Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.135765079A>C | CA375499980 | KCNT1 | c.1084A>C (p.Asn362His) c.925A>C (p.Asn309His) c.832A>C (p.Asn278His) c.841A>C (p.Asn281His) c.985A>C (p.Asn329His) c.*694A>C (n.*694A>C) c.967A>C (p.Asn323His) c.1027A>C (p.Asn343His) n.903A>C c.949A>C (p.Asn317His) c.1219A>C (p.Asn407His) c.1228A>C (p.Asn410His) c.574A>C (p.Asn192His) c.1018A>C (p.Asn340His) | gnomAD v4 |
9 | g.135765079A>G | CA375499982 | KCNT1 | c.1084A>G (p.Asn362Asp) c.925A>G (p.Asn309Asp) c.832A>G (p.Asn278Asp) c.841A>G (p.Asn281Asp) c.985A>G (p.Asn329Asp) c.*694A>G (n.*694A>G) c.967A>G (p.Asn323Asp) c.1027A>G (p.Asn343Asp) n.903A>G c.949A>G (p.Asn317Asp) c.1219A>G (p.Asn407Asp) c.1228A>G (p.Asn410Asp) c.574A>G (p.Asn192Asp) c.1018A>G (p.Asn340Asp) | |
9 | g.135765079A>T | CA375499984 | KCNT1 | c.1084A>T (p.Asn362Tyr) c.925A>T (p.Asn309Tyr) c.832A>T (p.Asn278Tyr) c.841A>T (p.Asn281Tyr) c.985A>T (p.Asn329Tyr) c.*694A>T (n.*694A>T) c.967A>T (p.Asn323Tyr) c.1027A>T (p.Asn343Tyr) n.903A>T c.949A>T (p.Asn317Tyr) c.1219A>T (p.Asn407Tyr) c.1228A>T (p.Asn410Tyr) c.574A>T (p.Asn192Tyr) c.1018A>T (p.Asn340Tyr) | |
9 | g.135765080A>C | CA375499985 | KCNT1 | c.1085A>C (p.Asn362Thr) c.926A>C (p.Asn309Thr) c.833A>C (p.Asn278Thr) c.842A>C (p.Asn281Thr) c.986A>C (p.Asn329Thr) c.*695A>C (n.*695A>C) c.968A>C (p.Asn323Thr) c.1028A>C (p.Asn343Thr) n.904A>C c.950A>C (p.Asn317Thr) c.1220A>C (p.Asn407Thr) c.1229A>C (p.Asn410Thr) c.575A>C (p.Asn192Thr) c.1019A>C (p.Asn340Thr) | |
9 | g.135765080A>G | CA375499987 | KCNT1 | c.1085A>G (p.Asn362Ser) c.926A>G (p.Asn309Ser) c.833A>G (p.Asn278Ser) c.842A>G (p.Asn281Ser) c.986A>G (p.Asn329Ser) c.*695A>G (n.*695A>G) c.968A>G (p.Asn323Ser) c.1028A>G (p.Asn343Ser) n.904A>G c.950A>G (p.Asn317Ser) c.1220A>G (p.Asn407Ser) c.1229A>G (p.Asn410Ser) c.575A>G (p.Asn192Ser) c.1019A>G (p.Asn340Ser) | |
9 | g.135765080A>T | CA375499989 | KCNT1 | c.1085A>T (p.Asn362Ile) c.926A>T (p.Asn309Ile) c.833A>T (p.Asn278Ile) c.842A>T (p.Asn281Ile) c.986A>T (p.Asn329Ile) c.*695A>T (n.*695A>T) c.968A>T (p.Asn323Ile) c.1028A>T (p.Asn343Ile) n.904A>T c.950A>T (p.Asn317Ile) c.1220A>T (p.Asn407Ile) c.1229A>T (p.Asn410Ile) c.575A>T (p.Asn192Ile) c.1019A>T (p.Asn340Ile) | |
9 | g.135765081C>A | CA375499991 | KCNT1 | c.1086C>A (p.Asn362Lys) c.927C>A (p.Asn309Lys) c.834C>A (p.Asn278Lys) c.843C>A (p.Asn281Lys) c.987C>A (p.Asn329Lys) c.*696C>A (n.*696C>A) c.969C>A (p.Asn323Lys) c.1029C>A (p.Asn343Lys) n.905C>A c.951C>A (p.Asn317Lys) c.1221C>A (p.Asn407Lys) c.1230C>A (p.Asn410Lys) c.576C>A (p.Asn192Lys) c.1020C>A (p.Asn340Lys) | |
9 | g.135765081C>G | CA375499992 | KCNT1 | c.1086C>G (p.Asn362Lys) c.927C>G (p.Asn309Lys) c.834C>G (p.Asn278Lys) c.843C>G (p.Asn281Lys) c.987C>G (p.Asn329Lys) c.*696C>G (n.*696C>G) c.969C>G (p.Asn323Lys) c.1029C>G (p.Asn343Lys) n.905C>G c.951C>G (p.Asn317Lys) c.1221C>G (p.Asn407Lys) c.1230C>G (p.Asn410Lys) c.576C>G (p.Asn192Lys) c.1020C>G (p.Asn340Lys) | |
9 | g.135765081C>T | CA467698021 | KCNT1 | c.1086C>T (p.Asn362=) c.927C>T (p.Asn309=) c.834C>T (p.Asn278=) c.843C>T (p.Asn281=) c.987C>T (p.Asn329=) c.*696C>T (n.*696C>T) c.969C>T (p.Asn323=) c.1029C>T (p.Asn343=) n.905C>T c.951C>T (p.Asn317=) c.1221C>T (p.Asn407=) c.1230C>T (p.Asn410=) c.576C>T (p.Asn192=) c.1020C>T (p.Asn340=) | |
9 | g.135765082T>A | CA375499995 | KCNT1 | c.1087T>A (p.Tyr363Asn) c.928T>A (p.Tyr310Asn) c.835T>A (p.Tyr279Asn) c.844T>A (p.Tyr282Asn) c.988T>A (p.Tyr330Asn) c.*697T>A (n.*697T>A) c.970T>A (p.Tyr324Asn) c.1030T>A (p.Tyr344Asn) n.906T>A c.952T>A (p.Tyr318Asn) c.1222T>A (p.Tyr408Asn) c.1231T>A (p.Tyr411Asn) c.577T>A (p.Tyr193Asn) c.1021T>A (p.Tyr341Asn) | |
9 | g.135765082T>C | CA375499996 | KCNT1 | c.1087T>C (p.Tyr363His) c.928T>C (p.Tyr310His) c.835T>C (p.Tyr279His) c.844T>C (p.Tyr282His) c.988T>C (p.Tyr330His) c.*697T>C (n.*697T>C) c.970T>C (p.Tyr324His) c.1030T>C (p.Tyr344His) n.906T>C c.952T>C (p.Tyr318His) c.1222T>C (p.Tyr408His) c.1231T>C (p.Tyr411His) c.577T>C (p.Tyr193His) c.1021T>C (p.Tyr341His) | |
9 | g.135765082T>G | CA375499998 | KCNT1 | c.1087T>G (p.Tyr363Asp) c.928T>G (p.Tyr310Asp) c.835T>G (p.Tyr279Asp) c.844T>G (p.Tyr282Asp) c.988T>G (p.Tyr330Asp) c.*697T>G (n.*697T>G) c.970T>G (p.Tyr324Asp) c.1030T>G (p.Tyr344Asp) n.906T>G c.952T>G (p.Tyr318Asp) c.1222T>G (p.Tyr408Asp) c.1231T>G (p.Tyr411Asp) c.577T>G (p.Tyr193Asp) c.1021T>G (p.Tyr341Asp) | gnomAD v4 |
9 | g.135765083A>C | CA375500000 | KCNT1 | c.1088A>C (p.Tyr363Ser) c.929A>C (p.Tyr310Ser) c.836A>C (p.Tyr279Ser) c.845A>C (p.Tyr282Ser) c.989A>C (p.Tyr330Ser) c.*698A>C (n.*698A>C) c.971A>C (p.Tyr324Ser) c.1031A>C (p.Tyr344Ser) n.907A>C c.953A>C (p.Tyr318Ser) c.1223A>C (p.Tyr408Ser) c.1232A>C (p.Tyr411Ser) c.578A>C (p.Tyr193Ser) c.1022A>C (p.Tyr341Ser) | |
9 | g.135765083A>G | CA375500002 | KCNT1 | c.1088A>G (p.Tyr363Cys) c.929A>G (p.Tyr310Cys) c.836A>G (p.Tyr279Cys) c.845A>G (p.Tyr282Cys) c.989A>G (p.Tyr330Cys) c.*698A>G (n.*698A>G) c.971A>G (p.Tyr324Cys) c.1031A>G (p.Tyr344Cys) n.907A>G c.953A>G (p.Tyr318Cys) c.1223A>G (p.Tyr408Cys) c.1232A>G (p.Tyr411Cys) c.578A>G (p.Tyr193Cys) c.1022A>G (p.Tyr341Cys) | |
9 | g.135765083A>T | CA375500004 | KCNT1 | c.1088A>T (p.Tyr363Phe) c.929A>T (p.Tyr310Phe) c.836A>T (p.Tyr279Phe) c.845A>T (p.Tyr282Phe) c.989A>T (p.Tyr330Phe) c.*698A>T (n.*698A>T) c.971A>T (p.Tyr324Phe) c.1031A>T (p.Tyr344Phe) n.907A>T c.953A>T (p.Tyr318Phe) c.1223A>T (p.Tyr408Phe) c.1232A>T (p.Tyr411Phe) c.578A>T (p.Tyr193Phe) c.1022A>T (p.Tyr341Phe) | |
9 | g.135765084C>A | CA375500009 | KCNT1 | c.1089C>A (p.Tyr363Ter) c.930C>A (p.Tyr310Ter) c.837C>A (p.Tyr279Ter) c.846C>A (p.Tyr282Ter) c.990C>A (p.Tyr330Ter) c.*699C>A (n.*699C>A) c.972C>A (p.Tyr324Ter) c.1032C>A (p.Tyr344Ter) n.908C>A c.954C>A (p.Tyr318Ter) c.1224C>A (p.Tyr408Ter) c.1233C>A (p.Tyr411Ter) c.579C>A (p.Tyr193Ter) c.1023C>A (p.Tyr341Ter) | |
9 | g.135765084C= | CA1883866304 | KCNT1 | c.1089C= (p.Tyr363=) c.930C= (p.Tyr310=) c.837C= (p.Tyr279=) c.846C= (p.Tyr282=) c.990C= (p.Tyr330=) c.*699C= (n.*699C=) c.972C= (p.Tyr324=) c.1032C= (p.Tyr344=) n.908C= c.954C= (p.Tyr318=) c.1224C= (p.Tyr408=) c.1233C= (p.Tyr411=) c.579C= (p.Tyr193=) c.1023C= (p.Tyr341=) | |
9 | g.135765084C>G | CA375500007 | KCNT1 | c.1089C>G (p.Tyr363Ter) c.930C>G (p.Tyr310Ter) c.837C>G (p.Tyr279Ter) c.846C>G (p.Tyr282Ter) c.990C>G (p.Tyr330Ter) c.*699C>G (n.*699C>G) c.972C>G (p.Tyr324Ter) c.1032C>G (p.Tyr344Ter) n.908C>G c.954C>G (p.Tyr318Ter) c.1224C>G (p.Tyr408Ter) c.1233C>G (p.Tyr411Ter) c.579C>G (p.Tyr193Ter) c.1023C>G (p.Tyr341Ter) | |
9 | g.135765084C>T | CA467698023 | KCNT1 | c.1089C>T (p.Tyr363=) c.930C>T (p.Tyr310=) c.837C>T (p.Tyr279=) c.846C>T (p.Tyr282=) c.990C>T (p.Tyr330=) c.*699C>T (n.*699C>T) c.972C>T (p.Tyr324=) c.1032C>T (p.Tyr344=) n.908C>T c.954C>T (p.Tyr318=) c.1224C>T (p.Tyr408=) c.1233C>T (p.Tyr411=) c.579C>T (p.Tyr193=) c.1023C>T (p.Tyr341=) | ClinVar dbSNP gnomAD v4 |
9 | g.135765085A>C | CA375500011 | KCNT1 | c.1090A>C (p.Ser364Arg) c.931A>C (p.Ser311Arg) c.838A>C (p.Ser280Arg) c.847A>C (p.Ser283Arg) c.991A>C (p.Ser331Arg) c.*700A>C (n.*700A>C) c.973A>C (p.Ser325Arg) c.1033A>C (p.Ser345Arg) n.909A>C c.955A>C (p.Ser319Arg) c.1225A>C (p.Ser409Arg) c.1234A>C (p.Ser412Arg) c.580A>C (p.Ser194Arg) c.1024A>C (p.Ser342Arg) | |
9 | g.135765085A>G | CA375500015 | KCNT1 | c.1090A>G (p.Ser364Gly) c.931A>G (p.Ser311Gly) c.838A>G (p.Ser280Gly) c.847A>G (p.Ser283Gly) c.991A>G (p.Ser331Gly) c.*700A>G (n.*700A>G) c.973A>G (p.Ser325Gly) c.1033A>G (p.Ser345Gly) n.909A>G c.955A>G (p.Ser319Gly) c.1225A>G (p.Ser409Gly) c.1234A>G (p.Ser412Gly) c.580A>G (p.Ser194Gly) c.1024A>G (p.Ser342Gly) | gnomAD v4 |
9 | g.135765085A>T | CA375500013 | KCNT1 | c.1090A>T (p.Ser364Cys) c.931A>T (p.Ser311Cys) c.838A>T (p.Ser280Cys) c.847A>T (p.Ser283Cys) c.991A>T (p.Ser331Cys) c.*700A>T (n.*700A>T) c.973A>T (p.Ser325Cys) c.1033A>T (p.Ser345Cys) n.909A>T c.955A>T (p.Ser319Cys) c.1225A>T (p.Ser409Cys) c.1234A>T (p.Ser412Cys) c.580A>T (p.Ser194Cys) c.1024A>T (p.Ser342Cys) | |
9 | g.135765086G>A | CA375500018 | KCNT1 | c.1091G>A (p.Ser364Asn) c.932G>A (p.Ser311Asn) c.839G>A (p.Ser280Asn) c.848G>A (p.Ser283Asn) c.992G>A (p.Ser331Asn) c.*701G>A (n.*701G>A) c.974G>A (p.Ser325Asn) c.1034G>A (p.Ser345Asn) n.910G>A c.956G>A (p.Ser319Asn) c.1226G>A (p.Ser409Asn) c.1235G>A (p.Ser412Asn) c.581G>A (p.Ser194Asn) c.1025G>A (p.Ser342Asn) | |
9 | g.135765086G>C | CA375500020 | KCNT1 | c.1091G>C (p.Ser364Thr) c.932G>C (p.Ser311Thr) c.839G>C (p.Ser280Thr) c.848G>C (p.Ser283Thr) c.992G>C (p.Ser331Thr) c.*701G>C (n.*701G>C) c.974G>C (p.Ser325Thr) c.1034G>C (p.Ser345Thr) n.910G>C c.956G>C (p.Ser319Thr) c.1226G>C (p.Ser409Thr) c.1235G>C (p.Ser412Thr) c.581G>C (p.Ser194Thr) c.1025G>C (p.Ser342Thr) | dbSNP |
9 | g.135765086G= | CA1883866305 | KCNT1 | c.1091G= (p.Ser364=) c.932G= (p.Ser311=) c.839G= (p.Ser280=) c.848G= (p.Ser283=) c.992G= (p.Ser331=) c.*701G= (n.*701G=) c.974G= (p.Ser325=) c.1034G= (p.Ser345=) n.910G= c.956G= (p.Ser319=) c.1226G= (p.Ser409=) c.1235G= (p.Ser412=) c.581G= (p.Ser194=) c.1025G= (p.Ser342=) | |
9 | g.135765086G>T | CA375500021 | KCNT1 | c.1091G>T (p.Ser364Ile) c.932G>T (p.Ser311Ile) c.839G>T (p.Ser280Ile) c.848G>T (p.Ser283Ile) c.992G>T (p.Ser331Ile) c.*701G>T (n.*701G>T) c.974G>T (p.Ser325Ile) c.1034G>T (p.Ser345Ile) n.910G>T c.956G>T (p.Ser319Ile) c.1226G>T (p.Ser409Ile) c.1235G>T (p.Ser412Ile) c.581G>T (p.Ser194Ile) c.1025G>T (p.Ser342Ile) | |
9 | g.135765087C>A | CA375500024 | KCNT1 | c.1092C>A (p.Ser364Arg) c.933C>A (p.Ser311Arg) c.840C>A (p.Ser280Arg) c.849C>A (p.Ser283Arg) c.993C>A (p.Ser331Arg) c.*702C>A (n.*702C>A) c.975C>A (p.Ser325Arg) c.1035C>A (p.Ser345Arg) n.911C>A c.957C>A (p.Ser319Arg) c.1227C>A (p.Ser409Arg) c.1236C>A (p.Ser412Arg) c.582C>A (p.Ser194Arg) c.1026C>A (p.Ser342Arg) | |
9 | g.135765087C= | CA1883866306 | KCNT1 | c.1092C= (p.Ser364=) c.933C= (p.Ser311=) c.840C= (p.Ser280=) c.849C= (p.Ser283=) c.993C= (p.Ser331=) c.*702C= (n.*702C=) c.975C= (p.Ser325=) c.1035C= (p.Ser345=) n.911C= c.957C= (p.Ser319=) c.1227C= (p.Ser409=) c.1236C= (p.Ser412=) c.582C= (p.Ser194=) c.1026C= (p.Ser342=) | |
9 | g.135765087C>G | CA375500026 | KCNT1 | c.1092C>G (p.Ser364Arg) c.933C>G (p.Ser311Arg) c.840C>G (p.Ser280Arg) c.849C>G (p.Ser283Arg) c.993C>G (p.Ser331Arg) c.*702C>G (n.*702C>G) c.975C>G (p.Ser325Arg) c.1035C>G (p.Ser345Arg) n.911C>G c.957C>G (p.Ser319Arg) c.1227C>G (p.Ser409Arg) c.1236C>G (p.Ser412Arg) c.582C>G (p.Ser194Arg) c.1026C>G (p.Ser342Arg) | |
9 | g.135765087C>T | CA467698025 | KCNT1 | c.1092C>T (p.Ser364=) c.933C>T (p.Ser311=) c.840C>T (p.Ser280=) c.849C>T (p.Ser283=) c.993C>T (p.Ser331=) c.*702C>T (n.*702C>T) c.975C>T (p.Ser325=) c.1035C>T (p.Ser345=) n.911C>T c.957C>T (p.Ser319=) c.1227C>T (p.Ser409=) c.1236C>T (p.Ser412=) c.582C>T (p.Ser194=) c.1026C>T (p.Ser342=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135765088C>A | CA375500028 | KCNT1 | c.1093C>A (p.Arg365Ser) c.934C>A (p.Arg312Ser) c.841C>A (p.Arg281Ser) c.850C>A (p.Arg284Ser) c.994C>A (p.Arg332Ser) c.*703C>A (n.*703C>A) c.976C>A (p.Arg326Ser) c.1036C>A (p.Arg346Ser) n.912C>A c.958C>A (p.Arg320Ser) c.1228C>A (p.Arg410Ser) c.1237C>A (p.Arg413Ser) c.583C>A (p.Arg195Ser) c.1027C>A (p.Arg343Ser) | ClinVar |
9 | g.135765088C= | CA1883866307 | KCNT1 | c.1093C= (p.Arg365=) c.934C= (p.Arg312=) c.841C= (p.Arg281=) c.850C= (p.Arg284=) c.994C= (p.Arg332=) c.*703C= (n.*703C=) c.976C= (p.Arg326=) c.1036C= (p.Arg346=) n.912C= c.958C= (p.Arg320=) c.1228C= (p.Arg410=) c.1237C= (p.Arg413=) c.583C= (p.Arg195=) c.1027C= (p.Arg343=) | |
9 | g.135765088C>G | CA375500030 | KCNT1 | c.1093C>G (p.Arg365Gly) c.934C>G (p.Arg312Gly) c.841C>G (p.Arg281Gly) c.850C>G (p.Arg284Gly) c.994C>G (p.Arg332Gly) c.*703C>G (n.*703C>G) c.976C>G (p.Arg326Gly) c.1036C>G (p.Arg346Gly) n.912C>G c.958C>G (p.Arg320Gly) c.1228C>G (p.Arg410Gly) c.1237C>G (p.Arg413Gly) c.583C>G (p.Arg195Gly) c.1027C>G (p.Arg343Gly) | |
9 | g.135765088C>T | CA5326769 | KCNT1 | c.1093C>T (p.Arg365Cys) c.934C>T (p.Arg312Cys) c.841C>T (p.Arg281Cys) c.850C>T (p.Arg284Cys) c.994C>T (p.Arg332Cys) c.*703C>T (n.*703C>T) c.976C>T (p.Arg326Cys) c.1036C>T (p.Arg346Cys) n.912C>T c.958C>T (p.Arg320Cys) c.1228C>T (p.Arg410Cys) c.1237C>T (p.Arg413Cys) c.583C>T (p.Arg195Cys) c.1027C>T (p.Arg343Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.135765089G>A | CA201465142 | KCNT1 | c.1094G>A (p.Arg365His) c.935G>A (p.Arg312His) c.842G>A (p.Arg281His) c.851G>A (p.Arg284His) c.995G>A (p.Arg332His) c.*704G>A (n.*704G>A) c.977G>A (p.Arg326His) c.1037G>A (p.Arg346His) n.913G>A c.959G>A (p.Arg320His) c.1229G>A (p.Arg410His) c.1238G>A (p.Arg413His) c.584G>A (p.Arg195His) c.1028G>A (p.Arg343His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.135765089G>C | CA375500036 | KCNT1 | c.1094G>C (p.Arg365Pro) c.935G>C (p.Arg312Pro) c.842G>C (p.Arg281Pro) c.851G>C (p.Arg284Pro) c.995G>C (p.Arg332Pro) c.*704G>C (n.*704G>C) c.977G>C (p.Arg326Pro) c.1037G>C (p.Arg346Pro) n.913G>C c.959G>C (p.Arg320Pro) c.1229G>C (p.Arg410Pro) c.1238G>C (p.Arg413Pro) c.584G>C (p.Arg195Pro) c.1028G>C (p.Arg343Pro) | |
9 | g.135765089G= | CA1883866308 | KCNT1 | c.1094G= (p.Arg365=) c.935G= (p.Arg312=) c.842G= (p.Arg281=) c.851G= (p.Arg284=) c.995G= (p.Arg332=) c.*704G= (n.*704G=) c.977G= (p.Arg326=) c.1037G= (p.Arg346=) n.913G= c.959G= (p.Arg320=) c.1229G= (p.Arg410=) c.1238G= (p.Arg413=) c.584G= (p.Arg195=) c.1028G= (p.Arg343=) | |
9 | g.135765089G>T | CA375500034 | KCNT1 | c.1094G>T (p.Arg365Leu) c.935G>T (p.Arg312Leu) c.842G>T (p.Arg281Leu) c.851G>T (p.Arg284Leu) c.995G>T (p.Arg332Leu) c.*704G>T (n.*704G>T) c.977G>T (p.Arg326Leu) c.1037G>T (p.Arg346Leu) n.913G>T c.959G>T (p.Arg320Leu) c.1229G>T (p.Arg410Leu) c.1238G>T (p.Arg413Leu) c.584G>T (p.Arg195Leu) c.1028G>T (p.Arg343Leu) | ClinVar |
9 | g.135765090C>A | CA467698027 | KCNT1 | c.1095C>A (p.Arg365=) c.936C>A (p.Arg312=) c.843C>A (p.Arg281=) c.852C>A (p.Arg284=) c.996C>A (p.Arg332=) c.*705C>A (n.*705C>A) c.978C>A (p.Arg326=) c.1038C>A (p.Arg346=) n.914C>A c.960C>A (p.Arg320=) c.1230C>A (p.Arg410=) c.1239C>A (p.Arg413=) c.585C>A (p.Arg195=) c.1029C>A (p.Arg343=) | |
9 | g.135765090C= | CA1883866309 | KCNT1 | c.1095C= (p.Arg365=) c.936C= (p.Arg312=) c.843C= (p.Arg281=) c.852C= (p.Arg284=) c.996C= (p.Arg332=) c.*705C= (n.*705C=) c.978C= (p.Arg326=) c.1038C= (p.Arg346=) n.914C= c.960C= (p.Arg320=) c.1230C= (p.Arg410=) c.1239C= (p.Arg413=) c.585C= (p.Arg195=) c.1029C= (p.Arg343=) | |
9 | g.135765090C>G | CA467698028 | KCNT1 | c.1095C>G (p.Arg365=) c.936C>G (p.Arg312=) c.843C>G (p.Arg281=) c.852C>G (p.Arg284=) c.996C>G (p.Arg332=) c.*705C>G (n.*705C>G) c.978C>G (p.Arg326=) c.1038C>G (p.Arg346=) n.914C>G c.960C>G (p.Arg320=) c.1230C>G (p.Arg410=) c.1239C>G (p.Arg413=) c.585C>G (p.Arg195=) c.1029C>G (p.Arg343=) | |
9 | g.135765090C>T | CA5326770 | KCNT1 | c.1095C>T (p.Arg365=) c.936C>T (p.Arg312=) c.843C>T (p.Arg281=) c.852C>T (p.Arg284=) c.996C>T (p.Arg332=) c.*705C>T (n.*705C>T) c.978C>T (p.Arg326=) c.1038C>T (p.Arg346=) n.914C>T c.960C>T (p.Arg320=) c.1230C>T (p.Arg410=) c.1239C>T (p.Arg413=) c.585C>T (p.Arg195=) c.1029C>T (p.Arg343=) | dbSNP ExAC gnomAD v2 |
9 | g.135765091C>A | CA375500039 | KCNT1 | c.1096C>A (p.His366Asn) c.937C>A (p.His313Asn) c.844C>A (p.His282Asn) c.853C>A (p.His285Asn) c.997C>A (p.His333Asn) c.*706C>A (n.*706C>A) c.979C>A (p.His327Asn) c.1039C>A (p.His347Asn) n.915C>A c.961C>A (p.His321Asn) c.1231C>A (p.His411Asn) c.1240C>A (p.His414Asn) c.586C>A (p.His196Asn) c.1030C>A (p.His344Asn) | |
9 | g.135765091C>G | CA375500040 | KCNT1 | c.1096C>G (p.His366Asp) c.937C>G (p.His313Asp) c.844C>G (p.His282Asp) c.853C>G (p.His285Asp) c.997C>G (p.His333Asp) c.*706C>G (n.*706C>G) c.979C>G (p.His327Asp) c.1039C>G (p.His347Asp) n.915C>G c.961C>G (p.His321Asp) c.1231C>G (p.His411Asp) c.1240C>G (p.His414Asp) c.586C>G (p.His196Asp) c.1030C>G (p.His344Asp) | |
9 | g.135765091C>T | CA375500042 | KCNT1 | c.1096C>T (p.His366Tyr) c.937C>T (p.His313Tyr) c.844C>T (p.His282Tyr) c.853C>T (p.His285Tyr) c.997C>T (p.His333Tyr) c.*706C>T (n.*706C>T) c.979C>T (p.His327Tyr) c.1039C>T (p.His347Tyr) n.915C>T c.961C>T (p.His321Tyr) c.1231C>T (p.His411Tyr) c.1240C>T (p.His414Tyr) c.586C>T (p.His196Tyr) c.1030C>T (p.His344Tyr) | |
9 | g.135765092A>C | CA375500045 | KCNT1 | c.1097A>C (p.His366Pro) c.938A>C (p.His313Pro) c.845A>C (p.His282Pro) c.854A>C (p.His285Pro) c.998A>C (p.His333Pro) c.*707A>C (n.*707A>C) c.980A>C (p.His327Pro) c.1040A>C (p.His347Pro) n.916A>C c.962A>C (p.His321Pro) c.1232A>C (p.His411Pro) c.1241A>C (p.His414Pro) c.587A>C (p.His196Pro) c.1031A>C (p.His344Pro) | |
9 | g.135765092A>G | CA375500048 | KCNT1 | c.1097A>G (p.His366Arg) c.938A>G (p.His313Arg) c.845A>G (p.His282Arg) c.854A>G (p.His285Arg) c.998A>G (p.His333Arg) c.*707A>G (n.*707A>G) c.980A>G (p.His327Arg) c.1040A>G (p.His347Arg) n.916A>G c.962A>G (p.His321Arg) c.1232A>G (p.His411Arg) c.1241A>G (p.His414Arg) c.587A>G (p.His196Arg) c.1031A>G (p.His344Arg) | |
9 | g.135765092A>T | CA375500046 | KCNT1 | c.1097A>T (p.His366Leu) c.938A>T (p.His313Leu) c.845A>T (p.His282Leu) c.854A>T (p.His285Leu) c.998A>T (p.His333Leu) c.*707A>T (n.*707A>T) c.980A>T (p.His327Leu) c.1040A>T (p.His347Leu) n.916A>T c.962A>T (p.His321Leu) c.1232A>T (p.His411Leu) c.1241A>T (p.His414Leu) c.587A>T (p.His196Leu) c.1031A>T (p.His344Leu) | |
9 | g.135765093C>A | CA375500050 | KCNT1 | c.1098C>A (p.His366Gln) c.939C>A (p.His313Gln) c.846C>A (p.His282Gln) c.855C>A (p.His285Gln) c.999C>A (p.His333Gln) c.*708C>A (n.*708C>A) c.981C>A (p.His327Gln) c.1041C>A (p.His347Gln) n.917C>A c.963C>A (p.His321Gln) c.1233C>A (p.His411Gln) c.1242C>A (p.His414Gln) c.588C>A (p.His196Gln) c.1032C>A (p.His344Gln) | |
9 | g.135765093C>G | CA375500051 | KCNT1 | c.1098C>G (p.His366Gln) c.939C>G (p.His313Gln) c.846C>G (p.His282Gln) c.855C>G (p.His285Gln) c.999C>G (p.His333Gln) c.*708C>G (n.*708C>G) c.981C>G (p.His327Gln) c.1041C>G (p.His347Gln) n.917C>G c.963C>G (p.His321Gln) c.1233C>G (p.His411Gln) c.1242C>G (p.His414Gln) c.588C>G (p.His196Gln) c.1032C>G (p.His344Gln) |