Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.56004316_56004318delinsCTGCA2038197818SUOXc.927_929delinsCTG (p.Leu309=)
c.*115_*117delinsCTG (n.*115_*117delinsCTG)
c.948_950delinsCTG (p.Leu316=)
12g.56004317T>ACA385289510SUOXc.928T>A (p.Cys310Ser)
c.*116T>A (n.*116T>A)
c.949T>A (p.Cys317Ser)
12g.56004317T>CCA385289511SUOXc.928T>C (p.Cys310Arg)
c.*116T>C (n.*116T>C)
c.949T>C (p.Cys317Arg)
 gnomAD v4
12g.56004317T>GCA385289518SUOXc.928T>G (p.Cys310Gly)
c.*116T>G (n.*116T>G)
c.949T>G (p.Cys317Gly)
12g.56004319_56004320delCA237605230SUOXc.930_931del (p.Cys310Ter)
c.*118_*119del (n.*118_*119del)
c.951_952del (p.Cys317Ter)
 dbSNP gnomAD v2 gnomAD v4
12g.56004318G>ACA385289542SUOXc.929G>A (p.Cys310Tyr)
c.*117G>A (n.*117G>A)
c.950G>A (p.Cys317Tyr)
 dbSNP
12g.56004318G>CCA237605231SUOXc.929G>C (p.Cys310Ser)
c.*117G>C (n.*117G>C)
c.950G>C (p.Cys317Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.56004318G=CA2038197820SUOXc.929G= (p.Cys310=)
c.*117G= (n.*117G=)
c.950G= (p.Cys317=)
12g.56004318G>TCA385289533SUOXc.929G>T (p.Cys310Phe)
c.*117G>T (n.*117G>T)
c.950G>T (p.Cys317Phe)
12g.56004319T>ACA385289544SUOXc.930T>A (p.Cys310Ter)
c.*118T>A (n.*118T>A)
c.951T>A (p.Cys317Ter)
12g.56004319T>CCA480366499SUOXc.930T>C (p.Cys310=)
c.*118T>C (n.*118T>C)
c.951T>C (p.Cys317=)
12g.56004319T>GCA385289546SUOXc.930T>G (p.Cys310Trp)
c.*118T>G (n.*118T>G)
c.951T>G (p.Cys317Trp)
12g.56004320G>ACA6621065SUOXc.931G>A (p.Glu311Lys)
c.*119G>A (n.*119G>A)
c.952G>A (p.Glu318Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004320G>CCA385289554SUOXc.931G>C (p.Glu311Gln)
c.*119G>C (n.*119G>C)
c.952G>C (p.Glu318Gln)
12g.56004320G=CA2038197821SUOXc.931G= (p.Glu311=)
c.*119G= (n.*119G=)
c.952G= (p.Glu318=)
12g.56004320G>TCA385289559SUOXc.931G>T (p.Glu311Ter)
c.*119G>T (n.*119G>T)
c.952G>T (p.Glu318Ter)
12g.56004321A>CCA385289560SUOXc.932A>C (p.Glu311Ala)
c.*120A>C (n.*120A>C)
c.953A>C (p.Glu318Ala)
12g.56004321A>GCA385289561SUOXc.932A>G (p.Glu311Gly)
c.*120A>G (n.*120A>G)
c.953A>G (p.Glu318Gly)
12g.56004321A>TCA385289562SUOXc.932A>T (p.Glu311Val)
c.*120A>T (n.*120A>T)
c.953A>T (p.Glu318Val)
12g.56004322A>CCA385289564SUOXc.933A>C (p.Glu311Asp)
c.*121A>C (n.*121A>C)
c.954A>C (p.Glu318Asp)
12g.56004322A>GCA480366505SUOXc.933A>G (p.Glu311=)
c.*121A>G (n.*121A>G)
c.954A>G (p.Glu318=)
12g.56004322A>TCA385289565SUOXc.933A>T (p.Glu311Asp)
c.*121A>T (n.*121A>T)
c.954A>T (p.Glu318Asp)
12g.56004323A>CCA385289571SUOXc.934A>C (p.Thr312Pro)
c.*122A>C (n.*122A>C)
c.955A>C (p.Thr319Pro)
12g.56004323A>GCA385289582SUOXc.934A>G (p.Thr312Ala)
c.*122A>G (n.*122A>G)
c.955A>G (p.Thr319Ala)
12g.56004323A>TCA385289589SUOXc.934A>T (p.Thr312Ser)
c.*122A>T (n.*122A>T)
c.955A>T (p.Thr319Ser)
12g.56004324C>ACA385289596SUOXc.935C>A (p.Thr312Asn)
c.*123C>A (n.*123C>A)
c.956C>A (p.Thr319Asn)
12g.56004324C=CA2038197823SUOXc.935C= (p.Thr312=)
c.*123C= (n.*123C=)
c.956C= (p.Thr319=)
12g.56004324C>GCA385289599SUOXc.935C>G (p.Thr312Ser)
c.*123C>G (n.*123C>G)
c.956C>G (p.Thr319Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004324C>TCA385289597SUOXc.935C>T (p.Thr312Ile)
c.*123C>T (n.*123C>T)
c.956C>T (p.Thr319Ile)
 gnomAD v4
12g.56004324_56004326delinsCTGCA2038197822SUOXc.935_937delinsCTG (p.Thr312=)
c.*123_*125delinsCTG (n.*123_*125delinsCTG)
c.956_958delinsCTG (p.Thr319=)
12g.56004325T>ACA480366514SUOXc.936T>A (p.Thr312=)
c.*124T>A (n.*124T>A)
c.957T>A (p.Thr319=)
12g.56004325T>CCA480366513SUOXc.936T>C (p.Thr312=)
c.*124T>C (n.*124T>C)
c.957T>C (p.Thr319=)
12g.56004325T>GCA480366511SUOXc.936T>G (p.Thr312=)
c.*124T>G (n.*124T>G)
c.957T>G (p.Thr319=)
12g.56004325_56004326delCA919094429SUOXc.936_937del (p.Glu313GlyfsTer6)
c.*124_*125del (n.*124_*125del)
c.957_958del (p.Glu320GlyfsTer6)
 dbSNP gnomAD v4
12g.56004326G>ACA385289604SUOXc.937G>A (p.Glu313Lys)
c.*125G>A (n.*125G>A)
c.958G>A (p.Glu320Lys)
12g.56004326G>CCA385289611SUOXc.937G>C (p.Glu313Gln)
c.*125G>C (n.*125G>C)
c.958G>C (p.Glu320Gln)
 gnomAD v4
12g.56004326G>TCA385289614SUOXc.937G>T (p.Glu313Ter)
c.*125G>T (n.*125G>T)
c.958G>T (p.Glu320Ter)
 gnomAD v4
12g.56004327A>CCA385289616SUOXc.938A>C (p.Glu313Ala)
c.*126A>C (n.*126A>C)
c.959A>C (p.Glu320Ala)
12g.56004327A>GCA385289621SUOXc.938A>G (p.Glu313Gly)
c.*126A>G (n.*126A>G)
c.959A>G (p.Glu320Gly)
12g.56004327A>TCA385289627SUOXc.938A>T (p.Glu313Val)
c.*126A>T (n.*126A>T)
c.959A>T (p.Glu320Val)
12g.56004328G>ACA480366517SUOXc.939G>A (p.Glu313=)
c.*127G>A (n.*127G>A)
c.960G>A (p.Glu320=)
 gnomAD v4
12g.56004328G>CCA385289633SUOXc.939G>C (p.Glu313Asp)
c.*127G>C (n.*127G>C)
c.960G>C (p.Glu320Asp)
 gnomAD v4
12g.56004328G>TCA385289642SUOXc.939G>T (p.Glu313Asp)
c.*127G>T (n.*127G>T)
c.960G>T (p.Glu320Asp)
12g.56004329G>ACA385289650SUOXc.940G>A (p.Ala314Thr)
c.*128G>A (n.*128G>A)
c.961G>A (p.Ala321Thr)
12g.56004329G>CCA385289654SUOXc.940G>C (p.Ala314Pro)
c.*128G>C (n.*128G>C)
c.961G>C (p.Ala321Pro)
12g.56004329G>TCA385289659SUOXc.940G>T (p.Ala314Ser)
c.*128G>T (n.*128G>T)
c.961G>T (p.Ala321Ser)
 COSMIC
12g.56004330C>ACA385289702SUOXc.941C>A (p.Ala314Asp)
c.*129C>A (n.*129C>A)
c.962C>A (p.Ala321Asp)
12g.56004330C=CA2038197824SUOXc.941C= (p.Ala314=)
c.*129C= (n.*129C=)
c.962C= (p.Ala321=)
12g.56004330C>GCA385289675SUOXc.941C>G (p.Ala314Gly)
c.*129C>G (n.*129C>G)
c.962C>G (p.Ala321Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.56004330C>TCA385289669SUOXc.941C>T (p.Ala314Val)
c.*129C>T (n.*129C>T)
c.962C>T (p.Ala321Val)
12g.56004331C>ACA480366520SUOXc.942C>A (p.Ala314=)
c.*130C>A (n.*130C>A)
c.963C>A (p.Ala321=)
12g.56004331C>GCA480366521SUOXc.942C>G (p.Ala314=)
c.*130C>G (n.*130C>G)
c.963C>G (p.Ala321=)
12g.56004331C>TCA480366522SUOXc.942C>T (p.Ala314=)
c.*130C>T (n.*130C>T)
c.963C>T (p.Ala321=)
12g.56004332C>ACA385289718SUOXc.943C>A (p.His315Asn)
c.*131C>A (n.*131C>A)
c.964C>A (p.His322Asn)
 gnomAD v4
12g.56004332C>GCA385289710SUOXc.943C>G (p.His315Asp)
c.*131C>G (n.*131C>G)
c.964C>G (p.His322Asp)
12g.56004332C>TCA385289715SUOXc.943C>T (p.His315Tyr)
c.*131C>T (n.*131C>T)
c.964C>T (p.His322Tyr)
12g.56004333A=CA2038197825SUOXc.944A= (p.His315=)
c.*132A= (n.*132A=)
c.965A= (p.His322=)
12g.56004333A>CCA6621066SUOXc.944A>C (p.His315Pro)
c.*132A>C (n.*132A>C)
c.965A>C (p.His322Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004333A>GCA385289724SUOXc.944A>G (p.His315Arg)
c.*132A>G (n.*132A>G)
c.965A>G (p.His322Arg)
12g.56004333A>TCA385289730SUOXc.944A>T (p.His315Leu)
c.*132A>T (n.*132A>T)
c.965A>T (p.His322Leu)
12g.56004334C>ACA385289740SUOXc.945C>A (p.His315Gln)
c.*133C>A (n.*133C>A)
c.966C>A (p.His322Gln)
12g.56004334C=CA2038197826SUOXc.945C= (p.His315=)
c.*133C= (n.*133C=)
c.966C= (p.His322=)
12g.56004334C>GCA385289739SUOXc.945C>G (p.His315Gln)
c.*133C>G (n.*133C>G)
c.966C>G (p.His322Gln)
 dbSNP gnomAD v4
12g.56004334C>TCA6621067SUOXc.945C>T (p.His315=)
c.*133C>T (n.*133C>T)
c.966C>T (p.His322=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.56004335G>ACA6621068SUOXc.946G>A (p.Val316Ile)
c.*134G>A (n.*134G>A)
c.967G>A (p.Val323Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.56004335G>CCA385289753SUOXc.946G>C (p.Val316Leu)
c.*134G>C (n.*134G>C)
c.967G>C (p.Val323Leu)
12g.56004335G=CA2038197827SUOXc.946G= (p.Val316=)
c.*134G= (n.*134G=)
c.967G= (p.Val323=)
12g.56004335G>TCA385289770SUOXc.946G>T (p.Val316Phe)
c.*134G>T (n.*134G>T)
c.967G>T (p.Val323Phe)
12g.56004336T>ACA385289774SUOXc.947T>A (p.Val316Asp)
c.*135T>A (n.*135T>A)
c.968T>A (p.Val323Asp)
12g.56004336T>CCA385289775SUOXc.947T>C (p.Val316Ala)
c.*135T>C (n.*135T>C)
c.968T>C (p.Val323Ala)
12g.56004336T>GCA385289776SUOXc.947T>G (p.Val316Gly)
c.*135T>G (n.*135T>G)
c.968T>G (p.Val323Gly)
12g.56004337C>ACA480366158SUOXc.948C>A (p.Val316=)
c.*136C>A (n.*136C>A)
c.969C>A (p.Val323=)
12g.56004337C=CA2038197828SUOXc.948C= (p.Val316=)
c.*136C= (n.*136C=)
c.969C= (p.Val323=)
12g.56004337C>GCA237605236SUOXc.948C>G (p.Val316=)
c.*136C>G (n.*136C>G)
c.969C>G (p.Val323=)
 ClinVar dbSNP
12g.56004337C>TCA480366159SUOXc.948C>T (p.Val316=)
c.*136C>T (n.*136C>T)
c.969C>T (p.Val323=)
 gnomAD v4
12g.56004338T>ACA385289785SUOXc.949T>A (p.Cys317Ser)
c.*137T>A (n.*137T>A)
c.970T>A (p.Cys324Ser)
12g.56004338T>CCA385289778SUOXc.949T>C (p.Cys317Arg)
c.*137T>C (n.*137T>C)
c.970T>C (p.Cys324Arg)
12g.56004338T>GCA385289782SUOXc.949T>G (p.Cys317Gly)
c.*137T>G (n.*137T>G)
c.970T>G (p.Cys324Gly)
12g.56004339G>ACA385289795SUOXc.950G>A (p.Cys317Tyr)
c.*138G>A (n.*138G>A)
c.971G>A (p.Cys324Tyr)
12g.56004339G>CCA385289797SUOXc.950G>C (p.Cys317Ser)
c.*138G>C (n.*138G>C)
c.971G>C (p.Cys324Ser)
12g.56004339G=CA2038197829SUOXc.950G= (p.Cys317=)
c.*138G= (n.*138G=)
c.971G= (p.Cys324=)
12g.56004339G>TCA6621069SUOXc.950G>T (p.Cys317Phe)
c.*138G>T (n.*138G>T)
c.971G>T (p.Cys324Phe)
 ClinVar dbSNP ExAC
12g.56004340C>ACA385289802SUOXc.951C>A (p.Cys317Ter)
c.*139C>A (n.*139C>A)
c.972C>A (p.Cys324Ter)
12g.56004340C=CA2038197830SUOXc.951C= (p.Cys317=)
c.*139C= (n.*139C=)
c.972C= (p.Cys324=)
12g.56004340C>GCA385289805SUOXc.951C>G (p.Cys317Trp)
c.*139C>G (n.*139C>G)
c.972C>G (p.Cys324Trp)
12g.56004340C>TCA480366160SUOXc.951C>T (p.Cys317=)
c.*139C>T (n.*139C>T)
c.972C>T (p.Cys324=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004341T>ACA385289809SUOXc.952T>A (p.Phe318Ile)
c.*140T>A (n.*140T>A)
c.973T>A (p.Phe325Ile)
 gnomAD v4
12g.56004341T>CCA385289810SUOXc.952T>C (p.Phe318Leu)
c.*140T>C (n.*140T>C)
c.973T>C (p.Phe325Leu)
12g.56004341T>GCA385289811SUOXc.952T>G (p.Phe318Val)
c.*140T>G (n.*140T>G)
c.973T>G (p.Phe325Val)
12g.56004342T>ACA385289812SUOXc.953T>A (p.Phe318Tyr)
c.*141T>A (n.*141T>A)
c.974T>A (p.Phe325Tyr)
12g.56004342T>CCA385289814SUOXc.953T>C (p.Phe318Ser)
c.*141T>C (n.*141T>C)
c.974T>C (p.Phe325Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004342T>GCA385289816SUOXc.953T>G (p.Phe318Cys)
c.*141T>G (n.*141T>G)
c.974T>G (p.Phe325Cys)
12g.56004342T=CA2038197831SUOXc.953T= (p.Phe318=)
c.*141T= (n.*141T=)
c.974T= (p.Phe325=)
12g.56004343T>ACA385289820SUOXc.954T>A (p.Phe318Leu)
c.*142T>A (n.*142T>A)
c.975T>A (p.Phe325Leu)
12g.56004343T>CCA480366162SUOXc.954T>C (p.Phe318=)
c.*142T>C (n.*142T>C)
c.975T>C (p.Phe325=)
12g.56004343T>GCA385289847SUOXc.954T>G (p.Phe318Leu)
c.*142T>G (n.*142T>G)
c.975T>G (p.Phe325Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.56004343T=CA2038197832SUOXc.954T= (p.Phe318=)
c.*142T= (n.*142T=)
c.975T= (p.Phe325=)
12g.56004344G>ACA385289859SUOXc.955G>A (p.Glu319Lys)
c.*143G>A (n.*143G>A)
c.976G>A (p.Glu326Lys)
12g.56004344G>CCA237605238SUOXc.955G>C (p.Glu319Gln)
c.*143G>C (n.*143G>C)
c.976G>C (p.Glu326Gln)
 dbSNP COSMIC
12g.56004344G=CA2038197833SUOXc.955G= (p.Glu319=)
c.*143G= (n.*143G=)
c.976G= (p.Glu326=)
12g.56004344G>TCA385289865SUOXc.955G>T (p.Glu319Ter)
c.*143G>T (n.*143G>T)
c.976G>T (p.Glu326Ter)
12g.56004345A=CA2038197834SUOXc.956A= (p.Glu319=)
c.*144A= (n.*144A=)
c.977A= (p.Glu326=)
12g.56004345A>CCA385289878SUOXc.956A>C (p.Glu319Ala)
c.*144A>C (n.*144A>C)
c.977A>C (p.Glu326Ala)
12g.56004345A>GCA385289897SUOXc.956A>G (p.Glu319Gly)
c.*144A>G (n.*144A>G)
c.977A>G (p.Glu326Gly)
12g.56004345A>TCA385289944SUOXc.956A>T (p.Glu319Val)
c.*144A>T (n.*144A>T)
c.977A>T (p.Glu326Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004346G>ACA480366166SUOXc.957G>A (p.Glu319=)
c.*145G>A (n.*145G>A)
c.978G>A (p.Glu326=)
12g.56004346G>CCA385289949SUOXc.957G>C (p.Glu319Asp)
c.*145G>C (n.*145G>C)
c.978G>C (p.Glu326Asp)
12g.56004346G>TCA385289950SUOXc.957G>T (p.Glu319Asp)
c.*145G>T (n.*145G>T)
c.978G>T (p.Glu326Asp)
12g.56004347G>ACA385289951SUOXc.958G>A (p.Gly320Arg)
c.*146G>A (n.*146G>A)
c.979G>A (p.Gly327Arg)
 dbSNP gnomAD v2
12g.56004347G>CCA385289952SUOXc.958G>C (p.Gly320Arg)
c.*146G>C (n.*146G>C)
c.979G>C (p.Gly327Arg)
12g.56004347G=CA2038197835SUOXc.958G= (p.Gly320=)
c.*146G= (n.*146G=)
c.979G= (p.Gly327=)
12g.56004347G>TCA385289961SUOXc.958G>T (p.Gly320Ter)
c.*146G>T (n.*146G>T)
c.979G>T (p.Gly327Ter)
12g.56004347_56004350delCA2619253685SUOXc.958_961del (p.Gly320TrpfsTer?)
c.*146_*149del (n.*146_*149del)
c.979_982del (p.Gly327TrpfsTer?)
 gnomAD v4
12g.56004348G>ACA385289962SUOXc.959G>A (p.Gly320Glu)
c.*147G>A (n.*147G>A)
c.980G>A (p.Gly327Glu)
 dbSNP gnomAD v3 gnomAD v4
12g.56004348G>CCA385289963SUOXc.959G>C (p.Gly320Ala)
c.*147G>C (n.*147G>C)
c.980G>C (p.Gly327Ala)
12g.56004348G=CA2038197836SUOXc.959G= (p.Gly320=)
c.*147G= (n.*147G=)
c.980G= (p.Gly327=)
12g.56004348G>TCA385289964SUOXc.959G>T (p.Gly320Val)
c.*147G>T (n.*147G>T)
c.980G>T (p.Gly327Val)
 gnomAD v4 COSMIC
12g.56004349A>CCA480366170SUOXc.960A>C (p.Gly320=)
c.*148A>C (n.*148A>C)
c.981A>C (p.Gly327=)
12g.56004349A>GCA480366169SUOXc.960A>G (p.Gly320=)
c.*148A>G (n.*148A>G)
c.981A>G (p.Gly327=)
 gnomAD v4
12g.56004349A>TCA480366168SUOXc.960A>T (p.Gly320=)
c.*148A>T (n.*148A>T)
c.981A>T (p.Gly327=)
12g.56004350C>ACA385289968SUOXc.961C>A (p.Leu321Met)
c.*149C>A (n.*149C>A)
c.982C>A (p.Leu328Met)
12g.56004350C>GCA385289993SUOXc.961C>G (p.Leu321Val)
c.*149C>G (n.*149C>G)
c.982C>G (p.Leu328Val)
12g.56004350C>TCA480366171SUOXc.961C>T (p.Leu321=)
c.*149C>T (n.*149C>T)
c.982C>T (p.Leu328=)
 gnomAD v4
12g.56004351T>ACA385289999SUOXc.962T>A (p.Leu321Gln)
c.*150T>A (n.*150T>A)
c.983T>A (p.Leu328Gln)
12g.56004351T>CCA385290003SUOXc.962T>C (p.Leu321Pro)
c.*150T>C (n.*150T>C)
c.983T>C (p.Leu328Pro)
12g.56004351T>GCA385290001SUOXc.962T>G (p.Leu321Arg)
c.*150T>G (n.*150T>G)
c.983T>G (p.Leu328Arg)
 gnomAD v4
12g.56004352G>ACA480366175SUOXc.963G>A (p.Leu321=)
c.*151G>A (n.*151G>A)
c.984G>A (p.Leu328=)
12g.56004352G>CCA480366176SUOXc.963G>C (p.Leu321=)
c.*151G>C (n.*151G>C)
c.984G>C (p.Leu328=)
12g.56004352G>TCA480366177SUOXc.963G>T (p.Leu321=)
c.*151G>T (n.*151G>T)
c.984G>T (p.Leu328=)
12g.56004352_56004360delCA2619253696SUOXc.963_971del (p.Asp322_Asp324del)
c.*151_*159del (n.*151_*159del)
c.984_992del (p.Asp329_Asp331del)
 gnomAD v4
12g.56004353G>ACA385290008SUOXc.964G>A (p.Asp322Asn)
c.*152G>A (n.*152G>A)
c.985G>A (p.Asp329Asn)
12g.56004353G>CCA385290012SUOXc.964G>C (p.Asp322His)
c.*152G>C (n.*152G>C)
c.985G>C (p.Asp329His)
12g.56004353G>TCA385290020SUOXc.964G>T (p.Asp322Tyr)
c.*152G>T (n.*152G>T)
c.985G>T (p.Asp329Tyr)
12g.56004354A>CCA385290037SUOXc.965A>C (p.Asp322Ala)
c.*153A>C (n.*153A>C)
c.986A>C (p.Asp329Ala)
12g.56004354A>GCA385290048SUOXc.965A>G (p.Asp322Gly)
c.*153A>G (n.*153A>G)
c.986A>G (p.Asp329Gly)
12g.56004354A>TCA385290053SUOXc.965A>T (p.Asp322Val)
c.*153A>T (n.*153A>T)
c.986A>T (p.Asp329Val)
12g.56004355C>ACA385290060SUOXc.966C>A (p.Asp322Glu)
c.*154C>A (n.*154C>A)
c.987C>A (p.Asp329Glu)
12g.56004355C>GCA385290064SUOXc.966C>G (p.Asp322Glu)
c.*154C>G (n.*154C>G)
c.987C>G (p.Asp329Glu)
 COSMIC
12g.56004355C>TCA480366181SUOXc.966C>T (p.Asp322=)
c.*154C>T (n.*154C>T)
c.987C>T (p.Asp329=)
 gnomAD v4
12g.56004356T>ACA385290065SUOXc.967T>A (p.Ser323Thr)
c.*155T>A (n.*155T>A)
c.988T>A (p.Ser330Thr)
12g.56004356T>CCA385290067SUOXc.967T>C (p.Ser323Pro)
c.*155T>C (n.*155T>C)
c.988T>C (p.Ser330Pro)
 gnomAD v4
12g.56004356T>GCA385290069SUOXc.967T>G (p.Ser323Ala)
c.*155T>G (n.*155T>G)
c.988T>G (p.Ser330Ala)
12g.56004357C>ACA385290073SUOXc.968C>A (p.Ser323Ter)
c.*156C>A (n.*156C>A)
c.989C>A (p.Ser330Ter)
12g.56004357C=CA2038197837SUOXc.968C= (p.Ser323=)
c.*156C= (n.*156C=)
c.989C= (p.Ser330=)
12g.56004357C>GCA385290074SUOXc.968C>G (p.Ser323Ter)
c.*156C>G (n.*156C>G)
c.989C>G (p.Ser330Ter)
 dbSNP COSMIC
12g.56004357C>TCA6621070SUOXc.968C>T (p.Ser323Leu)
c.*156C>T (n.*156C>T)
c.989C>T (p.Ser330Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004358A>CCA480366185SUOXc.969A>C (p.Ser323=)
c.*157A>C (n.*157A>C)
c.990A>C (p.Ser330=)
12g.56004358A>GCA480366186SUOXc.969A>G (p.Ser323=)
c.*157A>G (n.*157A>G)
c.990A>G (p.Ser330=)
12g.56004358A>TCA480366187SUOXc.969A>T (p.Ser323=)
c.*157A>T (n.*157A>T)
c.990A>T (p.Ser330=)
12g.56004359G>ACA385290078SUOXc.970G>A (p.Asp324Asn)
c.*158G>A (n.*158G>A)
c.991G>A (p.Asp331Asn)
12g.56004359G>CCA385290084SUOXc.970G>C (p.Asp324His)
c.*158G>C (n.*158G>C)
c.991G>C (p.Asp331His)
12g.56004359G>TCA385290079SUOXc.970G>T (p.Asp324Tyr)
c.*158G>T (n.*158G>T)
c.991G>T (p.Asp331Tyr)
12g.56004360A=CA2038197838SUOXc.971A= (p.Asp324=)
c.*159A= (n.*159A=)
c.992A= (p.Asp331=)
12g.56004360A>CCA385290088SUOXc.971A>C (p.Asp324Ala)
c.*159A>C (n.*159A>C)
c.992A>C (p.Asp331Ala)
 dbSNP gnomAD v4
12g.56004360A>GCA385290089SUOXc.971A>G (p.Asp324Gly)
c.*159A>G (n.*159A>G)
c.992A>G (p.Asp331Gly)
12g.56004360A>TCA385290090SUOXc.971A>T (p.Asp324Val)
c.*159A>T (n.*159A>T)
c.992A>T (p.Asp331Val)
12g.56004361C>ACA6621071SUOXc.972C>A (p.Asp324Glu)
c.*160C>A (n.*160C>A)
c.993C>A (p.Asp331Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004361C=CA2038197839SUOXc.972C= (p.Asp324=)
c.*160C= (n.*160C=)
c.993C= (p.Asp331=)
12g.56004361C>GCA385290097SUOXc.972C>G (p.Asp324Glu)
c.*160C>G (n.*160C>G)
c.993C>G (p.Asp331Glu)
12g.56004361C>TCA480366191SUOXc.972C>T (p.Asp324=)
c.*160C>T (n.*160C>T)
c.993C>T (p.Asp331=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.56004362C>ACA385290109SUOXc.973C>A (p.Pro325Thr)
c.*161C>A (n.*161C>A)
c.994C>A (p.Pro332Thr)
12g.56004362C>GCA385290107SUOXc.973C>G (p.Pro325Ala)
c.*161C>G (n.*161C>G)
c.994C>G (p.Pro332Ala)
12g.56004362C>TCA385290105SUOXc.973C>T (p.Pro325Ser)
c.*161C>T (n.*161C>T)
c.994C>T (p.Pro332Ser)
 gnomAD v4 COSMIC
12g.56004363C>ACA385290118SUOXc.974C>A (p.Pro325His)
c.*162C>A (n.*162C>A)
c.995C>A (p.Pro332His)
12g.56004363C>GCA385290119SUOXc.974C>G (p.Pro325Arg)
c.*162C>G (n.*162C>G)
c.995C>G (p.Pro332Arg)
12g.56004363C>TCA385290121SUOXc.974C>T (p.Pro325Leu)
c.*162C>T (n.*162C>T)
c.995C>T (p.Pro332Leu)
12g.56004364T>ACA480366196SUOXc.975T>A (p.Pro325=)
c.*163T>A (n.*163T>A)
c.996T>A (p.Pro332=)
12g.56004364T>CCA480366197SUOXc.975T>C (p.Pro325=)
c.*163T>C (n.*163T>C)
c.996T>C (p.Pro332=)
 gnomAD v4
12g.56004364T>GCA480366199SUOXc.975T>G (p.Pro325=)
c.*163T>G (n.*163T>G)
c.996T>G (p.Pro332=)
12g.56004365A=CA2038197840SUOXc.976A= (p.Thr326=)
c.*164A= (n.*164A=)
c.997A= (p.Thr333=)
12g.56004365A>CCA385290122SUOXc.976A>C (p.Thr326Pro)
c.*164A>C (n.*164A>C)
c.997A>C (p.Thr333Pro)
12g.56004365A>GCA6621072SUOXc.976A>G (p.Thr326Ala)
c.*164A>G (n.*164A>G)
c.997A>G (p.Thr333Ala)
 dbSNP ExAC gnomAD v2
12g.56004365A>TCA385290123SUOXc.976A>T (p.Thr326Ser)
c.*164A>T (n.*164A>T)
c.997A>T (p.Thr333Ser)
12g.56004366C>ACA6621073SUOXc.977C>A (p.Thr326Asn)
c.*165C>A (n.*165C>A)
c.998C>A (p.Thr333Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004366C=CA2038197841SUOXc.977C= (p.Thr326=)
c.*165C= (n.*165C=)
c.998C= (p.Thr333=)
12g.56004366C>GCA385290135SUOXc.977C>G (p.Thr326Ser)
c.*165C>G (n.*165C>G)
c.998C>G (p.Thr333Ser)
12g.56004366C>TCA385290137SUOXc.977C>T (p.Thr326Ile)
c.*165C>T (n.*165C>T)
c.998C>T (p.Thr333Ile)
12g.56004367T>ACA480366200SUOXc.978T>A (p.Thr326=)
c.*166T>A (n.*166T>A)
c.999T>A (p.Thr333=)
12g.56004367T>CCA480366201SUOXc.978T>C (p.Thr326=)
c.*166T>C (n.*166T>C)
c.999T>C (p.Thr333=)
12g.56004367T>GCA480366203SUOXc.978T>G (p.Thr326=)
c.*166T>G (n.*166T>G)
c.999T>G (p.Thr333=)
12g.56004368G>ACA385290143SUOXc.979G>A (p.Gly327Arg)
c.*167G>A (n.*167G>A)
c.1000G>A (p.Gly334Arg)
 dbSNP gnomAD v4
12g.56004368G>CCA385290148SUOXc.979G>C (p.Gly327Arg)
c.*167G>C (n.*167G>C)
c.1000G>C (p.Gly334Arg)
12g.56004368G=CA2038197842SUOXc.979G= (p.Gly327=)
c.*167G= (n.*167G=)
c.1000G= (p.Gly334=)
12g.56004368G>TCA385290154SUOXc.979G>T (p.Gly327Trp)
c.*167G>T (n.*167G>T)
c.1000G>T (p.Gly334Trp)
12g.56004369G>ACA385290158SUOXc.980G>A (p.Gly327Glu)
c.*168G>A (n.*168G>A)
c.1001G>A (p.Gly334Glu)
12g.56004369G>CCA385290161SUOXc.980G>C (p.Gly327Ala)
c.*168G>C (n.*168G>C)
c.1001G>C (p.Gly334Ala)
12g.56004369G>TCA385290165SUOXc.980G>T (p.Gly327Val)
c.*168G>T (n.*168G>T)
c.1001G>T (p.Gly334Val)
12g.56004370G>ACA480366208SUOXc.981G>A (p.Gly327=)
c.*169G>A (n.*169G>A)
c.1002G>A (p.Gly334=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004370G>CCA480366206SUOXc.981G>C (p.Gly327=)
c.*169G>C (n.*169G>C)
c.1002G>C (p.Gly334=)
 gnomAD v4
12g.56004370G=CA2038197843SUOXc.981G= (p.Gly327=)
c.*169G= (n.*169G=)
c.1002G= (p.Gly334=)
12g.56004370G>TCA480366207SUOXc.981G>T (p.Gly327=)
c.*169G>T (n.*169G>T)
c.1002G>T (p.Gly334=)
12g.56004371A>CCA385290171SUOXc.982A>C (p.Thr328Pro)
c.*170A>C (n.*170A>C)
c.1003A>C (p.Thr335Pro)
12g.56004371A>GCA385290175SUOXc.982A>G (p.Thr328Ala)
c.*170A>G (n.*170A>G)
c.1003A>G (p.Thr335Ala)
12g.56004371A>TCA385290178SUOXc.982A>T (p.Thr328Ser)
c.*170A>T (n.*170A>T)
c.1003A>T (p.Thr335Ser)
12g.56004372C>ACA385290181SUOXc.983C>A (p.Thr328Asn)
c.*171C>A (n.*171C>A)
c.1004C>A (p.Thr335Asn)
12g.56004372C=CA2038197844SUOXc.983C= (p.Thr328=)
c.*171C= (n.*171C=)
c.1004C= (p.Thr335=)
12g.56004372C>GCA385290187SUOXc.983C>G (p.Thr328Ser)
c.*171C>G (n.*171C>G)
c.1004C>G (p.Thr335Ser)
12g.56004372C>TCA6621074SUOXc.983C>T (p.Thr328Ile)
c.*171C>T (n.*171C>T)
c.1004C>T (p.Thr335Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004373T>ACA480366210SUOXc.984T>A (p.Thr328=)
c.*172T>A (n.*172T>A)
c.1005T>A (p.Thr335=)
12g.56004373T>CCA480366216SUOXc.984T>C (p.Thr328=)
c.*172T>C (n.*172T>C)
c.1005T>C (p.Thr335=)
12g.56004373T>GCA480366217SUOXc.984T>G (p.Thr328=)
c.*172T>G (n.*172T>G)
c.1005T>G (p.Thr335=)
12g.56004373dupCA2619253738SUOXc.984dup (p.Ala329CysfsTer15)
c.*172dup (n.*172dup)
c.1005dup (p.Ala336CysfsTer15)
 gnomAD v4
12g.56004374G>ACA6621075SUOXc.985G>A (p.Ala329Thr)
c.*173G>A (n.*173G>A)
c.1006G>A (p.Ala336Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004374G>CCA385290202SUOXc.985G>C (p.Ala329Pro)
c.*173G>C (n.*173G>C)
c.1006G>C (p.Ala336Pro)
 gnomAD v4
12g.56004374G=CA2038197845SUOXc.985G= (p.Ala329=)
c.*173G= (n.*173G=)
c.1006G= (p.Ala336=)
12g.56004374G>TCA385290199SUOXc.985G>T (p.Ala329Ser)
c.*173G>T (n.*173G>T)
c.1006G>T (p.Ala336Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.56004375C>ACA385290203SUOXc.986C>A (p.Ala329Asp)
c.*174C>A (n.*174C>A)
c.1007C>A (p.Ala336Asp)
12g.56004375C>GCA385290204SUOXc.986C>G (p.Ala329Gly)
c.*174C>G (n.*174C>G)
c.1007C>G (p.Ala336Gly)
12g.56004375C>TCA385290208SUOXc.986C>T (p.Ala329Val)
c.*174C>T (n.*174C>T)
c.1007C>T (p.Ala336Val)
12g.56004376C>ACA480366221SUOXc.987C>A (p.Ala329=)
c.*175C>A (n.*175C>A)
c.1008C>A (p.Ala336=)
12g.56004376C>GCA480366222SUOXc.987C>G (p.Ala329=)
c.*175C>G (n.*175C>G)
c.1008C>G (p.Ala336=)
12g.56004376C>TCA480366223SUOXc.987C>T (p.Ala329=)
c.*175C>T (n.*175C>T)
c.1008C>T (p.Ala336=)
12g.56004377T>ACA385290212SUOXc.988T>A (p.Tyr330Asn)
c.*176T>A (n.*176T>A)
c.1009T>A (p.Tyr337Asn)
12g.56004377T>CCA385290218SUOXc.988T>C (p.Tyr330His)
c.*176T>C (n.*176T>C)
c.1009T>C (p.Tyr337His)
12g.56004377T>GCA385290221SUOXc.988T>G (p.Tyr330Asp)
c.*176T>G (n.*176T>G)
c.1009T>G (p.Tyr337Asp)
12g.56004378A=CA2038197846SUOXc.989A= (p.Tyr330=)
c.*177A= (n.*177A=)
c.1010A= (p.Tyr337=)
12g.56004378A>CCA385290226SUOXc.989A>C (p.Tyr330Ser)
c.*177A>C (n.*177A>C)
c.1010A>C (p.Tyr337Ser)
12g.56004378A>GCA6621076SUOXc.989A>G (p.Tyr330Cys)
c.*177A>G (n.*177A>G)
c.1010A>G (p.Tyr337Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004378A>TCA385290227SUOXc.989A>T (p.Tyr330Phe)
c.*177A>T (n.*177A>T)
c.1010A>T (p.Tyr337Phe)
 gnomAD v4
12g.56004379T>ACA385290228SUOXc.990T>A (p.Tyr330Ter)
c.*178T>A (n.*178T>A)
c.1011T>A (p.Tyr337Ter)
12g.56004379T>CCA480366228SUOXc.990T>C (p.Tyr330=)
c.*178T>C (n.*178T>C)
c.1011T>C (p.Tyr337=)
12g.56004379T>GCA385290230SUOXc.990T>G (p.Tyr330Ter)
c.*178T>G (n.*178T>G)
c.1011T>G (p.Tyr337Ter)
12g.56004380G>ACA385290243SUOXc.991G>A (p.Gly331Arg)
c.*179G>A (n.*179G>A)
c.1012G>A (p.Gly338Arg)
12g.56004380G>CCA385290240SUOXc.991G>C (p.Gly331Arg)
c.*179G>C (n.*179G>C)
c.1012G>C (p.Gly338Arg)
12g.56004380G>TCA385290236SUOXc.991G>T (p.Gly331Ter)
c.*179G>T (n.*179G>T)
c.1012G>T (p.Gly338Ter)
12g.56004381G>ACA385290247SUOXc.992G>A (p.Gly331Glu)
c.*180G>A (n.*180G>A)
c.1013G>A (p.Gly338Glu)
12g.56004381G>CCA385290253SUOXc.992G>C (p.Gly331Ala)
c.*180G>C (n.*180G>C)
c.1013G>C (p.Gly338Ala)
12g.56004381G>TCA385290257SUOXc.992G>T (p.Gly331Val)
c.*180G>T (n.*180G>T)
c.1013G>T (p.Gly338Val)
12g.56004382A>CCA480366230SUOXc.993A>C (p.Gly331=)
c.*181A>C (n.*181A>C)
c.1014A>C (p.Gly338=)
 gnomAD v4
12g.56004382A>GCA480366231SUOXc.993A>G (p.Gly331=)
c.*181A>G (n.*181A>G)
c.1014A>G (p.Gly338=)
12g.56004382A>TCA480366232SUOXc.993A>T (p.Gly331=)
c.*181A>T (n.*181A>T)
c.1014A>T (p.Gly338=)
12g.56004383G>ACA385290263SUOXc.994G>A (p.Ala332Thr)
c.*182G>A (n.*182G>A)
c.1015G>A (p.Ala339Thr)
 dbSNP gnomAD v3 gnomAD v4
12g.56004383G>CCA385290267SUOXc.994G>C (p.Ala332Pro)
c.*182G>C (n.*182G>C)
c.1015G>C (p.Ala339Pro)
12g.56004383G=CA2038197847SUOXc.994G= (p.Ala332=)
c.*182G= (n.*182G=)
c.1015G= (p.Ala339=)
12g.56004383G>TCA385290269SUOXc.994G>T (p.Ala332Ser)
c.*182G>T (n.*182G>T)
c.1015G>T (p.Ala339Ser)
12g.56004384C>ACA385290272SUOXc.995C>A (p.Ala332Glu)
c.*183C>A (n.*183C>A)
c.1016C>A (p.Ala339Glu)
12g.56004384C>GCA385290273SUOXc.995C>G (p.Ala332Gly)
c.*183C>G (n.*183C>G)
c.1016C>G (p.Ala339Gly)
12g.56004384C>TCA385290274SUOXc.995C>T (p.Ala332Val)
c.*183C>T (n.*183C>T)
c.1016C>T (p.Ala339Val)
12g.56004385A>CCA480366235SUOXc.996A>C (p.Ala332=)
c.*184A>C (n.*184A>C)
c.1017A>C (p.Ala339=)
12g.56004385A>GCA480366236SUOXc.996A>G (p.Ala332=)
c.*184A>G (n.*184A>G)
c.1017A>G (p.Ala339=)
12g.56004385A>TCA480366237SUOXc.996A>T (p.Ala332=)
c.*184A>T (n.*184A>T)
c.1017A>T (p.Ala339=)
12g.56004386T>ACA385290277SUOXc.997T>A (p.Ser333Thr)
c.*185T>A (n.*185T>A)
c.1018T>A (p.Ser340Thr)
12g.56004386T>CCA385290285SUOXc.997T>C (p.Ser333Pro)
c.*185T>C (n.*185T>C)
c.1018T>C (p.Ser340Pro)
 gnomAD v4
12g.56004386T>GCA385290286SUOXc.997T>G (p.Ser333Ala)
c.*185T>G (n.*185T>G)
c.1018T>G (p.Ser340Ala)
12g.56004387C>ACA385290293SUOXc.998C>A (p.Ser333Tyr)
c.*186C>A (n.*186C>A)
c.1019C>A (p.Ser340Tyr)
12g.56004387C>GCA385290292SUOXc.998C>G (p.Ser333Cys)
c.*186C>G (n.*186C>G)
c.1019C>G (p.Ser340Cys)
12g.56004387C>TCA385290289SUOXc.998C>T (p.Ser333Phe)
c.*186C>T (n.*186C>T)
c.1019C>T (p.Ser340Phe)
12g.56004388C>ACA480366241SUOXc.999C>A (p.Ser333=)
c.*187C>A (n.*187C>A)
c.1020C>A (p.Ser340=)
12g.56004388C>GCA480366242SUOXc.999C>G (p.Ser333=)
c.*187C>G (n.*187C>G)
c.1020C>G (p.Ser340=)
12g.56004388C>TCA480366243SUOXc.999C>T (p.Ser333=)
c.*187C>T (n.*187C>T)
c.1020C>T (p.Ser340=)
12g.56004389A=CA2038197848SUOXc.1000A= (p.Ile334=)
c.*188A= (n.*188A=)
c.1021A= (p.Ile341=)
12g.56004389A>CCA385290298SUOXc.1000A>C (p.Ile334Leu)
c.*188A>C (n.*188A>C)
c.1021A>C (p.Ile341Leu)
12g.56004389A>GCA385290296SUOXc.1000A>G (p.Ile334Val)
c.*188A>G (n.*188A>G)
c.1021A>G (p.Ile341Val)
 dbSNP gnomAD v3 gnomAD v4
12g.56004389A>TCA385290300SUOXc.1000A>T (p.Ile334Phe)
c.*188A>T (n.*188A>T)
c.1021A>T (p.Ile341Phe)
12g.56004390T>ACA385290303SUOXc.1001T>A (p.Ile334Asn)
c.*189T>A (n.*189T>A)
c.1022T>A (p.Ile341Asn)
12g.56004390T>CCA385290307SUOXc.1001T>C (p.Ile334Thr)
c.*189T>C (n.*189T>C)
c.1022T>C (p.Ile341Thr)
12g.56004390T>GCA385290310SUOXc.1001T>G (p.Ile334Ser)
c.*189T>G (n.*189T>G)
c.1022T>G (p.Ile341Ser)
12g.56004391C>ACA480366248SUOXc.1002C>A (p.Ile334=)
c.*190C>A (n.*190C>A)
c.1023C>A (p.Ile341=)
12g.56004391C>GCA385290312SUOXc.1002C>G (p.Ile334Met)
c.*190C>G (n.*190C>G)
c.1023C>G (p.Ile341Met)
12g.56004391C>TCA480366247SUOXc.1002C>T (p.Ile334=)
c.*190C>T (n.*190C>T)
c.1023C>T (p.Ile341=)
12g.56004392C>ACA385290316SUOXc.1003C>A (p.Pro335Thr)
c.*191C>A (n.*191C>A)
c.1024C>A (p.Pro342Thr)
12g.56004392C=CA2038197849SUOXc.1003C= (p.Pro335=)
c.*191C= (n.*191C=)
c.1024C= (p.Pro342=)
12g.56004392C>GCA385290318SUOXc.1003C>G (p.Pro335Ala)
c.*191C>G (n.*191C>G)
c.1024C>G (p.Pro342Ala)
12g.56004392C>TCA385290323SUOXc.1003C>T (p.Pro335Ser)
c.*191C>T (n.*191C>T)
c.1024C>T (p.Pro342Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.56004393C>ACA385290327SUOXc.1004C>A (p.Pro335His)
c.*192C>A (n.*192C>A)
c.1025C>A (p.Pro342His)
 COSMIC
12g.56004393C=CA2038197850SUOXc.1004C= (p.Pro335=)
c.*192C= (n.*192C=)
c.1025C= (p.Pro342=)
12g.56004393C>GCA6621077SUOXc.1004C>G (p.Pro335Arg)
c.*192C>G (n.*192C>G)
c.1025C>G (p.Pro342Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004393C>TCA385290332SUOXc.1004C>T (p.Pro335Leu)
c.*192C>T (n.*192C>T)
c.1025C>T (p.Pro342Leu)
 gnomAD v4
12g.56004394T>ACA480366252SUOXc.1005T>A (p.Pro335=)
c.*193T>A (n.*193T>A)
c.1026T>A (p.Pro342=)
12g.56004394T>CCA480366253SUOXc.1005T>C (p.Pro335=)
c.*193T>C (n.*193T>C)
c.1026T>C (p.Pro342=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004394T>GCA480366254SUOXc.1005T>G (p.Pro335=)
c.*193T>G (n.*193T>G)
c.1026T>G (p.Pro342=)
12g.56004394T=CA2038197851SUOXc.1005T= (p.Pro335=)
c.*193T= (n.*193T=)
c.1026T= (p.Pro342=)
12g.56004395C>ACA385290335SUOXc.1006C>A (p.Leu336Met)
c.*194C>A (n.*194C>A)
c.1027C>A (p.Leu343Met)
12g.56004395C=CA2038197852SUOXc.1006C= (p.Leu336=)
c.*194C= (n.*194C=)
c.1027C= (p.Leu343=)
12g.56004395C>GCA6621078SUOXc.1006C>G (p.Leu336Val)
c.*194C>G (n.*194C>G)
c.1027C>G (p.Leu343Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004395C>TCA480366255SUOXc.1006C>T (p.Leu336=)
c.*194C>T (n.*194C>T)
c.1027C>T (p.Leu343=)
 ClinVar dbSNP
12g.56004396T>ACA385290350SUOXc.1007T>A (p.Leu336Gln)
c.*195T>A (n.*195T>A)
c.1028T>A (p.Leu343Gln)
12g.56004396T>CCA385290342SUOXc.1007T>C (p.Leu336Pro)
c.*195T>C (n.*195T>C)
c.1028T>C (p.Leu343Pro)
12g.56004396T>GCA385290344SUOXc.1007T>G (p.Leu336Arg)
c.*195T>G (n.*195T>G)
c.1028T>G (p.Leu343Arg)
12g.56004397G>ACA480366258SUOXc.1008G>A (p.Leu336=)
c.*196G>A (n.*196G>A)
c.1029G>A (p.Leu343=)
12g.56004397G>CCA480366260SUOXc.1008G>C (p.Leu336=)
c.*196G>C (n.*196G>C)
c.1029G>C (p.Leu343=)
12g.56004397G>TCA480366259SUOXc.1008G>T (p.Leu336=)
c.*196G>T (n.*196G>T)
c.1029G>T (p.Leu343=)
12g.56004398G>ACA385290353SUOXc.1009G>A (p.Ala337Thr)
c.*197G>A (n.*197G>A)
c.1030G>A (p.Ala344Thr)
12g.56004398G>CCA385290356SUOXc.1009G>C (p.Ala337Pro)
c.*197G>C (n.*197G>C)
c.1030G>C (p.Ala344Pro)
12g.56004398G>TCA385290358SUOXc.1009G>T (p.Ala337Ser)
c.*197G>T (n.*197G>T)
c.1030G>T (p.Ala344Ser)
12g.56004399C>ACA385290361SUOXc.1010C>A (p.Ala337Asp)
c.*198C>A (n.*198C>A)
c.1031C>A (p.Ala344Asp)
12g.56004399C>GCA385290363SUOXc.1010C>G (p.Ala337Gly)
c.*198C>G (n.*198C>G)
c.1031C>G (p.Ala344Gly)
12g.56004399C>TCA385290365SUOXc.1010C>T (p.Ala337Val)
c.*198C>T (n.*198C>T)
c.1031C>T (p.Ala344Val)
 gnomAD v4
12g.56004400T>ACA480366262SUOXc.1011T>A (p.Ala337=)
c.*199T>A (n.*199T>A)
c.1032T>A (p.Ala344=)
12g.56004400T>CCA480366264SUOXc.1011T>C (p.Ala337=)
c.*199T>C (n.*199T>C)
c.1032T>C (p.Ala344=)
12g.56004400T>GCA480366263SUOXc.1011T>G (p.Ala337=)
c.*199T>G (n.*199T>G)
c.1032T>G (p.Ala344=)
12g.56004401C>ACA480366265SUOXc.1012C>A (p.Arg338=)
c.*200C>A (n.*200C>A)
c.1033C>A (p.Arg345=)
12g.56004401C=CA2038197853SUOXc.1012C= (p.Arg338=)
c.*200C= (n.*200C=)
c.1033C= (p.Arg345=)
12g.56004401C>GCA385290369SUOXc.1012C>G (p.Arg338Gly)
c.*200C>G (n.*200C>G)
c.1033C>G (p.Arg345Gly)
12g.56004401C>TCA6621079SUOXc.1012C>T (p.Arg338Trp)
c.*200C>T (n.*200C>T)
c.1033C>T (p.Arg345Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004402G>ACA6621080SUOXc.1013G>A (p.Arg338Gln)
c.*201G>A (n.*201G>A)
c.1034G>A (p.Arg345Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004402G>CCA385290375SUOXc.1013G>C (p.Arg338Pro)
c.*201G>C (n.*201G>C)
c.1034G>C (p.Arg345Pro)
 dbSNP gnomAD v2 gnomAD v4
12g.56004402G=CA2038197854SUOXc.1013G= (p.Arg338=)
c.*201G= (n.*201G=)
c.1034G= (p.Arg345=)
12g.56004402G>TCA385290378SUOXc.1013G>T (p.Arg338Leu)
c.*201G>T (n.*201G>T)
c.1034G>T (p.Arg345Leu)
12g.56004403G>ACA480366266SUOXc.1014G>A (p.Arg338=)
c.*202G>A (n.*202G>A)
c.1035G>A (p.Arg345=)
 ClinVar gnomAD v4
12g.56004403G>CCA480366267SUOXc.1014G>C (p.Arg338=)
c.*202G>C (n.*202G>C)
c.1035G>C (p.Arg345=)
 COSMIC
12g.56004403G>TCA480366268SUOXc.1014G>T (p.Arg338=)
c.*202G>T (n.*202G>T)
c.1035G>T (p.Arg345=)
12g.56004404G>ACA385290385SUOXc.1015G>A (p.Ala339Thr)
c.*203G>A (n.*203G>A)
c.1036G>A (p.Ala346Thr)
 gnomAD v4
12g.56004404G>CCA385290387SUOXc.1015G>C (p.Ala339Pro)
c.*203G>C (n.*203G>C)
c.1036G>C (p.Ala346Pro)
12g.56004404G>TCA385290382SUOXc.1015G>T (p.Ala339Ser)
c.*203G>T (n.*203G>T)
c.1036G>T (p.Ala346Ser)
12g.56004405C>ACA385290392SUOXc.1016C>A (p.Ala339Asp)
c.*204C>A (n.*204C>A)
c.1037C>A (p.Ala346Asp)
12g.56004405C=CA2038197855SUOXc.1016C= (p.Ala339=)
c.*204C= (n.*204C=)
c.1037C= (p.Ala346=)
12g.56004405C>GCA385290394SUOXc.1016C>G (p.Ala339Gly)
c.*204C>G (n.*204C>G)
c.1037C>G (p.Ala346Gly)
12g.56004405C>TCA6621081SUOXc.1016C>T (p.Ala339Val)
c.*204C>T (n.*204C>T)
c.1037C>T (p.Ala346Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004406C>ACA480366272SUOXc.1017C>A (p.Ala339=)
c.*205C>A (n.*205C>A)
c.1038C>A (p.Ala346=)
12g.56004406C>GCA480366273SUOXc.1017C>G (p.Ala339=)
c.*205C>G (n.*205C>G)
c.1038C>G (p.Ala346=)
12g.56004406C>TCA480366274SUOXc.1017C>T (p.Ala339=)
c.*205C>T (n.*205C>T)
c.1038C>T (p.Ala346=)
 ClinVar
12g.56004407A=CA2038197856SUOXc.1018A= (p.Met340=)
c.*206A= (n.*206A=)
c.1039A= (p.Met347=)
12g.56004407A>CCA385290401SUOXc.1018A>C (p.Met340Leu)
c.*206A>C (n.*206A>C)
c.1039A>C (p.Met347Leu)
12g.56004407A>GCA6621082SUOXc.1018A>G (p.Met340Val)
c.*206A>G (n.*206A>G)
c.1039A>G (p.Met347Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004407A>TCA385290405SUOXc.1018A>T (p.Met340Leu)
c.*206A>T (n.*206A>T)
c.1039A>T (p.Met347Leu)
 ClinVar dbSNP
12g.56004408T>ACA385290408SUOXc.1019T>A (p.Met340Lys)
c.*207T>A (n.*207T>A)
c.1040T>A (p.Met347Lys)
12g.56004408T>CCA385290410SUOXc.1019T>C (p.Met340Thr)
c.*207T>C (n.*207T>C)
c.1040T>C (p.Met347Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.56004408T>GCA385290412SUOXc.1019T>G (p.Met340Arg)
c.*207T>G (n.*207T>G)
c.1040T>G (p.Met347Arg)
12g.56004408T=CA2038197857SUOXc.1019T= (p.Met340=)
c.*207T= (n.*207T=)
c.1040T= (p.Met347=)
12g.56004409G>ACA385290414SUOXc.1020G>A (p.Met340Ile)
c.*208G>A (n.*208G>A)
c.1041G>A (p.Met347Ile)
12g.56004409G>CCA385290417SUOXc.1020G>C (p.Met340Ile)
c.*208G>C (n.*208G>C)
c.1041G>C (p.Met347Ile)
12g.56004409G>TCA385290419SUOXc.1020G>T (p.Met340Ile)
c.*208G>T (n.*208G>T)
c.1041G>T (p.Met347Ile)
12g.56004410G>ACA6621083SUOXc.1021G>A (p.Asp341Asn)
c.*209G>A (n.*209G>A)
c.1042G>A (p.Asp348Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004410G>CCA385290428SUOXc.1021G>C (p.Asp341His)
c.*209G>C (n.*209G>C)
c.1042G>C (p.Asp348His)
12g.56004410G=CA2038197858SUOXc.1021G= (p.Asp341=)
c.*209G= (n.*209G=)
c.1042G= (p.Asp348=)
12g.56004410G>TCA385290424SUOXc.1021G>T (p.Asp341Tyr)
c.*209G>T (n.*209G>T)
c.1042G>T (p.Asp348Tyr)
12g.56004411A>CCA385290432SUOXc.1022A>C (p.Asp341Ala)
c.*210A>C (n.*210A>C)
c.1043A>C (p.Asp348Ala)
12g.56004411A>GCA385290435SUOXc.1022A>G (p.Asp341Gly)
c.*210A>G (n.*210A>G)
c.1043A>G (p.Asp348Gly)
12g.56004411A>TCA385290437SUOXc.1022A>T (p.Asp341Val)
c.*210A>T (n.*210A>T)
c.1043A>T (p.Asp348Val)
12g.56004412C>ACA385290440SUOXc.1023C>A (p.Asp341Glu)
c.*211C>A (n.*211C>A)
c.1044C>A (p.Asp348Glu)
12g.56004412C>GCA385290442SUOXc.1023C>G (p.Asp341Glu)
c.*211C>G (n.*211C>G)
c.1044C>G (p.Asp348Glu)
12g.56004412C>TCA480366278SUOXc.1023C>T (p.Asp341=)
c.*211C>T (n.*211C>T)
c.1044C>T (p.Asp348=)
12g.56004413C>ACA385290452SUOXc.1024C>A (p.Pro342Thr)
c.*212C>A (n.*212C>A)
c.1045C>A (p.Pro349Thr)
 gnomAD v4
12g.56004413C>GCA385290447SUOXc.1024C>G (p.Pro342Ala)
c.*212C>G (n.*212C>G)
c.1045C>G (p.Pro349Ala)
 gnomAD v4
12g.56004413C>TCA385290450SUOXc.1024C>T (p.Pro342Ser)
c.*212C>T (n.*212C>T)
c.1045C>T (p.Pro349Ser)
12g.56004414C>ACA385290457SUOXc.1025C>A (p.Pro342His)
c.*213C>A (n.*213C>A)
c.1046C>A (p.Pro349His)
12g.56004414C=CA2038197859SUOXc.1025C= (p.Pro342=)
c.*213C= (n.*213C=)
c.1046C= (p.Pro349=)
12g.56004414C>GCA385290459SUOXc.1025C>G (p.Pro342Arg)
c.*213C>G (n.*213C>G)
c.1046C>G (p.Pro349Arg)
12g.56004414C>TCA385290462SUOXc.1025C>T (p.Pro342Leu)
c.*213C>T (n.*213C>T)
c.1046C>T (p.Pro349Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.56004415T>ACA480366282SUOXc.1026T>A (p.Pro342=)
c.*214T>A (n.*214T>A)
c.1047T>A (p.Pro349=)
12g.56004415T>CCA480366283SUOXc.1026T>C (p.Pro342=)
c.*214T>C (n.*214T>C)
c.1047T>C (p.Pro349=)
 gnomAD v4
12g.56004415T>GCA480366284SUOXc.1026T>G (p.Pro342=)
c.*214T>G (n.*214T>G)
c.1047T>G (p.Pro349=)
12g.56004416G>ACA385290466SUOXc.1027G>A (p.Glu343Lys)
c.*215G>A (n.*215G>A)
c.1048G>A (p.Glu350Lys)
12g.56004416G>CCA385290468SUOXc.1027G>C (p.Glu343Gln)
c.*215G>C (n.*215G>C)
c.1048G>C (p.Glu350Gln)
12g.56004416G>TCA385290471SUOXc.1027G>T (p.Glu343Ter)
c.*215G>T (n.*215G>T)
c.1048G>T (p.Glu350Ter)
12g.56004417A>CCA385290478SUOXc.1028A>C (p.Glu343Ala)
c.*216A>C (n.*216A>C)
c.1049A>C (p.Glu350Ala)
12g.56004417A>GCA385290481SUOXc.1028A>G (p.Glu343Gly)
c.*216A>G (n.*216A>G)
c.1049A>G (p.Glu350Gly)
12g.56004417A>TCA385290475SUOXc.1028A>T (p.Glu343Val)
c.*216A>T (n.*216A>T)
c.1049A>T (p.Glu350Val)

Number of alleles fetched