Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.162435321T>A | CA349220919 | KCNH7 | c.1831A>T (p.Lys611Ter) c.1810A>T (p.Lys604Ter) c.1531A>T (p.Lys511Ter) c.1504A>T (p.Lys502Ter) c.1855A>T (p.Lys619Ter) | |
2 | g.162435321T>C | CA1935618 | KCNH7 | c.1831A>G (p.Lys611Glu) c.1810A>G (p.Lys604Glu) c.1531A>G (p.Lys511Glu) c.1504A>G (p.Lys502Glu) c.1855A>G (p.Lys619Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162435321T>G | CA349220920 | KCNH7 | c.1831A>C (p.Lys611Gln) c.1810A>C (p.Lys604Gln) c.1531A>C (p.Lys511Gln) c.1504A>C (p.Lys502Gln) c.1855A>C (p.Lys619Gln) | |
2 | g.162435321T= | CA1303221243 | KCNH7 | c.1831A= (p.Lys611=) c.1810A= (p.Lys604=) c.1531A= (p.Lys511=) c.1504A= (p.Lys502=) c.1855A= (p.Lys619=) | |
2 | g.162435322A>C | CA349220921 | KCNH7 | c.1830T>G (p.Ile610Met) c.1809T>G (p.Ile603Met) c.1530T>G (p.Ile510Met) c.1503T>G (p.Ile501Met) c.1854T>G (p.Ile618Met) | |
2 | g.162435322A>G | CA429731696 | KCNH7 | c.1830T>C (p.Ile610=) c.1809T>C (p.Ile603=) c.1530T>C (p.Ile510=) c.1503T>C (p.Ile501=) c.1854T>C (p.Ile618=) | |
2 | g.162435322A>T | CA429731698 | KCNH7 | c.1830T>A (p.Ile610=) c.1809T>A (p.Ile603=) c.1530T>A (p.Ile510=) c.1503T>A (p.Ile501=) c.1854T>A (p.Ile618=) | |
2 | g.162435323A>C | CA349220923 | KCNH7 | c.1829T>G (p.Ile610Ser) c.1808T>G (p.Ile603Ser) c.1529T>G (p.Ile510Ser) c.1502T>G (p.Ile501Ser) c.1853T>G (p.Ile618Ser) | |
2 | g.162435323A>G | CA349220922 | KCNH7 | c.1829T>C (p.Ile610Thr) c.1808T>C (p.Ile603Thr) c.1529T>C (p.Ile510Thr) c.1502T>C (p.Ile501Thr) c.1853T>C (p.Ile618Thr) | gnomAD v4 |
2 | g.162435323A>T | CA349220924 | KCNH7 | c.1829T>A (p.Ile610Asn) c.1808T>A (p.Ile603Asn) c.1529T>A (p.Ile510Asn) c.1502T>A (p.Ile501Asn) c.1853T>A (p.Ile618Asn) | |
2 | g.162435324T>A | CA349220925 | KCNH7 | c.1828A>T (p.Ile610Phe) c.1807A>T (p.Ile603Phe) c.1528A>T (p.Ile510Phe) c.1501A>T (p.Ile501Phe) c.1852A>T (p.Ile618Phe) | |
2 | g.162435324T>C | CA1935619 | KCNH7 | c.1828A>G (p.Ile610Val) c.1807A>G (p.Ile603Val) c.1528A>G (p.Ile510Val) c.1501A>G (p.Ile501Val) c.1852A>G (p.Ile618Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162435324T>G | CA349220926 | KCNH7 | c.1828A>C (p.Ile610Leu) c.1807A>C (p.Ile603Leu) c.1528A>C (p.Ile510Leu) c.1501A>C (p.Ile501Leu) c.1852A>C (p.Ile618Leu) | |
2 | g.162435324T= | CA1303221248 | KCNH7 | c.1828A= (p.Ile610=) c.1807A= (p.Ile603=) c.1528A= (p.Ile510=) c.1501A= (p.Ile501=) c.1852A= (p.Ile618=) | |
2 | g.162435325G>A | CA429731699 | KCNH7 | c.1827C>T (p.Ser609=) c.1806C>T (p.Ser602=) c.1527C>T (p.Ser509=) c.1500C>T (p.Ser500=) c.1851C>T (p.Ser617=) | gnomAD v4 |
2 | g.162435325G>C | CA429731704 | KCNH7 | c.1827C>G (p.Ser609=) c.1806C>G (p.Ser602=) c.1527C>G (p.Ser509=) c.1500C>G (p.Ser500=) c.1851C>G (p.Ser617=) | dbSNP gnomAD v4 |
2 | g.162435325G= | CA1303221251 | KCNH7 | c.1827C= (p.Ser609=) c.1806C= (p.Ser602=) c.1527C= (p.Ser509=) c.1500C= (p.Ser500=) c.1851C= (p.Ser617=) | |
2 | g.162435325G>T | CA429731701 | KCNH7 | c.1827C>A (p.Ser609=) c.1806C>A (p.Ser602=) c.1527C>A (p.Ser509=) c.1500C>A (p.Ser500=) c.1851C>A (p.Ser617=) | |
2 | g.162435326G>A | CA349220927 | KCNH7 | c.1826C>T (p.Ser609Phe) c.1805C>T (p.Ser602Phe) c.1526C>T (p.Ser509Phe) c.1499C>T (p.Ser500Phe) c.1850C>T (p.Ser617Phe) | |
2 | g.162435326G>C | CA349220929 | KCNH7 | c.1826C>G (p.Ser609Cys) c.1805C>G (p.Ser602Cys) c.1526C>G (p.Ser509Cys) c.1499C>G (p.Ser500Cys) c.1850C>G (p.Ser617Cys) | |
2 | g.162435326G>T | CA349220928 | KCNH7 | c.1826C>A (p.Ser609Tyr) c.1805C>A (p.Ser602Tyr) c.1526C>A (p.Ser509Tyr) c.1499C>A (p.Ser500Tyr) c.1850C>A (p.Ser617Tyr) | |
2 | g.162435327A>C | CA349220930 | KCNH7 | c.1825T>G (p.Ser609Ala) c.1804T>G (p.Ser602Ala) c.1525T>G (p.Ser509Ala) c.1498T>G (p.Ser500Ala) c.1849T>G (p.Ser617Ala) | |
2 | g.162435327A>G | CA349220931 | KCNH7 | c.1825T>C (p.Ser609Pro) c.1804T>C (p.Ser602Pro) c.1525T>C (p.Ser509Pro) c.1498T>C (p.Ser500Pro) c.1849T>C (p.Ser617Pro) | |
2 | g.162435327A>T | CA349220932 | KCNH7 | c.1825T>A (p.Ser609Thr) c.1804T>A (p.Ser602Thr) c.1525T>A (p.Ser509Thr) c.1498T>A (p.Ser500Thr) c.1849T>A (p.Ser617Thr) | |
2 | g.162435328T>A | CA429731706 | KCNH7 | c.1824A>T (p.Pro608=) c.1803A>T (p.Pro601=) c.1524A>T (p.Pro508=) c.1497A>T (p.Pro499=) c.1848A>T (p.Pro616=) | |
2 | g.162435328T>C | CA429731708 | KCNH7 | c.1824A>G (p.Pro608=) c.1803A>G (p.Pro601=) c.1524A>G (p.Pro508=) c.1497A>G (p.Pro499=) c.1848A>G (p.Pro616=) | |
2 | g.162435328T>G | CA429731710 | KCNH7 | c.1824A>C (p.Pro608=) c.1803A>C (p.Pro601=) c.1524A>C (p.Pro508=) c.1497A>C (p.Pro499=) c.1848A>C (p.Pro616=) | |
2 | g.162435329G>A | CA1935620 | KCNH7 | c.1823C>T (p.Pro608Leu) c.1802C>T (p.Pro601Leu) c.1523C>T (p.Pro508Leu) c.1496C>T (p.Pro499Leu) c.1847C>T (p.Pro616Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162435329G>C | CA349220933 | KCNH7 | c.1823C>G (p.Pro608Arg) c.1802C>G (p.Pro601Arg) c.1523C>G (p.Pro508Arg) c.1496C>G (p.Pro499Arg) c.1847C>G (p.Pro616Arg) | |
2 | g.162435329G= | CA1303221256 | KCNH7 | c.1823C= (p.Pro608=) c.1802C= (p.Pro601=) c.1523C= (p.Pro508=) c.1496C= (p.Pro499=) c.1847C= (p.Pro616=) | |
2 | g.162435329G>T | CA349220934 | KCNH7 | c.1823C>A (p.Pro608Gln) c.1802C>A (p.Pro601Gln) c.1523C>A (p.Pro508Gln) c.1496C>A (p.Pro499Gln) c.1847C>A (p.Pro616Gln) | |
2 | g.162435330G>A | CA349220935 | KCNH7 | c.1822C>T (p.Pro608Ser) c.1801C>T (p.Pro601Ser) c.1522C>T (p.Pro508Ser) c.1495C>T (p.Pro499Ser) c.1846C>T (p.Pro616Ser) | |
2 | g.162435330G>C | CA349220936 | KCNH7 | c.1822C>G (p.Pro608Ala) c.1801C>G (p.Pro601Ala) c.1522C>G (p.Pro508Ala) c.1495C>G (p.Pro499Ala) c.1846C>G (p.Pro616Ala) | |
2 | g.162435330G>T | CA349220937 | KCNH7 | c.1822C>A (p.Pro608Thr) c.1801C>A (p.Pro601Thr) c.1522C>A (p.Pro508Thr) c.1495C>A (p.Pro499Thr) c.1846C>A (p.Pro616Thr) | |
2 | g.162435331T>A | CA429731713 | KCNH7 | c.1821A>T (p.Gly607=) c.1800A>T (p.Gly600=) c.1521A>T (p.Gly507=) c.1494A>T (p.Gly498=) c.1845A>T (p.Gly615=) | |
2 | g.162435331T>C | CA429731715 | KCNH7 | c.1821A>G (p.Gly607=) c.1800A>G (p.Gly600=) c.1521A>G (p.Gly507=) c.1494A>G (p.Gly498=) c.1845A>G (p.Gly615=) | |
2 | g.162435331T>G | CA1935621 | KCNH7 | c.1821A>C (p.Gly607=) c.1800A>C (p.Gly600=) c.1521A>C (p.Gly507=) c.1494A>C (p.Gly498=) c.1845A>C (p.Gly615=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162435331T= | CA1303221259 | KCNH7 | c.1821A= (p.Gly607=) c.1800A= (p.Gly600=) c.1521A= (p.Gly507=) c.1494A= (p.Gly498=) c.1845A= (p.Gly615=) | |
2 | g.162435332C>A | CA349220940 | KCNH7 | c.1820G>T (p.Gly607Val) c.1799G>T (p.Gly600Val) c.1520G>T (p.Gly507Val) c.1493G>T (p.Gly498Val) c.1844G>T (p.Gly615Val) | |
2 | g.162435332C= | CA1303221263 | KCNH7 | c.1820G= (p.Gly607=) c.1799G= (p.Gly600=) c.1520G= (p.Gly507=) c.1493G= (p.Gly498=) c.1844G= (p.Gly615=) | |
2 | g.162435332C>G | CA349220939 | KCNH7 | c.1820G>C (p.Gly607Ala) c.1799G>C (p.Gly600Ala) c.1520G>C (p.Gly507Ala) c.1493G>C (p.Gly498Ala) c.1844G>C (p.Gly615Ala) | dbSNP gnomAD v2 |
2 | g.162435332C>T | CA349220938 | KCNH7 | c.1820G>A (p.Gly607Glu) c.1799G>A (p.Gly600Glu) c.1520G>A (p.Gly507Glu) c.1493G>A (p.Gly498Glu) c.1844G>A (p.Gly615Glu) | |
2 | g.162435333C>A | CA349220941 | KCNH7 | c.1819G>T (p.Gly607Ter) c.1798G>T (p.Gly600Ter) c.1519G>T (p.Gly507Ter) c.1492G>T (p.Gly498Ter) c.1843G>T (p.Gly615Ter) | |
2 | g.162435333C>G | CA349220942 | KCNH7 | c.1819G>C (p.Gly607Arg) c.1798G>C (p.Gly600Arg) c.1519G>C (p.Gly507Arg) c.1492G>C (p.Gly498Arg) c.1843G>C (p.Gly615Arg) | |
2 | g.162435333C>T | CA349220943 | KCNH7 | c.1819G>A (p.Gly607Arg) c.1798G>A (p.Gly600Arg) c.1519G>A (p.Gly507Arg) c.1492G>A (p.Gly498Arg) c.1843G>A (p.Gly615Arg) | |
2 | g.162435334A= | CA1303221268 | KCNH7 | c.1818T= (p.Ser606=) c.1797T= (p.Ser599=) c.1518T= (p.Ser506=) c.1491T= (p.Ser497=) c.1842T= (p.Ser614=) | |
2 | g.162435334A>C | CA429731716 | KCNH7 | c.1818T>G (p.Ser606=) c.1797T>G (p.Ser599=) c.1518T>G (p.Ser506=) c.1491T>G (p.Ser497=) c.1842T>G (p.Ser614=) | |
2 | g.162435334A>G | CA429731717 | KCNH7 | c.1818T>C (p.Ser606=) c.1797T>C (p.Ser599=) c.1518T>C (p.Ser506=) c.1491T>C (p.Ser497=) c.1842T>C (p.Ser614=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162435334A>T | CA429731718 | KCNH7 | c.1818T>A (p.Ser606=) c.1797T>A (p.Ser599=) c.1518T>A (p.Ser506=) c.1491T>A (p.Ser497=) c.1842T>A (p.Ser614=) | |
2 | g.162435335G>A | CA349220944 | KCNH7 | c.1817C>T (p.Ser606Phe) c.1796C>T (p.Ser599Phe) c.1517C>T (p.Ser506Phe) c.1490C>T (p.Ser497Phe) c.1841C>T (p.Ser614Phe) | |
2 | g.162435335G>C | CA349220945 | KCNH7 | c.1817C>G (p.Ser606Cys) c.1796C>G (p.Ser599Cys) c.1517C>G (p.Ser506Cys) c.1490C>G (p.Ser497Cys) c.1841C>G (p.Ser614Cys) | |
2 | g.162435335G>T | CA349220946 | KCNH7 | c.1817C>A (p.Ser606Tyr) c.1796C>A (p.Ser599Tyr) c.1517C>A (p.Ser506Tyr) c.1490C>A (p.Ser497Tyr) c.1841C>A (p.Ser614Tyr) | |
2 | g.162435336A>C | CA349220947 | KCNH7 | c.1816T>G (p.Ser606Ala) c.1795T>G (p.Ser599Ala) c.1516T>G (p.Ser506Ala) c.1489T>G (p.Ser497Ala) c.1840T>G (p.Ser614Ala) | |
2 | g.162435336A>G | CA349220948 | KCNH7 | c.1816T>C (p.Ser606Pro) c.1795T>C (p.Ser599Pro) c.1516T>C (p.Ser506Pro) c.1489T>C (p.Ser497Pro) c.1840T>C (p.Ser614Pro) | |
2 | g.162435336A>T | CA349220949 | KCNH7 | c.1816T>A (p.Ser606Thr) c.1795T>A (p.Ser599Thr) c.1516T>A (p.Ser506Thr) c.1489T>A (p.Ser497Thr) c.1840T>A (p.Ser614Thr) | |
2 | g.162435337A>C | CA349220950 | KCNH7 | c.1815T>G (p.Ser605Arg) c.1794T>G (p.Ser598Arg) c.1515T>G (p.Ser505Arg) c.1488T>G (p.Ser496Arg) c.1839T>G (p.Ser613Arg) | |
2 | g.162435337A>G | CA429731719 | KCNH7 | c.1815T>C (p.Ser605=) c.1794T>C (p.Ser598=) c.1515T>C (p.Ser505=) c.1488T>C (p.Ser496=) c.1839T>C (p.Ser613=) | |
2 | g.162435337A>T | CA349220951 | KCNH7 | c.1815T>A (p.Ser605Arg) c.1794T>A (p.Ser598Arg) c.1515T>A (p.Ser505Arg) c.1488T>A (p.Ser496Arg) c.1839T>A (p.Ser613Arg) | |
2 | g.162435338C>A | CA349220953 | KCNH7 | c.1814G>T (p.Ser605Ile) c.1793G>T (p.Ser598Ile) c.1514G>T (p.Ser505Ile) c.1487G>T (p.Ser496Ile) c.1838G>T (p.Ser613Ile) | |
2 | g.162435338C>G | CA349220954 | KCNH7 | c.1814G>C (p.Ser605Thr) c.1793G>C (p.Ser598Thr) c.1514G>C (p.Ser505Thr) c.1487G>C (p.Ser496Thr) c.1838G>C (p.Ser613Thr) | |
2 | g.162435338C>T | CA349220952 | KCNH7 | c.1814G>A (p.Ser605Asn) c.1793G>A (p.Ser598Asn) c.1514G>A (p.Ser505Asn) c.1487G>A (p.Ser496Asn) c.1838G>A (p.Ser613Asn) | gnomAD v4 |
2 | g.162435339T>A | CA349220955 | KCNH7 | c.1813A>T (p.Ser605Cys) c.1792A>T (p.Ser598Cys) c.1513A>T (p.Ser505Cys) c.1486A>T (p.Ser496Cys) c.1837A>T (p.Ser613Cys) | |
2 | g.162435339T>C | CA349220956 | KCNH7 | c.1813A>G (p.Ser605Gly) c.1792A>G (p.Ser598Gly) c.1513A>G (p.Ser505Gly) c.1486A>G (p.Ser496Gly) c.1837A>G (p.Ser613Gly) | |
2 | g.162435339T>G | CA349220957 | KCNH7 | c.1813A>C (p.Ser605Arg) c.1792A>C (p.Ser598Arg) c.1513A>C (p.Ser505Arg) c.1486A>C (p.Ser496Arg) c.1837A>C (p.Ser613Arg) | |
2 | g.162435340T>A | CA429731720 | KCNH7 | c.1812A>T (p.Ser604=) c.1791A>T (p.Ser597=) c.1512A>T (p.Ser504=) c.1485A>T (p.Ser495=) c.1836A>T (p.Ser612=) | |
2 | g.162435340T>C | CA1935622 | KCNH7 | c.1812A>G (p.Ser604=) c.1791A>G (p.Ser597=) c.1512A>G (p.Ser504=) c.1485A>G (p.Ser495=) c.1836A>G (p.Ser612=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162435340T>G | CA429731721 | KCNH7 | c.1812A>C (p.Ser604=) c.1791A>C (p.Ser597=) c.1512A>C (p.Ser504=) c.1485A>C (p.Ser495=) c.1836A>C (p.Ser612=) | gnomAD v4 |
2 | g.162435340T= | CA1303221272 | KCNH7 | c.1812A= (p.Ser604=) c.1791A= (p.Ser597=) c.1512A= (p.Ser504=) c.1485A= (p.Ser495=) c.1836A= (p.Ser612=) | |
2 | g.162435341G>A | CA349220958 | KCNH7 | c.1811C>T (p.Ser604Leu) c.1790C>T (p.Ser597Leu) c.1511C>T (p.Ser504Leu) c.1484C>T (p.Ser495Leu) c.1835C>T (p.Ser612Leu) | |
2 | g.162435341G>C | CA349220959 | KCNH7 | c.1811C>G (p.Ser604Ter) c.1790C>G (p.Ser597Ter) c.1511C>G (p.Ser504Ter) c.1484C>G (p.Ser495Ter) c.1835C>G (p.Ser612Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162435341G= | CA1303221279 | KCNH7 | c.1811C= (p.Ser604=) c.1790C= (p.Ser597=) c.1511C= (p.Ser504=) c.1484C= (p.Ser495=) c.1835C= (p.Ser612=) | |
2 | g.162435341G>T | CA349220960 | KCNH7 | c.1811C>A (p.Ser604Ter) c.1790C>A (p.Ser597Ter) c.1511C>A (p.Ser504Ter) c.1484C>A (p.Ser495Ter) c.1835C>A (p.Ser612Ter) | |
2 | g.162435342A= | CA1303221284 | KCNH7 | c.1810T= (p.Ser604=) c.1789T= (p.Ser597=) c.1510T= (p.Ser504=) c.1483T= (p.Ser495=) c.1834T= (p.Ser612=) | |
2 | g.162435342A>C | CA1935623 | KCNH7 | c.1810T>G (p.Ser604Ala) c.1789T>G (p.Ser597Ala) c.1510T>G (p.Ser504Ala) c.1483T>G (p.Ser495Ala) c.1834T>G (p.Ser612Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162435342A>G | CA349220961 | KCNH7 | c.1810T>C (p.Ser604Pro) c.1789T>C (p.Ser597Pro) c.1510T>C (p.Ser504Pro) c.1483T>C (p.Ser495Pro) c.1834T>C (p.Ser612Pro) | |
2 | g.162435342A>T | CA349220962 | KCNH7 | c.1810T>A (p.Ser604Thr) c.1789T>A (p.Ser597Thr) c.1510T>A (p.Ser504Thr) c.1483T>A (p.Ser495Thr) c.1834T>A (p.Ser612Thr) | |
2 | g.162435343G>A | CA429731722 | KCNH7 | c.1809C>T (p.Asp603=) c.1788C>T (p.Asp596=) c.1509C>T (p.Asp503=) c.1482C>T (p.Asp494=) c.1833C>T (p.Asp611=) | |
2 | g.162435343G>C | CA349220963 | KCNH7 | c.1809C>G (p.Asp603Glu) c.1788C>G (p.Asp596Glu) c.1509C>G (p.Asp503Glu) c.1482C>G (p.Asp494Glu) c.1833C>G (p.Asp611Glu) | |
2 | g.162435343G>T | CA349220964 | KCNH7 | c.1809C>A (p.Asp603Glu) c.1788C>A (p.Asp596Glu) c.1509C>A (p.Asp503Glu) c.1482C>A (p.Asp494Glu) c.1833C>A (p.Asp611Glu) | |
2 | g.162435344T>A | CA349220966 | KCNH7 | c.1808A>T (p.Asp603Val) c.1787A>T (p.Asp596Val) c.1508A>T (p.Asp503Val) c.1481A>T (p.Asp494Val) c.1832A>T (p.Asp611Val) | COSMIC COSMIC |
2 | g.162435344T>C | CA349220967 | KCNH7 | c.1808A>G (p.Asp603Gly) c.1787A>G (p.Asp596Gly) c.1508A>G (p.Asp503Gly) c.1481A>G (p.Asp494Gly) c.1832A>G (p.Asp611Gly) | |
2 | g.162435344T>G | CA349220965 | KCNH7 | c.1808A>C (p.Asp603Ala) c.1787A>C (p.Asp596Ala) c.1508A>C (p.Asp503Ala) c.1481A>C (p.Asp494Ala) c.1832A>C (p.Asp611Ala) | |
2 | g.162435345C>A | CA349220968 | KCNH7 | c.1807G>T (p.Asp603Tyr) c.1786G>T (p.Asp596Tyr) c.1507G>T (p.Asp503Tyr) c.1480G>T (p.Asp494Tyr) c.1831G>T (p.Asp611Tyr) | |
2 | g.162435345C>G | CA349220969 | KCNH7 | c.1807G>C (p.Asp603His) c.1786G>C (p.Asp596His) c.1507G>C (p.Asp503His) c.1480G>C (p.Asp494His) c.1831G>C (p.Asp611His) | |
2 | g.162435345C>T | CA349220970 | KCNH7 | c.1807G>A (p.Asp603Asn) c.1786G>A (p.Asp596Asn) c.1507G>A (p.Asp503Asn) c.1480G>A (p.Asp494Asn) c.1831G>A (p.Asp611Asn) | COSMIC COSMIC |
2 | g.162435346A>C | CA349220971 | KCNH7 | c.1806T>G (p.Ser602Arg) c.1785T>G (p.Ser595Arg) c.1506T>G (p.Ser502Arg) c.1479T>G (p.Ser493Arg) c.1830T>G (p.Ser610Arg) | |
2 | g.162435346A>G | CA429731723 | KCNH7 | c.1806T>C (p.Ser602=) c.1785T>C (p.Ser595=) c.1506T>C (p.Ser502=) c.1479T>C (p.Ser493=) c.1830T>C (p.Ser610=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.162435346A>T | CA349220972 | KCNH7 | c.1806T>A (p.Ser602Arg) c.1785T>A (p.Ser595Arg) c.1506T>A (p.Ser502Arg) c.1479T>A (p.Ser493Arg) c.1830T>A (p.Ser610Arg) | gnomAD v4 |
2 | g.162435347C>A | CA349220974 | KCNH7 | c.1805G>T (p.Ser602Ile) c.1784G>T (p.Ser595Ile) c.1505G>T (p.Ser502Ile) c.1478G>T (p.Ser493Ile) c.1829G>T (p.Ser610Ile) | |
2 | g.162435347C= | CA1303221286 | KCNH7 | c.1805G= (p.Ser602=) c.1784G= (p.Ser595=) c.1505G= (p.Ser502=) c.1478G= (p.Ser493=) c.1829G= (p.Ser610=) | |
2 | g.162435347C>G | CA349220973 | KCNH7 | c.1805G>C (p.Ser602Thr) c.1784G>C (p.Ser595Thr) c.1505G>C (p.Ser502Thr) c.1478G>C (p.Ser493Thr) c.1829G>C (p.Ser610Thr) | |
2 | g.162435347C>T | CA1935624 | KCNH7 | c.1805G>A (p.Ser602Asn) c.1784G>A (p.Ser595Asn) c.1505G>A (p.Ser502Asn) c.1478G>A (p.Ser493Asn) c.1829G>A (p.Ser610Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162435348T>A | CA349220975 | KCNH7 | c.1804A>T (p.Ser602Cys) c.1783A>T (p.Ser595Cys) c.1504A>T (p.Ser502Cys) c.1477A>T (p.Ser493Cys) c.1828A>T (p.Ser610Cys) | |
2 | g.162435348T>C | CA349220976 | KCNH7 | c.1804A>G (p.Ser602Gly) c.1783A>G (p.Ser595Gly) c.1504A>G (p.Ser502Gly) c.1477A>G (p.Ser493Gly) c.1828A>G (p.Ser610Gly) | |
2 | g.162435348T>G | CA1935625 | KCNH7 | c.1804A>C (p.Ser602Arg) c.1783A>C (p.Ser595Arg) c.1504A>C (p.Ser502Arg) c.1477A>C (p.Ser493Arg) c.1828A>C (p.Ser610Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162435348T= | CA1303221289 | KCNH7 | c.1804A= (p.Ser602=) c.1783A= (p.Ser595=) c.1504A= (p.Ser502=) c.1477A= (p.Ser493=) c.1828A= (p.Ser610=) | |
2 | g.162435349G>A | CA429731724 | KCNH7 | c.1803C>T (p.Asp601=) c.1782C>T (p.Asp594=) c.1503C>T (p.Asp501=) c.1476C>T (p.Asp492=) c.1827C>T (p.Asp609=) | |
2 | g.162435349G>C | CA349220977 | KCNH7 | c.1803C>G (p.Asp601Glu) c.1782C>G (p.Asp594Glu) c.1503C>G (p.Asp501Glu) c.1476C>G (p.Asp492Glu) c.1827C>G (p.Asp609Glu) | |
2 | g.162435349G>T | CA349220978 | KCNH7 | c.1803C>A (p.Asp601Glu) c.1782C>A (p.Asp594Glu) c.1503C>A (p.Asp501Glu) c.1476C>A (p.Asp492Glu) c.1827C>A (p.Asp609Glu) | |
2 | g.162435350T>A | CA349220981 | KCNH7 | c.1802A>T (p.Asp601Val) c.1781A>T (p.Asp594Val) c.1502A>T (p.Asp501Val) c.1475A>T (p.Asp492Val) c.1826A>T (p.Asp609Val) | |
2 | g.162435350T>C | CA349220980 | KCNH7 | c.1802A>G (p.Asp601Gly) c.1781A>G (p.Asp594Gly) c.1502A>G (p.Asp501Gly) c.1475A>G (p.Asp492Gly) c.1826A>G (p.Asp609Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.162435350T>G | CA349220979 | KCNH7 | c.1802A>C (p.Asp601Ala) c.1781A>C (p.Asp594Ala) c.1502A>C (p.Asp501Ala) c.1475A>C (p.Asp492Ala) c.1826A>C (p.Asp609Ala) | |
2 | g.162435350T= | CA1303221294 | KCNH7 | c.1802A= (p.Asp601=) c.1781A= (p.Asp594=) c.1502A= (p.Asp501=) c.1475A= (p.Asp492=) c.1826A= (p.Asp609=) | |
2 | g.162435351C>A | CA349220982 | KCNH7 | c.1801G>T (p.Asp601Tyr) c.1780G>T (p.Asp594Tyr) c.1501G>T (p.Asp501Tyr) c.1474G>T (p.Asp492Tyr) c.1825G>T (p.Asp609Tyr) | |
2 | g.162435351C= | CA1303221298 | KCNH7 | c.1801G= (p.Asp601=) c.1780G= (p.Asp594=) c.1501G= (p.Asp501=) c.1474G= (p.Asp492=) c.1825G= (p.Asp609=) | |
2 | g.162435351C>G | CA349220984 | KCNH7 | c.1801G>C (p.Asp601His) c.1780G>C (p.Asp594His) c.1501G>C (p.Asp501His) c.1474G>C (p.Asp492His) c.1825G>C (p.Asp609His) | |
2 | g.162435351C>T | CA349220983 | KCNH7 | c.1801G>A (p.Asp601Asn) c.1780G>A (p.Asp594Asn) c.1501G>A (p.Asp501Asn) c.1474G>A (p.Asp492Asn) c.1825G>A (p.Asp609Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.162435352A= | CA1303221301 | KCNH7 | c.1800T= (p.Asn600=) c.1779T= (p.Asn593=) c.1500T= (p.Asn500=) c.1473T= (p.Asn491=) c.1824T= (p.Asn608=) | |
2 | g.162435352A>C | CA1935626 | KCNH7 | c.1800T>G (p.Asn600Lys) c.1779T>G (p.Asn593Lys) c.1500T>G (p.Asn500Lys) c.1473T>G (p.Asn491Lys) c.1824T>G (p.Asn608Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162435352A>G | CA429731725 | KCNH7 | c.1800T>C (p.Asn600=) c.1779T>C (p.Asn593=) c.1500T>C (p.Asn500=) c.1473T>C (p.Asn491=) c.1824T>C (p.Asn608=) | |
2 | g.162435352A>T | CA349220985 | KCNH7 | c.1800T>A (p.Asn600Lys) c.1779T>A (p.Asn593Lys) c.1500T>A (p.Asn500Lys) c.1473T>A (p.Asn491Lys) c.1824T>A (p.Asn608Lys) | |
2 | g.162435353T>A | CA1935627 | KCNH7 | c.1799A>T (p.Asn600Ile) c.1778A>T (p.Asn593Ile) c.1499A>T (p.Asn500Ile) c.1472A>T (p.Asn491Ile) c.1823A>T (p.Asn608Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162435353T>C | CA349220986 | KCNH7 | c.1799A>G (p.Asn600Ser) c.1778A>G (p.Asn593Ser) c.1499A>G (p.Asn500Ser) c.1472A>G (p.Asn491Ser) c.1823A>G (p.Asn608Ser) | |
2 | g.162435353T>G | CA349220987 | KCNH7 | c.1799A>C (p.Asn600Thr) c.1778A>C (p.Asn593Thr) c.1499A>C (p.Asn500Thr) c.1472A>C (p.Asn491Thr) c.1823A>C (p.Asn608Thr) | |
2 | g.162435353T= | CA1303221304 | KCNH7 | c.1799A= (p.Asn600=) c.1778A= (p.Asn593=) c.1499A= (p.Asn500=) c.1472A= (p.Asn491=) c.1823A= (p.Asn608=) | |
2 | g.162435354T>A | CA349220988 | KCNH7 | c.1798A>T (p.Asn600Tyr) c.1777A>T (p.Asn593Tyr) c.1498A>T (p.Asn500Tyr) c.1471A>T (p.Asn491Tyr) c.1822A>T (p.Asn608Tyr) | |
2 | g.162435354T>C | CA349220989 | KCNH7 | c.1798A>G (p.Asn600Asp) c.1777A>G (p.Asn593Asp) c.1498A>G (p.Asn500Asp) c.1471A>G (p.Asn491Asp) c.1822A>G (p.Asn608Asp) | gnomAD v4 |
2 | g.162435354T>G | CA349220990 | KCNH7 | c.1798A>C (p.Asn600His) c.1777A>C (p.Asn593His) c.1498A>C (p.Asn500His) c.1471A>C (p.Asn491His) c.1822A>C (p.Asn608His) | |
2 | g.162435355G>A | CA1935628 | KCNH7 | c.1797C>T (p.Tyr599=) c.1776C>T (p.Tyr592=) c.1497C>T (p.Tyr499=) c.1470C>T (p.Tyr490=) c.1821C>T (p.Tyr607=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162435355G>C | CA349220991 | KCNH7 | c.1797C>G (p.Tyr599Ter) c.1776C>G (p.Tyr592Ter) c.1497C>G (p.Tyr499Ter) c.1470C>G (p.Tyr490Ter) c.1821C>G (p.Tyr607Ter) | |
2 | g.162435355G= | CA1303221306 | KCNH7 | c.1797C= (p.Tyr599=) c.1776C= (p.Tyr592=) c.1497C= (p.Tyr499=) c.1470C= (p.Tyr490=) c.1821C= (p.Tyr607=) | |
2 | g.162435355G>T | CA349220992 | KCNH7 | c.1797C>A (p.Tyr599Ter) c.1776C>A (p.Tyr592Ter) c.1497C>A (p.Tyr499Ter) c.1470C>A (p.Tyr490Ter) c.1821C>A (p.Tyr607Ter) | |
2 | g.162435356T>A | CA349220995 | KCNH7 | c.1796A>T (p.Tyr599Phe) c.1775A>T (p.Tyr592Phe) c.1496A>T (p.Tyr499Phe) c.1469A>T (p.Tyr490Phe) c.1820A>T (p.Tyr607Phe) | dbSNP |
2 | g.162435356T>C | CA349220993 | KCNH7 | c.1796A>G (p.Tyr599Cys) c.1775A>G (p.Tyr592Cys) c.1496A>G (p.Tyr499Cys) c.1469A>G (p.Tyr490Cys) c.1820A>G (p.Tyr607Cys) | gnomAD v4 |
2 | g.162435356T>G | CA349220994 | KCNH7 | c.1796A>C (p.Tyr599Ser) c.1775A>C (p.Tyr592Ser) c.1496A>C (p.Tyr499Ser) c.1469A>C (p.Tyr490Ser) c.1820A>C (p.Tyr607Ser) | |
2 | g.162435356T= | CA1303221309 | KCNH7 | c.1796A= (p.Tyr599=) c.1775A= (p.Tyr592=) c.1496A= (p.Tyr499=) c.1469A= (p.Tyr490=) c.1820A= (p.Tyr607=) | |
2 | g.162435357A>C | CA349220996 | KCNH7 | c.1795T>G (p.Tyr599Asp) c.1774T>G (p.Tyr592Asp) c.1495T>G (p.Tyr499Asp) c.1468T>G (p.Tyr490Asp) c.1819T>G (p.Tyr607Asp) | |
2 | g.162435357A>G | CA349220997 | KCNH7 | c.1795T>C (p.Tyr599His) c.1774T>C (p.Tyr592His) c.1495T>C (p.Tyr499His) c.1468T>C (p.Tyr490His) c.1819T>C (p.Tyr607His) | |
2 | g.162435357A>T | CA349220998 | KCNH7 | c.1795T>A (p.Tyr599Asn) c.1774T>A (p.Tyr592Asn) c.1495T>A (p.Tyr499Asn) c.1468T>A (p.Tyr490Asn) c.1819T>A (p.Tyr607Asn) | |
2 | g.162435358A>C | CA429731726 | KCNH7 | c.1794T>G (p.Arg598=) c.1773T>G (p.Arg591=) c.1494T>G (p.Arg498=) c.1467T>G (p.Arg489=) c.1818T>G (p.Arg606=) | |
2 | g.162435358A>G | CA429731727 | KCNH7 | c.1794T>C (p.Arg598=) c.1773T>C (p.Arg591=) c.1494T>C (p.Arg498=) c.1467T>C (p.Arg489=) c.1818T>C (p.Arg606=) | |
2 | g.162435358A>T | CA429731728 | KCNH7 | c.1794T>A (p.Arg598=) c.1773T>A (p.Arg591=) c.1494T>A (p.Arg498=) c.1467T>A (p.Arg489=) c.1818T>A (p.Arg606=) | |
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=) |