| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |