Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
12g.112477938A>CCA386791427PTPN11c.1015A>C (p.Asn339His)
c.901A>C (p.Asn301His)
c.7A>C (p.Asn3His)
c.1012A>C (p.Asn338His)
12g.112477938A>GCA386791429PTPN11c.1015A>G (p.Asn339Asp)
c.901A>G (p.Asn301Asp)
c.7A>G (p.Asn3Asp)
c.1012A>G (p.Asn338Asp)
gnomAD v4
12g.112477938A>TCA386791430PTPN11c.1015A>T (p.Asn339Tyr)
c.901A>T (p.Asn301Tyr)
c.7A>T (p.Asn3Tyr)
c.1012A>T (p.Asn338Tyr)
12g.112477939A>CCA386791431PTPN11c.1016A>C (p.Asn339Thr)
c.902A>C (p.Asn301Thr)
c.8A>C (p.Asn3Thr)
c.1013A>C (p.Asn338Thr)
12g.112477939A>GCA386791432PTPN11c.1016A>G (p.Asn339Ser)
c.902A>G (p.Asn301Ser)
c.8A>G (p.Asn3Ser)
c.1013A>G (p.Asn338Ser)
gnomAD v4 COSMIC
12g.112477939A>TCA386791433PTPN11c.1016A>T (p.Asn339Ile)
c.902A>T (p.Asn301Ile)
c.8A>T (p.Asn3Ile)
c.1013A>T (p.Asn338Ile)
12g.112477940T>ACA386791434PTPN11c.1017T>A (p.Asn339Lys)
c.903T>A (p.Asn301Lys)
c.9T>A (p.Asn3Lys)
c.1014T>A (p.Asn338Lys)
12g.112477940T>CCA481887964PTPN11c.1017T>C (p.Asn339=)
c.903T>C (p.Asn301=)
c.9T>C (p.Asn3=)
c.1014T>C (p.Asn338=)
ClinVar gnomAD v4
12g.112477940T>GCA386791435PTPN11c.1017T>G (p.Asn339Lys)
c.903T>G (p.Asn301Lys)
c.9T>G (p.Asn3Lys)
c.1014T>G (p.Asn338Lys)
12g.112477941G>ACA386791437PTPN11c.1018G>A (p.Asp340Asn)
c.904G>A (p.Asp302Asn)
c.10G>A (p.Asp4Asn)
c.1015G>A (p.Asp339Asn)
12g.112477941G>CCA386791438PTPN11c.1018G>C (p.Asp340His)
c.904G>C (p.Asp302His)
c.10G>C (p.Asp4His)
c.1015G>C (p.Asp339His)
12g.112477941G>TCA386791440PTPN11c.1018G>T (p.Asp340Tyr)
c.904G>T (p.Asp302Tyr)
c.10G>T (p.Asp4Tyr)
c.1015G>T (p.Asp339Tyr)
ClinVar dbSNP
12g.112477942A>CCA386791442PTPN11c.1019A>C (p.Asp340Ala)
c.905A>C (p.Asp302Ala)
c.11A>C (p.Asp4Ala)
c.1016A>C (p.Asp339Ala)
12g.112477942A>GCA386791444PTPN11c.1019A>G (p.Asp340Gly)
c.905A>G (p.Asp302Gly)
c.11A>G (p.Asp4Gly)
c.1016A>G (p.Asp339Gly)
12g.112477942A>TCA386791445PTPN11c.1019A>T (p.Asp340Val)
c.905A>T (p.Asp302Val)
c.11A>T (p.Asp4Val)
c.1016A>T (p.Asp339Val)
12g.112477943C>ACA386791449PTPN11c.1020C>A (p.Asp340Glu)
c.906C>A (p.Asp302Glu)
c.12C>A (p.Asp4Glu)
c.1017C>A (p.Asp339Glu)
12g.112477943C=CA2063775967PTPN11c.1020C= (p.Asp340=)
c.906C= (p.Asp302=)
c.12C= (p.Asp4=)
c.1017C= (p.Asp339=)
12g.112477943C>GCA386791447PTPN11c.1020C>G (p.Asp340Glu)
c.906C>G (p.Asp302Glu)
c.12C>G (p.Asp4Glu)
c.1017C>G (p.Asp339Glu)
12g.112477943C>TCA481887967PTPN11c.1020C>T (p.Asp340=)
c.906C>T (p.Asp302=)
c.12C>T (p.Asp4=)
c.1017C>T (p.Asp339=)
dbSNP gnomAD v2 gnomAD v4
12g.112477944T>ACA386791451PTPN11c.1021T>A (p.Phe341Ile)
c.907T>A (p.Phe303Ile)
c.13T>A (p.Phe5Ile)
c.1018T>A (p.Phe340Ile)
12g.112477944T>CCA386791454PTPN11c.1021T>C (p.Phe341Leu)
c.907T>C (p.Phe303Leu)
c.13T>C (p.Phe5Leu)
c.1018T>C (p.Phe340Leu)
12g.112477944T>GCA386791453PTPN11c.1021T>G (p.Phe341Val)
c.907T>G (p.Phe303Val)
c.13T>G (p.Phe5Val)
c.1018T>G (p.Phe340Val)
12g.112477945T>ACA386791457PTPN11c.1022T>A (p.Phe341Tyr)
c.908T>A (p.Phe303Tyr)
c.14T>A (p.Phe5Tyr)
c.1019T>A (p.Phe340Tyr)
12g.112477945T>CCA386791460PTPN11c.1022T>C (p.Phe341Ser)
c.908T>C (p.Phe303Ser)
c.14T>C (p.Phe5Ser)
c.1019T>C (p.Phe340Ser)
12g.112477945T>GCA386791459PTPN11c.1022T>G (p.Phe341Cys)
c.908T>G (p.Phe303Cys)
c.14T>G (p.Phe5Cys)
c.1019T>G (p.Phe340Cys)
12g.112477946T>ACA386791463PTPN11c.1023T>A (p.Phe341Leu)
c.909T>A (p.Phe303Leu)
c.15T>A (p.Phe5Leu)
c.1020T>A (p.Phe340Leu)
12g.112477946T>CCA6798701PTPN11c.1023T>C (p.Phe341=)
c.909T>C (p.Phe303=)
c.15T>C (p.Phe5=)
c.1020T>C (p.Phe340=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112477946T>GCA386791466PTPN11c.1023T>G (p.Phe341Leu)
c.909T>G (p.Phe303Leu)
c.15T>G (p.Phe5Leu)
c.1020T>G (p.Phe340Leu)
12g.112477946T=CA2063775968PTPN11c.1023T= (p.Phe341=)
c.909T= (p.Phe303=)
c.15T= (p.Phe5=)
c.1020T= (p.Phe340=)
12g.112477947T>ACA386791468PTPN11c.1024T>A (p.Trp342Arg)
c.910T>A (p.Trp304Arg)
c.16T>A (p.Trp6Arg)
c.1021T>A (p.Trp341Arg)
12g.112477947T>CCA386791470PTPN11c.1024T>C (p.Trp342Arg)
c.910T>C (p.Trp304Arg)
c.16T>C (p.Trp6Arg)
c.1021T>C (p.Trp341Arg)
12g.112477947T>GCA386791471PTPN11c.1024T>G (p.Trp342Gly)
c.910T>G (p.Trp304Gly)
c.16T>G (p.Trp6Gly)
c.1021T>G (p.Trp341Gly)
12g.112477948G>ACA386791474PTPN11c.1025G>A (p.Trp342Ter)
c.911G>A (p.Trp304Ter)
c.17G>A (p.Trp6Ter)
c.1022G>A (p.Trp341Ter)
COSMIC
12g.112477948G>CCA386791475PTPN11c.1025G>C (p.Trp342Ser)
c.911G>C (p.Trp304Ser)
c.17G>C (p.Trp6Ser)
c.1022G>C (p.Trp341Ser)
12g.112477948G>TCA386791476PTPN11c.1025G>T (p.Trp342Leu)
c.911G>T (p.Trp304Leu)
c.17G>T (p.Trp6Leu)
c.1022G>T (p.Trp341Leu)
12g.112477949G>ACA386791479PTPN11c.1026G>A (p.Trp342Ter)
c.912G>A (p.Trp304Ter)
c.18G>A (p.Trp6Ter)
c.1023G>A (p.Trp341Ter)
12g.112477949G>CCA386791481PTPN11c.1026G>C (p.Trp342Cys)
c.912G>C (p.Trp304Cys)
c.18G>C (p.Trp6Cys)
c.1023G>C (p.Trp341Cys)
12g.112477949G>TCA386791482PTPN11c.1026G>T (p.Trp342Cys)
c.912G>T (p.Trp304Cys)
c.18G>T (p.Trp6Cys)
c.1023G>T (p.Trp341Cys)
12g.112477950C>ACA481887981PTPN11c.1027C>A (p.Arg343=)
c.913C>A (p.Arg305=)
c.19C>A (p.Arg7=)
c.1024C>A (p.Arg342=)
dbSNP gnomAD v2
12g.112477950C=CA2063775969PTPN11c.1027C= (p.Arg343=)
c.913C= (p.Arg305=)
c.19C= (p.Arg7=)
c.1024C= (p.Arg342=)
12g.112477950C>GCA386791484PTPN11c.1027C>G (p.Arg343Gly)
c.913C>G (p.Arg305Gly)
c.19C>G (p.Arg7Gly)
c.1024C>G (p.Arg342Gly)
12g.112477950C>TCA386791486PTPN11c.1027C>T (p.Arg343Trp)
c.913C>T (p.Arg305Trp)
c.19C>T (p.Arg7Trp)
c.1024C>T (p.Arg342Trp)
ClinVar dbSNP gnomAD v4
12g.112477951G>ACA297648PTPN11c.1028G>A (p.Arg343Gln)
c.914G>A (p.Arg305Gln)
c.20G>A (p.Arg7Gln)
c.1025G>A (p.Arg342Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.112477951G>CCA386791489PTPN11c.1028G>C (p.Arg343Pro)
c.914G>C (p.Arg305Pro)
c.20G>C (p.Arg7Pro)
c.1025G>C (p.Arg342Pro)
12g.112477951G=CA2063775970PTPN11c.1028G= (p.Arg343=)
c.914G= (p.Arg305=)
c.20G= (p.Arg7=)
c.1025G= (p.Arg342=)
12g.112477951G>TCA386791490PTPN11c.1028G>T (p.Arg343Leu)
c.914G>T (p.Arg305Leu)
c.20G>T (p.Arg7Leu)
c.1025G>T (p.Arg342Leu)
gnomAD v4
12g.112477952G>ACA481887988PTPN11c.1029G>A (p.Arg343=)
c.915G>A (p.Arg305=)
c.21G>A (p.Arg7=)
c.1026G>A (p.Arg342=)
12g.112477952G>CCA481887989PTPN11c.1029G>C (p.Arg343=)
c.915G>C (p.Arg305=)
c.21G>C (p.Arg7=)
c.1026G>C (p.Arg342=)
12g.112477952G>TCA481887991PTPN11c.1029G>T (p.Arg343=)
c.915G>T (p.Arg305=)
c.21G>T (p.Arg7=)
c.1026G>T (p.Arg342=)
12g.112477953A>CCA386791492PTPN11c.1030A>C (p.Met344Leu)
c.916A>C (p.Met306Leu)
c.22A>C (p.Met8Leu)
c.1027A>C (p.Met343Leu)
dbSNP
12g.112477953A>GCA386791493PTPN11c.1030A>G (p.Met344Val)
c.916A>G (p.Met306Val)
c.22A>G (p.Met8Val)
c.1027A>G (p.Met343Val)
dbSNP
12g.112477953A>TCA386791495PTPN11c.1030A>T (p.Met344Leu)
c.916A>T (p.Met306Leu)
c.22A>T (p.Met8Leu)
c.1027A>T (p.Met343Leu)
dbSNP gnomAD v4
12g.112477954T>ACA386791497PTPN11c.1031T>A (p.Met344Lys)
c.917T>A (p.Met306Lys)
c.23T>A (p.Met8Lys)
c.1028T>A (p.Met343Lys)
12g.112477954T>CCA386791499PTPN11c.1031T>C (p.Met344Thr)
c.917T>C (p.Met306Thr)
c.23T>C (p.Met8Thr)
c.1028T>C (p.Met343Thr)
12g.112477954T>GCA386791500PTPN11c.1031T>G (p.Met344Arg)
c.917T>G (p.Met306Arg)
c.23T>G (p.Met8Arg)
c.1028T>G (p.Met343Arg)
12g.112477955G>ACA386791503PTPN11c.1032G>A (p.Met344Ile)
c.918G>A (p.Met306Ile)
c.24G>A (p.Met8Ile)
c.1029G>A (p.Met343Ile)
ClinVar dbSNP
12g.112477955G>CCA386791504PTPN11c.1032G>C (p.Met344Ile)
c.918G>C (p.Met306Ile)
c.24G>C (p.Met8Ile)
c.1029G>C (p.Met343Ile)
12g.112477955G=CA2063775971PTPN11c.1032G= (p.Met344=)
c.918G= (p.Met306=)
c.24G= (p.Met8=)
c.1029G= (p.Met343=)
12g.112477955G>TCA386791506PTPN11c.1032G>T (p.Met344Ile)
c.918G>T (p.Met306Ile)
c.24G>T (p.Met8Ile)
c.1029G>T (p.Met343Ile)
12g.112477956G>ACA386791508PTPN11c.1033G>A (p.Val345Met)
c.919G>A (p.Val307Met)
c.25G>A (p.Val9Met)
c.1030G>A (p.Val344Met)
dbSNP gnomAD v3 gnomAD v4
12g.112477956G>CCA386791511PTPN11c.1033G>C (p.Val345Leu)
c.919G>C (p.Val307Leu)
c.25G>C (p.Val9Leu)
c.1030G>C (p.Val344Leu)
12g.112477956G=CA2063775972PTPN11c.1033G= (p.Val345=)
c.919G= (p.Val307=)
c.25G= (p.Val9=)
c.1030G= (p.Val344=)
12g.112477956G>TCA386791510PTPN11c.1033G>T (p.Val345Leu)
c.919G>T (p.Val307Leu)
c.25G>T (p.Val9Leu)
c.1030G>T (p.Val344Leu)
12g.112477957T>ACA386791514PTPN11c.1034T>A (p.Val345Glu)
c.920T>A (p.Val307Glu)
c.26T>A (p.Val9Glu)
c.1031T>A (p.Val344Glu)
12g.112477957T>CCA386791515PTPN11c.1034T>C (p.Val345Ala)
c.920T>C (p.Val307Ala)
c.26T>C (p.Val9Ala)
c.1031T>C (p.Val344Ala)
12g.112477957T>GCA386791517PTPN11c.1034T>G (p.Val345Gly)
c.920T>G (p.Val307Gly)
c.26T>G (p.Val9Gly)
c.1031T>G (p.Val344Gly)
12g.112477958G>ACA481888001PTPN11c.1035G>A (p.Val345=)
c.921G>A (p.Val307=)
c.27G>A (p.Val9=)
c.1032G>A (p.Val344=)
dbSNP
12g.112477958G>CCA481888003PTPN11c.1035G>C (p.Val345=)
c.921G>C (p.Val307=)
c.27G>C (p.Val9=)
c.1032G>C (p.Val344=)
gnomAD v4
12g.112477958G>TCA481888004PTPN11c.1035G>T (p.Val345=)
c.921G>T (p.Val307=)
c.27G>T (p.Val9=)
c.1032G>T (p.Val344=)
12g.112477959T>ACA386791519PTPN11c.1036T>A (p.Phe346Ile)
c.922T>A (p.Phe308Ile)
c.28T>A (p.Phe10Ile)
c.1033T>A (p.Phe345Ile)
12g.112477959T>CCA386791521PTPN11c.1036T>C (p.Phe346Leu)
c.922T>C (p.Phe308Leu)
c.28T>C (p.Phe10Leu)
c.1033T>C (p.Phe345Leu)
12g.112477959T>GCA386791522PTPN11c.1036T>G (p.Phe346Val)
c.922T>G (p.Phe308Val)
c.28T>G (p.Phe10Val)
c.1033T>G (p.Phe345Val)
12g.112477960T>ACA386791524PTPN11c.1037T>A (p.Phe346Tyr)
c.923T>A (p.Phe308Tyr)
c.29T>A (p.Phe10Tyr)
c.1034T>A (p.Phe345Tyr)
12g.112477960T>CCA386791526PTPN11c.1037T>C (p.Phe346Ser)
c.923T>C (p.Phe308Ser)
c.29T>C (p.Phe10Ser)
c.1034T>C (p.Phe345Ser)
12g.112477960T>GCA386791527PTPN11c.1037T>G (p.Phe346Cys)
c.923T>G (p.Phe308Cys)
c.29T>G (p.Phe10Cys)
c.1034T>G (p.Phe345Cys)
12g.112477961C>ACA386791529PTPN11c.1038C>A (p.Phe346Leu)
c.924C>A (p.Phe308Leu)
c.30C>A (p.Phe10Leu)
c.1035C>A (p.Phe345Leu)
12g.112477961C>GCA386791531PTPN11c.1038C>G (p.Phe346Leu)
c.924C>G (p.Phe308Leu)
c.30C>G (p.Phe10Leu)
c.1035C>G (p.Phe345Leu)
12g.112477961C>TCA481888008PTPN11c.1038C>T (p.Phe346=)
c.924C>T (p.Phe308=)
c.30C>T (p.Phe10=)
c.1035C>T (p.Phe345=)
12g.112477962C>ACA386791536PTPN11c.1039C>A (p.Gln347Lys)
c.925C>A (p.Gln309Lys)
c.31C>A (p.Gln11Lys)
c.1036C>A (p.Gln346Lys)
ClinVar dbSNP
12g.112477962C=CA2063775973PTPN11c.1039C= (p.Gln347=)
c.925C= (p.Gln309=)
c.31C= (p.Gln11=)
c.1036C= (p.Gln346=)
12g.112477962C>GCA386791535PTPN11c.1039C>G (p.Gln347Glu)
c.925C>G (p.Gln309Glu)
c.31C>G (p.Gln11Glu)
c.1036C>G (p.Gln346Glu)
12g.112477962C>TCA386791533PTPN11c.1039C>T (p.Gln347Ter)
c.925C>T (p.Gln309Ter)
c.31C>T (p.Gln11Ter)
c.1036C>T (p.Gln346Ter)
12g.112477963A=CA2063775974PTPN11c.1040A= (p.Gln347=)
c.926A= (p.Gln309=)
c.32A= (p.Gln11=)
c.1037A= (p.Gln346=)
12g.112477963A>CCA386791538PTPN11c.1040A>C (p.Gln347Pro)
c.926A>C (p.Gln309Pro)
c.32A>C (p.Gln11Pro)
c.1037A>C (p.Gln346Pro)
12g.112477963A>GCA386791539PTPN11c.1040A>G (p.Gln347Arg)
c.926A>G (p.Gln309Arg)
c.32A>G (p.Gln11Arg)
c.1037A>G (p.Gln346Arg)
ClinVar dbSNP
12g.112477963A>TCA386791541PTPN11c.1040A>T (p.Gln347Leu)
c.926A>T (p.Gln309Leu)
c.32A>T (p.Gln11Leu)
c.1037A>T (p.Gln346Leu)
12g.112477964A=CA2063775975PTPN11c.1041A= (p.Gln347=)
c.927A= (p.Gln309=)
c.33A= (p.Gln11=)
c.1038A= (p.Gln346=)
12g.112477964A>CCA386791544PTPN11c.1041A>C (p.Gln347His)
c.927A>C (p.Gln309His)
c.33A>C (p.Gln11His)
c.1038A>C (p.Gln346His)
12g.112477964A>GCA6798702PTPN11c.1041A>G (p.Gln347=)
c.927A>G (p.Gln309=)
c.33A>G (p.Gln11=)
c.1038A>G (p.Gln346=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.112477964A>TCA386791545PTPN11c.1041A>T (p.Gln347His)
c.927A>T (p.Gln309His)
c.33A>T (p.Gln11His)
c.1038A>T (p.Gln346His)
12g.112477965G>ACA386791547PTPN11c.1042G>A (p.Glu348Lys)
c.928G>A (p.Glu310Lys)
c.34G>A (p.Glu12Lys)
c.1039G>A (p.Glu347Lys)
12g.112477965G>CCA386791549PTPN11c.1042G>C (p.Glu348Gln)
c.928G>C (p.Glu310Gln)
c.34G>C (p.Glu12Gln)
c.1039G>C (p.Glu347Gln)
12g.112477965G>TCA386791550PTPN11c.1042G>T (p.Glu348Ter)
c.928G>T (p.Glu310Ter)
c.34G>T (p.Glu12Ter)
c.1039G>T (p.Glu347Ter)
12g.112477966A=CA2063775976PTPN11c.1043A= (p.Glu348=)
c.929A= (p.Glu310=)
c.35A= (p.Glu12=)
c.1040A= (p.Glu347=)
12g.112477966A>CCA386791552PTPN11c.1043A>C (p.Glu348Ala)
c.929A>C (p.Glu310Ala)
c.35A>C (p.Glu12Ala)
c.1040A>C (p.Glu347Ala)
12g.112477966A>GCA386791554PTPN11c.1043A>G (p.Glu348Gly)
c.929A>G (p.Glu310Gly)
c.35A>G (p.Glu12Gly)
c.1040A>G (p.Glu347Gly)
gnomAD v4
12g.112477966A>TCA386791556PTPN11c.1043A>T (p.Glu348Val)
c.929A>T (p.Glu310Val)
c.35A>T (p.Glu12Val)
c.1040A>T (p.Glu347Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.112477967A>CCA386791560PTPN11c.1044A>C (p.Glu348Asp)
c.930A>C (p.Glu310Asp)
c.36A>C (p.Glu12Asp)
c.1041A>C (p.Glu347Asp)
12g.112477967A>GCA481888013PTPN11c.1044A>G (p.Glu348=)
c.930A>G (p.Glu310=)
c.36A>G (p.Glu12=)
c.1041A>G (p.Glu347=)
12g.112477967A>TCA386791558PTPN11c.1044A>T (p.Glu348Asp)
c.930A>T (p.Glu310Asp)
c.36A>T (p.Glu12Asp)
c.1041A>T (p.Glu347Asp)
12g.112477968A=CA2063775977PTPN11c.1045A= (p.Asn349=)
c.931A= (p.Asn311=)
c.37A= (p.Asn13=)
c.1042A= (p.Asn348=)
12g.112477968A>CCA386791562PTPN11c.1045A>C (p.Asn349His)
c.931A>C (p.Asn311His)
c.37A>C (p.Asn13His)
c.1042A>C (p.Asn348His)
12g.112477968A>GCA243712035PTPN11c.1045A>G (p.Asn349Asp)
c.931A>G (p.Asn311Asp)
c.37A>G (p.Asn13Asp)
c.1042A>G (p.Asn348Asp)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.112477968A>TCA386791564PTPN11c.1045A>T (p.Asn349Tyr)
c.931A>T (p.Asn311Tyr)
c.37A>T (p.Asn13Tyr)
c.1042A>T (p.Asn348Tyr)
12g.112477969A>CCA386791566PTPN11c.1046A>C (p.Asn349Thr)
c.932A>C (p.Asn311Thr)
c.38A>C (p.Asn13Thr)
c.1043A>C (p.Asn348Thr)
12g.112477969A>GCA386791568PTPN11c.1046A>G (p.Asn349Ser)
c.932A>G (p.Asn311Ser)
c.38A>G (p.Asn13Ser)
c.1043A>G (p.Asn348Ser)
12g.112477969A>TCA386791588PTPN11c.1046A>T (p.Asn349Ile)
c.932A>T (p.Asn311Ile)
c.38A>T (p.Asn13Ile)
c.1043A>T (p.Asn348Ile)
12g.112477970C>ACA386791590PTPN11c.1047C>A (p.Asn349Lys)
c.933C>A (p.Asn311Lys)
c.39C>A (p.Asn13Lys)
c.1044C>A (p.Asn348Lys)
12g.112477970C=CA2063775978PTPN11c.1047C= (p.Asn349=)
c.933C= (p.Asn311=)
c.39C= (p.Asn13=)
c.1044C= (p.Asn348=)
12g.112477970C>GCA386791591PTPN11c.1047C>G (p.Asn349Lys)
c.933C>G (p.Asn311Lys)
c.39C>G (p.Asn13Lys)
c.1044C>G (p.Asn348Lys)
12g.112477970C>TCA481888023PTPN11c.1047C>T (p.Asn349=)
c.933C>T (p.Asn311=)
c.39C>T (p.Asn13=)
c.1044C>T (p.Asn348=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.112477971T>ACA386791593PTPN11c.1048T>A (p.Ser350Thr)
c.934T>A (p.Ser312Thr)
c.40T>A (p.Ser14Thr)
c.1045T>A (p.Ser349Thr)
12g.112477971T>CCA386791596PTPN11c.1048T>C (p.Ser350Pro)
c.934T>C (p.Ser312Pro)
c.40T>C (p.Ser14Pro)
c.1045T>C (p.Ser349Pro)
12g.112477971T>GCA282111PTPN11c.1048T>G (p.Ser350Ala)
c.934T>G (p.Ser312Ala)
c.40T>G (p.Ser14Ala)
c.1045T>G (p.Ser349Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112477971T=CA2063775979PTPN11c.1048T= (p.Ser350=)
c.934T= (p.Ser312=)
c.40T= (p.Ser14=)
c.1045T= (p.Ser349=)
12g.112477972C>ACA386791599PTPN11c.1049C>A (p.Ser350Tyr)
c.935C>A (p.Ser312Tyr)
c.41C>A (p.Ser14Tyr)
c.1046C>A (p.Ser349Tyr)
ClinVar dbSNP
12g.112477972C>GCA386791603PTPN11c.1049C>G (p.Ser350Cys)
c.935C>G (p.Ser312Cys)
c.41C>G (p.Ser14Cys)
c.1046C>G (p.Ser349Cys)
12g.112477972C>TCA386791604PTPN11c.1049C>T (p.Ser350Phe)
c.935C>T (p.Ser312Phe)
c.41C>T (p.Ser14Phe)
c.1046C>T (p.Ser349Phe)
12g.112477973C>ACA481888030PTPN11c.1050C>A (p.Ser350=)
c.936C>A (p.Ser312=)
c.42C>A (p.Ser14=)
c.1047C>A (p.Ser349=)
12g.112477973C>GCA481888031PTPN11c.1050C>G (p.Ser350=)
c.936C>G (p.Ser312=)
c.42C>G (p.Ser14=)
c.1047C>G (p.Ser349=)
12g.112477973C>TCA481888032PTPN11c.1050C>T (p.Ser350=)
c.936C>T (p.Ser312=)
c.42C>T (p.Ser14=)
c.1047C>T (p.Ser349=)
gnomAD v4
12g.112477974C>ACA481888036PTPN11c.1051C>A (p.Arg351=)
c.937C>A (p.Arg313=)
c.43C>A (p.Arg15=)
c.1048C>A (p.Arg350=)
dbSNP
12g.112477974C=CA2063775980PTPN11c.1051C= (p.Arg351=)
c.937C= (p.Arg313=)
c.43C= (p.Arg15=)
c.1048C= (p.Arg350=)
12g.112477974C>GCA386791607PTPN11c.1051C>G (p.Arg351Gly)
c.937C>G (p.Arg313Gly)
c.43C>G (p.Arg15Gly)
c.1048C>G (p.Arg350Gly)
12g.112477974C>TCA16042873PTPN11c.1051C>T (p.Arg351Ter)
c.937C>T (p.Arg313Ter)
c.43C>T (p.Arg15Ter)
c.1048C>T (p.Arg350Ter)
ClinVar dbSNP gnomAD v4
12g.112477975G>ACA282114PTPN11c.1052G>A (p.Arg351Gln)
c.938G>A (p.Arg313Gln)
c.44G>A (p.Arg15Gln)
c.1049G>A (p.Arg350Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112477975G>CCA386791609PTPN11c.1052G>C (p.Arg351Pro)
c.938G>C (p.Arg313Pro)
c.44G>C (p.Arg15Pro)
c.1049G>C (p.Arg350Pro)
dbSNP gnomAD v4
12g.112477975G=CA2063775981PTPN11c.1052G= (p.Arg351=)
c.938G= (p.Arg313=)
c.44G= (p.Arg15=)
c.1049G= (p.Arg350=)
12g.112477975G>TCA386791608PTPN11c.1052G>T (p.Arg351Leu)
c.938G>T (p.Arg313Leu)
c.44G>T (p.Arg15Leu)
c.1049G>T (p.Arg350Leu)
dbSNP
12g.112477976A=CA2063775982PTPN11c.1053A= (p.Arg351=)
c.939A= (p.Arg313=)
c.45A= (p.Arg15=)
c.1050A= (p.Arg350=)
12g.112477976A>CCA481888039PTPN11c.1053A>C (p.Arg351=)
c.939A>C (p.Arg313=)
c.45A>C (p.Arg15=)
c.1050A>C (p.Arg350=)
gnomAD v4
12g.112477976A>GCA243712046PTPN11c.1053A>G (p.Arg351=)
c.939A>G (p.Arg313=)
c.45A>G (p.Arg15=)
c.1050A>G (p.Arg350=)
dbSNP gnomAD v4
12g.112477976A>TCA481888038PTPN11c.1053A>T (p.Arg351=)
c.939A>T (p.Arg313=)
c.45A>T (p.Arg15=)
c.1050A>T (p.Arg350=)
12g.112477977G>ACA386791613PTPN11c.1054G>A (p.Val352Met)
c.940G>A (p.Val314Met)
c.46G>A (p.Val16Met)
c.1051G>A (p.Val351Met)
12g.112477977G>CCA6798703PTPN11c.1054G>C (p.Val352Leu)
c.940G>C (p.Val314Leu)
c.46G>C (p.Val16Leu)
c.1051G>C (p.Val351Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112477977G=CA2063775983PTPN11c.1054G= (p.Val352=)
c.940G= (p.Val314=)
c.46G= (p.Val16=)
c.1051G= (p.Val351=)
12g.112477977G>TCA386791616PTPN11c.1054G>T (p.Val352Leu)
c.940G>T (p.Val314Leu)
c.46G>T (p.Val16Leu)
c.1051G>T (p.Val351Leu)
12g.112477978T>ACA386791618PTPN11c.1055T>A (p.Val352Glu)
c.941T>A (p.Val314Glu)
c.47T>A (p.Val16Glu)
c.1052T>A (p.Val351Glu)
12g.112477978T>CCA386791620PTPN11c.1055T>C (p.Val352Ala)
c.941T>C (p.Val314Ala)
c.47T>C (p.Val16Ala)
c.1052T>C (p.Val351Ala)
12g.112477978T>GCA386791622PTPN11c.1055T>G (p.Val352Gly)
c.941T>G (p.Val314Gly)
c.47T>G (p.Val16Gly)
c.1052T>G (p.Val351Gly)
12g.112477979G>ACA481888044PTPN11c.1056G>A (p.Val352=)
c.942G>A (p.Val314=)
c.48G>A (p.Val16=)
c.1053G>A (p.Val351=)
dbSNP gnomAD v2 gnomAD v4
12g.112477979G>CCA481888045PTPN11c.1056G>C (p.Val352=)
c.942G>C (p.Val314=)
c.48G>C (p.Val16=)
c.1053G>C (p.Val351=)
12g.112477979G=CA2063775984PTPN11c.1056G= (p.Val352=)
c.942G= (p.Val314=)
c.48G= (p.Val16=)
c.1053G= (p.Val351=)
12g.112477979G>TCA481888046PTPN11c.1056G>T (p.Val352=)
c.942G>T (p.Val314=)
c.48G>T (p.Val16=)
c.1053G>T (p.Val351=)
12g.112477980A=CA2063775985PTPN11c.1057A= (p.Ile353=)
c.943A= (p.Ile315=)
c.49A= (p.Ile17=)
c.1054A= (p.Ile352=)
12g.112477980A>CCA6798704PTPN11c.1057A>C (p.Ile353Leu)
c.943A>C (p.Ile315Leu)
c.49A>C (p.Ile17Leu)
c.1054A>C (p.Ile352Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.112477980A>GCA386791625PTPN11c.1057A>G (p.Ile353Val)
c.943A>G (p.Ile315Val)
c.49A>G (p.Ile17Val)
c.1054A>G (p.Ile352Val)
dbSNP gnomAD v3 gnomAD v4
12g.112477980A>TCA386791626PTPN11c.1057A>T (p.Ile353Phe)
c.943A>T (p.Ile315Phe)
c.49A>T (p.Ile17Phe)
c.1054A>T (p.Ile352Phe)
12g.112477981T>ACA386791630PTPN11c.1058T>A (p.Ile353Asn)
c.944T>A (p.Ile315Asn)
c.50T>A (p.Ile17Asn)
c.1055T>A (p.Ile352Asn)
12g.112477981T>CCA386791631PTPN11c.1058T>C (p.Ile353Thr)
c.944T>C (p.Ile315Thr)
c.50T>C (p.Ile17Thr)
c.1055T>C (p.Ile352Thr)
12g.112477981T>GCA386791628PTPN11c.1058T>G (p.Ile353Ser)
c.944T>G (p.Ile315Ser)
c.50T>G (p.Ile17Ser)
c.1055T>G (p.Ile352Ser)
12g.112477982T>ACA481888048PTPN11c.1059T>A (p.Ile353=)
c.945T>A (p.Ile315=)
c.51T>A (p.Ile17=)
c.1056T>A (p.Ile352=)
12g.112477982T>CCA481888047PTPN11c.1059T>C (p.Ile353=)
c.945T>C (p.Ile315=)
c.51T>C (p.Ile17=)
c.1056T>C (p.Ile352=)
12g.112477982T>GCA386791633PTPN11c.1059T>G (p.Ile353Met)
c.945T>G (p.Ile315Met)
c.51T>G (p.Ile17Met)
c.1056T>G (p.Ile352Met)
12g.112477983G>ACA386791637PTPN11c.1060G>A (p.Val354Ile)
c.946G>A (p.Val316Ile)
c.52G>A (p.Val18Ile)
c.1057G>A (p.Val353Ile)
12g.112477983G>CCA386791638PTPN11c.1060G>C (p.Val354Leu)
c.946G>C (p.Val316Leu)
c.52G>C (p.Val18Leu)
c.1057G>C (p.Val353Leu)
12g.112477983G>TCA386791640PTPN11c.1060G>T (p.Val354Phe)
c.946G>T (p.Val316Phe)
c.52G>T (p.Val18Phe)
c.1057G>T (p.Val353Phe)
12g.112477984T>ACA386791642PTPN11c.1061T>A (p.Val354Asp)
c.947T>A (p.Val316Asp)
c.53T>A (p.Val18Asp)
c.1058T>A (p.Val353Asp)
12g.112477984T>CCA386791644PTPN11c.1061T>C (p.Val354Ala)
c.947T>C (p.Val316Ala)
c.53T>C (p.Val18Ala)
c.1058T>C (p.Val353Ala)
12g.112477984T>GCA386791645PTPN11c.1061T>G (p.Val354Gly)
c.947T>G (p.Val316Gly)
c.53T>G (p.Val18Gly)
c.1058T>G (p.Val353Gly)
12g.112477985C>ACA481888049PTPN11c.1062C>A (p.Val354=)
c.948C>A (p.Val316=)
c.54C>A (p.Val18=)
c.1059C>A (p.Val353=)
dbSNP
12g.112477985C=CA2063775986PTPN11c.1062C= (p.Val354=)
c.948C= (p.Val316=)
c.54C= (p.Val18=)
c.1059C= (p.Val353=)
12g.112477985C>GCA481888050PTPN11c.1062C>G (p.Val354=)
c.948C>G (p.Val316=)
c.54C>G (p.Val18=)
c.1059C>G (p.Val353=)
12g.112477985C>TCA481888051PTPN11c.1062C>T (p.Val354=)
c.948C>T (p.Val316=)
c.54C>T (p.Val18=)
c.1059C>T (p.Val353=)
dbSNP
12g.112477986A>CCA386791648PTPN11c.1063A>C (p.Met355Leu)
c.949A>C (p.Met317Leu)
c.55A>C (p.Met19Leu)
c.1060A>C (p.Met354Leu)
12g.112477986A>GCA386791649PTPN11c.1063A>G (p.Met355Val)
c.949A>G (p.Met317Val)
c.55A>G (p.Met19Val)
c.1060A>G (p.Met354Val)
12g.112477986A>TCA386791651PTPN11c.1063A>T (p.Met355Leu)
c.949A>T (p.Met317Leu)
c.55A>T (p.Met19Leu)
c.1060A>T (p.Met354Leu)
12g.112477987T>ACA386791653PTPN11c.1064T>A (p.Met355Lys)
c.950T>A (p.Met317Lys)
c.56T>A (p.Met19Lys)
c.1061T>A (p.Met354Lys)
12g.112477987T>CCA386791654PTPN11c.1064T>C (p.Met355Thr)
c.950T>C (p.Met317Thr)
c.56T>C (p.Met19Thr)
c.1061T>C (p.Met354Thr)
dbSNP COSMIC
12g.112477987T>GCA386791655PTPN11c.1064T>G (p.Met355Arg)
c.950T>G (p.Met317Arg)
c.56T>G (p.Met19Arg)
c.1061T>G (p.Met354Arg)
12g.112477987T=CA2063775987PTPN11c.1064T= (p.Met355=)
c.950T= (p.Met317=)
c.56T= (p.Met19=)
c.1061T= (p.Met354=)
12g.112477988G>ACA386791659PTPN11c.1065G>A (p.Met355Ile)
c.951G>A (p.Met317Ile)
c.57G>A (p.Met19Ile)
c.1062G>A (p.Met354Ile)
gnomAD v4
12g.112477988G>CCA386791657PTPN11c.1065G>C (p.Met355Ile)
c.951G>C (p.Met317Ile)
c.57G>C (p.Met19Ile)
c.1062G>C (p.Met354Ile)
12g.112477988G>TCA386791656PTPN11c.1065G>T (p.Met355Ile)
c.951G>T (p.Met317Ile)
c.57G>T (p.Met19Ile)
c.1062G>T (p.Met354Ile)
12g.112477989A>CCA386791661PTPN11c.1066A>C (p.Thr356Pro)
c.952A>C (p.Thr318Pro)
c.58A>C (p.Thr20Pro)
c.1063A>C (p.Thr355Pro)
12g.112477989A>GCA386791663PTPN11c.1066A>G (p.Thr356Ala)
c.952A>G (p.Thr318Ala)
c.58A>G (p.Thr20Ala)
c.1063A>G (p.Thr355Ala)
12g.112477989A>TCA386791664PTPN11c.1066A>T (p.Thr356Ser)
c.952A>T (p.Thr318Ser)
c.58A>T (p.Thr20Ser)
c.1063A>T (p.Thr355Ser)
12g.112477990C>ACA386791666PTPN11c.1067C>A (p.Thr356Lys)
c.953C>A (p.Thr318Lys)
c.59C>A (p.Thr20Lys)
c.1064C>A (p.Thr355Lys)
12g.112477990C>GCA386791668PTPN11c.1067C>G (p.Thr356Arg)
c.953C>G (p.Thr318Arg)
c.59C>G (p.Thr20Arg)
c.1064C>G (p.Thr355Arg)
12g.112477990C>TCA386791669PTPN11c.1067C>T (p.Thr356Ile)
c.953C>T (p.Thr318Ile)
c.59C>T (p.Thr20Ile)
c.1064C>T (p.Thr355Ile)
12g.112477991A>CCA481888052PTPN11c.1068A>C (p.Thr356=)
c.954A>C (p.Thr318=)
c.60A>C (p.Thr20=)
c.1065A>C (p.Thr355=)
12g.112477991A>GCA481888053PTPN11c.1068A>G (p.Thr356=)
c.954A>G (p.Thr318=)
c.60A>G (p.Thr20=)
c.1065A>G (p.Thr355=)
gnomAD v4
12g.112477991A>TCA481888054PTPN11c.1068A>T (p.Thr356=)
c.954A>T (p.Thr318=)
c.60A>T (p.Thr20=)
c.1065A>T (p.Thr355=)
12g.112477992A=CA2063775988PTPN11c.1069A= (p.Thr357=)
c.955A= (p.Thr319=)
c.61A= (p.Thr21=)
c.1066A= (p.Thr356=)
12g.112477992A>CCA386791672PTPN11c.1069A>C (p.Thr357Pro)
c.955A>C (p.Thr319Pro)
c.61A>C (p.Thr21Pro)
c.1066A>C (p.Thr356Pro)
12g.112477992A>GCA6798705PTPN11c.1069A>G (p.Thr357Ala)
c.955A>G (p.Thr319Ala)
c.61A>G (p.Thr21Ala)
c.1066A>G (p.Thr356Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.112477992A>TCA386791674PTPN11c.1069A>T (p.Thr357Ser)
c.955A>T (p.Thr319Ser)
c.61A>T (p.Thr21Ser)
c.1066A>T (p.Thr356Ser)
12g.112477993delCA2573147995PTPN11c.1070del (p.Thr357ArgfsTer21)
c.956del (p.Thr319ArgfsTer21)
c.62del (p.Thr21ArgfsTer21)
c.1067del (p.Thr356ArgfsTer21)
ClinVar dbSNP
12g.112477993C>ACA386791675PTPN11c.1070C>A (p.Thr357Lys)
c.956C>A (p.Thr319Lys)
c.62C>A (p.Thr21Lys)
c.1067C>A (p.Thr356Lys)
12g.112477993C>GCA386791676PTPN11c.1070C>G (p.Thr357Arg)
c.956C>G (p.Thr319Arg)
c.62C>G (p.Thr21Arg)
c.1067C>G (p.Thr356Arg)
dbSNP
12g.112477993C>TCA386791678PTPN11c.1070C>T (p.Thr357Met)
c.956C>T (p.Thr319Met)
c.62C>T (p.Thr21Met)
c.1067C>T (p.Thr356Met)
dbSNP gnomAD v4
12g.112477994G>ACA6798706PTPN11c.1071G>A (p.Thr357=)
c.957G>A (p.Thr319=)
c.63G>A (p.Thr21=)
c.1068G>A (p.Thr356=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.112477994G>CCA481888055PTPN11c.1071G>C (p.Thr357=)
c.957G>C (p.Thr319=)
c.63G>C (p.Thr21=)
c.1068G>C (p.Thr356=)
ClinVar dbSNP
12g.112477994G=CA2063775989PTPN11c.1071G= (p.Thr357=)
c.957G= (p.Thr319=)
c.63G= (p.Thr21=)
c.1068G= (p.Thr356=)
12g.112477994G>TCA481888056PTPN11c.1071G>T (p.Thr357=)
c.957G>T (p.Thr319=)
c.63G>T (p.Thr21=)
c.1068G>T (p.Thr356=)
12g.112477995A>CCA386791681PTPN11c.1072A>C (p.Lys358Gln)
c.958A>C (p.Lys320Gln)
c.64A>C (p.Lys22Gln)
c.1069A>C (p.Lys357Gln)
12g.112477995A>GCA386791686PTPN11c.1072A>G (p.Lys358Glu)
c.958A>G (p.Lys320Glu)
c.64A>G (p.Lys22Glu)
c.1069A>G (p.Lys357Glu)
12g.112477995A>TCA386791683PTPN11c.1072A>T (p.Lys358Ter)
c.958A>T (p.Lys320Ter)
c.64A>T (p.Lys22Ter)
c.1069A>T (p.Lys357Ter)
12g.112477996A>CCA386791688PTPN11c.1073A>C (p.Lys358Thr)
c.959A>C (p.Lys320Thr)
c.65A>C (p.Lys22Thr)
c.1070A>C (p.Lys357Thr)
12g.112477996A>GCA386791691PTPN11c.1073A>G (p.Lys358Arg)
c.959A>G (p.Lys320Arg)
c.65A>G (p.Lys22Arg)
c.1070A>G (p.Lys357Arg)
12g.112477996A>TCA386791689PTPN11c.1073A>T (p.Lys358Ile)
c.959A>T (p.Lys320Ile)
c.65A>T (p.Lys22Ile)
c.1070A>T (p.Lys357Ile)
12g.112477997A>CCA386791693PTPN11c.1074A>C (p.Lys358Asn)
c.960A>C (p.Lys320Asn)
c.66A>C (p.Lys22Asn)
c.1071A>C (p.Lys357Asn)
12g.112477997A>GCA481888057PTPN11c.1074A>G (p.Lys358=)
c.960A>G (p.Lys320=)
c.66A>G (p.Lys22=)
c.1071A>G (p.Lys357=)
12g.112477997A>TCA386791694PTPN11c.1074A>T (p.Lys358Asn)
c.960A>T (p.Lys320Asn)
c.66A>T (p.Lys22Asn)
c.1071A>T (p.Lys357Asn)
12g.112477998G>ACA386791697PTPN11c.1075G>A (p.Glu359Lys)
c.961G>A (p.Glu321Lys)
c.67G>A (p.Glu23Lys)
c.1072G>A (p.Glu358Lys)
12g.112477998G>CCA386791701PTPN11c.1075G>C (p.Glu359Gln)
c.961G>C (p.Glu321Gln)
c.67G>C (p.Glu23Gln)
c.1072G>C (p.Glu358Gln)
gnomAD v4
12g.112477998G>TCA386791699PTPN11c.1075G>T (p.Glu359Ter)
c.961G>T (p.Glu321Ter)
c.67G>T (p.Glu23Ter)
c.1072G>T (p.Glu358Ter)
ClinVar dbSNP
12g.112477999A>CCA386791702PTPN11c.1076A>C (p.Glu359Ala)
c.962A>C (p.Glu321Ala)
c.68A>C (p.Glu23Ala)
c.1073A>C (p.Glu358Ala)
12g.112477999A>GCA386791704PTPN11c.1076A>G (p.Glu359Gly)
c.962A>G (p.Glu321Gly)
c.68A>G (p.Glu23Gly)
c.1073A>G (p.Glu358Gly)
12g.112477999A>TCA386791706PTPN11c.1076A>T (p.Glu359Val)
c.962A>T (p.Glu321Val)
c.68A>T (p.Glu23Val)
c.1073A>T (p.Glu358Val)
12g.112478000A>CCA386791707PTPN11c.1077A>C (p.Glu359Asp)
c.963A>C (p.Glu321Asp)
c.69A>C (p.Glu23Asp)
c.1074A>C (p.Glu358Asp)
12g.112478000A>GCA481888059PTPN11c.1077A>G (p.Glu359=)
c.963A>G (p.Glu321=)
c.69A>G (p.Glu23=)
c.1074A>G (p.Glu358=)
12g.112478000A>TCA386791709PTPN11c.1077A>T (p.Glu359Asp)
c.963A>T (p.Glu321Asp)
c.69A>T (p.Glu23Asp)
c.1074A>T (p.Glu358Asp)
12g.112478001G>ACA386791710PTPN11c.1078G>A (p.Val360Met)
c.964G>A (p.Val322Met)
c.70G>A (p.Val24Met)
c.1075G>A (p.Val359Met)
ClinVar
12g.112478001G>CCA386791712PTPN11c.1078G>C (p.Val360Leu)
c.964G>C (p.Val322Leu)
c.70G>C (p.Val24Leu)
c.1075G>C (p.Val359Leu)
12g.112478001G>TCA386791714PTPN11c.1078G>T (p.Val360Leu)
c.964G>T (p.Val322Leu)
c.70G>T (p.Val24Leu)
c.1075G>T (p.Val359Leu)
12g.112478002T>ACA386791715PTPN11c.1079T>A (p.Val360Glu)
c.965T>A (p.Val322Glu)
c.71T>A (p.Val24Glu)
c.1076T>A (p.Val359Glu)
12g.112478002T>CCA386791716PTPN11c.1079T>C (p.Val360Ala)
c.965T>C (p.Val322Ala)
c.71T>C (p.Val24Ala)
c.1076T>C (p.Val359Ala)
12g.112478002T>GCA386791718PTPN11c.1079T>G (p.Val360Gly)
c.965T>G (p.Val322Gly)
c.71T>G (p.Val24Gly)
c.1076T>G (p.Val359Gly)
12g.112478003G>ACA481888060PTPN11c.1080G>A (p.Val360=)
c.966G>A (p.Val322=)
c.72G>A (p.Val24=)
c.1077G>A (p.Val359=)
12g.112478003G>CCA481888061PTPN11c.1080G>C (p.Val360=)
c.966G>C (p.Val322=)
c.72G>C (p.Val24=)
c.1077G>C (p.Val359=)
12g.112478003G>TCA481888062PTPN11c.1080G>T (p.Val360=)
c.966G>T (p.Val322=)
c.72G>T (p.Val24=)
c.1077G>T (p.Val359=)
12g.112478004G>ACA386791724PTPN11c.1081G>A (p.Glu361Lys)
c.967G>A (p.Glu323Lys)
c.73G>A (p.Glu25Lys)
c.1078G>A (p.Glu360Lys)
12g.112478004G>CCA386791722PTPN11c.1081G>C (p.Glu361Gln)
c.967G>C (p.Glu323Gln)
c.73G>C (p.Glu25Gln)
c.1078G>C (p.Glu360Gln)
dbSNP
12g.112478004G=CA2063775990PTPN11c.1081G= (p.Glu361=)
c.967G= (p.Glu323=)
c.73G= (p.Glu25=)
c.1078G= (p.Glu360=)
12g.112478004G>TCA386791720PTPN11c.1081G>T (p.Glu361Ter)
c.967G>T (p.Glu323Ter)
c.73G>T (p.Glu25Ter)
c.1078G>T (p.Glu360Ter)
12g.112478005A>CCA386791726PTPN11c.1082A>C (p.Glu361Ala)
c.968A>C (p.Glu323Ala)
c.74A>C (p.Glu25Ala)
c.1079A>C (p.Glu360Ala)
12g.112478005A>GCA386791727PTPN11c.1082A>G (p.Glu361Gly)
c.968A>G (p.Glu323Gly)
c.74A>G (p.Glu25Gly)
c.1079A>G (p.Glu360Gly)
dbSNP
12g.112478005A>TCA386791728PTPN11c.1082A>T (p.Glu361Val)
c.968A>T (p.Glu323Val)
c.74A>T (p.Glu25Val)
c.1079A>T (p.Glu360Val)
12g.112478006G>ACA481888063PTPN11c.1083G>A (p.Glu361=)
c.969G>A (p.Glu323=)
c.75G>A (p.Glu25=)
c.1080G>A (p.Glu360=)
12g.112478006G>CCA386791730PTPN11c.1083G>C (p.Glu361Asp)
c.969G>C (p.Glu323Asp)
c.75G>C (p.Glu25Asp)
c.1080G>C (p.Glu360Asp)
12g.112478006G>TCA386791732PTPN11c.1083G>T (p.Glu361Asp)
c.969G>T (p.Glu323Asp)
c.75G>T (p.Glu25Asp)
c.1080G>T (p.Glu360Asp)

Number of alleles fetched