PMID: 32431610

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers in pharmacology
KR Brewer, G Kuenze, CG Vanoye, AL George, J Meiler, CR Sanders
2020

711 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-150671914-G-C KCNH2 c.192C>G p.Cys64Trp Missense 2/15 -
11-2798229-A-T KCNQ1 c.1699A>T p.Ile567Phe Missense 14/16 -
3-38601895-C-T SCN5A c.3988G>A p.Ala1330Thr Missense 23/28 -
3-38601895-C-G SCN5A c.3988G>C p.Ala1330Pro Missense 23/28 -
3-38662392-C-T SCN5A c.553G>A p.Ala185Thr Missense 5/28 -
7-150671808-G-A KCNH2 c.298C>T p.Arg100Trp Missense 2/15 -
11-2591901-G-A KCNQ1 c.521G>A p.Arg174His Missense 3/16 -
7-150648600-G-T KCNH2 c.1881C>A p.Phe627Leu Missense 7/15 -
7-150648600-G-C KCNH2 c.1881C>G p.Phe627Leu Missense 7/15 -
11-2608843-C-T KCNQ1 c.1172C>T p.Thr391Ile Missense 9/16 -
7-150647423-C-G KCNH2 c.2231G>C p.Arg744Pro Missense 9/15 -
3-38648267-C-G SCN5A c.1033G>C p.Gly345Arg Missense 9/28 -
11-2466701-T-G KCNQ1 c.373T>G p.Tyr125Asp Missense 1/16 -
7-150646083-G-C KCNH2 c.2453C>G p.Ser818Trp Missense 10/15 -
11-2606449-T-C KCNQ1 c.1040T>C p.Leu347Pro Missense 8/16 -
3-38647542-G-T SCN5A c.1238C>A p.Ala413Glu Missense 10/28 -
11-2466649-G-T KCNQ1 c.321G>T p.Gln107His Missense 1/16 -
3-38674584-G-A SCN5A c.215C>T p.Pro72Leu Missense 2/28 -
11-2606479-A-G KCNQ1 c.1070A>G p.Gln357Arg Missense 8/16 -
11-2799254-G-A KCNQ1 c.1781G>A p.Arg594Gln Missense 15/16 -
7-150647345-A-G KCNH2 c.2309T>C p.Val770Ala Missense 9/15 -
11-2593286-C-T KCNQ1 c.727C>T p.Arg243Cys Missense 5/16 -
11-2593287-G-A KCNQ1 c.728G>A p.Arg243His Missense 5/16 -
7-150648703-A-C KCNH2 c.1778T>G p.Ile593Arg Missense 7/15 -
7-150648194-T-C KCNH2 c.1960A>G p.Ser654Gly Missense 8/15 -
3-38592689-G-A SCN5A c.5174C>T p.Pro1725Leu Missense 28/28 -
11-2594110-G-A KCNQ1 c.815G>A p.Gly272Asp Missense 6/16 -
7-150648596-T-C KCNH2 c.1885A>G p.Asn629Asp Missense 7/15 -
7-150671975-C-A KCNH2 c.131G>T p.Cys44Phe Missense 2/15 -
7-150671853-C-G KCNH2 c.253G>C p.Ala85Pro Missense 2/15 -
7-150671902-G-T KCNH2 c.204C>A p.Phe68Leu Missense 2/15 -
7-150649596-G-A KCNH2 c.1474C>T p.His492Tyr Missense 6/15 -
3-38628992-G-T SCN5A c.2335C>A p.Gln779Lys Missense 15/28 -
3-38601871-G-C SCN5A c.4012C>G p.Leu1338Val Missense 23/28 -
11-2869007-T-C KCNQ1 c.1805T>C p.Leu602Pro Missense 16/16 -
7-150671946-A-G KCNH2 c.160T>C p.Tyr54His Missense 2/15 -
11-2594089-C-T KCNQ1 c.794C>T p.Thr265Ile Missense 6/16 -
11-2593317-C-G KCNQ1 c.758C>G p.Ser253Cys Missense 5/16 -
11-2608806-T-G KCNQ1 c.1135T>G p.Trp379Gly Missense 9/16 -
11-2869079-G-C KCNQ1 c.1877G>C p.Gly626Ala Missense 16/16 -
7-150671895-C-G KCNH2 c.211G>C p.Gly71Arg Missense 2/15 -
7-150671895-C-A KCNH2 c.211G>T p.Gly71Trp Missense 2/15 -
3-38646237-C-G SCN5A c.1501G>C p.Asp501His Missense 11/28 -
3-38646237-C-T SCN5A c.1501G>A p.Asp501Asn Missense 11/28 -
11-2593319-G-A KCNQ1 c.760G>A p.Val254Met Missense 5/16 -
7-150648594-G-C KCNH2 c.1887C>G p.Asn629Lys Missense 7/15 -
7-150648594-G-T KCNH2 c.1887C>A p.Asn629Lys Missense 7/15 -
7-150656816-A-G KCNH2 c.316T>C p.Phe106Leu Missense 3/15 -
11-2604666-T-A KCNQ1 c.923T>A p.Val308Asp Missense 7/16 -
7-150671902-G-C KCNH2 c.204C>G p.Phe68Leu Missense 2/15 -
3-38592347-T-C SCN5A c.5516A>G p.Asp1839Gly Missense 28/28 -
3-38592581-A-T SCN5A c.5282T>A p.Leu1761His Missense 28/28 -
7-150648775-T-C KCNH2 c.1706A>G p.Tyr569Cys Missense 7/15 -
7-150671873-G-A KCNH2 c.233C>T p.Ala78Val Missense 2/15 -
7-150671985-C-A KCNH2 c.121G>T p.Val41Phe Missense 2/15 -
7-150648590-A-C KCNH2 c.1891T>G p.Ser631Ala Missense 7/15 -
3-38592591-T-C SCN5A c.5272A>G p.Ile1758Val Missense 28/28 -
11-2608807-G-C KCNQ1 c.1136G>C p.Trp379Ser Missense 9/16 -
7-150649605-T-A KCNH2 c.1465A>T p.Ile489Phe Missense 6/15 -
7-150646084-A-G KCNH2 c.2452T>C p.Ser818Pro Missense 10/15 -
7-150648587-G-C KCNH2 c.1894C>G p.Pro632Ala Missense 7/15 -
7-150648587-G-A KCNH2 c.1894C>T p.Pro632Ser Missense 7/15 -
11-2604716-G-T KCNQ1 c.973G>T p.Gly325Trp Missense 7/16 -
3-38607907-A-T SCN5A c.3833T>A p.Ile1278Asn Missense 21/28 -
11-2606524-C-A KCNQ1 c.1115C>A p.Ala372Asp Missense 8/16 -
11-2592562-C-G KCNQ1 c.612C>G p.Ile204Met Missense 4/16 -
7-150647355-C-A KCNH2 c.2299G>T p.Asp767Tyr Missense 9/15 -
7-150671978-T-C KCNH2 c.128A>G p.Tyr43Cys Missense 2/15 -
7-150648067-C-G KCNH2 c.2087G>C p.Arg696Pro Missense 8/15 -
11-2592602-A-G KCNQ1 c.652A>G p.Lys218Glu Missense 4/16 -
11-2608824-G-A KCNQ1 c.1153G>A p.Glu385Lys Missense 9/16 -
7-150648595-T-C KCNH2 c.1886A>G p.Asn629Ser Missense 7/15 -
7-150671984-A-G KCNH2 c.122T>C p.Val41Ala Missense 2/15 -
11-2604683-G-A KCNQ1 c.940G>A p.Gly314Ser Missense 7/16 -
7-150647256-C-A KCNH2 c.2398G>T p.Gly800Trp Missense 9/15 -
3-38662349-CT-GC SCN5A c.595_596delAGinsGC p.Ser199Ala Missense 5/28 -
7-150671807-C-T KCNH2 c.299G>A p.Arg100Gln Missense 2/15 -
3-38592521-T-C SCN5A c.5342A>G p.Glu1781Gly Missense 28/28 -
7-150648700-C-T KCNH2 c.1781G>A p.Gly594Asp Missense 7/15 -
3-38651444-T-C SCN5A c.715A>G p.Ile239Val Missense 7/28 -
7-150647492-G-A KCNH2 c.2162C>T p.Pro721Leu Missense 9/15 -
3-38640463-C-G SCN5A c.1969G>C p.Gly657Arg Missense 13/28 -
7-150648696-T-A KCNH2 c.1785A>T p.Lys595Asn Missense 7/15 -
7-150671895-C-T KCNH2 c.211G>A p.Gly71Arg Missense 2/15 -
11-2606457-G-A KCNQ1 c.1048G>A p.Gly350Arg Missense 8/16 -
7-150648655-T-C KCNH2 c.1826A>G p.Asp609Gly Missense 7/15 -
7-150648536-A-G KCNH2 c.1945T>C p.Ser649Pro Missense 7/15 -
11-2608836-T-C KCNQ1 c.1165T>C p.Ser389Pro Missense 9/16 -
7-150648188-A-G KCNH2 c.1966T>C p.Phe656Leu Missense 8/15 -
11-2591936-G-C KCNQ1 c.556G>C p.Gly186Arg Missense 3/16 -
11-2593332-A-G KCNQ1 c.773A>G p.His258Arg Missense 5/16 -
3-38598739-C-A SCN5A c.4282G>T p.Ala1428Ser Missense 24/28 -
11-2790130-T-G KCNQ1 c.1571T>G p.Val524Gly Missense 12/16 -
7-150648643-G-T KCNH2 c.1838C>A p.Thr613Lys Missense 7/15 -
7-150648569-T-C KCNH2 c.1912A>G p.Lys638Glu Missense 7/15 -
7-150648809-C-G KCNH2 c.1672G>C p.Ala558Pro Missense 7/15 -
7-150672020-A-G KCNH2 c.86T>C p.Phe29Ser Missense 2/15 -
7-150648777-C-G KCNH2 c.1704G>C p.Trp568Cys Missense 7/15 -
7-150648643-G-A KCNH2 c.1838C>T p.Thr613Met Missense 7/15 -
3-38645342-C-A SCN5A c.1751G>T p.Gly584Val Missense 12/28 -
7-150648758-C-T KCNH2 c.1723G>A p.Glu575Lys Missense 7/15 -
7-150648582-G-T KCNH2 c.1899C>A p.Asn633Lys Missense 7/15 -
3-38593037-G-C SCN5A c.4826C>G p.Ser1609Trp Missense 28/28 -
11-2591859-A-T KCNQ1 c.479A>T p.Glu160Val Missense 3/16 -
3-38601712-C-T SCN5A c.4171G>A p.Gly1391Arg Missense 23/28 -
11-2604756-C-T KCNQ1 c.1013C>T p.Ser338Phe Missense 7/16 -
11-2594211-G-C KCNQ1 c.916G>C p.Gly306Arg Missense 6/16 -
7-150648792-C-G KCNH2 c.1689G>C p.Trp563Cys Missense 7/15 -
7-150648792-C-A KCNH2 c.1689G>T p.Trp563Cys Missense 7/15 -
7-150649790-T-C KCNH2 c.1280A>G p.Tyr427Cys Missense 6/15 -
7-150649790-T-G KCNH2 c.1280A>C p.Tyr427Ser Missense 6/15 -
7-150648656-C-T KCNH2 c.1825G>A p.Asp609Asn Missense 7/15 -
11-2591858-G-A KCNQ1 c.478G>A p.Glu160Lys Missense 3/16 -
11-2797268-A-G KCNQ1 c.1669A>G p.Lys557Glu Missense 13/16 -
7-150648656-C-A KCNH2 c.1825G>T p.Asp609Tyr Missense 7/15 -
7-150648656-C-G KCNH2 c.1825G>C p.Asp609His Missense 7/15 -
11-2594199-G-A KCNQ1 c.904G>A p.Ala302Thr Missense 6/16 -
7-150649674-C-A KCNH2 c.1396G>T p.Asp466Tyr Missense 6/15 -
11-2608809-A-G KCNQ1 c.1138A>G p.Arg380Gly Missense 9/16 -
7-150648561-G-T KCNH2 c.1920C>A p.Phe640Leu Missense 7/15 -
3-38592995-C-A SCN5A c.4868G>T p.Arg1623Leu Missense 28/28 -
7-150648561-G-C KCNH2 c.1920C>G p.Phe640Leu Missense 7/15 -
3-38592995-C-T SCN5A c.4868G>A p.Arg1623Gln Missense 28/28 -
3-38628924-C-T SCN5A c.2403G>A p.Met801Ile Missense 15/28 -
3-38628924-C-A SCN5A c.2403G>T p.Met801Ile Missense 15/28 -
11-2869084-G-C KCNQ1 c.1882G>C p.Gly628Arg Missense 16/16 -
11-2593331-C-A KCNQ1 c.772C>A p.His258Asn Missense 5/16 -
7-150671981-A-T KCNH2 c.125T>A p.Ile42Asn Missense 2/15 -
3-38592986-C-G SCN5A c.4877G>C p.Arg1626Pro Missense 28/28 -
11-2592629-A-C KCNQ1 c.679A>C p.Ile227Leu Missense 4/16 -
7-150648581-T-C KCNH2 c.1900A>G p.Thr634Ala Missense 7/15 -
11-2593263-T-A KCNQ1 c.704T>A p.Ile235Asn Missense 5/16 -
3-38640461-TCC-AGC SCN5A c.1969_1971delGGAinsAGC p.Gly657Ser Missense 13/28 -
11-2604683-G-T KCNQ1 c.940G>T p.Gly314Cys Missense 7/16 -
7-150648607-A-G KCNH2 c.1874T>C p.Val625Ala Missense 7/15 -
7-150646026-T-C KCNH2 c.2510A>G p.Asp837Gly Missense 10/15 -
7-150648607-A-T KCNH2 c.1874T>A p.Val625Glu Missense 7/15 -
3-38648274-TAG-TTT SCN5A c.1024_1026delCTAinsTTT p.Leu342Phe Missense 9/28 -
11-2604716-G-A KCNQ1 c.973G>A p.Gly325Arg Missense 7/16 -
11-2592555-A-G KCNQ1 c.605A>G p.Asp202Gly Missense 4/16 -
11-2606458-G-T KCNQ1 c.1049G>T p.Gly350Val Missense 8/16 -
11-2608845-T-A KCNQ1 c.1174T>A p.Trp392Arg Missense 9/16 -
7-150648578-T-C KCNH2 c.1903A>G p.Asn635Asp Missense 7/15 -
11-2549220-C-G KCNQ1 c.449C>G p.Ala150Gly Missense 2/16 -
11-2593281-T-G KCNQ1 c.722T>G p.Val241Gly Missense 5/16 -
3-38646236-T-C SCN5A c.1502A>G p.Asp501Gly Missense 11/28 -
11-2790109-T-C KCNQ1 c.1550T>C p.Ile517Thr Missense 12/16 -
7-150647290-C-G KCNH2 c.2364G>C p.Glu788Asp Missense 9/15 -
7-150648788-C-T KCNH2 c.1693G>A p.Ala565Thr Missense 7/15 -
11-2592558-T-C KCNQ1 c.608T>C p.Leu203Pro Missense 4/16 -
11-2592624-C-T KCNQ1 c.674C>T p.Ser225Leu Missense 4/16 -
11-2591972-A-G KCNQ1 c.592A>G p.Ile198Val Missense 3/16 -
11-2869028-T-A KCNQ1 c.1826T>A p.Ile609Asn Missense 16/16 -
7-150672029-C-A KCNH2 c.77G>T p.Ser26Ile Missense 2/15 -
11-2606455-C-G KCNQ1 c.1046C>G p.Ser349Trp Missense 8/16 -
11-2606460-T-C KCNQ1 c.1051T>C p.Phe351Leu Missense 8/16 -
11-2594208-T-A KCNQ1 c.913T>A p.Trp305Arg Missense 6/16 -
3-38640463-C-T SCN5A c.1969G>A p.Gly657Arg Missense 13/28 -
3-38608018-T-G SCN5A c.3722A>C p.Tyr1241Ser Missense 21/28 -
7-150646129-C-A KCNH2 c.2407G>T p.Asp803Tyr Missense 10/15 -
11-2608855-A-C KCNQ1 c.1184A>C p.Tyr395Ser Missense 9/16 -
11-2606462-T-A KCNQ1 c.1053T>A p.Phe351Leu Missense 8/16 -
11-2798216-G-T KCNQ1 c.1686G>T p.Arg562Ser Missense 14/16 -
11-2798216-G-C KCNQ1 c.1686G>C p.Arg562Ser Missense 14/16 -
7-150671802-C-G KCNH2 c.304G>C p.Asp102His Missense 2/15 -
7-150648202-A-C KCNH2 c.1952T>G p.Met651Arg Missense 8/15 -
7-150648634-T-C KCNH2 c.1847A>G p.Tyr616Cys Missense 7/15 -
3-38597174-C-G SCN5A c.4515G>C p.Lys1505Asn Missense 26/28 -
3-38597174-C-A SCN5A c.4515G>T p.Lys1505Asn Missense 26/28 -
3-38628904-C-G SCN5A c.2423G>C p.Arg808Pro Missense 15/28 -
7-150648785-A-T KCNH2 c.1696T>A p.Cys566Ser Missense 7/15 -
11-2604717-G-A KCNQ1 c.974G>A p.Gly325Glu Missense 7/16 -
11-2594079-C-G KCNQ1 c.784C>G p.Leu262Val Missense 6/16 -
11-2606470-A-G KCNQ1 c.1061A>G p.Lys354Arg Missense 8/16 -
3-38651362-A-G SCN5A c.797T>C p.Leu266Pro Missense 7/28 -
3-38639233-T-C SCN5A c.2249A>G p.Gln750Arg Missense 14/28 -
11-2604758-T-G KCNQ1 c.1015T>G p.Phe339Val Missense 7/16 -
7-150647271-C-T KCNH2 c.2383G>A p.Val795Ile Missense 9/15 -
11-2606462-T-G KCNQ1 c.1053T>G p.Phe351Leu Missense 8/16 -
3-38592582-G-A SCN5A c.5281C>T p.Leu1761Phe Missense 28/28 -
7-150649683-A-G KCNH2 c.1387T>C p.Phe463Leu Missense 6/15 -
11-2593334-C-T KCNQ1 c.775C>T p.Arg259Cys Missense 5/16 -
7-150646119-C-T KCNH2 c.2417G>A p.Gly806Glu Missense 10/15 -
7-150671813-A-G KCNH2 c.293T>C p.Phe98Ser Missense 2/15 -
11-2591952-T-C KCNQ1 c.572T>C p.Leu191Pro Missense 3/16 -
7-150648651-C-A KCNH2 c.1830G>T p.Lys610Asn Missense 7/15 -
7-150646059-G-A KCNH2 c.2477C>T p.Thr826Ile Missense 10/15 -
7-150648664-G-A KCNH2 c.1817C>T p.Ser606Phe Missense 7/15 -
7-150648650-A-C KCNH2 c.1831T>G p.Tyr611Asp Missense 7/15 -
3-38595903-C-G SCN5A c.4680G>C p.Leu1560Phe Missense 27/28 -
7-150648650-A-G KCNH2 c.1831T>C p.Tyr611His Missense 7/15 -
11-2798232-G-A KCNQ1 c.1702G>A p.Gly568Arg Missense 14/16 -
11-2466468-G-T KCNQ1 c.140G>T p.Gly47Val Missense 1/16 -
11-2593335-G-A KCNQ1 c.776G>A p.Arg259His Missense 5/16 -
11-2593335-G-T KCNQ1 c.776G>T p.Arg259Leu Missense 5/16 -
11-2593283-G-T KCNQ1 c.724G>T p.Asp242Tyr Missense 5/16 -
11-2593283-G-A KCNQ1 c.724G>A p.Asp242Asn Missense 5/16 -
7-150646122-A-G KCNH2 c.2414T>C p.Phe805Ser Missense 10/15 -
7-150648010-G-A KCNH2 c.2144C>T p.Ala715Val Missense 8/15 -
7-150646122-A-C KCNH2 c.2414T>G p.Phe805Cys Missense 10/15 -
7-150671838-C-T KCNH2 c.268G>A p.Glu90Lys Missense 2/15 -
7-150648638-G-A KCNH2 c.1843C>T p.Leu615Phe Missense 7/15 -
11-2604674-A-G KCNQ1 c.931A>G p.Thr311Ala Missense 7/16 -
7-150672014-A-G KCNH2 c.92T>C p.Ile31Thr Missense 2/15 -
7-150672014-A-C KCNH2 c.92T>G p.Ile31Ser Missense 2/15 -
11-2604689-G-A KCNQ1 c.946G>A p.Gly316Arg Missense 7/16 -
11-2549168-G-A KCNQ1 c.397G>A p.Val133Ile Missense 2/16 -
7-150671852-G-A KCNH2 c.254C>T p.Ala85Val Missense 2/15 -
11-2591898-T-A KCNQ1 c.518T>A p.Val173Asp Missense 3/16 -
11-2466709-C-A KCNQ1 c.381C>A p.Phe127Leu Missense 1/16 -
7-150671900-A-G KCNH2 c.206T>C p.Leu69Pro Missense 2/15 -
7-150671934-C-T KCNH2 c.172G>A p.Glu58Lys Missense 2/15 -
11-2591964-G-C KCNQ1 c.584G>C p.Arg195Pro Missense 3/16 -
11-2608845-T-C KCNQ1 c.1174T>C p.Trp392Arg Missense 9/16 -
7-150648539-C-T KCNH2 c.1942G>A p.Gly648Ser Missense 7/15 -
7-150671975-C-T KCNH2 c.131G>A p.Cys44Tyr Missense 2/15 -
11-2606505-C-T KCNQ1 c.1096C>T p.Arg366Trp Missense 8/16 -
7-150648570-C-A KCNH2 c.1911G>T p.Glu637Asp Missense 7/15 -
3-38597205-T-G SCN5A c.4484A>C p.Tyr1495Ser Missense 26/28 -
7-150648680-C-T KCNH2 c.1801G>A p.Gly601Ser Missense 7/15 -
11-2594209-G-T KCNQ1 c.914G>T p.Trp305Leu Missense 6/16 -
7-150646033-G-A KCNH2 c.2503C>T p.Arg835Trp Missense 10/15 -
11-2604678-C-G KCNQ1 c.935C>G p.Thr312Ser Missense 7/16 -
11-2604678-C-T KCNQ1 c.935C>T p.Thr312Ile Missense 7/16 -
7-150648584-T-C KCNH2 c.1897A>G p.Asn633Asp Missense 7/15 -
7-150648595-T-G KCNH2 c.1886A>C p.Asn629Thr Missense 7/15 -
11-2591955-G-C KCNQ1 c.575G>C p.Arg192Pro Missense 3/16 -
11-2549163-T-C KCNQ1 c.392T>C p.Leu131Pro Missense 2/16 -
7-150646027-C-G KCNH2 c.2509G>C p.Asp837His Missense 10/15 -
7-150671949-C-T KCNH2 c.157G>A p.Gly53Ser Missense 2/15 -
7-150648100-C-T KCNH2 c.2054G>A p.Arg685His Missense 8/15 -
3-38671853-A-G SCN5A c.341T>C p.Leu114Pro Missense 3/28 -
11-2594077-A-T KCNQ1 c.782A>T p.Glu261Val Missense 6/16 -
7-150648800-C-T KCNH2 c.1681G>A p.Ala561Thr Missense 7/15 -
7-150648800-C-G KCNH2 c.1681G>C p.Ala561Pro Missense 7/15 -
11-2549207-G-A KCNQ1 c.436G>A p.Glu146Lys Missense 2/16 -
3-38592393-G-C SCN5A c.5470C>G p.Pro1824Ala Missense 28/28 -
11-2549208-A-G KCNQ1 c.437A>G p.Glu146Gly Missense 2/16 -
7-150648761-T-C KCNH2 c.1720A>G p.Met574Val Missense 7/15 -
11-2604701-C-G KCNQ1 c.958C>G p.Pro320Ala Missense 7/16 -
11-2594212-G-T KCNQ1 c.917G>T p.Gly306Val Missense 6/16 -
7-150671924-T-C KCNH2 c.182A>G p.Gln61Arg Missense 2/15 -
7-150671810-T-G KCNH2 c.296A>C p.Tyr99Ser Missense 2/15 -
11-2797262-C-T KCNQ1 c.1663C>T p.Arg555Cys Missense 13/16 -
7-150648712-C-A KCNH2 c.1769G>T p.Gly590Val Missense 7/15 -
11-2797262-C-A KCNQ1 c.1663C>A p.Arg555Ser Missense 13/16 -
7-150648551-C-A KCNH2 c.1930G>T p.Val644Phe Missense 7/15 -
7-150648695-G-A KCNH2 c.1786C>T p.Pro596Ser Missense 7/15 -
7-150648695-G-C KCNH2 c.1786C>G p.Pro596Ala Missense 7/15 -
11-2593275-T-C KCNQ1 c.716T>C p.Leu239Pro Missense 5/16 -
3-38647569-A-T SCN5A c.1211T>A p.Leu404Gln Missense 10/28 -
3-38597954-T-C SCN5A c.4415A>G p.Asn1472Ser Missense 25/28 -
7-150671913-T-G KCNH2 c.193A>C p.Thr65Pro Missense 2/15 -
7-150649704-C-A KCNH2 c.1366G>T p.Asp456Tyr Missense 6/15 -
11-2591931-A-G KCNQ1 c.551A>G p.Tyr184Cys Missense 3/16 -
7-150646092-G-A KCNH2 c.2444C>T p.Pro815Leu Missense 10/15 -
11-2790096-A-T KCNQ1 c.1537A>T p.Thr513Ser Missense 12/16 -
3-38592563-T-C SCN5A c.5300A>G p.Tyr1767Cys Missense 28/28 -
7-150648703-A-G KCNH2 c.1778T>C p.Ile593Thr Missense 7/15 -
7-150648790-A-G KCNH2 c.1691T>C p.Leu564Pro Missense 7/15 -
11-2606502-A-C KCNQ1 c.1093A>C p.Asn365His Missense 8/16 -
7-150648703-A-T KCNH2 c.1778T>A p.Ile593Lys Missense 7/15 -
3-38601888-G-A SCN5A c.3995C>T p.Pro1332Leu Missense 23/28 -
7-150648602-A-T KCNH2 c.1879T>A p.Phe627Ile Missense 7/15 -
7-150656792-G-A KCNH2 c.340C>T p.Pro114Ser Missense 3/15 -
11-2604763-T-A KCNQ1 c.1020T>A p.Phe340Leu Missense 7/16 -
7-150648898-C-G KCNH2 c.1583G>C p.Arg528Pro Missense 7/15 -
11-2799244-C-T KCNQ1 c.1771C>T p.Arg591Cys Missense 15/16 -
7-150649580-C-A KCNH2 c.1490G>T p.Trp497Leu Missense 6/15 -
3-38662438-GG-AG SCN5A c.506_507delCCinsAG p.Thr169Lys Missense 5/28 -
11-2797242-G-A KCNQ1 c.1643G>A p.Gly548Asp Missense 13/16 -
3-38592513-C-T SCN5A c.5350G>A p.Glu1784Lys Missense 28/28 -
7-150647334-C-A KCNH2 c.2320G>T p.Asp774Tyr Missense 9/15 -
3-38627451-C-T SCN5A c.2518G>A p.Gly840Arg Missense 16/28 -
11-2591959-T-A KCNQ1 c.579T>A p.Phe193Leu Missense 3/16 -
11-2594137-A-G KCNQ1 c.842A>G p.Tyr281Cys Missense 6/16 -
11-2869085-G-C KCNQ1 c.1883G>C p.Gly628Ala Missense 16/16 -
11-2799229-A-G KCNQ1 c.1756A>G p.Asn586Asp Missense 15/16 -
7-150671868-C-G KCNH2 c.238G>C p.Ala80Pro Missense 2/15 -
3-38592255-C-T SCN5A c.5608G>A p.Ala1870Thr Missense 28/28 -
11-2466660-A-G KCNQ1 c.332A>G p.Tyr111Cys Missense 1/16 -
7-150648796-T-C KCNH2 c.1685A>G p.His562Arg Missense 7/15 -
11-2869085-G-A KCNQ1 c.1883G>A p.Gly628Asp Missense 16/16 -
11-2869085-G-T KCNQ1 c.1883G>T p.Gly628Val Missense 16/16 -
7-150674955-T-G KCNH2 c.47A>C p.Asp16Ala Missense 1/15 -
11-2466693-G-A KCNQ1 c.365G>A p.Cys122Tyr Missense 1/16 -
11-2790132-G-A KCNQ1 c.1573G>A p.Ala525Thr Missense 12/16 -
11-2604771-C-T KCNQ1 c.1028C>T p.Pro343Leu Missense 7/16 -
11-2591959-T-G KCNQ1 c.579T>G p.Phe193Leu Missense 3/16 -
7-150646072-C-T KCNH2 c.2464G>A p.Val822Met Missense 10/15 -
11-2797280-A-G KCNQ1 c.1681A>G p.Arg561Gly Missense 13/16 -
7-150671885-G-C KCNH2 c.221C>G p.Thr74Arg Missense 2/15 -
7-150646015-C-A KCNH2 c.2521G>T p.Val841Leu Missense 10/15 -
7-150646015-C-G KCNH2 c.2521G>C p.Val841Leu Missense 10/15 -
7-150648651-C-G KCNH2 c.1830G>C p.Lys610Asn Missense 7/15 -
11-2466654-G-T KCNQ1 c.326G>T p.Arg109Leu Missense 1/16 -
7-150648073-C-T KCNH2 c.2081G>A p.Arg694His Missense 8/15 -
11-2604669-C-T KCNQ1 c.926C>T p.Thr309Ile Missense 7/16 -
11-2604669-C-G KCNQ1 c.926C>G p.Thr309Arg Missense 7/16 -
7-150648595-T-A KCNH2 c.1886A>T p.Asn629Ile Missense 7/15 -
11-2594127-T-C KCNQ1 c.832T>C p.Tyr278His Missense 6/16 -
3-38601907-C-A SCN5A c.3976G>T p.Ala1326Ser Missense 23/28 -
11-2592576-C-T KCNQ1 c.626C>T p.Ser209Phe Missense 4/16 -
3-38646330-T-C SCN5A c.1408A>G p.Asn470Asp Missense 11/28 -
11-2604677-A-T KCNQ1 c.934A>T p.Thr312Ser Missense 7/16 -
11-2606510-G-C KCNQ1 c.1101G>C p.Gln367His Missense 8/16 -
3-38627442-T-C SCN5A c.2527A>G p.Thr843Ala Missense 16/28 -
11-2591946-G-A KCNQ1 c.566G>A p.Gly189Glu Missense 3/16 -
3-38601907-C-G SCN5A c.3976G>C p.Ala1326Pro Missense 23/28 -
7-150646078-C-T KCNH2 c.2458G>A p.Gly820Arg Missense 10/15 -
11-2869084-G-A KCNQ1 c.1882G>A p.Gly628Ser Missense 16/16 -
7-150648622-C-T KCNH2 c.1859G>A p.Ser620Asn Missense 7/15 -
3-38622828-GA-AA SCN5A c.2821_2822delTCinsAA p.Ser941Asn Missense 17/28 -
7-150646072-C-A KCNH2 c.2464G>T p.Val822Leu Missense 10/15 -
7-150648889-C-T KCNH2 c.1592G>A p.Arg531Gln Missense 7/15 -
7-150646072-C-G KCNH2 c.2464G>C p.Val822Leu Missense 10/15 -
7-150649832-A-G KCNH2 c.1238T>C p.Leu413Pro Missense 6/15 -
3-38601813-G-A SCN5A c.4070C>T p.Ala1357Val Missense 23/28 -
7-150648670-C-T KCNH2 c.1811G>A p.Gly604Asp Missense 7/15 -
11-2604683-G-C KCNQ1 c.940G>C p.Gly314Arg Missense 7/16 -
7-150672012-C-T KCNH2 c.94G>A p.Ala32Thr Missense 2/15 -
11-2466709-C-G KCNQ1 c.381C>G p.Phe127Leu Missense 1/16 -
11-2591882-G-C KCNQ1 c.502G>C p.Gly168Arg Missense 3/16 -
7-150647397-C-A KCNH2 c.2257G>T p.Ala753Ser Missense 9/15 -
11-2604690-G-A KCNQ1 c.947G>A p.Gly316Glu Missense 7/16 -
3-38662377-G-A SCN5A c.568C>T p.Arg190Trp Missense 5/28 -
11-2604690-G-T KCNQ1 c.947G>T p.Gly316Val Missense 7/16 -
3-38595903-C-A SCN5A c.4680G>T p.Leu1560Phe Missense 27/28 -
7-150647472-T-A KCNH2 c.2182A>T p.Ile728Phe Missense 9/15 -
7-150648776-A-G KCNH2 c.1705T>C p.Tyr569His Missense 7/15 -
7-150671898-G-T KCNH2 c.208C>A p.His70Asn Missense 2/15 -
11-2799241-G-A KCNQ1 c.1768G>A p.Ala590Thr Missense 15/16 -
11-2797260-T-C KCNQ1 c.1661T>C p.Val554Ala Missense 13/16 -
11-2466672-A-G KCNQ1 c.344A>G p.Glu115Gly Missense 1/16 -
11-2593314-G-A KCNQ1 c.755G>A p.Gly252Asp Missense 5/16 -
7-150649787-G-A KCNH2 c.1283C>T p.Ser428Leu Missense 6/15 -
3-38662376-C-A SCN5A c.569G>T p.Arg190Leu Missense 5/28 -
11-2466468-G-A KCNQ1 c.140G>A p.Gly47Asp Missense 1/16 -
7-150648593-C-G KCNH2 c.1888G>C p.Val630Leu Missense 7/15 -
11-2797236-C-T KCNQ1 c.1637C>T p.Ser546Leu Missense 13/16 -
7-150648719-T-C KCNH2 c.1762A>G p.Asn588Asp Missense 7/15 -
3-38592932-C-T SCN5A c.4931G>A p.Arg1644His Missense 28/28 -
11-2799233-C-G KCNQ1 c.1760C>G p.Thr587Arg Missense 15/16 -
7-150646070-CAC-ATC KCNH2 c.2464_2466delGTGinsATC p.Val822Ile Missense 10/15 -
11-2790133-C-T KCNQ1 c.1574C>T p.Ala525Val Missense 12/16 -
7-150648186-G-C KCNH2 c.1968C>G p.Phe656Leu Missense 8/15 -
7-150648640-G-A KCNH2 c.1841C>T p.Ala614Val Missense 7/15 -
7-150648186-G-T KCNH2 c.1968C>A p.Phe656Leu Missense 8/15 -
7-150671948-C-A KCNH2 c.158G>T p.Gly53Val Missense 2/15 -
7-150671973-T-A KCNH2 c.133A>T p.Asn45Tyr Missense 2/15 -
7-150671973-T-C KCNH2 c.133A>G p.Asn45Asp Missense 2/15 -
7-150648872-G-A KCNH2 c.1609C>T p.Arg537Trp Missense 7/15 -
11-2592560-A-T KCNQ1 c.610A>T p.Ile204Phe Missense 4/16 -
11-2594076-G-C KCNQ1 c.781G>C p.Glu261Gln Missense 6/16 -
7-150649631-T-A KCNH2 c.1439A>T p.Glu480Val Missense 6/15 -
7-150648602-A-G KCNH2 c.1879T>C p.Phe627Leu Missense 7/15 -
11-2594076-G-A KCNQ1 c.781G>A p.Glu261Lys Missense 6/16 -
7-150671970-C-A KCNH2 c.136G>T p.Asp46Tyr Missense 2/15 -
7-150647292-C-T KCNH2 c.2362G>A p.Glu788Lys Missense 9/15 -
3-38648269-G-T SCN5A c.1031C>A p.Ala344Glu Missense 9/28 -
11-2549189-A-C KCNQ1 c.418A>C p.Ser140Arg Missense 2/16 -
11-2604759-T-C KCNQ1 c.1016T>C p.Phe339Ser Missense 7/16 -
7-150671894-C-T KCNH2 c.212G>A p.Gly71Glu Missense 2/15 -
3-38662376-C-T SCN5A c.569G>A p.Arg190Gln Missense 5/28 -
3-38651441-C-T SCN5A c.718G>A p.Val240Met Missense 7/28 -
3-38601898-C-T SCN5A c.3985G>A p.Gly1329Ser Missense 23/28 -
3-38592543-T-C SCN5A c.5320A>G p.Asn1774Asp Missense 28/28 -
11-2591945-G-C KCNQ1 c.565G>C p.Gly189Arg Missense 3/16 -
11-2549180-C-T KCNQ1 c.409C>T p.Leu137Phe Missense 2/16 -
3-38662417-A-C SCN5A c.528T>G p.Ile176Met Missense 5/28 -
3-38592627-C-T SCN5A c.5236G>A p.Ala1746Thr Missense 28/28 -
7-150649785-C-G KCNH2 c.1285G>C p.Ala429Pro Missense 6/15 -
7-150648768-G-C KCNH2 c.1713C>G p.Ile571Met Missense 7/15 -
3-38674719-C-G SCN5A c.80G>C p.Arg27Pro Missense 2/28 -
11-2466649-G-C KCNQ1 c.321G>C p.Gln107His Missense 1/16 -
11-2869079-G-A KCNQ1 c.1877G>A p.Gly626Asp Missense 16/16 -
11-2869079-G-T KCNQ1 c.1877G>T p.Gly626Val Missense 16/16 -
7-150648570-C-G KCNH2 c.1911G>C p.Glu637Asp Missense 7/15 -
11-2790097-C-G KCNQ1 c.1538C>G p.Thr513Ser Missense 12/16 -
7-150671921-C-T KCNH2 c.185G>A p.Arg62Gln Missense 2/15 -
3-38651452-A-G SCN5A c.707T>C p.Leu236Pro Missense 7/28 -
3-38595953-T-G SCN5A c.4630A>C p.Thr1544Pro Missense 27/28 -
7-150649811-T-C KCNH2 c.1259A>G p.Tyr420Cys Missense 6/15 -
3-38651452-A-C SCN5A c.707T>G p.Leu236Arg Missense 7/28 -
7-150648694-G-T KCNH2 c.1787C>A p.Pro596His Missense 7/15 -
7-150648694-G-A KCNH2 c.1787C>T p.Pro596Leu Missense 7/15 -
7-150648694-G-C KCNH2 c.1787C>G p.Pro596Arg Missense 7/15 -
7-150656814-G-C KCNH2 c.318C>G p.Phe106Leu Missense 3/15 -
11-2604687-A-T KCNQ1 c.944A>T p.Tyr315Phe Missense 7/16 -
11-2604687-A-C KCNQ1 c.944A>C p.Tyr315Ser Missense 7/16 -
11-2604687-A-G KCNQ1 c.944A>G p.Tyr315Cys Missense 7/16 -
7-150648704-T-C KCNH2 c.1777A>G p.Ile593Val Missense 7/15 -
11-2592563-G-A KCNQ1 c.613G>A p.Val205Met Missense 4/16 -
7-150674964-G-T KCNH2 c.38C>A p.Thr13Asn Missense 1/15 -
11-2594119-T-C KCNQ1 c.824T>C p.Phe275Ser Missense 6/16 -
11-2593251-G-A KCNQ1 c.692G>A p.Arg231His Missense 5/16 -
7-150646089-C-A KCNH2 c.2447G>T p.Gly816Val Missense 10/15 -
7-150646077-C-T KCNH2 c.2459G>A p.Gly820Glu Missense 10/15 -
7-150648757-T-C KCNH2 c.1724A>G p.Glu575Gly Missense 7/15 -
11-2604765-C-G KCNQ1 c.1022C>G p.Ala341Gly Missense 7/16 -
11-2604765-C-A KCNQ1 c.1022C>A p.Ala341Glu Missense 7/16 -
11-2798226-T-C KCNQ1 c.1696T>C p.Ser566Pro Missense 14/16 -
3-38662413-C-T SCN5A c.532G>A p.Ala178Thr Missense 5/28 -
7-150648647-C-A KCNH2 c.1834G>T p.Val612Leu Missense 7/15 -
3-38662413-C-G SCN5A c.532G>C p.Ala178Pro Missense 5/28 -
7-150647290-C-A KCNH2 c.2364G>T p.Glu788Asp Missense 9/15 -
7-150649649-G-A KCNH2 c.1421C>T p.Thr474Ile Missense 6/15 -
7-150674944-G-C KCNH2 c.58C>G p.Arg20Gly Missense 1/15 -
11-2799233-C-T KCNQ1 c.1760C>T p.Thr587Met Missense 15/16 -
3-38592561-T-C SCN5A c.5302A>G p.Ile1768Val Missense 28/28 -
11-2594205-T-A KCNQ1 c.910T>A p.Trp304Arg Missense 6/16 -
11-2594205-T-C KCNQ1 c.910T>C p.Trp304Arg Missense 6/16 -
11-2604763-T-G KCNQ1 c.1020T>G p.Phe340Leu Missense 7/16 -
7-150671972-T-C KCNH2 c.134A>G p.Asn45Ser Missense 2/15 -
7-150646078-C-G KCNH2 c.2458G>C p.Gly820Arg Missense 10/15 -
7-150648906-C-G KCNH2 c.1575G>C p.Lys525Asn Missense 7/15 -
7-150649718-G-A KCNH2 c.1352C>T p.Pro451Leu Missense 6/15 -
7-150656810-A-G KCNH2 c.322T>C p.Cys108Arg Missense 3/15 -
11-2604693-A-G KCNQ1 c.950A>G p.Asp317Gly Missense 7/16 -
11-2591967-A-C KCNQ1 c.587A>C p.Lys196Thr Missense 3/16 -
7-150648906-C-A KCNH2 c.1575G>T p.Lys525Asn Missense 7/15 -
7-150648696-T-G KCNH2 c.1785A>C p.Lys595Asn Missense 7/15 -
11-2591979-T-A KCNQ1 c.599T>A p.Ile200Asn Missense 3/16 -
7-150648563-A-C KCNH2 c.1918T>G p.Phe640Val Missense 7/15 -
11-2592621-C-T KCNQ1 c.671C>T p.Thr224Met Missense 4/16 -
11-2869033-G-T KCNQ1 c.1831G>T p.Asp611Tyr Missense 16/16 -
11-2466639-C-T KCNQ1 c.311C>T p.Thr104Ile Missense 1/16 -
7-150671886-T-G KCNH2 c.220A>C p.Thr74Pro Missense 2/15 -
3-38592567-T-A SCN5A c.5296A>T p.Met1766Leu Missense 28/28 -
11-2593293-G-T KCNQ1 c.734G>T p.Gly245Val Missense 5/16 -
11-2549165-A-C KCNQ1 c.394A>C p.Ile132Leu Missense 2/16 -
3-38647515-G-T SCN5A c.1265C>A p.Ala422Asp Missense 10/28 -
7-150671974-G-C KCNH2 c.132C>G p.Cys44Trp Missense 2/15 -
11-2549178-G-T KCNQ1 c.407G>T p.Cys136Phe Missense 2/16 -
3-38647555-G-C SCN5A c.1225C>G p.Leu409Val Missense 10/28 -
11-2593332-A-C KCNQ1 c.773A>C p.His258Pro Missense 5/16 -
11-2604689-G-C KCNQ1 c.946G>C p.Gly316Arg Missense 7/16 -
11-2797284-G-T KCNQ1 c.1685G>T p.Arg562Met Missense 13/16 -
11-2594124-T-C KCNQ1 c.829T>C p.Ser277Pro Missense 6/16 -
7-150671979-A-C KCNH2 c.127T>G p.Tyr43Asp Missense 2/15 -
7-150647300-C-T KCNH2 c.2354G>A p.Gly785Asp Missense 9/15 -
7-150647300-C-G KCNH2 c.2354G>C p.Gly785Ala Missense 9/15 -
7-150647300-C-A KCNH2 c.2354G>T p.Gly785Val Missense 9/15 -
11-2594100-G-A KCNQ1 c.805G>A p.Gly269Ser Missense 6/16 -
11-2604692-G-A KCNQ1 c.949G>A p.Asp317Asn Missense 7/16 -
11-2604675-C-T KCNQ1 c.932C>T p.Thr311Ile Missense 7/16 -
7-150649692-C-A KCNH2 c.1378G>T p.Asp460Tyr Missense 6/15 -
11-2604692-G-T KCNQ1 c.949G>T p.Asp317Tyr Missense 7/16 -
7-150645963-A-G KCNH2 c.2573T>C p.Ile858Thr Missense 10/15 -
7-150649602-C-T KCNH2 c.1468G>A p.Ala490Thr Missense 6/15 -
7-150649602-C-G KCNH2 c.1468G>C p.Ala490Pro Missense 6/15 -
11-2594112-C-T KCNQ1 c.817C>T p.Leu273Phe Missense 6/16 -
11-2799230-A-G KCNQ1 c.1757A>G p.Asn586Ser Missense 15/16 -
7-150656814-G-T KCNH2 c.318C>A p.Phe106Leu Missense 3/15 -
7-150648571-T-C KCNH2 c.1910A>G p.Glu637Gly Missense 7/15 -
7-150648629-T-A KCNH2 c.1852A>T p.Thr618Ser Missense 7/15 -
7-150649788-A-G KCNH2 c.1282T>C p.Ser428Pro Missense 6/15 -
3-38648266-C-A SCN5A c.1034G>T p.Gly345Val Missense 9/28 -
7-150648632-A-G KCNH2 c.1849T>C p.Phe617Leu Missense 7/15 -
3-38597247-C-T SCN5A c.4442G>A p.Gly1481Glu Missense 26/28 -
11-2594203-T-C KCNQ1 c.908T>C p.Leu303Pro Missense 6/16 -
7-150649871-A-T KCNH2 c.1199T>A p.Ile400Asn Missense 6/15 -
11-2799245-G-A KCNQ1 c.1772G>A p.Arg591His Missense 15/16 -
7-150672019-G-T KCNH2 c.87C>A p.Phe29Leu Missense 2/15 -
3-38595794-C-T SCN5A c.4789G>A p.Val1597Met Missense 27/28 -
3-38647554-A-G SCN5A c.1226T>C p.Leu409Pro Missense 10/28 -
7-150648169-A-G KCNH2 c.1985T>C p.Ile662Thr Missense 8/15 -
11-2549241-T-G KCNQ1 c.470T>G p.Phe157Cys Missense 2/16 -
7-150647399-C-T KCNH2 c.2255G>A p.Arg752Gln Missense 9/15 -
7-150649806-C-T KCNH2 c.1264G>A p.Ala422Thr Missense 6/15 -
7-150648548-T-G KCNH2 c.1933A>C p.Met645Leu Missense 7/15 -
7-150648548-T-C KCNH2 c.1933A>G p.Met645Val Missense 7/15 -
7-150648548-T-A KCNH2 c.1933A>T p.Met645Leu Missense 7/15 -
7-150649793-G-T KCNH2 c.1277C>A p.Pro426His Missense 6/15 -
3-38592908-A-C SCN5A c.4955T>G p.Met1652Arg Missense 28/28 -
7-150648623-T-C KCNH2 c.1858A>G p.Ser620Gly Missense 7/15 -
11-2790090-C-T KCNQ1 c.1531C>T p.Arg511Trp Missense 12/16 -
7-150671819-A-G KCNH2 c.287T>C p.Ile96Thr Missense 2/15 -
11-2869078-G-A KCNQ1 c.1876G>A p.Gly626Ser Missense 16/16 -
3-38648281-C-T SCN5A c.1019G>A p.Arg340Gln Missense 9/28 -
11-2593287-G-C KCNQ1 c.728G>C p.Arg243Pro Missense 5/16 -
7-150671948-C-T KCNH2 c.158G>A p.Gly53Asp Missense 2/15 -
3-38592494-T-C SCN5A c.5369A>G p.Asp1790Gly Missense 28/28 -
7-150671932-C-A KCNH2 c.174G>T p.Glu58Asp Missense 2/15 -
7-150671932-C-G KCNH2 c.174G>C p.Glu58Asp Missense 2/15 -
7-150648671-C-T KCNH2 c.1810G>A p.Gly604Ser Missense 7/15 -
11-2549191-C-G KCNQ1 c.420C>G p.Ser140Arg Missense 2/16 -
7-150672024-T-C KCNH2 c.82A>G p.Lys28Glu Missense 2/15 -
7-150671939-C-T KCNH2 c.167G>A p.Arg56Gln Missense 2/15 -
7-150671805-T-C KCNH2 c.301A>G p.Lys101Glu Missense 2/15 -
3-38597996-G-T SCN5A c.4373C>A p.Ser1458Tyr Missense 25/28 -
11-2466678-C-T KCNQ1 c.350C>T p.Pro117Leu Missense 1/16 -
7-150648777-C-A KCNH2 c.1704G>T p.Trp568Cys Missense 7/15 -
7-150648613-G-A KCNH2 c.1868C>T p.Thr623Ile Missense 7/15 -
7-150648592-A-G KCNH2 c.1889T>C p.Val630Ala Missense 7/15 -
11-2591906-T-C KCNQ1 c.526T>C p.Trp176Arg Missense 3/16 -
11-2591906-T-A KCNQ1 c.526T>A p.Trp176Arg Missense 3/16 -
7-150648726-C-A KCNH2 c.1755G>T p.Trp585Cys Missense 7/15 -
7-150648726-C-G KCNH2 c.1755G>C p.Trp585Cys Missense 7/15 -
11-2594113-T-G KCNQ1 c.818T>G p.Leu273Arg Missense 6/16 -
11-2593311-T-C KCNQ1 c.752T>C p.Leu251Pro Missense 5/16 -
11-2593311-T-A KCNQ1 c.752T>A p.Leu251Gln Missense 5/16 -
7-150648725-G-T KCNH2 c.1756C>A p.Leu586Met Missense 7/15 -
11-2799245-G-T KCNQ1 c.1772G>T p.Arg591Leu Missense 15/16 -
7-150671949-C-G KCNH2 c.157G>C p.Gly53Arg Missense 2/15 -
3-38592479-T-C SCN5A c.5384A>G p.Tyr1795Cys Missense 28/28 -
11-2591957-T-C KCNQ1 c.577T>C p.Phe193Leu Missense 3/16 -
11-2606506-G-A KCNQ1 c.1097G>A p.Arg366Gln Missense 8/16 -
11-2594140-T-C KCNQ1 c.845T>C p.Leu282Pro Missense 6/16 -
3-38647627-C-T SCN5A c.1153G>A p.Ala385Thr Missense 10/28 -
11-2606506-G-C KCNQ1 c.1097G>C p.Arg366Pro Missense 8/16 -
7-150648767-C-T KCNH2 c.1714G>A p.Gly572Ser Missense 7/15 -
7-150648767-C-A KCNH2 c.1714G>T p.Gly572Cys Missense 7/15 -
7-150648767-C-G KCNH2 c.1714G>C p.Gly572Arg Missense 7/15 -
11-2608811-G-T KCNQ1 c.1140G>T p.Arg380Ser Missense 9/16 -
11-2594211-G-A KCNQ1 c.916G>A p.Gly306Arg Missense 6/16 -
11-2606467-T-C KCNQ1 c.1058T>C p.Leu353Pro Missense 8/16 -
8-81897603-T-C PAG1 c.284A>G p.Glu95Gly Missense 7/9 -
3-38674585-G-T SCN5A c.214C>A p.Pro72Thr Missense 2/28 -
11-2604771-C-G KCNQ1 c.1028C>G p.Pro343Arg Missense 7/16 -
3-38651426-G-T SCN5A c.733C>A p.Gln245Lys Missense 7/28 -
11-2591928-A-G KCNQ1 c.548A>G p.Lys183Arg Missense 3/16 -
11-2591928-A-T KCNQ1 c.548A>T p.Lys183Met Missense 3/16 -
11-2604686-T-C KCNQ1 c.943T>C p.Tyr315His Missense 7/16 -
11-2604686-T-A KCNQ1 c.943T>A p.Tyr315Asn Missense 7/16 -
7-150648808-G-T KCNH2 c.1673C>A p.Ala558Glu Missense 7/15 -
3-38647562-G-T SCN5A c.1218C>A p.Asn406Lys Missense 10/28 -
7-150671874-C-T KCNH2 c.232G>A p.Ala78Thr Missense 2/15 -
11-2798230-T-C KCNQ1 c.1700T>C p.Ile567Thr Missense 14/16 -
3-38592915-G-A SCN5A c.4948C>T p.Leu1650Phe Missense 28/28 -
3-38655263-C-G SCN5A c.674G>C p.Arg225Pro Missense 6/28 -
7-150648580-G-A KCNH2 c.1901C>T p.Thr634Ile Missense 7/15 -
11-2798230-T-G KCNQ1 c.1700T>G p.Ile567Ser Missense 14/16 -
11-2606494-A-G KCNQ1 c.1085A>G p.Lys362Arg Missense 8/16 -
11-2594125-C-T KCNQ1 c.830C>T p.Ser277Leu Missense 6/16 -
11-2604697-G-T KCNQ1 c.954G>T p.Lys318Asn Missense 7/16 -
7-150648668-G-A KCNH2 c.1813C>T p.Pro605Ser Missense 7/15 -
11-2594125-C-G KCNQ1 c.830C>G p.Ser277Trp Missense 6/16 -
7-150671801-T-G KCNH2 c.305A>C p.Asp102Ala Missense 2/15 -
7-150649841-C-G KCNH2 c.1229G>C p.Trp410Ser Missense 6/15 -
7-150671801-T-A KCNH2 c.305A>T p.Asp102Val Missense 2/15 -
7-150671915-C-T KCNH2 c.191G>A p.Cys64Tyr Missense 2/15 -
11-2606510-G-T KCNQ1 c.1101G>T p.Gln367His Missense 8/16 -
11-2606461-T-C KCNQ1 c.1052T>C p.Phe351Ser Missense 8/16 -
11-2604770-C-T KCNQ1 c.1027C>T p.Pro343Ser Missense 7/16 -
3-38592567-T-G SCN5A c.5296A>C p.Met1766Leu Missense 28/28 -
11-2606526-T-C KCNQ1 c.1117T>C p.Ser373Pro Missense 8/16 -
3-38651410-A-G SCN5A c.749T>C p.Leu250Pro Missense 7/28 -
11-2549172-T-C KCNQ1 c.401T>C p.Leu134Pro Missense 2/16 -
3-38592567-T-C SCN5A c.5296A>G p.Met1766Val Missense 28/28 -
3-38645534-A-C SCN5A c.1559T>G p.Met520Arg Missense 12/28 -
11-2798233-G-C KCNQ1 c.1703G>C p.Gly568Ala Missense 14/16 -
11-2466707-T-C KCNQ1 c.379T>C p.Phe127Leu Missense 1/16 -
7-150672008-T-G KCNH2 c.98A>C p.Asn33Thr Missense 2/15 -
3-38648266-C-G SCN5A c.1034G>C p.Gly345Ala Missense 9/28 -
7-150648567-C-G KCNH2 c.1914G>C p.Lys638Asn Missense 7/15 -
7-150648567-C-A KCNH2 c.1914G>T p.Lys638Asn Missense 7/15 -
3-38592283-C-A SCN5A c.5580G>T p.Arg1860Ser Missense 28/28 -
7-150672003-G-A KCNH2 c.103C>T p.Arg35Trp Missense 2/15 -
3-38592283-C-G SCN5A c.5580G>C p.Arg1860Ser Missense 28/28 -
3-38648269-G-A SCN5A c.1031C>T p.Ala344Val Missense 9/28 -
7-150648794-A-C KCNH2 c.1687T>G p.Trp563Gly Missense 7/15 -
3-38592926-A-C SCN5A c.4937T>G p.Leu1646Arg Missense 28/28 -
11-2797263-G-A KCNQ1 c.1664G>A p.Arg555His Missense 13/16 -
7-150646083-G-A KCNH2 c.2453C>T p.Ser818Leu Missense 10/15 -
7-150648632-A-C KCNH2 c.1849T>G p.Phe617Val Missense 7/15 -
11-2604761-T-C KCNQ1 c.1018T>C p.Phe340Leu Missense 7/16 -
7-150648784-C-A KCNH2 c.1697G>T p.Cys566Phe Missense 7/15 -
7-150648784-C-G KCNH2 c.1697G>C p.Cys566Ser Missense 7/15 -
7-150656809-C-T KCNH2 c.323G>A p.Cys108Tyr Missense 3/15 -
11-2797275-TG-AT KCNQ1 c.1676_1677delTGinsAT p.Leu559His Missense 13/16 -
3-38645343-C-T SCN5A c.1750G>A p.Gly584Ser Missense 12/28 -
11-2591900-C-T KCNQ1 c.520C>T p.Arg174Cys Missense 3/16 -
7-150671933-T-G KCNH2 c.173A>C p.Glu58Ala Missense 2/15 -
7-150671933-T-C KCNH2 c.173A>G p.Glu58Gly Missense 2/15 -
7-150671960-C-T KCNH2 c.146G>A p.Cys49Tyr Missense 2/15 -
3-38627451-C-G SCN5A c.2518G>C p.Gly840Arg Missense 16/28 -
11-2798227-C-T KCNQ1 c.1697C>T p.Ser566Phe Missense 14/16 -
7-150649700-A-G KCNH2 c.1370T>C p.Leu457Pro Missense 6/15 -
3-38601909-T-C SCN5A c.3974A>G p.Asn1325Ser Missense 23/28 -
21-35742806-C-T KCNE2 c.29C>T p.Thr10Met Missense 2/2 -
7-150649592-T-G KCNH2 c.1478A>C p.Tyr493Ser Missense 6/15 -
7-150649592-T-A KCNH2 c.1478A>T p.Tyr493Phe Missense 6/15 -
7-150649592-T-C KCNH2 c.1478A>G p.Tyr493Cys Missense 6/15 -
11-2604684-G-C KCNQ1 c.941G>C p.Gly314Ala Missense 7/16 -
11-2604684-G-A KCNQ1 c.941G>A p.Gly314Asp Missense 7/16 -
3-38595802-A-G SCN5A c.4781T>C p.Phe1594Ser Missense 27/28 -
11-2604697-G-C KCNQ1 c.954G>C p.Lys318Asn Missense 7/16 -
7-150645955-T-G KCNH2 c.2581A>C p.Asn861His Missense 10/15 -
11-2593303-G-C KCNQ1 c.744G>C p.Trp248Cys Missense 5/16 -
11-2593303-G-T KCNQ1 c.744G>T p.Trp248Cys Missense 5/16 -
11-2604671-G-A KCNQ1 c.928G>A p.Val310Ile Missense 7/16 -
11-2591984-G-C KCNQ1 c.604G>C p.Asp202His Missense 3/16 -
7-150648187-A-C KCNH2 c.1967T>G p.Phe656Cys Missense 8/15 -
11-2604682-C-G KCNQ1 c.939C>G p.Ile313Met Missense 7/16 -
7-150656761-A-G KCNH2 c.371T>C p.Met124Thr Missense 3/15 -
11-2797214-C-T KCNQ1 c.1615C>T p.Arg539Trp Missense 13/16 -
7-150656761-A-C KCNH2 c.371T>G p.Met124Arg Missense 3/15 -
11-2593319-G-C KCNQ1 c.760G>C p.Val254Leu Missense 5/16 -
11-2593319-G-T KCNQ1 c.760G>T p.Val254Leu Missense 5/16 -
7-150671937-C-G KCNH2 c.169G>C p.Ala57Pro Missense 2/15 -
11-2591969-C-T KCNQ1 c.589C>T p.Pro197Ser Missense 3/16 -
7-150648628-G-C KCNH2 c.1853C>G p.Thr618Ser Missense 7/15 -
7-150649646-T-C KCNH2 c.1424A>G p.Tyr475Cys Missense 6/15 -
11-2797226-G-A KCNQ1 c.1627G>A p.Glu543Lys Missense 13/16 -
7-150674937-A-G KCNH2 c.65T>C p.Phe22Ser Missense 1/15 -
7-150674937-A-T KCNH2 c.65T>A p.Phe22Tyr Missense 1/15 -
7-150646137-C-G KCNH2 c.2399G>C p.Gly800Ala Missense 10/15 -
7-150656815-A-T KCNH2 c.317T>A p.Phe106Tyr Missense 3/15 -
3-38651409-CA-AT SCN5A c.749_750delTGinsAT p.Leu250His Missense 7/28 -
7-150645954-T-A KCNH2 c.2582A>T p.Asn861Ile Missense 10/15 -
3-38627234-T-C SCN5A c.2735A>G p.Gln912Arg Missense 16/28 -
7-150648576-G-T KCNH2 c.1905C>A p.Asn635Lys Missense 7/15 -
11-2604708-C-A KCNQ1 c.965C>A p.Thr322Lys Missense 7/16 -
11-2604708-C-T KCNQ1 c.965C>T p.Thr322Met Missense 7/16 -
7-150647383-C-G KCNH2 c.2271G>C p.Lys757Asn Missense 9/15 -
7-150647383-C-A KCNH2 c.2271G>T p.Lys757Asn Missense 9/15 -
11-2594208-T-C KCNQ1 c.913T>C p.Trp305Arg Missense 6/16 -
7-150648576-G-C KCNH2 c.1905C>G p.Asn635Lys Missense 7/15 -
11-2591946-G-C KCNQ1 c.566G>C p.Gly189Ala Missense 3/16 -
11-2797253-CT-AG KCNQ1 c.1654_1655delCTinsAG p.Leu552Ser Missense 13/16 -
7-150648691-T-C KCNH2 c.1790A>G p.Tyr597Cys Missense 7/15 -
3-38640461-TCC-TGT SCN5A c.1969_1971delGGAinsTGT p.Gly657Cys Missense 13/28 -
7-150648665-A-G KCNH2 c.1816T>C p.Ser606Pro Missense 7/15 -
7-150648917-C-T KCNH2 c.1564G>A p.Gly522Arg Missense 7/15 -
3-38655260-G-A SCN5A c.677C>T p.Ala226Val Missense 6/28 -
3-38627522-A-T SCN5A c.2447T>A p.Phe816Tyr Missense 16/28 -
11-2606520-G-A KCNQ1 c.1111G>A p.Ala371Thr Missense 8/16 -
3-38592549-G-C SCN5A c.5314C>G p.Leu1772Val Missense 28/28 -
3-38628924-C-G SCN5A c.2403G>C p.Met801Ile Missense 15/28 -
11-2606454-T-C KCNQ1 c.1045T>C p.Ser349Pro Missense 8/16 -
7-150648619-C-T KCNH2 c.1862G>A p.Ser621Asn Missense 7/15 -
11-2549229-C-T KCNQ1 c.458C>T p.Thr153Met Missense 2/16 -
7-150649791-A-G KCNH2 c.1279T>C p.Tyr427His Missense 6/15 -
7-150648799-G-A KCNH2 c.1682C>T p.Ala561Val Missense 7/15 -
7-150648583-T-C KCNH2 c.1898A>G p.Asn633Ser Missense 7/15 -
7-150648917-C-G KCNH2 c.1564G>C p.Gly522Arg Missense 7/15 -
7-150648582-G-C KCNH2 c.1899C>G p.Asn633Lys Missense 7/15 -
7-150671910-A-C KCNH2 c.196T>G p.Cys66Gly Missense 2/15 -
7-150648695-G-T KCNH2 c.1786C>A p.Pro596Thr Missense 7/15 -
3-38647590-A-G SCN5A c.1190T>C p.Ile397Thr Missense 10/28 -
11-2798218-T-C KCNQ1 c.1688T>C p.Leu563Pro Missense 14/16 -
11-2594142-G-A KCNQ1 c.847G>A p.Ala283Thr Missense 6/16 -
11-2549191-C-A KCNQ1 c.420C>A p.Ser140Arg Missense 2/16 -
7-150671897-T-C KCNH2 c.209A>G p.His70Arg Missense 2/15 -
11-2594101-G-A KCNQ1 c.806G>A p.Gly269Asp Missense 6/16 -
3-38601885-G-T SCN5A c.3998C>A p.Ser1333Tyr Missense 23/28 -
7-150648644-T-C KCNH2 c.1837A>G p.Thr613Ala Missense 7/15 -
11-2606488-G-C KCNQ1 c.1079G>C p.Arg360Thr Missense 8/16 -
11-2606488-G-T KCNQ1 c.1079G>T p.Arg360Met Missense 8/16 -
7-150646027-C-T KCNH2 c.2509G>A p.Asp837Asn Missense 10/15 -
7-150671840-G-A KCNH2 c.266C>T p.Ala89Val Missense 2/15 -
7-150648583-T-A KCNH2 c.1898A>T p.Asn633Ile Missense 7/15 -
7-150648551-C-G KCNH2 c.1930G>C p.Val644Leu Missense 7/15 -
11-2591882-G-A KCNQ1 c.502G>A p.Gly168Arg Missense 3/16 -
7-150648577-T-A KCNH2 c.1904A>T p.Asn635Ile Missense 7/15 -
7-150646027-C-A KCNH2 c.2509G>T p.Asp837Tyr Missense 10/15 -
3-38597226-G-C SCN5A c.4463C>G p.Thr1488Arg Missense 26/28 -
11-2591931-A-C KCNQ1 c.551A>C p.Tyr184Ser Missense 3/16 -
7-150649681-G-T KCNH2 c.1389C>A p.Phe463Leu Missense 6/15 -
7-150649681-G-C KCNH2 c.1389C>G p.Phe463Leu Missense 6/15 -
7-150656800-T-A KCNH2 c.332A>T p.Asp111Val Missense 3/15 -
7-150671904-A-G KCNH2 c.202T>C p.Phe68Leu Missense 2/15 -
3-38639290-G-A SCN5A c.2192C>T p.Thr731Ile Missense 14/28 -
11-2591930-T-C KCNQ1 c.550T>C p.Tyr184His Missense 3/16 -
11-2591889-A-G KCNQ1 c.509A>G p.Glu170Gly Missense 3/16 -
7-150646137-C-T KCNH2 c.2399G>A p.Gly800Glu Missense 10/15 -
7-150646069-G-A KCNH2 c.2467C>T p.Arg823Trp Missense 10/15 -
3-38627469-T-C SCN5A c.2500A>G p.Asn834Asp Missense 16/28 -
3-38597942-T-C SCN5A c.4427A>G p.Gln1476Arg Missense 25/28 -
11-2799259-G-A KCNQ1 c.1786G>A p.Glu596Lys Missense 15/16 -
7-150648779-A-G KCNH2 c.1702T>C p.Trp568Arg Missense 7/15 -
7-150648779-A-T KCNH2 c.1702T>A p.Trp568Arg Missense 7/15 -
3-38592576-C-G SCN5A c.5287G>C p.Val1763Leu Missense 28/28 -
7-150648037-G-C KCNH2 c.2117C>G p.Ser706Cys Missense 8/15 -
3-38645491-CCT-TGT SCN5A c.1600_1602delAGGinsTGT p.Arg534Cys Missense 12/28 -
3-38592576-C-T SCN5A c.5287G>A p.Val1763Met Missense 28/28 -
3-38592576-C-A SCN5A c.5287G>T p.Val1763Leu Missense 28/28 -
7-150648766-C-T KCNH2 c.1715G>A p.Gly572Asp Missense 7/15 -
11-2594110-G-T KCNQ1 c.815G>T p.Gly272Val Missense 6/16 -
11-2591945-G-A KCNQ1 c.565G>A p.Gly189Arg Missense 3/16 -
7-150648766-C-A KCNH2 c.1715G>T p.Gly572Val Missense 7/15 -
7-150648095-G-A KCNH2 c.2059C>T p.His687Tyr Missense 8/15 -
7-150648850-T-G KCNH2 c.1631A>C p.Glu544Ala Missense 7/15 -
3-38595804-G-C SCN5A c.4779C>G p.Ile1593Met Missense 27/28 -
11-2797239-A-G KCNQ1 c.1640A>G p.Gln547Arg Missense 13/16 -
11-2604707-A-G KCNQ1 c.964A>G p.Thr322Ala Missense 7/16 -
3-38648265-GC-AG SCN5A c.1034_1035delGCinsAG p.Gly345Glu Missense 9/28 -
7-150647400-G-A KCNH2 c.2254C>T p.Arg752Trp Missense 9/15 -
3-38592908-A-G SCN5A c.4955T>C p.Met1652Thr Missense 28/28 -
11-2606496-C-A KCNQ1 c.1087C>A p.His363Asn Missense 8/16 -
3-38597951-A-C SCN5A c.4418T>G p.Phe1473Cys Missense 25/28 -
3-38597951-A-G SCN5A c.4418T>C p.Phe1473Ser Missense 25/28 -
7-150648647-C-T KCNH2 c.1834G>A p.Val612Met Missense 7/15 -
7-150648647-C-G KCNH2 c.1834G>C p.Val612Leu Missense 7/15 -
11-2790124-A-C KCNQ1 c.1565A>C p.Tyr522Ser Missense 12/16 -
7-150648572-C-T KCNH2 c.1909G>A p.Glu637Lys Missense 7/15 -
11-2593245-G-A KCNQ1 c.686G>A p.Gly229Asp Missense 5/16 -
3-38627487-G-C SCN5A c.2482C>G p.Leu828Val Missense 16/28 -
11-2593302-GG-TT KCNQ1 c.743_744delGGinsTT p.Trp248Phe Missense 5/16 -
7-150648620-T-G KCNH2 c.1861A>C p.Ser621Arg Missense 7/15 -
7-150648698-T-C KCNH2 c.1783A>G p.Lys595Glu Missense 7/15 -
11-2604765-C-T KCNQ1 c.1022C>T p.Ala341Val Missense 7/16 -
11-2593250-C-T KCNQ1 c.691C>T p.Arg231Cys Missense 5/16 -
3-38645327-C-T SCN5A c.1766G>A p.Gly589Asp Missense 12/28 -
7-150648770-T-G KCNH2 c.1711A>C p.Ile571Leu Missense 7/15 -
11-2594200-C-T KCNQ1 c.905C>T p.Ala302Val Missense 6/16 -
7-150646000-G-T KCNH2 c.2536C>A p.Pro846Thr Missense 10/15 -
3-38647549-C-T SCN5A c.1231G>A p.Val411Met Missense 10/28 -
11-2608837-C-A KCNQ1 c.1166C>A p.Ser389Tyr Missense 9/16 -
3-38651386-A-G SCN5A c.773T>C p.Val258Ala Missense 7/28 -