Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.112477839T>ACA2621024656PTPN11c.934-18T>A (n.934-18T>A)
c.820-18T>A (n.820-18T>A)
c.931-18T>A (n.931-18T>A)
 gnomAD v4
12g.112477840T>CCA6798687PTPN11c.934-17T>C (n.934-17T>C)
c.820-17T>C (n.820-17T>C)
c.931-17T>C (n.931-17T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.112477840T=CA2063775900PTPN11c.934-17T= (n.934-17T=)
c.820-17T= (n.820-17T=)
c.931-17T= (n.931-17T=)
12g.112477843_112477844delinsTCCA2063775902PTPN11c.934-14_934-13delinsTC (n.934-14_934-13delinsTC)
c.820-14_820-13delinsTC (n.820-14_820-13delinsTC)
c.931-14_931-13delinsTC (n.931-14_931-13delinsTC)
12g.112477845delCA919176248PTPN11c.934-12del (n.934-12del)
c.820-12del (n.820-12del)
c.931-12del (n.931-12del)
 ClinVar dbSNP gnomAD v4
12g.112477845C=CA2063775905PTPN11c.934-12C= (n.934-12C=)
c.820-12C= (n.820-12C=)
c.931-12C= (n.931-12C=)
12g.112477845C>TCA297068PTPN11c.934-12C>T (n.934-12C>T)
c.820-12C>T (n.820-12C>T)
c.931-12C>T (n.931-12C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.112477847A=CA2063775911PTPN11c.934-10A= (n.934-10A=)
c.820-10A= (n.820-10A=)
c.931-10A= (n.931-10A=)
12g.112477847A>GCA6798688PTPN11c.934-10A>G (n.934-10A>G)
c.820-10A>G (n.820-10A>G)
c.931-10A>G (n.931-10A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112477853C>GCA2621024657PTPN11c.934-4C>G (n.934-4C>G)
c.820-4C>G (n.820-4C>G)
c.931-4C>G (n.931-4C>G)
 gnomAD v4
12g.112477855A>CCA386790961PTPN11c.934-2A>C (n.934-2A>C)
c.820-2A>C (n.820-2A>C)
c.931-2A>C (n.931-2A>C)
12g.112477855A>GCA386790958PTPN11c.934-2A>G (n.934-2A>G)
c.820-2A>G (n.820-2A>G)
c.931-2A>G (n.931-2A>G)
12g.112477855A>TCA386790960PTPN11c.934-2A>T (n.934-2A>T)
c.820-2A>T (n.820-2A>T)
c.931-2A>T (n.931-2A>T)
12g.112477856G>ACA386790964PTPN11c.934-1G>A (n.934-1G>A)
c.820-1G>A (n.820-1G>A)
c.931-1G>A (n.931-1G>A)
12g.112477856G>CCA386790967PTPN11c.934-1G>C (n.934-1G>C)
c.820-1G>C (n.820-1G>C)
c.931-1G>C (n.931-1G>C)
12g.112477856G>TCA386790970PTPN11c.934-1G>T (n.934-1G>T)
c.820-1G>T (n.820-1G>T)
c.931-1G>T (n.931-1G>T)
12g.112477857C>ACA386790977PTPN11c.934C>A (p.Pro312Thr)
c.820C>A (p.Pro274Thr)
c.931C>A (p.Pro311Thr)
 ClinVar dbSNP gnomAD v4
12g.112477857C=CA2063775913PTPN11c.934C= (p.Pro312=)
c.820C= (p.Pro274=)
c.931C= (p.Pro311=)
12g.112477857C>GCA386790978PTPN11c.934C>G (p.Pro312Ala)
c.820C>G (p.Pro274Ala)
c.931C>G (p.Pro311Ala)
 dbSNP gnomAD v3 gnomAD v4
12g.112477857C>TCA386790980PTPN11c.934C>T (p.Pro312Ser)
c.820C>T (p.Pro274Ser)
c.931C>T (p.Pro311Ser)
12g.112477858C>ACA386790988PTPN11c.935C>A (p.Pro312His)
c.821C>A (p.Pro274His)
c.932C>A (p.Pro311His)
12g.112477858C=CA2063775917PTPN11c.935C= (p.Pro312=)
c.821C= (p.Pro274=)
c.932C= (p.Pro311=)
12g.112477858C>GCA386790986PTPN11c.935C>G (p.Pro312Arg)
c.821C>G (p.Pro274Arg)
c.932C>G (p.Pro311Arg)
12g.112477858C>TCA386790985PTPN11c.935C>T (p.Pro312Leu)
c.821C>T (p.Pro274Leu)
c.932C>T (p.Pro311Leu)
 dbSNP gnomAD v4
12g.112477859T>ACA481887771PTPN11c.936T>A (p.Pro312=)
c.822T>A (p.Pro274=)
c.933T>A (p.Pro311=)
12g.112477859T>CCA481887767PTPN11c.936T>C (p.Pro312=)
c.822T>C (p.Pro274=)
c.933T>C (p.Pro311=)
12g.112477859T>GCA481887770PTPN11c.936T>G (p.Pro312=)
c.822T>G (p.Pro274=)
c.933T>G (p.Pro311=)
12g.112477860G>ACA386790990PTPN11c.937G>A (p.Glu313Lys)
c.823G>A (p.Glu275Lys)
c.934G>A (p.Glu312Lys)
 gnomAD v4
12g.112477860G>CCA386790993PTPN11c.937G>C (p.Glu313Gln)
c.823G>C (p.Glu275Gln)
c.934G>C (p.Glu312Gln)
12g.112477860G>TCA386790996PTPN11c.937G>T (p.Glu313Ter)
c.823G>T (p.Glu275Ter)
c.934G>T (p.Glu312Ter)
 COSMIC
12g.112477861A=CA2063775921PTPN11c.938A= (p.Glu313=)
c.824A= (p.Glu275=)
c.935A= (p.Glu312=)
12g.112477861A>CCA386790999PTPN11c.938A>C (p.Glu313Ala)
c.824A>C (p.Glu275Ala)
c.935A>C (p.Glu312Ala)
12g.112477861A>GCA386791000PTPN11c.938A>G (p.Glu313Gly)
c.824A>G (p.Glu275Gly)
c.935A>G (p.Glu312Gly)
12g.112477861A>TCA386791001PTPN11c.938A>T (p.Glu313Val)
c.824A>T (p.Glu275Val)
c.935A>T (p.Glu312Val)
 dbSNP
12g.112477862A=CA2063775925PTPN11c.939A= (p.Glu313=)
c.825A= (p.Glu275=)
c.936A= (p.Glu312=)
12g.112477862A>CCA386791003PTPN11c.939A>C (p.Glu313Asp)
c.825A>C (p.Glu275Asp)
c.936A>C (p.Glu312Asp)
12g.112477862A>GCA6798689PTPN11c.939A>G (p.Glu313=)
c.825A>G (p.Glu275=)
c.936A>G (p.Glu312=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.112477862A>TCA386791005PTPN11c.939A>T (p.Glu313Asp)
c.825A>T (p.Glu275Asp)
c.936A>T (p.Glu312Asp)
12g.112477863T>ACA386791009PTPN11c.940T>A (p.Phe314Ile)
c.826T>A (p.Phe276Ile)
c.937T>A (p.Phe313Ile)
12g.112477863T>CCA243712000PTPN11c.940T>C (p.Phe314Leu)
c.826T>C (p.Phe276Leu)
c.937T>C (p.Phe313Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.112477863T>GCA386791010PTPN11c.940T>G (p.Phe314Val)
c.826T>G (p.Phe276Val)
c.937T>G (p.Phe313Val)
12g.112477863T=CA2063775931PTPN11c.940T= (p.Phe314=)
c.826T= (p.Phe276=)
c.937T= (p.Phe313=)
12g.112477865delCA2727226114PTPN11c.942del (p.Phe314LeufsTer25)
c.828del (p.Phe276LeufsTer25)
c.939del (p.Phe313LeufsTer25)
 dbSNP
12g.112477864T>ACA386791012PTPN11c.941T>A (p.Phe314Tyr)
c.827T>A (p.Phe276Tyr)
c.938T>A (p.Phe313Tyr)
12g.112477864T>CCA386791013PTPN11c.941T>C (p.Phe314Ser)
c.827T>C (p.Phe276Ser)
c.938T>C (p.Phe313Ser)
12g.112477864T>GCA386791014PTPN11c.941T>G (p.Phe314Cys)
c.827T>G (p.Phe276Cys)
c.938T>G (p.Phe313Cys)
12g.112477865T>ACA386791017PTPN11c.942T>A (p.Phe314Leu)
c.828T>A (p.Phe276Leu)
c.939T>A (p.Phe313Leu)
12g.112477865T>CCA481887781PTPN11c.942T>C (p.Phe314=)
c.828T>C (p.Phe276=)
c.939T>C (p.Phe313=)
12g.112477865T>GCA386791020PTPN11c.942T>G (p.Phe314Leu)
c.828T>G (p.Phe276Leu)
c.939T>G (p.Phe313Leu)
12g.112477866G>ACA386791022PTPN11c.943G>A (p.Glu315Lys)
c.829G>A (p.Glu277Lys)
c.940G>A (p.Glu314Lys)
12g.112477866G>CCA386791025PTPN11c.943G>C (p.Glu315Gln)
c.829G>C (p.Glu277Gln)
c.940G>C (p.Glu314Gln)
12g.112477866G>TCA386791028PTPN11c.943G>T (p.Glu315Ter)
c.829G>T (p.Glu277Ter)
c.940G>T (p.Glu314Ter)
12g.112477867A>CCA386791030PTPN11c.944A>C (p.Glu315Ala)
c.830A>C (p.Glu277Ala)
c.941A>C (p.Glu314Ala)
12g.112477867A>GCA386791037PTPN11c.944A>G (p.Glu315Gly)
c.830A>G (p.Glu277Gly)
c.941A>G (p.Glu314Gly)
12g.112477867A>TCA386791034PTPN11c.944A>T (p.Glu315Val)
c.830A>T (p.Glu277Val)
c.941A>T (p.Glu314Val)
12g.112477868A>CCA386791039PTPN11c.945A>C (p.Glu315Asp)
c.831A>C (p.Glu277Asp)
c.942A>C (p.Glu314Asp)
12g.112477868A>GCA481887785PTPN11c.945A>G (p.Glu315=)
c.831A>G (p.Glu277=)
c.942A>G (p.Glu314=)
 gnomAD v4
12g.112477868A>TCA386791042PTPN11c.945A>T (p.Glu315Asp)
c.831A>T (p.Glu277Asp)
c.942A>T (p.Glu314Asp)
12g.112477869A>CCA386791046PTPN11c.946A>C (p.Thr316Pro)
c.832A>C (p.Thr278Pro)
c.943A>C (p.Thr315Pro)
12g.112477869A>GCA386791049PTPN11c.946A>G (p.Thr316Ala)
c.832A>G (p.Thr278Ala)
c.943A>G (p.Thr315Ala)
12g.112477869A>TCA386791054PTPN11c.946A>T (p.Thr316Ser)
c.832A>T (p.Thr278Ser)
c.943A>T (p.Thr315Ser)
12g.112477870C>ACA386791058PTPN11c.947C>A (p.Thr316Asn)
c.833C>A (p.Thr278Asn)
c.944C>A (p.Thr315Asn)
12g.112477870C=CA2063775938PTPN11c.947C= (p.Thr316=)
c.833C= (p.Thr278=)
c.944C= (p.Thr315=)
12g.112477870C>GCA386791059PTPN11c.947C>G (p.Thr316Ser)
c.833C>G (p.Thr278Ser)
c.944C>G (p.Thr315Ser)
12g.112477870C>TCA6798690PTPN11c.947C>T (p.Thr316Ile)
c.833C>T (p.Thr278Ile)
c.944C>T (p.Thr315Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.112477871C>ACA481887791PTPN11c.948C>A (p.Thr316=)
c.834C>A (p.Thr278=)
c.945C>A (p.Thr315=)
12g.112477871C=CA2063775940PTPN11c.948C= (p.Thr316=)
c.834C= (p.Thr278=)
c.945C= (p.Thr315=)
12g.112477871C>GCA481887792PTPN11c.948C>G (p.Thr316=)
c.834C>G (p.Thr278=)
c.945C>G (p.Thr315=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.112477871C>TCA481887793PTPN11c.948C>T (p.Thr316=)
c.834C>T (p.Thr278=)
c.945C>T (p.Thr315=)
12g.112477872A>CCA386791061PTPN11c.949A>C (p.Lys317Gln)
c.835A>C (p.Lys279Gln)
c.946A>C (p.Lys316Gln)
12g.112477872A>GCA386791063PTPN11c.949A>G (p.Lys317Glu)
c.835A>G (p.Lys279Glu)
c.946A>G (p.Lys316Glu)
12g.112477872A>TCA386791065PTPN11c.949A>T (p.Lys317Ter)
c.835A>T (p.Lys279Ter)
c.946A>T (p.Lys316Ter)
12g.112477873A>CCA386791067PTPN11c.950A>C (p.Lys317Thr)
c.836A>C (p.Lys279Thr)
c.947A>C (p.Lys316Thr)
12g.112477873A>GCA386791068PTPN11c.950A>G (p.Lys317Arg)
c.836A>G (p.Lys279Arg)
c.947A>G (p.Lys316Arg)
 ClinVar
12g.112477873A>TCA386791069PTPN11c.950A>T (p.Lys317Met)
c.836A>T (p.Lys279Met)
c.947A>T (p.Lys316Met)
12g.112477874G>ACA6798691PTPN11c.951G>A (p.Lys317=)
c.837G>A (p.Lys279=)
c.948G>A (p.Lys316=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112477874G>CCA386791071PTPN11c.951G>C (p.Lys317Asn)
c.837G>C (p.Lys279Asn)
c.948G>C (p.Lys316Asn)
12g.112477874G=CA2063775941PTPN11c.951G= (p.Lys317=)
c.837G= (p.Lys279=)
c.948G= (p.Lys316=)
12g.112477874G>TCA386791073PTPN11c.951G>T (p.Lys317Asn)
c.837G>T (p.Lys279Asn)
c.948G>T (p.Lys316Asn)
12g.112477875T>ACA386791077PTPN11c.952T>A (p.Cys318Ser)
c.838T>A (p.Cys280Ser)
c.949T>A (p.Cys317Ser)
12g.112477875T>CCA386791084PTPN11c.952T>C (p.Cys318Arg)
c.838T>C (p.Cys280Arg)
c.949T>C (p.Cys317Arg)
12g.112477875T>GCA386791087PTPN11c.952T>G (p.Cys318Gly)
c.838T>G (p.Cys280Gly)
c.949T>G (p.Cys317Gly)
12g.112477876G>ACA6798692PTPN11c.953G>A (p.Cys318Tyr)
c.839G>A (p.Cys280Tyr)
c.950G>A (p.Cys317Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.112477876G>CCA386791092PTPN11c.953G>C (p.Cys318Ser)
c.839G>C (p.Cys280Ser)
c.950G>C (p.Cys317Ser)
 dbSNP
12g.112477876G=CA2063775942PTPN11c.953G= (p.Cys318=)
c.839G= (p.Cys280=)
c.950G= (p.Cys317=)
12g.112477876G>TCA386791093PTPN11c.953G>T (p.Cys318Phe)
c.839G>T (p.Cys280Phe)
c.950G>T (p.Cys317Phe)
12g.112477877C>ACA386791095PTPN11c.954C>A (p.Cys318Ter)
c.840C>A (p.Cys280Ter)
c.951C>A (p.Cys317Ter)
12g.112477877C>GCA386791097PTPN11c.954C>G (p.Cys318Trp)
c.840C>G (p.Cys280Trp)
c.951C>G (p.Cys317Trp)
12g.112477877C>TCA481887808PTPN11c.954C>T (p.Cys318=)
c.840C>T (p.Cys280=)
c.951C>T (p.Cys317=)
 dbSNP gnomAD v4
12g.112477878A=CA2063775943PTPN11c.955A= (p.Asn319=)
c.841A= (p.Asn281=)
c.952A= (p.Asn318=)
12g.112477878A>CCA386791099PTPN11c.955A>C (p.Asn319His)
c.841A>C (p.Asn281His)
c.952A>C (p.Asn318His)
12g.112477878A>GCA386791102PTPN11c.955A>G (p.Asn319Asp)
c.841A>G (p.Asn281Asp)
c.952A>G (p.Asn318Asp)
 ClinVar dbSNP gnomAD v4
12g.112477878A>TCA386791104PTPN11c.955A>T (p.Asn319Tyr)
c.841A>T (p.Asn281Tyr)
c.952A>T (p.Asn318Tyr)
 dbSNP
12g.112477879A=CA2063775944PTPN11c.956A= (p.Asn319=)
c.842A= (p.Asn281=)
c.953A= (p.Asn318=)
12g.112477879A>CCA386791108PTPN11c.956A>C (p.Asn319Thr)
c.842A>C (p.Asn281Thr)
c.953A>C (p.Asn318Thr)
12g.112477879A>GCA386791109PTPN11c.956A>G (p.Asn319Ser)
c.842A>G (p.Asn281Ser)
c.953A>G (p.Asn318Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.112477879A>TCA386791107PTPN11c.956A>T (p.Asn319Ile)
c.842A>T (p.Asn281Ile)
c.953A>T (p.Asn318Ile)
12g.112477880C>ACA386791110PTPN11c.957C>A (p.Asn319Lys)
c.843C>A (p.Asn281Lys)
c.954C>A (p.Asn318Lys)
12g.112477880C=CA2063775945PTPN11c.957C= (p.Asn319=)
c.843C= (p.Asn281=)
c.954C= (p.Asn318=)
12g.112477880C>GCA386791112PTPN11c.957C>G (p.Asn319Lys)
c.843C>G (p.Asn281Lys)
c.954C>G (p.Asn318Lys)
 dbSNP gnomAD v2 gnomAD v4
12g.112477880C>TCA6798693PTPN11c.957C>T (p.Asn319=)
c.843C>T (p.Asn281=)
c.954C>T (p.Asn318=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
12g.112477881A>CCA386791118PTPN11c.958A>C (p.Asn320His)
c.844A>C (p.Asn282His)
c.955A>C (p.Asn319His)
12g.112477881A>GCA386791119PTPN11c.958A>G (p.Asn320Asp)
c.844A>G (p.Asn282Asp)
c.955A>G (p.Asn319Asp)
 gnomAD v4
12g.112477881A>TCA386791122PTPN11c.958A>T (p.Asn320Tyr)
c.844A>T (p.Asn282Tyr)
c.955A>T (p.Asn319Tyr)
 gnomAD v4
12g.112477882A=CA2063775946PTPN11c.959A= (p.Asn320=)
c.845A= (p.Asn282=)
c.956A= (p.Asn319=)
12g.112477882A>CCA386791132PTPN11c.959A>C (p.Asn320Thr)
c.845A>C (p.Asn282Thr)
c.956A>C (p.Asn319Thr)
12g.112477882A>GCA386791125PTPN11c.959A>G (p.Asn320Ser)
c.845A>G (p.Asn282Ser)
c.956A>G (p.Asn319Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.112477882A>TCA386791129PTPN11c.959A>T (p.Asn320Ile)
c.845A>T (p.Asn282Ile)
c.956A>T (p.Asn319Ile)
12g.112477883T>ACA386791134PTPN11c.960T>A (p.Asn320Lys)
c.846T>A (p.Asn282Lys)
c.957T>A (p.Asn319Lys)
12g.112477883T>CCA481887821PTPN11c.960T>C (p.Asn320=)
c.846T>C (p.Asn282=)
c.957T>C (p.Asn319=)
12g.112477883T>GCA386791136PTPN11c.960T>G (p.Asn320Lys)
c.846T>G (p.Asn282Lys)
c.957T>G (p.Asn319Lys)
12g.112477884T>ACA386791139PTPN11c.961T>A (p.Ser321Thr)
c.847T>A (p.Ser283Thr)
c.958T>A (p.Ser320Thr)
 dbSNP
12g.112477884T>CCA386791144PTPN11c.961T>C (p.Ser321Pro)
c.847T>C (p.Ser283Pro)
c.958T>C (p.Ser320Pro)
12g.112477884T>GCA386791146PTPN11c.961T>G (p.Ser321Ala)
c.847T>G (p.Ser283Ala)
c.958T>G (p.Ser320Ala)
 gnomAD v4
12g.112477885C>ACA386791147PTPN11c.962C>A (p.Ser321Ter)
c.848C>A (p.Ser283Ter)
c.959C>A (p.Ser320Ter)
12g.112477885C>GCA386791152PTPN11c.962C>G (p.Ser321Ter)
c.848C>G (p.Ser283Ter)
c.959C>G (p.Ser320Ter)
12g.112477885C>TCA386791149PTPN11c.962C>T (p.Ser321Leu)
c.848C>T (p.Ser283Leu)
c.959C>T (p.Ser320Leu)
12g.112477886A>CCA481887826PTPN11c.963A>C (p.Ser321=)
c.849A>C (p.Ser283=)
c.960A>C (p.Ser320=)
12g.112477886A>GCA481887829PTPN11c.963A>G (p.Ser321=)
c.849A>G (p.Ser283=)
c.960A>G (p.Ser320=)
12g.112477886A>TCA481887827PTPN11c.963A>T (p.Ser321=)
c.849A>T (p.Ser283=)
c.960A>T (p.Ser320=)
12g.112477887A>CCA386791156PTPN11c.964A>C (p.Lys322Gln)
c.850A>C (p.Lys284Gln)
c.961A>C (p.Lys321Gln)
12g.112477887A>GCA386791157PTPN11c.964A>G (p.Lys322Glu)
c.850A>G (p.Lys284Glu)
c.961A>G (p.Lys321Glu)
12g.112477887A>TCA386791160PTPN11c.964A>T (p.Lys322Ter)
c.850A>T (p.Lys284Ter)
c.961A>T (p.Lys321Ter)
12g.112477888A>CCA386791163PTPN11c.965A>C (p.Lys322Thr)
c.851A>C (p.Lys284Thr)
c.962A>C (p.Lys321Thr)
12g.112477888A>GCA386791166PTPN11c.965A>G (p.Lys322Arg)
c.851A>G (p.Lys284Arg)
c.962A>G (p.Lys321Arg)
 ClinVar
12g.112477888A>TCA386791168PTPN11c.965A>T (p.Lys322Met)
c.851A>T (p.Lys284Met)
c.962A>T (p.Lys321Met)
12g.112477889G>ACA481887831PTPN11c.966G>A (p.Lys322=)
c.852G>A (p.Lys284=)
c.963G>A (p.Lys321=)
 COSMIC
12g.112477889G>CCA386791170PTPN11c.966G>C (p.Lys322Asn)
c.852G>C (p.Lys284Asn)
c.963G>C (p.Lys321Asn)
12g.112477889G>TCA386791172PTPN11c.966G>T (p.Lys322Asn)
c.852G>T (p.Lys284Asn)
c.963G>T (p.Lys321Asn)
12g.112477890C>ACA386791176PTPN11c.967C>A (p.Pro323Thr)
c.853C>A (p.Pro285Thr)
c.964C>A (p.Pro322Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.112477890C=CA2063775947PTPN11c.967C= (p.Pro323=)
c.853C= (p.Pro285=)
c.964C= (p.Pro322=)
12g.112477890C>GCA386791177PTPN11c.967C>G (p.Pro323Ala)
c.853C>G (p.Pro285Ala)
c.964C>G (p.Pro322Ala)
 dbSNP
12g.112477890C>TCA6798694PTPN11c.967C>T (p.Pro323Ser)
c.853C>T (p.Pro285Ser)
c.964C>T (p.Pro322Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.112477891C>ACA386791184PTPN11c.968C>A (p.Pro323His)
c.854C>A (p.Pro285His)
c.965C>A (p.Pro322His)
 dbSNP
12g.112477891C>GCA386791187PTPN11c.968C>G (p.Pro323Arg)
c.854C>G (p.Pro285Arg)
c.965C>G (p.Pro322Arg)
12g.112477891C>TCA386791185PTPN11c.968C>T (p.Pro323Leu)
c.854C>T (p.Pro285Leu)
c.965C>T (p.Pro322Leu)
12g.112477892C>ACA6798695PTPN11c.969C>A (p.Pro323=)
c.855C>A (p.Pro285=)
c.966C>A (p.Pro322=)
 dbSNP ExAC
12g.112477892C=CA2063775948PTPN11c.969C= (p.Pro323=)
c.855C= (p.Pro285=)
c.966C= (p.Pro322=)
12g.112477892C>GCA481887838PTPN11c.969C>G (p.Pro323=)
c.855C>G (p.Pro285=)
c.966C>G (p.Pro322=)
12g.112477892C>TCA481887840PTPN11c.969C>T (p.Pro323=)
c.855C>T (p.Pro285=)
c.966C>T (p.Pro322=)
12g.112477893A=CA2063775949PTPN11c.970A= (p.Lys324=)
c.856A= (p.Lys286=)
c.967A= (p.Lys323=)
12g.112477893A>CCA386791192PTPN11c.970A>C (p.Lys324Gln)
c.856A>C (p.Lys286Gln)
c.967A>C (p.Lys323Gln)
 dbSNP
12g.112477893A>GCA386791191PTPN11c.970A>G (p.Lys324Glu)
c.856A>G (p.Lys286Glu)
c.967A>G (p.Lys323Glu)
12g.112477893A>TCA386791193PTPN11c.970A>T (p.Lys324Ter)
c.856A>T (p.Lys286Ter)
c.967A>T (p.Lys323Ter)
12g.112477897delCA2727226228PTPN11c.974del (p.Lys325ArgfsTer14)
c.860del (p.Lys287ArgfsTer14)
c.971del (p.Lys324ArgfsTer14)
 dbSNP
12g.112477894A=CA2063775950PTPN11c.971A= (p.Lys324=)
c.857A= (p.Lys286=)
c.968A= (p.Lys323=)
12g.112477894A>CCA386791194PTPN11c.971A>C (p.Lys324Thr)
c.857A>C (p.Lys286Thr)
c.968A>C (p.Lys323Thr)
12g.112477894A>GCA6798696PTPN11c.971A>G (p.Lys324Arg)
c.857A>G (p.Lys286Arg)
c.968A>G (p.Lys323Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.112477894A>TCA386791195PTPN11c.971A>T (p.Lys324Ile)
c.857A>T (p.Lys286Ile)
c.968A>T (p.Lys323Ile)
12g.112477894_112477895insGCA2542875511PTPN11c.971_972insG (p.Ser326GlufsTer15)
c.857_858insG (p.Ser288GlufsTer15)
c.968_969insG (p.Ser325GlufsTer15)
12g.112477894_112477895insGAGTTACAAGTGCAACAATTCAAAGCA2580085816PTPN11c.971_972insGAGTTACAAGTGCAACAATTCAAAG (p.Lys325SerfsTer24)
c.857_858insGAGTTACAAGTGCAACAATTCAAAG (p.Lys287SerfsTer24)
c.968_969insGAGTTACAAGTGCAACAATTCAAAG (p.Lys324SerfsTer24)
 ClinVar
12g.112477895A>CCA386791196PTPN11c.972A>C (p.Lys324Asn)
c.858A>C (p.Lys286Asn)
c.969A>C (p.Lys323Asn)
 ClinVar
12g.112477895A>GCA481887844PTPN11c.972A>G (p.Lys324=)
c.858A>G (p.Lys286=)
c.969A>G (p.Lys323=)
12g.112477895A>TCA386791197PTPN11c.972A>T (p.Lys324Asn)
c.858A>T (p.Lys286Asn)
c.969A>T (p.Lys323Asn)
12g.112477895_112477896insGTTACAAGTGCAACAATTCAAAGCCA2547704546PTPN11c.972_973insGTTACAAGTGCAACAATTCAAAGC (p.Lys324_Lys325insValThrSerAlaThrIleGlnSer)
c.858_859insGTTACAAGTGCAACAATTCAAAGC (p.Lys286_Lys287insValThrSerAlaThrIleGlnSer)
c.969_970insGTTACAAGTGCAACAATTCAAAGC (p.Lys323_Lys324insValThrSerAlaThrIleGlnSer)
12g.112477896A>CCA386791198PTPN11c.973A>C (p.Lys325Gln)
c.859A>C (p.Lys287Gln)
c.970A>C (p.Lys324Gln)
12g.112477896A>GCA386791200PTPN11c.973A>G (p.Lys325Glu)
c.859A>G (p.Lys287Glu)
c.970A>G (p.Lys324Glu)
12g.112477896A>TCA386791201PTPN11c.973A>T (p.Lys325Ter)
c.859A>T (p.Lys287Ter)
c.970A>T (p.Lys324Ter)
12g.112477897A>CCA386791203PTPN11c.974A>C (p.Lys325Thr)
c.860A>C (p.Lys287Thr)
c.971A>C (p.Lys324Thr)
 COSMIC
12g.112477897A>GCA386791205PTPN11c.974A>G (p.Lys325Arg)
c.860A>G (p.Lys287Arg)
c.971A>G (p.Lys324Arg)
12g.112477897A>TCA386791208PTPN11c.974A>T (p.Lys325Met)
c.860A>T (p.Lys287Met)
c.971A>T (p.Lys324Met)
12g.112477898G>ACA481887853PTPN11c.975G>A (p.Lys325=)
c.861G>A (p.Lys287=)
c.972G>A (p.Lys324=)
12g.112477898G>CCA386791212PTPN11c.975G>C (p.Lys325Asn)
c.861G>C (p.Lys287Asn)
c.972G>C (p.Lys324Asn)
12g.112477898G>TCA386791213PTPN11c.975G>T (p.Lys325Asn)
c.861G>T (p.Lys287Asn)
c.972G>T (p.Lys324Asn)
12g.112477899A=CA2063775951PTPN11c.976A= (p.Ser326=)
c.862A= (p.Ser288=)
c.973A= (p.Ser325=)
12g.112477899A>CCA386791222PTPN11c.976A>C (p.Ser326Arg)
c.862A>C (p.Ser288Arg)
c.973A>C (p.Ser325Arg)
12g.112477899A>GCA386791218PTPN11c.976A>G (p.Ser326Gly)
c.862A>G (p.Ser288Gly)
c.973A>G (p.Ser325Gly)
 dbSNP gnomAD v3 gnomAD v4
12g.112477899A>TCA386791217PTPN11c.976A>T (p.Ser326Cys)
c.862A>T (p.Ser288Cys)
c.973A>T (p.Ser325Cys)
12g.112477900G>ACA386791225PTPN11c.977G>A (p.Ser326Asn)
c.863G>A (p.Ser288Asn)
c.974G>A (p.Ser325Asn)
 gnomAD v4
12g.112477900G>CCA386791226PTPN11c.977G>C (p.Ser326Thr)
c.863G>C (p.Ser288Thr)
c.974G>C (p.Ser325Thr)
12g.112477900G>TCA386791229PTPN11c.977G>T (p.Ser326Ile)
c.863G>T (p.Ser288Ile)
c.974G>T (p.Ser325Ile)
12g.112477901T>ACA386791232PTPN11c.978T>A (p.Ser326Arg)
c.864T>A (p.Ser288Arg)
c.975T>A (p.Ser325Arg)
12g.112477901T>CCA481887858PTPN11c.978T>C (p.Ser326=)
c.864T>C (p.Ser288=)
c.975T>C (p.Ser325=)
12g.112477901T>GCA386791234PTPN11c.978T>G (p.Ser326Arg)
c.864T>G (p.Ser288Arg)
c.975T>G (p.Ser325Arg)
12g.112477902T>ACA386791237PTPN11c.979T>A (p.Tyr327Asn)
c.865T>A (p.Tyr289Asn)
c.976T>A (p.Tyr326Asn)
12g.112477902T>CCA386791238PTPN11c.979T>C (p.Tyr327His)
c.865T>C (p.Tyr289His)
c.976T>C (p.Tyr326His)
12g.112477902T>GCA386791240PTPN11c.979T>G (p.Tyr327Asp)
c.865T>G (p.Tyr289Asp)
c.976T>G (p.Tyr326Asp)
12g.112477903A=CA2063775952PTPN11c.980A= (p.Tyr327=)
c.866A= (p.Tyr289=)
c.977A= (p.Tyr326=)
12g.112477903A>CCA386791243PTPN11c.980A>C (p.Tyr327Ser)
c.866A>C (p.Tyr289Ser)
c.977A>C (p.Tyr326Ser)
12g.112477903A>GCA243712018PTPN11c.980A>G (p.Tyr327Cys)
c.866A>G (p.Tyr289Cys)
c.977A>G (p.Tyr326Cys)
 dbSNP gnomAD v3 gnomAD v4
12g.112477903A>TCA386791248PTPN11c.980A>T (p.Tyr327Phe)
c.866A>T (p.Tyr289Phe)
c.977A>T (p.Tyr326Phe)
12g.112477904C>ACA386791255PTPN11c.981C>A (p.Tyr327Ter)
c.867C>A (p.Tyr289Ter)
c.978C>A (p.Tyr326Ter)
12g.112477904C>GCA386791251PTPN11c.981C>G (p.Tyr327Ter)
c.867C>G (p.Tyr289Ter)
c.978C>G (p.Tyr326Ter)
12g.112477904C>TCA481887860PTPN11c.981C>T (p.Tyr327=)
c.867C>T (p.Tyr289=)
c.978C>T (p.Tyr326=)
 dbSNP
12g.112477905A>CCA386791258PTPN11c.982A>C (p.Ile328Leu)
c.868A>C (p.Ile290Leu)
c.979A>C (p.Ile327Leu)
12g.112477905A>GCA386791263PTPN11c.982A>G (p.Ile328Val)
c.868A>G (p.Ile290Val)
c.979A>G (p.Ile327Val)
 gnomAD v4
12g.112477905A>TCA386791264PTPN11c.982A>T (p.Ile328Phe)
c.868A>T (p.Ile290Phe)
c.979A>T (p.Ile327Phe)
12g.112477906T>ACA386791267PTPN11c.983T>A (p.Ile328Asn)
c.869T>A (p.Ile290Asn)
c.980T>A (p.Ile327Asn)
12g.112477906T>CCA6798697PTPN11c.983T>C (p.Ile328Thr)
c.869T>C (p.Ile290Thr)
c.980T>C (p.Ile327Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112477906T>GCA386791270PTPN11c.983T>G (p.Ile328Ser)
c.869T>G (p.Ile290Ser)
c.980T>G (p.Ile327Ser)
12g.112477906T=CA2063775953PTPN11c.983T= (p.Ile328=)
c.869T= (p.Ile290=)
c.980T= (p.Ile327=)
12g.112477907T>ACA481887864PTPN11c.984T>A (p.Ile328=)
c.870T>A (p.Ile290=)
c.981T>A (p.Ile327=)
12g.112477907T>CCA481887862PTPN11c.984T>C (p.Ile328=)
c.870T>C (p.Ile290=)
c.981T>C (p.Ile327=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.112477907T>GCA386791274PTPN11c.984T>G (p.Ile328Met)
c.870T>G (p.Ile290Met)
c.981T>G (p.Ile327Met)
12g.112477907T=CA2063775954PTPN11c.984T= (p.Ile328=)
c.870T= (p.Ile290=)
c.981T= (p.Ile327=)
12g.112477908G>ACA6798698PTPN11c.985G>A (p.Ala329Thr)
c.871G>A (p.Ala291Thr)
c.982G>A (p.Ala328Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.112477908G>CCA386791278PTPN11c.985G>C (p.Ala329Pro)
c.871G>C (p.Ala291Pro)
c.982G>C (p.Ala328Pro)
12g.112477908G=CA2063775955PTPN11c.985G= (p.Ala329=)
c.871G= (p.Ala291=)
c.982G= (p.Ala328=)
12g.112477908G>TCA386791279PTPN11c.985G>T (p.Ala329Ser)
c.871G>T (p.Ala291Ser)
c.982G>T (p.Ala328Ser)
 gnomAD v4
12g.112477909C>ACA386791284PTPN11c.986C>A (p.Ala329Asp)
c.872C>A (p.Ala291Asp)
c.983C>A (p.Ala328Asp)
12g.112477909C=CA2063775956PTPN11c.986C= (p.Ala329=)
c.872C= (p.Ala291=)
c.983C= (p.Ala328=)
12g.112477909C>GCA386791285PTPN11c.986C>G (p.Ala329Gly)
c.872C>G (p.Ala291Gly)
c.983C>G (p.Ala328Gly)
12g.112477909C>TCA386791287PTPN11c.986C>T (p.Ala329Val)
c.872C>T (p.Ala291Val)
c.983C>T (p.Ala328Val)
 dbSNP
12g.112477910C>ACA481887866PTPN11c.987C>A (p.Ala329=)
c.873C>A (p.Ala291=)
c.984C>A (p.Ala328=)
 dbSNP
12g.112477910C>GCA481887867PTPN11c.987C>G (p.Ala329=)
c.873C>G (p.Ala291=)
c.984C>G (p.Ala328=)
12g.112477910C>TCA481887869PTPN11c.987C>T (p.Ala329=)
c.873C>T (p.Ala291=)
c.984C>T (p.Ala328=)
12g.112477911A>CCA386791295PTPN11c.988A>C (p.Thr330Pro)
c.874A>C (p.Thr292Pro)
c.985A>C (p.Thr329Pro)
12g.112477911A>GCA386791291PTPN11c.988A>G (p.Thr330Ala)
c.874A>G (p.Thr292Ala)
c.985A>G (p.Thr329Ala)
12g.112477911A>TCA386791294PTPN11c.988A>T (p.Thr330Ser)
c.874A>T (p.Thr292Ser)
c.985A>T (p.Thr329Ser)
12g.112477912C>ACA386791297PTPN11c.989C>A (p.Thr330Lys)
c.875C>A (p.Thr292Lys)
c.986C>A (p.Thr329Lys)
12g.112477912C>GCA386791300PTPN11c.989C>G (p.Thr330Arg)
c.875C>G (p.Thr292Arg)
c.986C>G (p.Thr329Arg)
12g.112477912C>TCA386791303PTPN11c.989C>T (p.Thr330Ile)
c.875C>T (p.Thr292Ile)
c.986C>T (p.Thr329Ile)
12g.112477913A=CA2063775957PTPN11c.990A= (p.Thr330=)
c.876A= (p.Thr292=)
c.987A= (p.Thr329=)
12g.112477913A>CCA282105PTPN11c.990A>C (p.Thr330=)
c.876A>C (p.Thr292=)
c.987A>C (p.Thr329=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112477913A>GCA481887872PTPN11c.990A>G (p.Thr330=)
c.876A>G (p.Thr292=)
c.987A>G (p.Thr329=)
12g.112477913A>TCA481887873PTPN11c.990A>T (p.Thr330=)
c.876A>T (p.Thr292=)
c.987A>T (p.Thr329=)
12g.112477914C>ACA386791308PTPN11c.991C>A (p.Gln331Lys)
c.877C>A (p.Gln293Lys)
c.988C>A (p.Gln330Lys)
12g.112477914C>GCA386791311PTPN11c.991C>G (p.Gln331Glu)
c.877C>G (p.Gln293Glu)
c.988C>G (p.Gln330Glu)
12g.112477914C>TCA386791313PTPN11c.991C>T (p.Gln331Ter)
c.877C>T (p.Gln293Ter)
c.988C>T (p.Gln330Ter)
 ClinVar dbSNP
12g.112477915A>CCA386791316PTPN11c.992A>C (p.Gln331Pro)
c.878A>C (p.Gln293Pro)
c.989A>C (p.Gln330Pro)
12g.112477915A>GCA386791319PTPN11c.992A>G (p.Gln331Arg)
c.878A>G (p.Gln293Arg)
c.989A>G (p.Gln330Arg)
12g.112477915A>TCA386791321PTPN11c.992A>T (p.Gln331Leu)
c.878A>T (p.Gln293Leu)
c.989A>T (p.Gln330Leu)
12g.112477916A>CCA386791322PTPN11c.993A>C (p.Gln331His)
c.879A>C (p.Gln293His)
c.990A>C (p.Gln330His)
12g.112477916A>GCA481887875PTPN11c.993A>G (p.Gln331=)
c.879A>G (p.Gln293=)
c.990A>G (p.Gln330=)
12g.112477916A>TCA386791324PTPN11c.993A>T (p.Gln331His)
c.879A>T (p.Gln293His)
c.990A>T (p.Gln330His)
12g.112477917G>ACA386791331PTPN11c.994G>A (p.Gly332Ser)
c.880G>A (p.Gly294Ser)
c.991G>A (p.Gly331Ser)
12g.112477917G>CCA386791333PTPN11c.994G>C (p.Gly332Arg)
c.880G>C (p.Gly294Arg)
c.991G>C (p.Gly331Arg)
12g.112477917G>TCA386791329PTPN11c.994G>T (p.Gly332Cys)
c.880G>T (p.Gly294Cys)
c.991G>T (p.Gly331Cys)
12g.112477918G>ACA386791341PTPN11c.995G>A (p.Gly332Asp)
c.881G>A (p.Gly294Asp)
c.992G>A (p.Gly331Asp)
 dbSNP
12g.112477918G>CCA386791337PTPN11c.995G>C (p.Gly332Ala)
c.881G>C (p.Gly294Ala)
c.992G>C (p.Gly331Ala)
 dbSNP
12g.112477918G>TCA386791339PTPN11c.995G>T (p.Gly332Val)
c.881G>T (p.Gly294Val)
c.992G>T (p.Gly331Val)
 dbSNP
12g.112477919C>ACA481887877PTPN11c.996C>A (p.Gly332=)
c.882C>A (p.Gly294=)
c.993C>A (p.Gly331=)
 gnomAD v4
12g.112477919C=CA2063775958PTPN11c.996C= (p.Gly332=)
c.882C= (p.Gly294=)
c.993C= (p.Gly331=)
12g.112477919C>GCA481887878PTPN11c.996C>G (p.Gly332=)
c.882C>G (p.Gly294=)
c.993C>G (p.Gly331=)
12g.112477919C>TCA282108PTPN11c.996C>T (p.Gly332=)
c.882C>T (p.Gly294=)
c.993C>T (p.Gly331=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.112477920T>ACA297091PTPN11c.997T>A (p.Cys333Ser)
c.883T>A (p.Cys295Ser)
c.994T>A (p.Cys332Ser)
 ClinVar dbSNP gnomAD v4
12g.112477920T>CCA386791347PTPN11c.997T>C (p.Cys333Arg)
c.883T>C (p.Cys295Arg)
c.994T>C (p.Cys332Arg)
12g.112477920T>GCA386791350PTPN11c.997T>G (p.Cys333Gly)
c.883T>G (p.Cys295Gly)
c.994T>G (p.Cys332Gly)
 gnomAD v4
12g.112477920T=CA2063775959PTPN11c.997T= (p.Cys333=)
c.883T= (p.Cys295=)
c.994T= (p.Cys332=)
12g.112477921G>ACA386791353PTPN11c.998G>A (p.Cys333Tyr)
c.884G>A (p.Cys295Tyr)
c.995G>A (p.Cys332Tyr)
 dbSNP
12g.112477921G>CCA386791356PTPN11c.998G>C (p.Cys333Ser)
c.884G>C (p.Cys295Ser)
c.995G>C (p.Cys332Ser)
12g.112477921G>TCA386791358PTPN11c.998G>T (p.Cys333Phe)
c.884G>T (p.Cys295Phe)
c.995G>T (p.Cys332Phe)
12g.112477922C>ACA386791359PTPN11c.999C>A (p.Cys333Ter)
c.885C>A (p.Cys295Ter)
c.996C>A (p.Cys332Ter)
 dbSNP
12g.112477922C>GCA386791362PTPN11c.999C>G (p.Cys333Trp)
c.885C>G (p.Cys295Trp)
c.996C>G (p.Cys332Trp)
12g.112477922C>TCA481887880PTPN11c.999C>T (p.Cys333=)
c.885C>T (p.Cys295=)
c.996C>T (p.Cys332=)
 dbSNP gnomAD v4
12g.112477923C>ACA386791364PTPN11c.1000C>A (p.Leu334Met)
c.886C>A (p.Leu296Met)
c.997C>A (p.Leu333Met)
12g.112477923C>GCA386791366PTPN11c.1000C>G (p.Leu334Val)
c.886C>G (p.Leu296Val)
c.997C>G (p.Leu333Val)
12g.112477923C>TCA481887881PTPN11c.1000C>T (p.Leu334=)
c.886C>T (p.Leu296=)
c.997C>T (p.Leu333=)
 COSMIC
12g.112477924T>ACA386791368PTPN11c.1001T>A (p.Leu334Gln)
c.887T>A (p.Leu296Gln)
c.998T>A (p.Leu333Gln)
 dbSNP
12g.112477924T>CCA386791373PTPN11c.1001T>C (p.Leu334Pro)
c.887T>C (p.Leu296Pro)
c.998T>C (p.Leu333Pro)
12g.112477924T>GCA386791371PTPN11c.1001T>G (p.Leu334Arg)
c.887T>G (p.Leu296Arg)
c.998T>G (p.Leu333Arg)
12g.112477924T=CA2063775960PTPN11c.1001T= (p.Leu334=)
c.887T= (p.Leu296=)
c.998T= (p.Leu333=)
12g.112477925G>ACA481887883PTPN11c.1002G>A (p.Leu334=)
c.888G>A (p.Leu296=)
c.999G>A (p.Leu333=)
 dbSNP
12g.112477925G>CCA481887884PTPN11c.1002G>C (p.Leu334=)
c.888G>C (p.Leu296=)
c.999G>C (p.Leu333=)
12g.112477925G=CA2063775961PTPN11c.1002G= (p.Leu334=)
c.888G= (p.Leu296=)
c.999G= (p.Leu333=)
12g.112477925G>TCA481887885PTPN11c.1002G>T (p.Leu334=)
c.888G>T (p.Leu296=)
c.999G>T (p.Leu333=)
 dbSNP gnomAD v4
12g.112477926C>ACA386791375PTPN11c.1003C>A (p.Gln335Lys)
c.889C>A (p.Gln297Lys)
c.1000C>A (p.Gln334Lys)
12g.112477926C>GCA386791376PTPN11c.1003C>G (p.Gln335Glu)
c.889C>G (p.Gln297Glu)
c.1000C>G (p.Gln334Glu)
12g.112477926C>TCA386791378PTPN11c.1003C>T (p.Gln335Ter)
c.889C>T (p.Gln297Ter)
c.1000C>T (p.Gln334Ter)
 dbSNP
12g.112477927A=CA2063775962PTPN11c.1004A= (p.Gln335=)
c.890A= (p.Gln297=)
c.1001A= (p.Gln334=)
12g.112477927A>CCA10603230PTPN11c.1004A>C (p.Gln335Pro)
c.890A>C (p.Gln297Pro)
c.1001A>C (p.Gln334Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.112477927A>GCA386791381PTPN11c.1004A>G (p.Gln335Arg)
c.890A>G (p.Gln297Arg)
c.1001A>G (p.Gln334Arg)
12g.112477927A>TCA386791382PTPN11c.1004A>T (p.Gln335Leu)
c.890A>T (p.Gln297Leu)
c.1001A>T (p.Gln334Leu)
12g.112477930delCA2621024669PTPN11c.1007del (p.Asn336ThrfsTer3)
c.893del (p.Asn298ThrfsTer3)
c.1004del (p.Asn335ThrfsTer3)
 gnomAD v4
12g.112477928A>CCA386791384PTPN11c.1005A>C (p.Gln335His)
c.891A>C (p.Gln297His)
c.1002A>C (p.Gln334His)
12g.112477928A>GCA481887888PTPN11c.1005A>G (p.Gln335=)
c.891A>G (p.Gln297=)
c.1002A>G (p.Gln334=)
 gnomAD v4
12g.112477928A>TCA386791386PTPN11c.1005A>T (p.Gln335His)
c.891A>T (p.Gln297His)
c.1002A>T (p.Gln334His)
12g.112477929A>CCA386791388PTPN11c.1006A>C (p.Asn336His)
c.892A>C (p.Asn298His)
c.1003A>C (p.Asn335His)
12g.112477929A>GCA386791389PTPN11c.1006A>G (p.Asn336Asp)
c.892A>G (p.Asn298Asp)
c.1003A>G (p.Asn335Asp)
12g.112477929A>TCA386791391PTPN11c.1006A>T (p.Asn336Tyr)
c.892A>T (p.Asn298Tyr)
c.1003A>T (p.Asn335Tyr)
12g.112477930A>CCA386791395PTPN11c.1007A>C (p.Asn336Thr)
c.893A>C (p.Asn298Thr)
c.1004A>C (p.Asn335Thr)
12g.112477930A>GCA386791396PTPN11c.1007A>G (p.Asn336Ser)
c.893A>G (p.Asn298Ser)
c.1004A>G (p.Asn335Ser)
12g.112477930A>TCA386791393PTPN11c.1007A>T (p.Asn336Ile)
c.893A>T (p.Asn298Ile)
c.1004A>T (p.Asn335Ile)
12g.112477931C>ACA386791398PTPN11c.1008C>A (p.Asn336Lys)
c.894C>A (p.Asn298Lys)
c.1005C>A (p.Asn335Lys)
12g.112477931C=CA2063775963PTPN11c.1008C= (p.Asn336=)
c.894C= (p.Asn298=)
c.1005C= (p.Asn335=)
12g.112477931C>GCA386791400PTPN11c.1008C>G (p.Asn336Lys)
c.894C>G (p.Asn298Lys)
c.1005C>G (p.Asn335Lys)
12g.112477931C>TCA481887890PTPN11c.1008C>T (p.Asn336=)
c.894C>T (p.Asn298=)
c.1005C>T (p.Asn335=)
 ClinVar dbSNP
12g.112477932A>CCA386791403PTPN11c.1009A>C (p.Thr337Pro)
c.895A>C (p.Thr299Pro)
c.1A>C (p.Thr1Pro)
c.1006A>C (p.Thr336Pro)
12g.112477932A>GCA386791405PTPN11c.1009A>G (p.Thr337Ala)
c.895A>G (p.Thr299Ala)
c.1A>G (p.Thr1Ala)
c.1006A>G (p.Thr336Ala)
12g.112477932A>TCA386791407PTPN11c.1009A>T (p.Thr337Ser)
c.895A>T (p.Thr299Ser)
c.1A>T (p.Thr1Ser)
c.1006A>T (p.Thr336Ser)
12g.112477933C>ACA386791409PTPN11c.1010C>A (p.Thr337Lys)
c.896C>A (p.Thr299Lys)
c.2C>A (p.Thr1Lys)
c.1007C>A (p.Thr336Lys)
 dbSNP
12g.112477933C=CA2063775964PTPN11c.1010C= (p.Thr337=)
c.896C= (p.Thr299=)
c.2C= (p.Thr1=)
c.1007C= (p.Thr336=)
12g.112477933C>GCA386791411PTPN11c.1010C>G (p.Thr337Arg)
c.896C>G (p.Thr299Arg)
c.2C>G (p.Thr1Arg)
c.1007C>G (p.Thr336Arg)
12g.112477933C>TCA243712024PTPN11c.1010C>T (p.Thr337Met)
c.896C>T (p.Thr299Met)
c.2C>T (p.Thr1Met)
c.1007C>T (p.Thr336Met)
 dbSNP
12g.112477934G>ACA6798699PTPN11c.1011G>A (p.Thr337=)
c.897G>A (p.Thr299=)
c.3G>A (p.Thr1=)
c.1008G>A (p.Thr336=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112477934G>CCA6798700PTPN11c.1011G>C (p.Thr337=)
c.897G>C (p.Thr299=)
c.3G>C (p.Thr1=)
c.1008G>C (p.Thr336=)
 ClinVar dbSNP ExAC gnomAD v2
12g.112477934G=CA2063775965PTPN11c.1011G= (p.Thr337=)
c.897G= (p.Thr299=)
c.3G= (p.Thr1=)
c.1008G= (p.Thr336=)
12g.112477934G>TCA481887894PTPN11c.1011G>T (p.Thr337=)
c.897G>T (p.Thr299=)
c.3G>T (p.Thr1=)
c.1008G>T (p.Thr336=)
12g.112477935G>ACA386791415PTPN11c.1012G>A (p.Val338Met)
c.898G>A (p.Val300Met)
c.4G>A (p.Val2Met)
c.1009G>A (p.Val337Met)
12g.112477935G>CCA386791416PTPN11c.1012G>C (p.Val338Leu)
c.898G>C (p.Val300Leu)
c.4G>C (p.Val2Leu)
c.1009G>C (p.Val337Leu)
12g.112477935G>TCA386791418PTPN11c.1012G>T (p.Val338Leu)
c.898G>T (p.Val300Leu)
c.4G>T (p.Val2Leu)
c.1009G>T (p.Val337Leu)
12g.112477936T>ACA386791425PTPN11c.1013T>A (p.Val338Glu)
c.899T>A (p.Val300Glu)
c.5T>A (p.Val2Glu)
c.1010T>A (p.Val337Glu)
12g.112477936T>CCA386791423PTPN11c.1013T>C (p.Val338Ala)
c.899T>C (p.Val300Ala)
c.5T>C (p.Val2Ala)
c.1010T>C (p.Val337Ala)
12g.112477936T>GCA386791421PTPN11c.1013T>G (p.Val338Gly)
c.899T>G (p.Val300Gly)
c.5T>G (p.Val2Gly)
c.1010T>G (p.Val337Gly)
12g.112477937G>ACA481887958PTPN11c.1014G>A (p.Val338=)
c.900G>A (p.Val300=)
c.6G>A (p.Val2=)
c.1011G>A (p.Val337=)
 dbSNP
12g.112477937G>CCA481887959PTPN11c.1014G>C (p.Val338=)
c.900G>C (p.Val300=)
c.6G>C (p.Val2=)
c.1011G>C (p.Val337=)
12g.112477937G=CA2063775966PTPN11c.1014G= (p.Val338=)
c.900G= (p.Val300=)
c.6G= (p.Val2=)
c.1011G= (p.Val337=)
12g.112477937G>TCA481887960PTPN11c.1014G>T (p.Val338=)
c.900G>T (p.Val300=)
c.6G>T (p.Val2=)
c.1011G>T (p.Val337=)

Number of alleles fetched