Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.112477796C>ACA2727226091PTPN11c.934-61C>A (n.934-61C>A)
c.820-61C>A (n.820-61C>A)
c.931-61C>A (n.931-61C>A)
 dbSNP
12g.112477796C>TCA2575298975PTPN11c.934-61C>T (n.934-61C>T)
c.820-61C>T (n.820-61C>T)
c.931-61C>T (n.931-61C>T)
 gnomAD v4
12g.112477797T>CCA2727226092PTPN11c.934-60T>C (n.934-60T>C)
c.820-60T>C (n.820-60T>C)
c.931-60T>C (n.931-60T>C)
 dbSNP
12g.112477798T>ACA2695217420PTPN11c.934-59T>A (n.934-59T>A)
c.820-59T>A (n.820-59T>A)
c.931-59T>A (n.931-59T>A)
12g.112477798T>CCA2575298976PTPN11c.934-59T>C (n.934-59T>C)
c.820-59T>C (n.820-59T>C)
c.931-59T>C (n.931-59T>C)
12g.112477799C>ACA2727226094PTPN11c.934-58C>A (n.934-58C>A)
c.820-58C>A (n.820-58C>A)
c.931-58C>A (n.931-58C>A)
 dbSNP
12g.112477799C>GCA2727226097PTPN11c.934-58C>G (n.934-58C>G)
c.820-58C>G (n.820-58C>G)
c.931-58C>G (n.931-58C>G)
 dbSNP
12g.112477799C>TCA2727226093PTPN11c.934-58C>T (n.934-58C>T)
c.820-58C>T (n.820-58C>T)
c.931-58C>T (n.931-58C>T)
 dbSNP
12g.112477800C>ACA2727059367PTPN11c.934-57C>A (n.934-57C>A)
c.820-57C>A (n.820-57C>A)
c.931-57C>A (n.931-57C>A)
 dbSNP
12g.112477800C=CA2063775871PTPN11c.934-57C= (n.934-57C=)
c.820-57C= (n.820-57C=)
c.931-57C= (n.931-57C=)
12g.112477800C>TCA243711978PTPN11c.934-57C>T (n.934-57C>T)
c.820-57C>T (n.820-57C>T)
c.931-57C>T (n.931-57C>T)
 dbSNP gnomAD v4
12g.112477802C>GCA2621024645PTPN11c.934-55C>G (n.934-55C>G)
c.820-55C>G (n.820-55C>G)
c.931-55C>G (n.931-55C>G)
 gnomAD v4
12g.112477802C>TCA2621024646PTPN11c.934-55C>T (n.934-55C>T)
c.820-55C>T (n.820-55C>T)
c.931-55C>T (n.931-55C>T)
 gnomAD v4
12g.112477805G>CCA2063775874PTPN11c.934-52G>C (n.934-52G>C)
c.820-52G>C (n.820-52G>C)
c.931-52G>C (n.931-52G>C)
 dbSNP
12g.112477805G=CA2063775873PTPN11c.934-52G= (n.934-52G=)
c.820-52G= (n.820-52G=)
c.931-52G= (n.931-52G=)
12g.112477807C>ACA6798683PTPN11c.934-50C>A (n.934-50C>A)
c.820-50C>A (n.820-50C>A)
c.931-50C>A (n.931-50C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.112477807C=CA2063775875PTPN11c.934-50C= (n.934-50C=)
c.820-50C= (n.820-50C=)
c.931-50C= (n.931-50C=)
12g.112477809T>GCA607604976PTPN11c.934-48T>G (n.934-48T>G)
c.820-48T>G (n.820-48T>G)
c.931-48T>G (n.931-48T>G)
 dbSNP gnomAD v2 gnomAD v4
12g.112477809T=CA2063775878PTPN11c.934-48T= (n.934-48T=)
c.820-48T= (n.820-48T=)
c.931-48T= (n.931-48T=)
12g.112477810G>TCA2575298979PTPN11c.934-47G>T (n.934-47G>T)
c.820-47G>T (n.820-47G>T)
c.931-47G>T (n.931-47G>T)
12g.112477811A=CA2063775880PTPN11c.934-46A= (n.934-46A=)
c.820-46A= (n.820-46A=)
c.931-46A= (n.931-46A=)
12g.112477811A>GCA243711983PTPN11c.934-46A>G (n.934-46A>G)
c.820-46A>G (n.820-46A>G)
c.931-46A>G (n.931-46A>G)
 dbSNP gnomAD v2 gnomAD v4
12g.112477814G>ACA2621024647PTPN11c.934-43G>A (n.934-43G>A)
c.820-43G>A (n.820-43G>A)
c.931-43G>A (n.931-43G>A)
 gnomAD v4
12g.112477815T>CCA2621024648PTPN11c.934-42T>C (n.934-42T>C)
c.820-42T>C (n.820-42T>C)
c.931-42T>C (n.931-42T>C)
 gnomAD v4
12g.112477816A>TCA2575298980PTPN11c.934-41A>T (n.934-41A>T)
c.820-41A>T (n.820-41A>T)
c.931-41A>T (n.931-41A>T)
12g.112477817A>GCA2575298982PTPN11c.934-40A>G (n.934-40A>G)
c.820-40A>G (n.820-40A>G)
c.931-40A>G (n.931-40A>G)
12g.112477818C=CA2063775885PTPN11c.934-39C= (n.934-39C=)
c.820-39C= (n.820-39C=)
c.931-39C= (n.931-39C=)
12g.112477818C>GCA2621024649PTPN11c.934-39C>G (n.934-39C>G)
c.820-39C>G (n.820-39C>G)
c.931-39C>G (n.931-39C>G)
 gnomAD v4
12g.112477818C>TCA683695840PTPN11c.934-39C>T (n.934-39C>T)
c.820-39C>T (n.820-39C>T)
c.931-39C>T (n.931-39C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.112477818_112477819delinsCTCA2063775883PTPN11c.934-39_934-38delinsCT (n.934-39_934-38delinsCT)
c.820-39_820-38delinsCT (n.820-39_820-38delinsCT)
c.931-39_931-38delinsCT (n.931-39_931-38delinsCT)
12g.112477821delCA6798684PTPN11c.934-36del (n.934-36del)
c.820-36del (n.820-36del)
c.931-36del (n.931-36del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112477821T>CCA2621024650PTPN11c.934-36T>C (n.934-36T>C)
c.820-36T>C (n.820-36T>C)
c.931-36T>C (n.931-36T>C)
 gnomAD v4
12g.112477822A>CCA2575298984PTPN11c.934-35A>C (n.934-35A>C)
c.820-35A>C (n.820-35A>C)
c.931-35A>C (n.931-35A>C)
12g.112477824G>ACA2063775891PTPN11c.934-33G>A (n.934-33G>A)
c.820-33G>A (n.820-33G>A)
c.931-33G>A (n.931-33G>A)
 dbSNP
12g.112477824G=CA2063775890PTPN11c.934-33G= (n.934-33G=)
c.820-33G= (n.820-33G=)
c.931-33G= (n.931-33G=)
12g.112477824G>TCA2621024651PTPN11c.934-33G>T (n.934-33G>T)
c.820-33G>T (n.820-33G>T)
c.931-33G>T (n.931-33G>T)
 gnomAD v4
12g.112477825G>ACA6798685PTPN11c.934-32G>A (n.934-32G>A)
c.820-32G>A (n.820-32G>A)
c.931-32G>A (n.931-32G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112477825G=CA2063775893PTPN11c.934-32G= (n.934-32G=)
c.820-32G= (n.820-32G=)
c.931-32G= (n.931-32G=)
12g.112477825G>TCA2575298987PTPN11c.934-32G>T (n.934-32G>T)
c.820-32G>T (n.820-32G>T)
c.931-32G>T (n.931-32G>T)
 dbSNP
12g.112477828T>ACA2621024652PTPN11c.934-29T>A (n.934-29T>A)
c.820-29T>A (n.820-29T>A)
c.931-29T>A (n.931-29T>A)
 gnomAD v4
12g.112477831G>ACA2621024653PTPN11c.934-26G>A (n.934-26G>A)
c.820-26G>A (n.820-26G>A)
c.931-26G>A (n.931-26G>A)
 gnomAD v4
12g.112477831G>TCA2621024654PTPN11c.934-26G>T (n.934-26G>T)
c.820-26G>T (n.820-26G>T)
c.931-26G>T (n.931-26G>T)
 gnomAD v4
12g.112477833A=CA2063775895PTPN11c.934-24A= (n.934-24A=)
c.820-24A= (n.820-24A=)
c.931-24A= (n.931-24A=)
12g.112477833A>CCA2621024655PTPN11c.934-24A>C (n.934-24A>C)
c.820-24A>C (n.820-24A>C)
c.931-24A>C (n.931-24A>C)
 gnomAD v4
12g.112477833A>GCA6798686PTPN11c.934-24A>G (n.934-24A>G)
c.820-24A>G (n.820-24A>G)
c.931-24A>G (n.931-24A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112477834G>ACA243711990PTPN11c.934-23G>A (n.934-23G>A)
c.820-23G>A (n.820-23G>A)
c.931-23G>A (n.931-23G>A)
 dbSNP gnomAD v3 gnomAD v4
12g.112477834G>CCA2727070186PTPN11c.934-23G>C (n.934-23G>C)
c.820-23G>C (n.820-23G>C)
c.931-23G>C (n.931-23G>C)
 dbSNP
12g.112477834G=CA2063775898PTPN11c.934-23G= (n.934-23G=)
c.820-23G= (n.820-23G=)
c.931-23G= (n.931-23G=)
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)

Number of alleles fetched