ClinVar Miner

List of variants studied for Brugada syndrome 8 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 605
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HGVS dbSNP
NC_000015.10:g.(?_72353681)_(73368280_?)dup
NC_000015.9:g.(?_73614812)_(73660621_?)dup
NM_005477.3(HCN4):c.1005G>A (p.Met335Ile) rs758797709
NM_005477.3(HCN4):c.1014G>C (p.Leu338=) rs147771899
NM_005477.3(HCN4):c.1023G>C (p.Trp341Cys) rs1555477308
NM_005477.3(HCN4):c.1027A>G (p.Met343Val)
NM_005477.3(HCN4):c.102G>A (p.Glu34=) rs764116333
NM_005477.3(HCN4):c.1054G>A (p.Val352Met)
NM_005477.3(HCN4):c.106G>C (p.Gly36Arg)
NM_005477.3(HCN4):c.1070T>A (p.Leu357His)
NM_005477.3(HCN4):c.1073T>C (p.Ile358Thr)
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu) rs143090627
NM_005477.3(HCN4):c.1087A>G (p.Ile363Val) rs144168042
NM_005477.3(HCN4):c.1089C>T (p.Ile363=) rs140902511
NM_005477.3(HCN4):c.1090G>A (p.Asp364Asn) rs151004999
NM_005477.3(HCN4):c.1094C>T (p.Ser365Leu)
NM_005477.3(HCN4):c.1095G>A (p.Ser365=)
NM_005477.3(HCN4):c.1103A>G (p.Tyr368Cys)
NM_005477.3(HCN4):c.1115G>A (p.Arg372Gln)
NM_005477.3(HCN4):c.1120C>T (p.Leu374=)
NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys) rs755356387
NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys) rs758468167
NM_005477.3(HCN4):c.1133G>A (p.Arg378His)
NM_005477.3(HCN4):c.1159C>G (p.Arg387Gly)
NM_005477.3(HCN4):c.1159C>T (p.Arg387Cys)
NM_005477.3(HCN4):c.1167dup (p.Arg390fs)
NM_005477.3(HCN4):c.1168C>T (p.Arg390Cys) rs918783630
NM_005477.3(HCN4):c.1178G>A (p.Arg393His) rs786205804
NM_005477.3(HCN4):c.1186C>A (p.Arg396=)
NM_005477.3(HCN4):c.1190A>C (p.Tyr397Ser)
NM_005477.3(HCN4):c.1191T>C (p.Tyr397=) rs142643511
NM_005477.3(HCN4):c.1209+4A>G
NM_005477.3(HCN4):c.1227C>T (p.Tyr409=) rs562792789
NM_005477.3(HCN4):c.1240G>A (p.Ala414Thr)
NM_005477.3(HCN4):c.1242C>T (p.Ala414=) rs376218786
NM_005477.3(HCN4):c.1243G>A (p.Val415Met) rs201978086
NM_005477.3(HCN4):c.1246G>T (p.Val416Leu)
NM_005477.3(HCN4):c.124G>C (p.Asp42His) rs752597565
NM_005477.3(HCN4):c.1254C>T (p.Ile418=) rs373794941
NM_005477.3(HCN4):c.1278C>G (p.Leu426=)
NM_005477.3(HCN4):c.128C>T (p.Pro43Leu) rs759329385
NM_005477.3(HCN4):c.1297G>A (p.Gly433Ser) rs573588965
NM_005477.3(HCN4):c.1303C>T (p.Leu435=) rs746461789
NM_005477.3(HCN4):c.1308G>A (p.Gln436=)
NM_005477.3(HCN4):c.1308G>T (p.Gln436His) rs1567777058
NM_005477.3(HCN4):c.130A>C (p.Ser44Arg)
NM_005477.3(HCN4):c.1338T>G (p.Pro446=) rs780604251
NM_005477.3(HCN4):c.1341C>T (p.Asp447=)
NM_005477.3(HCN4):c.1349G>C (p.Trp450Ser) rs1567776985
NM_005477.3(HCN4):c.134G>T (p.Arg45Leu) rs1416460262
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034
NM_005477.3(HCN4):c.1357A>G (p.Ile453Val)
NM_005477.3(HCN4):c.1371+8C>T rs199838832
NM_005477.3(HCN4):c.1371+9G>A rs200303699
NM_005477.3(HCN4):c.1402G>A (p.Ala468Thr) rs372632530
NM_005477.3(HCN4):c.1403C>T (p.Ala468Val)
NM_005477.3(HCN4):c.1404G>A (p.Ala468=)
NM_005477.3(HCN4):c.1407C>G (p.Leu469=)
NM_005477.3(HCN4):c.1418T>C (p.Met473Thr)
NM_005477.3(HCN4):c.1419G>A (p.Met473Ile) rs1060500105
NM_005477.3(HCN4):c.1424A>G (p.His475Arg)
NM_005477.3(HCN4):c.1437C>T (p.Ile479=) rs202001597
NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser)
NM_005477.3(HCN4):c.1439G>T (p.Gly480Val) rs1060500103
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His) rs1057519275
NM_005477.3(HCN4):c.1443C>T (p.Tyr481=) rs200337785
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) rs794727637
NM_005477.3(HCN4):c.1447C>T (p.Arg483Trp)
NM_005477.3(HCN4):c.1448G>A (p.Arg483Gln) rs998387579
NM_005477.3(HCN4):c.144C>T (p.Ile48=)
NM_005477.3(HCN4):c.1455G>A (p.Ala485=) rs148875639
NM_005477.3(HCN4):c.1458C>T (p.Pro486=) rs760102595
NM_005477.3(HCN4):c.1459G>A (p.Val487Met) rs202037304
NM_005477.3(HCN4):c.1467G>A (p.Met489Ile)
NM_005477.3(HCN4):c.1471G>A (p.Asp491Asn) rs1060500107
NM_005477.3(HCN4):c.1471G>C (p.Asp491His) rs1060500107
NM_005477.3(HCN4):c.1482C>T (p.Leu494=) rs1041707015
NM_005477.3(HCN4):c.1485C>A (p.Thr495=)
NM_005477.3(HCN4):c.1491C>T (p.Leu497=) rs1260804406
NM_005477.3(HCN4):c.1494C>G (p.Ser498Arg) rs1567774949
NM_005477.3(HCN4):c.1509C>T (p.Ala503=) rs1060503837
NM_005477.3(HCN4):c.1511C>A (p.Thr504Asn) rs1595822914
NM_005477.3(HCN4):c.1512C>T (p.Thr504=)
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=) rs139590882
NM_005477.3(HCN4):c.151C>T (p.Arg51Trp) rs1555479061
NM_005477.3(HCN4):c.152G>A (p.Arg51Gln)
NM_005477.3(HCN4):c.1536C>T (p.His512=) rs146306966
NM_005477.3(HCN4):c.1548C>T (p.Leu516=) rs1060503838
NM_005477.3(HCN4):c.1557C>T (p.Ser519=) rs1555475972
NM_005477.3(HCN4):c.1558C>T (p.Leu520=) rs12909882
NM_005477.3(HCN4):c.1560G>A (p.Leu520=) rs200033529
NM_005477.3(HCN4):c.1563C>T (p.Asp521=) rs201999732
NM_005477.3(HCN4):c.1570C>A (p.Arg524=) rs756855616
NM_005477.3(HCN4):c.1571G>A (p.Arg524Gln)
NM_005477.3(HCN4):c.1572G>T (p.Arg524=)
NM_005477.3(HCN4):c.1576C>G (p.Gln526Glu)
NM_005477.3(HCN4):c.157C>T (p.Leu53=) rs1595837657
NM_005477.3(HCN4):c.1590+10C>T
NM_005477.3(HCN4):c.1590+7C>G rs1595822862
NM_005477.3(HCN4):c.1590G>C (p.Lys530Asn) rs1555475961
NM_005477.3(HCN4):c.1591-7G>A
NM_005477.3(HCN4):c.1591-9C>T
NM_005477.3(HCN4):c.1593C>T (p.Tyr531=) rs958995249
NM_005477.3(HCN4):c.159G>A (p.Leu53=)
NM_005477.3(HCN4):c.1600G>A (p.Val534Met)
NM_005477.3(HCN4):c.1612A>G (p.Met538Val)
NM_005477.3(HCN4):c.1632G>A (p.Pro544=) rs544585089
NM_005477.3(HCN4):c.1635C>T (p.Pro545=) rs140015730
NM_005477.3(HCN4):c.1636G>A (p.Asp546Asn) rs370884239
NM_005477.3(HCN4):c.1642C>T (p.Arg548Trp)
NM_005477.3(HCN4):c.1653C>A (p.Ile551=) rs141966309
NM_005477.3(HCN4):c.1656C>T (p.His552=) rs148142070
NM_005477.3(HCN4):c.1661A>G (p.Tyr554Cys) rs767926374
NM_005477.3(HCN4):c.1665C>T (p.Tyr555=)
NM_005477.3(HCN4):c.1668G>A (p.Glu556=)
NM_005477.3(HCN4):c.1674C>A (p.Arg558=) rs201337528
NM_005477.3(HCN4):c.1683C>A (p.Gly561=) rs62641690
NM_005477.3(HCN4):c.1693G>A (p.Asp565Asn)
NM_005477.3(HCN4):c.1695C>T (p.Asp565=)
NM_005477.3(HCN4):c.1696G>A (p.Glu566Lys)
NM_005477.3(HCN4):c.1703G>C (p.Ser568Thr) rs138714806
NM_005477.3(HCN4):c.1704C>T (p.Ser568=)
NM_005477.3(HCN4):c.1713C>T (p.Gly571=)
NM_005477.3(HCN4):c.171C>A (p.Ser57=)
NM_005477.3(HCN4):c.1722C>T (p.Ser574=) rs750941501
NM_005477.3(HCN4):c.1728C>T (p.Pro576=)
NM_005477.3(HCN4):c.1729C>T (p.Leu577=) rs1057523463
NM_005477.3(HCN4):c.172C>T (p.Pro58Ser)
NM_005477.3(HCN4):c.1732C>T (p.Arg578Trp) rs752953709
NM_005477.3(HCN4):c.1738-5G>T
NM_005477.3(HCN4):c.1738-6C>T rs760763085
NM_005477.3(HCN4):c.1738-8T>C
NM_005477.3(HCN4):c.1748A>G (p.Asn583Ser)
NM_005477.3(HCN4):c.174C>A (p.Pro58=) rs920292438
NM_005477.3(HCN4):c.174C>T (p.Pro58=)
NM_005477.3(HCN4):c.1760G>A (p.Arg587Gln)
NM_005477.3(HCN4):c.1794T>C (p.Asn598=)
NM_005477.3(HCN4):c.1796C>T (p.Ala599Val)
NM_005477.3(HCN4):c.1797G>A (p.Ala599=) rs371484779
NM_005477.3(HCN4):c.17C>G (p.Pro6Arg)
NM_005477.3(HCN4):c.1815G>A (p.Thr605=) rs367753936
NM_005477.3(HCN4):c.1839C>T (p.Phe613=) rs117731813
NM_005477.3(HCN4):c.1840G>A (p.Glu614Lys) rs201319883
NM_005477.3(HCN4):c.1854T>C (p.Pro618=)
NM_005477.3(HCN4):c.185C>T (p.Ala62Val) rs1595837637
NM_005477.3(HCN4):c.186G>A (p.Ala62=)
NM_005477.3(HCN4):c.1870C>T (p.Arg624Trp) rs545156905
NM_005477.3(HCN4):c.1896G>A (p.Met632Ile) rs200737571
NM_005477.3(HCN4):c.18G>T (p.Pro6=) rs771607645
NM_005477.3(HCN4):c.1915G>A (p.Val639Met) rs563194186
NM_005477.3(HCN4):c.1924G>A (p.Val642Met) rs779402752
NM_005477.3(HCN4):c.1949C>G (p.Thr650Ser)
NM_005477.3(HCN4):c.1953G>A (p.Lys651=)
NM_005477.3(HCN4):c.1959C>T (p.Ala653=) rs371293769
NM_005477.3(HCN4):c.1962C>T (p.Asp654=)
NM_005477.3(HCN4):c.1966T>G (p.Ser656Ala)
NM_005477.3(HCN4):c.196G>A (p.Glu66Lys) rs786205803
NM_005477.3(HCN4):c.196G>C (p.Glu66Gln)
NM_005477.3(HCN4):c.1970A>G (p.Tyr657Cys)
NM_005477.3(HCN4):c.1971C>T (p.Tyr657=)
NM_005477.3(HCN4):c.1978+10C>G rs1595820799
NM_005477.3(HCN4):c.1978+3G>T rs113112855
NM_005477.3(HCN4):c.1987C>A (p.Leu663Met)
NM_005477.3(HCN4):c.198G>A (p.Glu66=) rs772890780
NM_005477.3(HCN4):c.1995_2009del (p.Arg666_Thr670del)
NM_005477.3(HCN4):c.1996C>T (p.Arg666Trp) rs199943122
NM_005477.3(HCN4):c.1997G>A (p.Arg666Gln)
NM_005477.3(HCN4):c.2003G>A (p.Arg668Gln) rs757268783
NM_005477.3(HCN4):c.2016C>T (p.Ser672=) rs104894488
NM_005477.3(HCN4):c.2025C>T (p.Ala675=) rs149033101
NM_005477.3(HCN4):c.2028C>A (p.Asp676Glu) rs1060500102
NM_005477.3(HCN4):c.2028C>T (p.Asp676=) rs1060500102
NM_005477.3(HCN4):c.202C>G (p.Arg68Gly)
NM_005477.3(HCN4):c.2033_2035del (p.Tyr678del)
NM_005477.3(HCN4):c.2036G>A (p.Cys679Tyr)
NM_005477.3(HCN4):c.2048C>T (p.Ser683Leu)
NM_005477.3(HCN4):c.2049G>A (p.Ser683=) rs1407849744
NM_005477.3(HCN4):c.2052G>A (p.Leu684=)
NM_005477.3(HCN4):c.2055C>T (p.Ser685=) rs886042819
NM_005477.3(HCN4):c.2056G>A (p.Val686Met) rs550848544
NM_005477.3(HCN4):c.2062A>G (p.Asn688Asp)
NM_005477.3(HCN4):c.2063A>G (p.Asn688Ser)
NM_005477.3(HCN4):c.2090C>T (p.Pro697Leu)
NM_005477.3(HCN4):c.209C>T (p.Ser70Leu) rs771533338
NM_005477.3(HCN4):c.2109C>T (p.Phe703=) rs150378994
NM_005477.3(HCN4):c.2112G>A (p.Glu704=) rs746156652
NM_005477.3(HCN4):c.2115C>G (p.Thr705=)
NM_005477.3(HCN4):c.2115C>T (p.Thr705=) rs201652877
NM_005477.3(HCN4):c.2121G>A (p.Ala707=) rs1354885005
NM_005477.3(HCN4):c.2137C>T (p.Arg713Cys) rs758371313
NM_005477.3(HCN4):c.2139C>A (p.Arg713=)
NM_005477.3(HCN4):c.2143+1G>A rs1555475434
NM_005477.3(HCN4):c.2143+5G>T rs547362030
NM_005477.3(HCN4):c.2151G>C (p.Lys717Asn)
NM_005477.3(HCN4):c.216C>G (p.Leu72=)
NM_005477.3(HCN4):c.2181C>T (p.His727=) rs140354126
NM_005477.3(HCN4):c.2182G>A (p.Asp728Asn) rs200468312
NM_005477.3(HCN4):c.2193C>T (p.Ser731=) rs373015590
NM_005477.3(HCN4):c.2194G>A (p.Gly732Ser) rs199530458
NM_005477.3(HCN4):c.2196C>T (p.Gly732=) rs780923169
NM_005477.3(HCN4):c.2197G>A (p.Val733Ile) rs376631391
NM_005477.3(HCN4):c.2198T>C (p.Val733Ala)
NM_005477.3(HCN4):c.2210A>G (p.Gln737Arg) rs146732972
NM_005477.3(HCN4):c.2216A>G (p.Asn739Ser)
NM_005477.3(HCN4):c.2235T>G (p.Ile745Met)
NM_005477.3(HCN4):c.2247C>T (p.Asp749=)
NM_005477.3(HCN4):c.2249G>A (p.Arg750Gln) rs774330689
NM_005477.3(HCN4):c.2260C>T (p.His754Tyr)
NM_005477.3(HCN4):c.2265C>T (p.Cys755=) rs959292495
NM_005477.3(HCN4):c.2266G>A (p.Ala756Thr) rs143339036
NM_005477.3(HCN4):c.2268G>A (p.Ala756=)
NM_005477.3(HCN4):c.2272C>T (p.Arg758Cys)
NM_005477.3(HCN4):c.2273G>A (p.Arg758His) rs373284500
NM_005477.3(HCN4):c.2274C>T (p.Arg758=) rs749766433
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689
NM_005477.3(HCN4):c.2283T>G (p.Ala761=)
NM_005477.3(HCN4):c.2288C>A (p.Ala763Asp)
NM_005477.3(HCN4):c.2288C>T (p.Ala763Val)
NM_005477.3(HCN4):c.228C>T (p.Asp76=)
NM_005477.3(HCN4):c.2294C>G (p.Ala765Gly) rs750833108
NM_005477.3(HCN4):c.2309C>T (p.Thr770Met)
NM_005477.3(HCN4):c.2310G>A (p.Thr770=)
NM_005477.3(HCN4):c.2313C>T (p.Pro771=) rs142298104
NM_005477.3(HCN4):c.2314G>C (p.Val772Leu)
NM_005477.3(HCN4):c.2317A>G (p.Ile773Val)
NM_005477.3(HCN4):c.231C>T (p.Ser77=)
NM_005477.3(HCN4):c.2326C>A (p.Pro776Thr) rs148714049
NM_005477.3(HCN4):c.2327C>T (p.Pro776Leu) rs1008825259
NM_005477.3(HCN4):c.2328G>A (p.Pro776=) rs1452483960
NM_005477.3(HCN4):c.2345T>G (p.Leu782Arg) rs1567769296
NM_005477.3(HCN4):c.2346G>T (p.Leu782=)
NM_005477.3(HCN4):c.2349G>A (p.Gln783=) rs746658574
NM_005477.3(HCN4):c.2350G>A (p.Ala784Thr)
NM_005477.3(HCN4):c.2355C>T (p.Ala785=)
NM_005477.3(HCN4):c.2356G>A (p.Ala786Thr) rs771516987
NM_005477.3(HCN4):c.2370T>C (p.Ser790=) rs747648596
NM_005477.3(HCN4):c.2374G>T (p.Ala792Ser)
NM_005477.3(HCN4):c.2377A>C (p.Ile793Leu) rs1302650781
NM_005477.3(HCN4):c.2382C>G (p.Ala794=) rs1399387925
NM_005477.3(HCN4):c.2383C>T (p.Leu795Phe) rs1435000428
NM_005477.3(HCN4):c.2385C>T (p.Leu795=) rs878854773
NM_005477.3(HCN4):c.2398C>A (p.Arg800Ser)
NM_005477.3(HCN4):c.2398C>T (p.Arg800Cys) rs181894662
NM_005477.3(HCN4):c.2399G>A (p.Arg800His) rs375180021
NM_005477.3(HCN4):c.2399G>T (p.Arg800Leu) rs375180021
NM_005477.3(HCN4):c.2401C>T (p.Leu801=) rs898537235
NM_005477.3(HCN4):c.2409T>G (p.Ala803=)
NM_005477.3(HCN4):c.240G>C (p.Pro80=) rs747646946
NM_005477.3(HCN4):c.2419C>T (p.Arg807Cys) rs758427944
NM_005477.3(HCN4):c.2420G>A (p.Arg807His) rs200395062
NM_005477.3(HCN4):c.2432G>T (p.Gly811Val)
NM_005477.3(HCN4):c.2437G>A (p.Gly813Arg)
NM_005477.3(HCN4):c.2451C>T (p.Leu817=)
NM_005477.3(HCN4):c.2458G>A (p.Gly820Arg) rs761337460
NM_005477.3(HCN4):c.2465C>T (p.Thr822Met) rs201143364
NM_005477.3(HCN4):c.2466G>A (p.Thr822=)
NM_005477.3(HCN4):c.246C>T (p.Arg82=) rs775895751
NM_005477.3(HCN4):c.2470A>G (p.Arg824Gly)
NM_005477.3(HCN4):c.247G>C (p.Gly83Arg)
NM_005477.3(HCN4):c.2493C>A (p.Ser831=)
NM_005477.3(HCN4):c.2493C>T (p.Ser831=)
NM_005477.3(HCN4):c.2496G>T (p.Leu832=) rs139394937
NM_005477.3(HCN4):c.249C>T (p.Gly83=) rs1183278712
NM_005477.3(HCN4):c.2507C>T (p.Ala836Val) rs755045071
NM_005477.3(HCN4):c.2508G>A (p.Ala836=) rs766293595
NM_005477.3(HCN4):c.2517C>T (p.Ser839=)
NM_005477.3(HCN4):c.2518G>A (p.Ala840Thr) rs761507884
NM_005477.3(HCN4):c.2522C>T (p.Ser841Leu) rs200546024
NM_005477.3(HCN4):c.2523G>A (p.Ser841=) rs768157473
NM_005477.3(HCN4):c.2523G>T (p.Ser841=)
NM_005477.3(HCN4):c.2526C>T (p.Pro842=) rs201499694
NM_005477.3(HCN4):c.2527G>A (p.Ala843Thr) rs777023781
NM_005477.3(HCN4):c.252G>A (p.Ala84=)
NM_005477.3(HCN4):c.2534G>C (p.Ser845Thr)
NM_005477.3(HCN4):c.2537C>T (p.Pro846Leu) rs747467877
NM_005477.3(HCN4):c.2538G>A (p.Pro846=)
NM_005477.3(HCN4):c.2541C>G (p.Ser847=) rs772267234
NM_005477.3(HCN4):c.2545G>T (p.Val849Leu) rs202138767
NM_005477.3(HCN4):c.254G>T (p.Gly85Val)
NM_005477.3(HCN4):c.2555C>T (p.Pro852Leu) rs779241036
NM_005477.3(HCN4):c.2556G>A (p.Pro852=) rs117819825
NM_005477.3(HCN4):c.2571C>G (p.Phe857Leu)
NM_005477.3(HCN4):c.2587G>T (p.Ala863Ser) rs767354516
NM_005477.3(HCN4):c.2595C>T (p.Phe865=)
NM_005477.3(HCN4):c.2601C>A (p.Ala867=) rs143188160
NM_005477.3(HCN4):c.2604C>T (p.Pro868=) rs138773305
NM_005477.3(HCN4):c.2605G>A (p.Ala869Thr) rs775134377
NM_005477.3(HCN4):c.2605G>C (p.Ala869Pro)
NM_005477.3(HCN4):c.2606C>T (p.Ala869Val)
NM_005477.3(HCN4):c.260C>G (p.Ser87Cys)
NM_005477.3(HCN4):c.2615G>A (p.Ser872Asn)
NM_005477.3(HCN4):c.2616C>G (p.Ser872Arg)
NM_005477.3(HCN4):c.2628C>T (p.Pro876=)
NM_005477.3(HCN4):c.2630C>T (p.Ser877Leu)
NM_005477.3(HCN4):c.2634C>G (p.Ser878=)
NM_005477.3(HCN4):c.263G>A (p.Ser88Asn) rs1060500108
NM_005477.3(HCN4):c.2647C>T (p.Pro883Ser)
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509
NM_005477.3(HCN4):c.2650C>A (p.Pro884Thr) rs745819208
NM_005477.3(HCN4):c.2652C>T (p.Pro884=) rs373814254
NM_005477.3(HCN4):c.2653G>A (p.Gly885Arg)
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val) rs200575377
NM_005477.3(HCN4):c.2668C>G (p.Pro890Ala)
NM_005477.3(HCN4):c.2668C>T (p.Pro890Ser) rs184801511
NM_005477.3(HCN4):c.2669C>T (p.Pro890Leu) rs758929649
NM_005477.3(HCN4):c.2672C>T (p.Ser891Leu) rs768190354
NM_005477.3(HCN4):c.2673G>A (p.Ser891=) rs191092709
NM_005477.3(HCN4):c.2675C>T (p.Ala892Val)
NM_005477.3(HCN4):c.2694C>T (p.Gly898=) rs375169111
NM_005477.3(HCN4):c.2695G>A (p.Val899Ile) rs370669201
NM_005477.3(HCN4):c.2700C>A (p.Ala900=) rs377656260
NM_005477.3(HCN4):c.2700C>T (p.Ala900=)
NM_005477.3(HCN4):c.2701G>A (p.Ala901Thr) rs201742383
NM_005477.3(HCN4):c.2711T>C (p.Ile904Thr)
NM_005477.3(HCN4):c.2713_2734dup (p.Lys912fs) rs1595819839
NM_005477.3(HCN4):c.2715C>T (p.Ala905=) rs745886315
NM_005477.3(HCN4):c.2716G>A (p.Gly906Arg) rs373572497
NM_005477.3(HCN4):c.2718G>A (p.Gly906=)
NM_005477.3(HCN4):c.2730C>A (p.Phe910Leu) rs200814534
NM_005477.3(HCN4):c.2733C>T (p.His911=) rs565795330
NM_005477.3(HCN4):c.2739G>A (p.Ala913=) rs373411041
NM_005477.3(HCN4):c.2763C>T (p.Ser921=) rs764751378
NM_005477.3(HCN4):c.2764G>A (p.Asp922Asn) rs1020318942
NM_005477.3(HCN4):c.2775_2777del (p.Leu926del)
NM_005477.3(HCN4):c.2781C>G (p.Thr927=)
NM_005477.3(HCN4):c.2783C>T (p.Pro928Leu)
NM_005477.3(HCN4):c.2784G>A (p.Pro928=)
NM_005477.3(HCN4):c.2788C>T (p.Gln930Ter)
NM_005477.3(HCN4):c.2796C>G (p.Gly932=)
NM_005477.3(HCN4):c.2796C>T (p.Gly932=)
NM_005477.3(HCN4):c.2797G>A (p.Ala933Thr) rs762464413
NM_005477.3(HCN4):c.27C>G (p.Arg9=)
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys) rs199638465
NM_005477.3(HCN4):c.2801G>A (p.Arg934His) rs369485237
NM_005477.3(HCN4):c.2804C>A (p.Ser935Tyr) rs775803239
NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe) rs775803239
NM_005477.3(HCN4):c.2807C>T (p.Pro936Leu)
NM_005477.3(HCN4):c.2808G>A (p.Pro936=)
NM_005477.3(HCN4):c.2809C>T (p.Gln937Ter)
NM_005477.3(HCN4):c.2810A>T (p.Gln937Leu)
NM_005477.3(HCN4):c.2828C>A (p.Pro943His)
NM_005477.3(HCN4):c.2829C>T (p.Pro943=)
NM_005477.3(HCN4):c.2830G>A (p.Ala944Thr) rs777648103
NM_005477.3(HCN4):c.2831C>T (p.Ala944Val) rs144450232
NM_005477.3(HCN4):c.2832G>A (p.Ala944=)
NM_005477.3(HCN4):c.2833C>T (p.Pro945Ser)
NM_005477.3(HCN4):c.2838C>T (p.Pro946=) rs552881314
NM_005477.3(HCN4):c.2845C>T (p.Arg949Trp) rs755614529
NM_005477.3(HCN4):c.2846G>A (p.Arg949Gln)
NM_005477.3(HCN4):c.2858G>A (p.Gly953Glu) rs1555475226
NM_005477.3(HCN4):c.2864C>A (p.Pro955Gln)
NM_005477.3(HCN4):c.2864C>T (p.Pro955Leu) rs371562763
NM_005477.3(HCN4):c.2865G>A (p.Pro955=) rs1385591989
NM_005477.3(HCN4):c.2875C>G (p.Leu959Val) rs1057524285
NM_005477.3(HCN4):c.2876T>A (p.Leu959Gln)
NM_005477.3(HCN4):c.2878CCACCC[1] (p.Pro962_Pro963del)
NM_005477.3(HCN4):c.2879C>A (p.Pro960Gln)
NM_005477.3(HCN4):c.2889C>T (p.Pro963=) rs1376847040
NM_005477.3(HCN4):c.2901C>T (p.Ser967=) rs570068696
NM_005477.3(HCN4):c.2902C>T (p.Pro968Ser)
NM_005477.3(HCN4):c.2903C>T (p.Pro968Leu) rs548194804
NM_005477.3(HCN4):c.2904G>A (p.Pro968=) rs368145651
NM_005477.3(HCN4):c.2914C>T (p.Pro972Ser)
NM_005477.3(HCN4):c.2916C>T (p.Pro972=) rs559422705
NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg) rs200495478
NM_005477.3(HCN4):c.2917G>T (p.Gly973Trp)
NM_005477.3(HCN4):c.2922G>A (p.Gln974=)
NM_005477.3(HCN4):c.2929C>A (p.Gln977Lys)
NM_005477.3(HCN4):c.2937C>T (p.Pro979=)
NM_005477.3(HCN4):c.2938G>A (p.Gly980Arg) rs780719805
NM_005477.3(HCN4):c.2939G>C (p.Gly980Ala) rs367719274
NM_005477.3(HCN4):c.2941G>T (p.Glu981Ter)
NM_005477.3(HCN4):c.2949C>T (p.Ser983=)
NM_005477.3(HCN4):c.2967C>G (p.Gly989=)
NM_005477.3(HCN4):c.2969C>G (p.Pro990Arg)
NM_005477.3(HCN4):c.2978C>T (p.Thr993Met) rs199798661
NM_005477.3(HCN4):c.2979G>A (p.Thr993=) rs75307879
NM_005477.3(HCN4):c.2992C>G (p.Pro998Ala)
NM_005477.3(HCN4):c.2995C>T (p.Arg999Trp) rs538668505
NM_005477.3(HCN4):c.2997G>A (p.Arg999=) rs749040050
NM_005477.3(HCN4):c.3004G>C (p.Glu1002Gln) rs1060500106
NM_005477.3(HCN4):c.3008C>T (p.Pro1003Leu)
NM_005477.3(HCN4):c.3009G>A (p.Pro1003=) rs775401682
NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser) rs201418838
NM_005477.3(HCN4):c.3011del (p.Pro1004fs)
NM_005477.3(HCN4):c.3012G>A (p.Pro1004=) rs377602893
NM_005477.3(HCN4):c.3021G>A (p.Val1007=)
NM_005477.3(HCN4):c.3028G>T (p.Ala1010Ser) rs748634893
NM_005477.3(HCN4):c.302C>T (p.Ala101Val) rs781730381
NM_005477.3(HCN4):c.3031T>C (p.Ser1011Pro) rs890395300
NM_005477.3(HCN4):c.3033T>G (p.Ser1011=) rs186728422
NM_005477.3(HCN4):c.3036G>C (p.Gly1012=) rs993764984
NM_005477.3(HCN4):c.3041C>G (p.Ala1014Gly) rs1567767635
NM_005477.3(HCN4):c.3045C>T (p.Ser1015=) rs767495892
NM_005477.3(HCN4):c.3057T>C (p.Phe1019=)
NM_005477.3(HCN4):c.3059C>T (p.Thr1020Ile) rs764138171
NM_005477.3(HCN4):c.3062C>T (p.Pro1021Leu)
NM_005477.3(HCN4):c.3064C>T (p.Arg1022Ter) rs762950777
NM_005477.3(HCN4):c.3065G>A (p.Arg1022Gln)
NM_005477.3(HCN4):c.3071G>T (p.Gly1024Val) rs775491475
NM_005477.3(HCN4):c.3075C>T (p.Leu1025=)
NM_005477.3(HCN4):c.3078C>T (p.Ser1026=) rs202188345
NM_005477.3(HCN4):c.3081C>T (p.Pro1027=)
NM_005477.3(HCN4):c.3087C>T (p.Gly1029=)
NM_005477.3(HCN4):c.3100C>A (p.Pro1034Thr) rs1158677290
NM_005477.3(HCN4):c.3100C>T (p.Pro1034Ser)
NM_005477.3(HCN4):c.3101C>G (p.Pro1034Arg)
NM_005477.3(HCN4):c.310G>A (p.Gly104Ser) rs757662055
NM_005477.3(HCN4):c.310G>T (p.Gly104Cys) rs757662055
NM_005477.3(HCN4):c.3116C>T (p.Pro1039Leu) rs572132730
NM_005477.3(HCN4):c.3117G>A (p.Pro1039=) rs749785521
NM_005477.3(HCN4):c.3125C>T (p.Pro1042Leu)
NM_005477.3(HCN4):c.3126G>A (p.Pro1042=) rs1057521459
NM_005477.3(HCN4):c.3130C>T (p.Arg1044Trp) rs553950644
NM_005477.3(HCN4):c.3131G>A (p.Arg1044Gln) rs750637152
NM_005477.3(HCN4):c.3134C>T (p.Ala1045Val) rs980750316
NM_005477.3(HCN4):c.3135C>T (p.Ala1045=) rs1342751732
NM_005477.3(HCN4):c.3147C>T (p.His1049=) rs757396406
NM_005477.3(HCN4):c.3148G>A (p.Gly1050Arg) rs1443227484
NM_005477.3(HCN4):c.3166C>A (p.Pro1056Thr)
NM_005477.3(HCN4):c.3169_3189dup (p.Ala1057_Pro1063dup)
NM_005477.3(HCN4):c.3172T>G (p.Ser1058Ala) rs1064796786
NM_005477.3(HCN4):c.3178C>T (p.Pro1060Ser)
NM_005477.3(HCN4):c.3182C>G (p.Pro1061Arg)
NM_005477.3(HCN4):c.3184C>T (p.Pro1062Ser)
NM_005477.3(HCN4):c.3187C>A (p.Pro1063Thr) rs535227661
NM_005477.3(HCN4):c.3191_3217del (p.Gln1064_Pro1072del)
NM_005477.3(HCN4):c.3193G>A (p.Val1065Ile)
NM_005477.3(HCN4):c.3195C>A (p.Val1065=) rs4493011
NM_005477.3(HCN4):c.3195C>T (p.Val1065=)
NM_005477.3(HCN4):c.3197C>A (p.Pro1066His) rs765155640
NM_005477.3(HCN4):c.3202C>T (p.Arg1068Cys)
NM_005477.3(HCN4):c.3203G>A (p.Arg1068His) rs776270218
NM_005477.3(HCN4):c.3205C>T (p.Arg1069Trp)
NM_005477.3(HCN4):c.3209G>A (p.Gly1070Asp) rs772839442
NM_005477.3(HCN4):c.3210C>T (p.Gly1070=)
NM_005477.3(HCN4):c.3218C>T (p.Pro1073Leu) rs982016034
NM_005477.3(HCN4):c.321C>T (p.Gly107=) rs1555479019
NM_005477.3(HCN4):c.3220C>T (p.Leu1074Phe)
NM_005477.3(HCN4):c.3228C>T (p.Pro1076=) rs770161577
NM_005477.3(HCN4):c.3229G>A (p.Gly1077Ser)
NM_005477.3(HCN4):c.3232C>T (p.Arg1078Cys) rs781376523
NM_005477.3(HCN4):c.3233G>A (p.Arg1078His)
NM_005477.3(HCN4):c.3242A>G (p.Gln1081Arg)
NM_005477.3(HCN4):c.3243G>A (p.Gln1081=)
NM_005477.3(HCN4):c.3261C>T (p.Ser1087=)
NM_005477.3(HCN4):c.3262G>A (p.Ala1088Thr) rs1050326641
NM_005477.3(HCN4):c.3263C>T (p.Ala1088Val)
NM_005477.3(HCN4):c.3264G>A (p.Ala1088=) rs752705479
NM_005477.3(HCN4):c.327C>T (p.Gly109=) rs777999747
NM_005477.3(HCN4):c.3288C>T (p.Asp1096=) rs116042117
NM_005477.3(HCN4):c.3289G>A (p.Gly1097Arg) rs753734843
NM_005477.3(HCN4):c.3293C>T (p.Ala1098Val) rs1064797200
NM_005477.3(HCN4):c.3294G>A (p.Ala1098=) rs766077921
NM_005477.3(HCN4):c.3304C>T (p.Arg1102Cys) rs760392343
NM_005477.3(HCN4):c.3305G>A (p.Arg1102His) rs548130184
NM_005477.3(HCN4):c.3307A>G (p.Arg1103Gly) rs878854774
NM_005477.3(HCN4):c.331G>A (p.Gly111Ser)
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148
NM_005477.3(HCN4):c.334G>A (p.Gly112Ser) rs765099391
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu) rs140402087
NM_005477.3(HCN4):c.3351G>A (p.Pro1117=) rs375138488
NM_005477.3(HCN4):c.3353T>C (p.Leu1118Pro) rs1165134160
NM_005477.3(HCN4):c.3354C>T (p.Leu1118=) rs867816182
NM_005477.3(HCN4):c.335G>C (p.Gly112Ala) rs1595837506
NM_005477.3(HCN4):c.3371G>A (p.Gly1124Asp)
NM_005477.3(HCN4):c.3379G>A (p.Gly1127Arg) rs748279911
NM_005477.3(HCN4):c.3382G>A (p.Gly1128Ser) rs779132775
NM_005477.3(HCN4):c.3386G>A (p.Ser1129Asn)
NM_005477.3(HCN4):c.3388G>A (p.Gly1130Arg) rs1326171404
NM_005477.3(HCN4):c.3396C>T (p.Ser1132=) rs369224427
NM_005477.3(HCN4):c.3397G>A (p.Gly1133Arg)
NM_005477.3(HCN4):c.3397G>C (p.Gly1133Arg)
NM_005477.3(HCN4):c.3401G>A (p.Gly1134Asp)
NM_005477.3(HCN4):c.3405C>T (p.Leu1135=) rs548860628
NM_005477.3(HCN4):c.3406G>A (p.Gly1136Ser) rs761421530
NM_005477.3(HCN4):c.3407G>T (p.Gly1136Val) rs1377027284
NM_005477.3(HCN4):c.3409C>T (p.Pro1137Ser) rs773914774
NM_005477.3(HCN4):c.3411C>A (p.Pro1137=) rs763496884
NM_005477.3(HCN4):c.3412C>G (p.Pro1138Ala) rs915209025
NM_005477.3(HCN4):c.3414del (p.Arg1140fs) rs746402732
NM_005477.3(HCN4):c.3417G>A (p.Gly1139=)
NM_005477.3(HCN4):c.3428G>T (p.Gly1143Val) rs1555475094
NM_005477.3(HCN4):c.3438C>A (p.Pro1146=)
NM_005477.3(HCN4):c.3446_3447delinsTT (p.His1149Leu)
NM_005477.3(HCN4):c.3447C>T (p.His1149=)
NM_005477.3(HCN4):c.3452C>T (p.Thr1151Ile)
NM_005477.3(HCN4):c.3461G>A (p.Arg1154Gln) rs145862018
NM_005477.3(HCN4):c.3468A>G (p.Thr1156=) rs947950341
NM_005477.3(HCN4):c.3487C>A (p.Pro1163Thr) rs779811451
NM_005477.3(HCN4):c.3488C>A (p.Pro1163His) rs756052150
NM_005477.3(HCN4):c.3490C>G (p.Pro1164Ala)
NM_005477.3(HCN4):c.3497_3500del (p.Ser1166fs) rs774674047
NM_005477.3(HCN4):c.3501G>C (p.Leu1167Phe)
NM_005477.3(HCN4):c.3502_3505del (p.Phe1168fs) rs786205259
NM_005477.3(HCN4):c.3503T>C (p.Phe1168Ser)
NM_005477.3(HCN4):c.3526G>C (p.Gly1176Arg) rs1060500104
NM_005477.3(HCN4):c.3531G>A (p.Gly1177=) rs375911378
NM_005477.3(HCN4):c.3531G>T (p.Gly1177=) rs375911378
NM_005477.3(HCN4):c.3533C>T (p.Pro1178Leu)
NM_005477.3(HCN4):c.3541A>C (p.Thr1181Pro)
NM_005477.3(HCN4):c.3568G>A (p.Ala1190Thr) rs372243234
NM_005477.3(HCN4):c.3575C>T (p.Pro1192Leu) rs774400171
NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln) rs200507617
NM_005477.3(HCN4):c.3579G>A (p.Glu1193=)
NM_005477.3(HCN4):c.3582A>G (p.Pro1194=) rs375637572
NM_005477.3(HCN4):c.3586C>T (p.Arg1196Cys) rs780977563
NM_005477.3(HCN4):c.3587G>A (p.Arg1196His) rs147181577
NM_005477.3(HCN4):c.3596T>A (p.Leu1199Gln) rs146751122
NM_005477.3(HCN4):c.3597G>A (p.Leu1199=)
NM_005477.3(HCN4):c.3599_3600inv (p.Pro1200Leu)
NM_005477.3(HCN4):c.3600A>G (p.Pro1200=) rs529004
NM_005477.3(HCN4):c.3600A>T (p.Pro1200=) rs529004
NM_005477.3(HCN4):c.3605A>G (p.Asn1202Ser) rs768028811
NM_005477.3(HCN4):c.3609A>G (p.Leu1203=)
NM_005477.3(HCN4):c.362A>C (p.His121Pro) rs1370522527
NM_005477.3(HCN4):c.368A>G (p.His123Arg) rs1555479000
NM_005477.3(HCN4):c.36C>G (p.Leu12=) rs201193660
NM_005477.3(HCN4):c.371A>G (p.Asp124Gly)
NM_005477.3(HCN4):c.375C>T (p.Ser125=)
NM_005477.3(HCN4):c.379G>A (p.Glu127Lys) rs1056770175
NM_005477.3(HCN4):c.394A>C (p.Ile132Leu) rs772764704
NM_005477.3(HCN4):c.396C>A (p.Ile132=)
NM_005477.3(HCN4):c.409G>A (p.Ala137Thr)
NM_005477.3(HCN4):c.413C>T (p.Ser138Phe) rs1567801864
NM_005477.3(HCN4):c.418G>A (p.Gly140Ser) rs773857091
NM_005477.3(HCN4):c.433C>G (p.Pro145Ala) rs886043525
NM_005477.3(HCN4):c.433C>T (p.Pro145Ser)
NM_005477.3(HCN4):c.434C>T (p.Pro145Leu) rs768272301
NM_005477.3(HCN4):c.445G>A (p.Ala149Thr)
NM_005477.3(HCN4):c.453G>A (p.Glu151=) rs1162105115
NM_005477.3(HCN4):c.454C>G (p.Pro152Ala) rs1392411769
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115
NM_005477.3(HCN4):c.465C>T (p.Pro155=) rs956956393
NM_005477.3(HCN4):c.466G>A (p.Gly156Ser) rs924203370
NM_005477.3(HCN4):c.471C>T (p.Ala157=)
NM_005477.3(HCN4):c.47C>T (p.Pro16Leu)
NM_005477.3(HCN4):c.483_500dup (p.Ala162_Pro167dup)
NM_005477.3(HCN4):c.493C>T (p.Pro165Ser) rs1489387068
NM_005477.3(HCN4):c.497C>T (p.Pro166Leu) rs771442346
NM_005477.3(HCN4):c.513A>T (p.Pro171=)
NM_005477.3(HCN4):c.515C>G (p.Pro172Arg)
NM_005477.3(HCN4):c.516G>A (p.Pro172=) rs772278008
NM_005477.3(HCN4):c.520C>G (p.Pro174Ala)
NM_005477.3(HCN4):c.520C>T (p.Pro174Ser) rs542532555
NM_005477.3(HCN4):c.524C>T (p.Ala175Val) rs1464305426
NM_005477.3(HCN4):c.526T>A (p.Ser176Thr)
NM_005477.3(HCN4):c.531C>T (p.Ala177=)
NM_005477.3(HCN4):c.537C>T (p.Cys179=)
NM_005477.3(HCN4):c.539A>C (p.Glu180Ala)
NM_005477.3(HCN4):c.545C>T (p.Pro182Leu) rs755904697
NM_005477.3(HCN4):c.546C>G (p.Pro182=) rs571671463
NM_005477.3(HCN4):c.546C>T (p.Pro182=)
NM_005477.3(HCN4):c.549G>T (p.Ser183=) rs767095274
NM_005477.3(HCN4):c.550G>A (p.Val184Met)
NM_005477.3(HCN4):c.561T>C (p.Ala187=) rs375206856
NM_005477.3(HCN4):c.579C>G (p.Gly193=)
NM_005477.3(HCN4):c.581C>T (p.Ala194Val) rs773676799
NM_005477.3(HCN4):c.582G>A (p.Ala194=)
NM_005477.3(HCN4):c.584C>T (p.Ala195Val) rs201375192
NM_005477.3(HCN4):c.585T>G (p.Ala195=) rs748468603
NM_005477.3(HCN4):c.588C>T (p.Ala196=)
NM_005477.3(HCN4):c.592G>A (p.Asp198Asn) rs1168642170
NM_005477.3(HCN4):c.594C>G (p.Asp198Glu)
NM_005477.3(HCN4):c.597G>T (p.Gln199His) rs768734319
NM_005477.3(HCN4):c.621C>G (p.Arg207=) rs727503958
NM_005477.3(HCN4):c.633C>G (p.Ala211=)
NM_005477.3(HCN4):c.646C>G (p.Arg216Gly)
NM_005477.3(HCN4):c.651G>T (p.Gln217His) rs1323141666
NM_005477.3(HCN4):c.654C>T (p.Phe218=) rs764818507
NM_005477.3(HCN4):c.655G>A (p.Gly219Arg)
NM_005477.3(HCN4):c.658G>T (p.Ala220Ser) rs953554623
NM_005477.3(HCN4):c.661A>G (p.Met221Val)
NM_005477.3(HCN4):c.674G>A (p.Gly225Glu) rs1456642227
NM_005477.3(HCN4):c.681C>T (p.Asn227=)
NM_005477.3(HCN4):c.691C>T (p.Leu231=)
NM_005477.3(HCN4):c.697A>T (p.Met233Leu)
NM_005477.3(HCN4):c.724C>T (p.Arg242Cys) rs745880598
NM_005477.3(HCN4):c.743A>G (p.Lys248Arg) rs191744064
NM_005477.3(HCN4):c.753A>G (p.Gly251=)
NM_005477.3(HCN4):c.771C>T (p.Pro257=)
NM_005477.3(HCN4):c.775A>G (p.Ser259Gly) rs1567801364
NM_005477.3(HCN4):c.786-7T>C
NM_005477.3(HCN4):c.829C>T (p.Leu277=)
NM_005477.3(HCN4):c.82G>A (p.Glu28Lys) rs867068803
NM_005477.3(HCN4):c.839T>C (p.Ile280Thr)
NM_005477.3(HCN4):c.852C>T (p.Ile284=)
NM_005477.3(HCN4):c.864G>A (p.Lys288=) rs1296638967
NM_005477.3(HCN4):c.88G>A (p.Glu30Lys)
NM_005477.3(HCN4):c.88G>C (p.Glu30Gln)
NM_005477.3(HCN4):c.896A>G (p.Asn299Ser) rs1057518303
NM_005477.3(HCN4):c.915C>A (p.Phe305Leu)
NM_005477.3(HCN4):c.924C>T (p.Ile308=)
NM_005477.3(HCN4):c.946A>T (p.Thr316Ser)
NM_005477.3(HCN4):c.954C>T (p.Ile318=) rs764050400
NM_005477.3(HCN4):c.955G>A (p.Val319Met)
NM_005477.3(HCN4):c.972A>G (p.Thr324=) rs747884744
NM_005477.3(HCN4):c.975G>T (p.Glu325Asp)
NM_005477.3(HCN4):c.984G>A (p.Leu328=)
NM_005477.3(HCN4):c.988C>T (p.Pro330Ser) rs1555477316
NM_005477.3(HCN4):c.989C>T (p.Pro330Leu) rs370442588
NM_005477.3(HCN4):c.990G>A (p.Pro330=) rs146954200
NM_005477.3(HCN4):c.990G>T (p.Pro330=) rs146954200
NM_005477.3(HCN4):c.994C>T (p.Arg332Trp)
NM_005477.3(HCN4):c.995G>A (p.Arg332Gln) rs368164073

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