Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.162435402T>A | CA349221102 | KCNH7 | c.1750A>T (p.Lys584Ter) c.1729A>T (p.Lys577Ter) c.1450A>T (p.Lys484Ter) c.1423A>T (p.Lys475Ter) c.1774A>T (p.Lys592Ter) | |
2 | g.162435402T>C | CA349221101 | KCNH7 | c.1750A>G (p.Lys584Glu) c.1729A>G (p.Lys577Glu) c.1450A>G (p.Lys484Glu) c.1423A>G (p.Lys475Glu) c.1774A>G (p.Lys592Glu) | |
2 | g.162435402T>G | CA349221100 | KCNH7 | c.1750A>C (p.Lys584Gln) c.1729A>C (p.Lys577Gln) c.1450A>C (p.Lys484Gln) c.1423A>C (p.Lys475Gln) c.1774A>C (p.Lys592Gln) | |
2 | g.162435403_162435404del | CA2700909896 | KCNH7 | c.1749_1750del (p.Asp583GlufsTer18) c.1728_1729del (p.Asp576GlufsTer18) c.1449_1450del (p.Asp483GlufsTer18) c.1422_1423del (p.Asp474GlufsTer18) c.1773_1774del (p.Asp591GlufsTer18) | dbSNP |
2 | g.162435403G>A | CA429731793 | KCNH7 | c.1749C>T (p.Asp583=) c.1728C>T (p.Asp576=) c.1449C>T (p.Asp483=) c.1422C>T (p.Asp474=) c.1773C>T (p.Asp591=) | gnomAD v4 |
2 | g.162435403G>C | CA349221103 | KCNH7 | c.1749C>G (p.Asp583Glu) c.1728C>G (p.Asp576Glu) c.1449C>G (p.Asp483Glu) c.1422C>G (p.Asp474Glu) c.1773C>G (p.Asp591Glu) | |
2 | g.162435403G= | CA1303221322 | KCNH7 | c.1749C= (p.Asp583=) c.1728C= (p.Asp576=) c.1449C= (p.Asp483=) c.1422C= (p.Asp474=) c.1773C= (p.Asp591=) | |
2 | g.162435403G>T | CA1935632 | KCNH7 | c.1749C>A (p.Asp583Glu) c.1728C>A (p.Asp576Glu) c.1449C>A (p.Asp483Glu) c.1422C>A (p.Asp474Glu) c.1773C>A (p.Asp591Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.162435404T>A | CA349221104 | KCNH7 | c.1748A>T (p.Asp583Val) c.1727A>T (p.Asp576Val) c.1448A>T (p.Asp483Val) c.1421A>T (p.Asp474Val) c.1772A>T (p.Asp591Val) | |
2 | g.162435404T>C | CA349221105 | KCNH7 | c.1748A>G (p.Asp583Gly) c.1727A>G (p.Asp576Gly) c.1448A>G (p.Asp483Gly) c.1421A>G (p.Asp474Gly) c.1772A>G (p.Asp591Gly) | gnomAD v4 |
2 | g.162435404T>G | CA349221106 | KCNH7 | c.1748A>C (p.Asp583Ala) c.1727A>C (p.Asp576Ala) c.1448A>C (p.Asp483Ala) c.1421A>C (p.Asp474Ala) c.1772A>C (p.Asp591Ala) | |
2 | g.162435405C>A | CA349221107 | KCNH7 | c.1747G>T (p.Asp583Tyr) c.1726G>T (p.Asp576Tyr) c.1447G>T (p.Asp483Tyr) c.1420G>T (p.Asp474Tyr) c.1771G>T (p.Asp591Tyr) | COSMIC COSMIC |
2 | g.162435405C>G | CA349221108 | KCNH7 | c.1747G>C (p.Asp583His) c.1726G>C (p.Asp576His) c.1447G>C (p.Asp483His) c.1420G>C (p.Asp474His) c.1771G>C (p.Asp591His) | |
2 | g.162435405C>T | CA349221109 | KCNH7 | c.1747G>A (p.Asp583Asn) c.1726G>A (p.Asp576Asn) c.1447G>A (p.Asp483Asn) c.1420G>A (p.Asp474Asn) c.1771G>A (p.Asp591Asn) | |
2 | g.162435406A>C | CA429731797 | KCNH7 | c.1746T>G (p.Thr582=) c.1725T>G (p.Thr575=) c.1446T>G (p.Thr482=) c.1419T>G (p.Thr473=) c.1770T>G (p.Thr590=) | |
2 | g.162435406A>G | CA429731799 | KCNH7 | c.1746T>C (p.Thr582=) c.1725T>C (p.Thr575=) c.1446T>C (p.Thr482=) c.1419T>C (p.Thr473=) c.1770T>C (p.Thr590=) | |
2 | g.162435406A>T | CA429731801 | KCNH7 | c.1746T>A (p.Thr582=) c.1725T>A (p.Thr575=) c.1446T>A (p.Thr482=) c.1419T>A (p.Thr473=) c.1770T>A (p.Thr590=) | |
2 | g.162435407G>A | CA1935633 | KCNH7 | c.1745C>T (p.Thr582Ile) c.1724C>T (p.Thr575Ile) c.1445C>T (p.Thr482Ile) c.1418C>T (p.Thr473Ile) c.1769C>T (p.Thr590Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162435407G>C | CA349221110 | KCNH7 | c.1745C>G (p.Thr582Ser) c.1724C>G (p.Thr575Ser) c.1445C>G (p.Thr482Ser) c.1418C>G (p.Thr473Ser) c.1769C>G (p.Thr590Ser) | |
2 | g.162435407G= | CA1303221324 | KCNH7 | c.1745C= (p.Thr582=) c.1724C= (p.Thr575=) c.1445C= (p.Thr482=) c.1418C= (p.Thr473=) c.1769C= (p.Thr590=) | |
2 | g.162435407G>T | CA349221111 | KCNH7 | c.1745C>A (p.Thr582Asn) c.1724C>A (p.Thr575Asn) c.1445C>A (p.Thr482Asn) c.1418C>A (p.Thr473Asn) c.1769C>A (p.Thr590Asn) | |
2 | g.162435408T>A | CA349221112 | KCNH7 | c.1744A>T (p.Thr582Ser) c.1723A>T (p.Thr575Ser) c.1444A>T (p.Thr482Ser) c.1417A>T (p.Thr473Ser) c.1768A>T (p.Thr590Ser) | |
2 | g.162435408T>C | CA349221113 | KCNH7 | c.1744A>G (p.Thr582Ala) c.1723A>G (p.Thr575Ala) c.1444A>G (p.Thr482Ala) c.1417A>G (p.Thr473Ala) c.1768A>G (p.Thr590Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162435408T>G | CA349221114 | KCNH7 | c.1744A>C (p.Thr582Pro) c.1723A>C (p.Thr575Pro) c.1444A>C (p.Thr482Pro) c.1417A>C (p.Thr473Pro) c.1768A>C (p.Thr590Pro) | |
2 | g.162435408T= | CA1303221327 | KCNH7 | c.1744A= (p.Thr582=) c.1723A= (p.Thr575=) c.1444A= (p.Thr482=) c.1417A= (p.Thr473=) c.1768A= (p.Thr590=) | |
2 | g.162435409C>A | CA429731804 | KCNH7 | c.1743G>T (p.Leu581=) c.1722G>T (p.Leu574=) c.1443G>T (p.Leu481=) c.1416G>T (p.Leu472=) c.1767G>T (p.Leu589=) | |
2 | g.162435409C>G | CA429731805 | KCNH7 | c.1743G>C (p.Leu581=) c.1722G>C (p.Leu574=) c.1443G>C (p.Leu481=) c.1416G>C (p.Leu472=) c.1767G>C (p.Leu589=) | |
2 | g.162435409C>T | CA429731803 | KCNH7 | c.1743G>A (p.Leu581=) c.1722G>A (p.Leu574=) c.1443G>A (p.Leu481=) c.1416G>A (p.Leu472=) c.1767G>A (p.Leu589=) | gnomAD v4 |
2 | g.162435410A= | CA1303221328 | KCNH7 | c.1742T= (p.Leu581=) c.1721T= (p.Leu574=) c.1442T= (p.Leu481=) c.1415T= (p.Leu472=) c.1766T= (p.Leu589=) | |
2 | g.162435410A>C | CA349221116 | KCNH7 | c.1742T>G (p.Leu581Arg) c.1721T>G (p.Leu574Arg) c.1442T>G (p.Leu481Arg) c.1415T>G (p.Leu472Arg) c.1766T>G (p.Leu589Arg) | |
2 | g.162435410A>G | CA349221115 | KCNH7 | c.1742T>C (p.Leu581Pro) c.1721T>C (p.Leu574Pro) c.1442T>C (p.Leu481Pro) c.1415T>C (p.Leu472Pro) c.1766T>C (p.Leu589Pro) | gnomAD v4 |
2 | g.162435410A>T | CA1935634 | KCNH7 | c.1742T>A (p.Leu581Gln) c.1721T>A (p.Leu574Gln) c.1442T>A (p.Leu481Gln) c.1415T>A (p.Leu472Gln) c.1766T>A (p.Leu589Gln) | dbSNP ExAC gnomAD v2 |
2 | g.162435411G>A | CA429731807 | KCNH7 | c.1741C>T (p.Leu581=) c.1720C>T (p.Leu574=) c.1441C>T (p.Leu481=) c.1414C>T (p.Leu472=) c.1765C>T (p.Leu589=) | |
2 | g.162435411G>C | CA349221117 | KCNH7 | c.1741C>G (p.Leu581Val) c.1720C>G (p.Leu574Val) c.1441C>G (p.Leu481Val) c.1414C>G (p.Leu472Val) c.1765C>G (p.Leu589Val) | |
2 | g.162435411G>T | CA349221118 | KCNH7 | c.1741C>A (p.Leu581Met) c.1720C>A (p.Leu574Met) c.1441C>A (p.Leu481Met) c.1414C>A (p.Leu472Met) c.1765C>A (p.Leu589Met) | |
2 | g.162435412G>A | CA1935635 | KCNH7 | c.1740C>T (p.Tyr580=) c.1719C>T (p.Tyr573=) c.1440C>T (p.Tyr480=) c.1413C>T (p.Tyr471=) c.1764C>T (p.Tyr588=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162435412G>C | CA349221119 | KCNH7 | c.1740C>G (p.Tyr580Ter) c.1719C>G (p.Tyr573Ter) c.1440C>G (p.Tyr480Ter) c.1413C>G (p.Tyr471Ter) c.1764C>G (p.Tyr588Ter) | |
2 | g.162435412G= | CA1303221329 | KCNH7 | c.1740C= (p.Tyr580=) c.1719C= (p.Tyr573=) c.1440C= (p.Tyr480=) c.1413C= (p.Tyr471=) c.1764C= (p.Tyr588=) | |
2 | g.162435412G>T | CA349221120 | KCNH7 | c.1740C>A (p.Tyr580Ter) c.1719C>A (p.Tyr573Ter) c.1440C>A (p.Tyr480Ter) c.1413C>A (p.Tyr471Ter) c.1764C>A (p.Tyr588Ter) | |
2 | g.162435413T>A | CA349221121 | KCNH7 | c.1739A>T (p.Tyr580Phe) c.1718A>T (p.Tyr573Phe) c.1439A>T (p.Tyr480Phe) c.1412A>T (p.Tyr471Phe) c.1763A>T (p.Tyr588Phe) | |
2 | g.162435413T>C | CA349221122 | KCNH7 | c.1739A>G (p.Tyr580Cys) c.1718A>G (p.Tyr573Cys) c.1439A>G (p.Tyr480Cys) c.1412A>G (p.Tyr471Cys) c.1763A>G (p.Tyr588Cys) | |
2 | g.162435413T>G | CA349221123 | KCNH7 | c.1739A>C (p.Tyr580Ser) c.1718A>C (p.Tyr573Ser) c.1439A>C (p.Tyr480Ser) c.1412A>C (p.Tyr471Ser) c.1763A>C (p.Tyr588Ser) | |
2 | g.162435414A= | CA1303221330 | KCNH7 | c.1738T= (p.Tyr580=) c.1717T= (p.Tyr573=) c.1438T= (p.Tyr480=) c.1411T= (p.Tyr471=) c.1762T= (p.Tyr588=) | |
2 | g.162435414A>C | CA349221124 | KCNH7 | c.1738T>G (p.Tyr580Asp) c.1717T>G (p.Tyr573Asp) c.1438T>G (p.Tyr480Asp) c.1411T>G (p.Tyr471Asp) c.1762T>G (p.Tyr588Asp) | |
2 | g.162435414A>G | CA349221125 | KCNH7 | c.1738T>C (p.Tyr580His) c.1717T>C (p.Tyr573His) c.1438T>C (p.Tyr480His) c.1411T>C (p.Tyr471His) c.1762T>C (p.Tyr588His) | |
2 | g.162435414A>T | CA349221126 | KCNH7 | c.1738T>A (p.Tyr580Asn) c.1717T>A (p.Tyr573Asn) c.1438T>A (p.Tyr480Asn) c.1411T>A (p.Tyr471Asn) c.1762T>A (p.Tyr588Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.162435415A>C | CA429731811 | KCNH7 | c.1737T>G (p.Pro579=) c.1716T>G (p.Pro572=) c.1437T>G (p.Pro479=) c.1410T>G (p.Pro470=) c.1761T>G (p.Pro587=) | |
2 | g.162435415A>G | CA429731810 | KCNH7 | c.1737T>C (p.Pro579=) c.1716T>C (p.Pro572=) c.1437T>C (p.Pro479=) c.1410T>C (p.Pro470=) c.1761T>C (p.Pro587=) | |
2 | g.162435415A>T | CA429731809 | KCNH7 | c.1737T>A (p.Pro579=) c.1716T>A (p.Pro572=) c.1437T>A (p.Pro479=) c.1410T>A (p.Pro470=) c.1761T>A (p.Pro587=) | |
2 | g.162435416G>A | CA349221128 | KCNH7 | c.1736C>T (p.Pro579Leu) c.1715C>T (p.Pro572Leu) c.1436C>T (p.Pro479Leu) c.1409C>T (p.Pro470Leu) c.1760C>T (p.Pro587Leu) | |
2 | g.162435416G>C | CA349221129 | KCNH7 | c.1736C>G (p.Pro579Arg) c.1715C>G (p.Pro572Arg) c.1436C>G (p.Pro479Arg) c.1409C>G (p.Pro470Arg) c.1760C>G (p.Pro587Arg) | |
2 | g.162435416G>T | CA349221127 | KCNH7 | c.1736C>A (p.Pro579His) c.1715C>A (p.Pro572His) c.1436C>A (p.Pro479His) c.1409C>A (p.Pro470His) c.1760C>A (p.Pro587His) | |
2 | g.162435417G>A | CA349221130 | KCNH7 | c.1735C>T (p.Pro579Ser) c.1714C>T (p.Pro572Ser) c.1435C>T (p.Pro479Ser) c.1408C>T (p.Pro470Ser) c.1759C>T (p.Pro587Ser) | gnomAD v4 |
2 | g.162435417G>C | CA59809372 | KCNH7 | c.1735C>G (p.Pro579Ala) c.1714C>G (p.Pro572Ala) c.1435C>G (p.Pro479Ala) c.1408C>G (p.Pro470Ala) c.1759C>G (p.Pro587Ala) | dbSNP gnomAD v4 |
2 | g.162435417G= | CA1303221331 | KCNH7 | c.1735C= (p.Pro579=) c.1714C= (p.Pro572=) c.1435C= (p.Pro479=) c.1408C= (p.Pro470=) c.1759C= (p.Pro587=) | |
2 | g.162435417G>T | CA349221131 | KCNH7 | c.1735C>A (p.Pro579Thr) c.1714C>A (p.Pro572Thr) c.1435C>A (p.Pro479Thr) c.1408C>A (p.Pro470Thr) c.1759C>A (p.Pro587Thr) | |
2 | g.162435418C>A | CA349221132 | KCNH7 | c.1734G>T (p.Arg578Ser) c.1713G>T (p.Arg571Ser) c.1434G>T (p.Arg478Ser) c.1407G>T (p.Arg469Ser) c.1758G>T (p.Arg586Ser) | |
2 | g.162435418C>G | CA349221133 | KCNH7 | c.1734G>C (p.Arg578Ser) c.1713G>C (p.Arg571Ser) c.1434G>C (p.Arg478Ser) c.1407G>C (p.Arg469Ser) c.1758G>C (p.Arg586Ser) | gnomAD v4 |
2 | g.162435418C>T | CA429731813 | KCNH7 | c.1734G>A (p.Arg578=) c.1713G>A (p.Arg571=) c.1434G>A (p.Arg478=) c.1407G>A (p.Arg469=) c.1758G>A (p.Arg586=) | gnomAD v4 |
2 | g.162435419C>A | CA349221136 | KCNH7 | c.1733G>T (p.Arg578Met) c.1712G>T (p.Arg571Met) c.1433G>T (p.Arg478Met) c.1406G>T (p.Arg469Met) c.1757G>T (p.Arg586Met) | |
2 | g.162435419C= | CA1303221332 | KCNH7 | c.1733G= (p.Arg578=) c.1712G= (p.Arg571=) c.1433G= (p.Arg478=) c.1406G= (p.Arg469=) c.1757G= (p.Arg586=) | |
2 | g.162435419C>G | CA349221135 | KCNH7 | c.1733G>C (p.Arg578Thr) c.1712G>C (p.Arg571Thr) c.1433G>C (p.Arg478Thr) c.1406G>C (p.Arg469Thr) c.1757G>C (p.Arg586Thr) | |
2 | g.162435419C>T | CA349221134 | KCNH7 | c.1733G>A (p.Arg578Lys) c.1712G>A (p.Arg571Lys) c.1433G>A (p.Arg478Lys) c.1406G>A (p.Arg469Lys) c.1757G>A (p.Arg586Lys) | |
2 | g.162435420T>A | CA349221137 | KCNH7 | c.1732A>T (p.Arg578Trp) c.1711A>T (p.Arg571Trp) c.1432A>T (p.Arg478Trp) c.1405A>T (p.Arg469Trp) c.1756A>T (p.Arg586Trp) | COSMIC COSMIC |
2 | g.162435420T>C | CA349221138 | KCNH7 | c.1732A>G (p.Arg578Gly) c.1711A>G (p.Arg571Gly) c.1432A>G (p.Arg478Gly) c.1405A>G (p.Arg469Gly) c.1756A>G (p.Arg586Gly) | gnomAD v4 |
2 | g.162435420T>G | CA429731816 | KCNH7 | c.1732A>C (p.Arg578=) c.1711A>C (p.Arg571=) c.1432A>C (p.Arg478=) c.1405A>C (p.Arg469=) c.1756A>C (p.Arg586=) | |
2 | g.162435424_162435425insCTTCTGTTGTCTATTAGGATAGAATAATACCTTGAAATTAATATTTCT | CA1935636 | KCNH7 | c.1732_1733insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA (p.Glu577_Arg578insIleLeuIleSerArgTyrTyrSerIleLeuIleAspAsnArgArgGlu) c.1711_1712insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA (p.Glu570_Arg571insIleLeuIleSerArgTyrTyrSerIleLeuIleAspAsnArgArgGlu) c.1432_1433insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA (p.Glu477_Arg478insIleLeuIleSerArgTyrTyrSerIleLeuIleAspAsnArgArgGlu) c.1405_1406insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA (p.Glu468_Arg469insIleLeuIleSerArgTyrTyrSerIleLeuIleAspAsnArgArgGlu) c.1756_1757insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA (p.Glu585_Arg586insIleLeuIleSerArgTyrTyrSerIleLeuIleAspAsnArgArgGlu) | dbSNP ExAC |
2 | g.162435421T>A | CA349221139 | KCNH7 | c.1731A>T (p.Glu577Asp) c.1710A>T (p.Glu570Asp) c.1431A>T (p.Glu477Asp) c.1404A>T (p.Glu468Asp) c.1755A>T (p.Glu585Asp) | |
2 | g.162435421T>C | CA1935637 | KCNH7 | c.1731A>G (p.Glu577=) c.1710A>G (p.Glu570=) c.1431A>G (p.Glu477=) c.1404A>G (p.Glu468=) c.1755A>G (p.Glu585=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162435421T>G | CA349221140 | KCNH7 | c.1731A>C (p.Glu577Asp) c.1710A>C (p.Glu570Asp) c.1431A>C (p.Glu477Asp) c.1404A>C (p.Glu468Asp) c.1755A>C (p.Glu585Asp) | |
2 | g.162435421T= | CA1303221339 | KCNH7 | c.1731A= (p.Glu577=) c.1710A= (p.Glu570=) c.1431A= (p.Glu477=) c.1404A= (p.Glu468=) c.1755A= (p.Glu585=) | |
2 | g.162435422T>A | CA349221141 | KCNH7 | c.1730A>T (p.Glu577Val) c.1709A>T (p.Glu570Val) c.1430A>T (p.Glu477Val) c.1403A>T (p.Glu468Val) c.1754A>T (p.Glu585Val) | |
2 | g.162435422T>C | CA349221143 | KCNH7 | c.1730A>G (p.Glu577Gly) c.1709A>G (p.Glu570Gly) c.1430A>G (p.Glu477Gly) c.1403A>G (p.Glu468Gly) c.1754A>G (p.Glu585Gly) | gnomAD v4 |
2 | g.162435422T>G | CA349221142 | KCNH7 | c.1730A>C (p.Glu577Ala) c.1709A>C (p.Glu570Ala) c.1430A>C (p.Glu477Ala) c.1403A>C (p.Glu468Ala) c.1754A>C (p.Glu585Ala) | |
2 | g.162435423C>A | CA349221144 | KCNH7 | c.1729G>T (p.Glu577Ter) c.1708G>T (p.Glu570Ter) c.1429G>T (p.Glu477Ter) c.1402G>T (p.Glu468Ter) c.1753G>T (p.Glu585Ter) | |
2 | g.162435423C>G | CA349221145 | KCNH7 | c.1729G>C (p.Glu577Gln) c.1708G>C (p.Glu570Gln) c.1429G>C (p.Glu477Gln) c.1402G>C (p.Glu468Gln) c.1753G>C (p.Glu585Gln) | |
2 | g.162435423C>T | CA349221146 | KCNH7 | c.1729G>A (p.Glu577Lys) c.1708G>A (p.Glu570Lys) c.1429G>A (p.Glu477Lys) c.1402G>A (p.Glu468Lys) c.1753G>A (p.Glu585Lys) | COSMIC COSMIC |
2 | g.162435424T>A | CA429731820 | KCNH7 | c.1728A>T (p.Val576=) c.1707A>T (p.Val569=) c.1428A>T (p.Val476=) c.1401A>T (p.Val467=) c.1752A>T (p.Val584=) | |
2 | g.162435424T>C | CA1935638 | KCNH7 | c.1728A>G (p.Val576=) c.1707A>G (p.Val569=) c.1428A>G (p.Val476=) c.1401A>G (p.Val467=) c.1752A>G (p.Val584=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162435424T>G | CA429731821 | KCNH7 | c.1728A>C (p.Val576=) c.1707A>C (p.Val569=) c.1428A>C (p.Val476=) c.1401A>C (p.Val467=) c.1752A>C (p.Val584=) | |
2 | g.162435424T= | CA1303221341 | KCNH7 | c.1728A= (p.Val576=) c.1707A= (p.Val569=) c.1428A= (p.Val476=) c.1401A= (p.Val467=) c.1752A= (p.Val584=) | |
2 | g.162435425A>C | CA349221147 | KCNH7 | c.1727T>G (p.Val576Gly) c.1706T>G (p.Val569Gly) c.1427T>G (p.Val476Gly) c.1400T>G (p.Val467Gly) c.1751T>G (p.Val584Gly) | |
2 | g.162435425A>G | CA349221148 | KCNH7 | c.1727T>C (p.Val576Ala) c.1706T>C (p.Val569Ala) c.1427T>C (p.Val476Ala) c.1400T>C (p.Val467Ala) c.1751T>C (p.Val584Ala) | dbSNP gnomAD v4 |
2 | g.162435425A>T | CA349221149 | KCNH7 | c.1727T>A (p.Val576Glu) c.1706T>A (p.Val569Glu) c.1427T>A (p.Val476Glu) c.1400T>A (p.Val467Glu) c.1751T>A (p.Val584Glu) | |
2 | g.162435426C>A | CA349221150 | KCNH7 | c.1726G>T (p.Val576Leu) c.1705G>T (p.Val569Leu) c.1426G>T (p.Val476Leu) c.1399G>T (p.Val467Leu) c.1750G>T (p.Val584Leu) | |
2 | g.162435426C= | CA1303221344 | KCNH7 | c.1726G= (p.Val576=) c.1705G= (p.Val569=) c.1426G= (p.Val476=) c.1399G= (p.Val467=) c.1750G= (p.Val584=) | |
2 | g.162435426C>G | CA349221151 | KCNH7 | c.1726G>C (p.Val576Leu) c.1705G>C (p.Val569Leu) c.1426G>C (p.Val476Leu) c.1399G>C (p.Val467Leu) c.1750G>C (p.Val584Leu) | |
2 | g.162435426C>T | CA59809375 | KCNH7 | c.1726G>A (p.Val576Ile) c.1705G>A (p.Val569Ile) c.1426G>A (p.Val476Ile) c.1399G>A (p.Val467Ile) c.1750G>A (p.Val584Ile) | dbSNP gnomAD v4 |
2 | g.162435427A= | CA1303221345 | KCNH7 | c.1725T= (p.Asn575=) c.1704T= (p.Asn568=) c.1425T= (p.Asn475=) c.1398T= (p.Asn466=) c.1749T= (p.Asn583=) | |
2 | g.162435427A>C | CA349221152 | KCNH7 | c.1725T>G (p.Asn575Lys) c.1704T>G (p.Asn568Lys) c.1425T>G (p.Asn475Lys) c.1398T>G (p.Asn466Lys) c.1749T>G (p.Asn583Lys) | |
2 | g.162435427A>G | CA1935639 | KCNH7 | c.1725T>C (p.Asn575=) c.1704T>C (p.Asn568=) c.1425T>C (p.Asn475=) c.1398T>C (p.Asn466=) c.1749T>C (p.Asn583=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162435427A>T | CA349221153 | KCNH7 | c.1725T>A (p.Asn575Lys) c.1704T>A (p.Asn568Lys) c.1425T>A (p.Asn475Lys) c.1398T>A (p.Asn466Lys) c.1749T>A (p.Asn583Lys) | dbSNP |
2 | g.162435428T>A | CA349221155 | KCNH7 | c.1724A>T (p.Asn575Ile) c.1703A>T (p.Asn568Ile) c.1424A>T (p.Asn475Ile) c.1397A>T (p.Asn466Ile) c.1748A>T (p.Asn583Ile) | |
2 | g.162435428T>C | CA349221156 | KCNH7 | c.1724A>G (p.Asn575Ser) c.1703A>G (p.Asn568Ser) c.1424A>G (p.Asn475Ser) c.1397A>G (p.Asn466Ser) c.1748A>G (p.Asn583Ser) | |
2 | g.162435428T>G | CA349221154 | KCNH7 | c.1724A>C (p.Asn575Thr) c.1703A>C (p.Asn568Thr) c.1424A>C (p.Asn475Thr) c.1397A>C (p.Asn466Thr) c.1748A>C (p.Asn583Thr) | |
2 | g.162435429T>A | CA349221157 | KCNH7 | c.1723A>T (p.Asn575Tyr) c.1702A>T (p.Asn568Tyr) c.1423A>T (p.Asn475Tyr) c.1396A>T (p.Asn466Tyr) c.1747A>T (p.Asn583Tyr) | |
2 | g.162435429T>C | CA349221159 | KCNH7 | c.1723A>G (p.Asn575Asp) c.1702A>G (p.Asn568Asp) c.1423A>G (p.Asn475Asp) c.1396A>G (p.Asn466Asp) c.1747A>G (p.Asn583Asp) | dbSNP |
2 | g.162435429T>G | CA349221158 | KCNH7 | c.1723A>C (p.Asn575His) c.1702A>C (p.Asn568His) c.1423A>C (p.Asn475His) c.1396A>C (p.Asn466His) c.1747A>C (p.Asn583His) | |
2 | g.162435429T= | CA1303221346 | KCNH7 | c.1723A= (p.Asn575=) c.1702A= (p.Asn568=) c.1423A= (p.Asn475=) c.1396A= (p.Asn466=) c.1747A= (p.Asn583=) | |
2 | g.162435430C>A | CA429731826 | KCNH7 | c.1722G>T (p.Gly574=) c.1701G>T (p.Gly567=) c.1422G>T (p.Gly474=) c.1395G>T (p.Gly465=) c.1746G>T (p.Gly582=) | |
2 | g.162435430C= | CA1303221347 | KCNH7 | c.1722G= (p.Gly574=) c.1701G= (p.Gly567=) c.1422G= (p.Gly474=) c.1395G= (p.Gly465=) c.1746G= (p.Gly582=) | |
2 | g.162435430C>G | CA429731828 | KCNH7 | c.1722G>C (p.Gly574=) c.1701G>C (p.Gly567=) c.1422G>C (p.Gly474=) c.1395G>C (p.Gly465=) c.1746G>C (p.Gly582=) | |
2 | g.162435430C>T | CA1935640 | KCNH7 | c.1722G>A (p.Gly574=) c.1701G>A (p.Gly567=) c.1422G>A (p.Gly474=) c.1395G>A (p.Gly465=) c.1746G>A (p.Gly582=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162435431C>A | CA349221160 | KCNH7 | c.1721G>T (p.Gly574Val) c.1700G>T (p.Gly567Val) c.1421G>T (p.Gly474Val) c.1394G>T (p.Gly465Val) c.1745G>T (p.Gly582Val) | |
2 | g.162435431C>G | CA349221161 | KCNH7 | c.1721G>C (p.Gly574Ala) c.1700G>C (p.Gly567Ala) c.1421G>C (p.Gly474Ala) c.1394G>C (p.Gly465Ala) c.1745G>C (p.Gly582Ala) | |
2 | g.162435431C>T | CA349221162 | KCNH7 | c.1721G>A (p.Gly574Glu) c.1700G>A (p.Gly567Glu) c.1421G>A (p.Gly474Glu) c.1394G>A (p.Gly465Glu) c.1745G>A (p.Gly582Glu) | |
2 | g.162435432C>A | CA349221163 | KCNH7 | c.1720G>T (p.Gly574Trp) c.1699G>T (p.Gly567Trp) c.1420G>T (p.Gly474Trp) c.1393G>T (p.Gly465Trp) c.1744G>T (p.Gly582Trp) | |
2 | g.162435432C>G | CA349221164 | KCNH7 | c.1720G>C (p.Gly574Arg) c.1699G>C (p.Gly567Arg) c.1420G>C (p.Gly474Arg) c.1393G>C (p.Gly465Arg) c.1744G>C (p.Gly582Arg) | |
2 | g.162435432C>T | CA349221165 | KCNH7 | c.1720G>A (p.Gly574Arg) c.1699G>A (p.Gly567Arg) c.1420G>A (p.Gly474Arg) c.1393G>A (p.Gly465Arg) c.1744G>A (p.Gly582Arg) | |
2 | g.162435433A>C | CA349221166 | KCNH7 | c.1719T>G (p.Ile573Met) c.1698T>G (p.Ile566Met) c.1419T>G (p.Ile473Met) c.1392T>G (p.Ile464Met) c.1743T>G (p.Ile581Met) | |
2 | g.162435433A>G | CA429731830 | KCNH7 | c.1719T>C (p.Ile573=) c.1698T>C (p.Ile566=) c.1419T>C (p.Ile473=) c.1392T>C (p.Ile464=) c.1743T>C (p.Ile581=) | |
2 | g.162435433A>T | CA429731831 | KCNH7 | c.1719T>A (p.Ile573=) c.1698T>A (p.Ile566=) c.1419T>A (p.Ile473=) c.1392T>A (p.Ile464=) c.1743T>A (p.Ile581=) | |
2 | g.162435434A>C | CA349221167 | KCNH7 | c.1718T>G (p.Ile573Ser) c.1697T>G (p.Ile566Ser) c.1418T>G (p.Ile473Ser) c.1391T>G (p.Ile464Ser) c.1742T>G (p.Ile581Ser) | |
2 | g.162435434A>G | CA349221168 | KCNH7 | c.1718T>C (p.Ile573Thr) c.1697T>C (p.Ile566Thr) c.1418T>C (p.Ile473Thr) c.1391T>C (p.Ile464Thr) c.1742T>C (p.Ile581Thr) | COSMIC COSMIC |
2 | g.162435434A>T | CA349221169 | KCNH7 | c.1718T>A (p.Ile573Asn) c.1697T>A (p.Ile566Asn) c.1418T>A (p.Ile473Asn) c.1391T>A (p.Ile464Asn) c.1742T>A (p.Ile581Asn) | |
2 | g.162435435T>A | CA349221172 | KCNH7 | c.1717A>T (p.Ile573Phe) c.1696A>T (p.Ile566Phe) c.1417A>T (p.Ile473Phe) c.1390A>T (p.Ile464Phe) c.1741A>T (p.Ile581Phe) | |
2 | g.162435435T>C | CA349221171 | KCNH7 | c.1717A>G (p.Ile573Val) c.1696A>G (p.Ile566Val) c.1417A>G (p.Ile473Val) c.1390A>G (p.Ile464Val) c.1741A>G (p.Ile581Val) | dbSNP |
2 | g.162435435T>G | CA349221170 | KCNH7 | c.1717A>C (p.Ile573Leu) c.1696A>C (p.Ile566Leu) c.1417A>C (p.Ile473Leu) c.1390A>C (p.Ile464Leu) c.1741A>C (p.Ile581Leu) | |
2 | g.162435435T= | CA1303221348 | KCNH7 | c.1717A= (p.Ile573=) c.1696A= (p.Ile566=) c.1417A= (p.Ile473=) c.1390A= (p.Ile464=) c.1741A= (p.Ile581=) | |
2 | g.162435436C>A | CA429731834 | KCNH7 | c.1716G>T (p.Ala572=) c.1695G>T (p.Ala565=) c.1416G>T (p.Ala472=) c.1389G>T (p.Ala463=) c.1740G>T (p.Ala580=) | |
2 | g.162435436C= | CA1303221349 | KCNH7 | c.1716G= (p.Ala572=) c.1695G= (p.Ala565=) c.1416G= (p.Ala472=) c.1389G= (p.Ala463=) c.1740G= (p.Ala580=) | |
2 | g.162435436C>G | CA429731835 | KCNH7 | c.1716G>C (p.Ala572=) c.1695G>C (p.Ala565=) c.1416G>C (p.Ala472=) c.1389G>C (p.Ala463=) c.1740G>C (p.Ala580=) | gnomAD v4 |
2 | g.162435436C>T | CA1935641 | KCNH7 | c.1716G>A (p.Ala572=) c.1695G>A (p.Ala565=) c.1416G>A (p.Ala472=) c.1389G>A (p.Ala463=) c.1740G>A (p.Ala580=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.162435437G>A | CA349221173 | KCNH7 | c.1715C>T (p.Ala572Val) c.1694C>T (p.Ala565Val) c.1415C>T (p.Ala472Val) c.1388C>T (p.Ala463Val) c.1739C>T (p.Ala580Val) | COSMIC COSMIC |
2 | g.162435437G>C | CA349221174 | KCNH7 | c.1715C>G (p.Ala572Gly) c.1694C>G (p.Ala565Gly) c.1415C>G (p.Ala472Gly) c.1388C>G (p.Ala463Gly) c.1739C>G (p.Ala580Gly) | |
2 | g.162435437G>T | CA349221175 | KCNH7 | c.1715C>A (p.Ala572Glu) c.1694C>A (p.Ala565Glu) c.1415C>A (p.Ala472Glu) c.1388C>A (p.Ala463Glu) c.1739C>A (p.Ala580Glu) | |
2 | g.162435438C>A | CA349221176 | KCNH7 | c.1714G>T (p.Ala572Ser) c.1693G>T (p.Ala565Ser) c.1414G>T (p.Ala472Ser) c.1387G>T (p.Ala463Ser) c.1738G>T (p.Ala580Ser) | |
2 | g.162435438C>G | CA349221177 | KCNH7 | c.1714G>C (p.Ala572Pro) c.1693G>C (p.Ala565Pro) c.1414G>C (p.Ala472Pro) c.1387G>C (p.Ala463Pro) c.1738G>C (p.Ala580Pro) | |
2 | g.162435438C>T | CA349221178 | KCNH7 | c.1714G>A (p.Ala572Thr) c.1693G>A (p.Ala565Thr) c.1414G>A (p.Ala472Thr) c.1387G>A (p.Ala463Thr) c.1738G>A (p.Ala580Thr) | gnomAD v4 |
2 | g.162435439A>C | CA349221179 | KCNH7 | c.1713T>G (p.Tyr571Ter) c.1692T>G (p.Tyr564Ter) c.1413T>G (p.Tyr471Ter) c.1386T>G (p.Tyr462Ter) c.1737T>G (p.Tyr579Ter) | |
2 | g.162435439A>G | CA429731841 | KCNH7 | c.1713T>C (p.Tyr571=) c.1692T>C (p.Tyr564=) c.1413T>C (p.Tyr471=) c.1386T>C (p.Tyr462=) c.1737T>C (p.Tyr579=) | |
2 | g.162435439A>T | CA349221180 | KCNH7 | c.1713T>A (p.Tyr571Ter) c.1692T>A (p.Tyr564Ter) c.1413T>A (p.Tyr471Ter) c.1386T>A (p.Tyr462Ter) c.1737T>A (p.Tyr579Ter) | |
2 | g.162435440T>A | CA349221181 | KCNH7 | c.1712A>T (p.Tyr571Phe) c.1691A>T (p.Tyr564Phe) c.1412A>T (p.Tyr471Phe) c.1385A>T (p.Tyr462Phe) c.1736A>T (p.Tyr579Phe) | |
2 | g.162435440T>C | CA349221182 | KCNH7 | c.1712A>G (p.Tyr571Cys) c.1691A>G (p.Tyr564Cys) c.1412A>G (p.Tyr471Cys) c.1385A>G (p.Tyr462Cys) c.1736A>G (p.Tyr579Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.162435440T>G | CA349221183 | KCNH7 | c.1712A>C (p.Tyr571Ser) c.1691A>C (p.Tyr564Ser) c.1412A>C (p.Tyr471Ser) c.1385A>C (p.Tyr462Ser) c.1736A>C (p.Tyr579Ser) | |
2 | g.162435440T= | CA1303221350 | KCNH7 | c.1712A= (p.Tyr571=) c.1691A= (p.Tyr564=) c.1412A= (p.Tyr471=) c.1385A= (p.Tyr462=) c.1736A= (p.Tyr579=) | |
2 | g.162435441A>C | CA349221186 | KCNH7 | c.1711T>G (p.Tyr571Asp) c.1690T>G (p.Tyr564Asp) c.1411T>G (p.Tyr471Asp) c.1384T>G (p.Tyr462Asp) c.1735T>G (p.Tyr579Asp) | |
2 | g.162435441A>G | CA349221185 | KCNH7 | c.1711T>C (p.Tyr571His) c.1690T>C (p.Tyr564His) c.1411T>C (p.Tyr471His) c.1384T>C (p.Tyr462His) c.1735T>C (p.Tyr579His) | |
2 | g.162435441A>T | CA349221184 | KCNH7 | c.1711T>A (p.Tyr571Asn) c.1690T>A (p.Tyr564Asn) c.1411T>A (p.Tyr471Asn) c.1384T>A (p.Tyr462Asn) c.1735T>A (p.Tyr579Asn) | |
2 | g.162435442C>A | CA349221189 | KCNH7 | c.1710G>T (p.Trp570Cys) c.1689G>T (p.Trp563Cys) c.1410G>T (p.Trp470Cys) c.1383G>T (p.Trp461Cys) c.1734G>T (p.Trp578Cys) | |
2 | g.162435442C>G | CA349221187 | KCNH7 | c.1710G>C (p.Trp570Cys) c.1689G>C (p.Trp563Cys) c.1410G>C (p.Trp470Cys) c.1383G>C (p.Trp461Cys) c.1734G>C (p.Trp578Cys) | |
2 | g.162435442C>T | CA349221188 | KCNH7 | c.1710G>A (p.Trp570Ter) c.1689G>A (p.Trp563Ter) c.1410G>A (p.Trp470Ter) c.1383G>A (p.Trp461Ter) c.1734G>A (p.Trp578Ter) | |
2 | g.162435443C>A | CA349221190 | KCNH7 | c.1709G>T (p.Trp570Leu) c.1688G>T (p.Trp563Leu) c.1409G>T (p.Trp470Leu) c.1382G>T (p.Trp461Leu) c.1733G>T (p.Trp578Leu) | dbSNP |
2 | g.162435443C= | CA1303221351 | KCNH7 | c.1709G= (p.Trp570=) c.1688G= (p.Trp563=) c.1409G= (p.Trp470=) c.1382G= (p.Trp461=) c.1733G= (p.Trp578=) | |
2 | g.162435443C>G | CA349221191 | KCNH7 | c.1709G>C (p.Trp570Ser) c.1688G>C (p.Trp563Ser) c.1409G>C (p.Trp470Ser) c.1382G>C (p.Trp461Ser) c.1733G>C (p.Trp578Ser) | |
2 | g.162435443C>T | CA349221192 | KCNH7 | c.1709G>A (p.Trp570Ter) c.1688G>A (p.Trp563Ter) c.1409G>A (p.Trp470Ter) c.1382G>A (p.Trp461Ter) c.1733G>A (p.Trp578Ter) | |
2 | g.162435444A>C | CA349221193 | KCNH7 | c.1708T>G (p.Trp570Gly) c.1687T>G (p.Trp563Gly) c.1408T>G (p.Trp470Gly) c.1381T>G (p.Trp461Gly) c.1732T>G (p.Trp578Gly) | |
2 | g.162435444A>G | CA349221194 | KCNH7 | c.1708T>C (p.Trp570Arg) c.1687T>C (p.Trp563Arg) c.1408T>C (p.Trp470Arg) c.1381T>C (p.Trp461Arg) c.1732T>C (p.Trp578Arg) | |
2 | g.162435444A>T | CA349221195 | KCNH7 | c.1708T>A (p.Trp570Arg) c.1687T>A (p.Trp563Arg) c.1408T>A (p.Trp470Arg) c.1381T>A (p.Trp461Arg) c.1732T>A (p.Trp578Arg) | |
2 | g.162435445A>C | CA349221196 | KCNH7 | c.1707T>G (p.Ile569Met) c.1686T>G (p.Ile562Met) c.1407T>G (p.Ile469Met) c.1380T>G (p.Ile460Met) c.1731T>G (p.Ile577Met) | |
2 | g.162435445A>G | CA429731849 | KCNH7 | c.1707T>C (p.Ile569=) c.1686T>C (p.Ile562=) c.1407T>C (p.Ile469=) c.1380T>C (p.Ile460=) c.1731T>C (p.Ile577=) | |
2 | g.162435445A>T | CA429731848 | KCNH7 | c.1707T>A (p.Ile569=) c.1686T>A (p.Ile562=) c.1407T>A (p.Ile469=) c.1380T>A (p.Ile460=) c.1731T>A (p.Ile577=) | |
2 | g.162435446A>C | CA349221197 | KCNH7 | c.1706T>G (p.Ile569Ser) c.1685T>G (p.Ile562Ser) c.1406T>G (p.Ile469Ser) c.1379T>G (p.Ile460Ser) c.1730T>G (p.Ile577Ser) | |
2 | g.162435446A>G | CA349221198 | KCNH7 | c.1706T>C (p.Ile569Thr) c.1685T>C (p.Ile562Thr) c.1406T>C (p.Ile469Thr) c.1379T>C (p.Ile460Thr) c.1730T>C (p.Ile577Thr) | |
2 | g.162435446A>T | CA349221199 | KCNH7 | c.1706T>A (p.Ile569Asn) c.1685T>A (p.Ile562Asn) c.1406T>A (p.Ile469Asn) c.1379T>A (p.Ile460Asn) c.1730T>A (p.Ile577Asn) | |
2 | g.162435447T>A | CA349221201 | KCNH7 | c.1705A>T (p.Ile569Phe) c.1684A>T (p.Ile562Phe) c.1405A>T (p.Ile469Phe) c.1378A>T (p.Ile460Phe) c.1729A>T (p.Ile577Phe) | |
2 | g.162435447T>C | CA349221202 | KCNH7 | c.1705A>G (p.Ile569Val) c.1684A>G (p.Ile562Val) c.1405A>G (p.Ile469Val) c.1378A>G (p.Ile460Val) c.1729A>G (p.Ile577Val) | |
2 | g.162435447T>G | CA349221200 | KCNH7 | c.1705A>C (p.Ile569Leu) c.1684A>C (p.Ile562Leu) c.1405A>C (p.Ile469Leu) c.1378A>C (p.Ile460Leu) c.1729A>C (p.Ile577Leu) | |
2 | g.162435448G>A | CA429731851 | KCNH7 | c.1704C>T (p.Cys568=) c.1683C>T (p.Cys561=) c.1404C>T (p.Cys468=) c.1377C>T (p.Cys459=) c.1728C>T (p.Cys576=) | gnomAD v4 |
2 | g.162435448G>C | CA349221203 | KCNH7 | c.1704C>G (p.Cys568Trp) c.1683C>G (p.Cys561Trp) c.1404C>G (p.Cys468Trp) c.1377C>G (p.Cys459Trp) c.1728C>G (p.Cys576Trp) | |
2 | g.162435448G>T | CA349221204 | KCNH7 | c.1704C>A (p.Cys568Ter) c.1683C>A (p.Cys561Ter) c.1404C>A (p.Cys468Ter) c.1377C>A (p.Cys459Ter) c.1728C>A (p.Cys576Ter) | |
2 | g.162435449C>A | CA349221205 | KCNH7 | c.1703G>T (p.Cys568Phe) c.1682G>T (p.Cys561Phe) c.1403G>T (p.Cys468Phe) c.1376G>T (p.Cys459Phe) c.1727G>T (p.Cys576Phe) | |
2 | g.162435449C>G | CA349221206 | KCNH7 | c.1703G>C (p.Cys568Ser) c.1682G>C (p.Cys561Ser) c.1403G>C (p.Cys468Ser) c.1376G>C (p.Cys459Ser) c.1727G>C (p.Cys576Ser) | |
2 | g.162435449C>T | CA349221207 | KCNH7 | c.1703G>A (p.Cys568Tyr) c.1682G>A (p.Cys561Tyr) c.1403G>A (p.Cys468Tyr) c.1376G>A (p.Cys459Tyr) c.1727G>A (p.Cys576Tyr) | |
2 | g.162435450A>C | CA349221210 | KCNH7 | c.1702T>G (p.Cys568Gly) c.1681T>G (p.Cys561Gly) c.1402T>G (p.Cys468Gly) c.1375T>G (p.Cys459Gly) c.1726T>G (p.Cys576Gly) | |
2 | g.162435450A>G | CA349221208 | KCNH7 | c.1702T>C (p.Cys568Arg) c.1681T>C (p.Cys561Arg) c.1402T>C (p.Cys468Arg) c.1375T>C (p.Cys459Arg) c.1726T>C (p.Cys576Arg) | |
2 | g.162435450A>T | CA349221209 | KCNH7 | c.1702T>A (p.Cys568Ser) c.1681T>A (p.Cys561Ser) c.1402T>A (p.Cys468Ser) c.1375T>A (p.Cys459Ser) c.1726T>A (p.Cys576Ser) | |
2 | g.162435451A>C | CA429731856 | KCNH7 | c.1701T>G (p.Ala567=) c.1680T>G (p.Ala560=) c.1401T>G (p.Ala467=) c.1374T>G (p.Ala458=) c.1725T>G (p.Ala575=) | |
2 | g.162435451A>G | CA429731857 | KCNH7 | c.1701T>C (p.Ala567=) c.1680T>C (p.Ala560=) c.1401T>C (p.Ala467=) c.1374T>C (p.Ala458=) c.1725T>C (p.Ala575=) | |
2 | g.162435451A>T | CA429731858 | KCNH7 | c.1701T>A (p.Ala567=) c.1680T>A (p.Ala560=) c.1401T>A (p.Ala467=) c.1374T>A (p.Ala458=) c.1725T>A (p.Ala575=) | |
2 | g.162435452G>A | CA349221211 | KCNH7 | c.1700C>T (p.Ala567Val) c.1679C>T (p.Ala560Val) c.1400C>T (p.Ala467Val) c.1373C>T (p.Ala458Val) c.1724C>T (p.Ala575Val) | |
2 | g.162435452G>C | CA349221212 | KCNH7 | c.1700C>G (p.Ala567Gly) c.1679C>G (p.Ala560Gly) c.1400C>G (p.Ala467Gly) c.1373C>G (p.Ala458Gly) c.1724C>G (p.Ala575Gly) | |
2 | g.162435452G>T | CA349221213 | KCNH7 | c.1700C>A (p.Ala567Asp) c.1679C>A (p.Ala560Asp) c.1400C>A (p.Ala467Asp) c.1373C>A (p.Ala458Asp) c.1724C>A (p.Ala575Asp) | |
2 | g.162435453C>A | CA349221214 | KCNH7 | c.1699G>T (p.Ala567Ser) c.1678G>T (p.Ala560Ser) c.1399G>T (p.Ala467Ser) c.1372G>T (p.Ala458Ser) c.1723G>T (p.Ala575Ser) | |
2 | g.162435453C>G | CA349221215 | KCNH7 | c.1699G>C (p.Ala567Pro) c.1678G>C (p.Ala560Pro) c.1399G>C (p.Ala467Pro) c.1372G>C (p.Ala458Pro) c.1723G>C (p.Ala575Pro) | |
2 | g.162435453C>T | CA349221216 | KCNH7 | c.1699G>A (p.Ala567Thr) c.1678G>A (p.Ala560Thr) c.1399G>A (p.Ala467Thr) c.1372G>A (p.Ala458Thr) c.1723G>A (p.Ala575Thr) | |
2 | g.162435454C>A | CA429731861 | KCNH7 | c.1698G>T (p.Leu566=) c.1677G>T (p.Leu559=) c.1398G>T (p.Leu466=) c.1371G>T (p.Leu457=) c.1722G>T (p.Leu574=) | |
2 | g.162435454C>G | CA429731863 | KCNH7 | c.1698G>C (p.Leu566=) c.1677G>C (p.Leu559=) c.1398G>C (p.Leu466=) c.1371G>C (p.Leu457=) c.1722G>C (p.Leu574=) | |
2 | g.162435454C>T | CA429731864 | KCNH7 | c.1698G>A (p.Leu566=) c.1677G>A (p.Leu559=) c.1398G>A (p.Leu466=) c.1371G>A (p.Leu457=) c.1722G>A (p.Leu574=) | |
2 | g.162435455A>C | CA349221219 | KCNH7 | c.1697T>G (p.Leu566Arg) c.1676T>G (p.Leu559Arg) c.1397T>G (p.Leu466Arg) c.1370T>G (p.Leu457Arg) c.1721T>G (p.Leu574Arg) | |
2 | g.162435455A>G | CA349221218 | KCNH7 | c.1697T>C (p.Leu566Pro) c.1676T>C (p.Leu559Pro) c.1397T>C (p.Leu466Pro) c.1370T>C (p.Leu457Pro) c.1721T>C (p.Leu574Pro) | |
2 | g.162435455A>T | CA349221217 | KCNH7 | c.1697T>A (p.Leu566Gln) c.1676T>A (p.Leu559Gln) c.1397T>A (p.Leu466Gln) c.1370T>A (p.Leu457Gln) c.1721T>A (p.Leu574Gln) | |
2 | g.162435456G>A | CA429731866 | KCNH7 | c.1696C>T (p.Leu566=) c.1675C>T (p.Leu559=) c.1396C>T (p.Leu466=) c.1369C>T (p.Leu457=) c.1720C>T (p.Leu574=) | gnomAD v4 |
2 | g.162435456G>C | CA349221220 | KCNH7 | c.1696C>G (p.Leu566Val) c.1675C>G (p.Leu559Val) c.1396C>G (p.Leu466Val) c.1369C>G (p.Leu457Val) c.1720C>G (p.Leu574Val) | |
2 | g.162435456G>T | CA349221221 | KCNH7 | c.1696C>A (p.Leu566Met) c.1675C>A (p.Leu559Met) c.1396C>A (p.Leu466Met) c.1369C>A (p.Leu457Met) c.1720C>A (p.Leu574Met) | |
2 | g.162435457C>A | CA349221222 | KCNH7 | c.1695G>T (p.Trp565Cys) c.1674G>T (p.Trp558Cys) c.1395G>T (p.Trp465Cys) c.1368G>T (p.Trp456Cys) c.1719G>T (p.Trp573Cys) | |
2 | g.162435457C>G | CA349221223 | KCNH7 | c.1695G>C (p.Trp565Cys) c.1674G>C (p.Trp558Cys) c.1395G>C (p.Trp465Cys) c.1368G>C (p.Trp456Cys) c.1719G>C (p.Trp573Cys) | |
2 | g.162435457C>T | CA349221224 | KCNH7 | c.1695G>A (p.Trp565Ter) c.1674G>A (p.Trp558Ter) c.1395G>A (p.Trp465Ter) c.1368G>A (p.Trp456Ter) c.1719G>A (p.Trp573Ter) | |
2 | g.162435458C>A | CA349221225 | KCNH7 | c.1694G>T (p.Trp565Leu) c.1673G>T (p.Trp558Leu) c.1394G>T (p.Trp465Leu) c.1367G>T (p.Trp456Leu) c.1718G>T (p.Trp573Leu) | |
2 | g.162435458C>G | CA349221226 | KCNH7 | c.1694G>C (p.Trp565Ser) c.1673G>C (p.Trp558Ser) c.1394G>C (p.Trp465Ser) c.1367G>C (p.Trp456Ser) c.1718G>C (p.Trp573Ser) | |
2 | g.162435458C>T | CA349221227 | KCNH7 | c.1694G>A (p.Trp565Ter) c.1673G>A (p.Trp558Ter) c.1394G>A (p.Trp465Ter) c.1367G>A (p.Trp456Ter) c.1718G>A (p.Trp573Ter) | |
2 | g.162435459A>C | CA349221228 | KCNH7 | c.1693T>G (p.Trp565Gly) c.1672T>G (p.Trp558Gly) c.1393T>G (p.Trp465Gly) c.1366T>G (p.Trp456Gly) c.1717T>G (p.Trp573Gly) | |
2 | g.162435459A>G | CA349221229 | KCNH7 | c.1693T>C (p.Trp565Arg) c.1672T>C (p.Trp558Arg) c.1393T>C (p.Trp465Arg) c.1366T>C (p.Trp456Arg) c.1717T>C (p.Trp573Arg) | |
2 | g.162435459A>T | CA349221230 | KCNH7 | c.1693T>A (p.Trp565Arg) c.1672T>A (p.Trp558Arg) c.1393T>A (p.Trp465Arg) c.1366T>A (p.Trp456Arg) c.1717T>A (p.Trp573Arg) | |
2 | g.162435459_162435523del | CA2752941700 | KCNH7 | c.1629_1693del (p.Tyr544AlafsTer18) c.1608_1672del (p.Tyr537AlafsTer18) c.1329_1393del (p.Tyr444AlafsTer18) c.1302_1366del (p.Tyr435AlafsTer18) c.1653_1717del (p.Tyr552AlafsTer18) | |
2 | g.162435460G>A | CA429694436 | KCNH7 | c.1692C>T (p.His564=) c.1671C>T (p.His557=) c.1392C>T (p.His464=) c.1365C>T (p.His455=) c.1716C>T (p.His572=) | |
2 | g.162435460G>C | CA349221231 | KCNH7 | c.1692C>G (p.His564Gln) c.1671C>G (p.His557Gln) c.1392C>G (p.His464Gln) c.1365C>G (p.His455Gln) c.1716C>G (p.His572Gln) | |
2 | g.162435460G>T | CA349221232 | KCNH7 | c.1692C>A (p.His564Gln) c.1671C>A (p.His557Gln) c.1392C>A (p.His464Gln) c.1365C>A (p.His455Gln) c.1716C>A (p.His572Gln) | COSMIC COSMIC |
2 | g.162435461T>A | CA349221235 | KCNH7 | c.1691A>T (p.His564Leu) c.1670A>T (p.His557Leu) c.1391A>T (p.His464Leu) c.1364A>T (p.His455Leu) c.1715A>T (p.His572Leu) | |
2 | g.162435461T>C | CA349221234 | KCNH7 | c.1691A>G (p.His564Arg) c.1670A>G (p.His557Arg) c.1391A>G (p.His464Arg) c.1364A>G (p.His455Arg) c.1715A>G (p.His572Arg) | |
2 | g.162435461T>G | CA349221233 | KCNH7 | c.1691A>C (p.His564Pro) c.1670A>C (p.His557Pro) c.1391A>C (p.His464Pro) c.1364A>C (p.His455Pro) c.1715A>C (p.His572Pro) | |
2 | g.162435462G>A | CA349221236 | KCNH7 | c.1690C>T (p.His564Tyr) c.1669C>T (p.His557Tyr) c.1390C>T (p.His464Tyr) c.1363C>T (p.His455Tyr) c.1714C>T (p.His572Tyr) | |
2 | g.162435462G>C | CA349221237 | KCNH7 | c.1690C>G (p.His564Asp) c.1669C>G (p.His557Asp) c.1390C>G (p.His464Asp) c.1363C>G (p.His455Asp) c.1714C>G (p.His572Asp) | |
2 | g.162435462G>T | CA349221238 | KCNH7 | c.1690C>A (p.His564Asn) c.1669C>A (p.His557Asn) c.1390C>A (p.His464Asn) c.1363C>A (p.His455Asn) c.1714C>A (p.His572Asn) | |
2 | g.162435463A>C | CA429694447 | KCNH7 | c.1689T>G (p.Ala563=) c.1668T>G (p.Ala556=) c.1389T>G (p.Ala463=) c.1362T>G (p.Ala454=) c.1713T>G (p.Ala571=) | |
2 | g.162435463A>G | CA429694449 | KCNH7 | c.1689T>C (p.Ala563=) c.1668T>C (p.Ala556=) c.1389T>C (p.Ala463=) c.1362T>C (p.Ala454=) c.1713T>C (p.Ala571=) | gnomAD v4 |
2 | g.162435463A>T | CA429694451 | KCNH7 | c.1689T>A (p.Ala563=) c.1668T>A (p.Ala556=) c.1389T>A (p.Ala463=) c.1362T>A (p.Ala454=) c.1713T>A (p.Ala571=) | |
2 | g.162435464G>A | CA349221239 | KCNH7 | c.1688C>T (p.Ala563Val) c.1667C>T (p.Ala556Val) c.1388C>T (p.Ala463Val) c.1361C>T (p.Ala454Val) c.1712C>T (p.Ala571Val) | |
2 | g.162435464G>C | CA349221240 | KCNH7 | c.1688C>G (p.Ala563Gly) c.1667C>G (p.Ala556Gly) c.1388C>G (p.Ala463Gly) c.1361C>G (p.Ala454Gly) c.1712C>G (p.Ala571Gly) | |
2 | g.162435464G>T | CA349221241 | KCNH7 | c.1688C>A (p.Ala563Asp) c.1667C>A (p.Ala556Asp) c.1388C>A (p.Ala463Asp) c.1361C>A (p.Ala454Asp) c.1712C>A (p.Ala571Asp) | COSMIC COSMIC |
2 | g.162435465C>A | CA349221242 | KCNH7 | c.1687G>T (p.Ala563Ser) c.1666G>T (p.Ala556Ser) c.1387G>T (p.Ala463Ser) c.1360G>T (p.Ala454Ser) c.1711G>T (p.Ala571Ser) | |
2 | g.162435465C>G | CA349221243 | KCNH7 | c.1687G>C (p.Ala563Pro) c.1666G>C (p.Ala556Pro) c.1387G>C (p.Ala463Pro) c.1360G>C (p.Ala454Pro) c.1711G>C (p.Ala571Pro) | |
2 | g.162435465C>T | CA349221244 | KCNH7 | c.1687G>A (p.Ala563Thr) c.1666G>A (p.Ala556Thr) c.1387G>A (p.Ala463Thr) c.1360G>A (p.Ala454Thr) c.1711G>A (p.Ala571Thr) | |
2 | g.162435466A>C | CA349221245 | KCNH7 | c.1686T>G (p.Ile562Met) c.1665T>G (p.Ile555Met) c.1386T>G (p.Ile462Met) c.1359T>G (p.Ile453Met) c.1710T>G (p.Ile570Met) | |
2 | g.162435466A>G | CA429694461 | KCNH7 | c.1686T>C (p.Ile562=) c.1665T>C (p.Ile555=) c.1386T>C (p.Ile462=) c.1359T>C (p.Ile453=) c.1710T>C (p.Ile570=) | |
2 | g.162435466A>T | CA429694459 | KCNH7 | c.1686T>A (p.Ile562=) c.1665T>A (p.Ile555=) c.1386T>A (p.Ile462=) c.1359T>A (p.Ile453=) c.1710T>A (p.Ile570=) | |
2 | g.162435467A>C | CA349221246 | KCNH7 | c.1685T>G (p.Ile562Ser) c.1664T>G (p.Ile555Ser) c.1385T>G (p.Ile462Ser) c.1358T>G (p.Ile453Ser) c.1709T>G (p.Ile570Ser) | |
2 | g.162435467A>G | CA349221247 | KCNH7 | c.1685T>C (p.Ile562Thr) c.1664T>C (p.Ile555Thr) c.1385T>C (p.Ile462Thr) c.1358T>C (p.Ile453Thr) c.1709T>C (p.Ile570Thr) | |
2 | g.162435467A>T | CA349221248 | KCNH7 | c.1685T>A (p.Ile562Asn) c.1664T>A (p.Ile555Asn) c.1385T>A (p.Ile462Asn) c.1358T>A (p.Ile453Asn) c.1709T>A (p.Ile570Asn) | |
2 | g.162435468T>A | CA349221251 | KCNH7 | c.1684A>T (p.Ile562Phe) c.1663A>T (p.Ile555Phe) c.1384A>T (p.Ile462Phe) c.1357A>T (p.Ile453Phe) c.1708A>T (p.Ile570Phe) | |
2 | g.162435468T>C | CA349221250 | KCNH7 | c.1684A>G (p.Ile562Val) c.1663A>G (p.Ile555Val) c.1384A>G (p.Ile462Val) c.1357A>G (p.Ile453Val) c.1708A>G (p.Ile570Val) | |
2 | g.162435468T>G | CA349221249 | KCNH7 | c.1684A>C (p.Ile562Leu) c.1663A>C (p.Ile555Leu) c.1384A>C (p.Ile462Leu) c.1357A>C (p.Ile453Leu) c.1708A>C (p.Ile570Leu) | |
2 | g.162435469C>A | CA429694470 | KCNH7 | c.1683G>T (p.Leu561=) c.1662G>T (p.Leu554=) c.1383G>T (p.Leu461=) c.1356G>T (p.Leu452=) c.1707G>T (p.Leu569=) | |
2 | g.162435469C>G | CA429694472 | KCNH7 | c.1683G>C (p.Leu561=) c.1662G>C (p.Leu554=) c.1383G>C (p.Leu461=) c.1356G>C (p.Leu452=) c.1707G>C (p.Leu569=) | gnomAD v3 gnomAD v4 |
2 | g.162435469C>T | CA429694474 | KCNH7 | c.1683G>A (p.Leu561=) c.1662G>A (p.Leu554=) c.1383G>A (p.Leu461=) c.1356G>A (p.Leu452=) c.1707G>A (p.Leu569=) | gnomAD v4 |
2 | g.162435470A>C | CA349221254 | KCNH7 | c.1682T>G (p.Leu561Arg) c.1661T>G (p.Leu554Arg) c.1382T>G (p.Leu461Arg) c.1355T>G (p.Leu452Arg) c.1706T>G (p.Leu569Arg) | |
2 | g.162435470A>G | CA349221252 | KCNH7 | c.1682T>C (p.Leu561Pro) c.1661T>C (p.Leu554Pro) c.1382T>C (p.Leu461Pro) c.1355T>C (p.Leu452Pro) c.1706T>C (p.Leu569Pro) | |
2 | g.162435470A>T | CA349221253 | KCNH7 | c.1682T>A (p.Leu561Gln) c.1661T>A (p.Leu554Gln) c.1382T>A (p.Leu461Gln) c.1355T>A (p.Leu452Gln) c.1706T>A (p.Leu569Gln) | |
2 | g.162435471G>A | CA1935642 | KCNH7 | c.1681C>T (p.Leu561=) c.1660C>T (p.Leu554=) c.1381C>T (p.Leu461=) c.1354C>T (p.Leu452=) c.1705C>T (p.Leu569=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.162435471G>C | CA349221255 | KCNH7 | c.1681C>G (p.Leu561Val) c.1660C>G (p.Leu554Val) c.1381C>G (p.Leu461Val) c.1354C>G (p.Leu452Val) c.1705C>G (p.Leu569Val) | |
2 | g.162435471G= | CA1303221352 | KCNH7 | c.1681C= (p.Leu561=) c.1660C= (p.Leu554=) c.1381C= (p.Leu461=) c.1354C= (p.Leu452=) c.1705C= (p.Leu569=) | |
2 | g.162435471G>T | CA349221256 | KCNH7 | c.1681C>A (p.Leu561Met) c.1660C>A (p.Leu554Met) c.1381C>A (p.Leu461Met) c.1354C>A (p.Leu452Met) c.1705C>A (p.Leu569Met) | |
2 | g.162435472G>A | CA429694482 | KCNH7 | c.1680C>T (p.Ala560=) c.1659C>T (p.Ala553=) c.1380C>T (p.Ala460=) c.1353C>T (p.Ala451=) c.1704C>T (p.Ala568=) | |
2 | g.162435472G>C | CA429694483 | KCNH7 | c.1680C>G (p.Ala560=) c.1659C>G (p.Ala553=) c.1380C>G (p.Ala460=) c.1353C>G (p.Ala451=) c.1704C>G (p.Ala568=) | |
2 | g.162435472G>T | CA429694485 | KCNH7 | c.1680C>A (p.Ala560=) c.1659C>A (p.Ala553=) c.1380C>A (p.Ala460=) c.1353C>A (p.Ala451=) c.1704C>A (p.Ala568=) | |
2 | g.162435473G>A | CA349221257 | KCNH7 | c.1679C>T (p.Ala560Val) c.1658C>T (p.Ala553Val) c.1379C>T (p.Ala460Val) c.1352C>T (p.Ala451Val) c.1703C>T (p.Ala568Val) | |
2 | g.162435473G>C | CA349221258 | KCNH7 | c.1679C>G (p.Ala560Gly) c.1658C>G (p.Ala553Gly) c.1379C>G (p.Ala460Gly) c.1352C>G (p.Ala451Gly) c.1703C>G (p.Ala568Gly) | |
2 | g.162435473G>T | CA349221259 | KCNH7 | c.1679C>A (p.Ala560Asp) c.1658C>A (p.Ala553Asp) c.1379C>A (p.Ala460Asp) c.1352C>A (p.Ala451Asp) c.1703C>A (p.Ala568Asp) | |
2 | g.162435474C>A | CA349221260 | KCNH7 | c.1678G>T (p.Ala560Ser) c.1657G>T (p.Ala553Ser) c.1378G>T (p.Ala460Ser) c.1351G>T (p.Ala451Ser) c.1702G>T (p.Ala568Ser) | COSMIC COSMIC |
2 | g.162435474C>G | CA349221261 | KCNH7 | c.1678G>C (p.Ala560Pro) c.1657G>C (p.Ala553Pro) c.1378G>C (p.Ala460Pro) c.1351G>C (p.Ala451Pro) c.1702G>C (p.Ala568Pro) | |
2 | g.162435474C>T | CA349221262 | KCNH7 | c.1678G>A (p.Ala560Thr) c.1657G>A (p.Ala553Thr) c.1378G>A (p.Ala460Thr) c.1351G>A (p.Ala451Thr) c.1702G>A (p.Ala568Thr) | |
2 | g.162435475A>C | CA349221263 | KCNH7 | c.1677T>G (p.Phe559Leu) c.1656T>G (p.Phe552Leu) c.1377T>G (p.Phe459Leu) c.1350T>G (p.Phe450Leu) c.1701T>G (p.Phe567Leu) | |
2 | g.162435475A>G | CA429694495 | KCNH7 | c.1677T>C (p.Phe559=) c.1656T>C (p.Phe552=) c.1377T>C (p.Phe459=) c.1350T>C (p.Phe450=) c.1701T>C (p.Phe567=) | gnomAD v4 |
2 | g.162435475A>T | CA349221264 | KCNH7 | c.1677T>A (p.Phe559Leu) c.1656T>A (p.Phe552Leu) c.1377T>A (p.Phe459Leu) c.1350T>A (p.Phe450Leu) c.1701T>A (p.Phe567Leu) | |
2 | g.162435476A>C | CA349221267 | KCNH7 | c.1676T>G (p.Phe559Cys) c.1655T>G (p.Phe552Cys) c.1376T>G (p.Phe459Cys) c.1349T>G (p.Phe450Cys) c.1700T>G (p.Phe567Cys) | |
2 | g.162435476A>G | CA349221265 | KCNH7 | c.1676T>C (p.Phe559Ser) c.1655T>C (p.Phe552Ser) c.1376T>C (p.Phe459Ser) c.1349T>C (p.Phe450Ser) c.1700T>C (p.Phe567Ser) | |
2 | g.162435476A>T | CA349221266 | KCNH7 | c.1676T>A (p.Phe559Tyr) c.1655T>A (p.Phe552Tyr) c.1376T>A (p.Phe459Tyr) c.1349T>A (p.Phe450Tyr) c.1700T>A (p.Phe567Tyr) | |
2 | g.162435477A>C | CA349221268 | KCNH7 | c.1675T>G (p.Phe559Val) c.1654T>G (p.Phe552Val) c.1375T>G (p.Phe459Val) c.1348T>G (p.Phe450Val) c.1699T>G (p.Phe567Val) | |
2 | g.162435477A>G | CA349221269 | KCNH7 | c.1675T>C (p.Phe559Leu) c.1654T>C (p.Phe552Leu) c.1375T>C (p.Phe459Leu) c.1348T>C (p.Phe450Leu) c.1699T>C (p.Phe567Leu) | |
2 | g.162435477A>T | CA349221270 | KCNH7 | c.1675T>A (p.Phe559Ile) c.1654T>A (p.Phe552Ile) c.1375T>A (p.Phe459Ile) c.1348T>A (p.Phe450Ile) c.1699T>A (p.Phe567Ile) | |
2 | g.162435478G>A | CA429694505 | KCNH7 | c.1674C>T (p.Ile558=) c.1653C>T (p.Ile551=) c.1374C>T (p.Ile458=) c.1347C>T (p.Ile449=) c.1698C>T (p.Ile566=) | |
2 | g.162435478G>C | CA349221271 | KCNH7 | c.1674C>G (p.Ile558Met) c.1653C>G (p.Ile551Met) c.1374C>G (p.Ile458Met) c.1347C>G (p.Ile449Met) c.1698C>G (p.Ile566Met) | |
2 | g.162435478G>T | CA429694508 | KCNH7 | c.1674C>A (p.Ile558=) c.1653C>A (p.Ile551=) c.1374C>A (p.Ile458=) c.1347C>A (p.Ile449=) c.1698C>A (p.Ile566=) | |
2 | g.162435479A>C | CA349221272 | KCNH7 | c.1673T>G (p.Ile558Ser) c.1652T>G (p.Ile551Ser) c.1373T>G (p.Ile458Ser) c.1346T>G (p.Ile449Ser) c.1697T>G (p.Ile566Ser) | |
2 | g.162435479A>G | CA349221273 | KCNH7 | c.1673T>C (p.Ile558Thr) c.1652T>C (p.Ile551Thr) c.1373T>C (p.Ile458Thr) c.1346T>C (p.Ile449Thr) c.1697T>C (p.Ile566Thr) | |
2 | g.162435479A>T | CA349221274 | KCNH7 | c.1673T>A (p.Ile558Asn) c.1652T>A (p.Ile551Asn) c.1373T>A (p.Ile458Asn) c.1346T>A (p.Ile449Asn) c.1697T>A (p.Ile566Asn) | |
2 | g.162435480T>A | CA349221275 | KCNH7 | c.1672A>T (p.Ile558Phe) c.1651A>T (p.Ile551Phe) c.1372A>T (p.Ile458Phe) c.1345A>T (p.Ile449Phe) c.1696A>T (p.Ile566Phe) | |
2 | g.162435480T>C | CA349221276 | KCNH7 | c.1672A>G (p.Ile558Val) c.1651A>G (p.Ile551Val) c.1372A>G (p.Ile458Val) c.1345A>G (p.Ile449Val) c.1696A>G (p.Ile566Val) | COSMIC COSMIC |
2 | g.162435480T>G | CA349221277 | KCNH7 | c.1672A>C (p.Ile558Leu) c.1651A>C (p.Ile551Leu) c.1372A>C (p.Ile458Leu) c.1345A>C (p.Ile449Leu) c.1696A>C (p.Ile566Leu) | dbSNP |
2 | g.162435480T= | CA1303221353 | KCNH7 | c.1672A= (p.Ile558=) c.1651A= (p.Ile551=) c.1372A= (p.Ile458=) c.1345A= (p.Ile449=) c.1696A= (p.Ile566=) | |
2 | g.162435481G>A | CA429694517 | KCNH7 | c.1671C>T (p.Cys557=) c.1650C>T (p.Cys550=) c.1371C>T (p.Cys457=) c.1344C>T (p.Cys448=) c.1695C>T (p.Cys565=) | |
2 | g.162435481G>C | CA349221278 | KCNH7 | c.1671C>G (p.Cys557Trp) c.1650C>G (p.Cys550Trp) c.1371C>G (p.Cys457Trp) c.1344C>G (p.Cys448Trp) c.1695C>G (p.Cys565Trp) | |
2 | g.162435481G>T | CA349221279 | KCNH7 | c.1671C>A (p.Cys557Ter) c.1650C>A (p.Cys550Ter) c.1371C>A (p.Cys457Ter) c.1344C>A (p.Cys448Ter) c.1695C>A (p.Cys565Ter) | |
2 | g.162435482C>A | CA349221281 | KCNH7 | c.1670G>T (p.Cys557Phe) c.1649G>T (p.Cys550Phe) c.1370G>T (p.Cys457Phe) c.1343G>T (p.Cys448Phe) c.1694G>T (p.Cys565Phe) | gnomAD v4 |
2 | g.162435482C>G | CA349221282 | KCNH7 | c.1670G>C (p.Cys557Ser) c.1649G>C (p.Cys550Ser) c.1370G>C (p.Cys457Ser) c.1343G>C (p.Cys448Ser) c.1694G>C (p.Cys565Ser) | |
2 | g.162435482C>T | CA349221280 | KCNH7 | c.1670G>A (p.Cys557Tyr) c.1649G>A (p.Cys550Tyr) c.1370G>A (p.Cys457Tyr) c.1343G>A (p.Cys448Tyr) c.1694G>A (p.Cys565Tyr) | |
2 | g.162435483A= | CA1303221354 | KCNH7 | c.1669T= (p.Cys557=) c.1648T= (p.Cys550=) c.1369T= (p.Cys457=) c.1342T= (p.Cys448=) c.1693T= (p.Cys565=) | |
2 | g.162435483A>C | CA1935643 | KCNH7 | c.1669T>G (p.Cys557Gly) c.1648T>G (p.Cys550Gly) c.1369T>G (p.Cys457Gly) c.1342T>G (p.Cys448Gly) c.1693T>G (p.Cys565Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.162435483A>G | CA349221284 | KCNH7 | c.1669T>C (p.Cys557Arg) c.1648T>C (p.Cys550Arg) c.1369T>C (p.Cys457Arg) c.1342T>C (p.Cys448Arg) c.1693T>C (p.Cys565Arg) | COSMIC COSMIC |
2 | g.162435483A>T | CA349221283 | KCNH7 | c.1669T>A (p.Cys557Ser) c.1648T>A (p.Cys550Ser) c.1369T>A (p.Cys457Ser) c.1342T>A (p.Cys448Ser) c.1693T>A (p.Cys565Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162435484C>A | CA349221285 | KCNH7 | c.1668G>T (p.Met556Ile) c.1647G>T (p.Met549Ile) c.1368G>T (p.Met456Ile) c.1341G>T (p.Met447Ile) c.1692G>T (p.Met564Ile) | |
2 | g.162435484C>G | CA349221287 | KCNH7 | c.1668G>C (p.Met556Ile) c.1647G>C (p.Met549Ile) c.1368G>C (p.Met456Ile) c.1341G>C (p.Met447Ile) c.1692G>C (p.Met564Ile) | |
2 | g.162435484C>T | CA349221286 | KCNH7 | c.1668G>A (p.Met556Ile) c.1647G>A (p.Met549Ile) c.1368G>A (p.Met456Ile) c.1341G>A (p.Met447Ile) c.1692G>A (p.Met564Ile) | |
2 | g.162435484_162435487del | CA2661696322 | KCNH7 | c.1665_1668del (p.Leu555PhefsTer6) c.1644_1647del (p.Leu548PhefsTer6) c.1365_1368del (p.Leu455PhefsTer6) c.1338_1341del (p.Leu446PhefsTer6) c.1689_1692del (p.Leu563PhefsTer6) | gnomAD v4 |
2 | g.162435485A>C | CA349221288 | KCNH7 | c.1667T>G (p.Met556Arg) c.1646T>G (p.Met549Arg) c.1367T>G (p.Met456Arg) c.1340T>G (p.Met447Arg) c.1691T>G (p.Met564Arg) | |
2 | g.162435485A>G | CA349221289 | KCNH7 | c.1667T>C (p.Met556Thr) c.1646T>C (p.Met549Thr) c.1367T>C (p.Met456Thr) c.1340T>C (p.Met447Thr) c.1691T>C (p.Met564Thr) | |
2 | g.162435485A>T | CA349221290 | KCNH7 | c.1667T>A (p.Met556Lys) c.1646T>A (p.Met549Lys) c.1367T>A (p.Met456Lys) c.1340T>A (p.Met447Lys) c.1691T>A (p.Met564Lys) | |
2 | g.162435486T>A | CA349221291 | KCNH7 | c.1666A>T (p.Met556Leu) c.1645A>T (p.Met549Leu) c.1366A>T (p.Met456Leu) c.1339A>T (p.Met447Leu) c.1690A>T (p.Met564Leu) | |
2 | g.162435486T>C | CA349221292 | KCNH7 | c.1666A>G (p.Met556Val) c.1645A>G (p.Met549Val) c.1366A>G (p.Met456Val) c.1339A>G (p.Met447Val) c.1690A>G (p.Met564Val) | gnomAD v4 |
2 | g.162435486T>G | CA349221293 | KCNH7 | c.1666A>C (p.Met556Leu) c.1645A>C (p.Met549Leu) c.1366A>C (p.Met456Leu) c.1339A>C (p.Met447Leu) c.1690A>C (p.Met564Leu) | |
2 | g.162435487T>A | CA349221294 | KCNH7 | c.1665A>T (p.Leu555Phe) c.1644A>T (p.Leu548Phe) c.1365A>T (p.Leu455Phe) c.1338A>T (p.Leu446Phe) c.1689A>T (p.Leu563Phe) | |
2 | g.162435487T>C | CA1935644 | KCNH7 | c.1665A>G (p.Leu555=) c.1644A>G (p.Leu548=) c.1365A>G (p.Leu455=) c.1338A>G (p.Leu446=) c.1689A>G (p.Leu563=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.162435487T>G | CA349221295 | KCNH7 | c.1665A>C (p.Leu555Phe) c.1644A>C (p.Leu548Phe) c.1365A>C (p.Leu455Phe) c.1338A>C (p.Leu446Phe) c.1689A>C (p.Leu563Phe) | |
2 | g.162435487T= | CA1303221356 | KCNH7 | c.1665A= (p.Leu555=) c.1644A= (p.Leu548=) c.1365A= (p.Leu455=) c.1338A= (p.Leu446=) c.1689A= (p.Leu563=) | |
2 | g.162435488A>C | CA349221298 | KCNH7 | c.1664T>G (p.Leu555Ter) c.1643T>G (p.Leu548Ter) c.1364T>G (p.Leu455Ter) c.1337T>G (p.Leu446Ter) c.1688T>G (p.Leu563Ter) | |
2 | g.162435488A>G | CA349221297 | KCNH7 | c.1664T>C (p.Leu555Ser) c.1643T>C (p.Leu548Ser) c.1364T>C (p.Leu455Ser) c.1337T>C (p.Leu446Ser) c.1688T>C (p.Leu563Ser) | |
2 | g.162435488A>T | CA349221296 | KCNH7 | c.1664T>A (p.Leu555Ter) c.1643T>A (p.Leu548Ter) c.1364T>A (p.Leu455Ter) c.1337T>A (p.Leu446Ter) c.1688T>A (p.Leu563Ter) | |
2 | g.162435489A>C | CA349221299 | KCNH7 | c.1663T>G (p.Leu555Val) c.1642T>G (p.Leu548Val) c.1363T>G (p.Leu455Val) c.1336T>G (p.Leu446Val) c.1687T>G (p.Leu563Val) | |
2 | g.162435489A>G | CA429694545 | KCNH7 | c.1663T>C (p.Leu555=) c.1642T>C (p.Leu548=) c.1363T>C (p.Leu455=) c.1336T>C (p.Leu446=) c.1687T>C (p.Leu563=) | |
2 | g.162435489A>T | CA349221300 | KCNH7 | c.1663T>A (p.Leu555Ile) c.1642T>A (p.Leu548Ile) c.1363T>A (p.Leu455Ile) c.1336T>A (p.Leu446Ile) c.1687T>A (p.Leu563Ile) | |
2 | g.162435490G>A | CA429694546 | KCNH7 | c.1662C>T (p.Leu554=) c.1641C>T (p.Leu547=) c.1362C>T (p.Leu454=) c.1335C>T (p.Leu445=) c.1686C>T (p.Leu562=) | |
2 | g.162435490G>C | CA429694547 | KCNH7 | c.1662C>G (p.Leu554=) c.1641C>G (p.Leu547=) c.1362C>G (p.Leu454=) c.1335C>G (p.Leu445=) c.1686C>G (p.Leu562=) | |
2 | g.162435490G>T | CA429694548 | KCNH7 | c.1662C>A (p.Leu554=) c.1641C>A (p.Leu547=) c.1362C>A (p.Leu454=) c.1335C>A (p.Leu445=) c.1686C>A (p.Leu562=) | |
2 | g.162435491A>C | CA349221301 | KCNH7 | c.1661T>G (p.Leu554Arg) c.1640T>G (p.Leu547Arg) c.1361T>G (p.Leu454Arg) c.1334T>G (p.Leu445Arg) c.1685T>G (p.Leu562Arg) | |
2 | g.162435491A>G | CA349221302 | KCNH7 | c.1661T>C (p.Leu554Pro) c.1640T>C (p.Leu547Pro) c.1361T>C (p.Leu454Pro) c.1334T>C (p.Leu445Pro) c.1685T>C (p.Leu562Pro) | |
2 | g.162435491A>T | CA349221303 | KCNH7 | c.1661T>A (p.Leu554His) c.1640T>A (p.Leu547His) c.1361T>A (p.Leu454His) c.1334T>A (p.Leu445His) c.1685T>A (p.Leu562His) | |
2 | g.162435492G>A | CA349221304 | KCNH7 | c.1660C>T (p.Leu554Phe) c.1639C>T (p.Leu547Phe) c.1360C>T (p.Leu454Phe) c.1333C>T (p.Leu445Phe) c.1684C>T (p.Leu562Phe) | |
2 | g.162435492G>C | CA349221305 | KCNH7 | c.1660C>G (p.Leu554Val) c.1639C>G (p.Leu547Val) c.1360C>G (p.Leu454Val) c.1333C>G (p.Leu445Val) c.1684C>G (p.Leu562Val) | |
2 | g.162435492G>T | CA349221306 | KCNH7 | c.1660C>A (p.Leu554Ile) c.1639C>A (p.Leu547Ile) c.1360C>A (p.Leu454Ile) c.1333C>A (p.Leu445Ile) c.1684C>A (p.Leu562Ile) | |
2 | g.162435493C>A | CA349221307 | KCNH7 | c.1659G>T (p.Met553Ile) c.1638G>T (p.Met546Ile) c.1359G>T (p.Met453Ile) c.1332G>T (p.Met444Ile) c.1683G>T (p.Met561Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162435493C= | CA1303221357 | KCNH7 | c.1659G= (p.Met553=) c.1638G= (p.Met546=) c.1359G= (p.Met453=) c.1332G= (p.Met444=) c.1683G= (p.Met561=) | |
2 | g.162435493C>G | CA349221308 | KCNH7 | c.1659G>C (p.Met553Ile) c.1638G>C (p.Met546Ile) c.1359G>C (p.Met453Ile) c.1332G>C (p.Met444Ile) c.1683G>C (p.Met561Ile) | |
2 | g.162435493C>T | CA59809382 | KCNH7 | c.1659G>A (p.Met553Ile) c.1638G>A (p.Met546Ile) c.1359G>A (p.Met453Ile) c.1332G>A (p.Met444Ile) c.1683G>A (p.Met561Ile) | dbSNP |
2 | g.162435494A>C | CA349221310 | KCNH7 | c.1658T>G (p.Met553Arg) c.1637T>G (p.Met546Arg) c.1358T>G (p.Met453Arg) c.1331T>G (p.Met444Arg) c.1682T>G (p.Met561Arg) | |
2 | g.162435494A>G | CA349221311 | KCNH7 | c.1658T>C (p.Met553Thr) c.1637T>C (p.Met546Thr) c.1358T>C (p.Met453Thr) c.1331T>C (p.Met444Thr) c.1682T>C (p.Met561Thr) | |
2 | g.162435494A>T | CA349221309 | KCNH7 | c.1658T>A (p.Met553Lys) c.1637T>A (p.Met546Lys) c.1358T>A (p.Met453Lys) c.1331T>A (p.Met444Lys) c.1682T>A (p.Met561Lys) | |
2 | g.162435495T>A | CA349221312 | KCNH7 | c.1657A>T (p.Met553Leu) c.1636A>T (p.Met546Leu) c.1357A>T (p.Met453Leu) c.1330A>T (p.Met444Leu) c.1681A>T (p.Met561Leu) | |
2 | g.162435495T>C | CA1935645 | KCNH7 | c.1657A>G (p.Met553Val) c.1636A>G (p.Met546Val) c.1357A>G (p.Met453Val) c.1330A>G (p.Met444Val) c.1681A>G (p.Met561Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162435495T>G | CA349221313 | KCNH7 | c.1657A>C (p.Met553Leu) c.1636A>C (p.Met546Leu) c.1357A>C (p.Met453Leu) c.1330A>C (p.Met444Leu) c.1681A>C (p.Met561Leu) | |
2 | g.162435495T= | CA1303221358 | KCNH7 | c.1657A= (p.Met553=) c.1636A= (p.Met546=) c.1357A= (p.Met453=) c.1330A= (p.Met444=) c.1681A= (p.Met561=) | |
2 | g.162435496T>A | CA429694550 | KCNH7 | c.1656A>T (p.Leu552=) c.1635A>T (p.Leu545=) c.1356A>T (p.Leu452=) c.1329A>T (p.Leu443=) c.1680A>T (p.Leu560=) | |
2 | g.162435496T>C | CA429694551 | KCNH7 | c.1656A>G (p.Leu552=) c.1635A>G (p.Leu545=) c.1356A>G (p.Leu452=) c.1329A>G (p.Leu443=) c.1680A>G (p.Leu560=) | dbSNP gnomAD v4 |
2 | g.162435496T>G | CA429694552 | KCNH7 | c.1656A>C (p.Leu552=) c.1635A>C (p.Leu545=) c.1356A>C (p.Leu452=) c.1329A>C (p.Leu443=) c.1680A>C (p.Leu560=) | |
2 | g.162435496T= | CA1303221360 | KCNH7 | c.1656A= (p.Leu552=) c.1635A= (p.Leu545=) c.1356A= (p.Leu452=) c.1329A= (p.Leu443=) c.1680A= (p.Leu560=) | |
2 | g.162435497A>C | CA349221314 | KCNH7 | c.1655T>G (p.Leu552Arg) c.1634T>G (p.Leu545Arg) c.1355T>G (p.Leu452Arg) c.1328T>G (p.Leu443Arg) c.1679T>G (p.Leu560Arg) | |
2 | g.162435497A>G | CA349221315 | KCNH7 | c.1655T>C (p.Leu552Pro) c.1634T>C (p.Leu545Pro) c.1355T>C (p.Leu452Pro) c.1328T>C (p.Leu443Pro) c.1679T>C (p.Leu560Pro) | |
2 | g.162435497A>T | CA349221316 | KCNH7 | c.1655T>A (p.Leu552Gln) c.1634T>A (p.Leu545Gln) c.1355T>A (p.Leu452Gln) c.1328T>A (p.Leu443Gln) c.1679T>A (p.Leu560Gln) | |
2 | g.162435498G>A | CA1935646 | KCNH7 | c.1654C>T (p.Leu552=) c.1633C>T (p.Leu545=) c.1354C>T (p.Leu452=) c.1327C>T (p.Leu443=) c.1678C>T (p.Leu560=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162435498G>C | CA349221317 | KCNH7 | c.1654C>G (p.Leu552Val) c.1633C>G (p.Leu545Val) c.1354C>G (p.Leu452Val) c.1327C>G (p.Leu443Val) c.1678C>G (p.Leu560Val) | |
2 | g.162435498G= | CA1303221361 | KCNH7 | c.1654C= (p.Leu552=) c.1633C= (p.Leu545=) c.1354C= (p.Leu452=) c.1327C= (p.Leu443=) c.1678C= (p.Leu560=) | |
2 | g.162435498G>T | CA349221318 | KCNH7 | c.1654C>A (p.Leu552Ile) c.1633C>A (p.Leu545Ile) c.1354C>A (p.Leu452Ile) c.1327C>A (p.Leu443Ile) c.1678C>A (p.Leu560Ile) | COSMIC COSMIC |
2 | g.162435499A>C | CA429694553 | KCNH7 | c.1653T>G (p.Val551=) c.1632T>G (p.Val544=) c.1353T>G (p.Val451=) c.1326T>G (p.Val442=) c.1677T>G (p.Val559=) | gnomAD v4 |
2 | g.162435499A>G | CA429694554 | KCNH7 | c.1653T>C (p.Val551=) c.1632T>C (p.Val544=) c.1353T>C (p.Val451=) c.1326T>C (p.Val442=) c.1677T>C (p.Val559=) | gnomAD v4 |
2 | g.162435499A>T | CA429694555 | KCNH7 | c.1653T>A (p.Val551=) c.1632T>A (p.Val544=) c.1353T>A (p.Val451=) c.1326T>A (p.Val442=) c.1677T>A (p.Val559=) | |
2 | g.162435500A>C | CA349221319 | KCNH7 | c.1652T>G (p.Val551Gly) c.1631T>G (p.Val544Gly) c.1352T>G (p.Val451Gly) c.1325T>G (p.Val442Gly) c.1676T>G (p.Val559Gly) | |
2 | g.162435500A>G | CA349221320 | KCNH7 | c.1652T>C (p.Val551Ala) c.1631T>C (p.Val544Ala) c.1352T>C (p.Val451Ala) c.1325T>C (p.Val442Ala) c.1676T>C (p.Val559Ala) | gnomAD v4 |
2 | g.162435500A>T | CA349221321 | KCNH7 | c.1652T>A (p.Val551Asp) c.1631T>A (p.Val544Asp) c.1352T>A (p.Val451Asp) c.1325T>A (p.Val442Asp) c.1676T>A (p.Val559Asp) | |
2 | g.162435501C>A | CA349221324 | KCNH7 | c.1651G>T (p.Val551Phe) c.1630G>T (p.Val544Phe) c.1351G>T (p.Val451Phe) c.1324G>T (p.Val442Phe) c.1675G>T (p.Val559Phe) | |
2 | g.162435501C= | CA1303221362 | KCNH7 | c.1651G= (p.Val551=) c.1630G= (p.Val544=) c.1351G= (p.Val451=) c.1324G= (p.Val442=) c.1675G= (p.Val559=) | |
2 | g.162435501C>G | CA349221322 | KCNH7 | c.1651G>C (p.Val551Leu) c.1630G>C (p.Val544Leu) c.1351G>C (p.Val451Leu) c.1324G>C (p.Val442Leu) c.1675G>C (p.Val559Leu) | |
2 | g.162435501C>T | CA349221323 | KCNH7 | c.1651G>A (p.Val551Ile) c.1630G>A (p.Val544Ile) c.1351G>A (p.Val451Ile) c.1324G>A (p.Val442Ile) c.1675G>A (p.Val559Ile) | dbSNP |
2 | g.162435502A= | CA1303221363 | KCNH7 | c.1650T= (p.Ala550=) c.1629T= (p.Ala543=) c.1350T= (p.Ala450=) c.1323T= (p.Ala441=) c.1674T= (p.Ala558=) | |
2 | g.162435502A>C | CA429694556 | KCNH7 | c.1650T>G (p.Ala550=) c.1629T>G (p.Ala543=) c.1350T>G (p.Ala450=) c.1323T>G (p.Ala441=) c.1674T>G (p.Ala558=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162435502A>G | CA429694557 | KCNH7 | c.1650T>C (p.Ala550=) c.1629T>C (p.Ala543=) c.1350T>C (p.Ala450=) c.1323T>C (p.Ala441=) c.1674T>C (p.Ala558=) | gnomAD v4 |
2 | g.162435502A>T | CA429694558 | KCNH7 | c.1650T>A (p.Ala550=) c.1629T>A (p.Ala543=) c.1350T>A (p.Ala450=) c.1323T>A (p.Ala441=) c.1674T>A (p.Ala558=) | gnomAD v4 |