Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.112453335G>ACA386781588PTPN11c.473G>A (p.Gly158Glu)
c.7G>A
c.470G>A (p.Gly157Glu)
 dbSNP gnomAD v4
12g.112453335G>CCA386781600PTPN11c.473G>C (p.Gly158Ala)
c.7G>C
c.470G>C (p.Gly157Ala)
 ClinVar dbSNP
12g.112453335G=CA2063743530PTPN11c.473G= (p.Gly158=)
c.7G=
c.470G= (p.Gly157=)
12g.112453335G>TCA386781602PTPN11c.473G>T (p.Gly158Val)
c.7G>T
c.470G>T (p.Gly157Val)
 ClinVar
12g.112453336G>ACA481882772PTPN11c.474G>A (p.Gly158=)
c.8G>A
c.471G>A (p.Gly157=)
12g.112453336G>CCA481882764PTPN11c.474G>C (p.Gly158=)
c.8G>C
c.471G>C (p.Gly157=)
12g.112453336G>TCA481882766PTPN11c.474G>T (p.Gly158=)
c.8G>T
c.471G>T (p.Gly157=)
12g.112453336_112453337insACA2727221569PTPN11c.474_475insA (p.Glu159ArgfsTer4)
c.8_9insA
c.471_472insA (p.Glu158ArgfsTer4)
 dbSNP
12g.112453337G>ACA386781617PTPN11c.475G>A (p.Glu159Lys)
c.9G>A
c.472G>A (p.Glu158Lys)
 dbSNP
12g.112453337G>CCA386781618PTPN11c.475G>C (p.Glu159Gln)
c.9G>C
c.472G>C (p.Glu158Gln)
 dbSNP
12g.112453337G>TCA386781621PTPN11c.475G>T (p.Glu159Ter)
c.9G>T
c.472G>T (p.Glu158Ter)
12g.112453338A>CCA386781632PTPN11c.476A>C (p.Glu159Ala)
c.10A>C
c.473A>C (p.Glu158Ala)
12g.112453338A>GCA386781629PTPN11c.476A>G (p.Glu159Gly)
c.10A>G
c.473A>G (p.Glu158Gly)
 dbSNP
12g.112453338A>TCA386781626PTPN11c.476A>T (p.Glu159Val)
c.10A>T
c.473A>T (p.Glu158Val)
12g.112453339G>ACA481882784PTPN11c.477G>A (p.Glu159=)
c.11G>A
c.474G>A (p.Glu158=)
 dbSNP
12g.112453339G>CCA6798553PTPN11c.477G>C (p.Glu159Asp)
c.11G>C
c.474G>C (p.Glu158Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.112453339G=CA2063743534PTPN11c.477G= (p.Glu159=)
c.11G=
c.474G= (p.Glu158=)
12g.112453339G>TCA386781643PTPN11c.477G>T (p.Glu159Asp)
c.11G>T
c.474G>T (p.Glu158Asp)
12g.112453340A>CCA386781655PTPN11c.478A>C (p.Ser160Arg)
c.12A>C
c.475A>C (p.Ser159Arg)
12g.112453340A>GCA386781657PTPN11c.478A>G (p.Ser160Gly)
c.12A>G
c.475A>G (p.Ser159Gly)
12g.112453340A>TCA386781659PTPN11c.478A>T (p.Ser160Cys)
c.12A>T
c.475A>T (p.Ser159Cys)
12g.112453341G>ACA243708217PTPN11c.479G>A (p.Ser160Asn)
c.13G>A
c.476G>A (p.Ser159Asn)
 ClinVar dbSNP
12g.112453341G>CCA386781662PTPN11c.479G>C (p.Ser160Thr)
c.13G>C
c.476G>C (p.Ser159Thr)
 dbSNP
12g.112453341G=CA2063743539PTPN11c.479G= (p.Ser160=)
c.13G=
c.476G= (p.Ser159=)
12g.112453341G>TCA386781666PTPN11c.479G>T (p.Ser160Ile)
c.13G>T
c.476G>T (p.Ser159Ile)
 gnomAD v4
12g.112453342C>ACA386781671PTPN11c.480C>A (p.Ser160Arg)
c.14C>A
c.477C>A (p.Ser159Arg)
 dbSNP
12g.112453342C>GCA386781672PTPN11c.480C>G (p.Ser160Arg)
c.14C>G
c.477C>G (p.Ser159Arg)
 dbSNP
12g.112453342C>TCA481882787PTPN11c.480C>T (p.Ser160=)
c.14C>T
c.477C>T (p.Ser159=)
 dbSNP
12g.112453343A>CCA386781673PTPN11c.481A>C (p.Asn161His)
c.15A>C
c.478A>C (p.Asn160His)
12g.112453343A>GCA386781675PTPN11c.481A>G (p.Asn161Asp)
c.15A>G
c.478A>G (p.Asn160Asp)
12g.112453343A>TCA386781678PTPN11c.481A>T (p.Asn161Tyr)
c.15A>T
c.478A>T (p.Asn160Tyr)
 dbSNP
12g.112453344A>CCA386781691PTPN11c.482A>C (p.Asn161Thr)
c.16A>C
c.479A>C (p.Asn160Thr)
12g.112453344A>GCA386781694PTPN11c.482A>G (p.Asn161Ser)
c.16A>G
c.479A>G (p.Asn160Ser)
 dbSNP
12g.112453344A>TCA386781684PTPN11c.482A>T (p.Asn161Ile)
c.16A>T
c.479A>T (p.Asn160Ile)
12g.112453345T>ACA386781699PTPN11c.483T>A (p.Asn161Lys)
c.17T>A
c.480T>A (p.Asn160Lys)
 dbSNP
12g.112453345T>CCA481882791PTPN11c.483T>C (p.Asn161=)
c.17T>C
c.480T>C (p.Asn160=)
 dbSNP gnomAD v2 gnomAD v4
12g.112453345T>GCA386781700PTPN11c.483T>G (p.Asn161Lys)
c.17T>G
c.480T>G (p.Asn160Lys)
12g.112453345T=CA2063743544PTPN11c.483T= (p.Asn161=)
c.17T=
c.480T= (p.Asn160=)
12g.112453346G>ACA386781711PTPN11c.484G>A (p.Asp162Asn)
c.18G>A
c.481G>A (p.Asp161Asn)
 dbSNP
12g.112453346G>CCA386781717PTPN11c.484G>C (p.Asp162His)
c.18G>C
c.481G>C (p.Asp161His)
 dbSNP
12g.112453346G>TCA386781714PTPN11c.484G>T (p.Asp162Tyr)
c.18G>T
c.481G>T (p.Asp161Tyr)
 dbSNP
12g.112453347A>CCA386781726PTPN11c.485A>C (p.Asp162Ala)
c.19A>C
c.482A>C (p.Asp161Ala)
12g.112453347A>GCA386781731PTPN11c.485A>G (p.Asp162Gly)
c.19A>G
c.482A>G (p.Asp161Gly)
12g.112453347A>TCA386781729PTPN11c.485A>T (p.Asp162Val)
c.19A>T
c.482A>T (p.Asp161Val)
 dbSNP
12g.112453348C>ACA386781736PTPN11c.486C>A (p.Asp162Glu)
c.20C>A
c.483C>A (p.Asp161Glu)
 dbSNP
12g.112453348C=CA2063743551PTPN11c.486C= (p.Asp162=)
c.20C=
c.483C= (p.Asp161=)
12g.112453348C>GCA386781741PTPN11c.486C>G (p.Asp162Glu)
c.20C>G
c.483C>G (p.Asp161Glu)
 dbSNP
12g.112453348C>TCA282089PTPN11c.486C>T (p.Asp162=)
c.20C>T
c.483C>T (p.Asp161=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.112453349G>ACA297079PTPN11c.487G>A (p.Gly163Ser)
c.21G>A
c.484G>A (p.Gly162Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112453349G>CCA386781746PTPN11c.487G>C (p.Gly163Arg)
c.21G>C
c.484G>C (p.Gly162Arg)
 dbSNP
12g.112453349G=CA2063743562PTPN11c.487G= (p.Gly163=)
c.21G=
c.484G= (p.Gly162=)
12g.112453349G>TCA386781748PTPN11c.487G>T (p.Gly163Cys)
c.21G>T
c.484G>T (p.Gly162Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.112453350G>ACA386781750PTPN11c.488G>A (p.Gly163Asp)
c.22G>A
c.485G>A (p.Gly162Asp)
 ClinVar
12g.112453350G>CCA386781755PTPN11c.488G>C (p.Gly163Ala)
c.22G>C
c.485G>C (p.Gly162Ala)
12g.112453350G>TCA386781759PTPN11c.488G>T (p.Gly163Val)
c.22G>T
c.485G>T (p.Gly162Val)
12g.112453351C>ACA481882797PTPN11c.489C>A (p.Gly163=)
c.23C>A
c.486C>A (p.Gly162=)
 dbSNP
12g.112453351C=CA2063743571PTPN11c.489C= (p.Gly163=)
c.23C=
c.486C= (p.Gly162=)
12g.112453351C>GCA481882798PTPN11c.489C>G (p.Gly163=)
c.23C>G
c.486C>G (p.Gly162=)
 dbSNP
12g.112453351C>TCA481882794PTPN11c.489C>T (p.Gly163=)
c.23C>T
c.486C>T (p.Gly162=)
 ClinVar dbSNP
12g.112453352A>CCA386781764PTPN11c.490A>C (p.Lys164Gln)
c.24A>C
c.487A>C (p.Lys163Gln)
12g.112453352A>GCA386781766PTPN11c.490A>G (p.Lys164Glu)
c.24A>G
c.487A>G (p.Lys163Glu)
12g.112453352A>TCA386781768PTPN11c.490A>T (p.Lys164Ter)
c.24A>T
c.487A>T (p.Lys163Ter)
12g.112453353A=CA2063743578PTPN11c.491A= (p.Lys164=)
c.25A=
c.488A= (p.Lys163=)
12g.112453353A>CCA386781774PTPN11c.491A>C (p.Lys164Thr)
c.25A>C
c.488A>C (p.Lys163Thr)
12g.112453353A>GCA386781772PTPN11c.491A>G (p.Lys164Arg)
c.25A>G
c.488A>G (p.Lys163Arg)
 dbSNP
12g.112453353A>TCA386781770PTPN11c.491A>T (p.Lys164Met)
c.25A>T
c.488A>T (p.Lys163Met)
12g.112453354G>ACA481882802PTPN11c.492G>A (p.Lys164=)
c.26G>A
c.489G>A (p.Lys163=)
12g.112453354G>CCA386781777PTPN11c.492G>C (p.Lys164Asn)
c.26G>C
c.489G>C (p.Lys163Asn)
 dbSNP
12g.112453354G>TCA386781779PTPN11c.492G>T (p.Lys164Asn)
c.26G>T
c.489G>T (p.Lys163Asn)
12g.112453355T>ACA386781782PTPN11c.493T>A (p.Ser165Thr)
c.27T>A
c.490T>A (p.Ser164Thr)
 dbSNP
12g.112453355T>CCA386781785PTPN11c.493T>C (p.Ser165Pro)
c.27T>C
c.490T>C (p.Ser164Pro)
12g.112453355T>GCA386781788PTPN11c.493T>G (p.Ser165Ala)
c.27T>G
c.490T>G (p.Ser164Ala)
 dbSNP
12g.112453356C>ACA386781790PTPN11c.494C>A (p.Ser165Tyr)
c.28C>A
c.491C>A (p.Ser164Tyr)
 dbSNP
12g.112453356C>GCA386781792PTPN11c.494C>G (p.Ser165Cys)
c.28C>G
c.491C>G (p.Ser164Cys)
 dbSNP
12g.112453356C>TCA386781795PTPN11c.494C>T (p.Ser165Phe)
c.28C>T
c.491C>T (p.Ser164Phe)
12g.112453357T>ACA6798554PTPN11c.495T>A (p.Ser165=)
c.29T>A
c.492T>A (p.Ser164=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.112453357T>CCA481882811PTPN11c.495T>C (p.Ser165=)
c.29T>C
c.492T>C (p.Ser164=)
12g.112453357T>GCA481882813PTPN11c.495T>G (p.Ser165=)
c.29T>G
c.492T>G (p.Ser164=)
12g.112453357T=CA2063743583PTPN11c.495T= (p.Ser165=)
c.29T=
c.492T= (p.Ser164=)
12g.112453358A>CCA386781799PTPN11c.496A>C (p.Lys166Gln)
c.30A>C
c.493A>C (p.Lys165Gln)
12g.112453358A>GCA386781801PTPN11c.496A>G (p.Lys166Glu)
c.30A>G
c.493A>G (p.Lys165Glu)
 gnomAD v4
12g.112453358A>TCA386781803PTPN11c.496A>T (p.Lys166Ter)
c.30A>T
c.493A>T (p.Lys165Ter)
 COSMIC
12g.112453359A>CCA386781805PTPN11c.497A>C (p.Lys166Thr)
c.31A>C
c.494A>C (p.Lys165Thr)
12g.112453359A>GCA386781809PTPN11c.497A>G (p.Lys166Arg)
c.31A>G
c.494A>G (p.Lys165Arg)
12g.112453359A>TCA386781807PTPN11c.497A>T (p.Lys166Ile)
c.31A>T
c.494A>T (p.Lys165Ile)
12g.112453360A=CA2063743586PTPN11c.498A= (p.Lys166=)
c.32A=
c.495A= (p.Lys165=)
12g.112453360A>CCA386781812PTPN11c.498A>C (p.Lys166Asn)
c.32A>C
c.495A>C (p.Lys165Asn)
12g.112453360A>GCA243708218PTPN11c.498A>G (p.Lys166=)
c.32A>G
c.495A>G (p.Lys165=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.112453360A>TCA386781814PTPN11c.498A>T (p.Lys166Asn)
c.32A>T
c.495A>T (p.Lys165Asn)
12g.112453361G>ACA386781819PTPN11c.499G>A (p.Val167Met)
c.33G>A
c.496G>A (p.Val166Met)
 dbSNP
12g.112453361G>CCA386781821PTPN11c.499G>C (p.Val167Leu)
c.33G>C
c.496G>C (p.Val166Leu)
12g.112453361G>TCA386781823PTPN11c.499G>T (p.Val167Leu)
c.33G>T
c.496G>T (p.Val166Leu)
12g.112453362T>ACA386781828PTPN11c.500T>A (p.Val167Glu)
c.34T>A
c.497T>A (p.Val166Glu)
 dbSNP
12g.112453362T>CCA386781830PTPN11c.500T>C (p.Val167Ala)
c.34T>C
c.497T>C (p.Val166Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.112453362T>GCA386781832PTPN11c.500T>G (p.Val167Gly)
c.34T>G
c.497T>G (p.Val166Gly)
12g.112453362T=CA2063743587PTPN11c.500T= (p.Val167=)
c.34T=
c.497T= (p.Val166=)
12g.112453363G>ACA481882885PTPN11c.501G>A (p.Val167=)
c.35G>A
c.498G>A (p.Val166=)
 dbSNP
12g.112453363G>CCA481882882PTPN11c.501G>C (p.Val167=)
c.35G>C
c.498G>C (p.Val166=)
 ClinVar
12g.112453363G>TCA481882884PTPN11c.501G>T (p.Val167=)
c.35G>T
c.498G>T (p.Val166=)
12g.112453364A=CA2063743591PTPN11c.502A= (p.Thr168=)
c.36A=
c.499A= (p.Thr167=)
12g.112453364A>CCA386781834PTPN11c.502A>C (p.Thr168Pro)
c.36A>C
c.499A>C (p.Thr167Pro)
12g.112453364A>GCA386781836PTPN11c.502A>G (p.Thr168Ala)
c.36A>G
c.499A>G (p.Thr167Ala)
 ClinVar dbSNP
12g.112453364A>TCA386781838PTPN11c.502A>T (p.Thr168Ser)
c.36A>T
c.499A>T (p.Thr167Ser)
 ClinVar dbSNP
12g.112453364_112453365delinsACCA2063743590PTPN11c.502_503delinsAC (p.Thr168=)
c.36_37delinsAC
c.499_500delinsAC (p.Thr167=)
12g.112453365C>ACA386781846PTPN11c.503C>A (p.Thr168Asn)
c.37C>A
c.500C>A (p.Thr167Asn)
 dbSNP gnomAD v4
12g.112453365C>GCA386781842PTPN11c.503C>G (p.Thr168Ser)
c.37C>G
c.500C>G (p.Thr167Ser)
 dbSNP gnomAD v4
12g.112453365C>TCA386781844PTPN11c.503C>T (p.Thr168Ile)
c.37C>T
c.500C>T (p.Thr167Ile)
 dbSNP
12g.112453367delCA658822710PTPN11c.505del (p.His169MetfsTer3)
c.39del
c.502del (p.His168MetfsTer3)
 ClinVar dbSNP
12g.112453366C>ACA481882888PTPN11c.504C>A (p.Thr168=)
c.38C>A
c.501C>A (p.Thr167=)
 dbSNP
12g.112453366C>GCA481882889PTPN11c.504C>G (p.Thr168=)
c.38C>G
c.501C>G (p.Thr167=)
 dbSNP
12g.112453366C>TCA481882890PTPN11c.504C>T (p.Thr168=)
c.38C>T
c.501C>T (p.Thr167=)
 dbSNP gnomAD v4
12g.112453367C>ACA386781847PTPN11c.505C>A (p.His169Asn)
c.39C>A
c.502C>A (p.His168Asn)
 dbSNP
12g.112453367C>GCA386781849PTPN11c.505C>G (p.His169Asp)
c.39C>G
c.502C>G (p.His168Asp)
12g.112453367C>TCA386781851PTPN11c.505C>T (p.His169Tyr)
c.39C>T
c.502C>T (p.His168Tyr)
12g.112453368A>CCA386781855PTPN11c.506A>C (p.His169Pro)
c.40A>C
c.503A>C (p.His168Pro)
12g.112453368A>GCA386781857PTPN11c.506A>G (p.His169Arg)
c.40A>G
c.503A>G (p.His168Arg)
12g.112453368A>TCA386781859PTPN11c.506A>T (p.His169Leu)
c.40A>T
c.503A>T (p.His168Leu)
12g.112453369T>ACA386781862PTPN11c.507T>A (p.His169Gln)
c.41T>A
c.504T>A (p.His168Gln)
12g.112453369T>CCA481882894PTPN11c.507T>C (p.His169=)
c.41T>C
c.504T>C (p.His168=)
 ClinVar dbSNP
12g.112453369T>GCA386781864PTPN11c.507T>G (p.His169Gln)
c.41T>G
c.504T>G (p.His168Gln)
12g.112453370G>ACA386781865PTPN11c.508G>A (p.Val170Ile)
c.42G>A
c.505G>A (p.Val169Ile)
 dbSNP
12g.112453370G>CCA386781867PTPN11c.508G>C (p.Val170Leu)
c.42G>C
c.505G>C (p.Val169Leu)
 dbSNP
12g.112453370G>TCA386781869PTPN11c.508G>T (p.Val170Phe)
c.42G>T
c.505G>T (p.Val169Phe)
12g.112453371T>ACA386781880PTPN11c.509T>A (p.Val170Asp)
c.43T>A
c.506T>A (p.Val169Asp)
 dbSNP
12g.112453371T>CCA386781881PTPN11c.509T>C (p.Val170Ala)
c.43T>C
c.506T>C (p.Val169Ala)
12g.112453371T>GCA386781871PTPN11c.509T>G (p.Val170Gly)
c.43T>G
c.506T>G (p.Val169Gly)
12g.112453372T>ACA481882901PTPN11c.510T>A (p.Val170=)
c.44T>A
c.507T>A (p.Val169=)
12g.112453372T>CCA481882902PTPN11c.510T>C (p.Val170=)
c.44T>C
c.507T>C (p.Val169=)
12g.112453372T>GCA481882903PTPN11c.510T>G (p.Val170=)
c.44T>G
c.507T>G (p.Val169=)
12g.112453373A>CCA386781891PTPN11c.511A>C (p.Met171Leu)
c.45A>C
c.508A>C (p.Met170Leu)
12g.112453373A>GCA386781883PTPN11c.511A>G (p.Met171Val)
c.45A>G
c.508A>G (p.Met170Val)
 dbSNP
12g.112453373A>TCA386781885PTPN11c.511A>T (p.Met171Leu)
c.45A>T
c.508A>T (p.Met170Leu)
12g.112453374T>ACA386781892PTPN11c.512T>A (p.Met171Lys)
c.46T>A
c.509T>A (p.Met170Lys)
12g.112453374T>CCA386781894PTPN11c.512T>C (p.Met171Thr)
c.46T>C
c.509T>C (p.Met170Thr)
12g.112453374T>GCA386781896PTPN11c.512T>G (p.Met171Arg)
c.46T>G
c.509T>G (p.Met170Arg)
12g.112453375G>ACA386781899PTPN11c.513G>A (p.Met171Ile)
c.47G>A
c.510G>A (p.Met170Ile)
 dbSNP
12g.112453375G>CCA386781901PTPN11c.513G>C (p.Met171Ile)
c.47G>C
c.510G>C (p.Met170Ile)
 dbSNP
12g.112453375G>TCA386781903PTPN11c.513G>T (p.Met171Ile)
c.47G>T
c.510G>T (p.Met170Ile)
12g.112453376A>CCA386781907PTPN11c.514A>C (p.Ile172Leu)
c.48A>C
c.511A>C (p.Ile171Leu)
12g.112453376A>GCA386781910PTPN11c.514A>G (p.Ile172Val)
c.48A>G
c.511A>G (p.Ile171Val)
12g.112453376A>TCA386781912PTPN11c.514A>T (p.Ile172Phe)
c.48A>T
c.511A>T (p.Ile171Phe)
 dbSNP
12g.112453376_112453386delCA2580085826PTPN11c.514_524del (p.Ile172GlyfsTer13)
c.48_58del
c.511_521del (p.Ile171GlyfsTer13)
 ClinVar
12g.112453377T>ACA386781917PTPN11c.515T>A (p.Ile172Asn)
c.49T>A
c.512T>A (p.Ile171Asn)
 dbSNP
12g.112453377T>CCA386781919PTPN11c.515T>C (p.Ile172Thr)
c.49T>C
c.512T>C (p.Ile171Thr)
12g.112453377T>GCA386781922PTPN11c.515T>G (p.Ile172Ser)
c.49T>G
c.512T>G (p.Ile171Ser)
12g.112453378T>ACA481882908PTPN11c.516T>A (p.Ile172=)
c.50T>A
c.513T>A (p.Ile171=)
 dbSNP
12g.112453378T>CCA481882907PTPN11c.516T>C (p.Ile172=)
c.50T>C
c.513T>C (p.Ile171=)
12g.112453378T>GCA386781923PTPN11c.516T>G (p.Ile172Met)
c.50T>G
c.513T>G (p.Ile171Met)
12g.112453378T=CA2063743598PTPN11c.516T= (p.Ile172=)
c.50T=
c.513T= (p.Ile171=)
12g.112453379C>ACA386781924PTPN11c.517C>A (p.Arg173Ser)
c.51C>A
c.514C>A (p.Arg172Ser)
 dbSNP
12g.112453379C=CA2063743602PTPN11c.517C= (p.Arg173=)
c.51C=
c.514C= (p.Arg172=)
12g.112453379C>GCA386781925PTPN11c.517C>G (p.Arg173Gly)
c.51C>G
c.514C>G (p.Arg172Gly)
 dbSNP
12g.112453379C>TCA6798555PTPN11c.517C>T (p.Arg173Cys)
c.51C>T
c.514C>T (p.Arg172Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.112453380G>ACA243708219PTPN11c.518G>A (p.Arg173His)
c.52G>A
c.515G>A (p.Arg172His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.112453380G>CCA386781928PTPN11c.518G>C (p.Arg173Pro)
c.52G>C
c.515G>C (p.Arg172Pro)
 ClinVar dbSNP
12g.112453380G=CA2063743621PTPN11c.518G= (p.Arg173=)
c.52G=
c.515G= (p.Arg172=)
12g.112453380G>TCA6798556PTPN11c.518G>T (p.Arg173Leu)
c.52G>T
c.515G>T (p.Arg172Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.112453381C>ACA481882910PTPN11c.519C>A (p.Arg173=)
c.53C>A
c.516C>A (p.Arg172=)
 dbSNP
12g.112453381C=CA2063743628PTPN11c.519C= (p.Arg173=)
c.53C=
c.516C= (p.Arg172=)
12g.112453381C>GCA6798557PTPN11c.519C>G (p.Arg173=)
c.53C>G
c.516C>G (p.Arg172=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112453381C>TCA481882911PTPN11c.519C>T (p.Arg173=)
c.53C>T
c.516C>T (p.Arg172=)
 dbSNP
12g.112453382T>ACA386781929PTPN11c.520T>A (p.Cys174Ser)
c.54T>A
c.517T>A (p.Cys173Ser)
 gnomAD v4
12g.112453382T>CCA386781930PTPN11c.520T>C (p.Cys174Arg)
c.54T>C
c.517T>C (p.Cys173Arg)
12g.112453382T>GCA386781931PTPN11c.520T>G (p.Cys174Gly)
c.54T>G
c.517T>G (p.Cys173Gly)
12g.112453383G>ACA386781932PTPN11c.521G>A (p.Cys174Tyr)
c.55G>A
c.518G>A (p.Cys173Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.112453383G>CCA386781933PTPN11c.521G>C (p.Cys174Ser)
c.55G>C
c.518G>C (p.Cys173Ser)
 dbSNP
12g.112453383G=CA2063743636PTPN11c.521G= (p.Cys174=)
c.55G=
c.518G= (p.Cys173=)
12g.112453383G>TCA386781934PTPN11c.521G>T (p.Cys174Phe)
c.55G>T
c.518G>T (p.Cys173Phe)
12g.112453384T>ACA386781935PTPN11c.522T>A (p.Cys174Ter)
c.56T>A
c.519T>A (p.Cys173Ter)
 dbSNP
12g.112453384T>CCA481882915PTPN11c.522T>C (p.Cys174=)
c.56T>C
c.519T>C (p.Cys173=)
12g.112453384T>GCA386781936PTPN11c.522T>G (p.Cys174Trp)
c.56T>G
c.519T>G (p.Cys173Trp)
12g.112453385C>ACA386781937PTPN11c.523C>A (p.Gln175Lys)
c.57C>A
c.520C>A (p.Gln174Lys)
12g.112453385C=CA2063743639PTPN11c.523C= (p.Gln175=)
c.57C=
c.520C= (p.Gln174=)
12g.112453385C>GCA386781938PTPN11c.523C>G (p.Gln175Glu)
c.57C>G
c.520C>G (p.Gln174Glu)
 dbSNP gnomAD v2 gnomAD v4
12g.112453385C>TCA386781939PTPN11c.523C>T (p.Gln175Ter)
c.57C>T
c.520C>T (p.Gln174Ter)
 COSMIC
12g.112453386A=CA2063743640PTPN11c.524A= (p.Gln175=)
c.58A=
c.521A= (p.Gln174=)
12g.112453386A>CCA386781940PTPN11c.524A>C (p.Gln175Pro)
c.58A>C
c.521A>C (p.Gln174Pro)
 dbSNP gnomAD v3 gnomAD v4
12g.112453386A>GCA386781941PTPN11c.524A>G (p.Gln175Arg)
c.58A>G
c.521A>G (p.Gln174Arg)
12g.112453386A>TCA386781942PTPN11c.524A>T (p.Gln175Leu)
c.58A>T
c.521A>T (p.Gln174Leu)
12g.112453387G>ACA481882918PTPN11c.525G>A (p.Gln175=)
c.59G>A
c.522G>A (p.Gln174=)
 dbSNP
12g.112453387G>CCA386781943PTPN11c.525G>C (p.Gln175His)
c.59G>C
c.522G>C (p.Gln174His)
12g.112453387G>TCA386781944PTPN11c.525G>T (p.Gln175His)
c.59G>T
c.522G>T (p.Gln174His)
12g.112453388G>ACA386781945PTPN11c.525+1G>A (n.525+1G>A)
c.59+1G>A
c.522+1G>A (n.522+1G>A)
 ClinVar dbSNP
12g.112453388G>CCA386781946PTPN11c.525+1G>C (n.525+1G>C)
c.59+1G>C
c.522+1G>C (n.522+1G>C)
12g.112453388G>TCA386781947PTPN11c.525+1G>T (n.525+1G>T)
c.59+1G>T
c.522+1G>T (n.522+1G>T)
12g.112453388_112453389insAACCA2621022443PTPN11c.525+1_525+2insAAC (n.525+1_525+2insAAC)
c.59+1_59+2insAAC
c.522+1_522+2insAAC (n.522+1_522+2insAAC)
 gnomAD v4
12g.112453388_112453389insAACTGAAACA2621022440PTPN11c.525+1_525+2insAACTGAAA (n.525+1_525+2insAACTGAAA)
c.59+1_59+2insAACTGAAA
c.522+1_522+2insAACTGAAA (n.522+1_522+2insAACTGAAA)
 gnomAD v4
12g.112453389T>ACA386781948PTPN11c.525+2T>A (n.525+2T>A)
c.59+2T>A
c.522+2T>A (n.522+2T>A)
 dbSNP
12g.112453389T>CCA386781949PTPN11c.525+2T>C (n.525+2T>C)
c.59+2T>C
c.522+2T>C (n.522+2T>C)
 dbSNP
12g.112453389T>GCA386781950PTPN11c.525+2T>G (n.525+2T>G)
c.59+2T>G
c.522+2T>G (n.522+2T>G)
12g.112453389_112453390insGCA2621022444PTPN11c.525+2_525+3insG (n.525+2_525+3insG)
c.59+2_59+3insG
c.522+2_522+3insG (n.522+2_522+3insG)
 gnomAD v4
12g.112453390_112453391insCGACGTTGGTGGAGGAGCA2621022445PTPN11c.525+3_525+4insCGACGTTGGTGGAGGAG (n.525+3_525+4insCGACGTTGGTGGAGGAG)
c.59+3_59+4insCGACGTTGGTGGAGGAG
c.522+3_522+4insCGACGTTGGTGGAGGAG (n.522+3_522+4insCGACGTTGGTGGAGGAG)
 gnomAD v4
12g.112453393T>ACA2573148014PTPN11c.525+6T>A (n.525+6T>A)
c.59+6T>A
c.522+6T>A (n.522+6T>A)
 ClinVar dbSNP gnomAD v4
12g.112453393T>CCA243708220PTPN11c.525+6T>C (n.525+6T>C)
c.59+6T>C
c.522+6T>C (n.522+6T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.112453393T=CA2063743641PTPN11c.525+6T= (n.525+6T=)
c.59+6T=
c.522+6T= (n.522+6T=)
12g.112453393_112453394insACGACGTTGGTGGAGGAGAACGGTTTGATTCTTTGACAGATCTTGTGGAACATTATAAGAAGAATCCTATGGTGGAAACATTGGGTACAGTACTACAACA2621022450PTPN11c.525+6_525+7insACGACGTTGGTGGAGGAGAACGGTTTGATTCTTTGACAGATCTTGTGGAACATTATAAGAAGAATCCTATGGTGGAAACATTGGGTACAGTACTACAA (n.525+6_525+7insACGACGTTGGTGGAGGAGAACGGTTTGATTCTTTGACAGATCTTGTGGAACATTATAAGAAGAATCCTATGGTGGAAACATTGGGTACAGTACTACAA)
c.59+6_59+7insACGACGTTGGTGGAGGAGAACGGTTTGATTCTTTGACAGATCTTGTGGAACATTATAAGAAGAATCCTATGGTGGAAACATTGGGTACAGTACTACAA
c.522+6_522+7insACGACGTTGGTGGAGGAGAACGGTTTGATTCTTTGACAGATCTTGTGGAACATTATAAGAAGAATCCTATGGTGGAAACATTGGGTACAGTACTACAA (n.522+6_522+7insACGACGTTGGTGGAGGAGAACGGTTTGATTCTTTGACAGATCTTGTGGAACATTATAAGAAGAATCCTATGGTGGAAACATTGGGTACAGTACTACAA)
 gnomAD v4
12g.112453396C>ACA2727222423PTPN11c.525+9C>A (n.525+9C>A)
c.59+9C>A
c.522+9C>A (n.522+9C>A)
 dbSNP
12g.112453396C>GCA2727222394PTPN11c.525+9C>G (n.525+9C>G)
c.59+9C>G
c.522+9C>G (n.522+9C>G)
 dbSNP
12g.112453397C>ACA2727222439PTPN11c.525+10C>A (n.525+10C>A)
c.59+10C>A
c.522+10C>A (n.522+10C>A)
 dbSNP
12g.112453397C>TCA2621022451PTPN11c.525+10C>T (n.525+10C>T)
c.59+10C>T
c.522+10C>T (n.522+10C>T)
 gnomAD v4
12g.112453398A=CA2063743643PTPN11c.525+11A= (n.525+11A=)
c.59+11A=
c.522+11A= (n.522+11A=)
12g.112453398A>GCA6798558PTPN11c.525+11A>G (n.525+11A>G)
c.59+11A>G
c.522+11A>G (n.522+11A>G)
 ClinVar dbSNP ExAC gnomAD v4
12g.112453399G>ACA2581121384PTPN11c.525+12G>A (n.525+12G>A)
c.59+12G>A
c.522+12G>A (n.522+12G>A)
12g.112453399G>CCA134671PTPN11c.525+12G>C (n.525+12G>C)
c.59+12G>C
c.522+12G>C (n.522+12G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112453399G=CA2063743650PTPN11c.525+12G= (n.525+12G=)
c.59+12G=
c.522+12G= (n.522+12G=)
12g.112453399G>TCA2581121385PTPN11c.525+12G>T (n.525+12G>T)
c.59+12G>T
c.522+12G>T (n.522+12G>T)
12g.112453400T>ACA2727222575PTPN11c.525+13T>A (n.525+13T>A)
c.59+13T>A
c.522+13T>A (n.522+13T>A)
 dbSNP
12g.112453400T>CCA2621022458PTPN11c.525+13T>C (n.525+13T>C)
c.59+13T>C
c.522+13T>C (n.522+13T>C)
 gnomAD v4
12g.112453402G>ACA2621022459PTPN11c.525+15G>A (n.525+15G>A)
c.59+15G>A
c.522+15G>A (n.522+15G>A)
 gnomAD v4
12g.112453403A=CA2063743659PTPN11c.525+16A= (n.525+16A=)
c.59+16A=
c.522+16A= (n.522+16A=)
12g.112453403A>CCA6798559PTPN11c.525+16A>C (n.525+16A>C)
c.59+16A>C
c.522+16A>C (n.522+16A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.112453403A>GCA2575298865PTPN11c.525+16A>G (n.525+16A>G)
c.59+16A>G
c.522+16A>G (n.522+16A>G)
12g.112453403A>TCA2063743657PTPN11c.525+16A>T (n.525+16A>T)
c.59+16A>T
c.522+16A>T (n.522+16A>T)
 ClinVar dbSNP
12g.112453404A>GCA2621022470PTPN11c.525+17A>G (n.525+17A>G)
c.59+17A>G
c.522+17A>G (n.522+17A>G)
 gnomAD v4
12g.112453406A>GCA2621022472PTPN11c.525+19A>G (n.525+19A>G)
c.59+19A>G
c.522+19A>G (n.522+19A>G)
 ClinVar gnomAD v4
12g.112453407A=CA2063743665PTPN11c.525+20A= (n.525+20A=)
c.59+20A=
c.522+20A= (n.522+20A=)
12g.112453407A>GCA2621022473PTPN11c.525+20A>G (n.525+20A>G)
c.59+20A>G
c.522+20A>G (n.522+20A>G)
 gnomAD v4
12g.112453407A>TCA2063743666PTPN11c.525+20A>T (n.525+20A>T)
c.59+20A>T
c.522+20A>T (n.522+20A>T)
 dbSNP
12g.112453408T>CCA683655914PTPN11c.525+21T>C (n.525+21T>C)
c.59+21T>C
c.522+21T>C (n.522+21T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.112453408T=CA2063743670PTPN11c.525+21T= (n.525+21T=)
c.59+21T=
c.522+21T= (n.522+21T=)
12g.112453410G>ACA2621022475PTPN11c.525+23G>A (n.525+23G>A)
c.59+23G>A
c.522+23G>A (n.522+23G>A)
 gnomAD v4
12g.112453411G>ACA2621022476PTPN11c.525+24G>A (n.525+24G>A)
c.59+24G>A
c.522+24G>A (n.522+24G>A)
 gnomAD v4
12g.112453412T>GCA243708221PTPN11c.525+25T>G (n.525+25T>G)
c.59+25T>G
c.522+25T>G (n.522+25T>G)
 dbSNP
12g.112453412T=CA2063743675PTPN11c.525+25T= (n.525+25T=)
c.59+25T=
c.522+25T= (n.522+25T=)
12g.112453413C>ACA2621022478PTPN11c.525+26C>A (n.525+26C>A)
c.59+26C>A
c.522+26C>A (n.522+26C>A)
 gnomAD v4
12g.112453413C=CA2063743682PTPN11c.525+26C= (n.525+26C=)
c.59+26C=
c.522+26C= (n.522+26C=)
12g.112453413C>GCA2797483160PTPN11c.525+26C>G (n.525+26C>G)
c.59+26C>G
c.522+26C>G (n.522+26C>G)
12g.112453413C>TCA2063743680PTPN11c.525+26C>T (n.525+26C>T)
c.59+26C>T
c.522+26C>T (n.522+26C>T)
 dbSNP
12g.112453415G>ACA2575298866PTPN11c.525+28G>A (n.525+28G>A)
c.59+28G>A
c.522+28G>A (n.522+28G>A)
 dbSNP
12g.112453416G>ACA6798560PTPN11c.525+29G>A (n.525+29G>A)
c.59+29G>A
c.522+29G>A (n.522+29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.112453416G=CA2063743685PTPN11c.525+29G= (n.525+29G=)
c.59+29G=
c.522+29G= (n.522+29G=)
12g.112453416G>TCA2621022483PTPN11c.525+29G>T (n.525+29G>T)
c.59+29G>T
c.522+29G>T (n.522+29G>T)
 gnomAD v4
12g.112453417C>ACA2621022484PTPN11c.525+30C>A (n.525+30C>A)
c.59+30C>A
c.522+30C>A (n.522+30C>A)
 gnomAD v4
12g.112453418A=CA2063743688PTPN11c.525+31A= (n.525+31A=)
c.59+31A=
c.522+31A= (n.522+31A=)
12g.112453418A>GCA6798561PTPN11c.525+31A>G (n.525+31A>G)
c.59+31A>G
c.522+31A>G (n.522+31A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.112453419A>GCA2621022487PTPN11c.525+32A>G (n.525+32A>G)
c.59+32A>G
c.522+32A>G (n.522+32A>G)
 gnomAD v4
12g.112453420G>ACA6798562PTPN11c.525+33G>A (n.525+33G>A)
c.59+33G>A
c.522+33G>A (n.522+33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112453420G>CCA2621022490PTPN11c.525+33G>C (n.525+33G>C)
c.59+33G>C
c.522+33G>C (n.522+33G>C)
 gnomAD v4
12g.112453420G=CA2063743691PTPN11c.525+33G= (n.525+33G=)
c.59+33G=
c.522+33G= (n.522+33G=)
12g.112453421A=CA2063743696PTPN11c.525+34A= (n.525+34A=)
c.59+34A=
c.522+34A= (n.522+34A=)
12g.112453421A>GCA6798563PTPN11c.525+34A>G (n.525+34A>G)
c.59+34A>G
c.522+34A>G (n.522+34A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112453422T>CCA683655920PTPN11c.525+35T>C (n.525+35T>C)
c.59+35T>C
c.522+35T>C (n.522+35T>C)
 dbSNP gnomAD v4
12g.112453422T=CA2063743700PTPN11c.525+35T= (n.525+35T=)
c.59+35T=
c.522+35T= (n.522+35T=)
12g.112453426A=CA2063743703PTPN11c.525+39A= (n.525+39A=)
c.59+39A=
c.522+39A= (n.522+39A=)
12g.112453426A>GCA6798564PTPN11c.525+39A>G (n.525+39A>G)
c.59+39A>G
c.522+39A>G (n.522+39A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112453427C=CA2063743706PTPN11c.525+40C= (n.525+40C=)
c.59+40C=
c.522+40C= (n.522+40C=)
12g.112453427C>TCA243708222PTPN11c.525+40C>T (n.525+40C>T)
c.59+40C>T
c.522+40C>T (n.522+40C>T)
 dbSNP
12g.112453428C>ACA607376798PTPN11c.525+41C>A (n.525+41C>A)
c.59+41C>A
c.522+41C>A (n.522+41C>A)
 dbSNP gnomAD v2 gnomAD v4
12g.112453428C=CA2063743708PTPN11c.525+41C= (n.525+41C=)
c.59+41C=
c.522+41C= (n.522+41C=)
12g.112453428C>TCA2621022502PTPN11c.525+41C>T (n.525+41C>T)
c.59+41C>T
c.522+41C>T (n.522+41C>T)
 gnomAD v4
12g.112453430T>CCA2621022506PTPN11c.525+43T>C (n.525+43T>C)
c.59+43T>C
c.522+43T>C (n.522+43T>C)
 gnomAD v4
12g.112453431T>GCA607376800PTPN11c.525+44T>G (n.525+44T>G)
c.59+44T>G
c.522+44T>G (n.522+44T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.112453431T=CA2063743710PTPN11c.525+44T= (n.525+44T=)
c.59+44T=
c.522+44T= (n.522+44T=)
12g.112453431_112453432delinsTGCA2063743711PTPN11c.525+44_525+45delinsTG (n.525+44_525+45delinsTG)
c.59+44_59+45delinsTG
c.522+44_522+45delinsTG (n.522+44_522+45delinsTG)
12g.112453432G>ACA2063743715PTPN11c.525+45G>A (n.525+45G>A)
c.59+45G>A
c.522+45G>A (n.522+45G>A)
 dbSNP
12g.112453432G=CA2063743717PTPN11c.525+45G= (n.525+45G=)
c.59+45G=
c.522+45G= (n.522+45G=)
12g.112453434delCA2063743714PTPN11c.525+47del (n.525+47del)
c.59+47del
c.522+47del (n.522+47del)
 dbSNP
12g.112453434G>ACA683655932PTPN11c.525+47G>A (n.525+47G>A)
c.59+47G>A
c.522+47G>A (n.522+47G>A)
 dbSNP gnomAD v3 gnomAD v4
12g.112453434G=CA2063743724PTPN11c.525+47G= (n.525+47G=)
c.59+47G=
c.522+47G= (n.522+47G=)
12g.112453435T>CCA607376801PTPN11c.525+48T>C (n.525+48T>C)
c.59+48T>C
c.522+48T>C (n.522+48T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.112453435T=CA2063743728PTPN11c.525+48T= (n.525+48T=)
c.59+48T=
c.522+48T= (n.522+48T=)

Number of alleles fetched