| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135765056T>A | CA375499893 | KCNT1 | c.1061T>A (p.Met354Lys) c.902T>A (p.Met301Lys) c.809T>A (p.Met270Lys) c.818T>A (p.Met273Lys) c.962T>A (p.Met321Lys) c.*671T>A (n.*671T>A) c.944T>A (p.Met315Lys) c.1004T>A (p.Met335Lys) n.880T>A c.926T>A (p.Met309Lys) c.1196T>A (p.Met399Lys) c.1205T>A (p.Met402Lys) c.551T>A (p.Met184Lys) c.995T>A (p.Met332Lys) | |
| 9 | g.135765056T>C | CA375499894 | KCNT1 | c.1061T>C (p.Met354Thr) c.902T>C (p.Met301Thr) c.809T>C (p.Met270Thr) c.818T>C (p.Met273Thr) c.962T>C (p.Met321Thr) c.*671T>C (n.*671T>C) c.944T>C (p.Met315Thr) c.1004T>C (p.Met335Thr) n.880T>C c.926T>C (p.Met309Thr) c.1196T>C (p.Met399Thr) c.1205T>C (p.Met402Thr) c.551T>C (p.Met184Thr) c.995T>C (p.Met332Thr) | |
| 9 | g.135765056T>G | CA16606388 | KCNT1 | c.1061T>G (p.Met354Arg) c.902T>G (p.Met301Arg) c.809T>G (p.Met270Arg) c.818T>G (p.Met273Arg) c.962T>G (p.Met321Arg) c.*671T>G (n.*671T>G) c.944T>G (p.Met315Arg) c.1004T>G (p.Met335Arg) n.880T>G c.926T>G (p.Met309Arg) c.1196T>G (p.Met399Arg) c.1205T>G (p.Met402Arg) c.551T>G (p.Met184Arg) c.995T>G (p.Met332Arg) | ClinVar dbSNP |
| 9 | g.135765056T= | CA1883866291 | KCNT1 | c.1061T= (p.Met354=) c.902T= (p.Met301=) c.809T= (p.Met270=) c.818T= (p.Met273=) c.962T= (p.Met321=) c.*671T= (n.*671T=) c.944T= (p.Met315=) c.1004T= (p.Met335=) n.880T= c.926T= (p.Met309=) c.1196T= (p.Met399=) c.1205T= (p.Met402=) c.551T= (p.Met184=) c.995T= (p.Met332=) | |
| 9 | g.135765057G>A | CA375499897 | KCNT1 | c.1062G>A (p.Met354Ile) c.903G>A (p.Met301Ile) c.810G>A (p.Met270Ile) c.819G>A (p.Met273Ile) c.963G>A (p.Met321Ile) c.*672G>A (n.*672G>A) c.945G>A (p.Met315Ile) c.1005G>A (p.Met335Ile) n.881G>A c.927G>A (p.Met309Ile) c.1197G>A (p.Met399Ile) c.1206G>A (p.Met402Ile) c.552G>A (p.Met184Ile) c.996G>A (p.Met332Ile) | COSMIC COSMIC |
| 9 | g.135765057G>C | CA375499899 | KCNT1 | c.1062G>C (p.Met354Ile) c.903G>C (p.Met301Ile) c.810G>C (p.Met270Ile) c.819G>C (p.Met273Ile) c.963G>C (p.Met321Ile) c.*672G>C (n.*672G>C) c.945G>C (p.Met315Ile) c.1005G>C (p.Met335Ile) n.881G>C c.927G>C (p.Met309Ile) c.1197G>C (p.Met399Ile) c.1206G>C (p.Met402Ile) c.552G>C (p.Met184Ile) c.996G>C (p.Met332Ile) | |
| 9 | g.135765057G>T | CA375499901 | KCNT1 | c.1062G>T (p.Met354Ile) c.903G>T (p.Met301Ile) c.810G>T (p.Met270Ile) c.819G>T (p.Met273Ile) c.963G>T (p.Met321Ile) c.*672G>T (n.*672G>T) c.945G>T (p.Met315Ile) c.1005G>T (p.Met335Ile) n.881G>T c.927G>T (p.Met309Ile) c.1197G>T (p.Met399Ile) c.1206G>T (p.Met402Ile) c.552G>T (p.Met184Ile) c.996G>T (p.Met332Ile) | |
| 9 | g.135765058G>A | CA375499903 | KCNT1 | c.1063G>A (p.Glu355Lys) c.904G>A (p.Glu302Lys) c.811G>A (p.Glu271Lys) c.820G>A (p.Glu274Lys) c.964G>A (p.Glu322Lys) c.*673G>A (n.*673G>A) c.946G>A (p.Glu316Lys) c.1006G>A (p.Glu336Lys) n.882G>A c.928G>A (p.Glu310Lys) c.1198G>A (p.Glu400Lys) c.1207G>A (p.Glu403Lys) c.553G>A (p.Glu185Lys) c.997G>A (p.Glu333Lys) | |
| 9 | g.135765058G>C | CA375499905 | KCNT1 | c.1063G>C (p.Glu355Gln) c.904G>C (p.Glu302Gln) c.811G>C (p.Glu271Gln) c.820G>C (p.Glu274Gln) c.964G>C (p.Glu322Gln) c.*673G>C (n.*673G>C) c.946G>C (p.Glu316Gln) c.1006G>C (p.Glu336Gln) n.882G>C c.928G>C (p.Glu310Gln) c.1198G>C (p.Glu400Gln) c.1207G>C (p.Glu403Gln) c.553G>C (p.Glu185Gln) c.997G>C (p.Glu333Gln) | |
| 9 | g.135765058G>T | CA375499907 | KCNT1 | c.1063G>T (p.Glu355Ter) c.904G>T (p.Glu302Ter) c.811G>T (p.Glu271Ter) c.820G>T (p.Glu274Ter) c.964G>T (p.Glu322Ter) c.*673G>T (n.*673G>T) c.946G>T (p.Glu316Ter) c.1006G>T (p.Glu336Ter) n.882G>T c.928G>T (p.Glu310Ter) c.1198G>T (p.Glu400Ter) c.1207G>T (p.Glu403Ter) c.553G>T (p.Glu185Ter) c.997G>T (p.Glu333Ter) | |
| 9 | g.135765059A= | CA1883866292 | KCNT1 | c.1064A= (p.Glu355=) c.905A= (p.Glu302=) c.812A= (p.Glu271=) c.821A= (p.Glu274=) c.965A= (p.Glu322=) c.*674A= (n.*674A=) c.947A= (p.Glu316=) c.1007A= (p.Glu336=) n.883A= c.929A= (p.Glu310=) c.1199A= (p.Glu400=) c.1208A= (p.Glu403=) c.554A= (p.Glu185=) c.998A= (p.Glu333=) | |
| 9 | g.135765059A>C | CA375499911 | KCNT1 | c.1064A>C (p.Glu355Ala) c.905A>C (p.Glu302Ala) c.812A>C (p.Glu271Ala) c.821A>C (p.Glu274Ala) c.965A>C (p.Glu322Ala) c.*674A>C (n.*674A>C) c.947A>C (p.Glu316Ala) c.1007A>C (p.Glu336Ala) n.883A>C c.929A>C (p.Glu310Ala) c.1199A>C (p.Glu400Ala) c.1208A>C (p.Glu403Ala) c.554A>C (p.Glu185Ala) c.998A>C (p.Glu333Ala) | |
| 9 | g.135765059A>G | CA375499912 | KCNT1 | c.1064A>G (p.Glu355Gly) c.905A>G (p.Glu302Gly) c.812A>G (p.Glu271Gly) c.821A>G (p.Glu274Gly) c.965A>G (p.Glu322Gly) c.*674A>G (n.*674A>G) c.947A>G (p.Glu316Gly) c.1007A>G (p.Glu336Gly) n.883A>G c.929A>G (p.Glu310Gly) c.1199A>G (p.Glu400Gly) c.1208A>G (p.Glu403Gly) c.554A>G (p.Glu185Gly) c.998A>G (p.Glu333Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135765059A>T | CA375499909 | KCNT1 | c.1064A>T (p.Glu355Val) c.905A>T (p.Glu302Val) c.812A>T (p.Glu271Val) c.821A>T (p.Glu274Val) c.965A>T (p.Glu322Val) c.*674A>T (n.*674A>T) c.947A>T (p.Glu316Val) c.1007A>T (p.Glu336Val) n.883A>T c.929A>T (p.Glu310Val) c.1199A>T (p.Glu400Val) c.1208A>T (p.Glu403Val) c.554A>T (p.Glu185Val) c.998A>T (p.Glu333Val) | |
| 9 | g.135765060G>A | CA467697990 | KCNT1 | c.1065G>A (p.Glu355=) c.906G>A (p.Glu302=) c.813G>A (p.Glu271=) c.822G>A (p.Glu274=) c.966G>A (p.Glu322=) c.*675G>A (n.*675G>A) c.948G>A (p.Glu316=) c.1008G>A (p.Glu336=) n.884G>A c.930G>A (p.Glu310=) c.1200G>A (p.Glu400=) c.1209G>A (p.Glu403=) c.555G>A (p.Glu185=) c.999G>A (p.Glu333=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.135765060G>C | CA375499914 | KCNT1 | c.1065G>C (p.Glu355Asp) c.906G>C (p.Glu302Asp) c.813G>C (p.Glu271Asp) c.822G>C (p.Glu274Asp) c.966G>C (p.Glu322Asp) c.*675G>C (n.*675G>C) c.948G>C (p.Glu316Asp) c.1008G>C (p.Glu336Asp) n.884G>C c.930G>C (p.Glu310Asp) c.1200G>C (p.Glu400Asp) c.1209G>C (p.Glu403Asp) c.555G>C (p.Glu185Asp) c.999G>C (p.Glu333Asp) | |
| 9 | g.135765060G= | CA1883866293 | KCNT1 | c.1065G= (p.Glu355=) c.906G= (p.Glu302=) c.813G= (p.Glu271=) c.822G= (p.Glu274=) c.966G= (p.Glu322=) c.*675G= (n.*675G=) c.948G= (p.Glu316=) c.1008G= (p.Glu336=) n.884G= c.930G= (p.Glu310=) c.1200G= (p.Glu400=) c.1209G= (p.Glu403=) c.555G= (p.Glu185=) c.999G= (p.Glu333=) | |
| 9 | g.135765060G>T | CA375499916 | KCNT1 | c.1065G>T (p.Glu355Asp) c.906G>T (p.Glu302Asp) c.813G>T (p.Glu271Asp) c.822G>T (p.Glu274Asp) c.966G>T (p.Glu322Asp) c.*675G>T (n.*675G>T) c.948G>T (p.Glu316Asp) c.1008G>T (p.Glu336Asp) n.884G>T c.930G>T (p.Glu310Asp) c.1200G>T (p.Glu400Asp) c.1209G>T (p.Glu403Asp) c.555G>T (p.Glu185Asp) c.999G>T (p.Glu333Asp) | |
| 9 | g.135765061C>A | CA467697991 | KCNT1 | c.1066C>A (p.Arg356=) c.907C>A (p.Arg303=) c.814C>A (p.Arg272=) c.823C>A (p.Arg275=) c.967C>A (p.Arg323=) c.*676C>A (n.*676C>A) c.949C>A (p.Arg317=) c.1009C>A (p.Arg337=) n.885C>A c.931C>A (p.Arg311=) c.1201C>A (p.Arg401=) c.1210C>A (p.Arg404=) c.556C>A (p.Arg186=) c.1000C>A (p.Arg334=) | dbSNP gnomAD v2 |
| 9 | g.135765061C= | CA1883866294 | KCNT1 | c.1066C= (p.Arg356=) c.907C= (p.Arg303=) c.814C= (p.Arg272=) c.823C= (p.Arg275=) c.967C= (p.Arg323=) c.*676C= (n.*676C=) c.949C= (p.Arg317=) c.1009C= (p.Arg337=) n.885C= c.931C= (p.Arg311=) c.1201C= (p.Arg401=) c.1210C= (p.Arg404=) c.556C= (p.Arg186=) c.1000C= (p.Arg334=) | |
| 9 | g.135765061C>G | CA5326763 | KCNT1 | c.1066C>G (p.Arg356Gly) c.907C>G (p.Arg303Gly) c.814C>G (p.Arg272Gly) c.823C>G (p.Arg275Gly) c.967C>G (p.Arg323Gly) c.*676C>G (n.*676C>G) c.949C>G (p.Arg317Gly) c.1009C>G (p.Arg337Gly) n.885C>G c.931C>G (p.Arg311Gly) c.1201C>G (p.Arg401Gly) c.1210C>G (p.Arg404Gly) c.556C>G (p.Arg186Gly) c.1000C>G (p.Arg334Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135765061C>T | CA16605732 | KCNT1 | c.1066C>T (p.Arg356Trp) c.907C>T (p.Arg303Trp) c.814C>T (p.Arg272Trp) c.823C>T (p.Arg275Trp) c.967C>T (p.Arg323Trp) c.*676C>T (n.*676C>T) c.949C>T (p.Arg317Trp) c.1009C>T (p.Arg337Trp) n.885C>T c.931C>T (p.Arg311Trp) c.1201C>T (p.Arg401Trp) c.1210C>T (p.Arg404Trp) c.556C>T (p.Arg186Trp) c.1000C>T (p.Arg334Trp) | ClinVar dbSNP gnomAD v4 |
| 9 | g.135765062G>A | CA5326764 | KCNT1 | c.1067G>A (p.Arg356Gln) c.908G>A (p.Arg303Gln) c.815G>A (p.Arg272Gln) c.824G>A (p.Arg275Gln) c.968G>A (p.Arg323Gln) c.*677G>A (n.*677G>A) c.950G>A (p.Arg317Gln) c.1010G>A (p.Arg337Gln) n.886G>A c.932G>A (p.Arg311Gln) c.1202G>A (p.Arg401Gln) c.1211G>A (p.Arg404Gln) c.557G>A (p.Arg186Gln) c.1001G>A (p.Arg334Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135765062G>C | CA375499921 | KCNT1 | c.1067G>C (p.Arg356Pro) c.908G>C (p.Arg303Pro) c.815G>C (p.Arg272Pro) c.824G>C (p.Arg275Pro) c.968G>C (p.Arg323Pro) c.*677G>C (n.*677G>C) c.950G>C (p.Arg317Pro) c.1010G>C (p.Arg337Pro) n.886G>C c.932G>C (p.Arg311Pro) c.1202G>C (p.Arg401Pro) c.1211G>C (p.Arg404Pro) c.557G>C (p.Arg186Pro) c.1001G>C (p.Arg334Pro) | |
| 9 | g.135765062G= | CA1883866295 | KCNT1 | c.1067G= (p.Arg356=) c.908G= (p.Arg303=) c.815G= (p.Arg272=) c.824G= (p.Arg275=) c.968G= (p.Arg323=) c.*677G= (n.*677G=) c.950G= (p.Arg317=) c.1010G= (p.Arg337=) n.886G= c.932G= (p.Arg311=) c.1202G= (p.Arg401=) c.1211G= (p.Arg404=) c.557G= (p.Arg186=) c.1001G= (p.Arg334=) | |
| 9 | g.135765062G>T | CA375499922 | KCNT1 | c.1067G>T (p.Arg356Leu) c.908G>T (p.Arg303Leu) c.815G>T (p.Arg272Leu) c.824G>T (p.Arg275Leu) c.968G>T (p.Arg323Leu) c.*677G>T (n.*677G>T) c.950G>T (p.Arg317Leu) c.1010G>T (p.Arg337Leu) n.886G>T c.932G>T (p.Arg311Leu) c.1202G>T (p.Arg401Leu) c.1211G>T (p.Arg404Leu) c.557G>T (p.Arg186Leu) c.1001G>T (p.Arg334Leu) | |
| 9 | g.135765063G>A | CA467697993 | KCNT1 | c.1068G>A (p.Arg356=) c.909G>A (p.Arg303=) c.816G>A (p.Arg272=) c.825G>A (p.Arg275=) c.969G>A (p.Arg323=) c.*678G>A (n.*678G>A) c.951G>A (p.Arg317=) c.1011G>A (p.Arg337=) n.887G>A c.933G>A (p.Arg311=) c.1203G>A (p.Arg401=) c.1212G>A (p.Arg404=) c.558G>A (p.Arg186=) c.1002G>A (p.Arg334=) | |
| 9 | g.135765063G>C | CA467697994 | KCNT1 | c.1068G>C (p.Arg356=) c.909G>C (p.Arg303=) c.816G>C (p.Arg272=) c.825G>C (p.Arg275=) c.969G>C (p.Arg323=) c.*678G>C (n.*678G>C) c.951G>C (p.Arg317=) c.1011G>C (p.Arg337=) n.887G>C c.933G>C (p.Arg311=) c.1203G>C (p.Arg401=) c.1212G>C (p.Arg404=) c.558G>C (p.Arg186=) c.1002G>C (p.Arg334=) | |
| 9 | g.135765063G>T | CA467697995 | KCNT1 | c.1068G>T (p.Arg356=) c.909G>T (p.Arg303=) c.816G>T (p.Arg272=) c.825G>T (p.Arg275=) c.969G>T (p.Arg323=) c.*678G>T (n.*678G>T) c.951G>T (p.Arg317=) c.1011G>T (p.Arg337=) n.887G>T c.933G>T (p.Arg311=) c.1203G>T (p.Arg401=) c.1212G>T (p.Arg404=) c.558G>T (p.Arg186=) c.1002G>T (p.Arg334=) | |
| 9 | g.135765064C>A | CA375499924 | KCNT1 | c.1069C>A (p.Gln357Lys) c.910C>A (p.Gln304Lys) c.817C>A (p.Gln273Lys) c.826C>A (p.Gln276Lys) c.970C>A (p.Gln324Lys) c.*679C>A (n.*679C>A) c.952C>A (p.Gln318Lys) c.1012C>A (p.Gln338Lys) n.888C>A c.934C>A (p.Gln312Lys) c.1204C>A (p.Gln402Lys) c.1213C>A (p.Gln405Lys) c.559C>A (p.Gln187Lys) c.1003C>A (p.Gln335Lys) | |
| 9 | g.135765064C= | CA1883866296 | KCNT1 | c.1069C= (p.Gln357=) c.910C= (p.Gln304=) c.817C= (p.Gln273=) c.826C= (p.Gln276=) c.970C= (p.Gln324=) c.*679C= (n.*679C=) c.952C= (p.Gln318=) c.1012C= (p.Gln338=) n.888C= c.934C= (p.Gln312=) c.1204C= (p.Gln402=) c.1213C= (p.Gln405=) c.559C= (p.Gln187=) c.1003C= (p.Gln335=) | |
| 9 | g.135765064C>G | CA375499925 | KCNT1 | c.1069C>G (p.Gln357Glu) c.910C>G (p.Gln304Glu) c.817C>G (p.Gln273Glu) c.826C>G (p.Gln276Glu) c.970C>G (p.Gln324Glu) c.*679C>G (n.*679C>G) c.952C>G (p.Gln318Glu) c.1012C>G (p.Gln338Glu) n.888C>G c.934C>G (p.Gln312Glu) c.1204C>G (p.Gln402Glu) c.1213C>G (p.Gln405Glu) c.559C>G (p.Gln187Glu) c.1003C>G (p.Gln335Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765064C>T | CA375499928 | KCNT1 | c.1069C>T (p.Gln357Ter) c.910C>T (p.Gln304Ter) c.817C>T (p.Gln273Ter) c.826C>T (p.Gln276Ter) c.970C>T (p.Gln324Ter) c.*679C>T (n.*679C>T) c.952C>T (p.Gln318Ter) c.1012C>T (p.Gln338Ter) n.888C>T c.934C>T (p.Gln312Ter) c.1204C>T (p.Gln402Ter) c.1213C>T (p.Gln405Ter) c.559C>T (p.Gln187Ter) c.1003C>T (p.Gln335Ter) | gnomAD v4 |
| 9 | g.135765065A>C | CA375499930 | KCNT1 | c.1070A>C (p.Gln357Pro) c.911A>C (p.Gln304Pro) c.818A>C (p.Gln273Pro) c.827A>C (p.Gln276Pro) c.971A>C (p.Gln324Pro) c.*680A>C (n.*680A>C) c.953A>C (p.Gln318Pro) c.1013A>C (p.Gln338Pro) n.889A>C c.935A>C (p.Gln312Pro) c.1205A>C (p.Gln402Pro) c.1214A>C (p.Gln405Pro) c.560A>C (p.Gln187Pro) c.1004A>C (p.Gln335Pro) | |
| 9 | g.135765065A>G | CA375499932 | KCNT1 | c.1070A>G (p.Gln357Arg) c.911A>G (p.Gln304Arg) c.818A>G (p.Gln273Arg) c.827A>G (p.Gln276Arg) c.971A>G (p.Gln324Arg) c.*680A>G (n.*680A>G) c.953A>G (p.Gln318Arg) c.1013A>G (p.Gln338Arg) n.889A>G c.935A>G (p.Gln312Arg) c.1205A>G (p.Gln402Arg) c.1214A>G (p.Gln405Arg) c.560A>G (p.Gln187Arg) c.1004A>G (p.Gln335Arg) | |
| 9 | g.135765065A>T | CA375499934 | KCNT1 | c.1070A>T (p.Gln357Leu) c.911A>T (p.Gln304Leu) c.818A>T (p.Gln273Leu) c.827A>T (p.Gln276Leu) c.971A>T (p.Gln324Leu) c.*680A>T (n.*680A>T) c.953A>T (p.Gln318Leu) c.1013A>T (p.Gln338Leu) n.889A>T c.935A>T (p.Gln312Leu) c.1205A>T (p.Gln402Leu) c.1214A>T (p.Gln405Leu) c.560A>T (p.Gln187Leu) c.1004A>T (p.Gln335Leu) | |
| 9 | g.135765066G>A | CA467697997 | KCNT1 | c.1071G>A (p.Gln357=) c.912G>A (p.Gln304=) c.819G>A (p.Gln273=) c.828G>A (p.Gln276=) c.972G>A (p.Gln324=) c.*681G>A (n.*681G>A) c.954G>A (p.Gln318=) c.1014G>A (p.Gln338=) n.890G>A c.936G>A (p.Gln312=) c.1206G>A (p.Gln402=) c.1215G>A (p.Gln405=) c.561G>A (p.Gln187=) c.1005G>A (p.Gln335=) | COSMIC COSMIC |
| 9 | g.135765066G>C | CA375499936 | KCNT1 | c.1071G>C (p.Gln357His) c.912G>C (p.Gln304His) c.819G>C (p.Gln273His) c.828G>C (p.Gln276His) c.972G>C (p.Gln324His) c.*681G>C (n.*681G>C) c.954G>C (p.Gln318His) c.1014G>C (p.Gln338His) n.890G>C c.936G>C (p.Gln312His) c.1206G>C (p.Gln402His) c.1215G>C (p.Gln405His) c.561G>C (p.Gln187His) c.1005G>C (p.Gln335His) | |
| 9 | g.135765066G>T | CA375499938 | KCNT1 | c.1071G>T (p.Gln357His) c.912G>T (p.Gln304His) c.819G>T (p.Gln273His) c.828G>T (p.Gln276His) c.972G>T (p.Gln324His) c.*681G>T (n.*681G>T) c.954G>T (p.Gln318His) c.1014G>T (p.Gln338His) n.890G>T c.936G>T (p.Gln312His) c.1206G>T (p.Gln402His) c.1215G>T (p.Gln405His) c.561G>T (p.Gln187His) c.1005G>T (p.Gln335His) | |
| 9 | g.135765067A>C | CA375499941 | KCNT1 | c.1072A>C (p.Lys358Gln) c.913A>C (p.Lys305Gln) c.820A>C (p.Lys274Gln) c.829A>C (p.Lys277Gln) c.973A>C (p.Lys325Gln) c.*682A>C (n.*682A>C) c.955A>C (p.Lys319Gln) c.1015A>C (p.Lys339Gln) n.891A>C c.937A>C (p.Lys313Gln) c.1207A>C (p.Lys403Gln) c.1216A>C (p.Lys406Gln) c.562A>C (p.Lys188Gln) c.1006A>C (p.Lys336Gln) | |
| 9 | g.135765067A>G | CA375499944 | KCNT1 | c.1072A>G (p.Lys358Glu) c.913A>G (p.Lys305Glu) c.820A>G (p.Lys274Glu) c.829A>G (p.Lys277Glu) c.973A>G (p.Lys325Glu) c.*682A>G (n.*682A>G) c.955A>G (p.Lys319Glu) c.1015A>G (p.Lys339Glu) n.891A>G c.937A>G (p.Lys313Glu) c.1207A>G (p.Lys403Glu) c.1216A>G (p.Lys406Glu) c.562A>G (p.Lys188Glu) c.1006A>G (p.Lys336Glu) | |
| 9 | g.135765067A>T | CA375499943 | KCNT1 | c.1072A>T (p.Lys358Ter) c.913A>T (p.Lys305Ter) c.820A>T (p.Lys274Ter) c.829A>T (p.Lys277Ter) c.973A>T (p.Lys325Ter) c.*682A>T (n.*682A>T) c.955A>T (p.Lys319Ter) c.1015A>T (p.Lys339Ter) n.891A>T c.937A>T (p.Lys313Ter) c.1207A>T (p.Lys403Ter) c.1216A>T (p.Lys406Ter) c.562A>T (p.Lys188Ter) c.1006A>T (p.Lys336Ter) | |
| 9 | g.135765068A>C | CA375499946 | KCNT1 | c.1073A>C (p.Lys358Thr) c.914A>C (p.Lys305Thr) c.821A>C (p.Lys274Thr) c.830A>C (p.Lys277Thr) c.974A>C (p.Lys325Thr) c.*683A>C (n.*683A>C) c.956A>C (p.Lys319Thr) c.1016A>C (p.Lys339Thr) n.892A>C c.938A>C (p.Lys313Thr) c.1208A>C (p.Lys403Thr) c.1217A>C (p.Lys406Thr) c.563A>C (p.Lys188Thr) c.1007A>C (p.Lys336Thr) | |
| 9 | g.135765068A>G | CA375499948 | KCNT1 | c.1073A>G (p.Lys358Arg) c.914A>G (p.Lys305Arg) c.821A>G (p.Lys274Arg) c.830A>G (p.Lys277Arg) c.974A>G (p.Lys325Arg) c.*683A>G (n.*683A>G) c.956A>G (p.Lys319Arg) c.1016A>G (p.Lys339Arg) n.892A>G c.938A>G (p.Lys313Arg) c.1208A>G (p.Lys403Arg) c.1217A>G (p.Lys406Arg) c.563A>G (p.Lys188Arg) c.1007A>G (p.Lys336Arg) | gnomAD v4 |
| 9 | g.135765068A>T | CA375499950 | KCNT1 | c.1073A>T (p.Lys358Met) c.914A>T (p.Lys305Met) c.821A>T (p.Lys274Met) c.830A>T (p.Lys277Met) c.974A>T (p.Lys325Met) c.*683A>T (n.*683A>T) c.956A>T (p.Lys319Met) c.1016A>T (p.Lys339Met) n.892A>T c.938A>T (p.Lys313Met) c.1208A>T (p.Lys403Met) c.1217A>T (p.Lys406Met) c.563A>T (p.Lys188Met) c.1007A>T (p.Lys336Met) | |
| 9 | g.135765069G>A | CA467698002 | KCNT1 | c.1074G>A (p.Lys358=) c.915G>A (p.Lys305=) c.822G>A (p.Lys274=) c.831G>A (p.Lys277=) c.975G>A (p.Lys325=) c.*684G>A (n.*684G>A) c.957G>A (p.Lys319=) c.1017G>A (p.Lys339=) n.893G>A c.939G>A (p.Lys313=) c.1209G>A (p.Lys403=) c.1218G>A (p.Lys406=) c.564G>A (p.Lys188=) c.1008G>A (p.Lys336=) | gnomAD v4 |
| 9 | g.135765069G>C | CA375499952 | KCNT1 | c.1074G>C (p.Lys358Asn) c.915G>C (p.Lys305Asn) c.822G>C (p.Lys274Asn) c.831G>C (p.Lys277Asn) c.975G>C (p.Lys325Asn) c.*684G>C (n.*684G>C) c.957G>C (p.Lys319Asn) c.1017G>C (p.Lys339Asn) n.893G>C c.939G>C (p.Lys313Asn) c.1209G>C (p.Lys403Asn) c.1218G>C (p.Lys406Asn) c.564G>C (p.Lys188Asn) c.1008G>C (p.Lys336Asn) | |
| 9 | g.135765069G>T | CA375499953 | KCNT1 | c.1074G>T (p.Lys358Asn) c.915G>T (p.Lys305Asn) c.822G>T (p.Lys274Asn) c.831G>T (p.Lys277Asn) c.975G>T (p.Lys325Asn) c.*684G>T (n.*684G>T) c.957G>T (p.Lys319Asn) c.1017G>T (p.Lys339Asn) n.893G>T c.939G>T (p.Lys313Asn) c.1209G>T (p.Lys403Asn) c.1218G>T (p.Lys406Asn) c.564G>T (p.Lys188Asn) c.1008G>T (p.Lys336Asn) | |
| 9 | g.135765070T>A | CA375499956 | KCNT1 | c.1075T>A (p.Ser359Thr) c.916T>A (p.Ser306Thr) c.823T>A (p.Ser275Thr) c.832T>A (p.Ser278Thr) c.976T>A (p.Ser326Thr) c.*685T>A (n.*685T>A) c.958T>A (p.Ser320Thr) c.1018T>A (p.Ser340Thr) n.894T>A c.940T>A (p.Ser314Thr) c.1210T>A (p.Ser404Thr) c.1219T>A (p.Ser407Thr) c.565T>A (p.Ser189Thr) c.1009T>A (p.Ser337Thr) | |
| 9 | g.135765070T>C | CA375499957 | KCNT1 | c.1075T>C (p.Ser359Pro) c.916T>C (p.Ser306Pro) c.823T>C (p.Ser275Pro) c.832T>C (p.Ser278Pro) c.976T>C (p.Ser326Pro) c.*685T>C (n.*685T>C) c.958T>C (p.Ser320Pro) c.1018T>C (p.Ser340Pro) n.894T>C c.940T>C (p.Ser314Pro) c.1210T>C (p.Ser404Pro) c.1219T>C (p.Ser407Pro) c.565T>C (p.Ser189Pro) c.1009T>C (p.Ser337Pro) | ClinVar |