ClinVar Miner

List of variants in gene KCNH5 studied for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 713
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_139318.5(KCNH5):c.2577A>G (p.Arg859=) rs7161127 0.93044
NM_139318.5(KCNH5):c.1570-18A>G rs12588427 0.38324
NM_139318.5(KCNH5):c.549+17T>C rs1950975 0.35828
NM_139318.5(KCNH5):c.2233G>A (p.Ala745Thr) rs4902176 0.30330
NM_139318.5(KCNH5):c.2577= (p.Arg859=) rs7161127 0.06956
NM_139318.5(KCNH5):c.2088G>A (p.Val696=) rs36004050 0.02985
NM_139318.5(KCNH5):c.1369+7A>G rs79489451 0.00818
NM_139318.5(KCNH5):c.775C>T (p.Leu259=) rs142666361 0.00262
NM_139318.5(KCNH5):c.2315A>G (p.Glu772Gly) rs79913182 0.00188
NM_139318.5(KCNH5):c.819C>T (p.Pro273=) rs115017019 0.00177
NM_139318.5(KCNH5):c.1620A>G (p.Leu540=) rs115435938 0.00096
NM_139318.5(KCNH5):c.351A>G (p.Glu117=) rs116027402 0.00083
NM_139318.5(KCNH5):c.1098A>G (p.Ile366Met) rs146883958 0.00082
NM_139318.5(KCNH5):c.2826G>C (p.Leu942=) rs150366779 0.00065
NM_139318.5(KCNH5):c.2652G>A (p.Pro884=) rs143147156 0.00061
NM_139318.5(KCNH5):c.528T>C (p.His176=) rs142252600 0.00052
NM_139318.5(KCNH5):c.943-8A>T rs781526061 0.00045
NM_139318.5(KCNH5):c.943-18T>G rs541748886 0.00043
NM_139318.5(KCNH5):c.1970C>G (p.Ala657Gly) rs143775193 0.00041
NM_139318.5(KCNH5):c.515C>G (p.Thr172Arg) rs34764419 0.00039
NM_139318.5(KCNH5):c.2097C>A (p.Ser699Arg) rs148812753 0.00036
NM_139318.5(KCNH5):c.1960A>G (p.Thr654Ala) rs199774231 0.00030
NM_139318.5(KCNH5):c.1395A>C (p.Gly465=) rs201996055 0.00029
NM_139318.5(KCNH5):c.261C>T (p.Asn87=) rs150609268 0.00029
NM_139318.5(KCNH5):c.2236T>C (p.Ser746Pro) rs34439924 0.00024
NM_139318.5(KCNH5):c.736G>T (p.Ala246Ser) rs114447363 0.00021
NM_139318.5(KCNH5):c.198-10T>C rs767054080 0.00018
NM_139318.5(KCNH5):c.2953G>T (p.Glu985Ter) rs368953680 0.00016
NM_139318.5(KCNH5):c.733A>G (p.Ile245Val) rs754761406 0.00016
NM_139318.5(KCNH5):c.753T>C (p.Asp251=) rs377418939 0.00016
NM_139318.5(KCNH5):c.1347G>A (p.Ser449=) rs776652131 0.00014
NM_139318.5(KCNH5):c.1579A>T (p.Ile527Phe) rs149561461 0.00013
NM_139318.5(KCNH5):c.1884G>A (p.Ala628=) rs776100358 0.00012
NM_139318.5(KCNH5):c.224A>G (p.Lys75Arg) rs557868420 0.00012
NM_139318.5(KCNH5):c.1119C>T (p.Tyr373=) rs765619899 0.00011
NM_139318.5(KCNH5):c.1217C>G (p.Ala406Gly) rs143926897 0.00011
NM_139318.5(KCNH5):c.304+14T>C rs375852116 0.00011
NM_139318.5(KCNH5):c.2789C>T (p.Ala930Val) rs562140660 0.00010
NM_139318.5(KCNH5):c.685G>A (p.Ala229Thr) rs200308580 0.00010
NM_139318.5(KCNH5):c.1257C>T (p.Tyr419=) rs372290413 0.00008
NM_139318.5(KCNH5):c.2651C>T (p.Pro884Leu) rs144667189 0.00008
NM_139318.5(KCNH5):c.1252T>C (p.Leu418=) rs746183987 0.00007
NM_139318.5(KCNH5):c.2532C>T (p.Pro844=) rs770692227 0.00007
NM_139318.5(KCNH5):c.2691C>T (p.Pro897=) rs140809753 0.00007
NM_139318.5(KCNH5):c.2884C>T (p.Pro962Ser) rs202223175 0.00007
NM_139318.5(KCNH5):c.550-11C>G rs368371920 0.00007
NM_139318.5(KCNH5):c.171C>T (p.Asp57=) rs368773009 0.00006
NM_139318.5(KCNH5):c.2103C>T (p.Pro701=) rs112731796 0.00006
NM_139318.5(KCNH5):c.2364C>T (p.Gly788=) rs753750196 0.00006
NM_139318.5(KCNH5):c.2489A>G (p.Asn830Ser) rs151103620 0.00006
NM_139318.5(KCNH5):c.2534A>G (p.Lys845Arg) rs1189342324 0.00006
NM_139318.5(KCNH5):c.264C>T (p.Tyr88=) rs373008977 0.00006
NM_139318.5(KCNH5):c.304+18T>C rs373281826 0.00006
NM_139318.5(KCNH5):c.440C>T (p.Thr147Met) rs180894715 0.00006
NM_139318.5(KCNH5):c.810C>T (p.Phe270=) rs376391048 0.00006
NM_139318.5(KCNH5):c.1239C>G (p.Pro413=) rs140173107 0.00005
NM_139318.5(KCNH5):c.304A>C (p.Arg102=) rs141909523 0.00005
NM_139318.5(KCNH5):c.1003G>A (p.Ala335Thr) rs376158544 0.00004
NM_139318.5(KCNH5):c.1137C>T (p.Val379=) rs767226876 0.00004
NM_139318.5(KCNH5):c.1346C>T (p.Ser449Leu) rs369774413 0.00004
NM_139318.5(KCNH5):c.1569+16G>A rs374773556 0.00004
NM_139318.5(KCNH5):c.1666G>A (p.Asp556Asn) rs150842380 0.00004
NM_139318.5(KCNH5):c.1694A>G (p.Glu565Gly) rs781050144 0.00004
NM_139318.5(KCNH5):c.1719C>T (p.Pro573=) rs374752391 0.00004
NM_139318.5(KCNH5):c.1887C>T (p.Asn629=) rs373387419 0.00004
NM_139318.5(KCNH5):c.1902G>A (p.Thr634=) rs200142051 0.00004
NM_139318.5(KCNH5):c.197+16G>A rs370733252 0.00004
NM_139318.5(KCNH5):c.197+3A>G rs199592316 0.00004
NM_139318.5(KCNH5):c.1992C>T (p.Leu664=) rs201733636 0.00004
NM_139318.5(KCNH5):c.2456G>T (p.Gly819Val) rs373106772 0.00004
NM_139318.5(KCNH5):c.2828C>T (p.Ser943Leu) rs761523326 0.00004
NM_139318.5(KCNH5):c.399G>A (p.Leu133=) rs200038886 0.00004
NM_139318.5(KCNH5):c.501G>A (p.Thr167=) rs200714977 0.00004
NM_139318.5(KCNH5):c.880G>A (p.Val294Met) rs376026108 0.00004
NM_139318.5(KCNH5):c.930A>T (p.Glu310Asp) rs201960719 0.00004
NM_139318.5(KCNH5):c.1201C>T (p.Arg401Cys) rs753034623 0.00003
NM_139318.5(KCNH5):c.1339A>G (p.Met447Val) rs200506671 0.00003
NM_139318.5(KCNH5):c.1557T>C (p.Ile519=) rs759624671 0.00003
NM_139318.5(KCNH5):c.1935C>G (p.Ala645=) rs377008686 0.00003
NM_139318.5(KCNH5):c.2215C>T (p.Arg739Cys) rs372185345 0.00003
NM_139318.5(KCNH5):c.2238C>T (p.Ser746=) rs780581992 0.00003
NM_139318.5(KCNH5):c.2361C>T (p.Asn787=) rs778860669 0.00003
NM_139318.5(KCNH5):c.2438G>A (p.Arg813Gln) rs534607642 0.00003
NM_139318.5(KCNH5):c.2872C>T (p.Pro958Ser) rs141160972 0.00003
NM_139318.5(KCNH5):c.396G>A (p.Thr132=) rs143574473 0.00003
NM_139318.5(KCNH5):c.817C>T (p.Pro273Ser) rs747654948 0.00003
NM_139318.5(KCNH5):c.136G>A (p.Gly46Ser) rs777644149 0.00002
NM_139318.5(KCNH5):c.1436A>G (p.Asn479Ser) rs1887768573 0.00002
NM_139318.5(KCNH5):c.1624C>T (p.Arg542Trp) rs543742412 0.00002
NM_139318.5(KCNH5):c.1865C>T (p.Thr622Ile) rs376649352 0.00002
NM_139318.5(KCNH5):c.1883C>T (p.Ala628Val) rs761541451 0.00002
NM_139318.5(KCNH5):c.2072G>A (p.Arg691Gln) rs200737420 0.00002
NM_139318.5(KCNH5):c.2082T>C (p.Asn694=) rs148060194 0.00002
NM_139318.5(KCNH5):c.2089A>T (p.Thr697Ser) rs544844321 0.00002
NM_139318.5(KCNH5):c.213A>G (p.Glu71=) rs372455325 0.00002
NM_139318.5(KCNH5):c.2148G>A (p.Gln716=) rs562417762 0.00002
NM_139318.5(KCNH5):c.2244C>T (p.Thr748=) rs140878753 0.00002
NM_139318.5(KCNH5):c.2289G>A (p.Thr763=) rs1286363254 0.00002
NM_139318.5(KCNH5):c.2355G>A (p.Lys785=) rs758116293 0.00002
NM_139318.5(KCNH5):c.2493C>T (p.Val831=) rs142813655 0.00002
NM_139318.5(KCNH5):c.2557G>A (p.Val853Met) rs140331213 0.00002
NM_139318.5(KCNH5):c.2829G>A (p.Ser943=) rs761472576 0.00002
NM_139318.5(KCNH5):c.2842C>T (p.Pro948Ser) rs200587228 0.00002
NM_139318.5(KCNH5):c.33G>A (p.Pro11=) rs775018863 0.00002
NM_139318.5(KCNH5):c.460C>T (p.Arg154Trp) rs745970423 0.00002
NM_139318.5(KCNH5):c.765C>T (p.Asp255=) rs150295358 0.00002
NM_139318.5(KCNH5):c.766G>A (p.Val256Ile) rs756506083 0.00002
NM_139318.5(KCNH5):c.1032T>C (p.Tyr344=) rs371163377 0.00001
NM_139318.5(KCNH5):c.1047C>T (p.Leu349=) rs377667112 0.00001
NM_139318.5(KCNH5):c.1110C>T (p.Ile370=) rs758631477 0.00001
NM_139318.5(KCNH5):c.111T>C (p.Asp37=) rs888168430 0.00001
NM_139318.5(KCNH5):c.1196C>T (p.Pro399Leu) rs1447297190 0.00001
NM_139318.5(KCNH5):c.1202G>A (p.Arg401His) rs1461051682 0.00001
NM_139318.5(KCNH5):c.1272C>T (p.Tyr424=) rs115182827 0.00001
NM_139318.5(KCNH5):c.1302A>C (p.Gly434=) rs754439480 0.00001
NM_139318.5(KCNH5):c.1427C>G (p.Ala476Gly) rs922788543 0.00001
NM_139318.5(KCNH5):c.1453C>T (p.Leu485=) rs554047274 0.00001
NM_139318.5(KCNH5):c.1465C>T (p.Arg489Trp) rs1346595307 0.00001
NM_139318.5(KCNH5):c.147A>G (p.Lys49=) rs752798442 0.00001
NM_139318.5(KCNH5):c.1513G>A (p.Val505Ile) rs1480621890 0.00001
NM_139318.5(KCNH5):c.1569+14T>C rs1324927158 0.00001
NM_139318.5(KCNH5):c.1569+7G>T rs771120157 0.00001
NM_139318.5(KCNH5):c.15G>C (p.Lys5Asn) rs775719605 0.00001
NM_139318.5(KCNH5):c.1625G>A (p.Arg542Gln) rs762196737 0.00001
NM_139318.5(KCNH5):c.1658T>C (p.Leu553Ser) rs1406117275 0.00001
NM_139318.5(KCNH5):c.1688C>T (p.Ala563Val) rs1261631537 0.00001
NM_139318.5(KCNH5):c.172G>A (p.Val58Ile) rs1057417977 0.00001
NM_139318.5(KCNH5):c.1812G>A (p.Val604=) rs764572114 0.00001
NM_139318.5(KCNH5):c.1822+18A>C rs572126581 0.00001
NM_139318.5(KCNH5):c.1847T>A (p.Ile616Asn) rs753938626 0.00001
NM_139318.5(KCNH5):c.1881T>C (p.Cys627=) rs145927509 0.00001
NM_139318.5(KCNH5):c.1886A>T (p.Asn629Ile) rs1204494580 0.00001
NM_139318.5(KCNH5):c.1924A>G (p.Lys642Glu) rs1457212190 0.00001
NM_139318.5(KCNH5):c.1931A>G (p.Glu644Gly) rs779052121 0.00001
NM_139318.5(KCNH5):c.195C>T (p.Cys65=) rs552906500 0.00001
NM_139318.5(KCNH5):c.198-4C>T rs967461521 0.00001
NM_139318.5(KCNH5):c.2019+13G>C rs1441813338 0.00001
NM_139318.5(KCNH5):c.2019+9T>C rs1207646695 0.00001
NM_139318.5(KCNH5):c.2020-10C>T rs755413247 0.00001
NM_139318.5(KCNH5):c.2024T>C (p.Ile675Thr) rs747312358 0.00001
NM_139318.5(KCNH5):c.2045T>A (p.Val682Glu) rs547160809 0.00001
NM_139318.5(KCNH5):c.2064G>A (p.Glu688=) rs766131657 0.00001
NM_139318.5(KCNH5):c.2075A>G (p.Gln692Arg) rs372088477 0.00001
NM_139318.5(KCNH5):c.2152G>C (p.Glu718Gln) rs1308657380 0.00001
NM_139318.5(KCNH5):c.2159G>A (p.Arg720Gln) rs201820912 0.00001
NM_139318.5(KCNH5):c.2242A>G (p.Thr748Ala) rs751206598 0.00001
NM_139318.5(KCNH5):c.2249C>T (p.Thr750Ile) rs1359517285 0.00001
NM_139318.5(KCNH5):c.2253C>T (p.Ser751=) rs772353105 0.00001
NM_139318.5(KCNH5):c.2322T>C (p.Leu774=) rs1479602373 0.00001
NM_139318.5(KCNH5):c.2335C>T (p.Arg779Cys) rs200292403 0.00001
NM_139318.5(KCNH5):c.2360A>G (p.Asn787Ser) rs745444217 0.00001
NM_139318.5(KCNH5):c.2362G>A (p.Gly788Ser) rs369811431 0.00001
NM_139318.5(KCNH5):c.2366G>T (p.Gly789Val) rs767520778 0.00001
NM_139318.5(KCNH5):c.2371G>C (p.Asp791His) rs1259994686 0.00001
NM_139318.5(KCNH5):c.2372A>G (p.Asp791Gly) rs548465461 0.00001
NM_139318.5(KCNH5):c.2420A>G (p.Asn807Ser) rs770323761 0.00001
NM_139318.5(KCNH5):c.2421T>C (p.Asn807=) rs746564507 0.00001
NM_139318.5(KCNH5):c.2447A>G (p.Asn816Ser) rs756083906 0.00001
NM_139318.5(KCNH5):c.2488A>G (p.Asn830Asp) rs1445149671 0.00001
NM_139318.5(KCNH5):c.249A>C (p.Gln83His) rs1051611713 0.00001
NM_139318.5(KCNH5):c.2631G>A (p.Lys877=) rs759173309 0.00001
NM_139318.5(KCNH5):c.2667C>T (p.Pro889=) rs1595587325 0.00001
NM_139318.5(KCNH5):c.2686C>T (p.His896Tyr) rs758357872 0.00001
NM_139318.5(KCNH5):c.2730G>A (p.Leu910=) rs764788193 0.00001
NM_139318.5(KCNH5):c.2745C>T (p.His915=) rs138093802 0.00001
NM_139318.5(KCNH5):c.2782A>G (p.Met928Val) rs775247224 0.00001
NM_139318.5(KCNH5):c.2788G>T (p.Ala930Ser) rs202201734 0.00001
NM_139318.5(KCNH5):c.2837G>A (p.Ser946Asn) rs967009755 0.00001
NM_139318.5(KCNH5):c.2838C>T (p.Ser946=) rs763905666 0.00001
NM_139318.5(KCNH5):c.295A>C (p.Lys99Gln) rs780461223 0.00001
NM_139318.5(KCNH5):c.305-6T>C rs772485576 0.00001
NM_139318.5(KCNH5):c.395C>T (p.Thr132Met) rs765878799 0.00001
NM_139318.5(KCNH5):c.412A>G (p.Ile138Val) rs934408514 0.00001
NM_139318.5(KCNH5):c.429A>G (p.Thr143=) rs141293467 0.00001
NM_139318.5(KCNH5):c.500C>T (p.Thr167Met) rs771253745 0.00001
NM_139318.5(KCNH5):c.522G>C (p.Val174=) rs781693873 0.00001
NM_139318.5(KCNH5):c.550-14T>A rs568562749 0.00001
NM_139318.5(KCNH5):c.550-17C>A rs1422234778 0.00001
NM_139318.5(KCNH5):c.550G>A (p.Val184Ile) rs752609494 0.00001
NM_139318.5(KCNH5):c.606G>A (p.Thr202=) rs961145593 0.00001
NM_139318.5(KCNH5):c.73+12T>G rs369384497 0.00001
NM_139318.5(KCNH5):c.756T>C (p.Ser252=) rs754025425 0.00001
NM_139318.5(KCNH5):c.936G>T (p.Val312=) rs768010526 0.00001
NM_139318.5(KCNH5):c.942+5G>A rs1265529041 0.00001
NM_139318.5(KCNH5):c.960C>T (p.Phe320=) rs751951284 0.00001
NM_139318.5(KCNH5):c.988C>T (p.Arg330Ter) rs767049623 0.00001
NC_000014.8:g.(?_63174206)_(63269319_?)del
NC_000014.8:g.(?_63174226)_(63511904_?)del
NC_000014.8:g.(?_63174226)_(63511904_?)dup
NC_000014.8:g.(?_63511812)_(63511904_?)dup
NC_000014.8:g.(?_63511812)_(63511924_?)dup
NM_139318.5(KCNH5):c.-153A>G
NM_139318.5(KCNH5):c.1012C>T (p.Leu338=) rs2140130633
NM_139318.5(KCNH5):c.1023C>T (p.Tyr341=)
NM_139318.5(KCNH5):c.1034G>C (p.Gly345Ala)
NM_139318.5(KCNH5):c.1050G>A (p.Val350=)
NM_139318.5(KCNH5):c.1054C>T (p.Leu352=)
NM_139318.5(KCNH5):c.1063G>A (p.Val355Met) rs2140130579
NM_139318.5(KCNH5):c.106G>C (p.Val36Leu) rs138796167
NM_139318.5(KCNH5):c.1071A>G (p.Gly357=)
NM_139318.5(KCNH5):c.1074G>A (p.Leu358=)
NM_139318.5(KCNH5):c.1086G>T (p.Trp362Cys)
NM_139318.5(KCNH5):c.1087C>G (p.Leu363Val) rs2140130561
NM_139318.5(KCNH5):c.1096A>G (p.Ile366Val)
NM_139318.5(KCNH5):c.1111G>A (p.Gly371Arg)
NM_139318.5(KCNH5):c.1120G>A (p.Glu374Lys) rs1889977806
NM_139318.5(KCNH5):c.1123G>A (p.Val375Ile)
NM_139318.5(KCNH5):c.1125C>A (p.Val375=)
NM_139318.5(KCNH5):c.1127T>A (p.Ile376Asn)
NM_139318.5(KCNH5):c.1144A>G (p.Thr382Ala)
NM_139318.5(KCNH5):c.115C>T (p.Pro39Ser)
NM_139318.5(KCNH5):c.1176G>T (p.Leu392=)
NM_139318.5(KCNH5):c.1186A>G (p.Ile396Val)
NM_139318.5(KCNH5):c.1186A>T (p.Ile396Phe) rs1889976030
NM_139318.5(KCNH5):c.1187T>C (p.Ile396Thr)
NM_139318.5(KCNH5):c.1197A>G (p.Pro399=)
NM_139318.5(KCNH5):c.1199A>C (p.Tyr400Ser)
NM_139318.5(KCNH5):c.1199A>G (p.Tyr400Cys) rs2140130437
NM_139318.5(KCNH5):c.1220G>C (p.Gly407Ala) rs1889974797
NM_139318.5(KCNH5):c.1223T>G (p.Ile408Arg)
NM_139318.5(KCNH5):c.123T>G (p.Val41=) rs2139607682
NM_139318.5(KCNH5):c.1254G>A (p.Leu418=)
NM_139318.5(KCNH5):c.125A>G (p.Tyr42Cys) rs1891337268
NM_139318.5(KCNH5):c.1269C>T (p.Leu423=)
NM_139318.5(KCNH5):c.1280T>C (p.Met427Thr)
NM_139318.5(KCNH5):c.1313_1314del (p.Ile438fs)
NM_139318.5(KCNH5):c.1322C>A (p.Thr441Asn) rs189501067
NM_139318.5(KCNH5):c.1323C>T (p.Thr441=)
NM_139318.5(KCNH5):c.1332G>A (p.Val444=)
NM_139318.5(KCNH5):c.1340T>C (p.Met447Thr)
NM_139318.5(KCNH5):c.135C>T (p.Asp45=) rs561005019
NM_139318.5(KCNH5):c.1362G>A (p.Met454Ile) rs2140130309
NM_139318.5(KCNH5):c.1363G>A (p.Val455Ile) rs1224129490
NM_139318.5(KCNH5):c.1369+12A>C
NM_139318.5(KCNH5):c.1369+14T>G
NM_139318.5(KCNH5):c.1369+6T>A
NM_139318.5(KCNH5):c.1370-17C>A
NM_139318.5(KCNH5):c.1372C>T (p.Leu458Phe) rs2140045681
NM_139318.5(KCNH5):c.1376_1378del (p.Leu459_Tyr460delinsHis) rs2140045667
NM_139318.5(KCNH5):c.137G>C (p.Gly46Ala) rs756167787
NM_139318.5(KCNH5):c.137G>T (p.Gly46Val)
NM_139318.5(KCNH5):c.1382C>A (p.Ala461Glu)
NM_139318.5(KCNH5):c.1387A>G (p.Ile463Val)
NM_139318.5(KCNH5):c.1388T>C (p.Ile463Thr)
NM_139318.5(KCNH5):c.1395A>G (p.Gly465=) rs201996055
NM_139318.5(KCNH5):c.1400T>C (p.Val467Ala) rs1887769181
NM_139318.5(KCNH5):c.1402A>C (p.Thr468Pro)
NM_139318.5(KCNH5):c.1403C>A (p.Thr468Lys)
NM_139318.5(KCNH5):c.1403CAA[1] (p.Thr469del) rs2140045637
NM_139318.5(KCNH5):c.1408A>G (p.Ile470Val)
NM_139318.5(KCNH5):c.1412T>C (p.Phe471Ser)
NM_139318.5(KCNH5):c.1415A>G (p.Gln472Arg)
NM_139318.5(KCNH5):c.1429A>G (p.Asn477Asp)
NM_139318.5(KCNH5):c.1431C>T (p.Asn477=)
NM_139318.5(KCNH5):c.1438C>T (p.Arg480Ter) rs748140384
NM_139318.5(KCNH5):c.1439G>A (p.Arg480Gln)
NM_139318.5(KCNH5):c.1448del (p.Glu483fs) rs2140045596
NM_139318.5(KCNH5):c.1449G>A (p.Glu483=) rs2140045589
NM_139318.5(KCNH5):c.1450A>T (p.Met484Leu)
NM_139318.5(KCNH5):c.1461T>C (p.Asn487=) rs1268998047
NM_139318.5(KCNH5):c.1466G>A (p.Arg489Gln) rs1305159522
NM_139318.5(KCNH5):c.1473C>G (p.Phe491Leu)
NM_139318.5(KCNH5):c.1473C>T (p.Phe491=)
NM_139318.5(KCNH5):c.1485T>C (p.Tyr495=)
NM_139318.5(KCNH5):c.148C>G (p.Leu50Val)
NM_139318.5(KCNH5):c.1491C>T (p.Val497=)
NM_139318.5(KCNH5):c.1497A>G (p.Lys499=) rs2140045523
NM_139318.5(KCNH5):c.1499G>A (p.Gly500Asp) rs1566681333
NM_139318.5(KCNH5):c.1505G>T (p.Ser502Ile)
NM_139318.5(KCNH5):c.152C>G (p.Ser51Cys)
NM_139318.5(KCNH5):c.1569+16_1569+24del rs2140045429
NM_139318.5(KCNH5):c.1569+7G>C
NM_139318.5(KCNH5):c.156A>G (p.Gly52=)
NM_139318.5(KCNH5):c.1570-11A>G
NM_139318.5(KCNH5):c.1570-12C>T
NM_139318.5(KCNH5):c.1570-16C>G
NM_139318.5(KCNH5):c.1570-9C>T
NM_139318.5(KCNH5):c.1577C>T (p.Ser526Phe) rs2140000246
NM_139318.5(KCNH5):c.1622del (p.Asn541fs) rs2140000165
NM_139318.5(KCNH5):c.1630G>A (p.Val544Ile) rs1453474750
NM_139318.5(KCNH5):c.1635T>A (p.Phe545Leu)
NM_139318.5(KCNH5):c.1649C>T (p.Ala550Val)
NM_139318.5(KCNH5):c.1654C>T (p.Arg552Ter)
NM_139318.5(KCNH5):c.1665C>T (p.Ser555=)
NM_139318.5(KCNH5):c.1671G>A (p.Gly557=)
NM_139318.5(KCNH5):c.1677G>A (p.Leu559=)
NM_139318.5(KCNH5):c.1680C>A (p.Arg560=) rs114074278
NM_139318.5(KCNH5):c.1680C>G (p.Arg560=) rs114074278
NM_139318.5(KCNH5):c.1680C>T (p.Arg560=) rs114074278
NM_139318.5(KCNH5):c.1683C>A (p.Ala561=) rs2140000066
NM_139318.5(KCNH5):c.1689G>T (p.Ala563=) rs1197818518
NM_139318.5(KCNH5):c.1712G>A (p.Cys571Tyr)
NM_139318.5(KCNH5):c.1712G>C (p.Cys571Ser)
NM_139318.5(KCNH5):c.174C>A (p.Val58=)
NM_139318.5(KCNH5):c.174C>T (p.Val58=) rs938893274
NM_139318.5(KCNH5):c.1791C>T (p.Val597=)
NM_139318.5(KCNH5):c.1792A>G (p.Ile598Val) rs1886679317
NM_139318.5(KCNH5):c.1794C>A (p.Ile598=)
NM_139318.5(KCNH5):c.1802A>G (p.Asp601Gly) rs2139999949
NM_139318.5(KCNH5):c.1807del (p.Val603fs) rs2139999944
NM_139318.5(KCNH5):c.1808T>G (p.Val603Gly)
NM_139318.5(KCNH5):c.1819T>C (p.Leu607=)
NM_139318.5(KCNH5):c.1822+11C>G rs2139999911
NM_139318.5(KCNH5):c.1822+14T>C rs776080155
NM_139318.5(KCNH5):c.1822+18A>G
NM_139318.5(KCNH5):c.1822+3A>G rs1886679041
NM_139318.5(KCNH5):c.1822+5T>C
NM_139318.5(KCNH5):c.1823-11C>A
NM_139318.5(KCNH5):c.1823-15T>C
NM_139318.5(KCNH5):c.1823-17C>G
NM_139318.5(KCNH5):c.1823-18T>A
NM_139318.5(KCNH5):c.1823-5del rs1367114879
NM_139318.5(KCNH5):c.184A>T (p.Ser62Cys)
NM_139318.5(KCNH5):c.1857G>A (p.Lys619=)
NM_139318.5(KCNH5):c.1866C>G (p.Thr622=)
NM_139318.5(KCNH5):c.1869T>A (p.Leu623=)
NM_139318.5(KCNH5):c.1871C>G (p.Ala624Gly) rs762614737
NM_139318.5(KCNH5):c.1875T>C (p.His625=)
NM_139318.5(KCNH5):c.1876G>A (p.Ala626Thr)
NM_139318.5(KCNH5):c.1878A>G (p.Ala626=) rs1886172630
NM_139318.5(KCNH5):c.1885A>G (p.Asn629Asp)
NM_139318.5(KCNH5):c.188G>T (p.Ser63Ile)
NM_139318.5(KCNH5):c.1893G>C (p.Arg631=)
NM_139318.5(KCNH5):c.1906T>A (p.Cys636Ser)
NM_139318.5(KCNH5):c.190A>G (p.Thr64Ala)
NM_139318.5(KCNH5):c.1926G>T (p.Lys642Asn) rs2139975486
NM_139318.5(KCNH5):c.1927C>G (p.Arg643Gly) rs771984476
NM_139318.5(KCNH5):c.1927C>T (p.Arg643Trp)
NM_139318.5(KCNH5):c.1928G>A (p.Arg643Gln)
NM_139318.5(KCNH5):c.1929G>A (p.Arg643=)
NM_139318.5(KCNH5):c.1932A>G (p.Glu644=)
NM_139318.5(KCNH5):c.1934C>T (p.Ala645Val)
NM_139318.5(KCNH5):c.1939C>T (p.Leu647Phe)
NM_139318.5(KCNH5):c.1959T>C (p.Tyr653=)
NM_139318.5(KCNH5):c.197+6T>G rs2139607542
NM_139318.5(KCNH5):c.197+7A>T
NM_139318.5(KCNH5):c.1970C>T (p.Ala657Val) rs143775193
NM_139318.5(KCNH5):c.198-10del rs36103415
NM_139318.5(KCNH5):c.198-11T>C
NM_139318.5(KCNH5):c.198-12T>C
NM_139318.5(KCNH5):c.198-14T>C
NM_139318.5(KCNH5):c.198-15T>C
NM_139318.5(KCNH5):c.198-17T>G
NM_139318.5(KCNH5):c.198-17dup rs36103415
NM_139318.5(KCNH5):c.198-18_198-15del rs758368839
NM_139318.5(KCNH5):c.198-19T>C
NM_139318.5(KCNH5):c.198-3C>A rs2139597547
NM_139318.5(KCNH5):c.198-3del rs752865520
NM_139318.5(KCNH5):c.198-5C>T
NM_139318.5(KCNH5):c.198-7C>G
NM_139318.5(KCNH5):c.198-9C>T
NM_139318.5(KCNH5):c.198-9dup rs752865520
NM_139318.5(KCNH5):c.1983A>T (p.Ser661=) rs1470600869
NM_139318.5(KCNH5):c.1985G>A (p.Arg662Lys) rs1382406226
NM_139318.5(KCNH5):c.1993A>T (p.Thr665Ser) rs2139975358
NM_139318.5(KCNH5):c.2001T>C (p.Thr667=)
NM_139318.5(KCNH5):c.2001T>G (p.Thr667=)
NM_139318.5(KCNH5):c.2006A>G (p.Asn669Ser)
NM_139318.5(KCNH5):c.2018G>A (p.Arg673Gln)
NM_139318.5(KCNH5):c.2019+13G>T
NM_139318.5(KCNH5):c.2019+15T>C
NM_139318.5(KCNH5):c.2019+7T>C
NM_139318.5(KCNH5):c.2019G>A (p.Arg673=)
NM_139318.5(KCNH5):c.2020-15T>C rs1276632605
NM_139318.5(KCNH5):c.2020-18A>C rs748404574
NM_139318.5(KCNH5):c.2020-18A>G rs748404574
NM_139318.5(KCNH5):c.2020-4A>G
NM_139318.5(KCNH5):c.2020-6C>T
NM_139318.5(KCNH5):c.2020-9G>A
NM_139318.5(KCNH5):c.2022C>T (p.Ile674=)
NM_139318.5(KCNH5):c.2026T>G (p.Phe676Val)
NM_139318.5(KCNH5):c.2029C>G (p.Arg677Gly)
NM_139318.5(KCNH5):c.2029C>T (p.Arg677Cys)
NM_139318.5(KCNH5):c.2030G>T (p.Arg677Leu)
NM_139318.5(KCNH5):c.2039G>T (p.Ser680Ile)
NM_139318.5(KCNH5):c.2040T>C (p.Ser680=)
NM_139318.5(KCNH5):c.205T>C (p.Tyr69His)
NM_139318.5(KCNH5):c.2063A>T (p.Glu688Val)
NM_139318.5(KCNH5):c.2068C>G (p.Leu690Val)
NM_139318.5(KCNH5):c.2069T>G (p.Leu690Arg) rs1884490758
NM_139318.5(KCNH5):c.2071C>T (p.Arg691Trp) rs1313204598
NM_139318.5(KCNH5):c.2072G>T (p.Arg691Leu) rs200737420
NM_139318.5(KCNH5):c.2079G>A (p.Lys693=) rs1217652797
NM_139318.5(KCNH5):c.2085G>A (p.Glu695=)
NM_139318.5(KCNH5):c.2095A>G (p.Ser699Gly) rs1360641528
NM_139318.5(KCNH5):c.2106G>A (p.Val702=)
NM_139318.5(KCNH5):c.2109C>T (p.Asp703=)
NM_139318.5(KCNH5):c.210G>A (p.Gly70=)
NM_139318.5(KCNH5):c.2114C>G (p.Pro705Arg) rs1060502866
NM_139318.5(KCNH5):c.212A>G (p.Glu71Gly) rs2139597525
NM_139318.5(KCNH5):c.2133G>A (p.Gln711=)
NM_139318.5(KCNH5):c.2138T>A (p.Phe713Tyr)
NM_139318.5(KCNH5):c.2147A>C (p.Gln716Pro)
NM_139318.5(KCNH5):c.2151G>A (p.Lys717=)
NM_139318.5(KCNH5):c.2156T>C (p.Leu719Pro)
NM_139318.5(KCNH5):c.2158C>T (p.Arg720Trp)
NM_139318.5(KCNH5):c.215T>C (p.Leu72Ser)
NM_139318.5(KCNH5):c.2166G>T (p.Gln722His) rs2139899426
NM_139318.5(KCNH5):c.2171C>T (p.Ser724Leu)
NM_139318.5(KCNH5):c.2178G>A (p.Gln726=) rs2139899405
NM_139318.5(KCNH5):c.2178G>C (p.Gln726His)
NM_139318.5(KCNH5):c.2179_2181delinsCAC (p.Gly727His)
NM_139318.5(KCNH5):c.2181T>A (p.Gly727=) rs750428271
NM_139318.5(KCNH5):c.2184C>T (p.Asp728=)
NM_139318.5(KCNH5):c.2185C>G (p.Pro729Ala)
NM_139318.5(KCNH5):c.2195A>G (p.Asn732Ser)
NM_139318.5(KCNH5):c.2204A>G (p.Gln735Arg)
NM_139318.5(KCNH5):c.2211G>C (p.Glu737Asp) rs1050337000
NM_139318.5(KCNH5):c.2214C>T (p.Ser738=)
NM_139318.5(KCNH5):c.2216G>A (p.Arg739His)
NM_139318.5(KCNH5):c.2217C>G (p.Arg739=)
NM_139318.5(KCNH5):c.2227A>G (p.Asn743Asp)
NM_139318.5(KCNH5):c.2242A>T (p.Thr748Ser) rs751206598
NM_139318.5(KCNH5):c.2245G>A (p.Gly749Arg)
NM_139318.5(KCNH5):c.2252G>A (p.Ser751Asn) rs1163598482
NM_139318.5(KCNH5):c.2254G>A (p.Val752Met)
NM_139318.5(KCNH5):c.2257G>T (p.Val753Leu)
NM_139318.5(KCNH5):c.226A>G (p.Lys76Glu)
NM_139318.5(KCNH5):c.2272A>G (p.Ile758Val)
NM_139318.5(KCNH5):c.2280C>A (p.Pro760=)
NM_139318.5(KCNH5):c.2280C>T (p.Pro760=) rs1196313969
NM_139318.5(KCNH5):c.2284C>G (p.Gln762Glu)
NM_139318.5(KCNH5):c.2290T>C (p.Ser764Pro)
NM_139318.5(KCNH5):c.229A>G (p.Thr77Ala) rs1365308454
NM_139318.5(KCNH5):c.22C>T (p.Leu8=)
NM_139318.5(KCNH5):c.2300A>G (p.Tyr767Cys)
NM_139318.5(KCNH5):c.2303T>G (p.Val768Gly) rs2139899216
NM_139318.5(KCNH5):c.2309C>A (p.Thr770Asn) rs1555351942
NM_139318.5(KCNH5):c.2321T>C (p.Leu774Pro)
NM_139318.5(KCNH5):c.2335C>A (p.Arg779Ser) rs200292403
NM_139318.5(KCNH5):c.2341G>A (p.Ala781Thr) rs1595587605
NM_139318.5(KCNH5):c.2342C>T (p.Ala781Val)
NM_139318.5(KCNH5):c.2344A>G (p.Met782Val) rs1424974763
NM_139318.5(KCNH5):c.2347G>A (p.Glu783Lys) rs373967609
NM_139318.5(KCNH5):c.2356C>G (p.Pro786Ala)
NM_139318.5(KCNH5):c.2359A>G (p.Asn787Asp)
NM_139318.5(KCNH5):c.2365G>A (p.Gly789Ser) rs140205536
NM_139318.5(KCNH5):c.2365G>T (p.Gly789Cys) rs140205536
NM_139318.5(KCNH5):c.2371G>A (p.Asp791Asn)
NM_139318.5(KCNH5):c.2382T>G (p.Cys794Trp) rs1884478264
NM_139318.5(KCNH5):c.2407A>G (p.Met803Val) rs1884477605
NM_139318.5(KCNH5):c.2410A>C (p.Lys804Gln)
NM_139318.5(KCNH5):c.2415T>C (p.Asn805=)
NM_139318.5(KCNH5):c.2428G>C (p.Gly810Arg)
NM_139318.5(KCNH5):c.2436G>A (p.Leu812=) rs1884476768
NM_139318.5(KCNH5):c.2437C>T (p.Arg813Ter)
NM_139318.5(KCNH5):c.2441T>C (p.Leu814Pro)
NM_139318.5(KCNH5):c.2445G>A (p.Lys815=) rs1253510688
NM_139318.5(KCNH5):c.2446A>G (p.Asn816Asp)
NM_139318.5(KCNH5):c.2448T>A (p.Asn816Lys)
NM_139318.5(KCNH5):c.2449A>G (p.Asn817Asp)
NM_139318.5(KCNH5):c.244A>C (p.Arg82=) rs1594671813
NM_139318.5(KCNH5):c.2463T>C (p.His821=)
NM_139318.5(KCNH5):c.2469G>A (p.Glu823=) rs751823732
NM_139318.5(KCNH5):c.2471A>G (p.Lys824Arg)
NM_139318.5(KCNH5):c.2471A>T (p.Lys824Ile)
NM_139318.5(KCNH5):c.247C>T (p.Gln83Ter)
NM_139318.5(KCNH5):c.2481C>A (p.Asp827Glu)
NM_139318.5(KCNH5):c.2481C>G (p.Asp827Glu)
NM_139318.5(KCNH5):c.2481C>T (p.Asp827=)
NM_139318.5(KCNH5):c.2494A>C (p.Thr832Pro)
NM_139318.5(KCNH5):c.2509A>G (p.Met837Val)
NM_139318.5(KCNH5):c.2510T>C (p.Met837Thr)
NM_139318.5(KCNH5):c.2514G>A (p.Gly838=)
NM_139318.5(KCNH5):c.2515C>T (p.Leu839=) rs1555351912
NM_139318.5(KCNH5):c.2517A>G (p.Leu839=)
NM_139318.5(KCNH5):c.2527G>A (p.Asp843Asn)
NM_139318.5(KCNH5):c.2529C>T (p.Asp843=)
NM_139318.5(KCNH5):c.2535G>C (p.Lys845Asn)
NM_139318.5(KCNH5):c.253T>C (p.Phe85Leu)
NM_139318.5(KCNH5):c.2548G>A (p.Glu850Lys)
NM_139318.5(KCNH5):c.2549A>G (p.Glu850Gly)
NM_139318.5(KCNH5):c.2555G>A (p.Ser852Asn)
NM_139318.5(KCNH5):c.2561C>T (p.Thr854Ile) rs2139898851
NM_139318.5(KCNH5):c.2574A>G (p.Leu858=)
NM_139318.5(KCNH5):c.2582C>G (p.Thr861Arg)
NM_139318.5(KCNH5):c.2584G>C (p.Asp862His)
NM_139318.5(KCNH5):c.2585A>G (p.Asp862Gly) rs1595587388
NM_139318.5(KCNH5):c.2591G>A (p.Cys864Tyr) rs1595587379
NM_139318.5(KCNH5):c.2594A>G (p.Asp865Gly)
NM_139318.5(KCNH5):c.259A>C (p.Asn87His)
NM_139318.5(KCNH5):c.2606C>T (p.Thr869Ile)
NM_139318.5(KCNH5):c.2615A>G (p.Asp872Gly)
NM_139318.5(KCNH5):c.2618T>C (p.Leu873Pro)
NM_139318.5(KCNH5):c.2621G>A (p.Arg874His)
NM_139318.5(KCNH5):c.2628T>C (p.Asp876=) rs951928918
NM_139318.5(KCNH5):c.2630A>G (p.Lys877Arg)
NM_139318.5(KCNH5):c.2632G>A (p.Ala878Thr) rs376837885
NM_139318.5(KCNH5):c.2632G>T (p.Ala878Ser) rs376837885
NM_139318.5(KCNH5):c.2637G>A (p.Gly879=)
NM_139318.5(KCNH5):c.2641G>A (p.Ala881Thr)
NM_139318.5(KCNH5):c.2641G>T (p.Ala881Ser)
NM_139318.5(KCNH5):c.2642C>T (p.Ala881Val) rs2139898764
NM_139318.5(KCNH5):c.2644C>T (p.Arg882Ter) rs1451729920
NM_139318.5(KCNH5):c.2645G>A (p.Arg882Gln)
NM_139318.5(KCNH5):c.2648G>A (p.Ser883Asn)
NM_139318.5(KCNH5):c.265G>C (p.Glu89Gln) rs1162818997
NM_139318.5(KCNH5):c.2661C>T (p.His887=) rs931481107
NM_139318.5(KCNH5):c.2662A>G (p.Ser888Gly)
NM_139318.5(KCNH5):c.2666C>G (p.Pro889Arg)
NM_139318.5(KCNH5):c.2673G>A (p.Gln891=) rs2139898715
NM_139318.5(KCNH5):c.2677G>A (p.Asp893Asn)
NM_139318.5(KCNH5):c.2680G>A (p.Ala894Thr)
NM_139318.5(KCNH5):c.2689C>T (p.Pro897Ser) rs1393650655
NM_139318.5(KCNH5):c.2690C>A (p.Pro897His)
NM_139318.5(KCNH5):c.2702T>C (p.Ile901Thr)
NM_139318.5(KCNH5):c.2704C>G (p.Pro902Ala) rs757688048
NM_139318.5(KCNH5):c.2704C>T (p.Pro902Ser) rs757688048
NM_139318.5(KCNH5):c.2706C>G (p.Pro902=) rs147205656
NM_139318.5(KCNH5):c.2706C>T (p.Pro902=) rs147205656
NM_139318.5(KCNH5):c.2707G>T (p.Glu903Ter)
NM_139318.5(KCNH5):c.2711A>G (p.Gln904Arg)
NM_139318.5(KCNH5):c.2713G>C (p.Ala905Pro)
NM_139318.5(KCNH5):c.2713G>T (p.Ala905Ser)
NM_139318.5(KCNH5):c.2716T>C (p.Leu906=) rs2139898635
NM_139318.5(KCNH5):c.2722A>T (p.Thr908Ser)
NM_139318.5(KCNH5):c.2725A>C (p.Thr909Pro) rs1884466924
NM_139318.5(KCNH5):c.2734G>A (p.Glu912Lys)
NM_139318.5(KCNH5):c.2748A>G (p.Glu916=) rs1368591415
NM_139318.5(KCNH5):c.2749C>T (p.Leu917Phe)
NM_139318.5(KCNH5):c.2761A>T (p.Ile921Phe)
NM_139318.5(KCNH5):c.2769G>A (p.Leu923=) rs1332018030
NM_139318.5(KCNH5):c.2786C>G (p.Thr929Ser)
NM_139318.5(KCNH5):c.2787T>G (p.Thr929=)
NM_139318.5(KCNH5):c.2789C>A (p.Ala930Asp) rs562140660
NM_139318.5(KCNH5):c.2791C>G (p.Leu931Val)
NM_139318.5(KCNH5):c.2793A>G (p.Leu931=)
NM_139318.5(KCNH5):c.2797A>G (p.Lys933Glu)
NM_139318.5(KCNH5):c.2803G>A (p.Val935Met)
NM_139318.5(KCNH5):c.2804T>C (p.Val935Ala)
NM_139318.5(KCNH5):c.2812A>G (p.Ile938Val) rs375347137
NM_139318.5(KCNH5):c.2817A>G (p.Leu939=)
NM_139318.5(KCNH5):c.2822T>C (p.Ile941Thr)
NM_139318.5(KCNH5):c.2825T>C (p.Leu942Pro)
NM_139318.5(KCNH5):c.282A>G (p.Glu94=)
NM_139318.5(KCNH5):c.2830G>A (p.Glu944Lys) rs1259576590
NM_139318.5(KCNH5):c.2831A>T (p.Glu944Val) rs2139898468
NM_139318.5(KCNH5):c.2833A>G (p.Lys945Glu) rs1566633488
NM_139318.5(KCNH5):c.2839G>A (p.Val947Ile)
NM_139318.5(KCNH5):c.2846A>C (p.Gln949Pro) rs2139898414
NM_139318.5(KCNH5):c.2847G>A (p.Gln949=)
NM_139318.5(KCNH5):c.2855C>T (p.Ser952Phe)
NM_139318.5(KCNH5):c.2859C>T (p.Pro953=)
NM_139318.5(KCNH5):c.2860A>G (p.Lys954Glu) rs1884461774
NM_139318.5(KCNH5):c.2866C>A (p.Gln956Lys)
NM_139318.5(KCNH5):c.2878C>T (p.Gln960Ter)
NM_139318.5(KCNH5):c.2885C>T (p.Pro962Leu)
NM_139318.5(KCNH5):c.2888C>T (p.Pro963Leu)
NM_139318.5(KCNH5):c.2889C>A (p.Pro963=) rs148200469
NM_139318.5(KCNH5):c.2889C>G (p.Pro963=)
NM_139318.5(KCNH5):c.2889C>T (p.Pro963=) rs148200469
NM_139318.5(KCNH5):c.2890C>A (p.Gln964Lys) rs753525158
NM_139318.5(KCNH5):c.2890C>G (p.Gln964Glu) rs753525158
NM_139318.5(KCNH5):c.2890del (p.Gln964fs)
NM_139318.5(KCNH5):c.2890dup (p.Gln964fs) rs35940222
NM_139318.5(KCNH5):c.2913T>C (p.Phe971=)
NM_139318.5(KCNH5):c.2921C>G (p.Ser974Ter)
NM_139318.5(KCNH5):c.2927C>T (p.Pro976Leu) rs2139898259
NM_139318.5(KCNH5):c.2935C>T (p.Pro979Ser)
NM_139318.5(KCNH5):c.2936C>T (p.Pro979Leu)
NM_139318.5(KCNH5):c.2942C>T (p.Ser981Phe)
NM_139318.5(KCNH5):c.2948A>G (p.Lys983Arg) rs1271834396
NM_139318.5(KCNH5):c.294C>G (p.Tyr98Ter)
NM_139318.5(KCNH5):c.294C>T (p.Tyr98=) rs1891125928
NM_139318.5(KCNH5):c.2951A>T (p.Asp984Val) rs1566633394
NM_139318.5(KCNH5):c.2954A>T (p.Glu985Val)
NM_139318.5(KCNH5):c.304+11C>T
NM_139318.5(KCNH5):c.304+13A>G rs1891125114
NM_139318.5(KCNH5):c.304+17_304+19del
NM_139318.5(KCNH5):c.304+19A>G
NM_139318.5(KCNH5):c.304+1G>A
NM_139318.5(KCNH5):c.304+3A>G
NM_139318.5(KCNH5):c.304+4G>A rs750807814
NM_139318.5(KCNH5):c.304+7A>G
NM_139318.5(KCNH5):c.305-14del rs767722355
NM_139318.5(KCNH5):c.305-16C>T
NM_139318.5(KCNH5):c.305-3C>T rs1249146991
NM_139318.5(KCNH5):c.306A>G (p.Arg102=)
NM_139318.5(KCNH5):c.309C>A (p.Thr103=)
NM_139318.5(KCNH5):c.30A>G (p.Ala10=)
NM_139318.5(KCNH5):c.315T>A (p.Val105=)
NM_139318.5(KCNH5):c.318G>T (p.Trp106Cys)
NM_139318.5(KCNH5):c.323A>G (p.Tyr108Cys) rs1464940813
NM_139318.5(KCNH5):c.330A>G (p.Gln110=)
NM_139318.5(KCNH5):c.333T>C (p.Ile111=) rs1349107141
NM_139318.5(KCNH5):c.338C>T (p.Pro113Leu)
NM_139318.5(KCNH5):c.345A>G (p.Arg115=)
NM_139318.5(KCNH5):c.354T>C (p.His118=) rs2139591254
NM_139318.5(KCNH5):c.356A>G (p.Glu119Gly) rs2139591249
NM_139318.5(KCNH5):c.372C>A (p.Phe124Leu)
NM_139318.5(KCNH5):c.379A>G (p.Thr127Ala)
NM_139318.5(KCNH5):c.394A>T (p.Thr132Ser)
NM_139318.5(KCNH5):c.396G>C (p.Thr132=)
NM_139318.5(KCNH5):c.399G>T (p.Leu133Phe)
NM_139318.5(KCNH5):c.409C>A (p.Pro137Thr)
NM_139318.5(KCNH5):c.411A>G (p.Pro137=)
NM_139318.5(KCNH5):c.422A>C (p.Asp141Ala) rs1891006879
NM_139318.5(KCNH5):c.433+16del
NM_139318.5(KCNH5):c.433+5T>C
NM_139318.5(KCNH5):c.433+9_433+10insAACAAAAGGTAATTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGG
NM_139318.5(KCNH5):c.434-12C>A
NM_139318.5(KCNH5):c.434-16T>C
NM_139318.5(KCNH5):c.434-17C>G
NM_139318.5(KCNH5):c.434-18T>C
NM_139318.5(KCNH5):c.434-2A>C rs1890726221
NM_139318.5(KCNH5):c.434-8T>C
NM_139318.5(KCNH5):c.435T>G (p.Gly145=)
NM_139318.5(KCNH5):c.451C>T (p.Arg151Ter) rs1425163380
NM_139318.5(KCNH5):c.462G>A (p.Arg154=) rs2139575338
NM_139318.5(KCNH5):c.463G>A (p.Ala155Thr) rs2139575336
NM_139318.5(KCNH5):c.46T>C (p.Leu16=)
NM_139318.5(KCNH5):c.472A>G (p.Asn158Asp)
NM_139318.5(KCNH5):c.474T>G (p.Asn158Lys) rs1890724757
NM_139318.5(KCNH5):c.476G>C (p.Ser159Thr) rs759714263
NM_139318.5(KCNH5):c.478C>A (p.Arg160=)
NM_139318.5(KCNH5):c.478C>T (p.Arg160Ter)
NM_139318.5(KCNH5):c.479G>A (p.Arg160Gln) rs148002630
NM_139318.5(KCNH5):c.488T>C (p.Leu163Ser) rs2139575303
NM_139318.5(KCNH5):c.491A>G (p.Gln164Arg)
NM_139318.5(KCNH5):c.492_493del (p.Gln165fs)
NM_139318.5(KCNH5):c.505A>G (p.Met169Val)
NM_139318.5(KCNH5):c.515C>A (p.Thr172Lys)
NM_139318.5(KCNH5):c.519G>A (p.Glu173=)
NM_139318.5(KCNH5):c.520G>A (p.Val174Met)
NM_139318.5(KCNH5):c.533A>G (p.His178Arg) rs2139575209
NM_139318.5(KCNH5):c.53A>T (p.Asn18Ile)
NM_139318.5(KCNH5):c.545C>G (p.Ala182Gly) rs2139575198
NM_139318.5(KCNH5):c.549+17T>A rs1950975
NM_139318.5(KCNH5):c.549+6T>C rs1321587047
NM_139318.5(KCNH5):c.550-13T>G
NM_139318.5(KCNH5):c.550-15T>G
NM_139318.5(KCNH5):c.550-17C>T rs1422234778
NM_139318.5(KCNH5):c.550-1G>C
NM_139318.5(KCNH5):c.550-21_550-18del rs766820445
NM_139318.5(KCNH5):c.550-7C>G rs1321418069
NM_139318.5(KCNH5):c.550-9C>G rs374202650
NM_139318.5(KCNH5):c.550-9C>T
NM_139318.5(KCNH5):c.553C>T (p.Leu185Phe) rs780855852
NM_139318.5(KCNH5):c.558G>C (p.Gln186His)
NM_139318.5(KCNH5):c.566C>G (p.Ser189Ter) rs1381625125
NM_139318.5(KCNH5):c.566C>T (p.Ser189Leu) rs1381625125
NM_139318.5(KCNH5):c.568dup (p.Asp190fs)
NM_139318.5(KCNH5):c.581A>G (p.Gln194Arg) rs2139568664
NM_139318.5(KCNH5):c.589C>T (p.Gln197Ter) rs1555366656
NM_139318.5(KCNH5):c.597G>A (p.Ala199=)
NM_139318.5(KCNH5):c.597G>C (p.Ala199=)
NM_139318.5(KCNH5):c.597G>T (p.Ala199=) rs114341754
NM_139318.5(KCNH5):c.606G>T (p.Thr202=)
NM_139318.5(KCNH5):c.610C>T (p.Pro204Ser) rs1165675846
NM_139318.5(KCNH5):c.611C>T (p.Pro204Leu) rs776842795
NM_139318.5(KCNH5):c.630T>C (p.Tyr210=)
NM_139318.5(KCNH5):c.636T>A (p.Ala212=)
NM_139318.5(KCNH5):c.643A>T (p.Thr215Ser)
NM_139318.5(KCNH5):c.645T>C (p.Thr215=)
NM_139318.5(KCNH5):c.646A>G (p.Thr216Ala)
NM_139318.5(KCNH5):c.648T>C (p.Thr216=) rs775889528
NM_139318.5(KCNH5):c.65G>A (p.Arg22His)
NM_139318.5(KCNH5):c.660G>A (p.Val220=)
NM_139318.5(KCNH5):c.665dup (p.Leu222fs) rs2139568568
NM_139318.5(KCNH5):c.66C>T (p.Arg22=)
NM_139318.5(KCNH5):c.676T>G (p.Phe226Val) rs772687794
NM_139318.5(KCNH5):c.678C>T (p.Phe226=)
NM_139318.5(KCNH5):c.684C>T (p.Thr228=)
NM_139318.5(KCNH5):c.68C>T (p.Ser23Phe) rs2139638415
NM_139318.5(KCNH5):c.691A>G (p.Met231Val)
NM_139318.5(KCNH5):c.6G>T (p.Pro2=) rs141970580
NM_139318.5(KCNH5):c.719C>G (p.Thr240Arg)
NM_139318.5(KCNH5):c.720A>G (p.Thr240=)
NM_139318.5(KCNH5):c.727A>T (p.Asn243Tyr)
NM_139318.5(KCNH5):c.729C>T (p.Asn243=) rs2139568497
NM_139318.5(KCNH5):c.73+16G>A
NM_139318.5(KCNH5):c.73+19C>G
NM_139318.5(KCNH5):c.731A>G (p.Asn244Ser)
NM_139318.5(KCNH5):c.733A>T (p.Ile245Leu) rs754761406
NM_139318.5(KCNH5):c.74-17dup rs768346675
NM_139318.5(KCNH5):c.74-7T>G
NM_139318.5(KCNH5):c.741G>A (p.Trp247Ter)
NM_139318.5(KCNH5):c.748C>A (p.Leu250Met)
NM_139318.5(KCNH5):c.765C>A (p.Asp255Glu)
NM_139318.5(KCNH5):c.786C>T (p.Ile262=) rs2139568391
NM_139318.5(KCNH5):c.787G>A (p.Val263Ile) rs760127525
NM_139318.5(KCNH5):c.811G>C (p.Val271Leu)
NM_139318.5(KCNH5):c.816_817delinsAT (p.Pro273Ser)
NM_139318.5(KCNH5):c.820G>A (p.Gly274Ser) rs182494425
NM_139318.5(KCNH5):c.825A>G (p.Gly275=)
NM_139318.5(KCNH5):c.844A>G (p.Lys282Glu)
NM_139318.5(KCNH5):c.854G>A (p.Arg285Lys)
NM_139318.5(KCNH5):c.859A>T (p.Asn287Tyr)
NM_139318.5(KCNH5):c.885C>T (p.Ile295=)
NM_139318.5(KCNH5):c.888T>C (p.Asp296=)
NM_139318.5(KCNH5):c.894G>A (p.Leu298=) rs142927077
NM_139318.5(KCNH5):c.894G>C (p.Leu298=) rs142927077
NM_139318.5(KCNH5):c.908A>G (p.Tyr303Cys)
NM_139318.5(KCNH5):c.912C>G (p.Asp304Glu)
NM_139318.5(KCNH5):c.913A>G (p.Ile305Val) rs2139568205
NM_139318.5(KCNH5):c.918C>T (p.Ile306=)
NM_139318.5(KCNH5):c.919A>G (p.Asn307Asp)
NM_139318.5(KCNH5):c.932dup (p.Asn311fs) rs1566729319
NM_139318.5(KCNH5):c.942+10dup rs769498088
NM_139318.5(KCNH5):c.942+11C>T
NM_139318.5(KCNH5):c.942+12G>A
NM_139318.5(KCNH5):c.942+16T>C
NM_139318.5(KCNH5):c.943-16T>C rs2140130723
NM_139318.5(KCNH5):c.943-5T>A
NM_139318.5(KCNH5):c.944G>A (p.Gly315Glu)
NM_139318.5(KCNH5):c.950G>C (p.Ser317Thr)
NM_139318.5(KCNH5):c.953G>A (p.Ser318Asn)
NM_139318.5(KCNH5):c.975G>T (p.Val325=) rs1451342604
NM_139318.5(KCNH5):c.979C>A (p.Arg327Ser)
NM_139318.5(KCNH5):c.979C>T (p.Arg327Cys) rs1164997707
NM_139318.5(KCNH5):c.980G>A (p.Arg327His) rs587777164
NM_139318.5(KCNH5):c.987A>T (p.Leu329Phe) rs2140130662
NM_139318.5(KCNH5):c.998G>A (p.Arg333His) rs1383017734

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.