UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 9 | g.135765070T>G | CA375499959 | KCNT1 | c.1075T>G (p.Ser359Ala) c.916T>G (p.Ser306Ala) c.823T>G (p.Ser275Ala) c.832T>G (p.Ser278Ala) c.976T>G (p.Ser326Ala) c.*685T>G (n.*685T>G) c.958T>G (p.Ser320Ala) c.1018T>G (p.Ser340Ala) n.894T>G c.940T>G (p.Ser314Ala) c.1210T>G (p.Ser404Ala) c.1219T>G (p.Ser407Ala) c.565T>G (p.Ser189Ala) c.1009T>G (p.Ser337Ala) | dbSNP |
| 9 | g.135765070T= | CA1883866297 | KCNT1 | c.1075T= (p.Ser359=) c.916T= (p.Ser306=) c.823T= (p.Ser275=) c.832T= (p.Ser278=) c.976T= (p.Ser326=) c.*685T= (n.*685T=) c.958T= (p.Ser320=) c.1018T= (p.Ser340=) n.894T= c.940T= (p.Ser314=) c.1210T= (p.Ser404=) c.1219T= (p.Ser407=) c.565T= (p.Ser189=) c.1009T= (p.Ser337=) | |
| 9 | g.135765071C>A | CA375499960 | KCNT1 | c.1076C>A (p.Ser359Ter) c.917C>A (p.Ser306Ter) c.824C>A (p.Ser275Ter) c.833C>A (p.Ser278Ter) c.977C>A (p.Ser326Ter) c.*686C>A (n.*686C>A) c.959C>A (p.Ser320Ter) c.1019C>A (p.Ser340Ter) n.895C>A c.941C>A (p.Ser314Ter) c.1211C>A (p.Ser404Ter) c.1220C>A (p.Ser407Ter) c.566C>A (p.Ser189Ter) c.1010C>A (p.Ser337Ter) | |
| 9 | g.135765071C= | CA1883866299 | KCNT1 | c.1076C= (p.Ser359=) c.917C= (p.Ser306=) c.824C= (p.Ser275=) c.833C= (p.Ser278=) c.977C= (p.Ser326=) c.*686C= (n.*686C=) c.959C= (p.Ser320=) c.1019C= (p.Ser340=) n.895C= c.941C= (p.Ser314=) c.1211C= (p.Ser404=) c.1220C= (p.Ser407=) c.566C= (p.Ser189=) c.1010C= (p.Ser337=) | |
| 9 | g.135765071C>G | CA375499961 | KCNT1 | c.1076C>G (p.Ser359Ter) c.917C>G (p.Ser306Ter) c.824C>G (p.Ser275Ter) c.833C>G (p.Ser278Ter) c.977C>G (p.Ser326Ter) c.*686C>G (n.*686C>G) c.959C>G (p.Ser320Ter) c.1019C>G (p.Ser340Ter) n.895C>G c.941C>G (p.Ser314Ter) c.1211C>G (p.Ser404Ter) c.1220C>G (p.Ser407Ter) c.566C>G (p.Ser189Ter) c.1010C>G (p.Ser337Ter) | |
| 9 | g.135765071C>T | CA375499962 | KCNT1 | c.1076C>T (p.Ser359Leu) c.917C>T (p.Ser306Leu) c.824C>T (p.Ser275Leu) c.833C>T (p.Ser278Leu) c.977C>T (p.Ser326Leu) c.*686C>T (n.*686C>T) c.959C>T (p.Ser320Leu) c.1019C>T (p.Ser340Leu) n.895C>T c.941C>T (p.Ser314Leu) c.1211C>T (p.Ser404Leu) c.1220C>T (p.Ser407Leu) c.566C>T (p.Ser189Leu) c.1010C>T (p.Ser337Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135765071_135765073delinsCAG | CA1883866298 | KCNT1 | c.1076_1078delinsCAG (p.Ser359=) c.917_919delinsCAG (p.Ser306=) c.824_826delinsCAG (p.Ser275=) c.833_835delinsCAG (p.Ser278=) c.977_979delinsCAG (p.Ser326=) c.*686_*688delinsCAG (n.*686_*688delinsCAG) c.959_961delinsCAG (p.Ser320=) c.1019_1021delinsCAG (p.Ser340=) n.895_897delinsCAG c.941_943delinsCAG (p.Ser314=) c.1211_1213delinsCAG (p.Ser404=) c.1220_1222delinsCAG (p.Ser407=) c.566_568delinsCAG (p.Ser189=) c.1010_1012delinsCAG (p.Ser337=) | |
| 9 | g.135765072del | CA2692516081 | KCNT1 | c.1077del (p.Gly361AlafsTer?) c.918del (p.Gly308AlafsTer?) c.825del (p.Gly277AlafsTer?) c.834del (p.Gly280AlafsTer?) c.978del (p.Gly328AlafsTer?) c.*687del (n.*687del) c.960del (p.Gly322AlafsTer?) c.1020del (p.Gly342AlafsTer?) n.896del c.942del (p.Gly316AlafsTer?) c.1212del (p.Gly406AlafsTer?) c.1221del (p.Gly409AlafsTer?) c.567del (p.Gly191AlafsTer?) c.1011del (p.Gly339AlafsTer?) | gnomAD v4 |
| 9 | g.135765072A= | CA1883866301 | KCNT1 | c.1077A= (p.Ser359=) c.918A= (p.Ser306=) c.825A= (p.Ser275=) c.834A= (p.Ser278=) c.978A= (p.Ser326=) c.*687A= (n.*687A=) c.960A= (p.Ser320=) c.1020A= (p.Ser340=) n.896A= c.942A= (p.Ser314=) c.1212A= (p.Ser404=) c.1221A= (p.Ser407=) c.567A= (p.Ser189=) c.1011A= (p.Ser337=) | |
| 9 | g.135765072A>C | CA467698009 | KCNT1 | c.1077A>C (p.Ser359=) c.918A>C (p.Ser306=) c.825A>C (p.Ser275=) c.834A>C (p.Ser278=) c.978A>C (p.Ser326=) c.*687A>C (n.*687A>C) c.960A>C (p.Ser320=) c.1020A>C (p.Ser340=) n.896A>C c.942A>C (p.Ser314=) c.1212A>C (p.Ser404=) c.1221A>C (p.Ser407=) c.567A>C (p.Ser189=) c.1011A>C (p.Ser337=) | |
| 9 | g.135765072A>G | CA5326768 | KCNT1 | c.1077A>G (p.Ser359=) c.918A>G (p.Ser306=) c.825A>G (p.Ser275=) c.834A>G (p.Ser278=) c.978A>G (p.Ser326=) c.*687A>G (n.*687A>G) c.960A>G (p.Ser320=) c.1020A>G (p.Ser340=) n.896A>G c.942A>G (p.Ser314=) c.1212A>G (p.Ser404=) c.1221A>G (p.Ser407=) c.567A>G (p.Ser189=) c.1011A>G (p.Ser337=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765072A>T | CA467698007 | KCNT1 | c.1077A>T (p.Ser359=) c.918A>T (p.Ser306=) c.825A>T (p.Ser275=) c.834A>T (p.Ser278=) c.978A>T (p.Ser326=) c.*687A>T (n.*687A>T) c.960A>T (p.Ser320=) c.1020A>T (p.Ser340=) n.896A>T c.942A>T (p.Ser314=) c.1212A>T (p.Ser404=) c.1221A>T (p.Ser407=) c.567A>T (p.Ser189=) c.1011A>T (p.Ser337=) | |
| 9 | g.135765072_135765073del | CA5326765 | KCNT1 | c.1077_1078del (p.Gly361GlnfsTer?) c.918_919del (p.Gly308GlnfsTer?) c.825_826del (p.Gly277GlnfsTer?) c.834_835del (p.Gly280GlnfsTer?) c.978_979del (p.Gly328GlnfsTer?) c.*687_*688del (n.*687_*688del) c.960_961del (p.Gly322GlnfsTer?) c.1020_1021del (p.Gly342GlnfsTer?) n.896_897del c.942_943del (p.Gly316GlnfsTer?) c.1212_1213del (p.Gly406GlnfsTer?) c.1221_1222del (p.Gly409GlnfsTer?) c.567_568del (p.Gly191GlnfsTer?) c.1011_1012del (p.Gly339GlnfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765072_135765073delinsAG | CA1883866300 | KCNT1 | c.1077_1078delinsAG (p.Ser359=) c.918_919delinsAG (p.Ser306=) c.825_826delinsAG (p.Ser275=) c.834_835delinsAG (p.Ser278=) c.978_979delinsAG (p.Ser326=) c.*687_*688delinsAG (n.*687_*688delinsAG) c.960_961delinsAG (p.Ser320=) c.1020_1021delinsAG (p.Ser340=) n.896_897delinsAG c.942_943delinsAG (p.Ser314=) c.1212_1213delinsAG (p.Ser404=) c.1221_1222delinsAG (p.Ser407=) c.567_568delinsAG (p.Ser189=) c.1011_1012delinsAG (p.Ser337=) |