Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.83278956C>ACA357230412COQ2c.562G>T (p.Asp188Tyr)
c.412G>T (p.Asp138Tyr)
c.103G>T (p.Asp35Tyr)
n.324G>T
c.208G>T (p.Asp70Tyr)
n.721G>T
n.737G>T
n.443G>T
 gnomAD v4
4g.83278956C>GCA357230413COQ2c.562G>C (p.Asp188His)
c.412G>C (p.Asp138His)
c.103G>C (p.Asp35His)
n.324G>C
c.208G>C (p.Asp70His)
n.721G>C
n.737G>C
n.443G>C
 gnomAD v4
4g.83278956C>TCA357230414COQ2c.562G>A (p.Asp188Asn)
c.412G>A (p.Asp138Asn)
c.103G>A (p.Asp35Asn)
n.324G>A
c.208G>A (p.Asp70Asn)
n.721G>A
n.737G>A
n.443G>A
 gnomAD v4
4g.83278957A>CCA357230415COQ2c.561T>G (p.Tyr187Ter)
c.411T>G (p.Tyr137Ter)
c.102T>G (p.Tyr34Ter)
n.323T>G
c.207T>G (p.Tyr69Ter)
n.720T>G
n.736T>G
n.442T>G
4g.83278957A>GCA440108366COQ2c.561T>C (p.Tyr187=)
c.411T>C (p.Tyr137=)
c.102T>C (p.Tyr34=)
n.323T>C
c.207T>C (p.Tyr69=)
n.720T>C
n.736T>C
n.442T>C
 dbSNP
4g.83278957A>TCA357230416COQ2c.561T>A (p.Tyr187Ter)
c.411T>A (p.Tyr137Ter)
c.102T>A (p.Tyr34Ter)
n.323T>A
c.207T>A (p.Tyr69Ter)
n.720T>A
n.736T>A
n.442T>A
 gnomAD v4
4g.83278958T>ACA357230417COQ2c.560A>T (p.Tyr187Phe)
c.410A>T (p.Tyr137Phe)
c.101A>T (p.Tyr34Phe)
n.322A>T
c.206A>T (p.Tyr69Phe)
n.719A>T
n.735A>T
n.441A>T
4g.83278958T>CCA2988620COQ2c.560A>G (p.Tyr187Cys)
c.410A>G (p.Tyr137Cys)
c.101A>G (p.Tyr34Cys)
n.322A>G
c.206A>G (p.Tyr69Cys)
n.719A>G
n.735A>G
n.441A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.83278958T>GCA357230418COQ2c.560A>C (p.Tyr187Ser)
c.410A>C (p.Tyr137Ser)
c.101A>C (p.Tyr34Ser)
n.322A>C
c.206A>C (p.Tyr69Ser)
n.719A>C
n.735A>C
n.441A>C
4g.83278958T=CA1472713030COQ2c.560A= (p.Tyr187=)
c.410A= (p.Tyr137=)
c.101A= (p.Tyr34=)
n.322A=
c.206A= (p.Tyr69=)
n.719A=
n.735A=
n.441A=
4g.83278959A=CA1472713031COQ2c.559T= (p.Tyr187=)
c.409T= (p.Tyr137=)
c.100T= (p.Tyr34=)
n.321T=
c.205T= (p.Tyr69=)
n.718T=
n.734T=
n.440T=
4g.83278959A>CCA357230419COQ2c.559T>G (p.Tyr187Asp)
c.409T>G (p.Tyr137Asp)
c.100T>G (p.Tyr34Asp)
n.321T>G
c.205T>G (p.Tyr69Asp)
n.718T>G
n.734T>G
n.440T>G
4g.83278959A>GCA357230420COQ2c.559T>C (p.Tyr187His)
c.409T>C (p.Tyr137His)
c.100T>C (p.Tyr34His)
n.321T>C
c.205T>C (p.Tyr69His)
n.718T>C
n.734T>C
n.440T>C
 dbSNP gnomAD v2 gnomAD v4
4g.83278959A>TCA357230421COQ2c.559T>A (p.Tyr187Asn)
c.409T>A (p.Tyr137Asn)
c.100T>A (p.Tyr34Asn)
n.321T>A
c.205T>A (p.Tyr69Asn)
n.718T>A
n.734T>A
n.440T>A
4g.83278960G>ACA440108377COQ2c.558C>T (p.Asp186=)
c.408C>T (p.Asp136=)
c.99C>T (p.Asp33=)
n.320C>T
c.204C>T (p.Asp68=)
n.717C>T
n.733C>T
n.439C>T
4g.83278960G>CCA357230422COQ2c.558C>G (p.Asp186Glu)
c.408C>G (p.Asp136Glu)
c.99C>G (p.Asp33Glu)
n.320C>G
c.204C>G (p.Asp68Glu)
n.717C>G
n.733C>G
n.439C>G
4g.83278960G>TCA357230423COQ2c.558C>A (p.Asp186Glu)
c.408C>A (p.Asp136Glu)
c.99C>A (p.Asp33Glu)
n.320C>A
c.204C>A (p.Asp68Glu)
n.717C>A
n.733C>A
n.439C>A
4g.83278961T>ACA357230424COQ2c.557A>T (p.Asp186Val)
c.407A>T (p.Asp136Val)
c.98A>T (p.Asp33Val)
n.319A>T
c.203A>T (p.Asp68Val)
n.716A>T
n.732A>T
n.438A>T
 gnomAD v4
4g.83278961T>CCA357230425COQ2c.557A>G (p.Asp186Gly)
c.407A>G (p.Asp136Gly)
c.98A>G (p.Asp33Gly)
n.319A>G
c.203A>G (p.Asp68Gly)
n.716A>G
n.732A>G
n.438A>G
 gnomAD v4
4g.83278961T>GCA357230426COQ2c.557A>C (p.Asp186Ala)
c.407A>C (p.Asp136Ala)
c.98A>C (p.Asp33Ala)
n.319A>C
c.203A>C (p.Asp68Ala)
n.716A>C
n.732A>C
n.438A>C
4g.83278962C>ACA357230427COQ2c.556G>T (p.Asp186Tyr)
c.406G>T (p.Asp136Tyr)
c.97G>T (p.Asp33Tyr)
n.318G>T
c.202G>T (p.Asp68Tyr)
n.715G>T
n.731G>T
n.437G>T
4g.83278962C>GCA357230428COQ2c.556G>C (p.Asp186His)
c.406G>C (p.Asp136His)
c.97G>C (p.Asp33His)
n.318G>C
c.202G>C (p.Asp68His)
n.715G>C
n.731G>C
n.437G>C
4g.83278962C>TCA357230429COQ2c.556G>A (p.Asp186Asn)
c.406G>A (p.Asp136Asn)
c.97G>A (p.Asp33Asn)
n.318G>A
c.202G>A (p.Asp68Asn)
n.715G>A
n.731G>A
n.437G>A
4g.83278963C>ACA357230431COQ2c.555G>T (p.Gln185His)
c.405G>T (p.Gln135His)
c.96G>T (p.Gln32His)
n.317G>T
c.201G>T (p.Gln67His)
n.714G>T
n.730G>T
n.436G>T
 gnomAD v4
4g.83278963C=CA1472713032COQ2c.555G= (p.Gln185=)
c.405G= (p.Gln135=)
c.96G= (p.Gln32=)
n.317G=
c.201G= (p.Gln67=)
n.714G=
n.730G=
n.436G=
4g.83278963C>GCA357230430COQ2c.555G>C (p.Gln185His)
c.405G>C (p.Gln135His)
c.96G>C (p.Gln32His)
n.317G>C
c.201G>C (p.Gln67His)
n.714G>C
n.730G>C
n.436G>C
4g.83278963C>TCA440108392COQ2c.555G>A (p.Gln185=)
c.405G>A (p.Gln135=)
c.96G>A (p.Gln32=)
n.317G>A
c.201G>A (p.Gln67=)
n.714G>A
n.730G>A
n.436G>A
 dbSNP gnomAD v2
4g.83278964T>ACA357230432COQ2c.554A>T (p.Gln185Leu)
c.404A>T (p.Gln135Leu)
c.95A>T (p.Gln32Leu)
n.316A>T
c.200A>T (p.Gln67Leu)
n.713A>T
n.729A>T
n.435A>T
4g.83278964T>CCA357230433COQ2c.554A>G (p.Gln185Arg)
c.404A>G (p.Gln135Arg)
c.95A>G (p.Gln32Arg)
n.316A>G
c.200A>G (p.Gln67Arg)
n.713A>G
n.729A>G
n.435A>G
4g.83278964T>GCA357230434COQ2c.554A>C (p.Gln185Pro)
c.404A>C (p.Gln135Pro)
c.95A>C (p.Gln32Pro)
n.316A>C
c.200A>C (p.Gln67Pro)
n.713A>C
n.729A>C
n.435A>C
4g.83278965G>ACA357230435COQ2c.553C>T (p.Gln185Ter)
c.403C>T (p.Gln135Ter)
c.94C>T (p.Gln32Ter)
n.315C>T
c.199C>T (p.Gln67Ter)
n.712C>T
n.728C>T
n.434C>T
4g.83278965G>CCA357230436COQ2c.553C>G (p.Gln185Glu)
c.403C>G (p.Gln135Glu)
c.94C>G (p.Gln32Glu)
n.315C>G
c.199C>G (p.Gln67Glu)
n.712C>G
n.728C>G
n.434C>G
4g.83278965G>TCA357230437COQ2c.553C>A (p.Gln185Lys)
c.403C>A (p.Gln135Lys)
c.94C>A (p.Gln32Lys)
n.315C>A
c.199C>A (p.Gln67Lys)
n.712C>A
n.728C>A
n.434C>A
 gnomAD v4
4g.83278966G>ACA440108403COQ2c.552C>T (p.Asp184=)
c.402C>T (p.Asp134=)
c.93C>T (p.Asp31=)
n.314C>T
c.198C>T (p.Asp66=)
n.711C>T
n.727C>T
n.433C>T
 dbSNP gnomAD v2 gnomAD v4
4g.83278966G>CCA357230439COQ2c.552C>G (p.Asp184Glu)
c.402C>G (p.Asp134Glu)
c.93C>G (p.Asp31Glu)
n.314C>G
c.198C>G (p.Asp66Glu)
n.711C>G
n.727C>G
n.433C>G
4g.83278966G=CA1472713033COQ2c.552C= (p.Asp184=)
c.402C= (p.Asp134=)
c.93C= (p.Asp31=)
n.314C=
c.198C= (p.Asp66=)
n.711C=
n.727C=
n.433C=
4g.83278966G>TCA357230438COQ2c.552C>A (p.Asp184Glu)
c.402C>A (p.Asp134Glu)
c.93C>A (p.Asp31Glu)
n.314C>A
c.198C>A (p.Asp66Glu)
n.711C>A
n.727C>A
n.433C>A
4g.83278967T>ACA357230440COQ2c.551A>T (p.Asp184Val)
c.401A>T (p.Asp134Val)
c.92A>T (p.Asp31Val)
n.313A>T
c.197A>T (p.Asp66Val)
n.710A>T
n.726A>T
n.432A>T
4g.83278967T>CCA357230441COQ2c.551A>G (p.Asp184Gly)
c.401A>G (p.Asp134Gly)
c.92A>G (p.Asp31Gly)
n.313A>G
c.197A>G (p.Asp66Gly)
n.710A>G
n.726A>G
n.432A>G
4g.83278967T>GCA357230442COQ2c.551A>C (p.Asp184Ala)
c.401A>C (p.Asp134Ala)
c.92A>C (p.Asp31Ala)
n.313A>C
c.197A>C (p.Asp66Ala)
n.710A>C
n.726A>C
n.432A>C
4g.83278968C>ACA357230443COQ2c.550G>T (p.Asp184Tyr)
c.400G>T (p.Asp134Tyr)
c.91G>T (p.Asp31Tyr)
n.312G>T
c.196G>T (p.Asp66Tyr)
n.709G>T
n.725G>T
n.431G>T
 gnomAD v4
4g.83278968C>GCA357230444COQ2c.550G>C (p.Asp184His)
c.400G>C (p.Asp134His)
c.91G>C (p.Asp31His)
n.312G>C
c.196G>C (p.Asp66His)
n.709G>C
n.725G>C
n.431G>C
4g.83278968C>TCA357230445COQ2c.550G>A (p.Asp184Asn)
c.400G>A (p.Asp134Asn)
c.91G>A (p.Asp31Asn)
n.312G>A
c.196G>A (p.Asp66Asn)
n.709G>A
n.725G>A
n.431G>A
4g.83278969C>ACA357230446COQ2c.549G>T (p.Trp183Cys)
c.399G>T (p.Trp133Cys)
c.90G>T (p.Trp30Cys)
n.311G>T
c.195G>T (p.Trp65Cys)
n.708G>T
n.724G>T
n.430G>T
 gnomAD v4
4g.83278969C=CA1472713034COQ2c.549G= (p.Trp183=)
c.399G= (p.Trp133=)
c.90G= (p.Trp30=)
n.311G=
c.195G= (p.Trp65=)
n.708G=
n.724G=
n.430G=
4g.83278969C>GCA2988621COQ2c.549G>C (p.Trp183Cys)
c.399G>C (p.Trp133Cys)
c.90G>C (p.Trp30Cys)
n.311G>C
c.195G>C (p.Trp65Cys)
n.708G>C
n.724G>C
n.430G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.83278969C>TCA357230447COQ2c.549G>A (p.Trp183Ter)
c.399G>A (p.Trp133Ter)
c.90G>A (p.Trp30Ter)
n.311G>A
c.195G>A (p.Trp65Ter)
n.708G>A
n.724G>A
n.430G>A
4g.83278970C>ACA357230448COQ2c.548G>T (p.Trp183Leu)
c.398G>T (p.Trp133Leu)
c.89G>T (p.Trp30Leu)
n.310G>T
c.194G>T (p.Trp65Leu)
n.707G>T
n.723G>T
n.429G>T
 gnomAD v4
4g.83278970C>GCA357230449COQ2c.548G>C (p.Trp183Ser)
c.398G>C (p.Trp133Ser)
c.89G>C (p.Trp30Ser)
n.310G>C
c.194G>C (p.Trp65Ser)
n.707G>C
n.723G>C
n.429G>C
4g.83278970C>TCA357230450COQ2c.548G>A (p.Trp183Ter)
c.398G>A (p.Trp133Ter)
c.89G>A (p.Trp30Ter)
n.310G>A
c.194G>A (p.Trp65Ter)
n.707G>A
n.723G>A
n.429G>A
4g.83278971A>CCA357230451COQ2c.547T>G (p.Trp183Gly)
c.397T>G (p.Trp133Gly)
c.88T>G (p.Trp30Gly)
n.309T>G
c.193T>G (p.Trp65Gly)
n.706T>G
n.722T>G
n.428T>G
4g.83278971A>GCA357230452COQ2c.547T>C (p.Trp183Arg)
c.397T>C (p.Trp133Arg)
c.88T>C (p.Trp30Arg)
n.309T>C
c.193T>C (p.Trp65Arg)
n.706T>C
n.722T>C
n.428T>C
4g.83278971A>TCA357230453COQ2c.547T>A (p.Trp183Arg)
c.397T>A (p.Trp133Arg)
c.88T>A (p.Trp30Arg)
n.309T>A
c.193T>A (p.Trp65Arg)
n.706T>A
n.722T>A
n.428T>A
4g.83278972C>ACA357230454COQ2c.546G>T (p.Met182Ile)
c.396G>T (p.Met132Ile)
c.87G>T (p.Met29Ile)
n.308G>T
c.192G>T (p.Met64Ile)
n.705G>T
n.721G>T
n.427G>T
4g.83278972C=CA1472713035COQ2c.546G= (p.Met182=)
c.396G= (p.Met132=)
c.87G= (p.Met29=)
n.308G=
c.192G= (p.Met64=)
n.705G=
n.721G=
n.427G=
4g.83278972C>GCA357230455COQ2c.546G>C (p.Met182Ile)
c.396G>C (p.Met132Ile)
c.87G>C (p.Met29Ile)
n.308G>C
c.192G>C (p.Met64Ile)
n.705G>C
n.721G>C
n.427G>C
4g.83278972C>TCA357230456COQ2c.546G>A (p.Met182Ile)
c.396G>A (p.Met132Ile)
c.87G>A (p.Met29Ile)
n.308G>A
c.192G>A (p.Met64Ile)
n.705G>A
n.721G>A
n.427G>A
 dbSNP
4g.83278973A=CA1472713037COQ2c.545T= (p.Met182=)
c.395T= (p.Met132=)
c.86T= (p.Met29=)
n.307T=
c.191T= (p.Met64=)
n.704T=
n.720T=
n.426T=
4g.83278973A>CCA16044186COQ2c.545T>G (p.Met182Arg)
c.395T>G (p.Met132Arg)
c.86T>G (p.Met29Arg)
n.307T>G
c.191T>G (p.Met64Arg)
n.704T>G
n.720T>G
n.426T>G
 ClinVar dbSNP
4g.83278973A>GCA357230457COQ2c.545T>C (p.Met182Thr)
c.395T>C (p.Met132Thr)
c.86T>C (p.Met29Thr)
n.307T>C
c.191T>C (p.Met64Thr)
n.704T>C
n.720T>C
n.426T>C
 gnomAD v4
4g.83278973A>TCA357230458COQ2c.545T>A (p.Met182Lys)
c.395T>A (p.Met132Lys)
c.86T>A (p.Met29Lys)
n.307T>A
c.191T>A (p.Met64Lys)
n.704T>A
n.720T>A
n.426T>A
4g.83278973_83278974delinsATCA1472713036COQ2c.544_545delinsAT (p.Met182=)
c.394_395delinsAT (p.Met132=)
c.85_86delinsAT (p.Met29=)
n.306_307delinsAT
c.190_191delinsAT (p.Met64=)
n.703_704delinsAT
n.719_720delinsAT
n.425_426delinsAT
4g.83278974delCA2988622COQ2c.544del (p.Met182CysfsTer18)
c.394del (p.Met132CysfsTer18)
c.85del (p.Met29CysfsTer18)
n.306del
c.190del (p.Met64CysfsTer18)
n.703del
n.719del
n.425del
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.83278974T>ACA357230461COQ2c.544A>T (p.Met182Leu)
c.394A>T (p.Met132Leu)
c.85A>T (p.Met29Leu)
n.306A>T
c.190A>T (p.Met64Leu)
n.703A>T
n.719A>T
n.425A>T
 gnomAD v4
4g.83278974T>CCA357230459COQ2c.544A>G (p.Met182Val)
c.394A>G (p.Met132Val)
c.85A>G (p.Met29Val)
n.306A>G
c.190A>G (p.Met64Val)
n.703A>G
n.719A>G
n.425A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.83278974T>GCA357230460COQ2c.544A>C (p.Met182Leu)
c.394A>C (p.Met132Leu)
c.85A>C (p.Met29Leu)
n.306A>C
c.190A>C (p.Met64Leu)
n.703A>C
n.719A>C
n.425A>C
4g.83278974T=CA1472713038COQ2c.544A= (p.Met182=)
c.394A= (p.Met132=)
c.85A= (p.Met29=)
n.306A=
c.190A= (p.Met64=)
n.703A=
n.719A=
n.425A=
4g.83278975G>ACA440108452COQ2c.543C>T (p.Asp181=)
c.393C>T (p.Asp131=)
c.84C>T (p.Asp28=)
n.305C>T
c.189C>T (p.Asp63=)
n.702C>T
n.718C>T
n.424C>T
4g.83278975G>CCA357230462COQ2c.543C>G (p.Asp181Glu)
c.393C>G (p.Asp131Glu)
c.84C>G (p.Asp28Glu)
n.305C>G
c.189C>G (p.Asp63Glu)
n.702C>G
n.718C>G
n.424C>G
4g.83278975G>TCA357230463COQ2c.543C>A (p.Asp181Glu)
c.393C>A (p.Asp131Glu)
c.84C>A (p.Asp28Glu)
n.305C>A
c.189C>A (p.Asp63Glu)
n.702C>A
n.718C>A
n.424C>A
4g.83278976T>ACA357230464COQ2c.542A>T (p.Asp181Val)
c.392A>T (p.Asp131Val)
c.83A>T (p.Asp28Val)
n.304A>T
c.188A>T (p.Asp63Val)
n.701A>T
n.717A>T
n.423A>T
4g.83278976T>CCA357230465COQ2c.542A>G (p.Asp181Gly)
c.392A>G (p.Asp131Gly)
c.83A>G (p.Asp28Gly)
n.304A>G
c.188A>G (p.Asp63Gly)
n.701A>G
n.717A>G
n.423A>G
 dbSNP gnomAD v2 gnomAD v4
4g.83278976T>GCA357230466COQ2c.542A>C (p.Asp181Ala)
c.392A>C (p.Asp131Ala)
c.83A>C (p.Asp28Ala)
n.304A>C
c.188A>C (p.Asp63Ala)
n.701A>C
n.717A>C
n.423A>C
 gnomAD v4
4g.83278976T=CA1472713039COQ2c.542A= (p.Asp181=)
c.392A= (p.Asp131=)
c.83A= (p.Asp28=)
n.304A=
c.188A= (p.Asp63=)
n.701A=
n.717A=
n.423A=
4g.83278977C>ACA357230467COQ2c.541G>T (p.Asp181Tyr)
c.391G>T (p.Asp131Tyr)
c.82G>T (p.Asp28Tyr)
n.303G>T
c.187G>T (p.Asp63Tyr)
n.700G>T
n.716G>T
n.422G>T
4g.83278977C>GCA357230468COQ2c.541G>C (p.Asp181His)
c.391G>C (p.Asp131His)
c.82G>C (p.Asp28His)
n.303G>C
c.187G>C (p.Asp63His)
n.700G>C
n.716G>C
n.422G>C
4g.83278977C>TCA357230469COQ2c.541G>A (p.Asp181Asn)
c.391G>A (p.Asp131Asn)
c.82G>A (p.Asp28Asn)
n.303G>A
c.187G>A (p.Asp63Asn)
n.700G>A
n.716G>A
n.422G>A
 gnomAD v4
4g.83278978A>CCA357230470COQ2c.540T>G (p.Asn180Lys)
c.390T>G (p.Asn130Lys)
c.81T>G (p.Asn27Lys)
n.302T>G
c.186T>G (p.Asn62Lys)
n.699T>G
n.715T>G
n.421T>G
4g.83278978A>GCA440108468COQ2c.540T>C (p.Asn180=)
c.390T>C (p.Asn130=)
c.81T>C (p.Asn27=)
n.302T>C
c.186T>C (p.Asn62=)
n.699T>C
n.715T>C
n.421T>C
4g.83278978A>TCA357230471COQ2c.540T>A (p.Asn180Lys)
c.390T>A (p.Asn130Lys)
c.81T>A (p.Asn27Lys)
n.302T>A
c.186T>A (p.Asn62Lys)
n.699T>A
n.715T>A
n.421T>A
 gnomAD v4
4g.83278979T>ACA357230474COQ2c.539A>T (p.Asn180Ile)
c.389A>T (p.Asn130Ile)
c.80A>T (p.Asn27Ile)
n.301A>T
c.185A>T (p.Asn62Ile)
n.698A>T
n.714A>T
n.420A>T
4g.83278979T>CCA357230473COQ2c.539A>G (p.Asn180Ser)
c.389A>G (p.Asn130Ser)
c.80A>G (p.Asn27Ser)
n.301A>G
c.185A>G (p.Asn62Ser)
n.698A>G
n.714A>G
n.420A>G
 dbSNP gnomAD v3 gnomAD v4
4g.83278979T>GCA357230472COQ2c.539A>C (p.Asn180Thr)
c.389A>C (p.Asn130Thr)
c.80A>C (p.Asn27Thr)
n.301A>C
c.185A>C (p.Asn62Thr)
n.698A>C
n.714A>C
n.420A>C
4g.83278979T=CA1472713040COQ2c.539A= (p.Asn180=)
c.389A= (p.Asn130=)
c.80A= (p.Asn27=)
n.301A=
c.185A= (p.Asn62=)
n.698A=
n.714A=
n.420A=
4g.83278980T>ACA357230475COQ2c.538A>T (p.Asn180Tyr)
c.388A>T (p.Asn130Tyr)
c.79A>T (p.Asn27Tyr)
n.300A>T
c.184A>T (p.Asn62Tyr)
n.697A>T
n.713A>T
n.419A>T
4g.83278980T>CCA357230477COQ2c.538A>G (p.Asn180Asp)
c.388A>G (p.Asn130Asp)
c.79A>G (p.Asn27Asp)
n.300A>G
c.184A>G (p.Asn62Asp)
n.697A>G
n.713A>G
n.419A>G
4g.83278980T>GCA357230476COQ2c.538A>C (p.Asn180His)
c.388A>C (p.Asn130His)
c.79A>C (p.Asn27His)
n.300A>C
c.184A>C (p.Asn62His)
n.697A>C
n.713A>C
n.419A>C
 gnomAD v4
4g.83278982_83278984dupCA2762423105COQ2c.536_538dup (p.Ile179_Asn180insIle)
c.386_388dup (p.Ile129_Asn130insIle)
c.77_79dup (p.Ile26_Asn27insIle)
n.298_300dup
c.182_184dup (p.Ile61_Asn62insIle)
n.695_697dup
n.711_713dup
n.417_419dup
4g.83278981A>CCA357230478COQ2c.537T>G (p.Ile179Met)
c.387T>G (p.Ile129Met)
c.78T>G (p.Ile26Met)
n.299T>G
c.183T>G (p.Ile61Met)
n.696T>G
n.712T>G
n.418T>G
4g.83278981A>GCA440108483COQ2c.537T>C (p.Ile179=)
c.387T>C (p.Ile129=)
c.78T>C (p.Ile26=)
n.299T>C
c.183T>C (p.Ile61=)
n.696T>C
n.712T>C
n.418T>C
4g.83278981A>TCA440108487COQ2c.537T>A (p.Ile179=)
c.387T>A (p.Ile129=)
c.78T>A (p.Ile26=)
n.299T>A
c.183T>A (p.Ile61=)
n.696T>A
n.712T>A
n.418T>A
4g.83278982A>CCA357230479COQ2c.536T>G (p.Ile179Ser)
c.386T>G (p.Ile129Ser)
c.77T>G (p.Ile26Ser)
n.298T>G
c.182T>G (p.Ile61Ser)
n.695T>G
n.711T>G
n.417T>G
4g.83278982A>GCA357230480COQ2c.536T>C (p.Ile179Thr)
c.386T>C (p.Ile129Thr)
c.77T>C (p.Ile26Thr)
n.298T>C
c.182T>C (p.Ile61Thr)
n.695T>C
n.711T>C
n.417T>C
4g.83278982A>TCA357230481COQ2c.536T>A (p.Ile179Asn)
c.386T>A (p.Ile129Asn)
c.77T>A (p.Ile26Asn)
n.298T>A
c.182T>A (p.Ile61Asn)
n.695T>A
n.711T>A
n.417T>A
4g.83278983T>ACA357230482COQ2c.535A>T (p.Ile179Phe)
c.385A>T (p.Ile129Phe)
c.76A>T (p.Ile26Phe)
n.297A>T
c.181A>T (p.Ile61Phe)
n.694A>T
n.710A>T
n.416A>T
4g.83278983T>CCA357230483COQ2c.535A>G (p.Ile179Val)
c.385A>G (p.Ile129Val)
c.76A>G (p.Ile26Val)
n.297A>G
c.181A>G (p.Ile61Val)
n.694A>G
n.710A>G
n.416A>G
4g.83278983T>GCA357230484COQ2c.535A>C (p.Ile179Leu)
c.385A>C (p.Ile129Leu)
c.76A>C (p.Ile26Leu)
n.297A>C
c.181A>C (p.Ile61Leu)
n.694A>C
n.710A>C
n.416A>C
4g.83278984A=CA1472713041COQ2c.534T= (p.Thr178=)
c.384T= (p.Thr128=)
c.75T= (p.Thr25=)
n.296T=
c.180T= (p.Thr60=)
n.693T=
n.709T=
n.415T=
4g.83278984A>CCA440108505COQ2c.534T>G (p.Thr178=)
c.384T>G (p.Thr128=)
c.75T>G (p.Thr25=)
n.296T>G
c.180T>G (p.Thr60=)
n.693T>G
n.709T>G
n.415T>G
 dbSNP gnomAD v2 gnomAD v4
4g.83278984A>GCA440108502COQ2c.534T>C (p.Thr178=)
c.384T>C (p.Thr128=)
c.75T>C (p.Thr25=)
n.296T>C
c.180T>C (p.Thr60=)
n.693T>C
n.709T>C
n.415T>C
4g.83278984A>TCA440108499COQ2c.534T>A (p.Thr178=)
c.384T>A (p.Thr128=)
c.75T>A (p.Thr25=)
n.296T>A
c.180T>A (p.Thr60=)
n.693T>A
n.709T>A
n.415T>A
4g.83278985G>ACA357230485COQ2c.533C>T (p.Thr178Ile)
c.383C>T (p.Thr128Ile)
c.74C>T (p.Thr25Ile)
n.295C>T
c.179C>T (p.Thr60Ile)
n.692C>T
n.708C>T
n.414C>T
4g.83278985G>CCA357230486COQ2c.533C>G (p.Thr178Ser)
c.383C>G (p.Thr128Ser)
c.74C>G (p.Thr25Ser)
n.295C>G
c.179C>G (p.Thr60Ser)
n.692C>G
n.708C>G
n.414C>G
 ClinVar
4g.83278985G>TCA357230487COQ2c.533C>A (p.Thr178Asn)
c.383C>A (p.Thr128Asn)
c.74C>A (p.Thr25Asn)
n.295C>A
c.179C>A (p.Thr60Asn)
n.692C>A
n.708C>A
n.414C>A
4g.83278986T>ACA357230488COQ2c.532A>T (p.Thr178Ser)
c.382A>T (p.Thr128Ser)
c.73A>T (p.Thr25Ser)
n.294A>T
c.178A>T (p.Thr60Ser)
n.691A>T
n.707A>T
n.413A>T
4g.83278986T>CCA357230489COQ2c.532A>G (p.Thr178Ala)
c.382A>G (p.Thr128Ala)
c.73A>G (p.Thr25Ala)
n.294A>G
c.178A>G (p.Thr60Ala)
n.691A>G
n.707A>G
n.413A>G
 gnomAD v4 COSMIC
4g.83278986T>GCA357230490COQ2c.532A>C (p.Thr178Pro)
c.382A>C (p.Thr128Pro)
c.73A>C (p.Thr25Pro)
n.294A>C
c.178A>C (p.Thr60Pro)
n.691A>C
n.707A>C
n.413A>C
4g.83278987A>CCA357230491COQ2c.531T>G (p.Cys177Trp)
c.381T>G (p.Cys127Trp)
c.72T>G (p.Cys24Trp)
n.293T>G
c.177T>G (p.Cys59Trp)
n.690T>G
n.706T>G
n.412T>G
4g.83278987A>GCA440108515COQ2c.531T>C (p.Cys177=)
c.381T>C (p.Cys127=)
c.72T>C (p.Cys24=)
n.293T>C
c.177T>C (p.Cys59=)
n.690T>C
n.706T>C
n.412T>C
4g.83278987A>TCA357230492COQ2c.531T>A (p.Cys177Ter)
c.381T>A (p.Cys127Ter)
c.72T>A (p.Cys24Ter)
n.293T>A
c.177T>A (p.Cys59Ter)
n.690T>A
n.706T>A
n.412T>A
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
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
 ClinVar 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
4g.83279008A>GCA440108617COQ2c.510T>C (p.Ile170=)
c.360T>C (p.Ile120=)
c.51T>C (p.Ile17=)
n.272T>C
c.156T>C (p.Ile52=)
n.669T>C
n.685T>C
n.391T>C
4g.83279008A>TCA440108615COQ2c.510T>A (p.Ile170=)
c.360T>A (p.Ile120=)
c.51T>A (p.Ile17=)
n.272T>A
c.156T>A (p.Ile52=)
n.669T>A
n.685T>A
n.391T>A
4g.83279009A>CCA357230537COQ2c.509T>G (p.Ile170Ser)
c.359T>G (p.Ile120Ser)
c.50T>G (p.Ile17Ser)
n.271T>G
c.155T>G (p.Ile52Ser)
n.668T>G
n.684T>G
n.390T>G
4g.83279009A>GCA357230538COQ2c.509T>C (p.Ile170Thr)
c.359T>C (p.Ile120Thr)
c.50T>C (p.Ile17Thr)
n.271T>C
c.155T>C (p.Ile52Thr)
n.668T>C
n.684T>C
n.390T>C
4g.83279009A>TCA357230536COQ2c.509T>A (p.Ile170Asn)
c.359T>A (p.Ile120Asn)
c.50T>A (p.Ile17Asn)
n.271T>A
c.155T>A (p.Ile52Asn)
n.668T>A
n.684T>A
n.390T>A
4g.83279010T>ACA357230539COQ2c.508A>T (p.Ile170Phe)
c.358A>T (p.Ile120Phe)
c.49A>T (p.Ile17Phe)
n.270A>T
c.154A>T (p.Ile52Phe)
n.667A>T
n.683A>T
n.389A>T
4g.83279010T>CCA357230541COQ2c.508A>G (p.Ile170Val)
c.358A>G (p.Ile120Val)
c.49A>G (p.Ile17Val)
n.270A>G
c.154A>G (p.Ile52Val)
n.667A>G
n.683A>G
n.389A>G
 dbSNP
4g.83279010T>GCA357230540COQ2c.508A>C (p.Ile170Leu)
c.358A>C (p.Ile120Leu)
c.49A>C (p.Ile17Leu)
n.270A>C
c.154A>C (p.Ile52Leu)
n.667A>C
n.683A>C
n.389A>C
4g.83279010T=CA1472713046COQ2c.508A= (p.Ile170=)
c.358A= (p.Ile120=)
c.49A= (p.Ile17=)
n.270A=
c.154A= (p.Ile52=)
n.667A=
n.683A=
n.389A=
4g.83279011A>CCA440108631COQ2c.507T>G (p.Ala169=)
c.357T>G (p.Ala119=)
c.48T>G (p.Ala16=)
n.269T>G
c.153T>G (p.Ala51=)
n.666T>G
n.682T>G
n.388T>G
4g.83279011A>GCA440108633COQ2c.507T>C (p.Ala169=)
c.357T>C (p.Ala119=)
c.48T>C (p.Ala16=)
n.269T>C
c.153T>C (p.Ala51=)
n.666T>C
n.682T>C
n.388T>C
4g.83279011A>TCA440108635COQ2c.507T>A (p.Ala169=)
c.357T>A (p.Ala119=)
c.48T>A (p.Ala16=)
n.269T>A
c.153T>A (p.Ala51=)
n.666T>A
n.682T>A
n.388T>A
4g.83279011_83279012dupCA1472713047COQ2c.506_507dup (p.Ile170LeufsTer3)
c.356_357dup (p.Ile120LeufsTer3)
c.47_48dup (p.Ile17LeufsTer3)
n.268_269dup
c.152_153dup (p.Ile52LeufsTer3)
n.665_666dup
n.681_682dup
n.387_388dup
 dbSNP
4g.83279012G>ACA357230542COQ2c.506C>T (p.Ala169Val)
c.356C>T (p.Ala119Val)
c.47C>T (p.Ala16Val)
n.268C>T
c.152C>T (p.Ala51Val)
n.665C>T
n.681C>T
n.387C>T
4g.83279012G>CCA357230543COQ2c.506C>G (p.Ala169Gly)
c.356C>G (p.Ala119Gly)
c.47C>G (p.Ala16Gly)
n.268C>G
c.152C>G (p.Ala51Gly)
n.665C>G
n.681C>G
n.387C>G
4g.83279012G>TCA357230544COQ2c.506C>A (p.Ala169Asp)
c.356C>A (p.Ala119Asp)
c.47C>A (p.Ala16Asp)
n.268C>A
c.152C>A (p.Ala51Asp)
n.665C>A
n.681C>A
n.387C>A
 gnomAD v4
4g.83279013C>ACA357230545COQ2c.505G>T (p.Ala169Ser)
c.355G>T (p.Ala119Ser)
c.46G>T (p.Ala16Ser)
n.267G>T
c.151G>T (p.Ala51Ser)
n.664G>T
n.680G>T
n.386G>T
 COSMIC
4g.83279013C>GCA357230546COQ2c.505G>C (p.Ala169Pro)
c.355G>C (p.Ala119Pro)
c.46G>C (p.Ala16Pro)
n.267G>C
c.151G>C (p.Ala51Pro)
n.664G>C
n.680G>C
n.386G>C
4g.83279013C>TCA357230547COQ2c.505G>A (p.Ala169Thr)
c.355G>A (p.Ala119Thr)
c.46G>A (p.Ala16Thr)
n.267G>A
c.151G>A (p.Ala51Thr)
n.664G>A
n.680G>A
n.386G>A
 gnomAD v4
4g.83279013_83279018delinsCTCCAGCA1472713048COQ2c.500_505delinsCTGGAG (p.Thr167=)
c.350_355delinsCTGGAG (p.Thr117=)
c.41_46delinsCTGGAG (p.Thr14=)
n.262_267delinsCTGGAG
c.146_151delinsCTGGAG (p.Thr49=)
n.659_664delinsCTGGAG
n.675_680delinsCTGGAG
n.381_386delinsCTGGAG
4g.83279014T>ACA440108643COQ2c.504A>T (p.Gly168=)
c.354A>T (p.Gly118=)
c.45A>T (p.Gly15=)
n.266A>T
c.150A>T (p.Gly50=)
n.663A>T
n.679A>T
n.385A>T
4g.83279014T>CCA440108650COQ2c.504A>G (p.Gly168=)
c.354A>G (p.Gly118=)
c.45A>G (p.Gly15=)
n.266A>G
c.150A>G (p.Gly50=)
n.663A>G
n.679A>G
n.385A>G
 gnomAD v4
4g.83279014T>GCA440108647COQ2c.504A>C (p.Gly168=)
c.354A>C (p.Gly118=)
c.45A>C (p.Gly15=)
n.266A>C
c.150A>C (p.Gly50=)
n.663A>C
n.679A>C
n.385A>C
4g.83279015_83279019delCA645517291COQ2c.500_504del (p.Thr167SerfsTer12)
c.350_354del (p.Thr117SerfsTer12)
c.41_45del (p.Thr14SerfsTer12)
n.262_266del
c.146_150del (p.Thr49SerfsTer12)
n.659_663del
n.675_679del
n.381_385del
 dbSNP COSMIC
4g.83279015C>ACA357230548COQ2c.503G>T (p.Gly168Val)
c.353G>T (p.Gly118Val)
c.44G>T (p.Gly15Val)
n.265G>T
c.149G>T (p.Gly50Val)
n.662G>T
n.678G>T
n.384G>T
4g.83279015C>GCA357230549COQ2c.503G>C (p.Gly168Ala)
c.353G>C (p.Gly118Ala)
c.44G>C (p.Gly15Ala)
n.265G>C
c.149G>C (p.Gly50Ala)
n.662G>C
n.678G>C
n.384G>C
4g.83279015C>TCA357230550COQ2c.503G>A (p.Gly168Glu)
c.353G>A (p.Gly118Glu)
c.44G>A (p.Gly15Glu)
n.265G>A
c.149G>A (p.Gly50Glu)
n.662G>A
n.678G>A
n.384G>A
 gnomAD v4
4g.83279016C>ACA357230551COQ2c.502G>T (p.Gly168Ter)
c.352G>T (p.Gly118Ter)
c.43G>T (p.Gly15Ter)
n.264G>T
c.148G>T (p.Gly50Ter)
n.661G>T
n.677G>T
n.383G>T
4g.83279016C=CA1472713049COQ2c.502G= (p.Gly168=)
c.352G= (p.Gly118=)
c.43G= (p.Gly15=)
n.264G=
c.148G= (p.Gly50=)
n.661G=
n.677G=
n.383G=
4g.83279016C>GCA357230552COQ2c.502G>C (p.Gly168Arg)
c.352G>C (p.Gly118Arg)
c.43G>C (p.Gly15Arg)
n.264G>C
c.148G>C (p.Gly50Arg)
n.661G>C
n.677G>C
n.383G>C
4g.83279016C>TCA357230553COQ2c.502G>A (p.Gly168Arg)
c.352G>A (p.Gly118Arg)
c.43G>A (p.Gly15Arg)
n.264G>A
c.148G>A (p.Gly50Arg)
n.661G>A
n.677G>A
n.383G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.83279017A>CCA440108664COQ2c.501T>G (p.Thr167=)
c.351T>G (p.Thr117=)
c.42T>G (p.Thr14=)
n.263T>G
c.147T>G (p.Thr49=)
n.660T>G
n.676T>G
n.382T>G
4g.83279017A>GCA440108667COQ2c.501T>C (p.Thr167=)
c.351T>C (p.Thr117=)
c.42T>C (p.Thr14=)
n.263T>C
c.147T>C (p.Thr49=)
n.660T>C
n.676T>C
n.382T>C
 gnomAD v4
4g.83279017A>TCA440108668COQ2c.501T>A (p.Thr167=)
c.351T>A (p.Thr117=)
c.42T>A (p.Thr14=)
n.263T>A
c.147T>A (p.Thr49=)
n.660T>A
n.676T>A
n.382T>A
4g.83279018G>ACA357230556COQ2c.500C>T (p.Thr167Ile)
c.350C>T (p.Thr117Ile)
c.41C>T (p.Thr14Ile)
n.262C>T
c.146C>T (p.Thr49Ile)
n.659C>T
n.675C>T
n.381C>T
 gnomAD v4
4g.83279018G>CCA357230554COQ2c.500C>G (p.Thr167Ser)
c.350C>G (p.Thr117Ser)
c.41C>G (p.Thr14Ser)
n.262C>G
c.146C>G (p.Thr49Ser)
n.659C>G
n.675C>G
n.381C>G
4g.83279018G>TCA357230555COQ2c.500C>A (p.Thr167Asn)
c.350C>A (p.Thr117Asn)
c.41C>A (p.Thr14Asn)
n.262C>A
c.146C>A (p.Thr49Asn)
n.659C>A
n.675C>A
n.381C>A
4g.83279019T>ACA357230557COQ2c.499A>T (p.Thr167Ser)
c.349A>T (p.Thr117Ser)
c.40A>T (p.Thr14Ser)
n.261A>T
c.145A>T (p.Thr49Ser)
n.658A>T
n.674A>T
n.380A>T
 gnomAD v4
4g.83279019T>CCA357230558COQ2c.499A>G (p.Thr167Ala)
c.349A>G (p.Thr117Ala)
c.40A>G (p.Thr14Ala)
n.261A>G
c.145A>G (p.Thr49Ala)
n.658A>G
n.674A>G
n.380A>G
4g.83279019T>GCA357230559COQ2c.499A>C (p.Thr167Pro)
c.349A>C (p.Thr117Pro)
c.40A>C (p.Thr14Pro)
n.261A>C
c.145A>C (p.Thr49Pro)
n.658A>C
n.674A>C
n.380A>C
4g.83279020G>ACA100655015COQ2c.498C>T (p.Gly166=)
c.348C>T (p.Gly116=)
c.39C>T (p.Gly13=)
n.260C>T
c.144C>T (p.Gly48=)
n.657C>T
n.673C>T
n.379C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.83279020G>CCA440108691COQ2c.498C>G (p.Gly166=)
c.348C>G (p.Gly116=)
c.39C>G (p.Gly13=)
n.260C>G
c.144C>G (p.Gly48=)
n.657C>G
n.673C>G
n.379C>G
4g.83279020G=CA1472713050COQ2c.498C= (p.Gly166=)
c.348C= (p.Gly116=)
c.39C= (p.Gly13=)
n.260C=
c.144C= (p.Gly48=)
n.657C=
n.673C=
n.379C=
4g.83279020G>TCA440108687COQ2c.498C>A (p.Gly166=)
c.348C>A (p.Gly116=)
c.39C>A (p.Gly13=)
n.260C>A
c.144C>A (p.Gly48=)
n.657C>A
n.673C>A
n.379C>A
4g.83279021C>ACA357230560COQ2c.497G>T (p.Gly166Val)
c.347G>T (p.Gly116Val)
c.38G>T (p.Gly13Val)
n.259G>T
c.143G>T (p.Gly48Val)
n.656G>T
n.672G>T
n.378G>T
 gnomAD v4
4g.83279021C=CA1472713051COQ2c.497G= (p.Gly166=)
c.347G= (p.Gly116=)
c.38G= (p.Gly13=)
n.259G=
c.143G= (p.Gly48=)
n.656G=
n.672G=
n.378G=
4g.83279021C>GCA357230561COQ2c.497G>C (p.Gly166Ala)
c.347G>C (p.Gly116Ala)
c.38G>C (p.Gly13Ala)
n.259G>C
c.143G>C (p.Gly48Ala)
n.656G>C
n.672G>C
n.378G>C
 dbSNP gnomAD v2 gnomAD v4
4g.83279021C>TCA357230562COQ2c.497G>A (p.Gly166Asp)
c.347G>A (p.Gly116Asp)
c.38G>A (p.Gly13Asp)
n.259G>A
c.143G>A (p.Gly48Asp)
n.656G>A
n.672G>A
n.378G>A
 gnomAD v4
4g.83279022C>ACA357230563COQ2c.496G>T (p.Gly166Cys)
c.346G>T (p.Gly116Cys)
c.37G>T (p.Gly13Cys)
n.258G>T
c.142G>T (p.Gly48Cys)
n.655G>T
n.671G>T
n.377G>T
4g.83279022C=CA1472713052COQ2c.496G= (p.Gly166=)
c.346G= (p.Gly116=)
c.37G= (p.Gly13=)
n.258G=
c.142G= (p.Gly48=)
n.655G=
n.671G=
n.377G=
4g.83279022C>GCA357230564COQ2c.496G>C (p.Gly166Arg)
c.346G>C (p.Gly116Arg)
c.37G>C (p.Gly13Arg)
n.258G>C
c.142G>C (p.Gly48Arg)
n.655G>C
n.671G>C
n.377G>C
4g.83279022C>TCA357230565COQ2c.496G>A (p.Gly166Ser)
c.346G>A (p.Gly116Ser)
c.37G>A (p.Gly13Ser)
n.258G>A
c.142G>A (p.Gly48Ser)
n.655G>A
n.671G>A
n.377G>A
 dbSNP gnomAD v4
4g.83279022_83279023delinsTGCA2580071836COQ2c.495_496delinsCA (p.Gly166Ser)
c.345_346delinsCA (p.Gly116Ser)
c.36_37delinsCA (p.Gly13Ser)
n.257_258delinsCA
c.141_142delinsCA (p.Gly48Ser)
n.654_655delinsCA
n.670_671delinsCA
n.376_377delinsCA
 ClinVar
4g.83279023A=CA1472713053COQ2c.495T= (p.Phe165=)
c.345T= (p.Phe115=)
c.36T= (p.Phe12=)
n.257T=
c.141T= (p.Phe47=)
n.654T=
n.670T=
n.376T=
4g.83279023A>CCA357230566COQ2c.495T>G (p.Phe165Leu)
c.345T>G (p.Phe115Leu)
c.36T>G (p.Phe12Leu)
n.257T>G
c.141T>G (p.Phe47Leu)
n.654T>G
n.670T>G
n.376T>G
4g.83279023A>GCA440108705COQ2c.495T>C (p.Phe165=)
c.345T>C (p.Phe115=)
c.36T>C (p.Phe12=)
n.257T>C
c.141T>C (p.Phe47=)
n.654T>C
n.670T>C
n.376T>C
 dbSNP gnomAD v4
4g.83279023A>TCA357230567COQ2c.495T>A (p.Phe165Leu)
c.345T>A (p.Phe115Leu)
c.36T>A (p.Phe12Leu)
n.257T>A
c.141T>A (p.Phe47Leu)
n.654T>A
n.670T>A
n.376T>A
4g.83279024A>CCA357230570COQ2c.494T>G (p.Phe165Cys)
c.344T>G (p.Phe115Cys)
c.35T>G (p.Phe12Cys)
n.256T>G
c.140T>G (p.Phe47Cys)
n.653T>G
n.669T>G
n.375T>G
4g.83279024A>GCA357230569COQ2c.494T>C (p.Phe165Ser)
c.344T>C (p.Phe115Ser)
c.35T>C (p.Phe12Ser)
n.256T>C
c.140T>C (p.Phe47Ser)
n.653T>C
n.669T>C
n.375T>C
4g.83279024A>TCA357230568COQ2c.494T>A (p.Phe165Tyr)
c.344T>A (p.Phe115Tyr)
c.35T>A (p.Phe12Tyr)
n.256T>A
c.140T>A (p.Phe47Tyr)
n.653T>A
n.669T>A
n.375T>A
4g.83279025A>CCA357230571COQ2c.493T>G (p.Phe165Val)
c.343T>G (p.Phe115Val)
c.34T>G (p.Phe12Val)
n.255T>G
c.139T>G (p.Phe47Val)
n.652T>G
n.668T>G
n.374T>G
4g.83279025A>GCA357230572COQ2c.493T>C (p.Phe165Leu)
c.343T>C (p.Phe115Leu)
c.34T>C (p.Phe12Leu)
n.255T>C
c.139T>C (p.Phe47Leu)
n.652T>C
n.668T>C
n.374T>C
4g.83279025A>TCA357230573COQ2c.493T>A (p.Phe165Ile)
c.343T>A (p.Phe115Ile)
c.34T>A (p.Phe12Ile)
n.255T>A
c.139T>A (p.Phe47Ile)
n.652T>A
n.668T>A
n.374T>A
4g.83279026G>ACA440108723COQ2c.492C>T (p.Leu164=)
c.342C>T (p.Leu114=)
c.33C>T (p.Leu11=)
n.254C>T
c.138C>T (p.Leu46=)
n.651C>T
n.667C>T
n.373C>T
 gnomAD v4
4g.83279026G>CCA440108726COQ2c.492C>G (p.Leu164=)
c.342C>G (p.Leu114=)
c.33C>G (p.Leu11=)
n.254C>G
c.138C>G (p.Leu46=)
n.651C>G
n.667C>G
n.373C>G
4g.83279026G>TCA440108727COQ2c.492C>A (p.Leu164=)
c.342C>A (p.Leu114=)
c.33C>A (p.Leu11=)
n.254C>A
c.138C>A (p.Leu46=)
n.651C>A
n.667C>A
n.373C>A
 gnomAD v4
4g.83279027delCA2671245766COQ2c.491del (p.Leu164ProfsTer8)
c.341del (p.Leu114ProfsTer8)
c.32del (p.Leu11ProfsTer8)
n.253del
c.137del (p.Leu46ProfsTer8)
n.650del
n.666del
n.372del
 gnomAD v4
4g.83279027A=CA1472713054COQ2c.491T= (p.Leu164=)
c.341T= (p.Leu114=)
c.32T= (p.Leu11=)
n.253T=
c.137T= (p.Leu46=)
n.650T=
n.666T=
n.372T=
4g.83279027A>CCA357230574COQ2c.491T>G (p.Leu164Arg)
c.341T>G (p.Leu114Arg)
c.32T>G (p.Leu11Arg)
n.253T>G
c.137T>G (p.Leu46Arg)
n.650T>G
n.666T>G
n.372T>G
4g.83279027A>GCA2988625COQ2c.491T>C (p.Leu164Pro)
c.341T>C (p.Leu114Pro)
c.32T>C (p.Leu11Pro)
n.253T>C
c.137T>C (p.Leu46Pro)
n.650T>C
n.666T>C
n.372T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.83279027A>TCA357230575COQ2c.491T>A (p.Leu164His)
c.341T>A (p.Leu114His)
c.32T>A (p.Leu11His)
n.253T>A
c.137T>A (p.Leu46His)
n.650T>A
n.666T>A
n.372T>A
4g.83279028G>ACA357230576COQ2c.490C>T (p.Leu164Phe)
c.340C>T (p.Leu114Phe)
c.31C>T (p.Leu11Phe)
n.252C>T
c.136C>T (p.Leu46Phe)
n.649C>T
n.665C>T
n.371C>T
 gnomAD v4
4g.83279028G>CCA357230577COQ2c.490C>G (p.Leu164Val)
c.340C>G (p.Leu114Val)
c.31C>G (p.Leu11Val)
n.252C>G
c.136C>G (p.Leu46Val)
n.649C>G
n.665C>G
n.371C>G
4g.83279028G>TCA357230578COQ2c.490C>A (p.Leu164Ile)
c.340C>A (p.Leu114Ile)
c.31C>A (p.Leu11Ile)
n.252C>A
c.136C>A (p.Leu46Ile)
n.649C>A
n.665C>A
n.371C>A
 gnomAD v4
4g.83279029G>ACA440108748COQ2c.489C>T (p.Ser163=)
c.339C>T (p.Ser113=)
c.30C>T (p.Ser10=)
n.251C>T
c.135C>T (p.Ser45=)
n.648C>T
n.664C>T
n.370C>T
 gnomAD v4
4g.83279029G>CCA440108738COQ2c.489C>G (p.Ser163=)
c.339C>G (p.Ser113=)
c.30C>G (p.Ser10=)
n.251C>G
c.135C>G (p.Ser45=)
n.648C>G
n.664C>G
n.370C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.83279029G=CA1472713055COQ2c.489C= (p.Ser163=)
c.339C= (p.Ser113=)
c.30C= (p.Ser10=)
n.251C=
c.135C= (p.Ser45=)
n.648C=
n.664C=
n.370C=
4g.83279029G>TCA440108746COQ2c.489C>A (p.Ser163=)
c.339C>A (p.Ser113=)
c.30C>A (p.Ser10=)
n.251C>A
c.135C>A (p.Ser45=)
n.648C>A
n.664C>A
n.370C>A
4g.83279030G>ACA357230579COQ2c.488C>T (p.Ser163Phe)
c.338C>T (p.Ser113Phe)
c.29C>T (p.Ser10Phe)
n.250C>T
c.134C>T (p.Ser45Phe)
n.647C>T
n.663C>T
n.369C>T
 dbSNP gnomAD v3 gnomAD v4
4g.83279030G>CCA357230580COQ2c.488C>G (p.Ser163Cys)
c.338C>G (p.Ser113Cys)
c.29C>G (p.Ser10Cys)
n.250C>G
c.134C>G (p.Ser45Cys)
n.647C>G
n.663C>G
n.369C>G
4g.83279030G=CA1472713056COQ2c.488C= (p.Ser163=)
c.338C= (p.Ser113=)
c.29C= (p.Ser10=)
n.250C=
c.134C= (p.Ser45=)
n.647C=
n.663C=
n.369C=
4g.83279030G>TCA357230581COQ2c.488C>A (p.Ser163Tyr)
c.338C>A (p.Ser113Tyr)
c.29C>A (p.Ser10Tyr)
n.250C>A
c.134C>A (p.Ser45Tyr)
n.647C>A
n.663C>A
n.369C>A
4g.83279031A>CCA357230584COQ2c.487T>G (p.Ser163Ala)
c.337T>G (p.Ser113Ala)
c.28T>G (p.Ser10Ala)
n.249T>G
c.133T>G (p.Ser45Ala)
n.646T>G
n.662T>G
n.368T>G
4g.83279031A>GCA357230583COQ2c.487T>C (p.Ser163Pro)
c.337T>C (p.Ser113Pro)
c.28T>C (p.Ser10Pro)
n.249T>C
c.133T>C (p.Ser45Pro)
n.646T>C
n.662T>C
n.368T>C
 gnomAD v4
4g.83279031A>TCA357230582COQ2c.487T>A (p.Ser163Thr)
c.337T>A (p.Ser113Thr)
c.28T>A (p.Ser10Thr)
n.249T>A
c.133T>A (p.Ser45Thr)
n.646T>A
n.662T>A
n.368T>A
4g.83279032G>ACA440108764COQ2c.486C>T (p.Leu162=)
c.336C>T (p.Leu112=)
c.27C>T (p.Leu9=)
n.248C>T
c.132C>T (p.Leu44=)
n.645C>T
n.661C>T
n.367C>T
4g.83279032G>CCA440108767COQ2c.486C>G (p.Leu162=)
c.336C>G (p.Leu112=)
c.27C>G (p.Leu9=)
n.248C>G
c.132C>G (p.Leu44=)
n.645C>G
n.661C>G
n.367C>G
 ClinVar dbSNP gnomAD v4
4g.83279032G>TCA440108768COQ2c.486C>A (p.Leu162=)
c.336C>A (p.Leu112=)
c.27C>A (p.Leu9=)
n.248C>A
c.132C>A (p.Leu44=)
n.645C>A
n.661C>A
n.367C>A
4g.83279033A=CA1472713057COQ2c.485T= (p.Leu162=)
c.335T= (p.Leu112=)
c.26T= (p.Leu9=)
n.247T=
c.131T= (p.Leu44=)
n.644T=
n.660T=
n.366T=
4g.83279033A>CCA100655021COQ2c.485T>G (p.Leu162Arg)
c.335T>G (p.Leu112Arg)
c.26T>G (p.Leu9Arg)
n.247T>G
c.131T>G (p.Leu44Arg)
n.644T>G
n.660T>G
n.366T>G
 dbSNP gnomAD v4
4g.83279033A>GCA357230585COQ2c.485T>C (p.Leu162Pro)
c.335T>C (p.Leu112Pro)
c.26T>C (p.Leu9Pro)
n.247T>C
c.131T>C (p.Leu44Pro)
n.644T>C
n.660T>C
n.366T>C
4g.83279033A>TCA357230586COQ2c.485T>A (p.Leu162His)
c.335T>A (p.Leu112His)
c.26T>A (p.Leu9His)
n.247T>A
c.131T>A (p.Leu44His)
n.644T>A
n.660T>A
n.366T>A
4g.83279034G>ACA357230587COQ2c.484C>T (p.Leu162Phe)
c.334C>T (p.Leu112Phe)
c.25C>T (p.Leu9Phe)
n.246C>T
c.130C>T (p.Leu44Phe)
n.643C>T
n.659C>T
n.365C>T
 dbSNP gnomAD v4 COSMIC
4g.83279034G>CCA357230588COQ2c.484C>G (p.Leu162Val)
c.334C>G (p.Leu112Val)
c.25C>G (p.Leu9Val)
n.246C>G
c.130C>G (p.Leu44Val)
n.643C>G
n.659C>G
n.365C>G
4g.83279034G=CA1472713058COQ2c.484C= (p.Leu162=)
c.334C= (p.Leu112=)
c.25C= (p.Leu9=)
n.246C=
c.130C= (p.Leu44=)
n.643C=
n.659C=
n.365C=
4g.83279034G>TCA357230589COQ2c.484C>A (p.Leu162Ile)
c.334C>A (p.Leu112Ile)
c.25C>A (p.Leu9Ile)
n.246C>A
c.130C>A (p.Leu44Ile)
n.643C>A
n.659C>A
n.365C>A
4g.83279035C>ACA2988626COQ2c.483G>T (p.Met161Ile)
c.333G>T (p.Met111Ile)
c.24G>T (p.Met8Ile)
n.245G>T
c.129G>T (p.Met43Ile)
n.642G>T
n.658G>T
n.364G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.83279035C=CA1472713059COQ2c.483G= (p.Met161=)
c.333G= (p.Met111=)
c.24G= (p.Met8=)
n.245G=
c.129G= (p.Met43=)
n.642G=
n.658G=
n.364G=
4g.83279035C>GCA357230590COQ2c.483G>C (p.Met161Ile)
c.333G>C (p.Met111Ile)
c.24G>C (p.Met8Ile)
n.245G>C
c.129G>C (p.Met43Ile)
n.642G>C
n.658G>C
n.364G>C
4g.83279035C>TCA357230591COQ2c.483G>A (p.Met161Ile)
c.333G>A (p.Met111Ile)
c.24G>A (p.Met8Ile)
n.245G>A
c.129G>A (p.Met43Ile)
n.642G>A
n.658G>A
n.364G>A
4g.83279036A=CA1472713060COQ2c.482T= (p.Met161=)
c.332T= (p.Met111=)
c.23T= (p.Met8=)
n.244T=
c.128T= (p.Met43=)
n.641T=
n.657T=
n.363T=
4g.83279036A>CCA357230592COQ2c.482T>G (p.Met161Arg)
c.332T>G (p.Met111Arg)
c.23T>G (p.Met8Arg)
n.244T>G
c.128T>G (p.Met43Arg)
n.641T>G
n.657T>G
n.363T>G
4g.83279036A>GCA2988627COQ2c.482T>C (p.Met161Thr)
c.332T>C (p.Met111Thr)
c.23T>C (p.Met8Thr)
n.244T>C
c.128T>C (p.Met43Thr)
n.641T>C
n.657T>C
n.363T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.83279036A>TCA357230593COQ2c.482T>A (p.Met161Lys)
c.332T>A (p.Met111Lys)
c.23T>A (p.Met8Lys)
n.244T>A
c.128T>A (p.Met43Lys)
n.641T>A
n.657T>A
n.363T>A
4g.83279037T>ACA357230594COQ2c.481A>T (p.Met161Leu)
c.331A>T (p.Met111Leu)
c.22A>T (p.Met8Leu)
n.243A>T
c.127A>T (p.Met43Leu)
n.640A>T
n.656A>T
n.362A>T
 gnomAD v4
4g.83279037T>CCA2988628COQ2c.481A>G (p.Met161Val)
c.331A>G (p.Met111Val)
c.22A>G (p.Met8Val)
n.243A>G
c.127A>G (p.Met43Val)
n.640A>G
n.656A>G
n.362A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.83279037T>GCA357230595COQ2c.481A>C (p.Met161Leu)
c.331A>C (p.Met111Leu)
c.22A>C (p.Met8Leu)
n.243A>C
c.127A>C (p.Met43Leu)
n.640A>C
n.656A>C
n.362A>C
4g.83279037T=CA1472713061COQ2c.481A= (p.Met161=)
c.331A= (p.Met111=)
c.22A= (p.Met8=)
n.243A=
c.127A= (p.Met43=)
n.640A=
n.656A=
n.362A=
4g.83279038G>ACA440108817COQ2c.480C>T (p.Tyr160=)
c.330C>T (p.Tyr110=)
c.21C>T (p.Tyr7=)
n.242C>T
c.126C>T (p.Tyr42=)
n.639C>T
n.655C>T
n.361C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.83279038G>CCA357230596COQ2c.480C>G (p.Tyr160Ter)
c.330C>G (p.Tyr110Ter)
c.21C>G (p.Tyr7Ter)
n.242C>G
c.126C>G (p.Tyr42Ter)
n.639C>G
n.655C>G
n.361C>G
4g.83279038G=CA1472713062COQ2c.480C= (p.Tyr160=)
c.330C= (p.Tyr110=)
c.21C= (p.Tyr7=)
n.242C=
c.126C= (p.Tyr42=)
n.639C=
n.655C=
n.361C=
4g.83279038G>TCA357230597COQ2c.480C>A (p.Tyr160Ter)
c.330C>A (p.Tyr110Ter)
c.21C>A (p.Tyr7Ter)
n.242C>A
c.126C>A (p.Tyr42Ter)
n.639C>A
n.655C>A
n.361C>A
4g.83279039T>ACA357230598COQ2c.479A>T (p.Tyr160Phe)
c.329A>T (p.Tyr110Phe)
c.20A>T (p.Tyr7Phe)
n.241A>T
c.125A>T (p.Tyr42Phe)
n.638A>T
n.654A>T
n.360A>T
4g.83279039T>CCA357230599COQ2c.479A>G (p.Tyr160Cys)
c.329A>G (p.Tyr110Cys)
c.20A>G (p.Tyr7Cys)
n.241A>G
c.125A>G (p.Tyr42Cys)
n.638A>G
n.654A>G
n.360A>G
4g.83279039T>GCA357230600COQ2c.479A>C (p.Tyr160Ser)
c.329A>C (p.Tyr110Ser)
c.20A>C (p.Tyr7Ser)
n.241A>C
c.125A>C (p.Tyr42Ser)
n.638A>C
n.654A>C
n.360A>C
4g.83279040A>CCA357230601COQ2c.478T>G (p.Tyr160Asp)
c.328T>G (p.Tyr110Asp)
c.19T>G (p.Tyr7Asp)
n.240T>G
c.124T>G (p.Tyr42Asp)
n.637T>G
n.653T>G
n.359T>G
4g.83279040A>GCA357230602COQ2c.478T>C (p.Tyr160His)
c.328T>C (p.Tyr110His)
c.19T>C (p.Tyr7His)
n.240T>C
c.124T>C (p.Tyr42His)
n.637T>C
n.653T>C
n.359T>C
4g.83279040A>TCA357230603COQ2c.478T>A (p.Tyr160Asn)
c.328T>A (p.Tyr110Asn)
c.19T>A (p.Tyr7Asn)
n.240T>A
c.124T>A (p.Tyr42Asn)
n.637T>A
n.653T>A
n.359T>A
4g.83279041C>ACA357230604COQ2c.477G>T (p.Trp159Cys)
c.327G>T (p.Trp109Cys)
c.18G>T (p.Trp6Cys)
n.239G>T
c.123G>T (p.Trp41Cys)
n.636G>T
n.652G>T
n.358G>T
4g.83279041C>GCA357230605COQ2c.477G>C (p.Trp159Cys)
c.327G>C (p.Trp109Cys)
c.18G>C (p.Trp6Cys)
n.239G>C
c.123G>C (p.Trp41Cys)
n.636G>C
n.652G>C
n.358G>C
4g.83279041C>TCA357230606COQ2c.477G>A (p.Trp159Ter)
c.327G>A (p.Trp109Ter)
c.18G>A (p.Trp6Ter)
n.239G>A
c.123G>A (p.Trp41Ter)
n.636G>A
n.652G>A
n.358G>A
4g.83279042C>ACA357230607COQ2c.476G>T (p.Trp159Leu)
c.326G>T (p.Trp109Leu)
c.17G>T (p.Trp6Leu)
n.238G>T
c.122G>T (p.Trp41Leu)
n.635G>T
n.651G>T
n.357G>T
 gnomAD v4
4g.83279042C>GCA357230608COQ2c.476G>C (p.Trp159Ser)
c.326G>C (p.Trp109Ser)
c.17G>C (p.Trp6Ser)
n.238G>C
c.122G>C (p.Trp41Ser)
n.635G>C
n.651G>C
n.357G>C
4g.83279042C>TCA357230609COQ2c.476G>A (p.Trp159Ter)
c.326G>A (p.Trp109Ter)
c.17G>A (p.Trp6Ter)
n.238G>A
c.122G>A (p.Trp41Ter)
n.635G>A
n.651G>A
n.357G>A
4g.83279043A>CCA357230611COQ2c.475T>G (p.Trp159Gly)
c.325T>G (p.Trp109Gly)
c.16T>G (p.Trp6Gly)
n.237T>G
c.121T>G (p.Trp41Gly)
n.634T>G
n.650T>G
n.356T>G
4g.83279043A>GCA357230612COQ2c.475T>C (p.Trp159Arg)
c.325T>C (p.Trp109Arg)
c.16T>C (p.Trp6Arg)
n.237T>C
c.121T>C (p.Trp41Arg)
n.634T>C
n.650T>C
n.356T>C
 ClinVar
4g.83279043A>TCA357230610COQ2c.475T>A (p.Trp159Arg)
c.325T>A (p.Trp109Arg)
c.16T>A (p.Trp6Arg)
n.237T>A
c.121T>A (p.Trp41Arg)
n.634T>A
n.650T>A
n.356T>A
4g.83279044A=CA1472713063COQ2c.474T= (p.Asp158=)
c.324T= (p.Asp108=)
c.15T= (p.Asp5=)
n.236T=
c.120T= (p.Asp40=)
n.633T=
n.649T=
n.355T=
4g.83279044A>CCA357230613COQ2c.474T>G (p.Asp158Glu)
c.324T>G (p.Asp108Glu)
c.15T>G (p.Asp5Glu)
n.236T>G
c.120T>G (p.Asp40Glu)
n.633T>G
n.649T>G
n.355T>G
 dbSNP gnomAD v4
4g.83279044A>GCA440108845COQ2c.474T>C (p.Asp158=)
c.324T>C (p.Asp108=)
c.15T>C (p.Asp5=)
n.236T>C
c.120T>C (p.Asp40=)
n.633T>C
n.649T>C
n.355T>C
 gnomAD v4
4g.83279044A>TCA357230614COQ2c.474T>A (p.Asp158Glu)
c.324T>A (p.Asp108Glu)
c.15T>A (p.Asp5Glu)
n.236T>A
c.120T>A (p.Asp40Glu)
n.633T>A
n.649T>A
n.355T>A
4g.83279045T>ACA357230615COQ2c.473A>T (p.Asp158Val)
c.323A>T (p.Asp108Val)
c.14A>T (p.Asp5Val)
n.235A>T
c.119A>T (p.Asp40Val)
n.632A>T
n.648A>T
n.354A>T
4g.83279045T>CCA357230616COQ2c.473A>G (p.Asp158Gly)
c.323A>G (p.Asp108Gly)
c.14A>G (p.Asp5Gly)
n.235A>G
c.119A>G (p.Asp40Gly)
n.632A>G
n.648A>G
n.354A>G
4g.83279045T>GCA357230617COQ2c.473A>C (p.Asp158Ala)
c.323A>C (p.Asp108Ala)
c.14A>C (p.Asp5Ala)
n.235A>C
c.119A>C (p.Asp40Ala)
n.632A>C
n.648A>C
n.354A>C
4g.83279046C>ACA357230620COQ2c.472G>T (p.Asp158Tyr)
c.322G>T (p.Asp108Tyr)
c.13G>T (p.Asp5Tyr)
n.234G>T
c.118G>T (p.Asp40Tyr)
n.631G>T
n.647G>T
n.353G>T
 gnomAD v4
4g.83279046C>GCA357230618COQ2c.472G>C (p.Asp158His)
c.322G>C (p.Asp108His)
c.13G>C (p.Asp5His)
n.234G>C
c.118G>C (p.Asp40His)
n.631G>C
n.647G>C
n.353G>C
 gnomAD v4
4g.83279046C>TCA357230619COQ2c.472G>A (p.Asp158Asn)
c.322G>A (p.Asp108Asn)
c.13G>A (p.Asp5Asn)
n.234G>A
c.118G>A (p.Asp40Asn)
n.631G>A
n.647G>A
n.353G>A
 gnomAD v4
4g.83279047T>ACA440108859COQ2c.471A>T (p.Pro157=)
c.321A>T (p.Pro107=)
c.12A>T (p.Pro4=)
n.233A>T
c.117A>T (p.Pro39=)
n.630A>T
n.646A>T
n.352A>T
4g.83279047T>CCA440108860COQ2c.471A>G (p.Pro157=)
c.321A>G (p.Pro107=)
c.12A>G (p.Pro4=)
n.233A>G
c.117A>G (p.Pro39=)
n.630A>G
n.646A>G
n.352A>G
4g.83279047T>GCA440108863COQ2c.471A>C (p.Pro157=)
c.321A>C (p.Pro107=)
c.12A>C (p.Pro4=)
n.233A>C
c.117A>C (p.Pro39=)
n.630A>C
n.646A>C
n.352A>C
4g.83279048G>ACA357230621COQ2c.470C>T (p.Pro157Leu)
c.320C>T (p.Pro107Leu)
c.11C>T (p.Pro4Leu)
n.232C>T
c.116C>T (p.Pro39Leu)
n.629C>T
n.645C>T
n.351C>T
4g.83279048G>CCA357230622COQ2c.470C>G (p.Pro157Arg)
c.320C>G (p.Pro107Arg)
c.11C>G (p.Pro4Arg)
n.232C>G
c.116C>G (p.Pro39Arg)
n.629C>G
n.645C>G
n.351C>G
4g.83279048G>TCA357230623COQ2c.470C>A (p.Pro157Gln)
c.320C>A (p.Pro107Gln)
c.11C>A (p.Pro4Gln)
n.232C>A
c.116C>A (p.Pro39Gln)
n.629C>A
n.645C>A
n.351C>A
 gnomAD v4
4g.83279049G>ACA357230624COQ2c.469C>T (p.Pro157Ser)
c.319C>T (p.Pro107Ser)
c.10C>T (p.Pro4Ser)
n.231C>T
c.115C>T (p.Pro39Ser)
n.628C>T
n.644C>T
n.350C>T
 dbSNP gnomAD v2 gnomAD v4
4g.83279049G>CCA357230625COQ2c.469C>G (p.Pro157Ala)
c.319C>G (p.Pro107Ala)
c.10C>G (p.Pro4Ala)
n.231C>G
c.115C>G (p.Pro39Ala)
n.628C>G
n.644C>G
n.350C>G
4g.83279049G=CA1472713064COQ2c.469C= (p.Pro157=)
c.319C= (p.Pro107=)
c.10C= (p.Pro4=)
n.231C=
c.115C= (p.Pro39=)
n.628C=
n.644C=
n.350C=
4g.83279049G>TCA357230626COQ2c.469C>A (p.Pro157Thr)
c.319C>A (p.Pro107Thr)
c.10C>A (p.Pro4Thr)
n.231C>A
c.115C>A (p.Pro39Thr)
n.628C>A
n.644C>A
n.350C>A
4g.83279049_83279050delCA2671245767COQ2c.468_469del (p.Pro157ArgfsTer23)
c.318_319del (p.Pro107ArgfsTer23)
c.9_10del (p.Pro4ArgfsTer23)
n.230_231del
c.114_115del (p.Pro39ArgfsTer23)
n.627_628del
n.643_644del
n.349_350del
 gnomAD v4
4g.83279050A>CCA357230627COQ2c.468T>G (p.Phe156Leu)
c.318T>G (p.Phe106Leu)
c.9T>G (p.Phe3Leu)
n.230T>G
c.114T>G (p.Phe38Leu)
n.627T>G
n.643T>G
n.349T>G
4g.83279050A>GCA440108880COQ2c.468T>C (p.Phe156=)
c.318T>C (p.Phe106=)
c.9T>C (p.Phe3=)
n.230T>C
c.114T>C (p.Phe38=)
n.627T>C
n.643T>C
n.349T>C
4g.83279050A>TCA357230628COQ2c.468T>A (p.Phe156Leu)
c.318T>A (p.Phe106Leu)
c.9T>A (p.Phe3Leu)
n.230T>A
c.114T>A (p.Phe38Leu)
n.627T>A
n.643T>A
n.349T>A
 gnomAD v4
4g.83279051A=CA1472713065COQ2c.467T= (p.Phe156=)
c.317T= (p.Phe106=)
c.8T= (p.Phe3=)
n.229T=
c.113T= (p.Phe38=)
n.626T=
n.642T=
n.348T=
4g.83279051A>CCA357230629COQ2c.467T>G (p.Phe156Cys)
c.317T>G (p.Phe106Cys)
c.8T>G (p.Phe3Cys)
n.229T>G
c.113T>G (p.Phe38Cys)
n.626T>G
n.642T>G
n.348T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.83279051A>GCA324591COQ2c.467T>C (p.Phe156Ser)
c.317T>C (p.Phe106Ser)
c.8T>C (p.Phe3Ser)
n.229T>C
c.113T>C (p.Phe38Ser)
n.626T>C
n.642T>C
n.348T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.83279051A>TCA357230630COQ2c.467T>A (p.Phe156Tyr)
c.317T>A (p.Phe106Tyr)
c.8T>A (p.Phe3Tyr)
n.229T>A
c.113T>A (p.Phe38Tyr)
n.626T>A
n.642T>A
n.348T>A
4g.83279052A>CCA357230631COQ2c.466T>G (p.Phe156Val)
c.316T>G (p.Phe106Val)
c.7T>G (p.Phe3Val)
n.228T>G
c.112T>G (p.Phe38Val)
n.625T>G
n.641T>G
n.347T>G
4g.83279052A>GCA357230632COQ2c.466T>C (p.Phe156Leu)
c.316T>C (p.Phe106Leu)
c.7T>C (p.Phe3Leu)
n.228T>C
c.112T>C (p.Phe38Leu)
n.625T>C
n.641T>C
n.347T>C
4g.83279052A>TCA357230633COQ2c.466T>A (p.Phe156Ile)
c.316T>A (p.Phe106Ile)
c.7T>A (p.Phe3Ile)
n.228T>A
c.112T>A (p.Phe38Ile)
n.625T>A
n.641T>A
n.347T>A
4g.83279053A>CCA357230635COQ2c.465T>G (p.Cys155Trp)
c.315T>G (p.Cys105Trp)
c.6T>G (p.Cys2Trp)
n.227T>G
c.111T>G (p.Cys37Trp)
n.624T>G
n.640T>G
n.346T>G
4g.83279053A>GCA440108890COQ2c.465T>C (p.Cys155=)
c.315T>C (p.Cys105=)
c.6T>C (p.Cys2=)
n.227T>C
c.111T>C (p.Cys37=)
n.624T>C
n.640T>C
n.346T>C
4g.83279053A>TCA357230634COQ2c.465T>A (p.Cys155Ter)
c.315T>A (p.Cys105Ter)
c.6T>A (p.Cys2Ter)
n.227T>A
c.111T>A (p.Cys37Ter)
n.624T>A
n.640T>A
n.346T>A
4g.83279054C>ACA357230636COQ2c.464G>T (p.Cys155Phe)
c.314G>T (p.Cys105Phe)
c.5G>T (p.Cys2Phe)
n.226G>T
c.110G>T (p.Cys37Phe)
n.623G>T
n.639G>T
n.345G>T
4g.83279054C=CA1472713066COQ2c.464G= (p.Cys155=)
c.314G= (p.Cys105=)
c.5G= (p.Cys2=)
n.226G=
c.110G= (p.Cys37=)
n.623G=
n.639G=
n.345G=
4g.83279054C>GCA357230637COQ2c.464G>C (p.Cys155Ser)
c.314G>C (p.Cys105Ser)
c.5G>C (p.Cys2Ser)
n.226G>C
c.110G>C (p.Cys37Ser)
n.623G>C
n.639G>C
n.345G>C
4g.83279054C>TCA357230638COQ2c.464G>A (p.Cys155Tyr)
c.314G>A (p.Cys105Tyr)
c.5G>A (p.Cys2Tyr)
n.226G>A
c.110G>A (p.Cys37Tyr)
n.623G>A
n.639G>A
n.345G>A
 dbSNP gnomAD v2 gnomAD v4
4g.83279055A>CCA357230639COQ2c.463T>G (p.Cys155Gly)
c.313T>G (p.Cys105Gly)
c.4T>G (p.Cys2Gly)
n.225T>G
c.109T>G (p.Cys37Gly)
n.622T>G
n.638T>G
n.344T>G
4g.83279055A>GCA357230640COQ2c.463T>C (p.Cys155Arg)
c.313T>C (p.Cys105Arg)
c.4T>C (p.Cys2Arg)
n.225T>C
c.109T>C (p.Cys37Arg)
n.622T>C
n.638T>C
n.344T>C
4g.83279055A>TCA357230641COQ2c.463T>A (p.Cys155Ser)
c.313T>A (p.Cys105Ser)
c.4T>A (p.Cys2Ser)
n.225T>A
c.109T>A (p.Cys37Ser)
n.622T>A
n.638T>A
n.344T>A
4g.83279056A=CA1472713067COQ2c.462T= (p.Gly154=)
c.312T= (p.Gly104=)
c.3T= (p.Gly1=)
n.224T=
c.108T= (p.Gly36=)
n.621T=
n.637T=
n.343T=
4g.83279056A>CCA440108941COQ2c.462T>G (p.Gly154=)
c.312T>G (p.Gly104=)
c.3T>G (p.Gly1=)
n.224T>G
c.108T>G (p.Gly36=)
n.621T>G
n.637T>G
n.343T>G
 dbSNP
4g.83279056A>GCA440108947COQ2c.462T>C (p.Gly154=)
c.312T>C (p.Gly104=)
c.3T>C (p.Gly1=)
n.224T>C
c.108T>C (p.Gly36=)
n.621T>C
n.637T>C
n.343T>C
4g.83279056A>TCA440108943COQ2c.462T>A (p.Gly154=)
c.312T>A (p.Gly104=)
c.3T>A (p.Gly1=)
n.224T>A
c.108T>A (p.Gly36=)
n.621T>A
n.637T>A
n.343T>A

Number of alleles fetched