Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.135750145T>ACA375494792KCNT1c.302T>A (p.Leu101His)
n.107T>A
n.37T>A
c.143T>A (p.Leu48His)
c.50T>A (p.Leu17His)
c.203T>A (p.Leu68His)
c.185T>A (p.Leu62His)
c.245T>A (p.Leu82His)
c.158T>A (p.Leu53His)
c.437T>A (p.Leu146His)
c.327T>A (p.Ala109=)
c.-118T>A (n.-118T>A)
c.-218T>A (n.-218T>A)
9g.135750145T>CCA375494794KCNT1c.302T>C (p.Leu101Pro)
n.107T>C
n.37T>C
c.143T>C (p.Leu48Pro)
c.50T>C (p.Leu17Pro)
c.203T>C (p.Leu68Pro)
c.185T>C (p.Leu62Pro)
c.245T>C (p.Leu82Pro)
c.158T>C (p.Leu53Pro)
c.437T>C (p.Leu146Pro)
c.327T>C (p.Ala109=)
c.-118T>C (n.-118T>C)
c.-218T>C (n.-218T>C)
 gnomAD v4
9g.135750145T>GCA375494793KCNT1c.302T>G (p.Leu101Arg)
n.107T>G
n.37T>G
c.143T>G (p.Leu48Arg)
c.50T>G (p.Leu17Arg)
c.203T>G (p.Leu68Arg)
c.185T>G (p.Leu62Arg)
c.245T>G (p.Leu82Arg)
c.158T>G (p.Leu53Arg)
c.437T>G (p.Leu146Arg)
c.327T>G (p.Ala109=)
c.-118T>G (n.-118T>G)
c.-218T>G (n.-218T>G)
9g.135750146C>ACA467685648KCNT1c.303C>A (p.Leu101=)
n.108C>A
n.38C>A
c.144C>A (p.Leu48=)
c.51C>A (p.Leu17=)
c.204C>A (p.Leu68=)
c.186C>A (p.Leu62=)
c.246C>A (p.Leu82=)
c.159C>A (p.Leu53=)
c.438C>A (p.Leu146=)
c.328C>A (p.Gln110Lys)
c.-117C>A (n.-117C>A)
c.-217C>A (n.-217C>A)
9g.135750146C=CA1883843330KCNT1c.303C= (p.Leu101=)
n.108C=
n.38C=
c.144C= (p.Leu48=)
c.51C= (p.Leu17=)
c.204C= (p.Leu68=)
c.186C= (p.Leu62=)
c.246C= (p.Leu82=)
c.159C= (p.Leu53=)
c.438C= (p.Leu146=)
c.328C= (p.Gln110=)
c.-117C= (n.-117C=)
c.-217C= (n.-217C=)
9g.135750146C>GCA467685647KCNT1c.303C>G (p.Leu101=)
n.108C>G
n.38C>G
c.144C>G (p.Leu48=)
c.51C>G (p.Leu17=)
c.204C>G (p.Leu68=)
c.186C>G (p.Leu62=)
c.246C>G (p.Leu82=)
c.159C>G (p.Leu53=)
c.438C>G (p.Leu146=)
c.328C>G (p.Gln110Glu)
c.-117C>G (n.-117C>G)
c.-217C>G (n.-217C>G)
 gnomAD v4
9g.135750146C>TCA201449515KCNT1c.303C>T (p.Leu101=)
n.108C>T
n.38C>T
c.144C>T (p.Leu48=)
c.51C>T (p.Leu17=)
c.204C>T (p.Leu68=)
c.186C>T (p.Leu62=)
c.246C>T (p.Leu82=)
c.159C>T (p.Leu53=)
c.438C>T (p.Leu146=)
c.328C>T (p.Gln110Ter)
c.-117C>T (n.-117C>T)
c.-217C>T (n.-217C>T)
 dbSNP
9g.135750147A=CA1883843333KCNT1c.304A= (p.Lys102=)
n.109A=
n.39A=
c.145A= (p.Lys49=)
c.52A= (p.Lys18=)
c.205A= (p.Lys69=)
c.187A= (p.Lys63=)
c.247A= (p.Lys83=)
c.160A= (p.Lys54=)
c.439A= (p.Lys147=)
c.329A= (p.Gln110=)
c.-116A= (n.-116A=)
c.-216A= (n.-216A=)
9g.135750147A>CCA375494797KCNT1c.304A>C (p.Lys102Gln)
n.109A>C
n.39A>C
c.145A>C (p.Lys49Gln)
c.52A>C (p.Lys18Gln)
c.205A>C (p.Lys69Gln)
c.187A>C (p.Lys63Gln)
c.247A>C (p.Lys83Gln)
c.160A>C (p.Lys54Gln)
c.439A>C (p.Lys147Gln)
c.329A>C (p.Gln110Pro)
c.-116A>C (n.-116A>C)
c.-216A>C (n.-216A>C)
9g.135750147A>GCA375494795KCNT1c.304A>G (p.Lys102Glu)
n.109A>G
n.39A>G
c.145A>G (p.Lys49Glu)
c.52A>G (p.Lys18Glu)
c.205A>G (p.Lys69Glu)
c.187A>G (p.Lys63Glu)
c.247A>G (p.Lys83Glu)
c.160A>G (p.Lys54Glu)
c.439A>G (p.Lys147Glu)
c.329A>G (p.Gln110Arg)
c.-116A>G (n.-116A>G)
c.-216A>G (n.-216A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135750147A>TCA375494796KCNT1c.304A>T (p.Lys102Ter)
n.109A>T
n.39A>T
c.145A>T (p.Lys49Ter)
c.52A>T (p.Lys18Ter)
c.205A>T (p.Lys69Ter)
c.187A>T (p.Lys63Ter)
c.247A>T (p.Lys83Ter)
c.160A>T (p.Lys54Ter)
c.439A>T (p.Lys147Ter)
c.329A>T (p.Gln110Leu)
c.-116A>T (n.-116A>T)
c.-216A>T (n.-216A>T)
9g.135750148A>CCA375494798KCNT1c.305A>C (p.Lys102Thr)
n.110A>C
n.40A>C
c.146A>C (p.Lys49Thr)
c.53A>C (p.Lys18Thr)
c.206A>C (p.Lys69Thr)
c.188A>C (p.Lys63Thr)
c.248A>C (p.Lys83Thr)
c.161A>C (p.Lys54Thr)
c.440A>C (p.Lys147Thr)
c.330A>C (p.Gln110His)
c.-115A>C (n.-115A>C)
c.-215A>C (n.-215A>C)
9g.135750148A>GCA375494799KCNT1c.305A>G (p.Lys102Arg)
n.110A>G
n.40A>G
c.146A>G (p.Lys49Arg)
c.53A>G (p.Lys18Arg)
c.206A>G (p.Lys69Arg)
c.188A>G (p.Lys63Arg)
c.248A>G (p.Lys83Arg)
c.161A>G (p.Lys54Arg)
c.440A>G (p.Lys147Arg)
c.330A>G (p.Gln110=)
c.-115A>G (n.-115A>G)
c.-215A>G (n.-215A>G)
 COSMIC COSMIC
9g.135750148A>TCA375494800KCNT1c.305A>T (p.Lys102Met)
n.110A>T
n.40A>T
c.146A>T (p.Lys49Met)
c.53A>T (p.Lys18Met)
c.206A>T (p.Lys69Met)
c.188A>T (p.Lys63Met)
c.248A>T (p.Lys83Met)
c.161A>T (p.Lys54Met)
c.440A>T (p.Lys147Met)
c.330A>T (p.Gln110His)
c.-115A>T (n.-115A>T)
c.-215A>T (n.-215A>T)
9g.135750149G>ACA467685652KCNT1c.306G>A (p.Lys102=)
n.111G>A
n.41G>A
c.147G>A (p.Lys49=)
c.54G>A (p.Lys18=)
c.207G>A (p.Lys69=)
c.189G>A (p.Lys63=)
c.249G>A (p.Lys83=)
c.162G>A (p.Lys54=)
c.441G>A (p.Lys147=)
c.331G>A (p.Ala111Thr)
c.-114G>A (n.-114G>A)
c.-214G>A (n.-214G>A)
9g.135750149G>CCA375494801KCNT1c.306G>C (p.Lys102Asn)
n.111G>C
n.41G>C
c.147G>C (p.Lys49Asn)
c.54G>C (p.Lys18Asn)
c.207G>C (p.Lys69Asn)
c.189G>C (p.Lys63Asn)
c.249G>C (p.Lys83Asn)
c.162G>C (p.Lys54Asn)
c.441G>C (p.Lys147Asn)
c.331G>C (p.Ala111Pro)
c.-114G>C (n.-114G>C)
c.-214G>C (n.-214G>C)
9g.135750149G>TCA375494802KCNT1c.306G>T (p.Lys102Asn)
n.111G>T
n.41G>T
c.147G>T (p.Lys49Asn)
c.54G>T (p.Lys18Asn)
c.207G>T (p.Lys69Asn)
c.189G>T (p.Lys63Asn)
c.249G>T (p.Lys83Asn)
c.162G>T (p.Lys54Asn)
c.441G>T (p.Lys147Asn)
c.331G>T (p.Ala111Ser)
c.-114G>T (n.-114G>T)
c.-214G>T (n.-214G>T)
9g.135750150C>ACA375494803KCNT1c.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)
9g.135750150C>GCA375494804KCNT1c.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)
9g.135750150C>TCA467685654KCNT1c.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
9g.135750151T>ACA375494805KCNT1c.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)
9g.135750151T>CCA375494806KCNT1c.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)
9g.135750151T>GCA375494807KCNT1c.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)
9g.135750152G>ACA467685657KCNT1c.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
9g.135750152G>CCA467685659KCNT1c.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)
9g.135750152G=CA1883843339KCNT1c.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=)
9g.135750152G>TCA5326362KCNT1c.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
9g.135750153T>ACA375494810KCNT1c.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)
9g.135750153T>CCA375494809KCNT1c.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)
9g.135750153T>GCA375494808KCNT1c.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)
9g.135750156_135750158delCA2720685661KCNT1c.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
9g.135750154T>ACA375494811KCNT1c.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)
9g.135750154T>CCA375494812KCNT1c.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)
9g.135750154T>GCA375494813KCNT1c.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)
9g.135750155C>ACA375494814KCNT1c.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)
9g.135750155C>GCA375494815KCNT1c.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)
9g.135750155C>TCA467685663KCNT1c.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
9g.135750156T>ACA375494816KCNT1c.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)
9g.135750156T>CCA375494817KCNT1c.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
9g.135750156T>GCA375494818KCNT1c.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)
9g.135750157T>ACA375494819KCNT1c.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)
9g.135750157T>CCA375494820KCNT1c.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)
9g.135750157T>GCA375494821KCNT1c.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)
9g.135750158C>ACA375494822KCNT1c.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)
9g.135750158C>GCA375494823KCNT1c.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)
9g.135750158C>TCA467685671KCNT1c.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)
9g.135750159A>CCA375494825KCNT1c.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)
9g.135750159A>GCA375494826KCNT1c.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)
9g.135750159A>TCA375494824KCNT1c.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)
9g.135750160T>ACA375494827KCNT1c.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)

Number of alleles fetched