Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.135765664T>A | CA375501291 | KCNT1 | c.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) | |
9 | g.135765664T>C | CA375501293 | KCNT1 | c.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) | |
9 | g.135765664T>G | CA375501296 | KCNT1 | c.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) | |
9 | g.135765665C>A | CA467698142 | KCNT1 | c.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=) | |
9 | g.135765665C>G | CA467698143 | KCNT1 | c.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=) | |
9 | g.135765665C>T | CA467698144 | KCNT1 | c.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=) | |
9 | g.135765666C>A | CA375501300 | KCNT1 | c.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) | |
9 | g.135765666C>G | CA375501304 | KCNT1 | c.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) | |
9 | g.135765666C>T | CA375501306 | KCNT1 | c.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) | |
9 | g.135765667A>C | CA375501313 | KCNT1 | c.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) | |
9 | g.135765667A>G | CA375501309 | KCNT1 | c.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) | |
9 | g.135765667A>T | CA375501311 | KCNT1 | c.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 |
9 | g.135765668G>A | CA467698145 | KCNT1 | c.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=) | |
9 | g.135765668G>C | CA375501316 | KCNT1 | c.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 |
9 | g.135765668G>T | CA375501319 | KCNT1 | c.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) | |
9 | g.135765669del | CA2579510819 | KCNT1 | c.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?) | |
9 | g.135765669G>A | CA375501323 | KCNT1 | c.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 |
9 | g.135765669G>C | CA375501324 | KCNT1 | c.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) | |
9 | g.135765669G>T | CA375501331 | KCNT1 | c.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) | |
9 | g.135765670T>A | CA375501332 | KCNT1 | c.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) | |
9 | g.135765670T>C | CA375501335 | KCNT1 | c.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) | |
9 | g.135765670T>G | CA375501338 | KCNT1 | c.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) | |
9 | g.135765671del | CA2692516594 | KCNT1 | c.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 |
9 | g.135765671G>A | CA5326833 | KCNT1 | c.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 |
9 | g.135765671G>C | CA467698146 | KCNT1 | c.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=) | |
9 | g.135765671G= | CA1883866676 | KCNT1 | c.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=) | |
9 | g.135765671G>T | CA467698147 | KCNT1 | c.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=) | |
9 | g.135765672C>A | CA375501342 | KCNT1 | c.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) | |
9 | g.135765672C= | CA1883866677 | KCNT1 | c.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=) | |
9 | g.135765672C>G | CA375501345 | KCNT1 | c.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 |
9 | g.135765672C>T | CA5326834 | KCNT1 | c.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 |
9 | g.135765673G>A | CA5326835 | KCNT1 | c.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 |
9 | g.135765673G>C | CA375501356 | KCNT1 | c.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) | |
9 | g.135765673G= | CA1883866678 | KCNT1 | c.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=) | |
9 | g.135765673G>T | CA5326836 | KCNT1 | c.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 |
9 | g.135765674C>A | CA467698148 | KCNT1 | c.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=) | |
9 | g.135765674C= | CA1883866679 | KCNT1 | c.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=) | |
9 | g.135765674C>G | CA467698150 | KCNT1 | c.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 |
9 | g.135765674C>T | CA467698149 | KCNT1 | c.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 |
9 | g.135765675A>C | CA467698151 | KCNT1 | c.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=) | |
9 | g.135765675A>G | CA375501359 | KCNT1 | c.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) | |
9 | g.135765675A>T | CA375501361 | KCNT1 | c.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) | |
9 | g.135765676_135765687dup | CA860983532 | KCNT1 | c.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 |
9 | g.135765676G>A | CA10605353 | KCNT1 | c.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 |
9 | g.135765676G>C | CA375501364 | KCNT1 | c.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 |
9 | g.135765676G= | CA1883866680 | KCNT1 | c.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=) | |
9 | g.135765676G>T | CA375501368 | KCNT1 | c.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) | |
9 | g.135765677A= | CA1883866681 | KCNT1 | c.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=) | |
9 | g.135765677A>C | CA375501371 | KCNT1 | c.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 |
9 | g.135765677A>G | CA467698152 | KCNT1 | c.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=) | |
9 | g.135765677A>T | CA375501374 | KCNT1 | c.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) | |
9 | g.135765678G>A | CA375501376 | KCNT1 | c.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 |
9 | g.135765678G>C | CA375501378 | KCNT1 | c.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 |
9 | g.135765678G>T | CA375501381 | KCNT1 | c.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) | |
9 | g.135765679T>A | CA375501390 | KCNT1 | c.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) | |
9 | g.135765679T>C | CA375501394 | KCNT1 | c.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 |
9 | g.135765679T>G | CA375501396 | KCNT1 | c.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) | |
9 | g.135765680C>A | CA467698153 | KCNT1 | c.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=) | |
9 | g.135765680C= | CA1883866682 | KCNT1 | c.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=) | |
9 | g.135765680C>G | CA231204 | KCNT1 | c.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 |
9 | g.135765680C>T | CA467698154 | KCNT1 | c.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=) | |
9 | g.135765683_135765692dup | CA2580080060 | KCNT1 | c.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 |
9 | g.135765681C>A | CA375501399 | KCNT1 | c.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) | |
9 | g.135765681C= | CA1883866683 | KCNT1 | c.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=) | |
9 | g.135765681C>G | CA375501404 | KCNT1 | c.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) | |
9 | g.135765681C>T | CA5326837 | KCNT1 | c.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 |
9 | g.135765682T>A | CA375501409 | KCNT1 | c.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) | |
9 | g.135765682T>C | CA375501411 | KCNT1 | c.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) | |
9 | g.135765682T>G | CA375501413 | KCNT1 | c.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) | |
9 | g.135765683G>A | CA467698155 | KCNT1 | c.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 |
9 | g.135765683G>C | CA467698156 | KCNT1 | c.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=) | |
9 | g.135765683G= | CA1883866684 | KCNT1 | c.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=) | |
9 | g.135765683G>T | CA5326838 | KCNT1 | c.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 |
9 | g.135765684C>A | CA375501416 | KCNT1 | c.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 |
9 | g.135765684C>G | CA375501417 | KCNT1 | c.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) | |
9 | g.135765684C>T | CA375501420 | KCNT1 | c.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) | |
9 | g.135765685A>C | CA375501422 | KCNT1 | c.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) | |
9 | g.135765685A>G | CA375501424 | KCNT1 | c.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) | |
9 | g.135765685A>T | CA375501425 | KCNT1 | c.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) | |
9 | g.135765686G>A | CA467698157 | KCNT1 | c.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=) | |
9 | g.135765686G>C | CA375501427 | KCNT1 | c.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) | |
9 | g.135765686G>T | CA375501426 | KCNT1 | c.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 |
9 | g.135765687A>C | CA375501429 | KCNT1 | c.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) | |
9 | g.135765687A>G | CA375501433 | KCNT1 | c.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) | |
9 | g.135765687A>T | CA375501432 | KCNT1 | c.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) | |
9 | g.135765688T>A | CA375501435 | KCNT1 | c.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) | |
9 | g.135765688T>C | CA375501440 | KCNT1 | c.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) | |
9 | g.135765688T>G | CA375501436 | KCNT1 | c.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) | |
9 | g.135765689C>A | CA467698158 | KCNT1 | c.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 |
9 | g.135765689C>G | CA375501443 | KCNT1 | c.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 |
9 | g.135765689C>T | CA467698159 | KCNT1 | c.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 |
9 | g.135765690C>A | CA375501452 | KCNT1 | c.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) | |
9 | g.135765690C>G | CA375501448 | KCNT1 | c.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) | |
9 | g.135765690C>T | CA375501449 | KCNT1 | c.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 |
9 | g.135765691C>A | CA375501455 | KCNT1 | c.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) | |
9 | g.135765691C>G | CA375501456 | KCNT1 | c.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) | |
9 | g.135765691C>T | CA375501459 | KCNT1 | c.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) | |
9 | g.135765692T>A | CA467698160 | KCNT1 | c.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=) | |
9 | g.135765692T>C | CA467698161 | KCNT1 | c.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=) | |
9 | g.135765692T>G | CA467698162 | KCNT1 | c.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=) | |
9 | g.135765693C>A | CA375501464 | KCNT1 | c.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) | |
9 | g.135765693C>G | CA375501466 | KCNT1 | c.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) | |
9 | g.135765693C>T | CA467698163 | KCNT1 | c.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=) | |
9 | g.135765694T>A | CA375501469 | KCNT1 | c.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 |
9 | g.135765694T>C | CA375501472 | KCNT1 | c.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) | |
9 | g.135765694T>G | CA375501475 | KCNT1 | c.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) | |
9 | g.135765695G>A | CA467698164 | KCNT1 | c.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 |
9 | g.135765695G>C | CA467698165 | KCNT1 | c.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=) | |
9 | g.135765695G= | CA1883866685 | KCNT1 | c.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=) | |
9 | g.135765695G>T | CA467698166 | KCNT1 | c.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 |
9 | g.135765696T>A | CA375501477 | KCNT1 | c.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) | |
9 | g.135765696T>C | CA375501479 | KCNT1 | c.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) | |
9 | g.135765696T>G | CA375501481 | KCNT1 | c.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) | |
9 | g.135765697G>A | CA375501485 | KCNT1 | c.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 |
9 | g.135765697G>C | CA375501488 | KCNT1 | c.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) | |
9 | g.135765697G>T | CA375501487 | KCNT1 | c.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) | |
9 | g.135765698G>A | CA375501491 | KCNT1 | c.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 |
9 | g.135765698G>C | CA375501494 | KCNT1 | c.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) | |
9 | g.135765698G>T | CA375501498 | KCNT1 | c.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) | |
9 | g.135765699T>A | CA375501501 | KCNT1 | c.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) | |
9 | g.135765699T>C | CA375501503 | KCNT1 | c.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) | |
9 | g.135765699T>G | CA375501505 | KCNT1 | c.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) | |
9 | g.135765700C>A | CA375501509 | KCNT1 | c.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) | |
9 | g.135765700C= | CA1883866686 | KCNT1 | c.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=) | |
9 | g.135765700C>G | CA375501511 | KCNT1 | c.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 |
9 | g.135765700C>T | CA375501513 | KCNT1 | c.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) | |
9 | g.135765701C>A | CA467698167 | KCNT1 | c.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=) | |
9 | g.135765701C>G | CA467698168 | KCNT1 | c.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=) | |
9 | g.135765701C>T | CA467698169 | KCNT1 | c.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 |
9 | g.135765702C>A | CA375501520 | KCNT1 | c.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) | |
9 | g.135765702C>G | CA375501517 | KCNT1 | c.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) | |
9 | g.135765702C>T | CA375501516 | KCNT1 | c.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) | |
9 | g.135765703A>C | CA375501522 | KCNT1 | c.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) | |
9 | g.135765703A>G | CA375501525 | KCNT1 | c.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 |
9 | g.135765703A>T | CA375501526 | KCNT1 | c.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) | |
9 | g.135765704G>A | CA467698170 | KCNT1 | c.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 |
9 | g.135765704G>C | CA375501529 | KCNT1 | c.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) | |
9 | g.135765704G>T | CA375501532 | KCNT1 | c.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 |
9 | g.135765705C>A | CA467698171 | KCNT1 | c.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 |
9 | g.135765705C= | CA1883866687 | KCNT1 | c.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=) | |
9 | g.135765705C>G | CA375501535 | KCNT1 | c.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) | |
9 | g.135765705C>T | CA5326839 | KCNT1 | c.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 |
9 | g.135765706G>A | CA130389 | KCNT1 | c.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 |
9 | g.135765706G>C | CA375501540 | KCNT1 | c.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) | |
9 | g.135765706G= | CA1883866688 | KCNT1 | c.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=) | |
9 | g.135765706G>T | CA375501543 | KCNT1 | c.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 |
9 | g.135765707G>A | CA16612639 | KCNT1 | c.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 |
9 | g.135765707G>C | CA467698172 | KCNT1 | c.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=) | |
9 | g.135765707G= | CA1883866689 | KCNT1 | c.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=) | |
9 | g.135765707G>T | CA467698173 | KCNT1 | c.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 |
9 | g.135765708G>A | CA375501547 | KCNT1 | c.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) | |
9 | g.135765708G>C | CA375501549 | KCNT1 | c.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) | |
9 | g.135765708G>T | CA375501551 | KCNT1 | c.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 |
9 | g.135765709T>A | CA375501555 | KCNT1 | c.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) | |
9 | g.135765709T>C | CA375501560 | KCNT1 | c.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 |
9 | g.135765709T>G | CA375501557 | KCNT1 | c.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) | |
9 | g.135765710C>A | CA467698174 | KCNT1 | c.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 |
9 | g.135765710C= | CA1883866690 | KCNT1 | c.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=) | |
9 | g.135765710C>G | CA467698175 | KCNT1 | c.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=) | |
9 | g.135765710C>T | CA5326840 | KCNT1 | c.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 |
9 | g.135765711A>C | CA375501565 | KCNT1 | c.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) | |
9 | g.135765711A>G | CA375501567 | KCNT1 | c.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) | |
9 | g.135765711A>T | CA375501570 | KCNT1 | c.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) | |
9 | g.135765712T>A | CA375501573 | KCNT1 | c.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 |
9 | g.135765712T>C | CA375501576 | KCNT1 | c.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 |
9 | g.135765712T>G | CA375501578 | KCNT1 | c.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) | |
9 | g.135765712T= | CA1883866691 | KCNT1 | c.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=) | |
9 | g.135765713C>A | CA467698176 | KCNT1 | c.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=) | |
9 | g.135765713C>G | CA375501581 | KCNT1 | c.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 |
9 | g.135765713C>T | CA467698177 | KCNT1 | c.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 |
9 | g.135765714T>A | CA375501584 | KCNT1 | c.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) | |
9 | g.135765714T>C | CA375501587 | KCNT1 | c.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) | |
9 | g.135765714T>G | CA375501589 | KCNT1 | c.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) | |
9 | g.135765715A>C | CA375501597 | KCNT1 | c.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) | |
9 | g.135765715A>G | CA375501599 | KCNT1 | c.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 |
9 | g.135765715A>T | CA375501594 | KCNT1 | c.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) | |
9 | g.135765716C>A | CA375501603 | KCNT1 | c.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) | |
9 | g.135765716C= | CA1883866692 | KCNT1 | c.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=) | |
9 | g.135765716C>G | CA375501601 | KCNT1 | c.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 |
9 | g.135765716C>T | CA467698178 | KCNT1 | c.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 |
9 | g.135765717C>A | CA375501606 | KCNT1 | c.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) | |
9 | g.135765717C>G | CA375501608 | KCNT1 | c.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) | |
9 | g.135765717C>T | CA375501610 | KCNT1 | c.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) | |
9 | g.135765718T>A | CA375501615 | KCNT1 | c.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) | |
9 | g.135765718T>C | CA375501617 | KCNT1 | c.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) | |
9 | g.135765718T>G | CA375501619 | KCNT1 | c.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) | |
9 | g.135765719C>A | CA467698179 | KCNT1 | c.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=) | |
9 | g.135765719C= | CA1883866693 | KCNT1 | c.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=) | |
9 | g.135765719C>G | CA16605596 | KCNT1 | c.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 |
9 | g.135765719C>T | CA467698180 | KCNT1 | c.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 |
9 | g.135765720C>A | CA375501624 | KCNT1 | c.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) | |
9 | g.135765720C= | CA1883866694 | KCNT1 | c.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=) | |
9 | g.135765720C>G | CA375501633 | KCNT1 | c.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) | |
9 | g.135765720C>T | CA375501635 | KCNT1 | c.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 |
9 | g.135765721A>C | CA375501638 | KCNT1 | c.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) | |
9 | g.135765721A>G | CA375501641 | KCNT1 | c.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) | |
9 | g.135765721A>T | CA375501643 | KCNT1 | c.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) | |
9 | g.135765722G>A | CA467698181 | KCNT1 | c.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=) | |
9 | g.135765722G>C | CA375501645 | KCNT1 | c.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) | |
9 | g.135765722G>T | CA375501647 | KCNT1 | c.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) | |
9 | g.135765723G>A | CA375501652 | KCNT1 | c.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 |
9 | g.135765723G>C | CA375501653 | KCNT1 | c.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) | |
9 | g.135765723G>T | CA375501654 | KCNT1 | c.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) | |
9 | g.135765724G>A | CA375501659 | KCNT1 | c.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) | |
9 | g.135765724G>C | CA375501661 | KCNT1 | c.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) | |
9 | g.135765724G>T | CA375501663 | KCNT1 | c.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) | |
9 | g.135765725C>A | CA467698182 | KCNT1 | c.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 |
9 | g.135765725C= | CA1883866695 | KCNT1 | c.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=) | |
9 | g.135765725C>G | CA467698183 | KCNT1 | c.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=) | |
9 | g.135765725C>T | CA467698184 | KCNT1 | c.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 |
9 | g.135765726del | CA2692516608 | KCNT1 | c.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 |
9 | g.135765726T>A | CA375501666 | KCNT1 | c.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) | |
9 | g.135765726T>C | CA375501679 | KCNT1 | c.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 |
9 | g.135765726T>G | CA375501682 | KCNT1 | c.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) | |
9 | g.135765727C>A | CA375501684 | KCNT1 | c.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 |
9 | g.135765727C>G | CA375501686 | KCNT1 | c.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) | |
9 | g.135765727C>T | CA375501688 | KCNT1 | c.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) | |
9 | g.135765728T>A | CA467698185 | KCNT1 | c.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=) | |
9 | g.135765728T>C | CA467698186 | KCNT1 | c.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 |
9 | g.135765728T>G | CA467698187 | KCNT1 | c.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=) | |
9 | g.135765729G>A | CA375501695 | KCNT1 | c.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 |
9 | g.135765729G>C | CA375501698 | KCNT1 | c.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 |
9 | g.135765729G= | CA1883866696 | KCNT1 | c.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=) | |
9 | g.135765729G>T | CA375501692 | KCNT1 | c.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) | |
9 | g.135765730C>A | CA375501701 | KCNT1 | c.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) | |
9 | g.135765730C>G | CA375501704 | KCNT1 | c.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) | |
9 | g.135765730C>T | CA375501707 | KCNT1 | c.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 |
9 | g.135765731A>C | CA467698188 | KCNT1 | c.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=) | |
9 | g.135765731A>G | CA467698189 | KCNT1 | c.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=) | |
9 | g.135765731A>T | CA467698190 | KCNT1 | c.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=) | |
9 | g.135765732C>A | CA375501710 | KCNT1 | c.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 |
9 | g.135765732C= | CA1883866697 | KCNT1 | c.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=) | |
9 | g.135765732C>G | CA375501713 | KCNT1 | c.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) | |
9 | g.135765732C>T | CA16042762 | KCNT1 | c.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 |
9 | g.135765733T>A | CA375501718 | KCNT1 | c.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) | |
9 | g.135765733T>C | CA201465715 | KCNT1 | c.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 |
9 | g.135765733T>G | CA375501722 | KCNT1 | c.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) | |
9 | g.135765733T= | CA1883866698 | KCNT1 | c.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=) | |
9 | g.135765734C>A | CA467698191 | KCNT1 | c.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 |
9 | g.135765734C= | CA1883866699 | KCNT1 | c.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=) | |
9 | g.135765734C>G | CA467698192 | KCNT1 | c.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 |
9 | g.135765734C>T | CA5326841 | KCNT1 | c.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 |
9 | g.135765735A>C | CA375501728 | KCNT1 | c.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) | |
9 | g.135765735A>G | CA375501729 | KCNT1 | c.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) | |
9 | g.135765735A>T | CA375501732 | KCNT1 | c.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) | |
9 | g.135765735_135765736insTA | CA591144186 | KCNT1 | c.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 |
9 | g.135765737dup | CA591144187 | KCNT1 | c.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 |
9 | g.135765736A= | CA1883866700 | KCNT1 | c.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=) | |
9 | g.135765736A>C | CA375501740 | KCNT1 | c.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) | |
9 | g.135765736A>G | CA201465723 | KCNT1 | c.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 |
9 | g.135765736A>T | CA375501735 | KCNT1 | c.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) | |
9 | g.135765737A>C | CA375501743 | KCNT1 | c.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) | |
9 | g.135765737A>G | CA467698193 | KCNT1 | c.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=) | |
9 | g.135765737A>T | CA375501746 | KCNT1 | c.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) | |
9 | g.135765738G>A | CA375501754 | KCNT1 | c.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) | |
9 | g.135765738G>C | CA375501756 | KCNT1 | c.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) | |
9 | g.135765738G>T | CA375501759 | KCNT1 | c.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) | |
9 | g.135765739A>C | CA375501762 | KCNT1 | c.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 |
9 | g.135765739A>G | CA375501765 | KCNT1 | c.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) | |
9 | g.135765739A>T | CA375501767 | KCNT1 | c.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) | |
9 | g.135765740C>A | CA375501771 | KCNT1 | c.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 |
9 | g.135765740C>G | CA375501774 | KCNT1 | c.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 |
9 | g.135765740C>T | CA467698194 | KCNT1 | c.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 |
9 | g.135765741C>A | CA375501778 | KCNT1 | c.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) | |
9 | g.135765741C>G | CA375501781 | KCNT1 | c.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) | |
9 | g.135765741C>T | CA375501783 | KCNT1 | c.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 |
9 | g.135765742A>C | CA375501792 | KCNT1 | c.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) | |
9 | g.135765742A>G | CA375501788 | KCNT1 | c.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 |
9 | g.135765742A>T | CA375501786 | KCNT1 | c.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) | |
9 | g.135765743G>A | CA467698195 | KCNT1 | c.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 |
9 | g.135765743G>C | CA375501795 | KCNT1 | c.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) | |
9 | g.135765743G>T | CA375501798 | KCNT1 | c.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 |
9 | g.135765744G>A | CA375501801 | KCNT1 | c.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) | |
9 | g.135765744G>C | CA375501807 | KCNT1 | c.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 |
9 | g.135765744G>T | CA375501804 | KCNT1 | c.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) | |
9 | g.135765745A>C | CA375501810 | KCNT1 | c.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) | |
9 | g.135765745A>G | CA375501812 | KCNT1 | c.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) | |
9 | g.135765745A>T | CA375501815 | KCNT1 | c.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) | |
9 | g.135765746C>A | CA5326843 | KCNT1 | c.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 |
9 | g.135765746C= | CA1883866701 | KCNT1 | c.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=) | |
9 | g.135765746C>G | CA375501819 | KCNT1 | c.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) | |
9 | g.135765746C>T | CA5326842 | KCNT1 | c.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 |
9 | g.135765747C>A | CA375501824 | KCNT1 | c.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 |
9 | g.135765747C>G | CA375501826 | KCNT1 | c.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) | |
9 | g.135765747C>T | CA375501829 | KCNT1 | c.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) | |
9 | g.135765748T>A | CA375501832 | KCNT1 | c.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) | |
9 | g.135765748T>C | CA375501837 | KCNT1 | c.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 |
9 | g.135765748T>G | CA375501844 | KCNT1 | c.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) | |
9 | g.135765749C>A | CA5326844 | KCNT1 | c.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 |
9 | g.135765749C= | CA1883866702 | KCNT1 | c.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=) | |
9 | g.135765749C>G | CA467698197 | KCNT1 | c.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=) | |
9 | g.135765749C>T | CA467698196 | KCNT1 | c.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 |
9 | g.135765749_135765750delinsAT | CA658797372 | KCNT1 | c.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 |
9 | g.135765749_135765750delinsCA | CA1883866703 | KCNT1 | c.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=) | |
9 | g.135765750A= | CA1883866704 | KCNT1 | c.1327A= (p.Met443=) c.17A= n.54A= n.66A= c.1168A= (p.Met390=) c.1075A= (p.Met359=) c.1084A= (p.Met362=) c.1228A= (p.Met410=) c.*937A= (n.*937A=) c.1210A= (p.Met404=) c.1270A= (p.Met424=) n.1146A= c.1192A= (p.Met398=) c.1462A= (p.Met488=) c.1471A= (p.Met491=) c.817A= (p.Met273=) c.1261A= (p.Met421=) | |
9 | g.135765750A>C | CA375501845 | KCNT1 | c.1327A>C (p.Met443Leu) c.17A>C n.54A>C n.66A>C c.1168A>C (p.Met390Leu) c.1075A>C (p.Met359Leu) c.1084A>C (p.Met362Leu) c.1228A>C (p.Met410Leu) c.*937A>C (n.*937A>C) c.1210A>C (p.Met404Leu) c.1270A>C (p.Met424Leu) n.1146A>C c.1192A>C (p.Met398Leu) c.1462A>C (p.Met488Leu) c.1471A>C (p.Met491Leu) c.817A>C (p.Met273Leu) c.1261A>C (p.Met421Leu) | |
9 | g.135765750A>G | CA375501846 | KCNT1 | c.1327A>G (p.Met443Val) c.17A>G n.54A>G n.66A>G c.1168A>G (p.Met390Val) c.1075A>G (p.Met359Val) c.1084A>G (p.Met362Val) c.1228A>G (p.Met410Val) c.*937A>G (n.*937A>G) c.1210A>G (p.Met404Val) c.1270A>G (p.Met424Val) n.1146A>G c.1192A>G (p.Met398Val) c.1462A>G (p.Met488Val) c.1471A>G (p.Met491Val) c.817A>G (p.Met273Val) c.1261A>G (p.Met421Val) | |
9 | g.135765750A>T | CA5326845 | KCNT1 | c.1327A>T (p.Met443Leu) c.17A>T n.54A>T n.66A>T c.1168A>T (p.Met390Leu) c.1075A>T (p.Met359Leu) c.1084A>T (p.Met362Leu) c.1228A>T (p.Met410Leu) c.*937A>T (n.*937A>T) c.1210A>T (p.Met404Leu) c.1270A>T (p.Met424Leu) n.1146A>T c.1192A>T (p.Met398Leu) c.1462A>T (p.Met488Leu) c.1471A>T (p.Met491Leu) c.817A>T (p.Met273Leu) c.1261A>T (p.Met421Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.135765751T>A | CA375501853 | KCNT1 | c.1328T>A (p.Met443Lys) c.18T>A n.55T>A n.67T>A c.1169T>A (p.Met390Lys) c.1076T>A (p.Met359Lys) c.1085T>A (p.Met362Lys) c.1229T>A (p.Met410Lys) c.*938T>A (n.*938T>A) c.1211T>A (p.Met404Lys) c.1271T>A (p.Met424Lys) n.1147T>A c.1193T>A (p.Met398Lys) c.1463T>A (p.Met488Lys) c.1472T>A (p.Met491Lys) c.818T>A (p.Met273Lys) c.1262T>A (p.Met421Lys) | |
9 | g.135765751T>C | CA5326846 | KCNT1 | c.1328T>C (p.Met443Thr) c.18T>C n.55T>C n.67T>C c.1169T>C (p.Met390Thr) c.1076T>C (p.Met359Thr) c.1085T>C (p.Met362Thr) c.1229T>C (p.Met410Thr) c.*938T>C (n.*938T>C) c.1211T>C (p.Met404Thr) c.1271T>C (p.Met424Thr) n.1147T>C c.1193T>C (p.Met398Thr) c.1463T>C (p.Met488Thr) c.1472T>C (p.Met491Thr) c.818T>C (p.Met273Thr) c.1262T>C (p.Met421Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.135765751T>G | CA375501856 | KCNT1 | c.1328T>G (p.Met443Arg) c.18T>G n.55T>G n.67T>G c.1169T>G (p.Met390Arg) c.1076T>G (p.Met359Arg) c.1085T>G (p.Met362Arg) c.1229T>G (p.Met410Arg) c.*938T>G (n.*938T>G) c.1211T>G (p.Met404Arg) c.1271T>G (p.Met424Arg) n.1147T>G c.1193T>G (p.Met398Arg) c.1463T>G (p.Met488Arg) c.1472T>G (p.Met491Arg) c.818T>G (p.Met273Arg) c.1262T>G (p.Met421Arg) | |
9 | g.135765751T= | CA1883866705 | KCNT1 | c.1328T= (p.Met443=) c.18T= n.55T= n.67T= c.1169T= (p.Met390=) c.1076T= (p.Met359=) c.1085T= (p.Met362=) c.1229T= (p.Met410=) c.*938T= (n.*938T=) c.1211T= (p.Met404=) c.1271T= (p.Met424=) n.1147T= c.1193T= (p.Met398=) c.1463T= (p.Met488=) c.1472T= (p.Met491=) c.818T= (p.Met273=) c.1262T= (p.Met421=) | |
9 | g.135765752G>A | CA375501857 | KCNT1 | c.1329G>A (p.Met443Ile) c.19G>A n.56G>A n.68G>A c.1170G>A (p.Met390Ile) c.1077G>A (p.Met359Ile) c.1086G>A (p.Met362Ile) c.1230G>A (p.Met410Ile) c.*939G>A (n.*939G>A) c.1212G>A (p.Met404Ile) c.1272G>A (p.Met424Ile) n.1148G>A c.1194G>A (p.Met398Ile) c.1464G>A (p.Met488Ile) c.1473G>A (p.Met491Ile) c.819G>A (p.Met273Ile) c.1263G>A (p.Met421Ile) | gnomAD v4 |
9 | g.135765752G>C | CA375501859 | KCNT1 | c.1329G>C (p.Met443Ile) c.19G>C n.56G>C n.68G>C c.1170G>C (p.Met390Ile) c.1077G>C (p.Met359Ile) c.1086G>C (p.Met362Ile) c.1230G>C (p.Met410Ile) c.*939G>C (n.*939G>C) c.1212G>C (p.Met404Ile) c.1272G>C (p.Met424Ile) n.1148G>C c.1194G>C (p.Met398Ile) c.1464G>C (p.Met488Ile) c.1473G>C (p.Met491Ile) c.819G>C (p.Met273Ile) c.1263G>C (p.Met421Ile) | |
9 | g.135765752G>T | CA375501860 | KCNT1 | c.1329G>T (p.Met443Ile) c.19G>T n.56G>T n.68G>T c.1170G>T (p.Met390Ile) c.1077G>T (p.Met359Ile) c.1086G>T (p.Met362Ile) c.1230G>T (p.Met410Ile) c.*939G>T (n.*939G>T) c.1212G>T (p.Met404Ile) c.1272G>T (p.Met424Ile) n.1148G>T c.1194G>T (p.Met398Ile) c.1464G>T (p.Met488Ile) c.1473G>T (p.Met491Ile) c.819G>T (p.Met273Ile) c.1263G>T (p.Met421Ile) | gnomAD v4 |
9 | g.135765753C>A | CA467698198 | KCNT1 | c.1330C>A (p.Arg444=) c.20C>A n.57C>A n.69C>A c.1171C>A (p.Arg391=) c.1078C>A (p.Arg360=) c.1087C>A (p.Arg363=) c.1231C>A (p.Arg411=) c.*940C>A (n.*940C>A) c.1213C>A (p.Arg405=) c.1273C>A (p.Arg425=) n.1149C>A c.1195C>A (p.Arg399=) c.1465C>A (p.Arg489=) c.1474C>A (p.Arg492=) c.820C>A (p.Arg274=) c.1264C>A (p.Arg422=) | gnomAD v4 |
9 | g.135765753C= | CA1883866706 | KCNT1 | c.1330C= (p.Arg444=) c.20C= n.57C= n.69C= c.1171C= (p.Arg391=) c.1078C= (p.Arg360=) c.1087C= (p.Arg363=) c.1231C= (p.Arg411=) c.*940C= (n.*940C=) c.1213C= (p.Arg405=) c.1273C= (p.Arg425=) n.1149C= c.1195C= (p.Arg399=) c.1465C= (p.Arg489=) c.1474C= (p.Arg492=) c.820C= (p.Arg274=) c.1264C= (p.Arg422=) | |
9 | g.135765753C>G | CA201465732 | KCNT1 | c.1330C>G (p.Arg444Gly) c.20C>G n.57C>G n.69C>G c.1171C>G (p.Arg391Gly) c.1078C>G (p.Arg360Gly) c.1087C>G (p.Arg363Gly) c.1231C>G (p.Arg411Gly) c.*940C>G (n.*940C>G) c.1213C>G (p.Arg405Gly) c.1273C>G (p.Arg425Gly) n.1149C>G c.1195C>G (p.Arg399Gly) c.1465C>G (p.Arg489Gly) c.1474C>G (p.Arg492Gly) c.820C>G (p.Arg274Gly) c.1264C>G (p.Arg422Gly) | dbSNP gnomAD v4 |
9 | g.135765753C>T | CA5326847 | KCNT1 | c.1330C>T (p.Arg444Ter) c.20C>T n.57C>T n.69C>T c.1171C>T (p.Arg391Ter) c.1078C>T (p.Arg360Ter) c.1087C>T (p.Arg363Ter) c.1231C>T (p.Arg411Ter) c.*940C>T (n.*940C>T) c.1213C>T (p.Arg405Ter) c.1273C>T (p.Arg425Ter) n.1149C>T c.1195C>T (p.Arg399Ter) c.1465C>T (p.Arg489Ter) c.1474C>T (p.Arg492Ter) c.820C>T (p.Arg274Ter) c.1264C>T (p.Arg422Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.135765754G>A | CA375501864 | KCNT1 | c.1331G>A (p.Arg444Gln) c.21G>A n.58G>A n.70G>A c.1172G>A (p.Arg391Gln) c.1079G>A (p.Arg360Gln) c.1088G>A (p.Arg363Gln) c.1232G>A (p.Arg411Gln) c.*941G>A (n.*941G>A) c.1214G>A (p.Arg405Gln) c.1274G>A (p.Arg425Gln) n.1150G>A c.1196G>A (p.Arg399Gln) c.1466G>A (p.Arg489Gln) c.1475G>A (p.Arg492Gln) c.821G>A (p.Arg274Gln) c.1265G>A (p.Arg422Gln) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.135765754G>C | CA375501866 | KCNT1 | c.1331G>C (p.Arg444Pro) c.21G>C n.58G>C n.70G>C c.1172G>C (p.Arg391Pro) c.1079G>C (p.Arg360Pro) c.1088G>C (p.Arg363Pro) c.1232G>C (p.Arg411Pro) c.*941G>C (n.*941G>C) c.1214G>C (p.Arg405Pro) c.1274G>C (p.Arg425Pro) n.1150G>C c.1196G>C (p.Arg399Pro) c.1466G>C (p.Arg489Pro) c.1475G>C (p.Arg492Pro) c.821G>C (p.Arg274Pro) c.1265G>C (p.Arg422Pro) | |
9 | g.135765754G= | CA1883866707 | KCNT1 | c.1331G= (p.Arg444=) c.21G= n.58G= n.70G= c.1172G= (p.Arg391=) c.1079G= (p.Arg360=) c.1088G= (p.Arg363=) c.1232G= (p.Arg411=) c.*941G= (n.*941G=) c.1214G= (p.Arg405=) c.1274G= (p.Arg425=) n.1150G= c.1196G= (p.Arg399=) c.1466G= (p.Arg489=) c.1475G= (p.Arg492=) c.821G= (p.Arg274=) c.1265G= (p.Arg422=) | |
9 | g.135765754G>T | CA375501868 | KCNT1 | c.1331G>T (p.Arg444Leu) c.21G>T n.58G>T n.70G>T c.1172G>T (p.Arg391Leu) c.1079G>T (p.Arg360Leu) c.1088G>T (p.Arg363Leu) c.1232G>T (p.Arg411Leu) c.*941G>T (n.*941G>T) c.1214G>T (p.Arg405Leu) c.1274G>T (p.Arg425Leu) n.1150G>T c.1196G>T (p.Arg399Leu) c.1466G>T (p.Arg489Leu) c.1475G>T (p.Arg492Leu) c.821G>T (p.Arg274Leu) c.1265G>T (p.Arg422Leu) | gnomAD v4 |
9 | g.135765755A>C | CA467698199 | KCNT1 | c.1332A>C (p.Arg444=) c.22A>C n.59A>C n.71A>C c.1173A>C (p.Arg391=) c.1080A>C (p.Arg360=) c.1089A>C (p.Arg363=) c.1233A>C (p.Arg411=) c.*942A>C (n.*942A>C) c.1215A>C (p.Arg405=) c.1275A>C (p.Arg425=) n.1151A>C c.1197A>C (p.Arg399=) c.1467A>C (p.Arg489=) c.1476A>C (p.Arg492=) c.822A>C (p.Arg274=) c.1266A>C (p.Arg422=) | |
9 | g.135765755A>G | CA467698200 | KCNT1 | c.1332A>G (p.Arg444=) c.22A>G n.59A>G n.71A>G c.1173A>G (p.Arg391=) c.1080A>G (p.Arg360=) c.1089A>G (p.Arg363=) c.1233A>G (p.Arg411=) c.*942A>G (n.*942A>G) c.1215A>G (p.Arg405=) c.1275A>G (p.Arg425=) n.1151A>G c.1197A>G (p.Arg399=) c.1467A>G (p.Arg489=) c.1476A>G (p.Arg492=) c.822A>G (p.Arg274=) c.1266A>G (p.Arg422=) | |
9 | g.135765755A>T | CA467698201 | KCNT1 | c.1332A>T (p.Arg444=) c.22A>T n.59A>T n.71A>T c.1173A>T (p.Arg391=) c.1080A>T (p.Arg360=) c.1089A>T (p.Arg363=) c.1233A>T (p.Arg411=) c.*942A>T (n.*942A>T) c.1215A>T (p.Arg405=) c.1275A>T (p.Arg425=) n.1151A>T c.1197A>T (p.Arg399=) c.1467A>T (p.Arg489=) c.1476A>T (p.Arg492=) c.822A>T (p.Arg274=) c.1266A>T (p.Arg422=) | |
9 | g.135765756G>A | CA375501871 | KCNT1 | c.1333G>A (p.Ala445Thr) c.23G>A n.60G>A n.72G>A c.1174G>A (p.Ala392Thr) c.1081G>A (p.Ala361Thr) c.1090G>A (p.Ala364Thr) c.1234G>A (p.Ala412Thr) c.*943G>A (n.*943G>A) c.1216G>A (p.Ala406Thr) c.1276G>A (p.Ala426Thr) n.1152G>A c.1198G>A (p.Ala400Thr) c.1468G>A (p.Ala490Thr) c.1477G>A (p.Ala493Thr) c.823G>A (p.Ala275Thr) c.1267G>A (p.Ala423Thr) | gnomAD v4 |
9 | g.135765756G>C | CA375501876 | KCNT1 | c.1333G>C (p.Ala445Pro) c.23G>C n.60G>C n.72G>C c.1174G>C (p.Ala392Pro) c.1081G>C (p.Ala361Pro) c.1090G>C (p.Ala364Pro) c.1234G>C (p.Ala412Pro) c.*943G>C (n.*943G>C) c.1216G>C (p.Ala406Pro) c.1276G>C (p.Ala426Pro) n.1152G>C c.1198G>C (p.Ala400Pro) c.1468G>C (p.Ala490Pro) c.1477G>C (p.Ala493Pro) c.823G>C (p.Ala275Pro) c.1267G>C (p.Ala423Pro) | |
9 | g.135765756G>T | CA375501874 | KCNT1 | c.1333G>T (p.Ala445Ser) c.23G>T n.60G>T n.72G>T c.1174G>T (p.Ala392Ser) c.1081G>T (p.Ala361Ser) c.1090G>T (p.Ala364Ser) c.1234G>T (p.Ala412Ser) c.*943G>T (n.*943G>T) c.1216G>T (p.Ala406Ser) c.1276G>T (p.Ala426Ser) n.1152G>T c.1198G>T (p.Ala400Ser) c.1468G>T (p.Ala490Ser) c.1477G>T (p.Ala493Ser) c.823G>T (p.Ala275Ser) c.1267G>T (p.Ala423Ser) | gnomAD v4 |
9 | g.135765757C>A | CA375501879 | KCNT1 | c.1334C>A (p.Ala445Asp) c.24C>A n.61C>A n.73C>A c.1175C>A (p.Ala392Asp) c.1082C>A (p.Ala361Asp) c.1091C>A (p.Ala364Asp) c.1235C>A (p.Ala412Asp) c.*944C>A (n.*944C>A) c.1217C>A (p.Ala406Asp) c.1277C>A (p.Ala426Asp) n.1153C>A c.1199C>A (p.Ala400Asp) c.1469C>A (p.Ala490Asp) c.1478C>A (p.Ala493Asp) c.824C>A (p.Ala275Asp) c.1268C>A (p.Ala423Asp) | gnomAD v4 |
9 | g.135765757C>G | CA375501882 | KCNT1 | c.1334C>G (p.Ala445Gly) c.24C>G n.61C>G n.73C>G c.1175C>G (p.Ala392Gly) c.1082C>G (p.Ala361Gly) c.1091C>G (p.Ala364Gly) c.1235C>G (p.Ala412Gly) c.*944C>G (n.*944C>G) c.1217C>G (p.Ala406Gly) c.1277C>G (p.Ala426Gly) n.1153C>G c.1199C>G (p.Ala400Gly) c.1469C>G (p.Ala490Gly) c.1478C>G (p.Ala493Gly) c.824C>G (p.Ala275Gly) c.1268C>G (p.Ala423Gly) | |
9 | g.135765757C>T | CA375501886 | KCNT1 | c.1334C>T (p.Ala445Val) c.24C>T n.61C>T n.73C>T c.1175C>T (p.Ala392Val) c.1082C>T (p.Ala361Val) c.1091C>T (p.Ala364Val) c.1235C>T (p.Ala412Val) c.*944C>T (n.*944C>T) c.1217C>T (p.Ala406Val) c.1277C>T (p.Ala426Val) n.1153C>T c.1199C>T (p.Ala400Val) c.1469C>T (p.Ala490Val) c.1478C>T (p.Ala493Val) c.824C>T (p.Ala275Val) c.1268C>T (p.Ala423Val) | gnomAD v4 |
9 | g.135765758C>A | CA467698202 | KCNT1 | c.1335C>A (p.Ala445=) c.25C>A n.62C>A n.74C>A c.1176C>A (p.Ala392=) c.1083C>A (p.Ala361=) c.1092C>A (p.Ala364=) c.1236C>A (p.Ala412=) c.*945C>A (n.*945C>A) c.1218C>A (p.Ala406=) c.1278C>A (p.Ala426=) n.1154C>A c.1200C>A (p.Ala400=) c.1470C>A (p.Ala490=) c.1479C>A (p.Ala493=) c.825C>A (p.Ala275=) c.1269C>A (p.Ala423=) | gnomAD v4 |
9 | g.135765758C= | CA1883866708 | KCNT1 | c.1335C= (p.Ala445=) c.25C= n.62C= n.74C= c.1176C= (p.Ala392=) c.1083C= (p.Ala361=) c.1092C= (p.Ala364=) c.1236C= (p.Ala412=) c.*945C= (n.*945C=) c.1218C= (p.Ala406=) c.1278C= (p.Ala426=) n.1154C= c.1200C= (p.Ala400=) c.1470C= (p.Ala490=) c.1479C= (p.Ala493=) c.825C= (p.Ala275=) c.1269C= (p.Ala423=) | |
9 | g.135765758C>G | CA467698203 | KCNT1 | c.1335C>G (p.Ala445=) c.25C>G n.62C>G n.74C>G c.1176C>G (p.Ala392=) c.1083C>G (p.Ala361=) c.1092C>G (p.Ala364=) c.1236C>G (p.Ala412=) c.*945C>G (n.*945C>G) c.1218C>G (p.Ala406=) c.1278C>G (p.Ala426=) n.1154C>G c.1200C>G (p.Ala400=) c.1470C>G (p.Ala490=) c.1479C>G (p.Ala493=) c.825C>G (p.Ala275=) c.1269C>G (p.Ala423=) | |
9 | g.135765758C>T | CA5326848 | KCNT1 | c.1335C>T (p.Ala445=) c.25C>T n.62C>T n.74C>T c.1176C>T (p.Ala392=) c.1083C>T (p.Ala361=) c.1092C>T (p.Ala364=) c.1236C>T (p.Ala412=) c.*945C>T (n.*945C>T) c.1218C>T (p.Ala406=) c.1278C>T (p.Ala426=) n.1154C>T c.1200C>T (p.Ala400=) c.1470C>T (p.Ala490=) c.1479C>T (p.Ala493=) c.825C>T (p.Ala275=) c.1269C>T (p.Ala423=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135765759A= | CA1883866709 | KCNT1 | c.1336A= (p.Lys446=) c.26A= n.63A= n.75A= c.1177A= (p.Lys393=) c.1084A= (p.Lys362=) c.1093A= (p.Lys365=) c.1237A= (p.Lys413=) c.*946A= (n.*946A=) c.1219A= (p.Lys407=) c.1279A= (p.Lys427=) n.1155A= c.1201A= (p.Lys401=) c.1471A= (p.Lys491=) c.1480A= (p.Lys494=) c.826A= (p.Lys276=) c.1270A= (p.Lys424=) | |
9 | g.135765759A>C | CA5326849 | KCNT1 | c.1336A>C (p.Lys446Gln) c.26A>C n.63A>C n.75A>C c.1177A>C (p.Lys393Gln) c.1084A>C (p.Lys362Gln) c.1093A>C (p.Lys365Gln) c.1237A>C (p.Lys413Gln) c.*946A>C (n.*946A>C) c.1219A>C (p.Lys407Gln) c.1279A>C (p.Lys427Gln) n.1155A>C c.1201A>C (p.Lys401Gln) c.1471A>C (p.Lys491Gln) c.1480A>C (p.Lys494Gln) c.826A>C (p.Lys276Gln) c.1270A>C (p.Lys424Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135765759A>G | CA375501900 | KCNT1 | c.1336A>G (p.Lys446Glu) c.26A>G n.63A>G n.75A>G c.1177A>G (p.Lys393Glu) c.1084A>G (p.Lys362Glu) c.1093A>G (p.Lys365Glu) c.1237A>G (p.Lys413Glu) c.*946A>G (n.*946A>G) c.1219A>G (p.Lys407Glu) c.1279A>G (p.Lys427Glu) n.1155A>G c.1201A>G (p.Lys401Glu) c.1471A>G (p.Lys491Glu) c.1480A>G (p.Lys494Glu) c.826A>G (p.Lys276Glu) c.1270A>G (p.Lys424Glu) | gnomAD v4 |
9 | g.135765759A>T | CA375501901 | KCNT1 | c.1336A>T (p.Lys446Ter) c.26A>T n.63A>T n.75A>T c.1177A>T (p.Lys393Ter) c.1084A>T (p.Lys362Ter) c.1093A>T (p.Lys365Ter) c.1237A>T (p.Lys413Ter) c.*946A>T (n.*946A>T) c.1219A>T (p.Lys407Ter) c.1279A>T (p.Lys427Ter) n.1155A>T c.1201A>T (p.Lys401Ter) c.1471A>T (p.Lys491Ter) c.1480A>T (p.Lys494Ter) c.826A>T (p.Lys276Ter) c.1270A>T (p.Lys424Ter) | |
9 | g.135765760A>C | CA375501902 | KCNT1 | c.1337A>C (p.Lys446Thr) c.27A>C n.64A>C n.76A>C c.1178A>C (p.Lys393Thr) c.1085A>C (p.Lys362Thr) c.1094A>C (p.Lys365Thr) c.1238A>C (p.Lys413Thr) c.*947A>C (n.*947A>C) c.1220A>C (p.Lys407Thr) c.1280A>C (p.Lys427Thr) n.1156A>C c.1202A>C (p.Lys401Thr) c.1472A>C (p.Lys491Thr) c.1481A>C (p.Lys494Thr) c.827A>C (p.Lys276Thr) c.1271A>C (p.Lys424Thr) | |
9 | g.135765760A>G | CA375501904 | KCNT1 | c.1337A>G (p.Lys446Arg) c.27A>G n.64A>G n.76A>G c.1178A>G (p.Lys393Arg) c.1085A>G (p.Lys362Arg) c.1094A>G (p.Lys365Arg) c.1238A>G (p.Lys413Arg) c.*947A>G (n.*947A>G) c.1220A>G (p.Lys407Arg) c.1280A>G (p.Lys427Arg) n.1156A>G c.1202A>G (p.Lys401Arg) c.1472A>G (p.Lys491Arg) c.1481A>G (p.Lys494Arg) c.827A>G (p.Lys276Arg) c.1271A>G (p.Lys424Arg) | |
9 | g.135765760A>T | CA375501907 | KCNT1 | c.1337A>T (p.Lys446Met) c.27A>T n.64A>T n.76A>T c.1178A>T (p.Lys393Met) c.1085A>T (p.Lys362Met) c.1094A>T (p.Lys365Met) c.1238A>T (p.Lys413Met) c.*947A>T (n.*947A>T) c.1220A>T (p.Lys407Met) c.1280A>T (p.Lys427Met) n.1156A>T c.1202A>T (p.Lys401Met) c.1472A>T (p.Lys491Met) c.1481A>T (p.Lys494Met) c.827A>T (p.Lys276Met) c.1271A>T (p.Lys424Met) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.135765761G>A | CA375501910 | KCNT1 | c.1337+1G>A (n.1337+1G>A) c.27+1G>A n.64+1G>A n.76+1G>A c.1178+1G>A (n.1178+1G>A) c.1085+1G>A (n.1085+1G>A) c.1094+1G>A (n.1094+1G>A) c.1238+1G>A (n.1238+1G>A) c.*947+1G>A (n.*947+1G>A) c.1220+1G>A (n.1220+1G>A) c.1280+1G>A (n.1280+1G>A) n.1156+1G>A c.1202+1G>A (n.1202+1G>A) c.1472+1G>A (n.1472+1G>A) c.1481+1G>A (n.1481+1G>A) c.827+1G>A (n.827+1G>A) c.1271+1G>A (n.1271+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135765761G>C | CA375501911 | KCNT1 | c.1337+1G>C (n.1337+1G>C) c.27+1G>C n.64+1G>C n.76+1G>C c.1178+1G>C (n.1178+1G>C) c.1085+1G>C (n.1085+1G>C) c.1094+1G>C (n.1094+1G>C) c.1238+1G>C (n.1238+1G>C) c.*947+1G>C (n.*947+1G>C) c.1220+1G>C (n.1220+1G>C) c.1280+1G>C (n.1280+1G>C) n.1156+1G>C c.1202+1G>C (n.1202+1G>C) c.1472+1G>C (n.1472+1G>C) c.1481+1G>C (n.1481+1G>C) c.827+1G>C (n.827+1G>C) c.1271+1G>C (n.1271+1G>C) | |
9 | g.135765761G= | CA1883866710 | KCNT1 | c.1337+1G= (n.1337+1G=) c.27+1G= n.64+1G= n.76+1G= c.1178+1G= (n.1178+1G=) c.1085+1G= (n.1085+1G=) c.1094+1G= (n.1094+1G=) c.1238+1G= (n.1238+1G=) c.*947+1G= (n.*947+1G=) c.1220+1G= (n.1220+1G=) c.1280+1G= (n.1280+1G=) n.1156+1G= c.1202+1G= (n.1202+1G=) c.1472+1G= (n.1472+1G=) c.1481+1G= (n.1481+1G=) c.827+1G= (n.827+1G=) c.1271+1G= (n.1271+1G=) | |
9 | g.135765761G>T | CA375501913 | KCNT1 | c.1337+1G>T (n.1337+1G>T) c.27+1G>T n.64+1G>T n.76+1G>T c.1178+1G>T (n.1178+1G>T) c.1085+1G>T (n.1085+1G>T) c.1094+1G>T (n.1094+1G>T) c.1238+1G>T (n.1238+1G>T) c.*947+1G>T (n.*947+1G>T) c.1220+1G>T (n.1220+1G>T) c.1280+1G>T (n.1280+1G>T) n.1156+1G>T c.1202+1G>T (n.1202+1G>T) c.1472+1G>T (n.1472+1G>T) c.1481+1G>T (n.1481+1G>T) c.827+1G>T (n.827+1G>T) c.1271+1G>T (n.1271+1G>T) | gnomAD v4 |
9 | g.135765762T>A | CA375501916 | KCNT1 | c.1337+2T>A (n.1337+2T>A) c.27+2T>A n.64+2T>A n.76+2T>A c.1178+2T>A (n.1178+2T>A) c.1085+2T>A (n.1085+2T>A) c.1094+2T>A (n.1094+2T>A) c.1238+2T>A (n.1238+2T>A) c.*947+2T>A (n.*947+2T>A) c.1220+2T>A (n.1220+2T>A) c.1280+2T>A (n.1280+2T>A) n.1156+2T>A c.1202+2T>A (n.1202+2T>A) c.1472+2T>A (n.1472+2T>A) c.1481+2T>A (n.1481+2T>A) c.827+2T>A (n.827+2T>A) c.1271+2T>A (n.1271+2T>A) | |
9 | g.135765762T>C | CA375501920 | KCNT1 | c.1337+2T>C (n.1337+2T>C) c.27+2T>C n.64+2T>C n.76+2T>C c.1178+2T>C (n.1178+2T>C) c.1085+2T>C (n.1085+2T>C) c.1094+2T>C (n.1094+2T>C) c.1238+2T>C (n.1238+2T>C) c.*947+2T>C (n.*947+2T>C) c.1220+2T>C (n.1220+2T>C) c.1280+2T>C (n.1280+2T>C) n.1156+2T>C c.1202+2T>C (n.1202+2T>C) c.1472+2T>C (n.1472+2T>C) c.1481+2T>C (n.1481+2T>C) c.827+2T>C (n.827+2T>C) c.1271+2T>C (n.1271+2T>C) | |
9 | g.135765762T>G | CA375501919 | KCNT1 | c.1337+2T>G (n.1337+2T>G) c.27+2T>G n.64+2T>G n.76+2T>G c.1178+2T>G (n.1178+2T>G) c.1085+2T>G (n.1085+2T>G) c.1094+2T>G (n.1094+2T>G) c.1238+2T>G (n.1238+2T>G) c.*947+2T>G (n.*947+2T>G) c.1220+2T>G (n.1220+2T>G) c.1280+2T>G (n.1280+2T>G) n.1156+2T>G c.1202+2T>G (n.1202+2T>G) c.1472+2T>G (n.1472+2T>G) c.1481+2T>G (n.1481+2T>G) c.827+2T>G (n.827+2T>G) c.1271+2T>G (n.1271+2T>G) | |
9 | g.135765763G>A | CA591144201 | KCNT1 | c.1337+3G>A (n.1337+3G>A) c.27+3G>A n.64+3G>A n.76+3G>A c.1178+3G>A (n.1178+3G>A) c.1085+3G>A (n.1085+3G>A) c.1094+3G>A (n.1094+3G>A) c.1238+3G>A (n.1238+3G>A) c.*947+3G>A (n.*947+3G>A) c.1220+3G>A (n.1220+3G>A) c.1280+3G>A (n.1280+3G>A) n.1156+3G>A c.1202+3G>A (n.1202+3G>A) c.1472+3G>A (n.1472+3G>A) c.1481+3G>A (n.1481+3G>A) c.827+3G>A (n.827+3G>A) c.1271+3G>A (n.1271+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135765763G= | CA1883866711 | KCNT1 | c.1337+3G= (n.1337+3G=) c.27+3G= n.64+3G= n.76+3G= c.1178+3G= (n.1178+3G=) c.1085+3G= (n.1085+3G=) c.1094+3G= (n.1094+3G=) c.1238+3G= (n.1238+3G=) c.*947+3G= (n.*947+3G=) c.1220+3G= (n.1220+3G=) c.1280+3G= (n.1280+3G=) n.1156+3G= c.1202+3G= (n.1202+3G=) c.1472+3G= (n.1472+3G=) c.1481+3G= (n.1481+3G=) c.827+3G= (n.827+3G=) c.1271+3G= (n.1271+3G=) | |
9 | g.135765763G>T | CA2603777726 | KCNT1 | c.1337+3G>T (n.1337+3G>T) c.27+3G>T n.64+3G>T n.76+3G>T c.1178+3G>T (n.1178+3G>T) c.1085+3G>T (n.1085+3G>T) c.1094+3G>T (n.1094+3G>T) c.1238+3G>T (n.1238+3G>T) c.*947+3G>T (n.*947+3G>T) c.1220+3G>T (n.1220+3G>T) c.1280+3G>T (n.1280+3G>T) n.1156+3G>T c.1202+3G>T (n.1202+3G>T) c.1472+3G>T (n.1472+3G>T) c.1481+3G>T (n.1481+3G>T) c.827+3G>T (n.827+3G>T) c.1271+3G>T (n.1271+3G>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.135765764A= | CA1883866712 | KCNT1 | c.1337+4A= (n.1337+4A=) c.27+4A= n.64+4A= n.76+4A= c.1178+4A= (n.1178+4A=) c.1085+4A= (n.1085+4A=) c.1094+4A= (n.1094+4A=) c.1238+4A= (n.1238+4A=) c.*947+4A= (n.*947+4A=) c.1220+4A= (n.1220+4A=) c.1280+4A= (n.1280+4A=) n.1156+4A= c.1202+4A= (n.1202+4A=) c.1472+4A= (n.1472+4A=) c.1481+4A= (n.1481+4A=) c.827+4A= (n.827+4A=) c.1271+4A= (n.1271+4A=) | |
9 | g.135765764A>G | CA591144204 | KCNT1 | c.1337+4A>G (n.1337+4A>G) c.27+4A>G n.64+4A>G n.76+4A>G c.1178+4A>G (n.1178+4A>G) c.1085+4A>G (n.1085+4A>G) c.1094+4A>G (n.1094+4A>G) c.1238+4A>G (n.1238+4A>G) c.*947+4A>G (n.*947+4A>G) c.1220+4A>G (n.1220+4A>G) c.1280+4A>G (n.1280+4A>G) n.1156+4A>G c.1202+4A>G (n.1202+4A>G) c.1472+4A>G (n.1472+4A>G) c.1481+4A>G (n.1481+4A>G) c.827+4A>G (n.827+4A>G) c.1271+4A>G (n.1271+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135765764A>T | CA2579510820 | KCNT1 | c.1337+4A>T (n.1337+4A>T) c.27+4A>T n.64+4A>T n.76+4A>T c.1178+4A>T (n.1178+4A>T) c.1085+4A>T (n.1085+4A>T) c.1094+4A>T (n.1094+4A>T) c.1238+4A>T (n.1238+4A>T) c.*947+4A>T (n.*947+4A>T) c.1220+4A>T (n.1220+4A>T) c.1280+4A>T (n.1280+4A>T) n.1156+4A>T c.1202+4A>T (n.1202+4A>T) c.1472+4A>T (n.1472+4A>T) c.1481+4A>T (n.1481+4A>T) c.827+4A>T (n.827+4A>T) c.1271+4A>T (n.1271+4A>T) | gnomAD v4 |