Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
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 | - |
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 | - |
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 | - |
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 | - |
11-2799254-G-A | KCNQ1 | c.1781G>A | p.Arg594Gln | Missense | 15/16 | - |
7-150671902-G-T | KCNH2 | c.204C>A | p.Phe68Leu | Missense | 2/15 | - |
3-38628992-G-T | SCN5A | c.2335C>A | p.Gln779Lys | Missense | 15/28 | - |
7-150649596-G-A | KCNH2 | c.1474C>T | p.His492Tyr | Missense | 6/15 | - |
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 | - |
11-2608806-T-G | KCNQ1 | c.1135T>G | p.Trp379Gly | Missense | 9/16 | - |
11-2593317-C-G | KCNQ1 | c.758C>G | p.Ser253Cys | Missense | 5/16 | - |
11-2594089-C-T | KCNQ1 | c.794C>T | p.Thr265Ile | Missense | 6/16 | - |
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-T | SCN5A | c.1501G>A | p.Asp501Asn | Missense | 11/28 | - |
7-150648594-G-C | KCNH2 | c.1887C>G | p.Asn629Lys | Missense | 7/15 | - |
3-38646237-C-G | SCN5A | c.1501G>C | p.Asp501His | Missense | 11/28 | - |
11-2593319-G-A | KCNQ1 | c.760G>A | p.Val254Met | Missense | 5/16 | - |
7-150648594-G-T | KCNH2 | c.1887C>A | p.Asn629Lys | Missense | 7/15 | - |
11-2604666-T-A | KCNQ1 | c.923T>A | p.Val308Asp | Missense | 7/16 | - |
3-38592347-T-C | SCN5A | c.5516A>G | p.Asp1839Gly | Missense | 28/28 | - |
7-150656816-A-G | KCNH2 | c.316T>C | p.Phe106Leu | Missense | 3/15 | - |
7-150671902-G-C | KCNH2 | c.204C>G | p.Phe68Leu | Missense | 2/15 | - |
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 | - |
7-150648590-A-C | KCNH2 | c.1891T>G | p.Ser631Ala | Missense | 7/15 | - |
7-150671873-G-A | KCNH2 | c.233C>T | p.Ala78Val | Missense | 2/15 | - |
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 | - |
7-150648700-C-T | KCNH2 | c.1781G>A | p.Gly594Asp | Missense | 7/15 | - |
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 | - |
7-150671985-C-A | KCNH2 | c.121G>T | p.Val41Phe | Missense | 2/15 | - |
7-150648067-C-G | KCNH2 | c.2087G>C | p.Arg696Pro | Missense | 8/15 | - |
7-150648595-T-C | KCNH2 | c.1886A>G | p.Asn629Ser | Missense | 7/15 | - |
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 | - |
7-150671978-T-C | KCNH2 | c.128A>G | p.Tyr43Cys | Missense | 2/15 | - |
7-150671984-A-G | KCNH2 | c.122T>C | p.Val41Ala | Missense | 2/15 | - |
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 | - |
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 | - |
3-38651444-T-C | SCN5A | c.715A>G | p.Ile239Val | Missense | 7/28 | - |
3-38640463-C-G | SCN5A | c.1969G>C | p.Gly657Arg | Missense | 13/28 | - |
3-38592521-T-C | SCN5A | c.5342A>G | p.Glu1781Gly | Missense | 28/28 | - |
7-150647492-G-A | KCNH2 | c.2162C>T | p.Pro721Leu | Missense | 9/15 | - |
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 | - |
7-150648561-G-T | KCNH2 | c.1920C>A | p.Phe640Leu | Missense | 7/15 | - |
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 | - |
7-150648188-A-G | KCNH2 | c.1966T>C | p.Phe656Leu | Missense | 8/15 | - |
3-38598739-C-A | SCN5A | c.4282G>T | p.Ala1428Ser | Missense | 24/28 | - |
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 | - |
7-150648643-G-T | KCNH2 | c.1838C>A | p.Thr613Lys | 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 | - |
11-2604756-C-T | KCNQ1 | c.1013C>T | p.Ser338Phe | Missense | 7/16 | - |
3-38601712-C-T | SCN5A | c.4171G>A | p.Gly1391Arg | Missense | 23/28 | - |
11-2594211-G-C | KCNQ1 | c.916G>C | p.Gly306Arg | Missense | 6/16 | - |
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 | - |
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 | - |
11-2797268-A-G | KCNQ1 | c.1669A>G | p.Lys557Glu | Missense | 13/16 | - |
11-2594199-G-A | KCNQ1 | c.904G>A | p.Ala302Thr | Missense | 6/16 | - |
7-150648561-G-C | KCNH2 | c.1920C>G | p.Phe640Leu | Missense | 7/15 | - |
7-150648696-T-A | KCNH2 | c.1785A>T | p.Lys595Asn | Missense | 7/15 | - |
7-150648655-T-C | KCNH2 | c.1826A>G | p.Asp609Gly | Missense | 7/15 | - |
11-2608836-T-C | KCNQ1 | c.1165T>C | p.Ser389Pro | Missense | 9/16 | - |
7-150648536-A-G | KCNH2 | c.1945T>C | p.Ser649Pro | Missense | 7/15 | - |
11-2790130-T-G | KCNQ1 | c.1571T>G | p.Val524Gly | Missense | 12/16 | - |
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 | - |
3-38593037-G-C | SCN5A | c.4826C>G | p.Ser1609Trp | Missense | 28/28 | - |
11-2591859-A-T | KCNQ1 | c.479A>T | p.Glu160Val | Missense | 3/16 | - |
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 | - |
7-150649674-C-A | KCNH2 | c.1396G>T | p.Asp466Tyr | Missense | 6/15 | - |
11-2608809-A-G | KCNQ1 | c.1138A>G | p.Arg380Gly | Missense | 9/16 | - |
3-38628924-C-T | SCN5A | c.2403G>A | p.Met801Ile | Missense | 15/28 | - |
3-38592995-C-A | SCN5A | c.4868G>T | p.Arg1623Leu | Missense | 28/28 | - |
3-38592995-C-T | SCN5A | c.4868G>A | p.Arg1623Gln | Missense | 28/28 | - |
11-2593331-C-A | KCNQ1 | c.772C>A | p.His258Asn | Missense | 5/16 | - |
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 | - |
7-150671981-A-T | KCNH2 | c.125T>A | p.Ile42Asn | Missense | 2/15 | - |
7-150648581-T-C | KCNH2 | c.1900A>G | p.Thr634Ala | Missense | 7/15 | - |
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 | - |
11-2604683-G-T | KCNQ1 | c.940G>T | p.Gly314Cys | Missense | 7/16 | - |
3-38640461-TCC-AGC | SCN5A | c.1969_1971delGGAinsAGC | p.Gly657Ser | Missense | 13/28 | - |
7-150648607-A-T | KCNH2 | c.1874T>A | p.Val625Glu | Missense | 7/15 | - |
11-2593263-T-A | KCNQ1 | c.704T>A | p.Ile235Asn | Missense | 5/16 | - |
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 | - |
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 | - |
7-150648578-T-C | KCNH2 | c.1903A>G | p.Asn635Asp | Missense | 7/15 | - |
11-2608845-T-A | KCNQ1 | c.1174T>A | p.Trp392Arg | Missense | 9/16 | - |
11-2606458-G-T | KCNQ1 | c.1049G>T | p.Gly350Val | Missense | 8/16 | - |
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 | - |
11-2549220-C-G | KCNQ1 | c.449C>G | p.Ala150Gly | Missense | 2/16 | - |
11-2790109-T-C | KCNQ1 | c.1550T>C | p.Ile517Thr | Missense | 12/16 | - |
11-2592624-C-T | KCNQ1 | c.674C>T | p.Ser225Leu | Missense | 4/16 | - |
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 | - |
7-150672029-C-A | KCNH2 | c.77G>T | p.Ser26Ile | Missense | 2/15 | - |
7-150647290-C-G | KCNH2 | c.2364G>C | p.Glu788Asp | Missense | 9/15 | - |
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 | - |
11-2606470-A-G | KCNQ1 | c.1061A>G | p.Lys354Arg | Missense | 8/16 | - |
11-2606455-C-G | KCNQ1 | c.1046C>G | p.Ser349Trp | Missense | 8/16 | - |
11-2594208-T-A | KCNQ1 | c.913T>A | p.Trp305Arg | Missense | 6/16 | - |
11-2606460-T-C | KCNQ1 | c.1051T>C | p.Phe351Leu | Missense | 8/16 | - |
3-38608018-T-G | SCN5A | c.3722A>C | p.Tyr1241Ser | Missense | 21/28 | - |
11-2606462-T-A | KCNQ1 | c.1053T>A | p.Phe351Leu | Missense | 8/16 | - |
7-150648202-A-C | KCNH2 | c.1952T>G | p.Met651Arg | Missense | 8/15 | - |
7-150671802-C-G | KCNH2 | c.304G>C | p.Asp102His | Missense | 2/15 | - |
11-2594079-C-G | KCNQ1 | c.784C>G | p.Leu262Val | Missense | 6/16 | - |
3-38640463-C-T | SCN5A | c.1969G>A | p.Gly657Arg | Missense | 13/28 | - |
11-2608855-A-C | KCNQ1 | c.1184A>C | p.Tyr395Ser | Missense | 9/16 | - |
7-150646129-C-A | KCNH2 | c.2407G>T | p.Asp803Tyr | Missense | 10/15 | - |
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 | - |
7-150648634-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 | - |
11-2604717-G-A | KCNQ1 | c.974G>A | p.Gly325Glu | Missense | 7/16 | - |
7-150648785-A-T | KCNH2 | c.1696T>A | p.Cys566Ser | Missense | 7/15 | - |
11-2606462-T-G | KCNQ1 | c.1053T>G | p.Phe351Leu | Missense | 8/16 | - |
3-38651362-A-G | SCN5A | c.797T>C | p.Leu266Pro | Missense | 7/28 | - |
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 | - |
3-38639233-T-C | SCN5A | c.2249A>G | p.Gln750Arg | Missense | 14/28 | - |
3-38592582-G-A | SCN5A | c.5281C>T | p.Leu1761Phe | Missense | 28/28 | - |
11-2606505-C-T | KCNQ1 | c.1096C>T | p.Arg366Trp | Missense | 8/16 | - |
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 | - |
7-150671813-A-G | KCNH2 | c.293T>C | p.Phe98Ser | Missense | 2/15 | - |
7-150646059-G-A | KCNH2 | c.2477C>T | p.Thr826Ile | Missense | 10/15 | - |
3-38595903-C-G | SCN5A | c.4680G>C | p.Leu1560Phe | Missense | 27/28 | - |
11-2798232-G-A | KCNQ1 | c.1702G>A | p.Gly568Arg | Missense | 14/16 | - |
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 | - |
7-150646122-A-C | KCNH2 | c.2414T>G | p.Phe805Cys | Missense | 10/15 | - |
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 | - |
7-150671838-C-T | KCNH2 | c.268G>A | p.Glu90Lys | Missense | 2/15 | - |
11-2549168-G-A | KCNQ1 | c.397G>A | p.Val133Ile | Missense | 2/16 | - |
11-2591898-T-A | KCNQ1 | c.518T>A | p.Val173Asp | Missense | 3/16 | - |
11-2604689-G-A | KCNQ1 | c.946G>A | p.Gly316Arg | Missense | 7/16 | - |
7-150671900-A-G | KCNH2 | c.206T>C | p.Leu69Pro | Missense | 2/15 | - |
11-2466709-C-A | KCNQ1 | c.381C>A | p.Phe127Leu | Missense | 1/16 | - |
11-2591964-G-C | KCNQ1 | c.584G>C | p.Arg195Pro | Missense | 3/16 | - |
7-150671934-C-T | KCNH2 | c.172G>A | p.Glu58Lys | Missense | 2/15 | - |
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 | - |
7-150646119-C-T | KCNH2 | c.2417G>A | p.Gly806Glu | Missense | 10/15 | - |
7-150648651-C-A | KCNH2 | c.1830G>T | p.Lys610Asn | Missense | 7/15 | - |
11-2591952-T-C | KCNQ1 | c.572T>C | p.Leu191Pro | Missense | 3/16 | - |
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 | - |
7-150648650-A-G | KCNH2 | c.1831T>C | p.Tyr611His | Missense | 7/15 | - |
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 | - |
7-150648010-G-A | KCNH2 | c.2144C>T | p.Ala715Val | Missense | 8/15 | - |
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 | - |
7-150671852-G-A | KCNH2 | c.254C>T | p.Ala85Val | Missense | 2/15 | - |
7-150648570-C-A | KCNH2 | c.1911G>T | p.Glu637Asp | Missense | 7/15 | - |
11-2608845-T-C | KCNQ1 | c.1174T>C | p.Trp392Arg | Missense | 9/16 | - |
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 | - |
11-2604678-C-T | KCNQ1 | c.935C>T | p.Thr312Ile | Missense | 7/16 | - |
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 | - |
11-2591955-G-C | KCNQ1 | c.575G>C | p.Arg192Pro | Missense | 3/16 | - |
7-150648595-T-G | KCNH2 | c.1886A>C | p.Asn629Thr | Missense | 7/15 | - |
7-150648584-T-C | KCNH2 | c.1897A>G | p.Asn633Asp | Missense | 7/15 | - |
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 | - |
3-38671853-A-G | SCN5A | c.341T>C | p.Leu114Pro | Missense | 3/28 | - |
7-150648800-C-T | KCNH2 | c.1681G>A | p.Ala561Thr | Missense | 7/15 | - |
7-150648100-C-T | KCNH2 | c.2054G>A | p.Arg685His | Missense | 8/15 | - |
11-2594077-A-T | KCNQ1 | c.782A>T | p.Glu261Val | Missense | 6/16 | - |
7-150648800-C-G | KCNH2 | c.1681G>C | p.Ala561Pro | Missense | 7/15 | - |
3-38592393-G-C | SCN5A | c.5470C>G | p.Pro1824Ala | Missense | 28/28 | - |
11-2549207-G-A | KCNQ1 | c.436G>A | p.Glu146Lys | Missense | 2/16 | - |
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 | - |
7-150648712-C-A | KCNH2 | c.1769G>T | p.Gly590Val | Missense | 7/15 | - |
7-150671810-T-G | KCNH2 | c.296A>C | p.Tyr99Ser | Missense | 2/15 | - |
11-2797262-C-A | KCNQ1 | c.1663C>A | p.Arg555Ser | Missense | 13/16 | - |
11-2797262-C-T | KCNQ1 | c.1663C>T | p.Arg555Cys | Missense | 13/16 | - |
7-150648551-C-A | KCNH2 | c.1930G>T | p.Val644Phe | Missense | 7/15 | - |
7-150648695-G-C | KCNH2 | c.1786C>G | p.Pro596Ala | Missense | 7/15 | - |
7-150671913-T-G | KCNH2 | c.193A>C | p.Thr65Pro | Missense | 2/15 | - |
7-150648695-G-A | KCNH2 | c.1786C>T | p.Pro596Ser | Missense | 7/15 | - |
11-2593275-T-C | KCNQ1 | c.716T>C | p.Leu239Pro | Missense | 5/16 | - |
3-38597954-T-C | SCN5A | c.4415A>G | p.Asn1472Ser | Missense | 25/28 | - |
3-38647569-A-T | SCN5A | c.1211T>A | p.Leu404Gln | Missense | 10/28 | - |
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 | - |
7-150649704-C-A | KCNH2 | c.1366G>T | p.Asp456Tyr | Missense | 6/15 | - |
11-2790096-A-T | KCNQ1 | c.1537A>T | p.Thr513Ser | Missense | 12/16 | - |
11-2604669-C-T | KCNQ1 | c.926C>T | p.Thr309Ile | Missense | 7/16 | - |
3-38592563-T-C | SCN5A | c.5300A>G | p.Tyr1767Cys | Missense | 28/28 | - |
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 | - |
7-150656792-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 | - |
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 | - |
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 | - |
11-2591959-T-A | KCNQ1 | c.579T>A | p.Phe193Leu | Missense | 3/16 | - |
3-38627451-C-T | SCN5A | c.2518G>A | p.Gly840Arg | Missense | 16/28 | - |
11-2799229-A-G | KCNQ1 | c.1756A>G | p.Asn586Asp | Missense | 15/16 | - |
3-38592255-C-T | SCN5A | c.5608G>A | p.Ala1870Thr | Missense | 28/28 | - |
7-150648796-T-C | KCNH2 | c.1685A>G | p.His562Arg | Missense | 7/15 | - |
7-150674955-T-G | KCNH2 | c.47A>C | p.Asp16Ala | Missense | 1/15 | - |
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 | - |
7-150671885-G-C | KCNH2 | c.221C>G | p.Thr74Arg | Missense | 2/15 | - |
7-150648651-C-G | KCNH2 | c.1830G>C | p.Lys610Asn | Missense | 7/15 | - |
7-150646072-C-T | KCNH2 | c.2464G>A | p.Val822Met | Missense | 10/15 | - |
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 | - |
7-150648703-A-G | KCNH2 | c.1778T>C | p.Ile593Thr | Missense | 7/15 | - |
7-150648703-A-T | KCNH2 | c.1778T>A | p.Ile593Lys | Missense | 7/15 | - |
7-150648602-A-T | KCNH2 | c.1879T>A | p.Phe627Ile | Missense | 7/15 | - |
3-38601888-G-A | SCN5A | c.3995C>T | p.Pro1332Leu | Missense | 23/28 | - |
11-2799244-C-T | KCNQ1 | c.1771C>T | p.Arg591Cys | Missense | 15/16 | - |
11-2797242-G-A | KCNQ1 | c.1643G>A | p.Gly548Asp | Missense | 13/16 | - |
11-2594137-A-G | KCNQ1 | c.842A>G | p.Tyr281Cys | Missense | 6/16 | - |
7-150671868-C-G | KCNH2 | c.238G>C | p.Ala80Pro | Missense | 2/15 | - |
11-2466660-A-G | KCNQ1 | c.332A>G | p.Tyr111Cys | Missense | 1/16 | - |
11-2869085-G-C | KCNQ1 | c.1883G>C | p.Gly628Ala | Missense | 16/16 | - |
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 | - |
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 | - |
11-2797280-A-G | KCNQ1 | c.1681A>G | p.Arg561Gly | Missense | 13/16 | - |
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 | - |
11-2604669-C-G | KCNQ1 | c.926C>G | p.Thr309Arg | Missense | 7/16 | - |
3-38646330-T-C | SCN5A | c.1408A>G | p.Asn470Asp | Missense | 11/28 | - |
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 | - |
11-2592576-C-T | KCNQ1 | c.626C>T | p.Ser209Phe | Missense | 4/16 | - |
11-2606510-G-C | KCNQ1 | c.1101G>C | p.Gln367His | Missense | 8/16 | - |
11-2604677-A-T | KCNQ1 | c.934A>T | p.Thr312Ser | Missense | 7/16 | - |
11-2604690-G-A | KCNQ1 | c.947G>A | p.Gly316Glu | Missense | 7/16 | - |
3-38627442-T-C | SCN5A | c.2527A>G | p.Thr843Ala | Missense | 16/28 | - |
3-38601907-C-A | SCN5A | c.3976G>T | p.Ala1326Ser | Missense | 23/28 | - |
3-38601907-C-G | SCN5A | c.3976G>C | p.Ala1326Pro | Missense | 23/28 | - |
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 | - |
7-150646078-C-T | KCNH2 | c.2458G>A | p.Gly820Arg | Missense | 10/15 | - |
11-2604683-G-C | KCNQ1 | c.940G>C | p.Gly314Arg | Missense | 7/16 | - |
7-150647397-C-A | KCNH2 | c.2257G>T | p.Ala753Ser | Missense | 9/15 | - |
11-2591882-G-C | KCNQ1 | c.502G>C | p.Gly168Arg | Missense | 3/16 | - |
11-2604690-G-T | KCNQ1 | c.947G>T | p.Gly316Val | Missense | 7/16 | - |
11-2591946-G-A | KCNQ1 | c.566G>A | p.Gly189Glu | Missense | 3/16 | - |
11-2869084-G-A | KCNQ1 | c.1882G>A | p.Gly628Ser | Missense | 16/16 | - |
7-150648889-C-T | KCNH2 | c.1592G>A | p.Arg531Gln | Missense | 7/15 | - |
7-150646072-C-A | KCNH2 | c.2464G>T | p.Val822Leu | Missense | 10/15 | - |
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 | - |
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 | - |
3-38595903-C-A | SCN5A | c.4680G>T | p.Leu1560Phe | Missense | 27/28 | - |
3-38662377-G-A | SCN5A | c.568C>T | p.Arg190Trp | Missense | 5/28 | - |
11-2799241-G-A | KCNQ1 | c.1768G>A | p.Ala590Thr | Missense | 15/16 | - |
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 | - |
11-2797260-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 | - |
7-150648719-T-C | KCNH2 | c.1762A>G | p.Asn588Asp | Missense | 7/15 | - |
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 | - |
11-2799233-C-G | KCNQ1 | c.1760C>G | p.Thr587Arg | Missense | 15/16 | - |
11-2790133-C-T | KCNQ1 | c.1574C>T | p.Ala525Val | Missense | 12/16 | - |
7-150646070-CAC-ATC | KCNH2 | c.2464_2466delGTGinsATC | p.Val822Ile | Missense | 10/15 | - |
3-38592932-C-T | SCN5A | c.4931G>A | p.Arg1644His | Missense | 28/28 | - |
7-150648186-G-T | KCNH2 | c.1968C>A | p.Phe656Leu | Missense | 8/15 | - |
7-150648186-G-C | KCNH2 | c.1968C>G | p.Phe656Leu | Missense | 8/15 | - |
7-150671973-T-A | KCNH2 | c.133A>T | p.Asn45Tyr | Missense | 2/15 | - |
7-150648640-G-A | KCNH2 | c.1841C>T | p.Ala614Val | Missense | 7/15 | - |
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 | - |
7-150649631-T-A | KCNH2 | c.1439A>T | p.Glu480Val | Missense | 6/15 | - |
11-2592560-A-T | KCNQ1 | c.610A>T | p.Ile204Phe | Missense | 4/16 | - |
7-150671948-C-A | KCNH2 | c.158G>T | p.Gly53Val | Missense | 2/15 | - |
11-2594076-G-C | KCNQ1 | c.781G>C | p.Glu261Gln | Missense | 6/16 | - |
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 | - |
3-38601898-C-T | SCN5A | c.3985G>A | p.Gly1329Ser | Missense | 23/28 | - |
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 | - |
3-38592543-T-C | SCN5A | c.5320A>G | p.Asn1774Asp | Missense | 28/28 | - |
11-2591945-G-C | KCNQ1 | c.565G>C | p.Gly189Arg | Missense | 3/16 | - |
7-150649785-C-G | KCNH2 | c.1285G>C | p.Ala429Pro | Missense | 6/15 | - |
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 | - |
7-150648768-G-C | KCNH2 | c.1713C>G | p.Ile571Met | Missense | 7/15 | - |
3-38592627-C-T | SCN5A | c.5236G>A | p.Ala1746Thr | Missense | 28/28 | - |
3-38674719-C-G | SCN5A | c.80G>C | p.Arg27Pro | Missense | 2/28 | - |
7-150648570-C-G | KCNH2 | c.1911G>C | p.Glu637Asp | Missense | 7/15 | - |
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 | - |
3-38595953-T-G | SCN5A | c.4630A>C | p.Thr1544Pro | Missense | 27/28 | - |
7-150671921-C-T | KCNH2 | c.185G>A | p.Arg62Gln | Missense | 2/15 | - |
11-2790097-C-G | KCNQ1 | c.1538C>G | p.Thr513Ser | Missense | 12/16 | - |
7-150648694-G-T | KCNH2 | c.1787C>A | p.Pro596His | Missense | 7/15 | - |
7-150649811-T-C | KCNH2 | c.1259A>G | p.Tyr420Cys | Missense | 6/15 | - |
3-38651452-A-G | SCN5A | c.707T>C | p.Leu236Pro | Missense | 7/28 | - |
3-38651452-A-C | SCN5A | c.707T>G | p.Leu236Arg | Missense | 7/28 | - |
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 | - |
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 | - |
7-150656814-G-C | KCNH2 | c.318C>G | p.Phe106Leu | Missense | 3/15 | - |
11-2593251-G-A | KCNQ1 | c.692G>A | p.Arg231His | Missense | 5/16 | - |
11-2594119-T-C | KCNQ1 | c.824T>C | p.Phe275Ser | Missense | 6/16 | - |
7-150674964-G-T | KCNH2 | c.38C>A | p.Thr13Asn | Missense | 1/15 | - |
7-150646089-C-A | KCNH2 | c.2447G>T | p.Gly816Val | Missense | 10/15 | - |
7-150648757-T-C | KCNH2 | c.1724A>G | p.Glu575Gly | Missense | 7/15 | - |
7-150646077-C-T | KCNH2 | c.2459G>A | p.Gly820Glu | Missense | 10/15 | - |
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-G | SCN5A | c.532G>C | p.Ala178Pro | Missense | 5/28 | - |
7-150648647-C-A | KCNH2 | c.1834G>T | p.Val612Leu | Missense | 7/15 | - |
3-38662413-C-T | SCN5A | c.532G>A | p.Ala178Thr | Missense | 5/28 | - |
7-150674944-G-C | KCNH2 | c.58C>G | p.Arg20Gly | Missense | 1/15 | - |
7-150647290-C-A | KCNH2 | c.2364G>T | p.Glu788Asp | Missense | 9/15 | - |
11-2799233-C-T | KCNQ1 | c.1760C>T | p.Thr587Met | Missense | 15/16 | - |
7-150649649-G-A | KCNH2 | c.1421C>T | p.Thr474Ile | Missense | 6/15 | - |
11-2604763-T-G | KCNQ1 | c.1020T>G | p.Phe340Leu | Missense | 7/16 | - |
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 | - |
3-38592561-T-C | SCN5A | c.5302A>G | p.Ile1768Val | Missense | 28/28 | - |
7-150646078-C-G | KCNH2 | c.2458G>C | p.Gly820Arg | Missense | 10/15 | - |
7-150671972-T-C | KCNH2 | c.134A>G | p.Asn45Ser | Missense | 2/15 | - |
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 | - |
7-150648906-C-A | KCNH2 | c.1575G>T | p.Lys525Asn | Missense | 7/15 | - |
11-2591967-A-C | KCNQ1 | c.587A>C | p.Lys196Thr | Missense | 3/16 | - |
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 | - |
11-2869033-G-T | KCNQ1 | c.1831G>T | p.Asp611Tyr | Missense | 16/16 | - |
11-2592621-C-T | KCNQ1 | c.671C>T | p.Thr224Met | Missense | 4/16 | - |
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 | - |
11-2466639-C-T | KCNQ1 | c.311C>T | p.Thr104Ile | Missense | 1/16 | - |
11-2549165-A-C | KCNQ1 | c.394A>C | p.Ile132Leu | Missense | 2/16 | - |
3-38647555-G-C | SCN5A | c.1225C>G | p.Leu409Val | Missense | 10/28 | - |
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 | - |
11-2604689-G-C | KCNQ1 | c.946G>C | p.Gly316Arg | Missense | 7/16 | - |
11-2549178-G-T | KCNQ1 | c.407G>T | p.Cys136Phe | Missense | 2/16 | - |
11-2593332-A-C | KCNQ1 | c.773A>C | p.His258Pro | Missense | 5/16 | - |
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 | - |
11-2797284-G-T | KCNQ1 | c.1685G>T | p.Arg562Met | Missense | 13/16 | - |
7-150647300-C-G | KCNH2 | c.2354G>C | p.Gly785Ala | Missense | 9/15 | - |
7-150647300-C-T | KCNH2 | c.2354G>A | p.Gly785Asp | Missense | 9/15 | - |
7-150647300-C-A | KCNH2 | c.2354G>T | p.Gly785Val | Missense | 9/15 | - |
11-2604692-G-A | KCNQ1 | c.949G>A | p.Asp317Asn | Missense | 7/16 | - |
11-2594100-G-A | KCNQ1 | c.805G>A | p.Gly269Ser | Missense | 6/16 | - |
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 | - |
7-150648571-T-C | KCNH2 | c.1910A>G | p.Glu637Gly | Missense | 7/15 | - |
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 | - |
11-2799230-A-G | KCNQ1 | c.1757A>G | p.Asn586Ser | Missense | 15/16 | - |
7-150656814-G-T | KCNH2 | c.318C>A | p.Phe106Leu | Missense | 3/15 | - |
7-150648629-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 | - |
11-2594112-C-T | KCNQ1 | c.817C>T | p.Leu273Phe | Missense | 6/16 | - |
7-150648632-A-G | KCNH2 | c.1849T>C | p.Phe617Leu | Missense | 7/15 | - |
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 | - |
3-38597247-C-T | SCN5A | c.4442G>A | p.Gly1481Glu | Missense | 26/28 | - |
7-150648169-A-G | KCNH2 | c.1985T>C | p.Ile662Thr | Missense | 8/15 | - |
7-150672019-G-T | KCNH2 | c.87C>A | p.Phe29Leu | Missense | 2/15 | - |
3-38647554-A-G | SCN5A | c.1226T>C | p.Leu409Pro | Missense | 10/28 | - |
7-150647399-C-T | KCNH2 | c.2255G>A | p.Arg752Gln | Missense | 9/15 | - |
11-2549241-T-G | KCNQ1 | c.470T>G | p.Phe157Cys | Missense | 2/16 | - |
3-38595794-C-T | SCN5A | c.4789G>A | p.Val1597Met | Missense | 27/28 | - |
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 | - |
3-38592908-A-C | SCN5A | c.4955T>G | p.Met1652Arg | Missense | 28/28 | - |
7-150649793-G-T | KCNH2 | c.1277C>A | p.Pro426His | Missense | 6/15 | - |
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 | - |
11-2869078-G-A | KCNQ1 | c.1876G>A | p.Gly626Ser | Missense | 16/16 | - |
7-150671819-A-G | KCNH2 | c.287T>C | p.Ile96Thr | Missense | 2/15 | - |
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 | - |
3-38592494-T-C | SCN5A | c.5369A>G | p.Asp1790Gly | Missense | 28/28 | - |
7-150671939-C-T | KCNH2 | c.167G>A | p.Arg56Gln | Missense | 2/15 | - |
7-150671948-C-T | KCNH2 | c.158G>A | p.Gly53Asp | Missense | 2/15 | - |
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 | - |
11-2549191-C-G | KCNQ1 | c.420C>G | p.Ser140Arg | Missense | 2/16 | - |
7-150648671-C-T | KCNH2 | c.1810G>A | p.Gly604Ser | Missense | 7/15 | - |
7-150671805-T-C | KCNH2 | c.301A>G | p.Lys101Glu | Missense | 2/15 | - |
7-150672024-T-C | KCNH2 | c.82A>G | p.Lys28Glu | 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 | - |
11-2591906-T-C | KCNQ1 | c.526T>C | p.Trp176Arg | Missense | 3/16 | - |
7-150648613-G-A | KCNH2 | c.1868C>T | p.Thr623Ile | Missense | 7/15 | - |
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 | - |
11-2593311-T-C | KCNQ1 | c.752T>C | p.Leu251Pro | Missense | 5/16 | - |
7-150648592-A-G | KCNH2 | c.1889T>C | p.Val630Ala | Missense | 7/15 | - |
11-2593311-T-A | KCNQ1 | c.752T>A | p.Leu251Gln | Missense | 5/16 | - |
3-38592479-T-C | SCN5A | c.5384A>G | p.Tyr1795Cys | Missense | 28/28 | - |
7-150648725-G-T | KCNH2 | c.1756C>A | p.Leu586Met | Missense | 7/15 | - |
11-2594113-T-G | KCNQ1 | c.818T>G | p.Leu273Arg | Missense | 6/16 | - |
11-2799245-G-T | KCNQ1 | c.1772G>T | p.Arg591Leu | Missense | 15/16 | - |
11-2591957-T-C | KCNQ1 | c.577T>C | p.Phe193Leu | Missense | 3/16 | - |
7-150671949-C-G | KCNH2 | c.157G>C | p.Gly53Arg | Missense | 2/15 | - |
3-38647627-C-T | SCN5A | c.1153G>A | p.Ala385Thr | Missense | 10/28 | - |
11-2594140-T-C | KCNQ1 | c.845T>C | p.Leu282Pro | Missense | 6/16 | - |
11-2606506-G-A | KCNQ1 | c.1097G>A | p.Arg366Gln | Missense | 8/16 | - |
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-G | KCNH2 | c.1714G>C | p.Gly572Arg | Missense | 7/15 | - |
7-150648767-C-A | KCNH2 | c.1714G>T | p.Gly572Cys | Missense | 7/15 | - |
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 | - |
11-2608811-G-T | KCNQ1 | c.1140G>T | p.Arg380Ser | Missense | 9/16 | - |
11-2604771-C-G | KCNQ1 | c.1028C>G | p.Pro343Arg | Missense | 7/16 | - |
8-81897603-T-C | PAG1 | c.284A>G | p.Glu95Gly | Missense | 7/9 | - |
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 | - |
3-38647562-G-T | SCN5A | c.1218C>A | p.Asn406Lys | Missense | 10/28 | - |
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 | - |
3-38674585-G-T | SCN5A | c.214C>A | p.Pro72Thr | Missense | 2/28 | - |
3-38655263-C-G | SCN5A | c.674G>C | p.Arg225Pro | Missense | 6/28 | - |
7-150671874-C-T | KCNH2 | c.232G>A | p.Ala78Thr | Missense | 2/15 | - |
3-38592915-G-A | SCN5A | c.4948C>T | p.Leu1650Phe | Missense | 28/28 | - |
11-2606494-A-G | KCNQ1 | c.1085A>G | p.Lys362Arg | Missense | 8/16 | - |
7-150648580-G-A | KCNH2 | c.1901C>T | p.Thr634Ile | Missense | 7/15 | - |
11-2798230-T-C | KCNQ1 | c.1700T>C | p.Ile567Thr | Missense | 14/16 | - |
11-2798230-T-G | KCNQ1 | c.1700T>G | p.Ile567Ser | Missense | 14/16 | - |
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 | - |
7-150649841-C-G | KCNH2 | c.1229G>C | p.Trp410Ser | Missense | 6/15 | - |
11-2594125-C-T | KCNQ1 | c.830C>T | p.Ser277Leu | Missense | 6/16 | - |
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 | - |
7-150671801-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 | - |
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 | - |
3-38592567-T-G | SCN5A | c.5296A>C | p.Met1766Leu | Missense | 28/28 | - |
7-150672008-T-G | KCNH2 | c.98A>C | p.Asn33Thr | Missense | 2/15 | - |
3-38592567-T-C | SCN5A | c.5296A>G | p.Met1766Val | Missense | 28/28 | - |
11-2549172-T-C | KCNQ1 | c.401T>C | p.Leu134Pro | Missense | 2/16 | - |
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 | - |
7-150648567-C-G | KCNH2 | c.1914G>C | p.Lys638Asn | Missense | 7/15 | - |
7-150648567-C-A | KCNH2 | c.1914G>T | p.Lys638Asn | Missense | 7/15 | - |
3-38648269-G-A | SCN5A | c.1031C>T | p.Ala344Val | Missense | 9/28 | - |
3-38648266-C-G | SCN5A | c.1034G>C | p.Gly345Ala | Missense | 9/28 | - |
3-38592283-C-A | SCN5A | c.5580G>T | p.Arg1860Ser | Missense | 28/28 | - |
3-38592283-C-G | SCN5A | c.5580G>C | p.Arg1860Ser | Missense | 28/28 | - |
7-150672003-G-A | KCNH2 | c.103C>T | p.Arg35Trp | Missense | 2/15 | - |
7-150648794-A-C | KCNH2 | c.1687T>G | p.Trp563Gly | Missense | 7/15 | - |
7-150648632-A-C | KCNH2 | c.1849T>G | p.Phe617Val | Missense | 7/15 | - |
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 | - |
11-2797275-TG-AT | KCNQ1 | c.1676_1677delTGinsAT | p.Leu559His | Missense | 13/16 | - |
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 | - |
3-38592926-A-C | SCN5A | c.4937T>G | p.Leu1646Arg | Missense | 28/28 | - |
11-2591900-C-T | KCNQ1 | c.520C>T | p.Arg174Cys | Missense | 3/16 | - |
3-38627451-C-G | SCN5A | c.2518G>C | p.Gly840Arg | Missense | 16/28 | - |
3-38645343-C-T | SCN5A | c.1750G>A | p.Gly584Ser | Missense | 12/28 | - |
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 | - |
3-38601909-T-C | SCN5A | c.3974A>G | p.Asn1325Ser | Missense | 23/28 | - |
11-2798227-C-T | KCNQ1 | c.1697C>T | p.Ser566Phe | Missense | 14/16 | - |
7-150671960-C-T | KCNH2 | c.146G>A | p.Cys49Tyr | Missense | 2/15 | - |
7-150649700-A-G | KCNH2 | c.1370T>C | p.Leu457Pro | Missense | 6/15 | - |
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 | - |
11-2604697-G-C | KCNQ1 | c.954G>C | p.Lys318Asn | Missense | 7/16 | - |
3-38595802-A-G | SCN5A | c.4781T>C | p.Phe1594Ser | Missense | 27/28 | - |
21-35742806-C-T | KCNE2 | c.29C>T | p.Thr10Met | Missense | 2/2 | - |
11-2593303-G-T | KCNQ1 | c.744G>T | p.Trp248Cys | Missense | 5/16 | - |
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 | - |
11-2604671-G-A | KCNQ1 | c.928G>A | p.Val310Ile | Missense | 7/16 | - |
11-2593319-G-T | KCNQ1 | c.760G>T | p.Val254Leu | Missense | 5/16 | - |
11-2591984-G-C | KCNQ1 | c.604G>C | p.Asp202His | Missense | 3/16 | - |
11-2604682-C-G | KCNQ1 | c.939C>G | p.Ile313Met | Missense | 7/16 | - |
7-150648187-A-C | KCNH2 | c.1967T>G | p.Phe656Cys | Missense | 8/15 | - |
11-2797214-C-T | KCNQ1 | c.1615C>T | p.Arg539Trp | Missense | 13/16 | - |
7-150656761-A-G | KCNH2 | c.371T>C | p.Met124Thr | Missense | 3/15 | - |
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 | - |
11-2797226-G-A | KCNQ1 | c.1627G>A | p.Glu543Lys | Missense | 13/16 | - |
11-2591969-C-T | KCNQ1 | c.589C>T | p.Pro197Ser | Missense | 3/16 | - |
7-150671937-C-G | KCNH2 | c.169G>C | p.Ala57Pro | Missense | 2/15 | - |
7-150648628-G-C | KCNH2 | c.1853C>G | p.Thr618Ser | Missense | 7/15 | - |
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 | - |
7-150649646-T-C | KCNH2 | c.1424A>G | p.Tyr475Cys | Missense | 6/15 | - |
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 | - |
7-150645954-T-A | KCNH2 | c.2582A>T | p.Asn861Ile | Missense | 10/15 | - |
3-38651409-CA-AT | SCN5A | c.749_750delTGinsAT | p.Leu250His | Missense | 7/28 | - |
3-38627234-T-C | SCN5A | c.2735A>G | p.Gln912Arg | Missense | 16/28 | - |
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 | - |
7-150648576-G-T | KCNH2 | c.1905C>A | p.Asn635Lys | Missense | 7/15 | - |
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 | - |
7-150648917-C-T | KCNH2 | c.1564G>A | p.Gly522Arg | Missense | 7/15 | - |
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-G | KCNH2 | c.1564G>C | p.Gly522Arg | Missense | 7/15 | - |
3-38655260-G-A | SCN5A | c.677C>T | p.Ala226Val | Missense | 6/28 | - |
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 | - |
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 | - |
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 | - |
3-38592549-G-C | SCN5A | c.5314C>G | p.Leu1772Val | Missense | 28/28 | - |
11-2606454-T-C | KCNQ1 | c.1045T>C | p.Ser349Pro | Missense | 8/16 | - |
3-38628924-C-G | SCN5A | c.2403G>C | p.Met801Ile | Missense | 15/28 | - |
11-2798218-T-C | KCNQ1 | c.1688T>C | p.Leu563Pro | Missense | 14/16 | - |
11-2549229-C-T | KCNQ1 | c.458C>T | p.Thr153Met | Missense | 2/16 | - |
7-150648619-C-T | KCNH2 | c.1862G>A | p.Ser621Asn | Missense | 7/15 | - |
11-2594142-G-A | KCNQ1 | c.847G>A | p.Ala283Thr | Missense | 6/16 | - |
7-150649791-A-G | KCNH2 | c.1279T>C | p.Tyr427His | Missense | 6/15 | - |
11-2549191-C-A | KCNQ1 | c.420C>A | p.Ser140Arg | Missense | 2/16 | - |
7-150648799-G-A | KCNH2 | c.1682C>T | p.Ala561Val | Missense | 7/15 | - |
7-150671897-T-C | KCNH2 | c.209A>G | p.His70Arg | Missense | 2/15 | - |
7-150648583-T-C | KCNH2 | c.1898A>G | p.Asn633Ser | Missense | 7/15 | - |
7-150648698-T-C | KCNH2 | c.1783A>G | p.Lys595Glu | Missense | 7/15 | - |
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 | - |
7-150648583-T-A | KCNH2 | c.1898A>T | p.Asn633Ile | Missense | 7/15 | - |
7-150646027-C-T | KCNH2 | c.2509G>A | p.Asp837Asn | Missense | 10/15 | - |
11-2591931-A-C | KCNQ1 | c.551A>C | p.Tyr184Ser | Missense | 3/16 | - |
7-150649681-G-C | KCNH2 | c.1389C>G | p.Phe463Leu | Missense | 6/15 | - |
7-150671904-A-G | KCNH2 | c.202T>C | p.Phe68Leu | Missense | 2/15 | - |
7-150656800-T-A | KCNH2 | c.332A>T | p.Asp111Val | Missense | 3/15 | - |
11-2591930-T-C | KCNQ1 | c.550T>C | p.Tyr184His | Missense | 3/16 | - |
3-38639290-G-A | SCN5A | c.2192C>T | p.Thr731Ile | Missense | 14/28 | - |
7-150646137-C-T | KCNH2 | c.2399G>A | p.Gly800Glu | Missense | 10/15 | - |
3-38597942-T-C | SCN5A | c.4427A>G | p.Gln1476Arg | Missense | 25/28 | - |
3-38592576-C-G | SCN5A | c.5287G>C | p.Val1763Leu | Missense | 28/28 | - |
3-38592576-C-A | SCN5A | c.5287G>T | p.Val1763Leu | Missense | 28/28 | - |
11-2594110-G-T | KCNQ1 | c.815G>T | p.Gly272Val | Missense | 6/16 | - |
7-150648766-C-T | KCNH2 | c.1715G>A | p.Gly572Asp | Missense | 7/15 | - |
7-150648766-C-A | KCNH2 | c.1715G>T | p.Gly572Val | 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 | - |
3-38592908-A-G | SCN5A | c.4955T>C | p.Met1652Thr | Missense | 28/28 | - |
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 | - |
7-150671840-G-A | KCNH2 | c.266C>T | p.Ala89Val | Missense | 2/15 | - |
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 | - |
7-150649681-G-T | KCNH2 | c.1389C>A | p.Phe463Leu | Missense | 6/15 | - |
11-2591889-A-G | KCNQ1 | c.509A>G | p.Glu170Gly | Missense | 3/16 | - |
3-38627469-T-C | SCN5A | c.2500A>G | p.Asn834Asp | Missense | 16/28 | - |
7-150646069-G-A | KCNH2 | c.2467C>T | p.Arg823Trp | Missense | 10/15 | - |
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 | - |
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 | - |
11-2591945-G-A | KCNQ1 | c.565G>A | p.Gly189Arg | Missense | 3/16 | - |
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 | - |
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 | - |
11-2604765-C-T | KCNQ1 | c.1022C>T | p.Ala341Val | Missense | 7/16 | - |
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 | - |
11-2593250-C-T | KCNQ1 | c.691C>T | p.Arg231Cys | Missense | 5/16 | - |
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 | - |
7-150646000-G-T | KCNH2 | c.2536C>A | p.Pro846Thr | Missense | 10/15 | - |
7-150648572-C-T | KCNH2 | c.1909G>A | p.Glu637Lys | Missense | 7/15 | - |
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 | - |
11-2593245-G-A | KCNQ1 | c.686G>A | p.Gly229Asp | Missense | 5/16 | - |
11-2594200-C-T | KCNQ1 | c.905C>T | p.Ala302Val | Missense | 6/16 | - |
3-38647549-C-T | SCN5A | c.1231G>A | p.Val411Met | Missense | 10/28 | - |
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 | - |
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 | - |
7-150648620-T-G | KCNH2 | c.1861A>C | p.Ser621Arg | Missense | 7/15 | - |
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 | - |
3-38662392-C-T | SCN5A | c.553G>A | p.Ala185Thr | Missense | 5/28 | - |
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 | - |
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 | - |
3-38648267-C-G | SCN5A | c.1033G>C | p.Gly345Arg | Missense | 9/28 | - |
7-150647423-C-G | KCNH2 | c.2231G>C | p.Arg744Pro | Missense | 9/15 | - |
7-150646083-G-C | KCNH2 | c.2453C>G | p.Ser818Trp | Missense | 10/15 | - |
11-2466701-T-G | KCNQ1 | c.373T>G | p.Tyr125Asp | Missense | 1/16 | - |
11-2466649-G-T | KCNQ1 | c.321G>T | p.Gln107His | Missense | 1/16 | - |
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 | - |
7-150647400-G-A | KCNH2 | c.2254C>T | p.Arg752Trp | Missense | 9/15 | - |