Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150947372_150953685dupCA2580614280KCNH2n.1962-831_3942dup
c.1129-831_3109dup
c.109-831_2089dup
c.829-831_2809dup
c.979-831_2959dup
c.952-831_2932dup
7g.150952457_150952484delinsCGAAGGGGATGGCGGCCACCATGTCGATCA1752411506KCNH2n.796_823delinsATCGACATGGTGGCCGCCATCCCCTTCG
n.391_418delinsATCGACATGGTGGCCGCCATCCCCTTCG
n.2331_2358delinsATCGACATGGTGGCCGCCATCCCCTTCG
c.1498_1525delinsATCGACATGGTGGCCGCCATCCCCTTCG (p.Ile500=)
c.478_505delinsATCGACATGGTGGCCGCCATCCCCTTCG (p.Ile160=)
c.1150_1177delinsATCGACATGGTGGCCGCCATCCCCTTCG (p.Ile384=)
n.785_812delinsATCGACATGGTGGCCGCCATCCCCTTCG
n.803_830delinsATCGACATGGTGGCCGCCATCCCCTTCG
n.1721_1748delinsATCGACATGGTGGCCGCCATCCCCTTCG
c.1198_1225delinsATCGACATGGTGGCCGCCATCCCCTTCG (p.Ile400=)
c.1348_1375delinsATCGACATGGTGGCCGCCATCCCCTTCG (p.Ile450=)
c.1321_1348delinsATCGACATGGTGGCCGCCATCCCCTTCG (p.Ile441=)
7g.150952460_150952486delCA004721KCNH2n.796_822del
n.391_417del
n.2331_2357del
c.1498_1524del (p.Ile500_Phe508del)
c.478_504del (p.Ile160_Phe168del)
c.1150_1176del (p.Ile384_Phe392del)
n.785_811del
n.803_829del
n.1721_1747del
c.1198_1224del (p.Ile400_Phe408del)
c.1348_1374del (p.Ile450_Phe458del)
c.1321_1347del (p.Ile441_Phe449del)
 ClinVar dbSNP
7g.150952468G>ACA028253KCNH2n.812C>T
n.407C>T
n.2347C>T
c.1514C>T (p.Ala505Val)
c.494C>T (p.Ala165Val)
c.1166C>T (p.Ala389Val)
n.801C>T
n.819C>T
n.1737C>T
c.1214C>T (p.Ala405Val)
c.1364C>T (p.Ala455Val)
c.1337C>T (p.Ala446Val)
 dbSNP ExAC gnomAD v2
7g.150952468G>CCA369859566KCNH2n.812C>G
n.407C>G
n.2347C>G
c.1514C>G (p.Ala505Gly)
c.494C>G (p.Ala165Gly)
c.1166C>G (p.Ala389Gly)
n.801C>G
n.819C>G
n.1737C>G
c.1214C>G (p.Ala405Gly)
c.1364C>G (p.Ala455Gly)
c.1337C>G (p.Ala446Gly)
7g.150952468G=CA1752411546KCNH2n.812C=
n.407C=
n.2347C=
c.1514C= (p.Ala505=)
c.494C= (p.Ala165=)
c.1166C= (p.Ala389=)
n.801C=
n.819C=
n.1737C=
c.1214C= (p.Ala405=)
c.1364C= (p.Ala455=)
c.1337C= (p.Ala446=)
7g.150952468G>TCA369859563KCNH2n.812C>A
n.407C>A
n.2347C>A
c.1514C>A (p.Ala505Asp)
c.494C>A (p.Ala165Asp)
c.1166C>A (p.Ala389Asp)
n.801C>A
n.819C>A
n.1737C>A
c.1214C>A (p.Ala405Asp)
c.1364C>A (p.Ala455Asp)
c.1337C>A (p.Ala446Asp)
7g.150952468_150952469delinsGCCA1752411548KCNH2n.811_812delinsGC
n.406_407delinsGC
n.2346_2347delinsGC
c.1513_1514delinsGC (p.Ala505=)
c.493_494delinsGC (p.Ala165=)
c.1165_1166delinsGC (p.Ala389=)
n.800_801delinsGC
n.818_819delinsGC
n.1736_1737delinsGC
c.1213_1214delinsGC (p.Ala405=)
c.1363_1364delinsGC (p.Ala455=)
c.1336_1337delinsGC (p.Ala446=)
7g.150952469delCA16618411KCNH2n.811del
n.406del
n.2346del
c.1513del (p.Ala505ProfsTer16)
c.493del (p.Ala165ProfsTer16)
c.1165del (p.Ala389ProfsTer16)
n.800del
n.818del
n.1736del
c.1213del (p.Ala405ProfsTer16)
c.1363del (p.Ala455ProfsTer16)
c.1336del (p.Ala446ProfsTer16)
 ClinVar dbSNP
7g.150952469C>ACA369859568KCNH2n.811G>T
n.406G>T
n.2346G>T
c.1513G>T (p.Ala505Ser)
c.493G>T (p.Ala165Ser)
c.1165G>T (p.Ala389Ser)
n.800G>T
n.818G>T
n.1736G>T
c.1213G>T (p.Ala405Ser)
c.1363G>T (p.Ala455Ser)
c.1336G>T (p.Ala446Ser)
7g.150952469C>GCA369859570KCNH2n.811G>C
n.406G>C
n.2346G>C
c.1513G>C (p.Ala505Pro)
c.493G>C (p.Ala165Pro)
c.1165G>C (p.Ala389Pro)
n.800G>C
n.818G>C
n.1736G>C
c.1213G>C (p.Ala405Pro)
c.1363G>C (p.Ala455Pro)
c.1336G>C (p.Ala446Pro)
7g.150952469C>TCA369859572KCNH2n.811G>A
n.406G>A
n.2346G>A
c.1513G>A (p.Ala505Thr)
c.493G>A (p.Ala165Thr)
c.1165G>A (p.Ala389Thr)
n.800G>A
n.818G>A
n.1736G>A
c.1213G>A (p.Ala405Thr)
c.1363G>A (p.Ala455Thr)
c.1336G>A (p.Ala446Thr)
 gnomAD v4 COSMIC COSMIC COSMIC
7g.150952470G>ACA028241KCNH2n.810C>T
n.405C>T
n.2345C>T
c.1512C>T (p.Ala504=)
c.492C>T (p.Ala164=)
c.1164C>T (p.Ala388=)
n.799C>T
n.817C>T
n.1735C>T
c.1212C>T (p.Ala404=)
c.1362C>T (p.Ala454=)
c.1335C>T (p.Ala445=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150952470G>CCA458871599KCNH2n.810C>G
n.405C>G
n.2345C>G
c.1512C>G (p.Ala504=)
c.492C>G (p.Ala164=)
c.1164C>G (p.Ala388=)
n.799C>G
n.817C>G
n.1735C>G
c.1212C>G (p.Ala404=)
c.1362C>G (p.Ala454=)
c.1335C>G (p.Ala445=)
 ClinVar dbSNP gnomAD v4
7g.150952470G=CA1752411556KCNH2n.810C=
n.405C=
n.2345C=
c.1512C= (p.Ala504=)
c.492C= (p.Ala164=)
c.1164C= (p.Ala388=)
n.799C=
n.817C=
n.1735C=
c.1212C= (p.Ala404=)
c.1362C= (p.Ala454=)
c.1335C= (p.Ala445=)
7g.150952470G>TCA458871600KCNH2n.810C>A
n.405C>A
n.2345C>A
c.1512C>A (p.Ala504=)
c.492C>A (p.Ala164=)
c.1164C>A (p.Ala388=)
n.799C>A
n.817C>A
n.1735C>A
c.1212C>A (p.Ala404=)
c.1362C>A (p.Ala454=)
c.1335C>A (p.Ala445=)
7g.150952471G>ACA369859575KCNH2n.809C>T
n.404C>T
n.2344C>T
c.1511C>T (p.Ala504Val)
c.491C>T (p.Ala164Val)
c.1163C>T (p.Ala388Val)
n.798C>T
n.816C>T
n.1734C>T
c.1211C>T (p.Ala404Val)
c.1361C>T (p.Ala454Val)
c.1334C>T (p.Ala445Val)
7g.150952471G>CCA369859577KCNH2n.809C>G
n.404C>G
n.2344C>G
c.1511C>G (p.Ala504Gly)
c.491C>G (p.Ala164Gly)
c.1163C>G (p.Ala388Gly)
n.798C>G
n.816C>G
n.1734C>G
c.1211C>G (p.Ala404Gly)
c.1361C>G (p.Ala454Gly)
c.1334C>G (p.Ala445Gly)
7g.150952471G>TCA369859579KCNH2n.809C>A
n.404C>A
n.2344C>A
c.1511C>A (p.Ala504Asp)
c.491C>A (p.Ala164Asp)
c.1163C>A (p.Ala388Asp)
n.798C>A
n.816C>A
n.1734C>A
c.1211C>A (p.Ala404Asp)
c.1361C>A (p.Ala454Asp)
c.1334C>A (p.Ala445Asp)
 ClinVar
7g.150952472C>ACA369859581KCNH2n.808G>T
n.403G>T
n.2343G>T
c.1510G>T (p.Ala504Ser)
c.490G>T (p.Ala164Ser)
c.1162G>T (p.Ala388Ser)
n.797G>T
n.815G>T
n.1733G>T
c.1210G>T (p.Ala404Ser)
c.1360G>T (p.Ala454Ser)
c.1333G>T (p.Ala445Ser)
7g.150952472C>GCA369859583KCNH2n.808G>C
n.403G>C
n.2343G>C
c.1510G>C (p.Ala504Pro)
c.490G>C (p.Ala164Pro)
c.1162G>C (p.Ala388Pro)
n.797G>C
n.815G>C
n.1733G>C
c.1210G>C (p.Ala404Pro)
c.1360G>C (p.Ala454Pro)
c.1333G>C (p.Ala445Pro)
7g.150952472C>TCA369859585KCNH2n.808G>A
n.403G>A
n.2343G>A
c.1510G>A (p.Ala504Thr)
c.490G>A (p.Ala164Thr)
c.1162G>A (p.Ala388Thr)
n.797G>A
n.815G>A
n.1733G>A
c.1210G>A (p.Ala404Thr)
c.1360G>A (p.Ala454Thr)
c.1333G>A (p.Ala445Thr)
7g.150952473C>ACA458871602KCNH2n.807G>T
n.402G>T
n.2342G>T
c.1509G>T (p.Val503=)
c.489G>T (p.Val163=)
c.1161G>T (p.Val387=)
n.796G>T
n.814G>T
n.1732G>T
c.1209G>T (p.Val403=)
c.1359G>T (p.Val453=)
c.1332G>T (p.Val444=)
 COSMIC COSMIC COSMIC
7g.150952473C=CA1752411560KCNH2n.807G=
n.402G=
n.2342G=
c.1509G= (p.Val503=)
c.489G= (p.Val163=)
c.1161G= (p.Val387=)
n.796G=
n.814G=
n.1732G=
c.1209G= (p.Val403=)
c.1359G= (p.Val453=)
c.1332G= (p.Val444=)
7g.150952473C>GCA458871601KCNH2n.807G>C
n.402G>C
n.2342G>C
c.1509G>C (p.Val503=)
c.489G>C (p.Val163=)
c.1161G>C (p.Val387=)
n.796G>C
n.814G>C
n.1732G>C
c.1209G>C (p.Val403=)
c.1359G>C (p.Val453=)
c.1332G>C (p.Val444=)
7g.150952473C>TCA169077360KCNH2n.807G>A
n.402G>A
n.2342G>A
c.1509G>A (p.Val503=)
c.489G>A (p.Val163=)
c.1161G>A (p.Val387=)
n.796G>A
n.814G>A
n.1732G>A
c.1209G>A (p.Val403=)
c.1359G>A (p.Val453=)
c.1332G>A (p.Val444=)
 ClinVar dbSNP gnomAD v4
7g.150952474A>CCA369859587KCNH2n.806T>G
n.401T>G
n.2341T>G
c.1508T>G (p.Val503Gly)
c.488T>G (p.Val163Gly)
c.1160T>G (p.Val387Gly)
n.795T>G
n.813T>G
n.1731T>G
c.1208T>G (p.Val403Gly)
c.1358T>G (p.Val453Gly)
c.1331T>G (p.Val444Gly)
7g.150952474A>GCA369859588KCNH2n.806T>C
n.401T>C
n.2341T>C
c.1508T>C (p.Val503Ala)
c.488T>C (p.Val163Ala)
c.1160T>C (p.Val387Ala)
n.795T>C
n.813T>C
n.1731T>C
c.1208T>C (p.Val403Ala)
c.1358T>C (p.Val453Ala)
c.1331T>C (p.Val444Ala)
7g.150952474A>TCA369859590KCNH2n.806T>A
n.401T>A
n.2341T>A
c.1508T>A (p.Val503Glu)
c.488T>A (p.Val163Glu)
c.1160T>A (p.Val387Glu)
n.795T>A
n.813T>A
n.1731T>A
c.1208T>A (p.Val403Glu)
c.1358T>A (p.Val453Glu)
c.1331T>A (p.Val444Glu)
7g.150952475C>ACA369859592KCNH2n.805G>T
n.400G>T
n.2340G>T
c.1507G>T (p.Val503Leu)
c.487G>T (p.Val163Leu)
c.1159G>T (p.Val387Leu)
n.794G>T
n.812G>T
n.1730G>T
c.1207G>T (p.Val403Leu)
c.1357G>T (p.Val453Leu)
c.1330G>T (p.Val444Leu)
7g.150952475C>GCA369859596KCNH2n.805G>C
n.400G>C
n.2340G>C
c.1507G>C (p.Val503Leu)
c.487G>C (p.Val163Leu)
c.1159G>C (p.Val387Leu)
n.794G>C
n.812G>C
n.1730G>C
c.1207G>C (p.Val403Leu)
c.1357G>C (p.Val453Leu)
c.1330G>C (p.Val444Leu)
7g.150952475C>TCA369859594KCNH2n.805G>A
n.400G>A
n.2340G>A
c.1507G>A (p.Val503Met)
c.487G>A (p.Val163Met)
c.1159G>A (p.Val387Met)
n.794G>A
n.812G>A
n.1730G>A
c.1207G>A (p.Val403Met)
c.1357G>A (p.Val453Met)
c.1330G>A (p.Val444Met)
7g.150952476C>ACA028228KCNH2n.804G>T
n.399G>T
n.2339G>T
c.1506G>T (p.Met502Ile)
c.486G>T (p.Met162Ile)
c.1158G>T (p.Met386Ile)
n.793G>T
n.811G>T
n.1729G>T
c.1206G>T (p.Met402Ile)
c.1356G>T (p.Met452Ile)
c.1329G>T (p.Met443Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150952476C=CA1752411563KCNH2n.804G=
n.399G=
n.2339G=
c.1506G= (p.Met502=)
c.486G= (p.Met162=)
c.1158G= (p.Met386=)
n.793G=
n.811G=
n.1729G=
c.1206G= (p.Met402=)
c.1356G= (p.Met452=)
c.1329G= (p.Met443=)
7g.150952476C>GCA369859598KCNH2n.804G>C
n.399G>C
n.2339G>C
c.1506G>C (p.Met502Ile)
c.486G>C (p.Met162Ile)
c.1158G>C (p.Met386Ile)
n.793G>C
n.811G>C
n.1729G>C
c.1206G>C (p.Met402Ile)
c.1356G>C (p.Met452Ile)
c.1329G>C (p.Met443Ile)
7g.150952476C>TCA369859599KCNH2n.804G>A
n.399G>A
n.2339G>A
c.1506G>A (p.Met502Ile)
c.486G>A (p.Met162Ile)
c.1158G>A (p.Met386Ile)
n.793G>A
n.811G>A
n.1729G>A
c.1206G>A (p.Met402Ile)
c.1356G>A (p.Met452Ile)
c.1329G>A (p.Met443Ile)
7g.150952477A=CA1752411564KCNH2n.803T=
n.398T=
n.2338T=
c.1505T= (p.Met502=)
c.485T= (p.Met162=)
c.1157T= (p.Met386=)
n.792T=
n.810T=
n.1728T=
c.1205T= (p.Met402=)
c.1355T= (p.Met452=)
c.1328T= (p.Met443=)
7g.150952477A>CCA369859600KCNH2n.803T>G
n.398T>G
n.2338T>G
c.1505T>G (p.Met502Arg)
c.485T>G (p.Met162Arg)
c.1157T>G (p.Met386Arg)
n.792T>G
n.810T>G
n.1728T>G
c.1205T>G (p.Met402Arg)
c.1355T>G (p.Met452Arg)
c.1328T>G (p.Met443Arg)
7g.150952477A>GCA369859601KCNH2n.803T>C
n.398T>C
n.2338T>C
c.1505T>C (p.Met502Thr)
c.485T>C (p.Met162Thr)
c.1157T>C (p.Met386Thr)
n.792T>C
n.810T>C
n.1728T>C
c.1205T>C (p.Met402Thr)
c.1355T>C (p.Met452Thr)
c.1328T>C (p.Met443Thr)
 dbSNP gnomAD v4
7g.150952477A>TCA169077372KCNH2n.803T>A
n.398T>A
n.2338T>A
c.1505T>A (p.Met502Lys)
c.485T>A (p.Met162Lys)
c.1157T>A (p.Met386Lys)
n.792T>A
n.810T>A
n.1728T>A
c.1205T>A (p.Met402Lys)
c.1355T>A (p.Met452Lys)
c.1328T>A (p.Met443Lys)
 dbSNP
7g.150952478T>ACA369859604KCNH2n.802A>T
n.397A>T
n.2337A>T
c.1504A>T (p.Met502Leu)
c.484A>T (p.Met162Leu)
c.1156A>T (p.Met386Leu)
n.791A>T
n.809A>T
n.1727A>T
c.1204A>T (p.Met402Leu)
c.1354A>T (p.Met452Leu)
c.1327A>T (p.Met443Leu)
7g.150952478T>CCA369859606KCNH2n.802A>G
n.397A>G
n.2337A>G
c.1504A>G (p.Met502Val)
c.484A>G (p.Met162Val)
c.1156A>G (p.Met386Val)
n.791A>G
n.809A>G
n.1727A>G
c.1204A>G (p.Met402Val)
c.1354A>G (p.Met452Val)
c.1327A>G (p.Met443Val)
 gnomAD v4
7g.150952478T>GCA369859607KCNH2n.802A>C
n.397A>C
n.2337A>C
c.1504A>C (p.Met502Leu)
c.484A>C (p.Met162Leu)
c.1156A>C (p.Met386Leu)
n.791A>C
n.809A>C
n.1727A>C
c.1204A>C (p.Met402Leu)
c.1354A>C (p.Met452Leu)
c.1327A>C (p.Met443Leu)
7g.150952479G>ACA458871603KCNH2n.801C>T
n.396C>T
n.2336C>T
c.1503C>T (p.Asp501=)
c.483C>T (p.Asp161=)
c.1155C>T (p.Asp385=)
n.790C>T
n.808C>T
n.1726C>T
c.1203C>T (p.Asp401=)
c.1353C>T (p.Asp451=)
c.1326C>T (p.Asp442=)
 dbSNP gnomAD v4
7g.150952479G>CCA369859609KCNH2n.801C>G
n.396C>G
n.2336C>G
c.1503C>G (p.Asp501Glu)
c.483C>G (p.Asp161Glu)
c.1155C>G (p.Asp385Glu)
n.790C>G
n.808C>G
n.1726C>G
c.1203C>G (p.Asp401Glu)
c.1353C>G (p.Asp451Glu)
c.1326C>G (p.Asp442Glu)
7g.150952479G=CA1752411568KCNH2n.801C=
n.396C=
n.2336C=
c.1503C= (p.Asp501=)
c.483C= (p.Asp161=)
c.1155C= (p.Asp385=)
n.790C=
n.808C=
n.1726C=
c.1203C= (p.Asp401=)
c.1353C= (p.Asp451=)
c.1326C= (p.Asp442=)
7g.150952479G>TCA369859611KCNH2n.801C>A
n.396C>A
n.2336C>A
c.1503C>A (p.Asp501Glu)
c.483C>A (p.Asp161Glu)
c.1155C>A (p.Asp385Glu)
n.790C>A
n.808C>A
n.1726C>A
c.1203C>A (p.Asp401Glu)
c.1353C>A (p.Asp451Glu)
c.1326C>A (p.Asp442Glu)
7g.150952480T>ACA369859616KCNH2n.800A>T
n.395A>T
n.2335A>T
c.1502A>T (p.Asp501Val)
c.482A>T (p.Asp161Val)
c.1154A>T (p.Asp385Val)
n.789A>T
n.807A>T
n.1725A>T
c.1202A>T (p.Asp401Val)
c.1352A>T (p.Asp451Val)
c.1325A>T (p.Asp442Val)
7g.150952480T>CCA004741KCNH2n.800A>G
n.395A>G
n.2335A>G
c.1502A>G (p.Asp501Gly)
c.482A>G (p.Asp161Gly)
c.1154A>G (p.Asp385Gly)
n.789A>G
n.807A>G
n.1725A>G
c.1202A>G (p.Asp401Gly)
c.1352A>G (p.Asp451Gly)
c.1325A>G (p.Asp442Gly)
 ClinVar dbSNP
7g.150952480T>GCA369859613KCNH2n.800A>C
n.395A>C
n.2335A>C
c.1502A>C (p.Asp501Ala)
c.482A>C (p.Asp161Ala)
c.1154A>C (p.Asp385Ala)
n.789A>C
n.807A>C
n.1725A>C
c.1202A>C (p.Asp401Ala)
c.1352A>C (p.Asp451Ala)
c.1325A>C (p.Asp442Ala)

Number of alleles fetched