| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 9 | g.135765072_135765074del | CA2579510779 | KCNT1 | c.1077_1079del (p.Gly360del) c.918_920del (p.Gly307del) c.825_827del (p.Gly276del) c.834_836del (p.Gly279del) c.978_980del (p.Gly327del) c.*687_*689del (n.*687_*689del) c.960_962del (p.Gly321del) c.1020_1022del (p.Gly341del) n.896_898del c.942_944del (p.Gly315del) c.1212_1214del (p.Gly405del) c.1221_1223del (p.Gly408del) c.567_569del (p.Gly190del) c.1011_1013del (p.Gly338del) | |
| 9 | g.135765072_135765073insAG | CA201465130 | KCNT1 | c.1077_1078insAG (p.Gly360ArgfsTer?) c.918_919insAG (p.Gly307ArgfsTer?) c.825_826insAG (p.Gly276ArgfsTer?) c.834_835insAG (p.Gly279ArgfsTer?) c.978_979insAG (p.Gly327ArgfsTer?) c.*687_*688insAG (n.*687_*688insAG) c.960_961insAG (p.Gly321ArgfsTer?) c.1020_1021insAG (p.Gly341ArgfsTer?) n.896_897insAG c.942_943insAG (p.Gly315ArgfsTer?) c.1212_1213insAG (p.Gly405ArgfsTer?) c.1221_1222insAG (p.Gly408ArgfsTer?) c.567_568insAG (p.Gly190ArgfsTer?) c.1011_1012insAG (p.Gly338ArgfsTer?) | |
| 9 | g.135765073G>A | CA375499963 | KCNT1 | c.1078G>A (p.Gly360Arg) c.919G>A (p.Gly307Arg) c.826G>A (p.Gly276Arg) c.835G>A (p.Gly279Arg) c.979G>A (p.Gly327Arg) c.*688G>A (n.*688G>A) c.961G>A (p.Gly321Arg) c.1021G>A (p.Gly341Arg) n.897G>A c.943G>A (p.Gly315Arg) c.1213G>A (p.Gly405Arg) c.1222G>A (p.Gly408Arg) c.568G>A (p.Gly190Arg) c.1012G>A (p.Gly338Arg) | |
| 9 | g.135765073G>C | CA375499964 | KCNT1 | c.1078G>C (p.Gly360Arg) c.919G>C (p.Gly307Arg) c.826G>C (p.Gly276Arg) c.835G>C (p.Gly279Arg) c.979G>C (p.Gly327Arg) c.*688G>C (n.*688G>C) c.961G>C (p.Gly321Arg) c.1021G>C (p.Gly341Arg) n.897G>C c.943G>C (p.Gly315Arg) c.1213G>C (p.Gly405Arg) c.1222G>C (p.Gly408Arg) c.568G>C (p.Gly190Arg) c.1012G>C (p.Gly338Arg) | |
| 9 | g.135765073G>T | CA375499965 | KCNT1 | c.1078G>T (p.Gly360Trp) c.919G>T (p.Gly307Trp) c.826G>T (p.Gly276Trp) c.835G>T (p.Gly279Trp) c.979G>T (p.Gly327Trp) c.*688G>T (n.*688G>T) c.961G>T (p.Gly321Trp) c.1021G>T (p.Gly341Trp) n.897G>T c.943G>T (p.Gly315Trp) c.1213G>T (p.Gly405Trp) c.1222G>T (p.Gly408Trp) c.568G>T (p.Gly190Trp) c.1012G>T (p.Gly338Trp) | |
| 9 | g.135765077dup | CA5326766 | KCNT1 | c.1082dup (p.Asn362GlnfsTer?) c.923dup (p.Asn309GlnfsTer?) c.830dup (p.Asn278GlnfsTer?) c.839dup (p.Asn281GlnfsTer?) c.983dup (p.Asn329GlnfsTer?) c.*692dup (n.*692dup) c.965dup (p.Asn323GlnfsTer?) c.1025dup (p.Asn343GlnfsTer?) n.901dup c.947dup (p.Asn317GlnfsTer?) c.1217dup (p.Asn407GlnfsTer?) c.1226dup (p.Asn410GlnfsTer?) c.572dup (p.Asn192GlnfsTer?) c.1016dup (p.Asn340GlnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135765077del | CA5326767 | KCNT1 | c.1082del (p.Gly361AlafsTer30) c.923del (p.Gly308AlafsTer30) c.830del (p.Gly277AlafsTer30) c.839del (p.Gly280AlafsTer30) c.983del (p.Gly328AlafsTer30) c.*692del (n.*692del) c.965del (p.Gly322AlafsTer30) c.1025del (p.Gly342AlafsTer30) n.901del c.947del (p.Gly316AlafsTer30) c.1217del (p.Gly406AlafsTer30) c.1226del (p.Gly409AlafsTer30) c.572del (p.Gly191AlafsTer30) c.1016del (p.Gly339AlafsTer30) | dbSNP ExAC gnomAD v2 |
| 9 | g.135765074G>A | CA375499966 | KCNT1 | c.1079G>A (p.Gly360Glu) c.920G>A (p.Gly307Glu) c.827G>A (p.Gly276Glu) c.836G>A (p.Gly279Glu) c.980G>A (p.Gly327Glu) c.*689G>A (n.*689G>A) c.962G>A (p.Gly321Glu) c.1022G>A (p.Gly341Glu) n.898G>A c.944G>A (p.Gly315Glu) c.1214G>A (p.Gly405Glu) c.1223G>A (p.Gly408Glu) c.569G>A (p.Gly190Glu) c.1013G>A (p.Gly338Glu) | |
| 9 | g.135765074G>C | CA375499967 | KCNT1 | c.1079G>C (p.Gly360Ala) c.920G>C (p.Gly307Ala) c.827G>C (p.Gly276Ala) c.836G>C (p.Gly279Ala) c.980G>C (p.Gly327Ala) c.*689G>C (n.*689G>C) c.962G>C (p.Gly321Ala) c.1022G>C (p.Gly341Ala) n.898G>C c.944G>C (p.Gly315Ala) c.1214G>C (p.Gly405Ala) c.1223G>C (p.Gly408Ala) c.569G>C (p.Gly190Ala) c.1013G>C (p.Gly338Ala) | |
| 9 | g.135765074G>T | CA375499968 | KCNT1 | c.1079G>T (p.Gly360Val) c.920G>T (p.Gly307Val) c.827G>T (p.Gly276Val) c.836G>T (p.Gly279Val) c.980G>T (p.Gly327Val) c.*689G>T (n.*689G>T) c.962G>T (p.Gly321Val) c.1022G>T (p.Gly341Val) n.898G>T c.944G>T (p.Gly315Val) c.1214G>T (p.Gly405Val) c.1223G>T (p.Gly408Val) c.569G>T (p.Gly190Val) c.1013G>T (p.Gly338Val) | |
| 9 | g.135765075G>A | CA467698013 | KCNT1 | c.1080G>A (p.Gly360=) c.921G>A (p.Gly307=) c.828G>A (p.Gly276=) c.837G>A (p.Gly279=) c.981G>A (p.Gly327=) c.*690G>A (n.*690G>A) c.963G>A (p.Gly321=) c.1023G>A (p.Gly341=) n.899G>A c.945G>A (p.Gly315=) c.1215G>A (p.Gly405=) c.1224G>A (p.Gly408=) c.570G>A (p.Gly190=) c.1014G>A (p.Gly338=) | dbSNP |
| 9 | g.135765075G>C | CA467698015 | KCNT1 | c.1080G>C (p.Gly360=) c.921G>C (p.Gly307=) c.828G>C (p.Gly276=) c.837G>C (p.Gly279=) c.981G>C (p.Gly327=) c.*690G>C (n.*690G>C) c.963G>C (p.Gly321=) c.1023G>C (p.Gly341=) n.899G>C c.945G>C (p.Gly315=) c.1215G>C (p.Gly405=) c.1224G>C (p.Gly408=) c.570G>C (p.Gly190=) c.1014G>C (p.Gly338=) | |
| 9 | g.135765075G= | CA1883866302 | KCNT1 | c.1080G= (p.Gly360=) c.921G= (p.Gly307=) c.828G= (p.Gly276=) c.837G= (p.Gly279=) c.981G= (p.Gly327=) c.*690G= (n.*690G=) c.963G= (p.Gly321=) c.1023G= (p.Gly341=) n.899G= c.945G= (p.Gly315=) c.1215G= (p.Gly405=) c.1224G= (p.Gly408=) c.570G= (p.Gly190=) c.1014G= (p.Gly338=) | |
| 9 | g.135765075G>T | CA467698016 | KCNT1 | c.1080G>T (p.Gly360=) c.921G>T (p.Gly307=) c.828G>T (p.Gly276=) c.837G>T (p.Gly279=) c.981G>T (p.Gly327=) c.*690G>T (n.*690G>T) c.963G>T (p.Gly321=) c.1023G>T (p.Gly341=) n.899G>T c.945G>T (p.Gly315=) c.1215G>T (p.Gly405=) c.1224G>T (p.Gly408=) c.570G>T (p.Gly190=) c.1014G>T (p.Gly338=) | |
| 9 | g.135765076G>A | CA375499969 | KCNT1 | c.1081G>A (p.Gly361Ser) c.922G>A (p.Gly308Ser) c.829G>A (p.Gly277Ser) c.838G>A (p.Gly280Ser) c.982G>A (p.Gly328Ser) c.*691G>A (n.*691G>A) c.964G>A (p.Gly322Ser) c.1024G>A (p.Gly342Ser) n.900G>A c.946G>A (p.Gly316Ser) c.1216G>A (p.Gly406Ser) c.1225G>A (p.Gly409Ser) c.571G>A (p.Gly191Ser) c.1015G>A (p.Gly339Ser) | ClinVar |
| 9 | g.135765076G>C | CA375499971 | KCNT1 | c.1081G>C (p.Gly361Arg) c.922G>C (p.Gly308Arg) c.829G>C (p.Gly277Arg) c.838G>C (p.Gly280Arg) c.982G>C (p.Gly328Arg) c.*691G>C (n.*691G>C) c.964G>C (p.Gly322Arg) c.1024G>C (p.Gly342Arg) n.900G>C c.946G>C (p.Gly316Arg) c.1216G>C (p.Gly406Arg) c.1225G>C (p.Gly409Arg) c.571G>C (p.Gly191Arg) c.1015G>C (p.Gly339Arg) | |
| 9 | g.135765076G>T | CA375499972 | KCNT1 | c.1081G>T (p.Gly361Cys) c.922G>T (p.Gly308Cys) c.829G>T (p.Gly277Cys) c.838G>T (p.Gly280Cys) c.982G>T (p.Gly328Cys) c.*691G>T (n.*691G>T) c.964G>T (p.Gly322Cys) c.1024G>T (p.Gly342Cys) n.900G>T c.946G>T (p.Gly316Cys) c.1216G>T (p.Gly406Cys) c.1225G>T (p.Gly409Cys) c.571G>T (p.Gly191Cys) c.1015G>T (p.Gly339Cys) | COSMIC COSMIC |
| 9 | g.135765077G>A | CA375499976 | KCNT1 | c.1082G>A (p.Gly361Asp) c.923G>A (p.Gly308Asp) c.830G>A (p.Gly277Asp) c.839G>A (p.Gly280Asp) c.983G>A (p.Gly328Asp) c.*692G>A (n.*692G>A) c.965G>A (p.Gly322Asp) c.1025G>A (p.Gly342Asp) n.901G>A c.947G>A (p.Gly316Asp) c.1217G>A (p.Gly406Asp) c.1226G>A (p.Gly409Asp) c.572G>A (p.Gly191Asp) c.1016G>A (p.Gly339Asp) | gnomAD v4 |
| 9 | g.135765077G>C | CA375499978 | KCNT1 | c.1082G>C (p.Gly361Ala) c.923G>C (p.Gly308Ala) c.830G>C (p.Gly277Ala) c.839G>C (p.Gly280Ala) c.983G>C (p.Gly328Ala) c.*692G>C (n.*692G>C) c.965G>C (p.Gly322Ala) c.1025G>C (p.Gly342Ala) n.901G>C c.947G>C (p.Gly316Ala) c.1217G>C (p.Gly406Ala) c.1226G>C (p.Gly409Ala) c.572G>C (p.Gly191Ala) c.1016G>C (p.Gly339Ala) | |
| 9 | g.135765077G>T | CA375499974 | KCNT1 | c.1082G>T (p.Gly361Val) c.923G>T (p.Gly308Val) c.830G>T (p.Gly277Val) c.839G>T (p.Gly280Val) c.983G>T (p.Gly328Val) c.*692G>T (n.*692G>T) c.965G>T (p.Gly322Val) c.1025G>T (p.Gly342Val) n.901G>T c.947G>T (p.Gly316Val) c.1217G>T (p.Gly406Val) c.1226G>T (p.Gly409Val) c.572G>T (p.Gly191Val) c.1016G>T (p.Gly339Val) | |
| 9 | g.135765078C>A | CA467698018 | KCNT1 | c.1083C>A (p.Gly361=) c.924C>A (p.Gly308=) c.831C>A (p.Gly277=) c.840C>A (p.Gly280=) c.984C>A (p.Gly328=) c.*693C>A (n.*693C>A) c.966C>A (p.Gly322=) c.1026C>A (p.Gly342=) n.902C>A c.948C>A (p.Gly316=) c.1218C>A (p.Gly406=) c.1227C>A (p.Gly409=) c.573C>A (p.Gly191=) c.1017C>A (p.Gly339=) | dbSNP |
| 9 | g.135765078C= | CA1883866303 | KCNT1 | c.1083C= (p.Gly361=) c.924C= (p.Gly308=) c.831C= (p.Gly277=) c.840C= (p.Gly280=) c.984C= (p.Gly328=) c.*693C= (n.*693C=) c.966C= (p.Gly322=) c.1026C= (p.Gly342=) n.902C= c.948C= (p.Gly316=) c.1218C= (p.Gly406=) c.1227C= (p.Gly409=) c.573C= (p.Gly191=) c.1017C= (p.Gly339=) | |
| 9 | g.135765078C>G | CA467698020 | KCNT1 | c.1083C>G (p.Gly361=) c.924C>G (p.Gly308=) c.831C>G (p.Gly277=) c.840C>G (p.Gly280=) c.984C>G (p.Gly328=) c.*693C>G (n.*693C>G) c.966C>G (p.Gly322=) c.1026C>G (p.Gly342=) n.902C>G c.948C>G (p.Gly316=) c.1218C>G (p.Gly406=) c.1227C>G (p.Gly409=) c.573C>G (p.Gly191=) c.1017C>G (p.Gly339=) | |
| 9 | g.135765078C>T | CA467698019 | KCNT1 | c.1083C>T (p.Gly361=) c.924C>T (p.Gly308=) c.831C>T (p.Gly277=) c.840C>T (p.Gly280=) c.984C>T (p.Gly328=) c.*693C>T (n.*693C>T) c.966C>T (p.Gly322=) c.1026C>T (p.Gly342=) n.902C>T c.948C>T (p.Gly316=) c.1218C>T (p.Gly406=) c.1227C>T (p.Gly409=) c.573C>T (p.Gly191=) c.1017C>T (p.Gly339=) | dbSNP gnomAD v4 |
| 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) |