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.135750150C>A | CA375494803 | KCNT1 | c.307C>A (p.Leu103Met) n.112C>A n.42C>A c.148C>A (p.Leu50Met) c.55C>A (p.Leu19Met) c.208C>A (p.Leu70Met) c.190C>A (p.Leu64Met) c.250C>A (p.Leu84Met) c.163C>A (p.Leu55Met) c.442C>A (p.Leu148Met) c.332C>A (p.Ala111Asp) c.-113C>A (n.-113C>A) c.-213C>A (n.-213C>A) | |
| 9 | g.135750150C>G | CA375494804 | KCNT1 | c.307C>G (p.Leu103Val) n.112C>G n.42C>G c.148C>G (p.Leu50Val) c.55C>G (p.Leu19Val) c.208C>G (p.Leu70Val) c.190C>G (p.Leu64Val) c.250C>G (p.Leu84Val) c.163C>G (p.Leu55Val) c.442C>G (p.Leu148Val) c.332C>G (p.Ala111Gly) c.-113C>G (n.-113C>G) c.-213C>G (n.-213C>G) | |
| 9 | g.135750150C>T | CA467685654 | KCNT1 | c.307C>T (p.Leu103=) n.112C>T n.42C>T c.148C>T (p.Leu50=) c.55C>T (p.Leu19=) c.208C>T (p.Leu70=) c.190C>T (p.Leu64=) c.250C>T (p.Leu84=) c.163C>T (p.Leu55=) c.442C>T (p.Leu148=) c.332C>T (p.Ala111Val) c.-113C>T (n.-113C>T) c.-213C>T (n.-213C>T) | gnomAD v4 |
| 9 | g.135750151T>A | CA375494805 | KCNT1 | c.308T>A (p.Leu103Gln) n.113T>A n.43T>A c.149T>A (p.Leu50Gln) c.56T>A (p.Leu19Gln) c.209T>A (p.Leu70Gln) c.191T>A (p.Leu64Gln) c.251T>A (p.Leu84Gln) c.164T>A (p.Leu55Gln) c.443T>A (p.Leu148Gln) c.333T>A (p.Ala111=) c.-112T>A (n.-112T>A) c.-212T>A (n.-212T>A) | |
| 9 | g.135750151T>C | CA375494806 | KCNT1 | c.308T>C (p.Leu103Pro) n.113T>C n.43T>C c.149T>C (p.Leu50Pro) c.56T>C (p.Leu19Pro) c.209T>C (p.Leu70Pro) c.191T>C (p.Leu64Pro) c.251T>C (p.Leu84Pro) c.164T>C (p.Leu55Pro) c.443T>C (p.Leu148Pro) c.333T>C (p.Ala111=) c.-112T>C (n.-112T>C) c.-212T>C (n.-212T>C) | |
| 9 | g.135750151T>G | CA375494807 | KCNT1 | c.308T>G (p.Leu103Arg) n.113T>G n.43T>G c.149T>G (p.Leu50Arg) c.56T>G (p.Leu19Arg) c.209T>G (p.Leu70Arg) c.191T>G (p.Leu64Arg) c.251T>G (p.Leu84Arg) c.164T>G (p.Leu55Arg) c.443T>G (p.Leu148Arg) c.333T>G (p.Ala111=) c.-112T>G (n.-112T>G) c.-212T>G (n.-212T>G) | |
| 9 | g.135750152G>A | CA467685657 | KCNT1 | c.309G>A (p.Leu103=) n.114G>A n.44G>A c.150G>A (p.Leu50=) c.57G>A (p.Leu19=) c.210G>A (p.Leu70=) c.192G>A (p.Leu64=) c.252G>A (p.Leu84=) c.165G>A (p.Leu55=) c.444G>A (p.Leu148=) c.334G>A (p.Val112Ile) c.-111G>A (n.-111G>A) c.-211G>A (n.-211G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135750152G>C | CA467685659 | KCNT1 | c.309G>C (p.Leu103=) n.114G>C n.44G>C c.150G>C (p.Leu50=) c.57G>C (p.Leu19=) c.210G>C (p.Leu70=) c.192G>C (p.Leu64=) c.252G>C (p.Leu84=) c.165G>C (p.Leu55=) c.444G>C (p.Leu148=) c.334G>C (p.Val112Leu) c.-111G>C (n.-111G>C) c.-211G>C (n.-211G>C) | |
| 9 | g.135750152G= | CA1883843339 | KCNT1 | c.309G= (p.Leu103=) n.114G= n.44G= c.150G= (p.Leu50=) c.57G= (p.Leu19=) c.210G= (p.Leu70=) c.192G= (p.Leu64=) c.252G= (p.Leu84=) c.165G= (p.Leu55=) c.444G= (p.Leu148=) c.334G= (p.Val112=) c.-111G= (n.-111G=) c.-211G= (n.-211G=) | |
| 9 | g.135750152G>T | CA5326362 | KCNT1 | c.309G>T (p.Leu103=) n.114G>T n.44G>T c.150G>T (p.Leu50=) c.57G>T (p.Leu19=) c.210G>T (p.Leu70=) c.192G>T (p.Leu64=) c.252G>T (p.Leu84=) c.165G>T (p.Leu55=) c.444G>T (p.Leu148=) c.334G>T (p.Val112Phe) c.-111G>T (n.-111G>T) c.-211G>T (n.-211G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135750153T>A | CA375494810 | KCNT1 | c.310T>A (p.Phe104Ile) n.115T>A n.45T>A c.151T>A (p.Phe51Ile) c.58T>A (p.Phe20Ile) c.211T>A (p.Phe71Ile) c.193T>A (p.Phe65Ile) c.253T>A (p.Phe85Ile) c.166T>A (p.Phe56Ile) c.445T>A (p.Phe149Ile) c.335T>A (p.Val112Asp) c.-110T>A (n.-110T>A) c.-210T>A (n.-210T>A) | |
| 9 | g.135750153T>C | CA375494809 | KCNT1 | c.310T>C (p.Phe104Leu) n.115T>C n.45T>C c.151T>C (p.Phe51Leu) c.58T>C (p.Phe20Leu) c.211T>C (p.Phe71Leu) c.193T>C (p.Phe65Leu) c.253T>C (p.Phe85Leu) c.166T>C (p.Phe56Leu) c.445T>C (p.Phe149Leu) c.335T>C (p.Val112Ala) c.-110T>C (n.-110T>C) c.-210T>C (n.-210T>C) | |
| 9 | g.135750153T>G | CA375494808 | KCNT1 | c.310T>G (p.Phe104Val) n.115T>G n.45T>G c.151T>G (p.Phe51Val) c.58T>G (p.Phe20Val) c.211T>G (p.Phe71Val) c.193T>G (p.Phe65Val) c.253T>G (p.Phe85Val) c.166T>G (p.Phe56Val) c.445T>G (p.Phe149Val) c.335T>G (p.Val112Gly) c.-110T>G (n.-110T>G) c.-210T>G (n.-210T>G) | |
| 9 | g.135750156_135750158del | CA2720685661 | KCNT1 | c.313_315del (p.Phe105del) n.118_120del n.48_50del c.154_156del (p.Phe52del) c.61_63del (p.Phe21del) c.214_216del (p.Phe72del) c.196_198del (p.Phe66del) c.256_258del (p.Phe86del) c.169_171del (p.Phe57del) c.448_450del (p.Phe150del) c.338_340del (p.Leu113del) c.-107_-105del (n.-107_-105del) c.-207_-205del (n.-207_-205del) | dbSNP |
| 9 | g.135750154T>A | CA375494811 | KCNT1 | c.311T>A (p.Phe104Tyr) n.116T>A n.46T>A c.152T>A (p.Phe51Tyr) c.59T>A (p.Phe20Tyr) c.212T>A (p.Phe71Tyr) c.194T>A (p.Phe65Tyr) c.254T>A (p.Phe85Tyr) c.167T>A (p.Phe56Tyr) c.446T>A (p.Phe149Tyr) c.336T>A (p.Val112=) c.-109T>A (n.-109T>A) c.-209T>A (n.-209T>A) | |
| 9 | g.135750154T>C | CA375494812 | KCNT1 | c.311T>C (p.Phe104Ser) n.116T>C n.46T>C c.152T>C (p.Phe51Ser) c.59T>C (p.Phe20Ser) c.212T>C (p.Phe71Ser) c.194T>C (p.Phe65Ser) c.254T>C (p.Phe85Ser) c.167T>C (p.Phe56Ser) c.446T>C (p.Phe149Ser) c.336T>C (p.Val112=) c.-109T>C (n.-109T>C) c.-209T>C (n.-209T>C) | |
| 9 | g.135750154T>G | CA375494813 | KCNT1 | c.311T>G (p.Phe104Cys) n.116T>G n.46T>G c.152T>G (p.Phe51Cys) c.59T>G (p.Phe20Cys) c.212T>G (p.Phe71Cys) c.194T>G (p.Phe65Cys) c.254T>G (p.Phe85Cys) c.167T>G (p.Phe56Cys) c.446T>G (p.Phe149Cys) c.336T>G (p.Val112=) c.-109T>G (n.-109T>G) c.-209T>G (n.-209T>G) | |
| 9 | g.135750155C>A | CA375494814 | KCNT1 | c.312C>A (p.Phe104Leu) n.117C>A n.47C>A c.153C>A (p.Phe51Leu) c.60C>A (p.Phe20Leu) c.213C>A (p.Phe71Leu) c.195C>A (p.Phe65Leu) c.255C>A (p.Phe85Leu) c.168C>A (p.Phe56Leu) c.447C>A (p.Phe149Leu) c.337C>A (p.Leu113Ile) c.-108C>A (n.-108C>A) c.-208C>A (n.-208C>A) | |
| 9 | g.135750155C>G | CA375494815 | KCNT1 | c.312C>G (p.Phe104Leu) n.117C>G n.47C>G c.153C>G (p.Phe51Leu) c.60C>G (p.Phe20Leu) c.213C>G (p.Phe71Leu) c.195C>G (p.Phe65Leu) c.255C>G (p.Phe85Leu) c.168C>G (p.Phe56Leu) c.447C>G (p.Phe149Leu) c.337C>G (p.Leu113Val) c.-108C>G (n.-108C>G) c.-208C>G (n.-208C>G) | |
| 9 | g.135750155C>T | CA467685663 | KCNT1 | c.312C>T (p.Phe104=) n.117C>T n.47C>T c.153C>T (p.Phe51=) c.60C>T (p.Phe20=) c.213C>T (p.Phe71=) c.195C>T (p.Phe65=) c.255C>T (p.Phe85=) c.168C>T (p.Phe56=) c.447C>T (p.Phe149=) c.337C>T (p.Leu113Phe) c.-108C>T (n.-108C>T) c.-208C>T (n.-208C>T) | gnomAD v4 |
| 9 | g.135750156T>A | CA375494816 | KCNT1 | c.313T>A (p.Phe105Ile) n.118T>A n.48T>A c.154T>A (p.Phe52Ile) c.61T>A (p.Phe21Ile) c.214T>A (p.Phe72Ile) c.196T>A (p.Phe66Ile) c.256T>A (p.Phe86Ile) c.169T>A (p.Phe57Ile) c.448T>A (p.Phe150Ile) c.338T>A (p.Leu113His) c.-107T>A (n.-107T>A) c.-207T>A (n.-207T>A) | |
| 9 | g.135750156T>C | CA375494817 | KCNT1 | c.313T>C (p.Phe105Leu) n.118T>C n.48T>C c.154T>C (p.Phe52Leu) c.61T>C (p.Phe21Leu) c.214T>C (p.Phe72Leu) c.196T>C (p.Phe66Leu) c.256T>C (p.Phe86Leu) c.169T>C (p.Phe57Leu) c.448T>C (p.Phe150Leu) c.338T>C (p.Leu113Pro) c.-107T>C (n.-107T>C) c.-207T>C (n.-207T>C) | COSMIC |
| 9 | g.135750156T>G | CA375494818 | KCNT1 | c.313T>G (p.Phe105Val) n.118T>G n.48T>G c.154T>G (p.Phe52Val) c.61T>G (p.Phe21Val) c.214T>G (p.Phe72Val) c.196T>G (p.Phe66Val) c.256T>G (p.Phe86Val) c.169T>G (p.Phe57Val) c.448T>G (p.Phe150Val) c.338T>G (p.Leu113Arg) c.-107T>G (n.-107T>G) c.-207T>G (n.-207T>G) | |
| 9 | g.135750157T>A | CA375494819 | KCNT1 | c.314T>A (p.Phe105Tyr) n.119T>A n.49T>A c.155T>A (p.Phe52Tyr) c.62T>A (p.Phe21Tyr) c.215T>A (p.Phe72Tyr) c.197T>A (p.Phe66Tyr) c.257T>A (p.Phe86Tyr) c.170T>A (p.Phe57Tyr) c.449T>A (p.Phe150Tyr) c.339T>A (p.Leu113=) c.-106T>A (n.-106T>A) c.-206T>A (n.-206T>A) | |
| 9 | g.135750157T>C | CA375494820 | KCNT1 | c.314T>C (p.Phe105Ser) n.119T>C n.49T>C c.155T>C (p.Phe52Ser) c.62T>C (p.Phe21Ser) c.215T>C (p.Phe72Ser) c.197T>C (p.Phe66Ser) c.257T>C (p.Phe86Ser) c.170T>C (p.Phe57Ser) c.449T>C (p.Phe150Ser) c.339T>C (p.Leu113=) c.-106T>C (n.-106T>C) c.-206T>C (n.-206T>C) | |
| 9 | g.135750157T>G | CA375494821 | KCNT1 | c.314T>G (p.Phe105Cys) n.119T>G n.49T>G c.155T>G (p.Phe52Cys) c.62T>G (p.Phe21Cys) c.215T>G (p.Phe72Cys) c.197T>G (p.Phe66Cys) c.257T>G (p.Phe86Cys) c.170T>G (p.Phe57Cys) c.449T>G (p.Phe150Cys) c.339T>G (p.Leu113=) c.-106T>G (n.-106T>G) c.-206T>G (n.-206T>G) | |
| 9 | g.135750158C>A | CA375494822 | KCNT1 | c.315C>A (p.Phe105Leu) n.120C>A n.50C>A c.156C>A (p.Phe52Leu) c.63C>A (p.Phe21Leu) c.216C>A (p.Phe72Leu) c.198C>A (p.Phe66Leu) c.258C>A (p.Phe86Leu) c.171C>A (p.Phe57Leu) c.450C>A (p.Phe150Leu) c.340C>A (p.His114Asn) c.-105C>A (n.-105C>A) c.-205C>A (n.-205C>A) | |
| 9 | g.135750158C>G | CA375494823 | KCNT1 | c.315C>G (p.Phe105Leu) n.120C>G n.50C>G c.156C>G (p.Phe52Leu) c.63C>G (p.Phe21Leu) c.216C>G (p.Phe72Leu) c.198C>G (p.Phe66Leu) c.258C>G (p.Phe86Leu) c.171C>G (p.Phe57Leu) c.450C>G (p.Phe150Leu) c.340C>G (p.His114Asp) c.-105C>G (n.-105C>G) c.-205C>G (n.-205C>G) | |
| 9 | g.135750158C>T | CA467685671 | KCNT1 | c.315C>T (p.Phe105=) n.120C>T n.50C>T c.156C>T (p.Phe52=) c.63C>T (p.Phe21=) c.216C>T (p.Phe72=) c.198C>T (p.Phe66=) c.258C>T (p.Phe86=) c.171C>T (p.Phe57=) c.450C>T (p.Phe150=) c.340C>T (p.His114Tyr) c.-105C>T (n.-105C>T) c.-205C>T (n.-205C>T) | |
| 9 | g.135750159A>C | CA375494825 | KCNT1 | c.316A>C (p.Ile106Leu) n.121A>C n.51A>C c.157A>C (p.Ile53Leu) c.64A>C (p.Ile22Leu) c.217A>C (p.Ile73Leu) c.199A>C (p.Ile67Leu) c.259A>C (p.Ile87Leu) c.172A>C (p.Ile58Leu) c.451A>C (p.Ile151Leu) c.341A>C (p.His114Pro) c.-104A>C (n.-104A>C) c.-204A>C (n.-204A>C) | |
| 9 | g.135750159A>G | CA375494826 | KCNT1 | c.316A>G (p.Ile106Val) n.121A>G n.51A>G c.157A>G (p.Ile53Val) c.64A>G (p.Ile22Val) c.217A>G (p.Ile73Val) c.199A>G (p.Ile67Val) c.259A>G (p.Ile87Val) c.172A>G (p.Ile58Val) c.451A>G (p.Ile151Val) c.341A>G (p.His114Arg) c.-104A>G (n.-104A>G) c.-204A>G (n.-204A>G) | |
| 9 | g.135750159A>T | CA375494824 | KCNT1 | c.316A>T (p.Ile106Phe) n.121A>T n.51A>T c.157A>T (p.Ile53Phe) c.64A>T (p.Ile22Phe) c.217A>T (p.Ile73Phe) c.199A>T (p.Ile67Phe) c.259A>T (p.Ile87Phe) c.172A>T (p.Ile58Phe) c.451A>T (p.Ile151Phe) c.341A>T (p.His114Leu) c.-104A>T (n.-104A>T) c.-204A>T (n.-204A>T) | |
| 9 | g.135750160T>A | CA375494827 | KCNT1 | c.317T>A (p.Ile106Asn) n.122T>A n.52T>A c.158T>A (p.Ile53Asn) c.65T>A (p.Ile22Asn) c.218T>A (p.Ile73Asn) c.200T>A (p.Ile67Asn) c.260T>A (p.Ile87Asn) c.173T>A (p.Ile58Asn) c.452T>A (p.Ile151Asn) c.342T>A (p.His114Gln) c.-103T>A (n.-103T>A) c.-203T>A (n.-203T>A) | |
| 9 | g.135750160T>C | CA375494828 | KCNT1 | c.317T>C (p.Ile106Thr) n.122T>C n.52T>C c.158T>C (p.Ile53Thr) c.65T>C (p.Ile22Thr) c.218T>C (p.Ile73Thr) c.200T>C (p.Ile67Thr) c.260T>C (p.Ile87Thr) c.173T>C (p.Ile58Thr) c.452T>C (p.Ile151Thr) c.342T>C (p.His114=) c.-103T>C (n.-103T>C) c.-203T>C (n.-203T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135750160T>G | CA375494829 | KCNT1 | c.317T>G (p.Ile106Ser) n.122T>G n.52T>G c.158T>G (p.Ile53Ser) c.65T>G (p.Ile22Ser) c.218T>G (p.Ile73Ser) c.200T>G (p.Ile67Ser) c.260T>G (p.Ile87Ser) c.173T>G (p.Ile58Ser) c.452T>G (p.Ile151Ser) c.342T>G (p.His114Gln) c.-103T>G (n.-103T>G) c.-203T>G (n.-203T>G) | |
| 9 | g.135750160T= | CA1883843346 | KCNT1 | c.317T= (p.Ile106=) n.122T= n.52T= c.158T= (p.Ile53=) c.65T= (p.Ile22=) c.218T= (p.Ile73=) c.200T= (p.Ile67=) c.260T= (p.Ile87=) c.173T= (p.Ile58=) c.452T= (p.Ile151=) c.342T= (p.His114=) c.-103T= (n.-103T=) c.-203T= (n.-203T=) | |
| 9 | g.135750161C>A | CA467685673 | KCNT1 | c.318C>A (p.Ile106=) n.123C>A n.53C>A c.159C>A (p.Ile53=) c.66C>A (p.Ile22=) c.219C>A (p.Ile73=) c.201C>A (p.Ile67=) c.261C>A (p.Ile87=) c.174C>A (p.Ile58=) c.453C>A (p.Ile151=) c.343C>A (p.Gln115Lys) c.-102C>A (n.-102C>A) c.-202C>A (n.-202C>A) | COSMIC COSMIC |
| 9 | g.135750161C= | CA1883843352 | KCNT1 | c.318C= (p.Ile106=) n.123C= n.53C= c.159C= (p.Ile53=) c.66C= (p.Ile22=) c.219C= (p.Ile73=) c.201C= (p.Ile67=) c.261C= (p.Ile87=) c.174C= (p.Ile58=) c.453C= (p.Ile151=) c.343C= (p.Gln115=) c.-102C= (n.-102C=) c.-202C= (n.-202C=) | |
| 9 | g.135750161C>G | CA375494830 | KCNT1 | c.318C>G (p.Ile106Met) n.123C>G n.53C>G c.159C>G (p.Ile53Met) c.66C>G (p.Ile22Met) c.219C>G (p.Ile73Met) c.201C>G (p.Ile67Met) c.261C>G (p.Ile87Met) c.174C>G (p.Ile58Met) c.453C>G (p.Ile151Met) c.343C>G (p.Gln115Glu) c.-102C>G (n.-102C>G) c.-202C>G (n.-202C>G) | |
| 9 | g.135750161C>T | CA201449523 | KCNT1 | c.318C>T (p.Ile106=) n.123C>T n.53C>T c.159C>T (p.Ile53=) c.66C>T (p.Ile22=) c.219C>T (p.Ile73=) c.201C>T (p.Ile67=) c.261C>T (p.Ile87=) c.174C>T (p.Ile58=) c.453C>T (p.Ile151=) c.343C>T (p.Gln115Ter) c.-102C>T (n.-102C>T) c.-202C>T (n.-202C>T) | dbSNP |
| 9 | g.135750162A>C | CA375494831 | KCNT1 | c.319A>C (p.Lys107Gln) n.124A>C n.54A>C c.160A>C (p.Lys54Gln) c.67A>C (p.Lys23Gln) c.220A>C (p.Lys74Gln) c.202A>C (p.Lys68Gln) c.262A>C (p.Lys88Gln) c.175A>C (p.Lys59Gln) c.454A>C (p.Lys152Gln) c.344A>C (p.Gln115Pro) c.-101A>C (n.-101A>C) c.-201A>C (n.-201A>C) | COSMIC COSMIC |
| 9 | g.135750162A>G | CA375494832 | KCNT1 | c.319A>G (p.Lys107Glu) n.124A>G n.54A>G c.160A>G (p.Lys54Glu) c.67A>G (p.Lys23Glu) c.220A>G (p.Lys74Glu) c.202A>G (p.Lys68Glu) c.262A>G (p.Lys88Glu) c.175A>G (p.Lys59Glu) c.454A>G (p.Lys152Glu) c.344A>G (p.Gln115Arg) c.-101A>G (n.-101A>G) c.-201A>G (n.-201A>G) | |
| 9 | g.135750162A>T | CA375494833 | KCNT1 | c.319A>T (p.Lys107Ter) n.124A>T n.54A>T c.160A>T (p.Lys54Ter) c.67A>T (p.Lys23Ter) c.220A>T (p.Lys74Ter) c.202A>T (p.Lys68Ter) c.262A>T (p.Lys88Ter) c.175A>T (p.Lys59Ter) c.454A>T (p.Lys152Ter) c.344A>T (p.Gln115Leu) c.-101A>T (n.-101A>T) c.-201A>T (n.-201A>T) | |
| 9 | g.135750163A= | CA1883843359 | KCNT1 | c.320A= (p.Lys107=) n.125A= n.55A= c.161A= (p.Lys54=) c.68A= (p.Lys23=) c.221A= (p.Lys74=) c.203A= (p.Lys68=) c.263A= (p.Lys88=) c.176A= (p.Lys59=) c.455A= (p.Lys152=) c.345A= (p.Gln115=) c.-100A= (n.-100A=) c.-200A= (n.-200A=) | |
| 9 | g.135750163A>C | CA375494834 | KCNT1 | c.320A>C (p.Lys107Thr) n.125A>C n.55A>C c.161A>C (p.Lys54Thr) c.68A>C (p.Lys23Thr) c.221A>C (p.Lys74Thr) c.203A>C (p.Lys68Thr) c.263A>C (p.Lys88Thr) c.176A>C (p.Lys59Thr) c.455A>C (p.Lys152Thr) c.345A>C (p.Gln115His) c.-100A>C (n.-100A>C) c.-200A>C (n.-200A>C) | |
| 9 | g.135750163A>G | CA375494835 | KCNT1 | c.320A>G (p.Lys107Arg) n.125A>G n.55A>G c.161A>G (p.Lys54Arg) c.68A>G (p.Lys23Arg) c.221A>G (p.Lys74Arg) c.203A>G (p.Lys68Arg) c.263A>G (p.Lys88Arg) c.176A>G (p.Lys59Arg) c.455A>G (p.Lys152Arg) c.345A>G (p.Gln115=) c.-100A>G (n.-100A>G) c.-200A>G (n.-200A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135750163A>T | CA375494836 | KCNT1 | c.320A>T (p.Lys107Ile) n.125A>T n.55A>T c.161A>T (p.Lys54Ile) c.68A>T (p.Lys23Ile) c.221A>T (p.Lys74Ile) c.203A>T (p.Lys68Ile) c.263A>T (p.Lys88Ile) c.176A>T (p.Lys59Ile) c.455A>T (p.Lys152Ile) c.345A>T (p.Gln115His) c.-100A>T (n.-100A>T) c.-200A>T (n.-200A>T) | |
| 9 | g.135750165_135750166insCCCAAA | CA2786246900 | KCNT1 | c.322_323insCCCAAA (p.Lys107_Asn108insThrGln) n.127_128insCCCAAA n.57_58insCCCAAA c.163_164insCCCAAA (p.Lys54_Asn55insThrGln) c.70_71insCCCAAA (p.Lys23_Asn24insThrGln) c.223_224insCCCAAA (p.Lys74_Asn75insThrGln) c.205_206insCCCAAA (p.Lys68_Asn69insThrGln) c.265_266insCCCAAA (p.Lys88_Asn89insThrGln) c.178_179insCCCAAA (p.Lys59_Asn60insThrGln) c.457_458insCCCAAA (p.Lys152_Asn153insThrGln) c.347_348insCCCAAA (p.Gln115_Lys116insAsnPro) c.-98_-97insCCCAAA (n.-98_-97insCCCAAA) c.-198_-197insCCCAAA (n.-198_-197insCCCAAA) | |
| 9 | g.135750164A>C | CA375494837 | KCNT1 | c.321A>C (p.Lys107Asn) n.126A>C n.56A>C c.162A>C (p.Lys54Asn) c.69A>C (p.Lys23Asn) c.222A>C (p.Lys74Asn) c.204A>C (p.Lys68Asn) c.264A>C (p.Lys88Asn) c.177A>C (p.Lys59Asn) c.456A>C (p.Lys152Asn) c.346A>C (p.Lys116Gln) c.-99A>C (n.-99A>C) c.-199A>C (n.-199A>C) | |
| 9 | g.135750164A>G | CA467685677 | KCNT1 | c.321A>G (p.Lys107=) n.126A>G n.56A>G c.162A>G (p.Lys54=) c.69A>G (p.Lys23=) c.222A>G (p.Lys74=) c.204A>G (p.Lys68=) c.264A>G (p.Lys88=) c.177A>G (p.Lys59=) c.456A>G (p.Lys152=) c.346A>G (p.Lys116Glu) c.-99A>G (n.-99A>G) c.-199A>G (n.-199A>G) |