Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.112477890C>A | CA386791176 | PTPN11 | c.967C>A (p.Pro323Thr) c.853C>A (p.Pro285Thr) c.964C>A (p.Pro322Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477890C= | CA2063775947 | PTPN11 | c.967C= (p.Pro323=) c.853C= (p.Pro285=) c.964C= (p.Pro322=) | |
12 | g.112477890C>G | CA386791177 | PTPN11 | c.967C>G (p.Pro323Ala) c.853C>G (p.Pro285Ala) c.964C>G (p.Pro322Ala) | dbSNP |
12 | g.112477890C>T | CA6798694 | PTPN11 | c.967C>T (p.Pro323Ser) c.853C>T (p.Pro285Ser) c.964C>T (p.Pro322Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477891C>A | CA386791184 | PTPN11 | c.968C>A (p.Pro323His) c.854C>A (p.Pro285His) c.965C>A (p.Pro322His) | dbSNP |
12 | g.112477891C>G | CA386791187 | PTPN11 | c.968C>G (p.Pro323Arg) c.854C>G (p.Pro285Arg) c.965C>G (p.Pro322Arg) | |
12 | g.112477891C>T | CA386791185 | PTPN11 | c.968C>T (p.Pro323Leu) c.854C>T (p.Pro285Leu) c.965C>T (p.Pro322Leu) | |
12 | g.112477892C>A | CA6798695 | PTPN11 | c.969C>A (p.Pro323=) c.855C>A (p.Pro285=) c.966C>A (p.Pro322=) | dbSNP ExAC |
12 | g.112477892C= | CA2063775948 | PTPN11 | c.969C= (p.Pro323=) c.855C= (p.Pro285=) c.966C= (p.Pro322=) | |
12 | g.112477892C>G | CA481887838 | PTPN11 | c.969C>G (p.Pro323=) c.855C>G (p.Pro285=) c.966C>G (p.Pro322=) | |
12 | g.112477892C>T | CA481887840 | PTPN11 | c.969C>T (p.Pro323=) c.855C>T (p.Pro285=) c.966C>T (p.Pro322=) | |
12 | g.112477893A= | CA2063775949 | PTPN11 | c.970A= (p.Lys324=) c.856A= (p.Lys286=) c.967A= (p.Lys323=) | |
12 | g.112477893A>C | CA386791192 | PTPN11 | c.970A>C (p.Lys324Gln) c.856A>C (p.Lys286Gln) c.967A>C (p.Lys323Gln) | dbSNP |
12 | g.112477893A>G | CA386791191 | PTPN11 | c.970A>G (p.Lys324Glu) c.856A>G (p.Lys286Glu) c.967A>G (p.Lys323Glu) | |
12 | g.112477893A>T | CA386791193 | PTPN11 | c.970A>T (p.Lys324Ter) c.856A>T (p.Lys286Ter) c.967A>T (p.Lys323Ter) | |
12 | g.112477897del | CA2727226228 | PTPN11 | c.974del (p.Lys325ArgfsTer14) c.860del (p.Lys287ArgfsTer14) c.971del (p.Lys324ArgfsTer14) | dbSNP |
12 | g.112477894A= | CA2063775950 | PTPN11 | c.971A= (p.Lys324=) c.857A= (p.Lys286=) c.968A= (p.Lys323=) | |
12 | g.112477894A>C | CA386791194 | PTPN11 | c.971A>C (p.Lys324Thr) c.857A>C (p.Lys286Thr) c.968A>C (p.Lys323Thr) | |
12 | g.112477894A>G | CA6798696 | PTPN11 | c.971A>G (p.Lys324Arg) c.857A>G (p.Lys286Arg) c.968A>G (p.Lys323Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477894A>T | CA386791195 | PTPN11 | c.971A>T (p.Lys324Ile) c.857A>T (p.Lys286Ile) c.968A>T (p.Lys323Ile) | |
12 | g.112477894_112477895insG | CA2542875511 | PTPN11 | c.971_972insG (p.Ser326GlufsTer15) c.857_858insG (p.Ser288GlufsTer15) c.968_969insG (p.Ser325GlufsTer15) | |
12 | g.112477894_112477895insGAGTTACAAGTGCAACAATTCAAAG | CA2580085816 | PTPN11 | c.971_972insGAGTTACAAGTGCAACAATTCAAAG (p.Lys325SerfsTer24) c.857_858insGAGTTACAAGTGCAACAATTCAAAG (p.Lys287SerfsTer24) c.968_969insGAGTTACAAGTGCAACAATTCAAAG (p.Lys324SerfsTer24) | ClinVar |
12 | g.112477895A>C | CA386791196 | PTPN11 | c.972A>C (p.Lys324Asn) c.858A>C (p.Lys286Asn) c.969A>C (p.Lys323Asn) | ClinVar |
12 | g.112477895A>G | CA481887844 | PTPN11 | c.972A>G (p.Lys324=) c.858A>G (p.Lys286=) c.969A>G (p.Lys323=) | |
12 | g.112477895A>T | CA386791197 | PTPN11 | c.972A>T (p.Lys324Asn) c.858A>T (p.Lys286Asn) c.969A>T (p.Lys323Asn) | |
12 | g.112477895_112477896insGTTACAAGTGCAACAATTCAAAGC | CA2547704546 | PTPN11 | c.972_973insGTTACAAGTGCAACAATTCAAAGC (p.Lys324_Lys325insValThrSerAlaThrIleGlnSer) c.858_859insGTTACAAGTGCAACAATTCAAAGC (p.Lys286_Lys287insValThrSerAlaThrIleGlnSer) c.969_970insGTTACAAGTGCAACAATTCAAAGC (p.Lys323_Lys324insValThrSerAlaThrIleGlnSer) | |
12 | g.112477896A>C | CA386791198 | PTPN11 | c.973A>C (p.Lys325Gln) c.859A>C (p.Lys287Gln) c.970A>C (p.Lys324Gln) | |
12 | g.112477896A>G | CA386791200 | PTPN11 | c.973A>G (p.Lys325Glu) c.859A>G (p.Lys287Glu) c.970A>G (p.Lys324Glu) | |
12 | g.112477896A>T | CA386791201 | PTPN11 | c.973A>T (p.Lys325Ter) c.859A>T (p.Lys287Ter) c.970A>T (p.Lys324Ter) | |
12 | g.112477897A>C | CA386791203 | PTPN11 | c.974A>C (p.Lys325Thr) c.860A>C (p.Lys287Thr) c.971A>C (p.Lys324Thr) | COSMIC |
12 | g.112477897A>G | CA386791205 | PTPN11 | c.974A>G (p.Lys325Arg) c.860A>G (p.Lys287Arg) c.971A>G (p.Lys324Arg) | |
12 | g.112477897A>T | CA386791208 | PTPN11 | c.974A>T (p.Lys325Met) c.860A>T (p.Lys287Met) c.971A>T (p.Lys324Met) | |
12 | g.112477898G>A | CA481887853 | PTPN11 | c.975G>A (p.Lys325=) c.861G>A (p.Lys287=) c.972G>A (p.Lys324=) | |
12 | g.112477898G>C | CA386791212 | PTPN11 | c.975G>C (p.Lys325Asn) c.861G>C (p.Lys287Asn) c.972G>C (p.Lys324Asn) | |
12 | g.112477898G>T | CA386791213 | PTPN11 | c.975G>T (p.Lys325Asn) c.861G>T (p.Lys287Asn) c.972G>T (p.Lys324Asn) | |
12 | g.112477899A= | CA2063775951 | PTPN11 | c.976A= (p.Ser326=) c.862A= (p.Ser288=) c.973A= (p.Ser325=) | |
12 | g.112477899A>C | CA386791222 | PTPN11 | c.976A>C (p.Ser326Arg) c.862A>C (p.Ser288Arg) c.973A>C (p.Ser325Arg) | |
12 | g.112477899A>G | CA386791218 | PTPN11 | c.976A>G (p.Ser326Gly) c.862A>G (p.Ser288Gly) c.973A>G (p.Ser325Gly) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477899A>T | CA386791217 | PTPN11 | c.976A>T (p.Ser326Cys) c.862A>T (p.Ser288Cys) c.973A>T (p.Ser325Cys) | |
12 | g.112477900G>A | CA386791225 | PTPN11 | c.977G>A (p.Ser326Asn) c.863G>A (p.Ser288Asn) c.974G>A (p.Ser325Asn) | gnomAD v4 |
12 | g.112477900G>C | CA386791226 | PTPN11 | c.977G>C (p.Ser326Thr) c.863G>C (p.Ser288Thr) c.974G>C (p.Ser325Thr) | |
12 | g.112477900G>T | CA386791229 | PTPN11 | c.977G>T (p.Ser326Ile) c.863G>T (p.Ser288Ile) c.974G>T (p.Ser325Ile) | |
12 | g.112477901T>A | CA386791232 | PTPN11 | c.978T>A (p.Ser326Arg) c.864T>A (p.Ser288Arg) c.975T>A (p.Ser325Arg) | |
12 | g.112477901T>C | CA481887858 | PTPN11 | c.978T>C (p.Ser326=) c.864T>C (p.Ser288=) c.975T>C (p.Ser325=) | |
12 | g.112477901T>G | CA386791234 | PTPN11 | c.978T>G (p.Ser326Arg) c.864T>G (p.Ser288Arg) c.975T>G (p.Ser325Arg) | |
12 | g.112477902T>A | CA386791237 | PTPN11 | c.979T>A (p.Tyr327Asn) c.865T>A (p.Tyr289Asn) c.976T>A (p.Tyr326Asn) | |
12 | g.112477902T>C | CA386791238 | PTPN11 | c.979T>C (p.Tyr327His) c.865T>C (p.Tyr289His) c.976T>C (p.Tyr326His) | |
12 | g.112477902T>G | CA386791240 | PTPN11 | c.979T>G (p.Tyr327Asp) c.865T>G (p.Tyr289Asp) c.976T>G (p.Tyr326Asp) | |
12 | g.112477903A= | CA2063775952 | PTPN11 | c.980A= (p.Tyr327=) c.866A= (p.Tyr289=) c.977A= (p.Tyr326=) | |
12 | g.112477903A>C | CA386791243 | PTPN11 | c.980A>C (p.Tyr327Ser) c.866A>C (p.Tyr289Ser) c.977A>C (p.Tyr326Ser) | |
12 | g.112477903A>G | CA243712018 | PTPN11 | c.980A>G (p.Tyr327Cys) c.866A>G (p.Tyr289Cys) c.977A>G (p.Tyr326Cys) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477903A>T | CA386791248 | PTPN11 | c.980A>T (p.Tyr327Phe) c.866A>T (p.Tyr289Phe) c.977A>T (p.Tyr326Phe) | |
12 | g.112477904C>A | CA386791255 | PTPN11 | c.981C>A (p.Tyr327Ter) c.867C>A (p.Tyr289Ter) c.978C>A (p.Tyr326Ter) | |
12 | g.112477904C>G | CA386791251 | PTPN11 | c.981C>G (p.Tyr327Ter) c.867C>G (p.Tyr289Ter) c.978C>G (p.Tyr326Ter) | |
12 | g.112477904C>T | CA481887860 | PTPN11 | c.981C>T (p.Tyr327=) c.867C>T (p.Tyr289=) c.978C>T (p.Tyr326=) | dbSNP |
12 | g.112477905A>C | CA386791258 | PTPN11 | c.982A>C (p.Ile328Leu) c.868A>C (p.Ile290Leu) c.979A>C (p.Ile327Leu) | |
12 | g.112477905A>G | CA386791263 | PTPN11 | c.982A>G (p.Ile328Val) c.868A>G (p.Ile290Val) c.979A>G (p.Ile327Val) | gnomAD v4 |
12 | g.112477905A>T | CA386791264 | PTPN11 | c.982A>T (p.Ile328Phe) c.868A>T (p.Ile290Phe) c.979A>T (p.Ile327Phe) | |
12 | g.112477906T>A | CA386791267 | PTPN11 | c.983T>A (p.Ile328Asn) c.869T>A (p.Ile290Asn) c.980T>A (p.Ile327Asn) | |
12 | g.112477906T>C | CA6798697 | PTPN11 | c.983T>C (p.Ile328Thr) c.869T>C (p.Ile290Thr) c.980T>C (p.Ile327Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477906T>G | CA386791270 | PTPN11 | c.983T>G (p.Ile328Ser) c.869T>G (p.Ile290Ser) c.980T>G (p.Ile327Ser) | |
12 | g.112477906T= | CA2063775953 | PTPN11 | c.983T= (p.Ile328=) c.869T= (p.Ile290=) c.980T= (p.Ile327=) | |
12 | g.112477907T>A | CA481887864 | PTPN11 | c.984T>A (p.Ile328=) c.870T>A (p.Ile290=) c.981T>A (p.Ile327=) | |
12 | g.112477907T>C | CA481887862 | PTPN11 | c.984T>C (p.Ile328=) c.870T>C (p.Ile290=) c.981T>C (p.Ile327=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.112477907T>G | CA386791274 | PTPN11 | c.984T>G (p.Ile328Met) c.870T>G (p.Ile290Met) c.981T>G (p.Ile327Met) | |
12 | g.112477907T= | CA2063775954 | PTPN11 | c.984T= (p.Ile328=) c.870T= (p.Ile290=) c.981T= (p.Ile327=) | |
12 | g.112477908G>A | CA6798698 | PTPN11 | c.985G>A (p.Ala329Thr) c.871G>A (p.Ala291Thr) c.982G>A (p.Ala328Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477908G>C | CA386791278 | PTPN11 | c.985G>C (p.Ala329Pro) c.871G>C (p.Ala291Pro) c.982G>C (p.Ala328Pro) | |
12 | g.112477908G= | CA2063775955 | PTPN11 | c.985G= (p.Ala329=) c.871G= (p.Ala291=) c.982G= (p.Ala328=) | |
12 | g.112477908G>T | CA386791279 | PTPN11 | c.985G>T (p.Ala329Ser) c.871G>T (p.Ala291Ser) c.982G>T (p.Ala328Ser) | gnomAD v4 |
12 | g.112477909C>A | CA386791284 | PTPN11 | c.986C>A (p.Ala329Asp) c.872C>A (p.Ala291Asp) c.983C>A (p.Ala328Asp) | |
12 | g.112477909C= | CA2063775956 | PTPN11 | c.986C= (p.Ala329=) c.872C= (p.Ala291=) c.983C= (p.Ala328=) | |
12 | g.112477909C>G | CA386791285 | PTPN11 | c.986C>G (p.Ala329Gly) c.872C>G (p.Ala291Gly) c.983C>G (p.Ala328Gly) | |
12 | g.112477909C>T | CA386791287 | PTPN11 | c.986C>T (p.Ala329Val) c.872C>T (p.Ala291Val) c.983C>T (p.Ala328Val) | dbSNP |
12 | g.112477910C>A | CA481887866 | PTPN11 | c.987C>A (p.Ala329=) c.873C>A (p.Ala291=) c.984C>A (p.Ala328=) | dbSNP |
12 | g.112477910C>G | CA481887867 | PTPN11 | c.987C>G (p.Ala329=) c.873C>G (p.Ala291=) c.984C>G (p.Ala328=) | |
12 | g.112477910C>T | CA481887869 | PTPN11 | c.987C>T (p.Ala329=) c.873C>T (p.Ala291=) c.984C>T (p.Ala328=) | |
12 | g.112477911A>C | CA386791295 | PTPN11 | c.988A>C (p.Thr330Pro) c.874A>C (p.Thr292Pro) c.985A>C (p.Thr329Pro) | |
12 | g.112477911A>G | CA386791291 | PTPN11 | c.988A>G (p.Thr330Ala) c.874A>G (p.Thr292Ala) c.985A>G (p.Thr329Ala) | |
12 | g.112477911A>T | CA386791294 | PTPN11 | c.988A>T (p.Thr330Ser) c.874A>T (p.Thr292Ser) c.985A>T (p.Thr329Ser) | |
12 | g.112477912C>A | CA386791297 | PTPN11 | c.989C>A (p.Thr330Lys) c.875C>A (p.Thr292Lys) c.986C>A (p.Thr329Lys) | |
12 | g.112477912C>G | CA386791300 | PTPN11 | c.989C>G (p.Thr330Arg) c.875C>G (p.Thr292Arg) c.986C>G (p.Thr329Arg) | |
12 | g.112477912C>T | CA386791303 | PTPN11 | c.989C>T (p.Thr330Ile) c.875C>T (p.Thr292Ile) c.986C>T (p.Thr329Ile) | |
12 | g.112477913A= | CA2063775957 | PTPN11 | c.990A= (p.Thr330=) c.876A= (p.Thr292=) c.987A= (p.Thr329=) | |
12 | g.112477913A>C | CA282105 | PTPN11 | c.990A>C (p.Thr330=) c.876A>C (p.Thr292=) c.987A>C (p.Thr329=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477913A>G | CA481887872 | PTPN11 | c.990A>G (p.Thr330=) c.876A>G (p.Thr292=) c.987A>G (p.Thr329=) | |
12 | g.112477913A>T | CA481887873 | PTPN11 | c.990A>T (p.Thr330=) c.876A>T (p.Thr292=) c.987A>T (p.Thr329=) | |
12 | g.112477914C>A | CA386791308 | PTPN11 | c.991C>A (p.Gln331Lys) c.877C>A (p.Gln293Lys) c.988C>A (p.Gln330Lys) | |
12 | g.112477914C>G | CA386791311 | PTPN11 | c.991C>G (p.Gln331Glu) c.877C>G (p.Gln293Glu) c.988C>G (p.Gln330Glu) | |
12 | g.112477914C>T | CA386791313 | PTPN11 | c.991C>T (p.Gln331Ter) c.877C>T (p.Gln293Ter) c.988C>T (p.Gln330Ter) | ClinVar dbSNP |
12 | g.112477915A>C | CA386791316 | PTPN11 | c.992A>C (p.Gln331Pro) c.878A>C (p.Gln293Pro) c.989A>C (p.Gln330Pro) | |
12 | g.112477915A>G | CA386791319 | PTPN11 | c.992A>G (p.Gln331Arg) c.878A>G (p.Gln293Arg) c.989A>G (p.Gln330Arg) | |
12 | g.112477915A>T | CA386791321 | PTPN11 | c.992A>T (p.Gln331Leu) c.878A>T (p.Gln293Leu) c.989A>T (p.Gln330Leu) | |
12 | g.112477916A>C | CA386791322 | PTPN11 | c.993A>C (p.Gln331His) c.879A>C (p.Gln293His) c.990A>C (p.Gln330His) | |
12 | g.112477916A>G | CA481887875 | PTPN11 | c.993A>G (p.Gln331=) c.879A>G (p.Gln293=) c.990A>G (p.Gln330=) | |
12 | g.112477916A>T | CA386791324 | PTPN11 | c.993A>T (p.Gln331His) c.879A>T (p.Gln293His) c.990A>T (p.Gln330His) | |
12 | g.112477917G>A | CA386791331 | PTPN11 | c.994G>A (p.Gly332Ser) c.880G>A (p.Gly294Ser) c.991G>A (p.Gly331Ser) | |
12 | g.112477917G>C | CA386791333 | PTPN11 | c.994G>C (p.Gly332Arg) c.880G>C (p.Gly294Arg) c.991G>C (p.Gly331Arg) | |
12 | g.112477917G>T | CA386791329 | PTPN11 | c.994G>T (p.Gly332Cys) c.880G>T (p.Gly294Cys) c.991G>T (p.Gly331Cys) | |
12 | g.112477918G>A | CA386791341 | PTPN11 | c.995G>A (p.Gly332Asp) c.881G>A (p.Gly294Asp) c.992G>A (p.Gly331Asp) | dbSNP |
12 | g.112477918G>C | CA386791337 | PTPN11 | c.995G>C (p.Gly332Ala) c.881G>C (p.Gly294Ala) c.992G>C (p.Gly331Ala) | dbSNP |
12 | g.112477918G>T | CA386791339 | PTPN11 | c.995G>T (p.Gly332Val) c.881G>T (p.Gly294Val) c.992G>T (p.Gly331Val) | dbSNP |
12 | g.112477919C>A | CA481887877 | PTPN11 | c.996C>A (p.Gly332=) c.882C>A (p.Gly294=) c.993C>A (p.Gly331=) | gnomAD v4 |
12 | g.112477919C= | CA2063775958 | PTPN11 | c.996C= (p.Gly332=) c.882C= (p.Gly294=) c.993C= (p.Gly331=) | |
12 | g.112477919C>G | CA481887878 | PTPN11 | c.996C>G (p.Gly332=) c.882C>G (p.Gly294=) c.993C>G (p.Gly331=) | |
12 | g.112477919C>T | CA282108 | PTPN11 | c.996C>T (p.Gly332=) c.882C>T (p.Gly294=) c.993C>T (p.Gly331=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.112477920T>A | CA297091 | PTPN11 | c.997T>A (p.Cys333Ser) c.883T>A (p.Cys295Ser) c.994T>A (p.Cys332Ser) | ClinVar dbSNP gnomAD v4 |
12 | g.112477920T>C | CA386791347 | PTPN11 | c.997T>C (p.Cys333Arg) c.883T>C (p.Cys295Arg) c.994T>C (p.Cys332Arg) | |
12 | g.112477920T>G | CA386791350 | PTPN11 | c.997T>G (p.Cys333Gly) c.883T>G (p.Cys295Gly) c.994T>G (p.Cys332Gly) | gnomAD v4 |
12 | g.112477920T= | CA2063775959 | PTPN11 | c.997T= (p.Cys333=) c.883T= (p.Cys295=) c.994T= (p.Cys332=) | |
12 | g.112477921G>A | CA386791353 | PTPN11 | c.998G>A (p.Cys333Tyr) c.884G>A (p.Cys295Tyr) c.995G>A (p.Cys332Tyr) | dbSNP |
12 | g.112477921G>C | CA386791356 | PTPN11 | c.998G>C (p.Cys333Ser) c.884G>C (p.Cys295Ser) c.995G>C (p.Cys332Ser) | |
12 | g.112477921G>T | CA386791358 | PTPN11 | c.998G>T (p.Cys333Phe) c.884G>T (p.Cys295Phe) c.995G>T (p.Cys332Phe) | |
12 | g.112477922C>A | CA386791359 | PTPN11 | c.999C>A (p.Cys333Ter) c.885C>A (p.Cys295Ter) c.996C>A (p.Cys332Ter) | dbSNP |
12 | g.112477922C>G | CA386791362 | PTPN11 | c.999C>G (p.Cys333Trp) c.885C>G (p.Cys295Trp) c.996C>G (p.Cys332Trp) | |
12 | g.112477922C>T | CA481887880 | PTPN11 | c.999C>T (p.Cys333=) c.885C>T (p.Cys295=) c.996C>T (p.Cys332=) | dbSNP gnomAD v4 |
12 | g.112477923C>A | CA386791364 | PTPN11 | c.1000C>A (p.Leu334Met) c.886C>A (p.Leu296Met) c.997C>A (p.Leu333Met) | |
12 | g.112477923C>G | CA386791366 | PTPN11 | c.1000C>G (p.Leu334Val) c.886C>G (p.Leu296Val) c.997C>G (p.Leu333Val) | |
12 | g.112477923C>T | CA481887881 | PTPN11 | c.1000C>T (p.Leu334=) c.886C>T (p.Leu296=) c.997C>T (p.Leu333=) | COSMIC |
12 | g.112477924T>A | CA386791368 | PTPN11 | c.1001T>A (p.Leu334Gln) c.887T>A (p.Leu296Gln) c.998T>A (p.Leu333Gln) | dbSNP |
12 | g.112477924T>C | CA386791373 | PTPN11 | c.1001T>C (p.Leu334Pro) c.887T>C (p.Leu296Pro) c.998T>C (p.Leu333Pro) | |
12 | g.112477924T>G | CA386791371 | PTPN11 | c.1001T>G (p.Leu334Arg) c.887T>G (p.Leu296Arg) c.998T>G (p.Leu333Arg) | |
12 | g.112477924T= | CA2063775960 | PTPN11 | c.1001T= (p.Leu334=) c.887T= (p.Leu296=) c.998T= (p.Leu333=) | |
12 | g.112477925G>A | CA481887883 | PTPN11 | c.1002G>A (p.Leu334=) c.888G>A (p.Leu296=) c.999G>A (p.Leu333=) | dbSNP |
12 | g.112477925G>C | CA481887884 | PTPN11 | c.1002G>C (p.Leu334=) c.888G>C (p.Leu296=) c.999G>C (p.Leu333=) | |
12 | g.112477925G= | CA2063775961 | PTPN11 | c.1002G= (p.Leu334=) c.888G= (p.Leu296=) c.999G= (p.Leu333=) | |
12 | g.112477925G>T | CA481887885 | PTPN11 | c.1002G>T (p.Leu334=) c.888G>T (p.Leu296=) c.999G>T (p.Leu333=) | dbSNP gnomAD v4 |
12 | g.112477926C>A | CA386791375 | PTPN11 | c.1003C>A (p.Gln335Lys) c.889C>A (p.Gln297Lys) c.1000C>A (p.Gln334Lys) | |
12 | g.112477926C>G | CA386791376 | PTPN11 | c.1003C>G (p.Gln335Glu) c.889C>G (p.Gln297Glu) c.1000C>G (p.Gln334Glu) | |
12 | g.112477926C>T | CA386791378 | PTPN11 | c.1003C>T (p.Gln335Ter) c.889C>T (p.Gln297Ter) c.1000C>T (p.Gln334Ter) | dbSNP |
12 | g.112477927A= | CA2063775962 | PTPN11 | c.1004A= (p.Gln335=) c.890A= (p.Gln297=) c.1001A= (p.Gln334=) | |
12 | g.112477927A>C | CA10603230 | PTPN11 | c.1004A>C (p.Gln335Pro) c.890A>C (p.Gln297Pro) c.1001A>C (p.Gln334Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477927A>G | CA386791381 | PTPN11 | c.1004A>G (p.Gln335Arg) c.890A>G (p.Gln297Arg) c.1001A>G (p.Gln334Arg) | |
12 | g.112477927A>T | CA386791382 | PTPN11 | c.1004A>T (p.Gln335Leu) c.890A>T (p.Gln297Leu) c.1001A>T (p.Gln334Leu) | |
12 | g.112477930del | CA2621024669 | PTPN11 | c.1007del (p.Asn336ThrfsTer3) c.893del (p.Asn298ThrfsTer3) c.1004del (p.Asn335ThrfsTer3) | gnomAD v4 |
12 | g.112477928A>C | CA386791384 | PTPN11 | c.1005A>C (p.Gln335His) c.891A>C (p.Gln297His) c.1002A>C (p.Gln334His) | |
12 | g.112477928A>G | CA481887888 | PTPN11 | c.1005A>G (p.Gln335=) c.891A>G (p.Gln297=) c.1002A>G (p.Gln334=) | gnomAD v4 |
12 | g.112477928A>T | CA386791386 | PTPN11 | c.1005A>T (p.Gln335His) c.891A>T (p.Gln297His) c.1002A>T (p.Gln334His) | |
12 | g.112477929A>C | CA386791388 | PTPN11 | c.1006A>C (p.Asn336His) c.892A>C (p.Asn298His) c.1003A>C (p.Asn335His) | |
12 | g.112477929A>G | CA386791389 | PTPN11 | c.1006A>G (p.Asn336Asp) c.892A>G (p.Asn298Asp) c.1003A>G (p.Asn335Asp) | |
12 | g.112477929A>T | CA386791391 | PTPN11 | c.1006A>T (p.Asn336Tyr) c.892A>T (p.Asn298Tyr) c.1003A>T (p.Asn335Tyr) | |
12 | g.112477930A>C | CA386791395 | PTPN11 | c.1007A>C (p.Asn336Thr) c.893A>C (p.Asn298Thr) c.1004A>C (p.Asn335Thr) | |
12 | g.112477930A>G | CA386791396 | PTPN11 | c.1007A>G (p.Asn336Ser) c.893A>G (p.Asn298Ser) c.1004A>G (p.Asn335Ser) | |
12 | g.112477930A>T | CA386791393 | PTPN11 | c.1007A>T (p.Asn336Ile) c.893A>T (p.Asn298Ile) c.1004A>T (p.Asn335Ile) | |
12 | g.112477931C>A | CA386791398 | PTPN11 | c.1008C>A (p.Asn336Lys) c.894C>A (p.Asn298Lys) c.1005C>A (p.Asn335Lys) | |
12 | g.112477931C= | CA2063775963 | PTPN11 | c.1008C= (p.Asn336=) c.894C= (p.Asn298=) c.1005C= (p.Asn335=) | |
12 | g.112477931C>G | CA386791400 | PTPN11 | c.1008C>G (p.Asn336Lys) c.894C>G (p.Asn298Lys) c.1005C>G (p.Asn335Lys) | |
12 | g.112477931C>T | CA481887890 | PTPN11 | c.1008C>T (p.Asn336=) c.894C>T (p.Asn298=) c.1005C>T (p.Asn335=) | ClinVar dbSNP |
12 | g.112477932A>C | CA386791403 | PTPN11 | c.1009A>C (p.Thr337Pro) c.895A>C (p.Thr299Pro) c.1A>C (p.Thr1Pro) c.1006A>C (p.Thr336Pro) | |
12 | g.112477932A>G | CA386791405 | PTPN11 | c.1009A>G (p.Thr337Ala) c.895A>G (p.Thr299Ala) c.1A>G (p.Thr1Ala) c.1006A>G (p.Thr336Ala) | |
12 | g.112477932A>T | CA386791407 | PTPN11 | c.1009A>T (p.Thr337Ser) c.895A>T (p.Thr299Ser) c.1A>T (p.Thr1Ser) c.1006A>T (p.Thr336Ser) | |
12 | g.112477933C>A | CA386791409 | PTPN11 | c.1010C>A (p.Thr337Lys) c.896C>A (p.Thr299Lys) c.2C>A (p.Thr1Lys) c.1007C>A (p.Thr336Lys) | dbSNP |
12 | g.112477933C= | CA2063775964 | PTPN11 | c.1010C= (p.Thr337=) c.896C= (p.Thr299=) c.2C= (p.Thr1=) c.1007C= (p.Thr336=) | |
12 | g.112477933C>G | CA386791411 | PTPN11 | c.1010C>G (p.Thr337Arg) c.896C>G (p.Thr299Arg) c.2C>G (p.Thr1Arg) c.1007C>G (p.Thr336Arg) | |
12 | g.112477933C>T | CA243712024 | PTPN11 | c.1010C>T (p.Thr337Met) c.896C>T (p.Thr299Met) c.2C>T (p.Thr1Met) c.1007C>T (p.Thr336Met) | dbSNP |
12 | g.112477934G>A | CA6798699 | PTPN11 | c.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 |
12 | g.112477934G>C | CA6798700 | PTPN11 | c.1011G>C (p.Thr337=) c.897G>C (p.Thr299=) c.3G>C (p.Thr1=) c.1008G>C (p.Thr336=) | ClinVar dbSNP ExAC gnomAD v2 |
12 | g.112477934G= | CA2063775965 | PTPN11 | c.1011G= (p.Thr337=) c.897G= (p.Thr299=) c.3G= (p.Thr1=) c.1008G= (p.Thr336=) | |
12 | g.112477934G>T | CA481887894 | PTPN11 | c.1011G>T (p.Thr337=) c.897G>T (p.Thr299=) c.3G>T (p.Thr1=) c.1008G>T (p.Thr336=) | |
12 | g.112477935G>A | CA386791415 | PTPN11 | c.1012G>A (p.Val338Met) c.898G>A (p.Val300Met) c.4G>A (p.Val2Met) c.1009G>A (p.Val337Met) | |
12 | g.112477935G>C | CA386791416 | PTPN11 | c.1012G>C (p.Val338Leu) c.898G>C (p.Val300Leu) c.4G>C (p.Val2Leu) c.1009G>C (p.Val337Leu) | |
12 | g.112477935G>T | CA386791418 | PTPN11 | c.1012G>T (p.Val338Leu) c.898G>T (p.Val300Leu) c.4G>T (p.Val2Leu) c.1009G>T (p.Val337Leu) | |
12 | g.112477936T>A | CA386791425 | PTPN11 | c.1013T>A (p.Val338Glu) c.899T>A (p.Val300Glu) c.5T>A (p.Val2Glu) c.1010T>A (p.Val337Glu) | |
12 | g.112477936T>C | CA386791423 | PTPN11 | c.1013T>C (p.Val338Ala) c.899T>C (p.Val300Ala) c.5T>C (p.Val2Ala) c.1010T>C (p.Val337Ala) | |
12 | g.112477936T>G | CA386791421 | PTPN11 | c.1013T>G (p.Val338Gly) c.899T>G (p.Val300Gly) c.5T>G (p.Val2Gly) c.1010T>G (p.Val337Gly) | |
12 | g.112477937G>A | CA481887958 | PTPN11 | c.1014G>A (p.Val338=) c.900G>A (p.Val300=) c.6G>A (p.Val2=) c.1011G>A (p.Val337=) | dbSNP |
12 | g.112477937G>C | CA481887959 | PTPN11 | c.1014G>C (p.Val338=) c.900G>C (p.Val300=) c.6G>C (p.Val2=) c.1011G>C (p.Val337=) | |
12 | g.112477937G= | CA2063775966 | PTPN11 | c.1014G= (p.Val338=) c.900G= (p.Val300=) c.6G= (p.Val2=) c.1011G= (p.Val337=) | |
12 | g.112477937G>T | CA481887960 | PTPN11 | c.1014G>T (p.Val338=) c.900G>T (p.Val300=) c.6G>T (p.Val2=) c.1011G>T (p.Val337=) | |
12 | g.112477938A>C | CA386791427 | PTPN11 | c.1015A>C (p.Asn339His) c.901A>C (p.Asn301His) c.7A>C (p.Asn3His) c.1012A>C (p.Asn338His) | |
12 | g.112477938A>G | CA386791429 | PTPN11 | c.1015A>G (p.Asn339Asp) c.901A>G (p.Asn301Asp) c.7A>G (p.Asn3Asp) c.1012A>G (p.Asn338Asp) | gnomAD v4 |
12 | g.112477938A>T | CA386791430 | PTPN11 | c.1015A>T (p.Asn339Tyr) c.901A>T (p.Asn301Tyr) c.7A>T (p.Asn3Tyr) c.1012A>T (p.Asn338Tyr) | |
12 | g.112477939A>C | CA386791431 | PTPN11 | c.1016A>C (p.Asn339Thr) c.902A>C (p.Asn301Thr) c.8A>C (p.Asn3Thr) c.1013A>C (p.Asn338Thr) | |
12 | g.112477939A>G | CA386791432 | PTPN11 | c.1016A>G (p.Asn339Ser) c.902A>G (p.Asn301Ser) c.8A>G (p.Asn3Ser) c.1013A>G (p.Asn338Ser) | gnomAD v4 COSMIC |
12 | g.112477939A>T | CA386791433 | PTPN11 | c.1016A>T (p.Asn339Ile) c.902A>T (p.Asn301Ile) c.8A>T (p.Asn3Ile) c.1013A>T (p.Asn338Ile) | |
12 | g.112477940T>A | CA386791434 | PTPN11 | c.1017T>A (p.Asn339Lys) c.903T>A (p.Asn301Lys) c.9T>A (p.Asn3Lys) c.1014T>A (p.Asn338Lys) | |
12 | g.112477940T>C | CA481887964 | PTPN11 | c.1017T>C (p.Asn339=) c.903T>C (p.Asn301=) c.9T>C (p.Asn3=) c.1014T>C (p.Asn338=) | ClinVar gnomAD v4 |
12 | g.112477940T>G | CA386791435 | PTPN11 | c.1017T>G (p.Asn339Lys) c.903T>G (p.Asn301Lys) c.9T>G (p.Asn3Lys) c.1014T>G (p.Asn338Lys) | |
12 | g.112477941G>A | CA386791437 | PTPN11 | c.1018G>A (p.Asp340Asn) c.904G>A (p.Asp302Asn) c.10G>A (p.Asp4Asn) c.1015G>A (p.Asp339Asn) | |
12 | g.112477941G>C | CA386791438 | PTPN11 | c.1018G>C (p.Asp340His) c.904G>C (p.Asp302His) c.10G>C (p.Asp4His) c.1015G>C (p.Asp339His) | |
12 | g.112477941G>T | CA386791440 | PTPN11 | c.1018G>T (p.Asp340Tyr) c.904G>T (p.Asp302Tyr) c.10G>T (p.Asp4Tyr) c.1015G>T (p.Asp339Tyr) | ClinVar dbSNP |
12 | g.112477942A>C | CA386791442 | PTPN11 | c.1019A>C (p.Asp340Ala) c.905A>C (p.Asp302Ala) c.11A>C (p.Asp4Ala) c.1016A>C (p.Asp339Ala) | |
12 | g.112477942A>G | CA386791444 | PTPN11 | c.1019A>G (p.Asp340Gly) c.905A>G (p.Asp302Gly) c.11A>G (p.Asp4Gly) c.1016A>G (p.Asp339Gly) | |
12 | g.112477942A>T | CA386791445 | PTPN11 | c.1019A>T (p.Asp340Val) c.905A>T (p.Asp302Val) c.11A>T (p.Asp4Val) c.1016A>T (p.Asp339Val) | |
12 | g.112477943C>A | CA386791449 | PTPN11 | c.1020C>A (p.Asp340Glu) c.906C>A (p.Asp302Glu) c.12C>A (p.Asp4Glu) c.1017C>A (p.Asp339Glu) | |
12 | g.112477943C= | CA2063775967 | PTPN11 | c.1020C= (p.Asp340=) c.906C= (p.Asp302=) c.12C= (p.Asp4=) c.1017C= (p.Asp339=) | |
12 | g.112477943C>G | CA386791447 | PTPN11 | c.1020C>G (p.Asp340Glu) c.906C>G (p.Asp302Glu) c.12C>G (p.Asp4Glu) c.1017C>G (p.Asp339Glu) | |
12 | g.112477943C>T | CA481887967 | PTPN11 | c.1020C>T (p.Asp340=) c.906C>T (p.Asp302=) c.12C>T (p.Asp4=) c.1017C>T (p.Asp339=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477944T>A | CA386791451 | PTPN11 | c.1021T>A (p.Phe341Ile) c.907T>A (p.Phe303Ile) c.13T>A (p.Phe5Ile) c.1018T>A (p.Phe340Ile) | |
12 | g.112477944T>C | CA386791454 | PTPN11 | c.1021T>C (p.Phe341Leu) c.907T>C (p.Phe303Leu) c.13T>C (p.Phe5Leu) c.1018T>C (p.Phe340Leu) | |
12 | g.112477944T>G | CA386791453 | PTPN11 | c.1021T>G (p.Phe341Val) c.907T>G (p.Phe303Val) c.13T>G (p.Phe5Val) c.1018T>G (p.Phe340Val) | |
12 | g.112477945T>A | CA386791457 | PTPN11 | c.1022T>A (p.Phe341Tyr) c.908T>A (p.Phe303Tyr) c.14T>A (p.Phe5Tyr) c.1019T>A (p.Phe340Tyr) | |
12 | g.112477945T>C | CA386791460 | PTPN11 | c.1022T>C (p.Phe341Ser) c.908T>C (p.Phe303Ser) c.14T>C (p.Phe5Ser) c.1019T>C (p.Phe340Ser) | |
12 | g.112477945T>G | CA386791459 | PTPN11 | c.1022T>G (p.Phe341Cys) c.908T>G (p.Phe303Cys) c.14T>G (p.Phe5Cys) c.1019T>G (p.Phe340Cys) | |
12 | g.112477946T>A | CA386791463 | PTPN11 | c.1023T>A (p.Phe341Leu) c.909T>A (p.Phe303Leu) c.15T>A (p.Phe5Leu) c.1020T>A (p.Phe340Leu) | |
12 | g.112477946T>C | CA6798701 | PTPN11 | c.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 |
12 | g.112477946T>G | CA386791466 | PTPN11 | c.1023T>G (p.Phe341Leu) c.909T>G (p.Phe303Leu) c.15T>G (p.Phe5Leu) c.1020T>G (p.Phe340Leu) | |
12 | g.112477946T= | CA2063775968 | PTPN11 | c.1023T= (p.Phe341=) c.909T= (p.Phe303=) c.15T= (p.Phe5=) c.1020T= (p.Phe340=) | |
12 | g.112477947T>A | CA386791468 | PTPN11 | c.1024T>A (p.Trp342Arg) c.910T>A (p.Trp304Arg) c.16T>A (p.Trp6Arg) c.1021T>A (p.Trp341Arg) | |
12 | g.112477947T>C | CA386791470 | PTPN11 | c.1024T>C (p.Trp342Arg) c.910T>C (p.Trp304Arg) c.16T>C (p.Trp6Arg) c.1021T>C (p.Trp341Arg) | |
12 | g.112477947T>G | CA386791471 | PTPN11 | c.1024T>G (p.Trp342Gly) c.910T>G (p.Trp304Gly) c.16T>G (p.Trp6Gly) c.1021T>G (p.Trp341Gly) | |
12 | g.112477948G>A | CA386791474 | PTPN11 | c.1025G>A (p.Trp342Ter) c.911G>A (p.Trp304Ter) c.17G>A (p.Trp6Ter) c.1022G>A (p.Trp341Ter) | COSMIC |
12 | g.112477948G>C | CA386791475 | PTPN11 | c.1025G>C (p.Trp342Ser) c.911G>C (p.Trp304Ser) c.17G>C (p.Trp6Ser) c.1022G>C (p.Trp341Ser) | |
12 | g.112477948G>T | CA386791476 | PTPN11 | c.1025G>T (p.Trp342Leu) c.911G>T (p.Trp304Leu) c.17G>T (p.Trp6Leu) c.1022G>T (p.Trp341Leu) | |
12 | g.112477949G>A | CA386791479 | PTPN11 | c.1026G>A (p.Trp342Ter) c.912G>A (p.Trp304Ter) c.18G>A (p.Trp6Ter) c.1023G>A (p.Trp341Ter) | |
12 | g.112477949G>C | CA386791481 | PTPN11 | c.1026G>C (p.Trp342Cys) c.912G>C (p.Trp304Cys) c.18G>C (p.Trp6Cys) c.1023G>C (p.Trp341Cys) | |
12 | g.112477949G>T | CA386791482 | PTPN11 | c.1026G>T (p.Trp342Cys) c.912G>T (p.Trp304Cys) c.18G>T (p.Trp6Cys) c.1023G>T (p.Trp341Cys) | |
12 | g.112477950C>A | CA481887981 | PTPN11 | c.1027C>A (p.Arg343=) c.913C>A (p.Arg305=) c.19C>A (p.Arg7=) c.1024C>A (p.Arg342=) | dbSNP gnomAD v2 |
12 | g.112477950C= | CA2063775969 | PTPN11 | c.1027C= (p.Arg343=) c.913C= (p.Arg305=) c.19C= (p.Arg7=) c.1024C= (p.Arg342=) | |
12 | g.112477950C>G | CA386791484 | PTPN11 | c.1027C>G (p.Arg343Gly) c.913C>G (p.Arg305Gly) c.19C>G (p.Arg7Gly) c.1024C>G (p.Arg342Gly) | |
12 | g.112477950C>T | CA386791486 | PTPN11 | c.1027C>T (p.Arg343Trp) c.913C>T (p.Arg305Trp) c.19C>T (p.Arg7Trp) c.1024C>T (p.Arg342Trp) | ClinVar dbSNP gnomAD v4 |
12 | g.112477951G>A | CA297648 | PTPN11 | c.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 |
12 | g.112477951G>C | CA386791489 | PTPN11 | c.1028G>C (p.Arg343Pro) c.914G>C (p.Arg305Pro) c.20G>C (p.Arg7Pro) c.1025G>C (p.Arg342Pro) | |
12 | g.112477951G= | CA2063775970 | PTPN11 | c.1028G= (p.Arg343=) c.914G= (p.Arg305=) c.20G= (p.Arg7=) c.1025G= (p.Arg342=) | |
12 | g.112477951G>T | CA386791490 | PTPN11 | c.1028G>T (p.Arg343Leu) c.914G>T (p.Arg305Leu) c.20G>T (p.Arg7Leu) c.1025G>T (p.Arg342Leu) | gnomAD v4 |
12 | g.112477952G>A | CA481887988 | PTPN11 | c.1029G>A (p.Arg343=) c.915G>A (p.Arg305=) c.21G>A (p.Arg7=) c.1026G>A (p.Arg342=) | |
12 | g.112477952G>C | CA481887989 | PTPN11 | c.1029G>C (p.Arg343=) c.915G>C (p.Arg305=) c.21G>C (p.Arg7=) c.1026G>C (p.Arg342=) | |
12 | g.112477952G>T | CA481887991 | PTPN11 | c.1029G>T (p.Arg343=) c.915G>T (p.Arg305=) c.21G>T (p.Arg7=) c.1026G>T (p.Arg342=) | |
12 | g.112477953A>C | CA386791492 | PTPN11 | c.1030A>C (p.Met344Leu) c.916A>C (p.Met306Leu) c.22A>C (p.Met8Leu) c.1027A>C (p.Met343Leu) | dbSNP |
12 | g.112477953A>G | CA386791493 | PTPN11 | c.1030A>G (p.Met344Val) c.916A>G (p.Met306Val) c.22A>G (p.Met8Val) c.1027A>G (p.Met343Val) | dbSNP |
12 | g.112477953A>T | CA386791495 | PTPN11 | c.1030A>T (p.Met344Leu) c.916A>T (p.Met306Leu) c.22A>T (p.Met8Leu) c.1027A>T (p.Met343Leu) | dbSNP gnomAD v4 |
12 | g.112477954T>A | CA386791497 | PTPN11 | c.1031T>A (p.Met344Lys) c.917T>A (p.Met306Lys) c.23T>A (p.Met8Lys) c.1028T>A (p.Met343Lys) | |
12 | g.112477954T>C | CA386791499 | PTPN11 | c.1031T>C (p.Met344Thr) c.917T>C (p.Met306Thr) c.23T>C (p.Met8Thr) c.1028T>C (p.Met343Thr) | |
12 | g.112477954T>G | CA386791500 | PTPN11 | c.1031T>G (p.Met344Arg) c.917T>G (p.Met306Arg) c.23T>G (p.Met8Arg) c.1028T>G (p.Met343Arg) | |
12 | g.112477955G>A | CA386791503 | PTPN11 | c.1032G>A (p.Met344Ile) c.918G>A (p.Met306Ile) c.24G>A (p.Met8Ile) c.1029G>A (p.Met343Ile) | ClinVar dbSNP |
12 | g.112477955G>C | CA386791504 | PTPN11 | c.1032G>C (p.Met344Ile) c.918G>C (p.Met306Ile) c.24G>C (p.Met8Ile) c.1029G>C (p.Met343Ile) | |
12 | g.112477955G= | CA2063775971 | PTPN11 | c.1032G= (p.Met344=) c.918G= (p.Met306=) c.24G= (p.Met8=) c.1029G= (p.Met343=) | |
12 | g.112477955G>T | CA386791506 | PTPN11 | c.1032G>T (p.Met344Ile) c.918G>T (p.Met306Ile) c.24G>T (p.Met8Ile) c.1029G>T (p.Met343Ile) | |
12 | g.112477956G>A | CA386791508 | PTPN11 | c.1033G>A (p.Val345Met) c.919G>A (p.Val307Met) c.25G>A (p.Val9Met) c.1030G>A (p.Val344Met) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477956G>C | CA386791511 | PTPN11 | c.1033G>C (p.Val345Leu) c.919G>C (p.Val307Leu) c.25G>C (p.Val9Leu) c.1030G>C (p.Val344Leu) | |
12 | g.112477956G= | CA2063775972 | PTPN11 | c.1033G= (p.Val345=) c.919G= (p.Val307=) c.25G= (p.Val9=) c.1030G= (p.Val344=) | |
12 | g.112477956G>T | CA386791510 | PTPN11 | c.1033G>T (p.Val345Leu) c.919G>T (p.Val307Leu) c.25G>T (p.Val9Leu) c.1030G>T (p.Val344Leu) | |
12 | g.112477957T>A | CA386791514 | PTPN11 | c.1034T>A (p.Val345Glu) c.920T>A (p.Val307Glu) c.26T>A (p.Val9Glu) c.1031T>A (p.Val344Glu) | |
12 | g.112477957T>C | CA386791515 | PTPN11 | c.1034T>C (p.Val345Ala) c.920T>C (p.Val307Ala) c.26T>C (p.Val9Ala) c.1031T>C (p.Val344Ala) | |
12 | g.112477957T>G | CA386791517 | PTPN11 | c.1034T>G (p.Val345Gly) c.920T>G (p.Val307Gly) c.26T>G (p.Val9Gly) c.1031T>G (p.Val344Gly) | |
12 | g.112477958G>A | CA481888001 | PTPN11 | c.1035G>A (p.Val345=) c.921G>A (p.Val307=) c.27G>A (p.Val9=) c.1032G>A (p.Val344=) | dbSNP |
12 | g.112477958G>C | CA481888003 | PTPN11 | c.1035G>C (p.Val345=) c.921G>C (p.Val307=) c.27G>C (p.Val9=) c.1032G>C (p.Val344=) | gnomAD v4 |
12 | g.112477958G>T | CA481888004 | PTPN11 | c.1035G>T (p.Val345=) c.921G>T (p.Val307=) c.27G>T (p.Val9=) c.1032G>T (p.Val344=) | |
12 | g.112477959T>A | CA386791519 | PTPN11 | c.1036T>A (p.Phe346Ile) c.922T>A (p.Phe308Ile) c.28T>A (p.Phe10Ile) c.1033T>A (p.Phe345Ile) | |
12 | g.112477959T>C | CA386791521 | PTPN11 | c.1036T>C (p.Phe346Leu) c.922T>C (p.Phe308Leu) c.28T>C (p.Phe10Leu) c.1033T>C (p.Phe345Leu) | |
12 | g.112477959T>G | CA386791522 | PTPN11 | c.1036T>G (p.Phe346Val) c.922T>G (p.Phe308Val) c.28T>G (p.Phe10Val) c.1033T>G (p.Phe345Val) | |
12 | g.112477960T>A | CA386791524 | PTPN11 | c.1037T>A (p.Phe346Tyr) c.923T>A (p.Phe308Tyr) c.29T>A (p.Phe10Tyr) c.1034T>A (p.Phe345Tyr) | |
12 | g.112477960T>C | CA386791526 | PTPN11 | c.1037T>C (p.Phe346Ser) c.923T>C (p.Phe308Ser) c.29T>C (p.Phe10Ser) c.1034T>C (p.Phe345Ser) | |
12 | g.112477960T>G | CA386791527 | PTPN11 | c.1037T>G (p.Phe346Cys) c.923T>G (p.Phe308Cys) c.29T>G (p.Phe10Cys) c.1034T>G (p.Phe345Cys) | |
12 | g.112477961C>A | CA386791529 | PTPN11 | c.1038C>A (p.Phe346Leu) c.924C>A (p.Phe308Leu) c.30C>A (p.Phe10Leu) c.1035C>A (p.Phe345Leu) | |
12 | g.112477961C>G | CA386791531 | PTPN11 | c.1038C>G (p.Phe346Leu) c.924C>G (p.Phe308Leu) c.30C>G (p.Phe10Leu) c.1035C>G (p.Phe345Leu) | |
12 | g.112477961C>T | CA481888008 | PTPN11 | c.1038C>T (p.Phe346=) c.924C>T (p.Phe308=) c.30C>T (p.Phe10=) c.1035C>T (p.Phe345=) | |
12 | g.112477962C>A | CA386791536 | PTPN11 | c.1039C>A (p.Gln347Lys) c.925C>A (p.Gln309Lys) c.31C>A (p.Gln11Lys) c.1036C>A (p.Gln346Lys) | ClinVar dbSNP |
12 | g.112477962C= | CA2063775973 | PTPN11 | c.1039C= (p.Gln347=) c.925C= (p.Gln309=) c.31C= (p.Gln11=) c.1036C= (p.Gln346=) | |
12 | g.112477962C>G | CA386791535 | PTPN11 | c.1039C>G (p.Gln347Glu) c.925C>G (p.Gln309Glu) c.31C>G (p.Gln11Glu) c.1036C>G (p.Gln346Glu) | |
12 | g.112477962C>T | CA386791533 | PTPN11 | c.1039C>T (p.Gln347Ter) c.925C>T (p.Gln309Ter) c.31C>T (p.Gln11Ter) c.1036C>T (p.Gln346Ter) | |
12 | g.112477963A= | CA2063775974 | PTPN11 | c.1040A= (p.Gln347=) c.926A= (p.Gln309=) c.32A= (p.Gln11=) c.1037A= (p.Gln346=) | |
12 | g.112477963A>C | CA386791538 | PTPN11 | c.1040A>C (p.Gln347Pro) c.926A>C (p.Gln309Pro) c.32A>C (p.Gln11Pro) c.1037A>C (p.Gln346Pro) | |
12 | g.112477963A>G | CA386791539 | PTPN11 | c.1040A>G (p.Gln347Arg) c.926A>G (p.Gln309Arg) c.32A>G (p.Gln11Arg) c.1037A>G (p.Gln346Arg) | ClinVar dbSNP |
12 | g.112477963A>T | CA386791541 | PTPN11 | c.1040A>T (p.Gln347Leu) c.926A>T (p.Gln309Leu) c.32A>T (p.Gln11Leu) c.1037A>T (p.Gln346Leu) | |
12 | g.112477964A= | CA2063775975 | PTPN11 | c.1041A= (p.Gln347=) c.927A= (p.Gln309=) c.33A= (p.Gln11=) c.1038A= (p.Gln346=) | |
12 | g.112477964A>C | CA386791544 | PTPN11 | c.1041A>C (p.Gln347His) c.927A>C (p.Gln309His) c.33A>C (p.Gln11His) c.1038A>C (p.Gln346His) | |
12 | g.112477964A>G | CA6798702 | PTPN11 | c.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 |
12 | g.112477964A>T | CA386791545 | PTPN11 | c.1041A>T (p.Gln347His) c.927A>T (p.Gln309His) c.33A>T (p.Gln11His) c.1038A>T (p.Gln346His) | |
12 | g.112477965G>A | CA386791547 | PTPN11 | c.1042G>A (p.Glu348Lys) c.928G>A (p.Glu310Lys) c.34G>A (p.Glu12Lys) c.1039G>A (p.Glu347Lys) | |
12 | g.112477965G>C | CA386791549 | PTPN11 | c.1042G>C (p.Glu348Gln) c.928G>C (p.Glu310Gln) c.34G>C (p.Glu12Gln) c.1039G>C (p.Glu347Gln) | |
12 | g.112477965G>T | CA386791550 | PTPN11 | c.1042G>T (p.Glu348Ter) c.928G>T (p.Glu310Ter) c.34G>T (p.Glu12Ter) c.1039G>T (p.Glu347Ter) | |
12 | g.112477966A= | CA2063775976 | PTPN11 | c.1043A= (p.Glu348=) c.929A= (p.Glu310=) c.35A= (p.Glu12=) c.1040A= (p.Glu347=) | |
12 | g.112477966A>C | CA386791552 | PTPN11 | c.1043A>C (p.Glu348Ala) c.929A>C (p.Glu310Ala) c.35A>C (p.Glu12Ala) c.1040A>C (p.Glu347Ala) | |
12 | g.112477966A>G | CA386791554 | PTPN11 | c.1043A>G (p.Glu348Gly) c.929A>G (p.Glu310Gly) c.35A>G (p.Glu12Gly) c.1040A>G (p.Glu347Gly) | gnomAD v4 |
12 | g.112477966A>T | CA386791556 | PTPN11 | c.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 |
12 | g.112477967A>C | CA386791560 | PTPN11 | c.1044A>C (p.Glu348Asp) c.930A>C (p.Glu310Asp) c.36A>C (p.Glu12Asp) c.1041A>C (p.Glu347Asp) | |
12 | g.112477967A>G | CA481888013 | PTPN11 | c.1044A>G (p.Glu348=) c.930A>G (p.Glu310=) c.36A>G (p.Glu12=) c.1041A>G (p.Glu347=) | |
12 | g.112477967A>T | CA386791558 | PTPN11 | c.1044A>T (p.Glu348Asp) c.930A>T (p.Glu310Asp) c.36A>T (p.Glu12Asp) c.1041A>T (p.Glu347Asp) | |
12 | g.112477968A= | CA2063775977 | PTPN11 | c.1045A= (p.Asn349=) c.931A= (p.Asn311=) c.37A= (p.Asn13=) c.1042A= (p.Asn348=) | |
12 | g.112477968A>C | CA386791562 | PTPN11 | c.1045A>C (p.Asn349His) c.931A>C (p.Asn311His) c.37A>C (p.Asn13His) c.1042A>C (p.Asn348His) | |
12 | g.112477968A>G | CA243712035 | PTPN11 | c.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 |
12 | g.112477968A>T | CA386791564 | PTPN11 | c.1045A>T (p.Asn349Tyr) c.931A>T (p.Asn311Tyr) c.37A>T (p.Asn13Tyr) c.1042A>T (p.Asn348Tyr) | |
12 | g.112477969A>C | CA386791566 | PTPN11 | c.1046A>C (p.Asn349Thr) c.932A>C (p.Asn311Thr) c.38A>C (p.Asn13Thr) c.1043A>C (p.Asn348Thr) | |
12 | g.112477969A>G | CA386791568 | PTPN11 | c.1046A>G (p.Asn349Ser) c.932A>G (p.Asn311Ser) c.38A>G (p.Asn13Ser) c.1043A>G (p.Asn348Ser) | |
12 | g.112477969A>T | CA386791588 | PTPN11 | c.1046A>T (p.Asn349Ile) c.932A>T (p.Asn311Ile) c.38A>T (p.Asn13Ile) c.1043A>T (p.Asn348Ile) | |
12 | g.112477970C>A | CA386791590 | PTPN11 | c.1047C>A (p.Asn349Lys) c.933C>A (p.Asn311Lys) c.39C>A (p.Asn13Lys) c.1044C>A (p.Asn348Lys) | |
12 | g.112477970C= | CA2063775978 | PTPN11 | c.1047C= (p.Asn349=) c.933C= (p.Asn311=) c.39C= (p.Asn13=) c.1044C= (p.Asn348=) | |
12 | g.112477970C>G | CA386791591 | PTPN11 | c.1047C>G (p.Asn349Lys) c.933C>G (p.Asn311Lys) c.39C>G (p.Asn13Lys) c.1044C>G (p.Asn348Lys) | |
12 | g.112477970C>T | CA481888023 | PTPN11 | c.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 |
12 | g.112477971T>A | CA386791593 | PTPN11 | c.1048T>A (p.Ser350Thr) c.934T>A (p.Ser312Thr) c.40T>A (p.Ser14Thr) c.1045T>A (p.Ser349Thr) | |
12 | g.112477971T>C | CA386791596 | PTPN11 | c.1048T>C (p.Ser350Pro) c.934T>C (p.Ser312Pro) c.40T>C (p.Ser14Pro) c.1045T>C (p.Ser349Pro) | |
12 | g.112477971T>G | CA282111 | PTPN11 | c.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 |
12 | g.112477971T= | CA2063775979 | PTPN11 | c.1048T= (p.Ser350=) c.934T= (p.Ser312=) c.40T= (p.Ser14=) c.1045T= (p.Ser349=) | |
12 | g.112477972C>A | CA386791599 | PTPN11 | c.1049C>A (p.Ser350Tyr) c.935C>A (p.Ser312Tyr) c.41C>A (p.Ser14Tyr) c.1046C>A (p.Ser349Tyr) | ClinVar dbSNP |
12 | g.112477972C>G | CA386791603 | PTPN11 | c.1049C>G (p.Ser350Cys) c.935C>G (p.Ser312Cys) c.41C>G (p.Ser14Cys) c.1046C>G (p.Ser349Cys) | |
12 | g.112477972C>T | CA386791604 | PTPN11 | c.1049C>T (p.Ser350Phe) c.935C>T (p.Ser312Phe) c.41C>T (p.Ser14Phe) c.1046C>T (p.Ser349Phe) | |
12 | g.112477973C>A | CA481888030 | PTPN11 | c.1050C>A (p.Ser350=) c.936C>A (p.Ser312=) c.42C>A (p.Ser14=) c.1047C>A (p.Ser349=) | |
12 | g.112477973C>G | CA481888031 | PTPN11 | c.1050C>G (p.Ser350=) c.936C>G (p.Ser312=) c.42C>G (p.Ser14=) c.1047C>G (p.Ser349=) | |
12 | g.112477973C>T | CA481888032 | PTPN11 | c.1050C>T (p.Ser350=) c.936C>T (p.Ser312=) c.42C>T (p.Ser14=) c.1047C>T (p.Ser349=) | gnomAD v4 |
12 | g.112477974C>A | CA481888036 | PTPN11 | c.1051C>A (p.Arg351=) c.937C>A (p.Arg313=) c.43C>A (p.Arg15=) c.1048C>A (p.Arg350=) | dbSNP |
12 | g.112477974C= | CA2063775980 | PTPN11 | c.1051C= (p.Arg351=) c.937C= (p.Arg313=) c.43C= (p.Arg15=) c.1048C= (p.Arg350=) | |
12 | g.112477974C>G | CA386791607 | PTPN11 | c.1051C>G (p.Arg351Gly) c.937C>G (p.Arg313Gly) c.43C>G (p.Arg15Gly) c.1048C>G (p.Arg350Gly) | |
12 | g.112477974C>T | CA16042873 | PTPN11 | c.1051C>T (p.Arg351Ter) c.937C>T (p.Arg313Ter) c.43C>T (p.Arg15Ter) c.1048C>T (p.Arg350Ter) | ClinVar dbSNP gnomAD v4 |
12 | g.112477975G>A | CA282114 | PTPN11 | c.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 |
12 | g.112477975G>C | CA386791609 | PTPN11 | c.1052G>C (p.Arg351Pro) c.938G>C (p.Arg313Pro) c.44G>C (p.Arg15Pro) c.1049G>C (p.Arg350Pro) | dbSNP gnomAD v4 |
12 | g.112477975G= | CA2063775981 | PTPN11 | c.1052G= (p.Arg351=) c.938G= (p.Arg313=) c.44G= (p.Arg15=) c.1049G= (p.Arg350=) | |
12 | g.112477975G>T | CA386791608 | PTPN11 | c.1052G>T (p.Arg351Leu) c.938G>T (p.Arg313Leu) c.44G>T (p.Arg15Leu) c.1049G>T (p.Arg350Leu) | dbSNP |
12 | g.112477976A= | CA2063775982 | PTPN11 | c.1053A= (p.Arg351=) c.939A= (p.Arg313=) c.45A= (p.Arg15=) c.1050A= (p.Arg350=) | |
12 | g.112477976A>C | CA481888039 | PTPN11 | c.1053A>C (p.Arg351=) c.939A>C (p.Arg313=) c.45A>C (p.Arg15=) c.1050A>C (p.Arg350=) | gnomAD v4 |
12 | g.112477976A>G | CA243712046 | PTPN11 | c.1053A>G (p.Arg351=) c.939A>G (p.Arg313=) c.45A>G (p.Arg15=) c.1050A>G (p.Arg350=) | dbSNP gnomAD v4 |
12 | g.112477976A>T | CA481888038 | PTPN11 | c.1053A>T (p.Arg351=) c.939A>T (p.Arg313=) c.45A>T (p.Arg15=) c.1050A>T (p.Arg350=) | |
12 | g.112477977G>A | CA386791613 | PTPN11 | c.1054G>A (p.Val352Met) c.940G>A (p.Val314Met) c.46G>A (p.Val16Met) c.1051G>A (p.Val351Met) | |
12 | g.112477977G>C | CA6798703 | PTPN11 | c.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 |
12 | g.112477977G= | CA2063775983 | PTPN11 | c.1054G= (p.Val352=) c.940G= (p.Val314=) c.46G= (p.Val16=) c.1051G= (p.Val351=) | |
12 | g.112477977G>T | CA386791616 | PTPN11 | c.1054G>T (p.Val352Leu) c.940G>T (p.Val314Leu) c.46G>T (p.Val16Leu) c.1051G>T (p.Val351Leu) | |
12 | g.112477978T>A | CA386791618 | PTPN11 | c.1055T>A (p.Val352Glu) c.941T>A (p.Val314Glu) c.47T>A (p.Val16Glu) c.1052T>A (p.Val351Glu) | |
12 | g.112477978T>C | CA386791620 | PTPN11 | c.1055T>C (p.Val352Ala) c.941T>C (p.Val314Ala) c.47T>C (p.Val16Ala) c.1052T>C (p.Val351Ala) | |
12 | g.112477978T>G | CA386791622 | PTPN11 | c.1055T>G (p.Val352Gly) c.941T>G (p.Val314Gly) c.47T>G (p.Val16Gly) c.1052T>G (p.Val351Gly) | |
12 | g.112477979G>A | CA481888044 | PTPN11 | c.1056G>A (p.Val352=) c.942G>A (p.Val314=) c.48G>A (p.Val16=) c.1053G>A (p.Val351=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477979G>C | CA481888045 | PTPN11 | c.1056G>C (p.Val352=) c.942G>C (p.Val314=) c.48G>C (p.Val16=) c.1053G>C (p.Val351=) | |
12 | g.112477979G= | CA2063775984 | PTPN11 | c.1056G= (p.Val352=) c.942G= (p.Val314=) c.48G= (p.Val16=) c.1053G= (p.Val351=) | |
12 | g.112477979G>T | CA481888046 | PTPN11 | c.1056G>T (p.Val352=) c.942G>T (p.Val314=) c.48G>T (p.Val16=) c.1053G>T (p.Val351=) | |
12 | g.112477980A= | CA2063775985 | PTPN11 | c.1057A= (p.Ile353=) c.943A= (p.Ile315=) c.49A= (p.Ile17=) c.1054A= (p.Ile352=) | |
12 | g.112477980A>C | CA6798704 | PTPN11 | c.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 |
12 | g.112477980A>G | CA386791625 | PTPN11 | c.1057A>G (p.Ile353Val) c.943A>G (p.Ile315Val) c.49A>G (p.Ile17Val) c.1054A>G (p.Ile352Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477980A>T | CA386791626 | PTPN11 | c.1057A>T (p.Ile353Phe) c.943A>T (p.Ile315Phe) c.49A>T (p.Ile17Phe) c.1054A>T (p.Ile352Phe) | |
12 | g.112477981T>A | CA386791630 | PTPN11 | c.1058T>A (p.Ile353Asn) c.944T>A (p.Ile315Asn) c.50T>A (p.Ile17Asn) c.1055T>A (p.Ile352Asn) | |
12 | g.112477981T>C | CA386791631 | PTPN11 | c.1058T>C (p.Ile353Thr) c.944T>C (p.Ile315Thr) c.50T>C (p.Ile17Thr) c.1055T>C (p.Ile352Thr) | |
12 | g.112477981T>G | CA386791628 | PTPN11 | c.1058T>G (p.Ile353Ser) c.944T>G (p.Ile315Ser) c.50T>G (p.Ile17Ser) c.1055T>G (p.Ile352Ser) | |
12 | g.112477982T>A | CA481888048 | PTPN11 | c.1059T>A (p.Ile353=) c.945T>A (p.Ile315=) c.51T>A (p.Ile17=) c.1056T>A (p.Ile352=) | |
12 | g.112477982T>C | CA481888047 | PTPN11 | c.1059T>C (p.Ile353=) c.945T>C (p.Ile315=) c.51T>C (p.Ile17=) c.1056T>C (p.Ile352=) | |
12 | g.112477982T>G | CA386791633 | PTPN11 | c.1059T>G (p.Ile353Met) c.945T>G (p.Ile315Met) c.51T>G (p.Ile17Met) c.1056T>G (p.Ile352Met) | |
12 | g.112477983G>A | CA386791637 | PTPN11 | c.1060G>A (p.Val354Ile) c.946G>A (p.Val316Ile) c.52G>A (p.Val18Ile) c.1057G>A (p.Val353Ile) | |
12 | g.112477983G>C | CA386791638 | PTPN11 | c.1060G>C (p.Val354Leu) c.946G>C (p.Val316Leu) c.52G>C (p.Val18Leu) c.1057G>C (p.Val353Leu) | |
12 | g.112477983G>T | CA386791640 | PTPN11 | c.1060G>T (p.Val354Phe) c.946G>T (p.Val316Phe) c.52G>T (p.Val18Phe) c.1057G>T (p.Val353Phe) | |
12 | g.112477984T>A | CA386791642 | PTPN11 | c.1061T>A (p.Val354Asp) c.947T>A (p.Val316Asp) c.53T>A (p.Val18Asp) c.1058T>A (p.Val353Asp) | |
12 | g.112477984T>C | CA386791644 | PTPN11 | c.1061T>C (p.Val354Ala) c.947T>C (p.Val316Ala) c.53T>C (p.Val18Ala) c.1058T>C (p.Val353Ala) | |
12 | g.112477984T>G | CA386791645 | PTPN11 | c.1061T>G (p.Val354Gly) c.947T>G (p.Val316Gly) c.53T>G (p.Val18Gly) c.1058T>G (p.Val353Gly) | |
12 | g.112477985C>A | CA481888049 | PTPN11 | c.1062C>A (p.Val354=) c.948C>A (p.Val316=) c.54C>A (p.Val18=) c.1059C>A (p.Val353=) | dbSNP |
12 | g.112477985C= | CA2063775986 | PTPN11 | c.1062C= (p.Val354=) c.948C= (p.Val316=) c.54C= (p.Val18=) c.1059C= (p.Val353=) | |
12 | g.112477985C>G | CA481888050 | PTPN11 | c.1062C>G (p.Val354=) c.948C>G (p.Val316=) c.54C>G (p.Val18=) c.1059C>G (p.Val353=) | |
12 | g.112477985C>T | CA481888051 | PTPN11 | c.1062C>T (p.Val354=) c.948C>T (p.Val316=) c.54C>T (p.Val18=) c.1059C>T (p.Val353=) | dbSNP |
12 | g.112477986A>C | CA386791648 | PTPN11 | c.1063A>C (p.Met355Leu) c.949A>C (p.Met317Leu) c.55A>C (p.Met19Leu) c.1060A>C (p.Met354Leu) | |
12 | g.112477986A>G | CA386791649 | PTPN11 | c.1063A>G (p.Met355Val) c.949A>G (p.Met317Val) c.55A>G (p.Met19Val) c.1060A>G (p.Met354Val) | |
12 | g.112477986A>T | CA386791651 | PTPN11 | c.1063A>T (p.Met355Leu) c.949A>T (p.Met317Leu) c.55A>T (p.Met19Leu) c.1060A>T (p.Met354Leu) | |
12 | g.112477987T>A | CA386791653 | PTPN11 | c.1064T>A (p.Met355Lys) c.950T>A (p.Met317Lys) c.56T>A (p.Met19Lys) c.1061T>A (p.Met354Lys) | |
12 | g.112477987T>C | CA386791654 | PTPN11 | c.1064T>C (p.Met355Thr) c.950T>C (p.Met317Thr) c.56T>C (p.Met19Thr) c.1061T>C (p.Met354Thr) | dbSNP COSMIC |
12 | g.112477987T>G | CA386791655 | PTPN11 | c.1064T>G (p.Met355Arg) c.950T>G (p.Met317Arg) c.56T>G (p.Met19Arg) c.1061T>G (p.Met354Arg) | |
12 | g.112477987T= | CA2063775987 | PTPN11 | c.1064T= (p.Met355=) c.950T= (p.Met317=) c.56T= (p.Met19=) c.1061T= (p.Met354=) | |
12 | g.112477988G>A | CA386791659 | PTPN11 | c.1065G>A (p.Met355Ile) c.951G>A (p.Met317Ile) c.57G>A (p.Met19Ile) c.1062G>A (p.Met354Ile) | gnomAD v4 |
12 | g.112477988G>C | CA386791657 | PTPN11 | c.1065G>C (p.Met355Ile) c.951G>C (p.Met317Ile) c.57G>C (p.Met19Ile) c.1062G>C (p.Met354Ile) | |
12 | g.112477988G>T | CA386791656 | PTPN11 | c.1065G>T (p.Met355Ile) c.951G>T (p.Met317Ile) c.57G>T (p.Met19Ile) c.1062G>T (p.Met354Ile) | |
12 | g.112477989A>C | CA386791661 | PTPN11 | c.1066A>C (p.Thr356Pro) c.952A>C (p.Thr318Pro) c.58A>C (p.Thr20Pro) c.1063A>C (p.Thr355Pro) | |
12 | g.112477989A>G | CA386791663 | PTPN11 | c.1066A>G (p.Thr356Ala) c.952A>G (p.Thr318Ala) c.58A>G (p.Thr20Ala) c.1063A>G (p.Thr355Ala) | |
12 | g.112477989A>T | CA386791664 | PTPN11 | c.1066A>T (p.Thr356Ser) c.952A>T (p.Thr318Ser) c.58A>T (p.Thr20Ser) c.1063A>T (p.Thr355Ser) | |
12 | g.112477990C>A | CA386791666 | PTPN11 | c.1067C>A (p.Thr356Lys) c.953C>A (p.Thr318Lys) c.59C>A (p.Thr20Lys) c.1064C>A (p.Thr355Lys) | |
12 | g.112477990C>G | CA386791668 | PTPN11 | c.1067C>G (p.Thr356Arg) c.953C>G (p.Thr318Arg) c.59C>G (p.Thr20Arg) c.1064C>G (p.Thr355Arg) | |
12 | g.112477990C>T | CA386791669 | PTPN11 | c.1067C>T (p.Thr356Ile) c.953C>T (p.Thr318Ile) c.59C>T (p.Thr20Ile) c.1064C>T (p.Thr355Ile) |