Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.162435359C>A | CA349220999 | KCNH7 | c.1793G>T (p.Arg598Leu) c.1772G>T (p.Arg591Leu) c.1493G>T (p.Arg498Leu) c.1466G>T (p.Arg489Leu) c.1817G>T (p.Arg606Leu) | |
2 | g.162435359C>G | CA349221000 | KCNH7 | c.1793G>C (p.Arg598Pro) c.1772G>C (p.Arg591Pro) c.1493G>C (p.Arg498Pro) c.1466G>C (p.Arg489Pro) c.1817G>C (p.Arg606Pro) | |
2 | g.162435359C>T | CA349221001 | KCNH7 | c.1793G>A (p.Arg598His) c.1772G>A (p.Arg591His) c.1493G>A (p.Arg498His) c.1466G>A (p.Arg489His) c.1817G>A (p.Arg606His) | gnomAD v4 |
2 | g.162435360G>A | CA349221002 | KCNH7 | c.1792C>T (p.Arg598Cys) c.1771C>T (p.Arg591Cys) c.1492C>T (p.Arg498Cys) c.1465C>T (p.Arg489Cys) c.1816C>T (p.Arg606Cys) | COSMIC COSMIC |
2 | g.162435360G>C | CA349221003 | KCNH7 | c.1792C>G (p.Arg598Gly) c.1771C>G (p.Arg591Gly) c.1492C>G (p.Arg498Gly) c.1465C>G (p.Arg489Gly) c.1816C>G (p.Arg606Gly) | |
2 | g.162435360G= | CA1303221312 | KCNH7 | c.1792C= (p.Arg598=) c.1771C= (p.Arg591=) c.1492C= (p.Arg498=) c.1465C= (p.Arg489=) c.1816C= (p.Arg606=) | |
2 | g.162435360G>T | CA349221004 | KCNH7 | c.1792C>A (p.Arg598Ser) c.1771C>A (p.Arg591Ser) c.1492C>A (p.Arg498Ser) c.1465C>A (p.Arg489Ser) c.1816C>A (p.Arg606Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.162435361T>A | CA349221005 | KCNH7 | c.1791A>T (p.Lys597Asn) c.1770A>T (p.Lys590Asn) c.1491A>T (p.Lys497Asn) c.1464A>T (p.Lys488Asn) c.1815A>T (p.Lys605Asn) | |
2 | g.162435361T>C | CA429731729 | KCNH7 | c.1791A>G (p.Lys597=) c.1770A>G (p.Lys590=) c.1491A>G (p.Lys497=) c.1464A>G (p.Lys488=) c.1815A>G (p.Lys605=) | |
2 | g.162435361T>G | CA349221006 | KCNH7 | c.1791A>C (p.Lys597Asn) c.1770A>C (p.Lys590Asn) c.1491A>C (p.Lys497Asn) c.1464A>C (p.Lys488Asn) c.1815A>C (p.Lys605Asn) | |
2 | g.162435362T>A | CA349221008 | KCNH7 | c.1790A>T (p.Lys597Ile) c.1769A>T (p.Lys590Ile) c.1490A>T (p.Lys497Ile) c.1463A>T (p.Lys488Ile) c.1814A>T (p.Lys605Ile) | |
2 | g.162435362T>C | CA349221009 | KCNH7 | c.1790A>G (p.Lys597Arg) c.1769A>G (p.Lys590Arg) c.1490A>G (p.Lys497Arg) c.1463A>G (p.Lys488Arg) c.1814A>G (p.Lys605Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.162435362T>G | CA349221007 | KCNH7 | c.1790A>C (p.Lys597Thr) c.1769A>C (p.Lys590Thr) c.1490A>C (p.Lys497Thr) c.1463A>C (p.Lys488Thr) c.1814A>C (p.Lys605Thr) | |
2 | g.162435362T= | CA1303221314 | KCNH7 | c.1790A= (p.Lys597=) c.1769A= (p.Lys590=) c.1490A= (p.Lys497=) c.1463A= (p.Lys488=) c.1814A= (p.Lys605=) | |
2 | g.162435363T>A | CA349221010 | KCNH7 | c.1789A>T (p.Lys597Ter) c.1768A>T (p.Lys590Ter) c.1489A>T (p.Lys497Ter) c.1462A>T (p.Lys488Ter) c.1813A>T (p.Lys605Ter) | |
2 | g.162435363T>C | CA349221011 | KCNH7 | c.1789A>G (p.Lys597Glu) c.1768A>G (p.Lys590Glu) c.1489A>G (p.Lys497Glu) c.1462A>G (p.Lys488Glu) c.1813A>G (p.Lys605Glu) | |
2 | g.162435363T>G | CA349221012 | KCNH7 | c.1789A>C (p.Lys597Gln) c.1768A>C (p.Lys590Gln) c.1489A>C (p.Lys497Gln) c.1462A>C (p.Lys488Gln) c.1813A>C (p.Lys605Gln) | |
2 | g.162435364C>A | CA429731732 | KCNH7 | c.1788G>T (p.Gly596=) c.1767G>T (p.Gly589=) c.1488G>T (p.Gly496=) c.1461G>T (p.Gly487=) c.1812G>T (p.Gly604=) | |
2 | g.162435364C>G | CA429731733 | KCNH7 | c.1788G>C (p.Gly596=) c.1767G>C (p.Gly589=) c.1488G>C (p.Gly496=) c.1461G>C (p.Gly487=) c.1812G>C (p.Gly604=) | |
2 | g.162435364C>T | CA429731734 | KCNH7 | c.1788G>A (p.Gly596=) c.1767G>A (p.Gly589=) c.1488G>A (p.Gly496=) c.1461G>A (p.Gly487=) c.1812G>A (p.Gly604=) | |
2 | g.162435365C>A | CA349221013 | KCNH7 | c.1787G>T (p.Gly596Val) c.1766G>T (p.Gly589Val) c.1487G>T (p.Gly496Val) c.1460G>T (p.Gly487Val) c.1811G>T (p.Gly604Val) | |
2 | g.162435365C>G | CA349221014 | KCNH7 | c.1787G>C (p.Gly596Ala) c.1766G>C (p.Gly589Ala) c.1487G>C (p.Gly496Ala) c.1460G>C (p.Gly487Ala) c.1811G>C (p.Gly604Ala) | |
2 | g.162435365C>T | CA349221015 | KCNH7 | c.1787G>A (p.Gly596Glu) c.1766G>A (p.Gly589Glu) c.1487G>A (p.Gly496Glu) c.1460G>A (p.Gly487Glu) c.1811G>A (p.Gly604Glu) | COSMIC |
2 | g.162435366C>A | CA349221016 | KCNH7 | c.1786G>T (p.Gly596Trp) c.1765G>T (p.Gly589Trp) c.1486G>T (p.Gly496Trp) c.1459G>T (p.Gly487Trp) c.1810G>T (p.Gly604Trp) | gnomAD v4 |
2 | g.162435366C>G | CA349221017 | KCNH7 | c.1786G>C (p.Gly596Arg) c.1765G>C (p.Gly589Arg) c.1486G>C (p.Gly496Arg) c.1459G>C (p.Gly487Arg) c.1810G>C (p.Gly604Arg) | |
2 | g.162435366C>T | CA349221018 | KCNH7 | c.1786G>A (p.Gly596Arg) c.1765G>A (p.Gly589Arg) c.1486G>A (p.Gly496Arg) c.1459G>A (p.Gly487Arg) c.1810G>A (p.Gly604Arg) | |
2 | g.162435367A>C | CA349221019 | KCNH7 | c.1785T>G (p.Ile595Met) c.1764T>G (p.Ile588Met) c.1485T>G (p.Ile495Met) c.1458T>G (p.Ile486Met) c.1809T>G (p.Ile603Met) | |
2 | g.162435367A>G | CA429731738 | KCNH7 | c.1785T>C (p.Ile595=) c.1764T>C (p.Ile588=) c.1485T>C (p.Ile495=) c.1458T>C (p.Ile486=) c.1809T>C (p.Ile603=) | |
2 | g.162435367A>T | CA429731737 | KCNH7 | c.1785T>A (p.Ile595=) c.1764T>A (p.Ile588=) c.1485T>A (p.Ile495=) c.1458T>A (p.Ile486=) c.1809T>A (p.Ile603=) | |
2 | g.162435368A= | CA1303221318 | KCNH7 | c.1784T= (p.Ile595=) c.1763T= (p.Ile588=) c.1484T= (p.Ile495=) c.1457T= (p.Ile486=) c.1808T= (p.Ile603=) | |
2 | g.162435368A>C | CA349221020 | KCNH7 | c.1784T>G (p.Ile595Ser) c.1763T>G (p.Ile588Ser) c.1484T>G (p.Ile495Ser) c.1457T>G (p.Ile486Ser) c.1808T>G (p.Ile603Ser) | |
2 | g.162435368A>G | CA1935629 | KCNH7 | c.1784T>C (p.Ile595Thr) c.1763T>C (p.Ile588Thr) c.1484T>C (p.Ile495Thr) c.1457T>C (p.Ile486Thr) c.1808T>C (p.Ile603Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162435368A>T | CA349221021 | KCNH7 | c.1784T>A (p.Ile595Asn) c.1763T>A (p.Ile588Asn) c.1484T>A (p.Ile495Asn) c.1457T>A (p.Ile486Asn) c.1808T>A (p.Ile603Asn) | |
2 | g.162435369T>A | CA349221024 | KCNH7 | c.1783A>T (p.Ile595Phe) c.1762A>T (p.Ile588Phe) c.1483A>T (p.Ile495Phe) c.1456A>T (p.Ile486Phe) c.1807A>T (p.Ile603Phe) | gnomAD v4 |
2 | g.162435369T>C | CA349221023 | KCNH7 | c.1783A>G (p.Ile595Val) c.1762A>G (p.Ile588Val) c.1483A>G (p.Ile495Val) c.1456A>G (p.Ile486Val) c.1807A>G (p.Ile603Val) | |
2 | g.162435369T>G | CA349221022 | KCNH7 | c.1783A>C (p.Ile595Leu) c.1762A>C (p.Ile588Leu) c.1483A>C (p.Ile495Leu) c.1456A>C (p.Ile486Leu) c.1807A>C (p.Ile603Leu) | |
2 | g.162435370T>A | CA349221025 | KCNH7 | c.1782A>T (p.Gln594His) c.1761A>T (p.Gln587His) c.1482A>T (p.Gln494His) c.1455A>T (p.Gln485His) c.1806A>T (p.Gln602His) | |
2 | g.162435370T>C | CA429731740 | KCNH7 | c.1782A>G (p.Gln594=) c.1761A>G (p.Gln587=) c.1482A>G (p.Gln494=) c.1455A>G (p.Gln485=) c.1806A>G (p.Gln602=) | |
2 | g.162435370T>G | CA349221026 | KCNH7 | c.1782A>C (p.Gln594His) c.1761A>C (p.Gln587His) c.1482A>C (p.Gln494His) c.1455A>C (p.Gln485His) c.1806A>C (p.Gln602His) | |
2 | g.162435371T>A | CA349221027 | KCNH7 | c.1781A>T (p.Gln594Leu) c.1760A>T (p.Gln587Leu) c.1481A>T (p.Gln494Leu) c.1454A>T (p.Gln485Leu) c.1805A>T (p.Gln602Leu) | |
2 | g.162435371T>C | CA349221028 | KCNH7 | c.1781A>G (p.Gln594Arg) c.1760A>G (p.Gln587Arg) c.1481A>G (p.Gln494Arg) c.1454A>G (p.Gln485Arg) c.1805A>G (p.Gln602Arg) | |
2 | g.162435371T>G | CA349221029 | KCNH7 | c.1781A>C (p.Gln594Pro) c.1760A>C (p.Gln587Pro) c.1481A>C (p.Gln494Pro) c.1454A>C (p.Gln485Pro) c.1805A>C (p.Gln602Pro) | |
2 | g.162435372G>A | CA349221030 | KCNH7 | c.1780C>T (p.Gln594Ter) c.1759C>T (p.Gln587Ter) c.1480C>T (p.Gln494Ter) c.1453C>T (p.Gln485Ter) c.1804C>T (p.Gln602Ter) | |
2 | g.162435372G>C | CA349221031 | KCNH7 | c.1780C>G (p.Gln594Glu) c.1759C>G (p.Gln587Glu) c.1480C>G (p.Gln494Glu) c.1453C>G (p.Gln485Glu) c.1804C>G (p.Gln602Glu) | |
2 | g.162435372G>T | CA349221032 | KCNH7 | c.1780C>A (p.Gln594Lys) c.1759C>A (p.Gln587Lys) c.1480C>A (p.Gln494Lys) c.1453C>A (p.Gln485Lys) c.1804C>A (p.Gln602Lys) | |
2 | g.162435373C>A | CA349221033 | KCNH7 | c.1779G>T (p.Gln593His) c.1758G>T (p.Gln586His) c.1479G>T (p.Gln493His) c.1452G>T (p.Gln484His) c.1803G>T (p.Gln601His) | |
2 | g.162435373C>G | CA349221034 | KCNH7 | c.1779G>C (p.Gln593His) c.1758G>C (p.Gln586His) c.1479G>C (p.Gln493His) c.1452G>C (p.Gln484His) c.1803G>C (p.Gln601His) | |
2 | g.162435373C>T | CA429731744 | KCNH7 | c.1779G>A (p.Gln593=) c.1758G>A (p.Gln586=) c.1479G>A (p.Gln493=) c.1452G>A (p.Gln484=) c.1803G>A (p.Gln601=) | dbSNP gnomAD v4 |
2 | g.162435374T>A | CA349221035 | KCNH7 | c.1778A>T (p.Gln593Leu) c.1757A>T (p.Gln586Leu) c.1478A>T (p.Gln493Leu) c.1451A>T (p.Gln484Leu) c.1802A>T (p.Gln601Leu) | |
2 | g.162435374T>C | CA349221036 | KCNH7 | c.1778A>G (p.Gln593Arg) c.1757A>G (p.Gln586Arg) c.1478A>G (p.Gln493Arg) c.1451A>G (p.Gln484Arg) c.1802A>G (p.Gln601Arg) | |
2 | g.162435374T>G | CA349221037 | KCNH7 | c.1778A>C (p.Gln593Pro) c.1757A>C (p.Gln586Pro) c.1478A>C (p.Gln493Pro) c.1451A>C (p.Gln484Pro) c.1802A>C (p.Gln601Pro) | |
2 | g.162435375G>A | CA349221040 | KCNH7 | c.1777C>T (p.Gln593Ter) c.1756C>T (p.Gln586Ter) c.1477C>T (p.Gln493Ter) c.1450C>T (p.Gln484Ter) c.1801C>T (p.Gln601Ter) | |
2 | g.162435375G>C | CA349221039 | KCNH7 | c.1777C>G (p.Gln593Glu) c.1756C>G (p.Gln586Glu) c.1477C>G (p.Gln493Glu) c.1450C>G (p.Gln484Glu) c.1801C>G (p.Gln601Glu) | |
2 | g.162435375G>T | CA349221038 | KCNH7 | c.1777C>A (p.Gln593Lys) c.1756C>A (p.Gln586Lys) c.1477C>A (p.Gln493Lys) c.1450C>A (p.Gln484Lys) c.1801C>A (p.Gln601Lys) | |
2 | g.162435376T>A | CA429731748 | KCNH7 | c.1776A>T (p.Gly592=) c.1755A>T (p.Gly585=) c.1476A>T (p.Gly492=) c.1449A>T (p.Gly483=) c.1800A>T (p.Gly600=) | |
2 | g.162435376T>C | CA429731750 | KCNH7 | c.1776A>G (p.Gly592=) c.1755A>G (p.Gly585=) c.1476A>G (p.Gly492=) c.1449A>G (p.Gly483=) c.1800A>G (p.Gly600=) | |
2 | g.162435376T>G | CA429731751 | KCNH7 | c.1776A>C (p.Gly592=) c.1755A>C (p.Gly585=) c.1476A>C (p.Gly492=) c.1449A>C (p.Gly483=) c.1800A>C (p.Gly600=) | |
2 | g.162435377C>A | CA349221042 | KCNH7 | c.1775G>T (p.Gly592Val) c.1754G>T (p.Gly585Val) c.1475G>T (p.Gly492Val) c.1448G>T (p.Gly483Val) c.1799G>T (p.Gly600Val) | |
2 | g.162435377C>G | CA349221041 | KCNH7 | c.1775G>C (p.Gly592Ala) c.1754G>C (p.Gly585Ala) c.1475G>C (p.Gly492Ala) c.1448G>C (p.Gly483Ala) c.1799G>C (p.Gly600Ala) | |
2 | g.162435377C>T | CA349221043 | KCNH7 | c.1775G>A (p.Gly592Glu) c.1754G>A (p.Gly585Glu) c.1475G>A (p.Gly492Glu) c.1448G>A (p.Gly483Glu) c.1799G>A (p.Gly600Glu) | |
2 | g.162435378C>A | CA349221044 | KCNH7 | c.1774G>T (p.Gly592Ter) c.1753G>T (p.Gly585Ter) c.1474G>T (p.Gly492Ter) c.1447G>T (p.Gly483Ter) c.1798G>T (p.Gly600Ter) | |
2 | g.162435378C>G | CA349221046 | KCNH7 | c.1774G>C (p.Gly592Arg) c.1753G>C (p.Gly585Arg) c.1474G>C (p.Gly492Arg) c.1447G>C (p.Gly483Arg) c.1798G>C (p.Gly600Arg) | |
2 | g.162435378C>T | CA349221045 | KCNH7 | c.1774G>A (p.Gly592Arg) c.1753G>A (p.Gly585Arg) c.1474G>A (p.Gly492Arg) c.1447G>A (p.Gly483Arg) c.1798G>A (p.Gly600Arg) | |
2 | g.162435379T>A | CA349221047 | KCNH7 | c.1773A>T (p.Leu591Phe) c.1752A>T (p.Leu584Phe) c.1473A>T (p.Leu491Phe) c.1446A>T (p.Leu482Phe) c.1797A>T (p.Leu599Phe) | |
2 | g.162435379T>C | CA429731756 | KCNH7 | c.1773A>G (p.Leu591=) c.1752A>G (p.Leu584=) c.1473A>G (p.Leu491=) c.1446A>G (p.Leu482=) c.1797A>G (p.Leu599=) | |
2 | g.162435379T>G | CA349221048 | KCNH7 | c.1773A>C (p.Leu591Phe) c.1752A>C (p.Leu584Phe) c.1473A>C (p.Leu491Phe) c.1446A>C (p.Leu482Phe) c.1797A>C (p.Leu599Phe) | |
2 | g.162435380A>C | CA349221049 | KCNH7 | c.1772T>G (p.Leu591Ter) c.1751T>G (p.Leu584Ter) c.1472T>G (p.Leu491Ter) c.1445T>G (p.Leu482Ter) c.1796T>G (p.Leu599Ter) | |
2 | g.162435380A>G | CA349221050 | KCNH7 | c.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 |
2 | g.162435380A>T | CA349221051 | KCNH7 | c.1772T>A (p.Leu591Ter) c.1751T>A (p.Leu584Ter) c.1472T>A (p.Leu491Ter) c.1445T>A (p.Leu482Ter) c.1796T>A (p.Leu599Ter) | |
2 | g.162435381A>C | CA349221052 | KCNH7 | c.1771T>G (p.Leu591Val) c.1750T>G (p.Leu584Val) c.1471T>G (p.Leu491Val) c.1444T>G (p.Leu482Val) c.1795T>G (p.Leu599Val) | |
2 | g.162435381A>G | CA429731758 | KCNH7 | c.1771T>C (p.Leu591=) c.1750T>C (p.Leu584=) c.1471T>C (p.Leu491=) c.1444T>C (p.Leu482=) c.1795T>C (p.Leu599=) | |
2 | g.162435381A>T | CA349221053 | KCNH7 | c.1771T>A (p.Leu591Ile) c.1750T>A (p.Leu584Ile) c.1471T>A (p.Leu491Ile) c.1444T>A (p.Leu482Ile) c.1795T>A (p.Leu599Ile) | |
2 | g.162435382G>A | CA429731760 | KCNH7 | c.1770C>T (p.Ser590=) c.1749C>T (p.Ser583=) c.1470C>T (p.Ser490=) c.1443C>T (p.Ser481=) c.1794C>T (p.Ser598=) | |
2 | g.162435382G>C | CA429731761 | KCNH7 | c.1770C>G (p.Ser590=) c.1749C>G (p.Ser583=) c.1470C>G (p.Ser490=) c.1443C>G (p.Ser481=) c.1794C>G (p.Ser598=) | |
2 | g.162435382G>T | CA429731762 | KCNH7 | c.1770C>A (p.Ser590=) c.1749C>A (p.Ser583=) c.1470C>A (p.Ser490=) c.1443C>A (p.Ser481=) c.1794C>A (p.Ser598=) | |
2 | g.162435383G>A | CA349221054 | KCNH7 | c.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 |
2 | g.162435383G>C | CA349221055 | KCNH7 | c.1769C>G (p.Ser590Cys) c.1748C>G (p.Ser583Cys) c.1469C>G (p.Ser490Cys) c.1442C>G (p.Ser481Cys) c.1793C>G (p.Ser598Cys) | |
2 | g.162435383G>T | CA349221056 | KCNH7 | c.1769C>A (p.Ser590Tyr) c.1748C>A (p.Ser583Tyr) c.1469C>A (p.Ser490Tyr) c.1442C>A (p.Ser481Tyr) c.1793C>A (p.Ser598Tyr) | |
2 | g.162435384A>C | CA349221057 | KCNH7 | c.1768T>G (p.Ser590Ala) c.1747T>G (p.Ser583Ala) c.1468T>G (p.Ser490Ala) c.1441T>G (p.Ser481Ala) c.1792T>G (p.Ser598Ala) | |
2 | g.162435384A>G | CA349221058 | KCNH7 | c.1768T>C (p.Ser590Pro) c.1747T>C (p.Ser583Pro) c.1468T>C (p.Ser490Pro) c.1441T>C (p.Ser481Pro) c.1792T>C (p.Ser598Pro) | |
2 | g.162435384A>T | CA349221059 | KCNH7 | c.1768T>A (p.Ser590Thr) c.1747T>A (p.Ser583Thr) c.1468T>A (p.Ser490Thr) c.1441T>A (p.Ser481Thr) c.1792T>A (p.Ser598Thr) | |
2 | g.162435385A= | CA1303221319 | KCNH7 | c.1767T= (p.Asp589=) c.1746T= (p.Asp582=) c.1467T= (p.Asp489=) c.1440T= (p.Asp480=) c.1791T= (p.Asp597=) | |
2 | g.162435385A>C | CA349221060 | KCNH7 | c.1767T>G (p.Asp589Glu) c.1746T>G (p.Asp582Glu) c.1467T>G (p.Asp489Glu) c.1440T>G (p.Asp480Glu) c.1791T>G (p.Asp597Glu) | |
2 | g.162435385A>G | CA1935630 | KCNH7 | c.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 |
2 | g.162435385A>T | CA349221061 | KCNH7 | c.1767T>A (p.Asp589Glu) c.1746T>A (p.Asp582Glu) c.1467T>A (p.Asp489Glu) c.1440T>A (p.Asp480Glu) c.1791T>A (p.Asp597Glu) | |
2 | g.162435386T>A | CA349221062 | KCNH7 | c.1766A>T (p.Asp589Val) c.1745A>T (p.Asp582Val) c.1466A>T (p.Asp489Val) c.1439A>T (p.Asp480Val) c.1790A>T (p.Asp597Val) | |
2 | g.162435386T>C | CA349221063 | KCNH7 | c.1766A>G (p.Asp589Gly) c.1745A>G (p.Asp582Gly) c.1466A>G (p.Asp489Gly) c.1439A>G (p.Asp480Gly) c.1790A>G (p.Asp597Gly) | |
2 | g.162435386T>G | CA349221064 | KCNH7 | c.1766A>C (p.Asp589Ala) c.1745A>C (p.Asp582Ala) c.1466A>C (p.Asp489Ala) c.1439A>C (p.Asp480Ala) c.1790A>C (p.Asp597Ala) | |
2 | g.162435387C>A | CA349221065 | KCNH7 | c.1765G>T (p.Asp589Tyr) c.1744G>T (p.Asp582Tyr) c.1465G>T (p.Asp489Tyr) c.1438G>T (p.Asp480Tyr) c.1789G>T (p.Asp597Tyr) | |
2 | g.162435387C>G | CA349221066 | KCNH7 | c.1765G>C (p.Asp589His) c.1744G>C (p.Asp582His) c.1465G>C (p.Asp489His) c.1438G>C (p.Asp480His) c.1789G>C (p.Asp597His) | |
2 | g.162435387C>T | CA349221067 | KCNH7 | c.1765G>A (p.Asp589Asn) c.1744G>A (p.Asp582Asn) c.1465G>A (p.Asp489Asn) c.1438G>A (p.Asp480Asn) c.1789G>A (p.Asp597Asn) | |
2 | g.162435388C>A | CA349221068 | KCNH7 | c.1764G>T (p.Leu588Phe) c.1743G>T (p.Leu581Phe) c.1464G>T (p.Leu488Phe) c.1437G>T (p.Leu479Phe) c.1788G>T (p.Leu596Phe) | |
2 | g.162435388C>G | CA349221069 | KCNH7 | c.1764G>C (p.Leu588Phe) c.1743G>C (p.Leu581Phe) c.1464G>C (p.Leu488Phe) c.1437G>C (p.Leu479Phe) c.1788G>C (p.Leu596Phe) | |
2 | g.162435388C>T | CA429731771 | KCNH7 | c.1764G>A (p.Leu588=) c.1743G>A (p.Leu581=) c.1464G>A (p.Leu488=) c.1437G>A (p.Leu479=) c.1788G>A (p.Leu596=) | |
2 | g.162435389A>C | CA349221070 | KCNH7 | c.1763T>G (p.Leu588Trp) c.1742T>G (p.Leu581Trp) c.1463T>G (p.Leu488Trp) c.1436T>G (p.Leu479Trp) c.1787T>G (p.Leu596Trp) | |
2 | g.162435389A>G | CA349221071 | KCNH7 | c.1763T>C (p.Leu588Ser) c.1742T>C (p.Leu581Ser) c.1463T>C (p.Leu488Ser) c.1436T>C (p.Leu479Ser) c.1787T>C (p.Leu596Ser) | |
2 | g.162435389A>T | CA349221072 | KCNH7 | c.1763T>A (p.Leu588Ter) c.1742T>A (p.Leu581Ter) c.1463T>A (p.Leu488Ter) c.1436T>A (p.Leu479Ter) c.1787T>A (p.Leu596Ter) | |
2 | g.162435390A>C | CA349221073 | KCNH7 | c.1762T>G (p.Leu588Val) c.1741T>G (p.Leu581Val) c.1462T>G (p.Leu488Val) c.1435T>G (p.Leu479Val) c.1786T>G (p.Leu596Val) | |
2 | g.162435390A>G | CA429731774 | KCNH7 | c.1762T>C (p.Leu588=) c.1741T>C (p.Leu581=) c.1462T>C (p.Leu488=) c.1435T>C (p.Leu479=) c.1786T>C (p.Leu596=) | |
2 | g.162435390A>T | CA349221074 | KCNH7 | c.1762T>A (p.Leu588Met) c.1741T>A (p.Leu581Met) c.1462T>A (p.Leu488Met) c.1435T>A (p.Leu479Met) c.1786T>A (p.Leu596Met) | |
2 | g.162435391C>A | CA349221075 | KCNH7 | c.1761G>T (p.Trp587Cys) c.1740G>T (p.Trp580Cys) c.1461G>T (p.Trp487Cys) c.1434G>T (p.Trp478Cys) c.1785G>T (p.Trp595Cys) | |
2 | g.162435391C>G | CA349221076 | KCNH7 | c.1761G>C (p.Trp587Cys) c.1740G>C (p.Trp580Cys) c.1461G>C (p.Trp487Cys) c.1434G>C (p.Trp478Cys) c.1785G>C (p.Trp595Cys) | |
2 | g.162435391C>T | CA349221077 | KCNH7 | c.1761G>A (p.Trp587Ter) c.1740G>A (p.Trp580Ter) c.1461G>A (p.Trp487Ter) c.1434G>A (p.Trp478Ter) c.1785G>A (p.Trp595Ter) | |
2 | g.162435392C>A | CA349221078 | KCNH7 | c.1760G>T (p.Trp587Leu) c.1739G>T (p.Trp580Leu) c.1460G>T (p.Trp487Leu) c.1433G>T (p.Trp478Leu) c.1784G>T (p.Trp595Leu) | |
2 | g.162435392C>G | CA349221079 | KCNH7 | c.1760G>C (p.Trp587Ser) c.1739G>C (p.Trp580Ser) c.1460G>C (p.Trp487Ser) c.1433G>C (p.Trp478Ser) c.1784G>C (p.Trp595Ser) | |
2 | g.162435392C>T | CA349221080 | KCNH7 | c.1760G>A (p.Trp587Ter) c.1739G>A (p.Trp580Ter) c.1460G>A (p.Trp487Ter) c.1433G>A (p.Trp478Ter) c.1784G>A (p.Trp595Ter) | |
2 | g.162435393A>C | CA349221081 | KCNH7 | c.1759T>G (p.Trp587Gly) c.1738T>G (p.Trp580Gly) c.1459T>G (p.Trp487Gly) c.1432T>G (p.Trp478Gly) c.1783T>G (p.Trp595Gly) | |
2 | g.162435393A>G | CA349221082 | KCNH7 | c.1759T>C (p.Trp587Arg) c.1738T>C (p.Trp580Arg) c.1459T>C (p.Trp487Arg) c.1432T>C (p.Trp478Arg) c.1783T>C (p.Trp595Arg) | |
2 | g.162435393A>T | CA349221083 | KCNH7 | c.1759T>A (p.Trp587Arg) c.1738T>A (p.Trp580Arg) c.1459T>A (p.Trp487Arg) c.1432T>A (p.Trp478Arg) c.1783T>A (p.Trp595Arg) | |
2 | g.162435394T>A | CA429731780 | KCNH7 | c.1758A>T (p.Gly586=) c.1737A>T (p.Gly579=) c.1458A>T (p.Gly486=) c.1431A>T (p.Gly477=) c.1782A>T (p.Gly594=) | |
2 | g.162435394T>C | CA429731782 | KCNH7 | c.1758A>G (p.Gly586=) c.1737A>G (p.Gly579=) c.1458A>G (p.Gly486=) c.1431A>G (p.Gly477=) c.1782A>G (p.Gly594=) | |
2 | g.162435394T>G | CA429731781 | KCNH7 | c.1758A>C (p.Gly586=) c.1737A>C (p.Gly579=) c.1458A>C (p.Gly486=) c.1431A>C (p.Gly477=) c.1782A>C (p.Gly594=) | |
2 | g.162435395C>A | CA349221084 | KCNH7 | c.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 |
2 | g.162435395C= | CA1303221320 | KCNH7 | c.1757G= (p.Gly586=) c.1736G= (p.Gly579=) c.1457G= (p.Gly486=) c.1430G= (p.Gly477=) c.1781G= (p.Gly594=) | |
2 | g.162435395C>G | CA349221085 | KCNH7 | c.1757G>C (p.Gly586Ala) c.1736G>C (p.Gly579Ala) c.1457G>C (p.Gly486Ala) c.1430G>C (p.Gly477Ala) c.1781G>C (p.Gly594Ala) | |
2 | g.162435395C>T | CA59809358 | KCNH7 | c.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 |
2 | g.162435396C>A | CA349221087 | KCNH7 | c.1756G>T (p.Gly586Ter) c.1735G>T (p.Gly579Ter) c.1456G>T (p.Gly486Ter) c.1429G>T (p.Gly477Ter) c.1780G>T (p.Gly594Ter) | |
2 | g.162435396C= | CA1303221321 | KCNH7 | c.1756G= (p.Gly586=) c.1735G= (p.Gly579=) c.1456G= (p.Gly486=) c.1429G= (p.Gly477=) c.1780G= (p.Gly594=) | |
2 | g.162435396C>G | CA349221086 | KCNH7 | c.1756G>C (p.Gly586Arg) c.1735G>C (p.Gly579Arg) c.1456G>C (p.Gly486Arg) c.1429G>C (p.Gly477Arg) c.1780G>C (p.Gly594Arg) | |
2 | g.162435396C>T | CA1935631 | KCNH7 | c.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 |
2 | g.162435397G>A | CA429731787 | KCNH7 | c.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 |
2 | g.162435397G>C | CA349221088 | KCNH7 | c.1755C>G (p.Ile585Met) c.1734C>G (p.Ile578Met) c.1455C>G (p.Ile485Met) c.1428C>G (p.Ile476Met) c.1779C>G (p.Ile593Met) | |
2 | g.162435397G>T | CA429731788 | KCNH7 | c.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 |
2 | g.162435398A>C | CA349221089 | KCNH7 | c.1754T>G (p.Ile585Ser) c.1733T>G (p.Ile578Ser) c.1454T>G (p.Ile485Ser) c.1427T>G (p.Ile476Ser) c.1778T>G (p.Ile593Ser) | |
2 | g.162435398A>G | CA349221090 | KCNH7 | c.1754T>C (p.Ile585Thr) c.1733T>C (p.Ile578Thr) c.1454T>C (p.Ile485Thr) c.1427T>C (p.Ile476Thr) c.1778T>C (p.Ile593Thr) | |
2 | g.162435398A>T | CA349221091 | KCNH7 | c.1754T>A (p.Ile585Asn) c.1733T>A (p.Ile578Asn) c.1454T>A (p.Ile485Asn) c.1427T>A (p.Ile476Asn) c.1778T>A (p.Ile593Asn) | |
2 | g.162435399T>A | CA349221092 | KCNH7 | c.1753A>T (p.Ile585Phe) c.1732A>T (p.Ile578Phe) c.1453A>T (p.Ile485Phe) c.1426A>T (p.Ile476Phe) c.1777A>T (p.Ile593Phe) | |
2 | g.162435399T>C | CA349221093 | KCNH7 | c.1753A>G (p.Ile585Val) c.1732A>G (p.Ile578Val) c.1453A>G (p.Ile485Val) c.1426A>G (p.Ile476Val) c.1777A>G (p.Ile593Val) | |
2 | g.162435399T>G | CA349221094 | KCNH7 | c.1753A>C (p.Ile585Leu) c.1732A>C (p.Ile578Leu) c.1453A>C (p.Ile485Leu) c.1426A>C (p.Ile476Leu) c.1777A>C (p.Ile593Leu) | |
2 | g.162435400T>A | CA349221095 | KCNH7 | c.1752A>T (p.Lys584Asn) c.1731A>T (p.Lys577Asn) c.1452A>T (p.Lys484Asn) c.1425A>T (p.Lys475Asn) c.1776A>T (p.Lys592Asn) | |
2 | g.162435400T>C | CA429731791 | KCNH7 | c.1752A>G (p.Lys584=) c.1731A>G (p.Lys577=) c.1452A>G (p.Lys484=) c.1425A>G (p.Lys475=) c.1776A>G (p.Lys592=) | |
2 | g.162435400T>G | CA349221096 | KCNH7 | c.1752A>C (p.Lys584Asn) c.1731A>C (p.Lys577Asn) c.1452A>C (p.Lys484Asn) c.1425A>C (p.Lys475Asn) c.1776A>C (p.Lys592Asn) | |
2 | g.162435401T>A | CA349221097 | KCNH7 | c.1751A>T (p.Lys584Ile) c.1730A>T (p.Lys577Ile) c.1451A>T (p.Lys484Ile) c.1424A>T (p.Lys475Ile) c.1775A>T (p.Lys592Ile) | |
2 | g.162435401T>C | CA349221098 | KCNH7 | c.1751A>G (p.Lys584Arg) c.1730A>G (p.Lys577Arg) c.1451A>G (p.Lys484Arg) c.1424A>G (p.Lys475Arg) c.1775A>G (p.Lys592Arg) | |
2 | g.162435401T>G | CA349221099 | KCNH7 | c.1751A>C (p.Lys584Thr) c.1730A>C (p.Lys577Thr) c.1451A>C (p.Lys484Thr) c.1424A>C (p.Lys475Thr) c.1775A>C (p.Lys592Thr) | |
2 | g.162435402T>A | CA349221102 | KCNH7 | c.1750A>T (p.Lys584Ter) c.1729A>T (p.Lys577Ter) c.1450A>T (p.Lys484Ter) c.1423A>T (p.Lys475Ter) c.1774A>T (p.Lys592Ter) | |
2 | g.162435402T>C | CA349221101 | KCNH7 | c.1750A>G (p.Lys584Glu) c.1729A>G (p.Lys577Glu) c.1450A>G (p.Lys484Glu) c.1423A>G (p.Lys475Glu) c.1774A>G (p.Lys592Glu) | |
2 | g.162435402T>G | CA349221100 | KCNH7 | c.1750A>C (p.Lys584Gln) c.1729A>C (p.Lys577Gln) c.1450A>C (p.Lys484Gln) c.1423A>C (p.Lys475Gln) c.1774A>C (p.Lys592Gln) | |
2 | g.162435403_162435404del | CA2700909896 | KCNH7 | c.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 |
2 | g.162435403G>A | CA429731793 | KCNH7 | c.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 |
2 | g.162435403G>C | CA349221103 | KCNH7 | c.1749C>G (p.Asp583Glu) c.1728C>G (p.Asp576Glu) c.1449C>G (p.Asp483Glu) c.1422C>G (p.Asp474Glu) c.1773C>G (p.Asp591Glu) | |
2 | g.162435403G= | CA1303221322 | KCNH7 | c.1749C= (p.Asp583=) c.1728C= (p.Asp576=) c.1449C= (p.Asp483=) c.1422C= (p.Asp474=) c.1773C= (p.Asp591=) | |
2 | g.162435403G>T | CA1935632 | KCNH7 | c.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 |
2 | g.162435404T>A | CA349221104 | KCNH7 | c.1748A>T (p.Asp583Val) c.1727A>T (p.Asp576Val) c.1448A>T (p.Asp483Val) c.1421A>T (p.Asp474Val) c.1772A>T (p.Asp591Val) | |
2 | g.162435404T>C | CA349221105 | KCNH7 | c.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 |
2 | g.162435404T>G | CA349221106 | KCNH7 | c.1748A>C (p.Asp583Ala) c.1727A>C (p.Asp576Ala) c.1448A>C (p.Asp483Ala) c.1421A>C (p.Asp474Ala) c.1772A>C (p.Asp591Ala) | |
2 | g.162435405C>A | CA349221107 | KCNH7 | c.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 |
2 | g.162435405C>G | CA349221108 | KCNH7 | c.1747G>C (p.Asp583His) c.1726G>C (p.Asp576His) c.1447G>C (p.Asp483His) c.1420G>C (p.Asp474His) c.1771G>C (p.Asp591His) | |
2 | g.162435405C>T | CA349221109 | KCNH7 | c.1747G>A (p.Asp583Asn) c.1726G>A (p.Asp576Asn) c.1447G>A (p.Asp483Asn) c.1420G>A (p.Asp474Asn) c.1771G>A (p.Asp591Asn) | |
2 | g.162435406A>C | CA429731797 | KCNH7 | c.1746T>G (p.Thr582=) c.1725T>G (p.Thr575=) c.1446T>G (p.Thr482=) c.1419T>G (p.Thr473=) c.1770T>G (p.Thr590=) | |
2 | g.162435406A>G | CA429731799 | KCNH7 | c.1746T>C (p.Thr582=) c.1725T>C (p.Thr575=) c.1446T>C (p.Thr482=) c.1419T>C (p.Thr473=) c.1770T>C (p.Thr590=) | |
2 | g.162435406A>T | CA429731801 | KCNH7 | c.1746T>A (p.Thr582=) c.1725T>A (p.Thr575=) c.1446T>A (p.Thr482=) c.1419T>A (p.Thr473=) c.1770T>A (p.Thr590=) | |
2 | g.162435407G>A | CA1935633 | KCNH7 | c.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 |
2 | g.162435407G>C | CA349221110 | KCNH7 | c.1745C>G (p.Thr582Ser) c.1724C>G (p.Thr575Ser) c.1445C>G (p.Thr482Ser) c.1418C>G (p.Thr473Ser) c.1769C>G (p.Thr590Ser) | |
2 | g.162435407G= | CA1303221324 | KCNH7 | c.1745C= (p.Thr582=) c.1724C= (p.Thr575=) c.1445C= (p.Thr482=) c.1418C= (p.Thr473=) c.1769C= (p.Thr590=) | |
2 | g.162435407G>T | CA349221111 | KCNH7 | c.1745C>A (p.Thr582Asn) c.1724C>A (p.Thr575Asn) c.1445C>A (p.Thr482Asn) c.1418C>A (p.Thr473Asn) c.1769C>A (p.Thr590Asn) | |
2 | g.162435408T>A | CA349221112 | KCNH7 | c.1744A>T (p.Thr582Ser) c.1723A>T (p.Thr575Ser) c.1444A>T (p.Thr482Ser) c.1417A>T (p.Thr473Ser) c.1768A>T (p.Thr590Ser) | |
2 | g.162435408T>C | CA349221113 | KCNH7 | c.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 |
2 | g.162435408T>G | CA349221114 | KCNH7 | c.1744A>C (p.Thr582Pro) c.1723A>C (p.Thr575Pro) c.1444A>C (p.Thr482Pro) c.1417A>C (p.Thr473Pro) c.1768A>C (p.Thr590Pro) | |
2 | g.162435408T= | CA1303221327 | KCNH7 | c.1744A= (p.Thr582=) c.1723A= (p.Thr575=) c.1444A= (p.Thr482=) c.1417A= (p.Thr473=) c.1768A= (p.Thr590=) | |
2 | g.162435409C>A | CA429731804 | KCNH7 | c.1743G>T (p.Leu581=) c.1722G>T (p.Leu574=) c.1443G>T (p.Leu481=) c.1416G>T (p.Leu472=) c.1767G>T (p.Leu589=) | |
2 | g.162435409C>G | CA429731805 | KCNH7 | c.1743G>C (p.Leu581=) c.1722G>C (p.Leu574=) c.1443G>C (p.Leu481=) c.1416G>C (p.Leu472=) c.1767G>C (p.Leu589=) | |
2 | g.162435409C>T | CA429731803 | KCNH7 | c.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 |
2 | g.162435410A= | CA1303221328 | KCNH7 | c.1742T= (p.Leu581=) c.1721T= (p.Leu574=) c.1442T= (p.Leu481=) c.1415T= (p.Leu472=) c.1766T= (p.Leu589=) | |
2 | g.162435410A>C | CA349221116 | KCNH7 | c.1742T>G (p.Leu581Arg) c.1721T>G (p.Leu574Arg) c.1442T>G (p.Leu481Arg) c.1415T>G (p.Leu472Arg) c.1766T>G (p.Leu589Arg) | |
2 | g.162435410A>G | CA349221115 | KCNH7 | c.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 |
2 | g.162435410A>T | CA1935634 | KCNH7 | c.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 |
2 | g.162435411G>A | CA429731807 | KCNH7 | c.1741C>T (p.Leu581=) c.1720C>T (p.Leu574=) c.1441C>T (p.Leu481=) c.1414C>T (p.Leu472=) c.1765C>T (p.Leu589=) | |
2 | g.162435411G>C | CA349221117 | KCNH7 | c.1741C>G (p.Leu581Val) c.1720C>G (p.Leu574Val) c.1441C>G (p.Leu481Val) c.1414C>G (p.Leu472Val) c.1765C>G (p.Leu589Val) | |
2 | g.162435411G>T | CA349221118 | KCNH7 | c.1741C>A (p.Leu581Met) c.1720C>A (p.Leu574Met) c.1441C>A (p.Leu481Met) c.1414C>A (p.Leu472Met) c.1765C>A (p.Leu589Met) | |
2 | g.162435412G>A | CA1935635 | KCNH7 | c.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 |
2 | g.162435412G>C | CA349221119 | KCNH7 | c.1740C>G (p.Tyr580Ter) c.1719C>G (p.Tyr573Ter) c.1440C>G (p.Tyr480Ter) c.1413C>G (p.Tyr471Ter) c.1764C>G (p.Tyr588Ter) | |
2 | g.162435412G= | CA1303221329 | KCNH7 | c.1740C= (p.Tyr580=) c.1719C= (p.Tyr573=) c.1440C= (p.Tyr480=) c.1413C= (p.Tyr471=) c.1764C= (p.Tyr588=) | |
2 | g.162435412G>T | CA349221120 | KCNH7 | c.1740C>A (p.Tyr580Ter) c.1719C>A (p.Tyr573Ter) c.1440C>A (p.Tyr480Ter) c.1413C>A (p.Tyr471Ter) c.1764C>A (p.Tyr588Ter) | |
2 | g.162435413T>A | CA349221121 | KCNH7 | c.1739A>T (p.Tyr580Phe) c.1718A>T (p.Tyr573Phe) c.1439A>T (p.Tyr480Phe) c.1412A>T (p.Tyr471Phe) c.1763A>T (p.Tyr588Phe) | |
2 | g.162435413T>C | CA349221122 | KCNH7 | c.1739A>G (p.Tyr580Cys) c.1718A>G (p.Tyr573Cys) c.1439A>G (p.Tyr480Cys) c.1412A>G (p.Tyr471Cys) c.1763A>G (p.Tyr588Cys) | |
2 | g.162435413T>G | CA349221123 | KCNH7 | c.1739A>C (p.Tyr580Ser) c.1718A>C (p.Tyr573Ser) c.1439A>C (p.Tyr480Ser) c.1412A>C (p.Tyr471Ser) c.1763A>C (p.Tyr588Ser) | |
2 | g.162435414A= | CA1303221330 | KCNH7 | c.1738T= (p.Tyr580=) c.1717T= (p.Tyr573=) c.1438T= (p.Tyr480=) c.1411T= (p.Tyr471=) c.1762T= (p.Tyr588=) | |
2 | g.162435414A>C | CA349221124 | KCNH7 | c.1738T>G (p.Tyr580Asp) c.1717T>G (p.Tyr573Asp) c.1438T>G (p.Tyr480Asp) c.1411T>G (p.Tyr471Asp) c.1762T>G (p.Tyr588Asp) | |
2 | g.162435414A>G | CA349221125 | KCNH7 | c.1738T>C (p.Tyr580His) c.1717T>C (p.Tyr573His) c.1438T>C (p.Tyr480His) c.1411T>C (p.Tyr471His) c.1762T>C (p.Tyr588His) | |
2 | g.162435414A>T | CA349221126 | KCNH7 | c.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 |
2 | g.162435415A>C | CA429731811 | KCNH7 | c.1737T>G (p.Pro579=) c.1716T>G (p.Pro572=) c.1437T>G (p.Pro479=) c.1410T>G (p.Pro470=) c.1761T>G (p.Pro587=) | |
2 | g.162435415A>G | CA429731810 | KCNH7 | c.1737T>C (p.Pro579=) c.1716T>C (p.Pro572=) c.1437T>C (p.Pro479=) c.1410T>C (p.Pro470=) c.1761T>C (p.Pro587=) | |
2 | g.162435415A>T | CA429731809 | KCNH7 | c.1737T>A (p.Pro579=) c.1716T>A (p.Pro572=) c.1437T>A (p.Pro479=) c.1410T>A (p.Pro470=) c.1761T>A (p.Pro587=) | |
2 | g.162435416G>A | CA349221128 | KCNH7 | c.1736C>T (p.Pro579Leu) c.1715C>T (p.Pro572Leu) c.1436C>T (p.Pro479Leu) c.1409C>T (p.Pro470Leu) c.1760C>T (p.Pro587Leu) | |
2 | g.162435416G>C | CA349221129 | KCNH7 | c.1736C>G (p.Pro579Arg) c.1715C>G (p.Pro572Arg) c.1436C>G (p.Pro479Arg) c.1409C>G (p.Pro470Arg) c.1760C>G (p.Pro587Arg) | |
2 | g.162435416G>T | CA349221127 | KCNH7 | c.1736C>A (p.Pro579His) c.1715C>A (p.Pro572His) c.1436C>A (p.Pro479His) c.1409C>A (p.Pro470His) c.1760C>A (p.Pro587His) | |
2 | g.162435417G>A | CA349221130 | KCNH7 | c.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 |
2 | g.162435417G>C | CA59809372 | KCNH7 | c.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 |
2 | g.162435417G= | CA1303221331 | KCNH7 | c.1735C= (p.Pro579=) c.1714C= (p.Pro572=) c.1435C= (p.Pro479=) c.1408C= (p.Pro470=) c.1759C= (p.Pro587=) | |
2 | g.162435417G>T | CA349221131 | KCNH7 | c.1735C>A (p.Pro579Thr) c.1714C>A (p.Pro572Thr) c.1435C>A (p.Pro479Thr) c.1408C>A (p.Pro470Thr) c.1759C>A (p.Pro587Thr) | |
2 | g.162435418C>A | CA349221132 | KCNH7 | c.1734G>T (p.Arg578Ser) c.1713G>T (p.Arg571Ser) c.1434G>T (p.Arg478Ser) c.1407G>T (p.Arg469Ser) c.1758G>T (p.Arg586Ser) | |
2 | g.162435418C>G | CA349221133 | KCNH7 | c.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 |
2 | g.162435418C>T | CA429731813 | KCNH7 | c.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 |
2 | g.162435419C>A | CA349221136 | KCNH7 | c.1733G>T (p.Arg578Met) c.1712G>T (p.Arg571Met) c.1433G>T (p.Arg478Met) c.1406G>T (p.Arg469Met) c.1757G>T (p.Arg586Met) | |
2 | g.162435419C= | CA1303221332 | KCNH7 | c.1733G= (p.Arg578=) c.1712G= (p.Arg571=) c.1433G= (p.Arg478=) c.1406G= (p.Arg469=) c.1757G= (p.Arg586=) | |
2 | g.162435419C>G | CA349221135 | KCNH7 | c.1733G>C (p.Arg578Thr) c.1712G>C (p.Arg571Thr) c.1433G>C (p.Arg478Thr) c.1406G>C (p.Arg469Thr) c.1757G>C (p.Arg586Thr) | |
2 | g.162435419C>T | CA349221134 | KCNH7 | c.1733G>A (p.Arg578Lys) c.1712G>A (p.Arg571Lys) c.1433G>A (p.Arg478Lys) c.1406G>A (p.Arg469Lys) c.1757G>A (p.Arg586Lys) | |
2 | g.162435420T>A | CA349221137 | KCNH7 | c.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 |
2 | g.162435420T>C | CA349221138 | KCNH7 | c.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 |
2 | g.162435420T>G | CA429731816 | KCNH7 | c.1732A>C (p.Arg578=) c.1711A>C (p.Arg571=) c.1432A>C (p.Arg478=) c.1405A>C (p.Arg469=) c.1756A>C (p.Arg586=) | |
2 | g.162435424_162435425insCTTCTGTTGTCTATTAGGATAGAATAATACCTTGAAATTAATATTTCT | CA1935636 | KCNH7 | c.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 |
2 | g.162435421T>A | CA349221139 | KCNH7 | c.1731A>T (p.Glu577Asp) c.1710A>T (p.Glu570Asp) c.1431A>T (p.Glu477Asp) c.1404A>T (p.Glu468Asp) c.1755A>T (p.Glu585Asp) | |
2 | g.162435421T>C | CA1935637 | KCNH7 | c.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 |
2 | g.162435421T>G | CA349221140 | KCNH7 | c.1731A>C (p.Glu577Asp) c.1710A>C (p.Glu570Asp) c.1431A>C (p.Glu477Asp) c.1404A>C (p.Glu468Asp) c.1755A>C (p.Glu585Asp) | |
2 | g.162435421T= | CA1303221339 | KCNH7 | c.1731A= (p.Glu577=) c.1710A= (p.Glu570=) c.1431A= (p.Glu477=) c.1404A= (p.Glu468=) c.1755A= (p.Glu585=) | |
2 | g.162435422T>A | CA349221141 | KCNH7 | c.1730A>T (p.Glu577Val) c.1709A>T (p.Glu570Val) c.1430A>T (p.Glu477Val) c.1403A>T (p.Glu468Val) c.1754A>T (p.Glu585Val) | |
2 | g.162435422T>C | CA349221143 | KCNH7 | c.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 |
2 | g.162435422T>G | CA349221142 | KCNH7 | c.1730A>C (p.Glu577Ala) c.1709A>C (p.Glu570Ala) c.1430A>C (p.Glu477Ala) c.1403A>C (p.Glu468Ala) c.1754A>C (p.Glu585Ala) | |
2 | g.162435423C>A | CA349221144 | KCNH7 | c.1729G>T (p.Glu577Ter) c.1708G>T (p.Glu570Ter) c.1429G>T (p.Glu477Ter) c.1402G>T (p.Glu468Ter) c.1753G>T (p.Glu585Ter) | |
2 | g.162435423C>G | CA349221145 | KCNH7 | c.1729G>C (p.Glu577Gln) c.1708G>C (p.Glu570Gln) c.1429G>C (p.Glu477Gln) c.1402G>C (p.Glu468Gln) c.1753G>C (p.Glu585Gln) | |
2 | g.162435423C>T | CA349221146 | KCNH7 | c.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 |
2 | g.162435424T>A | CA429731820 | KCNH7 | c.1728A>T (p.Val576=) c.1707A>T (p.Val569=) c.1428A>T (p.Val476=) c.1401A>T (p.Val467=) c.1752A>T (p.Val584=) | |
2 | g.162435424T>C | CA1935638 | KCNH7 | c.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 |
2 | g.162435424T>G | CA429731821 | KCNH7 | c.1728A>C (p.Val576=) c.1707A>C (p.Val569=) c.1428A>C (p.Val476=) c.1401A>C (p.Val467=) c.1752A>C (p.Val584=) | |
2 | g.162435424T= | CA1303221341 | KCNH7 | c.1728A= (p.Val576=) c.1707A= (p.Val569=) c.1428A= (p.Val476=) c.1401A= (p.Val467=) c.1752A= (p.Val584=) | |
2 | g.162435425A>C | CA349221147 | KCNH7 | c.1727T>G (p.Val576Gly) c.1706T>G (p.Val569Gly) c.1427T>G (p.Val476Gly) c.1400T>G (p.Val467Gly) c.1751T>G (p.Val584Gly) | |
2 | g.162435425A>G | CA349221148 | KCNH7 | c.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 |
2 | g.162435425A>T | CA349221149 | KCNH7 | c.1727T>A (p.Val576Glu) c.1706T>A (p.Val569Glu) c.1427T>A (p.Val476Glu) c.1400T>A (p.Val467Glu) c.1751T>A (p.Val584Glu) | |
2 | g.162435426C>A | CA349221150 | KCNH7 | c.1726G>T (p.Val576Leu) c.1705G>T (p.Val569Leu) c.1426G>T (p.Val476Leu) c.1399G>T (p.Val467Leu) c.1750G>T (p.Val584Leu) | |
2 | g.162435426C= | CA1303221344 | KCNH7 | c.1726G= (p.Val576=) c.1705G= (p.Val569=) c.1426G= (p.Val476=) c.1399G= (p.Val467=) c.1750G= (p.Val584=) | |
2 | g.162435426C>G | CA349221151 | KCNH7 | c.1726G>C (p.Val576Leu) c.1705G>C (p.Val569Leu) c.1426G>C (p.Val476Leu) c.1399G>C (p.Val467Leu) c.1750G>C (p.Val584Leu) | |
2 | g.162435426C>T | CA59809375 | KCNH7 | c.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 |
2 | g.162435427A= | CA1303221345 | KCNH7 | c.1725T= (p.Asn575=) c.1704T= (p.Asn568=) c.1425T= (p.Asn475=) c.1398T= (p.Asn466=) c.1749T= (p.Asn583=) | |
2 | g.162435427A>C | CA349221152 | KCNH7 | c.1725T>G (p.Asn575Lys) c.1704T>G (p.Asn568Lys) c.1425T>G (p.Asn475Lys) c.1398T>G (p.Asn466Lys) c.1749T>G (p.Asn583Lys) | |
2 | g.162435427A>G | CA1935639 | KCNH7 | c.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 |
2 | g.162435427A>T | CA349221153 | KCNH7 | c.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 |
2 | g.162435428T>A | CA349221155 | KCNH7 | c.1724A>T (p.Asn575Ile) c.1703A>T (p.Asn568Ile) c.1424A>T (p.Asn475Ile) c.1397A>T (p.Asn466Ile) c.1748A>T (p.Asn583Ile) | |
2 | g.162435428T>C | CA349221156 | KCNH7 | c.1724A>G (p.Asn575Ser) c.1703A>G (p.Asn568Ser) c.1424A>G (p.Asn475Ser) c.1397A>G (p.Asn466Ser) c.1748A>G (p.Asn583Ser) | |
2 | g.162435428T>G | CA349221154 | KCNH7 | c.1724A>C (p.Asn575Thr) c.1703A>C (p.Asn568Thr) c.1424A>C (p.Asn475Thr) c.1397A>C (p.Asn466Thr) c.1748A>C (p.Asn583Thr) | |
2 | g.162435429T>A | CA349221157 | KCNH7 | c.1723A>T (p.Asn575Tyr) c.1702A>T (p.Asn568Tyr) c.1423A>T (p.Asn475Tyr) c.1396A>T (p.Asn466Tyr) c.1747A>T (p.Asn583Tyr) | |
2 | g.162435429T>C | CA349221159 | KCNH7 | c.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 |
2 | g.162435429T>G | CA349221158 | KCNH7 | c.1723A>C (p.Asn575His) c.1702A>C (p.Asn568His) c.1423A>C (p.Asn475His) c.1396A>C (p.Asn466His) c.1747A>C (p.Asn583His) | |
2 | g.162435429T= | CA1303221346 | KCNH7 | c.1723A= (p.Asn575=) c.1702A= (p.Asn568=) c.1423A= (p.Asn475=) c.1396A= (p.Asn466=) c.1747A= (p.Asn583=) | |
2 | g.162435430C>A | CA429731826 | KCNH7 | c.1722G>T (p.Gly574=) c.1701G>T (p.Gly567=) c.1422G>T (p.Gly474=) c.1395G>T (p.Gly465=) c.1746G>T (p.Gly582=) | |
2 | g.162435430C= | CA1303221347 | KCNH7 | c.1722G= (p.Gly574=) c.1701G= (p.Gly567=) c.1422G= (p.Gly474=) c.1395G= (p.Gly465=) c.1746G= (p.Gly582=) | |
2 | g.162435430C>G | CA429731828 | KCNH7 | c.1722G>C (p.Gly574=) c.1701G>C (p.Gly567=) c.1422G>C (p.Gly474=) c.1395G>C (p.Gly465=) c.1746G>C (p.Gly582=) | |
2 | g.162435430C>T | CA1935640 | KCNH7 | c.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 |
2 | g.162435431C>A | CA349221160 | KCNH7 | c.1721G>T (p.Gly574Val) c.1700G>T (p.Gly567Val) c.1421G>T (p.Gly474Val) c.1394G>T (p.Gly465Val) c.1745G>T (p.Gly582Val) | |
2 | g.162435431C>G | CA349221161 | KCNH7 | c.1721G>C (p.Gly574Ala) c.1700G>C (p.Gly567Ala) c.1421G>C (p.Gly474Ala) c.1394G>C (p.Gly465Ala) c.1745G>C (p.Gly582Ala) | |
2 | g.162435431C>T | CA349221162 | KCNH7 | c.1721G>A (p.Gly574Glu) c.1700G>A (p.Gly567Glu) c.1421G>A (p.Gly474Glu) c.1394G>A (p.Gly465Glu) c.1745G>A (p.Gly582Glu) | |
2 | g.162435432C>A | CA349221163 | KCNH7 | c.1720G>T (p.Gly574Trp) c.1699G>T (p.Gly567Trp) c.1420G>T (p.Gly474Trp) c.1393G>T (p.Gly465Trp) c.1744G>T (p.Gly582Trp) | |
2 | g.162435432C>G | CA349221164 | KCNH7 | c.1720G>C (p.Gly574Arg) c.1699G>C (p.Gly567Arg) c.1420G>C (p.Gly474Arg) c.1393G>C (p.Gly465Arg) c.1744G>C (p.Gly582Arg) | |
2 | g.162435432C>T | CA349221165 | KCNH7 | c.1720G>A (p.Gly574Arg) c.1699G>A (p.Gly567Arg) c.1420G>A (p.Gly474Arg) c.1393G>A (p.Gly465Arg) c.1744G>A (p.Gly582Arg) | |
2 | g.162435433A>C | CA349221166 | KCNH7 | c.1719T>G (p.Ile573Met) c.1698T>G (p.Ile566Met) c.1419T>G (p.Ile473Met) c.1392T>G (p.Ile464Met) c.1743T>G (p.Ile581Met) | |
2 | g.162435433A>G | CA429731830 | KCNH7 | c.1719T>C (p.Ile573=) c.1698T>C (p.Ile566=) c.1419T>C (p.Ile473=) c.1392T>C (p.Ile464=) c.1743T>C (p.Ile581=) | |
2 | g.162435433A>T | CA429731831 | KCNH7 | c.1719T>A (p.Ile573=) c.1698T>A (p.Ile566=) c.1419T>A (p.Ile473=) c.1392T>A (p.Ile464=) c.1743T>A (p.Ile581=) | |
2 | g.162435434A>C | CA349221167 | KCNH7 | c.1718T>G (p.Ile573Ser) c.1697T>G (p.Ile566Ser) c.1418T>G (p.Ile473Ser) c.1391T>G (p.Ile464Ser) c.1742T>G (p.Ile581Ser) | |
2 | g.162435434A>G | CA349221168 | KCNH7 | c.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 |
2 | g.162435434A>T | CA349221169 | KCNH7 | c.1718T>A (p.Ile573Asn) c.1697T>A (p.Ile566Asn) c.1418T>A (p.Ile473Asn) c.1391T>A (p.Ile464Asn) c.1742T>A (p.Ile581Asn) | |
2 | g.162435435T>A | CA349221172 | KCNH7 | c.1717A>T (p.Ile573Phe) c.1696A>T (p.Ile566Phe) c.1417A>T (p.Ile473Phe) c.1390A>T (p.Ile464Phe) c.1741A>T (p.Ile581Phe) | |
2 | g.162435435T>C | CA349221171 | KCNH7 | c.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 |
2 | g.162435435T>G | CA349221170 | KCNH7 | c.1717A>C (p.Ile573Leu) c.1696A>C (p.Ile566Leu) c.1417A>C (p.Ile473Leu) c.1390A>C (p.Ile464Leu) c.1741A>C (p.Ile581Leu) | |
2 | g.162435435T= | CA1303221348 | KCNH7 | c.1717A= (p.Ile573=) c.1696A= (p.Ile566=) c.1417A= (p.Ile473=) c.1390A= (p.Ile464=) c.1741A= (p.Ile581=) | |
2 | g.162435436C>A | CA429731834 | KCNH7 | c.1716G>T (p.Ala572=) c.1695G>T (p.Ala565=) c.1416G>T (p.Ala472=) c.1389G>T (p.Ala463=) c.1740G>T (p.Ala580=) | |
2 | g.162435436C= | CA1303221349 | KCNH7 | c.1716G= (p.Ala572=) c.1695G= (p.Ala565=) c.1416G= (p.Ala472=) c.1389G= (p.Ala463=) c.1740G= (p.Ala580=) | |
2 | g.162435436C>G | CA429731835 | KCNH7 | c.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 |
2 | g.162435436C>T | CA1935641 | KCNH7 | c.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 |
2 | g.162435437G>A | CA349221173 | KCNH7 | c.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 |
2 | g.162435437G>C | CA349221174 | KCNH7 | c.1715C>G (p.Ala572Gly) c.1694C>G (p.Ala565Gly) c.1415C>G (p.Ala472Gly) c.1388C>G (p.Ala463Gly) c.1739C>G (p.Ala580Gly) | |
2 | g.162435437G>T | CA349221175 | KCNH7 | c.1715C>A (p.Ala572Glu) c.1694C>A (p.Ala565Glu) c.1415C>A (p.Ala472Glu) c.1388C>A (p.Ala463Glu) c.1739C>A (p.Ala580Glu) | |
2 | g.162435438C>A | CA349221176 | KCNH7 | c.1714G>T (p.Ala572Ser) c.1693G>T (p.Ala565Ser) c.1414G>T (p.Ala472Ser) c.1387G>T (p.Ala463Ser) c.1738G>T (p.Ala580Ser) | |
2 | g.162435438C>G | CA349221177 | KCNH7 | c.1714G>C (p.Ala572Pro) c.1693G>C (p.Ala565Pro) c.1414G>C (p.Ala472Pro) c.1387G>C (p.Ala463Pro) c.1738G>C (p.Ala580Pro) | |
2 | g.162435438C>T | CA349221178 | KCNH7 | c.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 |
2 | g.162435439A>C | CA349221179 | KCNH7 | c.1713T>G (p.Tyr571Ter) c.1692T>G (p.Tyr564Ter) c.1413T>G (p.Tyr471Ter) c.1386T>G (p.Tyr462Ter) c.1737T>G (p.Tyr579Ter) | |
2 | g.162435439A>G | CA429731841 | KCNH7 | c.1713T>C (p.Tyr571=) c.1692T>C (p.Tyr564=) c.1413T>C (p.Tyr471=) c.1386T>C (p.Tyr462=) c.1737T>C (p.Tyr579=) | |
2 | g.162435439A>T | CA349221180 | KCNH7 | c.1713T>A (p.Tyr571Ter) c.1692T>A (p.Tyr564Ter) c.1413T>A (p.Tyr471Ter) c.1386T>A (p.Tyr462Ter) c.1737T>A (p.Tyr579Ter) | |
2 | g.162435440T>A | CA349221181 | KCNH7 | c.1712A>T (p.Tyr571Phe) c.1691A>T (p.Tyr564Phe) c.1412A>T (p.Tyr471Phe) c.1385A>T (p.Tyr462Phe) c.1736A>T (p.Tyr579Phe) | |
2 | g.162435440T>C | CA349221182 | KCNH7 | c.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 |
2 | g.162435440T>G | CA349221183 | KCNH7 | c.1712A>C (p.Tyr571Ser) c.1691A>C (p.Tyr564Ser) c.1412A>C (p.Tyr471Ser) c.1385A>C (p.Tyr462Ser) c.1736A>C (p.Tyr579Ser) | |
2 | g.162435440T= | CA1303221350 | KCNH7 | c.1712A= (p.Tyr571=) c.1691A= (p.Tyr564=) c.1412A= (p.Tyr471=) c.1385A= (p.Tyr462=) c.1736A= (p.Tyr579=) | |
2 | g.162435441A>C | CA349221186 | KCNH7 | c.1711T>G (p.Tyr571Asp) c.1690T>G (p.Tyr564Asp) c.1411T>G (p.Tyr471Asp) c.1384T>G (p.Tyr462Asp) c.1735T>G (p.Tyr579Asp) | |
2 | g.162435441A>G | CA349221185 | KCNH7 | c.1711T>C (p.Tyr571His) c.1690T>C (p.Tyr564His) c.1411T>C (p.Tyr471His) c.1384T>C (p.Tyr462His) c.1735T>C (p.Tyr579His) | |
2 | g.162435441A>T | CA349221184 | KCNH7 | c.1711T>A (p.Tyr571Asn) c.1690T>A (p.Tyr564Asn) c.1411T>A (p.Tyr471Asn) c.1384T>A (p.Tyr462Asn) c.1735T>A (p.Tyr579Asn) | |
2 | g.162435442C>A | CA349221189 | KCNH7 | c.1710G>T (p.Trp570Cys) c.1689G>T (p.Trp563Cys) c.1410G>T (p.Trp470Cys) c.1383G>T (p.Trp461Cys) c.1734G>T (p.Trp578Cys) | |
2 | g.162435442C>G | CA349221187 | KCNH7 | c.1710G>C (p.Trp570Cys) c.1689G>C (p.Trp563Cys) c.1410G>C (p.Trp470Cys) c.1383G>C (p.Trp461Cys) c.1734G>C (p.Trp578Cys) | |
2 | g.162435442C>T | CA349221188 | KCNH7 | c.1710G>A (p.Trp570Ter) c.1689G>A (p.Trp563Ter) c.1410G>A (p.Trp470Ter) c.1383G>A (p.Trp461Ter) c.1734G>A (p.Trp578Ter) | |
2 | g.162435443C>A | CA349221190 | KCNH7 | c.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 |
2 | g.162435443C= | CA1303221351 | KCNH7 | c.1709G= (p.Trp570=) c.1688G= (p.Trp563=) c.1409G= (p.Trp470=) c.1382G= (p.Trp461=) c.1733G= (p.Trp578=) | |
2 | g.162435443C>G | CA349221191 | KCNH7 | c.1709G>C (p.Trp570Ser) c.1688G>C (p.Trp563Ser) c.1409G>C (p.Trp470Ser) c.1382G>C (p.Trp461Ser) c.1733G>C (p.Trp578Ser) | |
2 | g.162435443C>T | CA349221192 | KCNH7 | c.1709G>A (p.Trp570Ter) c.1688G>A (p.Trp563Ter) c.1409G>A (p.Trp470Ter) c.1382G>A (p.Trp461Ter) c.1733G>A (p.Trp578Ter) | |
2 | g.162435444A>C | CA349221193 | KCNH7 | c.1708T>G (p.Trp570Gly) c.1687T>G (p.Trp563Gly) c.1408T>G (p.Trp470Gly) c.1381T>G (p.Trp461Gly) c.1732T>G (p.Trp578Gly) | |
2 | g.162435444A>G | CA349221194 | KCNH7 | c.1708T>C (p.Trp570Arg) c.1687T>C (p.Trp563Arg) c.1408T>C (p.Trp470Arg) c.1381T>C (p.Trp461Arg) c.1732T>C (p.Trp578Arg) | |
2 | g.162435444A>T | CA349221195 | KCNH7 | c.1708T>A (p.Trp570Arg) c.1687T>A (p.Trp563Arg) c.1408T>A (p.Trp470Arg) c.1381T>A (p.Trp461Arg) c.1732T>A (p.Trp578Arg) | |
2 | g.162435445A>C | CA349221196 | KCNH7 | c.1707T>G (p.Ile569Met) c.1686T>G (p.Ile562Met) c.1407T>G (p.Ile469Met) c.1380T>G (p.Ile460Met) c.1731T>G (p.Ile577Met) | |
2 | g.162435445A>G | CA429731849 | KCNH7 | c.1707T>C (p.Ile569=) c.1686T>C (p.Ile562=) c.1407T>C (p.Ile469=) c.1380T>C (p.Ile460=) c.1731T>C (p.Ile577=) | |
2 | g.162435445A>T | CA429731848 | KCNH7 | c.1707T>A (p.Ile569=) c.1686T>A (p.Ile562=) c.1407T>A (p.Ile469=) c.1380T>A (p.Ile460=) c.1731T>A (p.Ile577=) | |
2 | g.162435446A>C | CA349221197 | KCNH7 | c.1706T>G (p.Ile569Ser) c.1685T>G (p.Ile562Ser) c.1406T>G (p.Ile469Ser) c.1379T>G (p.Ile460Ser) c.1730T>G (p.Ile577Ser) | |
2 | g.162435446A>G | CA349221198 | KCNH7 | c.1706T>C (p.Ile569Thr) c.1685T>C (p.Ile562Thr) c.1406T>C (p.Ile469Thr) c.1379T>C (p.Ile460Thr) c.1730T>C (p.Ile577Thr) | |
2 | g.162435446A>T | CA349221199 | KCNH7 | c.1706T>A (p.Ile569Asn) c.1685T>A (p.Ile562Asn) c.1406T>A (p.Ile469Asn) c.1379T>A (p.Ile460Asn) c.1730T>A (p.Ile577Asn) | |
2 | g.162435447T>A | CA349221201 | KCNH7 | c.1705A>T (p.Ile569Phe) c.1684A>T (p.Ile562Phe) c.1405A>T (p.Ile469Phe) c.1378A>T (p.Ile460Phe) c.1729A>T (p.Ile577Phe) | |
2 | g.162435447T>C | CA349221202 | KCNH7 | c.1705A>G (p.Ile569Val) c.1684A>G (p.Ile562Val) c.1405A>G (p.Ile469Val) c.1378A>G (p.Ile460Val) c.1729A>G (p.Ile577Val) | |
2 | g.162435447T>G | CA349221200 | KCNH7 | c.1705A>C (p.Ile569Leu) c.1684A>C (p.Ile562Leu) c.1405A>C (p.Ile469Leu) c.1378A>C (p.Ile460Leu) c.1729A>C (p.Ile577Leu) | |
2 | g.162435448G>A | CA429731851 | KCNH7 | c.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 |
2 | g.162435448G>C | CA349221203 | KCNH7 | c.1704C>G (p.Cys568Trp) c.1683C>G (p.Cys561Trp) c.1404C>G (p.Cys468Trp) c.1377C>G (p.Cys459Trp) c.1728C>G (p.Cys576Trp) | |
2 | g.162435448G>T | CA349221204 | KCNH7 | c.1704C>A (p.Cys568Ter) c.1683C>A (p.Cys561Ter) c.1404C>A (p.Cys468Ter) c.1377C>A (p.Cys459Ter) c.1728C>A (p.Cys576Ter) | |
2 | g.162435449C>A | CA349221205 | KCNH7 | c.1703G>T (p.Cys568Phe) c.1682G>T (p.Cys561Phe) c.1403G>T (p.Cys468Phe) c.1376G>T (p.Cys459Phe) c.1727G>T (p.Cys576Phe) | |
2 | g.162435449C>G | CA349221206 | KCNH7 | c.1703G>C (p.Cys568Ser) c.1682G>C (p.Cys561Ser) c.1403G>C (p.Cys468Ser) c.1376G>C (p.Cys459Ser) c.1727G>C (p.Cys576Ser) | |
2 | g.162435449C>T | CA349221207 | KCNH7 | c.1703G>A (p.Cys568Tyr) c.1682G>A (p.Cys561Tyr) c.1403G>A (p.Cys468Tyr) c.1376G>A (p.Cys459Tyr) c.1727G>A (p.Cys576Tyr) | |
2 | g.162435450A>C | CA349221210 | KCNH7 | c.1702T>G (p.Cys568Gly) c.1681T>G (p.Cys561Gly) c.1402T>G (p.Cys468Gly) c.1375T>G (p.Cys459Gly) c.1726T>G (p.Cys576Gly) | |
2 | g.162435450A>G | CA349221208 | KCNH7 | c.1702T>C (p.Cys568Arg) c.1681T>C (p.Cys561Arg) c.1402T>C (p.Cys468Arg) c.1375T>C (p.Cys459Arg) c.1726T>C (p.Cys576Arg) | |
2 | g.162435450A>T | CA349221209 | KCNH7 | c.1702T>A (p.Cys568Ser) c.1681T>A (p.Cys561Ser) c.1402T>A (p.Cys468Ser) c.1375T>A (p.Cys459Ser) c.1726T>A (p.Cys576Ser) | |
2 | g.162435451A>C | CA429731856 | KCNH7 | c.1701T>G (p.Ala567=) c.1680T>G (p.Ala560=) c.1401T>G (p.Ala467=) c.1374T>G (p.Ala458=) c.1725T>G (p.Ala575=) | |
2 | g.162435451A>G | CA429731857 | KCNH7 | c.1701T>C (p.Ala567=) c.1680T>C (p.Ala560=) c.1401T>C (p.Ala467=) c.1374T>C (p.Ala458=) c.1725T>C (p.Ala575=) | |
2 | g.162435451A>T | CA429731858 | KCNH7 | c.1701T>A (p.Ala567=) c.1680T>A (p.Ala560=) c.1401T>A (p.Ala467=) c.1374T>A (p.Ala458=) c.1725T>A (p.Ala575=) | |
2 | g.162435452G>A | CA349221211 | KCNH7 | c.1700C>T (p.Ala567Val) c.1679C>T (p.Ala560Val) c.1400C>T (p.Ala467Val) c.1373C>T (p.Ala458Val) c.1724C>T (p.Ala575Val) | |
2 | g.162435452G>C | CA349221212 | KCNH7 | c.1700C>G (p.Ala567Gly) c.1679C>G (p.Ala560Gly) c.1400C>G (p.Ala467Gly) c.1373C>G (p.Ala458Gly) c.1724C>G (p.Ala575Gly) | |
2 | g.162435452G>T | CA349221213 | KCNH7 | c.1700C>A (p.Ala567Asp) c.1679C>A (p.Ala560Asp) c.1400C>A (p.Ala467Asp) c.1373C>A (p.Ala458Asp) c.1724C>A (p.Ala575Asp) | |
2 | g.162435453C>A | CA349221214 | KCNH7 | c.1699G>T (p.Ala567Ser) c.1678G>T (p.Ala560Ser) c.1399G>T (p.Ala467Ser) c.1372G>T (p.Ala458Ser) c.1723G>T (p.Ala575Ser) | |
2 | g.162435453C>G | CA349221215 | KCNH7 | c.1699G>C (p.Ala567Pro) c.1678G>C (p.Ala560Pro) c.1399G>C (p.Ala467Pro) c.1372G>C (p.Ala458Pro) c.1723G>C (p.Ala575Pro) | |
2 | g.162435453C>T | CA349221216 | KCNH7 | c.1699G>A (p.Ala567Thr) c.1678G>A (p.Ala560Thr) c.1399G>A (p.Ala467Thr) c.1372G>A (p.Ala458Thr) c.1723G>A (p.Ala575Thr) | |
2 | g.162435454C>A | CA429731861 | KCNH7 | c.1698G>T (p.Leu566=) c.1677G>T (p.Leu559=) c.1398G>T (p.Leu466=) c.1371G>T (p.Leu457=) c.1722G>T (p.Leu574=) | |
2 | g.162435454C>G | CA429731863 | KCNH7 | c.1698G>C (p.Leu566=) c.1677G>C (p.Leu559=) c.1398G>C (p.Leu466=) c.1371G>C (p.Leu457=) c.1722G>C (p.Leu574=) | |
2 | g.162435454C>T | CA429731864 | KCNH7 | c.1698G>A (p.Leu566=) c.1677G>A (p.Leu559=) c.1398G>A (p.Leu466=) c.1371G>A (p.Leu457=) c.1722G>A (p.Leu574=) | |
2 | g.162435455A>C | CA349221219 | KCNH7 | c.1697T>G (p.Leu566Arg) c.1676T>G (p.Leu559Arg) c.1397T>G (p.Leu466Arg) c.1370T>G (p.Leu457Arg) c.1721T>G (p.Leu574Arg) | |
2 | g.162435455A>G | CA349221218 | KCNH7 | c.1697T>C (p.Leu566Pro) c.1676T>C (p.Leu559Pro) c.1397T>C (p.Leu466Pro) c.1370T>C (p.Leu457Pro) c.1721T>C (p.Leu574Pro) | |
2 | g.162435455A>T | CA349221217 | KCNH7 | c.1697T>A (p.Leu566Gln) c.1676T>A (p.Leu559Gln) c.1397T>A (p.Leu466Gln) c.1370T>A (p.Leu457Gln) c.1721T>A (p.Leu574Gln) | |
2 | g.162435456G>A | CA429731866 | KCNH7 | c.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 |
2 | g.162435456G>C | CA349221220 | KCNH7 | c.1696C>G (p.Leu566Val) c.1675C>G (p.Leu559Val) c.1396C>G (p.Leu466Val) c.1369C>G (p.Leu457Val) c.1720C>G (p.Leu574Val) | |
2 | g.162435456G>T | CA349221221 | KCNH7 | c.1696C>A (p.Leu566Met) c.1675C>A (p.Leu559Met) c.1396C>A (p.Leu466Met) c.1369C>A (p.Leu457Met) c.1720C>A (p.Leu574Met) | |
2 | g.162435457C>A | CA349221222 | KCNH7 | c.1695G>T (p.Trp565Cys) c.1674G>T (p.Trp558Cys) c.1395G>T (p.Trp465Cys) c.1368G>T (p.Trp456Cys) c.1719G>T (p.Trp573Cys) | |
2 | g.162435457C>G | CA349221223 | KCNH7 | c.1695G>C (p.Trp565Cys) c.1674G>C (p.Trp558Cys) c.1395G>C (p.Trp465Cys) c.1368G>C (p.Trp456Cys) c.1719G>C (p.Trp573Cys) | |
2 | g.162435457C>T | CA349221224 | KCNH7 | c.1695G>A (p.Trp565Ter) c.1674G>A (p.Trp558Ter) c.1395G>A (p.Trp465Ter) c.1368G>A (p.Trp456Ter) c.1719G>A (p.Trp573Ter) | |
2 | g.162435458C>A | CA349221225 | KCNH7 | c.1694G>T (p.Trp565Leu) c.1673G>T (p.Trp558Leu) c.1394G>T (p.Trp465Leu) c.1367G>T (p.Trp456Leu) c.1718G>T (p.Trp573Leu) | |
2 | g.162435458C>G | CA349221226 | KCNH7 | c.1694G>C (p.Trp565Ser) c.1673G>C (p.Trp558Ser) c.1394G>C (p.Trp465Ser) c.1367G>C (p.Trp456Ser) c.1718G>C (p.Trp573Ser) | |
2 | g.162435458C>T | CA349221227 | KCNH7 | c.1694G>A (p.Trp565Ter) c.1673G>A (p.Trp558Ter) c.1394G>A (p.Trp465Ter) c.1367G>A (p.Trp456Ter) c.1718G>A (p.Trp573Ter) | |
2 | g.162435459A>C | CA349221228 | KCNH7 | c.1693T>G (p.Trp565Gly) c.1672T>G (p.Trp558Gly) c.1393T>G (p.Trp465Gly) c.1366T>G (p.Trp456Gly) c.1717T>G (p.Trp573Gly) | |
2 | g.162435459A>G | CA349221229 | KCNH7 | c.1693T>C (p.Trp565Arg) c.1672T>C (p.Trp558Arg) c.1393T>C (p.Trp465Arg) c.1366T>C (p.Trp456Arg) c.1717T>C (p.Trp573Arg) | |
2 | g.162435459A>T | CA349221230 | KCNH7 | c.1693T>A (p.Trp565Arg) c.1672T>A (p.Trp558Arg) c.1393T>A (p.Trp465Arg) c.1366T>A (p.Trp456Arg) c.1717T>A (p.Trp573Arg) | |
2 | g.162435459_162435523del | CA2752941700 | KCNH7 | c.1629_1693del (p.Tyr544AlafsTer18) c.1608_1672del (p.Tyr537AlafsTer18) c.1329_1393del (p.Tyr444AlafsTer18) c.1302_1366del (p.Tyr435AlafsTer18) c.1653_1717del (p.Tyr552AlafsTer18) |