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.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.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=) | ClinVar 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) | |
| 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 |