| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112453297A= | CA2063743441 | PTPN11 | c.435A= (p.Gly145=) c.432A= (p.Gly144=) | |
| 12 | g.112453297A>C | CA481882588 | PTPN11 | c.435A>C (p.Gly145=) c.432A>C (p.Gly144=) | |
| 12 | g.112453297A>G | CA481882592 | PTPN11 | c.435A>G (p.Gly145=) c.432A>G (p.Gly144=) | dbSNP |
| 12 | g.112453297A>T | CA481882594 | PTPN11 | c.435A>T (p.Gly145=) c.432A>T (p.Gly144=) | |
| 12 | g.112453298G>A | CA386781330 | PTPN11 | c.436G>A (p.Asp146Asn) c.433G>A (p.Asp145Asn) | dbSNP |
| 12 | g.112453298G>C | CA386781323 | PTPN11 | c.436G>C (p.Asp146His) c.433G>C (p.Asp145His) | dbSNP |
| 12 | g.112453298G= | CA2063743444 | PTPN11 | c.436G= (p.Asp146=) c.433G= (p.Asp145=) | |
| 12 | g.112453298G>T | CA386781327 | PTPN11 | c.436G>T (p.Asp146Tyr) c.433G>T (p.Asp145Tyr) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.112453299A>C | CA386781333 | PTPN11 | c.437A>C (p.Asp146Ala) c.434A>C (p.Asp145Ala) | |
| 12 | g.112453299A>G | CA386781335 | PTPN11 | c.437A>G (p.Asp146Gly) c.434A>G (p.Asp145Gly) | |
| 12 | g.112453299A>T | CA386781342 | PTPN11 | c.437A>T (p.Asp146Val) c.434A>T (p.Asp145Val) | dbSNP |
| 12 | g.112453300T>A | CA386781345 | PTPN11 | c.438T>A (p.Asp146Glu) c.435T>A (p.Asp145Glu) | dbSNP |
| 12 | g.112453300T>C | CA481882603 | PTPN11 | c.438T>C (p.Asp146=) c.435T>C (p.Asp145=) | ClinVar dbSNP |
| 12 | g.112453300T>G | CA386781346 | PTPN11 | c.438T>G (p.Asp146Glu) c.435T>G (p.Asp145Glu) | dbSNP |
| 12 | g.112453300T= | CA2063743452 | PTPN11 | c.438T= (p.Asp146=) c.435T= (p.Asp145=) | |
| 12 | g.112453301T>A | CA386781347 | PTPN11 | c.439T>A (p.Phe147Ile) c.436T>A (p.Phe146Ile) | |
| 12 | g.112453301T>C | CA386781348 | PTPN11 | c.439T>C (p.Phe147Leu) c.436T>C (p.Phe146Leu) | |
| 12 | g.112453301T>G | CA386781351 | PTPN11 | c.439T>G (p.Phe147Val) c.436T>G (p.Phe146Val) | |
| 12 | g.112453302T>A | CA386781357 | PTPN11 | c.440T>A (p.Phe147Tyr) c.437T>A (p.Phe146Tyr) | |
| 12 | g.112453302T>C | CA386781363 | PTPN11 | c.440T>C (p.Phe147Ser) c.437T>C (p.Phe146Ser) | |
| 12 | g.112453302T>G | CA386781365 | PTPN11 | c.440T>G (p.Phe147Cys) c.437T>G (p.Phe146Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453302T= | CA2063743454 | PTPN11 | c.440T= (p.Phe147=) c.437T= (p.Phe146=) | |
| 12 | g.112453303T>A | CA386781368 | PTPN11 | c.441T>A (p.Phe147Leu) c.438T>A (p.Phe146Leu) | |
| 12 | g.112453303T>C | CA481882618 | PTPN11 | c.441T>C (p.Phe147=) c.438T>C (p.Phe146=) | |
| 12 | g.112453303T>G | CA386781370 | PTPN11 | c.441T>G (p.Phe147Leu) c.438T>G (p.Phe146Leu) | |
| 12 | g.112453304G>A | CA386781372 | PTPN11 | c.442G>A (p.Val148Ile) c.439G>A (p.Val147Ile) | dbSNP |
| 12 | g.112453304G>C | CA386781386 | PTPN11 | c.442G>C (p.Val148Leu) c.439G>C (p.Val147Leu) | dbSNP |
| 12 | g.112453304G>T | CA386781382 | PTPN11 | c.442G>T (p.Val148Phe) c.439G>T (p.Val147Phe) | |
| 12 | g.112453305T>A | CA386781389 | PTPN11 | c.443T>A (p.Val148Asp) c.440T>A (p.Val147Asp) | dbSNP |
| 12 | g.112453305T>C | CA386781392 | PTPN11 | c.443T>C (p.Val148Ala) c.440T>C (p.Val147Ala) | ClinVar gnomAD v4 |
| 12 | g.112453305T>G | CA386781395 | PTPN11 | c.443T>G (p.Val148Gly) c.440T>G (p.Val147Gly) | |
| 12 | g.112453306T>A | CA481882632 | PTPN11 | c.444T>A (p.Val148=) c.441T>A (p.Val147=) | |
| 12 | g.112453306T>C | CA481882634 | PTPN11 | c.444T>C (p.Val148=) c.441T>C (p.Val147=) | |
| 12 | g.112453306T>G | CA481882636 | PTPN11 | c.444T>G (p.Val148=) c.441T>G (p.Val147=) | |
| 12 | g.112453307C>A | CA386781399 | PTPN11 | c.445C>A (p.Leu149Ile) c.442C>A (p.Leu148Ile) | dbSNP |
| 12 | g.112453307C>G | CA386781404 | PTPN11 | c.445C>G (p.Leu149Val) c.442C>G (p.Leu148Val) | dbSNP |
| 12 | g.112453307C>T | CA386781405 | PTPN11 | c.445C>T (p.Leu149Phe) c.442C>T (p.Leu148Phe) | dbSNP |
| 12 | g.112453308T>A | CA386781408 | PTPN11 | c.446T>A (p.Leu149His) c.443T>A (p.Leu148His) | |
| 12 | g.112453308T>C | CA386781410 | PTPN11 | c.446T>C (p.Leu149Pro) c.443T>C (p.Leu148Pro) | |
| 12 | g.112453308T>G | CA386781412 | PTPN11 | c.446T>G (p.Leu149Arg) c.443T>G (p.Leu148Arg) | |
| 12 | g.112453309T>A | CA481882647 | PTPN11 | c.447T>A (p.Leu149=) c.444T>A (p.Leu148=) | |
| 12 | g.112453309T>C | CA481882649 | PTPN11 | c.447T>C (p.Leu149=) c.444T>C (p.Leu148=) | dbSNP |
| 12 | g.112453309T>G | CA481882650 | PTPN11 | c.447T>G (p.Leu149=) c.444T>G (p.Leu148=) | |
| 12 | g.112453310T>A | CA386781415 | PTPN11 | c.448T>A (p.Ser150Thr) c.445T>A (p.Ser149Thr) | |
| 12 | g.112453310T>C | CA386781418 | PTPN11 | c.448T>C (p.Ser150Pro) c.445T>C (p.Ser149Pro) | |
| 12 | g.112453310T>G | CA386781421 | PTPN11 | c.448T>G (p.Ser150Ala) c.445T>G (p.Ser149Ala) | |
| 12 | g.112453311C>A | CA386781433 | PTPN11 | c.449C>A (p.Ser150Tyr) c.446C>A (p.Ser149Tyr) | dbSNP |
| 12 | g.112453311C= | CA2063743460 | PTPN11 | c.449C= (p.Ser150=) c.446C= (p.Ser149=) | |
| 12 | g.112453311C>G | CA386781429 | PTPN11 | c.449C>G (p.Ser150Cys) c.446C>G (p.Ser149Cys) | ClinVar dbSNP |
| 12 | g.112453311C>T | CA386781425 | PTPN11 | c.449C>T (p.Ser150Phe) c.446C>T (p.Ser149Phe) | dbSNP |
| 12 | g.112453312T>A | CA481882662 | PTPN11 | c.450T>A (p.Ser150=) c.447T>A (p.Ser149=) | |
| 12 | g.112453312T>C | CA481882663 | PTPN11 | c.450T>C (p.Ser150=) c.447T>C (p.Ser149=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.112453312T>G | CA481882669 | PTPN11 | c.450T>G (p.Ser150=) c.447T>G (p.Ser149=) | |
| 12 | g.112453312T= | CA2063743462 | PTPN11 | c.450T= (p.Ser150=) c.447T= (p.Ser149=) | |
| 12 | g.112453313G>A | CA386781437 | PTPN11 | c.451G>A (p.Val151Met) c.448G>A (p.Val150Met) | |
| 12 | g.112453313G>C | CA6798551 | PTPN11 | c.451G>C (p.Val151Leu) c.448G>C (p.Val150Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112453313G= | CA2063743469 | PTPN11 | c.451G= (p.Val151=) c.448G= (p.Val150=) | |
| 12 | g.112453313G>T | CA386781442 | PTPN11 | c.451G>T (p.Val151Leu) c.448G>T (p.Val150Leu) | |
| 12 | g.112453314T>A | CA386781446 | PTPN11 | c.452T>A (p.Val151Glu) c.449T>A (p.Val150Glu) | dbSNP |
| 12 | g.112453314T>C | CA243708215 | PTPN11 | c.452T>C (p.Val151Ala) c.449T>C (p.Val150Ala) | dbSNP |
| 12 | g.112453314T>G | CA386781448 | PTPN11 | c.452T>G (p.Val151Gly) c.449T>G (p.Val150Gly) | |
| 12 | g.112453314T= | CA2063743475 | PTPN11 | c.452T= (p.Val151=) c.449T= (p.Val150=) | |
| 12 | g.112453315G>A | CA481882688 | PTPN11 | c.453G>A (p.Val151=) c.450G>A (p.Val150=) | dbSNP |
| 12 | g.112453315G>C | CA481882684 | PTPN11 | c.453G>C (p.Val151=) c.450G>C (p.Val150=) | dbSNP |
| 12 | g.112453315G>T | CA481882687 | PTPN11 | c.453G>T (p.Val151=) c.450G>T (p.Val150=) | |
| 12 | g.112453316C>A | CA386781449 | PTPN11 | c.454C>A (p.Arg152Ser) c.451C>A (p.Arg151Ser) | dbSNP |
| 12 | g.112453316C= | CA2063743477 | PTPN11 | c.454C= (p.Arg152=) c.451C= (p.Arg151=) | |
| 12 | g.112453316C>G | CA386781451 | PTPN11 | c.454C>G (p.Arg152Gly) c.451C>G (p.Arg151Gly) | dbSNP |
| 12 | g.112453316C>T | CA386781454 | PTPN11 | c.454C>T (p.Arg152Cys) c.451C>T (p.Arg151Cys) | dbSNP gnomAD v4 |
| 12 | g.112453317G>A | CA161782 | PTPN11 | c.455G>A (p.Arg152His) c.452G>A (p.Arg151His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.112453317G>C | CA386781459 | PTPN11 | c.455G>C (p.Arg152Pro) c.452G>C (p.Arg151Pro) | dbSNP |
| 12 | g.112453317G= | CA2063743483 | PTPN11 | c.455G= (p.Arg152=) c.452G= (p.Arg151=) | |
| 12 | g.112453317G>T | CA386781461 | PTPN11 | c.455G>T (p.Arg152Leu) c.452G>T (p.Arg151Leu) | |
| 12 | g.112453318C>A | CA481882698 | PTPN11 | c.456C>A (p.Arg152=) c.453C>A (p.Arg151=) | |
| 12 | g.112453318C= | CA2063743486 | PTPN11 | c.456C= (p.Arg152=) c.453C= (p.Arg151=) | |
| 12 | g.112453318C>G | CA481882700 | PTPN11 | c.456C>G (p.Arg152=) c.453C>G (p.Arg151=) | dbSNP |
| 12 | g.112453318C>T | CA481882701 | PTPN11 | c.456C>T (p.Arg152=) c.453C>T (p.Arg151=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453319A= | CA2063743488 | PTPN11 | c.457A= (p.Thr153=) c.454A= (p.Thr152=) | |
| 12 | g.112453319A>C | CA386781467 | PTPN11 | c.457A>C (p.Thr153Pro) c.454A>C (p.Thr152Pro) | dbSNP |
| 12 | g.112453319A>G | CA386781474 | PTPN11 | c.457A>G (p.Thr153Ala) c.454A>G (p.Thr152Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112453319A>T | CA386781469 | PTPN11 | c.457A>T (p.Thr153Ser) c.454A>T (p.Thr152Ser) | dbSNP |
| 12 | g.112453319_112453325delinsACTGGTG | CA2063743487 | PTPN11 | c.457_463delinsACTGGTG (p.Thr153=) c.454_460delinsACTGGTG (p.Thr152=) | |
| 12 | g.112453320C>A | CA386781480 | PTPN11 | c.458C>A (p.Thr153Asn) c.455C>A (p.Thr152Asn) | |
| 12 | g.112453320C= | CA2063743496 | PTPN11 | c.458C= (p.Thr153=) c.455C= (p.Thr152=) | |
| 12 | g.112453320C>G | CA386781482 | PTPN11 | c.458C>G (p.Thr153Ser) c.455C>G (p.Thr152Ser) | dbSNP gnomAD v4 |
| 12 | g.112453320C>T | CA386781491 | PTPN11 | c.458C>T (p.Thr153Ile) c.455C>T (p.Thr152Ile) | dbSNP |
| 12 | g.112453320_112453325delinsAAGAACACAGGGGAGAGCA | CA129798 | PTPN11 | c.458_463delinsAAGAACACAGGGGAGAGCA (p.Thr153LysfsTer8) c.455_460delinsAAGAACACAGGGGAGAGCA (p.Thr152LysfsTer8) | ClinVar dbSNP |
| 12 | g.112453321T>A | CA481882712 | PTPN11 | c.459T>A (p.Thr153=) c.456T>A (p.Thr152=) | |
| 12 | g.112453321T>C | CA481882711 | PTPN11 | c.459T>C (p.Thr153=) c.456T>C (p.Thr152=) | |
| 12 | g.112453321T>G | CA481882714 | PTPN11 | c.459T>G (p.Thr153=) c.456T>G (p.Thr152=) | dbSNP |
| 12 | g.112453321T= | CA2063743502 | PTPN11 | c.459T= (p.Thr153=) c.456T= (p.Thr152=) | |
| 12 | g.112453322G>A | CA386781496 | PTPN11 | c.460G>A (p.Gly154Ser) c.457G>A (p.Gly153Ser) | ClinVar dbSNP |
| 12 | g.112453322G>C | CA386781500 | PTPN11 | c.460G>C (p.Gly154Arg) c.457G>C (p.Gly153Arg) | dbSNP |
| 12 | g.112453322G>T | CA386781504 | PTPN11 | c.460G>T (p.Gly154Cys) c.457G>T (p.Gly153Cys) | |
| 12 | g.112453323G>A | CA386781507 | PTPN11 | c.461G>A (p.Gly154Asp) c.458G>A (p.Gly153Asp) | dbSNP |
| 12 | g.112453323G>C | CA6798552 | PTPN11 | c.461G>C (p.Gly154Ala) c.458G>C (p.Gly153Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453323G= | CA2063743506 | PTPN11 | c.461G= (p.Gly154=) c.458G= (p.Gly153=) | |
| 12 | g.112453323G>T | CA386781510 | PTPN11 | c.461G>T (p.Gly154Val) c.458G>T (p.Gly153Val) | |
| 12 | g.112453324T>A | CA481882722 | PTPN11 | c.462T>A (p.Gly154=) c.459T>A (p.Gly153=) | dbSNP |
| 12 | g.112453324T>C | CA481882724 | PTPN11 | c.462T>C (p.Gly154=) c.459T>C (p.Gly153=) | |
| 12 | g.112453324T>G | CA481882728 | PTPN11 | c.462T>G (p.Gly154=) c.459T>G (p.Gly153=) | dbSNP |
| 12 | g.112453325G>A | CA386781514 | PTPN11 | c.463G>A (p.Asp155Asn) c.460G>A (p.Asp154Asn) | dbSNP COSMIC |
| 12 | g.112453325G>C | CA386781516 | PTPN11 | c.463G>C (p.Asp155His) c.460G>C (p.Asp154His) | dbSNP |
| 12 | g.112453325G>T | CA386781517 | PTPN11 | c.463G>T (p.Asp155Tyr) c.460G>T (p.Asp154Tyr) | COSMIC |
| 12 | g.112453326A>C | CA386781522 | PTPN11 | c.464A>C (p.Asp155Ala) c.461A>C (p.Asp154Ala) | |
| 12 | g.112453326A>G | CA386781519 | PTPN11 | c.464A>G (p.Asp155Gly) c.461A>G (p.Asp154Gly) | |
| 12 | g.112453326A>T | CA386781518 | PTPN11 | c.464A>T (p.Asp155Val) c.461A>T (p.Asp154Val) | dbSNP |
| 12 | g.112453327T>A | CA386781524 | PTPN11 | c.465T>A (p.Asp155Glu) c.462T>A (p.Asp154Glu) | dbSNP |
| 12 | g.112453327T>C | CA481882735 | PTPN11 | c.465T>C (p.Asp155=) c.462T>C (p.Asp154=) | gnomAD v4 |
| 12 | g.112453327T>G | CA386781528 | PTPN11 | c.465T>G (p.Asp155Glu) c.462T>G (p.Asp154Glu) | |
| 12 | g.112453328G>A | CA386781531 | PTPN11 | c.466G>A (p.Asp156Asn) c.463G>A (p.Asp155Asn) | dbSNP |
| 12 | g.112453328G>C | CA386781532 | PTPN11 | c.466G>C (p.Asp156His) c.463G>C (p.Asp155His) | |
| 12 | g.112453328G>T | CA386781533 | PTPN11 | c.466G>T (p.Asp156Tyr) c.463G>T (p.Asp155Tyr) | ClinVar dbSNP |
| 12 | g.112453329A= | CA2063743517 | PTPN11 | c.467A= (p.Asp156=) c.1A= c.464A= (p.Asp155=) | |
| 12 | g.112453329A>C | CA386781534 | PTPN11 | c.467A>C (p.Asp156Ala) c.1A>C c.464A>C (p.Asp155Ala) | dbSNP |
| 12 | g.112453329A>G | CA243708216 | PTPN11 | c.467A>G (p.Asp156Gly) c.1A>G c.464A>G (p.Asp155Gly) | dbSNP |
| 12 | g.112453329A>T | CA386781536 | PTPN11 | c.467A>T (p.Asp156Val) c.1A>T c.464A>T (p.Asp155Val) | dbSNP |
| 12 | g.112453330C>A | CA386781539 | PTPN11 | c.468C>A (p.Asp156Glu) c.2C>A c.465C>A (p.Asp155Glu) | |
| 12 | g.112453330C>G | CA386781541 | PTPN11 | c.468C>G (p.Asp156Glu) c.2C>G c.465C>G (p.Asp155Glu) | dbSNP |
| 12 | g.112453330C>T | CA481882737 | PTPN11 | c.468C>T (p.Asp156=) c.2C>T c.465C>T (p.Asp155=) | |
| 12 | g.112453331A>C | CA386781544 | PTPN11 | c.469A>C (p.Lys157Gln) c.3A>C c.466A>C (p.Lys156Gln) | |
| 12 | g.112453331A>G | CA386781548 | PTPN11 | c.469A>G (p.Lys157Glu) c.3A>G c.466A>G (p.Lys156Glu) | |
| 12 | g.112453331A>T | CA386781552 | PTPN11 | c.469A>T (p.Lys157Ter) c.3A>T c.466A>T (p.Lys156Ter) | |
| 12 | g.112453332A= | CA2063743519 | PTPN11 | c.470A= (p.Lys157=) c.4A= c.467A= (p.Lys156=) | |
| 12 | g.112453332A>C | CA386781559 | PTPN11 | c.470A>C (p.Lys157Thr) c.4A>C c.467A>C (p.Lys156Thr) | |
| 12 | g.112453332A>G | CA386781562 | PTPN11 | c.470A>G (p.Lys157Arg) c.4A>G c.467A>G (p.Lys156Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112453332A>T | CA386781556 | PTPN11 | c.470A>T (p.Lys157Ile) c.4A>T c.467A>T (p.Lys156Ile) | |
| 12 | g.112453333A>C | CA386781566 | PTPN11 | c.471A>C (p.Lys157Asn) c.5A>C c.468A>C (p.Lys156Asn) | |
| 12 | g.112453333A>G | CA481882747 | PTPN11 | c.471A>G (p.Lys157=) c.5A>G c.468A>G (p.Lys156=) | |
| 12 | g.112453333A>T | CA386781570 | PTPN11 | c.471A>T (p.Lys157Asn) c.5A>T c.468A>T (p.Lys156Asn) | |
| 12 | g.112453334G>A | CA386781573 | PTPN11 | c.472G>A (p.Gly158Arg) c.6G>A c.469G>A (p.Gly157Arg) | dbSNP gnomAD v4 |
| 12 | g.112453334G>C | CA386781576 | PTPN11 | c.472G>C (p.Gly158Arg) c.6G>C c.469G>C (p.Gly157Arg) | |
| 12 | g.112453334G>T | CA386781583 | PTPN11 | c.472G>T (p.Gly158Trp) c.6G>T c.469G>T (p.Gly157Trp) | dbSNP gnomAD v4 |
| 12 | g.112453335G>A | CA386781588 | PTPN11 | c.473G>A (p.Gly158Glu) c.7G>A c.470G>A (p.Gly157Glu) | dbSNP gnomAD v4 |
| 12 | g.112453335G>C | CA386781600 | PTPN11 | c.473G>C (p.Gly158Ala) c.7G>C c.470G>C (p.Gly157Ala) | ClinVar dbSNP |
| 12 | g.112453335G= | CA2063743530 | PTPN11 | c.473G= (p.Gly158=) c.7G= c.470G= (p.Gly157=) | |
| 12 | g.112453335G>T | CA386781602 | PTPN11 | c.473G>T (p.Gly158Val) c.7G>T c.470G>T (p.Gly157Val) | ClinVar |
| 12 | g.112453336G>A | CA481882772 | PTPN11 | c.474G>A (p.Gly158=) c.8G>A c.471G>A (p.Gly157=) | |
| 12 | g.112453336G>C | CA481882764 | PTPN11 | c.474G>C (p.Gly158=) c.8G>C c.471G>C (p.Gly157=) | |
| 12 | g.112453336G>T | CA481882766 | PTPN11 | c.474G>T (p.Gly158=) c.8G>T c.471G>T (p.Gly157=) | |
| 12 | g.112453336_112453337insA | CA2727221569 | PTPN11 | c.474_475insA (p.Glu159ArgfsTer4) c.8_9insA c.471_472insA (p.Glu158ArgfsTer4) | dbSNP |
| 12 | g.112453337G>A | CA386781617 | PTPN11 | c.475G>A (p.Glu159Lys) c.9G>A c.472G>A (p.Glu158Lys) | dbSNP |
| 12 | g.112453337G>C | CA386781618 | PTPN11 | c.475G>C (p.Glu159Gln) c.9G>C c.472G>C (p.Glu158Gln) | dbSNP |
| 12 | g.112453337G>T | CA386781621 | PTPN11 | c.475G>T (p.Glu159Ter) c.9G>T c.472G>T (p.Glu158Ter) | |
| 12 | g.112453338A>C | CA386781632 | PTPN11 | c.476A>C (p.Glu159Ala) c.10A>C c.473A>C (p.Glu158Ala) | |
| 12 | g.112453338A>G | CA386781629 | PTPN11 | c.476A>G (p.Glu159Gly) c.10A>G c.473A>G (p.Glu158Gly) | dbSNP |
| 12 | g.112453338A>T | CA386781626 | PTPN11 | c.476A>T (p.Glu159Val) c.10A>T c.473A>T (p.Glu158Val) | |
| 12 | g.112453339G>A | CA481882784 | PTPN11 | c.477G>A (p.Glu159=) c.11G>A c.474G>A (p.Glu158=) | dbSNP |
| 12 | g.112453339G>C | CA6798553 | PTPN11 | c.477G>C (p.Glu159Asp) c.11G>C c.474G>C (p.Glu158Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112453339G= | CA2063743534 | PTPN11 | c.477G= (p.Glu159=) c.11G= c.474G= (p.Glu158=) | |
| 12 | g.112453339G>T | CA386781643 | PTPN11 | c.477G>T (p.Glu159Asp) c.11G>T c.474G>T (p.Glu158Asp) | |
| 12 | g.112453340A>C | CA386781655 | PTPN11 | c.478A>C (p.Ser160Arg) c.12A>C c.475A>C (p.Ser159Arg) | |
| 12 | g.112453340A>G | CA386781657 | PTPN11 | c.478A>G (p.Ser160Gly) c.12A>G c.475A>G (p.Ser159Gly) | |
| 12 | g.112453340A>T | CA386781659 | PTPN11 | c.478A>T (p.Ser160Cys) c.12A>T c.475A>T (p.Ser159Cys) | |
| 12 | g.112453341G>A | CA243708217 | PTPN11 | c.479G>A (p.Ser160Asn) c.13G>A c.476G>A (p.Ser159Asn) | ClinVar dbSNP |
| 12 | g.112453341G>C | CA386781662 | PTPN11 | c.479G>C (p.Ser160Thr) c.13G>C c.476G>C (p.Ser159Thr) | dbSNP |
| 12 | g.112453341G= | CA2063743539 | PTPN11 | c.479G= (p.Ser160=) c.13G= c.476G= (p.Ser159=) | |
| 12 | g.112453341G>T | CA386781666 | PTPN11 | c.479G>T (p.Ser160Ile) c.13G>T c.476G>T (p.Ser159Ile) | gnomAD v4 |
| 12 | g.112453342C>A | CA386781671 | PTPN11 | c.480C>A (p.Ser160Arg) c.14C>A c.477C>A (p.Ser159Arg) | dbSNP |
| 12 | g.112453342C>G | CA386781672 | PTPN11 | c.480C>G (p.Ser160Arg) c.14C>G c.477C>G (p.Ser159Arg) | dbSNP |
| 12 | g.112453342C>T | CA481882787 | PTPN11 | c.480C>T (p.Ser160=) c.14C>T c.477C>T (p.Ser159=) | dbSNP |
| 12 | g.112453343A>C | CA386781673 | PTPN11 | c.481A>C (p.Asn161His) c.15A>C c.478A>C (p.Asn160His) | |
| 12 | g.112453343A>G | CA386781675 | PTPN11 | c.481A>G (p.Asn161Asp) c.15A>G c.478A>G (p.Asn160Asp) | |
| 12 | g.112453343A>T | CA386781678 | PTPN11 | c.481A>T (p.Asn161Tyr) c.15A>T c.478A>T (p.Asn160Tyr) | dbSNP |
| 12 | g.112453344A>C | CA386781691 | PTPN11 | c.482A>C (p.Asn161Thr) c.16A>C c.479A>C (p.Asn160Thr) | |
| 12 | g.112453344A>G | CA386781694 | PTPN11 | c.482A>G (p.Asn161Ser) c.16A>G c.479A>G (p.Asn160Ser) | dbSNP |
| 12 | g.112453344A>T | CA386781684 | PTPN11 | c.482A>T (p.Asn161Ile) c.16A>T c.479A>T (p.Asn160Ile) | |
| 12 | g.112453345T>A | CA386781699 | PTPN11 | c.483T>A (p.Asn161Lys) c.17T>A c.480T>A (p.Asn160Lys) | dbSNP |
| 12 | g.112453345T>C | CA481882791 | PTPN11 | c.483T>C (p.Asn161=) c.17T>C c.480T>C (p.Asn160=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112453345T>G | CA386781700 | PTPN11 | c.483T>G (p.Asn161Lys) c.17T>G c.480T>G (p.Asn160Lys) | |
| 12 | g.112453345T= | CA2063743544 | PTPN11 | c.483T= (p.Asn161=) c.17T= c.480T= (p.Asn160=) | |
| 12 | g.112453346G>A | CA386781711 | PTPN11 | c.484G>A (p.Asp162Asn) c.18G>A c.481G>A (p.Asp161Asn) | dbSNP |
| 12 | g.112453346G>C | CA386781717 | PTPN11 | c.484G>C (p.Asp162His) c.18G>C c.481G>C (p.Asp161His) | dbSNP |
| 12 | g.112453346G>T | CA386781714 | PTPN11 | c.484G>T (p.Asp162Tyr) c.18G>T c.481G>T (p.Asp161Tyr) | dbSNP |
| 12 | g.112453347A>C | CA386781726 | PTPN11 | c.485A>C (p.Asp162Ala) c.19A>C c.482A>C (p.Asp161Ala) | |
| 12 | g.112453347A>G | CA386781731 | PTPN11 | c.485A>G (p.Asp162Gly) c.19A>G c.482A>G (p.Asp161Gly) | |
| 12 | g.112453347A>T | CA386781729 | PTPN11 | c.485A>T (p.Asp162Val) c.19A>T c.482A>T (p.Asp161Val) | dbSNP |
| 12 | g.112453348C>A | CA386781736 | PTPN11 | c.486C>A (p.Asp162Glu) c.20C>A c.483C>A (p.Asp161Glu) | dbSNP |
| 12 | g.112453348C= | CA2063743551 | PTPN11 | c.486C= (p.Asp162=) c.20C= c.483C= (p.Asp161=) | |
| 12 | g.112453348C>G | CA386781741 | PTPN11 | c.486C>G (p.Asp162Glu) c.20C>G c.483C>G (p.Asp161Glu) | dbSNP |
| 12 | g.112453348C>T | CA282089 | PTPN11 | c.486C>T (p.Asp162=) c.20C>T c.483C>T (p.Asp161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.112453349G>A | CA297079 | PTPN11 | c.487G>A (p.Gly163Ser) c.21G>A c.484G>A (p.Gly162Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453349G>C | CA386781746 | PTPN11 | c.487G>C (p.Gly163Arg) c.21G>C c.484G>C (p.Gly162Arg) | dbSNP |
| 12 | g.112453349G= | CA2063743562 | PTPN11 | c.487G= (p.Gly163=) c.21G= c.484G= (p.Gly162=) | |
| 12 | g.112453349G>T | CA386781748 | PTPN11 | c.487G>T (p.Gly163Cys) c.21G>T c.484G>T (p.Gly162Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112453350G>A | CA386781750 | PTPN11 | c.488G>A (p.Gly163Asp) c.22G>A c.485G>A (p.Gly162Asp) | ClinVar |
| 12 | g.112453350G>C | CA386781755 | PTPN11 | c.488G>C (p.Gly163Ala) c.22G>C c.485G>C (p.Gly162Ala) | |
| 12 | g.112453350G>T | CA386781759 | PTPN11 | c.488G>T (p.Gly163Val) c.22G>T c.485G>T (p.Gly162Val) | |
| 12 | g.112453351C>A | CA481882797 | PTPN11 | c.489C>A (p.Gly163=) c.23C>A c.486C>A (p.Gly162=) | dbSNP |
| 12 | g.112453351C= | CA2063743571 | PTPN11 | c.489C= (p.Gly163=) c.23C= c.486C= (p.Gly162=) | |
| 12 | g.112453351C>G | CA481882798 | PTPN11 | c.489C>G (p.Gly163=) c.23C>G c.486C>G (p.Gly162=) | dbSNP |
| 12 | g.112453351C>T | CA481882794 | PTPN11 | c.489C>T (p.Gly163=) c.23C>T c.486C>T (p.Gly162=) | ClinVar dbSNP |
| 12 | g.112453352A>C | CA386781764 | PTPN11 | c.490A>C (p.Lys164Gln) c.24A>C c.487A>C (p.Lys163Gln) | |
| 12 | g.112453352A>G | CA386781766 | PTPN11 | c.490A>G (p.Lys164Glu) c.24A>G c.487A>G (p.Lys163Glu) | |
| 12 | g.112453352A>T | CA386781768 | PTPN11 | c.490A>T (p.Lys164Ter) c.24A>T c.487A>T (p.Lys163Ter) | |
| 12 | g.112453353A= | CA2063743578 | PTPN11 | c.491A= (p.Lys164=) c.25A= c.488A= (p.Lys163=) | |
| 12 | g.112453353A>C | CA386781774 | PTPN11 | c.491A>C (p.Lys164Thr) c.25A>C c.488A>C (p.Lys163Thr) | |
| 12 | g.112453353A>G | CA386781772 | PTPN11 | c.491A>G (p.Lys164Arg) c.25A>G c.488A>G (p.Lys163Arg) | dbSNP |
| 12 | g.112453353A>T | CA386781770 | PTPN11 | c.491A>T (p.Lys164Met) c.25A>T c.488A>T (p.Lys163Met) | |
| 12 | g.112453354G>A | CA481882802 | PTPN11 | c.492G>A (p.Lys164=) c.26G>A c.489G>A (p.Lys163=) | |
| 12 | g.112453354G>C | CA386781777 | PTPN11 | c.492G>C (p.Lys164Asn) c.26G>C c.489G>C (p.Lys163Asn) | dbSNP |
| 12 | g.112453354G>T | CA386781779 | PTPN11 | c.492G>T (p.Lys164Asn) c.26G>T c.489G>T (p.Lys163Asn) | |
| 12 | g.112453355T>A | CA386781782 | PTPN11 | c.493T>A (p.Ser165Thr) c.27T>A c.490T>A (p.Ser164Thr) | dbSNP |
| 12 | g.112453355T>C | CA386781785 | PTPN11 | c.493T>C (p.Ser165Pro) c.27T>C c.490T>C (p.Ser164Pro) | |
| 12 | g.112453355T>G | CA386781788 | PTPN11 | c.493T>G (p.Ser165Ala) c.27T>G c.490T>G (p.Ser164Ala) | dbSNP |
| 12 | g.112453356C>A | CA386781790 | PTPN11 | c.494C>A (p.Ser165Tyr) c.28C>A c.491C>A (p.Ser164Tyr) | dbSNP |
| 12 | g.112453356C>G | CA386781792 | PTPN11 | c.494C>G (p.Ser165Cys) c.28C>G c.491C>G (p.Ser164Cys) | dbSNP |
| 12 | g.112453356C>T | CA386781795 | PTPN11 | c.494C>T (p.Ser165Phe) c.28C>T c.491C>T (p.Ser164Phe) | |
| 12 | g.112453357T>A | CA6798554 | PTPN11 | c.495T>A (p.Ser165=) c.29T>A c.492T>A (p.Ser164=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112453357T>C | CA481882811 | PTPN11 | c.495T>C (p.Ser165=) c.29T>C c.492T>C (p.Ser164=) | |
| 12 | g.112453357T>G | CA481882813 | PTPN11 | c.495T>G (p.Ser165=) c.29T>G c.492T>G (p.Ser164=) | |
| 12 | g.112453357T= | CA2063743583 | PTPN11 | c.495T= (p.Ser165=) c.29T= c.492T= (p.Ser164=) | |
| 12 | g.112453358A>C | CA386781799 | PTPN11 | c.496A>C (p.Lys166Gln) c.30A>C c.493A>C (p.Lys165Gln) | |
| 12 | g.112453358A>G | CA386781801 | PTPN11 | c.496A>G (p.Lys166Glu) c.30A>G c.493A>G (p.Lys165Glu) | gnomAD v4 |
| 12 | g.112453358A>T | CA386781803 | PTPN11 | c.496A>T (p.Lys166Ter) c.30A>T c.493A>T (p.Lys165Ter) | COSMIC |
| 12 | g.112453359A>C | CA386781805 | PTPN11 | c.497A>C (p.Lys166Thr) c.31A>C c.494A>C (p.Lys165Thr) | |
| 12 | g.112453359A>G | CA386781809 | PTPN11 | c.497A>G (p.Lys166Arg) c.31A>G c.494A>G (p.Lys165Arg) | |
| 12 | g.112453359A>T | CA386781807 | PTPN11 | c.497A>T (p.Lys166Ile) c.31A>T c.494A>T (p.Lys165Ile) | |
| 12 | g.112453360A= | CA2063743586 | PTPN11 | c.498A= (p.Lys166=) c.32A= c.495A= (p.Lys165=) | |
| 12 | g.112453360A>C | CA386781812 | PTPN11 | c.498A>C (p.Lys166Asn) c.32A>C c.495A>C (p.Lys165Asn) | |
| 12 | g.112453360A>G | CA243708218 | PTPN11 | c.498A>G (p.Lys166=) c.32A>G c.495A>G (p.Lys165=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112453360A>T | CA386781814 | PTPN11 | c.498A>T (p.Lys166Asn) c.32A>T c.495A>T (p.Lys165Asn) | |
| 12 | g.112453361G>A | CA386781819 | PTPN11 | c.499G>A (p.Val167Met) c.33G>A c.496G>A (p.Val166Met) | dbSNP |
| 12 | g.112453361G>C | CA386781821 | PTPN11 | c.499G>C (p.Val167Leu) c.33G>C c.496G>C (p.Val166Leu) | |
| 12 | g.112453361G>T | CA386781823 | PTPN11 | c.499G>T (p.Val167Leu) c.33G>T c.496G>T (p.Val166Leu) | |
| 12 | g.112453362T>A | CA386781828 | PTPN11 | c.500T>A (p.Val167Glu) c.34T>A c.497T>A (p.Val166Glu) | dbSNP |
| 12 | g.112453362T>C | CA386781830 | PTPN11 | c.500T>C (p.Val167Ala) c.34T>C c.497T>C (p.Val166Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112453362T>G | CA386781832 | PTPN11 | c.500T>G (p.Val167Gly) c.34T>G c.497T>G (p.Val166Gly) | |
| 12 | g.112453362T= | CA2063743587 | PTPN11 | c.500T= (p.Val167=) c.34T= c.497T= (p.Val166=) | |
| 12 | g.112453363G>A | CA481882885 | PTPN11 | c.501G>A (p.Val167=) c.35G>A c.498G>A (p.Val166=) | dbSNP |
| 12 | g.112453363G>C | CA481882882 | PTPN11 | c.501G>C (p.Val167=) c.35G>C c.498G>C (p.Val166=) | ClinVar |
| 12 | g.112453363G>T | CA481882884 | PTPN11 | c.501G>T (p.Val167=) c.35G>T c.498G>T (p.Val166=) | |
| 12 | g.112453364A= | CA2063743591 | PTPN11 | c.502A= (p.Thr168=) c.36A= c.499A= (p.Thr167=) | |
| 12 | g.112453364A>C | CA386781834 | PTPN11 | c.502A>C (p.Thr168Pro) c.36A>C c.499A>C (p.Thr167Pro) | |
| 12 | g.112453364A>G | CA386781836 | PTPN11 | c.502A>G (p.Thr168Ala) c.36A>G c.499A>G (p.Thr167Ala) | ClinVar dbSNP |
| 12 | g.112453364A>T | CA386781838 | PTPN11 | c.502A>T (p.Thr168Ser) c.36A>T c.499A>T (p.Thr167Ser) | ClinVar dbSNP |
| 12 | g.112453364_112453365delinsAC | CA2063743590 | PTPN11 | c.502_503delinsAC (p.Thr168=) c.36_37delinsAC c.499_500delinsAC (p.Thr167=) | |
| 12 | g.112453365C>A | CA386781846 | PTPN11 | c.503C>A (p.Thr168Asn) c.37C>A c.500C>A (p.Thr167Asn) | dbSNP gnomAD v4 |
| 12 | g.112453365C>G | CA386781842 | PTPN11 | c.503C>G (p.Thr168Ser) c.37C>G c.500C>G (p.Thr167Ser) | dbSNP gnomAD v4 |
| 12 | g.112453365C>T | CA386781844 | PTPN11 | c.503C>T (p.Thr168Ile) c.37C>T c.500C>T (p.Thr167Ile) | dbSNP |
| 12 | g.112453367del | CA658822710 | PTPN11 | c.505del (p.His169MetfsTer3) c.39del c.502del (p.His168MetfsTer3) | ClinVar dbSNP |
| 12 | g.112453366C>A | CA481882888 | PTPN11 | c.504C>A (p.Thr168=) c.38C>A c.501C>A (p.Thr167=) | dbSNP |
| 12 | g.112453366C>G | CA481882889 | PTPN11 | c.504C>G (p.Thr168=) c.38C>G c.501C>G (p.Thr167=) | dbSNP |
| 12 | g.112453366C>T | CA481882890 | PTPN11 | c.504C>T (p.Thr168=) c.38C>T c.501C>T (p.Thr167=) | dbSNP gnomAD v4 |
| 12 | g.112453367C>A | CA386781847 | PTPN11 | c.505C>A (p.His169Asn) c.39C>A c.502C>A (p.His168Asn) | dbSNP |
| 12 | g.112453367C>G | CA386781849 | PTPN11 | c.505C>G (p.His169Asp) c.39C>G c.502C>G (p.His168Asp) | |
| 12 | g.112453367C>T | CA386781851 | PTPN11 | c.505C>T (p.His169Tyr) c.39C>T c.502C>T (p.His168Tyr) | |
| 12 | g.112453368A>C | CA386781855 | PTPN11 | c.506A>C (p.His169Pro) c.40A>C c.503A>C (p.His168Pro) | |
| 12 | g.112453368A>G | CA386781857 | PTPN11 | c.506A>G (p.His169Arg) c.40A>G c.503A>G (p.His168Arg) | |
| 12 | g.112453368A>T | CA386781859 | PTPN11 | c.506A>T (p.His169Leu) c.40A>T c.503A>T (p.His168Leu) | |
| 12 | g.112453369T>A | CA386781862 | PTPN11 | c.507T>A (p.His169Gln) c.41T>A c.504T>A (p.His168Gln) | |
| 12 | g.112453369T>C | CA481882894 | PTPN11 | c.507T>C (p.His169=) c.41T>C c.504T>C (p.His168=) | ClinVar dbSNP |
| 12 | g.112453369T>G | CA386781864 | PTPN11 | c.507T>G (p.His169Gln) c.41T>G c.504T>G (p.His168Gln) | |
| 12 | g.112453370G>A | CA386781865 | PTPN11 | c.508G>A (p.Val170Ile) c.42G>A c.505G>A (p.Val169Ile) | dbSNP |
| 12 | g.112453370G>C | CA386781867 | PTPN11 | c.508G>C (p.Val170Leu) c.42G>C c.505G>C (p.Val169Leu) | dbSNP |
| 12 | g.112453370G>T | CA386781869 | PTPN11 | c.508G>T (p.Val170Phe) c.42G>T c.505G>T (p.Val169Phe) | |
| 12 | g.112453371T>A | CA386781880 | PTPN11 | c.509T>A (p.Val170Asp) c.43T>A c.506T>A (p.Val169Asp) | dbSNP |
| 12 | g.112453371T>C | CA386781881 | PTPN11 | c.509T>C (p.Val170Ala) c.43T>C c.506T>C (p.Val169Ala) | |
| 12 | g.112453371T>G | CA386781871 | PTPN11 | c.509T>G (p.Val170Gly) c.43T>G c.506T>G (p.Val169Gly) | |
| 12 | g.112453372T>A | CA481882901 | PTPN11 | c.510T>A (p.Val170=) c.44T>A c.507T>A (p.Val169=) | |
| 12 | g.112453372T>C | CA481882902 | PTPN11 | c.510T>C (p.Val170=) c.44T>C c.507T>C (p.Val169=) | |
| 12 | g.112453372T>G | CA481882903 | PTPN11 | c.510T>G (p.Val170=) c.44T>G c.507T>G (p.Val169=) | |
| 12 | g.112453373A>C | CA386781891 | PTPN11 | c.511A>C (p.Met171Leu) c.45A>C c.508A>C (p.Met170Leu) | |
| 12 | g.112453373A>G | CA386781883 | PTPN11 | c.511A>G (p.Met171Val) c.45A>G c.508A>G (p.Met170Val) | dbSNP |
| 12 | g.112453373A>T | CA386781885 | PTPN11 | c.511A>T (p.Met171Leu) c.45A>T c.508A>T (p.Met170Leu) | |
| 12 | g.112453374T>A | CA386781892 | PTPN11 | c.512T>A (p.Met171Lys) c.46T>A c.509T>A (p.Met170Lys) | |
| 12 | g.112453374T>C | CA386781894 | PTPN11 | c.512T>C (p.Met171Thr) c.46T>C c.509T>C (p.Met170Thr) | |
| 12 | g.112453374T>G | CA386781896 | PTPN11 | c.512T>G (p.Met171Arg) c.46T>G c.509T>G (p.Met170Arg) | |
| 12 | g.112453375G>A | CA386781899 | PTPN11 | c.513G>A (p.Met171Ile) c.47G>A c.510G>A (p.Met170Ile) | dbSNP |
| 12 | g.112453375G>C | CA386781901 | PTPN11 | c.513G>C (p.Met171Ile) c.47G>C c.510G>C (p.Met170Ile) | dbSNP |
| 12 | g.112453375G>T | CA386781903 | PTPN11 | c.513G>T (p.Met171Ile) c.47G>T c.510G>T (p.Met170Ile) | |
| 12 | g.112453376A>C | CA386781907 | PTPN11 | c.514A>C (p.Ile172Leu) c.48A>C c.511A>C (p.Ile171Leu) | |
| 12 | g.112453376A>G | CA386781910 | PTPN11 | c.514A>G (p.Ile172Val) c.48A>G c.511A>G (p.Ile171Val) | |
| 12 | g.112453376A>T | CA386781912 | PTPN11 | c.514A>T (p.Ile172Phe) c.48A>T c.511A>T (p.Ile171Phe) | dbSNP |
| 12 | g.112453376_112453386del | CA2580085826 | PTPN11 | c.514_524del (p.Ile172GlyfsTer13) c.48_58del c.511_521del (p.Ile171GlyfsTer13) | ClinVar |
| 12 | g.112453377T>A | CA386781917 | PTPN11 | c.515T>A (p.Ile172Asn) c.49T>A c.512T>A (p.Ile171Asn) | dbSNP |
| 12 | g.112453377T>C | CA386781919 | PTPN11 | c.515T>C (p.Ile172Thr) c.49T>C c.512T>C (p.Ile171Thr) | |
| 12 | g.112453377T>G | CA386781922 | PTPN11 | c.515T>G (p.Ile172Ser) c.49T>G c.512T>G (p.Ile171Ser) | |
| 12 | g.112453378T>A | CA481882908 | PTPN11 | c.516T>A (p.Ile172=) c.50T>A c.513T>A (p.Ile171=) | dbSNP |
| 12 | g.112453378T>C | CA481882907 | PTPN11 | c.516T>C (p.Ile172=) c.50T>C c.513T>C (p.Ile171=) | |
| 12 | g.112453378T>G | CA386781923 | PTPN11 | c.516T>G (p.Ile172Met) c.50T>G c.513T>G (p.Ile171Met) | |
| 12 | g.112453378T= | CA2063743598 | PTPN11 | c.516T= (p.Ile172=) c.50T= c.513T= (p.Ile171=) | |
| 12 | g.112453379C>A | CA386781924 | PTPN11 | c.517C>A (p.Arg173Ser) c.51C>A c.514C>A (p.Arg172Ser) | dbSNP |
| 12 | g.112453379C= | CA2063743602 | PTPN11 | c.517C= (p.Arg173=) c.51C= c.514C= (p.Arg172=) | |
| 12 | g.112453379C>G | CA386781925 | PTPN11 | c.517C>G (p.Arg173Gly) c.51C>G c.514C>G (p.Arg172Gly) | dbSNP |
| 12 | g.112453379C>T | CA6798555 | PTPN11 | c.517C>T (p.Arg173Cys) c.51C>T c.514C>T (p.Arg172Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112453380G>A | CA243708219 | PTPN11 | c.518G>A (p.Arg173His) c.52G>A c.515G>A (p.Arg172His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453380G>C | CA386781928 | PTPN11 | c.518G>C (p.Arg173Pro) c.52G>C c.515G>C (p.Arg172Pro) | ClinVar dbSNP |
| 12 | g.112453380G= | CA2063743621 | PTPN11 | c.518G= (p.Arg173=) c.52G= c.515G= (p.Arg172=) | |
| 12 | g.112453380G>T | CA6798556 | PTPN11 | c.518G>T (p.Arg173Leu) c.52G>T c.515G>T (p.Arg172Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112453381C>A | CA481882910 | PTPN11 | c.519C>A (p.Arg173=) c.53C>A c.516C>A (p.Arg172=) | dbSNP |
| 12 | g.112453381C= | CA2063743628 | PTPN11 | c.519C= (p.Arg173=) c.53C= c.516C= (p.Arg172=) | |
| 12 | g.112453381C>G | CA6798557 | PTPN11 | c.519C>G (p.Arg173=) c.53C>G c.516C>G (p.Arg172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453381C>T | CA481882911 | PTPN11 | c.519C>T (p.Arg173=) c.53C>T c.516C>T (p.Arg172=) | dbSNP |
| 12 | g.112453382T>A | CA386781929 | PTPN11 | c.520T>A (p.Cys174Ser) c.54T>A c.517T>A (p.Cys173Ser) | gnomAD v4 |
| 12 | g.112453382T>C | CA386781930 | PTPN11 | c.520T>C (p.Cys174Arg) c.54T>C c.517T>C (p.Cys173Arg) | |
| 12 | g.112453382T>G | CA386781931 | PTPN11 | c.520T>G (p.Cys174Gly) c.54T>G c.517T>G (p.Cys173Gly) | |
| 12 | g.112453383G>A | CA386781932 | PTPN11 | c.521G>A (p.Cys174Tyr) c.55G>A c.518G>A (p.Cys173Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453383G>C | CA386781933 | PTPN11 | c.521G>C (p.Cys174Ser) c.55G>C c.518G>C (p.Cys173Ser) | dbSNP |
| 12 | g.112453383G= | CA2063743636 | PTPN11 | c.521G= (p.Cys174=) c.55G= c.518G= (p.Cys173=) | |
| 12 | g.112453383G>T | CA386781934 | PTPN11 | c.521G>T (p.Cys174Phe) c.55G>T c.518G>T (p.Cys173Phe) | |
| 12 | g.112453384T>A | CA386781935 | PTPN11 | c.522T>A (p.Cys174Ter) c.56T>A c.519T>A (p.Cys173Ter) | dbSNP |
| 12 | g.112453384T>C | CA481882915 | PTPN11 | c.522T>C (p.Cys174=) c.56T>C c.519T>C (p.Cys173=) | |
| 12 | g.112453384T>G | CA386781936 | PTPN11 | c.522T>G (p.Cys174Trp) c.56T>G c.519T>G (p.Cys173Trp) | |
| 12 | g.112453385C>A | CA386781937 | PTPN11 | c.523C>A (p.Gln175Lys) c.57C>A c.520C>A (p.Gln174Lys) | |
| 12 | g.112453385C= | CA2063743639 | PTPN11 | c.523C= (p.Gln175=) c.57C= c.520C= (p.Gln174=) | |
| 12 | g.112453385C>G | CA386781938 | PTPN11 | c.523C>G (p.Gln175Glu) c.57C>G c.520C>G (p.Gln174Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112453385C>T | CA386781939 | PTPN11 | c.523C>T (p.Gln175Ter) c.57C>T c.520C>T (p.Gln174Ter) | COSMIC |
| 12 | g.112453386A= | CA2063743640 | PTPN11 | c.524A= (p.Gln175=) c.58A= c.521A= (p.Gln174=) | |
| 12 | g.112453386A>C | CA386781940 | PTPN11 | c.524A>C (p.Gln175Pro) c.58A>C c.521A>C (p.Gln174Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112453386A>G | CA386781941 | PTPN11 | c.524A>G (p.Gln175Arg) c.58A>G c.521A>G (p.Gln174Arg) | |
| 12 | g.112453386A>T | CA386781942 | PTPN11 | c.524A>T (p.Gln175Leu) c.58A>T c.521A>T (p.Gln174Leu) | |
| 12 | g.112453387G>A | CA481882918 | PTPN11 | c.525G>A (p.Gln175=) c.59G>A c.522G>A (p.Gln174=) | dbSNP |
| 12 | g.112453387G>C | CA386781943 | PTPN11 | c.525G>C (p.Gln175His) c.59G>C c.522G>C (p.Gln174His) | |
| 12 | g.112453387G>T | CA386781944 | PTPN11 | c.525G>T (p.Gln175His) c.59G>T c.522G>T (p.Gln174His) | |
| 12 | g.112453388G>A | CA386781945 | PTPN11 | c.525+1G>A (n.525+1G>A) c.59+1G>A c.522+1G>A (n.522+1G>A) | ClinVar dbSNP |
| 12 | g.112453388G>C | CA386781946 | PTPN11 | c.525+1G>C (n.525+1G>C) c.59+1G>C c.522+1G>C (n.522+1G>C) | |
| 12 | g.112453388G>T | CA386781947 | PTPN11 | c.525+1G>T (n.525+1G>T) c.59+1G>T c.522+1G>T (n.522+1G>T) | |
| 12 | g.112453388_112453389insAAC | CA2621022443 | PTPN11 | c.525+1_525+2insAAC (n.525+1_525+2insAAC) c.59+1_59+2insAAC c.522+1_522+2insAAC (n.522+1_522+2insAAC) | gnomAD v4 |
| 12 | g.112453388_112453389insAACTGAAA | CA2621022440 | PTPN11 | c.525+1_525+2insAACTGAAA (n.525+1_525+2insAACTGAAA) c.59+1_59+2insAACTGAAA c.522+1_522+2insAACTGAAA (n.522+1_522+2insAACTGAAA) | gnomAD v4 |
| 12 | g.112453389T>A | CA386781948 | PTPN11 | c.525+2T>A (n.525+2T>A) c.59+2T>A c.522+2T>A (n.522+2T>A) | dbSNP |
| 12 | g.112453389T>C | CA386781949 | PTPN11 | c.525+2T>C (n.525+2T>C) c.59+2T>C c.522+2T>C (n.522+2T>C) | dbSNP |
| 12 | g.112453389T>G | CA386781950 | PTPN11 | c.525+2T>G (n.525+2T>G) c.59+2T>G c.522+2T>G (n.522+2T>G) | |
| 12 | g.112453389_112453390insG | CA2621022444 | PTPN11 | c.525+2_525+3insG (n.525+2_525+3insG) c.59+2_59+3insG c.522+2_522+3insG (n.522+2_522+3insG) | gnomAD v4 |
| 12 | g.112453390_112453391insCGACGTTGGTGGAGGAG | CA2621022445 | PTPN11 | c.525+3_525+4insCGACGTTGGTGGAGGAG (n.525+3_525+4insCGACGTTGGTGGAGGAG) c.59+3_59+4insCGACGTTGGTGGAGGAG c.522+3_522+4insCGACGTTGGTGGAGGAG (n.522+3_522+4insCGACGTTGGTGGAGGAG) | gnomAD v4 |
| 12 | g.112453393T>A | CA2573148014 | PTPN11 | c.525+6T>A (n.525+6T>A) c.59+6T>A c.522+6T>A (n.522+6T>A) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112453393T>C | CA243708220 | PTPN11 | c.525+6T>C (n.525+6T>C) c.59+6T>C c.522+6T>C (n.522+6T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453393T= | CA2063743641 | PTPN11 | c.525+6T= (n.525+6T=) c.59+6T= c.522+6T= (n.522+6T=) | |
| 12 | g.112453393_112453394insACGACGTTGGTGGAGGAGAACGGTTTGATTCTTTGACAGATCTTGTGGAACATTATAAGAAGAATCCTATGGTGGAAACATTGGGTACAGTACTACAA | CA2621022450 | PTPN11 | c.525+6_525+7insACGACGTTGGTGGAGGAGAACGGTTTGATTCTTTGACAGATCTTGTGGAACATTATAAGAAGAATCCTATGGTGGAAACATTGGGTACAGTACTACAA (n.525+6_525+7insACGACGTTGGTGGAGGAGAACGGTTTGATTCTTTGACAGATCTTGTGGAACATTATAAGAAGAATCCTATGGTGGAAACATTGGGTACAGTACTACAA) c.59+6_59+7insACGACGTTGGTGGAGGAGAACGGTTTGATTCTTTGACAGATCTTGTGGAACATTATAAGAAGAATCCTATGGTGGAAACATTGGGTACAGTACTACAA c.522+6_522+7insACGACGTTGGTGGAGGAGAACGGTTTGATTCTTTGACAGATCTTGTGGAACATTATAAGAAGAATCCTATGGTGGAAACATTGGGTACAGTACTACAA (n.522+6_522+7insACGACGTTGGTGGAGGAGAACGGTTTGATTCTTTGACAGATCTTGTGGAACATTATAAGAAGAATCCTATGGTGGAAACATTGGGTACAGTACTACAA) | gnomAD v4 |
| 12 | g.112453396C>A | CA2727222423 | PTPN11 | c.525+9C>A (n.525+9C>A) c.59+9C>A c.522+9C>A (n.522+9C>A) | dbSNP |
| 12 | g.112453396C>G | CA2727222394 | PTPN11 | c.525+9C>G (n.525+9C>G) c.59+9C>G c.522+9C>G (n.522+9C>G) | dbSNP |
| 12 | g.112453397C>A | CA2727222439 | PTPN11 | c.525+10C>A (n.525+10C>A) c.59+10C>A c.522+10C>A (n.522+10C>A) | dbSNP |
| 12 | g.112453397C>T | CA2621022451 | PTPN11 | c.525+10C>T (n.525+10C>T) c.59+10C>T c.522+10C>T (n.522+10C>T) | gnomAD v4 |