| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112450441A>C | CA386778045 | PTPN11 | c.261A>C (p.Gln87His) c.258A>C (p.Gln86His) | |
| 12 | g.112450441A>G | CA481881842 | PTPN11 | c.261A>G (p.Gln87=) c.258A>G (p.Gln86=) | |
| 12 | g.112450441A>T | CA386778046 | PTPN11 | c.261A>T (p.Gln87His) c.258A>T (p.Gln86His) | dbSNP |
| 12 | g.112450442T>A | CA386778048 | PTPN11 | c.262T>A (p.Leu88Ile) c.259T>A (p.Leu87Ile) | dbSNP |
| 12 | g.112450442T>C | CA481881844 | PTPN11 | c.262T>C (p.Leu88=) c.259T>C (p.Leu87=) | |
| 12 | g.112450442T>G | CA386778050 | PTPN11 | c.262T>G (p.Leu88Val) c.259T>G (p.Leu87Val) | |
| 12 | g.112450443T>A | CA386778056 | PTPN11 | c.263T>A (p.Leu88Ter) c.260T>A (p.Leu87Ter) | |
| 12 | g.112450443T>C | CA386778060 | PTPN11 | c.263T>C (p.Leu88Ser) c.260T>C (p.Leu87Ser) | |
| 12 | g.112450443T>G | CA386778058 | PTPN11 | c.263T>G (p.Leu88Ter) c.260T>G (p.Leu87Ter) | |
| 12 | g.112450444A>C | CA386778062 | PTPN11 | c.264A>C (p.Leu88Phe) c.261A>C (p.Leu87Phe) | |
| 12 | g.112450444A>G | CA481881846 | PTPN11 | c.264A>G (p.Leu88=) c.261A>G (p.Leu87=) | gnomAD v4 |
| 12 | g.112450444A>T | CA386778063 | PTPN11 | c.264A>T (p.Leu88Phe) c.261A>T (p.Leu87Phe) | dbSNP |
| 12 | g.112450445_112450449del | CA913187378 | PTPN11 | c.265_269del (p.Lys89GlufsTer7) c.262_266del (p.Lys88GlufsTer7) | ClinVar |
| 12 | g.112450445A>C | CA386778065 | PTPN11 | c.265A>C (p.Lys89Gln) c.262A>C (p.Lys88Gln) | |
| 12 | g.112450445A>G | CA386778067 | PTPN11 | c.265A>G (p.Lys89Glu) c.262A>G (p.Lys88Glu) | |
| 12 | g.112450445A>T | CA386778070 | PTPN11 | c.265A>T (p.Lys89Ter) c.262A>T (p.Lys88Ter) | dbSNP |
| 12 | g.112450446A>C | CA386778077 | PTPN11 | c.266A>C (p.Lys89Thr) c.263A>C (p.Lys88Thr) | |
| 12 | g.112450446A>G | CA386778080 | PTPN11 | c.266A>G (p.Lys89Arg) c.263A>G (p.Lys88Arg) | |
| 12 | g.112450446A>T | CA386778073 | PTPN11 | c.266A>T (p.Lys89Ile) c.263A>T (p.Lys88Ile) | dbSNP |
| 12 | g.112450447A>C | CA386778087 | PTPN11 | c.267A>C (p.Lys89Asn) c.264A>C (p.Lys88Asn) | |
| 12 | g.112450447A>G | CA481881851 | PTPN11 | c.267A>G (p.Lys89=) c.264A>G (p.Lys88=) | dbSNP |
| 12 | g.112450447A>T | CA386778084 | PTPN11 | c.267A>T (p.Lys89Asn) c.264A>T (p.Lys88Asn) | |
| 12 | g.112450448G>A | CA386778095 | PTPN11 | c.268G>A (p.Glu90Lys) c.265G>A (p.Glu89Lys) | dbSNP |
| 12 | g.112450448G>C | CA386778091 | PTPN11 | c.268G>C (p.Glu90Gln) c.265G>C (p.Glu89Gln) | dbSNP |
| 12 | g.112450448G>T | CA386778093 | PTPN11 | c.268G>T (p.Glu90Ter) c.265G>T (p.Glu89Ter) | |
| 12 | g.112450449A>C | CA386778098 | PTPN11 | c.269A>C (p.Glu90Ala) c.266A>C (p.Glu89Ala) | |
| 12 | g.112450449A>G | CA386778101 | PTPN11 | c.269A>G (p.Glu90Gly) c.266A>G (p.Glu89Gly) | |
| 12 | g.112450449A>T | CA386778104 | PTPN11 | c.269A>T (p.Glu90Val) c.266A>T (p.Glu89Val) | dbSNP |
| 12 | g.112450450G>A | CA481881853 | PTPN11 | c.270G>A (p.Glu90=) c.267G>A (p.Glu89=) | dbSNP |
| 12 | g.112450450G>C | CA386778108 | PTPN11 | c.270G>C (p.Glu90Asp) c.267G>C (p.Glu89Asp) | dbSNP |
| 12 | g.112450450G>T | CA386778109 | PTPN11 | c.270G>T (p.Glu90Asp) c.267G>T (p.Glu89Asp) | |
| 12 | g.112450451A>C | CA386778111 | PTPN11 | c.271A>C (p.Lys91Gln) c.268A>C (p.Lys90Gln) | |
| 12 | g.112450451A>G | CA386778122 | PTPN11 | c.271A>G (p.Lys91Glu) c.268A>G (p.Lys90Glu) | |
| 12 | g.112450451A>T | CA386778126 | PTPN11 | c.271A>T (p.Lys91Ter) c.268A>T (p.Lys90Ter) | dbSNP |
| 12 | g.112450452A= | CA2063740411 | PTPN11 | c.272A= (p.Lys91=) c.269A= (p.Lys90=) | |
| 12 | g.112450452A>C | CA386778129 | PTPN11 | c.272A>C (p.Lys91Thr) c.269A>C (p.Lys90Thr) | |
| 12 | g.112450452A>G | CA354982 | PTPN11 | c.272A>G (p.Lys91Arg) c.269A>G (p.Lys90Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112450452A>T | CA386778140 | PTPN11 | c.272A>T (p.Lys91Met) c.269A>T (p.Lys90Met) | dbSNP |
| 12 | g.112450453G>A | CA481881855 | PTPN11 | c.273G>A (p.Lys91=) c.270G>A (p.Lys90=) | dbSNP |
| 12 | g.112450453G>C | CA386778141 | PTPN11 | c.273G>C (p.Lys91Asn) c.270G>C (p.Lys90Asn) | dbSNP |
| 12 | g.112450453G>T | CA386778142 | PTPN11 | c.273G>T (p.Lys91Asn) c.270G>T (p.Lys90Asn) | |
| 12 | g.112450454A>C | CA386778143 | PTPN11 | c.274A>C (p.Asn92His) c.271A>C (p.Asn91His) | |
| 12 | g.112450454A>G | CA386778144 | PTPN11 | c.274A>G (p.Asn92Asp) c.271A>G (p.Asn91Asp) | gnomAD v4 |
| 12 | g.112450454A>T | CA386778147 | PTPN11 | c.274A>T (p.Asn92Tyr) c.271A>T (p.Asn91Tyr) | dbSNP |
| 12 | g.112450455A>C | CA386778151 | PTPN11 | c.275A>C (p.Asn92Thr) c.272A>C (p.Asn91Thr) | |
| 12 | g.112450455A>G | CA386778153 | PTPN11 | c.275A>G (p.Asn92Ser) c.272A>G (p.Asn91Ser) | |
| 12 | g.112450455A>T | CA386778158 | PTPN11 | c.275A>T (p.Asn92Ile) c.272A>T (p.Asn91Ile) | dbSNP |
| 12 | g.112450456T>A | CA386778161 | PTPN11 | c.276T>A (p.Asn92Lys) c.273T>A (p.Asn91Lys) | ClinVar dbSNP |
| 12 | g.112450456T>C | CA481881856 | PTPN11 | c.276T>C (p.Asn92=) c.273T>C (p.Asn91=) | |
| 12 | g.112450456T>G | CA386778163 | PTPN11 | c.276T>G (p.Asn92Lys) c.273T>G (p.Asn91Lys) | |
| 12 | g.112450457G>A | CA386778164 | PTPN11 | c.277G>A (p.Gly93Arg) c.274G>A (p.Gly92Arg) | dbSNP |
| 12 | g.112450457G>C | CA386778165 | PTPN11 | c.277G>C (p.Gly93Arg) c.274G>C (p.Gly92Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112450457G= | CA2063740417 | PTPN11 | c.277G= (p.Gly93=) c.274G= (p.Gly92=) | |
| 12 | g.112450457G>T | CA386778166 | PTPN11 | c.277G>T (p.Gly93Ter) c.274G>T (p.Gly92Ter) | |
| 12 | g.112450458G>A | CA386778168 | PTPN11 | c.278G>A (p.Gly93Glu) c.275G>A (p.Gly92Glu) | dbSNP |
| 12 | g.112450458G>C | CA386778169 | PTPN11 | c.278G>C (p.Gly93Ala) c.275G>C (p.Gly92Ala) | dbSNP |
| 12 | g.112450458G>T | CA386778167 | PTPN11 | c.278G>T (p.Gly93Val) c.275G>T (p.Gly92Val) | dbSNP |
| 12 | g.112450459A>C | CA481881858 | PTPN11 | c.279A>C (p.Gly93=) c.276A>C (p.Gly92=) | |
| 12 | g.112450459A>G | CA481881859 | PTPN11 | c.279A>G (p.Gly93=) c.276A>G (p.Gly92=) | |
| 12 | g.112450459A>T | CA481881860 | PTPN11 | c.279A>T (p.Gly93=) c.276A>T (p.Gly92=) | ClinVar dbSNP |
| 12 | g.112450460G>A | CA386778173 | PTPN11 | c.280G>A (p.Asp94Asn) c.277G>A (p.Asp93Asn) | dbSNP |
| 12 | g.112450460G>C | CA386778176 | PTPN11 | c.280G>C (p.Asp94His) c.277G>C (p.Asp93His) | dbSNP |
| 12 | g.112450460G>T | CA386778180 | PTPN11 | c.280G>T (p.Asp94Tyr) c.277G>T (p.Asp93Tyr) | dbSNP |
| 12 | g.112450461A>C | CA386778187 | PTPN11 | c.281A>C (p.Asp94Ala) c.278A>C (p.Asp93Ala) | |
| 12 | g.112450461A>G | CA386778190 | PTPN11 | c.281A>G (p.Asp94Gly) c.278A>G (p.Asp93Gly) | ClinVar dbSNP |
| 12 | g.112450461A>T | CA386778196 | PTPN11 | c.281A>T (p.Asp94Val) c.278A>T (p.Asp93Val) | ClinVar dbSNP |
| 12 | g.112450462T>A | CA386778201 | PTPN11 | c.282T>A (p.Asp94Glu) c.279T>A (p.Asp93Glu) | dbSNP |
| 12 | g.112450462T>C | CA481881862 | PTPN11 | c.282T>C (p.Asp94=) c.279T>C (p.Asp93=) | dbSNP |
| 12 | g.112450462T>G | CA386778199 | PTPN11 | c.282T>G (p.Asp94Glu) c.279T>G (p.Asp93Glu) | |
| 12 | g.112450463G>A | CA386778206 | PTPN11 | c.283G>A (p.Val95Ile) c.280G>A (p.Val94Ile) | ClinVar dbSNP |
| 12 | g.112450463G>C | CA386778207 | PTPN11 | c.283G>C (p.Val95Leu) c.280G>C (p.Val94Leu) | dbSNP |
| 12 | g.112450463G>T | CA386778210 | PTPN11 | c.283G>T (p.Val95Phe) c.280G>T (p.Val94Phe) | gnomAD v4 |
| 12 | g.112450464T>A | CA386778211 | PTPN11 | c.284T>A (p.Val95Asp) c.281T>A (p.Val94Asp) | dbSNP |
| 12 | g.112450464T>C | CA386778212 | PTPN11 | c.284T>C (p.Val95Ala) c.281T>C (p.Val94Ala) | |
| 12 | g.112450464T>G | CA386778213 | PTPN11 | c.284T>G (p.Val95Gly) c.281T>G (p.Val94Gly) | dbSNP |
| 12 | g.112450465C>A | CA481881864 | PTPN11 | c.285C>A (p.Val95=) c.282C>A (p.Val94=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450465C>G | CA481881866 | PTPN11 | c.285C>G (p.Val95=) c.282C>G (p.Val94=) | dbSNP |
| 12 | g.112450465C>T | CA481881868 | PTPN11 | c.285C>T (p.Val95=) c.282C>T (p.Val94=) | dbSNP gnomAD v4 |
| 12 | g.112450466A>C | CA386778216 | PTPN11 | c.286A>C (p.Ile96Leu) c.283A>C (p.Ile95Leu) | |
| 12 | g.112450466A>G | CA386778224 | PTPN11 | c.286A>G (p.Ile96Val) c.283A>G (p.Ile95Val) | |
| 12 | g.112450466A>T | CA386778218 | PTPN11 | c.286A>T (p.Ile96Phe) c.283A>T (p.Ile95Phe) | |
| 12 | g.112450467T>A | CA386778226 | PTPN11 | c.287T>A (p.Ile96Asn) c.284T>A (p.Ile95Asn) | |
| 12 | g.112450467T>C | CA386778229 | PTPN11 | c.287T>C (p.Ile96Thr) c.284T>C (p.Ile95Thr) | dbSNP gnomAD v4 |
| 12 | g.112450467T>G | CA386778231 | PTPN11 | c.287T>G (p.Ile96Ser) c.284T>G (p.Ile95Ser) | dbSNP |
| 12 | g.112450468T>A | CA481881870 | PTPN11 | c.288T>A (p.Ile96=) c.285T>A (p.Ile95=) | dbSNP |
| 12 | g.112450468T>C | CA243707923 | PTPN11 | c.288T>C (p.Ile96=) c.285T>C (p.Ile95=) | dbSNP |
| 12 | g.112450468T>G | CA386778233 | PTPN11 | c.288T>G (p.Ile96Met) c.285T>G (p.Ile95Met) | gnomAD v4 |
| 12 | g.112450468T= | CA2063740420 | PTPN11 | c.288T= (p.Ile96=) c.285T= (p.Ile95=) | |
| 12 | g.112450469G>A | CA386778236 | PTPN11 | c.289G>A (p.Glu97Lys) c.286G>A (p.Glu96Lys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450469G>C | CA282082 | PTPN11 | c.289G>C (p.Glu97Gln) c.286G>C (p.Glu96Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112450469G= | CA2063740423 | PTPN11 | c.289G= (p.Glu97=) c.286G= (p.Glu96=) | |
| 12 | g.112450469G>T | CA386778241 | PTPN11 | c.289G>T (p.Glu97Ter) c.286G>T (p.Glu96Ter) | dbSNP |
| 12 | g.112450470A>C | CA386778249 | PTPN11 | c.290A>C (p.Glu97Ala) c.287A>C (p.Glu96Ala) | |
| 12 | g.112450470A>G | CA386778251 | PTPN11 | c.290A>G (p.Glu97Gly) c.287A>G (p.Glu96Gly) | |
| 12 | g.112450470A>T | CA386778253 | PTPN11 | c.290A>T (p.Glu97Val) c.287A>T (p.Glu96Val) | ClinVar dbSNP |
| 12 | g.112450471G>A | CA481881873 | PTPN11 | c.291G>A (p.Glu97=) c.288G>A (p.Glu96=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112450471G>C | CA386778255 | PTPN11 | c.291G>C (p.Glu97Asp) c.288G>C (p.Glu96Asp) | dbSNP |
| 12 | g.112450471G= | CA2063740457 | PTPN11 | c.291G= (p.Glu97=) c.288G= (p.Glu96=) | |
| 12 | g.112450471G>T | CA386778263 | PTPN11 | c.291G>T (p.Glu97Asp) c.288G>T (p.Glu96Asp) | dbSNP |
| 12 | g.112450472C>A | CA386778268 | PTPN11 | c.292C>A (p.Leu98Ile) c.289C>A (p.Leu97Ile) | |
| 12 | g.112450472C>G | CA386778267 | PTPN11 | c.292C>G (p.Leu98Val) c.289C>G (p.Leu97Val) | |
| 12 | g.112450472C>T | CA386778266 | PTPN11 | c.292C>T (p.Leu98Phe) c.289C>T (p.Leu97Phe) | COSMIC |
| 12 | g.112450473T>A | CA386778271 | PTPN11 | c.293T>A (p.Leu98His) c.290T>A (p.Leu97His) | dbSNP |
| 12 | g.112450473T>C | CA386778279 | PTPN11 | c.293T>C (p.Leu98Pro) c.290T>C (p.Leu97Pro) | dbSNP gnomAD v4 |
| 12 | g.112450473T>G | CA386778274 | PTPN11 | c.293T>G (p.Leu98Arg) c.290T>G (p.Leu97Arg) | |
| 12 | g.112450474del | CA2727234709 | PTPN11 | c.294del (p.Lys99AsnfsTer4) c.291del (p.Lys98AsnfsTer4) | dbSNP |
| 12 | g.112450474T>A | CA481881876 | PTPN11 | c.294T>A (p.Leu98=) c.291T>A (p.Leu97=) | |
| 12 | g.112450474T>C | CA481881877 | PTPN11 | c.294T>C (p.Leu98=) c.291T>C (p.Leu97=) | |
| 12 | g.112450474T>G | CA481881878 | PTPN11 | c.294T>G (p.Leu98=) c.291T>G (p.Leu97=) | ClinVar |
| 12 | g.112450475A= | CA2063740460 | PTPN11 | c.295A= (p.Lys99=) c.292A= (p.Lys98=) | |
| 12 | g.112450475A>C | CA386778282 | PTPN11 | c.295A>C (p.Lys99Gln) c.292A>C (p.Lys98Gln) | |
| 12 | g.112450475A>G | CA386778285 | PTPN11 | c.295A>G (p.Lys99Glu) c.292A>G (p.Lys98Glu) | |
| 12 | g.112450475A>T | CA129805 | PTPN11 | c.295A>T (p.Lys99Ter) c.292A>T (p.Lys98Ter) | ClinVar dbSNP |
| 12 | g.112450476A>C | CA386778288 | PTPN11 | c.296A>C (p.Lys99Thr) c.293A>C (p.Lys98Thr) | |
| 12 | g.112450476A>G | CA386778289 | PTPN11 | c.296A>G (p.Lys99Arg) c.293A>G (p.Lys98Arg) | |
| 12 | g.112450476A>T | CA386778291 | PTPN11 | c.296A>T (p.Lys99Ile) c.293A>T (p.Lys98Ile) | dbSNP |
| 12 | g.112450477A>C | CA386778292 | PTPN11 | c.297A>C (p.Lys99Asn) c.294A>C (p.Lys98Asn) | dbSNP |
| 12 | g.112450477A>G | CA481881882 | PTPN11 | c.297A>G (p.Lys99=) c.294A>G (p.Lys98=) | dbSNP gnomAD v4 |
| 12 | g.112450477A>T | CA386778295 | PTPN11 | c.297A>T (p.Lys99Asn) c.294A>T (p.Lys98Asn) | |
| 12 | g.112450478T>A | CA386778297 | PTPN11 | c.298T>A (p.Tyr100Asn) c.295T>A (p.Tyr99Asn) | dbSNP |
| 12 | g.112450478T>C | CA386778299 | PTPN11 | c.298T>C (p.Tyr100His) c.295T>C (p.Tyr99His) | |
| 12 | g.112450478T>G | CA386778302 | PTPN11 | c.298T>G (p.Tyr100Asp) c.295T>G (p.Tyr99Asp) | |
| 12 | g.112450479A>C | CA386778305 | PTPN11 | c.299A>C (p.Tyr100Ser) c.296A>C (p.Tyr99Ser) | |
| 12 | g.112450479A>G | CA386778308 | PTPN11 | c.299A>G (p.Tyr100Cys) c.296A>G (p.Tyr99Cys) | |
| 12 | g.112450479A>T | CA386778310 | PTPN11 | c.299A>T (p.Tyr100Phe) c.296A>T (p.Tyr99Phe) | dbSNP |
| 12 | g.112450480T>A | CA386778313 | PTPN11 | c.300T>A (p.Tyr100Ter) c.297T>A (p.Tyr99Ter) | |
| 12 | g.112450480T>C | CA481881886 | PTPN11 | c.300T>C (p.Tyr100=) c.297T>C (p.Tyr99=) | |
| 12 | g.112450480T>G | CA386778314 | PTPN11 | c.300T>G (p.Tyr100Ter) c.297T>G (p.Tyr99Ter) | |
| 12 | g.112450481C>A | CA386778319 | PTPN11 | c.301C>A (p.Pro101Thr) c.298C>A (p.Pro100Thr) | dbSNP |
| 12 | g.112450481C= | CA2063740464 | PTPN11 | c.301C= (p.Pro101=) c.298C= (p.Pro100=) | |
| 12 | g.112450481C>G | CA6798534 | PTPN11 | c.301C>G (p.Pro101Ala) c.298C>G (p.Pro100Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112450481C>T | CA386778322 | PTPN11 | c.301C>T (p.Pro101Ser) c.298C>T (p.Pro100Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450482C>A | CA386778325 | PTPN11 | c.302C>A (p.Pro101His) c.299C>A (p.Pro100His) | dbSNP |
| 12 | g.112450482C>G | CA386778326 | PTPN11 | c.302C>G (p.Pro101Arg) c.299C>G (p.Pro100Arg) | dbSNP gnomAD v4 |
| 12 | g.112450482C>T | CA386778329 | PTPN11 | c.302C>T (p.Pro101Leu) c.299C>T (p.Pro100Leu) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450483T>A | CA481881889 | PTPN11 | c.303T>A (p.Pro101=) c.300T>A (p.Pro100=) | dbSNP |
| 12 | g.112450483T>C | CA481881890 | PTPN11 | c.303T>C (p.Pro101=) c.300T>C (p.Pro100=) | |
| 12 | g.112450483T>G | CA481881891 | PTPN11 | c.303T>G (p.Pro101=) c.300T>G (p.Pro100=) | |
| 12 | g.112450484C>A | CA386778332 | PTPN11 | c.304C>A (p.Leu102Met) c.301C>A (p.Leu101Met) | |
| 12 | g.112450484C>G | CA386778335 | PTPN11 | c.304C>G (p.Leu102Val) c.301C>G (p.Leu101Val) | |
| 12 | g.112450484C>T | CA481881893 | PTPN11 | c.304C>T (p.Leu102=) c.301C>T (p.Leu101=) | |
| 12 | g.112450485T>A | CA386778338 | PTPN11 | c.305T>A (p.Leu102Gln) c.302T>A (p.Leu101Gln) | dbSNP |
| 12 | g.112450485T>C | CA386778341 | PTPN11 | c.305T>C (p.Leu102Pro) c.302T>C (p.Leu101Pro) | dbSNP |
| 12 | g.112450485T>G | CA386778345 | PTPN11 | c.305T>G (p.Leu102Arg) c.302T>G (p.Leu101Arg) | |
| 12 | g.112450486G>A | CA481881894 | PTPN11 | c.306G>A (p.Leu102=) c.303G>A (p.Leu101=) | dbSNP gnomAD v4 |
| 12 | g.112450486G>C | CA481881895 | PTPN11 | c.306G>C (p.Leu102=) c.303G>C (p.Leu101=) | dbSNP gnomAD v4 |
| 12 | g.112450486G>T | CA481881896 | PTPN11 | c.306G>T (p.Leu102=) c.303G>T (p.Leu101=) | dbSNP gnomAD v4 |
| 12 | g.112450487A>C | CA386778357 | PTPN11 | c.307A>C (p.Asn103His) c.304A>C (p.Asn102His) | |
| 12 | g.112450487A>G | CA386778353 | PTPN11 | c.307A>G (p.Asn103Asp) c.304A>G (p.Asn102Asp) | |
| 12 | g.112450487A>T | CA386778349 | PTPN11 | c.307A>T (p.Asn103Tyr) c.304A>T (p.Asn102Tyr) | dbSNP |
| 12 | g.112450488A>C | CA386778361 | PTPN11 | c.308A>C (p.Asn103Thr) c.305A>C (p.Asn102Thr) | |
| 12 | g.112450488A>G | CA386778364 | PTPN11 | c.308A>G (p.Asn103Ser) c.305A>G (p.Asn102Ser) | dbSNP |
| 12 | g.112450488A>T | CA386778367 | PTPN11 | c.308A>T (p.Asn103Ile) c.305A>T (p.Asn102Ile) | dbSNP |
| 12 | g.112450489C>A | CA386778369 | PTPN11 | c.309C>A (p.Asn103Lys) c.306C>A (p.Asn102Lys) | |
| 12 | g.112450489C>G | CA386778372 | PTPN11 | c.309C>G (p.Asn103Lys) c.306C>G (p.Asn102Lys) | dbSNP |
| 12 | g.112450489C>T | CA481881900 | PTPN11 | c.309C>T (p.Asn103=) c.306C>T (p.Asn102=) | dbSNP |
| 12 | g.112450490T>A | CA386778377 | PTPN11 | c.310T>A (p.Cys104Ser) c.307T>A (p.Cys103Ser) | dbSNP |
| 12 | g.112450490T>C | CA243707924 | PTPN11 | c.310T>C (p.Cys104Arg) c.307T>C (p.Cys103Arg) | dbSNP |
| 12 | g.112450490T>G | CA386778378 | PTPN11 | c.310T>G (p.Cys104Gly) c.307T>G (p.Cys103Gly) | |
| 12 | g.112450490T= | CA2063740469 | PTPN11 | c.310T= (p.Cys104=) c.307T= (p.Cys103=) | |
| 12 | g.112450491G>A | CA386778380 | PTPN11 | c.311G>A (p.Cys104Tyr) c.308G>A (p.Cys103Tyr) | gnomAD v4 |
| 12 | g.112450491G>C | CA386778382 | PTPN11 | c.311G>C (p.Cys104Ser) c.308G>C (p.Cys103Ser) | |
| 12 | g.112450491G>T | CA386778385 | PTPN11 | c.311G>T (p.Cys104Phe) c.308G>T (p.Cys103Phe) | |
| 12 | g.112450492T>A | CA386778388 | PTPN11 | c.312T>A (p.Cys104Ter) c.309T>A (p.Cys103Ter) | dbSNP |
| 12 | g.112450492T>C | CA243707925 | PTPN11 | c.312T>C (p.Cys104=) c.309T>C (p.Cys103=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112450492T>G | CA386778389 | PTPN11 | c.312T>G (p.Cys104Trp) c.309T>G (p.Cys103Trp) | dbSNP |
| 12 | g.112450492T= | CA2063740475 | PTPN11 | c.312T= (p.Cys104=) c.309T= (p.Cys103=) | |
| 12 | g.112450493G>A | CA386778395 | PTPN11 | c.313G>A (p.Ala105Thr) c.310G>A (p.Ala104Thr) | dbSNP |
| 12 | g.112450493G>C | CA386778393 | PTPN11 | c.313G>C (p.Ala105Pro) c.310G>C (p.Ala104Pro) | dbSNP |
| 12 | g.112450493G>T | CA386778394 | PTPN11 | c.313G>T (p.Ala105Ser) c.310G>T (p.Ala104Ser) | dbSNP |
| 12 | g.112450494C>A | CA386778396 | PTPN11 | c.314C>A (p.Ala105Glu) c.311C>A (p.Ala104Glu) | dbSNP |
| 12 | g.112450494C>G | CA386778400 | PTPN11 | c.314C>G (p.Ala105Gly) c.311C>G (p.Ala104Gly) | dbSNP |
| 12 | g.112450494C>T | CA386778403 | PTPN11 | c.314C>T (p.Ala105Val) c.311C>T (p.Ala104Val) | dbSNP COSMIC |
| 12 | g.112450495A= | CA2063740484 | PTPN11 | c.315A= (p.Ala105=) c.312A= (p.Ala104=) | |
| 12 | g.112450495A>C | CA481881907 | PTPN11 | c.315A>C (p.Ala105=) c.312A>C (p.Ala104=) | |
| 12 | g.112450495A>G | CA481881906 | PTPN11 | c.315A>G (p.Ala105=) c.312A>G (p.Ala104=) | |
| 12 | g.112450495A>T | CA134662 | PTPN11 | c.315A>T (p.Ala105=) c.312A>T (p.Ala104=) | ClinVar dbSNP |
| 12 | g.112450496G>A | CA386778406 | PTPN11 | c.316G>A (p.Asp106Asn) c.313G>A (p.Asp105Asn) | dbSNP |
| 12 | g.112450496G>C | CA386778408 | PTPN11 | c.316G>C (p.Asp106His) c.313G>C (p.Asp105His) | dbSNP COSMIC |
| 12 | g.112450496G>T | CA386778410 | PTPN11 | c.316G>T (p.Asp106Tyr) c.313G>T (p.Asp105Tyr) | COSMIC |
| 12 | g.112450497A= | CA2063740501 | PTPN11 | c.317A= (p.Asp106=) c.314A= (p.Asp105=) | |
| 12 | g.112450497A>C | CA261584 | PTPN11 | c.317A>C (p.Asp106Ala) c.314A>C (p.Asp105Ala) | ClinVar dbSNP |
| 12 | g.112450497A>G | CA386778413 | PTPN11 | c.317A>G (p.Asp106Gly) c.314A>G (p.Asp105Gly) | ClinVar gnomAD v4 |
| 12 | g.112450497A>T | CA386778415 | PTPN11 | c.317A>T (p.Asp106Val) c.314A>T (p.Asp105Val) | dbSNP |
| 12 | g.112450498T>A | CA386778417 | PTPN11 | c.318T>A (p.Asp106Glu) c.315T>A (p.Asp105Glu) | ClinVar dbSNP |
| 12 | g.112450498T>C | CA481881911 | PTPN11 | c.318T>C (p.Asp106=) c.315T>C (p.Asp105=) | dbSNP |
| 12 | g.112450498T>G | CA386778420 | PTPN11 | c.318T>G (p.Asp106Glu) c.315T>G (p.Asp105Glu) | |
| 12 | g.112450498T= | CA2063740509 | PTPN11 | c.318T= (p.Asp106=) c.315T= (p.Asp105=) | |
| 12 | g.112450499C>A | CA386778432 | PTPN11 | c.319C>A (p.Pro107Thr) c.316C>A (p.Pro106Thr) | dbSNP |
| 12 | g.112450499C>G | CA386778428 | PTPN11 | c.319C>G (p.Pro107Ala) c.316C>G (p.Pro106Ala) | dbSNP |
| 12 | g.112450499C>T | CA386778426 | PTPN11 | c.319C>T (p.Pro107Ser) c.316C>T (p.Pro106Ser) | dbSNP |
| 12 | g.112450500C>A | CA386778433 | PTPN11 | c.320C>A (p.Pro107His) c.317C>A (p.Pro106His) | dbSNP |
| 12 | g.112450500C>G | CA386778435 | PTPN11 | c.320C>G (p.Pro107Arg) c.317C>G (p.Pro106Arg) | dbSNP |
| 12 | g.112450500C>T | CA386778434 | PTPN11 | c.320C>T (p.Pro107Leu) c.317C>T (p.Pro106Leu) | dbSNP |
| 12 | g.112450501T>A | CA481881913 | PTPN11 | c.321T>A (p.Pro107=) c.318T>A (p.Pro106=) | dbSNP |
| 12 | g.112450501T>C | CA481881914 | PTPN11 | c.321T>C (p.Pro107=) c.318T>C (p.Pro106=) | |
| 12 | g.112450501T>G | CA481881915 | PTPN11 | c.321T>G (p.Pro107=) c.318T>G (p.Pro106=) | |
| 12 | g.112450502A>C | CA386778439 | PTPN11 | c.322A>C (p.Thr108Pro) c.319A>C (p.Thr107Pro) | dbSNP |
| 12 | g.112450502A>G | CA386778462 | PTPN11 | c.322A>G (p.Thr108Ala) c.319A>G (p.Thr107Ala) | dbSNP |
| 12 | g.112450502A>T | CA386778448 | PTPN11 | c.322A>T (p.Thr108Ser) c.319A>T (p.Thr107Ser) | dbSNP |
| 12 | g.112450503C>A | CA386778466 | PTPN11 | c.323C>A (p.Thr108Asn) c.320C>A (p.Thr107Asn) | dbSNP |
| 12 | g.112450503C>G | CA386778471 | PTPN11 | c.323C>G (p.Thr108Ser) c.320C>G (p.Thr107Ser) | dbSNP |
| 12 | g.112450503C>T | CA386778469 | PTPN11 | c.323C>T (p.Thr108Ile) c.320C>T (p.Thr107Ile) | ClinVar dbSNP |
| 12 | g.112450504C>A | CA481881920 | PTPN11 | c.324C>A (p.Thr108=) c.321C>A (p.Thr107=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112450504C= | CA2063740513 | PTPN11 | c.324C= (p.Thr108=) c.321C= (p.Thr107=) | |
| 12 | g.112450504C>G | CA481881921 | PTPN11 | c.324C>G (p.Thr108=) c.321C>G (p.Thr107=) | dbSNP |
| 12 | g.112450504C>T | CA481881922 | PTPN11 | c.324C>T (p.Thr108=) c.321C>T (p.Thr107=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112450505T>A | CA386778473 | PTPN11 | c.325T>A (p.Ser109Thr) c.322T>A (p.Ser108Thr) | dbSNP |
| 12 | g.112450505T>C | CA386778477 | PTPN11 | c.325T>C (p.Ser109Pro) c.322T>C (p.Ser108Pro) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450505T>G | CA386778475 | PTPN11 | c.325T>G (p.Ser109Ala) c.322T>G (p.Ser108Ala) | |
| 12 | g.112450506C>A | CA386778482 | PTPN11 | c.326C>A (p.Ser109Tyr) c.323C>A (p.Ser108Tyr) | dbSNP |
| 12 | g.112450506C>G | CA386778499 | PTPN11 | c.326C>G (p.Ser109Cys) c.323C>G (p.Ser108Cys) | dbSNP |
| 12 | g.112450506C>T | CA386778497 | PTPN11 | c.326C>T (p.Ser109Phe) c.323C>T (p.Ser108Phe) | dbSNP |
| 12 | g.112450507T>A | CA481881924 | PTPN11 | c.327T>A (p.Ser109=) c.324T>A (p.Ser108=) | dbSNP |
| 12 | g.112450507T>C | CA481881925 | PTPN11 | c.327T>C (p.Ser109=) c.324T>C (p.Ser108=) | dbSNP |
| 12 | g.112450507T>G | CA243707926 | PTPN11 | c.327T>G (p.Ser109=) c.324T>G (p.Ser108=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112450507T= | CA2063740518 | PTPN11 | c.327T= (p.Ser109=) c.324T= (p.Ser108=) | |
| 12 | g.112450508G>A | CA261587 | PTPN11 | c.328G>A (p.Glu110Lys) c.325G>A (p.Glu109Lys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450508G>C | CA386778508 | PTPN11 | c.328G>C (p.Glu110Gln) c.325G>C (p.Glu109Gln) | |
| 12 | g.112450508G= | CA2063740522 | PTPN11 | c.328G= (p.Glu110=) c.325G= (p.Glu109=) | |
| 12 | g.112450508G>T | CA386778504 | PTPN11 | c.328G>T (p.Glu110Ter) c.325G>T (p.Glu109Ter) | |
| 12 | g.112450509A= | CA2063740533 | PTPN11 | c.329A= (p.Glu110=) c.326A= (p.Glu109=) | |
| 12 | g.112450509A>C | CA282085 | PTPN11 | c.329A>C (p.Glu110Ala) c.326A>C (p.Glu109Ala) | ClinVar dbSNP |
| 12 | g.112450509A>G | CA386778512 | PTPN11 | c.329A>G (p.Glu110Gly) c.326A>G (p.Glu109Gly) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450509A>T | CA386778510 | PTPN11 | c.329A>T (p.Glu110Val) c.326A>T (p.Glu109Val) | |
| 12 | g.112450510A= | CA2063740541 | PTPN11 | c.330A= (p.Glu110=) c.327A= (p.Glu109=) | |
| 12 | g.112450510A>C | CA386778519 | PTPN11 | c.330A>C (p.Glu110Asp) c.327A>C (p.Glu109Asp) | ClinVar dbSNP |
| 12 | g.112450510A>G | CA481881930 | PTPN11 | c.330A>G (p.Glu110=) c.327A>G (p.Glu109=) | |
| 12 | g.112450510A>T | CA386778523 | PTPN11 | c.330A>T (p.Glu110Asp) c.327A>T (p.Glu109Asp) | |
| 12 | g.112450511A>C | CA481881931 | PTPN11 | c.331A>C (p.Arg111=) c.328A>C (p.Arg110=) | |
| 12 | g.112450511A>G | CA386778530 | PTPN11 | c.331A>G (p.Arg111Gly) c.328A>G (p.Arg110Gly) | dbSNP |
| 12 | g.112450511A>T | CA386778531 | PTPN11 | c.331A>T (p.Arg111Trp) c.328A>T (p.Arg110Trp) | dbSNP |
| 12 | g.112450512G>A | CA386778539 | PTPN11 | c.332G>A (p.Arg111Lys) c.329G>A (p.Arg110Lys) | |
| 12 | g.112450512G>C | CA386778540 | PTPN11 | c.332G>C (p.Arg111Thr) c.329G>C (p.Arg110Thr) | |
| 12 | g.112450512G>T | CA386778542 | PTPN11 | c.332G>T (p.Arg111Met) c.329G>T (p.Arg110Met) | |
| 12 | g.112450513G>A | CA386778547 | PTPN11 | c.332+1G>A (n.332+1G>A) c.329+1G>A (n.329+1G>A) | dbSNP |
| 12 | g.112450513G>C | CA386778574 | PTPN11 | c.332+1G>C (n.332+1G>C) c.329+1G>C (n.329+1G>C) | dbSNP |
| 12 | g.112450513G>T | CA386778579 | PTPN11 | c.332+1G>T (n.332+1G>T) c.329+1G>T (n.329+1G>T) | dbSNP |
| 12 | g.112450514T>A | CA386778591 | PTPN11 | c.332+2T>A (n.332+2T>A) c.329+2T>A (n.329+2T>A) | dbSNP |
| 12 | g.112450514T>C | CA386778587 | PTPN11 | c.332+2T>C (n.332+2T>C) c.329+2T>C (n.329+2T>C) | dbSNP |
| 12 | g.112450514T>G | CA386778585 | PTPN11 | c.332+2T>G (n.332+2T>G) c.329+2T>G (n.329+2T>G) | |
| 12 | g.112450515C>A | CA2621021901 | PTPN11 | c.332+3C>A (n.332+3C>A) c.329+3C>A (n.329+3C>A) | dbSNP gnomAD v4 |
| 12 | g.112450515C= | CA2063740550 | PTPN11 | c.332+3C= (n.332+3C=) c.329+3C= (n.329+3C=) | |
| 12 | g.112450515C>G | CA2727053174 | PTPN11 | c.332+3C>G (n.332+3C>G) c.329+3C>G (n.329+3C>G) | dbSNP |
| 12 | g.112450515C>T | CA6798535 | PTPN11 | c.332+3C>T (n.332+3C>T) c.329+3C>T (n.329+3C>T) | ClinVar dbSNP ExAC gnomAD v2 |
| 12 | g.112450516A= | CA2063740551 | PTPN11 | c.332+4A= (n.332+4A=) c.329+4A= (n.329+4A=) | |
| 12 | g.112450516A>G | CA607604929 | PTPN11 | c.332+4A>G (n.332+4A>G) c.329+4A>G (n.329+4A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112450517G>A | CA2727237212 | PTPN11 | c.332+5G>A (n.332+5G>A) c.329+5G>A (n.329+5G>A) | dbSNP |
| 12 | g.112450517G>C | CA2575298798 | PTPN11 | c.332+5G>C (n.332+5G>C) c.329+5G>C (n.329+5G>C) | dbSNP |
| 12 | g.112450518T>A | CA2727237235 | PTPN11 | c.332+6T>A (n.332+6T>A) c.329+6T>A (n.329+6T>A) | dbSNP |
| 12 | g.112450518T>C | CA2727237261 | PTPN11 | c.332+6T>C (n.332+6T>C) c.329+6T>C (n.329+6T>C) | dbSNP |
| 12 | g.112450519A= | CA2063740552 | PTPN11 | c.332+7A= (n.332+7A=) c.329+7A= (n.329+7A=) | |
| 12 | g.112450519A>T | CA2063740553 | PTPN11 | c.332+7A>T (n.332+7A>T) c.329+7A>T (n.329+7A>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450520A>G | CA2621021907 | PTPN11 | c.332+8A>G (n.332+8A>G) c.329+8A>G (n.329+8A>G) | gnomAD v4 |
| 12 | g.112450520A>T | CA2727237271 | PTPN11 | c.332+8A>T (n.332+8A>T) c.329+8A>T (n.329+8A>T) | dbSNP |
| 12 | g.112450521C>A | CA2575298799 | PTPN11 | c.332+9C>A (n.332+9C>A) c.329+9C>A (n.329+9C>A) | |
| 12 | g.112450521C>G | CA2727237659 | PTPN11 | c.332+9C>G (n.332+9C>G) c.329+9C>G (n.329+9C>G) | dbSNP |
| 12 | g.112450521C>T | CA2621021909 | PTPN11 | c.332+9C>T (n.332+9C>T) c.329+9C>T (n.329+9C>T) | gnomAD v4 |
| 12 | g.112450523T>A | CA2727237670 | PTPN11 | c.332+11T>A (n.332+11T>A) c.329+11T>A (n.329+11T>A) | dbSNP |
| 12 | g.112450524T>A | CA2727237680 | PTPN11 | c.332+12T>A (n.332+12T>A) c.329+12T>A (n.329+12T>A) | dbSNP |
| 12 | g.112450524T>G | CA2575298800 | PTPN11 | c.332+12T>G (n.332+12T>G) c.329+12T>G (n.329+12T>G) | |
| 12 | g.112450526T>G | CA2621021911 | PTPN11 | c.332+14T>G (n.332+14T>G) c.329+14T>G (n.329+14T>G) | gnomAD v4 |
| 12 | g.112450527A>C | CA2575298801 | PTPN11 | c.332+15A>C (n.332+15A>C) c.329+15A>C (n.329+15A>C) | gnomAD v4 |
| 12 | g.112450528G>A | CA2621021916 | PTPN11 | c.332+16G>A (n.332+16G>A) c.329+16G>A (n.329+16G>A) | gnomAD v4 |
| 12 | g.112450528G>C | CA2575298802 | PTPN11 | c.332+16G>C (n.332+16G>C) c.329+16G>C (n.329+16G>C) | dbSNP |
| 12 | g.112450529T>A | CA2727050384 | PTPN11 | c.332+17T>A (n.332+17T>A) c.329+17T>A (n.329+17T>A) | dbSNP |
| 12 | g.112450529T>G | CA185961 | PTPN11 | c.332+17T>G (n.332+17T>G) c.329+17T>G (n.329+17T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112450529T= | CA2063740556 | PTPN11 | c.332+17T= (n.332+17T=) c.329+17T= (n.329+17T=) | |
| 12 | g.112450530G>A | CA683654547 | PTPN11 | c.332+18G>A (n.332+18G>A) c.329+18G>A (n.329+18G>A) | dbSNP |
| 12 | g.112450530G>C | CA2727070188 | PTPN11 | c.332+18G>C (n.332+18G>C) c.329+18G>C (n.329+18G>C) | dbSNP |
| 12 | g.112450530G= | CA2063740563 | PTPN11 | c.332+18G= (n.332+18G=) c.329+18G= (n.329+18G=) | |
| 12 | g.112450530G>T | CA243707927 | PTPN11 | c.332+18G>T (n.332+18G>T) c.329+18G>T (n.329+18G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112450531A>G | CA2575298803 | PTPN11 | c.332+19A>G (n.332+19A>G) c.329+19A>G (n.329+19A>G) | |
| 12 | g.112450532C>A | CA2727237684 | PTPN11 | c.332+20C>A (n.332+20C>A) c.329+20C>A (n.329+20C>A) | dbSNP |
| 12 | g.112450532C>G | CA2727237698 | PTPN11 | c.332+20C>G (n.332+20C>G) c.329+20C>G (n.329+20C>G) | dbSNP |
| 12 | g.112450533del | CA2575298804 | PTPN11 | c.332+21del (n.332+21del) c.329+21del (n.329+21del) | |
| 12 | g.112450533C>A | CA2727237700 | PTPN11 | c.332+21C>A (n.332+21C>A) c.329+21C>A (n.329+21C>A) | dbSNP |
| 12 | g.112450533C>G | CA2727237701 | PTPN11 | c.332+21C>G (n.332+21C>G) c.329+21C>G (n.329+21C>G) | dbSNP |
| 12 | g.112450533C>T | CA2621021922 | PTPN11 | c.332+21C>T (n.332+21C>T) c.329+21C>T (n.329+21C>T) | gnomAD v4 |
| 12 | g.112450534A>C | CA2727237745 | PTPN11 | c.332+22A>C (n.332+22A>C) c.329+22A>C (n.329+22A>C) | dbSNP |
| 12 | g.112450534A>T | CA2727237746 | PTPN11 | c.332+22A>T (n.332+22A>T) c.329+22A>T (n.329+22A>T) | dbSNP |
| 12 | g.112450535C>A | CA2727237764 | PTPN11 | c.332+23C>A (n.332+23C>A) c.329+23C>A (n.329+23C>A) | dbSNP |
| 12 | g.112450535C>G | CA2727237783 | PTPN11 | c.332+23C>G (n.332+23C>G) c.329+23C>G (n.329+23C>G) | dbSNP |
| 12 | g.112450536A= | CA2063740566 | PTPN11 | c.332+24A= (n.332+24A=) c.329+24A= (n.329+24A=) | |
| 12 | g.112450536A>G | CA951924929 | PTPN11 | c.332+24A>G (n.332+24A>G) c.329+24A>G (n.329+24A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112450537A= | CA2063740568 | PTPN11 | c.332+25A= (n.332+25A=) c.329+25A= (n.329+25A=) | |
| 12 | g.112450537A>C | CA951924931 | PTPN11 | c.332+25A>C (n.332+25A>C) c.329+25A>C (n.329+25A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112450537A>G | CA2621021924 | PTPN11 | c.332+25A>G (n.332+25A>G) c.329+25A>G (n.329+25A>G) | gnomAD v4 |
| 12 | g.112450537A>T | CA2727174280 | PTPN11 | c.332+25A>T (n.332+25A>T) c.329+25A>T (n.329+25A>T) | dbSNP |
| 12 | g.112450538A= | CA2063740573 | PTPN11 | c.332+26A= (n.332+26A=) c.329+26A= (n.329+26A=) | |
| 12 | g.112450538A>C | CA913778754 | PTPN11 | c.332+26A>C (n.332+26A>C) c.329+26A>C (n.329+26A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112450539G>A | CA2575298805 | PTPN11 | c.332+27G>A (n.332+27G>A) c.329+27G>A (n.329+27G>A) | gnomAD v4 |
| 12 | g.112450539G>C | CA2727237806 | PTPN11 | c.332+27G>C (n.332+27G>C) c.329+27G>C (n.329+27G>C) | dbSNP |
| 12 | g.112450540T>A | CA2621021927 | PTPN11 | c.332+28T>A (n.332+28T>A) c.329+28T>A (n.329+28T>A) | gnomAD v4 |
| 12 | g.112450540T>C | CA2621021929 | PTPN11 | c.332+28T>C (n.332+28T>C) c.329+28T>C (n.329+28T>C) | gnomAD v4 |
| 12 | g.112450541C>A | CA2727238117 | PTPN11 | c.332+29C>A (n.332+29C>A) c.329+29C>A (n.329+29C>A) | dbSNP |
| 12 | g.112450541C>G | CA2499221453 | PTPN11 | c.332+29C>G (n.332+29C>G) c.329+29C>G (n.329+29C>G) | ClinVar dbSNP |
| 12 | g.112450541C>T | CA2727237818 | PTPN11 | c.332+29C>T (n.332+29C>T) c.329+29C>T (n.329+29C>T) | dbSNP |
| 12 | g.112450541_112450542insCACC | CA2727237817 | PTPN11 | c.332+29_332+30insCACC (n.332+29_332+30insCACC) c.329+29_329+30insCACC (n.329+29_329+30insCACC) | dbSNP |