Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)

Number of alleles fetched