Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.83278988C>ACA357230493COQ2c.530G>T (p.Cys177Phe)
c.380G>T (p.Cys127Phe)
c.71G>T (p.Cys24Phe)
n.292G>T
c.176G>T (p.Cys59Phe)
n.689G>T
n.705G>T
n.411G>T
4g.83278988C>GCA357230494COQ2c.530G>C (p.Cys177Ser)
c.380G>C (p.Cys127Ser)
c.71G>C (p.Cys24Ser)
n.292G>C
c.176G>C (p.Cys59Ser)
n.689G>C
n.705G>C
n.411G>C
4g.83278988C>TCA357230495COQ2c.530G>A (p.Cys177Tyr)
c.380G>A (p.Cys127Tyr)
c.71G>A (p.Cys24Tyr)
n.292G>A
c.176G>A (p.Cys59Tyr)
n.689G>A
n.705G>A
n.411G>A
4g.83278989A>CCA357230496COQ2c.529T>G (p.Cys177Gly)
c.379T>G (p.Cys127Gly)
c.70T>G (p.Cys24Gly)
n.291T>G
c.175T>G (p.Cys59Gly)
n.688T>G
n.704T>G
n.410T>G
4g.83278989A>GCA357230497COQ2c.529T>C (p.Cys177Arg)
c.379T>C (p.Cys127Arg)
c.70T>C (p.Cys24Arg)
n.291T>C
c.175T>C (p.Cys59Arg)
n.688T>C
n.704T>C
n.410T>C
4g.83278989A>TCA357230498COQ2c.529T>A (p.Cys177Ser)
c.379T>A (p.Cys127Ser)
c.70T>A (p.Cys24Ser)
n.291T>A
c.175T>A (p.Cys59Ser)
n.688T>A
n.704T>A
n.410T>A
 gnomAD v4
4g.83278990G>ACA440108528COQ2c.528C>T (p.Gly176=)
c.378C>T (p.Gly126=)
c.69C>T (p.Gly23=)
n.290C>T
c.174C>T (p.Gly58=)
n.687C>T
n.703C>T
n.409C>T
4g.83278990G>CCA440108530COQ2c.528C>G (p.Gly176=)
c.378C>G (p.Gly126=)
c.69C>G (p.Gly23=)
n.290C>G
c.174C>G (p.Gly58=)
n.687C>G
n.703C>G
n.409C>G
 gnomAD v4
4g.83278990G>TCA440108532COQ2c.528C>A (p.Gly176=)
c.378C>A (p.Gly126=)
c.69C>A (p.Gly23=)
n.290C>A
c.174C>A (p.Gly58=)
n.687C>A
n.703C>A
n.409C>A
4g.83278991C>ACA357230499COQ2c.527G>T (p.Gly176Val)
c.377G>T (p.Gly126Val)
c.68G>T (p.Gly23Val)
n.289G>T
c.173G>T (p.Gly58Val)
n.686G>T
n.702G>T
n.408G>T
4g.83278991C>GCA357230500COQ2c.527G>C (p.Gly176Ala)
c.377G>C (p.Gly126Ala)
c.68G>C (p.Gly23Ala)
n.289G>C
c.173G>C (p.Gly58Ala)
n.686G>C
n.702G>C
n.408G>C
4g.83278991C>TCA357230501COQ2c.527G>A (p.Gly176Asp)
c.377G>A (p.Gly126Asp)
c.68G>A (p.Gly23Asp)
n.289G>A
c.173G>A (p.Gly58Asp)
n.686G>A
n.702G>A
n.408G>A
 ClinVar
4g.83278992C>ACA357230502COQ2c.526G>T (p.Gly176Cys)
c.376G>T (p.Gly126Cys)
c.67G>T (p.Gly23Cys)
n.288G>T
c.172G>T (p.Gly58Cys)
n.685G>T
n.701G>T
n.407G>T
4g.83278992C>GCA357230503COQ2c.526G>C (p.Gly176Arg)
c.376G>C (p.Gly126Arg)
c.67G>C (p.Gly23Arg)
n.288G>C
c.172G>C (p.Gly58Arg)
n.685G>C
n.701G>C
n.407G>C
4g.83278992C>TCA357230504COQ2c.526G>A (p.Gly176Ser)
c.376G>A (p.Gly126Ser)
c.67G>A (p.Gly23Ser)
n.288G>A
c.172G>A (p.Gly58Ser)
n.685G>A
n.701G>A
n.407G>A
 gnomAD v4
4g.83278993T>ACA440108545COQ2c.525A>T (p.Ala175=)
c.375A>T (p.Ala125=)
c.66A>T (p.Ala22=)
n.287A>T
c.171A>T (p.Ala57=)
n.684A>T
n.700A>T
n.406A>T
4g.83278993T>CCA440108547COQ2c.525A>G (p.Ala175=)
c.375A>G (p.Ala125=)
c.66A>G (p.Ala22=)
n.287A>G
c.171A>G (p.Ala57=)
n.684A>G
n.700A>G
n.406A>G
 gnomAD v4
4g.83278993T>GCA440108549COQ2c.525A>C (p.Ala175=)
c.375A>C (p.Ala125=)
c.66A>C (p.Ala22=)
n.287A>C
c.171A>C (p.Ala57=)
n.684A>C
n.700A>C
n.406A>C
4g.83278994G>ACA357230507COQ2c.524C>T (p.Ala175Val)
c.374C>T (p.Ala125Val)
c.65C>T (p.Ala22Val)
n.286C>T
c.170C>T (p.Ala57Val)
n.683C>T
n.699C>T
n.405C>T
 gnomAD v4
4g.83278994G>CCA357230506COQ2c.524C>G (p.Ala175Gly)
c.374C>G (p.Ala125Gly)
c.65C>G (p.Ala22Gly)
n.286C>G
c.170C>G (p.Ala57Gly)
n.683C>G
n.699C>G
n.405C>G
4g.83278994G>TCA357230505COQ2c.524C>A (p.Ala175Glu)
c.374C>A (p.Ala125Glu)
c.65C>A (p.Ala22Glu)
n.286C>A
c.170C>A (p.Ala57Glu)
n.683C>A
n.699C>A
n.405C>A
4g.83278995C>ACA357230510COQ2c.523G>T (p.Ala175Ser)
c.373G>T (p.Ala125Ser)
c.64G>T (p.Ala22Ser)
n.285G>T
c.169G>T (p.Ala57Ser)
n.682G>T
n.698G>T
n.404G>T
4g.83278995C>GCA357230508COQ2c.523G>C (p.Ala175Pro)
c.373G>C (p.Ala125Pro)
c.64G>C (p.Ala22Pro)
n.285G>C
c.169G>C (p.Ala57Pro)
n.682G>C
n.698G>C
n.404G>C
4g.83278995C>TCA357230509COQ2c.523G>A (p.Ala175Thr)
c.373G>A (p.Ala125Thr)
c.64G>A (p.Ala22Thr)
n.285G>A
c.169G>A (p.Ala57Thr)
n.682G>A
n.698G>A
n.404G>A
4g.83278996T>ACA440108560COQ2c.522A>T (p.Gly174=)
c.372A>T (p.Gly124=)
c.63A>T (p.Gly21=)
n.284A>T
c.168A>T (p.Gly56=)
n.681A>T
n.697A>T
n.403A>T
4g.83278996T>CCA440108561COQ2c.522A>G (p.Gly174=)
c.372A>G (p.Gly124=)
c.63A>G (p.Gly21=)
n.284A>G
c.168A>G (p.Gly56=)
n.681A>G
n.697A>G
n.403A>G
4g.83278996T>GCA440108562COQ2c.522A>C (p.Gly174=)
c.372A>C (p.Gly124=)
c.63A>C (p.Gly21=)
n.284A>C
c.168A>C (p.Gly56=)
n.681A>C
n.697A>C
n.403A>C
4g.83278997C>ACA357230511COQ2c.521G>T (p.Gly174Val)
c.371G>T (p.Gly124Val)
c.62G>T (p.Gly21Val)
n.283G>T
c.167G>T (p.Gly56Val)
n.680G>T
n.696G>T
n.402G>T
4g.83278997C=CA1472713042COQ2c.521G= (p.Gly174=)
c.371G= (p.Gly124=)
c.62G= (p.Gly21=)
n.283G=
c.167G= (p.Gly56=)
n.680G=
n.696G=
n.402G=
4g.83278997C>GCA357230512COQ2c.521G>C (p.Gly174Ala)
c.371G>C (p.Gly124Ala)
c.62G>C (p.Gly21Ala)
n.283G>C
c.167G>C (p.Gly56Ala)
n.680G>C
n.696G>C
n.402G>C
 dbSNP gnomAD v2
4g.83278997C>TCA357230513COQ2c.521G>A (p.Gly174Glu)
c.371G>A (p.Gly124Glu)
c.62G>A (p.Gly21Glu)
n.283G>A
c.167G>A (p.Gly56Glu)
n.680G>A
n.696G>A
n.402G>A
 dbSNP gnomAD v4
4g.83278998C>ACA357230516COQ2c.520G>T (p.Gly174Ter)
c.370G>T (p.Gly124Ter)
c.61G>T (p.Gly21Ter)
n.282G>T
c.166G>T (p.Gly56Ter)
n.679G>T
n.695G>T
n.401G>T
 gnomAD v4
4g.83278998C>GCA357230515COQ2c.520G>C (p.Gly174Arg)
c.370G>C (p.Gly124Arg)
c.61G>C (p.Gly21Arg)
n.282G>C
c.166G>C (p.Gly56Arg)
n.679G>C
n.695G>C
n.401G>C
4g.83278998C>TCA357230514COQ2c.520G>A (p.Gly174Arg)
c.370G>A (p.Gly124Arg)
c.61G>A (p.Gly21Arg)
n.282G>A
c.166G>A (p.Gly56Arg)
n.679G>A
n.695G>A
n.401G>A
4g.83278999A=CA1472713043COQ2c.519T= (p.Arg173=)
c.369T= (p.Arg123=)
c.60T= (p.Arg20=)
n.281T=
c.165T= (p.Arg55=)
n.678T=
n.694T=
n.400T=
4g.83278999A>CCA440108576COQ2c.519T>G (p.Arg173=)
c.369T>G (p.Arg123=)
c.60T>G (p.Arg20=)
n.281T>G
c.165T>G (p.Arg55=)
n.678T>G
n.694T>G
n.400T>G
4g.83278999A>GCA440108578COQ2c.519T>C (p.Arg173=)
c.369T>C (p.Arg123=)
c.60T>C (p.Arg20=)
n.281T>C
c.165T>C (p.Arg55=)
n.678T>C
n.694T>C
n.400T>C
 dbSNP
4g.83278999A>TCA440108580COQ2c.519T>A (p.Arg173=)
c.369T>A (p.Arg123=)
c.60T>A (p.Arg20=)
n.281T>A
c.165T>A (p.Arg55=)
n.678T>A
n.694T>A
n.400T>A
4g.83279000C>ACA357230517COQ2c.518G>T (p.Arg173Leu)
c.368G>T (p.Arg123Leu)
c.59G>T (p.Arg20Leu)
n.280G>T
c.164G>T (p.Arg55Leu)
n.677G>T
n.693G>T
n.399G>T
 dbSNP gnomAD v4
4g.83279000C=CA1472713044COQ2c.518G= (p.Arg173=)
c.368G= (p.Arg123=)
c.59G= (p.Arg20=)
n.280G=
c.164G= (p.Arg55=)
n.677G=
n.693G=
n.399G=
4g.83279000C>GCA357230518COQ2c.518G>C (p.Arg173Pro)
c.368G>C (p.Arg123Pro)
c.59G>C (p.Arg20Pro)
n.280G>C
c.164G>C (p.Arg55Pro)
n.677G>C
n.693G>C
n.399G>C
4g.83279000C>TCA2988623COQ2c.518G>A (p.Arg173His)
c.368G>A (p.Arg123His)
c.59G>A (p.Arg20His)
n.280G>A
c.164G>A (p.Arg55His)
n.677G>A
n.693G>A
n.399G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.83279001G>ACA2988624COQ2c.517C>T (p.Arg173Cys)
c.367C>T (p.Arg123Cys)
c.58C>T (p.Arg20Cys)
n.279C>T
c.163C>T (p.Arg55Cys)
n.676C>T
n.692C>T
n.398C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.83279001G>CCA357230519COQ2c.517C>G (p.Arg173Gly)
c.367C>G (p.Arg123Gly)
c.58C>G (p.Arg20Gly)
n.279C>G
c.163C>G (p.Arg55Gly)
n.676C>G
n.692C>G
n.398C>G
 dbSNP gnomAD v2 gnomAD v4
4g.83279001G=CA1472713045COQ2c.517C= (p.Arg173=)
c.367C= (p.Arg123=)
c.58C= (p.Arg20=)
n.279C=
c.163C= (p.Arg55=)
n.676C=
n.692C=
n.398C=
4g.83279001G>TCA357230520COQ2c.517C>A (p.Arg173Ser)
c.367C>A (p.Arg123Ser)
c.58C>A (p.Arg20Ser)
n.279C>A
c.163C>A (p.Arg55Ser)
n.676C>A
n.692C>A
n.398C>A
 gnomAD v4 COSMIC
4g.83279002C>ACA357230521COQ2c.516G>T (p.Met172Ile)
c.366G>T (p.Met122Ile)
c.57G>T (p.Met19Ile)
n.278G>T
c.162G>T (p.Met54Ile)
n.675G>T
n.691G>T
n.397G>T
 COSMIC
4g.83279002C>GCA357230523COQ2c.516G>C (p.Met172Ile)
c.366G>C (p.Met122Ile)
c.57G>C (p.Met19Ile)
n.278G>C
c.162G>C (p.Met54Ile)
n.675G>C
n.691G>C
n.397G>C
4g.83279002C>TCA357230522COQ2c.516G>A (p.Met172Ile)
c.366G>A (p.Met122Ile)
c.57G>A (p.Met19Ile)
n.278G>A
c.162G>A (p.Met54Ile)
n.675G>A
n.691G>A
n.397G>A
4g.83279003A>CCA357230524COQ2c.515T>G (p.Met172Arg)
c.365T>G (p.Met122Arg)
c.56T>G (p.Met19Arg)
n.277T>G
c.161T>G (p.Met54Arg)
n.674T>G
n.690T>G
n.396T>G

Number of alleles fetched