Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
4g.83279003A>GCA357230525COQ2c.515T>C (p.Met172Thr)
c.365T>C (p.Met122Thr)
c.56T>C (p.Met19Thr)
n.277T>C
c.161T>C (p.Met54Thr)
n.674T>C
n.690T>C
n.396T>C
4g.83279003A>TCA357230526COQ2c.515T>A (p.Met172Lys)
c.365T>A (p.Met122Lys)
c.56T>A (p.Met19Lys)
n.277T>A
c.161T>A (p.Met54Lys)
n.674T>A
n.690T>A
n.396T>A
4g.83279004T>ACA357230527COQ2c.514A>T (p.Met172Leu)
c.364A>T (p.Met122Leu)
c.55A>T (p.Met19Leu)
n.276A>T
c.160A>T (p.Met54Leu)
n.673A>T
n.689A>T
n.395A>T
4g.83279004T>CCA357230528COQ2c.514A>G (p.Met172Val)
c.364A>G (p.Met122Val)
c.55A>G (p.Met19Val)
n.276A>G
c.160A>G (p.Met54Val)
n.673A>G
n.689A>G
n.395A>G
 gnomAD v4
4g.83279004T>GCA357230529COQ2c.514A>C (p.Met172Leu)
c.364A>C (p.Met122Leu)
c.55A>C (p.Met19Leu)
n.276A>C
c.160A>C (p.Met54Leu)
n.673A>C
n.689A>C
n.395A>C
4g.83279005C>ACA440108603COQ2c.513G>T (p.Leu171=)
c.363G>T (p.Leu121=)
c.54G>T (p.Leu18=)
n.275G>T
c.159G>T (p.Leu53=)
n.672G>T
n.688G>T
n.394G>T
4g.83279005C>GCA440108605COQ2c.513G>C (p.Leu171=)
c.363G>C (p.Leu121=)
c.54G>C (p.Leu18=)
n.275G>C
c.159G>C (p.Leu53=)
n.672G>C
n.688G>C
n.394G>C
 gnomAD v4
4g.83279005C>TCA440108607COQ2c.513G>A (p.Leu171=)
c.363G>A (p.Leu121=)
c.54G>A (p.Leu18=)
n.275G>A
c.159G>A (p.Leu53=)
n.672G>A
n.688G>A
n.394G>A
4g.83279006A>CCA357230530COQ2c.512T>G (p.Leu171Arg)
c.362T>G (p.Leu121Arg)
c.53T>G (p.Leu18Arg)
n.274T>G
c.158T>G (p.Leu53Arg)
n.671T>G
n.687T>G
n.393T>G
4g.83279006A>GCA357230531COQ2c.512T>C (p.Leu171Pro)
c.362T>C (p.Leu121Pro)
c.53T>C (p.Leu18Pro)
n.274T>C
c.158T>C (p.Leu53Pro)
n.671T>C
n.687T>C
n.393T>C
4g.83279006A>TCA357230532COQ2c.512T>A (p.Leu171Gln)
c.362T>A (p.Leu121Gln)
c.53T>A (p.Leu18Gln)
n.274T>A
c.158T>A (p.Leu53Gln)
n.671T>A
n.687T>A
n.393T>A
4g.83279007G>ACA440108610COQ2c.511C>T (p.Leu171=)
c.361C>T (p.Leu121=)
c.52C>T (p.Leu18=)
n.273C>T
c.157C>T (p.Leu53=)
n.670C>T
n.686C>T
n.392C>T
 gnomAD v4
4g.83279007G>CCA357230533COQ2c.511C>G (p.Leu171Val)
c.361C>G (p.Leu121Val)
c.52C>G (p.Leu18Val)
n.273C>G
c.157C>G (p.Leu53Val)
n.670C>G
n.686C>G
n.392C>G
 COSMIC
4g.83279007G>TCA357230534COQ2c.511C>A (p.Leu171Met)
c.361C>A (p.Leu121Met)
c.52C>A (p.Leu18Met)
n.273C>A
c.157C>A (p.Leu53Met)
n.670C>A
n.686C>A
n.392C>A
 gnomAD v4
4g.83279008A>CCA357230535COQ2c.510T>G (p.Ile170Met)
c.360T>G (p.Ile120Met)
c.51T>G (p.Ile17Met)
n.272T>G
c.156T>G (p.Ile52Met)
n.669T>G
n.685T>G
n.391T>G

Number of alleles fetched