Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.112482073G>ACA386775446PTPN11c.1093-1G>A (n.1093-1G>A)
c.979-1G>A (n.979-1G>A)
n.302-1G>A
c.85-1G>A (n.85-1G>A)
c.1090-1G>A (n.1090-1G>A)
12g.112482073G>CCA386775443PTPN11c.1093-1G>C (n.1093-1G>C)
c.979-1G>C (n.979-1G>C)
n.302-1G>C
c.85-1G>C (n.85-1G>C)
c.1090-1G>C (n.1090-1G>C)
 dbSNP
12g.112482073G=CA2063779323PTPN11c.1093-1G= (n.1093-1G=)
c.979-1G= (n.979-1G=)
n.302-1G=
c.85-1G= (n.85-1G=)
c.1090-1G= (n.1090-1G=)
12g.112482073G>TCA129808PTPN11c.1093-1G>T (n.1093-1G>T)
c.979-1G>T (n.979-1G>T)
n.302-1G>T
c.85-1G>T (n.85-1G>T)
c.1090-1G>T (n.1090-1G>T)
 ClinVar dbSNP
12g.112482074A=CA2063779327PTPN11c.1093A= (p.Ser365=)
c.979A= (p.Ser327=)
n.302A=
c.85A= (p.Ser29=)
c.1090A= (p.Ser364=)
12g.112482074A>CCA386775448PTPN11c.1093A>C (p.Ser365Arg)
c.979A>C (p.Ser327Arg)
n.302A>C
c.85A>C (p.Ser29Arg)
c.1090A>C (p.Ser364Arg)
 ClinVar dbSNP
12g.112482074A>GCA386775452PTPN11c.1093A>G (p.Ser365Gly)
c.979A>G (p.Ser327Gly)
n.302A>G
c.85A>G (p.Ser29Gly)
c.1090A>G (p.Ser364Gly)
12g.112482074A>TCA386775450PTPN11c.1093A>T (p.Ser365Cys)
c.979A>T (p.Ser327Cys)
n.302A>T
c.85A>T (p.Ser29Cys)
c.1090A>T (p.Ser364Cys)
12g.112482075G>ACA386775455PTPN11c.1094G>A (p.Ser365Asn)
c.980G>A (p.Ser327Asn)
n.303G>A
c.86G>A (p.Ser29Asn)
c.1091G>A (p.Ser364Asn)
12g.112482075G>CCA386775459PTPN11c.1094G>C (p.Ser365Thr)
c.980G>C (p.Ser327Thr)
n.303G>C
c.86G>C (p.Ser29Thr)
c.1091G>C (p.Ser364Thr)
12g.112482075G>TCA386775457PTPN11c.1094G>T (p.Ser365Ile)
c.980G>T (p.Ser327Ile)
n.303G>T
c.86G>T (p.Ser29Ile)
c.1091G>T (p.Ser364Ile)
12g.112482076T>ACA386775461PTPN11c.1095T>A (p.Ser365Arg)
c.981T>A (p.Ser327Arg)
n.304T>A
c.87T>A (p.Ser29Arg)
c.1092T>A (p.Ser364Arg)
 ClinVar
12g.112482076T>CCA243711066PTPN11c.1095T>C (p.Ser365=)
c.981T>C (p.Ser327=)
n.304T>C
c.87T>C (p.Ser29=)
c.1092T>C (p.Ser364=)
 dbSNP
12g.112482076T>GCA386775463PTPN11c.1095T>G (p.Ser365Arg)
c.981T>G (p.Ser327Arg)
n.304T>G
c.87T>G (p.Ser29Arg)
c.1092T>G (p.Ser364Arg)
12g.112482076T=CA2063779331PTPN11c.1095T= (p.Ser365=)
c.981T= (p.Ser327=)
n.304T=
c.87T= (p.Ser29=)
c.1092T= (p.Ser364=)
12g.112482077A>CCA386775466PTPN11c.1096A>C (p.Lys366Gln)
c.982A>C (p.Lys328Gln)
n.305A>C
c.88A>C (p.Lys30Gln)
c.1093A>C (p.Lys365Gln)
12g.112482077A>GCA386775468PTPN11c.1096A>G (p.Lys366Glu)
c.982A>G (p.Lys328Glu)
n.305A>G
c.88A>G (p.Lys30Glu)
c.1093A>G (p.Lys365Glu)
12g.112482077A>TCA386775470PTPN11c.1096A>T (p.Lys366Ter)
c.982A>T (p.Lys328Ter)
n.305A>T
c.88A>T (p.Lys30Ter)
c.1093A>T (p.Lys365Ter)
12g.112482078A>CCA386775473PTPN11c.1097A>C (p.Lys366Thr)
c.983A>C (p.Lys328Thr)
n.306A>C
c.89A>C (p.Lys30Thr)
c.1094A>C (p.Lys365Thr)
12g.112482078A>GCA386775476PTPN11c.1097A>G (p.Lys366Arg)
c.983A>G (p.Lys328Arg)
n.306A>G
c.89A>G (p.Lys30Arg)
c.1094A>G (p.Lys365Arg)
12g.112482078A>TCA386775478PTPN11c.1097A>T (p.Lys366Ile)
c.983A>T (p.Lys328Ile)
n.306A>T
c.89A>T (p.Lys30Ile)
c.1094A>T (p.Lys365Ile)
12g.112482079A>CCA386775480PTPN11c.1098A>C (p.Lys366Asn)
c.984A>C (p.Lys328Asn)
n.307A>C
c.90A>C (p.Lys30Asn)
c.1095A>C (p.Lys365Asn)
12g.112482079A>GCA481880151PTPN11c.1098A>G (p.Lys366=)
c.984A>G (p.Lys328=)
n.307A>G
c.90A>G (p.Lys30=)
c.1095A>G (p.Lys365=)
 ClinVar dbSNP
12g.112482079A>TCA386775482PTPN11c.1098A>T (p.Lys366Asn)
c.984A>T (p.Lys328Asn)
n.307A>T
c.90A>T (p.Lys30Asn)
c.1095A>T (p.Lys365Asn)
12g.112482080T>ACA386775485PTPN11c.1099T>A (p.Cys367Ser)
c.985T>A (p.Cys329Ser)
n.308T>A
c.91T>A (p.Cys31Ser)
c.1096T>A (p.Cys366Ser)
12g.112482080T>CCA386775487PTPN11c.1099T>C (p.Cys367Arg)
c.985T>C (p.Cys329Arg)
n.308T>C
c.91T>C (p.Cys31Arg)
c.1096T>C (p.Cys366Arg)
12g.112482080T>GCA386775489PTPN11c.1099T>G (p.Cys367Gly)
c.985T>G (p.Cys329Gly)
n.308T>G
c.91T>G (p.Cys31Gly)
c.1096T>G (p.Cys366Gly)
12g.112482083_112482084delCA2575298953PTPN11c.1102_1103del (p.Val368GlnfsTer5)
c.988_989del (p.Val330GlnfsTer5)
n.311_312del
c.94_95del (p.Val32GlnfsTer5)
c.1099_1100del (p.Val367GlnfsTer5)
12g.112482081G>ACA386775494PTPN11c.1100G>A (p.Cys367Tyr)
c.986G>A (p.Cys329Tyr)
n.309G>A
c.92G>A (p.Cys31Tyr)
c.1097G>A (p.Cys366Tyr)
12g.112482081G>CCA386775491PTPN11c.1100G>C (p.Cys367Ser)
c.986G>C (p.Cys329Ser)
n.309G>C
c.92G>C (p.Cys31Ser)
c.1097G>C (p.Cys366Ser)
12g.112482081G>TCA386775492PTPN11c.1100G>T (p.Cys367Phe)
c.986G>T (p.Cys329Phe)
n.309G>T
c.92G>T (p.Cys31Phe)
c.1097G>T (p.Cys366Phe)
12g.112482082T>ACA386775496PTPN11c.1101T>A (p.Cys367Ter)
c.987T>A (p.Cys329Ter)
n.310T>A
c.93T>A (p.Cys31Ter)
c.1098T>A (p.Cys366Ter)
12g.112482082T>CCA481880152PTPN11c.1101T>C (p.Cys367=)
c.987T>C (p.Cys329=)
n.310T>C
c.93T>C (p.Cys31=)
c.1098T>C (p.Cys366=)
 gnomAD v4
12g.112482082T>GCA386775499PTPN11c.1101T>G (p.Cys367Trp)
c.987T>G (p.Cys329Trp)
n.310T>G
c.93T>G (p.Cys31Trp)
c.1098T>G (p.Cys366Trp)
12g.112482083G>ACA6798725PTPN11c.1102G>A (p.Val368Ile)
c.988G>A (p.Val330Ile)
n.311G>A
c.94G>A (p.Val32Ile)
c.1099G>A (p.Val367Ile)
 dbSNP ExAC gnomAD v2
12g.112482083G>CCA386775503PTPN11c.1102G>C (p.Val368Leu)
c.988G>C (p.Val330Leu)
n.311G>C
c.94G>C (p.Val32Leu)
c.1099G>C (p.Val367Leu)
12g.112482083G=CA2063779335PTPN11c.1102G= (p.Val368=)
c.988G= (p.Val330=)
n.311G=
c.94G= (p.Val32=)
c.1099G= (p.Val367=)
12g.112482083G>TCA386775505PTPN11c.1102G>T (p.Val368Phe)
c.988G>T (p.Val330Phe)
n.311G>T
c.94G>T (p.Val32Phe)
c.1099G>T (p.Val367Phe)
12g.112482084T>ACA386775506PTPN11c.1103T>A (p.Val368Asp)
c.989T>A (p.Val330Asp)
n.312T>A
c.95T>A (p.Val32Asp)
c.1100T>A (p.Val367Asp)
12g.112482084T>CCA386775508PTPN11c.1103T>C (p.Val368Ala)
c.989T>C (p.Val330Ala)
n.312T>C
c.95T>C (p.Val32Ala)
c.1100T>C (p.Val367Ala)
 gnomAD v4
12g.112482084T>GCA386775511PTPN11c.1103T>G (p.Val368Gly)
c.989T>G (p.Val330Gly)
n.312T>G
c.95T>G (p.Val32Gly)
c.1100T>G (p.Val367Gly)
12g.112482085C>ACA481880153PTPN11c.1104C>A (p.Val368=)
c.990C>A (p.Val330=)
n.313C>A
c.96C>A (p.Val32=)
c.1101C>A (p.Val367=)
12g.112482085C=CA2063779338PTPN11c.1104C= (p.Val368=)
c.990C= (p.Val330=)
n.313C=
c.96C= (p.Val32=)
c.1101C= (p.Val367=)
12g.112482085C>GCA481880155PTPN11c.1104C>G (p.Val368=)
c.990C>G (p.Val330=)
n.313C>G
c.96C>G (p.Val32=)
c.1101C>G (p.Val367=)
12g.112482085C>TCA481880154PTPN11c.1104C>T (p.Val368=)
c.990C>T (p.Val330=)
n.313C>T
c.96C>T (p.Val32=)
c.1101C>T (p.Val367=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.112482086A>CCA386775514PTPN11c.1105A>C (p.Lys369Gln)
c.991A>C (p.Lys331Gln)
n.314A>C
c.97A>C (p.Lys33Gln)
c.1102A>C (p.Lys368Gln)
12g.112482086A>GCA386775515PTPN11c.1105A>G (p.Lys369Glu)
c.991A>G (p.Lys331Glu)
n.314A>G
c.97A>G (p.Lys33Glu)
c.1102A>G (p.Lys368Glu)
12g.112482086A>TCA386775518PTPN11c.1105A>T (p.Lys369Ter)
c.991A>T (p.Lys331Ter)
n.314A>T
c.97A>T (p.Lys33Ter)
c.1102A>T (p.Lys368Ter)
12g.112482088delCA2621025591PTPN11c.1107del (p.Lys369AsnfsTer9)
c.993del (p.Lys331AsnfsTer9)
n.316del
c.99del (p.Lys33AsnfsTer9)
c.1104del (p.Lys368AsnfsTer9)
 gnomAD v4
12g.112482087_112482088delCA2621025592PTPN11c.1106_1107del (p.Lys369IlefsTer4)
c.992_993del (p.Lys331IlefsTer4)
n.315_316del
c.98_99del (p.Lys33IlefsTer4)
c.1103_1104del (p.Lys368IlefsTer4)
 gnomAD v4
12g.112482087A>CCA386775523PTPN11c.1106A>C (p.Lys369Thr)
c.992A>C (p.Lys331Thr)
n.315A>C
c.98A>C (p.Lys33Thr)
c.1103A>C (p.Lys368Thr)
12g.112482087A>GCA386775525PTPN11c.1106A>G (p.Lys369Arg)
c.992A>G (p.Lys331Arg)
n.315A>G
c.98A>G (p.Lys33Arg)
c.1103A>G (p.Lys368Arg)
12g.112482087A>TCA386775521PTPN11c.1106A>T (p.Lys369Ile)
c.992A>T (p.Lys331Ile)
n.315A>T
c.98A>T (p.Lys33Ile)
c.1103A>T (p.Lys368Ile)
12g.112482088A>CCA386775527PTPN11c.1107A>C (p.Lys369Asn)
c.993A>C (p.Lys331Asn)
n.316A>C
c.99A>C (p.Lys33Asn)
c.1104A>C (p.Lys368Asn)
12g.112482088A>GCA481880156PTPN11c.1107A>G (p.Lys369=)
c.993A>G (p.Lys331=)
n.316A>G
c.99A>G (p.Lys33=)
c.1104A>G (p.Lys368=)
12g.112482088A>TCA386775529PTPN11c.1107A>T (p.Lys369Asn)
c.993A>T (p.Lys331Asn)
n.316A>T
c.99A>T (p.Lys33Asn)
c.1104A>T (p.Lys368Asn)
12g.112482089T>ACA386775532PTPN11c.1108T>A (p.Tyr370Asn)
c.994T>A (p.Tyr332Asn)
n.317T>A
c.100T>A (p.Tyr34Asn)
c.1105T>A (p.Tyr369Asn)
12g.112482089T>CCA386775534PTPN11c.1108T>C (p.Tyr370His)
c.994T>C (p.Tyr332His)
n.317T>C
c.100T>C (p.Tyr34His)
c.1105T>C (p.Tyr369His)
12g.112482089T>GCA386775536PTPN11c.1108T>G (p.Tyr370Asp)
c.994T>G (p.Tyr332Asp)
n.317T>G
c.100T>G (p.Tyr34Asp)
c.1105T>G (p.Tyr369Asp)
12g.112482090A>CCA386775538PTPN11c.1109A>C (p.Tyr370Ser)
c.995A>C (p.Tyr332Ser)
n.318A>C
c.101A>C (p.Tyr34Ser)
c.1106A>C (p.Tyr369Ser)
12g.112482090A>GCA386775540PTPN11c.1109A>G (p.Tyr370Cys)
c.995A>G (p.Tyr332Cys)
n.318A>G
c.101A>G (p.Tyr34Cys)
c.1106A>G (p.Tyr369Cys)
12g.112482090A>TCA386775542PTPN11c.1109A>T (p.Tyr370Phe)
c.995A>T (p.Tyr332Phe)
n.318A>T
c.101A>T (p.Tyr34Phe)
c.1106A>T (p.Tyr369Phe)
12g.112482091C>ACA386775545PTPN11c.1110C>A (p.Tyr370Ter)
c.996C>A (p.Tyr332Ter)
n.319C>A
c.102C>A (p.Tyr34Ter)
c.1107C>A (p.Tyr369Ter)
12g.112482091C>GCA386775547PTPN11c.1110C>G (p.Tyr370Ter)
c.996C>G (p.Tyr332Ter)
n.319C>G
c.102C>G (p.Tyr34Ter)
c.1107C>G (p.Tyr369Ter)
12g.112482091C>TCA481880157PTPN11c.1110C>T (p.Tyr370=)
c.996C>T (p.Tyr332=)
n.319C>T
c.102C>T (p.Tyr34=)
c.1107C>T (p.Tyr369=)
 gnomAD v4
12g.112482092T>ACA386775550PTPN11c.1111T>A (p.Trp371Arg)
c.997T>A (p.Trp333Arg)
n.320T>A
c.103T>A (p.Trp35Arg)
c.1108T>A (p.Trp370Arg)
12g.112482092T>CCA386775551PTPN11c.1111T>C (p.Trp371Arg)
c.997T>C (p.Trp333Arg)
n.320T>C
c.103T>C (p.Trp35Arg)
c.1108T>C (p.Trp370Arg)
12g.112482092T>GCA386775554PTPN11c.1111T>G (p.Trp371Gly)
c.997T>G (p.Trp333Gly)
n.320T>G
c.103T>G (p.Trp35Gly)
c.1108T>G (p.Trp370Gly)
12g.112482093G>ACA386775560PTPN11c.1112G>A (p.Trp371Ter)
c.998G>A (p.Trp333Ter)
n.321G>A
c.104G>A (p.Trp35Ter)
c.1109G>A (p.Trp370Ter)
 ClinVar dbSNP gnomAD v4
12g.112482093G>CCA386775558PTPN11c.1112G>C (p.Trp371Ser)
c.998G>C (p.Trp333Ser)
n.321G>C
c.104G>C (p.Trp35Ser)
c.1109G>C (p.Trp370Ser)
12g.112482093G=CA2063779341PTPN11c.1112G= (p.Trp371=)
c.998G= (p.Trp333=)
n.321G=
c.104G= (p.Trp35=)
c.1109G= (p.Trp370=)
12g.112482093G>TCA386775556PTPN11c.1112G>T (p.Trp371Leu)
c.998G>T (p.Trp333Leu)
n.321G>T
c.104G>T (p.Trp35Leu)
c.1109G>T (p.Trp370Leu)
12g.112482094G>ACA386775563PTPN11c.1113G>A (p.Trp371Ter)
c.999G>A (p.Trp333Ter)
n.322G>A
c.105G>A (p.Trp35Ter)
c.1110G>A (p.Trp370Ter)
12g.112482094G>CCA386775565PTPN11c.1113G>C (p.Trp371Cys)
c.999G>C (p.Trp333Cys)
n.322G>C
c.105G>C (p.Trp35Cys)
c.1110G>C (p.Trp370Cys)
12g.112482094G>TCA386775567PTPN11c.1113G>T (p.Trp371Cys)
c.999G>T (p.Trp333Cys)
n.322G>T
c.105G>T (p.Trp35Cys)
c.1110G>T (p.Trp370Cys)
12g.112482095C>ACA386775569PTPN11c.1114C>A (p.Pro372Thr)
c.1000C>A (p.Pro334Thr)
n.323C>A
c.106C>A (p.Pro36Thr)
c.1111C>A (p.Pro371Thr)
 gnomAD v4
12g.112482095C>GCA386775571PTPN11c.1114C>G (p.Pro372Ala)
c.1000C>G (p.Pro334Ala)
n.323C>G
c.106C>G (p.Pro36Ala)
c.1111C>G (p.Pro371Ala)
 dbSNP
12g.112482095C>TCA386775574PTPN11c.1114C>T (p.Pro372Ser)
c.1000C>T (p.Pro334Ser)
n.323C>T
c.106C>T (p.Pro36Ser)
c.1111C>T (p.Pro371Ser)
 dbSNP gnomAD v4
12g.112482096C>ACA386775576PTPN11c.1115C>A (p.Pro372His)
c.1001C>A (p.Pro334His)
n.324C>A
c.107C>A (p.Pro36His)
c.1112C>A (p.Pro371His)
 gnomAD v4
12g.112482096C>GCA386775579PTPN11c.1115C>G (p.Pro372Arg)
c.1001C>G (p.Pro334Arg)
n.324C>G
c.107C>G (p.Pro36Arg)
c.1112C>G (p.Pro371Arg)
12g.112482096C>TCA386775580PTPN11c.1115C>T (p.Pro372Leu)
c.1001C>T (p.Pro334Leu)
n.324C>T
c.107C>T (p.Pro36Leu)
c.1112C>T (p.Pro371Leu)
12g.112482097T>ACA481880158PTPN11c.1116T>A (p.Pro372=)
c.1002T>A (p.Pro334=)
n.325T>A
c.108T>A (p.Pro36=)
c.1113T>A (p.Pro371=)
12g.112482097T>CCA481880160PTPN11c.1116T>C (p.Pro372=)
c.1002T>C (p.Pro334=)
n.325T>C
c.108T>C (p.Pro36=)
c.1113T>C (p.Pro371=)
12g.112482097T>GCA481880159PTPN11c.1116T>G (p.Pro372=)
c.1002T>G (p.Pro334=)
n.325T>G
c.108T>G (p.Pro36=)
c.1113T>G (p.Pro371=)
12g.112482098G>ACA386775583PTPN11c.1117G>A (p.Asp373Asn)
c.1003G>A (p.Asp335Asn)
n.326G>A
c.109G>A (p.Asp37Asn)
c.1114G>A (p.Asp372Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.112482098G>CCA386775585PTPN11c.1117G>C (p.Asp373His)
c.1003G>C (p.Asp335His)
n.326G>C
c.109G>C (p.Asp37His)
c.1114G>C (p.Asp372His)
12g.112482098G=CA2063779349PTPN11c.1117G= (p.Asp373=)
c.1003G= (p.Asp335=)
n.326G=
c.109G= (p.Asp37=)
c.1114G= (p.Asp372=)
12g.112482098G>TCA386775587PTPN11c.1117G>T (p.Asp373Tyr)
c.1003G>T (p.Asp335Tyr)
n.326G>T
c.109G>T (p.Asp37Tyr)
c.1114G>T (p.Asp372Tyr)
12g.112482099A>CCA386775594PTPN11c.1118A>C (p.Asp373Ala)
c.1004A>C (p.Asp335Ala)
n.327A>C
c.110A>C (p.Asp37Ala)
c.1115A>C (p.Asp372Ala)
12g.112482099A>GCA386775592PTPN11c.1118A>G (p.Asp373Gly)
c.1004A>G (p.Asp335Gly)
n.327A>G
c.110A>G (p.Asp37Gly)
c.1115A>G (p.Asp372Gly)
12g.112482099A>TCA386775590PTPN11c.1118A>T (p.Asp373Val)
c.1004A>T (p.Asp335Val)
n.327A>T
c.110A>T (p.Asp37Val)
c.1115A>T (p.Asp372Val)
12g.112482100T>ACA386775597PTPN11c.1119T>A (p.Asp373Glu)
c.1005T>A (p.Asp335Glu)
n.328T>A
c.111T>A (p.Asp37Glu)
c.1116T>A (p.Asp372Glu)
12g.112482100T>CCA481880162PTPN11c.1119T>C (p.Asp373=)
c.1005T>C (p.Asp335=)
n.328T>C
c.111T>C (p.Asp37=)
c.1116T>C (p.Asp372=)
 gnomAD v4
12g.112482100T>GCA386775599PTPN11c.1119T>G (p.Asp373Glu)
c.1005T>G (p.Asp335Glu)
n.328T>G
c.111T>G (p.Asp37Glu)
c.1116T>G (p.Asp372Glu)
 gnomAD v4
12g.112482101G>ACA386775601PTPN11c.1120G>A (p.Glu374Lys)
c.1006G>A (p.Glu336Lys)
n.329G>A
c.112G>A (p.Glu38Lys)
c.1117G>A (p.Glu373Lys)
12g.112482101G>CCA282117PTPN11c.1120G>C (p.Glu374Gln)
c.1006G>C (p.Glu336Gln)
n.329G>C
c.112G>C (p.Glu38Gln)
c.1117G>C (p.Glu373Gln)
 dbSNP
12g.112482101G=CA2063779353PTPN11c.1120G= (p.Glu374=)
c.1006G= (p.Glu336=)
n.329G=
c.112G= (p.Glu38=)
c.1117G= (p.Glu373=)
12g.112482101G>TCA386775605PTPN11c.1120G>T (p.Glu374Ter)
c.1006G>T (p.Glu336Ter)
n.329G>T
c.112G>T (p.Glu38Ter)
c.1117G>T (p.Glu373Ter)
12g.112482102A=CA2063779355PTPN11c.1121A= (p.Glu374=)
c.1007A= (p.Glu336=)
n.330A=
c.113A= (p.Glu38=)
c.1118A= (p.Glu373=)
12g.112482102A>CCA386775608PTPN11c.1121A>C (p.Glu374Ala)
c.1007A>C (p.Glu336Ala)
n.330A>C
c.113A>C (p.Glu38Ala)
c.1118A>C (p.Glu373Ala)
12g.112482102A>GCA6798726PTPN11c.1121A>G (p.Glu374Gly)
c.1007A>G (p.Glu336Gly)
n.330A>G
c.113A>G (p.Glu38Gly)
c.1118A>G (p.Glu373Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.112482102A>TCA386775611PTPN11c.1121A>T (p.Glu374Val)
c.1007A>T (p.Glu336Val)
n.330A>T
c.113A>T (p.Glu38Val)
c.1118A>T (p.Glu373Val)
12g.112482103G>ACA481880164PTPN11c.1122G>A (p.Glu374=)
c.1008G>A (p.Glu336=)
n.331G>A
c.114G>A (p.Glu38=)
c.1119G>A (p.Glu373=)
 dbSNP gnomAD v4
12g.112482103G>CCA386775613PTPN11c.1122G>C (p.Glu374Asp)
c.1008G>C (p.Glu336Asp)
n.331G>C
c.114G>C (p.Glu38Asp)
c.1119G>C (p.Glu373Asp)
12g.112482103G>TCA386775615PTPN11c.1122G>T (p.Glu374Asp)
c.1008G>T (p.Glu336Asp)
n.331G>T
c.114G>T (p.Glu38Asp)
c.1119G>T (p.Glu373Asp)
12g.112482104T>ACA386775617PTPN11c.1123T>A (p.Tyr375Asn)
c.1009T>A (p.Tyr337Asn)
n.332T>A
c.115T>A (p.Tyr39Asn)
c.1120T>A (p.Tyr374Asn)
12g.112482104T>CCA386775618PTPN11c.1123T>C (p.Tyr375His)
c.1009T>C (p.Tyr337His)
n.332T>C
c.115T>C (p.Tyr39His)
c.1120T>C (p.Tyr374His)
12g.112482104T>GCA386775619PTPN11c.1123T>G (p.Tyr375Asp)
c.1009T>G (p.Tyr337Asp)
n.332T>G
c.115T>G (p.Tyr39Asp)
c.1120T>G (p.Tyr374Asp)
12g.112482105A=CA2063779363PTPN11c.1124A= (p.Tyr375=)
c.1010A= (p.Tyr337=)
n.333A=
c.116A= (p.Tyr39=)
c.1121A= (p.Tyr374=)
12g.112482105A>CCA386775623PTPN11c.1124A>C (p.Tyr375Ser)
c.1010A>C (p.Tyr337Ser)
n.333A>C
c.116A>C (p.Tyr39Ser)
c.1121A>C (p.Tyr374Ser)
12g.112482105A>GCA134632PTPN11c.1124A>G (p.Tyr375Cys)
c.1010A>G (p.Tyr337Cys)
n.333A>G
c.116A>G (p.Tyr39Cys)
c.1121A>G (p.Tyr374Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112482105A>TCA386775621PTPN11c.1124A>T (p.Tyr375Phe)
c.1010A>T (p.Tyr337Phe)
n.333A>T
c.116A>T (p.Tyr39Phe)
c.1121A>T (p.Tyr374Phe)
12g.112482106T>ACA386775625PTPN11c.1125T>A (p.Tyr375Ter)
c.1011T>A (p.Tyr337Ter)
n.334T>A
c.117T>A (p.Tyr39Ter)
c.1122T>A (p.Tyr374Ter)
12g.112482106T>CCA481880165PTPN11c.1125T>C (p.Tyr375=)
c.1011T>C (p.Tyr337=)
n.334T>C
c.117T>C (p.Tyr39=)
c.1122T>C (p.Tyr374=)
12g.112482106T>GCA386775627PTPN11c.1125T>G (p.Tyr375Ter)
c.1011T>G (p.Tyr337Ter)
n.334T>G
c.117T>G (p.Tyr39Ter)
c.1122T>G (p.Tyr374Ter)
12g.112482107G>ACA386775629PTPN11c.1126G>A (p.Ala376Thr)
c.1012G>A (p.Ala338Thr)
n.335G>A
c.118G>A (p.Ala40Thr)
c.1123G>A (p.Ala375Thr)
 ClinVar gnomAD v4
12g.112482107G>CCA386775632PTPN11c.1126G>C (p.Ala376Pro)
c.1012G>C (p.Ala338Pro)
n.335G>C
c.118G>C (p.Ala40Pro)
c.1123G>C (p.Ala375Pro)
12g.112482107G>TCA386775634PTPN11c.1126G>T (p.Ala376Ser)
c.1012G>T (p.Ala338Ser)
n.335G>T
c.118G>T (p.Ala40Ser)
c.1123G>T (p.Ala375Ser)
12g.112482108C>ACA386775637PTPN11c.1127C>A (p.Ala376Asp)
c.1013C>A (p.Ala338Asp)
n.336C>A
c.119C>A (p.Ala40Asp)
c.1124C>A (p.Ala375Asp)
12g.112482108C=CA2063779366PTPN11c.1127C= (p.Ala376=)
c.1013C= (p.Ala338=)
n.336C=
c.119C= (p.Ala40=)
c.1124C= (p.Ala375=)
12g.112482108C>GCA386775638PTPN11c.1127C>G (p.Ala376Gly)
c.1013C>G (p.Ala338Gly)
n.336C>G
c.119C>G (p.Ala40Gly)
c.1124C>G (p.Ala375Gly)
 dbSNP
12g.112482108C>TCA386775640PTPN11c.1127C>T (p.Ala376Val)
c.1013C>T (p.Ala338Val)
n.336C>T
c.119C>T (p.Ala40Val)
c.1124C>T (p.Ala375Val)
12g.112482109T>ACA481880166PTPN11c.1128T>A (p.Ala376=)
c.1014T>A (p.Ala338=)
n.337T>A
c.120T>A (p.Ala40=)
c.1125T>A (p.Ala375=)
12g.112482109T>CCA481880168PTPN11c.1128T>C (p.Ala376=)
c.1014T>C (p.Ala338=)
n.337T>C
c.120T>C (p.Ala40=)
c.1125T>C (p.Ala375=)
 gnomAD v4
12g.112482109T>GCA481880167PTPN11c.1128T>G (p.Ala376=)
c.1014T>G (p.Ala338=)
n.337T>G
c.120T>G (p.Ala40=)
c.1125T>G (p.Ala375=)
12g.112482110C>ACA386775642PTPN11c.1129C>A (p.Leu377Ile)
c.1015C>A (p.Leu339Ile)
n.338C>A
c.121C>A (p.Leu41Ile)
c.1126C>A (p.Leu376Ile)
12g.112482110C=CA2063779369PTPN11c.1129C= (p.Leu377=)
c.1015C= (p.Leu339=)
n.338C=
c.121C= (p.Leu41=)
c.1126C= (p.Leu376=)
12g.112482110C>GCA386775644PTPN11c.1129C>G (p.Leu377Val)
c.1015C>G (p.Leu339Val)
n.338C>G
c.121C>G (p.Leu41Val)
c.1126C>G (p.Leu376Val)
 ClinVar dbSNP gnomAD v4
12g.112482110C>TCA481880169PTPN11c.1129C>T (p.Leu377=)
c.1015C>T (p.Leu339=)
n.338C>T
c.121C>T (p.Leu41=)
c.1126C>T (p.Leu376=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.112482111T>ACA386775646PTPN11c.1130T>A (p.Leu377Gln)
c.1016T>A (p.Leu339Gln)
n.339T>A
c.122T>A (p.Leu41Gln)
c.1127T>A (p.Leu376Gln)
12g.112482111T>CCA386775647PTPN11c.1130T>C (p.Leu377Pro)
c.1016T>C (p.Leu339Pro)
n.339T>C
c.122T>C (p.Leu41Pro)
c.1127T>C (p.Leu376Pro)
12g.112482111T>GCA386775649PTPN11c.1130T>G (p.Leu377Arg)
c.1016T>G (p.Leu339Arg)
n.339T>G
c.122T>G (p.Leu41Arg)
c.1127T>G (p.Leu376Arg)
12g.112482112A=CA2063779371PTPN11c.1131A= (p.Leu377=)
c.1017A= (p.Leu339=)
n.340A=
c.123A= (p.Leu41=)
c.1128A= (p.Leu376=)
12g.112482112A>CCA6798727PTPN11c.1131A>C (p.Leu377=)
c.1017A>C (p.Leu339=)
n.340A>C
c.123A>C (p.Leu41=)
c.1128A>C (p.Leu376=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112482112A>GCA481880170PTPN11c.1131A>G (p.Leu377=)
c.1017A>G (p.Leu339=)
n.340A>G
c.123A>G (p.Leu41=)
c.1128A>G (p.Leu376=)
12g.112482112A>TCA481880171PTPN11c.1131A>T (p.Leu377=)
c.1017A>T (p.Leu339=)
n.340A>T
c.123A>T (p.Leu41=)
c.1128A>T (p.Leu376=)
12g.112482115delCA2575298956PTPN11c.1134del (p.Glu379AsnfsTer20)
c.1020del (p.Glu341AsnfsTer20)
n.343del
c.126del (p.Glu43AsnfsTer20)
c.1131del (p.Glu378AsnfsTer20)
12g.112482113A>CCA386775655PTPN11c.1132A>C (p.Lys378Gln)
c.1018A>C (p.Lys340Gln)
n.341A>C
c.124A>C (p.Lys42Gln)
c.1129A>C (p.Lys377Gln)
12g.112482113A>GCA386775657PTPN11c.1132A>G (p.Lys378Glu)
c.1018A>G (p.Lys340Glu)
n.341A>G
c.124A>G (p.Lys42Glu)
c.1129A>G (p.Lys377Glu)
12g.112482113A>TCA386775653PTPN11c.1132A>T (p.Lys378Ter)
c.1018A>T (p.Lys340Ter)
n.341A>T
c.124A>T (p.Lys42Ter)
c.1129A>T (p.Lys377Ter)
12g.112482114A>CCA386775660PTPN11c.1133A>C (p.Lys378Thr)
c.1019A>C (p.Lys340Thr)
n.342A>C
c.125A>C (p.Lys42Thr)
c.1130A>C (p.Lys377Thr)
12g.112482114A>GCA386775662PTPN11c.1133A>G (p.Lys378Arg)
c.1019A>G (p.Lys340Arg)
n.342A>G
c.125A>G (p.Lys42Arg)
c.1130A>G (p.Lys377Arg)
12g.112482114A>TCA386775664PTPN11c.1133A>T (p.Lys378Ile)
c.1019A>T (p.Lys340Ile)
n.342A>T
c.125A>T (p.Lys42Ile)
c.1130A>T (p.Lys377Ile)
12g.112482115A>CCA386775667PTPN11c.1134A>C (p.Lys378Asn)
c.1020A>C (p.Lys340Asn)
n.343A>C
c.126A>C (p.Lys42Asn)
c.1131A>C (p.Lys377Asn)
12g.112482115A>GCA481880172PTPN11c.1134A>G (p.Lys378=)
c.1020A>G (p.Lys340=)
n.343A>G
c.126A>G (p.Lys42=)
c.1131A>G (p.Lys377=)
12g.112482115A>TCA386775668PTPN11c.1134A>T (p.Lys378Asn)
c.1020A>T (p.Lys340Asn)
n.343A>T
c.126A>T (p.Lys42Asn)
c.1131A>T (p.Lys377Asn)
12g.112482116G>ACA386775669PTPN11c.1135G>A (p.Glu379Lys)
c.1021G>A (p.Glu341Lys)
n.344G>A
c.127G>A (p.Glu43Lys)
c.1132G>A (p.Glu378Lys)
12g.112482116G>CCA386775671PTPN11c.1135G>C (p.Glu379Gln)
c.1021G>C (p.Glu341Gln)
n.344G>C
c.127G>C (p.Glu43Gln)
c.1132G>C (p.Glu378Gln)
12g.112482116G>TCA386775673PTPN11c.1135G>T (p.Glu379Ter)
c.1021G>T (p.Glu341Ter)
n.344G>T
c.127G>T (p.Glu43Ter)
c.1132G>T (p.Glu378Ter)
12g.112482117A>CCA386775675PTPN11c.1136A>C (p.Glu379Ala)
c.1022A>C (p.Glu341Ala)
n.345A>C
c.128A>C (p.Glu43Ala)
c.1133A>C (p.Glu378Ala)
12g.112482117A>GCA386775677PTPN11c.1136A>G (p.Glu379Gly)
c.1022A>G (p.Glu341Gly)
n.345A>G
c.128A>G (p.Glu43Gly)
c.1133A>G (p.Glu378Gly)
12g.112482117A>TCA386775679PTPN11c.1136A>T (p.Glu379Val)
c.1022A>T (p.Glu341Val)
n.345A>T
c.128A>T (p.Glu43Val)
c.1133A>T (p.Glu378Val)
12g.112482118A>CCA386775681PTPN11c.1137A>C (p.Glu379Asp)
c.1023A>C (p.Glu341Asp)
n.346A>C
c.129A>C (p.Glu43Asp)
c.1134A>C (p.Glu378Asp)
12g.112482118A>GCA481880173PTPN11c.1137A>G (p.Glu379=)
c.1023A>G (p.Glu341=)
n.346A>G
c.129A>G (p.Glu43=)
c.1134A>G (p.Glu378=)
12g.112482118A>TCA386775683PTPN11c.1137A>T (p.Glu379Asp)
c.1023A>T (p.Glu341Asp)
n.346A>T
c.129A>T (p.Glu43Asp)
c.1134A>T (p.Glu378Asp)
12g.112482119T>ACA386775686PTPN11c.1138T>A (p.Tyr380Asn)
c.1024T>A (p.Tyr342Asn)
n.347T>A
c.130T>A (p.Tyr44Asn)
c.1135T>A (p.Tyr379Asn)
12g.112482119T>CCA386775690PTPN11c.1138T>C (p.Tyr380His)
c.1024T>C (p.Tyr342His)
n.347T>C
c.130T>C (p.Tyr44His)
c.1135T>C (p.Tyr379His)
12g.112482119T>GCA386775688PTPN11c.1138T>G (p.Tyr380Asp)
c.1024T>G (p.Tyr342Asp)
n.347T>G
c.130T>G (p.Tyr44Asp)
c.1135T>G (p.Tyr379Asp)
12g.112482119_112482120insTCATCACAGACATTGTATTTTTCATCTCTAGAAGTGTTACA2621025616PTPN11c.1138_1139insTCATCACAGACATTGTATTTTTCATCTCTAGAAGTGTTA (p.Tyr380delinsPheIleThrAspIleValPhePheIleSerArgSerValAsn)
c.1024_1025insTCATCACAGACATTGTATTTTTCATCTCTAGAAGTGTTA (p.Tyr342delinsPheIleThrAspIleValPhePheIleSerArgSerValAsn)
n.347_348insTCATCACAGACATTGTATTTTTCATCTCTAGAAGTGTTA
c.130_131insTCATCACAGACATTGTATTTTTCATCTCTAGAAGTGTTA (p.Tyr44delinsPheIleThrAspIleValPhePheIleSerArgSerValAsn)
c.1135_1136insTCATCACAGACATTGTATTTTTCATCTCTAGAAGTGTTA (p.Tyr379delinsPheIleThrAspIleValPhePheIleSerArgSerValAsn)
 gnomAD v4
12g.112482120A=CA2063779373PTPN11c.1139A= (p.Tyr380=)
c.1025A= (p.Tyr342=)
n.348A=
c.131A= (p.Tyr44=)
c.1136A= (p.Tyr379=)
12g.112482120A>CCA386775693PTPN11c.1139A>C (p.Tyr380Ser)
c.1025A>C (p.Tyr342Ser)
n.348A>C
c.131A>C (p.Tyr44Ser)
c.1136A>C (p.Tyr379Ser)
12g.112482120A>GCA386775694PTPN11c.1139A>G (p.Tyr380Cys)
c.1025A>G (p.Tyr342Cys)
n.348A>G
c.131A>G (p.Tyr44Cys)
c.1136A>G (p.Tyr379Cys)
 dbSNP
12g.112482120A>TCA386775697PTPN11c.1139A>T (p.Tyr380Phe)
c.1025A>T (p.Tyr342Phe)
n.348A>T
c.131A>T (p.Tyr44Phe)
c.1136A>T (p.Tyr379Phe)
12g.112482121T>ACA386775699PTPN11c.1140T>A (p.Tyr380Ter)
c.1026T>A (p.Tyr342Ter)
n.349T>A
c.132T>A (p.Tyr44Ter)
c.1137T>A (p.Tyr379Ter)
12g.112482121T>CCA481880174PTPN11c.1140T>C (p.Tyr380=)
c.1026T>C (p.Tyr342=)
n.349T>C
c.132T>C (p.Tyr44=)
c.1137T>C (p.Tyr379=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.112482121T>GCA386775702PTPN11c.1140T>G (p.Tyr380Ter)
c.1026T>G (p.Tyr342Ter)
n.349T>G
c.132T>G (p.Tyr44Ter)
c.1137T>G (p.Tyr379Ter)
12g.112482121T=CA2063779376PTPN11c.1140T= (p.Tyr380=)
c.1026T= (p.Tyr342=)
n.349T=
c.132T= (p.Tyr44=)
c.1137T= (p.Tyr379=)
12g.112482122G>ACA386775704PTPN11c.1141G>A (p.Gly381Ser)
c.1027G>A (p.Gly343Ser)
n.350G>A
c.133G>A (p.Gly45Ser)
c.1138G>A (p.Gly380Ser)
12g.112482122G>CCA386775707PTPN11c.1141G>C (p.Gly381Arg)
c.1027G>C (p.Gly343Arg)
n.350G>C
c.133G>C (p.Gly45Arg)
c.1138G>C (p.Gly380Arg)
12g.112482122G>TCA386775709PTPN11c.1141G>T (p.Gly381Cys)
c.1027G>T (p.Gly343Cys)
n.350G>T
c.133G>T (p.Gly45Cys)
c.1138G>T (p.Gly380Cys)
12g.112482123G>ACA386775711PTPN11c.1142G>A (p.Gly381Asp)
c.1028G>A (p.Gly343Asp)
n.351G>A
c.134G>A (p.Gly45Asp)
c.1139G>A (p.Gly380Asp)
 gnomAD v4
12g.112482123G>CCA386775713PTPN11c.1142G>C (p.Gly381Ala)
c.1028G>C (p.Gly343Ala)
n.351G>C
c.134G>C (p.Gly45Ala)
c.1139G>C (p.Gly380Ala)
12g.112482123G>TCA386775714PTPN11c.1142G>T (p.Gly381Val)
c.1028G>T (p.Gly343Val)
n.351G>T
c.134G>T (p.Gly45Val)
c.1139G>T (p.Gly380Val)
12g.112482124C>ACA481880175PTPN11c.1143C>A (p.Gly381=)
c.1029C>A (p.Gly343=)
n.352C>A
c.135C>A (p.Gly45=)
c.1140C>A (p.Gly380=)
12g.112482124C=CA2063779380PTPN11c.1143C= (p.Gly381=)
c.1029C= (p.Gly343=)
n.352C=
c.135C= (p.Gly45=)
c.1140C= (p.Gly380=)
12g.112482124C>GCA481880176PTPN11c.1143C>G (p.Gly381=)
c.1029C>G (p.Gly343=)
n.352C>G
c.135C>G (p.Gly45=)
c.1140C>G (p.Gly380=)
12g.112482124C>TCA6798728PTPN11c.1143C>T (p.Gly381=)
c.1029C>T (p.Gly343=)
n.352C>T
c.135C>T (p.Gly45=)
c.1140C>T (p.Gly380=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112482125G>ACA386775721PTPN11c.1144G>A (p.Val382Ile)
c.1030G>A (p.Val344Ile)
n.353G>A
c.136G>A (p.Val46Ile)
c.1141G>A (p.Val381Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.112482125G>CCA386775718PTPN11c.1144G>C (p.Val382Leu)
c.1030G>C (p.Val344Leu)
n.353G>C
c.136G>C (p.Val46Leu)
c.1141G>C (p.Val381Leu)
12g.112482125G=CA2063779387PTPN11c.1144G= (p.Val382=)
c.1030G= (p.Val344=)
n.353G=
c.136G= (p.Val46=)
c.1141G= (p.Val381=)
12g.112482125G>TCA386775723PTPN11c.1144G>T (p.Val382Phe)
c.1030G>T (p.Val344Phe)
n.353G>T
c.136G>T (p.Val46Phe)
c.1141G>T (p.Val381Phe)
12g.112482126T>ACA386775725PTPN11c.1145T>A (p.Val382Asp)
c.1031T>A (p.Val344Asp)
n.354T>A
c.137T>A (p.Val46Asp)
c.1142T>A (p.Val381Asp)
12g.112482126T>CCA386775729PTPN11c.1145T>C (p.Val382Ala)
c.1031T>C (p.Val344Ala)
n.354T>C
c.137T>C (p.Val46Ala)
c.1142T>C (p.Val381Ala)
 dbSNP
12g.112482126T>GCA386775726PTPN11c.1145T>G (p.Val382Gly)
c.1031T>G (p.Val344Gly)
n.354T>G
c.137T>G (p.Val46Gly)
c.1142T>G (p.Val381Gly)
12g.112482126T=CA2063779391PTPN11c.1145T= (p.Val382=)
c.1031T= (p.Val344=)
n.354T=
c.137T= (p.Val46=)
c.1142T= (p.Val381=)
12g.112482127C>ACA481880177PTPN11c.1146C>A (p.Val382=)
c.1032C>A (p.Val344=)
n.355C>A
c.138C>A (p.Val46=)
c.1143C>A (p.Val381=)
 dbSNP gnomAD v4
12g.112482127C=CA2063779394PTPN11c.1146C= (p.Val382=)
c.1032C= (p.Val344=)
n.355C=
c.138C= (p.Val46=)
c.1143C= (p.Val381=)
12g.112482127C>GCA481880178PTPN11c.1146C>G (p.Val382=)
c.1032C>G (p.Val344=)
n.355C>G
c.138C>G (p.Val46=)
c.1143C>G (p.Val381=)
 dbSNP gnomAD v4
12g.112482127C>TCA481880179PTPN11c.1146C>T (p.Val382=)
c.1032C>T (p.Val344=)
n.355C>T
c.138C>T (p.Val46=)
c.1143C>T (p.Val381=)
 dbSNP gnomAD v3 gnomAD v4
12g.112482128A=CA2063779403PTPN11c.1147A= (p.Met383=)
c.1033A= (p.Met345=)
n.356A=
c.139A= (p.Met47=)
c.1144A= (p.Met382=)
12g.112482128A>CCA386775732PTPN11c.1147A>C (p.Met383Leu)
c.1033A>C (p.Met345Leu)
n.356A>C
c.139A>C (p.Met47Leu)
c.1144A>C (p.Met382Leu)
12g.112482128A>GCA386775734PTPN11c.1147A>G (p.Met383Val)
c.1033A>G (p.Met345Val)
n.356A>G
c.139A>G (p.Met47Val)
c.1144A>G (p.Met382Val)
 dbSNP gnomAD v4
12g.112482128A>TCA386775735PTPN11c.1147A>T (p.Met383Leu)
c.1033A>T (p.Met345Leu)
n.356A>T
c.139A>T (p.Met47Leu)
c.1144A>T (p.Met382Leu)
12g.112482128dupCA1139662892PTPN11c.1147dup (p.Met383AsnfsTer4)
c.1033dup (p.Met345AsnfsTer4)
n.356dup
c.139dup (p.Met47AsnfsTer4)
c.1144dup (p.Met382AsnfsTer4)
 ClinVar dbSNP
12g.112482129T>ACA386775739PTPN11c.1148T>A (p.Met383Lys)
c.1034T>A (p.Met345Lys)
n.357T>A
c.140T>A (p.Met47Lys)
c.1145T>A (p.Met382Lys)
12g.112482129T>CCA386775740PTPN11c.1148T>C (p.Met383Thr)
c.1034T>C (p.Met345Thr)
n.357T>C
c.140T>C (p.Met47Thr)
c.1145T>C (p.Met382Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.112482129T>GCA386775742PTPN11c.1148T>G (p.Met383Arg)
c.1034T>G (p.Met345Arg)
n.357T>G
c.140T>G (p.Met47Arg)
c.1145T>G (p.Met382Arg)
12g.112482129T=CA2063779407PTPN11c.1148T= (p.Met383=)
c.1034T= (p.Met345=)
n.357T=
c.140T= (p.Met47=)
c.1145T= (p.Met382=)
12g.112482130G>ACA386775744PTPN11c.1149G>A (p.Met383Ile)
c.1035G>A (p.Met345Ile)
n.358G>A
c.141G>A (p.Met47Ile)
c.1146G>A (p.Met382Ile)
 gnomAD v4
12g.112482130G>CCA386775746PTPN11c.1149G>C (p.Met383Ile)
c.1035G>C (p.Met345Ile)
n.358G>C
c.141G>C (p.Met47Ile)
c.1146G>C (p.Met382Ile)
12g.112482130G>TCA386775749PTPN11c.1149G>T (p.Met383Ile)
c.1035G>T (p.Met345Ile)
n.358G>T
c.141G>T (p.Met47Ile)
c.1146G>T (p.Met382Ile)
12g.112482131C>ACA386775752PTPN11c.1150C>A (p.Arg384Ser)
c.1036C>A (p.Arg346Ser)
n.359C>A
c.142C>A (p.Arg48Ser)
c.1147C>A (p.Arg383Ser)
 dbSNP
12g.112482131C=CA2063779414PTPN11c.1150C= (p.Arg384=)
c.1036C= (p.Arg346=)
n.359C=
c.142C= (p.Arg48=)
c.1147C= (p.Arg383=)
12g.112482131C>GCA386775754PTPN11c.1150C>G (p.Arg384Gly)
c.1036C>G (p.Arg346Gly)
n.359C>G
c.142C>G (p.Arg48Gly)
c.1147C>G (p.Arg383Gly)
12g.112482131C>TCA6798729PTPN11c.1150C>T (p.Arg384Cys)
c.1036C>T (p.Arg346Cys)
n.359C>T
c.142C>T (p.Arg48Cys)
c.1147C>T (p.Arg383Cys)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
12g.112482132G>ACA386775760PTPN11c.1151G>A (p.Arg384His)
c.1037G>A (p.Arg346His)
n.360G>A
c.143G>A (p.Arg48His)
c.1148G>A (p.Arg383His)
 dbSNP gnomAD v4 COSMIC
12g.112482132G>CCA386775757PTPN11c.1151G>C (p.Arg384Pro)
c.1037G>C (p.Arg346Pro)
n.360G>C
c.143G>C (p.Arg48Pro)
c.1148G>C (p.Arg383Pro)
12g.112482132G>TCA386775759PTPN11c.1151G>T (p.Arg384Leu)
c.1037G>T (p.Arg346Leu)
n.360G>T
c.143G>T (p.Arg48Leu)
c.1148G>T (p.Arg383Leu)
12g.112482133T>ACA481880180PTPN11c.1152T>A (p.Arg384=)
c.1038T>A (p.Arg346=)
n.361T>A
c.144T>A (p.Arg48=)
c.1149T>A (p.Arg383=)
12g.112482133T>CCA481880181PTPN11c.1152T>C (p.Arg384=)
c.1038T>C (p.Arg346=)
n.361T>C
c.144T>C (p.Arg48=)
c.1149T>C (p.Arg383=)
12g.112482133T>GCA481880182PTPN11c.1152T>G (p.Arg384=)
c.1038T>G (p.Arg346=)
n.361T>G
c.144T>G (p.Arg48=)
c.1149T>G (p.Arg383=)
 gnomAD v4
12g.112482134G>ACA6798730PTPN11c.1153G>A (p.Val385Ile)
c.1039G>A (p.Val347Ile)
n.362G>A
c.145G>A (p.Val49Ile)
c.1150G>A (p.Val384Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.112482134G>CCA386775764PTPN11c.1153G>C (p.Val385Leu)
c.1039G>C (p.Val347Leu)
n.362G>C
c.145G>C (p.Val49Leu)
c.1150G>C (p.Val384Leu)
12g.112482134G=CA2063779417PTPN11c.1153G= (p.Val385=)
c.1039G= (p.Val347=)
n.362G=
c.145G= (p.Val49=)
c.1150G= (p.Val384=)
12g.112482134G>TCA386775766PTPN11c.1153G>T (p.Val385Phe)
c.1039G>T (p.Val347Phe)
n.362G>T
c.145G>T (p.Val49Phe)
c.1150G>T (p.Val384Phe)
12g.112482135T>ACA386775768PTPN11c.1154T>A (p.Val385Asp)
c.1040T>A (p.Val347Asp)
n.363T>A
c.146T>A (p.Val49Asp)
c.1151T>A (p.Val384Asp)
12g.112482135T>CCA386775770PTPN11c.1154T>C (p.Val385Ala)
c.1040T>C (p.Val347Ala)
n.363T>C
c.146T>C (p.Val49Ala)
c.1151T>C (p.Val384Ala)
12g.112482135T>GCA386775772PTPN11c.1154T>G (p.Val385Gly)
c.1040T>G (p.Val347Gly)
n.363T>G
c.146T>G (p.Val49Gly)
c.1151T>G (p.Val384Gly)
12g.112482136T>ACA481880183PTPN11c.1155T>A (p.Val385=)
c.1041T>A (p.Val347=)
n.364T>A
c.147T>A (p.Val49=)
c.1152T>A (p.Val384=)
12g.112482136T>CCA481880184PTPN11c.1155T>C (p.Val385=)
c.1041T>C (p.Val347=)
n.364T>C
c.147T>C (p.Val49=)
c.1152T>C (p.Val384=)
12g.112482136T>GCA481880185PTPN11c.1155T>G (p.Val385=)
c.1041T>G (p.Val347=)
n.364T>G
c.147T>G (p.Val49=)
c.1152T>G (p.Val384=)
12g.112482136_112482138delCA2573332938PTPN11c.1155_1157del (p.Arg386del)
c.1041_1043del (p.Arg348del)
n.364_366del
c.147_149del (p.Arg50del)
c.1152_1154del (p.Arg385del)
12g.112482137A>CCA481880186PTPN11c.1156A>C (p.Arg386=)
c.1042A>C (p.Arg348=)
n.365A>C
c.148A>C (p.Arg50=)
c.1153A>C (p.Arg385=)
12g.112482137A>GCA386775773PTPN11c.1156A>G (p.Arg386Gly)
c.1042A>G (p.Arg348Gly)
n.365A>G
c.148A>G (p.Arg50Gly)
c.1153A>G (p.Arg385Gly)
12g.112482137A>TCA386775776PTPN11c.1156A>T (p.Arg386Trp)
c.1042A>T (p.Arg348Trp)
n.365A>T
c.148A>T (p.Arg50Trp)
c.1153A>T (p.Arg385Trp)
12g.112482138G>ACA386775778PTPN11c.1157G>A (p.Arg386Lys)
c.1043G>A (p.Arg348Lys)
n.366G>A
c.149G>A (p.Arg50Lys)
c.1154G>A (p.Arg385Lys)
 dbSNP
12g.112482138G>CCA386775780PTPN11c.1157G>C (p.Arg386Thr)
c.1043G>C (p.Arg348Thr)
n.366G>C
c.149G>C (p.Arg50Thr)
c.1154G>C (p.Arg385Thr)
12g.112482138G>TCA386775782PTPN11c.1157G>T (p.Arg386Met)
c.1043G>T (p.Arg348Met)
n.366G>T
c.149G>T (p.Arg50Met)
c.1154G>T (p.Arg385Met)
12g.112482139G>ACA481880187PTPN11c.1158G>A (p.Arg386=)
c.1044G>A (p.Arg348=)
n.367G>A
c.150G>A (p.Arg50=)
c.1155G>A (p.Arg385=)
 gnomAD v4
12g.112482139G>CCA386775787PTPN11c.1158G>C (p.Arg386Ser)
c.1044G>C (p.Arg348Ser)
n.367G>C
c.150G>C (p.Arg50Ser)
c.1155G>C (p.Arg385Ser)
12g.112482139G>TCA386775785PTPN11c.1158G>T (p.Arg386Ser)
c.1044G>T (p.Arg348Ser)
n.367G>T
c.150G>T (p.Arg50Ser)
c.1155G>T (p.Arg385Ser)
12g.112482140A>CCA386775789PTPN11c.1159A>C (p.Asn387His)
c.1045A>C (p.Asn349His)
n.368A>C
c.151A>C (p.Asn51His)
c.1156A>C (p.Asn386His)
12g.112482140A>GCA386775791PTPN11c.1159A>G (p.Asn387Asp)
c.1045A>G (p.Asn349Asp)
n.368A>G
c.151A>G (p.Asn51Asp)
c.1156A>G (p.Asn386Asp)
12g.112482140A>TCA386775793PTPN11c.1159A>T (p.Asn387Tyr)
c.1045A>T (p.Asn349Tyr)
n.368A>T
c.151A>T (p.Asn51Tyr)
c.1156A>T (p.Asn386Tyr)
12g.112482141A>CCA386775795PTPN11c.1160A>C (p.Asn387Thr)
c.1046A>C (p.Asn349Thr)
n.369A>C
c.152A>C (p.Asn51Thr)
c.1157A>C (p.Asn386Thr)
12g.112482141A>GCA386775798PTPN11c.1160A>G (p.Asn387Ser)
c.1046A>G (p.Asn349Ser)
n.369A>G
c.152A>G (p.Asn51Ser)
c.1157A>G (p.Asn386Ser)
12g.112482141A>TCA386775800PTPN11c.1160A>T (p.Asn387Ile)
c.1046A>T (p.Asn349Ile)
n.369A>T
c.152A>T (p.Asn51Ile)
c.1157A>T (p.Asn386Ile)
12g.112482142C>ACA386775801PTPN11c.1161C>A (p.Asn387Lys)
c.1047C>A (p.Asn349Lys)
n.370C>A
c.153C>A (p.Asn51Lys)
c.1158C>A (p.Asn386Lys)
12g.112482142C=CA2063779424PTPN11c.1161C= (p.Asn387=)
c.1047C= (p.Asn349=)
n.370C=
c.153C= (p.Asn51=)
c.1158C= (p.Asn386=)
12g.112482142C>GCA386775802PTPN11c.1161C>G (p.Asn387Lys)
c.1047C>G (p.Asn349Lys)
n.370C>G
c.153C>G (p.Asn51Lys)
c.1158C>G (p.Asn386Lys)
12g.112482142C>TCA185306PTPN11c.1161C>T (p.Asn387=)
c.1047C>T (p.Asn349=)
n.370C>T
c.153C>T (p.Asn51=)
c.1158C>T (p.Asn386=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112482143G>ACA6798731PTPN11c.1162G>A (p.Val388Ile)
c.1048G>A (p.Val350Ile)
n.371G>A
c.154G>A (p.Val52Ile)
c.1159G>A (p.Val387Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112482143G>CCA386775806PTPN11c.1162G>C (p.Val388Leu)
c.1048G>C (p.Val350Leu)
n.371G>C
c.154G>C (p.Val52Leu)
c.1159G>C (p.Val387Leu)
12g.112482143G=CA2063779428PTPN11c.1162G= (p.Val388=)
c.1048G= (p.Val350=)
n.371G=
c.154G= (p.Val52=)
c.1159G= (p.Val387=)
12g.112482143G>TCA386775808PTPN11c.1162G>T (p.Val388Phe)
c.1048G>T (p.Val350Phe)
n.371G>T
c.154G>T (p.Val52Phe)
c.1159G>T (p.Val387Phe)
12g.112482144T>ACA386775812PTPN11c.1163T>A (p.Val388Asp)
c.1049T>A (p.Val350Asp)
n.372T>A
c.155T>A (p.Val52Asp)
c.1160T>A (p.Val387Asp)
 dbSNP
12g.112482144T>CCA386775814PTPN11c.1163T>C (p.Val388Ala)
c.1049T>C (p.Val350Ala)
n.372T>C
c.155T>C (p.Val52Ala)
c.1160T>C (p.Val387Ala)
12g.112482144T>GCA386775811PTPN11c.1163T>G (p.Val388Gly)
c.1049T>G (p.Val350Gly)
n.372T>G
c.155T>G (p.Val52Gly)
c.1160T>G (p.Val387Gly)
12g.112482145C>ACA481880188PTPN11c.1164C>A (p.Val388=)
c.1050C>A (p.Val350=)
n.373C>A
c.156C>A (p.Val52=)
c.1161C>A (p.Val387=)
12g.112482145C>GCA481880189PTPN11c.1164C>G (p.Val388=)
c.1050C>G (p.Val350=)
n.373C>G
c.156C>G (p.Val52=)
c.1161C>G (p.Val387=)
 dbSNP
12g.112482145C>TCA481880190PTPN11c.1164C>T (p.Val388=)
c.1050C>T (p.Val350=)
n.373C>T
c.156C>T (p.Val52=)
c.1161C>T (p.Val387=)
12g.112482146A>CCA386775816PTPN11c.1165A>C (p.Lys389Gln)
c.1051A>C (p.Lys351Gln)
n.374A>C
c.157A>C (p.Lys53Gln)
c.1162A>C (p.Lys388Gln)
 ClinVar
12g.112482146A>GCA386775819PTPN11c.1165A>G (p.Lys389Glu)
c.1051A>G (p.Lys351Glu)
n.374A>G
c.157A>G (p.Lys53Glu)
c.1162A>G (p.Lys388Glu)
12g.112482146A>TCA386775821PTPN11c.1165A>T (p.Lys389Ter)
c.1051A>T (p.Lys351Ter)
n.374A>T
c.157A>T (p.Lys53Ter)
c.1162A>T (p.Lys388Ter)
12g.112482147A=CA2063779434PTPN11c.1166A= (p.Lys389=)
c.1052A= (p.Lys351=)
n.375A=
c.158A= (p.Lys53=)
c.1163A= (p.Lys388=)
12g.112482147A>CCA386775824PTPN11c.1166A>C (p.Lys389Thr)
c.1052A>C (p.Lys351Thr)
n.375A>C
c.158A>C (p.Lys53Thr)
c.1163A>C (p.Lys388Thr)
12g.112482147A>GCA386775826PTPN11c.1166A>G (p.Lys389Arg)
c.1052A>G (p.Lys351Arg)
n.375A>G
c.158A>G (p.Lys53Arg)
c.1163A>G (p.Lys388Arg)
 ClinVar dbSNP gnomAD v4
12g.112482147A>TCA386775828PTPN11c.1166A>T (p.Lys389Ile)
c.1052A>T (p.Lys351Ile)
n.375A>T
c.158A>T (p.Lys53Ile)
c.1163A>T (p.Lys388Ile)
12g.112482148A>CCA386775830PTPN11c.1167A>C (p.Lys389Asn)
c.1053A>C (p.Lys351Asn)
n.376A>C
c.159A>C (p.Lys53Asn)
c.1164A>C (p.Lys388Asn)
12g.112482148A>GCA481880191PTPN11c.1167A>G (p.Lys389=)
c.1053A>G (p.Lys351=)
n.376A>G
c.159A>G (p.Lys53=)
c.1164A>G (p.Lys388=)
 gnomAD v4
12g.112482148A>TCA386775833PTPN11c.1167A>T (p.Lys389Asn)
c.1053A>T (p.Lys351Asn)
n.376A>T
c.159A>T (p.Lys53Asn)
c.1164A>T (p.Lys388Asn)
12g.112482149G>ACA386775835PTPN11c.1168G>A (p.Glu390Lys)
c.1054G>A (p.Glu352Lys)
n.377G>A
c.160G>A (p.Glu54Lys)
c.1165G>A (p.Glu389Lys)
 dbSNP
12g.112482149G>CCA386775837PTPN11c.1168G>C (p.Glu390Gln)
c.1054G>C (p.Glu352Gln)
n.377G>C
c.160G>C (p.Glu54Gln)
c.1165G>C (p.Glu389Gln)
12g.112482149G>TCA386775839PTPN11c.1168G>T (p.Glu390Ter)
c.1054G>T (p.Glu352Ter)
n.377G>T
c.160G>T (p.Glu54Ter)
c.1165G>T (p.Glu389Ter)
12g.112482150A>CCA386775842PTPN11c.1169A>C (p.Glu390Ala)
c.1055A>C (p.Glu352Ala)
n.378A>C
c.161A>C (p.Glu54Ala)
c.1166A>C (p.Glu389Ala)
12g.112482150A>GCA386775844PTPN11c.1169A>G (p.Glu390Gly)
c.1055A>G (p.Glu352Gly)
n.378A>G
c.161A>G (p.Glu54Gly)
c.1166A>G (p.Glu389Gly)
12g.112482150A>TCA386775846PTPN11c.1169A>T (p.Glu390Val)
c.1055A>T (p.Glu352Val)
n.378A>T
c.161A>T (p.Glu54Val)
c.1166A>T (p.Glu389Val)
12g.112482151A>CCA386775849PTPN11c.1170A>C (p.Glu390Asp)
c.1056A>C (p.Glu352Asp)
n.379A>C
c.162A>C (p.Glu54Asp)
c.1167A>C (p.Glu389Asp)
12g.112482151A>GCA481880192PTPN11c.1170A>G (p.Glu390=)
c.1056A>G (p.Glu352=)
n.379A>G
c.162A>G (p.Glu54=)
c.1167A>G (p.Glu389=)
12g.112482151A>TCA386775851PTPN11c.1170A>T (p.Glu390Asp)
c.1056A>T (p.Glu352Asp)
n.379A>T
c.162A>T (p.Glu54Asp)
c.1167A>T (p.Glu389Asp)
12g.112482152A=CA2063779436PTPN11c.1171A= (p.Ser391=)
c.1057A= (p.Ser353=)
n.380A=
c.163A= (p.Ser55=)
c.1168A= (p.Ser390=)
12g.112482152A>CCA386775853PTPN11c.1171A>C (p.Ser391Arg)
c.1057A>C (p.Ser353Arg)
n.380A>C
c.163A>C (p.Ser55Arg)
c.1168A>C (p.Ser390Arg)
 gnomAD v4
12g.112482152A>GCA386775857PTPN11c.1171A>G (p.Ser391Gly)
c.1057A>G (p.Ser353Gly)
n.380A>G
c.163A>G (p.Ser55Gly)
c.1168A>G (p.Ser390Gly)
 ClinVar dbSNP gnomAD v4
12g.112482152A>TCA386775855PTPN11c.1171A>T (p.Ser391Cys)
c.1057A>T (p.Ser353Cys)
n.380A>T
c.163A>T (p.Ser55Cys)
c.1168A>T (p.Ser390Cys)
 dbSNP
12g.112482153G>ACA386775860PTPN11c.1172G>A (p.Ser391Asn)
c.1058G>A (p.Ser353Asn)
n.381G>A
c.164G>A (p.Ser55Asn)
c.1169G>A (p.Ser390Asn)
 ClinVar dbSNP gnomAD v4
12g.112482153G>CCA386775863PTPN11c.1172G>C (p.Ser391Thr)
c.1058G>C (p.Ser353Thr)
n.381G>C
c.164G>C (p.Ser55Thr)
c.1169G>C (p.Ser390Thr)
12g.112482153G=CA2063779439PTPN11c.1172G= (p.Ser391=)
c.1058G= (p.Ser353=)
n.381G=
c.164G= (p.Ser55=)
c.1169G= (p.Ser390=)
12g.112482153G>TCA386775865PTPN11c.1172G>T (p.Ser391Ile)
c.1058G>T (p.Ser353Ile)
n.381G>T
c.164G>T (p.Ser55Ile)
c.1169G>T (p.Ser390Ile)
12g.112482153dupCA951952997PTPN11c.1172dup (p.Ser391ArgfsTer5)
c.1058dup (p.Ser353ArgfsTer5)
n.381dup
c.164dup (p.Ser55ArgfsTer5)
c.1169dup (p.Ser390ArgfsTer5)
 dbSNP gnomAD v3 gnomAD v4
12g.112482154C>ACA386775867PTPN11c.1173C>A (p.Ser391Arg)
c.1059C>A (p.Ser353Arg)
n.382C>A
c.165C>A (p.Ser55Arg)
c.1170C>A (p.Ser390Arg)
12g.112482154C=CA2063779445PTPN11c.1173C= (p.Ser391=)
c.1059C= (p.Ser353=)
n.382C=
c.165C= (p.Ser55=)
c.1170C= (p.Ser390=)
12g.112482154C>GCA386775869PTPN11c.1173C>G (p.Ser391Arg)
c.1059C>G (p.Ser353Arg)
n.382C>G
c.165C>G (p.Ser55Arg)
c.1170C>G (p.Ser390Arg)
12g.112482154C>TCA6798732PTPN11c.1173C>T (p.Ser391=)
c.1059C>T (p.Ser353=)
n.382C>T
c.165C>T (p.Ser55=)
c.1170C>T (p.Ser390=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112482155G>ACA357176PTPN11c.1174G>A (p.Ala392Thr)
c.1060G>A (p.Ala354Thr)
n.383G>A
c.166G>A (p.Ala56Thr)
c.1171G>A (p.Ala391Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.112482155G>CCA386775875PTPN11c.1174G>C (p.Ala392Pro)
c.1060G>C (p.Ala354Pro)
n.383G>C
c.166G>C (p.Ala56Pro)
c.1171G>C (p.Ala391Pro)
12g.112482155G=CA2063779450PTPN11c.1174G= (p.Ala392=)
c.1060G= (p.Ala354=)
n.383G=
c.166G= (p.Ala56=)
c.1171G= (p.Ala391=)
12g.112482155G>TCA386775876PTPN11c.1174G>T (p.Ala392Ser)
c.1060G>T (p.Ala354Ser)
n.383G>T
c.166G>T (p.Ala56Ser)
c.1171G>T (p.Ala391Ser)
12g.112482156C>ACA386775878PTPN11c.1175C>A (p.Ala392Asp)
c.1061C>A (p.Ala354Asp)
n.384C>A
c.167C>A (p.Ala56Asp)
c.1172C>A (p.Ala391Asp)
12g.112482156C>GCA386775880PTPN11c.1175C>G (p.Ala392Gly)
c.1061C>G (p.Ala354Gly)
n.384C>G
c.167C>G (p.Ala56Gly)
c.1172C>G (p.Ala391Gly)
12g.112482156C>TCA386775882PTPN11c.1175C>T (p.Ala392Val)
c.1061C>T (p.Ala354Val)
n.384C>T
c.167C>T (p.Ala56Val)
c.1172C>T (p.Ala391Val)
 gnomAD v4 COSMIC
12g.112482157C>ACA481880193PTPN11c.1176C>A (p.Ala392=)
c.1062C>A (p.Ala354=)
n.385C>A
c.168C>A (p.Ala56=)
c.1173C>A (p.Ala391=)
12g.112482157C=CA2063779454PTPN11c.1176C= (p.Ala392=)
c.1062C= (p.Ala354=)
n.385C=
c.168C= (p.Ala56=)
c.1173C= (p.Ala391=)
12g.112482157C>GCA481880194PTPN11c.1176C>G (p.Ala392=)
c.1062C>G (p.Ala354=)
n.385C>G
c.168C>G (p.Ala56=)
c.1173C>G (p.Ala391=)
12g.112482157C>TCA6798733PTPN11c.1176C>T (p.Ala392=)
c.1062C>T (p.Ala354=)
n.385C>T
c.168C>T (p.Ala56=)
c.1173C>T (p.Ala391=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112482158G>ACA386775887PTPN11c.1177G>A (p.Ala393Thr)
c.1063G>A (p.Ala355Thr)
n.386G>A
c.169G>A (p.Ala57Thr)
c.1174G>A (p.Ala392Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.112482158G>CCA386775889PTPN11c.1177G>C (p.Ala393Pro)
c.1063G>C (p.Ala355Pro)
n.386G>C
c.169G>C (p.Ala57Pro)
c.1174G>C (p.Ala392Pro)
 gnomAD v4
12g.112482158G=CA2063779459PTPN11c.1177G= (p.Ala393=)
c.1063G= (p.Ala355=)
n.386G=
c.169G= (p.Ala57=)
c.1174G= (p.Ala392=)
12g.112482158G>TCA386775891PTPN11c.1177G>T (p.Ala393Ser)
c.1063G>T (p.Ala355Ser)
n.386G>T
c.169G>T (p.Ala57Ser)
c.1174G>T (p.Ala392Ser)
12g.112482159C>ACA386775894PTPN11c.1178C>A (p.Ala393Asp)
c.1064C>A (p.Ala355Asp)
n.387C>A
c.170C>A (p.Ala57Asp)
c.1175C>A (p.Ala392Asp)
12g.112482159C>GCA386775896PTPN11c.1178C>G (p.Ala393Gly)
c.1064C>G (p.Ala355Gly)
n.387C>G
c.170C>G (p.Ala57Gly)
c.1175C>G (p.Ala392Gly)
12g.112482159C>TCA386775897PTPN11c.1178C>T (p.Ala393Val)
c.1064C>T (p.Ala355Val)
n.387C>T
c.170C>T (p.Ala57Val)
c.1175C>T (p.Ala392Val)
12g.112482160T>ACA481880197PTPN11c.1179T>A (p.Ala393=)
c.1065T>A (p.Ala355=)
n.388T>A
c.171T>A (p.Ala57=)
c.1176T>A (p.Ala392=)
 dbSNP
12g.112482160T>CCA481880196PTPN11c.1179T>C (p.Ala393=)
c.1065T>C (p.Ala355=)
n.388T>C
c.171T>C (p.Ala57=)
c.1176T>C (p.Ala392=)
12g.112482160T>GCA481880195PTPN11c.1179T>G (p.Ala393=)
c.1065T>G (p.Ala355=)
n.388T>G
c.171T>G (p.Ala57=)
c.1176T>G (p.Ala392=)
12g.112482161C>ACA386775899PTPN11c.1180C>A (p.His394Asn)
c.1066C>A (p.His356Asn)
n.389C>A
c.172C>A (p.His58Asn)
c.1177C>A (p.His393Asn)
 gnomAD v4
12g.112482161C>GCA386775901PTPN11c.1180C>G (p.His394Asp)
c.1066C>G (p.His356Asp)
n.389C>G
c.172C>G (p.His58Asp)
c.1177C>G (p.His393Asp)
12g.112482161C>TCA386775903PTPN11c.1180C>T (p.His394Tyr)
c.1066C>T (p.His356Tyr)
n.389C>T
c.172C>T (p.His58Tyr)
c.1177C>T (p.His393Tyr)
12g.112482162A=CA2063779464PTPN11c.1181A= (p.His394=)
c.1067A= (p.His356=)
n.390A=
c.173A= (p.His58=)
c.1178A= (p.His393=)
12g.112482162A>CCA386775905PTPN11c.1181A>C (p.His394Pro)
c.1067A>C (p.His356Pro)
n.390A>C
c.173A>C (p.His58Pro)
c.1178A>C (p.His393Pro)
12g.112482162A>GCA386775906PTPN11c.1181A>G (p.His394Arg)
c.1067A>G (p.His356Arg)
n.390A>G
c.173A>G (p.His58Arg)
c.1178A>G (p.His393Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.112482162A>TCA386775909PTPN11c.1181A>T (p.His394Leu)
c.1067A>T (p.His356Leu)
n.390A>T
c.173A>T (p.His58Leu)
c.1178A>T (p.His393Leu)
12g.112482163T>ACA386775911PTPN11c.1182T>A (p.His394Gln)
c.1068T>A (p.His356Gln)
n.391T>A
c.174T>A (p.His58Gln)
c.1179T>A (p.His393Gln)
12g.112482163T>CCA481880198PTPN11c.1182T>C (p.His394=)
c.1068T>C (p.His356=)
n.391T>C
c.174T>C (p.His58=)
c.1179T>C (p.His393=)
12g.112482163T>GCA386775913PTPN11c.1182T>G (p.His394Gln)
c.1068T>G (p.His356Gln)
n.391T>G
c.174T>G (p.His58Gln)
c.1179T>G (p.His393Gln)
12g.112482164G>ACA386775915PTPN11c.1183G>A (p.Asp395Asn)
c.1069G>A (p.Asp357Asn)
n.392G>A
c.175G>A (p.Asp59Asn)
c.1180G>A (p.Asp394Asn)
12g.112482164G>CCA386775920PTPN11c.1183G>C (p.Asp395His)
c.1069G>C (p.Asp357His)
n.392G>C
c.175G>C (p.Asp59His)
c.1180G>C (p.Asp394His)
12g.112482164G>TCA386775918PTPN11c.1183G>T (p.Asp395Tyr)
c.1069G>T (p.Asp357Tyr)
n.392G>T
c.175G>T (p.Asp59Tyr)
c.1180G>T (p.Asp394Tyr)
 ClinVar gnomAD v4
12g.112482165A>CCA386775923PTPN11c.1184A>C (p.Asp395Ala)
c.1070A>C (p.Asp357Ala)
n.393A>C
c.176A>C (p.Asp59Ala)
c.1181A>C (p.Asp394Ala)
12g.112482165A>GCA386775925PTPN11c.1184A>G (p.Asp395Gly)
c.1070A>G (p.Asp357Gly)
n.393A>G
c.176A>G (p.Asp59Gly)
c.1181A>G (p.Asp394Gly)
 gnomAD v4
12g.112482165A>TCA386775928PTPN11c.1184A>T (p.Asp395Val)
c.1070A>T (p.Asp357Val)
n.393A>T
c.176A>T (p.Asp59Val)
c.1181A>T (p.Asp394Val)
12g.112482166C>ACA386775973PTPN11c.1185C>A (p.Asp395Glu)
c.1071C>A (p.Asp357Glu)
n.394C>A
c.177C>A (p.Asp59Glu)
c.1182C>A (p.Asp394Glu)
12g.112482166C>GCA386775976PTPN11c.1185C>G (p.Asp395Glu)
c.1071C>G (p.Asp357Glu)
n.394C>G
c.177C>G (p.Asp59Glu)
c.1182C>G (p.Asp394Glu)
12g.112482166C>TCA481880199PTPN11c.1185C>T (p.Asp395=)
c.1071C>T (p.Asp357=)
n.394C>T
c.177C>T (p.Asp59=)
c.1182C>T (p.Asp394=)
12g.112482167T>ACA386775979PTPN11c.1186T>A (p.Tyr396Asn)
c.1072T>A (p.Tyr358Asn)
n.395T>A
c.178T>A (p.Tyr60Asn)
c.1183T>A (p.Tyr395Asn)
12g.112482167T>CCA386775982PTPN11c.1186T>C (p.Tyr396His)
c.1072T>C (p.Tyr358His)
n.395T>C
c.178T>C (p.Tyr60His)
c.1183T>C (p.Tyr395His)
 ClinVar gnomAD v4
12g.112482167T>GCA386775984PTPN11c.1186T>G (p.Tyr396Asp)
c.1072T>G (p.Tyr358Asp)
n.395T>G
c.178T>G (p.Tyr60Asp)
c.1183T>G (p.Tyr395Asp)
12g.112482168A>CCA386775986PTPN11c.1187A>C (p.Tyr396Ser)
c.1073A>C (p.Tyr358Ser)
n.396A>C
c.179A>C (p.Tyr60Ser)
c.1184A>C (p.Tyr395Ser)
12g.112482168A>GCA386775988PTPN11c.1187A>G (p.Tyr396Cys)
c.1073A>G (p.Tyr358Cys)
n.396A>G
c.179A>G (p.Tyr60Cys)
c.1184A>G (p.Tyr395Cys)
 ClinVar
12g.112482168A>TCA386775991PTPN11c.1187A>T (p.Tyr396Phe)
c.1073A>T (p.Tyr358Phe)
n.396A>T
c.179A>T (p.Tyr60Phe)
c.1184A>T (p.Tyr395Phe)
12g.112482169T>ACA386775993PTPN11c.1188T>A (p.Tyr396Ter)
c.1074T>A (p.Tyr358Ter)
n.397T>A
c.180T>A (p.Tyr60Ter)
c.1185T>A (p.Tyr395Ter)
12g.112482169T>CCA481880200PTPN11c.1188T>C (p.Tyr396=)
c.1074T>C (p.Tyr358=)
n.397T>C
c.180T>C (p.Tyr60=)
c.1185T>C (p.Tyr395=)
12g.112482169T>GCA386775995PTPN11c.1188T>G (p.Tyr396Ter)
c.1074T>G (p.Tyr358Ter)
n.397T>G
c.180T>G (p.Tyr60Ter)
c.1185T>G (p.Tyr395Ter)
12g.112482170A>CCA386776001PTPN11c.1189A>C (p.Thr397Pro)
c.1075A>C (p.Thr359Pro)
n.398A>C
c.181A>C (p.Thr61Pro)
c.1186A>C (p.Thr396Pro)
12g.112482170A>GCA386775998PTPN11c.1189A>G (p.Thr397Ala)
c.1075A>G (p.Thr359Ala)
n.398A>G
c.181A>G (p.Thr61Ala)
c.1186A>G (p.Thr396Ala)
 ClinVar
12g.112482170A>TCA386775999PTPN11c.1189A>T (p.Thr397Ser)
c.1075A>T (p.Thr359Ser)
n.398A>T
c.181A>T (p.Thr61Ser)
c.1186A>T (p.Thr396Ser)
12g.112482171C>ACA386776004PTPN11c.1190C>A (p.Thr397Lys)
c.1076C>A (p.Thr359Lys)
n.399C>A
c.182C>A (p.Thr61Lys)
c.1187C>A (p.Thr396Lys)
 dbSNP
12g.112482171C=CA2063779472PTPN11c.1190C= (p.Thr397=)
c.1076C= (p.Thr359=)
n.399C=
c.182C= (p.Thr61=)
c.1187C= (p.Thr396=)
12g.112482171C>GCA386776006PTPN11c.1190C>G (p.Thr397Arg)
c.1076C>G (p.Thr359Arg)
n.399C>G
c.182C>G (p.Thr61Arg)
c.1187C>G (p.Thr396Arg)
 dbSNP
12g.112482171C>TCA6798734PTPN11c.1190C>T (p.Thr397Met)
c.1076C>T (p.Thr359Met)
n.399C>T
c.182C>T (p.Thr61Met)
c.1187C>T (p.Thr396Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112482172G>ACA6798735PTPN11c.1191G>A (p.Thr397=)
c.1077G>A (p.Thr359=)
n.400G>A
c.183G>A (p.Thr61=)
c.1188G>A (p.Thr396=)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.112482172G>CCA481880201PTPN11c.1191G>C (p.Thr397=)
c.1077G>C (p.Thr359=)
n.400G>C
c.183G>C (p.Thr61=)
c.1188G>C (p.Thr396=)
12g.112482172G=CA2063779481PTPN11c.1191G= (p.Thr397=)
c.1077G= (p.Thr359=)
n.400G=
c.183G= (p.Thr61=)
c.1188G= (p.Thr396=)
12g.112482172G>TCA481880202PTPN11c.1191G>T (p.Thr397=)
c.1077G>T (p.Thr359=)
n.400G>T
c.183G>T (p.Thr61=)
c.1188G>T (p.Thr396=)
 ClinVar dbSNP gnomAD v4
12g.112482173C>ACA386776011PTPN11c.1192C>A (p.Leu398Ile)
c.1078C>A (p.Leu360Ile)
n.401C>A
c.184C>A (p.Leu62Ile)
c.1189C>A (p.Leu397Ile)
12g.112482173C>GCA386776013PTPN11c.1192C>G (p.Leu398Val)
c.1078C>G (p.Leu360Val)
n.401C>G
c.184C>G (p.Leu62Val)
c.1189C>G (p.Leu397Val)
 dbSNP
12g.112482173C>TCA481880203PTPN11c.1192C>T (p.Leu398=)
c.1078C>T (p.Leu360=)
n.401C>T
c.184C>T (p.Leu62=)
c.1189C>T (p.Leu397=)

Number of alleles fetched