Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.56004280_56004282delinsGCTCA2038197803SUOXc.891_893delinsGCT (p.Arg297=)
c.*79_*81delinsGCT (n.*79_*81delinsGCT)
c.912_914delinsGCT (p.Arg304=)
12g.56004281C>ACA385289024SUOXc.892C>A (p.Leu298Ile)
c.*80C>A (n.*80C>A)
c.913C>A (p.Leu305Ile)
12g.56004281C=CA2038197805SUOXc.892C= (p.Leu298=)
c.*80C= (n.*80C=)
c.913C= (p.Leu305=)
12g.56004281C>GCA385289021SUOXc.892C>G (p.Leu298Val)
c.*80C>G (n.*80C>G)
c.913C>G (p.Leu305Val)
 gnomAD v4
12g.56004281C>TCA385289020SUOXc.892C>T (p.Leu298Phe)
c.*80C>T (n.*80C>T)
c.913C>T (p.Leu305Phe)
 dbSNP gnomAD v4
12g.56004283_56004284delCA2038197804SUOXc.894_895del (p.Cys299Ter)
c.*82_*83del (n.*82_*83del)
c.915_916del (p.Cys306Ter)
 dbSNP
12g.56004282T>ACA385289028SUOXc.893T>A (p.Leu298His)
c.*81T>A (n.*81T>A)
c.914T>A (p.Leu305His)
12g.56004282T>CCA385289033SUOXc.893T>C (p.Leu298Pro)
c.*81T>C (n.*81T>C)
c.914T>C (p.Leu305Pro)
12g.56004282T>GCA385289040SUOXc.893T>G (p.Leu298Arg)
c.*81T>G (n.*81T>G)
c.914T>G (p.Leu305Arg)
12g.56004283C>ACA480366446SUOXc.894C>A (p.Leu298=)
c.*82C>A (n.*82C>A)
c.915C>A (p.Leu305=)
12g.56004283C=CA2038197806SUOXc.894C= (p.Leu298=)
c.*82C= (n.*82C=)
c.915C= (p.Leu305=)
12g.56004283C>GCA480366447SUOXc.894C>G (p.Leu298=)
c.*82C>G (n.*82C>G)
c.915C>G (p.Leu305=)
12g.56004283C>TCA480366448SUOXc.894C>T (p.Leu298=)
c.*82C>T (n.*82C>T)
c.915C>T (p.Leu305=)
 dbSNP gnomAD v2 gnomAD v4
12g.56004284T>ACA385289046SUOXc.895T>A (p.Cys299Ser)
c.*83T>A (n.*83T>A)
c.916T>A (p.Cys306Ser)
12g.56004284T>CCA385289050SUOXc.895T>C (p.Cys299Arg)
c.*83T>C (n.*83T>C)
c.916T>C (p.Cys306Arg)
 gnomAD v4
12g.56004284T>GCA385289051SUOXc.895T>G (p.Cys299Gly)
c.*83T>G (n.*83T>G)
c.916T>G (p.Cys306Gly)
12g.56004285G>ACA385289078SUOXc.896G>A (p.Cys299Tyr)
c.*84G>A (n.*84G>A)
c.917G>A (p.Cys306Tyr)
12g.56004285G>CCA385289055SUOXc.896G>C (p.Cys299Ser)
c.*84G>C (n.*84G>C)
c.917G>C (p.Cys306Ser)
12g.56004285G>TCA385289069SUOXc.896G>T (p.Cys299Phe)
c.*84G>T (n.*84G>T)
c.917G>T (p.Cys306Phe)
12g.56004286T>ACA385289085SUOXc.897T>A (p.Cys299Ter)
c.*85T>A (n.*85T>A)
c.918T>A (p.Cys306Ter)
12g.56004286T>CCA480366453SUOXc.897T>C (p.Cys299=)
c.*85T>C (n.*85T>C)
c.918T>C (p.Cys306=)
12g.56004286T>GCA385289093SUOXc.897T>G (p.Cys299Trp)
c.*85T>G (n.*85T>G)
c.918T>G (p.Cys306Trp)
12g.56004287G>ACA385289106SUOXc.898G>A (p.Asp300Asn)
c.*86G>A (n.*86G>A)
c.919G>A (p.Asp307Asn)
12g.56004287G>CCA385289111SUOXc.898G>C (p.Asp300His)
c.*86G>C (n.*86G>C)
c.919G>C (p.Asp307His)
 dbSNP gnomAD v2 gnomAD v4
12g.56004287G=CA2038197807SUOXc.898G= (p.Asp300=)
c.*86G= (n.*86G=)
c.919G= (p.Asp307=)
12g.56004287G>TCA385289113SUOXc.898G>T (p.Asp300Tyr)
c.*86G>T (n.*86G>T)
c.919G>T (p.Asp307Tyr)
 dbSNP
12g.56004288A>CCA385289118SUOXc.899A>C (p.Asp300Ala)
c.*87A>C (n.*87A>C)
c.920A>C (p.Asp307Ala)
12g.56004288A>GCA385289128SUOXc.899A>G (p.Asp300Gly)
c.*87A>G (n.*87A>G)
c.920A>G (p.Asp307Gly)
12g.56004288A>TCA385289133SUOXc.899A>T (p.Asp300Val)
c.*87A>T (n.*87A>T)
c.920A>T (p.Asp307Val)
12g.56004289T>ACA385289134SUOXc.900T>A (p.Asp300Glu)
c.*88T>A (n.*88T>A)
c.921T>A (p.Asp307Glu)
12g.56004289T>CCA480366456SUOXc.900T>C (p.Asp300=)
c.*88T>C (n.*88T>C)
c.921T>C (p.Asp307=)
12g.56004289T>GCA385289135SUOXc.900T>G (p.Asp300Glu)
c.*88T>G (n.*88T>G)
c.921T>G (p.Asp307Glu)
12g.56004292_56004293delCA2619253574SUOXc.903_904del (p.Leu302SerfsTer9)
c.*91_*92del (n.*91_*92del)
c.924_925del (p.Leu309SerfsTer9)
 gnomAD v4
12g.56004290G>ACA385289140SUOXc.901G>A (p.Val301Met)
c.*89G>A (n.*89G>A)
c.922G>A (p.Val308Met)
 gnomAD v4
12g.56004290G>CCA385289146SUOXc.901G>C (p.Val301Leu)
c.*89G>C (n.*89G>C)
c.922G>C (p.Val308Leu)
12g.56004290G>TCA385289157SUOXc.901G>T (p.Val301Leu)
c.*89G>T (n.*89G>T)
c.922G>T (p.Val308Leu)
12g.56004291T>ACA385289174SUOXc.902T>A (p.Val301Glu)
c.*90T>A (n.*90T>A)
c.923T>A (p.Val308Glu)
12g.56004291T>CCA385289178SUOXc.902T>C (p.Val301Ala)
c.*90T>C (n.*90T>C)
c.923T>C (p.Val308Ala)
12g.56004291T>GCA385289175SUOXc.902T>G (p.Val301Gly)
c.*90T>G (n.*90T>G)
c.923T>G (p.Val308Gly)
12g.56004292G>ACA6621061SUOXc.903G>A (p.Val301=)
c.*91G>A (n.*91G>A)
c.924G>A (p.Val308=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004292G>CCA6621062SUOXc.903G>C (p.Val301=)
c.*91G>C (n.*91G>C)
c.924G>C (p.Val308=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004292G=CA2038197808SUOXc.903G= (p.Val301=)
c.*91G= (n.*91G=)
c.924G= (p.Val308=)
12g.56004292G>TCA480366459SUOXc.903G>T (p.Val301=)
c.*91G>T (n.*91G>T)
c.924G>T (p.Val308=)
12g.56004293T>ACA385289187SUOXc.904T>A (p.Leu302Ile)
c.*92T>A (n.*92T>A)
c.925T>A (p.Leu309Ile)
12g.56004293T>CCA480366461SUOXc.904T>C (p.Leu302=)
c.*92T>C (n.*92T>C)
c.925T>C (p.Leu309=)
12g.56004293T>GCA385289192SUOXc.904T>G (p.Leu302Val)
c.*92T>G (n.*92T>G)
c.925T>G (p.Leu309Val)
12g.56004294T>ACA385289193SUOXc.905T>A (p.Leu302Ter)
c.*93T>A (n.*93T>A)
c.926T>A (p.Leu309Ter)
12g.56004294T>CCA385289194SUOXc.905T>C (p.Leu302Ser)
c.*93T>C (n.*93T>C)
c.926T>C (p.Leu309Ser)
12g.56004294T>GCA385289199SUOXc.905T>G (p.Leu302Ter)
c.*93T>G (n.*93T>G)
c.926T>G (p.Leu309Ter)
 ClinVar dbSNP
12g.56004295A>CCA385289211SUOXc.906A>C (p.Leu302Phe)
c.*94A>C (n.*94A>C)
c.927A>C (p.Leu309Phe)
12g.56004295A>GCA480366465SUOXc.906A>G (p.Leu302=)
c.*94A>G (n.*94A>G)
c.927A>G (p.Leu309=)
12g.56004295A>TCA385289213SUOXc.906A>T (p.Leu302Phe)
c.*94A>T (n.*94A>T)
c.927A>T (p.Leu309Phe)
12g.56004296G>ACA385289216SUOXc.907G>A (p.Ala303Thr)
c.*95G>A (n.*95G>A)
c.928G>A (p.Ala310Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.56004296G>CCA385289220SUOXc.907G>C (p.Ala303Pro)
c.*95G>C (n.*95G>C)
c.928G>C (p.Ala310Pro)
12g.56004296G=CA2038197809SUOXc.907G= (p.Ala303=)
c.*95G= (n.*95G=)
c.928G= (p.Ala310=)
12g.56004296G>TCA385289225SUOXc.907G>T (p.Ala303Ser)
c.*95G>T (n.*95G>T)
c.928G>T (p.Ala310Ser)
12g.56004296_56004297delinsGCCA2038197810SUOXc.907_908delinsGC (p.Ala303=)
c.*95_*96delinsGC (n.*95_*96delinsGC)
c.928_929delinsGC (p.Ala310=)
12g.56004297C>ACA385289232SUOXc.908C>A (p.Ala303Asp)
c.*96C>A (n.*96C>A)
c.929C>A (p.Ala310Asp)
12g.56004297C>GCA385289228SUOXc.908C>G (p.Ala303Gly)
c.*96C>G (n.*96C>G)
c.929C>G (p.Ala310Gly)
12g.56004297C>TCA385289227SUOXc.908C>T (p.Ala303Val)
c.*96C>T (n.*96C>T)
c.929C>T (p.Ala310Val)
12g.56004299delCA947976930SUOXc.910del (p.Gln304ArgfsTer?)
c.*98del (n.*98del)
c.931del (p.Gln311ArgfsTer?)
 dbSNP gnomAD v3 gnomAD v4
12g.56004298C>ACA480366469SUOXc.909C>A (p.Ala303=)
c.*97C>A (n.*97C>A)
c.930C>A (p.Ala310=)
12g.56004298C=CA2038197811SUOXc.909C= (p.Ala303=)
c.*97C= (n.*97C=)
c.930C= (p.Ala310=)
12g.56004298C>GCA480366470SUOXc.909C>G (p.Ala303=)
c.*97C>G (n.*97C>G)
c.930C>G (p.Ala310=)
12g.56004298C>TCA6621063SUOXc.909C>T (p.Ala303=)
c.*97C>T (n.*97C>T)
c.930C>T (p.Ala310=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004299C>ACA385289237SUOXc.910C>A (p.Gln304Lys)
c.*98C>A (n.*98C>A)
c.931C>A (p.Gln311Lys)
12g.56004299C>GCA385289241SUOXc.910C>G (p.Gln304Glu)
c.*98C>G (n.*98C>G)
c.931C>G (p.Gln311Glu)
12g.56004299C>TCA385289254SUOXc.910C>T (p.Gln304Ter)
c.*98C>T (n.*98C>T)
c.931C>T (p.Gln311Ter)
12g.56004300A>CCA385289266SUOXc.911A>C (p.Gln304Pro)
c.*99A>C (n.*99A>C)
c.932A>C (p.Gln311Pro)
12g.56004300A>GCA385289271SUOXc.911A>G (p.Gln304Arg)
c.*99A>G (n.*99A>G)
c.932A>G (p.Gln311Arg)
 gnomAD v4
12g.56004300A>TCA385289288SUOXc.911A>T (p.Gln304Leu)
c.*99A>T (n.*99A>T)
c.932A>T (p.Gln311Leu)
12g.56004301G>ACA480366473SUOXc.912G>A (p.Gln304=)
c.*100G>A (n.*100G>A)
c.933G>A (p.Gln311=)
 gnomAD v4
12g.56004301G>CCA385289302SUOXc.912G>C (p.Gln304His)
c.*100G>C (n.*100G>C)
c.933G>C (p.Gln311His)
12g.56004301G>TCA385289304SUOXc.912G>T (p.Gln304His)
c.*100G>T (n.*100G>T)
c.933G>T (p.Gln311His)
12g.56004302G>ACA385289311SUOXc.913G>A (p.Ala305Thr)
c.*101G>A (n.*101G>A)
c.934G>A (p.Ala312Thr)
 ClinVar dbSNP gnomAD v4
12g.56004302G>CCA385289317SUOXc.913G>C (p.Ala305Pro)
c.*101G>C (n.*101G>C)
c.934G>C (p.Ala312Pro)
12g.56004302G=CA2038197812SUOXc.913G= (p.Ala305=)
c.*101G= (n.*101G=)
c.934G= (p.Ala312=)
12g.56004302G>TCA385289325SUOXc.913G>T (p.Ala305Ser)
c.*101G>T (n.*101G>T)
c.934G>T (p.Ala312Ser)
12g.56004303C>ACA385289344SUOXc.914C>A (p.Ala305Asp)
c.*102C>A (n.*102C>A)
c.935C>A (p.Ala312Asp)
12g.56004303C>GCA385289333SUOXc.914C>G (p.Ala305Gly)
c.*102C>G (n.*102C>G)
c.935C>G (p.Ala312Gly)
 gnomAD v4
12g.56004303C>TCA385289340SUOXc.914C>T (p.Ala305Val)
c.*102C>T (n.*102C>T)
c.935C>T (p.Ala312Val)
12g.56004304T>ACA480366478SUOXc.915T>A (p.Ala305=)
c.*103T>A (n.*103T>A)
c.936T>A (p.Ala312=)
12g.56004304T>CCA480366479SUOXc.915T>C (p.Ala305=)
c.*103T>C (n.*103T>C)
c.936T>C (p.Ala312=)
12g.56004304T>GCA480366480SUOXc.915T>G (p.Ala305=)
c.*103T>G (n.*103T>G)
c.936T>G (p.Ala312=)
12g.56004304_56004305delinsTGCA2038197813SUOXc.915_916delinsTG (p.Ala305=)
c.*103_*104delinsTG (n.*103_*104delinsTG)
c.936_937delinsTG (p.Ala312=)
12g.56004305G>ACA385289357SUOXc.916G>A (p.Gly306Ser)
c.*104G>A (n.*104G>A)
c.937G>A (p.Gly313Ser)
12g.56004305G>CCA385289363SUOXc.916G>C (p.Gly306Arg)
c.*104G>C (n.*104G>C)
c.937G>C (p.Gly313Arg)
12g.56004305G>TCA385289360SUOXc.916G>T (p.Gly306Cys)
c.*104G>T (n.*104G>T)
c.937G>T (p.Gly313Cys)
12g.56004306delCA605401136SUOXc.917del (p.Gly306AlafsTer?)
c.*105del (n.*105del)
c.938del (p.Gly313AlafsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004306G>ACA385289366SUOXc.917G>A (p.Gly306Asp)
c.*105G>A (n.*105G>A)
c.938G>A (p.Gly313Asp)
 dbSNP gnomAD v2 gnomAD v4
12g.56004306G>CCA385289376SUOXc.917G>C (p.Gly306Ala)
c.*105G>C (n.*105G>C)
c.938G>C (p.Gly313Ala)
12g.56004306G=CA2038197814SUOXc.917G= (p.Gly306=)
c.*105G= (n.*105G=)
c.938G= (p.Gly313=)
12g.56004306G>TCA385289371SUOXc.917G>T (p.Gly306Val)
c.*105G>T (n.*105G>T)
c.938G>T (p.Gly313Val)
12g.56004307C>ACA480366481SUOXc.918C>A (p.Gly306=)
c.*106C>A (n.*106C>A)
c.939C>A (p.Gly313=)
12g.56004307C>GCA480366482SUOXc.918C>G (p.Gly306=)
c.*106C>G (n.*106C>G)
c.939C>G (p.Gly313=)
12g.56004307C>TCA480366484SUOXc.918C>T (p.Gly306=)
c.*106C>T (n.*106C>T)
c.939C>T (p.Gly313=)
12g.56004308C>ACA385289381SUOXc.919C>A (p.His307Asn)
c.*107C>A (n.*107C>A)
c.940C>A (p.His314Asn)
12g.56004308C>GCA385289388SUOXc.919C>G (p.His307Asp)
c.*107C>G (n.*107C>G)
c.940C>G (p.His314Asp)
12g.56004308C>TCA385289391SUOXc.919C>T (p.His307Tyr)
c.*107C>T (n.*107C>T)
c.940C>T (p.His314Tyr)
12g.56004309A>CCA385289393SUOXc.920A>C (p.His307Pro)
c.*108A>C (n.*108A>C)
c.941A>C (p.His314Pro)
12g.56004309A>GCA385289398SUOXc.920A>G (p.His307Arg)
c.*108A>G (n.*108A>G)
c.941A>G (p.His314Arg)
12g.56004309A>TCA385289405SUOXc.920A>T (p.His307Leu)
c.*108A>T (n.*108A>T)
c.941A>T (p.His314Leu)
12g.56004310C>ACA385289424SUOXc.921C>A (p.His307Gln)
c.*109C>A (n.*109C>A)
c.942C>A (p.His314Gln)
 gnomAD v4
12g.56004310C>GCA385289432SUOXc.921C>G (p.His307Gln)
c.*109C>G (n.*109C>G)
c.942C>G (p.His314Gln)
12g.56004310C>TCA480366486SUOXc.921C>T (p.His307=)
c.*109C>T (n.*109C>T)
c.942C>T (p.His314=)
12g.56004311C>ACA6621064SUOXc.922C>A (p.Gln308Lys)
c.*110C>A (n.*110C>A)
c.943C>A (p.Gln315Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004311C=CA2038197815SUOXc.922C= (p.Gln308=)
c.*110C= (n.*110C=)
c.943C= (p.Gln315=)
12g.56004311C>GCA385289438SUOXc.922C>G (p.Gln308Glu)
c.*110C>G (n.*110C>G)
c.943C>G (p.Gln315Glu)
12g.56004311C>TCA385289447SUOXc.922C>T (p.Gln308Ter)
c.*110C>T (n.*110C>T)
c.943C>T (p.Gln315Ter)
 dbSNP
12g.56004312A>CCA385289455SUOXc.923A>C (p.Gln308Pro)
c.*111A>C (n.*111A>C)
c.944A>C (p.Gln315Pro)
12g.56004312A>GCA385289454SUOXc.923A>G (p.Gln308Arg)
c.*111A>G (n.*111A>G)
c.944A>G (p.Gln315Arg)
 gnomAD v4
12g.56004312A>TCA385289452SUOXc.923A>T (p.Gln308Leu)
c.*111A>T (n.*111A>T)
c.944A>T (p.Gln315Leu)
12g.56004313A=CA2038197816SUOXc.924A= (p.Gln308=)
c.*112A= (n.*112A=)
c.945A= (p.Gln315=)
12g.56004313A>CCA385289458SUOXc.924A>C (p.Gln308His)
c.*112A>C (n.*112A>C)
c.945A>C (p.Gln315His)
12g.56004313A>GCA480366488SUOXc.924A>G (p.Gln308=)
c.*112A>G (n.*112A>G)
c.945A>G (p.Gln315=)
 dbSNP
12g.56004313A>TCA385289462SUOXc.924A>T (p.Gln308His)
c.*112A>T (n.*112A>T)
c.945A>T (p.Gln315His)
12g.56004314C>ACA237605229SUOXc.925C>A (p.Leu309Ile)
c.*113C>A (n.*113C>A)
c.946C>A (p.Leu316Ile)
 dbSNP
12g.56004314C=CA2038197817SUOXc.925C= (p.Leu309=)
c.*113C= (n.*113C=)
c.946C= (p.Leu316=)
12g.56004314C>GCA385289480SUOXc.925C>G (p.Leu309Val)
c.*113C>G (n.*113C>G)
c.946C>G (p.Leu316Val)
12g.56004314C>TCA385289486SUOXc.925C>T (p.Leu309Phe)
c.*113C>T (n.*113C>T)
c.946C>T (p.Leu316Phe)
 gnomAD v4
12g.56004315T>ACA385289501SUOXc.926T>A (p.Leu309His)
c.*114T>A (n.*114T>A)
c.947T>A (p.Leu316His)
12g.56004315T>CCA385289503SUOXc.926T>C (p.Leu309Pro)
c.*114T>C (n.*114T>C)
c.947T>C (p.Leu316Pro)
12g.56004315T>GCA385289507SUOXc.926T>G (p.Leu309Arg)
c.*114T>G (n.*114T>G)
c.947T>G (p.Leu316Arg)
12g.56004316C>ACA480366492SUOXc.927C>A (p.Leu309=)
c.*115C>A (n.*115C>A)
c.948C>A (p.Leu316=)
12g.56004316C=CA2038197819SUOXc.927C= (p.Leu309=)
c.*115C= (n.*115C=)
c.948C= (p.Leu316=)
12g.56004316C>GCA480366493SUOXc.927C>G (p.Leu309=)
c.*115C>G (n.*115C>G)
c.948C>G (p.Leu316=)
12g.56004316C>TCA480366495SUOXc.927C>T (p.Leu309=)
c.*115C>T (n.*115C>T)
c.948C>T (p.Leu316=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
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)

Number of alleles fetched