Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.135765033C>ACA375499795KCNT1c.1038C>A (p.Phe346Leu)
c.879C>A (p.Phe293Leu)
c.786C>A (p.Phe262Leu)
c.795C>A (p.Phe265Leu)
c.939C>A (p.Phe313Leu)
c.*648C>A (n.*648C>A)
c.921C>A (p.Phe307Leu)
c.981C>A (p.Phe327Leu)
n.857C>A
c.903C>A (p.Phe301Leu)
c.1173C>A (p.Phe391Leu)
c.1182C>A (p.Phe394Leu)
c.528C>A (p.Phe176Leu)
c.972C>A (p.Phe324Leu)
 ClinVar dbSNP
9g.135765033C=CA1883866279KCNT1c.1038C= (p.Phe346=)
c.879C= (p.Phe293=)
c.786C= (p.Phe262=)
c.795C= (p.Phe265=)
c.939C= (p.Phe313=)
c.*648C= (n.*648C=)
c.921C= (p.Phe307=)
c.981C= (p.Phe327=)
n.857C=
c.903C= (p.Phe301=)
c.1173C= (p.Phe391=)
c.1182C= (p.Phe394=)
c.528C= (p.Phe176=)
c.972C= (p.Phe324=)
9g.135765033C>GCA375499796KCNT1c.1038C>G (p.Phe346Leu)
c.879C>G (p.Phe293Leu)
c.786C>G (p.Phe262Leu)
c.795C>G (p.Phe265Leu)
c.939C>G (p.Phe313Leu)
c.*648C>G (n.*648C>G)
c.921C>G (p.Phe307Leu)
c.981C>G (p.Phe327Leu)
n.857C>G
c.903C>G (p.Phe301Leu)
c.1173C>G (p.Phe391Leu)
c.1182C>G (p.Phe394Leu)
c.528C>G (p.Phe176Leu)
c.972C>G (p.Phe324Leu)
 ClinVar dbSNP
9g.135765033C>TCA5326759KCNT1c.1038C>T (p.Phe346=)
c.879C>T (p.Phe293=)
c.786C>T (p.Phe262=)
c.795C>T (p.Phe265=)
c.939C>T (p.Phe313=)
c.*648C>T (n.*648C>T)
c.921C>T (p.Phe307=)
c.981C>T (p.Phe327=)
n.857C>T
c.903C>T (p.Phe301=)
c.1173C>T (p.Phe391=)
c.1182C>T (p.Phe394=)
c.528C>T (p.Phe176=)
c.972C>T (p.Phe324=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135765034G>ACA201465084KCNT1c.1039G>A (p.Glu347Lys)
c.880G>A (p.Glu294Lys)
c.787G>A (p.Glu263Lys)
c.796G>A (p.Glu266Lys)
c.940G>A (p.Glu314Lys)
c.*649G>A (n.*649G>A)
c.922G>A (p.Glu308Lys)
c.982G>A (p.Glu328Lys)
n.858G>A
c.904G>A (p.Glu302Lys)
c.1174G>A (p.Glu392Lys)
c.1183G>A (p.Glu395Lys)
c.529G>A (p.Glu177Lys)
c.973G>A (p.Glu325Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135765034G>CCA375499798KCNT1c.1039G>C (p.Glu347Gln)
c.880G>C (p.Glu294Gln)
c.787G>C (p.Glu263Gln)
c.796G>C (p.Glu266Gln)
c.940G>C (p.Glu314Gln)
c.*649G>C (n.*649G>C)
c.922G>C (p.Glu308Gln)
c.982G>C (p.Glu328Gln)
n.858G>C
c.904G>C (p.Glu302Gln)
c.1174G>C (p.Glu392Gln)
c.1183G>C (p.Glu395Gln)
c.529G>C (p.Glu177Gln)
c.973G>C (p.Glu325Gln)
9g.135765034G=CA1883866280KCNT1c.1039G= (p.Glu347=)
c.880G= (p.Glu294=)
c.787G= (p.Glu263=)
c.796G= (p.Glu266=)
c.940G= (p.Glu314=)
c.*649G= (n.*649G=)
c.922G= (p.Glu308=)
c.982G= (p.Glu328=)
n.858G=
c.904G= (p.Glu302=)
c.1174G= (p.Glu392=)
c.1183G= (p.Glu395=)
c.529G= (p.Glu177=)
c.973G= (p.Glu325=)
9g.135765034G>TCA375499797KCNT1c.1039G>T (p.Glu347Ter)
c.880G>T (p.Glu294Ter)
c.787G>T (p.Glu263Ter)
c.796G>T (p.Glu266Ter)
c.940G>T (p.Glu314Ter)
c.*649G>T (n.*649G>T)
c.922G>T (p.Glu308Ter)
c.982G>T (p.Glu328Ter)
n.858G>T
c.904G>T (p.Glu302Ter)
c.1174G>T (p.Glu392Ter)
c.1183G>T (p.Glu395Ter)
c.529G>T (p.Glu177Ter)
c.973G>T (p.Glu325Ter)
9g.135765035A>CCA375499801KCNT1c.1040A>C (p.Glu347Ala)
c.881A>C (p.Glu294Ala)
c.788A>C (p.Glu263Ala)
c.797A>C (p.Glu266Ala)
c.941A>C (p.Glu314Ala)
c.*650A>C (n.*650A>C)
c.923A>C (p.Glu308Ala)
c.983A>C (p.Glu328Ala)
n.859A>C
c.905A>C (p.Glu302Ala)
c.1175A>C (p.Glu392Ala)
c.1184A>C (p.Glu395Ala)
c.530A>C (p.Glu177Ala)
c.974A>C (p.Glu325Ala)
9g.135765035A>GCA375499799KCNT1c.1040A>G (p.Glu347Gly)
c.881A>G (p.Glu294Gly)
c.788A>G (p.Glu263Gly)
c.797A>G (p.Glu266Gly)
c.941A>G (p.Glu314Gly)
c.*650A>G (n.*650A>G)
c.923A>G (p.Glu308Gly)
c.983A>G (p.Glu328Gly)
n.859A>G
c.905A>G (p.Glu302Gly)
c.1175A>G (p.Glu392Gly)
c.1184A>G (p.Glu395Gly)
c.530A>G (p.Glu177Gly)
c.974A>G (p.Glu325Gly)
9g.135765035A>TCA375499800KCNT1c.1040A>T (p.Glu347Val)
c.881A>T (p.Glu294Val)
c.788A>T (p.Glu263Val)
c.797A>T (p.Glu266Val)
c.941A>T (p.Glu314Val)
c.*650A>T (n.*650A>T)
c.923A>T (p.Glu308Val)
c.983A>T (p.Glu328Val)
n.859A>T
c.905A>T (p.Glu302Val)
c.1175A>T (p.Glu392Val)
c.1184A>T (p.Glu395Val)
c.530A>T (p.Glu177Val)
c.974A>T (p.Glu325Val)
9g.135765036G>ACA467697913KCNT1c.1041G>A (p.Glu347=)
c.882G>A (p.Glu294=)
c.789G>A (p.Glu263=)
c.798G>A (p.Glu266=)
c.942G>A (p.Glu314=)
c.*651G>A (n.*651G>A)
c.924G>A (p.Glu308=)
c.984G>A (p.Glu328=)
n.860G>A
c.906G>A (p.Glu302=)
c.1176G>A (p.Glu392=)
c.1185G>A (p.Glu395=)
c.531G>A (p.Glu177=)
c.975G>A (p.Glu325=)
9g.135765036G>CCA375499802KCNT1c.1041G>C (p.Glu347Asp)
c.882G>C (p.Glu294Asp)
c.789G>C (p.Glu263Asp)
c.798G>C (p.Glu266Asp)
c.942G>C (p.Glu314Asp)
c.*651G>C (n.*651G>C)
c.924G>C (p.Glu308Asp)
c.984G>C (p.Glu328Asp)
n.860G>C
c.906G>C (p.Glu302Asp)
c.1176G>C (p.Glu392Asp)
c.1185G>C (p.Glu395Asp)
c.531G>C (p.Glu177Asp)
c.975G>C (p.Glu325Asp)
9g.135765036G>TCA375499803KCNT1c.1041G>T (p.Glu347Asp)
c.882G>T (p.Glu294Asp)
c.789G>T (p.Glu263Asp)
c.798G>T (p.Glu266Asp)
c.942G>T (p.Glu314Asp)
c.*651G>T (n.*651G>T)
c.924G>T (p.Glu308Asp)
c.984G>T (p.Glu328Asp)
n.860G>T
c.906G>T (p.Glu302Asp)
c.1176G>T (p.Glu392Asp)
c.1185G>T (p.Glu395Asp)
c.531G>T (p.Glu177Asp)
c.975G>T (p.Glu325Asp)
9g.135765037G>ACA375499805KCNT1c.1042G>A (p.Glu348Lys)
c.883G>A (p.Glu295Lys)
c.790G>A (p.Glu264Lys)
c.799G>A (p.Glu267Lys)
c.943G>A (p.Glu315Lys)
c.*652G>A (n.*652G>A)
c.925G>A (p.Glu309Lys)
c.985G>A (p.Glu329Lys)
n.861G>A
c.907G>A (p.Glu303Lys)
c.1177G>A (p.Glu393Lys)
c.1186G>A (p.Glu396Lys)
c.532G>A (p.Glu178Lys)
c.976G>A (p.Glu326Lys)
9g.135765037G>CCA375499806KCNT1c.1042G>C (p.Glu348Gln)
c.883G>C (p.Glu295Gln)
c.790G>C (p.Glu264Gln)
c.799G>C (p.Glu267Gln)
c.943G>C (p.Glu315Gln)
c.*652G>C (n.*652G>C)
c.925G>C (p.Glu309Gln)
c.985G>C (p.Glu329Gln)
n.861G>C
c.907G>C (p.Glu303Gln)
c.1177G>C (p.Glu393Gln)
c.1186G>C (p.Glu396Gln)
c.532G>C (p.Glu178Gln)
c.976G>C (p.Glu326Gln)
9g.135765037G>TCA375499807KCNT1c.1042G>T (p.Glu348Ter)
c.883G>T (p.Glu295Ter)
c.790G>T (p.Glu264Ter)
c.799G>T (p.Glu267Ter)
c.943G>T (p.Glu315Ter)
c.*652G>T (n.*652G>T)
c.925G>T (p.Glu309Ter)
c.985G>T (p.Glu329Ter)
n.861G>T
c.907G>T (p.Glu303Ter)
c.1177G>T (p.Glu393Ter)
c.1186G>T (p.Glu396Ter)
c.532G>T (p.Glu178Ter)
c.976G>T (p.Glu326Ter)
9g.135765038A>CCA375499809KCNT1c.1043A>C (p.Glu348Ala)
c.884A>C (p.Glu295Ala)
c.791A>C (p.Glu264Ala)
c.800A>C (p.Glu267Ala)
c.944A>C (p.Glu315Ala)
c.*653A>C (n.*653A>C)
c.926A>C (p.Glu309Ala)
c.986A>C (p.Glu329Ala)
n.862A>C
c.908A>C (p.Glu303Ala)
c.1178A>C (p.Glu393Ala)
c.1187A>C (p.Glu396Ala)
c.533A>C (p.Glu178Ala)
c.977A>C (p.Glu326Ala)
9g.135765038A>GCA375499811KCNT1c.1043A>G (p.Glu348Gly)
c.884A>G (p.Glu295Gly)
c.791A>G (p.Glu264Gly)
c.800A>G (p.Glu267Gly)
c.944A>G (p.Glu315Gly)
c.*653A>G (n.*653A>G)
c.926A>G (p.Glu309Gly)
c.986A>G (p.Glu329Gly)
n.862A>G
c.908A>G (p.Glu303Gly)
c.1178A>G (p.Glu393Gly)
c.1187A>G (p.Glu396Gly)
c.533A>G (p.Glu178Gly)
c.977A>G (p.Glu326Gly)
9g.135765038A>TCA375499813KCNT1c.1043A>T (p.Glu348Val)
c.884A>T (p.Glu295Val)
c.791A>T (p.Glu264Val)
c.800A>T (p.Glu267Val)
c.944A>T (p.Glu315Val)
c.*653A>T (n.*653A>T)
c.926A>T (p.Glu309Val)
c.986A>T (p.Glu329Val)
n.862A>T
c.908A>T (p.Glu303Val)
c.1178A>T (p.Glu393Val)
c.1187A>T (p.Glu396Val)
c.533A>T (p.Glu178Val)
c.977A>T (p.Glu326Val)
9g.135765039G>ACA467697931KCNT1c.1044G>A (p.Glu348=)
c.885G>A (p.Glu295=)
c.792G>A (p.Glu264=)
c.801G>A (p.Glu267=)
c.945G>A (p.Glu315=)
c.*654G>A (n.*654G>A)
c.927G>A (p.Glu309=)
c.987G>A (p.Glu329=)
n.863G>A
c.909G>A (p.Glu303=)
c.1179G>A (p.Glu393=)
c.1188G>A (p.Glu396=)
c.534G>A (p.Glu178=)
c.978G>A (p.Glu326=)
 dbSNP gnomAD v4
9g.135765039G>CCA375499815KCNT1c.1044G>C (p.Glu348Asp)
c.885G>C (p.Glu295Asp)
c.792G>C (p.Glu264Asp)
c.801G>C (p.Glu267Asp)
c.945G>C (p.Glu315Asp)
c.*654G>C (n.*654G>C)
c.927G>C (p.Glu309Asp)
c.987G>C (p.Glu329Asp)
n.863G>C
c.909G>C (p.Glu303Asp)
c.1179G>C (p.Glu393Asp)
c.1188G>C (p.Glu396Asp)
c.534G>C (p.Glu178Asp)
c.978G>C (p.Glu326Asp)
9g.135765039G=CA1883866281KCNT1c.1044G= (p.Glu348=)
c.885G= (p.Glu295=)
c.792G= (p.Glu264=)
c.801G= (p.Glu267=)
c.945G= (p.Glu315=)
c.*654G= (n.*654G=)
c.927G= (p.Glu309=)
c.987G= (p.Glu329=)
n.863G=
c.909G= (p.Glu303=)
c.1179G= (p.Glu393=)
c.1188G= (p.Glu396=)
c.534G= (p.Glu178=)
c.978G= (p.Glu326=)
9g.135765039G>TCA375499816KCNT1c.1044G>T (p.Glu348Asp)
c.885G>T (p.Glu295Asp)
c.792G>T (p.Glu264Asp)
c.801G>T (p.Glu267Asp)
c.945G>T (p.Glu315Asp)
c.*654G>T (n.*654G>T)
c.927G>T (p.Glu309Asp)
c.987G>T (p.Glu329Asp)
n.863G>T
c.909G>T (p.Glu303Asp)
c.1179G>T (p.Glu393Asp)
c.1188G>T (p.Glu396Asp)
c.534G>T (p.Glu178Asp)
c.978G>T (p.Glu326Asp)
9g.135765040C>ACA375499821KCNT1c.1045C>A (p.Leu349Ile)
c.886C>A (p.Leu296Ile)
c.793C>A (p.Leu265Ile)
c.802C>A (p.Leu268Ile)
c.946C>A (p.Leu316Ile)
c.*655C>A (n.*655C>A)
c.928C>A (p.Leu310Ile)
c.988C>A (p.Leu330Ile)
n.864C>A
c.910C>A (p.Leu304Ile)
c.1180C>A (p.Leu394Ile)
c.1189C>A (p.Leu397Ile)
c.535C>A (p.Leu179Ile)
c.979C>A (p.Leu327Ile)
 gnomAD v4
9g.135765040C>GCA375499820KCNT1c.1045C>G (p.Leu349Val)
c.886C>G (p.Leu296Val)
c.793C>G (p.Leu265Val)
c.802C>G (p.Leu268Val)
c.946C>G (p.Leu316Val)
c.*655C>G (n.*655C>G)
c.928C>G (p.Leu310Val)
c.988C>G (p.Leu330Val)
n.864C>G
c.910C>G (p.Leu304Val)
c.1180C>G (p.Leu394Val)
c.1189C>G (p.Leu397Val)
c.535C>G (p.Leu179Val)
c.979C>G (p.Leu327Val)
9g.135765040C>TCA375499819KCNT1c.1045C>T (p.Leu349Phe)
c.886C>T (p.Leu296Phe)
c.793C>T (p.Leu265Phe)
c.802C>T (p.Leu268Phe)
c.946C>T (p.Leu316Phe)
c.*655C>T (n.*655C>T)
c.928C>T (p.Leu310Phe)
c.988C>T (p.Leu330Phe)
n.864C>T
c.910C>T (p.Leu304Phe)
c.1180C>T (p.Leu394Phe)
c.1189C>T (p.Leu397Phe)
c.535C>T (p.Leu179Phe)
c.979C>T (p.Leu327Phe)
9g.135765041T>ACA375499824KCNT1c.1046T>A (p.Leu349His)
c.887T>A (p.Leu296His)
c.794T>A (p.Leu265His)
c.803T>A (p.Leu268His)
c.947T>A (p.Leu316His)
c.*656T>A (n.*656T>A)
c.929T>A (p.Leu310His)
c.989T>A (p.Leu330His)
n.865T>A
c.911T>A (p.Leu304His)
c.1181T>A (p.Leu394His)
c.1190T>A (p.Leu397His)
c.536T>A (p.Leu179His)
c.980T>A (p.Leu327His)
9g.135765041T>CCA375499826KCNT1c.1046T>C (p.Leu349Pro)
c.887T>C (p.Leu296Pro)
c.794T>C (p.Leu265Pro)
c.803T>C (p.Leu268Pro)
c.947T>C (p.Leu316Pro)
c.*656T>C (n.*656T>C)
c.929T>C (p.Leu310Pro)
c.989T>C (p.Leu330Pro)
n.865T>C
c.911T>C (p.Leu304Pro)
c.1181T>C (p.Leu394Pro)
c.1190T>C (p.Leu397Pro)
c.536T>C (p.Leu179Pro)
c.980T>C (p.Leu327Pro)
 gnomAD v4
9g.135765041T>GCA375499827KCNT1c.1046T>G (p.Leu349Arg)
c.887T>G (p.Leu296Arg)
c.794T>G (p.Leu265Arg)
c.803T>G (p.Leu268Arg)
c.947T>G (p.Leu316Arg)
c.*656T>G (n.*656T>G)
c.929T>G (p.Leu310Arg)
c.989T>G (p.Leu330Arg)
n.865T>G
c.911T>G (p.Leu304Arg)
c.1181T>G (p.Leu394Arg)
c.1190T>G (p.Leu397Arg)
c.536T>G (p.Leu179Arg)
c.980T>G (p.Leu327Arg)
9g.135765042C>ACA467697950KCNT1c.1047C>A (p.Leu349=)
c.888C>A (p.Leu296=)
c.795C>A (p.Leu265=)
c.804C>A (p.Leu268=)
c.948C>A (p.Leu316=)
c.*657C>A (n.*657C>A)
c.930C>A (p.Leu310=)
c.990C>A (p.Leu330=)
n.866C>A
c.912C>A (p.Leu304=)
c.1182C>A (p.Leu394=)
c.1191C>A (p.Leu397=)
c.537C>A (p.Leu179=)
c.981C>A (p.Leu327=)
9g.135765042C=CA1883866282KCNT1c.1047C= (p.Leu349=)
c.888C= (p.Leu296=)
c.795C= (p.Leu265=)
c.804C= (p.Leu268=)
c.948C= (p.Leu316=)
c.*657C= (n.*657C=)
c.930C= (p.Leu310=)
c.990C= (p.Leu330=)
n.866C=
c.912C= (p.Leu304=)
c.1182C= (p.Leu394=)
c.1191C= (p.Leu397=)
c.537C= (p.Leu179=)
c.981C= (p.Leu327=)
9g.135765042C>GCA467697952KCNT1c.1047C>G (p.Leu349=)
c.888C>G (p.Leu296=)
c.795C>G (p.Leu265=)
c.804C>G (p.Leu268=)
c.948C>G (p.Leu316=)
c.*657C>G (n.*657C>G)
c.930C>G (p.Leu310=)
c.990C>G (p.Leu330=)
n.866C>G
c.912C>G (p.Leu304=)
c.1182C>G (p.Leu394=)
c.1191C>G (p.Leu397=)
c.537C>G (p.Leu179=)
c.981C>G (p.Leu327=)
9g.135765042C>TCA5326760KCNT1c.1047C>T (p.Leu349=)
c.888C>T (p.Leu296=)
c.795C>T (p.Leu265=)
c.804C>T (p.Leu268=)
c.948C>T (p.Leu316=)
c.*657C>T (n.*657C>T)
c.930C>T (p.Leu310=)
c.990C>T (p.Leu330=)
n.866C>T
c.912C>T (p.Leu304=)
c.1182C>T (p.Leu394=)
c.1191C>T (p.Leu397=)
c.537C>T (p.Leu179=)
c.981C>T (p.Leu327=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135765043G>ACA5326761KCNT1c.1048G>A (p.Val350Ile)
c.889G>A (p.Val297Ile)
c.796G>A (p.Val266Ile)
c.805G>A (p.Val269Ile)
c.949G>A (p.Val317Ile)
c.*658G>A (n.*658G>A)
c.931G>A (p.Val311Ile)
c.991G>A (p.Val331Ile)
n.867G>A
c.913G>A (p.Val305Ile)
c.1183G>A (p.Val395Ile)
c.1192G>A (p.Val398Ile)
c.538G>A (p.Val180Ile)
c.982G>A (p.Val328Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135765043G>CCA375499831KCNT1c.1048G>C (p.Val350Leu)
c.889G>C (p.Val297Leu)
c.796G>C (p.Val266Leu)
c.805G>C (p.Val269Leu)
c.949G>C (p.Val317Leu)
c.*658G>C (n.*658G>C)
c.931G>C (p.Val311Leu)
c.991G>C (p.Val331Leu)
n.867G>C
c.913G>C (p.Val305Leu)
c.1183G>C (p.Val395Leu)
c.1192G>C (p.Val398Leu)
c.538G>C (p.Val180Leu)
c.982G>C (p.Val328Leu)
9g.135765043G=CA1883866283KCNT1c.1048G= (p.Val350=)
c.889G= (p.Val297=)
c.796G= (p.Val266=)
c.805G= (p.Val269=)
c.949G= (p.Val317=)
c.*658G= (n.*658G=)
c.931G= (p.Val311=)
c.991G= (p.Val331=)
n.867G=
c.913G= (p.Val305=)
c.1183G= (p.Val395=)
c.1192G= (p.Val398=)
c.538G= (p.Val180=)
c.982G= (p.Val328=)
9g.135765043G>TCA375499833KCNT1c.1048G>T (p.Val350Phe)
c.889G>T (p.Val297Phe)
c.796G>T (p.Val266Phe)
c.805G>T (p.Val269Phe)
c.949G>T (p.Val317Phe)
c.*658G>T (n.*658G>T)
c.931G>T (p.Val311Phe)
c.991G>T (p.Val331Phe)
n.867G>T
c.913G>T (p.Val305Phe)
c.1183G>T (p.Val395Phe)
c.1192G>T (p.Val398Phe)
c.538G>T (p.Val180Phe)
c.982G>T (p.Val328Phe)
9g.135765044T>ACA375499835KCNT1c.1049T>A (p.Val350Asp)
c.890T>A (p.Val297Asp)
c.797T>A (p.Val266Asp)
c.806T>A (p.Val269Asp)
c.950T>A (p.Val317Asp)
c.*659T>A (n.*659T>A)
c.932T>A (p.Val311Asp)
c.992T>A (p.Val331Asp)
n.868T>A
c.914T>A (p.Val305Asp)
c.1184T>A (p.Val395Asp)
c.1193T>A (p.Val398Asp)
c.539T>A (p.Val180Asp)
c.983T>A (p.Val328Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.135765044T>CCA375499837KCNT1c.1049T>C (p.Val350Ala)
c.890T>C (p.Val297Ala)
c.797T>C (p.Val266Ala)
c.806T>C (p.Val269Ala)
c.950T>C (p.Val317Ala)
c.*659T>C (n.*659T>C)
c.932T>C (p.Val311Ala)
c.992T>C (p.Val331Ala)
n.868T>C
c.914T>C (p.Val305Ala)
c.1184T>C (p.Val395Ala)
c.1193T>C (p.Val398Ala)
c.539T>C (p.Val180Ala)
c.983T>C (p.Val328Ala)
 ClinVar dbSNP gnomAD v4
9g.135765044T>GCA375499840KCNT1c.1049T>G (p.Val350Gly)
c.890T>G (p.Val297Gly)
c.797T>G (p.Val266Gly)
c.806T>G (p.Val269Gly)
c.950T>G (p.Val317Gly)
c.*659T>G (n.*659T>G)
c.932T>G (p.Val311Gly)
c.992T>G (p.Val331Gly)
n.868T>G
c.914T>G (p.Val305Gly)
c.1184T>G (p.Val395Gly)
c.1193T>G (p.Val398Gly)
c.539T>G (p.Val180Gly)
c.983T>G (p.Val328Gly)
9g.135765044T=CA1883866284KCNT1c.1049T= (p.Val350=)
c.890T= (p.Val297=)
c.797T= (p.Val266=)
c.806T= (p.Val269=)
c.950T= (p.Val317=)
c.*659T= (n.*659T=)
c.932T= (p.Val311=)
c.992T= (p.Val331=)
n.868T=
c.914T= (p.Val305=)
c.1184T= (p.Val395=)
c.1193T= (p.Val398=)
c.539T= (p.Val180=)
c.983T= (p.Val328=)
9g.135765045C>ACA467697969KCNT1c.1050C>A (p.Val350=)
c.891C>A (p.Val297=)
c.798C>A (p.Val266=)
c.807C>A (p.Val269=)
c.951C>A (p.Val317=)
c.*660C>A (n.*660C>A)
c.933C>A (p.Val311=)
c.993C>A (p.Val331=)
n.869C>A
c.915C>A (p.Val305=)
c.1185C>A (p.Val395=)
c.1194C>A (p.Val398=)
c.540C>A (p.Val180=)
c.984C>A (p.Val328=)
9g.135765045C>GCA467697967KCNT1c.1050C>G (p.Val350=)
c.891C>G (p.Val297=)
c.798C>G (p.Val266=)
c.807C>G (p.Val269=)
c.951C>G (p.Val317=)
c.*660C>G (n.*660C>G)
c.933C>G (p.Val311=)
c.993C>G (p.Val331=)
n.869C>G
c.915C>G (p.Val305=)
c.1185C>G (p.Val395=)
c.1194C>G (p.Val398=)
c.540C>G (p.Val180=)
c.984C>G (p.Val328=)
9g.135765045C>TCA467697968KCNT1c.1050C>T (p.Val350=)
c.891C>T (p.Val297=)
c.798C>T (p.Val266=)
c.807C>T (p.Val269=)
c.951C>T (p.Val317=)
c.*660C>T (n.*660C>T)
c.933C>T (p.Val311=)
c.993C>T (p.Val331=)
n.869C>T
c.915C>T (p.Val305=)
c.1185C>T (p.Val395=)
c.1194C>T (p.Val398=)
c.540C>T (p.Val180=)
c.984C>T (p.Val328=)
 COSMIC COSMIC
9g.135765046T>ACA375499842KCNT1c.1051T>A (p.Tyr351Asn)
c.892T>A (p.Tyr298Asn)
c.799T>A (p.Tyr267Asn)
c.808T>A (p.Tyr270Asn)
c.952T>A (p.Tyr318Asn)
c.*661T>A (n.*661T>A)
c.934T>A (p.Tyr312Asn)
c.994T>A (p.Tyr332Asn)
n.870T>A
c.916T>A (p.Tyr306Asn)
c.1186T>A (p.Tyr396Asn)
c.1195T>A (p.Tyr399Asn)
c.541T>A (p.Tyr181Asn)
c.985T>A (p.Tyr329Asn)
9g.135765046T>CCA375499844KCNT1c.1051T>C (p.Tyr351His)
c.892T>C (p.Tyr298His)
c.799T>C (p.Tyr267His)
c.808T>C (p.Tyr270His)
c.952T>C (p.Tyr318His)
c.*661T>C (n.*661T>C)
c.934T>C (p.Tyr312His)
c.994T>C (p.Tyr332His)
n.870T>C
c.916T>C (p.Tyr306His)
c.1186T>C (p.Tyr396His)
c.1195T>C (p.Tyr399His)
c.541T>C (p.Tyr181His)
c.985T>C (p.Tyr329His)
9g.135765046T>GCA375499846KCNT1c.1051T>G (p.Tyr351Asp)
c.892T>G (p.Tyr298Asp)
c.799T>G (p.Tyr267Asp)
c.808T>G (p.Tyr270Asp)
c.952T>G (p.Tyr318Asp)
c.*661T>G (n.*661T>G)
c.934T>G (p.Tyr312Asp)
c.994T>G (p.Tyr332Asp)
n.870T>G
c.916T>G (p.Tyr306Asp)
c.1186T>G (p.Tyr396Asp)
c.1195T>G (p.Tyr399Asp)
c.541T>G (p.Tyr181Asp)
c.985T>G (p.Tyr329Asp)
9g.135765047A>CCA375499851KCNT1c.1052A>C (p.Tyr351Ser)
c.893A>C (p.Tyr298Ser)
c.800A>C (p.Tyr267Ser)
c.809A>C (p.Tyr270Ser)
c.953A>C (p.Tyr318Ser)
c.*662A>C (n.*662A>C)
c.935A>C (p.Tyr312Ser)
c.995A>C (p.Tyr332Ser)
n.871A>C
c.917A>C (p.Tyr306Ser)
c.1187A>C (p.Tyr396Ser)
c.1196A>C (p.Tyr399Ser)
c.542A>C (p.Tyr181Ser)
c.986A>C (p.Tyr329Ser)
9g.135765047A>GCA375499849KCNT1c.1052A>G (p.Tyr351Cys)
c.893A>G (p.Tyr298Cys)
c.800A>G (p.Tyr267Cys)
c.809A>G (p.Tyr270Cys)
c.953A>G (p.Tyr318Cys)
c.*662A>G (n.*662A>G)
c.935A>G (p.Tyr312Cys)
c.995A>G (p.Tyr332Cys)
n.871A>G
c.917A>G (p.Tyr306Cys)
c.1187A>G (p.Tyr396Cys)
c.1196A>G (p.Tyr399Cys)
c.542A>G (p.Tyr181Cys)
c.986A>G (p.Tyr329Cys)

Number of alleles fetched