| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112453176del | CA6798544 | PTPN11 | c.333-19del (n.333-19del) c.330-19del (n.330-19del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453175T>C | CA2621022252 | PTPN11 | c.333-20T>C (n.333-20T>C) c.330-20T>C (n.330-20T>C) | gnomAD v4 |
| 12 | g.112453177A= | CA2063743220 | PTPN11 | c.333-18A= (n.333-18A=) c.330-18A= (n.330-18A=) | |
| 12 | g.112453177A>T | CA2063743219 | PTPN11 | c.333-18A>T (n.333-18A>T) c.330-18A>T (n.330-18A>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112453177_112453178delinsAT | CA2063743221 | PTPN11 | c.333-18_333-17delinsAT (n.333-18_333-17delinsAT) c.330-18_330-17delinsAT (n.330-18_330-17delinsAT) | |
| 12 | g.112453183del | CA919176263 | PTPN11 | c.333-12del (n.333-12del) c.330-12del (n.330-12del) | dbSNP |
| 12 | g.112453183T>A | CA243708209 | PTPN11 | c.333-12T>A (n.333-12T>A) c.330-12T>A (n.330-12T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112453183T>C | CA2621022257 | PTPN11 | c.333-12T>C (n.333-12T>C) c.330-12T>C (n.330-12T>C) | gnomAD v4 |
| 12 | g.112453183T= | CA2063743224 | PTPN11 | c.333-12T= (n.333-12T=) c.330-12T= (n.330-12T=) | |
| 12 | g.112453183_112453184delinsTA | CA2063743226 | PTPN11 | c.333-12_333-11delinsTA (n.333-12_333-11delinsTA) c.330-12_330-11delinsTA (n.330-12_330-11delinsTA) | |
| 12 | g.112453184A= | CA2063743233 | PTPN11 | c.333-11A= (n.333-11A=) c.330-11A= (n.330-11A=) | |
| 12 | g.112453184A>G | CA607604947 | PTPN11 | c.333-11A>G (n.333-11A>G) c.330-11A>G (n.330-11A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453184A>T | CA2575298833 | PTPN11 | c.333-11A>T (n.333-11A>T) c.330-11A>T (n.330-11A>T) | dbSNP |
| 12 | g.112453188del | CA221953 | PTPN11 | c.333-7del (n.333-7del) c.330-7del (n.330-7del) | dbSNP |
| 12 | g.112453185A>T | CA2727218311 | PTPN11 | c.333-10A>T (n.333-10A>T) c.330-10A>T (n.330-10A>T) | dbSNP |
| 12 | g.112453186A>T | CA2727218313 | PTPN11 | c.333-9A>T (n.333-9A>T) c.330-9A>T (n.330-9A>T) | dbSNP |
| 12 | g.112453189C>T | CA2727218320 | PTPN11 | c.333-6C>T (n.333-6C>T) c.330-6C>T (n.330-6C>T) | dbSNP |
| 12 | g.112453189_112453190delinsCT | CA2063743235 | PTPN11 | c.333-6_333-5delinsCT (n.333-6_333-5delinsCT) c.330-6_330-5delinsCT (n.330-6_330-5delinsCT) | |
| 12 | g.112453192del | CA6798545 | PTPN11 | c.333-3del (n.333-3del) c.330-3del (n.330-3del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112453191T>C | CA658797954 | PTPN11 | c.333-4T>C (n.333-4T>C) c.330-4T>C (n.330-4T>C) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112453191T= | CA2063743240 | PTPN11 | c.333-4T= (n.333-4T=) c.330-4T= (n.330-4T=) | |
| 12 | g.112453192T>A | CA607604948 | PTPN11 | c.333-3T>A (n.333-3T>A) c.330-3T>A (n.330-3T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112453192T>C | CA282088 | PTPN11 | c.333-3T>C (n.333-3T>C) c.330-3T>C (n.330-3T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453192T= | CA2063743254 | PTPN11 | c.333-3T= (n.333-3T=) c.330-3T= (n.330-3T=) | |
| 12 | g.112453193A>C | CA386780357 | PTPN11 | c.333-2A>C (n.333-2A>C) c.330-2A>C (n.330-2A>C) | |
| 12 | g.112453193A>G | CA386780360 | PTPN11 | c.333-2A>G (n.333-2A>G) c.330-2A>G (n.330-2A>G) | |
| 12 | g.112453193A>T | CA386780361 | PTPN11 | c.333-2A>T (n.333-2A>T) c.330-2A>T (n.330-2A>T) | dbSNP |
| 12 | g.112453194G>A | CA386780369 | PTPN11 | c.333-1G>A (n.333-1G>A) c.330-1G>A (n.330-1G>A) | |
| 12 | g.112453194G>C | CA386780366 | PTPN11 | c.333-1G>C (n.333-1G>C) c.330-1G>C (n.330-1G>C) | |
| 12 | g.112453194G>T | CA386780363 | PTPN11 | c.333-1G>T (n.333-1G>T) c.330-1G>T (n.330-1G>T) | dbSNP |
| 12 | g.112453195G>A | CA481882269 | PTPN11 | c.333G>A (p.Arg111=) c.330G>A (p.Arg110=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112453195G>C | CA386780373 | PTPN11 | c.333G>C (p.Arg111Ser) c.330G>C (p.Arg110Ser) | dbSNP |
| 12 | g.112453195G= | CA2063743261 | PTPN11 | c.333G= (p.Arg111=) c.330G= (p.Arg110=) | |
| 12 | g.112453195G>T | CA386780375 | PTPN11 | c.333G>T (p.Arg111Ser) c.330G>T (p.Arg110Ser) | dbSNP |
| 12 | g.112453196T>A | CA386780382 | PTPN11 | c.334T>A (p.Trp112Arg) c.331T>A (p.Trp111Arg) | |
| 12 | g.112453196T>C | CA386780385 | PTPN11 | c.334T>C (p.Trp112Arg) c.331T>C (p.Trp111Arg) | |
| 12 | g.112453196T>G | CA386780386 | PTPN11 | c.334T>G (p.Trp112Gly) c.331T>G (p.Trp111Gly) | |
| 12 | g.112453197G>A | CA386780387 | PTPN11 | c.335G>A (p.Trp112Ter) c.332G>A (p.Trp111Ter) | dbSNP |
| 12 | g.112453197G>C | CA386780390 | PTPN11 | c.335G>C (p.Trp112Ser) c.332G>C (p.Trp111Ser) | |
| 12 | g.112453197G>T | CA386780392 | PTPN11 | c.335G>T (p.Trp112Leu) c.332G>T (p.Trp111Leu) | |
| 12 | g.112453198del | CA2727218333 | PTPN11 | c.336del (p.Trp112CysfsTer15) c.333del (p.Trp111CysfsTer15) | dbSNP |
| 12 | g.112453198G>A | CA386780395 | PTPN11 | c.336G>A (p.Trp112Ter) c.333G>A (p.Trp111Ter) | |
| 12 | g.112453198G>C | CA386780396 | PTPN11 | c.336G>C (p.Trp112Cys) c.333G>C (p.Trp111Cys) | |
| 12 | g.112453198G>T | CA386780397 | PTPN11 | c.336G>T (p.Trp112Cys) c.333G>T (p.Trp111Cys) | dbSNP |
| 12 | g.112453199T>A | CA386780399 | PTPN11 | c.337T>A (p.Phe113Ile) c.334T>A (p.Phe112Ile) | |
| 12 | g.112453199T>C | CA386780407 | PTPN11 | c.337T>C (p.Phe113Leu) c.334T>C (p.Phe112Leu) | |
| 12 | g.112453199T>G | CA386780409 | PTPN11 | c.337T>G (p.Phe113Val) c.334T>G (p.Phe112Val) | |
| 12 | g.112453200T>A | CA386780415 | PTPN11 | c.338T>A (p.Phe113Tyr) c.335T>A (p.Phe112Tyr) | |
| 12 | g.112453200T>C | CA386780417 | PTPN11 | c.338T>C (p.Phe113Ser) c.335T>C (p.Phe112Ser) | dbSNP |
| 12 | g.112453200T>G | CA386780412 | PTPN11 | c.338T>G (p.Phe113Cys) c.335T>G (p.Phe112Cys) | |
| 12 | g.112453201T>A | CA386780418 | PTPN11 | c.339T>A (p.Phe113Leu) c.336T>A (p.Phe112Leu) | |
| 12 | g.112453201T>C | CA481882292 | PTPN11 | c.339T>C (p.Phe113=) c.336T>C (p.Phe112=) | |
| 12 | g.112453201T>G | CA386780419 | PTPN11 | c.339T>G (p.Phe113Leu) c.336T>G (p.Phe112Leu) | |
| 12 | g.112453202C>A | CA386780423 | PTPN11 | c.340C>A (p.His114Asn) c.337C>A (p.His113Asn) | |
| 12 | g.112453202C>G | CA386780437 | PTPN11 | c.340C>G (p.His114Asp) c.337C>G (p.His113Asp) | |
| 12 | g.112453202C>T | CA386780440 | PTPN11 | c.340C>T (p.His114Tyr) c.337C>T (p.His113Tyr) | dbSNP COSMIC |
| 12 | g.112453203A>C | CA386780443 | PTPN11 | c.341A>C (p.His114Pro) c.338A>C (p.His113Pro) | |
| 12 | g.112453203A>G | CA386780452 | PTPN11 | c.341A>G (p.His114Arg) c.338A>G (p.His113Arg) | dbSNP |
| 12 | g.112453203A>T | CA386780455 | PTPN11 | c.341A>T (p.His114Leu) c.338A>T (p.His113Leu) | dbSNP |
| 12 | g.112453204T>A | CA386780458 | PTPN11 | c.342T>A (p.His114Gln) c.339T>A (p.His113Gln) | |
| 12 | g.112453204T>C | CA481882304 | PTPN11 | c.342T>C (p.His114=) c.339T>C (p.His113=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.112453204T>G | CA386780463 | PTPN11 | c.342T>G (p.His114Gln) c.339T>G (p.His113Gln) | |
| 12 | g.112453204T= | CA2063743268 | PTPN11 | c.342T= (p.His114=) c.339T= (p.His113=) | |
| 12 | g.112453205G>A | CA386780468 | PTPN11 | c.343G>A (p.Gly115Arg) c.340G>A (p.Gly114Arg) | dbSNP |
| 12 | g.112453205G>C | CA386780469 | PTPN11 | c.343G>C (p.Gly115Arg) c.340G>C (p.Gly114Arg) | |
| 12 | g.112453205G= | CA2063743274 | PTPN11 | c.343G= (p.Gly115=) c.340G= (p.Gly114=) | |
| 12 | g.112453205G>T | CA386780473 | PTPN11 | c.343G>T (p.Gly115Ter) c.340G>T (p.Gly114Ter) | dbSNP |
| 12 | g.112453206del | CA2727218442 | PTPN11 | c.344del (p.Gly115AspfsTer12) c.341del (p.Gly114AspfsTer12) | dbSNP |
| 12 | g.112453206G>A | CA386780485 | PTPN11 | c.344G>A (p.Gly115Glu) c.341G>A (p.Gly114Glu) | |
| 12 | g.112453206G>C | CA386780476 | PTPN11 | c.344G>C (p.Gly115Ala) c.341G>C (p.Gly114Ala) | dbSNP |
| 12 | g.112453206G>T | CA386780481 | PTPN11 | c.344G>T (p.Gly115Val) c.341G>T (p.Gly114Val) | dbSNP |
| 12 | g.112453207A>C | CA481882311 | PTPN11 | c.345A>C (p.Gly115=) c.342A>C (p.Gly114=) | |
| 12 | g.112453207A>G | CA481882312 | PTPN11 | c.345A>G (p.Gly115=) c.342A>G (p.Gly114=) | |
| 12 | g.112453207A>T | CA481882313 | PTPN11 | c.345A>T (p.Gly115=) c.342A>T (p.Gly114=) | dbSNP |
| 12 | g.112453208C>A | CA386780489 | PTPN11 | c.346C>A (p.His116Asn) c.343C>A (p.His115Asn) | ClinVar dbSNP |
| 12 | g.112453208C= | CA2063743280 | PTPN11 | c.346C= (p.His116=) c.343C= (p.His115=) | |
| 12 | g.112453208C>G | CA386780493 | PTPN11 | c.346C>G (p.His116Asp) c.343C>G (p.His115Asp) | |
| 12 | g.112453208C>T | CA243708210 | PTPN11 | c.346C>T (p.His116Tyr) c.343C>T (p.His115Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112453209A>C | CA386780500 | PTPN11 | c.347A>C (p.His116Pro) c.344A>C (p.His115Pro) | |
| 12 | g.112453209A>G | CA386780505 | PTPN11 | c.347A>G (p.His116Arg) c.344A>G (p.His115Arg) | |
| 12 | g.112453209A>T | CA386780508 | PTPN11 | c.347A>T (p.His116Leu) c.344A>T (p.His115Leu) | |
| 12 | g.112453209_112453211delinsATC | CA2063743286 | PTPN11 | c.347_349delinsATC (p.His116=) c.344_346delinsATC (p.His115=) | |
| 12 | g.112453210T>A | CA386780510 | PTPN11 | c.348T>A (p.His116Gln) c.345T>A (p.His115Gln) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112453210T>C | CA481882321 | PTPN11 | c.348T>C (p.His116=) c.345T>C (p.His115=) | dbSNP |
| 12 | g.112453210T>G | CA386780511 | PTPN11 | c.348T>G (p.His116Gln) c.345T>G (p.His115Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453210T= | CA2063743303 | PTPN11 | c.348T= (p.His116=) c.345T= (p.His115=) | |
| 12 | g.112453215_112453216del | CA129799 | PTPN11 | c.353_354del (p.Ser118TrpfsTer10) c.350_351del (p.Ser117TrpfsTer10) | ClinVar dbSNP |
| 12 | g.112453211C>A | CA386780524 | PTPN11 | c.349C>A (p.Leu117Ile) c.346C>A (p.Leu116Ile) | |
| 12 | g.112453211C>G | CA386780527 | PTPN11 | c.349C>G (p.Leu117Val) c.346C>G (p.Leu116Val) | |
| 12 | g.112453211C>T | CA386780528 | PTPN11 | c.349C>T (p.Leu117Phe) c.346C>T (p.Leu116Phe) | COSMIC |
| 12 | g.112453212T>A | CA386780531 | PTPN11 | c.350T>A (p.Leu117His) c.347T>A (p.Leu116His) | |
| 12 | g.112453212T>C | CA386780535 | PTPN11 | c.350T>C (p.Leu117Pro) c.347T>C (p.Leu116Pro) | |
| 12 | g.112453212T>G | CA386780536 | PTPN11 | c.350T>G (p.Leu117Arg) c.347T>G (p.Leu116Arg) | |
| 12 | g.112453213C>A | CA481882334 | PTPN11 | c.351C>A (p.Leu117=) c.348C>A (p.Leu116=) | dbSNP |
| 12 | g.112453213C>G | CA481882335 | PTPN11 | c.351C>G (p.Leu117=) c.348C>G (p.Leu116=) | ClinVar gnomAD v4 |
| 12 | g.112453213C>T | CA481882337 | PTPN11 | c.351C>T (p.Leu117=) c.348C>T (p.Leu116=) | dbSNP |
| 12 | g.112453214T>A | CA386780538 | PTPN11 | c.352T>A (p.Ser118Thr) c.349T>A (p.Ser117Thr) | |
| 12 | g.112453214T>C | CA386780540 | PTPN11 | c.352T>C (p.Ser118Pro) c.349T>C (p.Ser117Pro) | |
| 12 | g.112453214T>G | CA386780544 | PTPN11 | c.352T>G (p.Ser118Ala) c.349T>G (p.Ser117Ala) | |
| 12 | g.112453215C>A | CA386780549 | PTPN11 | c.353C>A (p.Ser118Tyr) c.350C>A (p.Ser117Tyr) | dbSNP |
| 12 | g.112453215C>G | CA386780555 | PTPN11 | c.353C>G (p.Ser118Cys) c.350C>G (p.Ser117Cys) | |
| 12 | g.112453215C>T | CA386780556 | PTPN11 | c.353C>T (p.Ser118Phe) c.350C>T (p.Ser117Phe) | dbSNP |
| 12 | g.112453216T>A | CA481882344 | PTPN11 | c.354T>A (p.Ser118=) c.351T>A (p.Ser117=) | |
| 12 | g.112453216T>C | CA481882346 | PTPN11 | c.354T>C (p.Ser118=) c.351T>C (p.Ser117=) | |
| 12 | g.112453216T>G | CA481882348 | PTPN11 | c.354T>G (p.Ser118=) c.351T>G (p.Ser117=) | ClinVar gnomAD v4 |
| 12 | g.112453217G>A | CA386780559 | PTPN11 | c.355G>A (p.Gly119Arg) c.352G>A (p.Gly118Arg) | dbSNP |
| 12 | g.112453217G>C | CA386780562 | PTPN11 | c.355G>C (p.Gly119Arg) c.352G>C (p.Gly118Arg) | dbSNP |
| 12 | g.112453217G>T | CA386780568 | PTPN11 | c.355G>T (p.Gly119Trp) c.352G>T (p.Gly118Trp) | |
| 12 | g.112453219del | CA2727218685 | PTPN11 | c.357del (p.Glu121LysfsTer6) c.354del (p.Glu120LysfsTer6) | dbSNP |
| 12 | g.112453218G>A | CA386780569 | PTPN11 | c.356G>A (p.Gly119Glu) c.353G>A (p.Gly118Glu) | dbSNP |
| 12 | g.112453218G>C | CA386780570 | PTPN11 | c.356G>C (p.Gly119Ala) c.353G>C (p.Gly118Ala) | dbSNP |
| 12 | g.112453218G>T | CA386780573 | PTPN11 | c.356G>T (p.Gly119Val) c.353G>T (p.Gly118Val) | dbSNP |
| 12 | g.112453219G>A | CA481882358 | PTPN11 | c.357G>A (p.Gly119=) c.354G>A (p.Gly118=) | COSMIC |
| 12 | g.112453219G>C | CA481882356 | PTPN11 | c.357G>C (p.Gly119=) c.354G>C (p.Gly118=) | |
| 12 | g.112453219G>T | CA481882352 | PTPN11 | c.357G>T (p.Gly119=) c.354G>T (p.Gly118=) | |
| 12 | g.112453220A>C | CA386780583 | PTPN11 | c.358A>C (p.Lys120Gln) c.355A>C (p.Lys119Gln) | |
| 12 | g.112453220A>G | CA386780582 | PTPN11 | c.358A>G (p.Lys120Glu) c.355A>G (p.Lys119Glu) | |
| 12 | g.112453220A>T | CA386780578 | PTPN11 | c.358A>T (p.Lys120Ter) c.355A>T (p.Lys119Ter) | dbSNP |
| 12 | g.112453221A>C | CA386780588 | PTPN11 | c.359A>C (p.Lys120Thr) c.356A>C (p.Lys119Thr) | |
| 12 | g.112453221A>G | CA386780591 | PTPN11 | c.359A>G (p.Lys120Arg) c.356A>G (p.Lys119Arg) | |
| 12 | g.112453221A>T | CA386780592 | PTPN11 | c.359A>T (p.Lys120Ile) c.356A>T (p.Lys119Ile) | |
| 12 | g.112453222A>C | CA386780597 | PTPN11 | c.360A>C (p.Lys120Asn) c.357A>C (p.Lys119Asn) | |
| 12 | g.112453222A>G | CA481882370 | PTPN11 | c.360A>G (p.Lys120=) c.357A>G (p.Lys119=) | gnomAD v4 |
| 12 | g.112453222A>T | CA386780600 | PTPN11 | c.360A>T (p.Lys120Asn) c.357A>T (p.Lys119Asn) | |
| 12 | g.112453223G>A | CA386780605 | PTPN11 | c.361G>A (p.Glu121Lys) c.358G>A (p.Glu120Lys) | dbSNP |
| 12 | g.112453223G>C | CA386780607 | PTPN11 | c.361G>C (p.Glu121Gln) c.358G>C (p.Glu120Gln) | dbSNP |
| 12 | g.112453223G>T | CA386780610 | PTPN11 | c.361G>T (p.Glu121Ter) c.358G>T (p.Glu120Ter) | dbSNP |
| 12 | g.112453224A>C | CA386780613 | PTPN11 | c.362A>C (p.Glu121Ala) c.359A>C (p.Glu120Ala) | ClinVar |
| 12 | g.112453224A>G | CA386780615 | PTPN11 | c.362A>G (p.Glu121Gly) c.359A>G (p.Glu120Gly) | |
| 12 | g.112453224A>T | CA386780620 | PTPN11 | c.362A>T (p.Glu121Val) c.359A>T (p.Glu120Val) | |
| 12 | g.112453225A>C | CA386780623 | PTPN11 | c.363A>C (p.Glu121Asp) c.360A>C (p.Glu120Asp) | |
| 12 | g.112453225A>G | CA481882376 | PTPN11 | c.363A>G (p.Glu121=) c.360A>G (p.Glu120=) | ClinVar dbSNP |
| 12 | g.112453225A>T | CA386780629 | PTPN11 | c.363A>T (p.Glu121Asp) c.360A>T (p.Glu120Asp) | dbSNP |
| 12 | g.112453226G>A | CA386780653 | PTPN11 | c.364G>A (p.Ala122Thr) c.361G>A (p.Ala121Thr) | dbSNP |
| 12 | g.112453226G>C | CA386780657 | PTPN11 | c.364G>C (p.Ala122Pro) c.361G>C (p.Ala121Pro) | dbSNP |
| 12 | g.112453226G>T | CA386780646 | PTPN11 | c.364G>T (p.Ala122Ser) c.361G>T (p.Ala121Ser) | dbSNP |
| 12 | g.112453227C>A | CA386780659 | PTPN11 | c.365C>A (p.Ala122Glu) c.362C>A (p.Ala121Glu) | dbSNP gnomAD v4 |
| 12 | g.112453227C>G | CA386780660 | PTPN11 | c.365C>G (p.Ala122Gly) c.362C>G (p.Ala121Gly) | dbSNP |
| 12 | g.112453227C>T | CA386780663 | PTPN11 | c.365C>T (p.Ala122Val) c.362C>T (p.Ala121Val) | dbSNP |
| 12 | g.112453228A= | CA2063743309 | PTPN11 | c.366A= (p.Ala122=) c.363A= (p.Ala121=) | |
| 12 | g.112453228A>C | CA481882384 | PTPN11 | c.366A>C (p.Ala122=) c.363A>C (p.Ala121=) | |
| 12 | g.112453228A>G | CA243708211 | PTPN11 | c.366A>G (p.Ala122=) c.363A>G (p.Ala121=) | dbSNP |
| 12 | g.112453228A>T | CA481882386 | PTPN11 | c.366A>T (p.Ala122=) c.363A>T (p.Ala121=) | |
| 12 | g.112453229G>A | CA386780666 | PTPN11 | c.367G>A (p.Glu123Lys) c.364G>A (p.Glu122Lys) | |
| 12 | g.112453229G>C | CA386780668 | PTPN11 | c.367G>C (p.Glu123Gln) c.364G>C (p.Glu122Gln) | dbSNP |
| 12 | g.112453229G>T | CA386780670 | PTPN11 | c.367G>T (p.Glu123Ter) c.364G>T (p.Glu122Ter) | |
| 12 | g.112453230A>C | CA386780674 | PTPN11 | c.368A>C (p.Glu123Ala) c.365A>C (p.Glu122Ala) | |
| 12 | g.112453230A>G | CA386780678 | PTPN11 | c.368A>G (p.Glu123Gly) c.365A>G (p.Glu122Gly) | |
| 12 | g.112453230A>T | CA386780692 | PTPN11 | c.368A>T (p.Glu123Val) c.365A>T (p.Glu122Val) | |
| 12 | g.112453231G>A | CA6798546 | PTPN11 | c.369G>A (p.Glu123=) c.366G>A (p.Glu122=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112453231G>C | CA386780704 | PTPN11 | c.369G>C (p.Glu123Asp) c.366G>C (p.Glu122Asp) | dbSNP |
| 12 | g.112453231G= | CA2063743322 | PTPN11 | c.369G= (p.Glu123=) c.366G= (p.Glu122=) | |
| 12 | g.112453231G>T | CA6798547 | PTPN11 | c.369G>T (p.Glu123Asp) c.366G>T (p.Glu122Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.112453232A>C | CA386780720 | PTPN11 | c.370A>C (p.Lys124Gln) c.367A>C (p.Lys123Gln) | |
| 12 | g.112453232A>G | CA386780713 | PTPN11 | c.370A>G (p.Lys124Glu) c.367A>G (p.Lys123Glu) | |
| 12 | g.112453232A>T | CA386780716 | PTPN11 | c.370A>T (p.Lys124Ter) c.367A>T (p.Lys123Ter) | dbSNP |
| 12 | g.112453233A>C | CA386780729 | PTPN11 | c.371A>C (p.Lys124Thr) c.368A>C (p.Lys123Thr) | |
| 12 | g.112453233A>G | CA386780735 | PTPN11 | c.371A>G (p.Lys124Arg) c.368A>G (p.Lys123Arg) | |
| 12 | g.112453233A>T | CA386780739 | PTPN11 | c.371A>T (p.Lys124Ile) c.368A>T (p.Lys123Ile) | dbSNP |
| 12 | g.112453234A= | CA2063743332 | PTPN11 | c.372A= (p.Lys124=) c.369A= (p.Lys123=) | |
| 12 | g.112453234A>C | CA386780742 | PTPN11 | c.372A>C (p.Lys124Asn) c.369A>C (p.Lys123Asn) | |
| 12 | g.112453234A>G | CA243708212 | PTPN11 | c.372A>G (p.Lys124=) c.369A>G (p.Lys123=) | ClinVar dbSNP |
| 12 | g.112453234A>T | CA386780744 | PTPN11 | c.372A>T (p.Lys124Asn) c.369A>T (p.Lys123Asn) | |
| 12 | g.112453235T>A | CA386780758 | PTPN11 | c.373T>A (p.Leu125Ile) c.370T>A (p.Leu124Ile) | dbSNP |
| 12 | g.112453235T>C | CA481882404 | PTPN11 | c.373T>C (p.Leu125=) c.370T>C (p.Leu124=) | |
| 12 | g.112453235T>G | CA386780760 | PTPN11 | c.373T>G (p.Leu125Val) c.370T>G (p.Leu124Val) | |
| 12 | g.112453236T>A | CA386780764 | PTPN11 | c.374T>A (p.Leu125Ter) c.371T>A (p.Leu124Ter) | |
| 12 | g.112453236T>C | CA386780767 | PTPN11 | c.374T>C (p.Leu125Ser) c.371T>C (p.Leu124Ser) | |
| 12 | g.112453236T>G | CA386780773 | PTPN11 | c.374T>G (p.Leu125Ter) c.371T>G (p.Leu124Ter) | |
| 12 | g.112453237A= | CA2063743343 | PTPN11 | c.375A= (p.Leu125=) c.372A= (p.Leu124=) | |
| 12 | g.112453237A>C | CA386780775 | PTPN11 | c.375A>C (p.Leu125Phe) c.372A>C (p.Leu124Phe) | |
| 12 | g.112453237A>G | CA481882407 | PTPN11 | c.375A>G (p.Leu125=) c.372A>G (p.Leu124=) | dbSNP |
| 12 | g.112453237A>T | CA386780777 | PTPN11 | c.375A>T (p.Leu125Phe) c.372A>T (p.Leu124Phe) | dbSNP |
| 12 | g.112453238T>A | CA386780799 | PTPN11 | c.376T>A (p.Leu126Ile) c.373T>A (p.Leu125Ile) | |
| 12 | g.112453238T>C | CA6798548 | PTPN11 | c.376T>C (p.Leu126=) c.373T>C (p.Leu125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453238T>G | CA386780783 | PTPN11 | c.376T>G (p.Leu126Val) c.373T>G (p.Leu125Val) | |
| 12 | g.112453238T= | CA2063743345 | PTPN11 | c.376T= (p.Leu126=) c.373T= (p.Leu125=) | |
| 12 | g.112453239T>A | CA386780811 | PTPN11 | c.377T>A (p.Leu126Ter) c.374T>A (p.Leu125Ter) | dbSNP |
| 12 | g.112453239T>C | CA386780807 | PTPN11 | c.377T>C (p.Leu126Ser) c.374T>C (p.Leu125Ser) | |
| 12 | g.112453239T>G | CA386780814 | PTPN11 | c.377T>G (p.Leu126Ter) c.374T>G (p.Leu125Ter) | |
| 12 | g.112453240A>C | CA386780817 | PTPN11 | c.378A>C (p.Leu126Phe) c.375A>C (p.Leu125Phe) | |
| 12 | g.112453240A>G | CA481882411 | PTPN11 | c.378A>G (p.Leu126=) c.375A>G (p.Leu125=) | |
| 12 | g.112453240A>T | CA386780819 | PTPN11 | c.378A>T (p.Leu126Phe) c.375A>T (p.Leu125Phe) | dbSNP |
| 12 | g.112453241A>C | CA386780822 | PTPN11 | c.379A>C (p.Thr127Pro) c.376A>C (p.Thr126Pro) | |
| 12 | g.112453241A>G | CA386780823 | PTPN11 | c.379A>G (p.Thr127Ala) c.376A>G (p.Thr126Ala) | |
| 12 | g.112453241A>T | CA386780824 | PTPN11 | c.379A>T (p.Thr127Ser) c.376A>T (p.Thr126Ser) | dbSNP |
| 12 | g.112453242C>A | CA386780826 | PTPN11 | c.380C>A (p.Thr127Asn) c.377C>A (p.Thr126Asn) | |
| 12 | g.112453242C>G | CA386780827 | PTPN11 | c.380C>G (p.Thr127Ser) c.377C>G (p.Thr126Ser) | dbSNP |
| 12 | g.112453242C>T | CA386780831 | PTPN11 | c.380C>T (p.Thr127Ile) c.377C>T (p.Thr126Ile) | COSMIC |
| 12 | g.112453243T>A | CA481882415 | PTPN11 | c.381T>A (p.Thr127=) c.378T>A (p.Thr126=) | |
| 12 | g.112453243T>C | CA6798549 | PTPN11 | c.381T>C (p.Thr127=) c.378T>C (p.Thr126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112453243T>G | CA481882417 | PTPN11 | c.381T>G (p.Thr127=) c.378T>G (p.Thr126=) | |
| 12 | g.112453243T= | CA2063743350 | PTPN11 | c.381T= (p.Thr127=) c.378T= (p.Thr126=) | |
| 12 | g.112453244G>A | CA386780838 | PTPN11 | c.382G>A (p.Glu128Lys) c.379G>A (p.Glu127Lys) | |
| 12 | g.112453244G>C | CA386780839 | PTPN11 | c.382G>C (p.Glu128Gln) c.379G>C (p.Glu127Gln) | |
| 12 | g.112453244G>T | CA386780840 | PTPN11 | c.382G>T (p.Glu128Ter) c.379G>T (p.Glu127Ter) | |
| 12 | g.112453245A>C | CA386780842 | PTPN11 | c.383A>C (p.Glu128Ala) c.380A>C (p.Glu127Ala) | |
| 12 | g.112453245A>G | CA386780844 | PTPN11 | c.383A>G (p.Glu128Gly) c.380A>G (p.Glu127Gly) | dbSNP |
| 12 | g.112453245A>T | CA386780847 | PTPN11 | c.383A>T (p.Glu128Val) c.380A>T (p.Glu127Val) | dbSNP |
| 12 | g.112453246A>C | CA386780855 | PTPN11 | c.384A>C (p.Glu128Asp) c.381A>C (p.Glu127Asp) | |
| 12 | g.112453246A>G | CA481882419 | PTPN11 | c.384A>G (p.Glu128=) c.381A>G (p.Glu127=) | ClinVar |
| 12 | g.112453246A>T | CA386780856 | PTPN11 | c.384A>T (p.Glu128Asp) c.381A>T (p.Glu127Asp) | dbSNP |
| 12 | g.112453247A= | CA2063743357 | PTPN11 | c.385A= (p.Lys129=) c.382A= (p.Lys128=) | |
| 12 | g.112453247A>C | CA386780858 | PTPN11 | c.385A>C (p.Lys129Gln) c.382A>C (p.Lys128Gln) | |
| 12 | g.112453247A>G | CA386780861 | PTPN11 | c.385A>G (p.Lys129Glu) c.382A>G (p.Lys128Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112453247A>T | CA386780864 | PTPN11 | c.385A>T (p.Lys129Ter) c.382A>T (p.Lys128Ter) | |
| 12 | g.112453248A>C | CA386780868 | PTPN11 | c.386A>C (p.Lys129Thr) c.383A>C (p.Lys128Thr) | |
| 12 | g.112453248A>G | CA386780884 | PTPN11 | c.386A>G (p.Lys129Arg) c.383A>G (p.Lys128Arg) | gnomAD v4 |
| 12 | g.112453248A>T | CA386780887 | PTPN11 | c.386A>T (p.Lys129Ile) c.383A>T (p.Lys128Ile) | |
| 12 | g.112453249A>C | CA386780893 | PTPN11 | c.387A>C (p.Lys129Asn) c.384A>C (p.Lys128Asn) | ClinVar |
| 12 | g.112453249A>G | CA481882423 | PTPN11 | c.387A>G (p.Lys129=) c.384A>G (p.Lys128=) | |
| 12 | g.112453249A>T | CA386780896 | PTPN11 | c.387A>T (p.Lys129Asn) c.384A>T (p.Lys128Asn) | |
| 12 | g.112453250G>A | CA386780901 | PTPN11 | c.388G>A (p.Gly130Arg) c.385G>A (p.Gly129Arg) | dbSNP |
| 12 | g.112453250G>C | CA386780905 | PTPN11 | c.388G>C (p.Gly130Arg) c.385G>C (p.Gly129Arg) | |
| 12 | g.112453250G>T | CA386780907 | PTPN11 | c.388G>T (p.Gly130Ter) c.385G>T (p.Gly129Ter) | |
| 12 | g.112453251G>A | CA386780918 | PTPN11 | c.389G>A (p.Gly130Glu) c.386G>A (p.Gly129Glu) | dbSNP |
| 12 | g.112453251G>C | CA386780922 | PTPN11 | c.389G>C (p.Gly130Ala) c.386G>C (p.Gly129Ala) | dbSNP |
| 12 | g.112453251G>T | CA386780913 | PTPN11 | c.389G>T (p.Gly130Val) c.386G>T (p.Gly129Val) | |
| 12 | g.112453252A= | CA2063743362 | PTPN11 | c.390A= (p.Gly130=) c.387A= (p.Gly129=) | |
| 12 | g.112453252A>C | CA481882425 | PTPN11 | c.390A>C (p.Gly130=) c.387A>C (p.Gly129=) | |
| 12 | g.112453252A>G | CA243708213 | PTPN11 | c.390A>G (p.Gly130=) c.387A>G (p.Gly129=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112453252A>T | CA481882429 | PTPN11 | c.390A>T (p.Gly130=) c.387A>T (p.Gly129=) | dbSNP |
| 12 | g.112453253A>C | CA386780935 | PTPN11 | c.391A>C (p.Lys131Gln) c.388A>C (p.Lys130Gln) | |
| 12 | g.112453253A>G | CA386780939 | PTPN11 | c.391A>G (p.Lys131Glu) c.388A>G (p.Lys130Glu) | |
| 12 | g.112453253A>T | CA386780944 | PTPN11 | c.391A>T (p.Lys131Ter) c.388A>T (p.Lys130Ter) | dbSNP |
| 12 | g.112453254A= | CA2063743364 | PTPN11 | c.392A= (p.Lys131=) c.389A= (p.Lys130=) | |
| 12 | g.112453254A>C | CA386780948 | PTPN11 | c.392A>C (p.Lys131Thr) c.389A>C (p.Lys130Thr) | |
| 12 | g.112453254A>G | CA134665 | PTPN11 | c.392A>G (p.Lys131Arg) c.389A>G (p.Lys130Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453254A>T | CA386780951 | PTPN11 | c.392A>T (p.Lys131Ile) c.389A>T (p.Lys130Ile) | |
| 12 | g.112453255A= | CA2063743371 | PTPN11 | c.393A= (p.Lys131=) c.390A= (p.Lys130=) | |
| 12 | g.112453255A>C | CA386780956 | PTPN11 | c.393A>C (p.Lys131Asn) c.390A>C (p.Lys130Asn) | |
| 12 | g.112453255A>G | CA481882431 | PTPN11 | c.393A>G (p.Lys131=) c.390A>G (p.Lys130=) | ClinVar dbSNP |
| 12 | g.112453255A>T | CA386780958 | PTPN11 | c.393A>T (p.Lys131Asn) c.390A>T (p.Lys130Asn) | dbSNP |
| 12 | g.112453256C>A | CA386780963 | PTPN11 | c.394C>A (p.His132Asn) c.391C>A (p.His131Asn) | |
| 12 | g.112453256C>G | CA386780982 | PTPN11 | c.394C>G (p.His132Asp) c.391C>G (p.His131Asp) | dbSNP |
| 12 | g.112453256C>T | CA386780983 | PTPN11 | c.394C>T (p.His132Tyr) c.391C>T (p.His131Tyr) | |
| 12 | g.112453257A>C | CA386780986 | PTPN11 | c.395A>C (p.His132Pro) c.392A>C (p.His131Pro) | ClinVar |
| 12 | g.112453257A>G | CA386780988 | PTPN11 | c.395A>G (p.His132Arg) c.392A>G (p.His131Arg) | |
| 12 | g.112453257A>T | CA386780984 | PTPN11 | c.395A>T (p.His132Leu) c.392A>T (p.His131Leu) | dbSNP |
| 12 | g.112453258T>A | CA386780990 | PTPN11 | c.396T>A (p.His132Gln) c.393T>A (p.His131Gln) | |
| 12 | g.112453258T>C | CA481882433 | PTPN11 | c.396T>C (p.His132=) c.393T>C (p.His131=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112453258T>G | CA386780999 | PTPN11 | c.396T>G (p.His132Gln) c.393T>G (p.His131Gln) | |
| 12 | g.112453258T= | CA2063743374 | PTPN11 | c.396T= (p.His132=) c.393T= (p.His131=) | |
| 12 | g.112453259G>A | CA386781003 | PTPN11 | c.397G>A (p.Gly133Ser) c.394G>A (p.Gly132Ser) | ClinVar dbSNP |
| 12 | g.112453259G>C | CA386781005 | PTPN11 | c.397G>C (p.Gly133Arg) c.394G>C (p.Gly132Arg) | dbSNP |
| 12 | g.112453259G>T | CA386781012 | PTPN11 | c.397G>T (p.Gly133Cys) c.394G>T (p.Gly132Cys) | dbSNP |
| 12 | g.112453259_112453262delinsGGTA | CA2063743377 | PTPN11 | c.397_400delinsGGTA (p.Gly133=) c.394_397delinsGGTA (p.Gly132=) | |
| 12 | g.112453260G>A | CA386781032 | PTPN11 | c.398G>A (p.Gly133Asp) c.395G>A (p.Gly132Asp) | dbSNP |
| 12 | g.112453260G>C | CA386781016 | PTPN11 | c.398G>C (p.Gly133Ala) c.395G>C (p.Gly132Ala) | dbSNP |
| 12 | g.112453260G>T | CA386781029 | PTPN11 | c.398G>T (p.Gly133Val) c.395G>T (p.Gly132Val) | dbSNP |
| 12 | g.112453262_112453264del | CA607604949 | PTPN11 | c.400_402del (p.Ser134del) c.397_399del (p.Ser133del) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112453261T>A | CA481882435 | PTPN11 | c.399T>A (p.Gly133=) c.396T>A (p.Gly132=) | dbSNP |
| 12 | g.112453261T>C | CA481882436 | PTPN11 | c.399T>C (p.Gly133=) c.396T>C (p.Gly132=) | |
| 12 | g.112453261T>G | CA481882438 | PTPN11 | c.399T>G (p.Gly133=) c.396T>G (p.Gly132=) | dbSNP |
| 12 | g.112453262A>C | CA386781037 | PTPN11 | c.400A>C (p.Ser134Arg) c.397A>C (p.Ser133Arg) | |
| 12 | g.112453262A>G | CA386781038 | PTPN11 | c.400A>G (p.Ser134Gly) c.397A>G (p.Ser133Gly) | |
| 12 | g.112453262A>T | CA386781042 | PTPN11 | c.400A>T (p.Ser134Cys) c.397A>T (p.Ser133Cys) | dbSNP |
| 12 | g.112453263G>A | CA386781048 | PTPN11 | c.401G>A (p.Ser134Asn) c.398G>A (p.Ser133Asn) | |
| 12 | g.112453263G>C | CA386781052 | PTPN11 | c.401G>C (p.Ser134Thr) c.398G>C (p.Ser133Thr) | |
| 12 | g.112453263G>T | CA386781057 | PTPN11 | c.401G>T (p.Ser134Ile) c.398G>T (p.Ser133Ile) | |
| 12 | g.112453264T>A | CA386781067 | PTPN11 | c.402T>A (p.Ser134Arg) c.399T>A (p.Ser133Arg) | dbSNP |
| 12 | g.112453264T>C | CA481882447 | PTPN11 | c.402T>C (p.Ser134=) c.399T>C (p.Ser133=) | |
| 12 | g.112453264T>G | CA386781065 | PTPN11 | c.402T>G (p.Ser134Arg) c.399T>G (p.Ser133Arg) | dbSNP |
| 12 | g.112453265T>A | CA386781069 | PTPN11 | c.403T>A (p.Phe135Ile) c.400T>A (p.Phe134Ile) | dbSNP |
| 12 | g.112453265T>C | CA386781077 | PTPN11 | c.403T>C (p.Phe135Leu) c.400T>C (p.Phe134Leu) | |
| 12 | g.112453265T>G | CA386781072 | PTPN11 | c.403T>G (p.Phe135Val) c.400T>G (p.Phe134Val) | |
| 12 | g.112453266T>A | CA386781081 | PTPN11 | c.404T>A (p.Phe135Tyr) c.401T>A (p.Phe134Tyr) | gnomAD v4 |
| 12 | g.112453266T>C | CA386781084 | PTPN11 | c.404T>C (p.Phe135Ser) c.401T>C (p.Phe134Ser) | |
| 12 | g.112453266T>G | CA386781088 | PTPN11 | c.404T>G (p.Phe135Cys) c.401T>G (p.Phe134Cys) | |
| 12 | g.112453267T>A | CA386781093 | PTPN11 | c.405T>A (p.Phe135Leu) c.402T>A (p.Phe134Leu) | dbSNP |
| 12 | g.112453267T>C | CA481882461 | PTPN11 | c.405T>C (p.Phe135=) c.402T>C (p.Phe134=) | |
| 12 | g.112453267T>G | CA386781096 | PTPN11 | c.405T>G (p.Phe135Leu) c.402T>G (p.Phe134Leu) | |
| 12 | g.112453268C>A | CA386781102 | PTPN11 | c.406C>A (p.Leu136Ile) c.403C>A (p.Leu135Ile) | dbSNP |
| 12 | g.112453268C>G | CA386781106 | PTPN11 | c.406C>G (p.Leu136Val) c.403C>G (p.Leu135Val) | dbSNP |
| 12 | g.112453268C>T | CA386781109 | PTPN11 | c.406C>T (p.Leu136Phe) c.403C>T (p.Leu135Phe) | dbSNP |
| 12 | g.112453269T>A | CA386781113 | PTPN11 | c.407T>A (p.Leu136His) c.404T>A (p.Leu135His) | COSMIC |
| 12 | g.112453269T>C | CA386781116 | PTPN11 | c.407T>C (p.Leu136Pro) c.404T>C (p.Leu135Pro) | |
| 12 | g.112453269T>G | CA386781121 | PTPN11 | c.407T>G (p.Leu136Arg) c.404T>G (p.Leu135Arg) | |
| 12 | g.112453270T>A | CA481882470 | PTPN11 | c.408T>A (p.Leu136=) c.405T>A (p.Leu135=) | |
| 12 | g.112453270T>C | CA481882473 | PTPN11 | c.408T>C (p.Leu136=) c.405T>C (p.Leu135=) | gnomAD v4 COSMIC |
| 12 | g.112453270T>G | CA481882475 | PTPN11 | c.408T>G (p.Leu136=) c.405T>G (p.Leu135=) | |
| 12 | g.112453270_112453271delinsTG | CA2063743388 | PTPN11 | c.408_409delinsTG (p.Leu136=) c.405_406delinsTG (p.Leu135=) | |
| 12 | g.112453270_112453275delinsTGTACG | CA2063743391 | PTPN11 | c.408_413delinsTGTACG (p.Leu136=) c.405_410delinsTGTACG (p.Leu135=) | |
| 12 | g.112453271del | CA1139662889 | PTPN11 | c.409del (p.Val137TyrfsTer?) c.406del (p.Val136TyrfsTer?) | ClinVar dbSNP |
| 12 | g.112453271G>A | CA386781140 | PTPN11 | c.409G>A (p.Val137Ile) c.406G>A (p.Val136Ile) | dbSNP |
| 12 | g.112453271G>C | CA386781136 | PTPN11 | c.409G>C (p.Val137Leu) c.406G>C (p.Val136Leu) | dbSNP |
| 12 | g.112453271G>T | CA386781126 | PTPN11 | c.409G>T (p.Val137Leu) c.406G>T (p.Val136Leu) | |
| 12 | g.112453271_112453275del | CA129797 | PTPN11 | c.409_413del (p.Val137ArgfsTer17) c.406_410del (p.Val136ArgfsTer17) | ClinVar dbSNP |
| 12 | g.112453272T>A | CA386781145 | PTPN11 | c.410T>A (p.Val137Glu) c.407T>A (p.Val136Glu) | dbSNP |
| 12 | g.112453272T>C | CA386781150 | PTPN11 | c.410T>C (p.Val137Ala) c.407T>C (p.Val136Ala) | |
| 12 | g.112453272T>G | CA386781154 | PTPN11 | c.410T>G (p.Val137Gly) c.407T>G (p.Val136Gly) | dbSNP |