del (p.Asp576GlufsTer18)
c.1449_1450del (p.Asp483GlufsTer18)
c.1422_1423del (p.Asp474GlufsTer18)
c.1773_1774del (p.Asp591GlufsTer18)
dbSNP
2g.162435403G>ACA429731793KCNH7c.1749C>T (p.Asp583=)
c.1728C>T (p.Asp576=)
c.1449C>T (p.Asp483=)
c.1422C>T (p.Asp474=)
c.1773C>T (p.Asp591=)
gnomAD v4
2g.162435403G>CCA349221103KCNH7c.1749C>G (p.Asp583Glu)
c.1728C>G (p.Asp576Glu)
c.1449C>G (p.Asp483Glu)
c.1422C>G (p.Asp474Glu)
c.1773C>G (p.Asp591Glu)
2g.162435403G=CA1303221322KCNH7c.1749C= (p.Asp583=)
c.1728C= (p.Asp576=)
c.1449C= (p.Asp483=)
c.1422C= (p.Asp474=)
c.1773C= (p.Asp591=)
2g.162435403G>TCA1935632KCNH7c.1749C>A (p.Asp583Glu)
c.1728C>A (p.Asp576Glu)
c.1449C>A (p.Asp483Glu)
c.1422C>A (p.Asp474Glu)
c.1773C>A (p.Asp591Glu)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.162435404T>ACA349221104KCNH7c.1748A>T (p.Asp583Val)
c.1727A>T (p.Asp576Val)
c.1448A>T (p.Asp483Val)
c.1421A>T (p.Asp474Val)
c.1772A>T (p.Asp591Val)
2g.162435404T>CCA349221105KCNH7c.1748A>G (p.Asp583Gly)
c.1727A>G (p.Asp576Gly)
c.1448A>G (p.Asp483Gly)
c.1421A>G (p.Asp474Gly)
c.1772A>G (p.Asp591Gly)
gnomAD v4
2g.162435404T>GCA349221106KCNH7c.1748A>C (p.Asp583Ala)
c.1727A>C (p.Asp576Ala)
c.1448A>C (p.Asp483Ala)
c.1421A>C (p.Asp474Ala)
c.1772A>C (p.Asp591Ala)
2g.162435405C>ACA349221107KCNH7c.1747G>T (p.Asp583Tyr)
c.1726G>T (p.Asp576Tyr)
c.1447G>T (p.Asp483Tyr)
c.1420G>T (p.Asp474Tyr)
c.1771G>T (p.Asp591Tyr)
COSMIC COSMIC
2g.162435405C>GCA349221108KCNH7c.1747G>C (p.Asp583His)
c.1726G>C (p.Asp576His)
c.1447G>C (p.Asp483His)
c.1420G>C (p.Asp474His)
c.1771G>C (p.Asp591His)
2g.162435405C>TCA349221109KCNH7c.1747G>A (p.Asp583Asn)
c.1726G>A (p.Asp576Asn)
c.1447G>A (p.Asp483Asn)
c.1420G>A (p.Asp474Asn)
c.1771G>A (p.Asp591Asn)
2g.162435406A>CCA429731797KCNH7c.1746T>G (p.Thr582=)
c.1725T>G (p.Thr575=)
c.1446T>G (p.Thr482=)
c.1419T>G (p.Thr473=)
c.1770T>G (p.Thr590=)
2g.162435406A>GCA429731799KCNH7c.1746T>C (p.Thr582=)
c.1725T>C (p.Thr575=)
c.1446T>C (p.Thr482=)
c.1419T>C (p.Thr473=)
c.1770T>C (p.Thr590=)
2g.162435406A>TCA429731801KCNH7c.1746T>A (p.Thr582=)
c.1725T>A (p.Thr575=)
c.1446T>A (p.Thr482=)
c.1419T>A (p.Thr473=)
c.1770T>A (p.Thr590=)
2g.162435407G>ACA1935633KCNH7c.1745C>T (p.Thr582Ile)
c.1724C>T (p.Thr575Ile)
c.1445C>T (p.Thr482Ile)
c.1418C>T (p.Thr473Ile)
c.1769C>T (p.Thr590Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.162435407G>CCA349221110KCNH7c.1745C>G (p.Thr582Ser)
c.1724C>G (p.Thr575Ser)
c.1445C>G (p.Thr482Ser)
c.1418C>G (p.Thr473Ser)
c.1769C>G (p.Thr590Ser)
2g.162435407G=CA1303221324KCNH7c.1745C= (p.Thr582=)
c.1724C= (p.Thr575=)
c.1445C= (p.Thr482=)
c.1418C= (p.Thr473=)
c.1769C= (p.Thr590=)
2g.162435407G>TCA349221111KCNH7c.1745C>A (p.Thr582Asn)
c.1724C>A (p.Thr575Asn)
c.1445C>A (p.Thr482Asn)
c.1418C>A (p.Thr473Asn)
c.1769C>A (p.Thr590Asn)
2g.162435408T>ACA349221112KCNH7c.1744A>T (p.Thr582Ser)
c.1723A>T (p.Thr575Ser)
c.1444A>T (p.Thr482Ser)
c.1417A>T (p.Thr473Ser)
c.1768A>T (p.Thr590Ser)
2g.162435408T>CCA349221113KCNH7c.1744A>G (p.Thr582Ala)
c.1723A>G (p.Thr575Ala)
c.1444A>G (p.Thr482Ala)
c.1417A>G (p.Thr473Ala)
c.1768A>G (p.Thr590Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.162435408T>GCA349221114KCNH7c.1744A>C (p.Thr582Pro)
c.1723A>C (p.Thr575Pro)
c.1444A>C (p.Thr482Pro)
c.1417A>C (p.Thr473Pro)
c.1768A>C (p.Thr590Pro)
2g.162435408T=CA1303221327KCNH7c.1744A= (p.Thr582=)
c.1723A= (p.Thr575=)
c.1444A= (p.Thr482=)
c.1417A= (p.Thr473=)
c.1768A= (p.Thr590=)
2g.162435409C>ACA429731804KCNH7c.1743G>T (p.Leu581=)
c.1722G>T (p.Leu574=)
c.1443G>T (p.Leu481=)
c.1416G>T (p.Leu472=)
c.1767G>T (p.Leu589=)
2g.162435409C>GCA429731805KCNH7c.1743G>C (p.Leu581=)
c.1722G>C (p.Leu574=)
c.1443G>C (p.Leu481=)
c.1416G>C (p.Leu472=)
c.1767G>C (p.Leu589=)
2g.162435409C>TCA429731803KCNH7c.1743G>A (p.Leu581=)
c.1722G>A (p.Leu574=)
c.1443G>A (p.Leu481=)
c.1416G>A (p.Leu472=)
c.1767G>A (p.Leu589=)
gnomAD v4
2g.162435410A=CA1303221328KCNH7c.1742T= (p.Leu581=)
c.1721T= (p.Leu574=)
c.1442T= (p.Leu481=)
c.1415T= (p.Leu472=)
c.1766T= (p.Leu589=)
2g.162435410A>CCA349221116KCNH7c.1742T>G (p.Leu581Arg)
c.1721T>G (p.Leu574Arg)
c.1442T>G (p.Leu481Arg)
c.1415T>G (p.Leu472Arg)
c.1766T>G (p.Leu589Arg)
2g.162435410A>GCA349221115KCNH7c.1742T>C (p.Leu581Pro)
c.1721T>C (p.Leu574Pro)
c.1442T>C (p.Leu481Pro)
c.1415T>C (p.Leu472Pro)
c.1766T>C (p.Leu589Pro)
gnomAD v4
2g.162435410A>TCA1935634KCNH7c.1742T>A (p.Leu581Gln)
c.1721T>A (p.Leu574Gln)
c.1442T>A (p.Leu481Gln)
c.1415T>A (p.Leu472Gln)
c.1766T>A (p.Leu589Gln)
dbSNP ExAC gnomAD v2
2g.162435411G>ACA429731807KCNH7c.1741C>T (p.Leu581=)
c.1720C>T (p.Leu574=)
c.1441C>T (p.Leu481=)
c.1414C>T (p.Leu472=)
c.1765C>T (p.Leu589=)
2g.162435411G>CCA349221117KCNH7c.1741C>G (p.Leu581Val)
c.1720C>G (p.Leu574Val)
c.1441C>G (p.Leu481Val)
c.1414C>G (p.Leu472Val)
c.1765C>G (p.Leu589Val)
2g.162435411G>TCA349221118KCNH7c.1741C>A (p.Leu581Met)
c.1720C>A (p.Leu574Met)
c.1441C>A (p.Leu481Met)
c.1414C>A (p.Leu472Met)
c.1765C>A (p.Leu589Met)
2g.162435412G>ACA1935635KCNH7c.1740C>T (p.Tyr580=)
c.1719C>T (p.Tyr573=)
c.1440C>T (p.Tyr480=)
c.1413C>T (p.Tyr471=)
c.1764C>T (p.Tyr588=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.162435412G>CCA349221119KCNH7c.1740C>G (p.Tyr580Ter)
c.1719C>G (p.Tyr573Ter)
c.1440C>G (p.Tyr480Ter)
c.1413C>G (p.Tyr471Ter)
c.1764C>G (p.Tyr588Ter)
2g.162435412G=CA1303221329KCNH7c.1740C= (p.Tyr580=)
c.1719C= (p.Tyr573=)
c.1440C= (p.Tyr480=)
c.1413C= (p.Tyr471=)
c.1764C= (p.Tyr588=)
2g.162435412G>TCA349221120KCNH7c.1740C>A (p.Tyr580Ter)
c.1719C>A (p.Tyr573Ter)
c.1440C>A (p.Tyr480Ter)
c.1413C>A (p.Tyr471Ter)
c.1764C>A (p.Tyr588Ter)
2g.162435413T>ACA349221121KCNH7c.1739A>T (p.Tyr580Phe)
c.1718A>T (p.Tyr573Phe)
c.1439A>T (p.Tyr480Phe)
c.1412A>T (p.Tyr471Phe)
c.1763A>T (p.Tyr588Phe)
2g.162435413T>CCA349221122KCNH7c.1739A>G (p.Tyr580Cys)
c.1718A>G (p.Tyr573Cys)
c.1439A>G (p.Tyr480Cys)
c.1412A>G (p.Tyr471Cys)
c.1763A>G (p.Tyr588Cys)
2g.162435413T>GCA349221123KCNH7c.1739A>C (p.Tyr580Ser)
c.1718A>C (p.Tyr573Ser)
c.1439A>C (p.Tyr480Ser)
c.1412A>C (p.Tyr471Ser)
c.1763A>C (p.Tyr588Ser)
2g.162435414A=CA1303221330KCNH7c.1738T= (p.Tyr580=)
c.1717T= (p.Tyr573=)
c.1438T= (p.Tyr480=)
c.1411T= (p.Tyr471=)
c.1762T= (p.Tyr588=)
2g.162435414A>CCA349221124KCNH7c.1738T>G (p.Tyr580Asp)
c.1717T>G (p.Tyr573Asp)
c.1438T>G (p.Tyr480Asp)
c.1411T>G (p.Tyr471Asp)
c.1762T>G (p.Tyr588Asp)
2g.162435414A>GCA349221125KCNH7c.1738T>C (p.Tyr580His)
c.1717T>C (p.Tyr573His)
c.1438T>C (p.Tyr480His)
c.1411T>C (p.Tyr471His)
c.1762T>C (p.Tyr588His)
2g.162435414A>TCA349221126KCNH7c.1738T>A (p.Tyr580Asn)
c.1717T>A (p.Tyr573Asn)
c.1438T>A (p.Tyr480Asn)
c.1411T>A (p.Tyr471Asn)
c.1762T>A (p.Tyr588Asn)
dbSNP gnomAD v2 gnomAD v4
2g.162435415A>CCA429731811KCNH7c.1737T>G (p.Pro579=)
c.1716T>G (p.Pro572=)
c.1437T>G (p.Pro479=)
c.1410T>G (p.Pro470=)
c.1761T>G (p.Pro587=)
2g.162435415A>GCA429731810KCNH7c.1737T>C (p.Pro579=)
c.1716T>C (p.Pro572=)
c.1437T>C (p.Pro479=)
c.1410T>C (p.Pro470=)
c.1761T>C (p.Pro587=)
2g.162435415A>TCA429731809KCNH7c.1737T>A (p.Pro579=)
c.1716T>A (p.Pro572=)
c.1437T>A (p.Pro479=)
c.1410T>A (p.Pro470=)
c.1761T>A (p.Pro587=)
2g.162435416G>ACA349221128KCNH7c.1736C>T (p.Pro579Leu)
c.1715C>T (p.Pro572Leu)
c.1436C>T (p.Pro479Leu)
c.1409C>T (p.Pro470Leu)
c.1760C>T (p.Pro587Leu)
2g.162435416G>CCA349221129KCNH7c.1736C>G (p.Pro579Arg)
c.1715C>G (p.Pro572Arg)
c.1436C>G (p.Pro479Arg)
c.1409C>G (p.Pro470Arg)
c.1760C>G (p.Pro587Arg)
2g.162435416G>TCA349221127KCNH7c.1736C>A (p.Pro579His)
c.1715C>A (p.Pro572His)
c.1436C>A (p.Pro479His)
c.1409C>A (p.Pro470His)
c.1760C>A (p.Pro587His)
2g.162435417G>ACA349221130KCNH7c.1735C>T (p.Pro579Ser)
c.1714C>T (p.Pro572Ser)
c.1435C>T (p.Pro479Ser)
c.1408C>T (p.Pro470Ser)
c.1759C>T (p.Pro587Ser)
gnomAD v4
2g.162435417G>CCA59809372KCNH7c.1735C>G (p.Pro579Ala)
c.1714C>G (p.Pro572Ala)
c.1435C>G (p.Pro479Ala)
c.1408C>G (p.Pro470Ala)
c.1759C>G (p.Pro587Ala)
dbSNP gnomAD v4
2g.162435417G=CA1303221331KCNH7c.1735C= (p.Pro579=)
c.1714C= (p.Pro572=)
c.1435C= (p.Pro479=)
c.1408C= (p.Pro470=)
c.1759C= (p.Pro587=)
2g.162435417G>TCA349221131KCNH7c.1735C>A (p.Pro579Thr)
c.1714C>A (p.Pro572Thr)
c.1435C>A (p.Pro479Thr)
c.1408C>A (p.Pro470Thr)
c.1759C>A (p.Pro587Thr)
2g.162435418C>ACA349221132KCNH7c.1734G>T (p.Arg578Ser)
c.1713G>T (p.Arg571Ser)
c.1434G>T (p.Arg478Ser)
c.1407G>T (p.Arg469Ser)
c.1758G>T (p.Arg586Ser)
2g.162435418C>GCA349221133KCNH7c.1734G>C (p.Arg578Ser)
c.1713G>C (p.Arg571Ser)
c.1434G>C (p.Arg478Ser)
c.1407G>C (p.Arg469Ser)
c.1758G>C (p.Arg586Ser)
gnomAD v4
2g.162435418C>TCA429731813KCNH7c.1734G>A (p.Arg578=)
c.1713G>A (p.Arg571=)
c.1434G>A (p.Arg478=)
c.1407G>A (p.Arg469=)
c.1758G>A (p.Arg586=)
gnomAD v4
2g.162435419C>ACA349221136KCNH7c.1733G>T (p.Arg578Met)
c.1712G>T (p.Arg571Met)
c.1433G>T (p.Arg478Met)
c.1406G>T (p.Arg469Met)
c.1757G>T (p.Arg586Met)
2g.162435419C=CA1303221332KCNH7c.1733G= (p.Arg578=)
c.1712G= (p.Arg571=)
c.1433G= (p.Arg478=)
c.1406G= (p.Arg469=)
c.1757G= (p.Arg586=)
2g.162435419C>GCA349221135KCNH7c.1733G>C (p.Arg578Thr)
c.1712G>C (p.Arg571Thr)
c.1433G>C (p.Arg478Thr)
c.1406G>C (p.Arg469Thr)
c.1757G>C (p.Arg586Thr)
2g.162435419C>TCA349221134KCNH7c.1733G>A (p.Arg578Lys)
c.1712G>A (p.Arg571Lys)
c.1433G>A (p.Arg478Lys)
c.1406G>A (p.Arg469Lys)
c.1757G>A (p.Arg586Lys)
2g.162435420T>ACA349221137KCNH7c.1732A>T (p.Arg578Trp)
c.1711A>T (p.Arg571Trp)
c.1432A>T (p.Arg478Trp)
c.1405A>T (p.Arg469Trp)
c.1756A>T (p.Arg586Trp)
COSMIC COSMIC
2g.162435420T>CCA349221138KCNH7c.1732A>G (p.Arg578Gly)
c.1711A>G (p.Arg571Gly)
c.1432A>G (p.Arg478Gly)
c.1405A>G (p.Arg469Gly)
c.1756A>G (p.Arg586Gly)
gnomAD v4
2g.162435420T>GCA429731816KCNH7c.1732A>C (p.Arg578=)
c.1711A>C (p.Arg571=)
c.1432A>C (p.Arg478=)
c.1405A>C (p.Arg469=)
c.1756A>C (p.Arg586=)
2g.162435424_162435425insCTTCTGTTGTCTATTAGGATAGAATAATACCTTGAAATTAATATTTCTCA1935636KCNH7c.1732_1733insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA (p.Glu577_Arg578insIleLeuIleSerArgTyrTyrSerIleLeuIleAspAsnArgArgGlu)
c.1711_1712insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA (p.Glu570_Arg571insIleLeuIleSerArgTyrTyrSerIleLeuIleAspAsnArgArgGlu)
c.1432_1433insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA (p.Glu477_Arg478insIleLeuIleSerArgTyrTyrSerIleLeuIleAspAsnArgArgGlu)
c.1405_1406insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA (p.Glu468_Arg469insIleLeuIleSerArgTyrTyrSerIleLeuIleAspAsnArgArgGlu)
c.1756_1757insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA (p.Glu585_Arg586insIleLeuIleSerArgTyrTyrSerIleLeuIleAspAsnArgArgGlu)
dbSNP ExAC
2g.162435421T>ACA349221139KCNH7c.1731A>T (p.Glu577Asp)
c.1710A>T (p.Glu570Asp)
c.1431A>T (p.Glu477Asp)
c.1404A>T (p.Glu468Asp)
c.1755A>T (p.Glu585Asp)
2g.162435421T>CCA1935637KCNH7c.1731A>G (p.Glu577=)
c.1710A>G (p.Glu570=)
c.1431A>G (p.Glu477=)
c.1404A>G (p.Glu468=)
c.1755A>G (p.Glu585=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.162435421T>GCA349221140KCNH7c.1731A>C (p.Glu577Asp)
c.1710A>C (p.Glu570Asp)
c.1431A>C (p.Glu477Asp)
c.1404A>C (p.Glu468Asp)
c.1755A>C (p.Glu585Asp)
2g.162435421T=CA1303221339KCNH7c.1731A= (p.Glu577=)
c.1710A= (p.Glu570=)
c.1431A= (p.Glu477=)
c.1404A= (p.Glu468=)
c.1755A= (p.Glu585=)
2g.162435422T>ACA349221141KCNH7c.1730A>T (p.Glu577Val)
c.1709A>T (p.Glu570Val)
c.1430A>T (p.Glu477Val)
c.1403A>T (p.Glu468Val)
c.1754A>T (p.Glu585Val)
2g.162435422T>CCA349221143KCNH7c.1730A>G (p.Glu577Gly)
c.1709A>G (p.Glu570Gly)
c.1430A>G (p.Glu477Gly)
c.1403A>G (p.Glu468Gly)
c.1754A>G (p.Glu585Gly)
gnomAD v4
2g.162435422T>GCA349221142KCNH7c.1730A>C (p.Glu577Ala)
c.1709A>C (p.Glu570Ala)
c.1430A>C (p.Glu477Ala)
c.1403A>C (p.Glu468Ala)
c.1754A>C (p.Glu585Ala)
2g.162435423C>ACA349221144KCNH7c.1729G>T (p.Glu577Ter)
c.1708G>T (p.Glu570Ter)
c.1429G>T (p.Glu477Ter)
c.1402G>T (p.Glu468Ter)
c.1753G>T (p.Glu585Ter)
2g.162435423C>GCA349221145KCNH7c.1729G>C (p.Glu577Gln)
c.1708G>C (p.Glu570Gln)
c.1429G>C (p.Glu477Gln)
c.1402G>C (p.Glu468Gln)
c.1753G>C (p.Glu585Gln)
2g.162435423C>TCA349221146KCNH7c.1729G>A (p.Glu577Lys)
c.1708G>A (p.Glu570Lys)
c.1429G>A (p.Glu477Lys)
c.1402G>A (p.Glu468Lys)
c.1753G>A (p.Glu585Lys)
COSMIC COSMIC
2g.162435424T>ACA429731820KCNH7c.1728A>T (p.Val576=)
c.1707A>T (p.Val569=)
c.1428A>T (p.Val476=)
c.1401A>T (p.Val467=)
c.1752A>T (p.Val584=)
2g.162435424T>CCA1935638KCNH7c.1728A>G (p.Val576=)
c.1707A>G (p.Val569=)
c.1428A>G (p.Val476=)
c.1401A>G (p.Val467=)
c.1752A>G (p.Val584=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.162435424T>GCA429731821KCNH7c.1728A>C (p.Val576=)
c.1707A>C (p.Val569=)
c.1428A>C (p.Val476=)
c.1401A>C (p.Val467=)
c.1752A>C (p.Val584=)
2g.162435424T=CA1303221341KCNH7c.1728A= (p.Val576=)
c.1707A= (p.Val569=)
c.1428A= (p.Val476=)
c.1401A= (p.Val467=)
c.1752A= (p.Val584=)
2g.162435425A>CCA349221147KCNH7c.1727T>G (p.Val576Gly)
c.1706T>G (p.Val569Gly)
c.1427T>G (p.Val476Gly)
c.1400T>G (p.Val467Gly)
c.1751T>G (p.Val584Gly)
2g.162435425A>GCA349221148KCNH7c.1727T>C (p.Val576Ala)
c.1706T>C (p.Val569Ala)
c.1427T>C (p.Val476Ala)
c.1400T>C (p.Val467Ala)
c.1751T>C (p.Val584Ala)
dbSNP gnomAD v4
2g.162435425A>TCA349221149KCNH7c.1727T>A (p.Val576Glu)
c.1706T>A (p.Val569Glu)
c.1427T>A (p.Val476Glu)
c.1400T>A (p.Val467Glu)
c.1751T>A (p.Val584Glu)
2g.162435426C>ACA349221150KCNH7c.1726G>T (p.Val576Leu)
c.1705G>T (p.Val569Leu)
c.1426G>T (p.Val476Leu)
c.1399G>T (p.Val467Leu)
c.1750G>T (p.Val584Leu)
2g.162435426C=CA1303221344KCNH7c.1726G= (p.Val576=)
c.1705G= (p.Val569=)
c.1426G= (p.Val476=)
c.1399G= (p.Val467=)
c.1750G= (p.Val584=)
2g.162435426C>GCA349221151KCNH7c.1726G>C (p.Val576Leu)
c.1705G>C (p.Val569Leu)
c.1426G>C (p.Val476Leu)
c.1399G>C (p.Val467Leu)
c.1750G>C (p.Val584Leu)
2g.162435426C>TCA59809375KCNH7c.1726G>A (p.Val576Ile)
c.1705G>A (p.Val569Ile)
c.1426G>A (p.Val476Ile)
c.1399G>A (p.Val467Ile)
c.1750G>A (p.Val584Ile)
dbSNP gnomAD v4
2g.162435427A=CA1303221345KCNH7c.1725T= (p.Asn575=)
c.1704T= (p.Asn568=)
c.1425T= (p.Asn475=)
c.1398T= (p.Asn466=)
c.1749T= (p.Asn583=)
2g.162435427A>CCA349221152KCNH7c.1725T>G (p.Asn575Lys)
c.1704T>G (p.Asn568Lys)
c.1425T>G (p.Asn475Lys)
c.1398T>G (p.Asn466Lys)
c.1749T>G (p.Asn583Lys)
2g.162435427A>GCA1935639KCNH7c.1725T>C (p.Asn575=)
c.1704T>C (p.Asn568=)
c.1425T>C (p.Asn475=)
c.1398T>C (p.Asn466=)
c.1749T>C (p.Asn583=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.162435427A>TCA349221153KCNH7c.1725T>A (p.Asn575Lys)
c.1704T>A (p.Asn568Lys)
c.1425T>A (p.Asn475Lys)
c.1398T>A (p.Asn466Lys)
c.1749T>A (p.Asn583Lys)
dbSNP
2g.162435428T>ACA349221155KCNH7c.1724A>T (p.Asn575Ile)
c.1703A>T (p.Asn568Ile)
c.1424A>T (p.Asn475Ile)
c.1397A>T (p.Asn466Ile)
c.1748A>T (p.Asn583Ile)
2g.162435428T>CCA349221156KCNH7c.1724A>G (p.Asn575Ser)
c.1703A>G (p.Asn568Ser)
c.1424A>G (p.Asn475Ser)
c.1397A>G (p.Asn466Ser)
c.1748A>G (p.Asn583Ser)
2g.162435428T>GCA349221154KCNH7c.1724A>C (p.Asn575Thr)
c.1703A>C (p.Asn568Thr)
c.1424A>C (p.Asn475Thr)
c.1397A>C (p.Asn466Thr)
c.1748A>C (p.Asn583Thr)
2g.162435429T>ACA349221157KCNH7c.1723A>T (p.Asn575Tyr)
c.1702A>T (p.Asn568Tyr)
c.1423A>T (p.Asn475Tyr)
c.1396A>T (p.Asn466Tyr)
c.1747A>T (p.Asn583Tyr)
2g.162435429T>CCA349221159KCNH7c.1723A>G (p.Asn575Asp)
c.1702A>G (p.Asn568Asp)
c.1423A>G (p.Asn475Asp)
c.1396A>G (p.Asn466Asp)
c.1747A>G (p.Asn583Asp)
dbSNP
2g.162435429T>GCA349221158KCNH7c.1723A>C (p.Asn575His)
c.1702A>C (p.Asn568His)
c.1423A>C (p.Asn475His)
c.1396A>C (p.Asn466His)
c.1747A>C (p.Asn583His)
2g.162435429T=CA1303221346KCNH7c.1723A= (p.Asn575=)
c.1702A= (p.Asn568=)
c.1423A= (p.Asn475=)
c.1396A= (p.Asn466=)
c.1747A= (p.Asn583=)
2g.162435430C>ACA429731826KCNH7c.1722G>T (p.Gly574=)
c.1701G>T (p.Gly567=)
c.1422G>T (p.Gly474=)
c.1395G>T (p.Gly465=)
c.1746G>T (p.Gly582=)
2g.162435430C=CA1303221347KCNH7c.1722G= (p.Gly574=)
c.1701G= (p.Gly567=)
c.1422G= (p.Gly474=)
c.1395G= (p.Gly465=)
c.1746G= (p.Gly582=)
2g.162435430C>GCA429731828KCNH7c.1722G>C (p.Gly574=)
c.1701G>C (p.Gly567=)
c.1422G>C (p.Gly474=)
c.1395G>C (p.Gly465=)
c.1746G>C (p.Gly582=)
2g.162435430C>TCA1935640KCNH7c.1722G>A (p.Gly574=)
c.1701G>A (p.Gly567=)
c.1422G>A (p.Gly474=)
c.1395G>A (p.Gly465=)
c.1746G>A (p.Gly582=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.162435431C>ACA349221160KCNH7c.1721G>T (p.Gly574Val)
c.1700G>T (p.Gly567Val)
c.1421G>T (p.Gly474Val)
c.1394G>T (p.Gly465Val)
c.1745G>T (p.Gly582Val)
2g.162435431C>GCA349221161KCNH7c.1721G>C (p.Gly574Ala)
c.1700G>C (p.Gly567Ala)
c.1421G>C (p.Gly474Ala)
c.1394G>C (p.Gly465Ala)
c.1745G>C (p.Gly582Ala)
2g.162435431C>TCA349221162KCNH7c.1721G>A (p.Gly574Glu)
c.1700G>A (p.Gly567Glu)
c.1421G>A (p.Gly474Glu)
c.1394G>A (p.Gly465Glu)
c.1745G>A (p.Gly582Glu)
2g.162435432C>ACA349221163KCNH7c.1720G>T (p.Gly574Trp)
c.1699G>T (p.Gly567Trp)
c.1420G>T (p.Gly474Trp)
c.1393G>T (p.Gly465Trp)
c.1744G>T (p.Gly582Trp)
2g.162435432C>GCA349221164KCNH7c.1720G>C (p.Gly574Arg)
c.1699G>C (p.Gly567Arg)
c.1420G>C (p.Gly474Arg)
c.1393G>C (p.Gly465Arg)
c.1744G>C (p.Gly582Arg)
2g.162435432C>TCA349221165KCNH7c.1720G>A (p.Gly574Arg)
c.1699G>A (p.Gly567Arg)
c.1420G>A (p.Gly474Arg)
c.1393G>A (p.Gly465Arg)
c.1744G>A (p.Gly582Arg)
2g.162435433A>CCA349221166KCNH7c.1719T>G (p.Ile573Met)
c.1698T>G (p.Ile566Met)
c.1419T>G (p.Ile473Met)
c.1392T>G (p.Ile464Met)
c.1743T>G (p.Ile581Met)
2g.162435433A>GCA429731830KCNH7c.1719T>C (p.Ile573=)
c.1698T>C (p.Ile566=)
c.1419T>C (p.Ile473=)
c.1392T>C (p.Ile464=)
c.1743T>C (p.Ile581=)
2g.162435433A>TCA429731831KCNH7c.1719T>A (p.Ile573=)
c.1698T>A (p.Ile566=)
c.1419T>A (p.Ile473=)
c.1392T>A (p.Ile464=)
c.1743T>A (p.Ile581=)
2g.162435434A>CCA349221167KCNH7c.1718T>G (p.Ile573Ser)
c.1697T>G (p.Ile566Ser)
c.1418T>G (p.Ile473Ser)
c.1391T>G (p.Ile464Ser)
c.1742T>G (p.Ile581Ser)
2g.162435434A>GCA349221168KCNH7c.1718T>C (p.Ile573Thr)
c.1697T>C (p.Ile566Thr)
c.1418T>C (p.Ile473Thr)
c.1391T>C (p.Ile464Thr)
c.1742T>C (p.Ile581Thr)
COSMIC COSMIC
2g.162435434A>TCA349221169KCNH7c.1718T>A (p.Ile573Asn)
c.1697T>A (p.Ile566Asn)
c.1418T>A (p.Ile473Asn)
c.1391T>A (p.Ile464Asn)
c.1742T>A (p.Ile581Asn)
2g.162435435T>ACA349221172KCNH7c.1717A>T (p.Ile573Phe)
c.1696A>T (p.Ile566Phe)
c.1417A>T (p.Ile473Phe)
c.1390A>T (p.Ile464Phe)
c.1741A>T (p.Ile581Phe)
2g.162435435T>CCA349221171KCNH7c.1717A>G (p.Ile573Val)
c.1696A>G (p.Ile566Val)
c.1417A>G (p.Ile473Val)
c.1390A>G (p.Ile464Val)
c.1741A>G (p.Ile581Val)
dbSNP
2g.162435435T>GCA349221170KCNH7c.1717A>C (p.Ile573Leu)
c.1696A>C (p.Ile566Leu)
c.1417A>C (p.Ile473Leu)
c.1390A>C (p.Ile464Leu)
c.1741A>C (p.Ile581Leu)
2g.162435435T=CA1303221348KCNH7c.1717A= (p.Ile573=)
c.1696A= (p.Ile566=)
c.1417A= (p.Ile473=)
c.1390A= (p.Ile464=)
c.1741A= (p.Ile581=)
2g.162435436C>ACA429731834KCNH7c.1716G>T (p.Ala572=)
c.1695G>T (p.Ala565=)
c.1416G>T (p.Ala472=)
c.1389G>T (p.Ala463=)
c.1740G>T (p.Ala580=)
2g.162435436C=CA1303221349KCNH7c.1716G= (p.Ala572=)
c.1695G= (p.Ala565=)
c.1416G= (p.Ala472=)
c.1389G= (p.Ala463=)
c.1740G= (p.Ala580=)
2g.162435436C>GCA429731835KCNH7c.1716G>C (p.Ala572=)
c.1695G>C (p.Ala565=)
c.1416G>C (p.Ala472=)
c.1389G>C (p.Ala463=)
c.1740G>C (p.Ala580=)
gnomAD v4
2g.162435436C>TCA1935641KCNH7c.1716G>A (p.Ala572=)
c.1695G>A (p.Ala565=)
c.1416G>A (p.Ala472=)
c.1389G>A (p.Ala463=)
c.1740G>A (p.Ala580=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.162435437G>ACA349221173KCNH7c.1715C>T (p.Ala572Val)
c.1694C>T (p.Ala565Val)
c.1415C>T (p.Ala472Val)
c.1388C>T (p.Ala463Val)
c.1739C>T (p.Ala580Val)
COSMIC COSMIC
2g.162435437G>CCA349221174KCNH7c.1715C>G (p.Ala572Gly)
c.1694C>G (p.Ala565Gly)
c.1415C>G (p.Ala472Gly)
c.1388C>G (p.Ala463Gly)
c.1739C>G (p.Ala580Gly)
2g.162435437G>TCA349221175KCNH7c.1715C>A (p.Ala572Glu)
c.1694C>A (p.Ala565Glu)
c.1415C>A (p.Ala472Glu)
c.1388C>A (p.Ala463Glu)
c.1739C>A (p.Ala580Glu)
2g.162435438C>ACA349221176KCNH7c.1714G>T (p.Ala572Ser)
c.1693G>T (p.Ala565Ser)
c.1414G>T (p.Ala472Ser)
c.1387G>T (p.Ala463Ser)
c.1738G>T (p.Ala580Ser)
2g.162435438C>GCA349221177KCNH7c.1714G>C (p.Ala572Pro)
c.1693G>C (p.Ala565Pro)
c.1414G>C (p.Ala472Pro)
c.1387G>C (p.Ala463Pro)
c.1738G>C (p.Ala580Pro)
2g.162435438C>TCA349221178KCNH7c.1714G>A (p.Ala572Thr)
c.1693G>A (p.Ala565Thr)
c.1414G>A (p.Ala472Thr)
c.1387G>A (p.Ala463Thr)
c.1738G>A (p.Ala580Thr)
gnomAD v4
2g.162435439A>CCA349221179KCNH7c.1713T>G (p.Tyr571Ter)
c.1692T>G (p.Tyr564Ter)
c.1413T>G (p.Tyr471Ter)
c.1386T>G (p.Tyr462Ter)
c.1737T>G (p.Tyr579Ter)
2g.162435439A>GCA429731841KCNH7c.1713T>C (p.Tyr571=)
c.1692T>C (p.Tyr564=)
c.1413T>C (p.Tyr471=)
c.1386T>C (p.Tyr462=)
c.1737T>C (p.Tyr579=)
2g.162435439A>TCA349221180KCNH7c.1713T>A (p.Tyr571Ter)
c.1692T>A (p.Tyr564Ter)
c.1413T>A (p.Tyr471Ter)
c.1386T>A (p.Tyr462Ter)
c.1737T>A (p.Tyr579Ter)
2g.162435440T>ACA349221181KCNH7c.1712A>T (p.Tyr571Phe)
c.1691A>T (p.Tyr564Phe)
c.1412A>T (p.Tyr471Phe)
c.1385A>T (p.Tyr462Phe)
c.1736A>T (p.Tyr579Phe)
2g.162435440T>CCA349221182KCNH7c.1712A>G (p.Tyr571Cys)
c.1691A>G (p.Tyr564Cys)
c.1412A>G (p.Tyr471Cys)
c.1385A>G (p.Tyr462Cys)
c.1736A>G (p.Tyr579Cys)
dbSNP gnomAD v2 gnomAD v4
2g.162435440T>GCA349221183KCNH7c.1712A>C (p.Tyr571Ser)
c.1691A>C (p.Tyr564Ser)
c.1412A>C (p.Tyr471Ser)
c.1385A>C (p.Tyr462Ser)
c.1736A>C (p.Tyr579Ser)
2g.162435440T=CA1303221350KCNH7c.1712A= (p.Tyr571=)
c.1691A= (p.Tyr564=)
c.1412A= (p.Tyr471=)
c.1385A= (p.Tyr462=)
c.1736A= (p.Tyr579=)
2g.162435441A>CCA349221186KCNH7c.1711T>G (p.Tyr571Asp)
c.1690T>G (p.Tyr564Asp)
c.1411T>G (p.Tyr471Asp)
c.1384T>G (p.Tyr462Asp)
c.1735T>G (p.Tyr579Asp)
2g.162435441A>GCA349221185KCNH7c.1711T>C (p.Tyr571His)
c.1690T>C (p.Tyr564His)
c.1411T>C (p.Tyr471His)
c.1384T>C (p.Tyr462His)
c.1735T>C (p.Tyr579His)
2g.162435441A>TCA349221184KCNH7c.1711T>A (p.Tyr571Asn)
c.1690T>A (p.Tyr564Asn)
c.1411T>A (p.Tyr471Asn)
c.1384T>A (p.Tyr462Asn)
c.1735T>A (p.Tyr579Asn)
2g.162435442C>ACA349221189KCNH7c.1710G>T (p.Trp570Cys)
c.1689G>T (p.Trp563Cys)
c.1410G>T (p.Trp470Cys)
c.1383G>T (p.Trp461Cys)
c.1734G>T (p.Trp578Cys)
2g.162435442C>GCA349221187KCNH7c.1710G>C (p.Trp570Cys)
c.1689G>C (p.Trp563Cys)
c.1410G>C (p.Trp470Cys)
c.1383G>C (p.Trp461Cys)
c.1734G>C (p.Trp578Cys)
2g.162435442C>TCA349221188KCNH7c.1710G>A (p.Trp570Ter)
c.1689G>A (p.Trp563Ter)
c.1410G>A (p.Trp470Ter)
c.1383G>A (p.Trp461Ter)
c.1734G>A (p.Trp578Ter)
2g.162435443C>ACA349221190KCNH7c.1709G>T (p.Trp570Leu)
c.1688G>T (p.Trp563Leu)
c.1409G>T (p.Trp470Leu)
c.1382G>T (p.Trp461Leu)
c.1733G>T (p.Trp578Leu)
dbSNP
2g.162435443C=CA1303221351KCNH7c.1709G= (p.Trp570=)
c.1688G= (p.Trp563=)
c.1409G= (p.Trp470=)
c.1382G= (p.Trp461=)
c.1733G= (p.Trp578=)
2g.162435443C>GCA349221191KCNH7c.1709G>C (p.Trp570Ser)
c.1688G>C (p.Trp563Ser)
c.1409G>C (p.Trp470Ser)
c.1382G>C (p.Trp461Ser)
c.1733G>C (p.Trp578Ser)
2g.162435443C>TCA349221192KCNH7c.1709G>A (p.Trp570Ter)
c.1688G>A (p.Trp563Ter)
c.1409G>A (p.Trp470Ter)
c.1382G>A (p.Trp461Ter)
c.1733G>A (p.Trp578Ter)
2g.162435444A>CCA349221193KCNH7c.1708T>G (p.Trp570Gly)
c.1687T>G (p.Trp563Gly)
c.1408T>G (p.Trp470Gly)
c.1381T>G (p.Trp461Gly)
c.1732T>G (p.Trp578Gly)
2g.162435444A>GCA349221194KCNH7c.1708T>C (p.Trp570Arg)
c.1687T>C (p.Trp563Arg)
c.1408T>C (p.Trp470Arg)
c.1381T>C (p.Trp461Arg)
c.1732T>C (p.Trp578Arg)
2g.162435444A>TCA349221195KCNH7c.1708T>A (p.Trp570Arg)
c.1687T>A (p.Trp563Arg)
c.1408T>A (p.Trp470Arg)
c.1381T>A (p.Trp461Arg)
c.1732T>A (p.Trp578Arg)
2g.162435445A>CCA349221196KCNH7c.1707T>G (p.Ile569Met)
c.1686T>G (p.Ile562Met)
c.1407T>G (p.Ile469Met)
c.1380T>G (p.Ile460Met)
c.1731T>G (p.Ile577Met)
2g.162435445A>GCA429731849KCNH7c.1707T>C (p.Ile569=)
c.1686T>C (p.Ile562=)
c.1407T>C (p.Ile469=)
c.1380T>C (p.Ile460=)
c.1731T>C (p.Ile577=)
2g.162435445A>TCA429731848KCNH7c.1707T>A (p.Ile569=)
c.1686T>A (p.Ile562=)
c.1407T>A (p.Ile469=)
c.1380T>A (p.Ile460=)
c.1731T>A (p.Ile577=)
2g.162435446A>CCA349221197KCNH7c.1706T>G (p.Ile569Ser)
c.1685T>G (p.Ile562Ser)
c.1406T>G (p.Ile469Ser)
c.1379T>G (p.Ile460Ser)
c.1730T>G (p.Ile577Ser)
2g.162435446A>GCA349221198KCNH7c.1706T>C (p.Ile569Thr)
c.1685T>C (p.Ile562Thr)
c.1406T>C (p.Ile469Thr)
c.1379T>C (p.Ile460Thr)
c.1730T>C (p.Ile577Thr)
2g.162435446A>TCA349221199KCNH7c.1706T>A (p.Ile569Asn)
c.1685T>A (p.Ile562Asn)
c.1406T>A (p.Ile469Asn)
c.1379T>A (p.Ile460Asn)
c.1730T>A (p.Ile577Asn)
2g.162435447T>ACA349221201KCNH7c.1705A>T (p.Ile569Phe)
c.1684A>T (p.Ile562Phe)
c.1405A>T (p.Ile469Phe)
c.1378A>T (p.Ile460Phe)
c.1729A>T (p.Ile577Phe)
2g.162435447T>CCA349221202KCNH7c.1705A>G (p.Ile569Val)
c.1684A>G (p.Ile562Val)
c.1405A>G (p.Ile469Val)
c.1378A>G (p.Ile460Val)
c.1729A>G (p.Ile577Val)
2g.162435447T>GCA349221200KCNH7c.1705A>C (p.Ile569Leu)
c.1684A>C (p.Ile562Leu)
c.1405A>C (p.Ile469Leu)
c.1378A>C (p.Ile460Leu)
c.1729A>C (p.Ile577Leu)
2g.162435448G>ACA429731851KCNH7c.1704C>T (p.Cys568=)
c.1683C>T (p.Cys561=)
c.1404C>T (p.Cys468=)
c.1377C>T (p.Cys459=)
c.1728C>T (p.Cys576=)
gnomAD v4
2g.162435448G>CCA349221203KCNH7c.1704C>G (p.Cys568Trp)
c.1683C>G (p.Cys561Trp)
c.1404C>G (p.Cys468Trp)
c.1377C>G (p.Cys459Trp)
c.1728C>G (p.Cys576Trp)
2g.162435448G>TCA349221204KCNH7c.1704C>A (p.Cys568Ter)
c.1683C>A (p.Cys561Ter)
c.1404C>A (p.Cys468Ter)
c.1377C>A (p.Cys459Ter)
c.1728C>A (p.Cys576Ter)
2g.162435449C>ACA349221205KCNH7c.1703G>T (p.Cys568Phe)
c.1682G>T (p.Cys561Phe)
c.1403G>T (p.Cys468Phe)
c.1376G>T (p.Cys459Phe)
c.1727G>T (p.Cys576Phe)
2g.162435449C>GCA349221206KCNH7c.1703G>C (p.Cys568Ser)
c.1682G>C (p.Cys561Ser)
c.1403G>C (p.Cys468Ser)
c.1376G>C (p.Cys459Ser)
c.1727G>C (p.Cys576Ser)
2g.162435449C>TCA349221207KCNH7c.1703G>A (p.Cys568Tyr)
c.1682G>A (p.Cys561Tyr)
c.1403G>A (p.Cys468Tyr)
c.1376G>A (p.Cys459Tyr)
c.1727G>A (p.Cys576Tyr)
2g.162435450A>CCA349221210KCNH7c.1702T>G (p.Cys568Gly)
c.1681T>G (p.Cys561Gly)
c.1402T>G (p.Cys468Gly)
c.1375T>G (p.Cys459Gly)
c.1726T>G (p.Cys576Gly)
2g.162435450A>GCA349221208KCNH7c.1702T>C (p.Cys568Arg)
c.1681T>C (p.Cys561Arg)
c.1402T>C (p.Cys468Arg)
c.1375T>C (p.Cys459Arg)
c.1726T>C (p.Cys576Arg)
2g.162435450A>TCA349221209KCNH7c.1702T>A (p.Cys568Ser)
c.1681T>A (p.Cys561Ser)
c.1402T>A (p.Cys468Ser)
c.1375T>A (p.Cys459Ser)
c.1726T>A (p.Cys576Ser)
2g.162435451A>CCA429731856KCNH7c.1701T>G (p.Ala567=)
c.1680T>G (p.Ala560=)
c.1401T>G (p.Ala467=)
c.1374T>G (p.Ala458=)
c.1725T>G (p.Ala575=)
2g.162435451A>GCA429731857KCNH7c.1701T>C (p.Ala567=)
c.1680T>C (p.Ala560=)
c.1401T>C (p.Ala467=)
c.1374T>C (p.Ala458=)
c.1725T>C (p.Ala575=)
2g.162435451A>TCA429731858KCNH7c.1701T>A (p.Ala567=)
c.1680T>A (p.Ala560=)
c.1401T>A (p.Ala467=)
c.1374T>A (p.Ala458=)
c.1725T>A (p.Ala575=)
2g.162435452G>ACA349221211KCNH7c.1700C>T (p.Ala567Val)
c.1679C>T (p.Ala560Val)
c.1400C>T (p.Ala467Val)
c.1373C>T (p.Ala458Val)
c.1724C>T (p.Ala575Val)
2g.162435452G>CCA349221212KCNH7c.1700C>G (p.Ala567Gly)
c.1679C>G (p.Ala560Gly)
c.1400C>G (p.Ala467Gly)
c.1373C>G (p.Ala458Gly)
c.1724C>G (p.Ala575Gly)
2g.162435452G>TCA349221213KCNH7c.1700C>A (p.Ala567Asp)
c.1679C>A (p.Ala560Asp)
c.1400C>A (p.Ala467Asp)
c.1373C>A (p.Ala458Asp)
c.1724C>A (p.Ala575Asp)
2g.162435453C>ACA349221214KCNH7c.1699G>T (p.Ala567Ser)
c.1678G>T (p.Ala560Ser)
c.1399G>T (p.Ala467Ser)
c.1372G>T (p.Ala458Ser)
c.1723G>T (p.Ala575Ser)
2g.162435453C>GCA349221215KCNH7c.1699G>C (p.Ala567Pro)
c.1678G>C (p.Ala560Pro)
c.1399G>C (p.Ala467Pro)
c.1372G>C (p.Ala458Pro)
c.1723G>C (p.Ala575Pro)
2g.162435453C>TCA349221216KCNH7c.1699G>A (p.Ala567Thr)
c.1678G>A (p.Ala560Thr)
c.1399G>A (p.Ala467Thr)
c.1372G>A (p.Ala458Thr)
c.1723G>A (p.Ala575Thr)
2g.162435454C>ACA429731861KCNH7c.1698G>T (p.Leu566=)
c.1677G>T (p.Leu559=)
c.1398G>T (p.Leu466=)
c.1371G>T (p.Leu457=)
c.1722G>T (p.Leu574=)
2g.162435454C>GCA429731863KCNH7c.1698G>C (p.Leu566=)
c.1677G>C (p.Leu559=)
c.1398G>C (p.Leu466=)
c.1371G>C (p.Leu457=)
c.1722G>C (p.Leu574=)
2g.162435454C>TCA429731864KCNH7c.1698G>A (p.Leu566=)
c.1677G>A (p.Leu559=)
c.1398G>A (p.Leu466=)
c.1371G>A (p.Leu457=)
c.1722G>A (p.Leu574=)
2g.162435455A>CCA349221219KCNH7c.1697T>G (p.Leu566Arg)
c.1676T>G (p.Leu559Arg)
c.1397T>G (p.Leu466Arg)
c.1370T>G (p.Leu457Arg)
c.1721T>G (p.Leu574Arg)
2g.162435455A>GCA349221218KCNH7c.1697T>C (p.Leu566Pro)
c.1676T>C (p.Leu559Pro)
c.1397T>C (p.Leu466Pro)
c.1370T>C (p.Leu457Pro)
c.1721T>C (p.Leu574Pro)
2g.162435455A>TCA349221217KCNH7c.1697T>A (p.Leu566Gln)
c.1676T>A (p.Leu559Gln)
c.1397T>A (p.Leu466Gln)
c.1370T>A (p.Leu457Gln)
c.1721T>A (p.Leu574Gln)
2g.162435456G>ACA429731866KCNH7c.1696C>T (p.Leu566=)
c.1675C>T (p.Leu559=)
c.1396C>T (p.Leu466=)
c.1369C>T (p.Leu457=)
c.1720C>T (p.Leu574=)
gnomAD v4
2g.162435456G>CCA349221220KCNH7c.1696C>G (p.Leu566Val)
c.1675C>G (p.Leu559Val)
c.1396C>G (p.Leu466Val)
c.1369C>G (p.Leu457Val)
c.1720C>G (p.Leu574Val)
2g.162435456G>TCA349221221KCNH7c.1696C>A (p.Leu566Met)
c.1675C>A (p.Leu559Met)
c.1396C>A (p.Leu466Met)
c.1369C>A (p.Leu457Met)
c.1720C>A (p.Leu574Met)
2g.162435457C>ACA349221222KCNH7c.1695G>T (p.Trp565Cys)
c.1674G>T (p.Trp558Cys)
c.1395G>T (p.Trp465Cys)
c.1368G>T (p.Trp456Cys)
c.1719G>T (p.Trp573Cys)
2g.162435457C>GCA349221223KCNH7c.1695G>C (p.Trp565Cys)
c.1674G>C (p.Trp558Cys)
c.1395G>C (p.Trp465Cys)
c.1368G>C (p.Trp456Cys)
c.1719G>C (p.Trp573Cys)
2g.162435457C>TCA349221224KCNH7c.1695G>A (p.Trp565Ter)
c.1674G>A (p.Trp558Ter)
c.1395G>A (p.Trp465Ter)
c.1368G>A (p.Trp456Ter)
c.1719G>A (p.Trp573Ter)
2g.162435458C>ACA349221225KCNH7c.1694G>T (p.Trp565Leu)
c.1673G>T (p.Trp558Leu)
c.1394G>T (p.Trp465Leu)
c.1367G>T (p.Trp456Leu)
c.1718G>T (p.Trp573Leu)
2g.162435458C>GCA349221226KCNH7c.1694G>C (p.Trp565Ser)
c.1673G>C (p.Trp558Ser)
c.1394G>C (p.Trp465Ser)
c.1367G>C (p.Trp456Ser)
c.1718G>C (p.Trp573Ser)
2g.162435458C>TCA349221227KCNH7c.1694G>A (p.Trp565Ter)
c.1673G>A (p.Trp558Ter)
c.1394G>A (p.Trp465Ter)
c.1367G>A (p.Trp456Ter)
c.1718G>A (p.Trp573Ter)
2g.162435459A>CCA349221228KCNH7c.1693T>G (p.Trp565Gly)
c.1672T>G (p.Trp558Gly)
c.1393T>G (p.Trp465Gly)
c.1366T>G (p.Trp456Gly)
c.1717T>G (p.Trp573Gly)
2g.162435459A>GCA349221229KCNH7c.1693T>C (p.Trp565Arg)
c.1672T>C (p.Trp558Arg)
c.1393T>C (p.Trp465Arg)
c.1366T>C (p.Trp456Arg)
c.1717T>C (p.Trp573Arg)
2g.162435459A>TCA349221230KCNH7c.1693T>A (p.Trp565Arg)
c.1672T>A (p.Trp558Arg)
c.1393T>A (p.Trp465Arg)
c.1366T>A (p.Trp456Arg)
c.1717T>A (p.Trp573Arg)
2g.162435459_162435523delCA2752941700KCNH7c.1629_1693del (p.Tyr544AlafsTer18)
c.1608_1672del (p.Tyr537AlafsTer18)
c.1329_1393del (p.Tyr444AlafsTer18)
c.1302_1366del (p.Tyr435AlafsTer18)
c.1653_1717del (p.Tyr552AlafsTer18)
2g.162435460G>ACA429694436KCNH7c.1692C>T (p.His564=)
c.1671C>T (p.His557=)
c.1392C>T (p.His464=)
c.1365C>T (p.His455=)
c.1716C>T (p.His572=)
2g.162435460G>CCA349221231KCNH7c.1692C>G (p.His564Gln)
c.1671C>G (p.His557Gln)
c.1392C>G (p.His464Gln)
c.1365C>G (p.His455Gln)
c.1716C>G (p.His572Gln)
2g.162435460G>TCA349221232KCNH7c.1692C>A (p.His564Gln)
c.1671C>A (p.His557Gln)
c.1392C>A (p.His464Gln)
c.1365C>A (p.His455Gln)
c.1716C>A (p.His572Gln)
COSMIC COSMIC
2g.162435461T>ACA349221235KCNH7c.1691A>T (p.His564Leu)
c.1670A>T (p.His557Leu)
c.1391A>T (p.His464Leu)
c.1364A>T (p.His455Leu)
c.1715A>T (p.His572Leu)
2g.162435461T>CCA349221234KCNH7c.1691A>G (p.His564Arg)
c.1670A>G (p.His557Arg)
c.1391A>G (p.His464Arg)
c.1364A>G (p.His455Arg)
c.1715A>G (p.His572Arg)
2g.162435461T>GCA349221233KCNH7c.1691A>C (p.His564Pro)
c.1670A>C (p.His557Pro)
c.1391A>C (p.His464Pro)
c.1364A>C (p.His455Pro)
c.1715A>C (p.His572Pro)
2g.162435462G>ACA349221236KCNH7c.1690C>T (p.His564Tyr)
c.1669C>T (p.His557Tyr)
c.1390C>T (p.His464Tyr)
c.1363C>T (p.His455Tyr)
c.1714C>T (p.His572Tyr)
2g.162435462G>CCA349221237KCNH7c.1690C>G (p.His564Asp)
c.1669C>G (p.His557Asp)
c.1390C>G (p.His464Asp)
c.1363C>G (p.His455Asp)
c.1714C>G (p.His572Asp)
2g.162435462G>TCA349221238KCNH7c.1690C>A (p.His564Asn)
c.1669C>A (p.His557Asn)
c.1390C>A (p.His464Asn)
c.1363C>A (p.His455Asn)
c.1714C>A (p.His572Asn)
2g.162435463A>CCA429694447KCNH7c.1689T>G (p.Ala563=)
c.1668T>G (p.Ala556=)
c.1389T>G (p.Ala463=)
c.1362T>G (p.Ala454=)
c.1713T>G (p.Ala571=)
2g.162435463A>GCA429694449KCNH7c.1689T>C (p.Ala563=)
c.1668T>C (p.Ala556=)
c.1389T>C (p.Ala463=)
c.1362T>C (p.Ala454=)
c.1713T>C (p.Ala571=)
gnomAD v4
2g.162435463A>TCA429694451KCNH7c.1689T>A (p.Ala563=)
c.1668T>A (p.Ala556=)
c.1389T>A (p.Ala463=)
c.1362T>A (p.Ala454=)
c.1713T>A (p.Ala571=)
2g.162435464G>ACA349221239KCNH7c.1688C>T (p.Ala563Val)
c.1667C>T (p.Ala556Val)
c.1388C>T (p.Ala463Val)
c.1361C>T (p.Ala454Val)
c.1712C>T (p.Ala571Val)
2g.162435464G>CCA349221240KCNH7c.1688C>G (p.Ala563Gly)
c.1667C>G (p.Ala556Gly)
c.1388C>G (p.Ala463Gly)
c.1361C>G (p.Ala454Gly)
c.1712C>G (p.Ala571Gly)
2g.162435464G>TCA349221241KCNH7c.1688C>A (p.Ala563Asp)
c.1667C>A (p.Ala556Asp)
c.1388C>A (p.Ala463Asp)
c.1361C>A (p.Ala454Asp)
c.1712C>A (p.Ala571Asp)
COSMIC COSMIC
2g.162435465C>ACA349221242KCNH7c.1687G>T (p.Ala563Ser)
c.1666G>T (p.Ala556Ser)
c.1387G>T (p.Ala463Ser)
c.1360G>T (p.Ala454Ser)
c.1711G>T (p.Ala571Ser)
2g.162435465C>GCA349221243KCNH7c.1687G>C (p.Ala563Pro)
c.1666G>C (p.Ala556Pro)
c.1387G>C (p.Ala463Pro)
c.1360G>C (p.Ala454Pro)
c.1711G>C (p.Ala571Pro)
2g.162435465C>TCA349221244KCNH7c.1687G>A (p.Ala563Thr)
c.1666G>A (p.Ala556Thr)
c.1387G>A (p.Ala463Thr)
c.1360G>A (p.Ala454Thr)
c.1711G>A (p.Ala571Thr)
2g.162435466A>CCA349221245KCNH7c.1686T>G (p.Ile562Met)
c.1665T>G (p.Ile555Met)
c.1386T>G (p.Ile462Met)
c.1359T>G (p.Ile453Met)
c.1710T>G (p.Ile570Met)
2g.162435466A>GCA429694461KCNH7c.1686T>C (p.Ile562=)
c.1665T>C (p.Ile555=)
c.1386T>C (p.Ile462=)
c.1359T>C (p.Ile453=)
c.1710T>C (p.Ile570=)
2g.162435466A>TCA429694459KCNH7c.1686T>A (p.Ile562=)
c.1665T>A (p.Ile555=)
c.1386T>A (p.Ile462=)
c.1359T>A (p.Ile453=)
c.1710T>A (p.Ile570=)
2g.162435467A>CCA349221246KCNH7c.1685T>G (p.Ile562Ser)
c.1664T>G (p.Ile555Ser)
c.1385T>G (p.Ile462Ser)
c.1358T>G (p.Ile453Ser)
c.1709T>G (p.Ile570Ser)
2g.162435467A>GCA349221247KCNH7c.1685T>C (p.Ile562Thr)
c.1664T>C (p.Ile555Thr)
c.1385T>C (p.Ile462Thr)
c.1358T>C (p.Ile453Thr)
c.1709T>C (p.Ile570Thr)
2g.162435467A>TCA349221248KCNH7c.1685T>A (p.Ile562Asn)
c.1664T>A (p.Ile555Asn)
c.1385T>A (p.Ile462Asn)
c.1358T>A (p.Ile453Asn)
c.1709T>A (p.Ile570Asn)
2g.162435468T>ACA349221251KCNH7c.1684A>T (p.Ile562Phe)
c.1663A>T (p.Ile555Phe)
c.1384A>T (p.Ile462Phe)
c.1357A>T (p.Ile453Phe)
c.1708A>T (p.Ile570Phe)
2g.162435468T>CCA349221250KCNH7c.1684A>G (p.Ile562Val)
c.1663A>G (p.Ile555Val)
c.1384A>G (p.Ile462Val)
c.1357A>G (p.Ile453Val)
c.1708A>G (p.Ile570Val)
2g.162435468T>GCA349221249KCNH7c.1684A>C (p.Ile562Leu)
c.1663A>C (p.Ile555Leu)
c.1384A>C (p.Ile462Leu)
c.1357A>C (p.Ile453Leu)
c.1708A>C (p.Ile570Leu)
2g.162435469C>ACA429694470KCNH7c.1683G>T (p.Leu561=)
c.1662G>T (p.Leu554=)
c.1383G>T (p.Leu461=)
c.1356G>T (p.Leu452=)
c.1707G>T (p.Leu569=)
2g.162435469C>GCA429694472KCNH7c.1683G>C (p.Leu561=)
c.1662G>C (p.Leu554=)
c.1383G>C (p.Leu461=)
c.1356G>C (p.Leu452=)
c.1707G>C (p.Leu569=)
gnomAD v3 gnomAD v4
2g.162435469C>TCA429694474KCNH7c.1683G>A (p.Leu561=)
c.1662G>A (p.Leu554=)
c.1383G>A (p.Leu461=)
c.1356G>A (p.Leu452=)
c.1707G>A (p.Leu569=)
gnomAD v4
2g.162435470A>CCA349221254KCNH7c.1682T>G (p.Leu561Arg)
c.1661T>G (p.Leu554Arg)
c.1382T>G (p.Leu461Arg)
c.1355T>G (p.Leu452Arg)
c.1706T>G (p.Leu569Arg)
2g.162435470A>GCA349221252KCNH7c.1682T>C (p.Leu561Pro)
c.1661T>C (p.Leu554Pro)
c.1382T>C (p.Leu461Pro)
c.1355T>C (p.Leu452Pro)
c.1706T>C (p.Leu569Pro)
2g.162435470A>TCA349221253KCNH7c.1682T>A (p.Leu561Gln)
c.1661T>A (p.Leu554Gln)
c.1382T>A (p.Leu461Gln)
c.1355T>A (p.Leu452Gln)
c.1706T>A (p.Leu569Gln)
2g.162435471G>ACA1935642KCNH7c.1681C>T (p.Leu561=)
c.1660C>T (p.Leu554=)
c.1381C>T (p.Leu461=)
c.1354C>T (p.Leu452=)
c.1705C>T (p.Leu569=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.162435471G>CCA349221255KCNH7c.1681C>G (p.Leu561Val)
c.1660C>G (p.Leu554Val)
c.1381C>G (p.Leu461Val)
c.1354C>G (p.Leu452Val)
c.1705C>G (p.Leu569Val)
2g.162435471G=CA1303221352KCNH7c.1681C= (p.Leu561=)
c.1660C= (p.Leu554=)
c.1381C= (p.Leu461=)
c.1354C= (p.Leu452=)
c.1705C= (p.Leu569=)
2g.162435471G>TCA349221256KCNH7c.1681C>A (p.Leu561Met)
c.1660C>A (p.Leu554Met)
c.1381C>A (p.Leu461Met)
c.1354C>A (p.Leu452Met)
c.1705C>A (p.Leu569Met)
2g.162435472G>ACA429694482KCNH7c.1680C>T (p.Ala560=)
c.1659C>T (p.Ala553=)
c.1380C>T (p.Ala460=)
c.1353C>T (p.Ala451=)
c.1704C>T (p.Ala568=)
2g.162435472G>CCA429694483KCNH7c.1680C>G (p.Ala560=)
c.1659C>G (p.Ala553=)
c.1380C>G (p.Ala460=)
c.1353C>G (p.Ala451=)
c.1704C>G (p.Ala568=)
2g.162435472G>TCA429694485KCNH7c.1680C>A (p.Ala560=)
c.1659C>A (p.Ala553=)
c.1380C>A (p.Ala460=)
c.1353C>A (p.Ala451=)
c.1704C>A (p.Ala568=)
2g.162435473G>ACA349221257KCNH7c.1679C>T (p.Ala560Val)
c.1658C>T (p.Ala553Val)
c.1379C>T (p.Ala460Val)
c.1352C>T (p.Ala451Val)
c.1703C>T (p.Ala568Val)
2g.162435473G>CCA349221258KCNH7c.1679C>G (p.Ala560Gly)
c.1658C>G (p.Ala553Gly)
c.1379C>G (p.Ala460Gly)
c.1352C>G (p.Ala451Gly)
c.1703C>G (p.Ala568Gly)
2g.162435473G>TCA349221259KCNH7c.1679C>A (p.Ala560Asp)
c.1658C>A (p.Ala553Asp)
c.1379C>A (p.Ala460Asp)
c.1352C>A (p.Ala451Asp)
c.1703C>A (p.Ala568Asp)
2g.162435474C>ACA349221260KCNH7c.1678G>T (p.Ala560Ser)
c.1657G>T (p.Ala553Ser)
c.1378G>T (p.Ala460Ser)
c.1351G>T (p.Ala451Ser)
c.1702G>T (p.Ala568Ser)
COSMIC COSMIC
2g.162435474C>GCA349221261KCNH7c.1678G>C (p.Ala560Pro)
c.1657G>C (p.Ala553Pro)
c.1378G>C (p.Ala460Pro)
c.1351G>C (p.Ala451Pro)
c.1702G>C (p.Ala568Pro)
2g.162435474C>TCA349221262KCNH7c.1678G>A (p.Ala560Thr)
c.1657G>A (p.Ala553Thr)
c.1378G>A (p.Ala460Thr)
c.1351G>A (p.Ala451Thr)
c.1702G>A (p.Ala568Thr)
2g.162435475A>CCA349221263KCNH7c.1677T>G (p.Phe559Leu)
c.1656T>G (p.Phe552Leu)
c.1377T>G (p.Phe459Leu)
c.1350T>G (p.Phe450Leu)
c.1701T>G (p.Phe567Leu)
2g.162435475A>GCA429694495KCNH7c.1677T>C (p.Phe559=)
c.1656T>C (p.Phe552=)
c.1377T>C (p.Phe459=)
c.1350T>C (p.Phe450=)
c.1701T>C (p.Phe567=)
gnomAD v4
2g.162435475A>TCA349221264KCNH7c.1677T>A (p.Phe559Leu)
c.1656T>A (p.Phe552Leu)
c.1377T>A (p.Phe459Leu)
c.1350T>A (p.Phe450Leu)
c.1701T>A (p.Phe567Leu)
2g.162435476A>CCA349221267KCNH7c.1676T>G (p.Phe559Cys)
c.1655T>G (p.Phe552Cys)
c.1376T>G (p.Phe459Cys)
c.1349T>G (p.Phe450Cys)
c.1700T>G (p.Phe567Cys)
2g.162435476A>GCA349221265KCNH7c.1676T>C (p.Phe559Ser)
c.1655T>C (p.Phe552Ser)
c.1376T>C (p.Phe459Ser)
c.1349T>C (p.Phe450Ser)
c.1700T>C (p.Phe567Ser)
2g.162435476A>TCA349221266KCNH7c.1676T>A (p.Phe559Tyr)
c.1655T>A (p.Phe552Tyr)
c.1376T>A (p.Phe459Tyr)
c.1349T>A (p.Phe450Tyr)
c.1700T>A (p.Phe567Tyr)
2g.162435477A>CCA349221268KCNH7c.1675T>G (p.Phe559Val)
c.1654T>G (p.Phe552Val)
c.1375T>G (p.Phe459Val)
c.1348T>G (p.Phe450Val)
c.1699T>G (p.Phe567Val)
2g.162435477A>GCA349221269KCNH7c.1675T>C (p.Phe559Leu)
c.1654T>C (p.Phe552Leu)
c.1375T>C (p.Phe459Leu)
c.1348T>C (p.Phe450Leu)
c.1699T>C (p.Phe567Leu)
2g.162435477A>TCA349221270KCNH7c.1675T>A (p.Phe559Ile)
c.1654T>A (p.Phe552Ile)
c.1375T>A (p.Phe459Ile)
c.1348T>A (p.Phe450Ile)
c.1699T>A (p.Phe567Ile)
2g.162435478G>ACA429694505KCNH7c.1674C>T (p.Ile558=)
c.1653C>T (p.Ile551=)
c.1374C>T (p.Ile458=)
c.1347C>T (p.Ile449=)
c.1698C>T (p.Ile566=)
2g.162435478G>CCA349221271KCNH7c.1674C>G (p.Ile558Met)
c.1653C>G (p.Ile551Met)
c.1374C>G (p.Ile458Met)
c.1347C>G (p.Ile449Met)
c.1698C>G (p.Ile566Met)
2g.162435478G>TCA429694508KCNH7c.1674C>A (p.Ile558=)
c.1653C>A (p.Ile551=)
c.1374C>A (p.Ile458=)
c.1347C>A (p.Ile449=)
c.1698C>A (p.Ile566=)
2g.162435479A>CCA349221272KCNH7c.1673T>G (p.Ile558Ser)
c.1652T>G (p.Ile551Ser)
c.1373T>G (p.Ile458Ser)
c.1346T>G (p.Ile449Ser)
c.1697T>G (p.Ile566Ser)
2g.162435479A>GCA349221273KCNH7c.1673T>C (p.Ile558Thr)
c.1652T>C (p.Ile551Thr)
c.1373T>C (p.Ile458Thr)
c.1346T>C (p.Ile449Thr)
c.1697T>C (p.Ile566Thr)
2g.162435479A>TCA349221274KCNH7c.1673T>A (p.Ile558Asn)
c.1652T>A (p.Ile551Asn)
c.1373T>A (p.Ile458Asn)
c.1346T>A (p.Ile449Asn)
c.1697T>A (p.Ile566Asn)

Number of alleles fetched