Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.112450385G>ACA354979PTPN11c.205G>A (p.Glu69Lys)
c.202G>A (p.Glu68Lys)
ClinVar dbSNP COSMIC
12g.112450385G>CCA261565PTPN11c.205G>C (p.Glu69Gln)
c.202G>C (p.Glu68Gln)
ClinVar dbSNP ExAC COSMIC
12g.112450385G=CA2063740146PTPN11c.205G= (p.Glu69=)
c.202G= (p.Glu68=)
12g.112450385G>TCA386777753PTPN11c.205G>T (p.Glu69Ter)
c.202G>T (p.Glu68Ter)
12g.112450386A=CA2063740153PTPN11c.206A= (p.Glu69=)
c.203A= (p.Glu68=)
12g.112450386A>CCA386777758PTPN11c.206A>C (p.Glu69Ala)
c.203A>C (p.Glu68Ala)
ClinVar
12g.112450386A>GCA386777771PTPN11c.206A>G (p.Glu69Gly)
c.203A>G (p.Glu68Gly)
dbSNP
12g.112450386A>TCA177668PTPN11c.206A>T (p.Glu69Val)
c.203A>T (p.Glu68Val)
ClinVar dbSNP COSMIC
12g.112450387G>ACA481881785PTPN11c.207G>A (p.Glu69=)
c.204G>A (p.Glu68=)
dbSNP
12g.112450387G>CCA386777775PTPN11c.207G>C (p.Glu69Asp)
c.204G>C (p.Glu68Asp)
dbSNP
12g.112450387G>TCA386777778PTPN11c.207G>T (p.Glu69Asp)
c.204G>T (p.Glu68Asp)
dbSNP
12g.112450388A>CCA386777781PTPN11c.208A>C (p.Lys70Gln)
c.205A>C (p.Lys69Gln)
12g.112450388A>GCA386777784PTPN11c.208A>G (p.Lys70Glu)
c.205A>G (p.Lys69Glu)
12g.112450388A>TCA386777786PTPN11c.208A>T (p.Lys70Ter)
c.205A>T (p.Lys69Ter)
COSMIC
12g.112450389A=CA2063740160PTPN11c.209A= (p.Lys70=)
c.206A= (p.Lys69=)
12g.112450389A>CCA386777791PTPN11c.209A>C (p.Lys70Thr)
c.206A>C (p.Lys69Thr)
12g.112450389A>GCA261568PTPN11c.209A>G (p.Lys70Arg)
c.206A>G (p.Lys69Arg)
ClinVar dbSNP gnomAD v4
12g.112450389A>TCA386777795PTPN11c.209A>T (p.Lys70Ile)
c.206A>T (p.Lys69Ile)
12g.112450390A>CCA386777799PTPN11c.210A>C (p.Lys70Asn)
c.207A>C (p.Lys69Asn)
12g.112450390A>GCA481881787PTPN11c.210A>G (p.Lys70=)
c.207A>G (p.Lys69=)
ClinVar
12g.112450390A>TCA386777801PTPN11c.210A>T (p.Lys70Asn)
c.207A>T (p.Lys69Asn)
dbSNP
12g.112450391T>ACA386777804PTPN11c.211T>A (p.Phe71Ile)
c.208T>A (p.Phe70Ile)
dbSNP
12g.112450391T>CCA273215PTPN11c.211T>C (p.Phe71Leu)
c.208T>C (p.Phe70Leu)
ClinVar dbSNP gnomAD v4 COSMIC
12g.112450391T>GCA297073PTPN11c.211T>G (p.Phe71Val)
c.208T>G (p.Phe70Val)
ClinVar dbSNP
12g.112450391T=CA2063740165PTPN11c.211T= (p.Phe71=)
c.208T= (p.Phe70=)
12g.112450391_112450393delinsAAACA645580457PTPN11c.211_213delinsAAA (p.Phe71Lys)
c.208_210delinsAAA (p.Phe70Lys)
COSMIC
12g.112450392T>ACA386777826PTPN11c.212T>A (p.Phe71Tyr)
c.209T>A (p.Phe70Tyr)
dbSNP
12g.112450392T>CCA386777828PTPN11c.212T>C (p.Phe71Ser)
c.209T>C (p.Phe70Ser)
12g.112450392T>GCA6798531PTPN11c.212T>G (p.Phe71Cys)
c.209T>G (p.Phe70Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.112450392T=CA2063740170PTPN11c.212T= (p.Phe71=)
c.209T= (p.Phe70=)
12g.112450393T>ACA386777846PTPN11c.213T>A (p.Phe71Leu)
c.210T>A (p.Phe70Leu)
ClinVar dbSNP COSMIC
12g.112450393T>CCA481881789PTPN11c.213T>C (p.Phe71=)
c.210T>C (p.Phe70=)
dbSNP
12g.112450393T>GCA386777847PTPN11c.213T>G (p.Phe71Leu)
c.210T>G (p.Phe70Leu)
ClinVar dbSNP COSMIC
12g.112450393T=CA2063740176PTPN11c.213T= (p.Phe71=)
c.210T= (p.Phe70=)
12g.112450394G>ACA180706PTPN11c.214G>A (p.Ala72Thr)
c.211G>A (p.Ala71Thr)
ClinVar dbSNP COSMIC
12g.112450394G>CCA261571PTPN11c.214G>C (p.Ala72Pro)
c.211G>C (p.Ala71Pro)
ClinVar dbSNP
12g.112450394G=CA2063740190PTPN11c.214G= (p.Ala72=)
c.211G= (p.Ala71=)
12g.112450394G>TCA256749PTPN11c.214G>T (p.Ala72Ser)
c.211G>T (p.Ala71Ser)
ClinVar dbSNP gnomAD v4 COSMIC
12g.112450395C>ACA16602941PTPN11c.215C>A (p.Ala72Asp)
c.212C>A (p.Ala71Asp)
ClinVar dbSNP COSMIC
12g.112450395C=CA2063740202PTPN11c.215C= (p.Ala72=)
c.212C= (p.Ala71=)
12g.112450395C>GCA235319PTPN11c.215C>G (p.Ala72Gly)
c.212C>G (p.Ala71Gly)
ClinVar dbSNP COSMIC
12g.112450395C>TCA215451PTPN11c.215C>T (p.Ala72Val)
c.212C>T (p.Ala71Val)
ClinVar dbSNP COSMIC
12g.112450395_112450396delinsTTCA645580458PTPN11c.215_216delinsTT (p.Ala72Val)
c.212_213delinsTT (p.Ala71Val)
COSMIC
12g.112450396C>ACA481881792PTPN11c.216C>A (p.Ala72=)
c.213C>A (p.Ala71=)
12g.112450396C=CA2063740207PTPN11c.216C= (p.Ala72=)
c.213C= (p.Ala71=)
12g.112450396C>GCA481881793PTPN11c.216C>G (p.Ala72=)
c.213C>G (p.Ala71=)
12g.112450396C>TCA6798532PTPN11c.216C>T (p.Ala72=)
c.213C>T (p.Ala71=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.112450397A=CA2063740214PTPN11c.217A= (p.Thr73=)
c.214A= (p.Thr72=)
12g.112450397A>CCA282079PTPN11c.217A>C (p.Thr73Pro)
c.214A>C (p.Thr72Pro)
ClinVar dbSNP
12g.112450397A>GCA386777857PTPN11c.217A>G (p.Thr73Ala)
c.214A>G (p.Thr72Ala)
ClinVar gnomAD v4

Number of alleles fetched