Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.135765649_135765650delCA2720685277KCNT1c.1226_1227del (p.Pro409HisfsTer?)
c.1067_1068del (p.Pro356HisfsTer?)
c.974_975del (p.Pro325HisfsTer?)
c.983_984del (p.Pro328HisfsTer?)
c.1127_1128del (p.Pro376HisfsTer?)
c.*836_*837del (n.*836_*837del)
c.1109_1110del (p.Pro370HisfsTer?)
c.1169_1170del (p.Pro390HisfsTer?)
n.1045_1046del
c.1091_1092del (p.Pro364HisfsTer?)
c.1361_1362del (p.Pro454HisfsTer?)
c.1370_1371del (p.Pro457HisfsTer?)
c.716_717del (p.Pro239HisfsTer?)
c.1160_1161del (p.Pro387HisfsTer?)
 dbSNP
9g.135765649C>ACA375501178KCNT1c.1226C>A (p.Pro409His)
c.1067C>A (p.Pro356His)
c.974C>A (p.Pro325His)
c.983C>A (p.Pro328His)
c.1127C>A (p.Pro376His)
c.*836C>A (n.*836C>A)
c.1109C>A (p.Pro370His)
c.1169C>A (p.Pro390His)
n.1045C>A
c.1091C>A (p.Pro364His)
c.1361C>A (p.Pro454His)
c.1370C>A (p.Pro457His)
c.716C>A (p.Pro239His)
c.1160C>A (p.Pro387His)
9g.135765649C=CA1883866671KCNT1c.1226C= (p.Pro409=)
c.1067C= (p.Pro356=)
c.974C= (p.Pro325=)
c.983C= (p.Pro328=)
c.1127C= (p.Pro376=)
c.*836C= (n.*836C=)
c.1109C= (p.Pro370=)
c.1169C= (p.Pro390=)
n.1045C=
c.1091C= (p.Pro364=)
c.1361C= (p.Pro454=)
c.1370C= (p.Pro457=)
c.716C= (p.Pro239=)
c.1160C= (p.Pro387=)
9g.135765649C>GCA375501181KCNT1c.1226C>G (p.Pro409Arg)
c.1067C>G (p.Pro356Arg)
c.974C>G (p.Pro325Arg)
c.983C>G (p.Pro328Arg)
c.1127C>G (p.Pro376Arg)
c.*836C>G (n.*836C>G)
c.1109C>G (p.Pro370Arg)
c.1169C>G (p.Pro390Arg)
n.1045C>G
c.1091C>G (p.Pro364Arg)
c.1361C>G (p.Pro454Arg)
c.1370C>G (p.Pro457Arg)
c.716C>G (p.Pro239Arg)
c.1160C>G (p.Pro387Arg)
9g.135765649C>TCA16618794KCNT1c.1226C>T (p.Pro409Leu)
c.1067C>T (p.Pro356Leu)
c.974C>T (p.Pro325Leu)
c.983C>T (p.Pro328Leu)
c.1127C>T (p.Pro376Leu)
c.*836C>T (n.*836C>T)
c.1109C>T (p.Pro370Leu)
c.1169C>T (p.Pro390Leu)
n.1045C>T
c.1091C>T (p.Pro364Leu)
c.1361C>T (p.Pro454Leu)
c.1370C>T (p.Pro457Leu)
c.716C>T (p.Pro239Leu)
c.1160C>T (p.Pro387Leu)
 ClinVar dbSNP gnomAD v4
9g.135765650C>ACA467698135KCNT1c.1227C>A (p.Pro409=)
c.1068C>A (p.Pro356=)
c.975C>A (p.Pro325=)
c.984C>A (p.Pro328=)
c.1128C>A (p.Pro376=)
c.*837C>A (n.*837C>A)
c.1110C>A (p.Pro370=)
c.1170C>A (p.Pro390=)
n.1046C>A
c.1092C>A (p.Pro364=)
c.1362C>A (p.Pro454=)
c.1371C>A (p.Pro457=)
c.717C>A (p.Pro239=)
c.1161C>A (p.Pro387=)
 gnomAD v4
9g.135765650C>GCA467698136KCNT1c.1227C>G (p.Pro409=)
c.1068C>G (p.Pro356=)
c.975C>G (p.Pro325=)
c.984C>G (p.Pro328=)
c.1128C>G (p.Pro376=)
c.*837C>G (n.*837C>G)
c.1110C>G (p.Pro370=)
c.1170C>G (p.Pro390=)
n.1046C>G
c.1092C>G (p.Pro364=)
c.1362C>G (p.Pro454=)
c.1371C>G (p.Pro457=)
c.717C>G (p.Pro239=)
c.1161C>G (p.Pro387=)
9g.135765650C>TCA467698137KCNT1c.1227C>T (p.Pro409=)
c.1068C>T (p.Pro356=)
c.975C>T (p.Pro325=)
c.984C>T (p.Pro328=)
c.1128C>T (p.Pro376=)
c.*837C>T (n.*837C>T)
c.1110C>T (p.Pro370=)
c.1170C>T (p.Pro390=)
n.1046C>T
c.1092C>T (p.Pro364=)
c.1362C>T (p.Pro454=)
c.1371C>T (p.Pro457=)
c.717C>T (p.Pro239=)
c.1161C>T (p.Pro387=)
 gnomAD v4
9g.135765651A>CCA375501186KCNT1c.1228A>C (p.Thr410Pro)
c.1069A>C (p.Thr357Pro)
c.976A>C (p.Thr326Pro)
c.985A>C (p.Thr329Pro)
c.1129A>C (p.Thr377Pro)
c.*838A>C (n.*838A>C)
c.1111A>C (p.Thr371Pro)
c.1171A>C (p.Thr391Pro)
n.1047A>C
c.1093A>C (p.Thr365Pro)
c.1363A>C (p.Thr455Pro)
c.1372A>C (p.Thr458Pro)
c.718A>C (p.Thr240Pro)
c.1162A>C (p.Thr388Pro)
9g.135765651A>GCA375501188KCNT1c.1228A>G (p.Thr410Ala)
c.1069A>G (p.Thr357Ala)
c.976A>G (p.Thr326Ala)
c.985A>G (p.Thr329Ala)
c.1129A>G (p.Thr377Ala)
c.*838A>G (n.*838A>G)
c.1111A>G (p.Thr371Ala)
c.1171A>G (p.Thr391Ala)
n.1047A>G
c.1093A>G (p.Thr365Ala)
c.1363A>G (p.Thr455Ala)
c.1372A>G (p.Thr458Ala)
c.718A>G (p.Thr240Ala)
c.1162A>G (p.Thr388Ala)
9g.135765651A>TCA375501191KCNT1c.1228A>T (p.Thr410Ser)
c.1069A>T (p.Thr357Ser)
c.976A>T (p.Thr326Ser)
c.985A>T (p.Thr329Ser)
c.1129A>T (p.Thr377Ser)
c.*838A>T (n.*838A>T)
c.1111A>T (p.Thr371Ser)
c.1171A>T (p.Thr391Ser)
n.1047A>T
c.1093A>T (p.Thr365Ser)
c.1363A>T (p.Thr455Ser)
c.1372A>T (p.Thr458Ser)
c.718A>T (p.Thr240Ser)
c.1162A>T (p.Thr388Ser)
9g.135765652C>ACA375501194KCNT1c.1229C>A (p.Thr410Lys)
c.1070C>A (p.Thr357Lys)
c.977C>A (p.Thr326Lys)
c.986C>A (p.Thr329Lys)
c.1130C>A (p.Thr377Lys)
c.*839C>A (n.*839C>A)
c.1112C>A (p.Thr371Lys)
c.1172C>A (p.Thr391Lys)
n.1048C>A
c.1094C>A (p.Thr365Lys)
c.1364C>A (p.Thr455Lys)
c.1373C>A (p.Thr458Lys)
c.719C>A (p.Thr240Lys)
c.1163C>A (p.Thr388Lys)
9g.135765652C=CA1883866672KCNT1c.1229C= (p.Thr410=)
c.1070C= (p.Thr357=)
c.977C= (p.Thr326=)
c.986C= (p.Thr329=)
c.1130C= (p.Thr377=)
c.*839C= (n.*839C=)
c.1112C= (p.Thr371=)
c.1172C= (p.Thr391=)
n.1048C=
c.1094C= (p.Thr365=)
c.1364C= (p.Thr455=)
c.1373C= (p.Thr458=)
c.719C= (p.Thr240=)
c.1163C= (p.Thr388=)
9g.135765652C>GCA375501196KCNT1c.1229C>G (p.Thr410Arg)
c.1070C>G (p.Thr357Arg)
c.977C>G (p.Thr326Arg)
c.986C>G (p.Thr329Arg)
c.1130C>G (p.Thr377Arg)
c.*839C>G (n.*839C>G)
c.1112C>G (p.Thr371Arg)
c.1172C>G (p.Thr391Arg)
n.1048C>G
c.1094C>G (p.Thr365Arg)
c.1364C>G (p.Thr455Arg)
c.1373C>G (p.Thr458Arg)
c.719C>G (p.Thr240Arg)
c.1163C>G (p.Thr388Arg)
 dbSNP gnomAD v4
9g.135765652C>TCA201465649KCNT1c.1229C>T (p.Thr410Met)
c.1070C>T (p.Thr357Met)
c.977C>T (p.Thr326Met)
c.986C>T (p.Thr329Met)
c.1130C>T (p.Thr377Met)
c.*839C>T (n.*839C>T)
c.1112C>T (p.Thr371Met)
c.1172C>T (p.Thr391Met)
n.1048C>T
c.1094C>T (p.Thr365Met)
c.1364C>T (p.Thr455Met)
c.1373C>T (p.Thr458Met)
c.719C>T (p.Thr240Met)
c.1163C>T (p.Thr388Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.135765653G>ACA5326831KCNT1c.1230G>A (p.Thr410=)
c.1071G>A (p.Thr357=)
c.978G>A (p.Thr326=)
c.987G>A (p.Thr329=)
c.1131G>A (p.Thr377=)
c.*840G>A (n.*840G>A)
c.1113G>A (p.Thr371=)
c.1173G>A (p.Thr391=)
n.1049G>A
c.1095G>A (p.Thr365=)
c.1365G>A (p.Thr455=)
c.1374G>A (p.Thr458=)
c.720G>A (p.Thr240=)
c.1164G>A (p.Thr388=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.135765653G>CCA467698138KCNT1c.1230G>C (p.Thr410=)
c.1071G>C (p.Thr357=)
c.978G>C (p.Thr326=)
c.987G>C (p.Thr329=)
c.1131G>C (p.Thr377=)
c.*840G>C (n.*840G>C)
c.1113G>C (p.Thr371=)
c.1173G>C (p.Thr391=)
n.1049G>C
c.1095G>C (p.Thr365=)
c.1365G>C (p.Thr455=)
c.1374G>C (p.Thr458=)
c.720G>C (p.Thr240=)
c.1164G>C (p.Thr388=)
9g.135765653G=CA1883866673KCNT1c.1230G= (p.Thr410=)
c.1071G= (p.Thr357=)
c.978G= (p.Thr326=)
c.987G= (p.Thr329=)
c.1131G= (p.Thr377=)
c.*840G= (n.*840G=)
c.1113G= (p.Thr371=)
c.1173G= (p.Thr391=)
n.1049G=
c.1095G= (p.Thr365=)
c.1365G= (p.Thr455=)
c.1374G= (p.Thr458=)
c.720G= (p.Thr240=)
c.1164G= (p.Thr388=)
9g.135765653G>TCA467698139KCNT1c.1230G>T (p.Thr410=)
c.1071G>T (p.Thr357=)
c.978G>T (p.Thr326=)
c.987G>T (p.Thr329=)
c.1131G>T (p.Thr377=)
c.*840G>T (n.*840G>T)
c.1113G>T (p.Thr371=)
c.1173G>T (p.Thr391=)
n.1049G>T
c.1095G>T (p.Thr365=)
c.1365G>T (p.Thr455=)
c.1374G>T (p.Thr458=)
c.720G>T (p.Thr240=)
c.1164G>T (p.Thr388=)
9g.135765654G>ACA375501204KCNT1c.1231G>A (p.Glu411Lys)
c.1072G>A (p.Glu358Lys)
c.979G>A (p.Glu327Lys)
c.988G>A (p.Glu330Lys)
c.1132G>A (p.Glu378Lys)
c.*841G>A (n.*841G>A)
c.1114G>A (p.Glu372Lys)
c.1174G>A (p.Glu392Lys)
n.1050G>A
c.1096G>A (p.Glu366Lys)
c.1366G>A (p.Glu456Lys)
c.1375G>A (p.Glu459Lys)
c.721G>A (p.Glu241Lys)
c.1165G>A (p.Glu389Lys)
 gnomAD v4 COSMIC COSMIC
9g.135765654G>CCA375501207KCNT1c.1231G>C (p.Glu411Gln)
c.1072G>C (p.Glu358Gln)
c.979G>C (p.Glu327Gln)
c.988G>C (p.Glu330Gln)
c.1132G>C (p.Glu378Gln)
c.*841G>C (n.*841G>C)
c.1114G>C (p.Glu372Gln)
c.1174G>C (p.Glu392Gln)
n.1050G>C
c.1096G>C (p.Glu366Gln)
c.1366G>C (p.Glu456Gln)
c.1375G>C (p.Glu459Gln)
c.721G>C (p.Glu241Gln)
c.1165G>C (p.Glu389Gln)
9g.135765654G>TCA375501208KCNT1c.1231G>T (p.Glu411Ter)
c.1072G>T (p.Glu358Ter)
c.979G>T (p.Glu327Ter)
c.988G>T (p.Glu330Ter)
c.1132G>T (p.Glu378Ter)
c.*841G>T (n.*841G>T)
c.1114G>T (p.Glu372Ter)
c.1174G>T (p.Glu392Ter)
n.1050G>T
c.1096G>T (p.Glu366Ter)
c.1366G>T (p.Glu456Ter)
c.1375G>T (p.Glu459Ter)
c.721G>T (p.Glu241Ter)
c.1165G>T (p.Glu389Ter)
9g.135765655A>CCA375501219KCNT1c.1232A>C (p.Glu411Ala)
c.1073A>C (p.Glu358Ala)
c.980A>C (p.Glu327Ala)
c.989A>C (p.Glu330Ala)
c.1133A>C (p.Glu378Ala)
c.*842A>C (n.*842A>C)
c.1115A>C (p.Glu372Ala)
c.1175A>C (p.Glu392Ala)
n.1051A>C
c.1097A>C (p.Glu366Ala)
c.1367A>C (p.Glu456Ala)
c.1376A>C (p.Glu459Ala)
c.722A>C (p.Glu241Ala)
c.1166A>C (p.Glu389Ala)
9g.135765655A>GCA375501212KCNT1c.1232A>G (p.Glu411Gly)
c.1073A>G (p.Glu358Gly)
c.980A>G (p.Glu327Gly)
c.989A>G (p.Glu330Gly)
c.1133A>G (p.Glu378Gly)
c.*842A>G (n.*842A>G)
c.1115A>G (p.Glu372Gly)
c.1175A>G (p.Glu392Gly)
n.1051A>G
c.1097A>G (p.Glu366Gly)
c.1367A>G (p.Glu456Gly)
c.1376A>G (p.Glu459Gly)
c.722A>G (p.Glu241Gly)
c.1166A>G (p.Glu389Gly)
9g.135765655A>TCA375501216KCNT1c.1232A>T (p.Glu411Val)
c.1073A>T (p.Glu358Val)
c.980A>T (p.Glu327Val)
c.989A>T (p.Glu330Val)
c.1133A>T (p.Glu378Val)
c.*842A>T (n.*842A>T)
c.1115A>T (p.Glu372Val)
c.1175A>T (p.Glu392Val)
n.1051A>T
c.1097A>T (p.Glu366Val)
c.1367A>T (p.Glu456Val)
c.1376A>T (p.Glu459Val)
c.722A>T (p.Glu241Val)
c.1166A>T (p.Glu389Val)
9g.135765656G>ACA467698140KCNT1c.1233G>A (p.Glu411=)
c.1074G>A (p.Glu358=)
c.981G>A (p.Glu327=)
c.990G>A (p.Glu330=)
c.1134G>A (p.Glu378=)
c.*843G>A (n.*843G>A)
c.1116G>A (p.Glu372=)
c.1176G>A (p.Glu392=)
n.1052G>A
c.1098G>A (p.Glu366=)
c.1368G>A (p.Glu456=)
c.1377G>A (p.Glu459=)
c.723G>A (p.Glu241=)
c.1167G>A (p.Glu389=)
9g.135765656G>CCA5326832KCNT1c.1233G>C (p.Glu411Asp)
c.1074G>C (p.Glu358Asp)
c.981G>C (p.Glu327Asp)
c.990G>C (p.Glu330Asp)
c.1134G>C (p.Glu378Asp)
c.*843G>C (n.*843G>C)
c.1116G>C (p.Glu372Asp)
c.1176G>C (p.Glu392Asp)
n.1052G>C
c.1098G>C (p.Glu366Asp)
c.1368G>C (p.Glu456Asp)
c.1377G>C (p.Glu459Asp)
c.723G>C (p.Glu241Asp)
c.1167G>C (p.Glu389Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135765656G=CA1883866674KCNT1c.1233G= (p.Glu411=)
c.1074G= (p.Glu358=)
c.981G= (p.Glu327=)
c.990G= (p.Glu330=)
c.1134G= (p.Glu378=)
c.*843G= (n.*843G=)
c.1116G= (p.Glu372=)
c.1176G= (p.Glu392=)
n.1052G=
c.1098G= (p.Glu366=)
c.1368G= (p.Glu456=)
c.1377G= (p.Glu459=)
c.723G= (p.Glu241=)
c.1167G= (p.Glu389=)
9g.135765656G>TCA375501236KCNT1c.1233G>T (p.Glu411Asp)
c.1074G>T (p.Glu358Asp)
c.981G>T (p.Glu327Asp)
c.990G>T (p.Glu330Asp)
c.1134G>T (p.Glu378Asp)
c.*843G>T (n.*843G>T)
c.1116G>T (p.Glu372Asp)
c.1176G>T (p.Glu392Asp)
n.1052G>T
c.1098G>T (p.Glu366Asp)
c.1368G>T (p.Glu456Asp)
c.1377G>T (p.Glu459Asp)
c.723G>T (p.Glu241Asp)
c.1167G>T (p.Glu389Asp)
 COSMIC
9g.135765657A=CA1883866675KCNT1c.1234A= (p.Met412=)
c.1075A= (p.Met359=)
c.982A= (p.Met328=)
c.991A= (p.Met331=)
c.1135A= (p.Met379=)
c.*844A= (n.*844A=)
c.1117A= (p.Met373=)
c.1177A= (p.Met393=)
n.1053A=
c.1099A= (p.Met367=)
c.1369A= (p.Met457=)
c.1378A= (p.Met460=)
c.724A= (p.Met242=)
c.1168A= (p.Met390=)
9g.135765657A>CCA375501238KCNT1c.1234A>C (p.Met412Leu)
c.1075A>C (p.Met359Leu)
c.982A>C (p.Met328Leu)
c.991A>C (p.Met331Leu)
c.1135A>C (p.Met379Leu)
c.*844A>C (n.*844A>C)
c.1117A>C (p.Met373Leu)
c.1177A>C (p.Met393Leu)
n.1053A>C
c.1099A>C (p.Met367Leu)
c.1369A>C (p.Met457Leu)
c.1378A>C (p.Met460Leu)
c.724A>C (p.Met242Leu)
c.1168A>C (p.Met390Leu)
9g.135765657A>GCA201465662KCNT1c.1234A>G (p.Met412Val)
c.1075A>G (p.Met359Val)
c.982A>G (p.Met328Val)
c.991A>G (p.Met331Val)
c.1135A>G (p.Met379Val)
c.*844A>G (n.*844A>G)
c.1117A>G (p.Met373Val)
c.1177A>G (p.Met393Val)
n.1053A>G
c.1099A>G (p.Met367Val)
c.1369A>G (p.Met457Val)
c.1378A>G (p.Met460Val)
c.724A>G (p.Met242Val)
c.1168A>G (p.Met390Val)
 ClinVar dbSNP gnomAD v4
9g.135765657A>TCA375501240KCNT1c.1234A>T (p.Met412Leu)
c.1075A>T (p.Met359Leu)
c.982A>T (p.Met328Leu)
c.991A>T (p.Met331Leu)
c.1135A>T (p.Met379Leu)
c.*844A>T (n.*844A>T)
c.1117A>T (p.Met373Leu)
c.1177A>T (p.Met393Leu)
n.1053A>T
c.1099A>T (p.Met367Leu)
c.1369A>T (p.Met457Leu)
c.1378A>T (p.Met460Leu)
c.724A>T (p.Met242Leu)
c.1168A>T (p.Met390Leu)
 ClinVar
9g.135765658T>ACA375501243KCNT1c.1235T>A (p.Met412Lys)
c.1076T>A (p.Met359Lys)
c.983T>A (p.Met328Lys)
c.992T>A (p.Met331Lys)
c.1136T>A (p.Met379Lys)
c.*845T>A (n.*845T>A)
c.1118T>A (p.Met373Lys)
c.1178T>A (p.Met393Lys)
n.1054T>A
c.1100T>A (p.Met367Lys)
c.1370T>A (p.Met457Lys)
c.1379T>A (p.Met460Lys)
c.725T>A (p.Met242Lys)
c.1169T>A (p.Met390Lys)
9g.135765658T>CCA375501246KCNT1c.1235T>C (p.Met412Thr)
c.1076T>C (p.Met359Thr)
c.983T>C (p.Met328Thr)
c.992T>C (p.Met331Thr)
c.1136T>C (p.Met379Thr)
c.*845T>C (n.*845T>C)
c.1118T>C (p.Met373Thr)
c.1178T>C (p.Met393Thr)
n.1054T>C
c.1100T>C (p.Met367Thr)
c.1370T>C (p.Met457Thr)
c.1379T>C (p.Met460Thr)
c.725T>C (p.Met242Thr)
c.1169T>C (p.Met390Thr)
9g.135765658T>GCA375501247KCNT1c.1235T>G (p.Met412Arg)
c.1076T>G (p.Met359Arg)
c.983T>G (p.Met328Arg)
c.992T>G (p.Met331Arg)
c.1136T>G (p.Met379Arg)
c.*845T>G (n.*845T>G)
c.1118T>G (p.Met373Arg)
c.1178T>G (p.Met393Arg)
n.1054T>G
c.1100T>G (p.Met367Arg)
c.1370T>G (p.Met457Arg)
c.1379T>G (p.Met460Arg)
c.725T>G (p.Met242Arg)
c.1169T>G (p.Met390Arg)
9g.135765659G>ACA375501248KCNT1c.1236G>A (p.Met412Ile)
c.1077G>A (p.Met359Ile)
c.984G>A (p.Met328Ile)
c.993G>A (p.Met331Ile)
c.1137G>A (p.Met379Ile)
c.*846G>A (n.*846G>A)
c.1119G>A (p.Met373Ile)
c.1179G>A (p.Met393Ile)
n.1055G>A
c.1101G>A (p.Met367Ile)
c.1371G>A (p.Met457Ile)
c.1380G>A (p.Met460Ile)
c.726G>A (p.Met242Ile)
c.1170G>A (p.Met390Ile)
 ClinVar dbSNP gnomAD v4
9g.135765659G>CCA375501251KCNT1c.1236G>C (p.Met412Ile)
c.1077G>C (p.Met359Ile)
c.984G>C (p.Met328Ile)
c.993G>C (p.Met331Ile)
c.1137G>C (p.Met379Ile)
c.*846G>C (n.*846G>C)
c.1119G>C (p.Met373Ile)
c.1179G>C (p.Met393Ile)
n.1055G>C
c.1101G>C (p.Met367Ile)
c.1371G>C (p.Met457Ile)
c.1380G>C (p.Met460Ile)
c.726G>C (p.Met242Ile)
c.1170G>C (p.Met390Ile)
9g.135765659G>TCA375501254KCNT1c.1236G>T (p.Met412Ile)
c.1077G>T (p.Met359Ile)
c.984G>T (p.Met328Ile)
c.993G>T (p.Met331Ile)
c.1137G>T (p.Met379Ile)
c.*846G>T (n.*846G>T)
c.1119G>T (p.Met373Ile)
c.1179G>T (p.Met393Ile)
n.1055G>T
c.1101G>T (p.Met367Ile)
c.1371G>T (p.Met457Ile)
c.1380G>T (p.Met460Ile)
c.726G>T (p.Met242Ile)
c.1170G>T (p.Met390Ile)
9g.135765660G>ACA375501258KCNT1c.1237G>A (p.Asp413Asn)
c.1078G>A (p.Asp360Asn)
c.985G>A (p.Asp329Asn)
c.994G>A (p.Asp332Asn)
c.1138G>A (p.Asp380Asn)
c.*847G>A (n.*847G>A)
c.1120G>A (p.Asp374Asn)
c.1180G>A (p.Asp394Asn)
n.1056G>A
c.1102G>A (p.Asp368Asn)
c.1372G>A (p.Asp458Asn)
c.1381G>A (p.Asp461Asn)
c.727G>A (p.Asp243Asn)
c.1171G>A (p.Asp391Asn)
 ClinVar dbSNP
9g.135765660G>CCA375501263KCNT1c.1237G>C (p.Asp413His)
c.1078G>C (p.Asp360His)
c.985G>C (p.Asp329His)
c.994G>C (p.Asp332His)
c.1138G>C (p.Asp380His)
c.*847G>C (n.*847G>C)
c.1120G>C (p.Asp374His)
c.1180G>C (p.Asp394His)
n.1056G>C
c.1102G>C (p.Asp368His)
c.1372G>C (p.Asp458His)
c.1381G>C (p.Asp461His)
c.727G>C (p.Asp243His)
c.1171G>C (p.Asp391His)
9g.135765660G>TCA375501259KCNT1c.1237G>T (p.Asp413Tyr)
c.1078G>T (p.Asp360Tyr)
c.985G>T (p.Asp329Tyr)
c.994G>T (p.Asp332Tyr)
c.1138G>T (p.Asp380Tyr)
c.*847G>T (n.*847G>T)
c.1120G>T (p.Asp374Tyr)
c.1180G>T (p.Asp394Tyr)
n.1056G>T
c.1102G>T (p.Asp368Tyr)
c.1372G>T (p.Asp458Tyr)
c.1381G>T (p.Asp461Tyr)
c.727G>T (p.Asp243Tyr)
c.1171G>T (p.Asp391Tyr)
 gnomAD v4
9g.135765661A>CCA375501266KCNT1c.1238A>C (p.Asp413Ala)
c.1079A>C (p.Asp360Ala)
c.986A>C (p.Asp329Ala)
c.995A>C (p.Asp332Ala)
c.1139A>C (p.Asp380Ala)
c.*848A>C (n.*848A>C)
c.1121A>C (p.Asp374Ala)
c.1181A>C (p.Asp394Ala)
n.1057A>C
c.1103A>C (p.Asp368Ala)
c.1373A>C (p.Asp458Ala)
c.1382A>C (p.Asp461Ala)
c.728A>C (p.Asp243Ala)
c.1172A>C (p.Asp391Ala)
9g.135765661A>GCA375501269KCNT1c.1238A>G (p.Asp413Gly)
c.1079A>G (p.Asp360Gly)
c.986A>G (p.Asp329Gly)
c.995A>G (p.Asp332Gly)
c.1139A>G (p.Asp380Gly)
c.*848A>G (n.*848A>G)
c.1121A>G (p.Asp374Gly)
c.1181A>G (p.Asp394Gly)
n.1057A>G
c.1103A>G (p.Asp368Gly)
c.1373A>G (p.Asp458Gly)
c.1382A>G (p.Asp461Gly)
c.728A>G (p.Asp243Gly)
c.1172A>G (p.Asp391Gly)
9g.135765661A>TCA375501275KCNT1c.1238A>T (p.Asp413Val)
c.1079A>T (p.Asp360Val)
c.986A>T (p.Asp329Val)
c.995A>T (p.Asp332Val)
c.1139A>T (p.Asp380Val)
c.*848A>T (n.*848A>T)
c.1121A>T (p.Asp374Val)
c.1181A>T (p.Asp394Val)
n.1057A>T
c.1103A>T (p.Asp368Val)
c.1373A>T (p.Asp458Val)
c.1382A>T (p.Asp461Val)
c.728A>T (p.Asp243Val)
c.1172A>T (p.Asp391Val)
9g.135765662T>ACA375501276KCNT1c.1239T>A (p.Asp413Glu)
c.1080T>A (p.Asp360Glu)
c.987T>A (p.Asp329Glu)
c.996T>A (p.Asp332Glu)
c.1140T>A (p.Asp380Glu)
c.*849T>A (n.*849T>A)
c.1122T>A (p.Asp374Glu)
c.1182T>A (p.Asp394Glu)
n.1058T>A
c.1104T>A (p.Asp368Glu)
c.1374T>A (p.Asp458Glu)
c.1383T>A (p.Asp461Glu)
c.729T>A (p.Asp243Glu)
c.1173T>A (p.Asp391Glu)
 gnomAD v4
9g.135765662T>CCA467698141KCNT1c.1239T>C (p.Asp413=)
c.1080T>C (p.Asp360=)
c.987T>C (p.Asp329=)
c.996T>C (p.Asp332=)
c.1140T>C (p.Asp380=)
c.*849T>C (n.*849T>C)
c.1122T>C (p.Asp374=)
c.1182T>C (p.Asp394=)
n.1058T>C
c.1104T>C (p.Asp368=)
c.1374T>C (p.Asp458=)
c.1383T>C (p.Asp461=)
c.729T>C (p.Asp243=)
c.1173T>C (p.Asp391=)
 gnomAD v4
9g.135765662T>GCA375501280KCNT1c.1239T>G (p.Asp413Glu)
c.1080T>G (p.Asp360Glu)
c.987T>G (p.Asp329Glu)
c.996T>G (p.Asp332Glu)
c.1140T>G (p.Asp380Glu)
c.*849T>G (n.*849T>G)
c.1122T>G (p.Asp374Glu)
c.1182T>G (p.Asp394Glu)
n.1058T>G
c.1104T>G (p.Asp368Glu)
c.1374T>G (p.Asp458Glu)
c.1383T>G (p.Asp461Glu)
c.729T>G (p.Asp243Glu)
c.1173T>G (p.Asp391Glu)
9g.135765663G>ACA375501288KCNT1c.1240G>A (p.Val414Ile)
c.1081G>A (p.Val361Ile)
c.988G>A (p.Val330Ile)
c.997G>A (p.Val333Ile)
c.1141G>A (p.Val381Ile)
c.*850G>A (n.*850G>A)
c.1123G>A (p.Val375Ile)
c.1183G>A (p.Val395Ile)
n.1059G>A
c.1105G>A (p.Val369Ile)
c.1375G>A (p.Val459Ile)
c.1384G>A (p.Val462Ile)
c.730G>A (p.Val244Ile)
c.1174G>A (p.Val392Ile)
9g.135765663G>CCA375501285KCNT1c.1240G>C (p.Val414Leu)
c.1081G>C (p.Val361Leu)
c.988G>C (p.Val330Leu)
c.997G>C (p.Val333Leu)
c.1141G>C (p.Val381Leu)
c.*850G>C (n.*850G>C)
c.1123G>C (p.Val375Leu)
c.1183G>C (p.Val395Leu)
n.1059G>C
c.1105G>C (p.Val369Leu)
c.1375G>C (p.Val459Leu)
c.1384G>C (p.Val462Leu)
c.730G>C (p.Val244Leu)
c.1174G>C (p.Val392Leu)
9g.135765663G>TCA375501283KCNT1c.1240G>T (p.Val414Phe)
c.1081G>T (p.Val361Phe)
c.988G>T (p.Val330Phe)
c.997G>T (p.Val333Phe)
c.1141G>T (p.Val381Phe)
c.*850G>T (n.*850G>T)
c.1123G>T (p.Val375Phe)
c.1183G>T (p.Val395Phe)
n.1059G>T
c.1105G>T (p.Val369Phe)
c.1375G>T (p.Val459Phe)
c.1384G>T (p.Val462Phe)
c.730G>T (p.Val244Phe)
c.1174G>T (p.Val392Phe)
9g.135765664T>ACA375501291KCNT1c.1241T>A (p.Val414Asp)
c.1082T>A (p.Val361Asp)
c.989T>A (p.Val330Asp)
c.998T>A (p.Val333Asp)
c.1142T>A (p.Val381Asp)
c.*851T>A (n.*851T>A)
c.1124T>A (p.Val375Asp)
c.1184T>A (p.Val395Asp)
n.1060T>A
c.1106T>A (p.Val369Asp)
c.1376T>A (p.Val459Asp)
c.1385T>A (p.Val462Asp)
c.731T>A (p.Val244Asp)
c.1175T>A (p.Val392Asp)
9g.135765664T>CCA375501293KCNT1c.1241T>C (p.Val414Ala)
c.1082T>C (p.Val361Ala)
c.989T>C (p.Val330Ala)
c.998T>C (p.Val333Ala)
c.1142T>C (p.Val381Ala)
c.*851T>C (n.*851T>C)
c.1124T>C (p.Val375Ala)
c.1184T>C (p.Val395Ala)
n.1060T>C
c.1106T>C (p.Val369Ala)
c.1376T>C (p.Val459Ala)
c.1385T>C (p.Val462Ala)
c.731T>C (p.Val244Ala)
c.1175T>C (p.Val392Ala)
9g.135765664T>GCA375501296KCNT1c.1241T>G (p.Val414Gly)
c.1082T>G (p.Val361Gly)
c.989T>G (p.Val330Gly)
c.998T>G (p.Val333Gly)
c.1142T>G (p.Val381Gly)
c.*851T>G (n.*851T>G)
c.1124T>G (p.Val375Gly)
c.1184T>G (p.Val395Gly)
n.1060T>G
c.1106T>G (p.Val369Gly)
c.1376T>G (p.Val459Gly)
c.1385T>G (p.Val462Gly)
c.731T>G (p.Val244Gly)
c.1175T>G (p.Val392Gly)
9g.135765665C>ACA467698142KCNT1c.1242C>A (p.Val414=)
c.1083C>A (p.Val361=)
c.990C>A (p.Val330=)
c.999C>A (p.Val333=)
c.1143C>A (p.Val381=)
c.*852C>A (n.*852C>A)
c.1125C>A (p.Val375=)
c.1185C>A (p.Val395=)
n.1061C>A
c.1107C>A (p.Val369=)
c.1377C>A (p.Val459=)
c.1386C>A (p.Val462=)
c.732C>A (p.Val244=)
c.1176C>A (p.Val392=)
9g.135765665C>GCA467698143KCNT1c.1242C>G (p.Val414=)
c.1083C>G (p.Val361=)
c.990C>G (p.Val330=)
c.999C>G (p.Val333=)
c.1143C>G (p.Val381=)
c.*852C>G (n.*852C>G)
c.1125C>G (p.Val375=)
c.1185C>G (p.Val395=)
n.1061C>G
c.1107C>G (p.Val369=)
c.1377C>G (p.Val459=)
c.1386C>G (p.Val462=)
c.732C>G (p.Val244=)
c.1176C>G (p.Val392=)
9g.135765665C>TCA467698144KCNT1c.1242C>T (p.Val414=)
c.1083C>T (p.Val361=)
c.990C>T (p.Val330=)
c.999C>T (p.Val333=)
c.1143C>T (p.Val381=)
c.*852C>T (n.*852C>T)
c.1125C>T (p.Val375=)
c.1185C>T (p.Val395=)
n.1061C>T
c.1107C>T (p.Val369=)
c.1377C>T (p.Val459=)
c.1386C>T (p.Val462=)
c.732C>T (p.Val244=)
c.1176C>T (p.Val392=)
9g.135765666C>ACA375501300KCNT1c.1243C>A (p.Gln415Lys)
c.1084C>A (p.Gln362Lys)
c.991C>A (p.Gln331Lys)
c.1000C>A (p.Gln334Lys)
c.1144C>A (p.Gln382Lys)
c.*853C>A (n.*853C>A)
c.1126C>A (p.Gln376Lys)
c.1186C>A (p.Gln396Lys)
n.1062C>A
c.1108C>A (p.Gln370Lys)
c.1378C>A (p.Gln460Lys)
c.1387C>A (p.Gln463Lys)
c.733C>A (p.Gln245Lys)
c.1177C>A (p.Gln393Lys)
9g.135765666C>GCA375501304KCNT1c.1243C>G (p.Gln415Glu)
c.1084C>G (p.Gln362Glu)
c.991C>G (p.Gln331Glu)
c.1000C>G (p.Gln334Glu)
c.1144C>G (p.Gln382Glu)
c.*853C>G (n.*853C>G)
c.1126C>G (p.Gln376Glu)
c.1186C>G (p.Gln396Glu)
n.1062C>G
c.1108C>G (p.Gln370Glu)
c.1378C>G (p.Gln460Glu)
c.1387C>G (p.Gln463Glu)
c.733C>G (p.Gln245Glu)
c.1177C>G (p.Gln393Glu)
9g.135765666C>TCA375501306KCNT1c.1243C>T (p.Gln415Ter)
c.1084C>T (p.Gln362Ter)
c.991C>T (p.Gln331Ter)
c.1000C>T (p.Gln334Ter)
c.1144C>T (p.Gln382Ter)
c.*853C>T (n.*853C>T)
c.1126C>T (p.Gln376Ter)
c.1186C>T (p.Gln396Ter)
n.1062C>T
c.1108C>T (p.Gln370Ter)
c.1378C>T (p.Gln460Ter)
c.1387C>T (p.Gln463Ter)
c.733C>T (p.Gln245Ter)
c.1177C>T (p.Gln393Ter)
9g.135765667A>CCA375501313KCNT1c.1244A>C (p.Gln415Pro)
c.1085A>C (p.Gln362Pro)
c.992A>C (p.Gln331Pro)
c.1001A>C (p.Gln334Pro)
c.1145A>C (p.Gln382Pro)
c.*854A>C (n.*854A>C)
c.1127A>C (p.Gln376Pro)
c.1187A>C (p.Gln396Pro)
n.1063A>C
c.1109A>C (p.Gln370Pro)
c.1379A>C (p.Gln460Pro)
c.1388A>C (p.Gln463Pro)
c.734A>C (p.Gln245Pro)
c.1178A>C (p.Gln393Pro)
9g.135765667A>GCA375501309KCNT1c.1244A>G (p.Gln415Arg)
c.1085A>G (p.Gln362Arg)
c.992A>G (p.Gln331Arg)
c.1001A>G (p.Gln334Arg)
c.1145A>G (p.Gln382Arg)
c.*854A>G (n.*854A>G)
c.1127A>G (p.Gln376Arg)
c.1187A>G (p.Gln396Arg)
n.1063A>G
c.1109A>G (p.Gln370Arg)
c.1379A>G (p.Gln460Arg)
c.1388A>G (p.Gln463Arg)
c.734A>G (p.Gln245Arg)
c.1178A>G (p.Gln393Arg)
9g.135765667A>TCA375501311KCNT1c.1244A>T (p.Gln415Leu)
c.1085A>T (p.Gln362Leu)
c.992A>T (p.Gln331Leu)
c.1001A>T (p.Gln334Leu)
c.1145A>T (p.Gln382Leu)
c.*854A>T (n.*854A>T)
c.1127A>T (p.Gln376Leu)
c.1187A>T (p.Gln396Leu)
n.1063A>T
c.1109A>T (p.Gln370Leu)
c.1379A>T (p.Gln460Leu)
c.1388A>T (p.Gln463Leu)
c.734A>T (p.Gln245Leu)
c.1178A>T (p.Gln393Leu)
 COSMIC COSMIC
9g.135765668G>ACA467698145KCNT1c.1245G>A (p.Gln415=)
c.1086G>A (p.Gln362=)
c.993G>A (p.Gln331=)
c.1002G>A (p.Gln334=)
c.1146G>A (p.Gln382=)
c.*855G>A (n.*855G>A)
c.1128G>A (p.Gln376=)
c.1188G>A (p.Gln396=)
n.1064G>A
c.1110G>A (p.Gln370=)
c.1380G>A (p.Gln460=)
c.1389G>A (p.Gln463=)
c.735G>A (p.Gln245=)
c.1179G>A (p.Gln393=)
9g.135765668G>CCA375501316KCNT1c.1245G>C (p.Gln415His)
c.1086G>C (p.Gln362His)
c.993G>C (p.Gln331His)
c.1002G>C (p.Gln334His)
c.1146G>C (p.Gln382His)
c.*855G>C (n.*855G>C)
c.1128G>C (p.Gln376His)
c.1188G>C (p.Gln396His)
n.1064G>C
c.1110G>C (p.Gln370His)
c.1380G>C (p.Gln460His)
c.1389G>C (p.Gln463His)
c.735G>C (p.Gln245His)
c.1179G>C (p.Gln393His)
 ClinVar
9g.135765668G>TCA375501319KCNT1c.1245G>T (p.Gln415His)
c.1086G>T (p.Gln362His)
c.993G>T (p.Gln331His)
c.1002G>T (p.Gln334His)
c.1146G>T (p.Gln382His)
c.*855G>T (n.*855G>T)
c.1128G>T (p.Gln376His)
c.1188G>T (p.Gln396His)
n.1064G>T
c.1110G>T (p.Gln370His)
c.1380G>T (p.Gln460His)
c.1389G>T (p.Gln463His)
c.735G>T (p.Gln245His)
c.1179G>T (p.Gln393His)
9g.135765669delCA2579510819KCNT1c.1246del (p.Val416CysfsTer?)
c.1087del (p.Val363CysfsTer?)
c.994del (p.Val332CysfsTer?)
c.1003del (p.Val335CysfsTer?)
c.1147del (p.Val383CysfsTer?)
c.*856del (n.*856del)
c.1129del (p.Val377CysfsTer?)
c.1189del (p.Val397CysfsTer?)
n.1065del
c.1111del (p.Val371CysfsTer?)
c.1381del (p.Val461CysfsTer?)
c.1390del (p.Val464CysfsTer?)
c.736del (p.Val246CysfsTer?)
c.1180del (p.Val394CysfsTer?)
9g.135765669G>ACA375501323KCNT1c.1246G>A (p.Val416Met)
c.1087G>A (p.Val363Met)
c.994G>A (p.Val332Met)
c.1003G>A (p.Val335Met)
c.1147G>A (p.Val383Met)
c.*856G>A (n.*856G>A)
c.1129G>A (p.Val377Met)
c.1189G>A (p.Val397Met)
n.1065G>A
c.1111G>A (p.Val371Met)
c.1381G>A (p.Val461Met)
c.1390G>A (p.Val464Met)
c.736G>A (p.Val246Met)
c.1180G>A (p.Val394Met)
 gnomAD v4 COSMIC COSMIC
9g.135765669G>CCA375501324KCNT1c.1246G>C (p.Val416Leu)
c.1087G>C (p.Val363Leu)
c.994G>C (p.Val332Leu)
c.1003G>C (p.Val335Leu)
c.1147G>C (p.Val383Leu)
c.*856G>C (n.*856G>C)
c.1129G>C (p.Val377Leu)
c.1189G>C (p.Val397Leu)
n.1065G>C
c.1111G>C (p.Val371Leu)
c.1381G>C (p.Val461Leu)
c.1390G>C (p.Val464Leu)
c.736G>C (p.Val246Leu)
c.1180G>C (p.Val394Leu)
9g.135765669G>TCA375501331KCNT1c.1246G>T (p.Val416Leu)
c.1087G>T (p.Val363Leu)
c.994G>T (p.Val332Leu)
c.1003G>T (p.Val335Leu)
c.1147G>T (p.Val383Leu)
c.*856G>T (n.*856G>T)
c.1129G>T (p.Val377Leu)
c.1189G>T (p.Val397Leu)
n.1065G>T
c.1111G>T (p.Val371Leu)
c.1381G>T (p.Val461Leu)
c.1390G>T (p.Val464Leu)
c.736G>T (p.Val246Leu)
c.1180G>T (p.Val394Leu)
9g.135765670T>ACA375501332KCNT1c.1247T>A (p.Val416Glu)
c.1088T>A (p.Val363Glu)
c.995T>A (p.Val332Glu)
c.1004T>A (p.Val335Glu)
c.1148T>A (p.Val383Glu)
c.*857T>A (n.*857T>A)
c.1130T>A (p.Val377Glu)
c.1190T>A (p.Val397Glu)
n.1066T>A
c.1112T>A (p.Val371Glu)
c.1382T>A (p.Val461Glu)
c.1391T>A (p.Val464Glu)
c.737T>A (p.Val246Glu)
c.1181T>A (p.Val394Glu)
9g.135765670T>CCA375501335KCNT1c.1247T>C (p.Val416Ala)
c.1088T>C (p.Val363Ala)
c.995T>C (p.Val332Ala)
c.1004T>C (p.Val335Ala)
c.1148T>C (p.Val383Ala)
c.*857T>C (n.*857T>C)
c.1130T>C (p.Val377Ala)
c.1190T>C (p.Val397Ala)
n.1066T>C
c.1112T>C (p.Val371Ala)
c.1382T>C (p.Val461Ala)
c.1391T>C (p.Val464Ala)
c.737T>C (p.Val246Ala)
c.1181T>C (p.Val394Ala)
9g.135765670T>GCA375501338KCNT1c.1247T>G (p.Val416Gly)
c.1088T>G (p.Val363Gly)
c.995T>G (p.Val332Gly)
c.1004T>G (p.Val335Gly)
c.1148T>G (p.Val383Gly)
c.*857T>G (n.*857T>G)
c.1130T>G (p.Val377Gly)
c.1190T>G (p.Val397Gly)
n.1066T>G
c.1112T>G (p.Val371Gly)
c.1382T>G (p.Val461Gly)
c.1391T>G (p.Val464Gly)
c.737T>G (p.Val246Gly)
c.1181T>G (p.Val394Gly)
9g.135765671delCA2692516594KCNT1c.1248del (p.Arg417AlafsTer?)
c.1089del (p.Arg364AlafsTer?)
c.996del (p.Arg333AlafsTer?)
c.1005del (p.Arg336AlafsTer?)
c.1149del (p.Arg384AlafsTer?)
c.*858del (n.*858del)
c.1131del (p.Arg378AlafsTer?)
c.1191del (p.Arg398AlafsTer?)
n.1067del
c.1113del (p.Arg372AlafsTer?)
c.1383del (p.Arg462AlafsTer?)
c.1392del (p.Arg465AlafsTer?)
c.738del (p.Arg247AlafsTer?)
c.1182del (p.Arg395AlafsTer?)
 gnomAD v4
9g.135765671G>ACA5326833KCNT1c.1248G>A (p.Val416=)
c.1089G>A (p.Val363=)
c.996G>A (p.Val332=)
c.1005G>A (p.Val335=)
c.1149G>A (p.Val383=)
c.*858G>A (n.*858G>A)
c.1131G>A (p.Val377=)
c.1191G>A (p.Val397=)
n.1067G>A
c.1113G>A (p.Val371=)
c.1383G>A (p.Val461=)
c.1392G>A (p.Val464=)
c.738G>A (p.Val246=)
c.1182G>A (p.Val394=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135765671G>CCA467698146KCNT1c.1248G>C (p.Val416=)
c.1089G>C (p.Val363=)
c.996G>C (p.Val332=)
c.1005G>C (p.Val335=)
c.1149G>C (p.Val383=)
c.*858G>C (n.*858G>C)
c.1131G>C (p.Val377=)
c.1191G>C (p.Val397=)
n.1067G>C
c.1113G>C (p.Val371=)
c.1383G>C (p.Val461=)
c.1392G>C (p.Val464=)
c.738G>C (p.Val246=)
c.1182G>C (p.Val394=)
9g.135765671G=CA1883866676KCNT1c.1248G= (p.Val416=)
c.1089G= (p.Val363=)
c.996G= (p.Val332=)
c.1005G= (p.Val335=)
c.1149G= (p.Val383=)
c.*858G= (n.*858G=)
c.1131G= (p.Val377=)
c.1191G= (p.Val397=)
n.1067G=
c.1113G= (p.Val371=)
c.1383G= (p.Val461=)
c.1392G= (p.Val464=)
c.738G= (p.Val246=)
c.1182G= (p.Val394=)
9g.135765671G>TCA467698147KCNT1c.1248G>T (p.Val416=)
c.1089G>T (p.Val363=)
c.996G>T (p.Val332=)
c.1005G>T (p.Val335=)
c.1149G>T (p.Val383=)
c.*858G>T (n.*858G>T)
c.1131G>T (p.Val377=)
c.1191G>T (p.Val397=)
n.1067G>T
c.1113G>T (p.Val371=)
c.1383G>T (p.Val461=)
c.1392G>T (p.Val464=)
c.738G>T (p.Val246=)
c.1182G>T (p.Val394=)
9g.135765672C>ACA375501342KCNT1c.1249C>A (p.Arg417Ser)
c.1090C>A (p.Arg364Ser)
c.997C>A (p.Arg333Ser)
c.1006C>A (p.Arg336Ser)
c.1150C>A (p.Arg384Ser)
c.*859C>A (n.*859C>A)
c.1132C>A (p.Arg378Ser)
c.1192C>A (p.Arg398Ser)
n.1068C>A
c.1114C>A (p.Arg372Ser)
c.1384C>A (p.Arg462Ser)
c.1393C>A (p.Arg465Ser)
c.739C>A (p.Arg247Ser)
c.1183C>A (p.Arg395Ser)
9g.135765672C=CA1883866677KCNT1c.1249C= (p.Arg417=)
c.1090C= (p.Arg364=)
c.997C= (p.Arg333=)
c.1006C= (p.Arg336=)
c.1150C= (p.Arg384=)
c.*859C= (n.*859C=)
c.1132C= (p.Arg378=)
c.1192C= (p.Arg398=)
n.1068C=
c.1114C= (p.Arg372=)
c.1384C= (p.Arg462=)
c.1393C= (p.Arg465=)
c.739C= (p.Arg247=)
c.1183C= (p.Arg395=)
9g.135765672C>GCA375501345KCNT1c.1249C>G (p.Arg417Gly)
c.1090C>G (p.Arg364Gly)
c.997C>G (p.Arg333Gly)
c.1006C>G (p.Arg336Gly)
c.1150C>G (p.Arg384Gly)
c.*859C>G (n.*859C>G)
c.1132C>G (p.Arg378Gly)
c.1192C>G (p.Arg398Gly)
n.1068C>G
c.1114C>G (p.Arg372Gly)
c.1384C>G (p.Arg462Gly)
c.1393C>G (p.Arg465Gly)
c.739C>G (p.Arg247Gly)
c.1183C>G (p.Arg395Gly)
 ClinVar dbSNP gnomAD v4
9g.135765672C>TCA5326834KCNT1c.1249C>T (p.Arg417Cys)
c.1090C>T (p.Arg364Cys)
c.997C>T (p.Arg333Cys)
c.1006C>T (p.Arg336Cys)
c.1150C>T (p.Arg384Cys)
c.*859C>T (n.*859C>T)
c.1132C>T (p.Arg378Cys)
c.1192C>T (p.Arg398Cys)
n.1068C>T
c.1114C>T (p.Arg372Cys)
c.1384C>T (p.Arg462Cys)
c.1393C>T (p.Arg465Cys)
c.739C>T (p.Arg247Cys)
c.1183C>T (p.Arg395Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135765673G>ACA5326835KCNT1c.1250G>A (p.Arg417His)
c.1091G>A (p.Arg364His)
c.998G>A (p.Arg333His)
c.1007G>A (p.Arg336His)
c.1151G>A (p.Arg384His)
c.*860G>A (n.*860G>A)
c.1133G>A (p.Arg378His)
c.1193G>A (p.Arg398His)
n.1069G>A
c.1115G>A (p.Arg372His)
c.1385G>A (p.Arg462His)
c.1394G>A (p.Arg465His)
c.740G>A (p.Arg247His)
c.1184G>A (p.Arg395His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.135765673G>CCA375501356KCNT1c.1250G>C (p.Arg417Pro)
c.1091G>C (p.Arg364Pro)
c.998G>C (p.Arg333Pro)
c.1007G>C (p.Arg336Pro)
c.1151G>C (p.Arg384Pro)
c.*860G>C (n.*860G>C)
c.1133G>C (p.Arg378Pro)
c.1193G>C (p.Arg398Pro)
n.1069G>C
c.1115G>C (p.Arg372Pro)
c.1385G>C (p.Arg462Pro)
c.1394G>C (p.Arg465Pro)
c.740G>C (p.Arg247Pro)
c.1184G>C (p.Arg395Pro)
9g.135765673G=CA1883866678KCNT1c.1250G= (p.Arg417=)
c.1091G= (p.Arg364=)
c.998G= (p.Arg333=)
c.1007G= (p.Arg336=)
c.1151G= (p.Arg384=)
c.*860G= (n.*860G=)
c.1133G= (p.Arg378=)
c.1193G= (p.Arg398=)
n.1069G=
c.1115G= (p.Arg372=)
c.1385G= (p.Arg462=)
c.1394G= (p.Arg465=)
c.740G= (p.Arg247=)
c.1184G= (p.Arg395=)
9g.135765673G>TCA5326836KCNT1c.1250G>T (p.Arg417Leu)
c.1091G>T (p.Arg364Leu)
c.998G>T (p.Arg333Leu)
c.1007G>T (p.Arg336Leu)
c.1151G>T (p.Arg384Leu)
c.*860G>T (n.*860G>T)
c.1133G>T (p.Arg378Leu)
c.1193G>T (p.Arg398Leu)
n.1069G>T
c.1115G>T (p.Arg372Leu)
c.1385G>T (p.Arg462Leu)
c.1394G>T (p.Arg465Leu)
c.740G>T (p.Arg247Leu)
c.1184G>T (p.Arg395Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135765674C>ACA467698148KCNT1c.1251C>A (p.Arg417=)
c.1092C>A (p.Arg364=)
c.999C>A (p.Arg333=)
c.1008C>A (p.Arg336=)
c.1152C>A (p.Arg384=)
c.*861C>A (n.*861C>A)
c.1134C>A (p.Arg378=)
c.1194C>A (p.Arg398=)
n.1070C>A
c.1116C>A (p.Arg372=)
c.1386C>A (p.Arg462=)
c.1395C>A (p.Arg465=)
c.741C>A (p.Arg247=)
c.1185C>A (p.Arg395=)
9g.135765674C=CA1883866679KCNT1c.1251C= (p.Arg417=)
c.1092C= (p.Arg364=)
c.999C= (p.Arg333=)
c.1008C= (p.Arg336=)
c.1152C= (p.Arg384=)
c.*861C= (n.*861C=)
c.1134C= (p.Arg378=)
c.1194C= (p.Arg398=)
n.1070C=
c.1116C= (p.Arg372=)
c.1386C= (p.Arg462=)
c.1395C= (p.Arg465=)
c.741C= (p.Arg247=)
c.1185C= (p.Arg395=)
9g.135765674C>GCA467698150KCNT1c.1251C>G (p.Arg417=)
c.1092C>G (p.Arg364=)
c.999C>G (p.Arg333=)
c.1008C>G (p.Arg336=)
c.1152C>G (p.Arg384=)
c.*861C>G (n.*861C>G)
c.1134C>G (p.Arg378=)
c.1194C>G (p.Arg398=)
n.1070C>G
c.1116C>G (p.Arg372=)
c.1386C>G (p.Arg462=)
c.1395C>G (p.Arg465=)
c.741C>G (p.Arg247=)
c.1185C>G (p.Arg395=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.135765674C>TCA467698149KCNT1c.1251C>T (p.Arg417=)
c.1092C>T (p.Arg364=)
c.999C>T (p.Arg333=)
c.1008C>T (p.Arg336=)
c.1152C>T (p.Arg384=)
c.*861C>T (n.*861C>T)
c.1134C>T (p.Arg378=)
c.1194C>T (p.Arg398=)
n.1070C>T
c.1116C>T (p.Arg372=)
c.1386C>T (p.Arg462=)
c.1395C>T (p.Arg465=)
c.741C>T (p.Arg247=)
c.1185C>T (p.Arg395=)
 dbSNP gnomAD v4
9g.135765675A>CCA467698151KCNT1c.1252A>C (p.Arg418=)
c.1093A>C (p.Arg365=)
c.1000A>C (p.Arg334=)
c.1009A>C (p.Arg337=)
c.1153A>C (p.Arg385=)
c.*862A>C (n.*862A>C)
c.1135A>C (p.Arg379=)
c.1195A>C (p.Arg399=)
n.1071A>C
c.1117A>C (p.Arg373=)
c.1387A>C (p.Arg463=)
c.1396A>C (p.Arg466=)
c.742A>C (p.Arg248=)
c.1186A>C (p.Arg396=)
9g.135765675A>GCA375501359KCNT1c.1252A>G (p.Arg418Gly)
c.1093A>G (p.Arg365Gly)
c.1000A>G (p.Arg334Gly)
c.1009A>G (p.Arg337Gly)
c.1153A>G (p.Arg385Gly)
c.*862A>G (n.*862A>G)
c.1135A>G (p.Arg379Gly)
c.1195A>G (p.Arg399Gly)
n.1071A>G
c.1117A>G (p.Arg373Gly)
c.1387A>G (p.Arg463Gly)
c.1396A>G (p.Arg466Gly)
c.742A>G (p.Arg248Gly)
c.1186A>G (p.Arg396Gly)
9g.135765675A>TCA375501361KCNT1c.1252A>T (p.Arg418Ter)
c.1093A>T (p.Arg365Ter)
c.1000A>T (p.Arg334Ter)
c.1009A>T (p.Arg337Ter)
c.1153A>T (p.Arg385Ter)
c.*862A>T (n.*862A>T)
c.1135A>T (p.Arg379Ter)
c.1195A>T (p.Arg399Ter)
n.1071A>T
c.1117A>T (p.Arg373Ter)
c.1387A>T (p.Arg463Ter)
c.1396A>T (p.Arg466Ter)
c.742A>T (p.Arg248Ter)
c.1186A>T (p.Arg396Ter)
9g.135765676_135765687dupCA860983532KCNT1c.1253_1264dup (p.Gln421_Ile422insArgValLeuGln)
c.1094_1105dup (p.Gln368_Ile369insArgValLeuGln)
c.1001_1012dup (p.Gln337_Ile338insArgValLeuGln)
c.1010_1021dup (p.Gln340_Ile341insArgValLeuGln)
c.1154_1165dup (p.Gln388_Ile389insArgValLeuGln)
c.*863_*874dup (n.*863_*874dup)
c.1136_1147dup (p.Gln382_Ile383insArgValLeuGln)
c.1196_1207dup (p.Gln402_Ile403insArgValLeuGln)
n.1072_1083dup
c.1118_1129dup (p.Gln376_Ile377insArgValLeuGln)
c.1388_1399dup (p.Gln466_Ile467insArgValLeuGln)
c.1397_1408dup (p.Gln469_Ile470insArgValLeuGln)
c.743_754dup (p.Gln251_Ile252insArgValLeuGln)
c.1187_1198dup (p.Gln399_Ile400insArgValLeuGln)
 dbSNP
9g.135765676G>ACA10605353KCNT1c.1253G>A (p.Arg418Lys)
c.1094G>A (p.Arg365Lys)
c.1001G>A (p.Arg334Lys)
c.1010G>A (p.Arg337Lys)
c.1154G>A (p.Arg385Lys)
c.*863G>A (n.*863G>A)
c.1136G>A (p.Arg379Lys)
c.1196G>A (p.Arg399Lys)
n.1072G>A
c.1118G>A (p.Arg373Lys)
c.1388G>A (p.Arg463Lys)
c.1397G>A (p.Arg466Lys)
c.743G>A (p.Arg248Lys)
c.1187G>A (p.Arg396Lys)
 ClinVar dbSNP
9g.135765676G>CCA375501364KCNT1c.1253G>C (p.Arg418Thr)
c.1094G>C (p.Arg365Thr)
c.1001G>C (p.Arg334Thr)
c.1010G>C (p.Arg337Thr)
c.1154G>C (p.Arg385Thr)
c.*863G>C (n.*863G>C)
c.1136G>C (p.Arg379Thr)
c.1196G>C (p.Arg399Thr)
n.1072G>C
c.1118G>C (p.Arg373Thr)
c.1388G>C (p.Arg463Thr)
c.1397G>C (p.Arg466Thr)
c.743G>C (p.Arg248Thr)
c.1187G>C (p.Arg396Thr)
 COSMIC COSMIC
9g.135765676G=CA1883866680KCNT1c.1253G= (p.Arg418=)
c.1094G= (p.Arg365=)
c.1001G= (p.Arg334=)
c.1010G= (p.Arg337=)
c.1154G= (p.Arg385=)
c.*863G= (n.*863G=)
c.1136G= (p.Arg379=)
c.1196G= (p.Arg399=)
n.1072G=
c.1118G= (p.Arg373=)
c.1388G= (p.Arg463=)
c.1397G= (p.Arg466=)
c.743G= (p.Arg248=)
c.1187G= (p.Arg396=)
9g.135765676G>TCA375501368KCNT1c.1253G>T (p.Arg418Ile)
c.1094G>T (p.Arg365Ile)
c.1001G>T (p.Arg334Ile)
c.1010G>T (p.Arg337Ile)
c.1154G>T (p.Arg385Ile)
c.*863G>T (n.*863G>T)
c.1136G>T (p.Arg379Ile)
c.1196G>T (p.Arg399Ile)
n.1072G>T
c.1118G>T (p.Arg373Ile)
c.1388G>T (p.Arg463Ile)
c.1397G>T (p.Arg466Ile)
c.743G>T (p.Arg248Ile)
c.1187G>T (p.Arg396Ile)
9g.135765677A=CA1883866681KCNT1c.1254A= (p.Arg418=)
c.1095A= (p.Arg365=)
c.1002A= (p.Arg334=)
c.1011A= (p.Arg337=)
c.1155A= (p.Arg385=)
c.*864A= (n.*864A=)
c.1137A= (p.Arg379=)
c.1197A= (p.Arg399=)
n.1073A=
c.1119A= (p.Arg373=)
c.1389A= (p.Arg463=)
c.1398A= (p.Arg466=)
c.744A= (p.Arg248=)
c.1188A= (p.Arg396=)
9g.135765677A>CCA375501371KCNT1c.1254A>C (p.Arg418Ser)
c.1095A>C (p.Arg365Ser)
c.1002A>C (p.Arg334Ser)
c.1011A>C (p.Arg337Ser)
c.1155A>C (p.Arg385Ser)
c.*864A>C (n.*864A>C)
c.1137A>C (p.Arg379Ser)
c.1197A>C (p.Arg399Ser)
n.1073A>C
c.1119A>C (p.Arg373Ser)
c.1389A>C (p.Arg463Ser)
c.1398A>C (p.Arg466Ser)
c.744A>C (p.Arg248Ser)
c.1188A>C (p.Arg396Ser)
 ClinVar dbSNP gnomAD v2
9g.135765677A>GCA467698152KCNT1c.1254A>G (p.Arg418=)
c.1095A>G (p.Arg365=)
c.1002A>G (p.Arg334=)
c.1011A>G (p.Arg337=)
c.1155A>G (p.Arg385=)
c.*864A>G (n.*864A>G)
c.1137A>G (p.Arg379=)
c.1197A>G (p.Arg399=)
n.1073A>G
c.1119A>G (p.Arg373=)
c.1389A>G (p.Arg463=)
c.1398A>G (p.Arg466=)
c.744A>G (p.Arg248=)
c.1188A>G (p.Arg396=)
9g.135765677A>TCA375501374KCNT1c.1254A>T (p.Arg418Ser)
c.1095A>T (p.Arg365Ser)
c.1002A>T (p.Arg334Ser)
c.1011A>T (p.Arg337Ser)
c.1155A>T (p.Arg385Ser)
c.*864A>T (n.*864A>T)
c.1137A>T (p.Arg379Ser)
c.1197A>T (p.Arg399Ser)
n.1073A>T
c.1119A>T (p.Arg373Ser)
c.1389A>T (p.Arg463Ser)
c.1398A>T (p.Arg466Ser)
c.744A>T (p.Arg248Ser)
c.1188A>T (p.Arg396Ser)
9g.135765678G>ACA375501376KCNT1c.1255G>A (p.Val419Ile)
c.1096G>A (p.Val366Ile)
c.1003G>A (p.Val335Ile)
c.1012G>A (p.Val338Ile)
c.1156G>A (p.Val386Ile)
c.*865G>A (n.*865G>A)
c.1138G>A (p.Val380Ile)
c.1198G>A (p.Val400Ile)
n.1074G>A
c.1120G>A (p.Val374Ile)
c.1390G>A (p.Val464Ile)
c.1399G>A (p.Val467Ile)
c.745G>A (p.Val249Ile)
c.1189G>A (p.Val397Ile)
 gnomAD v4
9g.135765678G>CCA375501378KCNT1c.1255G>C (p.Val419Leu)
c.1096G>C (p.Val366Leu)
c.1003G>C (p.Val335Leu)
c.1012G>C (p.Val338Leu)
c.1156G>C (p.Val386Leu)
c.*865G>C (n.*865G>C)
c.1138G>C (p.Val380Leu)
c.1198G>C (p.Val400Leu)
n.1074G>C
c.1120G>C (p.Val374Leu)
c.1390G>C (p.Val464Leu)
c.1399G>C (p.Val467Leu)
c.745G>C (p.Val249Leu)
c.1189G>C (p.Val397Leu)
 gnomAD v4
9g.135765678G>TCA375501381KCNT1c.1255G>T (p.Val419Phe)
c.1096G>T (p.Val366Phe)
c.1003G>T (p.Val335Phe)
c.1012G>T (p.Val338Phe)
c.1156G>T (p.Val386Phe)
c.*865G>T (n.*865G>T)
c.1138G>T (p.Val380Phe)
c.1198G>T (p.Val400Phe)
n.1074G>T
c.1120G>T (p.Val374Phe)
c.1390G>T (p.Val464Phe)
c.1399G>T (p.Val467Phe)
c.745G>T (p.Val249Phe)
c.1189G>T (p.Val397Phe)
9g.135765679T>ACA375501390KCNT1c.1256T>A (p.Val419Asp)
c.1097T>A (p.Val366Asp)
c.1004T>A (p.Val335Asp)
c.1013T>A (p.Val338Asp)
c.1157T>A (p.Val386Asp)
c.*866T>A (n.*866T>A)
c.1139T>A (p.Val380Asp)
c.1199T>A (p.Val400Asp)
n.1075T>A
c.1121T>A (p.Val374Asp)
c.1391T>A (p.Val464Asp)
c.1400T>A (p.Val467Asp)
c.746T>A (p.Val249Asp)
c.1190T>A (p.Val397Asp)
9g.135765679T>CCA375501394KCNT1c.1256T>C (p.Val419Ala)
c.1097T>C (p.Val366Ala)
c.1004T>C (p.Val335Ala)
c.1013T>C (p.Val338Ala)
c.1157T>C (p.Val386Ala)
c.*866T>C (n.*866T>C)
c.1139T>C (p.Val380Ala)
c.1199T>C (p.Val400Ala)
n.1075T>C
c.1121T>C (p.Val374Ala)
c.1391T>C (p.Val464Ala)
c.1400T>C (p.Val467Ala)
c.746T>C (p.Val249Ala)
c.1190T>C (p.Val397Ala)
 gnomAD v4
9g.135765679T>GCA375501396KCNT1c.1256T>G (p.Val419Gly)
c.1097T>G (p.Val366Gly)
c.1004T>G (p.Val335Gly)
c.1013T>G (p.Val338Gly)
c.1157T>G (p.Val386Gly)
c.*866T>G (n.*866T>G)
c.1139T>G (p.Val380Gly)
c.1199T>G (p.Val400Gly)
n.1075T>G
c.1121T>G (p.Val374Gly)
c.1391T>G (p.Val464Gly)
c.1400T>G (p.Val467Gly)
c.746T>G (p.Val249Gly)
c.1190T>G (p.Val397Gly)
9g.135765680C>ACA467698153KCNT1c.1257C>A (p.Val419=)
c.1098C>A (p.Val366=)
c.1005C>A (p.Val335=)
c.1014C>A (p.Val338=)
c.1158C>A (p.Val386=)
c.*867C>A (n.*867C>A)
c.1140C>A (p.Val380=)
c.1200C>A (p.Val400=)
n.1076C>A
c.1122C>A (p.Val374=)
c.1392C>A (p.Val464=)
c.1401C>A (p.Val467=)
c.747C>A (p.Val249=)
c.1191C>A (p.Val397=)
9g.135765680C=CA1883866682KCNT1c.1257C= (p.Val419=)
c.1098C= (p.Val366=)
c.1005C= (p.Val335=)
c.1014C= (p.Val338=)
c.1158C= (p.Val386=)
c.*867C= (n.*867C=)
c.1140C= (p.Val380=)
c.1200C= (p.Val400=)
n.1076C=
c.1122C= (p.Val374=)
c.1392C= (p.Val464=)
c.1401C= (p.Val467=)
c.747C= (p.Val249=)
c.1191C= (p.Val397=)
9g.135765680C>GCA231204KCNT1c.1257C>G (p.Val419=)
c.1098C>G (p.Val366=)
c.1005C>G (p.Val335=)
c.1014C>G (p.Val338=)
c.1158C>G (p.Val386=)
c.*867C>G (n.*867C>G)
c.1140C>G (p.Val380=)
c.1200C>G (p.Val400=)
n.1076C>G
c.1122C>G (p.Val374=)
c.1392C>G (p.Val464=)
c.1401C>G (p.Val467=)
c.747C>G (p.Val249=)
c.1191C>G (p.Val397=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135765680C>TCA467698154KCNT1c.1257C>T (p.Val419=)
c.1098C>T (p.Val366=)
c.1005C>T (p.Val335=)
c.1014C>T (p.Val338=)
c.1158C>T (p.Val386=)
c.*867C>T (n.*867C>T)
c.1140C>T (p.Val380=)
c.1200C>T (p.Val400=)
n.1076C>T
c.1122C>T (p.Val374=)
c.1392C>T (p.Val464=)
c.1401C>T (p.Val467=)
c.747C>T (p.Val249=)
c.1191C>T (p.Val397=)
9g.135765683_135765692dupCA2580080060KCNT1c.1260_1269dup (p.Leu424AlafsTer?)
c.1101_1110dup (p.Leu371AlafsTer?)
c.1008_1017dup (p.Leu340AlafsTer?)
c.1017_1026dup (p.Leu343AlafsTer?)
c.1161_1170dup (p.Leu391AlafsTer?)
c.*870_*879dup (n.*870_*879dup)
c.1143_1152dup (p.Leu385AlafsTer?)
c.1203_1212dup (p.Leu405AlafsTer?)
n.1079_1088dup
c.1125_1134dup (p.Leu379AlafsTer?)
c.1395_1404dup (p.Leu469AlafsTer?)
c.1404_1413dup (p.Leu472AlafsTer?)
c.750_759dup (p.Leu254AlafsTer?)
c.1194_1203dup (p.Leu402AlafsTer?)
 ClinVar
9g.135765681C>ACA375501399KCNT1c.1258C>A (p.Leu420Met)
c.1099C>A (p.Leu367Met)
c.1006C>A (p.Leu336Met)
c.1015C>A (p.Leu339Met)
c.1159C>A (p.Leu387Met)
c.*868C>A (n.*868C>A)
c.1141C>A (p.Leu381Met)
c.1201C>A (p.Leu401Met)
n.1077C>A
c.1123C>A (p.Leu375Met)
c.1393C>A (p.Leu465Met)
c.1402C>A (p.Leu468Met)
c.748C>A (p.Leu250Met)
c.1192C>A (p.Leu398Met)
9g.135765681C=CA1883866683KCNT1c.1258C= (p.Leu420=)
c.1099C= (p.Leu367=)
c.1006C= (p.Leu336=)
c.1015C= (p.Leu339=)
c.1159C= (p.Leu387=)
c.*868C= (n.*868C=)
c.1141C= (p.Leu381=)
c.1201C= (p.Leu401=)
n.1077C=
c.1123C= (p.Leu375=)
c.1393C= (p.Leu465=)
c.1402C= (p.Leu468=)
c.748C= (p.Leu250=)
c.1192C= (p.Leu398=)
9g.135765681C>GCA375501404KCNT1c.1258C>G (p.Leu420Val)
c.1099C>G (p.Leu367Val)
c.1006C>G (p.Leu336Val)
c.1015C>G (p.Leu339Val)
c.1159C>G (p.Leu387Val)
c.*868C>G (n.*868C>G)
c.1141C>G (p.Leu381Val)
c.1201C>G (p.Leu401Val)
n.1077C>G
c.1123C>G (p.Leu375Val)
c.1393C>G (p.Leu465Val)
c.1402C>G (p.Leu468Val)
c.748C>G (p.Leu250Val)
c.1192C>G (p.Leu398Val)
9g.135765681C>TCA5326837KCNT1c.1258C>T (p.Leu420=)
c.1099C>T (p.Leu367=)
c.1006C>T (p.Leu336=)
c.1015C>T (p.Leu339=)
c.1159C>T (p.Leu387=)
c.*868C>T (n.*868C>T)
c.1141C>T (p.Leu381=)
c.1201C>T (p.Leu401=)
n.1077C>T
c.1123C>T (p.Leu375=)
c.1393C>T (p.Leu465=)
c.1402C>T (p.Leu468=)
c.748C>T (p.Leu250=)
c.1192C>T (p.Leu398=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135765682T>ACA375501409KCNT1c.1259T>A (p.Leu420Gln)
c.1100T>A (p.Leu367Gln)
c.1007T>A (p.Leu336Gln)
c.1016T>A (p.Leu339Gln)
c.1160T>A (p.Leu387Gln)
c.*869T>A (n.*869T>A)
c.1142T>A (p.Leu381Gln)
c.1202T>A (p.Leu401Gln)
n.1078T>A
c.1124T>A (p.Leu375Gln)
c.1394T>A (p.Leu465Gln)
c.1403T>A (p.Leu468Gln)
c.749T>A (p.Leu250Gln)
c.1193T>A (p.Leu398Gln)
9g.135765682T>CCA375501411KCNT1c.1259T>C (p.Leu420Pro)
c.1100T>C (p.Leu367Pro)
c.1007T>C (p.Leu336Pro)
c.1016T>C (p.Leu339Pro)
c.1160T>C (p.Leu387Pro)
c.*869T>C (n.*869T>C)
c.1142T>C (p.Leu381Pro)
c.1202T>C (p.Leu401Pro)
n.1078T>C
c.1124T>C (p.Leu375Pro)
c.1394T>C (p.Leu465Pro)
c.1403T>C (p.Leu468Pro)
c.749T>C (p.Leu250Pro)
c.1193T>C (p.Leu398Pro)
9g.135765682T>GCA375501413KCNT1c.1259T>G (p.Leu420Arg)
c.1100T>G (p.Leu367Arg)
c.1007T>G (p.Leu336Arg)
c.1016T>G (p.Leu339Arg)
c.1160T>G (p.Leu387Arg)
c.*869T>G (n.*869T>G)
c.1142T>G (p.Leu381Arg)
c.1202T>G (p.Leu401Arg)
n.1078T>G
c.1124T>G (p.Leu375Arg)
c.1394T>G (p.Leu465Arg)
c.1403T>G (p.Leu468Arg)
c.749T>G (p.Leu250Arg)
c.1193T>G (p.Leu398Arg)
9g.135765683G>ACA467698155KCNT1c.1260G>A (p.Leu420=)
c.1101G>A (p.Leu367=)
c.1008G>A (p.Leu336=)
c.1017G>A (p.Leu339=)
c.1161G>A (p.Leu387=)
c.*870G>A (n.*870G>A)
c.1143G>A (p.Leu381=)
c.1203G>A (p.Leu401=)
n.1079G>A
c.1125G>A (p.Leu375=)
c.1395G>A (p.Leu465=)
c.1404G>A (p.Leu468=)
c.750G>A (p.Leu250=)
c.1194G>A (p.Leu398=)
 dbSNP gnomAD v2 gnomAD v4
9g.135765683G>CCA467698156KCNT1c.1260G>C (p.Leu420=)
c.1101G>C (p.Leu367=)
c.1008G>C (p.Leu336=)
c.1017G>C (p.Leu339=)
c.1161G>C (p.Leu387=)
c.*870G>C (n.*870G>C)
c.1143G>C (p.Leu381=)
c.1203G>C (p.Leu401=)
n.1079G>C
c.1125G>C (p.Leu375=)
c.1395G>C (p.Leu465=)
c.1404G>C (p.Leu468=)
c.750G>C (p.Leu250=)
c.1194G>C (p.Leu398=)
9g.135765683G=CA1883866684KCNT1c.1260G= (p.Leu420=)
c.1101G= (p.Leu367=)
c.1008G= (p.Leu336=)
c.1017G= (p.Leu339=)
c.1161G= (p.Leu387=)
c.*870G= (n.*870G=)
c.1143G= (p.Leu381=)
c.1203G= (p.Leu401=)
n.1079G=
c.1125G= (p.Leu375=)
c.1395G= (p.Leu465=)
c.1404G= (p.Leu468=)
c.750G= (p.Leu250=)
c.1194G= (p.Leu398=)
9g.135765683G>TCA5326838KCNT1c.1260G>T (p.Leu420=)
c.1101G>T (p.Leu367=)
c.1008G>T (p.Leu336=)
c.1017G>T (p.Leu339=)
c.1161G>T (p.Leu387=)
c.*870G>T (n.*870G>T)
c.1143G>T (p.Leu381=)
c.1203G>T (p.Leu401=)
n.1079G>T
c.1125G>T (p.Leu375=)
c.1395G>T (p.Leu465=)
c.1404G>T (p.Leu468=)
c.750G>T (p.Leu250=)
c.1194G>T (p.Leu398=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135765684C>ACA375501416KCNT1c.1261C>A (p.Gln421Lys)
c.1102C>A (p.Gln368Lys)
c.1009C>A (p.Gln337Lys)
c.1018C>A (p.Gln340Lys)
c.1162C>A (p.Gln388Lys)
c.*871C>A (n.*871C>A)
c.1144C>A (p.Gln382Lys)
c.1204C>A (p.Gln402Lys)
n.1080C>A
c.1126C>A (p.Gln376Lys)
c.1396C>A (p.Gln466Lys)
c.1405C>A (p.Gln469Lys)
c.751C>A (p.Gln251Lys)
c.1195C>A (p.Gln399Lys)
 gnomAD v4
9g.135765684C>GCA375501417KCNT1c.1261C>G (p.Gln421Glu)
c.1102C>G (p.Gln368Glu)
c.1009C>G (p.Gln337Glu)
c.1018C>G (p.Gln340Glu)
c.1162C>G (p.Gln388Glu)
c.*871C>G (n.*871C>G)
c.1144C>G (p.Gln382Glu)
c.1204C>G (p.Gln402Glu)
n.1080C>G
c.1126C>G (p.Gln376Glu)
c.1396C>G (p.Gln466Glu)
c.1405C>G (p.Gln469Glu)
c.751C>G (p.Gln251Glu)
c.1195C>G (p.Gln399Glu)
9g.135765684C>TCA375501420KCNT1c.1261C>T (p.Gln421Ter)
c.1102C>T (p.Gln368Ter)
c.1009C>T (p.Gln337Ter)
c.1018C>T (p.Gln340Ter)
c.1162C>T (p.Gln388Ter)
c.*871C>T (n.*871C>T)
c.1144C>T (p.Gln382Ter)
c.1204C>T (p.Gln402Ter)
n.1080C>T
c.1126C>T (p.Gln376Ter)
c.1396C>T (p.Gln466Ter)
c.1405C>T (p.Gln469Ter)
c.751C>T (p.Gln251Ter)
c.1195C>T (p.Gln399Ter)
9g.135765685A>CCA375501422KCNT1c.1262A>C (p.Gln421Pro)
n.1A>C
c.1103A>C (p.Gln368Pro)
c.1010A>C (p.Gln337Pro)
c.1019A>C (p.Gln340Pro)
c.1163A>C (p.Gln388Pro)
c.*872A>C (n.*872A>C)
c.1145A>C (p.Gln382Pro)
c.1205A>C (p.Gln402Pro)
n.1081A>C
c.1127A>C (p.Gln376Pro)
c.1397A>C (p.Gln466Pro)
c.1406A>C (p.Gln469Pro)
c.752A>C (p.Gln251Pro)
c.1196A>C (p.Gln399Pro)
9g.135765685A>GCA375501424KCNT1c.1262A>G (p.Gln421Arg)
n.1A>G
c.1103A>G (p.Gln368Arg)
c.1010A>G (p.Gln337Arg)
c.1019A>G (p.Gln340Arg)
c.1163A>G (p.Gln388Arg)
c.*872A>G (n.*872A>G)
c.1145A>G (p.Gln382Arg)
c.1205A>G (p.Gln402Arg)
n.1081A>G
c.1127A>G (p.Gln376Arg)
c.1397A>G (p.Gln466Arg)
c.1406A>G (p.Gln469Arg)
c.752A>G (p.Gln251Arg)
c.1196A>G (p.Gln399Arg)
9g.135765685A>TCA375501425KCNT1c.1262A>T (p.Gln421Leu)
n.1A>T
c.1103A>T (p.Gln368Leu)
c.1010A>T (p.Gln337Leu)
c.1019A>T (p.Gln340Leu)
c.1163A>T (p.Gln388Leu)
c.*872A>T (n.*872A>T)
c.1145A>T (p.Gln382Leu)
c.1205A>T (p.Gln402Leu)
n.1081A>T
c.1127A>T (p.Gln376Leu)
c.1397A>T (p.Gln466Leu)
c.1406A>T (p.Gln469Leu)
c.752A>T (p.Gln251Leu)
c.1196A>T (p.Gln399Leu)
9g.135765686G>ACA467698157KCNT1c.1263G>A (p.Gln421=)
n.2G>A
c.1104G>A (p.Gln368=)
c.1011G>A (p.Gln337=)
c.1020G>A (p.Gln340=)
c.1164G>A (p.Gln388=)
c.*873G>A (n.*873G>A)
c.1146G>A (p.Gln382=)
c.1206G>A (p.Gln402=)
n.1082G>A
c.1128G>A (p.Gln376=)
c.1398G>A (p.Gln466=)
c.1407G>A (p.Gln469=)
c.753G>A (p.Gln251=)
c.1197G>A (p.Gln399=)
9g.135765686G>CCA375501427KCNT1c.1263G>C (p.Gln421His)
n.2G>C
c.1104G>C (p.Gln368His)
c.1011G>C (p.Gln337His)
c.1020G>C (p.Gln340His)
c.1164G>C (p.Gln388His)
c.*873G>C (n.*873G>C)
c.1146G>C (p.Gln382His)
c.1206G>C (p.Gln402His)
n.1082G>C
c.1128G>C (p.Gln376His)
c.1398G>C (p.Gln466His)
c.1407G>C (p.Gln469His)
c.753G>C (p.Gln251His)
c.1197G>C (p.Gln399His)
9g.135765686G>TCA375501426KCNT1c.1263G>T (p.Gln421His)
n.2G>T
c.1104G>T (p.Gln368His)
c.1011G>T (p.Gln337His)
c.1020G>T (p.Gln340His)
c.1164G>T (p.Gln388His)
c.*873G>T (n.*873G>T)
c.1146G>T (p.Gln382His)
c.1206G>T (p.Gln402His)
n.1082G>T
c.1128G>T (p.Gln376His)
c.1398G>T (p.Gln466His)
c.1407G>T (p.Gln469His)
c.753G>T (p.Gln251His)
c.1197G>T (p.Gln399His)
 gnomAD v4
9g.135765687A>CCA375501429KCNT1c.1264A>C (p.Ile422Leu)
n.3A>C
c.1105A>C (p.Ile369Leu)
c.1012A>C (p.Ile338Leu)
c.1021A>C (p.Ile341Leu)
c.1165A>C (p.Ile389Leu)
c.*874A>C (n.*874A>C)
c.1147A>C (p.Ile383Leu)
c.1207A>C (p.Ile403Leu)
n.1083A>C
c.1129A>C (p.Ile377Leu)
c.1399A>C (p.Ile467Leu)
c.1408A>C (p.Ile470Leu)
c.754A>C (p.Ile252Leu)
c.1198A>C (p.Ile400Leu)
9g.135765687A>GCA375501433KCNT1c.1264A>G (p.Ile422Val)
n.3A>G
c.1105A>G (p.Ile369Val)
c.1012A>G (p.Ile338Val)
c.1021A>G (p.Ile341Val)
c.1165A>G (p.Ile389Val)
c.*874A>G (n.*874A>G)
c.1147A>G (p.Ile383Val)
c.1207A>G (p.Ile403Val)
n.1083A>G
c.1129A>G (p.Ile377Val)
c.1399A>G (p.Ile467Val)
c.1408A>G (p.Ile470Val)
c.754A>G (p.Ile252Val)
c.1198A>G (p.Ile400Val)
9g.135765687A>TCA375501432KCNT1c.1264A>T (p.Ile422Phe)
n.3A>T
c.1105A>T (p.Ile369Phe)
c.1012A>T (p.Ile338Phe)
c.1021A>T (p.Ile341Phe)
c.1165A>T (p.Ile389Phe)
c.*874A>T (n.*874A>T)
c.1147A>T (p.Ile383Phe)
c.1207A>T (p.Ile403Phe)
n.1083A>T
c.1129A>T (p.Ile377Phe)
c.1399A>T (p.Ile467Phe)
c.1408A>T (p.Ile470Phe)
c.754A>T (p.Ile252Phe)
c.1198A>T (p.Ile400Phe)
9g.135765688T>ACA375501435KCNT1c.1265T>A (p.Ile422Asn)
n.4T>A
c.1106T>A (p.Ile369Asn)
c.1013T>A (p.Ile338Asn)
c.1022T>A (p.Ile341Asn)
c.1166T>A (p.Ile389Asn)
c.*875T>A (n.*875T>A)
c.1148T>A (p.Ile383Asn)
c.1208T>A (p.Ile403Asn)
n.1084T>A
c.1130T>A (p.Ile377Asn)
c.1400T>A (p.Ile467Asn)
c.1409T>A (p.Ile470Asn)
c.755T>A (p.Ile252Asn)
c.1199T>A (p.Ile400Asn)
9g.135765688T>CCA375501440KCNT1c.1265T>C (p.Ile422Thr)
n.4T>C
c.1106T>C (p.Ile369Thr)
c.1013T>C (p.Ile338Thr)
c.1022T>C (p.Ile341Thr)
c.1166T>C (p.Ile389Thr)
c.*875T>C (n.*875T>C)
c.1148T>C (p.Ile383Thr)
c.1208T>C (p.Ile403Thr)
n.1084T>C
c.1130T>C (p.Ile377Thr)
c.1400T>C (p.Ile467Thr)
c.1409T>C (p.Ile470Thr)
c.755T>C (p.Ile252Thr)
c.1199T>C (p.Ile400Thr)
9g.135765688T>GCA375501436KCNT1c.1265T>G (p.Ile422Ser)
n.4T>G
c.1106T>G (p.Ile369Ser)
c.1013T>G (p.Ile338Ser)
c.1022T>G (p.Ile341Ser)
c.1166T>G (p.Ile389Ser)
c.*875T>G (n.*875T>G)
c.1148T>G (p.Ile383Ser)
c.1208T>G (p.Ile403Ser)
n.1084T>G
c.1130T>G (p.Ile377Ser)
c.1400T>G (p.Ile467Ser)
c.1409T>G (p.Ile470Ser)
c.755T>G (p.Ile252Ser)
c.1199T>G (p.Ile400Ser)
9g.135765689C>ACA467698158KCNT1c.1266C>A (p.Ile422=)
n.5C>A
c.1107C>A (p.Ile369=)
c.1014C>A (p.Ile338=)
c.1023C>A (p.Ile341=)
c.1167C>A (p.Ile389=)
c.*876C>A (n.*876C>A)
c.1149C>A (p.Ile383=)
c.1209C>A (p.Ile403=)
n.1085C>A
c.1131C>A (p.Ile377=)
c.1401C>A (p.Ile467=)
c.1410C>A (p.Ile470=)
c.756C>A (p.Ile252=)
c.1200C>A (p.Ile400=)
 gnomAD v4
9g.135765689C>GCA375501443KCNT1c.1266C>G (p.Ile422Met)
n.5C>G
c.1107C>G (p.Ile369Met)
c.1014C>G (p.Ile338Met)
c.1023C>G (p.Ile341Met)
c.1167C>G (p.Ile389Met)
c.*876C>G (n.*876C>G)
c.1149C>G (p.Ile383Met)
c.1209C>G (p.Ile403Met)
n.1085C>G
c.1131C>G (p.Ile377Met)
c.1401C>G (p.Ile467Met)
c.1410C>G (p.Ile470Met)
c.756C>G (p.Ile252Met)
c.1200C>G (p.Ile400Met)
 gnomAD v4
9g.135765689C>TCA467698159KCNT1c.1266C>T (p.Ile422=)
n.5C>T
c.1107C>T (p.Ile369=)
c.1014C>T (p.Ile338=)
c.1023C>T (p.Ile341=)
c.1167C>T (p.Ile389=)
c.*876C>T (n.*876C>T)
c.1149C>T (p.Ile383=)
c.1209C>T (p.Ile403=)
n.1085C>T
c.1131C>T (p.Ile377=)
c.1401C>T (p.Ile467=)
c.1410C>T (p.Ile470=)
c.756C>T (p.Ile252=)
c.1200C>T (p.Ile400=)
 gnomAD v4 COSMIC COSMIC
9g.135765690C>ACA375501452KCNT1c.1267C>A (p.Pro423Thr)
n.6C>A
c.1108C>A (p.Pro370Thr)
c.1015C>A (p.Pro339Thr)
c.1024C>A (p.Pro342Thr)
c.1168C>A (p.Pro390Thr)
c.*877C>A (n.*877C>A)
c.1150C>A (p.Pro384Thr)
c.1210C>A (p.Pro404Thr)
n.1086C>A
c.1132C>A (p.Pro378Thr)
c.1402C>A (p.Pro468Thr)
c.1411C>A (p.Pro471Thr)
c.757C>A (p.Pro253Thr)
c.1201C>A (p.Pro401Thr)
9g.135765690C>GCA375501448KCNT1c.1267C>G (p.Pro423Ala)
n.6C>G
c.1108C>G (p.Pro370Ala)
c.1015C>G (p.Pro339Ala)
c.1024C>G (p.Pro342Ala)
c.1168C>G (p.Pro390Ala)
c.*877C>G (n.*877C>G)
c.1150C>G (p.Pro384Ala)
c.1210C>G (p.Pro404Ala)
n.1086C>G
c.1132C>G (p.Pro378Ala)
c.1402C>G (p.Pro468Ala)
c.1411C>G (p.Pro471Ala)
c.757C>G (p.Pro253Ala)
c.1201C>G (p.Pro401Ala)
9g.135765690C>TCA375501449KCNT1c.1267C>T (p.Pro423Ser)
n.6C>T
c.1108C>T (p.Pro370Ser)
c.1015C>T (p.Pro339Ser)
c.1024C>T (p.Pro342Ser)
c.1168C>T (p.Pro390Ser)
c.*877C>T (n.*877C>T)
c.1150C>T (p.Pro384Ser)
c.1210C>T (p.Pro404Ser)
n.1086C>T
c.1132C>T (p.Pro378Ser)
c.1402C>T (p.Pro468Ser)
c.1411C>T (p.Pro471Ser)
c.757C>T (p.Pro253Ser)
c.1201C>T (p.Pro401Ser)
 COSMIC COSMIC
9g.135765691C>ACA375501455KCNT1c.1268C>A (p.Pro423His)
n.7C>A
c.1109C>A (p.Pro370His)
c.1016C>A (p.Pro339His)
c.1025C>A (p.Pro342His)
c.1169C>A (p.Pro390His)
c.*878C>A (n.*878C>A)
c.1151C>A (p.Pro384His)
c.1211C>A (p.Pro404His)
n.1087C>A
c.1133C>A (p.Pro378His)
c.1403C>A (p.Pro468His)
c.1412C>A (p.Pro471His)
c.758C>A (p.Pro253His)
c.1202C>A (p.Pro401His)
9g.135765691C>GCA375501456KCNT1c.1268C>G (p.Pro423Arg)
n.7C>G
c.1109C>G (p.Pro370Arg)
c.1016C>G (p.Pro339Arg)
c.1025C>G (p.Pro342Arg)
c.1169C>G (p.Pro390Arg)
c.*878C>G (n.*878C>G)
c.1151C>G (p.Pro384Arg)
c.1211C>G (p.Pro404Arg)
n.1087C>G
c.1133C>G (p.Pro378Arg)
c.1403C>G (p.Pro468Arg)
c.1412C>G (p.Pro471Arg)
c.758C>G (p.Pro253Arg)
c.1202C>G (p.Pro401Arg)
9g.135765691C>TCA375501459KCNT1c.1268C>T (p.Pro423Leu)
n.7C>T
c.1109C>T (p.Pro370Leu)
c.1016C>T (p.Pro339Leu)
c.1025C>T (p.Pro342Leu)
c.1169C>T (p.Pro390Leu)
c.*878C>T (n.*878C>T)
c.1151C>T (p.Pro384Leu)
c.1211C>T (p.Pro404Leu)
n.1087C>T
c.1133C>T (p.Pro378Leu)
c.1403C>T (p.Pro468Leu)
c.1412C>T (p.Pro471Leu)
c.758C>T (p.Pro253Leu)
c.1202C>T (p.Pro401Leu)
9g.135765692T>ACA467698160KCNT1c.1269T>A (p.Pro423=)
n.8T>A
c.1110T>A (p.Pro370=)
c.1017T>A (p.Pro339=)
c.1026T>A (p.Pro342=)
c.1170T>A (p.Pro390=)
c.*879T>A (n.*879T>A)
c.1152T>A (p.Pro384=)
c.1212T>A (p.Pro404=)
n.1088T>A
c.1134T>A (p.Pro378=)
c.1404T>A (p.Pro468=)
c.1413T>A (p.Pro471=)
c.759T>A (p.Pro253=)
c.1203T>A (p.Pro401=)
9g.135765692T>CCA467698161KCNT1c.1269T>C (p.Pro423=)
n.8T>C
c.1110T>C (p.Pro370=)
c.1017T>C (p.Pro339=)
c.1026T>C (p.Pro342=)
c.1170T>C (p.Pro390=)
c.*879T>C (n.*879T>C)
c.1152T>C (p.Pro384=)
c.1212T>C (p.Pro404=)
n.1088T>C
c.1134T>C (p.Pro378=)
c.1404T>C (p.Pro468=)
c.1413T>C (p.Pro471=)
c.759T>C (p.Pro253=)
c.1203T>C (p.Pro401=)
9g.135765692T>GCA467698162KCNT1c.1269T>G (p.Pro423=)
n.8T>G
c.1110T>G (p.Pro370=)
c.1017T>G (p.Pro339=)
c.1026T>G (p.Pro342=)
c.1170T>G (p.Pro390=)
c.*879T>G (n.*879T>G)
c.1152T>G (p.Pro384=)
c.1212T>G (p.Pro404=)
n.1088T>G
c.1134T>G (p.Pro378=)
c.1404T>G (p.Pro468=)
c.1413T>G (p.Pro471=)
c.759T>G (p.Pro253=)
c.1203T>G (p.Pro401=)
9g.135765693C>ACA375501464KCNT1c.1270C>A (p.Leu424Met)
n.9C>A
c.1111C>A (p.Leu371Met)
c.1018C>A (p.Leu340Met)
c.1027C>A (p.Leu343Met)
c.1171C>A (p.Leu391Met)
c.*880C>A (n.*880C>A)
c.1153C>A (p.Leu385Met)
c.1213C>A (p.Leu405Met)
n.1089C>A
c.1135C>A (p.Leu379Met)
c.1405C>A (p.Leu469Met)
c.1414C>A (p.Leu472Met)
c.760C>A (p.Leu254Met)
c.1204C>A (p.Leu402Met)
9g.135765693C>GCA375501466KCNT1c.1270C>G (p.Leu424Val)
n.9C>G
c.1111C>G (p.Leu371Val)
c.1018C>G (p.Leu340Val)
c.1027C>G (p.Leu343Val)
c.1171C>G (p.Leu391Val)
c.*880C>G (n.*880C>G)
c.1153C>G (p.Leu385Val)
c.1213C>G (p.Leu405Val)
n.1089C>G
c.1135C>G (p.Leu379Val)
c.1405C>G (p.Leu469Val)
c.1414C>G (p.Leu472Val)
c.760C>G (p.Leu254Val)
c.1204C>G (p.Leu402Val)
9g.135765693C>TCA467698163KCNT1c.1270C>T (p.Leu424=)
n.9C>T
c.1111C>T (p.Leu371=)
c.1018C>T (p.Leu340=)
c.1027C>T (p.Leu343=)
c.1171C>T (p.Leu391=)
c.*880C>T (n.*880C>T)
c.1153C>T (p.Leu385=)
c.1213C>T (p.Leu405=)
n.1089C>T
c.1135C>T (p.Leu379=)
c.1405C>T (p.Leu469=)
c.1414C>T (p.Leu472=)
c.760C>T (p.Leu254=)
c.1204C>T (p.Leu402=)
9g.135765694T>ACA375501469KCNT1c.1271T>A (p.Leu424Gln)
n.10T>A
c.1112T>A (p.Leu371Gln)
c.1019T>A (p.Leu340Gln)
c.1028T>A (p.Leu343Gln)
c.1172T>A (p.Leu391Gln)
c.*881T>A (n.*881T>A)
c.1154T>A (p.Leu385Gln)
c.1214T>A (p.Leu405Gln)
n.1090T>A
c.1136T>A (p.Leu379Gln)
c.1406T>A (p.Leu469Gln)
c.1415T>A (p.Leu472Gln)
c.761T>A (p.Leu254Gln)
c.1205T>A (p.Leu402Gln)
 gnomAD v4
9g.135765694T>CCA375501472KCNT1c.1271T>C (p.Leu424Pro)
n.10T>C
c.1112T>C (p.Leu371Pro)
c.1019T>C (p.Leu340Pro)
c.1028T>C (p.Leu343Pro)
c.1172T>C (p.Leu391Pro)
c.*881T>C (n.*881T>C)
c.1154T>C (p.Leu385Pro)
c.1214T>C (p.Leu405Pro)
n.1090T>C
c.1136T>C (p.Leu379Pro)
c.1406T>C (p.Leu469Pro)
c.1415T>C (p.Leu472Pro)
c.761T>C (p.Leu254Pro)
c.1205T>C (p.Leu402Pro)
9g.135765694T>GCA375501475KCNT1c.1271T>G (p.Leu424Arg)
n.10T>G
c.1112T>G (p.Leu371Arg)
c.1019T>G (p.Leu340Arg)
c.1028T>G (p.Leu343Arg)
c.1172T>G (p.Leu391Arg)
c.*881T>G (n.*881T>G)
c.1154T>G (p.Leu385Arg)
c.1214T>G (p.Leu405Arg)
n.1090T>G
c.1136T>G (p.Leu379Arg)
c.1406T>G (p.Leu469Arg)
c.1415T>G (p.Leu472Arg)
c.761T>G (p.Leu254Arg)
c.1205T>G (p.Leu402Arg)
9g.135765695G>ACA467698164KCNT1c.1272G>A (p.Leu424=)
n.11G>A
c.1113G>A (p.Leu371=)
c.1020G>A (p.Leu340=)
c.1029G>A (p.Leu343=)
c.1173G>A (p.Leu391=)
c.*882G>A (n.*882G>A)
c.1155G>A (p.Leu385=)
c.1215G>A (p.Leu405=)
n.1091G>A
c.1137G>A (p.Leu379=)
c.1407G>A (p.Leu469=)
c.1416G>A (p.Leu472=)
c.762G>A (p.Leu254=)
c.1206G>A (p.Leu402=)
 gnomAD v4
9g.135765695G>CCA467698165KCNT1c.1272G>C (p.Leu424=)
n.11G>C
c.1113G>C (p.Leu371=)
c.1020G>C (p.Leu340=)
c.1029G>C (p.Leu343=)
c.1173G>C (p.Leu391=)
c.*882G>C (n.*882G>C)
c.1155G>C (p.Leu385=)
c.1215G>C (p.Leu405=)
n.1091G>C
c.1137G>C (p.Leu379=)
c.1407G>C (p.Leu469=)
c.1416G>C (p.Leu472=)
c.762G>C (p.Leu254=)
c.1206G>C (p.Leu402=)
9g.135765695G=CA1883866685KCNT1c.1272G= (p.Leu424=)
n.11G=
c.1113G= (p.Leu371=)
c.1020G= (p.Leu340=)
c.1029G= (p.Leu343=)
c.1173G= (p.Leu391=)
c.*882G= (n.*882G=)
c.1155G= (p.Leu385=)
c.1215G= (p.Leu405=)
n.1091G=
c.1137G= (p.Leu379=)
c.1407G= (p.Leu469=)
c.1416G= (p.Leu472=)
c.762G= (p.Leu254=)
c.1206G= (p.Leu402=)
9g.135765695G>TCA467698166KCNT1c.1272G>T (p.Leu424=)
n.11G>T
c.1113G>T (p.Leu371=)
c.1020G>T (p.Leu340=)
c.1029G>T (p.Leu343=)
c.1173G>T (p.Leu391=)
c.*882G>T (n.*882G>T)
c.1155G>T (p.Leu385=)
c.1215G>T (p.Leu405=)
n.1091G>T
c.1137G>T (p.Leu379=)
c.1407G>T (p.Leu469=)
c.1416G>T (p.Leu472=)
c.762G>T (p.Leu254=)
c.1206G>T (p.Leu402=)
 dbSNP
9g.135765696T>ACA375501477KCNT1c.1273T>A (p.Trp425Arg)
n.12T>A
c.1114T>A (p.Trp372Arg)
c.1021T>A (p.Trp341Arg)
c.1030T>A (p.Trp344Arg)
c.1174T>A (p.Trp392Arg)
c.*883T>A (n.*883T>A)
c.1156T>A (p.Trp386Arg)
c.1216T>A (p.Trp406Arg)
n.1092T>A
c.1138T>A (p.Trp380Arg)
c.1408T>A (p.Trp470Arg)
c.1417T>A (p.Trp473Arg)
c.763T>A (p.Trp255Arg)
c.1207T>A (p.Trp403Arg)
9g.135765696T>CCA375501479KCNT1c.1273T>C (p.Trp425Arg)
n.12T>C
c.1114T>C (p.Trp372Arg)
c.1021T>C (p.Trp341Arg)
c.1030T>C (p.Trp344Arg)
c.1174T>C (p.Trp392Arg)
c.*883T>C (n.*883T>C)
c.1156T>C (p.Trp386Arg)
c.1216T>C (p.Trp406Arg)
n.1092T>C
c.1138T>C (p.Trp380Arg)
c.1408T>C (p.Trp470Arg)
c.1417T>C (p.Trp473Arg)
c.763T>C (p.Trp255Arg)
c.1207T>C (p.Trp403Arg)
9g.135765696T>GCA375501481KCNT1c.1273T>G (p.Trp425Gly)
n.12T>G
c.1114T>G (p.Trp372Gly)
c.1021T>G (p.Trp341Gly)
c.1030T>G (p.Trp344Gly)
c.1174T>G (p.Trp392Gly)
c.*883T>G (n.*883T>G)
c.1156T>G (p.Trp386Gly)
c.1216T>G (p.Trp406Gly)
n.1092T>G
c.1138T>G (p.Trp380Gly)
c.1408T>G (p.Trp470Gly)
c.1417T>G (p.Trp473Gly)
c.763T>G (p.Trp255Gly)
c.1207T>G (p.Trp403Gly)
9g.135765697G>ACA375501485KCNT1c.1274G>A (p.Trp425Ter)
n.1G>A
n.13G>A
c.1115G>A (p.Trp372Ter)
c.1022G>A (p.Trp341Ter)
c.1031G>A (p.Trp344Ter)
c.1175G>A (p.Trp392Ter)
c.*884G>A (n.*884G>A)
c.1157G>A (p.Trp386Ter)
c.1217G>A (p.Trp406Ter)
n.1093G>A
c.1139G>A (p.Trp380Ter)
c.1409G>A (p.Trp470Ter)
c.1418G>A (p.Trp473Ter)
c.764G>A (p.Trp255Ter)
c.1208G>A (p.Trp403Ter)
 gnomAD v4
9g.135765697G>CCA375501488KCNT1c.1274G>C (p.Trp425Ser)
n.1G>C
n.13G>C
c.1115G>C (p.Trp372Ser)
c.1022G>C (p.Trp341Ser)
c.1031G>C (p.Trp344Ser)
c.1175G>C (p.Trp392Ser)
c.*884G>C (n.*884G>C)
c.1157G>C (p.Trp386Ser)
c.1217G>C (p.Trp406Ser)
n.1093G>C
c.1139G>C (p.Trp380Ser)
c.1409G>C (p.Trp470Ser)
c.1418G>C (p.Trp473Ser)
c.764G>C (p.Trp255Ser)
c.1208G>C (p.Trp403Ser)
9g.135765697G>TCA375501487KCNT1c.1274G>T (p.Trp425Leu)
n.1G>T
n.13G>T
c.1115G>T (p.Trp372Leu)
c.1022G>T (p.Trp341Leu)
c.1031G>T (p.Trp344Leu)
c.1175G>T (p.Trp392Leu)
c.*884G>T (n.*884G>T)
c.1157G>T (p.Trp386Leu)
c.1217G>T (p.Trp406Leu)
n.1093G>T
c.1139G>T (p.Trp380Leu)
c.1409G>T (p.Trp470Leu)
c.1418G>T (p.Trp473Leu)
c.764G>T (p.Trp255Leu)
c.1208G>T (p.Trp403Leu)
9g.135765698G>ACA375501491KCNT1c.1275G>A (p.Trp425Ter)
n.2G>A
n.14G>A
c.1116G>A (p.Trp372Ter)
c.1023G>A (p.Trp341Ter)
c.1032G>A (p.Trp344Ter)
c.1176G>A (p.Trp392Ter)
c.*885G>A (n.*885G>A)
c.1158G>A (p.Trp386Ter)
c.1218G>A (p.Trp406Ter)
n.1094G>A
c.1140G>A (p.Trp380Ter)
c.1410G>A (p.Trp470Ter)
c.1419G>A (p.Trp473Ter)
c.765G>A (p.Trp255Ter)
c.1209G>A (p.Trp403Ter)
 ClinVar
9g.135765698G>CCA375501494KCNT1c.1275G>C (p.Trp425Cys)
n.2G>C
n.14G>C
c.1116G>C (p.Trp372Cys)
c.1023G>C (p.Trp341Cys)
c.1032G>C (p.Trp344Cys)
c.1176G>C (p.Trp392Cys)
c.*885G>C (n.*885G>C)
c.1158G>C (p.Trp386Cys)
c.1218G>C (p.Trp406Cys)
n.1094G>C
c.1140G>C (p.Trp380Cys)
c.1410G>C (p.Trp470Cys)
c.1419G>C (p.Trp473Cys)
c.765G>C (p.Trp255Cys)
c.1209G>C (p.Trp403Cys)
9g.135765698G>TCA375501498KCNT1c.1275G>T (p.Trp425Cys)
n.2G>T
n.14G>T
c.1116G>T (p.Trp372Cys)
c.1023G>T (p.Trp341Cys)
c.1032G>T (p.Trp344Cys)
c.1176G>T (p.Trp392Cys)
c.*885G>T (n.*885G>T)
c.1158G>T (p.Trp386Cys)
c.1218G>T (p.Trp406Cys)
n.1094G>T
c.1140G>T (p.Trp380Cys)
c.1410G>T (p.Trp470Cys)
c.1419G>T (p.Trp473Cys)
c.765G>T (p.Trp255Cys)
c.1209G>T (p.Trp403Cys)
9g.135765699T>ACA375501501KCNT1c.1276T>A (p.Ser426Thr)
n.3T>A
n.15T>A
c.1117T>A (p.Ser373Thr)
c.1024T>A (p.Ser342Thr)
c.1033T>A (p.Ser345Thr)
c.1177T>A (p.Ser393Thr)
c.*886T>A (n.*886T>A)
c.1159T>A (p.Ser387Thr)
c.1219T>A (p.Ser407Thr)
n.1095T>A
c.1141T>A (p.Ser381Thr)
c.1411T>A (p.Ser471Thr)
c.1420T>A (p.Ser474Thr)
c.766T>A (p.Ser256Thr)
c.1210T>A (p.Ser404Thr)
9g.135765699T>CCA375501503KCNT1c.1276T>C (p.Ser426Pro)
n.3T>C
n.15T>C
c.1117T>C (p.Ser373Pro)
c.1024T>C (p.Ser342Pro)
c.1033T>C (p.Ser345Pro)
c.1177T>C (p.Ser393Pro)
c.*886T>C (n.*886T>C)
c.1159T>C (p.Ser387Pro)
c.1219T>C (p.Ser407Pro)
n.1095T>C
c.1141T>C (p.Ser381Pro)
c.1411T>C (p.Ser471Pro)
c.1420T>C (p.Ser474Pro)
c.766T>C (p.Ser256Pro)
c.1210T>C (p.Ser404Pro)
9g.135765699T>GCA375501505KCNT1c.1276T>G (p.Ser426Ala)
n.3T>G
n.15T>G
c.1117T>G (p.Ser373Ala)
c.1024T>G (p.Ser342Ala)
c.1033T>G (p.Ser345Ala)
c.1177T>G (p.Ser393Ala)
c.*886T>G (n.*886T>G)
c.1159T>G (p.Ser387Ala)
c.1219T>G (p.Ser407Ala)
n.1095T>G
c.1141T>G (p.Ser381Ala)
c.1411T>G (p.Ser471Ala)
c.1420T>G (p.Ser474Ala)
c.766T>G (p.Ser256Ala)
c.1210T>G (p.Ser404Ala)
9g.135765700C>ACA375501509KCNT1c.1277C>A (p.Ser426Tyr)
n.4C>A
n.16C>A
c.1118C>A (p.Ser373Tyr)
c.1025C>A (p.Ser342Tyr)
c.1034C>A (p.Ser345Tyr)
c.1178C>A (p.Ser393Tyr)
c.*887C>A (n.*887C>A)
c.1160C>A (p.Ser387Tyr)
c.1220C>A (p.Ser407Tyr)
n.1096C>A
c.1142C>A (p.Ser381Tyr)
c.1412C>A (p.Ser471Tyr)
c.1421C>A (p.Ser474Tyr)
c.767C>A (p.Ser256Tyr)
c.1211C>A (p.Ser404Tyr)
9g.135765700C=CA1883866686KCNT1c.1277C= (p.Ser426=)
n.4C=
n.16C=
c.1118C= (p.Ser373=)
c.1025C= (p.Ser342=)
c.1034C= (p.Ser345=)
c.1178C= (p.Ser393=)
c.*887C= (n.*887C=)
c.1160C= (p.Ser387=)
c.1220C= (p.Ser407=)
n.1096C=
c.1142C= (p.Ser381=)
c.1412C= (p.Ser471=)
c.1421C= (p.Ser474=)
c.767C= (p.Ser256=)
c.1211C= (p.Ser404=)
9g.135765700C>GCA375501511KCNT1c.1277C>G (p.Ser426Cys)
n.4C>G
n.16C>G
c.1118C>G (p.Ser373Cys)
c.1025C>G (p.Ser342Cys)
c.1034C>G (p.Ser345Cys)
c.1178C>G (p.Ser393Cys)
c.*887C>G (n.*887C>G)
c.1160C>G (p.Ser387Cys)
c.1220C>G (p.Ser407Cys)
n.1096C>G
c.1142C>G (p.Ser381Cys)
c.1412C>G (p.Ser471Cys)
c.1421C>G (p.Ser474Cys)
c.767C>G (p.Ser256Cys)
c.1211C>G (p.Ser404Cys)
 dbSNP gnomAD v4
9g.135765700C>TCA375501513KCNT1c.1277C>T (p.Ser426Phe)
n.4C>T
n.16C>T
c.1118C>T (p.Ser373Phe)
c.1025C>T (p.Ser342Phe)
c.1034C>T (p.Ser345Phe)
c.1178C>T (p.Ser393Phe)
c.*887C>T (n.*887C>T)
c.1160C>T (p.Ser387Phe)
c.1220C>T (p.Ser407Phe)
n.1096C>T
c.1142C>T (p.Ser381Phe)
c.1412C>T (p.Ser471Phe)
c.1421C>T (p.Ser474Phe)
c.767C>T (p.Ser256Phe)
c.1211C>T (p.Ser404Phe)
9g.135765701C>ACA467698167KCNT1c.1278C>A (p.Ser426=)
n.5C>A
n.17C>A
c.1119C>A (p.Ser373=)
c.1026C>A (p.Ser342=)
c.1035C>A (p.Ser345=)
c.1179C>A (p.Ser393=)
c.*888C>A (n.*888C>A)
c.1161C>A (p.Ser387=)
c.1221C>A (p.Ser407=)
n.1097C>A
c.1143C>A (p.Ser381=)
c.1413C>A (p.Ser471=)
c.1422C>A (p.Ser474=)
c.768C>A (p.Ser256=)
c.1212C>A (p.Ser404=)
9g.135765701C>GCA467698168KCNT1c.1278C>G (p.Ser426=)
n.5C>G
n.17C>G
c.1119C>G (p.Ser373=)
c.1026C>G (p.Ser342=)
c.1035C>G (p.Ser345=)
c.1179C>G (p.Ser393=)
c.*888C>G (n.*888C>G)
c.1161C>G (p.Ser387=)
c.1221C>G (p.Ser407=)
n.1097C>G
c.1143C>G (p.Ser381=)
c.1413C>G (p.Ser471=)
c.1422C>G (p.Ser474=)
c.768C>G (p.Ser256=)
c.1212C>G (p.Ser404=)
9g.135765701C>TCA467698169KCNT1c.1278C>T (p.Ser426=)
n.5C>T
n.17C>T
c.1119C>T (p.Ser373=)
c.1026C>T (p.Ser342=)
c.1035C>T (p.Ser345=)
c.1179C>T (p.Ser393=)
c.*888C>T (n.*888C>T)
c.1161C>T (p.Ser387=)
c.1221C>T (p.Ser407=)
n.1097C>T
c.1143C>T (p.Ser381=)
c.1413C>T (p.Ser471=)
c.1422C>T (p.Ser474=)
c.768C>T (p.Ser256=)
c.1212C>T (p.Ser404=)
 gnomAD v4
9g.135765702C>ACA375501520KCNT1c.1279C>A (p.Gln427Lys)
n.6C>A
n.18C>A
c.1120C>A (p.Gln374Lys)
c.1027C>A (p.Gln343Lys)
c.1036C>A (p.Gln346Lys)
c.1180C>A (p.Gln394Lys)
c.*889C>A (n.*889C>A)
c.1162C>A (p.Gln388Lys)
c.1222C>A (p.Gln408Lys)
n.1098C>A
c.1144C>A (p.Gln382Lys)
c.1414C>A (p.Gln472Lys)
c.1423C>A (p.Gln475Lys)
c.769C>A (p.Gln257Lys)
c.1213C>A (p.Gln405Lys)
9g.135765702C>GCA375501517KCNT1c.1279C>G (p.Gln427Glu)
n.6C>G
n.18C>G
c.1120C>G (p.Gln374Glu)
c.1027C>G (p.Gln343Glu)
c.1036C>G (p.Gln346Glu)
c.1180C>G (p.Gln394Glu)
c.*889C>G (n.*889C>G)
c.1162C>G (p.Gln388Glu)
c.1222C>G (p.Gln408Glu)
n.1098C>G
c.1144C>G (p.Gln382Glu)
c.1414C>G (p.Gln472Glu)
c.1423C>G (p.Gln475Glu)
c.769C>G (p.Gln257Glu)
c.1213C>G (p.Gln405Glu)
9g.135765702C>TCA375501516KCNT1c.1279C>T (p.Gln427Ter)
n.6C>T
n.18C>T
c.1120C>T (p.Gln374Ter)
c.1027C>T (p.Gln343Ter)
c.1036C>T (p.Gln346Ter)
c.1180C>T (p.Gln394Ter)
c.*889C>T (n.*889C>T)
c.1162C>T (p.Gln388Ter)
c.1222C>T (p.Gln408Ter)
n.1098C>T
c.1144C>T (p.Gln382Ter)
c.1414C>T (p.Gln472Ter)
c.1423C>T (p.Gln475Ter)
c.769C>T (p.Gln257Ter)
c.1213C>T (p.Gln405Ter)
9g.135765703A>CCA375501522KCNT1c.1280A>C (p.Gln427Pro)
n.7A>C
n.19A>C
c.1121A>C (p.Gln374Pro)
c.1028A>C (p.Gln343Pro)
c.1037A>C (p.Gln346Pro)
c.1181A>C (p.Gln394Pro)
c.*890A>C (n.*890A>C)
c.1163A>C (p.Gln388Pro)
c.1223A>C (p.Gln408Pro)
n.1099A>C
c.1145A>C (p.Gln382Pro)
c.1415A>C (p.Gln472Pro)
c.1424A>C (p.Gln475Pro)
c.770A>C (p.Gln257Pro)
c.1214A>C (p.Gln405Pro)
9g.135765703A>GCA375501525KCNT1c.1280A>G (p.Gln427Arg)
n.7A>G
n.19A>G
c.1121A>G (p.Gln374Arg)
c.1028A>G (p.Gln343Arg)
c.1037A>G (p.Gln346Arg)
c.1181A>G (p.Gln394Arg)
c.*890A>G (n.*890A>G)
c.1163A>G (p.Gln388Arg)
c.1223A>G (p.Gln408Arg)
n.1099A>G
c.1145A>G (p.Gln382Arg)
c.1415A>G (p.Gln472Arg)
c.1424A>G (p.Gln475Arg)
c.770A>G (p.Gln257Arg)
c.1214A>G (p.Gln405Arg)
 gnomAD v4 COSMIC COSMIC
9g.135765703A>TCA375501526KCNT1c.1280A>T (p.Gln427Leu)
n.7A>T
n.19A>T
c.1121A>T (p.Gln374Leu)
c.1028A>T (p.Gln343Leu)
c.1037A>T (p.Gln346Leu)
c.1181A>T (p.Gln394Leu)
c.*890A>T (n.*890A>T)
c.1163A>T (p.Gln388Leu)
c.1223A>T (p.Gln408Leu)
n.1099A>T
c.1145A>T (p.Gln382Leu)
c.1415A>T (p.Gln472Leu)
c.1424A>T (p.Gln475Leu)
c.770A>T (p.Gln257Leu)
c.1214A>T (p.Gln405Leu)
9g.135765704G>ACA467698170KCNT1c.1281G>A (p.Gln427=)
n.8G>A
n.20G>A
c.1122G>A (p.Gln374=)
c.1029G>A (p.Gln343=)
c.1038G>A (p.Gln346=)
c.1182G>A (p.Gln394=)
c.*891G>A (n.*891G>A)
c.1164G>A (p.Gln388=)
c.1224G>A (p.Gln408=)
n.1100G>A
c.1146G>A (p.Gln382=)
c.1416G>A (p.Gln472=)
c.1425G>A (p.Gln475=)
c.771G>A (p.Gln257=)
c.1215G>A (p.Gln405=)
 gnomAD v4
9g.135765704G>CCA375501529KCNT1c.1281G>C (p.Gln427His)
n.8G>C
n.20G>C
c.1122G>C (p.Gln374His)
c.1029G>C (p.Gln343His)
c.1038G>C (p.Gln346His)
c.1182G>C (p.Gln394His)
c.*891G>C (n.*891G>C)
c.1164G>C (p.Gln388His)
c.1224G>C (p.Gln408His)
n.1100G>C
c.1146G>C (p.Gln382His)
c.1416G>C (p.Gln472His)
c.1425G>C (p.Gln475His)
c.771G>C (p.Gln257His)
c.1215G>C (p.Gln405His)
9g.135765704G>TCA375501532KCNT1c.1281G>T (p.Gln427His)
n.8G>T
n.20G>T
c.1122G>T (p.Gln374His)
c.1029G>T (p.Gln343His)
c.1038G>T (p.Gln346His)
c.1182G>T (p.Gln394His)
c.*891G>T (n.*891G>T)
c.1164G>T (p.Gln388His)
c.1224G>T (p.Gln408His)
n.1100G>T
c.1146G>T (p.Gln382His)
c.1416G>T (p.Gln472His)
c.1425G>T (p.Gln475His)
c.771G>T (p.Gln257His)
c.1215G>T (p.Gln405His)
 ClinVar
9g.135765705C>ACA467698171KCNT1c.1282C>A (p.Arg428=)
n.9C>A
n.21C>A
c.1123C>A (p.Arg375=)
c.1030C>A (p.Arg344=)
c.1039C>A (p.Arg347=)
c.1183C>A (p.Arg395=)
c.*892C>A (n.*892C>A)
c.1165C>A (p.Arg389=)
c.1225C>A (p.Arg409=)
n.1101C>A
c.1147C>A (p.Arg383=)
c.1417C>A (p.Arg473=)
c.1426C>A (p.Arg476=)
c.772C>A (p.Arg258=)
c.1216C>A (p.Arg406=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135765705C=CA1883866687KCNT1c.1282C= (p.Arg428=)
n.9C=
n.21C=
c.1123C= (p.Arg375=)
c.1030C= (p.Arg344=)
c.1039C= (p.Arg347=)
c.1183C= (p.Arg395=)
c.*892C= (n.*892C=)
c.1165C= (p.Arg389=)
c.1225C= (p.Arg409=)
n.1101C=
c.1147C= (p.Arg383=)
c.1417C= (p.Arg473=)
c.1426C= (p.Arg476=)
c.772C= (p.Arg258=)
c.1216C= (p.Arg406=)
9g.135765705C>GCA375501535KCNT1c.1282C>G (p.Arg428Gly)
n.9C>G
n.21C>G
c.1123C>G (p.Arg375Gly)
c.1030C>G (p.Arg344Gly)
c.1039C>G (p.Arg347Gly)
c.1183C>G (p.Arg395Gly)
c.*892C>G (n.*892C>G)
c.1165C>G (p.Arg389Gly)
c.1225C>G (p.Arg409Gly)
n.1101C>G
c.1147C>G (p.Arg383Gly)
c.1417C>G (p.Arg473Gly)
c.1426C>G (p.Arg476Gly)
c.772C>G (p.Arg258Gly)
c.1216C>G (p.Arg406Gly)
9g.135765705C>TCA5326839KCNT1c.1282C>T (p.Arg428Trp)
n.9C>T
n.21C>T
c.1123C>T (p.Arg375Trp)
c.1030C>T (p.Arg344Trp)
c.1039C>T (p.Arg347Trp)
c.1183C>T (p.Arg395Trp)
c.*892C>T (n.*892C>T)
c.1165C>T (p.Arg389Trp)
c.1225C>T (p.Arg409Trp)
n.1101C>T
c.1147C>T (p.Arg383Trp)
c.1417C>T (p.Arg473Trp)
c.1426C>T (p.Arg476Trp)
c.772C>T (p.Arg258Trp)
c.1216C>T (p.Arg406Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.135765706G>ACA130389KCNT1c.1283G>A (p.Arg428Gln)
n.10G>A
n.22G>A
c.1124G>A (p.Arg375Gln)
c.1031G>A (p.Arg344Gln)
c.1040G>A (p.Arg347Gln)
c.1184G>A (p.Arg395Gln)
c.*893G>A (n.*893G>A)
c.1166G>A (p.Arg389Gln)
c.1226G>A (p.Arg409Gln)
n.1102G>A
c.1148G>A (p.Arg383Gln)
c.1418G>A (p.Arg473Gln)
c.1427G>A (p.Arg476Gln)
c.773G>A (p.Arg258Gln)
c.1217G>A (p.Arg406Gln)
 ClinVar dbSNP
9g.135765706G>CCA375501540KCNT1c.1283G>C (p.Arg428Pro)
n.10G>C
n.22G>C
c.1124G>C (p.Arg375Pro)
c.1031G>C (p.Arg344Pro)
c.1040G>C (p.Arg347Pro)
c.1184G>C (p.Arg395Pro)
c.*893G>C (n.*893G>C)
c.1166G>C (p.Arg389Pro)
c.1226G>C (p.Arg409Pro)
n.1102G>C
c.1148G>C (p.Arg383Pro)
c.1418G>C (p.Arg473Pro)
c.1427G>C (p.Arg476Pro)
c.773G>C (p.Arg258Pro)
c.1217G>C (p.Arg406Pro)
9g.135765706G=CA1883866688KCNT1c.1283G= (p.Arg428=)
n.10G=
n.22G=
c.1124G= (p.Arg375=)
c.1031G= (p.Arg344=)
c.1040G= (p.Arg347=)
c.1184G= (p.Arg395=)
c.*893G= (n.*893G=)
c.1166G= (p.Arg389=)
c.1226G= (p.Arg409=)
n.1102G=
c.1148G= (p.Arg383=)
c.1418G= (p.Arg473=)
c.1427G= (p.Arg476=)
c.773G= (p.Arg258=)
c.1217G= (p.Arg406=)
9g.135765706G>TCA375501543KCNT1c.1283G>T (p.Arg428Leu)
n.10G>T
n.22G>T
c.1124G>T (p.Arg375Leu)
c.1031G>T (p.Arg344Leu)
c.1040G>T (p.Arg347Leu)
c.1184G>T (p.Arg395Leu)
c.*893G>T (n.*893G>T)
c.1166G>T (p.Arg389Leu)
c.1226G>T (p.Arg409Leu)
n.1102G>T
c.1148G>T (p.Arg383Leu)
c.1418G>T (p.Arg473Leu)
c.1427G>T (p.Arg476Leu)
c.773G>T (p.Arg258Leu)
c.1217G>T (p.Arg406Leu)
 gnomAD v4
9g.135765707G>ACA16612639KCNT1c.1284G>A (p.Arg428=)
n.11G>A
n.23G>A
c.1125G>A (p.Arg375=)
c.1032G>A (p.Arg344=)
c.1041G>A (p.Arg347=)
c.1185G>A (p.Arg395=)
c.*894G>A (n.*894G>A)
c.1167G>A (p.Arg389=)
c.1227G>A (p.Arg409=)
n.1103G>A
c.1149G>A (p.Arg383=)
c.1419G>A (p.Arg473=)
c.1428G>A (p.Arg476=)
c.774G>A (p.Arg258=)
c.1218G>A (p.Arg406=)
 ClinVar dbSNP
9g.135765707G>CCA467698172KCNT1c.1284G>C (p.Arg428=)
n.11G>C
n.23G>C
c.1125G>C (p.Arg375=)
c.1032G>C (p.Arg344=)
c.1041G>C (p.Arg347=)
c.1185G>C (p.Arg395=)
c.*894G>C (n.*894G>C)
c.1167G>C (p.Arg389=)
c.1227G>C (p.Arg409=)
n.1103G>C
c.1149G>C (p.Arg383=)
c.1419G>C (p.Arg473=)
c.1428G>C (p.Arg476=)
c.774G>C (p.Arg258=)
c.1218G>C (p.Arg406=)
9g.135765707G=CA1883866689KCNT1c.1284G= (p.Arg428=)
n.11G=
n.23G=
c.1125G= (p.Arg375=)
c.1032G= (p.Arg344=)
c.1041G= (p.Arg347=)
c.1185G= (p.Arg395=)
c.*894G= (n.*894G=)
c.1167G= (p.Arg389=)
c.1227G= (p.Arg409=)
n.1103G=
c.1149G= (p.Arg383=)
c.1419G= (p.Arg473=)
c.1428G= (p.Arg476=)
c.774G= (p.Arg258=)
c.1218G= (p.Arg406=)
9g.135765707G>TCA467698173KCNT1c.1284G>T (p.Arg428=)
n.11G>T
n.23G>T
c.1125G>T (p.Arg375=)
c.1032G>T (p.Arg344=)
c.1041G>T (p.Arg347=)
c.1185G>T (p.Arg395=)
c.*894G>T (n.*894G>T)
c.1167G>T (p.Arg389=)
c.1227G>T (p.Arg409=)
n.1103G>T
c.1149G>T (p.Arg383=)
c.1419G>T (p.Arg473=)
c.1428G>T (p.Arg476=)
c.774G>T (p.Arg258=)
c.1218G>T (p.Arg406=)
 gnomAD v4
9g.135765708G>ACA375501547KCNT1c.1285G>A (p.Val429Ile)
n.12G>A
n.24G>A
c.1126G>A (p.Val376Ile)
c.1033G>A (p.Val345Ile)
c.1042G>A (p.Val348Ile)
c.1186G>A (p.Val396Ile)
c.*895G>A (n.*895G>A)
c.1168G>A (p.Val390Ile)
c.1228G>A (p.Val410Ile)
n.1104G>A
c.1150G>A (p.Val384Ile)
c.1420G>A (p.Val474Ile)
c.1429G>A (p.Val477Ile)
c.775G>A (p.Val259Ile)
c.1219G>A (p.Val407Ile)
9g.135765708G>CCA375501549KCNT1c.1285G>C (p.Val429Leu)
n.12G>C
n.24G>C
c.1126G>C (p.Val376Leu)
c.1033G>C (p.Val345Leu)
c.1042G>C (p.Val348Leu)
c.1186G>C (p.Val396Leu)
c.*895G>C (n.*895G>C)
c.1168G>C (p.Val390Leu)
c.1228G>C (p.Val410Leu)
n.1104G>C
c.1150G>C (p.Val384Leu)
c.1420G>C (p.Val474Leu)
c.1429G>C (p.Val477Leu)
c.775G>C (p.Val259Leu)
c.1219G>C (p.Val407Leu)
9g.135765708G>TCA375501551KCNT1c.1285G>T (p.Val429Phe)
n.12G>T
n.24G>T
c.1126G>T (p.Val376Phe)
c.1033G>T (p.Val345Phe)
c.1042G>T (p.Val348Phe)
c.1186G>T (p.Val396Phe)
c.*895G>T (n.*895G>T)
c.1168G>T (p.Val390Phe)
c.1228G>T (p.Val410Phe)
n.1104G>T
c.1150G>T (p.Val384Phe)
c.1420G>T (p.Val474Phe)
c.1429G>T (p.Val477Phe)
c.775G>T (p.Val259Phe)
c.1219G>T (p.Val407Phe)
 gnomAD v4
9g.135765709T>ACA375501555KCNT1c.1286T>A (p.Val429Asp)
n.13T>A
n.25T>A
c.1127T>A (p.Val376Asp)
c.1034T>A (p.Val345Asp)
c.1043T>A (p.Val348Asp)
c.1187T>A (p.Val396Asp)
c.*896T>A (n.*896T>A)
c.1169T>A (p.Val390Asp)
c.1229T>A (p.Val410Asp)
n.1105T>A
c.1151T>A (p.Val384Asp)
c.1421T>A (p.Val474Asp)
c.1430T>A (p.Val477Asp)
c.776T>A (p.Val259Asp)
c.1220T>A (p.Val407Asp)
9g.135765709T>CCA375501560KCNT1c.1286T>C (p.Val429Ala)
n.13T>C
n.25T>C
c.1127T>C (p.Val376Ala)
c.1034T>C (p.Val345Ala)
c.1043T>C (p.Val348Ala)
c.1187T>C (p.Val396Ala)
c.*896T>C (n.*896T>C)
c.1169T>C (p.Val390Ala)
c.1229T>C (p.Val410Ala)
n.1105T>C
c.1151T>C (p.Val384Ala)
c.1421T>C (p.Val474Ala)
c.1430T>C (p.Val477Ala)
c.776T>C (p.Val259Ala)
c.1220T>C (p.Val407Ala)
 gnomAD v4
9g.135765709T>GCA375501557KCNT1c.1286T>G (p.Val429Gly)
n.13T>G
n.25T>G
c.1127T>G (p.Val376Gly)
c.1034T>G (p.Val345Gly)
c.1043T>G (p.Val348Gly)
c.1187T>G (p.Val396Gly)
c.*896T>G (n.*896T>G)
c.1169T>G (p.Val390Gly)
c.1229T>G (p.Val410Gly)
n.1105T>G
c.1151T>G (p.Val384Gly)
c.1421T>G (p.Val474Gly)
c.1430T>G (p.Val477Gly)
c.776T>G (p.Val259Gly)
c.1220T>G (p.Val407Gly)
9g.135765710C>ACA467698174KCNT1c.1287C>A (p.Val429=)
n.14C>A
n.26C>A
c.1128C>A (p.Val376=)
c.1035C>A (p.Val345=)
c.1044C>A (p.Val348=)
c.1188C>A (p.Val396=)
c.*897C>A (n.*897C>A)
c.1170C>A (p.Val390=)
c.1230C>A (p.Val410=)
n.1106C>A
c.1152C>A (p.Val384=)
c.1422C>A (p.Val474=)
c.1431C>A (p.Val477=)
c.777C>A (p.Val259=)
c.1221C>A (p.Val407=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135765710C=CA1883866690KCNT1c.1287C= (p.Val429=)
n.14C=
n.26C=
c.1128C= (p.Val376=)
c.1035C= (p.Val345=)
c.1044C= (p.Val348=)
c.1188C= (p.Val396=)
c.*897C= (n.*897C=)
c.1170C= (p.Val390=)
c.1230C= (p.Val410=)
n.1106C=
c.1152C= (p.Val384=)
c.1422C= (p.Val474=)
c.1431C= (p.Val477=)
c.777C= (p.Val259=)
c.1221C= (p.Val407=)
9g.135765710C>GCA467698175KCNT1c.1287C>G (p.Val429=)
n.14C>G
n.26C>G
c.1128C>G (p.Val376=)
c.1035C>G (p.Val345=)
c.1044C>G (p.Val348=)
c.1188C>G (p.Val396=)
c.*897C>G (n.*897C>G)
c.1170C>G (p.Val390=)
c.1230C>G (p.Val410=)
n.1106C>G
c.1152C>G (p.Val384=)
c.1422C>G (p.Val474=)
c.1431C>G (p.Val477=)
c.777C>G (p.Val259=)
c.1221C>G (p.Val407=)
9g.135765710C>TCA5326840KCNT1c.1287C>T (p.Val429=)
n.14C>T
n.26C>T
c.1128C>T (p.Val376=)
c.1035C>T (p.Val345=)
c.1044C>T (p.Val348=)
c.1188C>T (p.Val396=)
c.*897C>T (n.*897C>T)
c.1170C>T (p.Val390=)
c.1230C>T (p.Val410=)
n.1106C>T
c.1152C>T (p.Val384=)
c.1422C>T (p.Val474=)
c.1431C>T (p.Val477=)
c.777C>T (p.Val259=)
c.1221C>T (p.Val407=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135765711A>CCA375501565KCNT1c.1288A>C (p.Ile430Leu)
n.15A>C
n.27A>C
c.1129A>C (p.Ile377Leu)
c.1036A>C (p.Ile346Leu)
c.1045A>C (p.Ile349Leu)
c.1189A>C (p.Ile397Leu)
c.*898A>C (n.*898A>C)
c.1171A>C (p.Ile391Leu)
c.1231A>C (p.Ile411Leu)
n.1107A>C
c.1153A>C (p.Ile385Leu)
c.1423A>C (p.Ile475Leu)
c.1432A>C (p.Ile478Leu)
c.778A>C (p.Ile260Leu)
c.1222A>C (p.Ile408Leu)
9g.135765711A>GCA375501567KCNT1c.1288A>G (p.Ile430Val)
n.15A>G
n.27A>G
c.1129A>G (p.Ile377Val)
c.1036A>G (p.Ile346Val)
c.1045A>G (p.Ile349Val)
c.1189A>G (p.Ile397Val)
c.*898A>G (n.*898A>G)
c.1171A>G (p.Ile391Val)
c.1231A>G (p.Ile411Val)
n.1107A>G
c.1153A>G (p.Ile385Val)
c.1423A>G (p.Ile475Val)
c.1432A>G (p.Ile478Val)
c.778A>G (p.Ile260Val)
c.1222A>G (p.Ile408Val)
9g.135765711A>TCA375501570KCNT1c.1288A>T (p.Ile430Phe)
n.15A>T
n.27A>T
c.1129A>T (p.Ile377Phe)
c.1036A>T (p.Ile346Phe)
c.1045A>T (p.Ile349Phe)
c.1189A>T (p.Ile397Phe)
c.*898A>T (n.*898A>T)
c.1171A>T (p.Ile391Phe)
c.1231A>T (p.Ile411Phe)
n.1107A>T
c.1153A>T (p.Ile385Phe)
c.1423A>T (p.Ile475Phe)
c.1432A>T (p.Ile478Phe)
c.778A>T (p.Ile260Phe)
c.1222A>T (p.Ile408Phe)
9g.135765712T>ACA375501573KCNT1c.1289T>A (p.Ile430Asn)
n.16T>A
n.28T>A
c.1130T>A (p.Ile377Asn)
c.1037T>A (p.Ile346Asn)
c.1046T>A (p.Ile349Asn)
c.1190T>A (p.Ile397Asn)
c.*899T>A (n.*899T>A)
c.1172T>A (p.Ile391Asn)
c.1232T>A (p.Ile411Asn)
n.1108T>A
c.1154T>A (p.Ile385Asn)
c.1424T>A (p.Ile475Asn)
c.1433T>A (p.Ile478Asn)
c.779T>A (p.Ile260Asn)
c.1223T>A (p.Ile408Asn)
 dbSNP gnomAD v2 gnomAD v4
9g.135765712T>CCA375501576KCNT1c.1289T>C (p.Ile430Thr)
n.16T>C
n.28T>C
c.1130T>C (p.Ile377Thr)
c.1037T>C (p.Ile346Thr)
c.1046T>C (p.Ile349Thr)
c.1190T>C (p.Ile397Thr)
c.*899T>C (n.*899T>C)
c.1172T>C (p.Ile391Thr)
c.1232T>C (p.Ile411Thr)
n.1108T>C
c.1154T>C (p.Ile385Thr)
c.1424T>C (p.Ile475Thr)
c.1433T>C (p.Ile478Thr)
c.779T>C (p.Ile260Thr)
c.1223T>C (p.Ile408Thr)
 gnomAD v4
9g.135765712T>GCA375501578KCNT1c.1289T>G (p.Ile430Ser)
n.16T>G
n.28T>G
c.1130T>G (p.Ile377Ser)
c.1037T>G (p.Ile346Ser)
c.1046T>G (p.Ile349Ser)
c.1190T>G (p.Ile397Ser)
c.*899T>G (n.*899T>G)
c.1172T>G (p.Ile391Ser)
c.1232T>G (p.Ile411Ser)
n.1108T>G
c.1154T>G (p.Ile385Ser)
c.1424T>G (p.Ile475Ser)
c.1433T>G (p.Ile478Ser)
c.779T>G (p.Ile260Ser)
c.1223T>G (p.Ile408Ser)
9g.135765712T=CA1883866691KCNT1c.1289T= (p.Ile430=)
n.16T=
n.28T=
c.1130T= (p.Ile377=)
c.1037T= (p.Ile346=)
c.1046T= (p.Ile349=)
c.1190T= (p.Ile397=)
c.*899T= (n.*899T=)
c.1172T= (p.Ile391=)
c.1232T= (p.Ile411=)
n.1108T=
c.1154T= (p.Ile385=)
c.1424T= (p.Ile475=)
c.1433T= (p.Ile478=)
c.779T= (p.Ile260=)
c.1223T= (p.Ile408=)
9g.135765713C>ACA467698176KCNT1c.1290C>A (p.Ile430=)
n.17C>A
n.29C>A
c.1131C>A (p.Ile377=)
c.1038C>A (p.Ile346=)
c.1047C>A (p.Ile349=)
c.1191C>A (p.Ile397=)
c.*900C>A (n.*900C>A)
c.1173C>A (p.Ile391=)
c.1233C>A (p.Ile411=)
n.1109C>A
c.1155C>A (p.Ile385=)
c.1425C>A (p.Ile475=)
c.1434C>A (p.Ile478=)
c.780C>A (p.Ile260=)
c.1224C>A (p.Ile408=)
9g.135765713C>GCA375501581KCNT1c.1290C>G (p.Ile430Met)
n.17C>G
n.29C>G
c.1131C>G (p.Ile377Met)
c.1038C>G (p.Ile346Met)
c.1047C>G (p.Ile349Met)
c.1191C>G (p.Ile397Met)
c.*900C>G (n.*900C>G)
c.1173C>G (p.Ile391Met)
c.1233C>G (p.Ile411Met)
n.1109C>G
c.1155C>G (p.Ile385Met)
c.1425C>G (p.Ile475Met)
c.1434C>G (p.Ile478Met)
c.780C>G (p.Ile260Met)
c.1224C>G (p.Ile408Met)
 gnomAD v4
9g.135765713C>TCA467698177KCNT1c.1290C>T (p.Ile430=)
n.17C>T
n.29C>T
c.1131C>T (p.Ile377=)
c.1038C>T (p.Ile346=)
c.1047C>T (p.Ile349=)
c.1191C>T (p.Ile397=)
c.*900C>T (n.*900C>T)
c.1173C>T (p.Ile391=)
c.1233C>T (p.Ile411=)
n.1109C>T
c.1155C>T (p.Ile385=)
c.1425C>T (p.Ile475=)
c.1434C>T (p.Ile478=)
c.780C>T (p.Ile260=)
c.1224C>T (p.Ile408=)
 gnomAD v4
9g.135765714T>ACA375501584KCNT1c.1291T>A (p.Tyr431Asn)
n.18T>A
n.30T>A
c.1132T>A (p.Tyr378Asn)
c.1039T>A (p.Tyr347Asn)
c.1048T>A (p.Tyr350Asn)
c.1192T>A (p.Tyr398Asn)
c.*901T>A (n.*901T>A)
c.1174T>A (p.Tyr392Asn)
c.1234T>A (p.Tyr412Asn)
n.1110T>A
c.1156T>A (p.Tyr386Asn)
c.1426T>A (p.Tyr476Asn)
c.1435T>A (p.Tyr479Asn)
c.781T>A (p.Tyr261Asn)
c.1225T>A (p.Tyr409Asn)
9g.135765714T>CCA375501587KCNT1c.1291T>C (p.Tyr431His)
n.18T>C
n.30T>C
c.1132T>C (p.Tyr378His)
c.1039T>C (p.Tyr347His)
c.1048T>C (p.Tyr350His)
c.1192T>C (p.Tyr398His)
c.*901T>C (n.*901T>C)
c.1174T>C (p.Tyr392His)
c.1234T>C (p.Tyr412His)
n.1110T>C
c.1156T>C (p.Tyr386His)
c.1426T>C (p.Tyr476His)
c.1435T>C (p.Tyr479His)
c.781T>C (p.Tyr261His)
c.1225T>C (p.Tyr409His)
9g.135765714T>GCA375501589KCNT1c.1291T>G (p.Tyr431Asp)
n.18T>G
n.30T>G
c.1132T>G (p.Tyr378Asp)
c.1039T>G (p.Tyr347Asp)
c.1048T>G (p.Tyr350Asp)
c.1192T>G (p.Tyr398Asp)
c.*901T>G (n.*901T>G)
c.1174T>G (p.Tyr392Asp)
c.1234T>G (p.Tyr412Asp)
n.1110T>G
c.1156T>G (p.Tyr386Asp)
c.1426T>G (p.Tyr476Asp)
c.1435T>G (p.Tyr479Asp)
c.781T>G (p.Tyr261Asp)
c.1225T>G (p.Tyr409Asp)
9g.135765715A>CCA375501597KCNT1c.1292A>C (p.Tyr431Ser)
n.19A>C
n.31A>C
c.1133A>C (p.Tyr378Ser)
c.1040A>C (p.Tyr347Ser)
c.1049A>C (p.Tyr350Ser)
c.1193A>C (p.Tyr398Ser)
c.*902A>C (n.*902A>C)
c.1175A>C (p.Tyr392Ser)
c.1235A>C (p.Tyr412Ser)
n.1111A>C
c.1157A>C (p.Tyr386Ser)
c.1427A>C (p.Tyr476Ser)
c.1436A>C (p.Tyr479Ser)
c.782A>C (p.Tyr261Ser)
c.1226A>C (p.Tyr409Ser)
9g.135765715A>GCA375501599KCNT1c.1292A>G (p.Tyr431Cys)
n.19A>G
n.31A>G
c.1133A>G (p.Tyr378Cys)
c.1040A>G (p.Tyr347Cys)
c.1049A>G (p.Tyr350Cys)
c.1193A>G (p.Tyr398Cys)
c.*902A>G (n.*902A>G)
c.1175A>G (p.Tyr392Cys)
c.1235A>G (p.Tyr412Cys)
n.1111A>G
c.1157A>G (p.Tyr386Cys)
c.1427A>G (p.Tyr476Cys)
c.1436A>G (p.Tyr479Cys)
c.782A>G (p.Tyr261Cys)
c.1226A>G (p.Tyr409Cys)
 gnomAD v4
9g.135765715A>TCA375501594KCNT1c.1292A>T (p.Tyr431Phe)
n.19A>T
n.31A>T
c.1133A>T (p.Tyr378Phe)
c.1040A>T (p.Tyr347Phe)
c.1049A>T (p.Tyr350Phe)
c.1193A>T (p.Tyr398Phe)
c.*902A>T (n.*902A>T)
c.1175A>T (p.Tyr392Phe)
c.1235A>T (p.Tyr412Phe)
n.1111A>T
c.1157A>T (p.Tyr386Phe)
c.1427A>T (p.Tyr476Phe)
c.1436A>T (p.Tyr479Phe)
c.782A>T (p.Tyr261Phe)
c.1226A>T (p.Tyr409Phe)
9g.135765716C>ACA375501603KCNT1c.1293C>A (p.Tyr431Ter)
n.20C>A
n.32C>A
c.1134C>A (p.Tyr378Ter)
c.1041C>A (p.Tyr347Ter)
c.1050C>A (p.Tyr350Ter)
c.1194C>A (p.Tyr398Ter)
c.*903C>A (n.*903C>A)
c.1176C>A (p.Tyr392Ter)
c.1236C>A (p.Tyr412Ter)
n.1112C>A
c.1158C>A (p.Tyr386Ter)
c.1428C>A (p.Tyr476Ter)
c.1437C>A (p.Tyr479Ter)
c.783C>A (p.Tyr261Ter)
c.1227C>A (p.Tyr409Ter)
9g.135765716C=CA1883866692KCNT1c.1293C= (p.Tyr431=)
n.20C=
n.32C=
c.1134C= (p.Tyr378=)
c.1041C= (p.Tyr347=)
c.1050C= (p.Tyr350=)
c.1194C= (p.Tyr398=)
c.*903C= (n.*903C=)
c.1176C= (p.Tyr392=)
c.1236C= (p.Tyr412=)
n.1112C=
c.1158C= (p.Tyr386=)
c.1428C= (p.Tyr476=)
c.1437C= (p.Tyr479=)
c.783C= (p.Tyr261=)
c.1227C= (p.Tyr409=)
9g.135765716C>GCA375501601KCNT1c.1293C>G (p.Tyr431Ter)
n.20C>G
n.32C>G
c.1134C>G (p.Tyr378Ter)
c.1041C>G (p.Tyr347Ter)
c.1050C>G (p.Tyr350Ter)
c.1194C>G (p.Tyr398Ter)
c.*903C>G (n.*903C>G)
c.1176C>G (p.Tyr392Ter)
c.1236C>G (p.Tyr412Ter)
n.1112C>G
c.1158C>G (p.Tyr386Ter)
c.1428C>G (p.Tyr476Ter)
c.1437C>G (p.Tyr479Ter)
c.783C>G (p.Tyr261Ter)
c.1227C>G (p.Tyr409Ter)
 gnomAD v4
9g.135765716C>TCA467698178KCNT1c.1293C>T (p.Tyr431=)
n.20C>T
n.32C>T
c.1134C>T (p.Tyr378=)
c.1041C>T (p.Tyr347=)
c.1050C>T (p.Tyr350=)
c.1194C>T (p.Tyr398=)
c.*903C>T (n.*903C>T)
c.1176C>T (p.Tyr392=)
c.1236C>T (p.Tyr412=)
n.1112C>T
c.1158C>T (p.Tyr386=)
c.1428C>T (p.Tyr476=)
c.1437C>T (p.Tyr479=)
c.783C>T (p.Tyr261=)
c.1227C>T (p.Tyr409=)
 dbSNP gnomAD v2 gnomAD v4
9g.135765717C>ACA375501606KCNT1c.1294C>A (p.Leu432Ile)
n.21C>A
n.33C>A
c.1135C>A (p.Leu379Ile)
c.1042C>A (p.Leu348Ile)
c.1051C>A (p.Leu351Ile)
c.1195C>A (p.Leu399Ile)
c.*904C>A (n.*904C>A)
c.1177C>A (p.Leu393Ile)
c.1237C>A (p.Leu413Ile)
n.1113C>A
c.1159C>A (p.Leu387Ile)
c.1429C>A (p.Leu477Ile)
c.1438C>A (p.Leu480Ile)
c.784C>A (p.Leu262Ile)
c.1228C>A (p.Leu410Ile)
9g.135765717C>GCA375501608KCNT1c.1294C>G (p.Leu432Val)
n.21C>G
n.33C>G
c.1135C>G (p.Leu379Val)
c.1042C>G (p.Leu348Val)
c.1051C>G (p.Leu351Val)
c.1195C>G (p.Leu399Val)
c.*904C>G (n.*904C>G)
c.1177C>G (p.Leu393Val)
c.1237C>G (p.Leu413Val)
n.1113C>G
c.1159C>G (p.Leu387Val)
c.1429C>G (p.Leu477Val)
c.1438C>G (p.Leu480Val)
c.784C>G (p.Leu262Val)
c.1228C>G (p.Leu410Val)
9g.135765717C>TCA375501610KCNT1c.1294C>T (p.Leu432Phe)
n.21C>T
n.33C>T
c.1135C>T (p.Leu379Phe)
c.1042C>T (p.Leu348Phe)
c.1051C>T (p.Leu351Phe)
c.1195C>T (p.Leu399Phe)
c.*904C>T (n.*904C>T)
c.1177C>T (p.Leu393Phe)
c.1237C>T (p.Leu413Phe)
n.1113C>T
c.1159C>T (p.Leu387Phe)
c.1429C>T (p.Leu477Phe)
c.1438C>T (p.Leu480Phe)
c.784C>T (p.Leu262Phe)
c.1228C>T (p.Leu410Phe)
9g.135765718T>ACA375501615KCNT1c.1295T>A (p.Leu432His)
n.22T>A
n.34T>A
c.1136T>A (p.Leu379His)
c.1043T>A (p.Leu348His)
c.1052T>A (p.Leu351His)
c.1196T>A (p.Leu399His)
c.*905T>A (n.*905T>A)
c.1178T>A (p.Leu393His)
c.1238T>A (p.Leu413His)
n.1114T>A
c.1160T>A (p.Leu387His)
c.1430T>A (p.Leu477His)
c.1439T>A (p.Leu480His)
c.785T>A (p.Leu262His)
c.1229T>A (p.Leu410His)
9g.135765718T>CCA375501617KCNT1c.1295T>C (p.Leu432Pro)
n.22T>C
n.34T>C
c.1136T>C (p.Leu379Pro)
c.1043T>C (p.Leu348Pro)
c.1052T>C (p.Leu351Pro)
c.1196T>C (p.Leu399Pro)
c.*905T>C (n.*905T>C)
c.1178T>C (p.Leu393Pro)
c.1238T>C (p.Leu413Pro)
n.1114T>C
c.1160T>C (p.Leu387Pro)
c.1430T>C (p.Leu477Pro)
c.1439T>C (p.Leu480Pro)
c.785T>C (p.Leu262Pro)
c.1229T>C (p.Leu410Pro)
9g.135765718T>GCA375501619KCNT1c.1295T>G (p.Leu432Arg)
n.22T>G
n.34T>G
c.1136T>G (p.Leu379Arg)
c.1043T>G (p.Leu348Arg)
c.1052T>G (p.Leu351Arg)
c.1196T>G (p.Leu399Arg)
c.*905T>G (n.*905T>G)
c.1178T>G (p.Leu393Arg)
c.1238T>G (p.Leu413Arg)
n.1114T>G
c.1160T>G (p.Leu387Arg)
c.1430T>G (p.Leu477Arg)
c.1439T>G (p.Leu480Arg)
c.785T>G (p.Leu262Arg)
c.1229T>G (p.Leu410Arg)
9g.135765719C>ACA467698179KCNT1c.1296C>A (p.Leu432=)
n.23C>A
n.35C>A
c.1137C>A (p.Leu379=)
c.1044C>A (p.Leu348=)
c.1053C>A (p.Leu351=)
c.1197C>A (p.Leu399=)
c.*906C>A (n.*906C>A)
c.1179C>A (p.Leu393=)
c.1239C>A (p.Leu413=)
n.1115C>A
c.1161C>A (p.Leu387=)
c.1431C>A (p.Leu477=)
c.1440C>A (p.Leu480=)
c.786C>A (p.Leu262=)
c.1230C>A (p.Leu410=)
9g.135765719C=CA1883866693KCNT1c.1296C= (p.Leu432=)
n.23C=
n.35C=
c.1137C= (p.Leu379=)
c.1044C= (p.Leu348=)
c.1053C= (p.Leu351=)
c.1197C= (p.Leu399=)
c.*906C= (n.*906C=)
c.1179C= (p.Leu393=)
c.1239C= (p.Leu413=)
n.1115C=
c.1161C= (p.Leu387=)
c.1431C= (p.Leu477=)
c.1440C= (p.Leu480=)
c.786C= (p.Leu262=)
c.1230C= (p.Leu410=)
9g.135765719C>GCA16605596KCNT1c.1296C>G (p.Leu432=)
n.23C>G
n.35C>G
c.1137C>G (p.Leu379=)
c.1044C>G (p.Leu348=)
c.1053C>G (p.Leu351=)
c.1197C>G (p.Leu399=)
c.*906C>G (n.*906C>G)
c.1179C>G (p.Leu393=)
c.1239C>G (p.Leu413=)
n.1115C>G
c.1161C>G (p.Leu387=)
c.1431C>G (p.Leu477=)
c.1440C>G (p.Leu480=)
c.786C>G (p.Leu262=)
c.1230C>G (p.Leu410=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135765719C>TCA467698180KCNT1c.1296C>T (p.Leu432=)
n.23C>T
n.35C>T
c.1137C>T (p.Leu379=)
c.1044C>T (p.Leu348=)
c.1053C>T (p.Leu351=)
c.1197C>T (p.Leu399=)
c.*906C>T (n.*906C>T)
c.1179C>T (p.Leu393=)
c.1239C>T (p.Leu413=)
n.1115C>T
c.1161C>T (p.Leu387=)
c.1431C>T (p.Leu477=)
c.1440C>T (p.Leu480=)
c.786C>T (p.Leu262=)
c.1230C>T (p.Leu410=)
 dbSNP gnomAD v2 gnomAD v4
9g.135765720C>ACA375501624KCNT1c.1297C>A (p.Gln433Lys)
n.24C>A
n.36C>A
c.1138C>A (p.Gln380Lys)
c.1045C>A (p.Gln349Lys)
c.1054C>A (p.Gln352Lys)
c.1198C>A (p.Gln400Lys)
c.*907C>A (n.*907C>A)
c.1180C>A (p.Gln394Lys)
c.1240C>A (p.Gln414Lys)
n.1116C>A
c.1162C>A (p.Gln388Lys)
c.1432C>A (p.Gln478Lys)
c.1441C>A (p.Gln481Lys)
c.787C>A (p.Gln263Lys)
c.1231C>A (p.Gln411Lys)
9g.135765720C=CA1883866694KCNT1c.1297C= (p.Gln433=)
n.24C=
n.36C=
c.1138C= (p.Gln380=)
c.1045C= (p.Gln349=)
c.1054C= (p.Gln352=)
c.1198C= (p.Gln400=)
c.*907C= (n.*907C=)
c.1180C= (p.Gln394=)
c.1240C= (p.Gln414=)
n.1116C=
c.1162C= (p.Gln388=)
c.1432C= (p.Gln478=)
c.1441C= (p.Gln481=)
c.787C= (p.Gln263=)
c.1231C= (p.Gln411=)
9g.135765720C>GCA375501633KCNT1c.1297C>G (p.Gln433Glu)
n.24C>G
n.36C>G
c.1138C>G (p.Gln380Glu)
c.1045C>G (p.Gln349Glu)
c.1054C>G (p.Gln352Glu)
c.1198C>G (p.Gln400Glu)
c.*907C>G (n.*907C>G)
c.1180C>G (p.Gln394Glu)
c.1240C>G (p.Gln414Glu)
n.1116C>G
c.1162C>G (p.Gln388Glu)
c.1432C>G (p.Gln478Glu)
c.1441C>G (p.Gln481Glu)
c.787C>G (p.Gln263Glu)
c.1231C>G (p.Gln411Glu)
9g.135765720C>TCA375501635KCNT1c.1297C>T (p.Gln433Ter)
n.24C>T
n.36C>T
c.1138C>T (p.Gln380Ter)
c.1045C>T (p.Gln349Ter)
c.1054C>T (p.Gln352Ter)
c.1198C>T (p.Gln400Ter)
c.*907C>T (n.*907C>T)
c.1180C>T (p.Gln394Ter)
c.1240C>T (p.Gln414Ter)
n.1116C>T
c.1162C>T (p.Gln388Ter)
c.1432C>T (p.Gln478Ter)
c.1441C>T (p.Gln481Ter)
c.787C>T (p.Gln263Ter)
c.1231C>T (p.Gln411Ter)
 dbSNP gnomAD v4
9g.135765721A>CCA375501638KCNT1c.1298A>C (p.Gln433Pro)
n.25A>C
n.37A>C
c.1139A>C (p.Gln380Pro)
c.1046A>C (p.Gln349Pro)
c.1055A>C (p.Gln352Pro)
c.1199A>C (p.Gln400Pro)
c.*908A>C (n.*908A>C)
c.1181A>C (p.Gln394Pro)
c.1241A>C (p.Gln414Pro)
n.1117A>C
c.1163A>C (p.Gln388Pro)
c.1433A>C (p.Gln478Pro)
c.1442A>C (p.Gln481Pro)
c.788A>C (p.Gln263Pro)
c.1232A>C (p.Gln411Pro)
9g.135765721A>GCA375501641KCNT1c.1298A>G (p.Gln433Arg)
n.25A>G
n.37A>G
c.1139A>G (p.Gln380Arg)
c.1046A>G (p.Gln349Arg)
c.1055A>G (p.Gln352Arg)
c.1199A>G (p.Gln400Arg)
c.*908A>G (n.*908A>G)
c.1181A>G (p.Gln394Arg)
c.1241A>G (p.Gln414Arg)
n.1117A>G
c.1163A>G (p.Gln388Arg)
c.1433A>G (p.Gln478Arg)
c.1442A>G (p.Gln481Arg)
c.788A>G (p.Gln263Arg)
c.1232A>G (p.Gln411Arg)
9g.135765721A>TCA375501643KCNT1c.1298A>T (p.Gln433Leu)
n.25A>T
n.37A>T
c.1139A>T (p.Gln380Leu)
c.1046A>T (p.Gln349Leu)
c.1055A>T (p.Gln352Leu)
c.1199A>T (p.Gln400Leu)
c.*908A>T (n.*908A>T)
c.1181A>T (p.Gln394Leu)
c.1241A>T (p.Gln414Leu)
n.1117A>T
c.1163A>T (p.Gln388Leu)
c.1433A>T (p.Gln478Leu)
c.1442A>T (p.Gln481Leu)
c.788A>T (p.Gln263Leu)
c.1232A>T (p.Gln411Leu)
9g.135765722G>ACA467698181KCNT1c.1299G>A (p.Gln433=)
n.26G>A
n.38G>A
c.1140G>A (p.Gln380=)
c.1047G>A (p.Gln349=)
c.1056G>A (p.Gln352=)
c.1200G>A (p.Gln400=)
c.*909G>A (n.*909G>A)
c.1182G>A (p.Gln394=)
c.1242G>A (p.Gln414=)
n.1118G>A
c.1164G>A (p.Gln388=)
c.1434G>A (p.Gln478=)
c.1443G>A (p.Gln481=)
c.789G>A (p.Gln263=)
c.1233G>A (p.Gln411=)
9g.135765722G>CCA375501645KCNT1c.1299G>C (p.Gln433His)
n.26G>C
n.38G>C
c.1140G>C (p.Gln380His)
c.1047G>C (p.Gln349His)
c.1056G>C (p.Gln352His)
c.1200G>C (p.Gln400His)
c.*909G>C (n.*909G>C)
c.1182G>C (p.Gln394His)
c.1242G>C (p.Gln414His)
n.1118G>C
c.1164G>C (p.Gln388His)
c.1434G>C (p.Gln478His)
c.1443G>C (p.Gln481His)
c.789G>C (p.Gln263His)
c.1233G>C (p.Gln411His)
9g.135765722G>TCA375501647KCNT1c.1299G>T (p.Gln433His)
n.26G>T
n.38G>T
c.1140G>T (p.Gln380His)
c.1047G>T (p.Gln349His)
c.1056G>T (p.Gln352His)
c.1200G>T (p.Gln400His)
c.*909G>T (n.*909G>T)
c.1182G>T (p.Gln394His)
c.1242G>T (p.Gln414His)
n.1118G>T
c.1164G>T (p.Gln388His)
c.1434G>T (p.Gln478His)
c.1443G>T (p.Gln481His)
c.789G>T (p.Gln263His)
c.1233G>T (p.Gln411His)
9g.135765723G>ACA375501652KCNT1c.1300G>A (p.Gly434Ser)
n.27G>A
n.39G>A
c.1141G>A (p.Gly381Ser)
c.1048G>A (p.Gly350Ser)
c.1057G>A (p.Gly353Ser)
c.1201G>A (p.Gly401Ser)
c.*910G>A (n.*910G>A)
c.1183G>A (p.Gly395Ser)
c.1243G>A (p.Gly415Ser)
n.1119G>A
c.1165G>A (p.Gly389Ser)
c.1435G>A (p.Gly479Ser)
c.1444G>A (p.Gly482Ser)
c.790G>A (p.Gly264Ser)
c.1234G>A (p.Gly412Ser)
 ClinVar
9g.135765723G>CCA375501653KCNT1c.1300G>C (p.Gly434Arg)
n.27G>C
n.39G>C
c.1141G>C (p.Gly381Arg)
c.1048G>C (p.Gly350Arg)
c.1057G>C (p.Gly353Arg)
c.1201G>C (p.Gly401Arg)
c.*910G>C (n.*910G>C)
c.1183G>C (p.Gly395Arg)
c.1243G>C (p.Gly415Arg)
n.1119G>C
c.1165G>C (p.Gly389Arg)
c.1435G>C (p.Gly479Arg)
c.1444G>C (p.Gly482Arg)
c.790G>C (p.Gly264Arg)
c.1234G>C (p.Gly412Arg)
9g.135765723G>TCA375501654KCNT1c.1300G>T (p.Gly434Cys)
n.27G>T
n.39G>T
c.1141G>T (p.Gly381Cys)
c.1048G>T (p.Gly350Cys)
c.1057G>T (p.Gly353Cys)
c.1201G>T (p.Gly401Cys)
c.*910G>T (n.*910G>T)
c.1183G>T (p.Gly395Cys)
c.1243G>T (p.Gly415Cys)
n.1119G>T
c.1165G>T (p.Gly389Cys)
c.1435G>T (p.Gly479Cys)
c.1444G>T (p.Gly482Cys)
c.790G>T (p.Gly264Cys)
c.1234G>T (p.Gly412Cys)
9g.135765724G>ACA375501659KCNT1c.1301G>A (p.Gly434Asp)
n.28G>A
n.40G>A
c.1142G>A (p.Gly381Asp)
c.1049G>A (p.Gly350Asp)
c.1058G>A (p.Gly353Asp)
c.1202G>A (p.Gly401Asp)
c.*911G>A (n.*911G>A)
c.1184G>A (p.Gly395Asp)
c.1244G>A (p.Gly415Asp)
n.1120G>A
c.1166G>A (p.Gly389Asp)
c.1436G>A (p.Gly479Asp)
c.1445G>A (p.Gly482Asp)
c.791G>A (p.Gly264Asp)
c.1235G>A (p.Gly412Asp)
9g.135765724G>CCA375501661KCNT1c.1301G>C (p.Gly434Ala)
n.28G>C
n.40G>C
c.1142G>C (p.Gly381Ala)
c.1049G>C (p.Gly350Ala)
c.1058G>C (p.Gly353Ala)
c.1202G>C (p.Gly401Ala)
c.*911G>C (n.*911G>C)
c.1184G>C (p.Gly395Ala)
c.1244G>C (p.Gly415Ala)
n.1120G>C
c.1166G>C (p.Gly389Ala)
c.1436G>C (p.Gly479Ala)
c.1445G>C (p.Gly482Ala)
c.791G>C (p.Gly264Ala)
c.1235G>C (p.Gly412Ala)
9g.135765724G>TCA375501663KCNT1c.1301G>T (p.Gly434Val)
n.28G>T
n.40G>T
c.1142G>T (p.Gly381Val)
c.1049G>T (p.Gly350Val)
c.1058G>T (p.Gly353Val)
c.1202G>T (p.Gly401Val)
c.*911G>T (n.*911G>T)
c.1184G>T (p.Gly395Val)
c.1244G>T (p.Gly415Val)
n.1120G>T
c.1166G>T (p.Gly389Val)
c.1436G>T (p.Gly479Val)
c.1445G>T (p.Gly482Val)
c.791G>T (p.Gly264Val)
c.1235G>T (p.Gly412Val)
9g.135765725C>ACA467698182KCNT1c.1302C>A (p.Gly434=)
n.29C>A
n.41C>A
c.1143C>A (p.Gly381=)
c.1050C>A (p.Gly350=)
c.1059C>A (p.Gly353=)
c.1203C>A (p.Gly401=)
c.*912C>A (n.*912C>A)
c.1185C>A (p.Gly395=)
c.1245C>A (p.Gly415=)
n.1121C>A
c.1167C>A (p.Gly389=)
c.1437C>A (p.Gly479=)
c.1446C>A (p.Gly482=)
c.792C>A (p.Gly264=)
c.1236C>A (p.Gly412=)
 gnomAD v4
9g.135765725C=CA1883866695KCNT1c.1302C= (p.Gly434=)
n.29C=
n.41C=
c.1143C= (p.Gly381=)
c.1050C= (p.Gly350=)
c.1059C= (p.Gly353=)
c.1203C= (p.Gly401=)
c.*912C= (n.*912C=)
c.1185C= (p.Gly395=)
c.1245C= (p.Gly415=)
n.1121C=
c.1167C= (p.Gly389=)
c.1437C= (p.Gly479=)
c.1446C= (p.Gly482=)
c.792C= (p.Gly264=)
c.1236C= (p.Gly412=)
9g.135765725C>GCA467698183KCNT1c.1302C>G (p.Gly434=)
n.29C>G
n.41C>G
c.1143C>G (p.Gly381=)
c.1050C>G (p.Gly350=)
c.1059C>G (p.Gly353=)
c.1203C>G (p.Gly401=)
c.*912C>G (n.*912C>G)
c.1185C>G (p.Gly395=)
c.1245C>G (p.Gly415=)
n.1121C>G
c.1167C>G (p.Gly389=)
c.1437C>G (p.Gly479=)
c.1446C>G (p.Gly482=)
c.792C>G (p.Gly264=)
c.1236C>G (p.Gly412=)
9g.135765725C>TCA467698184KCNT1c.1302C>T (p.Gly434=)
n.29C>T
n.41C>T
c.1143C>T (p.Gly381=)
c.1050C>T (p.Gly350=)
c.1059C>T (p.Gly353=)
c.1203C>T (p.Gly401=)
c.*912C>T (n.*912C>T)
c.1185C>T (p.Gly395=)
c.1245C>T (p.Gly415=)
n.1121C>T
c.1167C>T (p.Gly389=)
c.1437C>T (p.Gly479=)
c.1446C>T (p.Gly482=)
c.792C>T (p.Gly264=)
c.1236C>T (p.Gly412=)
 dbSNP gnomAD v2 gnomAD v4
9g.135765726delCA2692516608KCNT1c.1303del (p.Ser435LeufsTer?)
n.30del
n.42del
c.1144del (p.Ser382LeufsTer?)
c.1051del (p.Ser351LeufsTer?)
c.1060del (p.Ser354LeufsTer?)
c.1204del (p.Ser402LeufsTer?)
c.*913del (n.*913del)
c.1186del (p.Ser396LeufsTer?)
c.1246del (p.Ser416LeufsTer?)
n.1122del
c.1168del (p.Ser390LeufsTer?)
c.1438del (p.Ser480LeufsTer?)
c.1447del (p.Ser483LeufsTer?)
c.793del (p.Ser265LeufsTer?)
c.1237del (p.Ser413LeufsTer?)
 gnomAD v4
9g.135765726T>ACA375501666KCNT1c.1303T>A (p.Ser435Thr)
n.30T>A
n.42T>A
c.1144T>A (p.Ser382Thr)
c.1051T>A (p.Ser351Thr)
c.1060T>A (p.Ser354Thr)
c.1204T>A (p.Ser402Thr)
c.*913T>A (n.*913T>A)
c.1186T>A (p.Ser396Thr)
c.1246T>A (p.Ser416Thr)
n.1122T>A
c.1168T>A (p.Ser390Thr)
c.1438T>A (p.Ser480Thr)
c.1447T>A (p.Ser483Thr)
c.793T>A (p.Ser265Thr)
c.1237T>A (p.Ser413Thr)
9g.135765726T>CCA375501679KCNT1c.1303T>C (p.Ser435Pro)
n.30T>C
n.42T>C
c.1144T>C (p.Ser382Pro)
c.1051T>C (p.Ser351Pro)
c.1060T>C (p.Ser354Pro)
c.1204T>C (p.Ser402Pro)
c.*913T>C (n.*913T>C)
c.1186T>C (p.Ser396Pro)
c.1246T>C (p.Ser416Pro)
n.1122T>C
c.1168T>C (p.Ser390Pro)
c.1438T>C (p.Ser480Pro)
c.1447T>C (p.Ser483Pro)
c.793T>C (p.Ser265Pro)
c.1237T>C (p.Ser413Pro)
 gnomAD v4
9g.135765726T>GCA375501682KCNT1c.1303T>G (p.Ser435Ala)
n.30T>G
n.42T>G
c.1144T>G (p.Ser382Ala)
c.1051T>G (p.Ser351Ala)
c.1060T>G (p.Ser354Ala)
c.1204T>G (p.Ser402Ala)
c.*913T>G (n.*913T>G)
c.1186T>G (p.Ser396Ala)
c.1246T>G (p.Ser416Ala)
n.1122T>G
c.1168T>G (p.Ser390Ala)
c.1438T>G (p.Ser480Ala)
c.1447T>G (p.Ser483Ala)
c.793T>G (p.Ser265Ala)
c.1237T>G (p.Ser413Ala)
9g.135765727C>ACA375501684KCNT1c.1304C>A (p.Ser435Tyr)
n.31C>A
n.43C>A
c.1145C>A (p.Ser382Tyr)
c.1052C>A (p.Ser351Tyr)
c.1061C>A (p.Ser354Tyr)
c.1205C>A (p.Ser402Tyr)
c.*914C>A (n.*914C>A)
c.1187C>A (p.Ser396Tyr)
c.1247C>A (p.Ser416Tyr)
n.1123C>A
c.1169C>A (p.Ser390Tyr)
c.1439C>A (p.Ser480Tyr)
c.1448C>A (p.Ser483Tyr)
c.794C>A (p.Ser265Tyr)
c.1238C>A (p.Ser413Tyr)
 gnomAD v4
9g.135765727C>GCA375501686KCNT1c.1304C>G (p.Ser435Cys)
n.31C>G
n.43C>G
c.1145C>G (p.Ser382Cys)
c.1052C>G (p.Ser351Cys)
c.1061C>G (p.Ser354Cys)
c.1205C>G (p.Ser402Cys)
c.*914C>G (n.*914C>G)
c.1187C>G (p.Ser396Cys)
c.1247C>G (p.Ser416Cys)
n.1123C>G
c.1169C>G (p.Ser390Cys)
c.1439C>G (p.Ser480Cys)
c.1448C>G (p.Ser483Cys)
c.794C>G (p.Ser265Cys)
c.1238C>G (p.Ser413Cys)
9g.135765727C>TCA375501688KCNT1c.1304C>T (p.Ser435Phe)
n.31C>T
n.43C>T
c.1145C>T (p.Ser382Phe)
c.1052C>T (p.Ser351Phe)
c.1061C>T (p.Ser354Phe)
c.1205C>T (p.Ser402Phe)
c.*914C>T (n.*914C>T)
c.1187C>T (p.Ser396Phe)
c.1247C>T (p.Ser416Phe)
n.1123C>T
c.1169C>T (p.Ser390Phe)
c.1439C>T (p.Ser480Phe)
c.1448C>T (p.Ser483Phe)
c.794C>T (p.Ser265Phe)
c.1238C>T (p.Ser413Phe)
9g.135765728T>ACA467698185KCNT1c.1305T>A (p.Ser435=)
n.32T>A
n.44T>A
c.1146T>A (p.Ser382=)
c.1053T>A (p.Ser351=)
c.1062T>A (p.Ser354=)
c.1206T>A (p.Ser402=)
c.*915T>A (n.*915T>A)
c.1188T>A (p.Ser396=)
c.1248T>A (p.Ser416=)
n.1124T>A
c.1170T>A (p.Ser390=)
c.1440T>A (p.Ser480=)
c.1449T>A (p.Ser483=)
c.795T>A (p.Ser265=)
c.1239T>A (p.Ser413=)
9g.135765728T>CCA467698186KCNT1c.1305T>C (p.Ser435=)
n.32T>C
n.44T>C
c.1146T>C (p.Ser382=)
c.1053T>C (p.Ser351=)
c.1062T>C (p.Ser354=)
c.1206T>C (p.Ser402=)
c.*915T>C (n.*915T>C)
c.1188T>C (p.Ser396=)
c.1248T>C (p.Ser416=)
n.1124T>C
c.1170T>C (p.Ser390=)
c.1440T>C (p.Ser480=)
c.1449T>C (p.Ser483=)
c.795T>C (p.Ser265=)
c.1239T>C (p.Ser413=)
 gnomAD v4
9g.135765728T>GCA467698187KCNT1c.1305T>G (p.Ser435=)
n.32T>G
n.44T>G
c.1146T>G (p.Ser382=)
c.1053T>G (p.Ser351=)
c.1062T>G (p.Ser354=)
c.1206T>G (p.Ser402=)
c.*915T>G (n.*915T>G)
c.1188T>G (p.Ser396=)
c.1248T>G (p.Ser416=)
n.1124T>G
c.1170T>G (p.Ser390=)
c.1440T>G (p.Ser480=)
c.1449T>G (p.Ser483=)
c.795T>G (p.Ser265=)
c.1239T>G (p.Ser413=)
9g.135765729G>ACA375501695KCNT1c.1306G>A (p.Ala436Thr)
n.33G>A
n.45G>A
c.1147G>A (p.Ala383Thr)
c.1054G>A (p.Ala352Thr)
c.1063G>A (p.Ala355Thr)
c.1207G>A (p.Ala403Thr)
c.*916G>A (n.*916G>A)
c.1189G>A (p.Ala397Thr)
c.1249G>A (p.Ala417Thr)
n.1125G>A
c.1171G>A (p.Ala391Thr)
c.1441G>A (p.Ala481Thr)
c.1450G>A (p.Ala484Thr)
c.796G>A (p.Ala266Thr)
c.1240G>A (p.Ala414Thr)
 ClinVar dbSNP gnomAD v4
9g.135765729G>CCA375501698KCNT1c.1306G>C (p.Ala436Pro)
n.33G>C
n.45G>C
c.1147G>C (p.Ala383Pro)
c.1054G>C (p.Ala352Pro)
c.1063G>C (p.Ala355Pro)
c.1207G>C (p.Ala403Pro)
c.*916G>C (n.*916G>C)
c.1189G>C (p.Ala397Pro)
c.1249G>C (p.Ala417Pro)
n.1125G>C
c.1171G>C (p.Ala391Pro)
c.1441G>C (p.Ala481Pro)
c.1450G>C (p.Ala484Pro)
c.796G>C (p.Ala266Pro)
c.1240G>C (p.Ala414Pro)
 ClinVar dbSNP
9g.135765729G=CA1883866696KCNT1c.1306G= (p.Ala436=)
n.33G=
n.45G=
c.1147G= (p.Ala383=)
c.1054G= (p.Ala352=)
c.1063G= (p.Ala355=)
c.1207G= (p.Ala403=)
c.*916G= (n.*916G=)
c.1189G= (p.Ala397=)
c.1249G= (p.Ala417=)
n.1125G=
c.1171G= (p.Ala391=)
c.1441G= (p.Ala481=)
c.1450G= (p.Ala484=)
c.796G= (p.Ala266=)
c.1240G= (p.Ala414=)
9g.135765729G>TCA375501692KCNT1c.1306G>T (p.Ala436Ser)
n.33G>T
n.45G>T
c.1147G>T (p.Ala383Ser)
c.1054G>T (p.Ala352Ser)
c.1063G>T (p.Ala355Ser)
c.1207G>T (p.Ala403Ser)
c.*916G>T (n.*916G>T)
c.1189G>T (p.Ala397Ser)
c.1249G>T (p.Ala417Ser)
n.1125G>T
c.1171G>T (p.Ala391Ser)
c.1441G>T (p.Ala481Ser)
c.1450G>T (p.Ala484Ser)
c.796G>T (p.Ala266Ser)
c.1240G>T (p.Ala414Ser)
9g.135765730C>ACA375501701KCNT1c.1307C>A (p.Ala436Glu)
n.34C>A
n.46C>A
c.1148C>A (p.Ala383Glu)
c.1055C>A (p.Ala352Glu)
c.1064C>A (p.Ala355Glu)
c.1208C>A (p.Ala403Glu)
c.*917C>A (n.*917C>A)
c.1190C>A (p.Ala397Glu)
c.1250C>A (p.Ala417Glu)
n.1126C>A
c.1172C>A (p.Ala391Glu)
c.1442C>A (p.Ala481Glu)
c.1451C>A (p.Ala484Glu)
c.797C>A (p.Ala266Glu)
c.1241C>A (p.Ala414Glu)
9g.135765730C>GCA375501704KCNT1c.1307C>G (p.Ala436Gly)
n.34C>G
n.46C>G
c.1148C>G (p.Ala383Gly)
c.1055C>G (p.Ala352Gly)
c.1064C>G (p.Ala355Gly)
c.1208C>G (p.Ala403Gly)
c.*917C>G (n.*917C>G)
c.1190C>G (p.Ala397Gly)
c.1250C>G (p.Ala417Gly)
n.1126C>G
c.1172C>G (p.Ala391Gly)
c.1442C>G (p.Ala481Gly)
c.1451C>G (p.Ala484Gly)
c.797C>G (p.Ala266Gly)
c.1241C>G (p.Ala414Gly)
9g.135765730C>TCA375501707KCNT1c.1307C>T (p.Ala436Val)
n.34C>T
n.46C>T
c.1148C>T (p.Ala383Val)
c.1055C>T (p.Ala352Val)
c.1064C>T (p.Ala355Val)
c.1208C>T (p.Ala403Val)
c.*917C>T (n.*917C>T)
c.1190C>T (p.Ala397Val)
c.1250C>T (p.Ala417Val)
n.1126C>T
c.1172C>T (p.Ala391Val)
c.1442C>T (p.Ala481Val)
c.1451C>T (p.Ala484Val)
c.797C>T (p.Ala266Val)
c.1241C>T (p.Ala414Val)
 gnomAD v4
9g.135765731A>CCA467698188KCNT1c.1308A>C (p.Ala436=)
n.35A>C
n.47A>C
c.1149A>C (p.Ala383=)
c.1056A>C (p.Ala352=)
c.1065A>C (p.Ala355=)
c.1209A>C (p.Ala403=)
c.*918A>C (n.*918A>C)
c.1191A>C (p.Ala397=)
c.1251A>C (p.Ala417=)
n.1127A>C
c.1173A>C (p.Ala391=)
c.1443A>C (p.Ala481=)
c.1452A>C (p.Ala484=)
c.798A>C (p.Ala266=)
c.1242A>C (p.Ala414=)
9g.135765731A>GCA467698189KCNT1c.1308A>G (p.Ala436=)
n.35A>G
n.47A>G
c.1149A>G (p.Ala383=)
c.1056A>G (p.Ala352=)
c.1065A>G (p.Ala355=)
c.1209A>G (p.Ala403=)
c.*918A>G (n.*918A>G)
c.1191A>G (p.Ala397=)
c.1251A>G (p.Ala417=)
n.1127A>G
c.1173A>G (p.Ala391=)
c.1443A>G (p.Ala481=)
c.1452A>G (p.Ala484=)
c.798A>G (p.Ala266=)
c.1242A>G (p.Ala414=)
9g.135765731A>TCA467698190KCNT1c.1308A>T (p.Ala436=)
n.35A>T
n.47A>T
c.1149A>T (p.Ala383=)
c.1056A>T (p.Ala352=)
c.1065A>T (p.Ala355=)
c.1209A>T (p.Ala403=)
c.*918A>T (n.*918A>T)
c.1191A>T (p.Ala397=)
c.1251A>T (p.Ala417=)
n.1127A>T
c.1173A>T (p.Ala391=)
c.1443A>T (p.Ala481=)
c.1452A>T (p.Ala484=)
c.798A>T (p.Ala266=)
c.1242A>T (p.Ala414=)
9g.135765732C>ACA375501710KCNT1c.1309C>A (p.Leu437Ile)
n.36C>A
n.48C>A
c.1150C>A (p.Leu384Ile)
c.1057C>A (p.Leu353Ile)
c.1066C>A (p.Leu356Ile)
c.1210C>A (p.Leu404Ile)
c.*919C>A (n.*919C>A)
c.1192C>A (p.Leu398Ile)
c.1252C>A (p.Leu418Ile)
n.1128C>A
c.1174C>A (p.Leu392Ile)
c.1444C>A (p.Leu482Ile)
c.1453C>A (p.Leu485Ile)
c.799C>A (p.Leu267Ile)
c.1243C>A (p.Leu415Ile)
 ClinVar dbSNP gnomAD v4
9g.135765732C=CA1883866697KCNT1c.1309C= (p.Leu437=)
n.36C=
n.48C=
c.1150C= (p.Leu384=)
c.1057C= (p.Leu353=)
c.1066C= (p.Leu356=)
c.1210C= (p.Leu404=)
c.*919C= (n.*919C=)
c.1192C= (p.Leu398=)
c.1252C= (p.Leu418=)
n.1128C=
c.1174C= (p.Leu392=)
c.1444C= (p.Leu482=)
c.1453C= (p.Leu485=)
c.799C= (p.Leu267=)
c.1243C= (p.Leu415=)
9g.135765732C>GCA375501713KCNT1c.1309C>G (p.Leu437Val)
n.36C>G
n.48C>G
c.1150C>G (p.Leu384Val)
c.1057C>G (p.Leu353Val)
c.1066C>G (p.Leu356Val)
c.1210C>G (p.Leu404Val)
c.*919C>G (n.*919C>G)
c.1192C>G (p.Leu398Val)
c.1252C>G (p.Leu418Val)
n.1128C>G
c.1174C>G (p.Leu392Val)
c.1444C>G (p.Leu482Val)
c.1453C>G (p.Leu485Val)
c.799C>G (p.Leu267Val)
c.1243C>G (p.Leu415Val)
9g.135765732C>TCA16042762KCNT1c.1309C>T (p.Leu437Phe)
n.36C>T
n.48C>T
c.1150C>T (p.Leu384Phe)
c.1057C>T (p.Leu353Phe)
c.1066C>T (p.Leu356Phe)
c.1210C>T (p.Leu404Phe)
c.*919C>T (n.*919C>T)
c.1192C>T (p.Leu398Phe)
c.1252C>T (p.Leu418Phe)
n.1128C>T
c.1174C>T (p.Leu392Phe)
c.1444C>T (p.Leu482Phe)
c.1453C>T (p.Leu485Phe)
c.799C>T (p.Leu267Phe)
c.1243C>T (p.Leu415Phe)
 ClinVar dbSNP
9g.135765733T>ACA375501718KCNT1c.1310T>A (p.Leu437His)
n.37T>A
n.49T>A
c.1151T>A (p.Leu384His)
c.1058T>A (p.Leu353His)
c.1067T>A (p.Leu356His)
c.1211T>A (p.Leu404His)
c.*920T>A (n.*920T>A)
c.1193T>A (p.Leu398His)
c.1253T>A (p.Leu418His)
n.1129T>A
c.1175T>A (p.Leu392His)
c.1445T>A (p.Leu482His)
c.1454T>A (p.Leu485His)
c.800T>A (p.Leu267His)
c.1244T>A (p.Leu415His)
9g.135765733T>CCA201465715KCNT1c.1310T>C (p.Leu437Pro)
n.37T>C
n.49T>C
c.1151T>C (p.Leu384Pro)
c.1058T>C (p.Leu353Pro)
c.1067T>C (p.Leu356Pro)
c.1211T>C (p.Leu404Pro)
c.*920T>C (n.*920T>C)
c.1193T>C (p.Leu398Pro)
c.1253T>C (p.Leu418Pro)
n.1129T>C
c.1175T>C (p.Leu392Pro)
c.1445T>C (p.Leu482Pro)
c.1454T>C (p.Leu485Pro)
c.800T>C (p.Leu267Pro)
c.1244T>C (p.Leu415Pro)
 dbSNP
9g.135765733T>GCA375501722KCNT1c.1310T>G (p.Leu437Arg)
n.37T>G
n.49T>G
c.1151T>G (p.Leu384Arg)
c.1058T>G (p.Leu353Arg)
c.1067T>G (p.Leu356Arg)
c.1211T>G (p.Leu404Arg)
c.*920T>G (n.*920T>G)
c.1193T>G (p.Leu398Arg)
c.1253T>G (p.Leu418Arg)
n.1129T>G
c.1175T>G (p.Leu392Arg)
c.1445T>G (p.Leu482Arg)
c.1454T>G (p.Leu485Arg)
c.800T>G (p.Leu267Arg)
c.1244T>G (p.Leu415Arg)
9g.135765733T=CA1883866698KCNT1c.1310T= (p.Leu437=)
n.37T=
n.49T=
c.1151T= (p.Leu384=)
c.1058T= (p.Leu353=)
c.1067T= (p.Leu356=)
c.1211T= (p.Leu404=)
c.*920T= (n.*920T=)
c.1193T= (p.Leu398=)
c.1253T= (p.Leu418=)
n.1129T=
c.1175T= (p.Leu392=)
c.1445T= (p.Leu482=)
c.1454T= (p.Leu485=)
c.800T= (p.Leu267=)
c.1244T= (p.Leu415=)
9g.135765734C>ACA467698191KCNT1c.1311C>A (p.Leu437=)
c.1C>A
n.38C>A
n.50C>A
c.1152C>A (p.Leu384=)
c.1059C>A (p.Leu353=)
c.1068C>A (p.Leu356=)
c.1212C>A (p.Leu404=)
c.*921C>A (n.*921C>A)
c.1194C>A (p.Leu398=)
c.1254C>A (p.Leu418=)
n.1130C>A
c.1176C>A (p.Leu392=)
c.1446C>A (p.Leu482=)
c.1455C>A (p.Leu485=)
c.801C>A (p.Leu267=)
c.1245C>A (p.Leu415=)
 gnomAD v4
9g.135765734C=CA1883866699KCNT1c.1311C= (p.Leu437=)
c.1C=
n.38C=
n.50C=
c.1152C= (p.Leu384=)
c.1059C= (p.Leu353=)
c.1068C= (p.Leu356=)
c.1212C= (p.Leu404=)
c.*921C= (n.*921C=)
c.1194C= (p.Leu398=)
c.1254C= (p.Leu418=)
n.1130C=
c.1176C= (p.Leu392=)
c.1446C= (p.Leu482=)
c.1455C= (p.Leu485=)
c.801C= (p.Leu267=)
c.1245C= (p.Leu415=)
9g.135765734C>GCA467698192KCNT1c.1311C>G (p.Leu437=)
c.1C>G
n.38C>G
n.50C>G
c.1152C>G (p.Leu384=)
c.1059C>G (p.Leu353=)
c.1068C>G (p.Leu356=)
c.1212C>G (p.Leu404=)
c.*921C>G (n.*921C>G)
c.1194C>G (p.Leu398=)
c.1254C>G (p.Leu418=)
n.1130C>G
c.1176C>G (p.Leu392=)
c.1446C>G (p.Leu482=)
c.1455C>G (p.Leu485=)
c.801C>G (p.Leu267=)
c.1245C>G (p.Leu415=)
 ClinVar dbSNP
9g.135765734C>TCA5326841KCNT1c.1311C>T (p.Leu437=)
c.1C>T
n.38C>T
n.50C>T
c.1152C>T (p.Leu384=)
c.1059C>T (p.Leu353=)
c.1068C>T (p.Leu356=)
c.1212C>T (p.Leu404=)
c.*921C>T (n.*921C>T)
c.1194C>T (p.Leu398=)
c.1254C>T (p.Leu418=)
n.1130C>T
c.1176C>T (p.Leu392=)
c.1446C>T (p.Leu482=)
c.1455C>T (p.Leu485=)
c.801C>T (p.Leu267=)
c.1245C>T (p.Leu415=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135765735A>CCA375501728KCNT1c.1312A>C (p.Lys438Gln)
c.2A>C
n.39A>C
n.51A>C
c.1153A>C (p.Lys385Gln)
c.1060A>C (p.Lys354Gln)
c.1069A>C (p.Lys357Gln)
c.1213A>C (p.Lys405Gln)
c.*922A>C (n.*922A>C)
c.1195A>C (p.Lys399Gln)
c.1255A>C (p.Lys419Gln)
n.1131A>C
c.1177A>C (p.Lys393Gln)
c.1447A>C (p.Lys483Gln)
c.1456A>C (p.Lys486Gln)
c.802A>C (p.Lys268Gln)
c.1246A>C (p.Lys416Gln)
9g.135765735A>GCA375501729KCNT1c.1312A>G (p.Lys438Glu)
c.2A>G
n.39A>G
n.51A>G
c.1153A>G (p.Lys385Glu)
c.1060A>G (p.Lys354Glu)
c.1069A>G (p.Lys357Glu)
c.1213A>G (p.Lys405Glu)
c.*922A>G (n.*922A>G)
c.1195A>G (p.Lys399Glu)
c.1255A>G (p.Lys419Glu)
n.1131A>G
c.1177A>G (p.Lys393Glu)
c.1447A>G (p.Lys483Glu)
c.1456A>G (p.Lys486Glu)
c.802A>G (p.Lys268Glu)
c.1246A>G (p.Lys416Glu)
9g.135765735A>TCA375501732KCNT1c.1312A>T (p.Lys438Ter)
c.2A>T
n.39A>T
n.51A>T
c.1153A>T (p.Lys385Ter)
c.1060A>T (p.Lys354Ter)
c.1069A>T (p.Lys357Ter)
c.1213A>T (p.Lys405Ter)
c.*922A>T (n.*922A>T)
c.1195A>T (p.Lys399Ter)
c.1255A>T (p.Lys419Ter)
n.1131A>T
c.1177A>T (p.Lys393Ter)
c.1447A>T (p.Lys483Ter)
c.1456A>T (p.Lys486Ter)
c.802A>T (p.Lys268Ter)
c.1246A>T (p.Lys416Ter)
9g.135765735_135765736insTACA591144186KCNT1c.1312_1313insTA (p.Lys438IlefsTer?)
c.2_3insTA
n.39_40insTA
n.51_52insTA
c.1153_1154insTA (p.Lys385IlefsTer?)
c.1060_1061insTA (p.Lys354IlefsTer?)
c.1069_1070insTA (p.Lys357IlefsTer?)
c.1213_1214insTA (p.Lys405IlefsTer?)
c.*922_*923insTA (n.*922_*923insTA)
c.1195_1196insTA (p.Lys399IlefsTer?)
c.1255_1256insTA (p.Lys419IlefsTer?)
n.1131_1132insTA
c.1177_1178insTA (p.Lys393IlefsTer?)
c.1447_1448insTA (p.Lys483IlefsTer?)
c.1456_1457insTA (p.Lys486IlefsTer?)
c.802_803insTA (p.Lys268IlefsTer?)
c.1246_1247insTA (p.Lys416IlefsTer?)
 dbSNP gnomAD v2 gnomAD v4
9g.135765737dupCA591144187KCNT1c.1314dup (p.Asp439ArgfsTer?)
c.4dup
n.41dup
n.53dup
c.1155dup (p.Asp386ArgfsTer?)
c.1062dup (p.Asp355ArgfsTer?)
c.1071dup (p.Asp358ArgfsTer?)
c.1215dup (p.Asp406ArgfsTer?)
c.*924dup (n.*924dup)
c.1197dup (p.Asp400ArgfsTer?)
c.1257dup (p.Asp420ArgfsTer?)
n.1133dup
c.1179dup (p.Asp394ArgfsTer?)
c.1449dup (p.Asp484ArgfsTer?)
c.1458dup (p.Asp487ArgfsTer?)
c.804dup (p.Asp269ArgfsTer?)
c.1248dup (p.Asp417ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
9g.135765736A=CA1883866700KCNT1c.1313A= (p.Lys438=)
c.3A=
n.40A=
n.52A=
c.1154A= (p.Lys385=)
c.1061A= (p.Lys354=)
c.1070A= (p.Lys357=)
c.1214A= (p.Lys405=)
c.*923A= (n.*923A=)
c.1196A= (p.Lys399=)
c.1256A= (p.Lys419=)
n.1132A=
c.1178A= (p.Lys393=)
c.1448A= (p.Lys483=)
c.1457A= (p.Lys486=)
c.803A= (p.Lys268=)
c.1247A= (p.Lys416=)
9g.135765736A>CCA375501740KCNT1c.1313A>C (p.Lys438Thr)
c.3A>C
n.40A>C
n.52A>C
c.1154A>C (p.Lys385Thr)
c.1061A>C (p.Lys354Thr)
c.1070A>C (p.Lys357Thr)
c.1214A>C (p.Lys405Thr)
c.*923A>C (n.*923A>C)
c.1196A>C (p.Lys399Thr)
c.1256A>C (p.Lys419Thr)
n.1132A>C
c.1178A>C (p.Lys393Thr)
c.1448A>C (p.Lys483Thr)
c.1457A>C (p.Lys486Thr)
c.803A>C (p.Lys268Thr)
c.1247A>C (p.Lys416Thr)
9g.135765736A>GCA201465723KCNT1c.1313A>G (p.Lys438Arg)
c.3A>G
n.40A>G
n.52A>G
c.1154A>G (p.Lys385Arg)
c.1061A>G (p.Lys354Arg)
c.1070A>G (p.Lys357Arg)
c.1214A>G (p.Lys405Arg)
c.*923A>G (n.*923A>G)
c.1196A>G (p.Lys399Arg)
c.1256A>G (p.Lys419Arg)
n.1132A>G
c.1178A>G (p.Lys393Arg)
c.1448A>G (p.Lys483Arg)
c.1457A>G (p.Lys486Arg)
c.803A>G (p.Lys268Arg)
c.1247A>G (p.Lys416Arg)
 dbSNP gnomAD v3 gnomAD v4
9g.135765736A>TCA375501735KCNT1c.1313A>T (p.Lys438Ile)
c.3A>T
n.40A>T
n.52A>T
c.1154A>T (p.Lys385Ile)
c.1061A>T (p.Lys354Ile)
c.1070A>T (p.Lys357Ile)
c.1214A>T (p.Lys405Ile)
c.*923A>T (n.*923A>T)
c.1196A>T (p.Lys399Ile)
c.1256A>T (p.Lys419Ile)
n.1132A>T
c.1178A>T (p.Lys393Ile)
c.1448A>T (p.Lys483Ile)
c.1457A>T (p.Lys486Ile)
c.803A>T (p.Lys268Ile)
c.1247A>T (p.Lys416Ile)
9g.135765737A>CCA375501743KCNT1c.1314A>C (p.Lys438Asn)
c.4A>C
n.41A>C
n.53A>C
c.1155A>C (p.Lys385Asn)
c.1062A>C (p.Lys354Asn)
c.1071A>C (p.Lys357Asn)
c.1215A>C (p.Lys405Asn)
c.*924A>C (n.*924A>C)
c.1197A>C (p.Lys399Asn)
c.1257A>C (p.Lys419Asn)
n.1133A>C
c.1179A>C (p.Lys393Asn)
c.1449A>C (p.Lys483Asn)
c.1458A>C (p.Lys486Asn)
c.804A>C (p.Lys268Asn)
c.1248A>C (p.Lys416Asn)
9g.135765737A>GCA467698193KCNT1c.1314A>G (p.Lys438=)
c.4A>G
n.41A>G
n.53A>G
c.1155A>G (p.Lys385=)
c.1062A>G (p.Lys354=)
c.1071A>G (p.Lys357=)
c.1215A>G (p.Lys405=)
c.*924A>G (n.*924A>G)
c.1197A>G (p.Lys399=)
c.1257A>G (p.Lys419=)
n.1133A>G
c.1179A>G (p.Lys393=)
c.1449A>G (p.Lys483=)
c.1458A>G (p.Lys486=)
c.804A>G (p.Lys268=)
c.1248A>G (p.Lys416=)
9g.135765737A>TCA375501746KCNT1c.1314A>T (p.Lys438Asn)
c.4A>T
n.41A>T
n.53A>T
c.1155A>T (p.Lys385Asn)
c.1062A>T (p.Lys354Asn)
c.1071A>T (p.Lys357Asn)
c.1215A>T (p.Lys405Asn)
c.*924A>T (n.*924A>T)
c.1197A>T (p.Lys399Asn)
c.1257A>T (p.Lys419Asn)
n.1133A>T
c.1179A>T (p.Lys393Asn)
c.1449A>T (p.Lys483Asn)
c.1458A>T (p.Lys486Asn)
c.804A>T (p.Lys268Asn)
c.1248A>T (p.Lys416Asn)
9g.135765738G>ACA375501754KCNT1c.1315G>A (p.Asp439Asn)
c.5G>A
n.42G>A
n.54G>A
c.1156G>A (p.Asp386Asn)
c.1063G>A (p.Asp355Asn)
c.1072G>A (p.Asp358Asn)
c.1216G>A (p.Asp406Asn)
c.*925G>A (n.*925G>A)
c.1198G>A (p.Asp400Asn)
c.1258G>A (p.Asp420Asn)
n.1134G>A
c.1180G>A (p.Asp394Asn)
c.1450G>A (p.Asp484Asn)
c.1459G>A (p.Asp487Asn)
c.805G>A (p.Asp269Asn)
c.1249G>A (p.Asp417Asn)
9g.135765738G>CCA375501756KCNT1c.1315G>C (p.Asp439His)
c.5G>C
n.42G>C
n.54G>C
c.1156G>C (p.Asp386His)
c.1063G>C (p.Asp355His)
c.1072G>C (p.Asp358His)
c.1216G>C (p.Asp406His)
c.*925G>C (n.*925G>C)
c.1198G>C (p.Asp400His)
c.1258G>C (p.Asp420His)
n.1134G>C
c.1180G>C (p.Asp394His)
c.1450G>C (p.Asp484His)
c.1459G>C (p.Asp487His)
c.805G>C (p.Asp269His)
c.1249G>C (p.Asp417His)
9g.135765738G>TCA375501759KCNT1c.1315G>T (p.Asp439Tyr)
c.5G>T
n.42G>T
n.54G>T
c.1156G>T (p.Asp386Tyr)
c.1063G>T (p.Asp355Tyr)
c.1072G>T (p.Asp358Tyr)
c.1216G>T (p.Asp406Tyr)
c.*925G>T (n.*925G>T)
c.1198G>T (p.Asp400Tyr)
c.1258G>T (p.Asp420Tyr)
n.1134G>T
c.1180G>T (p.Asp394Tyr)
c.1450G>T (p.Asp484Tyr)
c.1459G>T (p.Asp487Tyr)
c.805G>T (p.Asp269Tyr)
c.1249G>T (p.Asp417Tyr)
9g.135765739A>CCA375501762KCNT1c.1316A>C (p.Asp439Ala)
c.6A>C
n.43A>C
n.55A>C
c.1157A>C (p.Asp386Ala)
c.1064A>C (p.Asp355Ala)
c.1073A>C (p.Asp358Ala)
c.1217A>C (p.Asp406Ala)
c.*926A>C (n.*926A>C)
c.1199A>C (p.Asp400Ala)
c.1259A>C (p.Asp420Ala)
n.1135A>C
c.1181A>C (p.Asp394Ala)
c.1451A>C (p.Asp484Ala)
c.1460A>C (p.Asp487Ala)
c.806A>C (p.Asp269Ala)
c.1250A>C (p.Asp417Ala)
 gnomAD v4
9g.135765739A>GCA375501765KCNT1c.1316A>G (p.Asp439Gly)
c.6A>G
n.43A>G
n.55A>G
c.1157A>G (p.Asp386Gly)
c.1064A>G (p.Asp355Gly)
c.1073A>G (p.Asp358Gly)
c.1217A>G (p.Asp406Gly)
c.*926A>G (n.*926A>G)
c.1199A>G (p.Asp400Gly)
c.1259A>G (p.Asp420Gly)
n.1135A>G
c.1181A>G (p.Asp394Gly)
c.1451A>G (p.Asp484Gly)
c.1460A>G (p.Asp487Gly)
c.806A>G (p.Asp269Gly)
c.1250A>G (p.Asp417Gly)
9g.135765739A>TCA375501767KCNT1c.1316A>T (p.Asp439Val)
c.6A>T
n.43A>T
n.55A>T
c.1157A>T (p.Asp386Val)
c.1064A>T (p.Asp355Val)
c.1073A>T (p.Asp358Val)
c.1217A>T (p.Asp406Val)
c.*926A>T (n.*926A>T)
c.1199A>T (p.Asp400Val)
c.1259A>T (p.Asp420Val)
n.1135A>T
c.1181A>T (p.Asp394Val)
c.1451A>T (p.Asp484Val)
c.1460A>T (p.Asp487Val)
c.806A>T (p.Asp269Val)
c.1250A>T (p.Asp417Val)
9g.135765740C>ACA375501771KCNT1c.1317C>A (p.Asp439Glu)
c.7C>A
n.44C>A
n.56C>A
c.1158C>A (p.Asp386Glu)
c.1065C>A (p.Asp355Glu)
c.1074C>A (p.Asp358Glu)
c.1218C>A (p.Asp406Glu)
c.*927C>A (n.*927C>A)
c.1200C>A (p.Asp400Glu)
c.1260C>A (p.Asp420Glu)
n.1136C>A
c.1182C>A (p.Asp394Glu)
c.1452C>A (p.Asp484Glu)
c.1461C>A (p.Asp487Glu)
c.807C>A (p.Asp269Glu)
c.1251C>A (p.Asp417Glu)
 gnomAD v4
9g.135765740C>GCA375501774KCNT1c.1317C>G (p.Asp439Glu)
c.7C>G
n.44C>G
n.56C>G
c.1158C>G (p.Asp386Glu)
c.1065C>G (p.Asp355Glu)
c.1074C>G (p.Asp358Glu)
c.1218C>G (p.Asp406Glu)
c.*927C>G (n.*927C>G)
c.1200C>G (p.Asp400Glu)
c.1260C>G (p.Asp420Glu)
n.1136C>G
c.1182C>G (p.Asp394Glu)
c.1452C>G (p.Asp484Glu)
c.1461C>G (p.Asp487Glu)
c.807C>G (p.Asp269Glu)
c.1251C>G (p.Asp417Glu)
 gnomAD v4
9g.135765740C>TCA467698194KCNT1c.1317C>T (p.Asp439=)
c.7C>T
n.44C>T
n.56C>T
c.1158C>T (p.Asp386=)
c.1065C>T (p.Asp355=)
c.1074C>T (p.Asp358=)
c.1218C>T (p.Asp406=)
c.*927C>T (n.*927C>T)
c.1200C>T (p.Asp400=)
c.1260C>T (p.Asp420=)
n.1136C>T
c.1182C>T (p.Asp394=)
c.1452C>T (p.Asp484=)
c.1461C>T (p.Asp487=)
c.807C>T (p.Asp269=)
c.1251C>T (p.Asp417=)
 ClinVar dbSNP
9g.135765741C>ACA375501778KCNT1c.1318C>A (p.Gln440Lys)
c.8C>A
n.45C>A
n.57C>A
c.1159C>A (p.Gln387Lys)
c.1066C>A (p.Gln356Lys)
c.1075C>A (p.Gln359Lys)
c.1219C>A (p.Gln407Lys)
c.*928C>A (n.*928C>A)
c.1201C>A (p.Gln401Lys)
c.1261C>A (p.Gln421Lys)
n.1137C>A
c.1183C>A (p.Gln395Lys)
c.1453C>A (p.Gln485Lys)
c.1462C>A (p.Gln488Lys)
c.808C>A (p.Gln270Lys)
c.1252C>A (p.Gln418Lys)
9g.135765741C>GCA375501781KCNT1c.1318C>G (p.Gln440Glu)
c.8C>G
n.45C>G
n.57C>G
c.1159C>G (p.Gln387Glu)
c.1066C>G (p.Gln356Glu)
c.1075C>G (p.Gln359Glu)
c.1219C>G (p.Gln407Glu)
c.*928C>G (n.*928C>G)
c.1201C>G (p.Gln401Glu)
c.1261C>G (p.Gln421Glu)
n.1137C>G
c.1183C>G (p.Gln395Glu)
c.1453C>G (p.Gln485Glu)
c.1462C>G (p.Gln488Glu)
c.808C>G (p.Gln270Glu)
c.1252C>G (p.Gln418Glu)
9g.135765741C>TCA375501783KCNT1c.1318C>T (p.Gln440Ter)
c.8C>T
n.45C>T
n.57C>T
c.1159C>T (p.Gln387Ter)
c.1066C>T (p.Gln356Ter)
c.1075C>T (p.Gln359Ter)
c.1219C>T (p.Gln407Ter)
c.*928C>T (n.*928C>T)
c.1201C>T (p.Gln401Ter)
c.1261C>T (p.Gln421Ter)
n.1137C>T
c.1183C>T (p.Gln395Ter)
c.1453C>T (p.Gln485Ter)
c.1462C>T (p.Gln488Ter)
c.808C>T (p.Gln270Ter)
c.1252C>T (p.Gln418Ter)
 gnomAD v4
9g.135765742A>CCA375501792KCNT1c.1319A>C (p.Gln440Pro)
c.9A>C
n.46A>C
n.58A>C
c.1160A>C (p.Gln387Pro)
c.1067A>C (p.Gln356Pro)
c.1076A>C (p.Gln359Pro)
c.1220A>C (p.Gln407Pro)
c.*929A>C (n.*929A>C)
c.1202A>C (p.Gln401Pro)
c.1262A>C (p.Gln421Pro)
n.1138A>C
c.1184A>C (p.Gln395Pro)
c.1454A>C (p.Gln485Pro)
c.1463A>C (p.Gln488Pro)
c.809A>C (p.Gln270Pro)
c.1253A>C (p.Gln418Pro)
9g.135765742A>GCA375501788KCNT1c.1319A>G (p.Gln440Arg)
c.9A>G
n.46A>G
n.58A>G
c.1160A>G (p.Gln387Arg)
c.1067A>G (p.Gln356Arg)
c.1076A>G (p.Gln359Arg)
c.1220A>G (p.Gln407Arg)
c.*929A>G (n.*929A>G)
c.1202A>G (p.Gln401Arg)
c.1262A>G (p.Gln421Arg)
n.1138A>G
c.1184A>G (p.Gln395Arg)
c.1454A>G (p.Gln485Arg)
c.1463A>G (p.Gln488Arg)
c.809A>G (p.Gln270Arg)
c.1253A>G (p.Gln418Arg)
 gnomAD v4
9g.135765742A>TCA375501786KCNT1c.1319A>T (p.Gln440Leu)
c.9A>T
n.46A>T
n.58A>T
c.1160A>T (p.Gln387Leu)
c.1067A>T (p.Gln356Leu)
c.1076A>T (p.Gln359Leu)
c.1220A>T (p.Gln407Leu)
c.*929A>T (n.*929A>T)
c.1202A>T (p.Gln401Leu)
c.1262A>T (p.Gln421Leu)
n.1138A>T
c.1184A>T (p.Gln395Leu)
c.1454A>T (p.Gln485Leu)
c.1463A>T (p.Gln488Leu)
c.809A>T (p.Gln270Leu)
c.1253A>T (p.Gln418Leu)
9g.135765743G>ACA467698195KCNT1c.1320G>A (p.Gln440=)
c.10G>A
n.47G>A
n.59G>A
c.1161G>A (p.Gln387=)
c.1068G>A (p.Gln356=)
c.1077G>A (p.Gln359=)
c.1221G>A (p.Gln407=)
c.*930G>A (n.*930G>A)
c.1203G>A (p.Gln401=)
c.1263G>A (p.Gln421=)
n.1139G>A
c.1185G>A (p.Gln395=)
c.1455G>A (p.Gln485=)
c.1464G>A (p.Gln488=)
c.810G>A (p.Gln270=)
c.1254G>A (p.Gln418=)
 COSMIC COSMIC
9g.135765743G>CCA375501795KCNT1c.1320G>C (p.Gln440His)
c.10G>C
n.47G>C
n.59G>C
c.1161G>C (p.Gln387His)
c.1068G>C (p.Gln356His)
c.1077G>C (p.Gln359His)
c.1221G>C (p.Gln407His)
c.*930G>C (n.*930G>C)
c.1203G>C (p.Gln401His)
c.1263G>C (p.Gln421His)
n.1139G>C
c.1185G>C (p.Gln395His)
c.1455G>C (p.Gln485His)
c.1464G>C (p.Gln488His)
c.810G>C (p.Gln270His)
c.1254G>C (p.Gln418His)
9g.135765743G>TCA375501798KCNT1c.1320G>T (p.Gln440His)
c.10G>T
n.47G>T
n.59G>T
c.1161G>T (p.Gln387His)
c.1068G>T (p.Gln356His)
c.1077G>T (p.Gln359His)
c.1221G>T (p.Gln407His)
c.*930G>T (n.*930G>T)
c.1203G>T (p.Gln401His)
c.1263G>T (p.Gln421His)
n.1139G>T
c.1185G>T (p.Gln395His)
c.1455G>T (p.Gln485His)
c.1464G>T (p.Gln488His)
c.810G>T (p.Gln270His)
c.1254G>T (p.Gln418His)
 gnomAD v4
9g.135765744G>ACA375501801KCNT1c.1321G>A (p.Asp441Asn)
c.11G>A
n.48G>A
n.60G>A
c.1162G>A (p.Asp388Asn)
c.1069G>A (p.Asp357Asn)
c.1078G>A (p.Asp360Asn)
c.1222G>A (p.Asp408Asn)
c.*931G>A (n.*931G>A)
c.1204G>A (p.Asp402Asn)
c.1264G>A (p.Asp422Asn)
n.1140G>A
c.1186G>A (p.Asp396Asn)
c.1456G>A (p.Asp486Asn)
c.1465G>A (p.Asp489Asn)
c.811G>A (p.Asp271Asn)
c.1255G>A (p.Asp419Asn)
9g.135765744G>CCA375501807KCNT1c.1321G>C (p.Asp441His)
c.11G>C
n.48G>C
n.60G>C
c.1162G>C (p.Asp388His)
c.1069G>C (p.Asp357His)
c.1078G>C (p.Asp360His)
c.1222G>C (p.Asp408His)
c.*931G>C (n.*931G>C)
c.1204G>C (p.Asp402His)
c.1264G>C (p.Asp422His)
n.1140G>C
c.1186G>C (p.Asp396His)
c.1456G>C (p.Asp486His)
c.1465G>C (p.Asp489His)
c.811G>C (p.Asp271His)
c.1255G>C (p.Asp419His)
 gnomAD v4
9g.135765744G>TCA375501804KCNT1c.1321G>T (p.Asp441Tyr)
c.11G>T
n.48G>T
n.60G>T
c.1162G>T (p.Asp388Tyr)
c.1069G>T (p.Asp357Tyr)
c.1078G>T (p.Asp360Tyr)
c.1222G>T (p.Asp408Tyr)
c.*931G>T (n.*931G>T)
c.1204G>T (p.Asp402Tyr)
c.1264G>T (p.Asp422Tyr)
n.1140G>T
c.1186G>T (p.Asp396Tyr)
c.1456G>T (p.Asp486Tyr)
c.1465G>T (p.Asp489Tyr)
c.811G>T (p.Asp271Tyr)
c.1255G>T (p.Asp419Tyr)
9g.135765745A>CCA375501810KCNT1c.1322A>C (p.Asp441Ala)
c.12A>C
n.49A>C
n.61A>C
c.1163A>C (p.Asp388Ala)
c.1070A>C (p.Asp357Ala)
c.1079A>C (p.Asp360Ala)
c.1223A>C (p.Asp408Ala)
c.*932A>C (n.*932A>C)
c.1205A>C (p.Asp402Ala)
c.1265A>C (p.Asp422Ala)
n.1141A>C
c.1187A>C (p.Asp396Ala)
c.1457A>C (p.Asp486Ala)
c.1466A>C (p.Asp489Ala)
c.812A>C (p.Asp271Ala)
c.1256A>C (p.Asp419Ala)
9g.135765745A>GCA375501812KCNT1c.1322A>G (p.Asp441Gly)
c.12A>G
n.49A>G
n.61A>G
c.1163A>G (p.Asp388Gly)
c.1070A>G (p.Asp357Gly)
c.1079A>G (p.Asp360Gly)
c.1223A>G (p.Asp408Gly)
c.*932A>G (n.*932A>G)
c.1205A>G (p.Asp402Gly)
c.1265A>G (p.Asp422Gly)
n.1141A>G
c.1187A>G (p.Asp396Gly)
c.1457A>G (p.Asp486Gly)
c.1466A>G (p.Asp489Gly)
c.812A>G (p.Asp271Gly)
c.1256A>G (p.Asp419Gly)
9g.135765745A>TCA375501815KCNT1c.1322A>T (p.Asp441Val)
c.12A>T
n.49A>T
n.61A>T
c.1163A>T (p.Asp388Val)
c.1070A>T (p.Asp357Val)
c.1079A>T (p.Asp360Val)
c.1223A>T (p.Asp408Val)
c.*932A>T (n.*932A>T)
c.1205A>T (p.Asp402Val)
c.1265A>T (p.Asp422Val)
n.1141A>T
c.1187A>T (p.Asp396Val)
c.1457A>T (p.Asp486Val)
c.1466A>T (p.Asp489Val)
c.812A>T (p.Asp271Val)
c.1256A>T (p.Asp419Val)
9g.135765746C>ACA5326843KCNT1c.1323C>A (p.Asp441Glu)
c.13C>A
n.50C>A
n.62C>A
c.1164C>A (p.Asp388Glu)
c.1071C>A (p.Asp357Glu)
c.1080C>A (p.Asp360Glu)
c.1224C>A (p.Asp408Glu)
c.*933C>A (n.*933C>A)
c.1206C>A (p.Asp402Glu)
c.1266C>A (p.Asp422Glu)
n.1142C>A
c.1188C>A (p.Asp396Glu)
c.1458C>A (p.Asp486Glu)
c.1467C>A (p.Asp489Glu)
c.813C>A (p.Asp271Glu)
c.1257C>A (p.Asp419Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135765746C=CA1883866701KCNT1c.1323C= (p.Asp441=)
c.13C=
n.50C=
n.62C=
c.1164C= (p.Asp388=)
c.1071C= (p.Asp357=)
c.1080C= (p.Asp360=)
c.1224C= (p.Asp408=)
c.*933C= (n.*933C=)
c.1206C= (p.Asp402=)
c.1266C= (p.Asp422=)
n.1142C=
c.1188C= (p.Asp396=)
c.1458C= (p.Asp486=)
c.1467C= (p.Asp489=)
c.813C= (p.Asp271=)
c.1257C= (p.Asp419=)
9g.135765746C>GCA375501819KCNT1c.1323C>G (p.Asp441Glu)
c.13C>G
n.50C>G
n.62C>G
c.1164C>G (p.Asp388Glu)
c.1071C>G (p.Asp357Glu)
c.1080C>G (p.Asp360Glu)
c.1224C>G (p.Asp408Glu)
c.*933C>G (n.*933C>G)
c.1206C>G (p.Asp402Glu)
c.1266C>G (p.Asp422Glu)
n.1142C>G
c.1188C>G (p.Asp396Glu)
c.1458C>G (p.Asp486Glu)
c.1467C>G (p.Asp489Glu)
c.813C>G (p.Asp271Glu)
c.1257C>G (p.Asp419Glu)
9g.135765746C>TCA5326842KCNT1c.1323C>T (p.Asp441=)
c.13C>T
n.50C>T
n.62C>T
c.1164C>T (p.Asp388=)
c.1071C>T (p.Asp357=)
c.1080C>T (p.Asp360=)
c.1224C>T (p.Asp408=)
c.*933C>T (n.*933C>T)
c.1206C>T (p.Asp402=)
c.1266C>T (p.Asp422=)
n.1142C>T
c.1188C>T (p.Asp396=)
c.1458C>T (p.Asp486=)
c.1467C>T (p.Asp489=)
c.813C>T (p.Asp271=)
c.1257C>T (p.Asp419=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135765747C>ACA375501824KCNT1c.1324C>A (p.Leu442Ile)
c.14C>A
n.51C>A
n.63C>A
c.1165C>A (p.Leu389Ile)
c.1072C>A (p.Leu358Ile)
c.1081C>A (p.Leu361Ile)
c.1225C>A (p.Leu409Ile)
c.*934C>A (n.*934C>A)
c.1207C>A (p.Leu403Ile)
c.1267C>A (p.Leu423Ile)
n.1143C>A
c.1189C>A (p.Leu397Ile)
c.1459C>A (p.Leu487Ile)
c.1468C>A (p.Leu490Ile)
c.814C>A (p.Leu272Ile)
c.1258C>A (p.Leu420Ile)
 gnomAD v4
9g.135765747C>GCA375501826KCNT1c.1324C>G (p.Leu442Val)
c.14C>G
n.51C>G
n.63C>G
c.1165C>G (p.Leu389Val)
c.1072C>G (p.Leu358Val)
c.1081C>G (p.Leu361Val)
c.1225C>G (p.Leu409Val)
c.*934C>G (n.*934C>G)
c.1207C>G (p.Leu403Val)
c.1267C>G (p.Leu423Val)
n.1143C>G
c.1189C>G (p.Leu397Val)
c.1459C>G (p.Leu487Val)
c.1468C>G (p.Leu490Val)
c.814C>G (p.Leu272Val)
c.1258C>G (p.Leu420Val)
9g.135765747C>TCA375501829KCNT1c.1324C>T (p.Leu442Phe)
c.14C>T
n.51C>T
n.63C>T
c.1165C>T (p.Leu389Phe)
c.1072C>T (p.Leu358Phe)
c.1081C>T (p.Leu361Phe)
c.1225C>T (p.Leu409Phe)
c.*934C>T (n.*934C>T)
c.1207C>T (p.Leu403Phe)
c.1267C>T (p.Leu423Phe)
n.1143C>T
c.1189C>T (p.Leu397Phe)
c.1459C>T (p.Leu487Phe)
c.1468C>T (p.Leu490Phe)
c.814C>T (p.Leu272Phe)
c.1258C>T (p.Leu420Phe)
9g.135765748T>ACA375501832KCNT1c.1325T>A (p.Leu442His)
c.15T>A
n.52T>A
n.64T>A
c.1166T>A (p.Leu389His)
c.1073T>A (p.Leu358His)
c.1082T>A (p.Leu361His)
c.1226T>A (p.Leu409His)
c.*935T>A (n.*935T>A)
c.1208T>A (p.Leu403His)
c.1268T>A (p.Leu423His)
n.1144T>A
c.1190T>A (p.Leu397His)
c.1460T>A (p.Leu487His)
c.1469T>A (p.Leu490His)
c.815T>A (p.Leu272His)
c.1259T>A (p.Leu420His)
9g.135765748T>CCA375501837KCNT1c.1325T>C (p.Leu442Pro)
c.15T>C
n.52T>C
n.64T>C
c.1166T>C (p.Leu389Pro)
c.1073T>C (p.Leu358Pro)
c.1082T>C (p.Leu361Pro)
c.1226T>C (p.Leu409Pro)
c.*935T>C (n.*935T>C)
c.1208T>C (p.Leu403Pro)
c.1268T>C (p.Leu423Pro)
n.1144T>C
c.1190T>C (p.Leu397Pro)
c.1460T>C (p.Leu487Pro)
c.1469T>C (p.Leu490Pro)
c.815T>C (p.Leu272Pro)
c.1259T>C (p.Leu420Pro)
 gnomAD v4
9g.135765748T>GCA375501844KCNT1c.1325T>G (p.Leu442Arg)
c.15T>G
n.52T>G
n.64T>G
c.1166T>G (p.Leu389Arg)
c.1073T>G (p.Leu358Arg)
c.1082T>G (p.Leu361Arg)
c.1226T>G (p.Leu409Arg)
c.*935T>G (n.*935T>G)
c.1208T>G (p.Leu403Arg)
c.1268T>G (p.Leu423Arg)
n.1144T>G
c.1190T>G (p.Leu397Arg)
c.1460T>G (p.Leu487Arg)
c.1469T>G (p.Leu490Arg)
c.815T>G (p.Leu272Arg)
c.1259T>G (p.Leu420Arg)
9g.135765749C>ACA5326844KCNT1c.1326C>A (p.Leu442=)
c.16C>A
n.53C>A
n.65C>A
c.1167C>A (p.Leu389=)
c.1074C>A (p.Leu358=)
c.1083C>A (p.Leu361=)
c.1227C>A (p.Leu409=)
c.*936C>A (n.*936C>A)
c.1209C>A (p.Leu403=)
c.1269C>A (p.Leu423=)
n.1145C>A
c.1191C>A (p.Leu397=)
c.1461C>A (p.Leu487=)
c.1470C>A (p.Leu490=)
c.816C>A (p.Leu272=)
c.1260C>A (p.Leu420=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135765749C=CA1883866702KCNT1c.1326C= (p.Leu442=)
c.16C=
n.53C=
n.65C=
c.1167C= (p.Leu389=)
c.1074C= (p.Leu358=)
c.1083C= (p.Leu361=)
c.1227C= (p.Leu409=)
c.*936C= (n.*936C=)
c.1209C= (p.Leu403=)
c.1269C= (p.Leu423=)
n.1145C=
c.1191C= (p.Leu397=)
c.1461C= (p.Leu487=)
c.1470C= (p.Leu490=)
c.816C= (p.Leu272=)
c.1260C= (p.Leu420=)
9g.135765749C>GCA467698197KCNT1c.1326C>G (p.Leu442=)
c.16C>G
n.53C>G
n.65C>G
c.1167C>G (p.Leu389=)
c.1074C>G (p.Leu358=)
c.1083C>G (p.Leu361=)
c.1227C>G (p.Leu409=)
c.*936C>G (n.*936C>G)
c.1209C>G (p.Leu403=)
c.1269C>G (p.Leu423=)
n.1145C>G
c.1191C>G (p.Leu397=)
c.1461C>G (p.Leu487=)
c.1470C>G (p.Leu490=)
c.816C>G (p.Leu272=)
c.1260C>G (p.Leu420=)
9g.135765749C>TCA467698196KCNT1c.1326C>T (p.Leu442=)
c.16C>T
n.53C>T
n.65C>T
c.1167C>T (p.Leu389=)
c.1074C>T (p.Leu358=)
c.1083C>T (p.Leu361=)
c.1227C>T (p.Leu409=)
c.*936C>T (n.*936C>T)
c.1209C>T (p.Leu403=)
c.1269C>T (p.Leu423=)
n.1145C>T
c.1191C>T (p.Leu397=)
c.1461C>T (p.Leu487=)
c.1470C>T (p.Leu490=)
c.816C>T (p.Leu272=)
c.1260C>T (p.Leu420=)
 ClinVar dbSNP
9g.135765749_135765750delinsATCA658797372KCNT1c.1326_1327delinsAT (p.Met443Leu)
c.16_17delinsAT
n.53_54delinsAT
n.65_66delinsAT
c.1167_1168delinsAT (p.Met390Leu)
c.1074_1075delinsAT (p.Met359Leu)
c.1083_1084delinsAT (p.Met362Leu)
c.1227_1228delinsAT (p.Met410Leu)
c.*936_*937delinsAT (n.*936_*937delinsAT)
c.1209_1210delinsAT (p.Met404Leu)
c.1269_1270delinsAT (p.Met424Leu)
n.1145_1146delinsAT
c.1191_1192delinsAT (p.Met398Leu)
c.1461_1462delinsAT (p.Met488Leu)
c.1470_1471delinsAT (p.Met491Leu)
c.816_817delinsAT (p.Met273Leu)
c.1260_1261delinsAT (p.Met421Leu)
 ClinVar dbSNP
9g.135765749_135765750delinsCACA1883866703KCNT1c.1326_1327delinsCA (p.Leu442=)
c.16_17delinsCA
n.53_54delinsCA
n.65_66delinsCA
c.1167_1168delinsCA (p.Leu389=)
c.1074_1075delinsCA (p.Leu358=)
c.1083_1084delinsCA (p.Leu361=)
c.1227_1228delinsCA (p.Leu409=)
c.*936_*937delinsCA (n.*936_*937delinsCA)
c.1209_1210delinsCA (p.Leu403=)
c.1269_1270delinsCA (p.Leu423=)
n.1145_1146delinsCA
c.1191_1192delinsCA (p.Leu397=)
c.1461_1462delinsCA (p.Leu487=)
c.1470_1471delinsCA (p.Leu490=)
c.816_817delinsCA (p.Leu272=)
c.1260_1261delinsCA (p.Leu420=)

Number of alleles fetched