Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.43122766G>ACA4736381POMKc.942G>A (p.Lys314=)
c.*738G>A (n.*738G>A)
c.660G>A (p.Lys220=)
c.*862G>A (n.*862G>A)
c.900G>A (p.Lys300=)
c.*727G>A (n.*727G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122766G>CCA371123018POMKc.942G>C (p.Lys314Asn)
c.*738G>C (n.*738G>C)
c.660G>C (p.Lys220Asn)
c.*862G>C (n.*862G>C)
c.900G>C (p.Lys300Asn)
c.*727G>C (n.*727G>C)
8g.43122766G=CA1779748184POMKc.942G= (p.Lys314=)
c.*738G= (n.*738G=)
c.660G= (p.Lys220=)
c.*862G= (n.*862G=)
c.900G= (p.Lys300=)
c.*727G= (n.*727G=)
8g.43122766G>TCA371123019POMKc.942G>T (p.Lys314Asn)
c.*738G>T (n.*738G>T)
c.660G>T (p.Lys220Asn)
c.*862G>T (n.*862G>T)
c.900G>T (p.Lys300Asn)
c.*727G>T (n.*727G>T)
8g.43122767A>CCA371123020POMKc.943A>C (p.Ser315Arg)
c.*739A>C (n.*739A>C)
c.661A>C (p.Ser221Arg)
c.*863A>C (n.*863A>C)
c.901A>C (p.Ser301Arg)
c.*728A>C (n.*728A>C)
8g.43122767A>GCA371123021POMKc.943A>G (p.Ser315Gly)
c.*739A>G (n.*739A>G)
c.661A>G (p.Ser221Gly)
c.*863A>G (n.*863A>G)
c.901A>G (p.Ser301Gly)
c.*728A>G (n.*728A>G)
gnomAD v4
8g.43122767A>TCA371123022POMKc.943A>T (p.Ser315Cys)
c.*739A>T (n.*739A>T)
c.661A>T (p.Ser221Cys)
c.*863A>T (n.*863A>T)
c.901A>T (p.Ser301Cys)
c.*728A>T (n.*728A>T)
gnomAD v4
8g.43122768G>ACA371123023POMKc.944G>A (p.Ser315Asn)
c.*740G>A (n.*740G>A)
c.662G>A (p.Ser221Asn)
c.*864G>A (n.*864G>A)
c.902G>A (p.Ser301Asn)
c.*729G>A (n.*729G>A)
dbSNP gnomAD v4
8g.43122768G>CCA371123024POMKc.944G>C (p.Ser315Thr)
c.*740G>C (n.*740G>C)
c.662G>C (p.Ser221Thr)
c.*864G>C (n.*864G>C)
c.902G>C (p.Ser301Thr)
c.*729G>C (n.*729G>C)
8g.43122768G=CA1779748188POMKc.944G= (p.Ser315=)
c.*740G= (n.*740G=)
c.662G= (p.Ser221=)
c.*864G= (n.*864G=)
c.902G= (p.Ser301=)
c.*729G= (n.*729G=)
8g.43122768G>TCA371123025POMKc.944G>T (p.Ser315Ile)
c.*740G>T (n.*740G>T)
c.662G>T (p.Ser221Ile)
c.*864G>T (n.*864G>T)
c.902G>T (p.Ser301Ile)
c.*729G>T (n.*729G>T)
8g.43122769C>ACA371123026POMKc.945C>A (p.Ser315Arg)
c.*741C>A (n.*741C>A)
c.663C>A (p.Ser221Arg)
c.*865C>A (n.*865C>A)
c.903C>A (p.Ser301Arg)
c.*730C>A (n.*730C>A)
8g.43122769C=CA1779748190POMKc.945C= (p.Ser315=)
c.*741C= (n.*741C=)
c.663C= (p.Ser221=)
c.*865C= (n.*865C=)
c.903C= (p.Ser301=)
c.*730C= (n.*730C=)
8g.43122769C>GCA371123027POMKc.945C>G (p.Ser315Arg)
c.*741C>G (n.*741C>G)
c.663C>G (p.Ser221Arg)
c.*865C>G (n.*865C>G)
c.903C>G (p.Ser301Arg)
c.*730C>G (n.*730C>G)
dbSNP gnomAD v3 gnomAD v4
8g.43122769C>TCA460787534POMKc.945C>T (p.Ser315=)
c.*741C>T (n.*741C>T)
c.663C>T (p.Ser221=)
c.*865C>T (n.*865C>T)
c.903C>T (p.Ser301=)
c.*730C>T (n.*730C>T)
8g.43122770C>ACA371123030POMKc.946C>A (p.Gln316Lys)
c.*742C>A (n.*742C>A)
c.664C>A (p.Gln222Lys)
c.*866C>A (n.*866C>A)
c.904C>A (p.Gln302Lys)
c.*731C>A (n.*731C>A)
8g.43122770C>GCA371123029POMKc.946C>G (p.Gln316Glu)
c.*742C>G (n.*742C>G)
c.664C>G (p.Gln222Glu)
c.*866C>G (n.*866C>G)
c.904C>G (p.Gln302Glu)
c.*731C>G (n.*731C>G)
8g.43122770C>TCA371123028POMKc.946C>T (p.Gln316Ter)
c.*742C>T (n.*742C>T)
c.664C>T (p.Gln222Ter)
c.*866C>T (n.*866C>T)
c.904C>T (p.Gln302Ter)
c.*731C>T (n.*731C>T)
gnomAD v4
8g.43122771A>CCA371123031POMKc.947A>C (p.Gln316Pro)
c.*743A>C (n.*743A>C)
c.665A>C (p.Gln222Pro)
c.*867A>C (n.*867A>C)
c.905A>C (p.Gln302Pro)
c.*732A>C (n.*732A>C)
8g.43122771A>GCA371123032POMKc.947A>G (p.Gln316Arg)
c.*743A>G (n.*743A>G)
c.665A>G (p.Gln222Arg)
c.*867A>G (n.*867A>G)
c.905A>G (p.Gln302Arg)
c.*732A>G (n.*732A>G)
8g.43122771A>TCA371123033POMKc.947A>T (p.Gln316Leu)
c.*743A>T (n.*743A>T)
c.665A>T (p.Gln222Leu)
c.*867A>T (n.*867A>T)
c.905A>T (p.Gln302Leu)
c.*732A>T (n.*732A>T)
8g.43122772G>ACA460787535POMKc.948G>A (p.Gln316=)
c.*744G>A (n.*744G>A)
c.666G>A (p.Gln222=)
c.*868G>A (n.*868G>A)
c.906G>A (p.Gln302=)
c.*733G>A (n.*733G>A)
8g.43122772G>CCA371123034POMKc.948G>C (p.Gln316His)
c.*744G>C (n.*744G>C)
c.666G>C (p.Gln222His)
c.*868G>C (n.*868G>C)
c.906G>C (p.Gln302His)
c.*733G>C (n.*733G>C)
8g.43122772G>TCA371123035POMKc.948G>T (p.Gln316His)
c.*744G>T (n.*744G>T)
c.666G>T (p.Gln222His)
c.*868G>T (n.*868G>T)
c.906G>T (p.Gln302His)
c.*733G>T (n.*733G>T)
8g.43122773A>CCA371123038POMKc.949A>C (p.Thr317Pro)
c.*745A>C (n.*745A>C)
c.667A>C (p.Thr223Pro)
c.*869A>C (n.*869A>C)
c.907A>C (p.Thr303Pro)
c.*734A>C (n.*734A>C)
8g.43122773A>GCA371123037POMKc.949A>G (p.Thr317Ala)
c.*745A>G (n.*745A>G)
c.667A>G (p.Thr223Ala)
c.*869A>G (n.*869A>G)
c.907A>G (p.Thr303Ala)
c.*734A>G (n.*734A>G)
8g.43122773A>TCA371123036POMKc.949A>T (p.Thr317Ser)
c.*745A>T (n.*745A>T)
c.667A>T (p.Thr223Ser)
c.*869A>T (n.*869A>T)
c.907A>T (p.Thr303Ser)
c.*734A>T (n.*734A>T)
8g.43122774C>ACA371123039POMKc.950C>A (p.Thr317Asn)
c.*746C>A (n.*746C>A)
c.668C>A (p.Thr223Asn)
c.*870C>A (n.*870C>A)
c.908C>A (p.Thr303Asn)
c.*735C>A (n.*735C>A)
8g.43122774C>GCA371123040POMKc.950C>G (p.Thr317Ser)
c.*746C>G (n.*746C>G)
c.668C>G (p.Thr223Ser)
c.*870C>G (n.*870C>G)
c.908C>G (p.Thr303Ser)
c.*735C>G (n.*735C>G)
8g.43122774C>TCA371123041POMKc.950C>T (p.Thr317Ile)
c.*746C>T (n.*746C>T)
c.668C>T (p.Thr223Ile)
c.*870C>T (n.*870C>T)
c.908C>T (p.Thr303Ile)
c.*735C>T (n.*735C>T)
gnomAD v4
8g.43122777_43122780delCA2687148605POMKc.953_956del (p.Pro318GlnfsTer24)
c.*749_*752del (n.*749_*752del)
c.671_674del (p.Pro224GlnfsTer24)
c.*873_*876del (n.*873_*876del)
c.911_914del (p.Pro304GlnfsTer24)
c.*738_*741del (n.*738_*741del)
gnomAD v4
8g.43122775T>ACA460787538POMKc.951T>A (p.Thr317=)
c.*747T>A (n.*747T>A)
c.669T>A (p.Thr223=)
c.*871T>A (n.*871T>A)
c.909T>A (p.Thr303=)
c.*736T>A (n.*736T>A)
8g.43122775T>CCA460787539POMKc.951T>C (p.Thr317=)
c.*747T>C (n.*747T>C)
c.669T>C (p.Thr223=)
c.*871T>C (n.*871T>C)
c.909T>C (p.Thr303=)
c.*736T>C (n.*736T>C)
gnomAD v4
8g.43122775T>GCA460787540POMKc.951T>G (p.Thr317=)
c.*747T>G (n.*747T>G)
c.669T>G (p.Thr223=)
c.*871T>G (n.*871T>G)
c.909T>G (p.Thr303=)
c.*736T>G (n.*736T>G)
8g.43122776C>ACA371123042POMKc.952C>A (p.Pro318Thr)
c.*748C>A (n.*748C>A)
c.670C>A (p.Pro224Thr)
c.*872C>A (n.*872C>A)
c.910C>A (p.Pro304Thr)
c.*737C>A (n.*737C>A)
8g.43122776C>GCA371123043POMKc.952C>G (p.Pro318Ala)
c.*748C>G (n.*748C>G)
c.670C>G (p.Pro224Ala)
c.*872C>G (n.*872C>G)
c.910C>G (p.Pro304Ala)
c.*737C>G (n.*737C>G)
8g.43122776C>TCA371123044POMKc.952C>T (p.Pro318Ser)
c.*748C>T (n.*748C>T)
c.670C>T (p.Pro224Ser)
c.*872C>T (n.*872C>T)
c.910C>T (p.Pro304Ser)
c.*737C>T (n.*737C>T)
8g.43122777C>ACA371123045POMKc.953C>A (p.Pro318His)
c.*749C>A (n.*749C>A)
c.671C>A (p.Pro224His)
c.*873C>A (n.*873C>A)
c.911C>A (p.Pro304His)
c.*738C>A (n.*738C>A)
8g.43122777C>GCA371123047POMKc.953C>G (p.Pro318Arg)
c.*749C>G (n.*749C>G)
c.671C>G (p.Pro224Arg)
c.*873C>G (n.*873C>G)
c.911C>G (p.Pro304Arg)
c.*738C>G (n.*738C>G)
8g.43122777C>TCA371123046POMKc.953C>T (p.Pro318Leu)
c.*749C>T (n.*749C>T)
c.671C>T (p.Pro224Leu)
c.*873C>T (n.*873C>T)
c.911C>T (p.Pro304Leu)
c.*738C>T (n.*738C>T)
COSMIC COSMIC
8g.43122778C>ACA460787544POMKc.954C>A (p.Pro318=)
c.*750C>A (n.*750C>A)
c.672C>A (p.Pro224=)
c.*874C>A (n.*874C>A)
c.912C>A (p.Pro304=)
c.*739C>A (n.*739C>A)
8g.43122778C=CA1779748193POMKc.954C= (p.Pro318=)
c.*750C= (n.*750C=)
c.672C= (p.Pro224=)
c.*874C= (n.*874C=)
c.912C= (p.Pro304=)
c.*739C= (n.*739C=)
8g.43122778C>GCA176080780POMKc.954C>G (p.Pro318=)
c.*750C>G (n.*750C>G)
c.672C>G (p.Pro224=)
c.*874C>G (n.*874C>G)
c.912C>G (p.Pro304=)
c.*739C>G (n.*739C>G)
dbSNP gnomAD v2 gnomAD v4
8g.43122778C>TCA460787545POMKc.954C>T (p.Pro318=)
c.*750C>T (n.*750C>T)
c.672C>T (p.Pro224=)
c.*874C>T (n.*874C>T)
c.912C>T (p.Pro304=)
c.*739C>T (n.*739C>T)
8g.43122779T>ACA371123048POMKc.955T>A (p.Ser319Thr)
c.*751T>A (n.*751T>A)
c.673T>A (p.Ser225Thr)
c.*875T>A (n.*875T>A)
c.913T>A (p.Ser305Thr)
c.*740T>A (n.*740T>A)
8g.43122779T>CCA371123049POMKc.955T>C (p.Ser319Pro)
c.*751T>C (n.*751T>C)
c.673T>C (p.Ser225Pro)
c.*875T>C (n.*875T>C)
c.913T>C (p.Ser305Pro)
c.*740T>C (n.*740T>C)
8g.43122779T>GCA371123050POMKc.955T>G (p.Ser319Ala)
c.*751T>G (n.*751T>G)
c.673T>G (p.Ser225Ala)
c.*875T>G (n.*875T>G)
c.913T>G (p.Ser305Ala)
c.*740T>G (n.*740T>G)
8g.43122780C>ACA371123051POMKc.956C>A (p.Ser319Ter)
c.*752C>A (n.*752C>A)
c.674C>A (p.Ser225Ter)
c.*876C>A (n.*876C>A)
c.914C>A (p.Ser305Ter)
c.*741C>A (n.*741C>A)
8g.43122780C=CA1779748198POMKc.956C= (p.Ser319=)
c.*752C= (n.*752C=)
c.674C= (p.Ser225=)
c.*876C= (n.*876C=)
c.914C= (p.Ser305=)
c.*741C= (n.*741C=)
8g.43122780C>GCA371123052POMKc.956C>G (p.Ser319Ter)
c.*752C>G (n.*752C>G)
c.674C>G (p.Ser225Ter)
c.*876C>G (n.*876C>G)
c.914C>G (p.Ser305Ter)
c.*741C>G (n.*741C>G)
8g.43122780C>TCA371123053POMKc.956C>T (p.Ser319Leu)
c.*752C>T (n.*752C>T)
c.674C>T (p.Ser225Leu)
c.*876C>T (n.*876C>T)
c.914C>T (p.Ser305Leu)
c.*741C>T (n.*741C>T)
dbSNP gnomAD v4
8g.43122781A=CA1779748202POMKc.957A= (p.Ser319=)
c.*753A= (n.*753A=)
c.675A= (p.Ser225=)
c.*877A= (n.*877A=)
c.915A= (p.Ser305=)
c.*742A= (n.*742A=)
8g.43122781A>CCA460787546POMKc.957A>C (p.Ser319=)
c.*753A>C (n.*753A>C)
c.675A>C (p.Ser225=)
c.*877A>C (n.*877A>C)
c.915A>C (p.Ser305=)
c.*742A>C (n.*742A>C)
8g.43122781A>GCA176080782POMKc.957A>G (p.Ser319=)
c.*753A>G (n.*753A>G)
c.675A>G (p.Ser225=)
c.*877A>G (n.*877A>G)
c.915A>G (p.Ser305=)
c.*742A>G (n.*742A>G)
dbSNP
8g.43122781A>TCA460787547POMKc.957A>T (p.Ser319=)
c.*753A>T (n.*753A>T)
c.675A>T (p.Ser225=)
c.*877A>T (n.*877A>T)
c.915A>T (p.Ser305=)
c.*742A>T (n.*742A>T)
8g.43122784_43122787delCA2687148610POMKc.960_963del (p.Glu320AspfsTer22)
c.*756_*759del (n.*756_*759del)
c.678_681del (p.Glu226AspfsTer22)
c.*880_*883del (n.*880_*883del)
c.918_921del (p.Glu306AspfsTer22)
c.*745_*748del (n.*745_*748del)
gnomAD v4
8g.43122782G>ACA371123054POMKc.958G>A (p.Glu320Lys)
c.*754G>A (n.*754G>A)
c.676G>A (p.Glu226Lys)
c.*878G>A (n.*878G>A)
c.916G>A (p.Glu306Lys)
c.*743G>A (n.*743G>A)
8g.43122782G>CCA371123055POMKc.958G>C (p.Glu320Gln)
c.*754G>C (n.*754G>C)
c.676G>C (p.Glu226Gln)
c.*878G>C (n.*878G>C)
c.916G>C (p.Glu306Gln)
c.*743G>C (n.*743G>C)
8g.43122782G>TCA371123056POMKc.958G>T (p.Glu320Ter)
c.*754G>T (n.*754G>T)
c.676G>T (p.Glu226Ter)
c.*878G>T (n.*878G>T)
c.916G>T (p.Glu306Ter)
c.*743G>T (n.*743G>T)
8g.43122783A>CCA371123057POMKc.959A>C (p.Glu320Ala)
c.*755A>C (n.*755A>C)
c.677A>C (p.Glu226Ala)
c.*879A>C (n.*879A>C)
c.917A>C (p.Glu306Ala)
c.*744A>C (n.*744A>C)
8g.43122783A>GCA371123058POMKc.959A>G (p.Glu320Gly)
c.*755A>G (n.*755A>G)
c.677A>G (p.Glu226Gly)
c.*879A>G (n.*879A>G)
c.917A>G (p.Glu306Gly)
c.*744A>G (n.*744A>G)
8g.43122783A>TCA371123059POMKc.959A>T (p.Glu320Val)
c.*755A>T (n.*755A>T)
c.677A>T (p.Glu226Val)
c.*879A>T (n.*879A>T)
c.917A>T (p.Glu306Val)
c.*744A>T (n.*744A>T)
8g.43122784A>CCA371123061POMKc.960A>C (p.Glu320Asp)
c.*756A>C (n.*756A>C)
c.678A>C (p.Glu226Asp)
c.*880A>C (n.*880A>C)
c.918A>C (p.Glu306Asp)
c.*745A>C (n.*745A>C)
8g.43122784A>GCA460787549POMKc.960A>G (p.Glu320=)
c.*756A>G (n.*756A>G)
c.678A>G (p.Glu226=)
c.*880A>G (n.*880A>G)
c.918A>G (p.Glu306=)
c.*745A>G (n.*745A>G)
gnomAD v4
8g.43122784A>TCA371123060POMKc.960A>T (p.Glu320Asp)
c.*756A>T (n.*756A>T)
c.678A>T (p.Glu226Asp)
c.*880A>T (n.*880A>T)
c.918A>T (p.Glu306Asp)
c.*745A>T (n.*745A>T)
8g.43122785A>CCA460787550POMKc.961A>C (p.Arg321=)
c.*757A>C (n.*757A>C)
c.679A>C (p.Arg227=)
c.*881A>C (n.*881A>C)
c.919A>C (p.Arg307=)
c.*746A>C (n.*746A>C)
8g.43122785A>GCA371123062POMKc.961A>G (p.Arg321Gly)
c.*757A>G (n.*757A>G)
c.679A>G (p.Arg227Gly)
c.*881A>G (n.*881A>G)
c.919A>G (p.Arg307Gly)
c.*746A>G (n.*746A>G)
8g.43122785A>TCA371123063POMKc.961A>T (p.Arg321Ter)
c.*757A>T (n.*757A>T)
c.679A>T (p.Arg227Ter)
c.*881A>T (n.*881A>T)
c.919A>T (p.Arg307Ter)
c.*746A>T (n.*746A>T)
8g.43122786G>ACA371123064POMKc.962G>A (p.Arg321Lys)
c.*758G>A (n.*758G>A)
c.680G>A (p.Arg227Lys)
c.*882G>A (n.*882G>A)
c.920G>A (p.Arg307Lys)
c.*747G>A (n.*747G>A)
8g.43122786G>CCA371123066POMKc.962G>C (p.Arg321Thr)
c.*758G>C (n.*758G>C)
c.680G>C (p.Arg227Thr)
c.*882G>C (n.*882G>C)
c.920G>C (p.Arg307Thr)
c.*747G>C (n.*747G>C)
8g.43122786G>TCA371123065POMKc.962G>T (p.Arg321Ile)
c.*758G>T (n.*758G>T)
c.680G>T (p.Arg227Ile)
c.*882G>T (n.*882G>T)
c.920G>T (p.Arg307Ile)
c.*747G>T (n.*747G>T)
8g.43122787A>CCA371123067POMKc.963A>C (p.Arg321Ser)
c.*759A>C (n.*759A>C)
c.681A>C (p.Arg227Ser)
c.*883A>C (n.*883A>C)
c.921A>C (p.Arg307Ser)
c.*748A>C (n.*748A>C)
8g.43122787A>GCA460787551POMKc.963A>G (p.Arg321=)
c.*759A>G (n.*759A>G)
c.681A>G (p.Arg227=)
c.*883A>G (n.*883A>G)
c.921A>G (p.Arg307=)
c.*748A>G (n.*748A>G)
8g.43122787A>TCA371123068POMKc.963A>T (p.Arg321Ser)
c.*759A>T (n.*759A>T)
c.681A>T (p.Arg227Ser)
c.*883A>T (n.*883A>T)
c.921A>T (p.Arg307Ser)
c.*748A>T (n.*748A>T)
8g.43122788C>ACA371123069POMKc.964C>A (p.Pro322Thr)
c.*760C>A (n.*760C>A)
c.682C>A (p.Pro228Thr)
c.*884C>A (n.*884C>A)
c.922C>A (p.Pro308Thr)
c.*749C>A (n.*749C>A)
8g.43122788C>GCA371123070POMKc.964C>G (p.Pro322Ala)
c.*760C>G (n.*760C>G)
c.682C>G (p.Pro228Ala)
c.*884C>G (n.*884C>G)
c.922C>G (p.Pro308Ala)
c.*749C>G (n.*749C>G)
8g.43122788C>TCA371123071POMKc.964C>T (p.Pro322Ser)
c.*760C>T (n.*760C>T)
c.682C>T (p.Pro228Ser)
c.*884C>T (n.*884C>T)
c.922C>T (p.Pro308Ser)
c.*749C>T (n.*749C>T)
8g.43122789C>ACA371123072POMKc.965C>A (p.Pro322His)
c.*761C>A (n.*761C>A)
c.683C>A (p.Pro228His)
c.*885C>A (n.*885C>A)
c.923C>A (p.Pro308His)
c.*750C>A (n.*750C>A)
8g.43122789C=CA1779748209POMKc.965C= (p.Pro322=)
c.*761C= (n.*761C=)
c.683C= (p.Pro228=)
c.*885C= (n.*885C=)
c.923C= (p.Pro308=)
c.*750C= (n.*750C=)
8g.43122789C>GCA371123073POMKc.965C>G (p.Pro322Arg)
c.*761C>G (n.*761C>G)
c.683C>G (p.Pro228Arg)
c.*885C>G (n.*885C>G)
c.923C>G (p.Pro308Arg)
c.*750C>G (n.*750C>G)
8g.43122789C>TCA4736382POMKc.965C>T (p.Pro322Leu)
c.*761C>T (n.*761C>T)
c.683C>T (p.Pro228Leu)
c.*885C>T (n.*885C>T)
c.923C>T (p.Pro308Leu)
c.*750C>T (n.*750C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122790C>ACA460787555POMKc.966C>A (p.Pro322=)
c.*762C>A (n.*762C>A)
c.684C>A (p.Pro228=)
c.*886C>A (n.*886C>A)
c.924C>A (p.Pro308=)
c.*751C>A (n.*751C>A)
8g.43122790C=CA1779748213POMKc.966C= (p.Pro322=)
c.*762C= (n.*762C=)
c.684C= (p.Pro228=)
c.*886C= (n.*886C=)
c.924C= (p.Pro308=)
c.*751C= (n.*751C=)
8g.43122790C>GCA460787557POMKc.966C>G (p.Pro322=)
c.*762C>G (n.*762C>G)
c.684C>G (p.Pro228=)
c.*886C>G (n.*886C>G)
c.924C>G (p.Pro308=)
c.*751C>G (n.*751C>G)
8g.43122790C>TCA4736383POMKc.966C>T (p.Pro322=)
c.*762C>T (n.*762C>T)
c.684C>T (p.Pro228=)
c.*886C>T (n.*886C>T)
c.924C>T (p.Pro308=)
c.*751C>T (n.*751C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122791_43122792insACACACA2779904299POMKc.967_968insACACA (p.Thr323AsnfsTer22)
c.*763_*764insACACA (n.*763_*764insACACA)
c.685_686insACACA (p.Thr229AsnfsTer22)
c.*887_*888insACACA (n.*887_*888insACACA)
c.925_926insACACA (p.Thr309AsnfsTer22)
c.*752_*753insACACA (n.*752_*753insACACA)
8g.43122791A=CA1779748215POMKc.967A= (p.Thr323=)
c.*763A= (n.*763A=)
c.685A= (p.Thr229=)
c.*887A= (n.*887A=)
c.925A= (p.Thr309=)
c.*752A= (n.*752A=)
8g.43122791A>CCA371123074POMKc.967A>C (p.Thr323Pro)
c.*763A>C (n.*763A>C)
c.685A>C (p.Thr229Pro)
c.*887A>C (n.*887A>C)
c.925A>C (p.Thr309Pro)
c.*752A>C (n.*752A>C)
dbSNP
8g.43122791A>GCA4736384POMKc.967A>G (p.Thr323Ala)
c.*763A>G (n.*763A>G)
c.685A>G (p.Thr229Ala)
c.*887A>G (n.*887A>G)
c.925A>G (p.Thr309Ala)
c.*752A>G (n.*752A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122791A>TCA371123075POMKc.967A>T (p.Thr323Ser)
c.*763A>T (n.*763A>T)
c.685A>T (p.Thr229Ser)
c.*887A>T (n.*887A>T)
c.925A>T (p.Thr309Ser)
c.*752A>T (n.*752A>T)
8g.43122792C>ACA371123076POMKc.968C>A (p.Thr323Asn)
c.*764C>A (n.*764C>A)
c.686C>A (p.Thr229Asn)
c.*888C>A (n.*888C>A)
c.926C>A (p.Thr309Asn)
c.*753C>A (n.*753C>A)
dbSNP gnomAD v2 gnomAD v4
8g.43122792C=CA1779748218POMKc.968C= (p.Thr323=)
c.*764C= (n.*764C=)
c.686C= (p.Thr229=)
c.*888C= (n.*888C=)
c.926C= (p.Thr309=)
c.*753C= (n.*753C=)
8g.43122792C>GCA371123077POMKc.968C>G (p.Thr323Ser)
c.*764C>G (n.*764C>G)
c.686C>G (p.Thr229Ser)
c.*888C>G (n.*888C>G)
c.926C>G (p.Thr309Ser)
c.*753C>G (n.*753C>G)
8g.43122792C>TCA176080807POMKc.968C>T (p.Thr323Ile)
c.*764C>T (n.*764C>T)
c.686C>T (p.Thr229Ile)
c.*888C>T (n.*888C>T)
c.926C>T (p.Thr309Ile)
c.*753C>T (n.*753C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43122793T>ACA460787560POMKc.969T>A (p.Thr323=)
c.*765T>A (n.*765T>A)
c.687T>A (p.Thr229=)
c.*889T>A (n.*889T>A)
c.927T>A (p.Thr309=)
c.*754T>A (n.*754T>A)
8g.43122793T>CCA460787561POMKc.969T>C (p.Thr323=)
c.*765T>C (n.*765T>C)
c.687T>C (p.Thr229=)
c.*889T>C (n.*889T>C)
c.927T>C (p.Thr309=)
c.*754T>C (n.*754T>C)
8g.43122793T>GCA460787562POMKc.969T>G (p.Thr323=)
c.*765T>G (n.*765T>G)
c.687T>G (p.Thr229=)
c.*889T>G (n.*889T>G)
c.927T>G (p.Thr309=)
c.*754T>G (n.*754T>G)
8g.43122794G>ACA371123078POMKc.970G>A (p.Ala324Thr)
c.*766G>A (n.*766G>A)
c.688G>A (p.Ala230Thr)
c.*890G>A (n.*890G>A)
c.928G>A (p.Ala310Thr)
c.*755G>A (n.*755G>A)
gnomAD v4
8g.43122794G>CCA371123079POMKc.970G>C (p.Ala324Pro)
c.*766G>C (n.*766G>C)
c.688G>C (p.Ala230Pro)
c.*890G>C (n.*890G>C)
c.928G>C (p.Ala310Pro)
c.*755G>C (n.*755G>C)
8g.43122794G>TCA371123080POMKc.970G>T (p.Ala324Ser)
c.*766G>T (n.*766G>T)
c.688G>T (p.Ala230Ser)
c.*890G>T (n.*890G>T)
c.928G>T (p.Ala310Ser)
c.*755G>T (n.*755G>T)
ClinVar gnomAD v4
8g.43122795C>ACA371123081POMKc.971C>A (p.Ala324Asp)
c.*767C>A (n.*767C>A)
c.689C>A (p.Ala230Asp)
c.*891C>A (n.*891C>A)
c.929C>A (p.Ala310Asp)
c.*756C>A (n.*756C>A)
8g.43122795C=CA1779748223POMKc.971C= (p.Ala324=)
c.*767C= (n.*767C=)
c.689C= (p.Ala230=)
c.*891C= (n.*891C=)
c.929C= (p.Ala310=)
c.*756C= (n.*756C=)
8g.43122795C>GCA371123082POMKc.971C>G (p.Ala324Gly)
c.*767C>G (n.*767C>G)
c.689C>G (p.Ala230Gly)
c.*891C>G (n.*891C>G)
c.929C>G (p.Ala310Gly)
c.*756C>G (n.*756C>G)
8g.43122795C>TCA4736385POMKc.971C>T (p.Ala324Val)
c.*767C>T (n.*767C>T)
c.689C>T (p.Ala230Val)
c.*891C>T (n.*891C>T)
c.929C>T (p.Ala310Val)
c.*756C>T (n.*756C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122796C>ACA460787568POMKc.972C>A (p.Ala324=)
c.*768C>A (n.*768C>A)
c.690C>A (p.Ala230=)
c.*892C>A (n.*892C>A)
c.930C>A (p.Ala310=)
c.*757C>A (n.*757C>A)
8g.43122796C>GCA460787566POMKc.972C>G (p.Ala324=)
c.*768C>G (n.*768C>G)
c.690C>G (p.Ala230=)
c.*892C>G (n.*892C>G)
c.930C>G (p.Ala310=)
c.*757C>G (n.*757C>G)
8g.43122796C>TCA460787567POMKc.972C>T (p.Ala324=)
c.*768C>T (n.*768C>T)
c.690C>T (p.Ala230=)
c.*892C>T (n.*892C>T)
c.930C>T (p.Ala310=)
c.*757C>T (n.*757C>T)
COSMIC COSMIC
8g.43122797C>ACA371123083POMKc.973C>A (p.Gln325Lys)
c.*769C>A (n.*769C>A)
c.691C>A (p.Gln231Lys)
c.*893C>A (n.*893C>A)
c.931C>A (p.Gln311Lys)
c.*758C>A (n.*758C>A)
8g.43122797C>GCA371123084POMKc.973C>G (p.Gln325Glu)
c.*769C>G (n.*769C>G)
c.691C>G (p.Gln231Glu)
c.*893C>G (n.*893C>G)
c.931C>G (p.Gln311Glu)
c.*758C>G (n.*758C>G)
8g.43122797C>TCA371123085POMKc.973C>T (p.Gln325Ter)
c.*769C>T (n.*769C>T)
c.691C>T (p.Gln231Ter)
c.*893C>T (n.*893C>T)
c.931C>T (p.Gln311Ter)
c.*758C>T (n.*758C>T)
gnomAD v4
8g.43122798A>CCA371123087POMKc.974A>C (p.Gln325Pro)
c.*770A>C (n.*770A>C)
c.692A>C (p.Gln231Pro)
c.*894A>C (n.*894A>C)
c.932A>C (p.Gln311Pro)
c.*759A>C (n.*759A>C)
8g.43122798A>GCA371123088POMKc.974A>G (p.Gln325Arg)
c.*770A>G (n.*770A>G)
c.692A>G (p.Gln231Arg)
c.*894A>G (n.*894A>G)
c.932A>G (p.Gln311Arg)
c.*759A>G (n.*759A>G)
8g.43122798A>TCA371123086POMKc.974A>T (p.Gln325Leu)
c.*770A>T (n.*770A>T)
c.692A>T (p.Gln231Leu)
c.*894A>T (n.*894A>T)
c.932A>T (p.Gln311Leu)
c.*759A>T (n.*759A>T)
8g.43122799G>ACA460787569POMKc.975G>A (p.Gln325=)
c.*771G>A (n.*771G>A)
c.693G>A (p.Gln231=)
c.*895G>A (n.*895G>A)
c.933G>A (p.Gln311=)
c.*760G>A (n.*760G>A)
8g.43122799G>CCA371123089POMKc.975G>C (p.Gln325His)
c.*771G>C (n.*771G>C)
c.693G>C (p.Gln231His)
c.*895G>C (n.*895G>C)
c.933G>C (p.Gln311His)
c.*760G>C (n.*760G>C)
8g.43122799G>TCA371123090POMKc.975G>T (p.Gln325His)
c.*771G>T (n.*771G>T)
c.693G>T (p.Gln231His)
c.*895G>T (n.*895G>T)
c.933G>T (p.Gln311His)
c.*760G>T (n.*760G>T)
8g.43122800G>ACA371123091POMKc.976G>A (p.Asp326Asn)
c.*772G>A (n.*772G>A)
c.694G>A (p.Asp232Asn)
c.*896G>A (n.*896G>A)
c.934G>A (p.Asp312Asn)
c.*761G>A (n.*761G>A)
8g.43122800G>CCA371123092POMKc.976G>C (p.Asp326His)
c.*772G>C (n.*772G>C)
c.694G>C (p.Asp232His)
c.*896G>C (n.*896G>C)
c.934G>C (p.Asp312His)
c.*761G>C (n.*761G>C)
8g.43122800G>TCA371123093POMKc.976G>T (p.Asp326Tyr)
c.*772G>T (n.*772G>T)
c.694G>T (p.Asp232Tyr)
c.*896G>T (n.*896G>T)
c.934G>T (p.Asp312Tyr)
c.*761G>T (n.*761G>T)
8g.43122801A>CCA371123094POMKc.977A>C (p.Asp326Ala)
c.*773A>C (n.*773A>C)
c.695A>C (p.Asp232Ala)
c.*897A>C (n.*897A>C)
c.935A>C (p.Asp312Ala)
c.*762A>C (n.*762A>C)
8g.43122801A>GCA371123095POMKc.977A>G (p.Asp326Gly)
c.*773A>G (n.*773A>G)
c.695A>G (p.Asp232Gly)
c.*897A>G (n.*897A>G)
c.935A>G (p.Asp312Gly)
c.*762A>G (n.*762A>G)
8g.43122801A>TCA371123096POMKc.977A>T (p.Asp326Val)
c.*773A>T (n.*773A>T)
c.695A>T (p.Asp232Val)
c.*897A>T (n.*897A>T)
c.935A>T (p.Asp312Val)
c.*762A>T (n.*762A>T)
8g.43122802C>ACA371123097POMKc.978C>A (p.Asp326Glu)
c.*774C>A (n.*774C>A)
c.696C>A (p.Asp232Glu)
c.*898C>A (n.*898C>A)
c.936C>A (p.Asp312Glu)
c.*763C>A (n.*763C>A)
8g.43122802C=CA1779748228POMKc.978C= (p.Asp326=)
c.*774C= (n.*774C=)
c.696C= (p.Asp232=)
c.*898C= (n.*898C=)
c.936C= (p.Asp312=)
c.*763C= (n.*763C=)
8g.43122802C>GCA371123098POMKc.978C>G (p.Asp326Glu)
c.*774C>G (n.*774C>G)
c.696C>G (p.Asp232Glu)
c.*898C>G (n.*898C>G)
c.936C>G (p.Asp312Glu)
c.*763C>G (n.*763C>G)
8g.43122802C>TCA4736387POMKc.978C>T (p.Asp326=)
c.*774C>T (n.*774C>T)
c.696C>T (p.Asp232=)
c.*898C>T (n.*898C>T)
c.936C>T (p.Asp312=)
c.*763C>T (n.*763C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122802_43122803delinsCGCA1779748229POMKc.978_979delinsCG (p.Asp326=)
c.*774_*775delinsCG (n.*774_*775delinsCG)
c.696_697delinsCG (p.Asp232=)
c.*898_*899delinsCG (n.*898_*899delinsCG)
c.936_937delinsCG (p.Asp312=)
c.*763_*764delinsCG (n.*763_*764delinsCG)
8g.43122803delCA4736386POMKc.979del (p.Val327PhefsTer16)
c.*775del (n.*775del)
c.697del (p.Val233PhefsTer16)
c.*899del (n.*899del)
c.937del (p.Val313PhefsTer16)
c.*764del (n.*764del)
dbSNP ExAC gnomAD v4
8g.43122803G>ACA4736388POMKc.979G>A (p.Val327Ile)
c.*775G>A (n.*775G>A)
c.697G>A (p.Val233Ile)
c.*899G>A (n.*899G>A)
c.937G>A (p.Val313Ile)
c.*764G>A (n.*764G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122803G>CCA371123100POMKc.979G>C (p.Val327Leu)
c.*775G>C (n.*775G>C)
c.697G>C (p.Val233Leu)
c.*899G>C (n.*899G>C)
c.937G>C (p.Val313Leu)
c.*764G>C (n.*764G>C)
ClinVar dbSNP gnomAD v4
8g.43122803G=CA1779748237POMKc.979G= (p.Val327=)
c.*775G= (n.*775G=)
c.697G= (p.Val233=)
c.*899G= (n.*899G=)
c.937G= (p.Val313=)
c.*764G= (n.*764G=)
8g.43122803G>TCA371123099POMKc.979G>T (p.Val327Phe)
c.*775G>T (n.*775G>T)
c.697G>T (p.Val233Phe)
c.*899G>T (n.*899G>T)
c.937G>T (p.Val313Phe)
c.*764G>T (n.*764G>T)
gnomAD v4
8g.43122804T>ACA371123101POMKc.980T>A (p.Val327Asp)
c.*776T>A (n.*776T>A)
c.698T>A (p.Val233Asp)
c.*900T>A (n.*900T>A)
c.938T>A (p.Val313Asp)
c.*765T>A (n.*765T>A)
8g.43122804T>CCA371123102POMKc.980T>C (p.Val327Ala)
c.*776T>C (n.*776T>C)
c.698T>C (p.Val233Ala)
c.*900T>C (n.*900T>C)
c.938T>C (p.Val313Ala)
c.*765T>C (n.*765T>C)
gnomAD v4
8g.43122804T>GCA371123103POMKc.980T>G (p.Val327Gly)
c.*776T>G (n.*776T>G)
c.698T>G (p.Val233Gly)
c.*900T>G (n.*900T>G)
c.938T>G (p.Val313Gly)
c.*765T>G (n.*765T>G)
8g.43122805T>ACA460787574POMKc.981T>A (p.Val327=)
c.*777T>A (n.*777T>A)
c.699T>A (p.Val233=)
c.*901T>A (n.*901T>A)
c.939T>A (p.Val313=)
c.*766T>A (n.*766T>A)
8g.43122805T>CCA460787575POMKc.981T>C (p.Val327=)
c.*777T>C (n.*777T>C)
c.699T>C (p.Val233=)
c.*901T>C (n.*901T>C)
c.939T>C (p.Val313=)
c.*766T>C (n.*766T>C)
8g.43122805T>GCA460787576POMKc.981T>G (p.Val327=)
c.*777T>G (n.*777T>G)
c.699T>G (p.Val233=)
c.*901T>G (n.*901T>G)
c.939T>G (p.Val313=)
c.*766T>G (n.*766T>G)
8g.43122806C>ACA371123104POMKc.982C>A (p.Leu328Met)
c.*778C>A (n.*778C>A)
c.700C>A (p.Leu234Met)
c.*902C>A (n.*902C>A)
c.940C>A (p.Leu314Met)
c.*767C>A (n.*767C>A)
8g.43122806C>GCA371123105POMKc.982C>G (p.Leu328Val)
c.*778C>G (n.*778C>G)
c.700C>G (p.Leu234Val)
c.*902C>G (n.*902C>G)
c.940C>G (p.Leu314Val)
c.*767C>G (n.*767C>G)
8g.43122806C>TCA460787577POMKc.982C>T (p.Leu328=)
c.*778C>T (n.*778C>T)
c.700C>T (p.Leu234=)
c.*902C>T (n.*902C>T)
c.940C>T (p.Leu314=)
c.*767C>T (n.*767C>T)
8g.43122807T>ACA371123108POMKc.983T>A (p.Leu328Gln)
c.*779T>A (n.*779T>A)
c.701T>A (p.Leu234Gln)
c.*903T>A (n.*903T>A)
c.941T>A (p.Leu314Gln)
c.*768T>A (n.*768T>A)
8g.43122807T>CCA371123106POMKc.983T>C (p.Leu328Pro)
c.*779T>C (n.*779T>C)
c.701T>C (p.Leu234Pro)
c.*903T>C (n.*903T>C)
c.941T>C (p.Leu314Pro)
c.*768T>C (n.*768T>C)
8g.43122807T>GCA371123107POMKc.983T>G (p.Leu328Arg)
c.*779T>G (n.*779T>G)
c.701T>G (p.Leu234Arg)
c.*903T>G (n.*903T>G)
c.941T>G (p.Leu314Arg)
c.*768T>G (n.*768T>G)
8g.43122808G>ACA460787581POMKc.984G>A (p.Leu328=)
c.*780G>A (n.*780G>A)
c.702G>A (p.Leu234=)
c.*904G>A (n.*904G>A)
c.942G>A (p.Leu314=)
c.*769G>A (n.*769G>A)
8g.43122808G>CCA460787582POMKc.984G>C (p.Leu328=)
c.*780G>C (n.*780G>C)
c.702G>C (p.Leu234=)
c.*904G>C (n.*904G>C)
c.942G>C (p.Leu314=)
c.*769G>C (n.*769G>C)
8g.43122808G>TCA460787583POMKc.984G>T (p.Leu328=)
c.*780G>T (n.*780G>T)
c.702G>T (p.Leu234=)
c.*904G>T (n.*904G>T)
c.942G>T (p.Leu314=)
c.*769G>T (n.*769G>T)
8g.43122809G>ACA371123109POMKc.985G>A (p.Glu329Lys)
c.*781G>A (n.*781G>A)
c.703G>A (p.Glu235Lys)
c.*905G>A (n.*905G>A)
c.943G>A (p.Glu315Lys)
c.*770G>A (n.*770G>A)
8g.43122809G>CCA371123110POMKc.985G>C (p.Glu329Gln)
c.*781G>C (n.*781G>C)
c.703G>C (p.Glu235Gln)
c.*905G>C (n.*905G>C)
c.943G>C (p.Glu315Gln)
c.*770G>C (n.*770G>C)
8g.43122809G>TCA371123111POMKc.985G>T (p.Glu329Ter)
c.*781G>T (n.*781G>T)
c.703G>T (p.Glu235Ter)
c.*905G>T (n.*905G>T)
c.943G>T (p.Glu315Ter)
c.*770G>T (n.*770G>T)
8g.43122810A>CCA371123112POMKc.986A>C (p.Glu329Ala)
c.*782A>C (n.*782A>C)
c.704A>C (p.Glu235Ala)
c.*906A>C (n.*906A>C)
c.944A>C (p.Glu315Ala)
c.*771A>C (n.*771A>C)
8g.43122810A>GCA371123113POMKc.986A>G (p.Glu329Gly)
c.*782A>G (n.*782A>G)
c.704A>G (p.Glu235Gly)
c.*906A>G (n.*906A>G)
c.944A>G (p.Glu315Gly)
c.*771A>G (n.*771A>G)
COSMIC COSMIC
8g.43122810A>TCA371123114POMKc.986A>T (p.Glu329Val)
c.*782A>T (n.*782A>T)
c.704A>T (p.Glu235Val)
c.*906A>T (n.*906A>T)
c.944A>T (p.Glu315Val)
c.*771A>T (n.*771A>T)
8g.43122811G>ACA460787584POMKc.987G>A (p.Glu329=)
c.*783G>A (n.*783G>A)
c.705G>A (p.Glu235=)
c.*907G>A (n.*907G>A)
c.945G>A (p.Glu315=)
c.*772G>A (n.*772G>A)
8g.43122811G>CCA371123116POMKc.987G>C (p.Glu329Asp)
c.*783G>C (n.*783G>C)
c.705G>C (p.Glu235Asp)
c.*907G>C (n.*907G>C)
c.945G>C (p.Glu315Asp)
c.*772G>C (n.*772G>C)
8g.43122811G>TCA371123115POMKc.987G>T (p.Glu329Asp)
c.*783G>T (n.*783G>T)
c.705G>T (p.Glu235Asp)
c.*907G>T (n.*907G>T)
c.945G>T (p.Glu315Asp)
c.*772G>T (n.*772G>T)
8g.43122812A>CCA371123117POMKc.988A>C (p.Thr330Pro)
c.*784A>C (n.*784A>C)
c.706A>C (p.Thr236Pro)
c.*908A>C (n.*908A>C)
c.946A>C (p.Thr316Pro)
c.*773A>C (n.*773A>C)
8g.43122812A>GCA371123121POMKc.988A>G (p.Thr330Ala)
c.*784A>G (n.*784A>G)
c.706A>G (p.Thr236Ala)
c.*908A>G (n.*908A>G)
c.946A>G (p.Thr316Ala)
c.*773A>G (n.*773A>G)
8g.43122812A>TCA371123119POMKc.988A>T (p.Thr330Ser)
c.*784A>T (n.*784A>T)
c.706A>T (p.Thr236Ser)
c.*908A>T (n.*908A>T)
c.946A>T (p.Thr316Ser)
c.*773A>T (n.*773A>T)
8g.43122813C>ACA371123123POMKc.989C>A (p.Thr330Asn)
c.*785C>A (n.*785C>A)
c.707C>A (p.Thr236Asn)
c.*909C>A (n.*909C>A)
c.947C>A (p.Thr316Asn)
c.*774C>A (n.*774C>A)
gnomAD v4
8g.43122813C=CA1779748243POMKc.989C= (p.Thr330=)
c.*785C= (n.*785C=)
c.707C= (p.Thr236=)
c.*909C= (n.*909C=)
c.947C= (p.Thr316=)
c.*774C= (n.*774C=)
8g.43122813C>GCA371123125POMKc.989C>G (p.Thr330Ser)
c.*785C>G (n.*785C>G)
c.707C>G (p.Thr236Ser)
c.*909C>G (n.*909C>G)
c.947C>G (p.Thr316Ser)
c.*774C>G (n.*774C>G)
8g.43122813C>TCA4736389POMKc.989C>T (p.Thr330Ile)
c.*785C>T (n.*785C>T)
c.707C>T (p.Thr236Ile)
c.*909C>T (n.*909C>T)
c.947C>T (p.Thr316Ile)
c.*774C>T (n.*774C>T)
dbSNP ExAC gnomAD v2
8g.43122814C>ACA460787587POMKc.990C>A (p.Thr330=)
c.*786C>A (n.*786C>A)
c.708C>A (p.Thr236=)
c.*910C>A (n.*910C>A)
c.948C>A (p.Thr316=)
c.*775C>A (n.*775C>A)
8g.43122814C>GCA460787588POMKc.990C>G (p.Thr330=)
c.*786C>G (n.*786C>G)
c.708C>G (p.Thr236=)
c.*910C>G (n.*910C>G)
c.948C>G (p.Thr316=)
c.*775C>G (n.*775C>G)
8g.43122814C>TCA460787589POMKc.990C>T (p.Thr330=)
c.*786C>T (n.*786C>T)
c.708C>T (p.Thr236=)
c.*910C>T (n.*910C>T)
c.948C>T (p.Thr316=)
c.*775C>T (n.*775C>T)
8g.43122815T>ACA371123129POMKc.991T>A (p.Tyr331Asn)
c.*787T>A (n.*787T>A)
c.709T>A (p.Tyr237Asn)
c.*911T>A (n.*911T>A)
c.949T>A (p.Tyr317Asn)
c.*776T>A (n.*776T>A)
8g.43122815T>CCA371123131POMKc.991T>C (p.Tyr331His)
c.*787T>C (n.*787T>C)
c.709T>C (p.Tyr237His)
c.*911T>C (n.*911T>C)
c.949T>C (p.Tyr317His)
c.*776T>C (n.*776T>C)
gnomAD v4
8g.43122815T>GCA371123133POMKc.991T>G (p.Tyr331Asp)
c.*787T>G (n.*787T>G)
c.709T>G (p.Tyr237Asp)
c.*911T>G (n.*911T>G)
c.949T>G (p.Tyr317Asp)
c.*776T>G (n.*776T>G)
8g.43122816A>CCA371123139POMKc.992A>C (p.Tyr331Ser)
c.*788A>C (n.*788A>C)
c.710A>C (p.Tyr237Ser)
c.*912A>C (n.*912A>C)
c.950A>C (p.Tyr317Ser)
c.*777A>C (n.*777A>C)
8g.43122816A>GCA371123135POMKc.992A>G (p.Tyr331Cys)
c.*788A>G (n.*788A>G)
c.710A>G (p.Tyr237Cys)
c.*912A>G (n.*912A>G)
c.950A>G (p.Tyr317Cys)
c.*777A>G (n.*777A>G)
8g.43122816A>TCA371123138POMKc.992A>T (p.Tyr331Phe)
c.*788A>T (n.*788A>T)
c.710A>T (p.Tyr237Phe)
c.*912A>T (n.*912A>T)
c.950A>T (p.Tyr317Phe)
c.*777A>T (n.*777A>T)
8g.43122817C>ACA371123142POMKc.993C>A (p.Tyr331Ter)
c.*789C>A (n.*789C>A)
c.711C>A (p.Tyr237Ter)
c.*913C>A (n.*913C>A)
c.951C>A (p.Tyr317Ter)
c.*778C>A (n.*778C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43122817C=CA1779748246POMKc.993C= (p.Tyr331=)
c.*789C= (n.*789C=)
c.711C= (p.Tyr237=)
c.*913C= (n.*913C=)
c.951C= (p.Tyr317=)
c.*778C= (n.*778C=)
8g.43122817C>GCA371123144POMKc.993C>G (p.Tyr331Ter)
c.*789C>G (n.*789C>G)
c.711C>G (p.Tyr237Ter)
c.*913C>G (n.*913C>G)
c.951C>G (p.Tyr317Ter)
c.*778C>G (n.*778C>G)
8g.43122817C>TCA460787591POMKc.993C>T (p.Tyr331=)
c.*789C>T (n.*789C>T)
c.711C>T (p.Tyr237=)
c.*913C>T (n.*913C>T)
c.951C>T (p.Tyr317=)
c.*778C>T (n.*778C>T)
dbSNP gnomAD v2 gnomAD v4
8g.43122818C>ACA371123147POMKc.994C>A (p.Gln332Lys)
c.*790C>A (n.*790C>A)
c.712C>A (p.Gln238Lys)
c.*914C>A (n.*914C>A)
c.952C>A (p.Gln318Lys)
c.*779C>A (n.*779C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43122818C=CA1779748252POMKc.994C= (p.Gln332=)
c.*790C= (n.*790C=)
c.712C= (p.Gln238=)
c.*914C= (n.*914C=)
c.952C= (p.Gln318=)
c.*779C= (n.*779C=)
8g.43122818C>GCA371123148POMKc.994C>G (p.Gln332Glu)
c.*790C>G (n.*790C>G)
c.712C>G (p.Gln238Glu)
c.*914C>G (n.*914C>G)
c.952C>G (p.Gln318Glu)
c.*779C>G (n.*779C>G)
8g.43122818C>TCA371123151POMKc.994C>T (p.Gln332Ter)
c.*790C>T (n.*790C>T)
c.712C>T (p.Gln238Ter)
c.*914C>T (n.*914C>T)
c.952C>T (p.Gln318Ter)
c.*779C>T (n.*779C>T)
gnomAD v4
8g.43122819A>CCA371123153POMKc.995A>C (p.Gln332Pro)
c.*791A>C (n.*791A>C)
c.713A>C (p.Gln238Pro)
c.*915A>C (n.*915A>C)
c.953A>C (p.Gln318Pro)
c.*780A>C (n.*780A>C)
8g.43122819A>GCA371123157POMKc.995A>G (p.Gln332Arg)
c.*791A>G (n.*791A>G)
c.713A>G (p.Gln238Arg)
c.*915A>G (n.*915A>G)
c.953A>G (p.Gln318Arg)
c.*780A>G (n.*780A>G)
COSMIC COSMIC
8g.43122819A>TCA371123156POMKc.995A>T (p.Gln332Leu)
c.*791A>T (n.*791A>T)
c.713A>T (p.Gln238Leu)
c.*915A>T (n.*915A>T)
c.953A>T (p.Gln318Leu)
c.*780A>T (n.*780A>T)
8g.43122820G>ACA460787592POMKc.996G>A (p.Gln332=)
c.*792G>A (n.*792G>A)
c.714G>A (p.Gln238=)
c.*916G>A (n.*916G>A)
c.954G>A (p.Gln318=)
c.*781G>A (n.*781G>A)
8g.43122820G>CCA371123159POMKc.996G>C (p.Gln332His)
c.*792G>C (n.*792G>C)
c.714G>C (p.Gln238His)
c.*916G>C (n.*916G>C)
c.954G>C (p.Gln318His)
c.*781G>C (n.*781G>C)
8g.43122820G>TCA371123161POMKc.996G>T (p.Gln332His)
c.*792G>T (n.*792G>T)
c.714G>T (p.Gln238His)
c.*916G>T (n.*916G>T)
c.954G>T (p.Gln318His)
c.*781G>T (n.*781G>T)
8g.43122821A>CCA371123163POMKc.997A>C (p.Lys333Gln)
c.*793A>C (n.*793A>C)
c.715A>C (p.Lys239Gln)
c.*917A>C (n.*917A>C)
c.955A>C (p.Lys319Gln)
c.*782A>C (n.*782A>C)
8g.43122821A>GCA371123165POMKc.997A>G (p.Lys333Glu)
c.*793A>G (n.*793A>G)
c.715A>G (p.Lys239Glu)
c.*917A>G (n.*917A>G)
c.955A>G (p.Lys319Glu)
c.*782A>G (n.*782A>G)
8g.43122821A>TCA371123167POMKc.997A>T (p.Lys333Ter)
c.*793A>T (n.*793A>T)
c.715A>T (p.Lys239Ter)
c.*917A>T (n.*917A>T)
c.955A>T (p.Lys319Ter)
c.*782A>T (n.*782A>T)
8g.43122822A>CCA371123170POMKc.998A>C (p.Lys333Thr)
c.*794A>C (n.*794A>C)
c.716A>C (p.Lys239Thr)
c.*918A>C (n.*918A>C)
c.956A>C (p.Lys319Thr)
c.*783A>C (n.*783A>C)
8g.43122822A>GCA371123172POMKc.998A>G (p.Lys333Arg)
c.*794A>G (n.*794A>G)
c.716A>G (p.Lys239Arg)
c.*918A>G (n.*918A>G)
c.956A>G (p.Lys319Arg)
c.*783A>G (n.*783A>G)
8g.43122822A>TCA371123173POMKc.998A>T (p.Lys333Met)
c.*794A>T (n.*794A>T)
c.716A>T (p.Lys239Met)
c.*918A>T (n.*918A>T)
c.956A>T (p.Lys319Met)
c.*783A>T (n.*783A>T)
8g.43122823G>ACA460787594POMKc.999G>A (p.Lys333=)
c.*795G>A (n.*795G>A)
c.717G>A (p.Lys239=)
c.*919G>A (n.*919G>A)
c.957G>A (p.Lys319=)
c.*784G>A (n.*784G>A)
gnomAD v4
8g.43122823G>CCA371123176POMKc.999G>C (p.Lys333Asn)
c.*795G>C (n.*795G>C)
c.717G>C (p.Lys239Asn)
c.*919G>C (n.*919G>C)
c.957G>C (p.Lys319Asn)
c.*784G>C (n.*784G>C)
8g.43122823G>TCA371123178POMKc.999G>T (p.Lys333Asn)
c.*795G>T (n.*795G>T)
c.717G>T (p.Lys239Asn)
c.*919G>T (n.*919G>T)
c.957G>T (p.Lys319Asn)
c.*784G>T (n.*784G>T)
8g.43122824G>ACA371123184POMKc.1000G>A (p.Val334Ile)
c.*796G>A (n.*796G>A)
c.718G>A (p.Val240Ile)
c.*920G>A (n.*920G>A)
c.958G>A (p.Val320Ile)
c.*785G>A (n.*785G>A)
8g.43122824G>CCA371123182POMKc.1000G>C (p.Val334Leu)
c.*796G>C (n.*796G>C)
c.718G>C (p.Val240Leu)
c.*920G>C (n.*920G>C)
c.958G>C (p.Val320Leu)
c.*785G>C (n.*785G>C)
8g.43122824G>TCA371123180POMKc.1000G>T (p.Val334Phe)
c.*796G>T (n.*796G>T)
c.718G>T (p.Val240Phe)
c.*920G>T (n.*920G>T)
c.958G>T (p.Val320Phe)
c.*785G>T (n.*785G>T)
8g.43122825T>ACA371123187POMKc.1001T>A (p.Val334Asp)
c.*797T>A (n.*797T>A)
c.719T>A (p.Val240Asp)
c.*921T>A (n.*921T>A)
c.959T>A (p.Val320Asp)
c.*786T>A (n.*786T>A)
8g.43122825T>CCA371123189POMKc.1001T>C (p.Val334Ala)
c.*797T>C (n.*797T>C)
c.719T>C (p.Val240Ala)
c.*921T>C (n.*921T>C)
c.959T>C (p.Val320Ala)
c.*786T>C (n.*786T>C)
dbSNP gnomAD v3 gnomAD v4
8g.43122825T>GCA371123191POMKc.1001T>G (p.Val334Gly)
c.*797T>G (n.*797T>G)
c.719T>G (p.Val240Gly)
c.*921T>G (n.*921T>G)
c.959T>G (p.Val320Gly)
c.*786T>G (n.*786T>G)
8g.43122825T=CA1779748257POMKc.1001T= (p.Val334=)
c.*797T= (n.*797T=)
c.719T= (p.Val240=)
c.*921T= (n.*921T=)
c.959T= (p.Val320=)
c.*786T= (n.*786T=)
8g.43122826C>ACA460787596POMKc.1002C>A (p.Val334=)
c.*798C>A (n.*798C>A)
c.720C>A (p.Val240=)
c.*922C>A (n.*922C>A)
c.960C>A (p.Val320=)
c.*787C>A (n.*787C>A)
8g.43122826C=CA1779748263POMKc.1002C= (p.Val334=)
c.*798C= (n.*798C=)
c.720C= (p.Val240=)
c.*922C= (n.*922C=)
c.960C= (p.Val320=)
c.*787C= (n.*787C=)
8g.43122826C>GCA460787597POMKc.1002C>G (p.Val334=)
c.*798C>G (n.*798C>G)
c.720C>G (p.Val240=)
c.*922C>G (n.*922C>G)
c.960C>G (p.Val320=)
c.*787C>G (n.*787C>G)
dbSNP
8g.43122826C>TCA460787598POMKc.1002C>T (p.Val334=)
c.*798C>T (n.*798C>T)
c.720C>T (p.Val240=)
c.*922C>T (n.*922C>T)
c.960C>T (p.Val320=)
c.*787C>T (n.*787C>T)
8g.43122827T>ACA371123194POMKc.1003T>A (p.Leu335Met)
c.*799T>A (n.*799T>A)
c.721T>A (p.Leu241Met)
c.*923T>A (n.*923T>A)
c.961T>A (p.Leu321Met)
c.*788T>A (n.*788T>A)
8g.43122827T>CCA4736390POMKc.1003T>C (p.Leu335=)
c.*799T>C (n.*799T>C)
c.721T>C (p.Leu241=)
c.*923T>C (n.*923T>C)
c.961T>C (p.Leu321=)
c.*788T>C (n.*788T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122827T>GCA371123197POMKc.1003T>G (p.Leu335Val)
c.*799T>G (n.*799T>G)
c.721T>G (p.Leu241Val)
c.*923T>G (n.*923T>G)
c.961T>G (p.Leu321Val)
c.*788T>G (n.*788T>G)
8g.43122827T=CA1779748266POMKc.1003T= (p.Leu335=)
c.*799T= (n.*799T=)
c.721T= (p.Leu241=)
c.*923T= (n.*923T=)
c.961T= (p.Leu321=)
c.*788T= (n.*788T=)
8g.43122827_43122828insCCTACCAGAAGCA2573143106POMKc.1003_1004insCCTACCAGAAG (p.Leu335SerfsTer12)
c.*799_*800insCCTACCAGAAG (n.*799_*800insCCTACCAGAAG)
c.721_722insCCTACCAGAAG (p.Leu241SerfsTer12)
c.*923_*924insCCTACCAGAAG (n.*923_*924insCCTACCAGAAG)
c.961_962insCCTACCAGAAG (p.Leu321SerfsTer12)
c.*788_*789insCCTACCAGAAG (n.*788_*789insCCTACCAGAAG)
dbSNP
8g.43122828T>ACA371123203POMKc.1004T>A (p.Leu335Ter)
c.*800T>A (n.*800T>A)
c.722T>A (p.Leu241Ter)
c.*924T>A (n.*924T>A)
c.962T>A (p.Leu321Ter)
c.*789T>A (n.*789T>A)
8g.43122828T>CCA371123200POMKc.1004T>C (p.Leu335Ser)
c.*800T>C (n.*800T>C)
c.722T>C (p.Leu241Ser)
c.*924T>C (n.*924T>C)
c.962T>C (p.Leu321Ser)
c.*789T>C (n.*789T>C)
8g.43122828T>GCA371123201POMKc.1004T>G (p.Leu335Trp)
c.*800T>G (n.*800T>G)
c.722T>G (p.Leu241Trp)
c.*924T>G (n.*924T>G)
c.962T>G (p.Leu321Trp)
c.*789T>G (n.*789T>G)
8g.43122829G>ACA460787599POMKc.1005G>A (p.Leu335=)
c.*801G>A (n.*801G>A)
c.723G>A (p.Leu241=)
c.*925G>A (n.*925G>A)
c.963G>A (p.Leu321=)
c.*790G>A (n.*790G>A)
8g.43122829G>CCA371123205POMKc.1005G>C (p.Leu335Phe)
c.*801G>C (n.*801G>C)
c.723G>C (p.Leu241Phe)
c.*925G>C (n.*925G>C)
c.963G>C (p.Leu321Phe)
c.*790G>C (n.*790G>C)
8g.43122829G>TCA371123207POMKc.1005G>T (p.Leu335Phe)
c.*801G>T (n.*801G>T)
c.723G>T (p.Leu241Phe)
c.*925G>T (n.*925G>T)
c.963G>T (p.Leu321Phe)
c.*790G>T (n.*790G>T)
8g.43122830G>ACA4736391POMKc.1006G>A (p.Asp336Asn)
c.*802G>A (n.*802G>A)
c.724G>A (p.Asp242Asn)
c.*926G>A (n.*926G>A)
c.964G>A (p.Asp322Asn)
c.*791G>A (n.*791G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122830G>CCA371123211POMKc.1006G>C (p.Asp336His)
c.*802G>C (n.*802G>C)
c.724G>C (p.Asp242His)
c.*926G>C (n.*926G>C)
c.964G>C (p.Asp322His)
c.*791G>C (n.*791G>C)
8g.43122830G=CA1779748274POMKc.1006G= (p.Asp336=)
c.*802G= (n.*802G=)
c.724G= (p.Asp242=)
c.*926G= (n.*926G=)
c.964G= (p.Asp322=)
c.*791G= (n.*791G=)
8g.43122830G>TCA371123212POMKc.1006G>T (p.Asp336Tyr)
c.*802G>T (n.*802G>T)
c.724G>T (p.Asp242Tyr)
c.*926G>T (n.*926G>T)
c.964G>T (p.Asp322Tyr)
c.*791G>T (n.*791G>T)
8g.43122831A>CCA371123216POMKc.1007A>C (p.Asp336Ala)
c.*803A>C (n.*803A>C)
c.725A>C (p.Asp242Ala)
c.*927A>C (n.*927A>C)
c.965A>C (p.Asp322Ala)
c.*792A>C (n.*792A>C)
8g.43122831A>GCA371123219POMKc.1007A>G (p.Asp336Gly)
c.*803A>G (n.*803A>G)
c.725A>G (p.Asp242Gly)
c.*927A>G (n.*927A>G)
c.965A>G (p.Asp322Gly)
c.*792A>G (n.*792A>G)
8g.43122831A>TCA371123217POMKc.1007A>T (p.Asp336Val)
c.*803A>T (n.*803A>T)
c.725A>T (p.Asp242Val)
c.*927A>T (n.*927A>T)
c.965A>T (p.Asp322Val)
c.*792A>T (n.*792A>T)
gnomAD v4
8g.43122832T>ACA371123222POMKc.1008T>A (p.Asp336Glu)
c.*804T>A (n.*804T>A)
c.726T>A (p.Asp242Glu)
c.*928T>A (n.*928T>A)
c.966T>A (p.Asp322Glu)
c.*793T>A (n.*793T>A)
8g.43122832T>CCA460787603POMKc.1008T>C (p.Asp336=)
c.*804T>C (n.*804T>C)
c.726T>C (p.Asp242=)
c.*928T>C (n.*928T>C)
c.966T>C (p.Asp322=)
c.*793T>C (n.*793T>C)
8g.43122832T>GCA371123223POMKc.1008T>G (p.Asp336Glu)
c.*804T>G (n.*804T>G)
c.726T>G (p.Asp242Glu)
c.*928T>G (n.*928T>G)
c.966T>G (p.Asp322Glu)
c.*793T>G (n.*793T>G)
8g.43122833A>CCA371123226POMKc.1009A>C (p.Thr337Pro)
c.*805A>C (n.*805A>C)
c.727A>C (p.Thr243Pro)
c.*929A>C (n.*929A>C)
c.967A>C (p.Thr323Pro)
c.*794A>C (n.*794A>C)
8g.43122833A>GCA371123227POMKc.1009A>G (p.Thr337Ala)
c.*805A>G (n.*805A>G)
c.727A>G (p.Thr243Ala)
c.*929A>G (n.*929A>G)
c.967A>G (p.Thr323Ala)
c.*794A>G (n.*794A>G)
gnomAD v4
8g.43122833A>TCA371123230POMKc.1009A>T (p.Thr337Ser)
c.*805A>T (n.*805A>T)
c.727A>T (p.Thr243Ser)
c.*929A>T (n.*929A>T)
c.967A>T (p.Thr323Ser)
c.*794A>T (n.*794A>T)
8g.43122834C>ACA4736392POMKc.1010C>A (p.Thr337Lys)
c.*806C>A (n.*806C>A)
c.728C>A (p.Thr243Lys)
c.*930C>A (n.*930C>A)
c.968C>A (p.Thr323Lys)
c.*795C>A (n.*795C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122834C=CA1779748277POMKc.1010C= (p.Thr337=)
c.*806C= (n.*806C=)
c.728C= (p.Thr243=)
c.*930C= (n.*930C=)
c.968C= (p.Thr323=)
c.*795C= (n.*795C=)
8g.43122834C>GCA371123233POMKc.1010C>G (p.Thr337Arg)
c.*806C>G (n.*806C>G)
c.728C>G (p.Thr243Arg)
c.*930C>G (n.*930C>G)
c.968C>G (p.Thr323Arg)
c.*795C>G (n.*795C>G)
8g.43122834C>TCA371123235POMKc.1010C>T (p.Thr337Ile)
c.*806C>T (n.*806C>T)
c.728C>T (p.Thr243Ile)
c.*930C>T (n.*930C>T)
c.968C>T (p.Thr323Ile)
c.*795C>T (n.*795C>T)
gnomAD v4
8g.43122835A=CA1779748279POMKc.1011A= (p.Thr337=)
c.*807A= (n.*807A=)
c.729A= (p.Thr243=)
c.*931A= (n.*931A=)
c.969A= (p.Thr323=)
c.*796A= (n.*796A=)
8g.43122835A>CCA460787605POMKc.1011A>C (p.Thr337=)
c.*807A>C (n.*807A>C)
c.729A>C (p.Thr243=)
c.*931A>C (n.*931A>C)
c.969A>C (p.Thr323=)
c.*796A>C (n.*796A>C)
dbSNP gnomAD v4
8g.43122835A>GCA460787606POMKc.1011A>G (p.Thr337=)
c.*807A>G (n.*807A>G)
c.729A>G (p.Thr243=)
c.*931A>G (n.*931A>G)
c.969A>G (p.Thr323=)
c.*796A>G (n.*796A>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.43122835A>TCA460787607POMKc.1011A>T (p.Thr337=)
c.*807A>T (n.*807A>T)
c.729A>T (p.Thr243=)
c.*931A>T (n.*931A>T)
c.969A>T (p.Thr323=)
c.*796A>T (n.*796A>T)
8g.43122836C>ACA371123238POMKc.1012C>A (p.Leu338Ile)
c.*808C>A (n.*808C>A)
c.730C>A (p.Leu244Ile)
c.*932C>A (n.*932C>A)
c.970C>A (p.Leu324Ile)
c.*797C>A (n.*797C>A)
8g.43122836C=CA1779748283POMKc.1012C= (p.Leu338=)
c.*808C= (n.*808C=)
c.730C= (p.Leu244=)
c.*932C= (n.*932C=)
c.970C= (p.Leu324=)
c.*797C= (n.*797C=)
8g.43122836C>GCA371123240POMKc.1012C>G (p.Leu338Val)
c.*808C>G (n.*808C>G)
c.730C>G (p.Leu244Val)
c.*932C>G (n.*932C>G)
c.970C>G (p.Leu324Val)
c.*797C>G (n.*797C>G)
8g.43122836C>TCA371123241POMKc.1012C>T (p.Leu338Phe)
c.*808C>T (n.*808C>T)
c.730C>T (p.Leu244Phe)
c.*932C>T (n.*932C>T)
c.970C>T (p.Leu324Phe)
c.*797C>T (n.*797C>T)
gnomAD v4
8g.43122837T>ACA371123246POMKc.1013T>A (p.Leu338His)
c.*809T>A (n.*809T>A)
c.731T>A (p.Leu244His)
c.*933T>A (n.*933T>A)
c.971T>A (p.Leu324His)
c.*798T>A (n.*798T>A)
8g.43122837T>CCA371123250POMKc.1013T>C (p.Leu338Pro)
c.*809T>C (n.*809T>C)
c.731T>C (p.Leu244Pro)
c.*933T>C (n.*933T>C)
c.971T>C (p.Leu324Pro)
c.*798T>C (n.*798T>C)
8g.43122837T>GCA4736394POMKc.1013T>G (p.Leu338Arg)
c.*809T>G (n.*809T>G)
c.731T>G (p.Leu244Arg)
c.*933T>G (n.*933T>G)
c.971T>G (p.Leu324Arg)
c.*798T>G (n.*798T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122837T=CA1779748289POMKc.1013T= (p.Leu338=)
c.*809T= (n.*809T=)
c.731T= (p.Leu244=)
c.*933T= (n.*933T=)
c.971T= (p.Leu324=)
c.*798T= (n.*798T=)
8g.43122838dupCA4736393POMKc.1014dup (p.Arg339Ter)
c.*810dup (n.*810dup)
c.732dup (p.Arg245Ter)
c.*934dup (n.*934dup)
c.972dup (p.Arg325Ter)
c.*799dup (n.*799dup)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122838T>ACA460787608POMKc.1014T>A (p.Leu338=)
c.*810T>A (n.*810T>A)
c.732T>A (p.Leu244=)
c.*934T>A (n.*934T>A)
c.972T>A (p.Leu324=)
c.*799T>A (n.*799T>A)
8g.43122838T>CCA460787609POMKc.1014T>C (p.Leu338=)
c.*810T>C (n.*810T>C)
c.732T>C (p.Leu244=)
c.*934T>C (n.*934T>C)
c.972T>C (p.Leu324=)
c.*799T>C (n.*799T>C)
8g.43122838T>GCA460787610POMKc.1014T>G (p.Leu338=)
c.*810T>G (n.*810T>G)
c.732T>G (p.Leu244=)
c.*934T>G (n.*934T>G)
c.972T>G (p.Leu324=)
c.*799T>G (n.*799T>G)
8g.43122839A>CCA460787611POMKc.1015A>C (p.Arg339=)
c.*811A>C (n.*811A>C)
c.733A>C (p.Arg245=)
c.*935A>C (n.*935A>C)
c.973A>C (p.Arg325=)
c.*800A>C (n.*800A>C)
8g.43122839A>GCA371123254POMKc.1015A>G (p.Arg339Gly)
c.*811A>G (n.*811A>G)
c.733A>G (p.Arg245Gly)
c.*935A>G (n.*935A>G)
c.973A>G (p.Arg325Gly)
c.*800A>G (n.*800A>G)
8g.43122839A>TCA371123252POMKc.1015A>T (p.Arg339Ter)
c.*811A>T (n.*811A>T)
c.733A>T (p.Arg245Ter)
c.*935A>T (n.*935A>T)
c.973A>T (p.Arg325Ter)
c.*800A>T (n.*800A>T)
8g.43122840G>ACA371123259POMKc.1016G>A (p.Arg339Lys)
c.*812G>A (n.*812G>A)
c.734G>A (p.Arg245Lys)
c.*936G>A (n.*936G>A)
c.974G>A (p.Arg325Lys)
c.*801G>A (n.*801G>A)
COSMIC COSMIC
8g.43122840G>CCA371123257POMKc.1016G>C (p.Arg339Thr)
c.*812G>C (n.*812G>C)
c.734G>C (p.Arg245Thr)
c.*936G>C (n.*936G>C)
c.974G>C (p.Arg325Thr)
c.*801G>C (n.*801G>C)
8g.43122840G>TCA371123261POMKc.1016G>T (p.Arg339Ile)
c.*812G>T (n.*812G>T)
c.734G>T (p.Arg245Ile)
c.*936G>T (n.*936G>T)
c.974G>T (p.Arg325Ile)
c.*801G>T (n.*801G>T)
8g.43122841A>CCA371123263POMKc.1017A>C (p.Arg339Ser)
c.*813A>C (n.*813A>C)
c.735A>C (p.Arg245Ser)
c.*937A>C (n.*937A>C)
c.975A>C (p.Arg325Ser)
c.*802A>C (n.*802A>C)
8g.43122841A>GCA460787614POMKc.1017A>G (p.Arg339=)
c.*813A>G (n.*813A>G)
c.735A>G (p.Arg245=)
c.*937A>G (n.*937A>G)
c.975A>G (p.Arg325=)
c.*802A>G (n.*802A>G)
8g.43122841A>TCA371123264POMKc.1017A>T (p.Arg339Ser)
c.*813A>T (n.*813A>T)
c.735A>T (p.Arg245Ser)
c.*937A>T (n.*937A>T)
c.975A>T (p.Arg325Ser)
c.*802A>T (n.*802A>T)
8g.43122842G>ACA371123267POMKc.1018G>A (p.Asp340Asn)
c.*814G>A (n.*814G>A)
c.736G>A (p.Asp246Asn)
c.*938G>A (n.*938G>A)
c.976G>A (p.Asp326Asn)
c.*803G>A (n.*803G>A)
8g.43122842G>CCA371123269POMKc.1018G>C (p.Asp340His)
c.*814G>C (n.*814G>C)
c.736G>C (p.Asp246His)
c.*938G>C (n.*938G>C)
c.976G>C (p.Asp326His)
c.*803G>C (n.*803G>C)
8g.43122842G>TCA371123271POMKc.1018G>T (p.Asp340Tyr)
c.*814G>T (n.*814G>T)
c.736G>T (p.Asp246Tyr)
c.*938G>T (n.*938G>T)
c.976G>T (p.Asp326Tyr)
c.*803G>T (n.*803G>T)
8g.43122843A>CCA371123273POMKc.1019A>C (p.Asp340Ala)
c.*815A>C (n.*815A>C)
c.737A>C (p.Asp246Ala)
c.*939A>C (n.*939A>C)
c.977A>C (p.Asp326Ala)
c.*804A>C (n.*804A>C)
8g.43122843A>GCA371123275POMKc.1019A>G (p.Asp340Gly)
c.*815A>G (n.*815A>G)
c.737A>G (p.Asp246Gly)
c.*939A>G (n.*939A>G)
c.977A>G (p.Asp326Gly)
c.*804A>G (n.*804A>G)
8g.43122843A>TCA371123276POMKc.1019A>T (p.Asp340Val)
c.*815A>T (n.*815A>T)
c.737A>T (p.Asp246Val)
c.*939A>T (n.*939A>T)
c.977A>T (p.Asp326Val)
c.*804A>T (n.*804A>T)
8g.43122844T>ACA371123279POMKc.1020T>A (p.Asp340Glu)
c.*816T>A (n.*816T>A)
c.738T>A (p.Asp246Glu)
c.*940T>A (n.*940T>A)
c.978T>A (p.Asp326Glu)
c.*805T>A (n.*805T>A)
8g.43122844T>CCA460787615POMKc.1020T>C (p.Asp340=)
c.*816T>C (n.*816T>C)
c.738T>C (p.Asp246=)
c.*940T>C (n.*940T>C)
c.978T>C (p.Asp326=)
c.*805T>C (n.*805T>C)
8g.43122844T>GCA371123281POMKc.1020T>G (p.Asp340Glu)
c.*816T>G (n.*816T>G)
c.738T>G (p.Asp246Glu)
c.*940T>G (n.*940T>G)
c.978T>G (p.Asp326Glu)
c.*805T>G (n.*805T>G)
dbSNP gnomAD v2 gnomAD v4
8g.43122844T=CA1779748293POMKc.1020T= (p.Asp340=)
c.*816T= (n.*816T=)
c.738T= (p.Asp246=)
c.*940T= (n.*940T=)
c.978T= (p.Asp326=)
c.*805T= (n.*805T=)
8g.43122845G>ACA371123283POMKc.1021G>A (p.Ala341Thr)
c.*817G>A (n.*817G>A)
c.739G>A (p.Ala247Thr)
c.*941G>A (n.*941G>A)
c.979G>A (p.Ala327Thr)
c.*806G>A (n.*806G>A)
8g.43122845G>CCA371123285POMKc.1021G>C (p.Ala341Pro)
c.*817G>C (n.*817G>C)
c.739G>C (p.Ala247Pro)
c.*941G>C (n.*941G>C)
c.979G>C (p.Ala327Pro)
c.*806G>C (n.*806G>C)
8g.43122845G>TCA371123287POMKc.1021G>T (p.Ala341Ser)
c.*817G>T (n.*817G>T)
c.739G>T (p.Ala247Ser)
c.*941G>T (n.*941G>T)
c.979G>T (p.Ala327Ser)
c.*806G>T (n.*806G>T)
gnomAD v4
8g.43122846C>ACA371123290POMKc.1022C>A (p.Ala341Asp)
c.*818C>A (n.*818C>A)
c.740C>A (p.Ala247Asp)
c.*942C>A (n.*942C>A)
c.980C>A (p.Ala327Asp)
c.*807C>A (n.*807C>A)
8g.43122846C>GCA371123293POMKc.1022C>G (p.Ala341Gly)
c.*818C>G (n.*818C>G)
c.740C>G (p.Ala247Gly)
c.*942C>G (n.*942C>G)
c.980C>G (p.Ala327Gly)
c.*807C>G (n.*807C>G)
8g.43122846C>TCA371123292POMKc.1022C>T (p.Ala341Val)
c.*818C>T (n.*818C>T)
c.740C>T (p.Ala247Val)
c.*942C>T (n.*942C>T)
c.980C>T (p.Ala327Val)
c.*807C>T (n.*807C>T)
8g.43122847C>ACA460787617POMKc.1023C>A (p.Ala341=)
c.*819C>A (n.*819C>A)
c.741C>A (p.Ala247=)
c.*943C>A (n.*943C>A)
c.981C>A (p.Ala327=)
c.*808C>A (n.*808C>A)
gnomAD v4
8g.43122847C=CA1779736118POMKc.1023C= (p.Ala341=)
c.*819C= (n.*819C=)
c.741C= (p.Ala247=)
c.*943C= (n.*943C=)
c.981C= (p.Ala327=)
c.*808C= (n.*808C=)
8g.43122847C>GCA460787618POMKc.1023C>G (p.Ala341=)
c.*819C>G (n.*819C>G)
c.741C>G (p.Ala247=)
c.*943C>G (n.*943C>G)
c.981C>G (p.Ala327=)
c.*808C>G (n.*808C>G)
COSMIC COSMIC
8g.43122847C>TCA4736395POMKc.1023C>T (p.Ala341=)
c.*819C>T (n.*819C>T)
c.741C>T (p.Ala247=)
c.*943C>T (n.*943C>T)
c.981C>T (p.Ala327=)
c.*808C>T (n.*808C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122848A=CA1779736136POMKc.1024A= (p.Met342=)
c.*820A= (n.*820A=)
c.742A= (p.Met248=)
c.*944A= (n.*944A=)
c.982A= (p.Met328=)
c.*809A= (n.*809A=)
8g.43122848A>CCA371123298POMKc.1024A>C (p.Met342Leu)
c.*820A>C (n.*820A>C)
c.742A>C (p.Met248Leu)
c.*944A>C (n.*944A>C)
c.982A>C (p.Met328Leu)
c.*809A>C (n.*809A>C)
dbSNP gnomAD v4
8g.43122848A>GCA4736396POMKc.1024A>G (p.Met342Val)
c.*820A>G (n.*820A>G)
c.742A>G (p.Met248Val)
c.*944A>G (n.*944A>G)
c.982A>G (p.Met328Val)
c.*809A>G (n.*809A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122848A>TCA371123301POMKc.1024A>T (p.Met342Leu)
c.*820A>T (n.*820A>T)
c.742A>T (p.Met248Leu)
c.*944A>T (n.*944A>T)
c.982A>T (p.Met328Leu)
c.*809A>T (n.*809A>T)
8g.43122849T>ACA371123304POMKc.1025T>A (p.Met342Lys)
c.*821T>A (n.*821T>A)
c.743T>A (p.Met248Lys)
c.*945T>A (n.*945T>A)
c.983T>A (p.Met328Lys)
c.*810T>A (n.*810T>A)
dbSNP gnomAD v4
8g.43122849T>CCA4736397POMKc.1025T>C (p.Met342Thr)
c.*821T>C (n.*821T>C)
c.743T>C (p.Met248Thr)
c.*945T>C (n.*945T>C)
c.983T>C (p.Met328Thr)
c.*810T>C (n.*810T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122849T>GCA371123307POMKc.1025T>G (p.Met342Arg)
c.*821T>G (n.*821T>G)
c.743T>G (p.Met248Arg)
c.*945T>G (n.*945T>G)
c.983T>G (p.Met328Arg)
c.*810T>G (n.*810T>G)
8g.43122849T=CA1779736143POMKc.1025T= (p.Met342=)
c.*821T= (n.*821T=)
c.743T= (p.Met248=)
c.*945T= (n.*945T=)
c.983T= (p.Met328=)
c.*810T= (n.*810T=)
8g.43122850G>ACA371123309POMKc.1026G>A (p.Met342Ile)
c.*822G>A (n.*822G>A)
c.744G>A (p.Met248Ile)
c.*946G>A (n.*946G>A)
c.984G>A (p.Met328Ile)
c.*811G>A (n.*811G>A)
COSMIC
8g.43122850G>CCA371123311POMKc.1026G>C (p.Met342Ile)
c.*822G>C (n.*822G>C)
c.744G>C (p.Met248Ile)
c.*946G>C (n.*946G>C)
c.984G>C (p.Met328Ile)
c.*811G>C (n.*811G>C)
8g.43122850G>TCA371123313POMKc.1026G>T (p.Met342Ile)
c.*822G>T (n.*822G>T)
c.744G>T (p.Met248Ile)
c.*946G>T (n.*946G>T)
c.984G>T (p.Met328Ile)
c.*811G>T (n.*811G>T)
8g.43122851A>CCA371123317POMKc.1027A>C (p.Met343Leu)
c.*823A>C (n.*823A>C)
c.745A>C (p.Met249Leu)
c.*947A>C (n.*947A>C)
c.985A>C (p.Met329Leu)
c.*812A>C (n.*812A>C)
gnomAD v4
8g.43122851A>GCA371123319POMKc.1027A>G (p.Met343Val)
c.*823A>G (n.*823A>G)
c.745A>G (p.Met249Val)
c.*947A>G (n.*947A>G)
c.985A>G (p.Met329Val)
c.*812A>G (n.*812A>G)
8g.43122851A>TCA371123315POMKc.1027A>T (p.Met343Leu)
c.*823A>T (n.*823A>T)
c.745A>T (p.Met249Leu)
c.*947A>T (n.*947A>T)
c.985A>T (p.Met329Leu)
c.*812A>T (n.*812A>T)
8g.43122852T>ACA371123322POMKc.1028T>A (p.Met343Lys)
c.*824T>A (n.*824T>A)
c.746T>A (p.Met249Lys)
c.*948T>A (n.*948T>A)
c.986T>A (p.Met329Lys)
c.*813T>A (n.*813T>A)
8g.43122852T>CCA371123324POMKc.1028T>C (p.Met343Thr)
c.*824T>C (n.*824T>C)
c.746T>C (p.Met249Thr)
c.*948T>C (n.*948T>C)
c.986T>C (p.Met329Thr)
c.*813T>C (n.*813T>C)
gnomAD v4
8g.43122852T>GCA371123326POMKc.1028T>G (p.Met343Arg)
c.*824T>G (n.*824T>G)
c.746T>G (p.Met249Arg)
c.*948T>G (n.*948T>G)
c.986T>G (p.Met329Arg)
c.*813T>G (n.*813T>G)
8g.43122853G>ACA176080925POMKc.1029G>A (p.Met343Ile)
c.*825G>A (n.*825G>A)
c.747G>A (p.Met249Ile)
c.*949G>A (n.*949G>A)
c.987G>A (p.Met329Ile)
c.*814G>A (n.*814G>A)
dbSNP
8g.43122853G>CCA371123329POMKc.1029G>C (p.Met343Ile)
c.*825G>C (n.*825G>C)
c.747G>C (p.Met249Ile)
c.*949G>C (n.*949G>C)
c.987G>C (p.Met329Ile)
c.*814G>C (n.*814G>C)
8g.43122853G=CA1779736149POMKc.1029G= (p.Met343=)
c.*825G= (n.*825G=)
c.747G= (p.Met249=)
c.*949G= (n.*949G=)
c.987G= (p.Met329=)
c.*814G= (n.*814G=)
8g.43122853G>TCA371123331POMKc.1029G>T (p.Met343Ile)
c.*825G>T (n.*825G>T)
c.747G>T (p.Met249Ile)
c.*949G>T (n.*949G>T)
c.987G>T (p.Met329Ile)
c.*814G>T (n.*814G>T)
8g.43122854T>ACA371123333POMKc.1030T>A (p.Ser344Thr)
c.*826T>A (n.*826T>A)
c.748T>A (p.Ser250Thr)
c.*950T>A (n.*950T>A)
c.988T>A (p.Ser330Thr)
c.*815T>A (n.*815T>A)
8g.43122854T>CCA371123336POMKc.1030T>C (p.Ser344Pro)
c.*826T>C (n.*826T>C)
c.748T>C (p.Ser250Pro)
c.*950T>C (n.*950T>C)
c.988T>C (p.Ser330Pro)
c.*815T>C (n.*815T>C)
8g.43122854T>GCA371123338POMKc.1030T>G (p.Ser344Ala)
c.*826T>G (n.*826T>G)
c.748T>G (p.Ser250Ala)
c.*950T>G (n.*950T>G)
c.988T>G (p.Ser330Ala)
c.*815T>G (n.*815T>G)
8g.43122855C>ACA371123341POMKc.1031C>A (p.Ser344Tyr)
c.*827C>A (n.*827C>A)
c.749C>A (p.Ser250Tyr)
c.*951C>A (n.*951C>A)
c.989C>A (p.Ser330Tyr)
c.*816C>A (n.*816C>A)
gnomAD v4
8g.43122855C>GCA371123343POMKc.1031C>G (p.Ser344Cys)
c.*827C>G (n.*827C>G)
c.749C>G (p.Ser250Cys)
c.*951C>G (n.*951C>G)
c.989C>G (p.Ser330Cys)
c.*816C>G (n.*816C>G)
8g.43122855C>TCA371123344POMKc.1031C>T (p.Ser344Phe)
c.*827C>T (n.*827C>T)
c.749C>T (p.Ser250Phe)
c.*951C>T (n.*951C>T)
c.989C>T (p.Ser330Phe)
c.*816C>T (n.*816C>T)
8g.43122856T>ACA460787622POMKc.1032T>A (p.Ser344=)
c.*828T>A (n.*828T>A)
c.750T>A (p.Ser250=)
c.*952T>A (n.*952T>A)
c.990T>A (p.Ser330=)
c.*817T>A (n.*817T>A)
COSMIC COSMIC
8g.43122856T>CCA460787623POMKc.1032T>C (p.Ser344=)
c.*828T>C (n.*828T>C)
c.750T>C (p.Ser250=)
c.*952T>C (n.*952T>C)
c.990T>C (p.Ser330=)
c.*817T>C (n.*817T>C)
8g.43122856T>GCA460787624POMKc.1032T>G (p.Ser344=)
c.*828T>G (n.*828T>G)
c.750T>G (p.Ser250=)
c.*952T>G (n.*952T>G)
c.990T>G (p.Ser330=)
c.*817T>G (n.*817T>G)
8g.43122857C>ACA371123350POMKc.1033C>A (p.Gln345Lys)
c.*829C>A (n.*829C>A)
c.751C>A (p.Gln251Lys)
c.*953C>A (n.*953C>A)
c.991C>A (p.Gln331Lys)
c.*818C>A (n.*818C>A)
COSMIC COSMIC
8g.43122857C>GCA371123352POMKc.1033C>G (p.Gln345Glu)
c.*829C>G (n.*829C>G)
c.751C>G (p.Gln251Glu)
c.*953C>G (n.*953C>G)
c.991C>G (p.Gln331Glu)
c.*818C>G (n.*818C>G)
8g.43122857C>TCA371123347POMKc.1033C>T (p.Gln345Ter)
c.*829C>T (n.*829C>T)
c.751C>T (p.Gln251Ter)
c.*953C>T (n.*953C>T)
c.991C>T (p.Gln331Ter)
c.*818C>T (n.*818C>T)
8g.43122858A>CCA371123354POMKc.1034A>C (p.Gln345Pro)
c.*830A>C (n.*830A>C)
c.752A>C (p.Gln251Pro)
c.*954A>C (n.*954A>C)
c.992A>C (p.Gln331Pro)
c.*819A>C (n.*819A>C)
8g.43122858A>GCA371123356POMKc.1034A>G (p.Gln345Arg)
c.*830A>G (n.*830A>G)
c.752A>G (p.Gln251Arg)
c.*954A>G (n.*954A>G)
c.992A>G (p.Gln331Arg)
c.*819A>G (n.*819A>G)
8g.43122858A>TCA371123358POMKc.1034A>T (p.Gln345Leu)
c.*830A>T (n.*830A>T)
c.752A>T (p.Gln251Leu)
c.*954A>T (n.*954A>T)
c.992A>T (p.Gln331Leu)
c.*819A>T (n.*819A>T)
8g.43122859G>ACA460787625POMKc.1035G>A (p.Gln345=)
c.*831G>A (n.*831G>A)
c.753G>A (p.Gln251=)
c.*955G>A (n.*955G>A)
c.993G>A (p.Gln331=)
c.*820G>A (n.*820G>A)
8g.43122859G>CCA371123361POMKc.1035G>C (p.Gln345His)
c.*831G>C (n.*831G>C)
c.753G>C (p.Gln251His)
c.*955G>C (n.*955G>C)
c.993G>C (p.Gln331His)
c.*820G>C (n.*820G>C)
8g.43122859G>TCA371123362POMKc.1035G>T (p.Gln345His)
c.*831G>T (n.*831G>T)
c.753G>T (p.Gln251His)
c.*955G>T (n.*955G>T)
c.993G>T (p.Gln331His)
c.*820G>T (n.*820G>T)
8g.43122860G>ACA371123368POMKc.1036G>A (p.Ala346Thr)
c.*832G>A (n.*832G>A)
c.754G>A (p.Ala252Thr)
c.*956G>A (n.*956G>A)
c.994G>A (p.Ala332Thr)
c.*821G>A (n.*821G>A)
dbSNP gnomAD v2 gnomAD v4
8g.43122860G>CCA371123365POMKc.1036G>C (p.Ala346Pro)
c.*832G>C (n.*832G>C)
c.754G>C (p.Ala252Pro)
c.*956G>C (n.*956G>C)
c.994G>C (p.Ala332Pro)
c.*821G>C (n.*821G>C)
8g.43122860G=CA1779736154POMKc.1036G= (p.Ala346=)
c.*832G= (n.*832G=)
c.754G= (p.Ala252=)
c.*956G= (n.*956G=)
c.994G= (p.Ala332=)
c.*821G= (n.*821G=)
8g.43122860G>TCA371123367POMKc.1036G>T (p.Ala346Ser)
c.*832G>T (n.*832G>T)
c.754G>T (p.Ala252Ser)
c.*956G>T (n.*956G>T)
c.994G>T (p.Ala332Ser)
c.*821G>T (n.*821G>T)
8g.43122861C>ACA371123372POMKc.1037C>A (p.Ala346Glu)
c.*833C>A (n.*833C>A)
c.755C>A (p.Ala252Glu)
c.*957C>A (n.*957C>A)
c.995C>A (p.Ala332Glu)
c.*822C>A (n.*822C>A)
dbSNP gnomAD v4
8g.43122861C=CA1779736159POMKc.1037C= (p.Ala346=)
c.*833C= (n.*833C=)
c.755C= (p.Ala252=)
c.*957C= (n.*957C=)
c.995C= (p.Ala332=)
c.*822C= (n.*822C=)
8g.43122861C>GCA371123373POMKc.1037C>G (p.Ala346Gly)
c.*833C>G (n.*833C>G)
c.755C>G (p.Ala252Gly)
c.*957C>G (n.*957C>G)
c.995C>G (p.Ala332Gly)
c.*822C>G (n.*822C>G)
8g.43122861C>TCA371123375POMKc.1037C>T (p.Ala346Val)
c.*833C>T (n.*833C>T)
c.755C>T (p.Ala252Val)
c.*957C>T (n.*957C>T)
c.995C>T (p.Ala332Val)
c.*822C>T (n.*822C>T)
dbSNP gnomAD v3 gnomAD v4
8g.43122862A>CCA460787627POMKc.1038A>C (p.Ala346=)
c.*834A>C (n.*834A>C)
c.756A>C (p.Ala252=)
c.*958A>C (n.*958A>C)
c.996A>C (p.Ala332=)
c.*823A>C (n.*823A>C)
8g.43122862A>GCA460787628POMKc.1038A>G (p.Ala346=)
c.*834A>G (n.*834A>G)
c.756A>G (p.Ala252=)
c.*958A>G (n.*958A>G)
c.996A>G (p.Ala332=)
c.*823A>G (n.*823A>G)
8g.43122862A>TCA460787629POMKc.1038A>T (p.Ala346=)
c.*834A>T (n.*834A>T)
c.756A>T (p.Ala252=)
c.*958A>T (n.*958A>T)
c.996A>T (p.Ala332=)
c.*823A>T (n.*823A>T)
8g.43122863A=CA1779736163POMKc.1039A= (p.Arg347=)
c.*835A= (n.*835A=)
c.757A= (p.Arg253=)
c.*959A= (n.*959A=)
c.997A= (p.Arg333=)
c.*824A= (n.*824A=)
8g.43122863A>CCA460787631POMKc.1039A>C (p.Arg347=)
c.*835A>C (n.*835A>C)
c.757A>C (p.Arg253=)
c.*959A>C (n.*959A>C)
c.997A>C (p.Arg333=)
c.*824A>C (n.*824A>C)
8g.43122863A>GCA371123377POMKc.1039A>G (p.Arg347Gly)
c.*835A>G (n.*835A>G)
c.757A>G (p.Arg253Gly)
c.*959A>G (n.*959A>G)
c.997A>G (p.Arg333Gly)
c.*824A>G (n.*824A>G)
dbSNP
8g.43122863A>TCA371123378POMKc.1039A>T (p.Arg347Ter)
c.*835A>T (n.*835A>T)
c.757A>T (p.Arg253Ter)
c.*959A>T (n.*959A>T)
c.997A>T (p.Arg333Ter)
c.*824A>T (n.*824A>T)
8g.43122864G>ACA371123386POMKc.1040G>A (p.Arg347Lys)
c.*836G>A (n.*836G>A)
c.758G>A (p.Arg253Lys)
c.*960G>A (n.*960G>A)
c.998G>A (p.Arg333Lys)
c.*825G>A (n.*825G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43122864G>CCA371123384POMKc.1040G>C (p.Arg347Thr)
c.*836G>C (n.*836G>C)
c.758G>C (p.Arg253Thr)
c.*960G>C (n.*960G>C)
c.998G>C (p.Arg333Thr)
c.*825G>C (n.*825G>C)
8g.43122864G=CA1779736165POMKc.1040G= (p.Arg347=)
c.*836G= (n.*836G=)
c.758G= (p.Arg253=)
c.*960G= (n.*960G=)
c.998G= (p.Arg333=)
c.*825G= (n.*825G=)
8g.43122864G>TCA371123382POMKc.1040G>T (p.Arg347Ile)
c.*836G>T (n.*836G>T)
c.758G>T (p.Arg253Ile)
c.*960G>T (n.*960G>T)
c.998G>T (p.Arg333Ile)
c.*825G>T (n.*825G>T)
8g.43122865A>CCA371123389POMKc.1041A>C (p.Arg347Ser)
c.*837A>C (n.*837A>C)
c.759A>C (p.Arg253Ser)
c.*961A>C (n.*961A>C)
c.999A>C (p.Arg333Ser)
c.*826A>C (n.*826A>C)
8g.43122865A>GCA460787632POMKc.1041A>G (p.Arg347=)
c.*837A>G (n.*837A>G)
c.759A>G (p.Arg253=)
c.*961A>G (n.*961A>G)
c.999A>G (p.Arg333=)
c.*826A>G (n.*826A>G)
gnomAD v4
8g.43122865A>TCA371123391POMKc.1041A>T (p.Arg347Ser)
c.*837A>T (n.*837A>T)
c.759A>T (p.Arg253Ser)
c.*961A>T (n.*961A>T)
c.999A>T (p.Arg333Ser)
c.*826A>T (n.*826A>T)
8g.43122866G>ACA371123394POMKc.1042G>A (p.Glu348Lys)
c.*838G>A (n.*838G>A)
c.760G>A (p.Glu254Lys)
c.*962G>A (n.*962G>A)
c.1000G>A (p.Glu334Lys)
c.*827G>A (n.*827G>A)
8g.43122866G>CCA371123396POMKc.1042G>C (p.Glu348Gln)
c.*838G>C (n.*838G>C)
c.760G>C (p.Glu254Gln)
c.*962G>C (n.*962G>C)
c.1000G>C (p.Glu334Gln)
c.*827G>C (n.*827G>C)
8g.43122866G>TCA371123398POMKc.1042G>T (p.Glu348Ter)
c.*838G>T (n.*838G>T)
c.760G>T (p.Glu254Ter)
c.*962G>T (n.*962G>T)
c.1000G>T (p.Glu334Ter)
c.*827G>T (n.*827G>T)

Number of alleles fetched