Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.162435229T>A | CA349220705 | KCNH7 | c.1923A>T (p.Lys641Asn) c.1902A>T (p.Lys634Asn) c.1623A>T (p.Lys541Asn) c.1596A>T (p.Lys532Asn) c.1947A>T (p.Lys649Asn) | |
2 | g.162435229T>C | CA429731573 | KCNH7 | c.1923A>G (p.Lys641=) c.1902A>G (p.Lys634=) c.1623A>G (p.Lys541=) c.1596A>G (p.Lys532=) c.1947A>G (p.Lys649=) | dbSNP gnomAD v4 |
2 | g.162435229T>G | CA349220706 | KCNH7 | c.1923A>C (p.Lys641Asn) c.1902A>C (p.Lys634Asn) c.1623A>C (p.Lys541Asn) c.1596A>C (p.Lys532Asn) c.1947A>C (p.Lys649Asn) | |
2 | g.162435229T= | CA1303221192 | KCNH7 | c.1923A= (p.Lys641=) c.1902A= (p.Lys634=) c.1623A= (p.Lys541=) c.1596A= (p.Lys532=) c.1947A= (p.Lys649=) | |
2 | g.162435230T>A | CA349220708 | KCNH7 | c.1922A>T (p.Lys641Ile) c.1901A>T (p.Lys634Ile) c.1622A>T (p.Lys541Ile) c.1595A>T (p.Lys532Ile) c.1946A>T (p.Lys649Ile) | |
2 | g.162435230T>C | CA349220709 | KCNH7 | c.1922A>G (p.Lys641Arg) c.1901A>G (p.Lys634Arg) c.1622A>G (p.Lys541Arg) c.1595A>G (p.Lys532Arg) c.1946A>G (p.Lys649Arg) | |
2 | g.162435230T>G | CA349220707 | KCNH7 | c.1922A>C (p.Lys641Thr) c.1901A>C (p.Lys634Thr) c.1622A>C (p.Lys541Thr) c.1595A>C (p.Lys532Thr) c.1946A>C (p.Lys649Thr) | |
2 | g.162435231T>A | CA349220710 | KCNH7 | c.1921A>T (p.Lys641Ter) c.1900A>T (p.Lys634Ter) c.1621A>T (p.Lys541Ter) c.1594A>T (p.Lys532Ter) c.1945A>T (p.Lys649Ter) | |
2 | g.162435231T>C | CA349220711 | KCNH7 | c.1921A>G (p.Lys641Glu) c.1900A>G (p.Lys634Glu) c.1621A>G (p.Lys541Glu) c.1594A>G (p.Lys532Glu) c.1945A>G (p.Lys649Glu) | |
2 | g.162435231T>G | CA349220712 | KCNH7 | c.1921A>C (p.Lys641Gln) c.1900A>C (p.Lys634Gln) c.1621A>C (p.Lys541Gln) c.1594A>C (p.Lys532Gln) c.1945A>C (p.Lys649Gln) | |
2 | g.162435232C>A | CA349220713 | KCNH7 | c.1920G>T (p.Glu640Asp) c.1899G>T (p.Glu633Asp) c.1620G>T (p.Glu540Asp) c.1593G>T (p.Glu531Asp) c.1944G>T (p.Glu648Asp) | |
2 | g.162435232C>G | CA349220714 | KCNH7 | c.1920G>C (p.Glu640Asp) c.1899G>C (p.Glu633Asp) c.1620G>C (p.Glu540Asp) c.1593G>C (p.Glu531Asp) c.1944G>C (p.Glu648Asp) | |
2 | g.162435232C>T | CA429731574 | KCNH7 | c.1920G>A (p.Glu640=) c.1899G>A (p.Glu633=) c.1620G>A (p.Glu540=) c.1593G>A (p.Glu531=) c.1944G>A (p.Glu648=) | |
2 | g.162435233T>A | CA349220715 | KCNH7 | c.1919A>T (p.Glu640Val) c.1898A>T (p.Glu633Val) c.1619A>T (p.Glu540Val) c.1592A>T (p.Glu531Val) c.1943A>T (p.Glu648Val) | |
2 | g.162435233T>C | CA349220716 | KCNH7 | c.1919A>G (p.Glu640Gly) c.1898A>G (p.Glu633Gly) c.1619A>G (p.Glu540Gly) c.1592A>G (p.Glu531Gly) c.1943A>G (p.Glu648Gly) | |
2 | g.162435233T>G | CA349220717 | KCNH7 | c.1919A>C (p.Glu640Ala) c.1898A>C (p.Glu633Ala) c.1619A>C (p.Glu540Ala) c.1592A>C (p.Glu531Ala) c.1943A>C (p.Glu648Ala) | |
2 | g.162435234C>A | CA349220718 | KCNH7 | c.1918G>T (p.Glu640Ter) c.1897G>T (p.Glu633Ter) c.1618G>T (p.Glu540Ter) c.1591G>T (p.Glu531Ter) c.1942G>T (p.Glu648Ter) | |
2 | g.162435234C>G | CA349220719 | KCNH7 | c.1918G>C (p.Glu640Gln) c.1897G>C (p.Glu633Gln) c.1618G>C (p.Glu540Gln) c.1591G>C (p.Glu531Gln) c.1942G>C (p.Glu648Gln) | |
2 | g.162435234C>T | CA349220720 | KCNH7 | c.1918G>A (p.Glu640Lys) c.1897G>A (p.Glu633Lys) c.1618G>A (p.Glu540Lys) c.1591G>A (p.Glu531Lys) c.1942G>A (p.Glu648Lys) | COSMIC COSMIC |
2 | g.162435235C>A | CA429731575 | KCNH7 | c.1917G>T (p.Ser639=) c.1896G>T (p.Ser632=) c.1617G>T (p.Ser539=) c.1590G>T (p.Ser530=) c.1941G>T (p.Ser647=) | |
2 | g.162435235C= | CA1303221194 | KCNH7 | c.1917G= (p.Ser639=) c.1896G= (p.Ser632=) c.1617G= (p.Ser539=) c.1590G= (p.Ser530=) c.1941G= (p.Ser647=) | |
2 | g.162435235C>G | CA429731576 | KCNH7 | c.1917G>C (p.Ser639=) c.1896G>C (p.Ser632=) c.1617G>C (p.Ser539=) c.1590G>C (p.Ser530=) c.1941G>C (p.Ser647=) | |
2 | g.162435235C>T | CA1935611 | KCNH7 | c.1917G>A (p.Ser639=) c.1896G>A (p.Ser632=) c.1617G>A (p.Ser539=) c.1590G>A (p.Ser530=) c.1941G>A (p.Ser647=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162435236G>A | CA1935612 | KCNH7 | c.1916C>T (p.Ser639Leu) c.1895C>T (p.Ser632Leu) c.1616C>T (p.Ser539Leu) c.1589C>T (p.Ser530Leu) c.1940C>T (p.Ser647Leu) | dbSNP ExAC gnomAD v4 COSMIC COSMIC |
2 | g.162435236G>C | CA349220721 | KCNH7 | c.1916C>G (p.Ser639Trp) c.1895C>G (p.Ser632Trp) c.1616C>G (p.Ser539Trp) c.1589C>G (p.Ser530Trp) c.1940C>G (p.Ser647Trp) | dbSNP COSMIC COSMIC |
2 | g.162435236G= | CA1303221199 | KCNH7 | c.1916C= (p.Ser639=) c.1895C= (p.Ser632=) c.1616C= (p.Ser539=) c.1589C= (p.Ser530=) c.1940C= (p.Ser647=) | |
2 | g.162435236G>T | CA349220722 | KCNH7 | c.1916C>A (p.Ser639Ter) c.1895C>A (p.Ser632Ter) c.1616C>A (p.Ser539Ter) c.1589C>A (p.Ser530Ter) c.1940C>A (p.Ser647Ter) | |
2 | g.162435237A>C | CA349220723 | KCNH7 | c.1915T>G (p.Ser639Ala) c.1894T>G (p.Ser632Ala) c.1615T>G (p.Ser539Ala) c.1588T>G (p.Ser530Ala) c.1939T>G (p.Ser647Ala) | |
2 | g.162435237A>G | CA349220724 | KCNH7 | c.1915T>C (p.Ser639Pro) c.1894T>C (p.Ser632Pro) c.1615T>C (p.Ser539Pro) c.1588T>C (p.Ser530Pro) c.1939T>C (p.Ser647Pro) | |
2 | g.162435237A>T | CA349220725 | KCNH7 | c.1915T>A (p.Ser639Thr) c.1894T>A (p.Ser632Thr) c.1615T>A (p.Ser539Thr) c.1588T>A (p.Ser530Thr) c.1939T>A (p.Ser647Thr) | |
2 | g.162435238A= | CA1303221205 | KCNH7 | c.1914T= (p.Asn638=) c.1893T= (p.Asn631=) c.1614T= (p.Asn538=) c.1587T= (p.Asn529=) c.1938T= (p.Asn646=) | |
2 | g.162435238A>C | CA349220726 | KCNH7 | c.1914T>G (p.Asn638Lys) c.1893T>G (p.Asn631Lys) c.1614T>G (p.Asn538Lys) c.1587T>G (p.Asn529Lys) c.1938T>G (p.Asn646Lys) | |
2 | g.162435238A>G | CA1935613 | KCNH7 | c.1914T>C (p.Asn638=) c.1893T>C (p.Asn631=) c.1614T>C (p.Asn538=) c.1587T>C (p.Asn529=) c.1938T>C (p.Asn646=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162435238A>T | CA349220727 | KCNH7 | c.1914T>A (p.Asn638Lys) c.1893T>A (p.Asn631Lys) c.1614T>A (p.Asn538Lys) c.1587T>A (p.Asn529Lys) c.1938T>A (p.Asn646Lys) | |
2 | g.162435239T>A | CA349220728 | KCNH7 | c.1913A>T (p.Asn638Ile) c.1892A>T (p.Asn631Ile) c.1613A>T (p.Asn538Ile) c.1586A>T (p.Asn529Ile) c.1937A>T (p.Asn646Ile) | gnomAD v4 |
2 | g.162435239T>C | CA349220729 | KCNH7 | c.1913A>G (p.Asn638Ser) c.1892A>G (p.Asn631Ser) c.1613A>G (p.Asn538Ser) c.1586A>G (p.Asn529Ser) c.1937A>G (p.Asn646Ser) | |
2 | g.162435239T>G | CA349220730 | KCNH7 | c.1913A>C (p.Asn638Thr) c.1892A>C (p.Asn631Thr) c.1613A>C (p.Asn538Thr) c.1586A>C (p.Asn529Thr) c.1937A>C (p.Asn646Thr) | |
2 | g.162435240T>A | CA349220731 | KCNH7 | c.1912A>T (p.Asn638Tyr) c.1891A>T (p.Asn631Tyr) c.1612A>T (p.Asn538Tyr) c.1585A>T (p.Asn529Tyr) c.1936A>T (p.Asn646Tyr) | |
2 | g.162435240T>C | CA349220732 | KCNH7 | c.1912A>G (p.Asn638Asp) c.1891A>G (p.Asn631Asp) c.1612A>G (p.Asn538Asp) c.1585A>G (p.Asn529Asp) c.1936A>G (p.Asn646Asp) | |
2 | g.162435240T>G | CA349220733 | KCNH7 | c.1912A>C (p.Asn638His) c.1891A>C (p.Asn631His) c.1612A>C (p.Asn538His) c.1585A>C (p.Asn529His) c.1936A>C (p.Asn646His) | |
2 | g.162435241C>A | CA429731582 | KCNH7 | c.1911G>T (p.Thr637=) c.1890G>T (p.Thr630=) c.1611G>T (p.Thr537=) c.1584G>T (p.Thr528=) c.1935G>T (p.Thr645=) | |
2 | g.162435241C= | CA1303221209 | KCNH7 | c.1911G= (p.Thr637=) c.1890G= (p.Thr630=) c.1611G= (p.Thr537=) c.1584G= (p.Thr528=) c.1935G= (p.Thr645=) | |
2 | g.162435241C>G | CA429731585 | KCNH7 | c.1911G>C (p.Thr637=) c.1890G>C (p.Thr630=) c.1611G>C (p.Thr537=) c.1584G>C (p.Thr528=) c.1935G>C (p.Thr645=) | |
2 | g.162435241C>T | CA1935614 | KCNH7 | c.1911G>A (p.Thr637=) c.1890G>A (p.Thr630=) c.1611G>A (p.Thr537=) c.1584G>A (p.Thr528=) c.1935G>A (p.Thr645=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.162435242G>A | CA349220735 | KCNH7 | c.1910C>T (p.Thr637Met) c.1889C>T (p.Thr630Met) c.1610C>T (p.Thr537Met) c.1583C>T (p.Thr528Met) c.1934C>T (p.Thr645Met) | COSMIC COSMIC |
2 | g.162435242G>C | CA349220736 | KCNH7 | c.1910C>G (p.Thr637Arg) c.1889C>G (p.Thr630Arg) c.1610C>G (p.Thr537Arg) c.1583C>G (p.Thr528Arg) c.1934C>G (p.Thr645Arg) | |
2 | g.162435242G>T | CA349220734 | KCNH7 | c.1910C>A (p.Thr637Lys) c.1889C>A (p.Thr630Lys) c.1610C>A (p.Thr537Lys) c.1583C>A (p.Thr528Lys) c.1934C>A (p.Thr645Lys) | |
2 | g.162435243T>A | CA349220739 | KCNH7 | c.1909A>T (p.Thr637Ser) c.1888A>T (p.Thr630Ser) c.1609A>T (p.Thr537Ser) c.1582A>T (p.Thr528Ser) c.1933A>T (p.Thr645Ser) | |
2 | g.162435243T>C | CA349220737 | KCNH7 | c.1909A>G (p.Thr637Ala) c.1888A>G (p.Thr630Ala) c.1609A>G (p.Thr537Ala) c.1582A>G (p.Thr528Ala) c.1933A>G (p.Thr645Ala) | |
2 | g.162435243T>G | CA349220738 | KCNH7 | c.1909A>C (p.Thr637Pro) c.1888A>C (p.Thr630Pro) c.1609A>C (p.Thr537Pro) c.1582A>C (p.Thr528Pro) c.1933A>C (p.Thr645Pro) | |
2 | g.162435244G>A | CA1935615 | KCNH7 | c.1908C>T (p.Asn636=) c.1887C>T (p.Asn629=) c.1608C>T (p.Asn536=) c.1581C>T (p.Asn527=) c.1932C>T (p.Asn644=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162435244G>C | CA349220740 | KCNH7 | c.1908C>G (p.Asn636Lys) c.1887C>G (p.Asn629Lys) c.1608C>G (p.Asn536Lys) c.1581C>G (p.Asn527Lys) c.1932C>G (p.Asn644Lys) | |
2 | g.162435244G= | CA1303221213 | KCNH7 | c.1908C= (p.Asn636=) c.1887C= (p.Asn629=) c.1608C= (p.Asn536=) c.1581C= (p.Asn527=) c.1932C= (p.Asn644=) | |
2 | g.162435244G>T | CA349220741 | KCNH7 | c.1908C>A (p.Asn636Lys) c.1887C>A (p.Asn629Lys) c.1608C>A (p.Asn536Lys) c.1581C>A (p.Asn527Lys) c.1932C>A (p.Asn644Lys) | |
2 | g.162435245T>A | CA349220744 | KCNH7 | c.1907A>T (p.Asn636Ile) c.1886A>T (p.Asn629Ile) c.1607A>T (p.Asn536Ile) c.1580A>T (p.Asn527Ile) c.1931A>T (p.Asn644Ile) | |
2 | g.162435245T>C | CA349220743 | KCNH7 | c.1907A>G (p.Asn636Ser) c.1886A>G (p.Asn629Ser) c.1607A>G (p.Asn536Ser) c.1580A>G (p.Asn527Ser) c.1931A>G (p.Asn644Ser) | |
2 | g.162435245T>G | CA349220742 | KCNH7 | c.1907A>C (p.Asn636Thr) c.1886A>C (p.Asn629Thr) c.1607A>C (p.Asn536Thr) c.1580A>C (p.Asn527Thr) c.1931A>C (p.Asn644Thr) | |
2 | g.162435246T>A | CA349220745 | KCNH7 | c.1906A>T (p.Asn636Tyr) c.1885A>T (p.Asn629Tyr) c.1606A>T (p.Asn536Tyr) c.1579A>T (p.Asn527Tyr) c.1930A>T (p.Asn644Tyr) | |
2 | g.162435246T>C | CA349220746 | KCNH7 | c.1906A>G (p.Asn636Asp) c.1885A>G (p.Asn629Asp) c.1606A>G (p.Asn536Asp) c.1579A>G (p.Asn527Asp) c.1930A>G (p.Asn644Asp) | |
2 | g.162435246T>G | CA349220747 | KCNH7 | c.1906A>C (p.Asn636His) c.1885A>C (p.Asn629His) c.1606A>C (p.Asn536His) c.1579A>C (p.Asn527His) c.1930A>C (p.Asn644His) | |
2 | g.162435247A= | CA1303221216 | KCNH7 | c.1905T= (p.Pro635=) c.1884T= (p.Pro628=) c.1605T= (p.Pro535=) c.1578T= (p.Pro526=) c.1929T= (p.Pro643=) | |
2 | g.162435247A>C | CA429731591 | KCNH7 | c.1905T>G (p.Pro635=) c.1884T>G (p.Pro628=) c.1605T>G (p.Pro535=) c.1578T>G (p.Pro526=) c.1929T>G (p.Pro643=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.162435247A>G | CA429731593 | KCNH7 | c.1905T>C (p.Pro635=) c.1884T>C (p.Pro628=) c.1605T>C (p.Pro535=) c.1578T>C (p.Pro526=) c.1929T>C (p.Pro643=) | |
2 | g.162435247A>T | CA429731592 | KCNH7 | c.1905T>A (p.Pro635=) c.1884T>A (p.Pro628=) c.1605T>A (p.Pro535=) c.1578T>A (p.Pro526=) c.1929T>A (p.Pro643=) | |
2 | g.162435248G>A | CA349220748 | KCNH7 | c.1904C>T (p.Pro635Leu) c.1883C>T (p.Pro628Leu) c.1604C>T (p.Pro535Leu) c.1577C>T (p.Pro526Leu) c.1928C>T (p.Pro643Leu) | |
2 | g.162435248G>C | CA349220749 | KCNH7 | c.1904C>G (p.Pro635Arg) c.1883C>G (p.Pro628Arg) c.1604C>G (p.Pro535Arg) c.1577C>G (p.Pro526Arg) c.1928C>G (p.Pro643Arg) | |
2 | g.162435248G>T | CA349220750 | KCNH7 | c.1904C>A (p.Pro635His) c.1883C>A (p.Pro628His) c.1604C>A (p.Pro535His) c.1577C>A (p.Pro526His) c.1928C>A (p.Pro643His) | |
2 | g.162435249G>A | CA349220751 | KCNH7 | c.1903C>T (p.Pro635Ser) c.1882C>T (p.Pro628Ser) c.1603C>T (p.Pro535Ser) c.1576C>T (p.Pro526Ser) c.1927C>T (p.Pro643Ser) | |
2 | g.162435249G>C | CA349220753 | KCNH7 | c.1903C>G (p.Pro635Ala) c.1882C>G (p.Pro628Ala) c.1603C>G (p.Pro535Ala) c.1576C>G (p.Pro526Ala) c.1927C>G (p.Pro643Ala) | |
2 | g.162435249G>T | CA349220752 | KCNH7 | c.1903C>A (p.Pro635Thr) c.1882C>A (p.Pro628Thr) c.1603C>A (p.Pro535Thr) c.1576C>A (p.Pro526Thr) c.1927C>A (p.Pro643Thr) | |
2 | g.162435250A>C | CA429731595 | KCNH7 | c.1902T>G (p.Ser634=) c.1881T>G (p.Ser627=) c.1602T>G (p.Ser534=) c.1575T>G (p.Ser525=) c.1926T>G (p.Ser642=) | |
2 | g.162435250A>G | CA429731596 | KCNH7 | c.1902T>C (p.Ser634=) c.1881T>C (p.Ser627=) c.1602T>C (p.Ser534=) c.1575T>C (p.Ser525=) c.1926T>C (p.Ser642=) | |
2 | g.162435250A>T | CA429731597 | KCNH7 | c.1902T>A (p.Ser634=) c.1881T>A (p.Ser627=) c.1602T>A (p.Ser534=) c.1575T>A (p.Ser525=) c.1926T>A (p.Ser642=) | |
2 | g.162435251G>A | CA59809324 | KCNH7 | c.1901C>T (p.Ser634Phe) c.1880C>T (p.Ser627Phe) c.1601C>T (p.Ser534Phe) c.1574C>T (p.Ser525Phe) c.1925C>T (p.Ser642Phe) | dbSNP |
2 | g.162435251G>C | CA349220754 | KCNH7 | c.1901C>G (p.Ser634Cys) c.1880C>G (p.Ser627Cys) c.1601C>G (p.Ser534Cys) c.1574C>G (p.Ser525Cys) c.1925C>G (p.Ser642Cys) | |
2 | g.162435251G= | CA1303221221 | KCNH7 | c.1901C= (p.Ser634=) c.1880C= (p.Ser627=) c.1601C= (p.Ser534=) c.1574C= (p.Ser525=) c.1925C= (p.Ser642=) | |
2 | g.162435251G>T | CA349220755 | KCNH7 | c.1901C>A (p.Ser634Tyr) c.1880C>A (p.Ser627Tyr) c.1601C>A (p.Ser534Tyr) c.1574C>A (p.Ser525Tyr) c.1925C>A (p.Ser642Tyr) | |
2 | g.162435252A>C | CA349220756 | KCNH7 | c.1900T>G (p.Ser634Ala) c.1879T>G (p.Ser627Ala) c.1600T>G (p.Ser534Ala) c.1573T>G (p.Ser525Ala) c.1924T>G (p.Ser642Ala) | |
2 | g.162435252A>G | CA349220757 | KCNH7 | c.1900T>C (p.Ser634Pro) c.1879T>C (p.Ser627Pro) c.1600T>C (p.Ser534Pro) c.1573T>C (p.Ser525Pro) c.1924T>C (p.Ser642Pro) | |
2 | g.162435252A>T | CA349220758 | KCNH7 | c.1900T>A (p.Ser634Thr) c.1879T>A (p.Ser627Thr) c.1600T>A (p.Ser534Thr) c.1573T>A (p.Ser525Thr) c.1924T>A (p.Ser642Thr) | |
2 | g.162435253C>A | CA429731604 | KCNH7 | c.1899G>T (p.Val633=) c.1878G>T (p.Val626=) c.1599G>T (p.Val533=) c.1572G>T (p.Val524=) c.1923G>T (p.Val641=) | |
2 | g.162435253C>G | CA429731606 | KCNH7 | c.1899G>C (p.Val633=) c.1878G>C (p.Val626=) c.1599G>C (p.Val533=) c.1572G>C (p.Val524=) c.1923G>C (p.Val641=) | |
2 | g.162435253C>T | CA429731607 | KCNH7 | c.1899G>A (p.Val633=) c.1878G>A (p.Val626=) c.1599G>A (p.Val533=) c.1572G>A (p.Val524=) c.1923G>A (p.Val641=) | |
2 | g.162435254A>C | CA349220759 | KCNH7 | c.1898T>G (p.Val633Gly) c.1877T>G (p.Val626Gly) c.1598T>G (p.Val533Gly) c.1571T>G (p.Val524Gly) c.1922T>G (p.Val641Gly) | |
2 | g.162435254A>G | CA349220760 | KCNH7 | c.1898T>C (p.Val633Ala) c.1877T>C (p.Val626Ala) c.1598T>C (p.Val533Ala) c.1571T>C (p.Val524Ala) c.1922T>C (p.Val641Ala) | |
2 | g.162435254A>T | CA349220761 | KCNH7 | c.1898T>A (p.Val633Glu) c.1877T>A (p.Val626Glu) c.1598T>A (p.Val533Glu) c.1571T>A (p.Val524Glu) c.1922T>A (p.Val641Glu) | |
2 | g.162435255C>A | CA349220762 | KCNH7 | c.1897G>T (p.Val633Leu) c.1876G>T (p.Val626Leu) c.1597G>T (p.Val533Leu) c.1570G>T (p.Val524Leu) c.1921G>T (p.Val641Leu) | |
2 | g.162435255C>G | CA349220763 | KCNH7 | c.1897G>C (p.Val633Leu) c.1876G>C (p.Val626Leu) c.1597G>C (p.Val533Leu) c.1570G>C (p.Val524Leu) c.1921G>C (p.Val641Leu) | |
2 | g.162435255C>T | CA349220764 | KCNH7 | c.1897G>A (p.Val633Met) c.1876G>A (p.Val626Met) c.1597G>A (p.Val533Met) c.1570G>A (p.Val524Met) c.1921G>A (p.Val641Met) | |
2 | g.162435255_162435256insCAAAAGGTCTTTTTGAACCTTAGGGA | CA2511075709 | KCNH7 | c.1896_1897insTCCCTAAGGTTCAAAAAGACCTTTTG (p.Val633SerfsTer26) c.1875_1876insTCCCTAAGGTTCAAAAAGACCTTTTG (p.Val626SerfsTer26) c.1596_1597insTCCCTAAGGTTCAAAAAGACCTTTTG (p.Val533SerfsTer26) c.1569_1570insTCCCTAAGGTTCAAAAAGACCTTTTG (p.Val524SerfsTer26) c.1920_1921insTCCCTAAGGTTCAAAAAGACCTTTTG (p.Val641SerfsTer26) | |
2 | g.162435256A>C | CA349220765 | KCNH7 | c.1896T>G (p.Asn632Lys) c.1875T>G (p.Asn625Lys) c.1596T>G (p.Asn532Lys) c.1569T>G (p.Asn523Lys) c.1920T>G (p.Asn640Lys) | |
2 | g.162435256A>G | CA429731614 | KCNH7 | c.1896T>C (p.Asn632=) c.1875T>C (p.Asn625=) c.1596T>C (p.Asn532=) c.1569T>C (p.Asn523=) c.1920T>C (p.Asn640=) | |
2 | g.162435256A>T | CA349220766 | KCNH7 | c.1896T>A (p.Asn632Lys) c.1875T>A (p.Asn625Lys) c.1596T>A (p.Asn532Lys) c.1569T>A (p.Asn523Lys) c.1920T>A (p.Asn640Lys) | |
2 | g.162435257T>A | CA349220767 | KCNH7 | c.1895A>T (p.Asn632Ile) c.1874A>T (p.Asn625Ile) c.1595A>T (p.Asn532Ile) c.1568A>T (p.Asn523Ile) c.1919A>T (p.Asn640Ile) | |
2 | g.162435257T>C | CA349220769 | KCNH7 | c.1895A>G (p.Asn632Ser) c.1874A>G (p.Asn625Ser) c.1595A>G (p.Asn532Ser) c.1568A>G (p.Asn523Ser) c.1919A>G (p.Asn640Ser) | |
2 | g.162435257T>G | CA349220768 | KCNH7 | c.1895A>C (p.Asn632Thr) c.1874A>C (p.Asn625Thr) c.1595A>C (p.Asn532Thr) c.1568A>C (p.Asn523Thr) c.1919A>C (p.Asn640Thr) | |
2 | g.162435258T>A | CA349220770 | KCNH7 | c.1894A>T (p.Asn632Tyr) c.1873A>T (p.Asn625Tyr) c.1594A>T (p.Asn532Tyr) c.1567A>T (p.Asn523Tyr) c.1918A>T (p.Asn640Tyr) | |
2 | g.162435258T>C | CA349220771 | KCNH7 | c.1894A>G (p.Asn632Asp) c.1873A>G (p.Asn625Asp) c.1594A>G (p.Asn532Asp) c.1567A>G (p.Asn523Asp) c.1918A>G (p.Asn640Asp) | |
2 | g.162435258T>G | CA349220772 | KCNH7 | c.1894A>C (p.Asn632His) c.1873A>C (p.Asn625His) c.1594A>C (p.Asn532His) c.1567A>C (p.Asn523His) c.1918A>C (p.Asn640His) | |
2 | g.162435259C>A | CA429731617 | KCNH7 | c.1893G>T (p.Gly631=) c.1872G>T (p.Gly624=) c.1593G>T (p.Gly531=) c.1566G>T (p.Gly522=) c.1917G>T (p.Gly639=) | |
2 | g.162435259C>G | CA429731618 | KCNH7 | c.1893G>C (p.Gly631=) c.1872G>C (p.Gly624=) c.1593G>C (p.Gly531=) c.1566G>C (p.Gly522=) c.1917G>C (p.Gly639=) | |
2 | g.162435259C>T | CA429731619 | KCNH7 | c.1893G>A (p.Gly631=) c.1872G>A (p.Gly624=) c.1593G>A (p.Gly531=) c.1566G>A (p.Gly522=) c.1917G>A (p.Gly639=) | gnomAD v4 COSMIC COSMIC |
2 | g.162435260C>A | CA349220773 | KCNH7 | c.1892G>T (p.Gly631Val) c.1871G>T (p.Gly624Val) c.1592G>T (p.Gly531Val) c.1565G>T (p.Gly522Val) c.1916G>T (p.Gly639Val) | |
2 | g.162435260C>G | CA349220774 | KCNH7 | c.1892G>C (p.Gly631Ala) c.1871G>C (p.Gly624Ala) c.1592G>C (p.Gly531Ala) c.1565G>C (p.Gly522Ala) c.1916G>C (p.Gly639Ala) | |
2 | g.162435260C>T | CA349220775 | KCNH7 | c.1892G>A (p.Gly631Glu) c.1871G>A (p.Gly624Glu) c.1592G>A (p.Gly531Glu) c.1565G>A (p.Gly522Glu) c.1916G>A (p.Gly639Glu) | COSMIC COSMIC |
2 | g.162435261C>A | CA349220776 | KCNH7 | c.1891G>T (p.Gly631Trp) c.1870G>T (p.Gly624Trp) c.1591G>T (p.Gly531Trp) c.1564G>T (p.Gly522Trp) c.1915G>T (p.Gly639Trp) | |
2 | g.162435261C>G | CA349220777 | KCNH7 | c.1891G>C (p.Gly631Arg) c.1870G>C (p.Gly624Arg) c.1591G>C (p.Gly531Arg) c.1564G>C (p.Gly522Arg) c.1915G>C (p.Gly639Arg) | |
2 | g.162435261C>T | CA349220778 | KCNH7 | c.1891G>A (p.Gly631Arg) c.1870G>A (p.Gly624Arg) c.1591G>A (p.Gly531Arg) c.1564G>A (p.Gly522Arg) c.1915G>A (p.Gly639Arg) | |
2 | g.162435262G>A | CA429731622 | KCNH7 | c.1890C>T (p.Phe630=) c.1869C>T (p.Phe623=) c.1590C>T (p.Phe530=) c.1563C>T (p.Phe521=) c.1914C>T (p.Phe638=) | gnomAD v4 |
2 | g.162435262G>C | CA349220779 | KCNH7 | c.1890C>G (p.Phe630Leu) c.1869C>G (p.Phe623Leu) c.1590C>G (p.Phe530Leu) c.1563C>G (p.Phe521Leu) c.1914C>G (p.Phe638Leu) | |
2 | g.162435262G>T | CA349220780 | KCNH7 | c.1890C>A (p.Phe630Leu) c.1869C>A (p.Phe623Leu) c.1590C>A (p.Phe530Leu) c.1563C>A (p.Phe521Leu) c.1914C>A (p.Phe638Leu) | |
2 | g.162435263A>C | CA349220783 | KCNH7 | c.1889T>G (p.Phe630Cys) c.1868T>G (p.Phe623Cys) c.1589T>G (p.Phe530Cys) c.1562T>G (p.Phe521Cys) c.1913T>G (p.Phe638Cys) | |
2 | g.162435263A>G | CA349220782 | KCNH7 | c.1889T>C (p.Phe630Ser) c.1868T>C (p.Phe623Ser) c.1589T>C (p.Phe530Ser) c.1562T>C (p.Phe521Ser) c.1913T>C (p.Phe638Ser) | |
2 | g.162435263A>T | CA349220781 | KCNH7 | c.1889T>A (p.Phe630Tyr) c.1868T>A (p.Phe623Tyr) c.1589T>A (p.Phe530Tyr) c.1562T>A (p.Phe521Tyr) c.1913T>A (p.Phe638Tyr) | |
2 | g.162435264A>C | CA349220784 | KCNH7 | c.1888T>G (p.Phe630Val) c.1867T>G (p.Phe623Val) c.1588T>G (p.Phe530Val) c.1561T>G (p.Phe521Val) c.1912T>G (p.Phe638Val) | |
2 | g.162435264A>G | CA349220785 | KCNH7 | c.1888T>C (p.Phe630Leu) c.1867T>C (p.Phe623Leu) c.1588T>C (p.Phe530Leu) c.1561T>C (p.Phe521Leu) c.1912T>C (p.Phe638Leu) | |
2 | g.162435264A>T | CA349220786 | KCNH7 | c.1888T>A (p.Phe630Ile) c.1867T>A (p.Phe623Ile) c.1588T>A (p.Phe530Ile) c.1561T>A (p.Phe521Ile) c.1912T>A (p.Phe638Ile) | |
2 | g.162435265T>A | CA429731626 | KCNH7 | c.1887A>T (p.Gly629=) c.1866A>T (p.Gly622=) c.1587A>T (p.Gly529=) c.1560A>T (p.Gly520=) c.1911A>T (p.Gly637=) | |
2 | g.162435265T>C | CA429731627 | KCNH7 | c.1887A>G (p.Gly629=) c.1866A>G (p.Gly622=) c.1587A>G (p.Gly529=) c.1560A>G (p.Gly520=) c.1911A>G (p.Gly637=) | |
2 | g.162435265T>G | CA429731628 | KCNH7 | c.1887A>C (p.Gly629=) c.1866A>C (p.Gly622=) c.1587A>C (p.Gly529=) c.1560A>C (p.Gly520=) c.1911A>C (p.Gly637=) | |
2 | g.162435266C>A | CA349220787 | KCNH7 | c.1886G>T (p.Gly629Val) c.1865G>T (p.Gly622Val) c.1586G>T (p.Gly529Val) c.1559G>T (p.Gly520Val) c.1910G>T (p.Gly637Val) | gnomAD v4 |
2 | g.162435266C>G | CA349220788 | KCNH7 | c.1886G>C (p.Gly629Ala) c.1865G>C (p.Gly622Ala) c.1586G>C (p.Gly529Ala) c.1559G>C (p.Gly520Ala) c.1910G>C (p.Gly637Ala) | |
2 | g.162435266C>T | CA349220789 | KCNH7 | c.1886G>A (p.Gly629Glu) c.1865G>A (p.Gly622Glu) c.1586G>A (p.Gly529Glu) c.1559G>A (p.Gly520Glu) c.1910G>A (p.Gly637Glu) | COSMIC COSMIC |
2 | g.162435267C>A | CA349220790 | KCNH7 | c.1885G>T (p.Gly629Ter) c.1864G>T (p.Gly622Ter) c.1585G>T (p.Gly529Ter) c.1558G>T (p.Gly520Ter) c.1909G>T (p.Gly637Ter) | |
2 | g.162435267C>G | CA349220791 | KCNH7 | c.1885G>C (p.Gly629Arg) c.1864G>C (p.Gly622Arg) c.1585G>C (p.Gly529Arg) c.1558G>C (p.Gly520Arg) c.1909G>C (p.Gly637Arg) | |
2 | g.162435267C>T | CA349220792 | KCNH7 | c.1885G>A (p.Gly629Arg) c.1864G>A (p.Gly622Arg) c.1585G>A (p.Gly529Arg) c.1558G>A (p.Gly520Arg) c.1909G>A (p.Gly637Arg) | |
2 | g.162435268T>A | CA429731630 | KCNH7 | c.1884A>T (p.Val628=) c.1863A>T (p.Val621=) c.1584A>T (p.Val528=) c.1557A>T (p.Val519=) c.1908A>T (p.Val636=) | |
2 | g.162435268T>C | CA429731634 | KCNH7 | c.1884A>G (p.Val628=) c.1863A>G (p.Val621=) c.1584A>G (p.Val528=) c.1557A>G (p.Val519=) c.1908A>G (p.Val636=) | |
2 | g.162435268T>G | CA429731632 | KCNH7 | c.1884A>C (p.Val628=) c.1863A>C (p.Val621=) c.1584A>C (p.Val528=) c.1557A>C (p.Val519=) c.1908A>C (p.Val636=) | |
2 | g.162435269A>C | CA349220793 | KCNH7 | c.1883T>G (p.Val628Gly) c.1862T>G (p.Val621Gly) c.1583T>G (p.Val528Gly) c.1556T>G (p.Val519Gly) c.1907T>G (p.Val636Gly) | |
2 | g.162435269A>G | CA349220794 | KCNH7 | c.1883T>C (p.Val628Ala) c.1862T>C (p.Val621Ala) c.1583T>C (p.Val528Ala) c.1556T>C (p.Val519Ala) c.1907T>C (p.Val636Ala) | |
2 | g.162435269A>T | CA349220795 | KCNH7 | c.1883T>A (p.Val628Glu) c.1862T>A (p.Val621Glu) c.1583T>A (p.Val528Glu) c.1556T>A (p.Val519Glu) c.1907T>A (p.Val636Glu) | |
2 | g.162435270C>A | CA349220798 | KCNH7 | c.1882G>T (p.Val628Leu) c.1861G>T (p.Val621Leu) c.1582G>T (p.Val528Leu) c.1555G>T (p.Val519Leu) c.1906G>T (p.Val636Leu) | |
2 | g.162435270C>G | CA349220797 | KCNH7 | c.1882G>C (p.Val628Leu) c.1861G>C (p.Val621Leu) c.1582G>C (p.Val528Leu) c.1555G>C (p.Val519Leu) c.1906G>C (p.Val636Leu) | |
2 | g.162435270C>T | CA349220796 | KCNH7 | c.1882G>A (p.Val628Ile) c.1861G>A (p.Val621Ile) c.1582G>A (p.Val528Ile) c.1555G>A (p.Val519Ile) c.1906G>A (p.Val636Ile) | |
2 | g.162435271A>C | CA349220799 | KCNH7 | c.1881T>G (p.Ser627Arg) c.1860T>G (p.Ser620Arg) c.1581T>G (p.Ser527Arg) c.1554T>G (p.Ser518Arg) c.1905T>G (p.Ser635Arg) | |
2 | g.162435271A>G | CA429731640 | KCNH7 | c.1881T>C (p.Ser627=) c.1860T>C (p.Ser620=) c.1581T>C (p.Ser527=) c.1554T>C (p.Ser518=) c.1905T>C (p.Ser635=) | gnomAD v4 |
2 | g.162435271A>T | CA349220800 | KCNH7 | c.1881T>A (p.Ser627Arg) c.1860T>A (p.Ser620Arg) c.1581T>A (p.Ser527Arg) c.1554T>A (p.Ser518Arg) c.1905T>A (p.Ser635Arg) | |
2 | g.162435272C>A | CA349220801 | KCNH7 | c.1880G>T (p.Ser627Ile) c.1859G>T (p.Ser620Ile) c.1580G>T (p.Ser527Ile) c.1553G>T (p.Ser518Ile) c.1904G>T (p.Ser635Ile) | |
2 | g.162435272C>G | CA349220803 | KCNH7 | c.1880G>C (p.Ser627Thr) c.1859G>C (p.Ser620Thr) c.1580G>C (p.Ser527Thr) c.1553G>C (p.Ser518Thr) c.1904G>C (p.Ser635Thr) | |
2 | g.162435272C>T | CA349220802 | KCNH7 | c.1880G>A (p.Ser627Asn) c.1859G>A (p.Ser620Asn) c.1580G>A (p.Ser527Asn) c.1553G>A (p.Ser518Asn) c.1904G>A (p.Ser635Asn) | |
2 | g.162435273T>A | CA349220804 | KCNH7 | c.1879A>T (p.Ser627Cys) c.1858A>T (p.Ser620Cys) c.1579A>T (p.Ser527Cys) c.1552A>T (p.Ser518Cys) c.1903A>T (p.Ser635Cys) | |
2 | g.162435273T>C | CA349220805 | KCNH7 | c.1879A>G (p.Ser627Gly) c.1858A>G (p.Ser620Gly) c.1579A>G (p.Ser527Gly) c.1552A>G (p.Ser518Gly) c.1903A>G (p.Ser635Gly) | |
2 | g.162435273T>G | CA349220806 | KCNH7 | c.1879A>C (p.Ser627Arg) c.1858A>C (p.Ser620Arg) c.1579A>C (p.Ser527Arg) c.1552A>C (p.Ser518Arg) c.1903A>C (p.Ser635Arg) | |
2 | g.162435274G>A | CA429731642 | KCNH7 | c.1878C>T (p.Thr626=) c.1857C>T (p.Thr619=) c.1578C>T (p.Thr526=) c.1551C>T (p.Thr517=) c.1902C>T (p.Thr634=) | |
2 | g.162435274G>C | CA429731643 | KCNH7 | c.1878C>G (p.Thr626=) c.1857C>G (p.Thr619=) c.1578C>G (p.Thr526=) c.1551C>G (p.Thr517=) c.1902C>G (p.Thr634=) | |
2 | g.162435274G= | CA1303221223 | KCNH7 | c.1878C= (p.Thr626=) c.1857C= (p.Thr619=) c.1578C= (p.Thr526=) c.1551C= (p.Thr517=) c.1902C= (p.Thr634=) | |
2 | g.162435274G>T | CA429731645 | KCNH7 | c.1878C>A (p.Thr626=) c.1857C>A (p.Thr619=) c.1578C>A (p.Thr526=) c.1551C>A (p.Thr517=) c.1902C>A (p.Thr634=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.162435275G>A | CA349220807 | KCNH7 | c.1877C>T (p.Thr626Ile) c.1856C>T (p.Thr619Ile) c.1577C>T (p.Thr526Ile) c.1550C>T (p.Thr517Ile) c.1901C>T (p.Thr634Ile) | |
2 | g.162435275G>C | CA349220808 | KCNH7 | c.1877C>G (p.Thr626Ser) c.1856C>G (p.Thr619Ser) c.1577C>G (p.Thr526Ser) c.1550C>G (p.Thr517Ser) c.1901C>G (p.Thr634Ser) | |
2 | g.162435275G>T | CA349220809 | KCNH7 | c.1877C>A (p.Thr626Asn) c.1856C>A (p.Thr619Asn) c.1577C>A (p.Thr526Asn) c.1550C>A (p.Thr517Asn) c.1901C>A (p.Thr634Asn) | |
2 | g.162435276T>A | CA349220810 | KCNH7 | c.1876A>T (p.Thr626Ser) c.1855A>T (p.Thr619Ser) c.1576A>T (p.Thr526Ser) c.1549A>T (p.Thr517Ser) c.1900A>T (p.Thr634Ser) | |
2 | g.162435276T>C | CA349220811 | KCNH7 | c.1876A>G (p.Thr626Ala) c.1855A>G (p.Thr619Ala) c.1576A>G (p.Thr526Ala) c.1549A>G (p.Thr517Ala) c.1900A>G (p.Thr634Ala) | |
2 | g.162435276T>G | CA349220812 | KCNH7 | c.1876A>C (p.Thr626Pro) c.1855A>C (p.Thr619Pro) c.1576A>C (p.Thr526Pro) c.1549A>C (p.Thr517Pro) c.1900A>C (p.Thr634Pro) | |
2 | g.162435277T>A | CA349220813 | KCNH7 | c.1875A>T (p.Leu625Phe) c.1854A>T (p.Leu618Phe) c.1575A>T (p.Leu525Phe) c.1548A>T (p.Leu516Phe) c.1899A>T (p.Leu633Phe) | |
2 | g.162435277T>C | CA429731647 | KCNH7 | c.1875A>G (p.Leu625=) c.1854A>G (p.Leu618=) c.1575A>G (p.Leu525=) c.1548A>G (p.Leu516=) c.1899A>G (p.Leu633=) | |
2 | g.162435277T>G | CA349220814 | KCNH7 | c.1875A>C (p.Leu625Phe) c.1854A>C (p.Leu618Phe) c.1575A>C (p.Leu525Phe) c.1548A>C (p.Leu516Phe) c.1899A>C (p.Leu633Phe) | |
2 | g.162435278A>C | CA349220817 | KCNH7 | c.1874T>G (p.Leu625Ter) c.1853T>G (p.Leu618Ter) c.1574T>G (p.Leu525Ter) c.1547T>G (p.Leu516Ter) c.1898T>G (p.Leu633Ter) | |
2 | g.162435278A>G | CA349220816 | KCNH7 | c.1874T>C (p.Leu625Ser) c.1853T>C (p.Leu618Ser) c.1574T>C (p.Leu525Ser) c.1547T>C (p.Leu516Ser) c.1898T>C (p.Leu633Ser) | |
2 | g.162435278A>T | CA349220815 | KCNH7 | c.1874T>A (p.Leu625Ter) c.1853T>A (p.Leu618Ter) c.1574T>A (p.Leu525Ter) c.1547T>A (p.Leu516Ter) c.1898T>A (p.Leu633Ter) | |
2 | g.162435279A>C | CA349220818 | KCNH7 | c.1873T>G (p.Leu625Val) c.1852T>G (p.Leu618Val) c.1573T>G (p.Leu525Val) c.1546T>G (p.Leu516Val) c.1897T>G (p.Leu633Val) | |
2 | g.162435279A>G | CA429731651 | KCNH7 | c.1873T>C (p.Leu625=) c.1852T>C (p.Leu618=) c.1573T>C (p.Leu525=) c.1546T>C (p.Leu516=) c.1897T>C (p.Leu633=) | |
2 | g.162435279A>T | CA349220819 | KCNH7 | c.1873T>A (p.Leu625Ile) c.1852T>A (p.Leu618Ile) c.1573T>A (p.Leu525Ile) c.1546T>A (p.Leu516Ile) c.1897T>A (p.Leu633Ile) | |
2 | g.162435280A>C | CA349220820 | KCNH7 | c.1872T>G (p.Ser624Arg) c.1851T>G (p.Ser617Arg) c.1572T>G (p.Ser524Arg) c.1545T>G (p.Ser515Arg) c.1896T>G (p.Ser632Arg) | |
2 | g.162435280A>G | CA429731652 | KCNH7 | c.1872T>C (p.Ser624=) c.1851T>C (p.Ser617=) c.1572T>C (p.Ser524=) c.1545T>C (p.Ser515=) c.1896T>C (p.Ser632=) | |
2 | g.162435280A>T | CA349220821 | KCNH7 | c.1872T>A (p.Ser624Arg) c.1851T>A (p.Ser617Arg) c.1572T>A (p.Ser524Arg) c.1545T>A (p.Ser515Arg) c.1896T>A (p.Ser632Arg) | |
2 | g.162435281C>A | CA349220822 | KCNH7 | c.1871G>T (p.Ser624Ile) c.1850G>T (p.Ser617Ile) c.1571G>T (p.Ser524Ile) c.1544G>T (p.Ser515Ile) c.1895G>T (p.Ser632Ile) | |
2 | g.162435281C>G | CA349220823 | KCNH7 | c.1871G>C (p.Ser624Thr) c.1850G>C (p.Ser617Thr) c.1571G>C (p.Ser524Thr) c.1544G>C (p.Ser515Thr) c.1895G>C (p.Ser632Thr) | |
2 | g.162435281C>T | CA349220824 | KCNH7 | c.1871G>A (p.Ser624Asn) c.1850G>A (p.Ser617Asn) c.1571G>A (p.Ser524Asn) c.1544G>A (p.Ser515Asn) c.1895G>A (p.Ser632Asn) | COSMIC COSMIC |
2 | g.162435282T>A | CA349220825 | KCNH7 | c.1870A>T (p.Ser624Cys) c.1849A>T (p.Ser617Cys) c.1570A>T (p.Ser524Cys) c.1543A>T (p.Ser515Cys) c.1894A>T (p.Ser632Cys) | |
2 | g.162435282T>C | CA349220826 | KCNH7 | c.1870A>G (p.Ser624Gly) c.1849A>G (p.Ser617Gly) c.1570A>G (p.Ser524Gly) c.1543A>G (p.Ser515Gly) c.1894A>G (p.Ser632Gly) | |
2 | g.162435282T>G | CA349220827 | KCNH7 | c.1870A>C (p.Ser624Arg) c.1849A>C (p.Ser617Arg) c.1570A>C (p.Ser524Arg) c.1543A>C (p.Ser515Arg) c.1894A>C (p.Ser632Arg) | |
2 | g.162435283G>A | CA429731655 | KCNH7 | c.1869C>T (p.Ser623=) c.1848C>T (p.Ser616=) c.1569C>T (p.Ser523=) c.1542C>T (p.Ser514=) c.1893C>T (p.Ser631=) | |
2 | g.162435283G>C | CA349220828 | KCNH7 | c.1869C>G (p.Ser623Arg) c.1848C>G (p.Ser616Arg) c.1569C>G (p.Ser523Arg) c.1542C>G (p.Ser514Arg) c.1893C>G (p.Ser631Arg) | |
2 | g.162435283G>T | CA349220829 | KCNH7 | c.1869C>A (p.Ser623Arg) c.1848C>A (p.Ser616Arg) c.1569C>A (p.Ser523Arg) c.1542C>A (p.Ser514Arg) c.1893C>A (p.Ser631Arg) | |
2 | g.162435284C>A | CA349220832 | KCNH7 | c.1868G>T (p.Ser623Ile) c.1847G>T (p.Ser616Ile) c.1568G>T (p.Ser523Ile) c.1541G>T (p.Ser514Ile) c.1892G>T (p.Ser631Ile) | |
2 | g.162435284C>G | CA349220831 | KCNH7 | c.1868G>C (p.Ser623Thr) c.1847G>C (p.Ser616Thr) c.1568G>C (p.Ser523Thr) c.1541G>C (p.Ser514Thr) c.1892G>C (p.Ser631Thr) | |
2 | g.162435284C>T | CA349220830 | KCNH7 | c.1868G>A (p.Ser623Asn) c.1847G>A (p.Ser616Asn) c.1568G>A (p.Ser523Asn) c.1541G>A (p.Ser514Asn) c.1892G>A (p.Ser631Asn) | |
2 | g.162435285T>A | CA349220833 | KCNH7 | c.1867A>T (p.Ser623Cys) c.1846A>T (p.Ser616Cys) c.1567A>T (p.Ser523Cys) c.1540A>T (p.Ser514Cys) c.1891A>T (p.Ser631Cys) | |
2 | g.162435285T>C | CA349220834 | KCNH7 | c.1867A>G (p.Ser623Gly) c.1846A>G (p.Ser616Gly) c.1567A>G (p.Ser523Gly) c.1540A>G (p.Ser514Gly) c.1891A>G (p.Ser631Gly) | |
2 | g.162435285T>G | CA349220835 | KCNH7 | c.1867A>C (p.Ser623Arg) c.1846A>C (p.Ser616Arg) c.1567A>C (p.Ser523Arg) c.1540A>C (p.Ser514Arg) c.1891A>C (p.Ser631Arg) | |
2 | g.162435286G>A | CA429731661 | KCNH7 | c.1866C>T (p.Phe622=) c.1845C>T (p.Phe615=) c.1566C>T (p.Phe522=) c.1539C>T (p.Phe513=) c.1890C>T (p.Phe630=) | COSMIC COSMIC |
2 | g.162435286G>C | CA349220836 | KCNH7 | c.1866C>G (p.Phe622Leu) c.1845C>G (p.Phe615Leu) c.1566C>G (p.Phe522Leu) c.1539C>G (p.Phe513Leu) c.1890C>G (p.Phe630Leu) | |
2 | g.162435286G>T | CA349220837 | KCNH7 | c.1866C>A (p.Phe622Leu) c.1845C>A (p.Phe615Leu) c.1566C>A (p.Phe522Leu) c.1539C>A (p.Phe513Leu) c.1890C>A (p.Phe630Leu) | |
2 | g.162435287A>C | CA349220840 | KCNH7 | c.1865T>G (p.Phe622Cys) c.1844T>G (p.Phe615Cys) c.1565T>G (p.Phe522Cys) c.1538T>G (p.Phe513Cys) c.1889T>G (p.Phe630Cys) | |
2 | g.162435287A>G | CA349220839 | KCNH7 | c.1865T>C (p.Phe622Ser) c.1844T>C (p.Phe615Ser) c.1565T>C (p.Phe522Ser) c.1538T>C (p.Phe513Ser) c.1889T>C (p.Phe630Ser) | |
2 | g.162435287A>T | CA349220838 | KCNH7 | c.1865T>A (p.Phe622Tyr) c.1844T>A (p.Phe615Tyr) c.1565T>A (p.Phe522Tyr) c.1538T>A (p.Phe513Tyr) c.1889T>A (p.Phe630Tyr) | |
2 | g.162435288A>C | CA349220841 | KCNH7 | c.1864T>G (p.Phe622Val) c.1843T>G (p.Phe615Val) c.1564T>G (p.Phe522Val) c.1537T>G (p.Phe513Val) c.1888T>G (p.Phe630Val) | |
2 | g.162435288A>G | CA349220842 | KCNH7 | c.1864T>C (p.Phe622Leu) c.1843T>C (p.Phe615Leu) c.1564T>C (p.Phe522Leu) c.1537T>C (p.Phe513Leu) c.1888T>C (p.Phe630Leu) | |
2 | g.162435288A>T | CA349220843 | KCNH7 | c.1864T>A (p.Phe622Ile) c.1843T>A (p.Phe615Ile) c.1564T>A (p.Phe522Ile) c.1537T>A (p.Phe513Ile) c.1888T>A (p.Phe630Ile) | |
2 | g.162435289G>A | CA429731663 | KCNH7 | c.1863C>T (p.Thr621=) c.1842C>T (p.Thr614=) c.1563C>T (p.Thr521=) c.1536C>T (p.Thr512=) c.1887C>T (p.Thr629=) | gnomAD v4 |
2 | g.162435289G>C | CA429731664 | KCNH7 | c.1863C>G (p.Thr621=) c.1842C>G (p.Thr614=) c.1563C>G (p.Thr521=) c.1536C>G (p.Thr512=) c.1887C>G (p.Thr629=) | |
2 | g.162435289G>T | CA429731665 | KCNH7 | c.1863C>A (p.Thr621=) c.1842C>A (p.Thr614=) c.1563C>A (p.Thr521=) c.1536C>A (p.Thr512=) c.1887C>A (p.Thr629=) | |
2 | g.162435290G>A | CA349220844 | KCNH7 | c.1862C>T (p.Thr621Ile) c.1841C>T (p.Thr614Ile) c.1562C>T (p.Thr521Ile) c.1535C>T (p.Thr512Ile) c.1886C>T (p.Thr629Ile) | |
2 | g.162435290G>C | CA349220845 | KCNH7 | c.1862C>G (p.Thr621Ser) c.1841C>G (p.Thr614Ser) c.1562C>G (p.Thr521Ser) c.1535C>G (p.Thr512Ser) c.1886C>G (p.Thr629Ser) | |
2 | g.162435290G>T | CA349220846 | KCNH7 | c.1862C>A (p.Thr621Asn) c.1841C>A (p.Thr614Asn) c.1562C>A (p.Thr521Asn) c.1535C>A (p.Thr512Asn) c.1886C>A (p.Thr629Asn) | |
2 | g.162435291T>A | CA349220847 | KCNH7 | c.1861A>T (p.Thr621Ser) c.1840A>T (p.Thr614Ser) c.1561A>T (p.Thr521Ser) c.1534A>T (p.Thr512Ser) c.1885A>T (p.Thr629Ser) | |
2 | g.162435291T>C | CA349220849 | KCNH7 | c.1861A>G (p.Thr621Ala) c.1840A>G (p.Thr614Ala) c.1561A>G (p.Thr521Ala) c.1534A>G (p.Thr512Ala) c.1885A>G (p.Thr629Ala) | |
2 | g.162435291T>G | CA349220848 | KCNH7 | c.1861A>C (p.Thr621Pro) c.1840A>C (p.Thr614Pro) c.1561A>C (p.Thr521Pro) c.1534A>C (p.Thr512Pro) c.1885A>C (p.Thr629Pro) | |
2 | g.162435292A>C | CA349220850 | KCNH7 | c.1860T>G (p.Phe620Leu) c.1839T>G (p.Phe613Leu) c.1560T>G (p.Phe520Leu) c.1533T>G (p.Phe511Leu) c.1884T>G (p.Phe628Leu) | |
2 | g.162435292A>G | CA429731669 | KCNH7 | c.1860T>C (p.Phe620=) c.1839T>C (p.Phe613=) c.1560T>C (p.Phe520=) c.1533T>C (p.Phe511=) c.1884T>C (p.Phe628=) | |
2 | g.162435292A>T | CA349220851 | KCNH7 | c.1860T>A (p.Phe620Leu) c.1839T>A (p.Phe613Leu) c.1560T>A (p.Phe520Leu) c.1533T>A (p.Phe511Leu) c.1884T>A (p.Phe628Leu) | |
2 | g.162435293A>C | CA349220852 | KCNH7 | c.1859T>G (p.Phe620Cys) c.1838T>G (p.Phe613Cys) c.1559T>G (p.Phe520Cys) c.1532T>G (p.Phe511Cys) c.1883T>G (p.Phe628Cys) | |
2 | g.162435293A>G | CA349220853 | KCNH7 | c.1859T>C (p.Phe620Ser) c.1838T>C (p.Phe613Ser) c.1559T>C (p.Phe520Ser) c.1532T>C (p.Phe511Ser) c.1883T>C (p.Phe628Ser) | |
2 | g.162435293A>T | CA349220854 | KCNH7 | c.1859T>A (p.Phe620Tyr) c.1838T>A (p.Phe613Tyr) c.1559T>A (p.Phe520Tyr) c.1532T>A (p.Phe511Tyr) c.1883T>A (p.Phe628Tyr) | |
2 | g.162435294A>C | CA349220855 | KCNH7 | c.1858T>G (p.Phe620Val) c.1837T>G (p.Phe613Val) c.1558T>G (p.Phe520Val) c.1531T>G (p.Phe511Val) c.1882T>G (p.Phe628Val) | |
2 | g.162435294A>G | CA349220856 | KCNH7 | c.1858T>C (p.Phe620Leu) c.1837T>C (p.Phe613Leu) c.1558T>C (p.Phe520Leu) c.1531T>C (p.Phe511Leu) c.1882T>C (p.Phe628Leu) | |
2 | g.162435294A>T | CA349220857 | KCNH7 | c.1858T>A (p.Phe620Ile) c.1837T>A (p.Phe613Ile) c.1558T>A (p.Phe520Ile) c.1531T>A (p.Phe511Ile) c.1882T>A (p.Phe628Ile) | |
2 | g.162435295A>C | CA349220858 | KCNH7 | c.1857T>G (p.Tyr619Ter) c.1836T>G (p.Tyr612Ter) c.1557T>G (p.Tyr519Ter) c.1530T>G (p.Tyr510Ter) c.1881T>G (p.Tyr627Ter) | |
2 | g.162435295A>G | CA429731671 | KCNH7 | c.1857T>C (p.Tyr619=) c.1836T>C (p.Tyr612=) c.1557T>C (p.Tyr519=) c.1530T>C (p.Tyr510=) c.1881T>C (p.Tyr627=) | COSMIC COSMIC |
2 | g.162435295A>T | CA349220859 | KCNH7 | c.1857T>A (p.Tyr619Ter) c.1836T>A (p.Tyr612Ter) c.1557T>A (p.Tyr519Ter) c.1530T>A (p.Tyr510Ter) c.1881T>A (p.Tyr627Ter) | |
2 | g.162435296T>A | CA349220862 | KCNH7 | c.1856A>T (p.Tyr619Phe) c.1835A>T (p.Tyr612Phe) c.1556A>T (p.Tyr519Phe) c.1529A>T (p.Tyr510Phe) c.1880A>T (p.Tyr627Phe) | |
2 | g.162435296T>C | CA349220861 | KCNH7 | c.1856A>G (p.Tyr619Cys) c.1835A>G (p.Tyr612Cys) c.1556A>G (p.Tyr519Cys) c.1529A>G (p.Tyr510Cys) c.1880A>G (p.Tyr627Cys) | |
2 | g.162435296T>G | CA349220860 | KCNH7 | c.1856A>C (p.Tyr619Ser) c.1835A>C (p.Tyr612Ser) c.1556A>C (p.Tyr519Ser) c.1529A>C (p.Tyr510Ser) c.1880A>C (p.Tyr627Ser) | |
2 | g.162435296_162435297delinsTA | CA1303221225 | KCNH7 | c.1855_1856delinsTA (p.Tyr619=) c.1834_1835delinsTA (p.Tyr612=) c.1555_1556delinsTA (p.Tyr519=) c.1528_1529delinsTA (p.Tyr510=) c.1879_1880delinsTA (p.Tyr627=) | |
2 | g.162435297A>C | CA349220863 | KCNH7 | c.1855T>G (p.Tyr619Asp) c.1834T>G (p.Tyr612Asp) c.1555T>G (p.Tyr519Asp) c.1528T>G (p.Tyr510Asp) c.1879T>G (p.Tyr627Asp) | |
2 | g.162435297A>G | CA349220864 | KCNH7 | c.1855T>C (p.Tyr619His) c.1834T>C (p.Tyr612His) c.1555T>C (p.Tyr519His) c.1528T>C (p.Tyr510His) c.1879T>C (p.Tyr627His) | |
2 | g.162435297A>T | CA349220865 | KCNH7 | c.1855T>A (p.Tyr619Asn) c.1834T>A (p.Tyr612Asn) c.1555T>A (p.Tyr519Asn) c.1528T>A (p.Tyr510Asn) c.1879T>A (p.Tyr627Asn) | |
2 | g.162435299del | CA537510005 | KCNH7 | c.1855del (p.Tyr619IlefsTer7) c.1834del (p.Tyr612IlefsTer7) c.1555del (p.Tyr519IlefsTer7) c.1528del (p.Tyr510IlefsTer7) c.1879del (p.Tyr627IlefsTer7) | dbSNP gnomAD v2 |
2 | g.162435298A>C | CA429731674 | KCNH7 | c.1854T>G (p.Leu618=) c.1833T>G (p.Leu611=) c.1554T>G (p.Leu518=) c.1527T>G (p.Leu509=) c.1878T>G (p.Leu626=) | |
2 | g.162435298A>G | CA429731673 | KCNH7 | c.1854T>C (p.Leu618=) c.1833T>C (p.Leu611=) c.1554T>C (p.Leu518=) c.1527T>C (p.Leu509=) c.1878T>C (p.Leu626=) | |
2 | g.162435298A>T | CA429731672 | KCNH7 | c.1854T>A (p.Leu618=) c.1833T>A (p.Leu611=) c.1554T>A (p.Leu518=) c.1527T>A (p.Leu509=) c.1878T>A (p.Leu626=) | |
2 | g.162435299A>C | CA349220866 | KCNH7 | c.1853T>G (p.Leu618Arg) c.1832T>G (p.Leu611Arg) c.1553T>G (p.Leu518Arg) c.1526T>G (p.Leu509Arg) c.1877T>G (p.Leu626Arg) | |
2 | g.162435299A>G | CA349220867 | KCNH7 | c.1853T>C (p.Leu618Pro) c.1832T>C (p.Leu611Pro) c.1553T>C (p.Leu518Pro) c.1526T>C (p.Leu509Pro) c.1877T>C (p.Leu626Pro) | |
2 | g.162435299A>T | CA349220868 | KCNH7 | c.1853T>A (p.Leu618His) c.1832T>A (p.Leu611His) c.1553T>A (p.Leu518His) c.1526T>A (p.Leu509His) c.1877T>A (p.Leu626His) | |
2 | g.162435300G>A | CA349220871 | KCNH7 | c.1852C>T (p.Leu618Phe) c.1831C>T (p.Leu611Phe) c.1552C>T (p.Leu518Phe) c.1525C>T (p.Leu509Phe) c.1876C>T (p.Leu626Phe) | |
2 | g.162435300G>C | CA349220870 | KCNH7 | c.1852C>G (p.Leu618Val) c.1831C>G (p.Leu611Val) c.1552C>G (p.Leu518Val) c.1525C>G (p.Leu509Val) c.1876C>G (p.Leu626Val) | |
2 | g.162435300G>T | CA349220869 | KCNH7 | c.1852C>A (p.Leu618Ile) c.1831C>A (p.Leu611Ile) c.1552C>A (p.Leu518Ile) c.1525C>A (p.Leu509Ile) c.1876C>A (p.Leu626Ile) | |
2 | g.162435301T>A | CA429731677 | KCNH7 | c.1851A>T (p.Ala617=) c.1830A>T (p.Ala610=) c.1551A>T (p.Ala517=) c.1524A>T (p.Ala508=) c.1875A>T (p.Ala625=) | |
2 | g.162435301T>C | CA429731678 | KCNH7 | c.1851A>G (p.Ala617=) c.1830A>G (p.Ala610=) c.1551A>G (p.Ala517=) c.1524A>G (p.Ala508=) c.1875A>G (p.Ala625=) | gnomAD v4 |
2 | g.162435301T>G | CA429731679 | KCNH7 | c.1851A>C (p.Ala617=) c.1830A>C (p.Ala610=) c.1551A>C (p.Ala517=) c.1524A>C (p.Ala508=) c.1875A>C (p.Ala625=) | |
2 | g.162435302G>A | CA349220872 | KCNH7 | c.1850C>T (p.Ala617Val) c.1829C>T (p.Ala610Val) c.1550C>T (p.Ala517Val) c.1523C>T (p.Ala508Val) c.1874C>T (p.Ala625Val) | |
2 | g.162435302G>C | CA349220873 | KCNH7 | c.1850C>G (p.Ala617Gly) c.1829C>G (p.Ala610Gly) c.1550C>G (p.Ala517Gly) c.1523C>G (p.Ala508Gly) c.1874C>G (p.Ala625Gly) | |
2 | g.162435302G>T | CA349220874 | KCNH7 | c.1850C>A (p.Ala617Glu) c.1829C>A (p.Ala610Glu) c.1550C>A (p.Ala517Glu) c.1523C>A (p.Ala508Glu) c.1874C>A (p.Ala625Glu) | |
2 | g.162435303C>A | CA349220875 | KCNH7 | c.1849G>T (p.Ala617Ser) c.1828G>T (p.Ala610Ser) c.1549G>T (p.Ala517Ser) c.1522G>T (p.Ala508Ser) c.1873G>T (p.Ala625Ser) | |
2 | g.162435303C>G | CA349220876 | KCNH7 | c.1849G>C (p.Ala617Pro) c.1828G>C (p.Ala610Pro) c.1549G>C (p.Ala517Pro) c.1522G>C (p.Ala508Pro) c.1873G>C (p.Ala625Pro) | |
2 | g.162435303C>T | CA349220877 | KCNH7 | c.1849G>A (p.Ala617Thr) c.1828G>A (p.Ala610Thr) c.1549G>A (p.Ala517Thr) c.1522G>A (p.Ala508Thr) c.1873G>A (p.Ala625Thr) | COSMIC COSMIC |
2 | g.162435304T>A | CA429731680 | KCNH7 | c.1848A>T (p.Thr616=) c.1827A>T (p.Thr609=) c.1548A>T (p.Thr516=) c.1521A>T (p.Thr507=) c.1872A>T (p.Thr624=) | |
2 | g.162435304T>C | CA59809326 | KCNH7 | c.1848A>G (p.Thr616=) c.1827A>G (p.Thr609=) c.1548A>G (p.Thr516=) c.1521A>G (p.Thr507=) c.1872A>G (p.Thr624=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162435304T>G | CA429731681 | KCNH7 | c.1848A>C (p.Thr616=) c.1827A>C (p.Thr609=) c.1548A>C (p.Thr516=) c.1521A>C (p.Thr507=) c.1872A>C (p.Thr624=) | dbSNP |
2 | g.162435304T= | CA1303221230 | KCNH7 | c.1848A= (p.Thr616=) c.1827A= (p.Thr609=) c.1548A= (p.Thr516=) c.1521A= (p.Thr507=) c.1872A= (p.Thr624=) | |
2 | g.162435305G>A | CA349220878 | KCNH7 | c.1847C>T (p.Thr616Ile) c.1826C>T (p.Thr609Ile) c.1547C>T (p.Thr516Ile) c.1520C>T (p.Thr507Ile) c.1871C>T (p.Thr624Ile) | |
2 | g.162435305G>C | CA349220880 | KCNH7 | c.1847C>G (p.Thr616Arg) c.1826C>G (p.Thr609Arg) c.1547C>G (p.Thr516Arg) c.1520C>G (p.Thr507Arg) c.1871C>G (p.Thr624Arg) | |
2 | g.162435305G>T | CA349220879 | KCNH7 | c.1847C>A (p.Thr616Lys) c.1826C>A (p.Thr609Lys) c.1547C>A (p.Thr516Lys) c.1520C>A (p.Thr507Lys) c.1871C>A (p.Thr624Lys) | |
2 | g.162435306T>A | CA349220881 | KCNH7 | c.1846A>T (p.Thr616Ser) c.1825A>T (p.Thr609Ser) c.1546A>T (p.Thr516Ser) c.1519A>T (p.Thr507Ser) c.1870A>T (p.Thr624Ser) | |
2 | g.162435306T>C | CA349220882 | KCNH7 | c.1846A>G (p.Thr616Ala) c.1825A>G (p.Thr609Ala) c.1546A>G (p.Thr516Ala) c.1519A>G (p.Thr507Ala) c.1870A>G (p.Thr624Ala) | |
2 | g.162435306T>G | CA349220883 | KCNH7 | c.1846A>C (p.Thr616Pro) c.1825A>C (p.Thr609Pro) c.1546A>C (p.Thr516Pro) c.1519A>C (p.Thr507Pro) c.1870A>C (p.Thr624Pro) | |
2 | g.162435307G>A | CA429731685 | KCNH7 | c.1845C>T (p.Val615=) c.1824C>T (p.Val608=) c.1545C>T (p.Val515=) c.1518C>T (p.Val506=) c.1869C>T (p.Val623=) | gnomAD v4 |
2 | g.162435307G>C | CA429731686 | KCNH7 | c.1845C>G (p.Val615=) c.1824C>G (p.Val608=) c.1545C>G (p.Val515=) c.1518C>G (p.Val506=) c.1869C>G (p.Val623=) | |
2 | g.162435307G>T | CA429731687 | KCNH7 | c.1845C>A (p.Val615=) c.1824C>A (p.Val608=) c.1545C>A (p.Val515=) c.1518C>A (p.Val506=) c.1869C>A (p.Val623=) | |
2 | g.162435308A>C | CA349220884 | KCNH7 | c.1844T>G (p.Val615Gly) c.1823T>G (p.Val608Gly) c.1544T>G (p.Val515Gly) c.1517T>G (p.Val506Gly) c.1868T>G (p.Val623Gly) | |
2 | g.162435308A>G | CA349220885 | KCNH7 | c.1844T>C (p.Val615Ala) c.1823T>C (p.Val608Ala) c.1544T>C (p.Val515Ala) c.1517T>C (p.Val506Ala) c.1868T>C (p.Val623Ala) | dbSNP |
2 | g.162435308A>T | CA349220886 | KCNH7 | c.1844T>A (p.Val615Asp) c.1823T>A (p.Val608Asp) c.1544T>A (p.Val515Asp) c.1517T>A (p.Val506Asp) c.1868T>A (p.Val623Asp) | |
2 | g.162435309C>A | CA349220887 | KCNH7 | c.1843G>T (p.Val615Phe) c.1822G>T (p.Val608Phe) c.1543G>T (p.Val515Phe) c.1516G>T (p.Val506Phe) c.1867G>T (p.Val623Phe) | gnomAD v4 COSMIC COSMIC |
2 | g.162435309C>G | CA349220888 | KCNH7 | c.1843G>C (p.Val615Leu) c.1822G>C (p.Val608Leu) c.1543G>C (p.Val515Leu) c.1516G>C (p.Val506Leu) c.1867G>C (p.Val623Leu) | gnomAD v4 |
2 | g.162435309C>T | CA349220889 | KCNH7 | c.1843G>A (p.Val615Ile) c.1822G>A (p.Val608Ile) c.1543G>A (p.Val515Ile) c.1516G>A (p.Val506Ile) c.1867G>A (p.Val623Ile) | gnomAD v4 |
2 | g.162435310G>A | CA1935616 | KCNH7 | c.1842C>T (p.Tyr614=) c.1821C>T (p.Tyr607=) c.1542C>T (p.Tyr514=) c.1515C>T (p.Tyr505=) c.1866C>T (p.Tyr622=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162435310G>C | CA349220890 | KCNH7 | c.1842C>G (p.Tyr614Ter) c.1821C>G (p.Tyr607Ter) c.1542C>G (p.Tyr514Ter) c.1515C>G (p.Tyr505Ter) c.1866C>G (p.Tyr622Ter) | |
2 | g.162435310G= | CA1303221235 | KCNH7 | c.1842C= (p.Tyr614=) c.1821C= (p.Tyr607=) c.1542C= (p.Tyr514=) c.1515C= (p.Tyr505=) c.1866C= (p.Tyr622=) | |
2 | g.162435310G>T | CA349220891 | KCNH7 | c.1842C>A (p.Tyr614Ter) c.1821C>A (p.Tyr607Ter) c.1542C>A (p.Tyr514Ter) c.1515C>A (p.Tyr505Ter) c.1866C>A (p.Tyr622Ter) | |
2 | g.162435311T>A | CA349220892 | KCNH7 | c.1841A>T (p.Tyr614Phe) c.1820A>T (p.Tyr607Phe) c.1541A>T (p.Tyr514Phe) c.1514A>T (p.Tyr505Phe) c.1865A>T (p.Tyr622Phe) | |
2 | g.162435311T>C | CA349220894 | KCNH7 | c.1841A>G (p.Tyr614Cys) c.1820A>G (p.Tyr607Cys) c.1541A>G (p.Tyr514Cys) c.1514A>G (p.Tyr505Cys) c.1865A>G (p.Tyr622Cys) | |
2 | g.162435311T>G | CA349220893 | KCNH7 | c.1841A>C (p.Tyr614Ser) c.1820A>C (p.Tyr607Ser) c.1541A>C (p.Tyr514Ser) c.1514A>C (p.Tyr505Ser) c.1865A>C (p.Tyr622Ser) | |
2 | g.162435312A>C | CA349220895 | KCNH7 | c.1840T>G (p.Tyr614Asp) c.1819T>G (p.Tyr607Asp) c.1540T>G (p.Tyr514Asp) c.1513T>G (p.Tyr505Asp) c.1864T>G (p.Tyr622Asp) | |
2 | g.162435312A>G | CA349220896 | KCNH7 | c.1840T>C (p.Tyr614His) c.1819T>C (p.Tyr607His) c.1540T>C (p.Tyr514His) c.1513T>C (p.Tyr505His) c.1864T>C (p.Tyr622His) | |
2 | g.162435312A>T | CA349220897 | KCNH7 | c.1840T>A (p.Tyr614Asn) c.1819T>A (p.Tyr607Asn) c.1540T>A (p.Tyr514Asn) c.1513T>A (p.Tyr505Asn) c.1864T>A (p.Tyr622Asn) | |
2 | g.162435313T>A | CA349220898 | KCNH7 | c.1839A>T (p.Lys613Asn) c.1818A>T (p.Lys606Asn) c.1539A>T (p.Lys513Asn) c.1512A>T (p.Lys504Asn) c.1863A>T (p.Lys621Asn) | |
2 | g.162435313T>C | CA429731691 | KCNH7 | c.1839A>G (p.Lys613=) c.1818A>G (p.Lys606=) c.1539A>G (p.Lys513=) c.1512A>G (p.Lys504=) c.1863A>G (p.Lys621=) | |
2 | g.162435313T>G | CA349220899 | KCNH7 | c.1839A>C (p.Lys613Asn) c.1818A>C (p.Lys606Asn) c.1539A>C (p.Lys513Asn) c.1512A>C (p.Lys504Asn) c.1863A>C (p.Lys621Asn) | |
2 | g.162435314T>A | CA349220902 | KCNH7 | c.1838A>T (p.Lys613Ile) c.1817A>T (p.Lys606Ile) c.1538A>T (p.Lys513Ile) c.1511A>T (p.Lys504Ile) c.1862A>T (p.Lys621Ile) | |
2 | g.162435314T>C | CA349220901 | KCNH7 | c.1838A>G (p.Lys613Arg) c.1817A>G (p.Lys606Arg) c.1538A>G (p.Lys513Arg) c.1511A>G (p.Lys504Arg) c.1862A>G (p.Lys621Arg) | |
2 | g.162435314T>G | CA349220900 | KCNH7 | c.1838A>C (p.Lys613Thr) c.1817A>C (p.Lys606Thr) c.1538A>C (p.Lys513Thr) c.1511A>C (p.Lys504Thr) c.1862A>C (p.Lys621Thr) | |
2 | g.162435315T>A | CA349220903 | KCNH7 | c.1837A>T (p.Lys613Ter) c.1816A>T (p.Lys606Ter) c.1537A>T (p.Lys513Ter) c.1510A>T (p.Lys504Ter) c.1861A>T (p.Lys621Ter) | |
2 | g.162435315T>C | CA349220904 | KCNH7 | c.1837A>G (p.Lys613Glu) c.1816A>G (p.Lys606Glu) c.1537A>G (p.Lys513Glu) c.1510A>G (p.Lys504Glu) c.1861A>G (p.Lys621Glu) | |
2 | g.162435315T>G | CA349220905 | KCNH7 | c.1837A>C (p.Lys613Gln) c.1816A>C (p.Lys606Gln) c.1537A>C (p.Lys513Gln) c.1510A>C (p.Lys504Gln) c.1861A>C (p.Lys621Gln) | |
2 | g.162435316G>A | CA1935617 | KCNH7 | c.1836C>T (p.Asp612=) c.1815C>T (p.Asp605=) c.1536C>T (p.Asp512=) c.1509C>T (p.Asp503=) c.1860C>T (p.Asp620=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162435316G>C | CA349220906 | KCNH7 | c.1836C>G (p.Asp612Glu) c.1815C>G (p.Asp605Glu) c.1536C>G (p.Asp512Glu) c.1509C>G (p.Asp503Glu) c.1860C>G (p.Asp620Glu) | |
2 | g.162435316G= | CA1303221238 | KCNH7 | c.1836C= (p.Asp612=) c.1815C= (p.Asp605=) c.1536C= (p.Asp512=) c.1509C= (p.Asp503=) c.1860C= (p.Asp620=) | |
2 | g.162435316G>T | CA349220907 | KCNH7 | c.1836C>A (p.Asp612Glu) c.1815C>A (p.Asp605Glu) c.1536C>A (p.Asp512Glu) c.1509C>A (p.Asp503Glu) c.1860C>A (p.Asp620Glu) | |
2 | g.162435317T>A | CA349220908 | KCNH7 | c.1835A>T (p.Asp612Val) c.1814A>T (p.Asp605Val) c.1535A>T (p.Asp512Val) c.1508A>T (p.Asp503Val) c.1859A>T (p.Asp620Val) | |
2 | g.162435317T>C | CA349220910 | KCNH7 | c.1835A>G (p.Asp612Gly) c.1814A>G (p.Asp605Gly) c.1535A>G (p.Asp512Gly) c.1508A>G (p.Asp503Gly) c.1859A>G (p.Asp620Gly) | |
2 | g.162435317T>G | CA349220909 | KCNH7 | c.1835A>C (p.Asp612Ala) c.1814A>C (p.Asp605Ala) c.1535A>C (p.Asp512Ala) c.1508A>C (p.Asp503Ala) c.1859A>C (p.Asp620Ala) | |
2 | g.162435318C>A | CA349220911 | KCNH7 | c.1834G>T (p.Asp612Tyr) c.1813G>T (p.Asp605Tyr) c.1534G>T (p.Asp512Tyr) c.1507G>T (p.Asp503Tyr) c.1858G>T (p.Asp620Tyr) | |
2 | g.162435318C>G | CA349220912 | KCNH7 | c.1834G>C (p.Asp612His) c.1813G>C (p.Asp605His) c.1534G>C (p.Asp512His) c.1507G>C (p.Asp503His) c.1858G>C (p.Asp620His) | |
2 | g.162435318C>T | CA349220913 | KCNH7 | c.1834G>A (p.Asp612Asn) c.1813G>A (p.Asp605Asn) c.1534G>A (p.Asp512Asn) c.1507G>A (p.Asp503Asn) c.1858G>A (p.Asp620Asn) | |
2 | g.162435319T>A | CA349220914 | KCNH7 | c.1833A>T (p.Lys611Asn) c.1812A>T (p.Lys604Asn) c.1533A>T (p.Lys511Asn) c.1506A>T (p.Lys502Asn) c.1857A>T (p.Lys619Asn) | |
2 | g.162435319T>C | CA429731694 | KCNH7 | c.1833A>G (p.Lys611=) c.1812A>G (p.Lys604=) c.1533A>G (p.Lys511=) c.1506A>G (p.Lys502=) c.1857A>G (p.Lys619=) | |
2 | g.162435319T>G | CA349220915 | KCNH7 | c.1833A>C (p.Lys611Asn) c.1812A>C (p.Lys604Asn) c.1533A>C (p.Lys511Asn) c.1506A>C (p.Lys502Asn) c.1857A>C (p.Lys619Asn) | |
2 | g.162435320T>A | CA349220916 | KCNH7 | c.1832A>T (p.Lys611Ile) c.1811A>T (p.Lys604Ile) c.1532A>T (p.Lys511Ile) c.1505A>T (p.Lys502Ile) c.1856A>T (p.Lys619Ile) | |
2 | g.162435320T>C | CA349220917 | KCNH7 | c.1832A>G (p.Lys611Arg) c.1811A>G (p.Lys604Arg) c.1532A>G (p.Lys511Arg) c.1505A>G (p.Lys502Arg) c.1856A>G (p.Lys619Arg) | |
2 | g.162435320T>G | CA349220918 | KCNH7 | c.1832A>C (p.Lys611Thr) c.1811A>C (p.Lys604Thr) c.1532A>C (p.Lys511Thr) c.1505A>C (p.Lys502Thr) c.1856A>C (p.Lys619Thr) | |
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) |