Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.135765624G>A | CA375500963 | KCNT1 | c.1201G>A (p.Asp401Asn) c.1042G>A (p.Asp348Asn) c.949G>A (p.Asp317Asn) c.958G>A (p.Asp320Asn) c.1102G>A (p.Asp368Asn) c.*811G>A (n.*811G>A) c.1084G>A (p.Asp362Asn) c.1144G>A (p.Asp382Asn) n.1020G>A c.1066G>A (p.Asp356Asn) c.1336G>A (p.Asp446Asn) c.1345G>A (p.Asp449Asn) c.691G>A (p.Asp231Asn) c.1135G>A (p.Asp379Asn) | |
9 | g.135765624G>C | CA375500964 | KCNT1 | c.1201G>C (p.Asp401His) c.1042G>C (p.Asp348His) c.949G>C (p.Asp317His) c.958G>C (p.Asp320His) c.1102G>C (p.Asp368His) c.*811G>C (n.*811G>C) c.1084G>C (p.Asp362His) c.1144G>C (p.Asp382His) n.1020G>C c.1066G>C (p.Asp356His) c.1336G>C (p.Asp446His) c.1345G>C (p.Asp449His) c.691G>C (p.Asp231His) c.1135G>C (p.Asp379His) | |
9 | g.135765624G>T | CA375500968 | KCNT1 | c.1201G>T (p.Asp401Tyr) c.1042G>T (p.Asp348Tyr) c.949G>T (p.Asp317Tyr) c.958G>T (p.Asp320Tyr) c.1102G>T (p.Asp368Tyr) c.*811G>T (n.*811G>T) c.1084G>T (p.Asp362Tyr) c.1144G>T (p.Asp382Tyr) n.1020G>T c.1066G>T (p.Asp356Tyr) c.1336G>T (p.Asp446Tyr) c.1345G>T (p.Asp449Tyr) c.691G>T (p.Asp231Tyr) c.1135G>T (p.Asp379Tyr) | |
9 | g.135765625A>C | CA375500974 | KCNT1 | c.1202A>C (p.Asp401Ala) c.1043A>C (p.Asp348Ala) c.950A>C (p.Asp317Ala) c.959A>C (p.Asp320Ala) c.1103A>C (p.Asp368Ala) c.*812A>C (n.*812A>C) c.1085A>C (p.Asp362Ala) c.1145A>C (p.Asp382Ala) n.1021A>C c.1067A>C (p.Asp356Ala) c.1337A>C (p.Asp446Ala) c.1346A>C (p.Asp449Ala) c.692A>C (p.Asp231Ala) c.1136A>C (p.Asp379Ala) | |
9 | g.135765625A>G | CA375500970 | KCNT1 | c.1202A>G (p.Asp401Gly) c.1043A>G (p.Asp348Gly) c.950A>G (p.Asp317Gly) c.959A>G (p.Asp320Gly) c.1103A>G (p.Asp368Gly) c.*812A>G (n.*812A>G) c.1085A>G (p.Asp362Gly) c.1145A>G (p.Asp382Gly) n.1021A>G c.1067A>G (p.Asp356Gly) c.1337A>G (p.Asp446Gly) c.1346A>G (p.Asp449Gly) c.692A>G (p.Asp231Gly) c.1136A>G (p.Asp379Gly) | |
9 | g.135765625A>T | CA375500971 | KCNT1 | c.1202A>T (p.Asp401Val) c.1043A>T (p.Asp348Val) c.950A>T (p.Asp317Val) c.959A>T (p.Asp320Val) c.1103A>T (p.Asp368Val) c.*812A>T (n.*812A>T) c.1085A>T (p.Asp362Val) c.1145A>T (p.Asp382Val) n.1021A>T c.1067A>T (p.Asp356Val) c.1337A>T (p.Asp446Val) c.1346A>T (p.Asp449Val) c.692A>T (p.Asp231Val) c.1136A>T (p.Asp379Val) | |
9 | g.135765626C>A | CA375500975 | KCNT1 | c.1203C>A (p.Asp401Glu) c.1044C>A (p.Asp348Glu) c.951C>A (p.Asp317Glu) c.960C>A (p.Asp320Glu) c.1104C>A (p.Asp368Glu) c.*813C>A (n.*813C>A) c.1086C>A (p.Asp362Glu) c.1146C>A (p.Asp382Glu) n.1022C>A c.1068C>A (p.Asp356Glu) c.1338C>A (p.Asp446Glu) c.1347C>A (p.Asp449Glu) c.693C>A (p.Asp231Glu) c.1137C>A (p.Asp379Glu) | |
9 | g.135765626C>G | CA375500977 | KCNT1 | c.1203C>G (p.Asp401Glu) c.1044C>G (p.Asp348Glu) c.951C>G (p.Asp317Glu) c.960C>G (p.Asp320Glu) c.1104C>G (p.Asp368Glu) c.*813C>G (n.*813C>G) c.1086C>G (p.Asp362Glu) c.1146C>G (p.Asp382Glu) n.1022C>G c.1068C>G (p.Asp356Glu) c.1338C>G (p.Asp446Glu) c.1347C>G (p.Asp449Glu) c.693C>G (p.Asp231Glu) c.1137C>G (p.Asp379Glu) | |
9 | g.135765626C>T | CA467698122 | KCNT1 | c.1203C>T (p.Asp401=) c.1044C>T (p.Asp348=) c.951C>T (p.Asp317=) c.960C>T (p.Asp320=) c.1104C>T (p.Asp368=) c.*813C>T (n.*813C>T) c.1086C>T (p.Asp362=) c.1146C>T (p.Asp382=) n.1022C>T c.1068C>T (p.Asp356=) c.1338C>T (p.Asp446=) c.1347C>T (p.Asp449=) c.693C>T (p.Asp231=) c.1137C>T (p.Asp379=) | |
9 | g.135765627T>A | CA375500981 | KCNT1 | c.1204T>A (p.Tyr402Asn) c.1045T>A (p.Tyr349Asn) c.952T>A (p.Tyr318Asn) c.961T>A (p.Tyr321Asn) c.1105T>A (p.Tyr369Asn) c.*814T>A (n.*814T>A) c.1087T>A (p.Tyr363Asn) c.1147T>A (p.Tyr383Asn) n.1023T>A c.1069T>A (p.Tyr357Asn) c.1339T>A (p.Tyr447Asn) c.1348T>A (p.Tyr450Asn) c.694T>A (p.Tyr232Asn) c.1138T>A (p.Tyr380Asn) | |
9 | g.135765627T>C | CA5326826 | KCNT1 | c.1204T>C (p.Tyr402His) c.1045T>C (p.Tyr349His) c.952T>C (p.Tyr318His) c.961T>C (p.Tyr321His) c.1105T>C (p.Tyr369His) c.*814T>C (n.*814T>C) c.1087T>C (p.Tyr363His) c.1147T>C (p.Tyr383His) n.1023T>C c.1069T>C (p.Tyr357His) c.1339T>C (p.Tyr447His) c.1348T>C (p.Tyr450His) c.694T>C (p.Tyr232His) c.1138T>C (p.Tyr380His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.135765627T>G | CA375500993 | KCNT1 | c.1204T>G (p.Tyr402Asp) c.1045T>G (p.Tyr349Asp) c.952T>G (p.Tyr318Asp) c.961T>G (p.Tyr321Asp) c.1105T>G (p.Tyr369Asp) c.*814T>G (n.*814T>G) c.1087T>G (p.Tyr363Asp) c.1147T>G (p.Tyr383Asp) n.1023T>G c.1069T>G (p.Tyr357Asp) c.1339T>G (p.Tyr447Asp) c.1348T>G (p.Tyr450Asp) c.694T>G (p.Tyr232Asp) c.1138T>G (p.Tyr380Asp) | |
9 | g.135765627T= | CA1883866660 | KCNT1 | c.1204T= (p.Tyr402=) c.1045T= (p.Tyr349=) c.952T= (p.Tyr318=) c.961T= (p.Tyr321=) c.1105T= (p.Tyr369=) c.*814T= (n.*814T=) c.1087T= (p.Tyr363=) c.1147T= (p.Tyr383=) n.1023T= c.1069T= (p.Tyr357=) c.1339T= (p.Tyr447=) c.1348T= (p.Tyr450=) c.694T= (p.Tyr232=) c.1138T= (p.Tyr380=) | |
9 | g.135765628A>C | CA375500996 | KCNT1 | c.1205A>C (p.Tyr402Ser) c.1046A>C (p.Tyr349Ser) c.953A>C (p.Tyr318Ser) c.962A>C (p.Tyr321Ser) c.1106A>C (p.Tyr369Ser) c.*815A>C (n.*815A>C) c.1088A>C (p.Tyr363Ser) c.1148A>C (p.Tyr383Ser) n.1024A>C c.1070A>C (p.Tyr357Ser) c.1340A>C (p.Tyr447Ser) c.1349A>C (p.Tyr450Ser) c.695A>C (p.Tyr232Ser) c.1139A>C (p.Tyr380Ser) | gnomAD v4 |
9 | g.135765628A>G | CA375501001 | KCNT1 | c.1205A>G (p.Tyr402Cys) c.1046A>G (p.Tyr349Cys) c.953A>G (p.Tyr318Cys) c.962A>G (p.Tyr321Cys) c.1106A>G (p.Tyr369Cys) c.*815A>G (n.*815A>G) c.1088A>G (p.Tyr363Cys) c.1148A>G (p.Tyr383Cys) n.1024A>G c.1070A>G (p.Tyr357Cys) c.1340A>G (p.Tyr447Cys) c.1349A>G (p.Tyr450Cys) c.695A>G (p.Tyr232Cys) c.1139A>G (p.Tyr380Cys) | |
9 | g.135765628A>T | CA375500997 | KCNT1 | c.1205A>T (p.Tyr402Phe) c.1046A>T (p.Tyr349Phe) c.953A>T (p.Tyr318Phe) c.962A>T (p.Tyr321Phe) c.1106A>T (p.Tyr369Phe) c.*815A>T (n.*815A>T) c.1088A>T (p.Tyr363Phe) c.1148A>T (p.Tyr383Phe) n.1024A>T c.1070A>T (p.Tyr357Phe) c.1340A>T (p.Tyr447Phe) c.1349A>T (p.Tyr450Phe) c.695A>T (p.Tyr232Phe) c.1139A>T (p.Tyr380Phe) | |
9 | g.135765629T>A | CA375501002 | KCNT1 | c.1206T>A (p.Tyr402Ter) c.1047T>A (p.Tyr349Ter) c.954T>A (p.Tyr318Ter) c.963T>A (p.Tyr321Ter) c.1107T>A (p.Tyr369Ter) c.*816T>A (n.*816T>A) c.1089T>A (p.Tyr363Ter) c.1149T>A (p.Tyr383Ter) n.1025T>A c.1071T>A (p.Tyr357Ter) c.1341T>A (p.Tyr447Ter) c.1350T>A (p.Tyr450Ter) c.696T>A (p.Tyr232Ter) c.1140T>A (p.Tyr380Ter) | |
9 | g.135765629T>C | CA467698123 | KCNT1 | c.1206T>C (p.Tyr402=) c.1047T>C (p.Tyr349=) c.954T>C (p.Tyr318=) c.963T>C (p.Tyr321=) c.1107T>C (p.Tyr369=) c.*816T>C (n.*816T>C) c.1089T>C (p.Tyr363=) c.1149T>C (p.Tyr383=) n.1025T>C c.1071T>C (p.Tyr357=) c.1341T>C (p.Tyr447=) c.1350T>C (p.Tyr450=) c.696T>C (p.Tyr232=) c.1140T>C (p.Tyr380=) | |
9 | g.135765629T>G | CA375501003 | KCNT1 | c.1206T>G (p.Tyr402Ter) c.1047T>G (p.Tyr349Ter) c.954T>G (p.Tyr318Ter) c.963T>G (p.Tyr321Ter) c.1107T>G (p.Tyr369Ter) c.*816T>G (n.*816T>G) c.1089T>G (p.Tyr363Ter) c.1149T>G (p.Tyr383Ter) n.1025T>G c.1071T>G (p.Tyr357Ter) c.1341T>G (p.Tyr447Ter) c.1350T>G (p.Tyr450Ter) c.696T>G (p.Tyr232Ter) c.1140T>G (p.Tyr380Ter) | |
9 | g.135765630T>A | CA375501017 | KCNT1 | c.1207T>A (p.Tyr403Asn) c.1048T>A (p.Tyr350Asn) c.955T>A (p.Tyr319Asn) c.964T>A (p.Tyr322Asn) c.1108T>A (p.Tyr370Asn) c.*817T>A (n.*817T>A) c.1090T>A (p.Tyr364Asn) c.1150T>A (p.Tyr384Asn) n.1026T>A c.1072T>A (p.Tyr358Asn) c.1342T>A (p.Tyr448Asn) c.1351T>A (p.Tyr451Asn) c.697T>A (p.Tyr233Asn) c.1141T>A (p.Tyr381Asn) | |
9 | g.135765630T>C | CA375501020 | KCNT1 | c.1207T>C (p.Tyr403His) c.1048T>C (p.Tyr350His) c.955T>C (p.Tyr319His) c.964T>C (p.Tyr322His) c.1108T>C (p.Tyr370His) c.*817T>C (n.*817T>C) c.1090T>C (p.Tyr364His) c.1150T>C (p.Tyr384His) n.1026T>C c.1072T>C (p.Tyr358His) c.1342T>C (p.Tyr448His) c.1351T>C (p.Tyr451His) c.697T>C (p.Tyr233His) c.1141T>C (p.Tyr381His) | |
9 | g.135765630T>G | CA375501023 | KCNT1 | c.1207T>G (p.Tyr403Asp) c.1048T>G (p.Tyr350Asp) c.955T>G (p.Tyr319Asp) c.964T>G (p.Tyr322Asp) c.1108T>G (p.Tyr370Asp) c.*817T>G (n.*817T>G) c.1090T>G (p.Tyr364Asp) c.1150T>G (p.Tyr384Asp) n.1026T>G c.1072T>G (p.Tyr358Asp) c.1342T>G (p.Tyr448Asp) c.1351T>G (p.Tyr451Asp) c.697T>G (p.Tyr233Asp) c.1141T>G (p.Tyr381Asp) | |
9 | g.135765631A>C | CA375501027 | KCNT1 | c.1208A>C (p.Tyr403Ser) c.1049A>C (p.Tyr350Ser) c.956A>C (p.Tyr319Ser) c.965A>C (p.Tyr322Ser) c.1109A>C (p.Tyr370Ser) c.*818A>C (n.*818A>C) c.1091A>C (p.Tyr364Ser) c.1151A>C (p.Tyr384Ser) n.1027A>C c.1073A>C (p.Tyr358Ser) c.1343A>C (p.Tyr448Ser) c.1352A>C (p.Tyr451Ser) c.698A>C (p.Tyr233Ser) c.1142A>C (p.Tyr381Ser) | |
9 | g.135765631A>G | CA375501029 | KCNT1 | c.1208A>G (p.Tyr403Cys) c.1049A>G (p.Tyr350Cys) c.956A>G (p.Tyr319Cys) c.965A>G (p.Tyr322Cys) c.1109A>G (p.Tyr370Cys) c.*818A>G (n.*818A>G) c.1091A>G (p.Tyr364Cys) c.1151A>G (p.Tyr384Cys) n.1027A>G c.1073A>G (p.Tyr358Cys) c.1343A>G (p.Tyr448Cys) c.1352A>G (p.Tyr451Cys) c.698A>G (p.Tyr233Cys) c.1142A>G (p.Tyr381Cys) | ClinVar dbSNP |
9 | g.135765631A>T | CA375501031 | KCNT1 | c.1208A>T (p.Tyr403Phe) c.1049A>T (p.Tyr350Phe) c.956A>T (p.Tyr319Phe) c.965A>T (p.Tyr322Phe) c.1109A>T (p.Tyr370Phe) c.*818A>T (n.*818A>T) c.1091A>T (p.Tyr364Phe) c.1151A>T (p.Tyr384Phe) n.1027A>T c.1073A>T (p.Tyr358Phe) c.1343A>T (p.Tyr448Phe) c.1352A>T (p.Tyr451Phe) c.698A>T (p.Tyr233Phe) c.1142A>T (p.Tyr381Phe) | |
9 | g.135765632C>A | CA375501035 | KCNT1 | c.1209C>A (p.Tyr403Ter) c.1050C>A (p.Tyr350Ter) c.957C>A (p.Tyr319Ter) c.966C>A (p.Tyr322Ter) c.1110C>A (p.Tyr370Ter) c.*819C>A (n.*819C>A) c.1092C>A (p.Tyr364Ter) c.1152C>A (p.Tyr384Ter) n.1028C>A c.1074C>A (p.Tyr358Ter) c.1344C>A (p.Tyr448Ter) c.1353C>A (p.Tyr451Ter) c.699C>A (p.Tyr233Ter) c.1143C>A (p.Tyr381Ter) | |
9 | g.135765632C= | CA1883866661 | KCNT1 | c.1209C= (p.Tyr403=) c.1050C= (p.Tyr350=) c.957C= (p.Tyr319=) c.966C= (p.Tyr322=) c.1110C= (p.Tyr370=) c.*819C= (n.*819C=) c.1092C= (p.Tyr364=) c.1152C= (p.Tyr384=) n.1028C= c.1074C= (p.Tyr358=) c.1344C= (p.Tyr448=) c.1353C= (p.Tyr451=) c.699C= (p.Tyr233=) c.1143C= (p.Tyr381=) | |
9 | g.135765632C>G | CA375501037 | KCNT1 | c.1209C>G (p.Tyr403Ter) c.1050C>G (p.Tyr350Ter) c.957C>G (p.Tyr319Ter) c.966C>G (p.Tyr322Ter) c.1110C>G (p.Tyr370Ter) c.*819C>G (n.*819C>G) c.1092C>G (p.Tyr364Ter) c.1152C>G (p.Tyr384Ter) n.1028C>G c.1074C>G (p.Tyr358Ter) c.1344C>G (p.Tyr448Ter) c.1353C>G (p.Tyr451Ter) c.699C>G (p.Tyr233Ter) c.1143C>G (p.Tyr381Ter) | |
9 | g.135765632C>T | CA5326827 | KCNT1 | c.1209C>T (p.Tyr403=) c.1050C>T (p.Tyr350=) c.957C>T (p.Tyr319=) c.966C>T (p.Tyr322=) c.1110C>T (p.Tyr370=) c.*819C>T (n.*819C>T) c.1092C>T (p.Tyr364=) c.1152C>T (p.Tyr384=) n.1028C>T c.1074C>T (p.Tyr358=) c.1344C>T (p.Tyr448=) c.1353C>T (p.Tyr451=) c.699C>T (p.Tyr233=) c.1143C>T (p.Tyr381=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135765633G>A | CA5326828 | KCNT1 | c.1210G>A (p.Val404Met) c.1051G>A (p.Val351Met) c.958G>A (p.Val320Met) c.967G>A (p.Val323Met) c.1111G>A (p.Val371Met) c.*820G>A (n.*820G>A) c.1093G>A (p.Val365Met) c.1153G>A (p.Val385Met) n.1029G>A c.1075G>A (p.Val359Met) c.1345G>A (p.Val449Met) c.1354G>A (p.Val452Met) c.700G>A (p.Val234Met) c.1144G>A (p.Val382Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.135765633G>C | CA375501045 | KCNT1 | c.1210G>C (p.Val404Leu) c.1051G>C (p.Val351Leu) c.958G>C (p.Val320Leu) c.967G>C (p.Val323Leu) c.1111G>C (p.Val371Leu) c.*820G>C (n.*820G>C) c.1093G>C (p.Val365Leu) c.1153G>C (p.Val385Leu) n.1029G>C c.1075G>C (p.Val359Leu) c.1345G>C (p.Val449Leu) c.1354G>C (p.Val452Leu) c.700G>C (p.Val234Leu) c.1144G>C (p.Val382Leu) | |
9 | g.135765633G= | CA1883866662 | KCNT1 | c.1210G= (p.Val404=) c.1051G= (p.Val351=) c.958G= (p.Val320=) c.967G= (p.Val323=) c.1111G= (p.Val371=) c.*820G= (n.*820G=) c.1093G= (p.Val365=) c.1153G= (p.Val385=) n.1029G= c.1075G= (p.Val359=) c.1345G= (p.Val449=) c.1354G= (p.Val452=) c.700G= (p.Val234=) c.1144G= (p.Val382=) | |
9 | g.135765633G>T | CA375501042 | KCNT1 | c.1210G>T (p.Val404Leu) c.1051G>T (p.Val351Leu) c.958G>T (p.Val320Leu) c.967G>T (p.Val323Leu) c.1111G>T (p.Val371Leu) c.*820G>T (n.*820G>T) c.1093G>T (p.Val365Leu) c.1153G>T (p.Val385Leu) n.1029G>T c.1075G>T (p.Val359Leu) c.1345G>T (p.Val449Leu) c.1354G>T (p.Val452Leu) c.700G>T (p.Val234Leu) c.1144G>T (p.Val382Leu) | gnomAD v4 |
9 | g.135765634T>A | CA375501050 | KCNT1 | c.1211T>A (p.Val404Glu) c.1052T>A (p.Val351Glu) c.959T>A (p.Val320Glu) c.968T>A (p.Val323Glu) c.1112T>A (p.Val371Glu) c.*821T>A (n.*821T>A) c.1094T>A (p.Val365Glu) c.1154T>A (p.Val385Glu) n.1030T>A c.1076T>A (p.Val359Glu) c.1346T>A (p.Val449Glu) c.1355T>A (p.Val452Glu) c.701T>A (p.Val234Glu) c.1145T>A (p.Val382Glu) | |
9 | g.135765634T>C | CA375501065 | KCNT1 | c.1211T>C (p.Val404Ala) c.1052T>C (p.Val351Ala) c.959T>C (p.Val320Ala) c.968T>C (p.Val323Ala) c.1112T>C (p.Val371Ala) c.*821T>C (n.*821T>C) c.1094T>C (p.Val365Ala) c.1154T>C (p.Val385Ala) n.1030T>C c.1076T>C (p.Val359Ala) c.1346T>C (p.Val449Ala) c.1355T>C (p.Val452Ala) c.701T>C (p.Val234Ala) c.1145T>C (p.Val382Ala) | gnomAD v4 |
9 | g.135765634T>G | CA375501054 | KCNT1 | c.1211T>G (p.Val404Gly) c.1052T>G (p.Val351Gly) c.959T>G (p.Val320Gly) c.968T>G (p.Val323Gly) c.1112T>G (p.Val371Gly) c.*821T>G (n.*821T>G) c.1094T>G (p.Val365Gly) c.1154T>G (p.Val385Gly) n.1030T>G c.1076T>G (p.Val359Gly) c.1346T>G (p.Val449Gly) c.1355T>G (p.Val452Gly) c.701T>G (p.Val234Gly) c.1145T>G (p.Val382Gly) | |
9 | g.135765635G>A | CA467698124 | KCNT1 | c.1212G>A (p.Val404=) c.1053G>A (p.Val351=) c.960G>A (p.Val320=) c.969G>A (p.Val323=) c.1113G>A (p.Val371=) c.*822G>A (n.*822G>A) c.1095G>A (p.Val365=) c.1155G>A (p.Val385=) n.1031G>A c.1077G>A (p.Val359=) c.1347G>A (p.Val449=) c.1356G>A (p.Val452=) c.702G>A (p.Val234=) c.1146G>A (p.Val382=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135765635G>C | CA467698125 | KCNT1 | c.1212G>C (p.Val404=) c.1053G>C (p.Val351=) c.960G>C (p.Val320=) c.969G>C (p.Val323=) c.1113G>C (p.Val371=) c.*822G>C (n.*822G>C) c.1095G>C (p.Val365=) c.1155G>C (p.Val385=) n.1031G>C c.1077G>C (p.Val359=) c.1347G>C (p.Val449=) c.1356G>C (p.Val452=) c.702G>C (p.Val234=) c.1146G>C (p.Val382=) | |
9 | g.135765635G= | CA1883866663 | KCNT1 | c.1212G= (p.Val404=) c.1053G= (p.Val351=) c.960G= (p.Val320=) c.969G= (p.Val323=) c.1113G= (p.Val371=) c.*822G= (n.*822G=) c.1095G= (p.Val365=) c.1155G= (p.Val385=) n.1031G= c.1077G= (p.Val359=) c.1347G= (p.Val449=) c.1356G= (p.Val452=) c.702G= (p.Val234=) c.1146G= (p.Val382=) | |
9 | g.135765635G>T | CA467698126 | KCNT1 | c.1212G>T (p.Val404=) c.1053G>T (p.Val351=) c.960G>T (p.Val320=) c.969G>T (p.Val323=) c.1113G>T (p.Val371=) c.*822G>T (n.*822G>T) c.1095G>T (p.Val365=) c.1155G>T (p.Val385=) n.1031G>T c.1077G>T (p.Val359=) c.1347G>T (p.Val449=) c.1356G>T (p.Val452=) c.702G>T (p.Val234=) c.1146G>T (p.Val382=) | |
9 | g.135765636G>A | CA375501069 | KCNT1 | c.1213G>A (p.Val405Ile) c.1054G>A (p.Val352Ile) c.961G>A (p.Val321Ile) c.970G>A (p.Val324Ile) c.1114G>A (p.Val372Ile) c.*823G>A (n.*823G>A) c.1096G>A (p.Val366Ile) c.1156G>A (p.Val386Ile) n.1032G>A c.1078G>A (p.Val360Ile) c.1348G>A (p.Val450Ile) c.1357G>A (p.Val453Ile) c.703G>A (p.Val235Ile) c.1147G>A (p.Val383Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135765636G>C | CA375501070 | KCNT1 | c.1213G>C (p.Val405Leu) c.1054G>C (p.Val352Leu) c.961G>C (p.Val321Leu) c.970G>C (p.Val324Leu) c.1114G>C (p.Val372Leu) c.*823G>C (n.*823G>C) c.1096G>C (p.Val366Leu) c.1156G>C (p.Val386Leu) n.1032G>C c.1078G>C (p.Val360Leu) c.1348G>C (p.Val450Leu) c.1357G>C (p.Val453Leu) c.703G>C (p.Val235Leu) c.1147G>C (p.Val383Leu) | |
9 | g.135765636G= | CA1883866664 | KCNT1 | c.1213G= (p.Val405=) c.1054G= (p.Val352=) c.961G= (p.Val321=) c.970G= (p.Val324=) c.1114G= (p.Val372=) c.*823G= (n.*823G=) c.1096G= (p.Val366=) c.1156G= (p.Val386=) n.1032G= c.1078G= (p.Val360=) c.1348G= (p.Val450=) c.1357G= (p.Val453=) c.703G= (p.Val235=) c.1147G= (p.Val383=) | |
9 | g.135765636G>T | CA375501073 | KCNT1 | c.1213G>T (p.Val405Phe) c.1054G>T (p.Val352Phe) c.961G>T (p.Val321Phe) c.970G>T (p.Val324Phe) c.1114G>T (p.Val372Phe) c.*823G>T (n.*823G>T) c.1096G>T (p.Val366Phe) c.1156G>T (p.Val386Phe) n.1032G>T c.1078G>T (p.Val360Phe) c.1348G>T (p.Val450Phe) c.1357G>T (p.Val453Phe) c.703G>T (p.Val235Phe) c.1147G>T (p.Val383Phe) | |
9 | g.135765637T>A | CA375501076 | KCNT1 | c.1214T>A (p.Val405Asp) c.1055T>A (p.Val352Asp) c.962T>A (p.Val321Asp) c.971T>A (p.Val324Asp) c.1115T>A (p.Val372Asp) c.*824T>A (n.*824T>A) c.1097T>A (p.Val366Asp) c.1157T>A (p.Val386Asp) n.1033T>A c.1079T>A (p.Val360Asp) c.1349T>A (p.Val450Asp) c.1358T>A (p.Val453Asp) c.704T>A (p.Val235Asp) c.1148T>A (p.Val383Asp) | |
9 | g.135765637T>C | CA375501079 | KCNT1 | c.1214T>C (p.Val405Ala) c.1055T>C (p.Val352Ala) c.962T>C (p.Val321Ala) c.971T>C (p.Val324Ala) c.1115T>C (p.Val372Ala) c.*824T>C (n.*824T>C) c.1097T>C (p.Val366Ala) c.1157T>C (p.Val386Ala) n.1033T>C c.1079T>C (p.Val360Ala) c.1349T>C (p.Val450Ala) c.1358T>C (p.Val453Ala) c.704T>C (p.Val235Ala) c.1148T>C (p.Val383Ala) | |
9 | g.135765637T>G | CA375501084 | KCNT1 | c.1214T>G (p.Val405Gly) c.1055T>G (p.Val352Gly) c.962T>G (p.Val321Gly) c.971T>G (p.Val324Gly) c.1115T>G (p.Val372Gly) c.*824T>G (n.*824T>G) c.1097T>G (p.Val366Gly) c.1157T>G (p.Val386Gly) n.1033T>G c.1079T>G (p.Val360Gly) c.1349T>G (p.Val450Gly) c.1358T>G (p.Val453Gly) c.704T>G (p.Val235Gly) c.1148T>G (p.Val383Gly) | |
9 | g.135765638C>A | CA467698127 | KCNT1 | c.1215C>A (p.Val405=) c.1056C>A (p.Val352=) c.963C>A (p.Val321=) c.972C>A (p.Val324=) c.1116C>A (p.Val372=) c.*825C>A (n.*825C>A) c.1098C>A (p.Val366=) c.1158C>A (p.Val386=) n.1034C>A c.1080C>A (p.Val360=) c.1350C>A (p.Val450=) c.1359C>A (p.Val453=) c.705C>A (p.Val235=) c.1149C>A (p.Val383=) | ClinVar gnomAD v4 |
9 | g.135765638C= | CA1883866665 | KCNT1 | c.1215C= (p.Val405=) c.1056C= (p.Val352=) c.963C= (p.Val321=) c.972C= (p.Val324=) c.1116C= (p.Val372=) c.*825C= (n.*825C=) c.1098C= (p.Val366=) c.1158C= (p.Val386=) n.1034C= c.1080C= (p.Val360=) c.1350C= (p.Val450=) c.1359C= (p.Val453=) c.705C= (p.Val235=) c.1149C= (p.Val383=) | |
9 | g.135765638C>G | CA467698128 | KCNT1 | c.1215C>G (p.Val405=) c.1056C>G (p.Val352=) c.963C>G (p.Val321=) c.972C>G (p.Val324=) c.1116C>G (p.Val372=) c.*825C>G (n.*825C>G) c.1098C>G (p.Val366=) c.1158C>G (p.Val386=) n.1034C>G c.1080C>G (p.Val360=) c.1350C>G (p.Val450=) c.1359C>G (p.Val453=) c.705C>G (p.Val235=) c.1149C>G (p.Val383=) | |
9 | g.135765638C>T | CA467698129 | KCNT1 | c.1215C>T (p.Val405=) c.1056C>T (p.Val352=) c.963C>T (p.Val321=) c.972C>T (p.Val324=) c.1116C>T (p.Val372=) c.*825C>T (n.*825C>T) c.1098C>T (p.Val366=) c.1158C>T (p.Val386=) n.1034C>T c.1080C>T (p.Val360=) c.1350C>T (p.Val450=) c.1359C>T (p.Val453=) c.705C>T (p.Val235=) c.1149C>T (p.Val383=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135765639A= | CA1883866666 | KCNT1 | c.1216A= (p.Ile406=) c.1057A= (p.Ile353=) c.964A= (p.Ile322=) c.973A= (p.Ile325=) c.1117A= (p.Ile373=) c.*826A= (n.*826A=) c.1099A= (p.Ile367=) c.1159A= (p.Ile387=) n.1035A= c.1081A= (p.Ile361=) c.1351A= (p.Ile451=) c.1360A= (p.Ile454=) c.706A= (p.Ile236=) c.1150A= (p.Ile384=) | |
9 | g.135765639A>C | CA375501086 | KCNT1 | c.1216A>C (p.Ile406Leu) c.1057A>C (p.Ile353Leu) c.964A>C (p.Ile322Leu) c.973A>C (p.Ile325Leu) c.1117A>C (p.Ile373Leu) c.*826A>C (n.*826A>C) c.1099A>C (p.Ile367Leu) c.1159A>C (p.Ile387Leu) n.1035A>C c.1081A>C (p.Ile361Leu) c.1351A>C (p.Ile451Leu) c.1360A>C (p.Ile454Leu) c.706A>C (p.Ile236Leu) c.1150A>C (p.Ile384Leu) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135765639A>G | CA375501088 | KCNT1 | c.1216A>G (p.Ile406Val) c.1057A>G (p.Ile353Val) c.964A>G (p.Ile322Val) c.973A>G (p.Ile325Val) c.1117A>G (p.Ile373Val) c.*826A>G (n.*826A>G) c.1099A>G (p.Ile367Val) c.1159A>G (p.Ile387Val) n.1035A>G c.1081A>G (p.Ile361Val) c.1351A>G (p.Ile451Val) c.1360A>G (p.Ile454Val) c.706A>G (p.Ile236Val) c.1150A>G (p.Ile384Val) | |
9 | g.135765639A>T | CA375501090 | KCNT1 | c.1216A>T (p.Ile406Phe) c.1057A>T (p.Ile353Phe) c.964A>T (p.Ile322Phe) c.973A>T (p.Ile325Phe) c.1117A>T (p.Ile373Phe) c.*826A>T (n.*826A>T) c.1099A>T (p.Ile367Phe) c.1159A>T (p.Ile387Phe) n.1035A>T c.1081A>T (p.Ile361Phe) c.1351A>T (p.Ile451Phe) c.1360A>T (p.Ile454Phe) c.706A>T (p.Ile236Phe) c.1150A>T (p.Ile384Phe) | |
9 | g.135765640T>A | CA375501094 | KCNT1 | c.1217T>A (p.Ile406Asn) c.1058T>A (p.Ile353Asn) c.965T>A (p.Ile322Asn) c.974T>A (p.Ile325Asn) c.1118T>A (p.Ile373Asn) c.*827T>A (n.*827T>A) c.1100T>A (p.Ile367Asn) c.1160T>A (p.Ile387Asn) n.1036T>A c.1082T>A (p.Ile361Asn) c.1352T>A (p.Ile451Asn) c.1361T>A (p.Ile454Asn) c.707T>A (p.Ile236Asn) c.1151T>A (p.Ile384Asn) | |
9 | g.135765640T>C | CA375501096 | KCNT1 | c.1217T>C (p.Ile406Thr) c.1058T>C (p.Ile353Thr) c.965T>C (p.Ile322Thr) c.974T>C (p.Ile325Thr) c.1118T>C (p.Ile373Thr) c.*827T>C (n.*827T>C) c.1100T>C (p.Ile367Thr) c.1160T>C (p.Ile387Thr) n.1036T>C c.1082T>C (p.Ile361Thr) c.1352T>C (p.Ile451Thr) c.1361T>C (p.Ile454Thr) c.707T>C (p.Ile236Thr) c.1151T>C (p.Ile384Thr) | |
9 | g.135765640T>G | CA375501103 | KCNT1 | c.1217T>G (p.Ile406Ser) c.1058T>G (p.Ile353Ser) c.965T>G (p.Ile322Ser) c.974T>G (p.Ile325Ser) c.1118T>G (p.Ile373Ser) c.*827T>G (n.*827T>G) c.1100T>G (p.Ile367Ser) c.1160T>G (p.Ile387Ser) n.1036T>G c.1082T>G (p.Ile361Ser) c.1352T>G (p.Ile451Ser) c.1361T>G (p.Ile454Ser) c.707T>G (p.Ile236Ser) c.1151T>G (p.Ile384Ser) | |
9 | g.135765641C>A | CA467698130 | KCNT1 | c.1218C>A (p.Ile406=) c.1059C>A (p.Ile353=) c.966C>A (p.Ile322=) c.975C>A (p.Ile325=) c.1119C>A (p.Ile373=) c.*828C>A (n.*828C>A) c.1101C>A (p.Ile367=) c.1161C>A (p.Ile387=) n.1037C>A c.1083C>A (p.Ile361=) c.1353C>A (p.Ile451=) c.1362C>A (p.Ile454=) c.708C>A (p.Ile236=) c.1152C>A (p.Ile384=) | gnomAD v4 |
9 | g.135765641C= | CA1883866667 | KCNT1 | c.1218C= (p.Ile406=) c.1059C= (p.Ile353=) c.966C= (p.Ile322=) c.975C= (p.Ile325=) c.1119C= (p.Ile373=) c.*828C= (n.*828C=) c.1101C= (p.Ile367=) c.1161C= (p.Ile387=) n.1037C= c.1083C= (p.Ile361=) c.1353C= (p.Ile451=) c.1362C= (p.Ile454=) c.708C= (p.Ile236=) c.1152C= (p.Ile384=) | |
9 | g.135765641C>G | CA375501107 | KCNT1 | c.1218C>G (p.Ile406Met) c.1059C>G (p.Ile353Met) c.966C>G (p.Ile322Met) c.975C>G (p.Ile325Met) c.1119C>G (p.Ile373Met) c.*828C>G (n.*828C>G) c.1101C>G (p.Ile367Met) c.1161C>G (p.Ile387Met) n.1037C>G c.1083C>G (p.Ile361Met) c.1353C>G (p.Ile451Met) c.1362C>G (p.Ile454Met) c.708C>G (p.Ile236Met) c.1152C>G (p.Ile384Met) | |
9 | g.135765641C>T | CA5326829 | KCNT1 | c.1218C>T (p.Ile406=) c.1059C>T (p.Ile353=) c.966C>T (p.Ile322=) c.975C>T (p.Ile325=) c.1119C>T (p.Ile373=) c.*828C>T (n.*828C>T) c.1101C>T (p.Ile367=) c.1161C>T (p.Ile387=) n.1037C>T c.1083C>T (p.Ile361=) c.1353C>T (p.Ile451=) c.1362C>T (p.Ile454=) c.708C>T (p.Ile236=) c.1152C>T (p.Ile384=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.135765642C>A | CA375501110 | KCNT1 | c.1219C>A (p.Leu407Met) c.1060C>A (p.Leu354Met) c.967C>A (p.Leu323Met) c.976C>A (p.Leu326Met) c.1120C>A (p.Leu374Met) c.*829C>A (n.*829C>A) c.1102C>A (p.Leu368Met) c.1162C>A (p.Leu388Met) n.1038C>A c.1084C>A (p.Leu362Met) c.1354C>A (p.Leu452Met) c.1363C>A (p.Leu455Met) c.709C>A (p.Leu237Met) c.1153C>A (p.Leu385Met) | gnomAD v4 |
9 | g.135765642C>G | CA375501113 | KCNT1 | c.1219C>G (p.Leu407Val) c.1060C>G (p.Leu354Val) c.967C>G (p.Leu323Val) c.976C>G (p.Leu326Val) c.1120C>G (p.Leu374Val) c.*829C>G (n.*829C>G) c.1102C>G (p.Leu368Val) c.1162C>G (p.Leu388Val) n.1038C>G c.1084C>G (p.Leu362Val) c.1354C>G (p.Leu452Val) c.1363C>G (p.Leu455Val) c.709C>G (p.Leu237Val) c.1153C>G (p.Leu385Val) | |
9 | g.135765642C>T | CA467698131 | KCNT1 | c.1219C>T (p.Leu407=) c.1060C>T (p.Leu354=) c.967C>T (p.Leu323=) c.976C>T (p.Leu326=) c.1120C>T (p.Leu374=) c.*829C>T (n.*829C>T) c.1102C>T (p.Leu368=) c.1162C>T (p.Leu388=) n.1038C>T c.1084C>T (p.Leu362=) c.1354C>T (p.Leu452=) c.1363C>T (p.Leu455=) c.709C>T (p.Leu237=) c.1153C>T (p.Leu385=) | |
9 | g.135765643T>A | CA375501115 | KCNT1 | c.1220T>A (p.Leu407Gln) c.1061T>A (p.Leu354Gln) c.968T>A (p.Leu323Gln) c.977T>A (p.Leu326Gln) c.1121T>A (p.Leu374Gln) c.*830T>A (n.*830T>A) c.1103T>A (p.Leu368Gln) c.1163T>A (p.Leu388Gln) n.1039T>A c.1085T>A (p.Leu362Gln) c.1355T>A (p.Leu452Gln) c.1364T>A (p.Leu455Gln) c.710T>A (p.Leu237Gln) c.1154T>A (p.Leu385Gln) | |
9 | g.135765643T>C | CA375501118 | KCNT1 | c.1220T>C (p.Leu407Pro) c.1061T>C (p.Leu354Pro) c.968T>C (p.Leu323Pro) c.977T>C (p.Leu326Pro) c.1121T>C (p.Leu374Pro) c.*830T>C (n.*830T>C) c.1103T>C (p.Leu368Pro) c.1163T>C (p.Leu388Pro) n.1039T>C c.1085T>C (p.Leu362Pro) c.1355T>C (p.Leu452Pro) c.1364T>C (p.Leu455Pro) c.710T>C (p.Leu237Pro) c.1154T>C (p.Leu385Pro) | |
9 | g.135765643T>G | CA375501120 | KCNT1 | c.1220T>G (p.Leu407Arg) c.1061T>G (p.Leu354Arg) c.968T>G (p.Leu323Arg) c.977T>G (p.Leu326Arg) c.1121T>G (p.Leu374Arg) c.*830T>G (n.*830T>G) c.1103T>G (p.Leu368Arg) c.1163T>G (p.Leu388Arg) n.1039T>G c.1085T>G (p.Leu362Arg) c.1355T>G (p.Leu452Arg) c.1364T>G (p.Leu455Arg) c.710T>G (p.Leu237Arg) c.1154T>G (p.Leu385Arg) | |
9 | g.135765644G>A | CA5326830 | KCNT1 | c.1221G>A (p.Leu407=) c.1062G>A (p.Leu354=) c.969G>A (p.Leu323=) c.978G>A (p.Leu326=) c.1122G>A (p.Leu374=) c.*831G>A (n.*831G>A) c.1104G>A (p.Leu368=) c.1164G>A (p.Leu388=) n.1040G>A c.1086G>A (p.Leu362=) c.1356G>A (p.Leu452=) c.1365G>A (p.Leu455=) c.711G>A (p.Leu237=) c.1155G>A (p.Leu385=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135765644G>C | CA467698133 | KCNT1 | c.1221G>C (p.Leu407=) c.1062G>C (p.Leu354=) c.969G>C (p.Leu323=) c.978G>C (p.Leu326=) c.1122G>C (p.Leu374=) c.*831G>C (n.*831G>C) c.1104G>C (p.Leu368=) c.1164G>C (p.Leu388=) n.1040G>C c.1086G>C (p.Leu362=) c.1356G>C (p.Leu452=) c.1365G>C (p.Leu455=) c.711G>C (p.Leu237=) c.1155G>C (p.Leu385=) | |
9 | g.135765644G= | CA1883866668 | KCNT1 | c.1221G= (p.Leu407=) c.1062G= (p.Leu354=) c.969G= (p.Leu323=) c.978G= (p.Leu326=) c.1122G= (p.Leu374=) c.*831G= (n.*831G=) c.1104G= (p.Leu368=) c.1164G= (p.Leu388=) n.1040G= c.1086G= (p.Leu362=) c.1356G= (p.Leu452=) c.1365G= (p.Leu455=) c.711G= (p.Leu237=) c.1155G= (p.Leu385=) | |
9 | g.135765644G>T | CA467698132 | KCNT1 | c.1221G>T (p.Leu407=) c.1062G>T (p.Leu354=) c.969G>T (p.Leu323=) c.978G>T (p.Leu326=) c.1122G>T (p.Leu374=) c.*831G>T (n.*831G>T) c.1104G>T (p.Leu368=) c.1164G>T (p.Leu388=) n.1040G>T c.1086G>T (p.Leu362=) c.1356G>T (p.Leu452=) c.1365G>T (p.Leu455=) c.711G>T (p.Leu237=) c.1155G>T (p.Leu385=) | |
9 | g.135765645T>A | CA375501132 | KCNT1 | c.1222T>A (p.Cys408Ser) c.1063T>A (p.Cys355Ser) c.970T>A (p.Cys324Ser) c.979T>A (p.Cys327Ser) c.1123T>A (p.Cys375Ser) c.*832T>A (n.*832T>A) c.1105T>A (p.Cys369Ser) c.1165T>A (p.Cys389Ser) n.1041T>A c.1087T>A (p.Cys363Ser) c.1357T>A (p.Cys453Ser) c.1366T>A (p.Cys456Ser) c.712T>A (p.Cys238Ser) c.1156T>A (p.Cys386Ser) | |
9 | g.135765645T>C | CA375501127 | KCNT1 | c.1222T>C (p.Cys408Arg) c.1063T>C (p.Cys355Arg) c.970T>C (p.Cys324Arg) c.979T>C (p.Cys327Arg) c.1123T>C (p.Cys375Arg) c.*832T>C (n.*832T>C) c.1105T>C (p.Cys369Arg) c.1165T>C (p.Cys389Arg) n.1041T>C c.1087T>C (p.Cys363Arg) c.1357T>C (p.Cys453Arg) c.1366T>C (p.Cys456Arg) c.712T>C (p.Cys238Arg) c.1156T>C (p.Cys386Arg) | |
9 | g.135765645T>G | CA375501129 | KCNT1 | c.1222T>G (p.Cys408Gly) c.1063T>G (p.Cys355Gly) c.970T>G (p.Cys324Gly) c.979T>G (p.Cys327Gly) c.1123T>G (p.Cys375Gly) c.*832T>G (n.*832T>G) c.1105T>G (p.Cys369Gly) c.1165T>G (p.Cys389Gly) n.1041T>G c.1087T>G (p.Cys363Gly) c.1357T>G (p.Cys453Gly) c.1366T>G (p.Cys456Gly) c.712T>G (p.Cys238Gly) c.1156T>G (p.Cys386Gly) | |
9 | g.135765646G>A | CA375501135 | KCNT1 | c.1223G>A (p.Cys408Tyr) c.1064G>A (p.Cys355Tyr) c.971G>A (p.Cys324Tyr) c.980G>A (p.Cys327Tyr) c.1124G>A (p.Cys375Tyr) c.*833G>A (n.*833G>A) c.1106G>A (p.Cys369Tyr) c.1166G>A (p.Cys389Tyr) n.1042G>A c.1088G>A (p.Cys363Tyr) c.1358G>A (p.Cys453Tyr) c.1367G>A (p.Cys456Tyr) c.713G>A (p.Cys238Tyr) c.1157G>A (p.Cys386Tyr) | ClinVar |
9 | g.135765646G>C | CA375501141 | KCNT1 | c.1223G>C (p.Cys408Ser) c.1064G>C (p.Cys355Ser) c.971G>C (p.Cys324Ser) c.980G>C (p.Cys327Ser) c.1124G>C (p.Cys375Ser) c.*833G>C (n.*833G>C) c.1106G>C (p.Cys369Ser) c.1166G>C (p.Cys389Ser) n.1042G>C c.1088G>C (p.Cys363Ser) c.1358G>C (p.Cys453Ser) c.1367G>C (p.Cys456Ser) c.713G>C (p.Cys238Ser) c.1157G>C (p.Cys386Ser) | |
9 | g.135765646G>T | CA375501145 | KCNT1 | c.1223G>T (p.Cys408Phe) c.1064G>T (p.Cys355Phe) c.971G>T (p.Cys324Phe) c.980G>T (p.Cys327Phe) c.1124G>T (p.Cys375Phe) c.*833G>T (n.*833G>T) c.1106G>T (p.Cys369Phe) c.1166G>T (p.Cys389Phe) n.1042G>T c.1088G>T (p.Cys363Phe) c.1358G>T (p.Cys453Phe) c.1367G>T (p.Cys456Phe) c.713G>T (p.Cys238Phe) c.1157G>T (p.Cys386Phe) | |
9 | g.135765647C>A | CA375501149 | KCNT1 | c.1224C>A (p.Cys408Ter) c.1065C>A (p.Cys355Ter) c.972C>A (p.Cys324Ter) c.981C>A (p.Cys327Ter) c.1125C>A (p.Cys375Ter) c.*834C>A (n.*834C>A) c.1107C>A (p.Cys369Ter) c.1167C>A (p.Cys389Ter) n.1043C>A c.1089C>A (p.Cys363Ter) c.1359C>A (p.Cys453Ter) c.1368C>A (p.Cys456Ter) c.714C>A (p.Cys238Ter) c.1158C>A (p.Cys386Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.135765647C= | CA1883866669 | KCNT1 | c.1224C= (p.Cys408=) c.1065C= (p.Cys355=) c.972C= (p.Cys324=) c.981C= (p.Cys327=) c.1125C= (p.Cys375=) c.*834C= (n.*834C=) c.1107C= (p.Cys369=) c.1167C= (p.Cys389=) n.1043C= c.1089C= (p.Cys363=) c.1359C= (p.Cys453=) c.1368C= (p.Cys456=) c.714C= (p.Cys238=) c.1158C= (p.Cys386=) | |
9 | g.135765647C>G | CA375501153 | KCNT1 | c.1224C>G (p.Cys408Trp) c.1065C>G (p.Cys355Trp) c.972C>G (p.Cys324Trp) c.981C>G (p.Cys327Trp) c.1125C>G (p.Cys375Trp) c.*834C>G (n.*834C>G) c.1107C>G (p.Cys369Trp) c.1167C>G (p.Cys389Trp) n.1043C>G c.1089C>G (p.Cys363Trp) c.1359C>G (p.Cys453Trp) c.1368C>G (p.Cys456Trp) c.714C>G (p.Cys238Trp) c.1158C>G (p.Cys386Trp) | |
9 | g.135765647C>T | CA467698134 | KCNT1 | c.1224C>T (p.Cys408=) c.1065C>T (p.Cys355=) c.972C>T (p.Cys324=) c.981C>T (p.Cys327=) c.1125C>T (p.Cys375=) c.*834C>T (n.*834C>T) c.1107C>T (p.Cys369=) c.1167C>T (p.Cys389=) n.1043C>T c.1089C>T (p.Cys363=) c.1359C>T (p.Cys453=) c.1368C>T (p.Cys456=) c.714C>T (p.Cys238=) c.1158C>T (p.Cys386=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135765649_135765650del | CA2720685277 | KCNT1 | c.1226_1227del (p.Pro409HisfsTer?) c.1067_1068del (p.Pro356HisfsTer?) c.974_975del (p.Pro325HisfsTer?) c.983_984del (p.Pro328HisfsTer?) c.1127_1128del (p.Pro376HisfsTer?) c.*836_*837del (n.*836_*837del) c.1109_1110del (p.Pro370HisfsTer?) c.1169_1170del (p.Pro390HisfsTer?) n.1045_1046del c.1091_1092del (p.Pro364HisfsTer?) c.1361_1362del (p.Pro454HisfsTer?) c.1370_1371del (p.Pro457HisfsTer?) c.716_717del (p.Pro239HisfsTer?) c.1160_1161del (p.Pro387HisfsTer?) | dbSNP |
9 | g.135765648C>A | CA375501171 | KCNT1 | c.1225C>A (p.Pro409Thr) c.1066C>A (p.Pro356Thr) c.973C>A (p.Pro325Thr) c.982C>A (p.Pro328Thr) c.1126C>A (p.Pro376Thr) c.*835C>A (n.*835C>A) c.1108C>A (p.Pro370Thr) c.1168C>A (p.Pro390Thr) n.1044C>A c.1090C>A (p.Pro364Thr) c.1360C>A (p.Pro454Thr) c.1369C>A (p.Pro457Thr) c.715C>A (p.Pro239Thr) c.1159C>A (p.Pro387Thr) | |
9 | g.135765648C= | CA1883866670 | KCNT1 | c.1225C= (p.Pro409=) c.1066C= (p.Pro356=) c.973C= (p.Pro325=) c.982C= (p.Pro328=) c.1126C= (p.Pro376=) c.*835C= (n.*835C=) c.1108C= (p.Pro370=) c.1168C= (p.Pro390=) n.1044C= c.1090C= (p.Pro364=) c.1360C= (p.Pro454=) c.1369C= (p.Pro457=) c.715C= (p.Pro239=) c.1159C= (p.Pro387=) | |
9 | g.135765648C>G | CA375501176 | KCNT1 | c.1225C>G (p.Pro409Ala) c.1066C>G (p.Pro356Ala) c.973C>G (p.Pro325Ala) c.982C>G (p.Pro328Ala) c.1126C>G (p.Pro376Ala) c.*835C>G (n.*835C>G) c.1108C>G (p.Pro370Ala) c.1168C>G (p.Pro390Ala) n.1044C>G c.1090C>G (p.Pro364Ala) c.1360C>G (p.Pro454Ala) c.1369C>G (p.Pro457Ala) c.715C>G (p.Pro239Ala) c.1159C>G (p.Pro387Ala) | |
9 | g.135765648C>T | CA375501173 | KCNT1 | c.1225C>T (p.Pro409Ser) c.1066C>T (p.Pro356Ser) c.973C>T (p.Pro325Ser) c.982C>T (p.Pro328Ser) c.1126C>T (p.Pro376Ser) c.*835C>T (n.*835C>T) c.1108C>T (p.Pro370Ser) c.1168C>T (p.Pro390Ser) n.1044C>T c.1090C>T (p.Pro364Ser) c.1360C>T (p.Pro454Ser) c.1369C>T (p.Pro457Ser) c.715C>T (p.Pro239Ser) c.1159C>T (p.Pro387Ser) | ClinVar dbSNP |
9 | g.135765649C>A | CA375501178 | KCNT1 | c.1226C>A (p.Pro409His) c.1067C>A (p.Pro356His) c.974C>A (p.Pro325His) c.983C>A (p.Pro328His) c.1127C>A (p.Pro376His) c.*836C>A (n.*836C>A) c.1109C>A (p.Pro370His) c.1169C>A (p.Pro390His) n.1045C>A c.1091C>A (p.Pro364His) c.1361C>A (p.Pro454His) c.1370C>A (p.Pro457His) c.716C>A (p.Pro239His) c.1160C>A (p.Pro387His) | |
9 | g.135765649C= | CA1883866671 | KCNT1 | c.1226C= (p.Pro409=) c.1067C= (p.Pro356=) c.974C= (p.Pro325=) c.983C= (p.Pro328=) c.1127C= (p.Pro376=) c.*836C= (n.*836C=) c.1109C= (p.Pro370=) c.1169C= (p.Pro390=) n.1045C= c.1091C= (p.Pro364=) c.1361C= (p.Pro454=) c.1370C= (p.Pro457=) c.716C= (p.Pro239=) c.1160C= (p.Pro387=) | |
9 | g.135765649C>G | CA375501181 | KCNT1 | c.1226C>G (p.Pro409Arg) c.1067C>G (p.Pro356Arg) c.974C>G (p.Pro325Arg) c.983C>G (p.Pro328Arg) c.1127C>G (p.Pro376Arg) c.*836C>G (n.*836C>G) c.1109C>G (p.Pro370Arg) c.1169C>G (p.Pro390Arg) n.1045C>G c.1091C>G (p.Pro364Arg) c.1361C>G (p.Pro454Arg) c.1370C>G (p.Pro457Arg) c.716C>G (p.Pro239Arg) c.1160C>G (p.Pro387Arg) | |
9 | g.135765649C>T | CA16618794 | KCNT1 | c.1226C>T (p.Pro409Leu) c.1067C>T (p.Pro356Leu) c.974C>T (p.Pro325Leu) c.983C>T (p.Pro328Leu) c.1127C>T (p.Pro376Leu) c.*836C>T (n.*836C>T) c.1109C>T (p.Pro370Leu) c.1169C>T (p.Pro390Leu) n.1045C>T c.1091C>T (p.Pro364Leu) c.1361C>T (p.Pro454Leu) c.1370C>T (p.Pro457Leu) c.716C>T (p.Pro239Leu) c.1160C>T (p.Pro387Leu) | ClinVar dbSNP gnomAD v4 |
9 | g.135765650C>A | CA467698135 | KCNT1 | c.1227C>A (p.Pro409=) c.1068C>A (p.Pro356=) c.975C>A (p.Pro325=) c.984C>A (p.Pro328=) c.1128C>A (p.Pro376=) c.*837C>A (n.*837C>A) c.1110C>A (p.Pro370=) c.1170C>A (p.Pro390=) n.1046C>A c.1092C>A (p.Pro364=) c.1362C>A (p.Pro454=) c.1371C>A (p.Pro457=) c.717C>A (p.Pro239=) c.1161C>A (p.Pro387=) | gnomAD v4 |
9 | g.135765650C>G | CA467698136 | KCNT1 | c.1227C>G (p.Pro409=) c.1068C>G (p.Pro356=) c.975C>G (p.Pro325=) c.984C>G (p.Pro328=) c.1128C>G (p.Pro376=) c.*837C>G (n.*837C>G) c.1110C>G (p.Pro370=) c.1170C>G (p.Pro390=) n.1046C>G c.1092C>G (p.Pro364=) c.1362C>G (p.Pro454=) c.1371C>G (p.Pro457=) c.717C>G (p.Pro239=) c.1161C>G (p.Pro387=) | |
9 | g.135765650C>T | CA467698137 | KCNT1 | c.1227C>T (p.Pro409=) c.1068C>T (p.Pro356=) c.975C>T (p.Pro325=) c.984C>T (p.Pro328=) c.1128C>T (p.Pro376=) c.*837C>T (n.*837C>T) c.1110C>T (p.Pro370=) c.1170C>T (p.Pro390=) n.1046C>T c.1092C>T (p.Pro364=) c.1362C>T (p.Pro454=) c.1371C>T (p.Pro457=) c.717C>T (p.Pro239=) c.1161C>T (p.Pro387=) | gnomAD v4 |
9 | g.135765651A>C | CA375501186 | KCNT1 | c.1228A>C (p.Thr410Pro) c.1069A>C (p.Thr357Pro) c.976A>C (p.Thr326Pro) c.985A>C (p.Thr329Pro) c.1129A>C (p.Thr377Pro) c.*838A>C (n.*838A>C) c.1111A>C (p.Thr371Pro) c.1171A>C (p.Thr391Pro) n.1047A>C c.1093A>C (p.Thr365Pro) c.1363A>C (p.Thr455Pro) c.1372A>C (p.Thr458Pro) c.718A>C (p.Thr240Pro) c.1162A>C (p.Thr388Pro) | |
9 | g.135765651A>G | CA375501188 | KCNT1 | c.1228A>G (p.Thr410Ala) c.1069A>G (p.Thr357Ala) c.976A>G (p.Thr326Ala) c.985A>G (p.Thr329Ala) c.1129A>G (p.Thr377Ala) c.*838A>G (n.*838A>G) c.1111A>G (p.Thr371Ala) c.1171A>G (p.Thr391Ala) n.1047A>G c.1093A>G (p.Thr365Ala) c.1363A>G (p.Thr455Ala) c.1372A>G (p.Thr458Ala) c.718A>G (p.Thr240Ala) c.1162A>G (p.Thr388Ala) | |
9 | g.135765651A>T | CA375501191 | KCNT1 | c.1228A>T (p.Thr410Ser) c.1069A>T (p.Thr357Ser) c.976A>T (p.Thr326Ser) c.985A>T (p.Thr329Ser) c.1129A>T (p.Thr377Ser) c.*838A>T (n.*838A>T) c.1111A>T (p.Thr371Ser) c.1171A>T (p.Thr391Ser) n.1047A>T c.1093A>T (p.Thr365Ser) c.1363A>T (p.Thr455Ser) c.1372A>T (p.Thr458Ser) c.718A>T (p.Thr240Ser) c.1162A>T (p.Thr388Ser) | |
9 | g.135765652C>A | CA375501194 | KCNT1 | c.1229C>A (p.Thr410Lys) c.1070C>A (p.Thr357Lys) c.977C>A (p.Thr326Lys) c.986C>A (p.Thr329Lys) c.1130C>A (p.Thr377Lys) c.*839C>A (n.*839C>A) c.1112C>A (p.Thr371Lys) c.1172C>A (p.Thr391Lys) n.1048C>A c.1094C>A (p.Thr365Lys) c.1364C>A (p.Thr455Lys) c.1373C>A (p.Thr458Lys) c.719C>A (p.Thr240Lys) c.1163C>A (p.Thr388Lys) | |
9 | g.135765652C= | CA1883866672 | KCNT1 | c.1229C= (p.Thr410=) c.1070C= (p.Thr357=) c.977C= (p.Thr326=) c.986C= (p.Thr329=) c.1130C= (p.Thr377=) c.*839C= (n.*839C=) c.1112C= (p.Thr371=) c.1172C= (p.Thr391=) n.1048C= c.1094C= (p.Thr365=) c.1364C= (p.Thr455=) c.1373C= (p.Thr458=) c.719C= (p.Thr240=) c.1163C= (p.Thr388=) | |
9 | g.135765652C>G | CA375501196 | KCNT1 | c.1229C>G (p.Thr410Arg) c.1070C>G (p.Thr357Arg) c.977C>G (p.Thr326Arg) c.986C>G (p.Thr329Arg) c.1130C>G (p.Thr377Arg) c.*839C>G (n.*839C>G) c.1112C>G (p.Thr371Arg) c.1172C>G (p.Thr391Arg) n.1048C>G c.1094C>G (p.Thr365Arg) c.1364C>G (p.Thr455Arg) c.1373C>G (p.Thr458Arg) c.719C>G (p.Thr240Arg) c.1163C>G (p.Thr388Arg) | dbSNP gnomAD v4 |
9 | g.135765652C>T | CA201465649 | KCNT1 | c.1229C>T (p.Thr410Met) c.1070C>T (p.Thr357Met) c.977C>T (p.Thr326Met) c.986C>T (p.Thr329Met) c.1130C>T (p.Thr377Met) c.*839C>T (n.*839C>T) c.1112C>T (p.Thr371Met) c.1172C>T (p.Thr391Met) n.1048C>T c.1094C>T (p.Thr365Met) c.1364C>T (p.Thr455Met) c.1373C>T (p.Thr458Met) c.719C>T (p.Thr240Met) c.1163C>T (p.Thr388Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.135765653G>A | CA5326831 | KCNT1 | c.1230G>A (p.Thr410=) c.1071G>A (p.Thr357=) c.978G>A (p.Thr326=) c.987G>A (p.Thr329=) c.1131G>A (p.Thr377=) c.*840G>A (n.*840G>A) c.1113G>A (p.Thr371=) c.1173G>A (p.Thr391=) n.1049G>A c.1095G>A (p.Thr365=) c.1365G>A (p.Thr455=) c.1374G>A (p.Thr458=) c.720G>A (p.Thr240=) c.1164G>A (p.Thr388=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.135765653G>C | CA467698138 | KCNT1 | c.1230G>C (p.Thr410=) c.1071G>C (p.Thr357=) c.978G>C (p.Thr326=) c.987G>C (p.Thr329=) c.1131G>C (p.Thr377=) c.*840G>C (n.*840G>C) c.1113G>C (p.Thr371=) c.1173G>C (p.Thr391=) n.1049G>C c.1095G>C (p.Thr365=) c.1365G>C (p.Thr455=) c.1374G>C (p.Thr458=) c.720G>C (p.Thr240=) c.1164G>C (p.Thr388=) | |
9 | g.135765653G= | CA1883866673 | KCNT1 | c.1230G= (p.Thr410=) c.1071G= (p.Thr357=) c.978G= (p.Thr326=) c.987G= (p.Thr329=) c.1131G= (p.Thr377=) c.*840G= (n.*840G=) c.1113G= (p.Thr371=) c.1173G= (p.Thr391=) n.1049G= c.1095G= (p.Thr365=) c.1365G= (p.Thr455=) c.1374G= (p.Thr458=) c.720G= (p.Thr240=) c.1164G= (p.Thr388=) | |
9 | g.135765653G>T | CA467698139 | KCNT1 | c.1230G>T (p.Thr410=) c.1071G>T (p.Thr357=) c.978G>T (p.Thr326=) c.987G>T (p.Thr329=) c.1131G>T (p.Thr377=) c.*840G>T (n.*840G>T) c.1113G>T (p.Thr371=) c.1173G>T (p.Thr391=) n.1049G>T c.1095G>T (p.Thr365=) c.1365G>T (p.Thr455=) c.1374G>T (p.Thr458=) c.720G>T (p.Thr240=) c.1164G>T (p.Thr388=) | |
9 | g.135765654G>A | CA375501204 | KCNT1 | c.1231G>A (p.Glu411Lys) c.1072G>A (p.Glu358Lys) c.979G>A (p.Glu327Lys) c.988G>A (p.Glu330Lys) c.1132G>A (p.Glu378Lys) c.*841G>A (n.*841G>A) c.1114G>A (p.Glu372Lys) c.1174G>A (p.Glu392Lys) n.1050G>A c.1096G>A (p.Glu366Lys) c.1366G>A (p.Glu456Lys) c.1375G>A (p.Glu459Lys) c.721G>A (p.Glu241Lys) c.1165G>A (p.Glu389Lys) | gnomAD v4 COSMIC COSMIC |
9 | g.135765654G>C | CA375501207 | KCNT1 | c.1231G>C (p.Glu411Gln) c.1072G>C (p.Glu358Gln) c.979G>C (p.Glu327Gln) c.988G>C (p.Glu330Gln) c.1132G>C (p.Glu378Gln) c.*841G>C (n.*841G>C) c.1114G>C (p.Glu372Gln) c.1174G>C (p.Glu392Gln) n.1050G>C c.1096G>C (p.Glu366Gln) c.1366G>C (p.Glu456Gln) c.1375G>C (p.Glu459Gln) c.721G>C (p.Glu241Gln) c.1165G>C (p.Glu389Gln) | |
9 | g.135765654G>T | CA375501208 | KCNT1 | c.1231G>T (p.Glu411Ter) c.1072G>T (p.Glu358Ter) c.979G>T (p.Glu327Ter) c.988G>T (p.Glu330Ter) c.1132G>T (p.Glu378Ter) c.*841G>T (n.*841G>T) c.1114G>T (p.Glu372Ter) c.1174G>T (p.Glu392Ter) n.1050G>T c.1096G>T (p.Glu366Ter) c.1366G>T (p.Glu456Ter) c.1375G>T (p.Glu459Ter) c.721G>T (p.Glu241Ter) c.1165G>T (p.Glu389Ter) | |
9 | g.135765655A>C | CA375501219 | KCNT1 | c.1232A>C (p.Glu411Ala) c.1073A>C (p.Glu358Ala) c.980A>C (p.Glu327Ala) c.989A>C (p.Glu330Ala) c.1133A>C (p.Glu378Ala) c.*842A>C (n.*842A>C) c.1115A>C (p.Glu372Ala) c.1175A>C (p.Glu392Ala) n.1051A>C c.1097A>C (p.Glu366Ala) c.1367A>C (p.Glu456Ala) c.1376A>C (p.Glu459Ala) c.722A>C (p.Glu241Ala) c.1166A>C (p.Glu389Ala) | |
9 | g.135765655A>G | CA375501212 | KCNT1 | c.1232A>G (p.Glu411Gly) c.1073A>G (p.Glu358Gly) c.980A>G (p.Glu327Gly) c.989A>G (p.Glu330Gly) c.1133A>G (p.Glu378Gly) c.*842A>G (n.*842A>G) c.1115A>G (p.Glu372Gly) c.1175A>G (p.Glu392Gly) n.1051A>G c.1097A>G (p.Glu366Gly) c.1367A>G (p.Glu456Gly) c.1376A>G (p.Glu459Gly) c.722A>G (p.Glu241Gly) c.1166A>G (p.Glu389Gly) | |
9 | g.135765655A>T | CA375501216 | KCNT1 | c.1232A>T (p.Glu411Val) c.1073A>T (p.Glu358Val) c.980A>T (p.Glu327Val) c.989A>T (p.Glu330Val) c.1133A>T (p.Glu378Val) c.*842A>T (n.*842A>T) c.1115A>T (p.Glu372Val) c.1175A>T (p.Glu392Val) n.1051A>T c.1097A>T (p.Glu366Val) c.1367A>T (p.Glu456Val) c.1376A>T (p.Glu459Val) c.722A>T (p.Glu241Val) c.1166A>T (p.Glu389Val) | |
9 | g.135765656G>A | CA467698140 | KCNT1 | c.1233G>A (p.Glu411=) c.1074G>A (p.Glu358=) c.981G>A (p.Glu327=) c.990G>A (p.Glu330=) c.1134G>A (p.Glu378=) c.*843G>A (n.*843G>A) c.1116G>A (p.Glu372=) c.1176G>A (p.Glu392=) n.1052G>A c.1098G>A (p.Glu366=) c.1368G>A (p.Glu456=) c.1377G>A (p.Glu459=) c.723G>A (p.Glu241=) c.1167G>A (p.Glu389=) | |
9 | g.135765656G>C | CA5326832 | KCNT1 | c.1233G>C (p.Glu411Asp) c.1074G>C (p.Glu358Asp) c.981G>C (p.Glu327Asp) c.990G>C (p.Glu330Asp) c.1134G>C (p.Glu378Asp) c.*843G>C (n.*843G>C) c.1116G>C (p.Glu372Asp) c.1176G>C (p.Glu392Asp) n.1052G>C c.1098G>C (p.Glu366Asp) c.1368G>C (p.Glu456Asp) c.1377G>C (p.Glu459Asp) c.723G>C (p.Glu241Asp) c.1167G>C (p.Glu389Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.135765656G= | CA1883866674 | KCNT1 | c.1233G= (p.Glu411=) c.1074G= (p.Glu358=) c.981G= (p.Glu327=) c.990G= (p.Glu330=) c.1134G= (p.Glu378=) c.*843G= (n.*843G=) c.1116G= (p.Glu372=) c.1176G= (p.Glu392=) n.1052G= c.1098G= (p.Glu366=) c.1368G= (p.Glu456=) c.1377G= (p.Glu459=) c.723G= (p.Glu241=) c.1167G= (p.Glu389=) | |
9 | g.135765656G>T | CA375501236 | KCNT1 | c.1233G>T (p.Glu411Asp) c.1074G>T (p.Glu358Asp) c.981G>T (p.Glu327Asp) c.990G>T (p.Glu330Asp) c.1134G>T (p.Glu378Asp) c.*843G>T (n.*843G>T) c.1116G>T (p.Glu372Asp) c.1176G>T (p.Glu392Asp) n.1052G>T c.1098G>T (p.Glu366Asp) c.1368G>T (p.Glu456Asp) c.1377G>T (p.Glu459Asp) c.723G>T (p.Glu241Asp) c.1167G>T (p.Glu389Asp) | COSMIC |
9 | g.135765657A= | CA1883866675 | KCNT1 | c.1234A= (p.Met412=) c.1075A= (p.Met359=) c.982A= (p.Met328=) c.991A= (p.Met331=) c.1135A= (p.Met379=) c.*844A= (n.*844A=) c.1117A= (p.Met373=) c.1177A= (p.Met393=) n.1053A= c.1099A= (p.Met367=) c.1369A= (p.Met457=) c.1378A= (p.Met460=) c.724A= (p.Met242=) c.1168A= (p.Met390=) | |
9 | g.135765657A>C | CA375501238 | KCNT1 | c.1234A>C (p.Met412Leu) c.1075A>C (p.Met359Leu) c.982A>C (p.Met328Leu) c.991A>C (p.Met331Leu) c.1135A>C (p.Met379Leu) c.*844A>C (n.*844A>C) c.1117A>C (p.Met373Leu) c.1177A>C (p.Met393Leu) n.1053A>C c.1099A>C (p.Met367Leu) c.1369A>C (p.Met457Leu) c.1378A>C (p.Met460Leu) c.724A>C (p.Met242Leu) c.1168A>C (p.Met390Leu) | |
9 | g.135765657A>G | CA201465662 | KCNT1 | c.1234A>G (p.Met412Val) c.1075A>G (p.Met359Val) c.982A>G (p.Met328Val) c.991A>G (p.Met331Val) c.1135A>G (p.Met379Val) c.*844A>G (n.*844A>G) c.1117A>G (p.Met373Val) c.1177A>G (p.Met393Val) n.1053A>G c.1099A>G (p.Met367Val) c.1369A>G (p.Met457Val) c.1378A>G (p.Met460Val) c.724A>G (p.Met242Val) c.1168A>G (p.Met390Val) | ClinVar dbSNP gnomAD v4 |
9 | g.135765657A>T | CA375501240 | KCNT1 | c.1234A>T (p.Met412Leu) c.1075A>T (p.Met359Leu) c.982A>T (p.Met328Leu) c.991A>T (p.Met331Leu) c.1135A>T (p.Met379Leu) c.*844A>T (n.*844A>T) c.1117A>T (p.Met373Leu) c.1177A>T (p.Met393Leu) n.1053A>T c.1099A>T (p.Met367Leu) c.1369A>T (p.Met457Leu) c.1378A>T (p.Met460Leu) c.724A>T (p.Met242Leu) c.1168A>T (p.Met390Leu) | ClinVar |
9 | g.135765658T>A | CA375501243 | KCNT1 | c.1235T>A (p.Met412Lys) c.1076T>A (p.Met359Lys) c.983T>A (p.Met328Lys) c.992T>A (p.Met331Lys) c.1136T>A (p.Met379Lys) c.*845T>A (n.*845T>A) c.1118T>A (p.Met373Lys) c.1178T>A (p.Met393Lys) n.1054T>A c.1100T>A (p.Met367Lys) c.1370T>A (p.Met457Lys) c.1379T>A (p.Met460Lys) c.725T>A (p.Met242Lys) c.1169T>A (p.Met390Lys) | |
9 | g.135765658T>C | CA375501246 | KCNT1 | c.1235T>C (p.Met412Thr) c.1076T>C (p.Met359Thr) c.983T>C (p.Met328Thr) c.992T>C (p.Met331Thr) c.1136T>C (p.Met379Thr) c.*845T>C (n.*845T>C) c.1118T>C (p.Met373Thr) c.1178T>C (p.Met393Thr) n.1054T>C c.1100T>C (p.Met367Thr) c.1370T>C (p.Met457Thr) c.1379T>C (p.Met460Thr) c.725T>C (p.Met242Thr) c.1169T>C (p.Met390Thr) | |
9 | g.135765658T>G | CA375501247 | KCNT1 | c.1235T>G (p.Met412Arg) c.1076T>G (p.Met359Arg) c.983T>G (p.Met328Arg) c.992T>G (p.Met331Arg) c.1136T>G (p.Met379Arg) c.*845T>G (n.*845T>G) c.1118T>G (p.Met373Arg) c.1178T>G (p.Met393Arg) n.1054T>G c.1100T>G (p.Met367Arg) c.1370T>G (p.Met457Arg) c.1379T>G (p.Met460Arg) c.725T>G (p.Met242Arg) c.1169T>G (p.Met390Arg) | |
9 | g.135765659G>A | CA375501248 | KCNT1 | c.1236G>A (p.Met412Ile) c.1077G>A (p.Met359Ile) c.984G>A (p.Met328Ile) c.993G>A (p.Met331Ile) c.1137G>A (p.Met379Ile) c.*846G>A (n.*846G>A) c.1119G>A (p.Met373Ile) c.1179G>A (p.Met393Ile) n.1055G>A c.1101G>A (p.Met367Ile) c.1371G>A (p.Met457Ile) c.1380G>A (p.Met460Ile) c.726G>A (p.Met242Ile) c.1170G>A (p.Met390Ile) | ClinVar dbSNP gnomAD v4 |
9 | g.135765659G>C | CA375501251 | KCNT1 | c.1236G>C (p.Met412Ile) c.1077G>C (p.Met359Ile) c.984G>C (p.Met328Ile) c.993G>C (p.Met331Ile) c.1137G>C (p.Met379Ile) c.*846G>C (n.*846G>C) c.1119G>C (p.Met373Ile) c.1179G>C (p.Met393Ile) n.1055G>C c.1101G>C (p.Met367Ile) c.1371G>C (p.Met457Ile) c.1380G>C (p.Met460Ile) c.726G>C (p.Met242Ile) c.1170G>C (p.Met390Ile) | |
9 | g.135765659G>T | CA375501254 | KCNT1 | c.1236G>T (p.Met412Ile) c.1077G>T (p.Met359Ile) c.984G>T (p.Met328Ile) c.993G>T (p.Met331Ile) c.1137G>T (p.Met379Ile) c.*846G>T (n.*846G>T) c.1119G>T (p.Met373Ile) c.1179G>T (p.Met393Ile) n.1055G>T c.1101G>T (p.Met367Ile) c.1371G>T (p.Met457Ile) c.1380G>T (p.Met460Ile) c.726G>T (p.Met242Ile) c.1170G>T (p.Met390Ile) | |
9 | g.135765660G>A | CA375501258 | KCNT1 | c.1237G>A (p.Asp413Asn) c.1078G>A (p.Asp360Asn) c.985G>A (p.Asp329Asn) c.994G>A (p.Asp332Asn) c.1138G>A (p.Asp380Asn) c.*847G>A (n.*847G>A) c.1120G>A (p.Asp374Asn) c.1180G>A (p.Asp394Asn) n.1056G>A c.1102G>A (p.Asp368Asn) c.1372G>A (p.Asp458Asn) c.1381G>A (p.Asp461Asn) c.727G>A (p.Asp243Asn) c.1171G>A (p.Asp391Asn) | ClinVar dbSNP |
9 | g.135765660G>C | CA375501263 | KCNT1 | c.1237G>C (p.Asp413His) c.1078G>C (p.Asp360His) c.985G>C (p.Asp329His) c.994G>C (p.Asp332His) c.1138G>C (p.Asp380His) c.*847G>C (n.*847G>C) c.1120G>C (p.Asp374His) c.1180G>C (p.Asp394His) n.1056G>C c.1102G>C (p.Asp368His) c.1372G>C (p.Asp458His) c.1381G>C (p.Asp461His) c.727G>C (p.Asp243His) c.1171G>C (p.Asp391His) | |
9 | g.135765660G>T | CA375501259 | KCNT1 | c.1237G>T (p.Asp413Tyr) c.1078G>T (p.Asp360Tyr) c.985G>T (p.Asp329Tyr) c.994G>T (p.Asp332Tyr) c.1138G>T (p.Asp380Tyr) c.*847G>T (n.*847G>T) c.1120G>T (p.Asp374Tyr) c.1180G>T (p.Asp394Tyr) n.1056G>T c.1102G>T (p.Asp368Tyr) c.1372G>T (p.Asp458Tyr) c.1381G>T (p.Asp461Tyr) c.727G>T (p.Asp243Tyr) c.1171G>T (p.Asp391Tyr) | gnomAD v4 |
9 | g.135765661A>C | CA375501266 | KCNT1 | c.1238A>C (p.Asp413Ala) c.1079A>C (p.Asp360Ala) c.986A>C (p.Asp329Ala) c.995A>C (p.Asp332Ala) c.1139A>C (p.Asp380Ala) c.*848A>C (n.*848A>C) c.1121A>C (p.Asp374Ala) c.1181A>C (p.Asp394Ala) n.1057A>C c.1103A>C (p.Asp368Ala) c.1373A>C (p.Asp458Ala) c.1382A>C (p.Asp461Ala) c.728A>C (p.Asp243Ala) c.1172A>C (p.Asp391Ala) | |
9 | g.135765661A>G | CA375501269 | KCNT1 | c.1238A>G (p.Asp413Gly) c.1079A>G (p.Asp360Gly) c.986A>G (p.Asp329Gly) c.995A>G (p.Asp332Gly) c.1139A>G (p.Asp380Gly) c.*848A>G (n.*848A>G) c.1121A>G (p.Asp374Gly) c.1181A>G (p.Asp394Gly) n.1057A>G c.1103A>G (p.Asp368Gly) c.1373A>G (p.Asp458Gly) c.1382A>G (p.Asp461Gly) c.728A>G (p.Asp243Gly) c.1172A>G (p.Asp391Gly) | |
9 | g.135765661A>T | CA375501275 | KCNT1 | c.1238A>T (p.Asp413Val) c.1079A>T (p.Asp360Val) c.986A>T (p.Asp329Val) c.995A>T (p.Asp332Val) c.1139A>T (p.Asp380Val) c.*848A>T (n.*848A>T) c.1121A>T (p.Asp374Val) c.1181A>T (p.Asp394Val) n.1057A>T c.1103A>T (p.Asp368Val) c.1373A>T (p.Asp458Val) c.1382A>T (p.Asp461Val) c.728A>T (p.Asp243Val) c.1172A>T (p.Asp391Val) | |
9 | g.135765662T>A | CA375501276 | KCNT1 | c.1239T>A (p.Asp413Glu) c.1080T>A (p.Asp360Glu) c.987T>A (p.Asp329Glu) c.996T>A (p.Asp332Glu) c.1140T>A (p.Asp380Glu) c.*849T>A (n.*849T>A) c.1122T>A (p.Asp374Glu) c.1182T>A (p.Asp394Glu) n.1058T>A c.1104T>A (p.Asp368Glu) c.1374T>A (p.Asp458Glu) c.1383T>A (p.Asp461Glu) c.729T>A (p.Asp243Glu) c.1173T>A (p.Asp391Glu) | gnomAD v4 |
9 | g.135765662T>C | CA467698141 | KCNT1 | c.1239T>C (p.Asp413=) c.1080T>C (p.Asp360=) c.987T>C (p.Asp329=) c.996T>C (p.Asp332=) c.1140T>C (p.Asp380=) c.*849T>C (n.*849T>C) c.1122T>C (p.Asp374=) c.1182T>C (p.Asp394=) n.1058T>C c.1104T>C (p.Asp368=) c.1374T>C (p.Asp458=) c.1383T>C (p.Asp461=) c.729T>C (p.Asp243=) c.1173T>C (p.Asp391=) | gnomAD v4 |
9 | g.135765662T>G | CA375501280 | KCNT1 | c.1239T>G (p.Asp413Glu) c.1080T>G (p.Asp360Glu) c.987T>G (p.Asp329Glu) c.996T>G (p.Asp332Glu) c.1140T>G (p.Asp380Glu) c.*849T>G (n.*849T>G) c.1122T>G (p.Asp374Glu) c.1182T>G (p.Asp394Glu) n.1058T>G c.1104T>G (p.Asp368Glu) c.1374T>G (p.Asp458Glu) c.1383T>G (p.Asp461Glu) c.729T>G (p.Asp243Glu) c.1173T>G (p.Asp391Glu) | |
9 | g.135765663G>A | CA375501288 | KCNT1 | c.1240G>A (p.Val414Ile) c.1081G>A (p.Val361Ile) c.988G>A (p.Val330Ile) c.997G>A (p.Val333Ile) c.1141G>A (p.Val381Ile) c.*850G>A (n.*850G>A) c.1123G>A (p.Val375Ile) c.1183G>A (p.Val395Ile) n.1059G>A c.1105G>A (p.Val369Ile) c.1375G>A (p.Val459Ile) c.1384G>A (p.Val462Ile) c.730G>A (p.Val244Ile) c.1174G>A (p.Val392Ile) | |
9 | g.135765663G>C | CA375501285 | KCNT1 | c.1240G>C (p.Val414Leu) c.1081G>C (p.Val361Leu) c.988G>C (p.Val330Leu) c.997G>C (p.Val333Leu) c.1141G>C (p.Val381Leu) c.*850G>C (n.*850G>C) c.1123G>C (p.Val375Leu) c.1183G>C (p.Val395Leu) n.1059G>C c.1105G>C (p.Val369Leu) c.1375G>C (p.Val459Leu) c.1384G>C (p.Val462Leu) c.730G>C (p.Val244Leu) c.1174G>C (p.Val392Leu) | |
9 | g.135765663G>T | CA375501283 | KCNT1 | c.1240G>T (p.Val414Phe) c.1081G>T (p.Val361Phe) c.988G>T (p.Val330Phe) c.997G>T (p.Val333Phe) c.1141G>T (p.Val381Phe) c.*850G>T (n.*850G>T) c.1123G>T (p.Val375Phe) c.1183G>T (p.Val395Phe) n.1059G>T c.1105G>T (p.Val369Phe) c.1375G>T (p.Val459Phe) c.1384G>T (p.Val462Phe) c.730G>T (p.Val244Phe) c.1174G>T (p.Val392Phe) | |
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) |