| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112477937G>A | CA481887958 | PTPN11 | c.1014G>A (p.Val338=) c.900G>A (p.Val300=) c.6G>A (p.Val2=) c.1011G>A (p.Val337=) | dbSNP |
| 12 | g.112477937G>C | CA481887959 | PTPN11 | c.1014G>C (p.Val338=) c.900G>C (p.Val300=) c.6G>C (p.Val2=) c.1011G>C (p.Val337=) | |
| 12 | g.112477937G= | CA2063775966 | PTPN11 | c.1014G= (p.Val338=) c.900G= (p.Val300=) c.6G= (p.Val2=) c.1011G= (p.Val337=) | |
| 12 | g.112477937G>T | CA481887960 | PTPN11 | c.1014G>T (p.Val338=) c.900G>T (p.Val300=) c.6G>T (p.Val2=) c.1011G>T (p.Val337=) | |
| 12 | g.112477938A>C | CA386791427 | PTPN11 | c.1015A>C (p.Asn339His) c.901A>C (p.Asn301His) c.7A>C (p.Asn3His) c.1012A>C (p.Asn338His) | |
| 12 | g.112477938A>G | CA386791429 | PTPN11 | c.1015A>G (p.Asn339Asp) c.901A>G (p.Asn301Asp) c.7A>G (p.Asn3Asp) c.1012A>G (p.Asn338Asp) | gnomAD v4 |
| 12 | g.112477938A>T | CA386791430 | PTPN11 | c.1015A>T (p.Asn339Tyr) c.901A>T (p.Asn301Tyr) c.7A>T (p.Asn3Tyr) c.1012A>T (p.Asn338Tyr) | |
| 12 | g.112477939A>C | CA386791431 | PTPN11 | c.1016A>C (p.Asn339Thr) c.902A>C (p.Asn301Thr) c.8A>C (p.Asn3Thr) c.1013A>C (p.Asn338Thr) | |
| 12 | g.112477939A>G | CA386791432 | PTPN11 | c.1016A>G (p.Asn339Ser) c.902A>G (p.Asn301Ser) c.8A>G (p.Asn3Ser) c.1013A>G (p.Asn338Ser) | gnomAD v4 COSMIC |
| 12 | g.112477939A>T | CA386791433 | PTPN11 | c.1016A>T (p.Asn339Ile) c.902A>T (p.Asn301Ile) c.8A>T (p.Asn3Ile) c.1013A>T (p.Asn338Ile) | |
| 12 | g.112477940T>A | CA386791434 | PTPN11 | c.1017T>A (p.Asn339Lys) c.903T>A (p.Asn301Lys) c.9T>A (p.Asn3Lys) c.1014T>A (p.Asn338Lys) | |
| 12 | g.112477940T>C | CA481887964 | PTPN11 | c.1017T>C (p.Asn339=) c.903T>C (p.Asn301=) c.9T>C (p.Asn3=) c.1014T>C (p.Asn338=) | ClinVar gnomAD v4 |
| 12 | g.112477940T>G | CA386791435 | PTPN11 | c.1017T>G (p.Asn339Lys) c.903T>G (p.Asn301Lys) c.9T>G (p.Asn3Lys) c.1014T>G (p.Asn338Lys) | |
| 12 | g.112477941G>A | CA386791437 | PTPN11 | c.1018G>A (p.Asp340Asn) c.904G>A (p.Asp302Asn) c.10G>A (p.Asp4Asn) c.1015G>A (p.Asp339Asn) | |
| 12 | g.112477941G>C | CA386791438 | PTPN11 | c.1018G>C (p.Asp340His) c.904G>C (p.Asp302His) c.10G>C (p.Asp4His) c.1015G>C (p.Asp339His) | |
| 12 | g.112477941G>T | CA386791440 | PTPN11 | c.1018G>T (p.Asp340Tyr) c.904G>T (p.Asp302Tyr) c.10G>T (p.Asp4Tyr) c.1015G>T (p.Asp339Tyr) | ClinVar dbSNP |
| 12 | g.112477942A>C | CA386791442 | PTPN11 | c.1019A>C (p.Asp340Ala) c.905A>C (p.Asp302Ala) c.11A>C (p.Asp4Ala) c.1016A>C (p.Asp339Ala) | |
| 12 | g.112477942A>G | CA386791444 | PTPN11 | c.1019A>G (p.Asp340Gly) c.905A>G (p.Asp302Gly) c.11A>G (p.Asp4Gly) c.1016A>G (p.Asp339Gly) | |
| 12 | g.112477942A>T | CA386791445 | PTPN11 | c.1019A>T (p.Asp340Val) c.905A>T (p.Asp302Val) c.11A>T (p.Asp4Val) c.1016A>T (p.Asp339Val) | |
| 12 | g.112477943C>A | CA386791449 | PTPN11 | c.1020C>A (p.Asp340Glu) c.906C>A (p.Asp302Glu) c.12C>A (p.Asp4Glu) c.1017C>A (p.Asp339Glu) | |
| 12 | g.112477943C= | CA2063775967 | PTPN11 | c.1020C= (p.Asp340=) c.906C= (p.Asp302=) c.12C= (p.Asp4=) c.1017C= (p.Asp339=) | |
| 12 | g.112477943C>G | CA386791447 | PTPN11 | c.1020C>G (p.Asp340Glu) c.906C>G (p.Asp302Glu) c.12C>G (p.Asp4Glu) c.1017C>G (p.Asp339Glu) | |
| 12 | g.112477943C>T | CA481887967 | PTPN11 | c.1020C>T (p.Asp340=) c.906C>T (p.Asp302=) c.12C>T (p.Asp4=) c.1017C>T (p.Asp339=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112477944T>A | CA386791451 | PTPN11 | c.1021T>A (p.Phe341Ile) c.907T>A (p.Phe303Ile) c.13T>A (p.Phe5Ile) c.1018T>A (p.Phe340Ile) | |
| 12 | g.112477944T>C | CA386791454 | PTPN11 | c.1021T>C (p.Phe341Leu) c.907T>C (p.Phe303Leu) c.13T>C (p.Phe5Leu) c.1018T>C (p.Phe340Leu) | |
| 12 | g.112477944T>G | CA386791453 | PTPN11 | c.1021T>G (p.Phe341Val) c.907T>G (p.Phe303Val) c.13T>G (p.Phe5Val) c.1018T>G (p.Phe340Val) | |
| 12 | g.112477945T>A | CA386791457 | PTPN11 | c.1022T>A (p.Phe341Tyr) c.908T>A (p.Phe303Tyr) c.14T>A (p.Phe5Tyr) c.1019T>A (p.Phe340Tyr) | |
| 12 | g.112477945T>C | CA386791460 | PTPN11 | c.1022T>C (p.Phe341Ser) c.908T>C (p.Phe303Ser) c.14T>C (p.Phe5Ser) c.1019T>C (p.Phe340Ser) | |
| 12 | g.112477945T>G | CA386791459 | PTPN11 | c.1022T>G (p.Phe341Cys) c.908T>G (p.Phe303Cys) c.14T>G (p.Phe5Cys) c.1019T>G (p.Phe340Cys) | |
| 12 | g.112477946T>A | CA386791463 | PTPN11 | c.1023T>A (p.Phe341Leu) c.909T>A (p.Phe303Leu) c.15T>A (p.Phe5Leu) c.1020T>A (p.Phe340Leu) | |
| 12 | g.112477946T>C | CA6798701 | PTPN11 | c.1023T>C (p.Phe341=) c.909T>C (p.Phe303=) c.15T>C (p.Phe5=) c.1020T>C (p.Phe340=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112477946T>G | CA386791466 | PTPN11 | c.1023T>G (p.Phe341Leu) c.909T>G (p.Phe303Leu) c.15T>G (p.Phe5Leu) c.1020T>G (p.Phe340Leu) | |
| 12 | g.112477946T= | CA2063775968 | PTPN11 | c.1023T= (p.Phe341=) c.909T= (p.Phe303=) c.15T= (p.Phe5=) c.1020T= (p.Phe340=) | |
| 12 | g.112477947T>A | CA386791468 | PTPN11 | c.1024T>A (p.Trp342Arg) c.910T>A (p.Trp304Arg) c.16T>A (p.Trp6Arg) c.1021T>A (p.Trp341Arg) | |
| 12 | g.112477947T>C | CA386791470 | PTPN11 | c.1024T>C (p.Trp342Arg) c.910T>C (p.Trp304Arg) c.16T>C (p.Trp6Arg) c.1021T>C (p.Trp341Arg) | |
| 12 | g.112477947T>G | CA386791471 | PTPN11 | c.1024T>G (p.Trp342Gly) c.910T>G (p.Trp304Gly) c.16T>G (p.Trp6Gly) c.1021T>G (p.Trp341Gly) | |
| 12 | g.112477948G>A | CA386791474 | PTPN11 | c.1025G>A (p.Trp342Ter) c.911G>A (p.Trp304Ter) c.17G>A (p.Trp6Ter) c.1022G>A (p.Trp341Ter) | COSMIC |
| 12 | g.112477948G>C | CA386791475 | PTPN11 | c.1025G>C (p.Trp342Ser) c.911G>C (p.Trp304Ser) c.17G>C (p.Trp6Ser) c.1022G>C (p.Trp341Ser) | |
| 12 | g.112477948G>T | CA386791476 | PTPN11 | c.1025G>T (p.Trp342Leu) c.911G>T (p.Trp304Leu) c.17G>T (p.Trp6Leu) c.1022G>T (p.Trp341Leu) | |
| 12 | g.112477949G>A | CA386791479 | PTPN11 | c.1026G>A (p.Trp342Ter) c.912G>A (p.Trp304Ter) c.18G>A (p.Trp6Ter) c.1023G>A (p.Trp341Ter) | |
| 12 | g.112477949G>C | CA386791481 | PTPN11 | c.1026G>C (p.Trp342Cys) c.912G>C (p.Trp304Cys) c.18G>C (p.Trp6Cys) c.1023G>C (p.Trp341Cys) | |
| 12 | g.112477949G>T | CA386791482 | PTPN11 | c.1026G>T (p.Trp342Cys) c.912G>T (p.Trp304Cys) c.18G>T (p.Trp6Cys) c.1023G>T (p.Trp341Cys) | |
| 12 | g.112477950C>A | CA481887981 | PTPN11 | c.1027C>A (p.Arg343=) c.913C>A (p.Arg305=) c.19C>A (p.Arg7=) c.1024C>A (p.Arg342=) | dbSNP gnomAD v2 |
| 12 | g.112477950C= | CA2063775969 | PTPN11 | c.1027C= (p.Arg343=) c.913C= (p.Arg305=) c.19C= (p.Arg7=) c.1024C= (p.Arg342=) | |
| 12 | g.112477950C>G | CA386791484 | PTPN11 | c.1027C>G (p.Arg343Gly) c.913C>G (p.Arg305Gly) c.19C>G (p.Arg7Gly) c.1024C>G (p.Arg342Gly) | |
| 12 | g.112477950C>T | CA386791486 | PTPN11 | c.1027C>T (p.Arg343Trp) c.913C>T (p.Arg305Trp) c.19C>T (p.Arg7Trp) c.1024C>T (p.Arg342Trp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112477951G>A | CA297648 | PTPN11 | c.1028G>A (p.Arg343Gln) c.914G>A (p.Arg305Gln) c.20G>A (p.Arg7Gln) c.1025G>A (p.Arg342Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.112477951G>C | CA386791489 | PTPN11 | c.1028G>C (p.Arg343Pro) c.914G>C (p.Arg305Pro) c.20G>C (p.Arg7Pro) c.1025G>C (p.Arg342Pro) | |
| 12 | g.112477951G= | CA2063775970 | PTPN11 | c.1028G= (p.Arg343=) c.914G= (p.Arg305=) c.20G= (p.Arg7=) c.1025G= (p.Arg342=) | |
| 12 | g.112477951G>T | CA386791490 | PTPN11 | c.1028G>T (p.Arg343Leu) c.914G>T (p.Arg305Leu) c.20G>T (p.Arg7Leu) c.1025G>T (p.Arg342Leu) | gnomAD v4 |
| 12 | g.112477952G>A | CA481887988 | PTPN11 | c.1029G>A (p.Arg343=) c.915G>A (p.Arg305=) c.21G>A (p.Arg7=) c.1026G>A (p.Arg342=) | |
| 12 | g.112477952G>C | CA481887989 | PTPN11 | c.1029G>C (p.Arg343=) c.915G>C (p.Arg305=) c.21G>C (p.Arg7=) c.1026G>C (p.Arg342=) | |
| 12 | g.112477952G>T | CA481887991 | PTPN11 | c.1029G>T (p.Arg343=) c.915G>T (p.Arg305=) c.21G>T (p.Arg7=) c.1026G>T (p.Arg342=) | |
| 12 | g.112477953A>C | CA386791492 | PTPN11 | c.1030A>C (p.Met344Leu) c.916A>C (p.Met306Leu) c.22A>C (p.Met8Leu) c.1027A>C (p.Met343Leu) | dbSNP |
| 12 | g.112477953A>G | CA386791493 | PTPN11 | c.1030A>G (p.Met344Val) c.916A>G (p.Met306Val) c.22A>G (p.Met8Val) c.1027A>G (p.Met343Val) | dbSNP |
| 12 | g.112477953A>T | CA386791495 | PTPN11 | c.1030A>T (p.Met344Leu) c.916A>T (p.Met306Leu) c.22A>T (p.Met8Leu) c.1027A>T (p.Met343Leu) | dbSNP gnomAD v4 |
| 12 | g.112477954T>A | CA386791497 | PTPN11 | c.1031T>A (p.Met344Lys) c.917T>A (p.Met306Lys) c.23T>A (p.Met8Lys) c.1028T>A (p.Met343Lys) | |
| 12 | g.112477954T>C | CA386791499 | PTPN11 | c.1031T>C (p.Met344Thr) c.917T>C (p.Met306Thr) c.23T>C (p.Met8Thr) c.1028T>C (p.Met343Thr) | |
| 12 | g.112477954T>G | CA386791500 | PTPN11 | c.1031T>G (p.Met344Arg) c.917T>G (p.Met306Arg) c.23T>G (p.Met8Arg) c.1028T>G (p.Met343Arg) | |
| 12 | g.112477955G>A | CA386791503 | PTPN11 | c.1032G>A (p.Met344Ile) c.918G>A (p.Met306Ile) c.24G>A (p.Met8Ile) c.1029G>A (p.Met343Ile) | ClinVar dbSNP |
| 12 | g.112477955G>C | CA386791504 | PTPN11 | c.1032G>C (p.Met344Ile) c.918G>C (p.Met306Ile) c.24G>C (p.Met8Ile) c.1029G>C (p.Met343Ile) | |
| 12 | g.112477955G= | CA2063775971 | PTPN11 | c.1032G= (p.Met344=) c.918G= (p.Met306=) c.24G= (p.Met8=) c.1029G= (p.Met343=) | |
| 12 | g.112477955G>T | CA386791506 | PTPN11 | c.1032G>T (p.Met344Ile) c.918G>T (p.Met306Ile) c.24G>T (p.Met8Ile) c.1029G>T (p.Met343Ile) | |
| 12 | g.112477956G>A | CA386791508 | PTPN11 | c.1033G>A (p.Val345Met) c.919G>A (p.Val307Met) c.25G>A (p.Val9Met) c.1030G>A (p.Val344Met) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112477956G>C | CA386791511 | PTPN11 | c.1033G>C (p.Val345Leu) c.919G>C (p.Val307Leu) c.25G>C (p.Val9Leu) c.1030G>C (p.Val344Leu) | |
| 12 | g.112477956G= | CA2063775972 | PTPN11 | c.1033G= (p.Val345=) c.919G= (p.Val307=) c.25G= (p.Val9=) c.1030G= (p.Val344=) | |
| 12 | g.112477956G>T | CA386791510 | PTPN11 | c.1033G>T (p.Val345Leu) c.919G>T (p.Val307Leu) c.25G>T (p.Val9Leu) c.1030G>T (p.Val344Leu) | |
| 12 | g.112477957T>A | CA386791514 | PTPN11 | c.1034T>A (p.Val345Glu) c.920T>A (p.Val307Glu) c.26T>A (p.Val9Glu) c.1031T>A (p.Val344Glu) | |
| 12 | g.112477957T>C | CA386791515 | PTPN11 | c.1034T>C (p.Val345Ala) c.920T>C (p.Val307Ala) c.26T>C (p.Val9Ala) c.1031T>C (p.Val344Ala) | |
| 12 | g.112477957T>G | CA386791517 | PTPN11 | c.1034T>G (p.Val345Gly) c.920T>G (p.Val307Gly) c.26T>G (p.Val9Gly) c.1031T>G (p.Val344Gly) | |
| 12 | g.112477958G>A | CA481888001 | PTPN11 | c.1035G>A (p.Val345=) c.921G>A (p.Val307=) c.27G>A (p.Val9=) c.1032G>A (p.Val344=) | dbSNP |
| 12 | g.112477958G>C | CA481888003 | PTPN11 | c.1035G>C (p.Val345=) c.921G>C (p.Val307=) c.27G>C (p.Val9=) c.1032G>C (p.Val344=) | gnomAD v4 |
| 12 | g.112477958G>T | CA481888004 | PTPN11 | c.1035G>T (p.Val345=) c.921G>T (p.Val307=) c.27G>T (p.Val9=) c.1032G>T (p.Val344=) | |
| 12 | g.112477959T>A | CA386791519 | PTPN11 | c.1036T>A (p.Phe346Ile) c.922T>A (p.Phe308Ile) c.28T>A (p.Phe10Ile) c.1033T>A (p.Phe345Ile) | |
| 12 | g.112477959T>C | CA386791521 | PTPN11 | c.1036T>C (p.Phe346Leu) c.922T>C (p.Phe308Leu) c.28T>C (p.Phe10Leu) c.1033T>C (p.Phe345Leu) | |
| 12 | g.112477959T>G | CA386791522 | PTPN11 | c.1036T>G (p.Phe346Val) c.922T>G (p.Phe308Val) c.28T>G (p.Phe10Val) c.1033T>G (p.Phe345Val) | |
| 12 | g.112477960T>A | CA386791524 | PTPN11 | c.1037T>A (p.Phe346Tyr) c.923T>A (p.Phe308Tyr) c.29T>A (p.Phe10Tyr) c.1034T>A (p.Phe345Tyr) | |
| 12 | g.112477960T>C | CA386791526 | PTPN11 | c.1037T>C (p.Phe346Ser) c.923T>C (p.Phe308Ser) c.29T>C (p.Phe10Ser) c.1034T>C (p.Phe345Ser) | |
| 12 | g.112477960T>G | CA386791527 | PTPN11 | c.1037T>G (p.Phe346Cys) c.923T>G (p.Phe308Cys) c.29T>G (p.Phe10Cys) c.1034T>G (p.Phe345Cys) | |
| 12 | g.112477961C>A | CA386791529 | PTPN11 | c.1038C>A (p.Phe346Leu) c.924C>A (p.Phe308Leu) c.30C>A (p.Phe10Leu) c.1035C>A (p.Phe345Leu) | |
| 12 | g.112477961C>G | CA386791531 | PTPN11 | c.1038C>G (p.Phe346Leu) c.924C>G (p.Phe308Leu) c.30C>G (p.Phe10Leu) c.1035C>G (p.Phe345Leu) | |
| 12 | g.112477961C>T | CA481888008 | PTPN11 | c.1038C>T (p.Phe346=) c.924C>T (p.Phe308=) c.30C>T (p.Phe10=) c.1035C>T (p.Phe345=) | |
| 12 | g.112477962C>A | CA386791536 | PTPN11 | c.1039C>A (p.Gln347Lys) c.925C>A (p.Gln309Lys) c.31C>A (p.Gln11Lys) c.1036C>A (p.Gln346Lys) | ClinVar dbSNP |
| 12 | g.112477962C= | CA2063775973 | PTPN11 | c.1039C= (p.Gln347=) c.925C= (p.Gln309=) c.31C= (p.Gln11=) c.1036C= (p.Gln346=) | |
| 12 | g.112477962C>G | CA386791535 | PTPN11 | c.1039C>G (p.Gln347Glu) c.925C>G (p.Gln309Glu) c.31C>G (p.Gln11Glu) c.1036C>G (p.Gln346Glu) | |
| 12 | g.112477962C>T | CA386791533 | PTPN11 | c.1039C>T (p.Gln347Ter) c.925C>T (p.Gln309Ter) c.31C>T (p.Gln11Ter) c.1036C>T (p.Gln346Ter) | |
| 12 | g.112477963A= | CA2063775974 | PTPN11 | c.1040A= (p.Gln347=) c.926A= (p.Gln309=) c.32A= (p.Gln11=) c.1037A= (p.Gln346=) | |
| 12 | g.112477963A>C | CA386791538 | PTPN11 | c.1040A>C (p.Gln347Pro) c.926A>C (p.Gln309Pro) c.32A>C (p.Gln11Pro) c.1037A>C (p.Gln346Pro) | |
| 12 | g.112477963A>G | CA386791539 | PTPN11 | c.1040A>G (p.Gln347Arg) c.926A>G (p.Gln309Arg) c.32A>G (p.Gln11Arg) c.1037A>G (p.Gln346Arg) | ClinVar dbSNP |
| 12 | g.112477963A>T | CA386791541 | PTPN11 | c.1040A>T (p.Gln347Leu) c.926A>T (p.Gln309Leu) c.32A>T (p.Gln11Leu) c.1037A>T (p.Gln346Leu) | |
| 12 | g.112477964A= | CA2063775975 | PTPN11 | c.1041A= (p.Gln347=) c.927A= (p.Gln309=) c.33A= (p.Gln11=) c.1038A= (p.Gln346=) | |
| 12 | g.112477964A>C | CA386791544 | PTPN11 | c.1041A>C (p.Gln347His) c.927A>C (p.Gln309His) c.33A>C (p.Gln11His) c.1038A>C (p.Gln346His) | |
| 12 | g.112477964A>G | CA6798702 | PTPN11 | c.1041A>G (p.Gln347=) c.927A>G (p.Gln309=) c.33A>G (p.Gln11=) c.1038A>G (p.Gln346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112477964A>T | CA386791545 | PTPN11 | c.1041A>T (p.Gln347His) c.927A>T (p.Gln309His) c.33A>T (p.Gln11His) c.1038A>T (p.Gln346His) | |
| 12 | g.112477965G>A | CA386791547 | PTPN11 | c.1042G>A (p.Glu348Lys) c.928G>A (p.Glu310Lys) c.34G>A (p.Glu12Lys) c.1039G>A (p.Glu347Lys) | |
| 12 | g.112477965G>C | CA386791549 | PTPN11 | c.1042G>C (p.Glu348Gln) c.928G>C (p.Glu310Gln) c.34G>C (p.Glu12Gln) c.1039G>C (p.Glu347Gln) | |
| 12 | g.112477965G>T | CA386791550 | PTPN11 | c.1042G>T (p.Glu348Ter) c.928G>T (p.Glu310Ter) c.34G>T (p.Glu12Ter) c.1039G>T (p.Glu347Ter) | |
| 12 | g.112477966A= | CA2063775976 | PTPN11 | c.1043A= (p.Glu348=) c.929A= (p.Glu310=) c.35A= (p.Glu12=) c.1040A= (p.Glu347=) | |
| 12 | g.112477966A>C | CA386791552 | PTPN11 | c.1043A>C (p.Glu348Ala) c.929A>C (p.Glu310Ala) c.35A>C (p.Glu12Ala) c.1040A>C (p.Glu347Ala) | |
| 12 | g.112477966A>G | CA386791554 | PTPN11 | c.1043A>G (p.Glu348Gly) c.929A>G (p.Glu310Gly) c.35A>G (p.Glu12Gly) c.1040A>G (p.Glu347Gly) | gnomAD v4 |
| 12 | g.112477966A>T | CA386791556 | PTPN11 | c.1043A>T (p.Glu348Val) c.929A>T (p.Glu310Val) c.35A>T (p.Glu12Val) c.1040A>T (p.Glu347Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112477967A>C | CA386791560 | PTPN11 | c.1044A>C (p.Glu348Asp) c.930A>C (p.Glu310Asp) c.36A>C (p.Glu12Asp) c.1041A>C (p.Glu347Asp) | |
| 12 | g.112477967A>G | CA481888013 | PTPN11 | c.1044A>G (p.Glu348=) c.930A>G (p.Glu310=) c.36A>G (p.Glu12=) c.1041A>G (p.Glu347=) | |
| 12 | g.112477967A>T | CA386791558 | PTPN11 | c.1044A>T (p.Glu348Asp) c.930A>T (p.Glu310Asp) c.36A>T (p.Glu12Asp) c.1041A>T (p.Glu347Asp) | |
| 12 | g.112477968A= | CA2063775977 | PTPN11 | c.1045A= (p.Asn349=) c.931A= (p.Asn311=) c.37A= (p.Asn13=) c.1042A= (p.Asn348=) | |
| 12 | g.112477968A>C | CA386791562 | PTPN11 | c.1045A>C (p.Asn349His) c.931A>C (p.Asn311His) c.37A>C (p.Asn13His) c.1042A>C (p.Asn348His) | |
| 12 | g.112477968A>G | CA243712035 | PTPN11 | c.1045A>G (p.Asn349Asp) c.931A>G (p.Asn311Asp) c.37A>G (p.Asn13Asp) c.1042A>G (p.Asn348Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112477968A>T | CA386791564 | PTPN11 | c.1045A>T (p.Asn349Tyr) c.931A>T (p.Asn311Tyr) c.37A>T (p.Asn13Tyr) c.1042A>T (p.Asn348Tyr) | |
| 12 | g.112477969A>C | CA386791566 | PTPN11 | c.1046A>C (p.Asn349Thr) c.932A>C (p.Asn311Thr) c.38A>C (p.Asn13Thr) c.1043A>C (p.Asn348Thr) | |
| 12 | g.112477969A>G | CA386791568 | PTPN11 | c.1046A>G (p.Asn349Ser) c.932A>G (p.Asn311Ser) c.38A>G (p.Asn13Ser) c.1043A>G (p.Asn348Ser) | |
| 12 | g.112477969A>T | CA386791588 | PTPN11 | c.1046A>T (p.Asn349Ile) c.932A>T (p.Asn311Ile) c.38A>T (p.Asn13Ile) c.1043A>T (p.Asn348Ile) | |
| 12 | g.112477970C>A | CA386791590 | PTPN11 | c.1047C>A (p.Asn349Lys) c.933C>A (p.Asn311Lys) c.39C>A (p.Asn13Lys) c.1044C>A (p.Asn348Lys) | |
| 12 | g.112477970C= | CA2063775978 | PTPN11 | c.1047C= (p.Asn349=) c.933C= (p.Asn311=) c.39C= (p.Asn13=) c.1044C= (p.Asn348=) | |
| 12 | g.112477970C>G | CA386791591 | PTPN11 | c.1047C>G (p.Asn349Lys) c.933C>G (p.Asn311Lys) c.39C>G (p.Asn13Lys) c.1044C>G (p.Asn348Lys) | |
| 12 | g.112477970C>T | CA481888023 | PTPN11 | c.1047C>T (p.Asn349=) c.933C>T (p.Asn311=) c.39C>T (p.Asn13=) c.1044C>T (p.Asn348=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112477971T>A | CA386791593 | PTPN11 | c.1048T>A (p.Ser350Thr) c.934T>A (p.Ser312Thr) c.40T>A (p.Ser14Thr) c.1045T>A (p.Ser349Thr) | |
| 12 | g.112477971T>C | CA386791596 | PTPN11 | c.1048T>C (p.Ser350Pro) c.934T>C (p.Ser312Pro) c.40T>C (p.Ser14Pro) c.1045T>C (p.Ser349Pro) | |
| 12 | g.112477971T>G | CA282111 | PTPN11 | c.1048T>G (p.Ser350Ala) c.934T>G (p.Ser312Ala) c.40T>G (p.Ser14Ala) c.1045T>G (p.Ser349Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112477971T= | CA2063775979 | PTPN11 | c.1048T= (p.Ser350=) c.934T= (p.Ser312=) c.40T= (p.Ser14=) c.1045T= (p.Ser349=) | |
| 12 | g.112477972C>A | CA386791599 | PTPN11 | c.1049C>A (p.Ser350Tyr) c.935C>A (p.Ser312Tyr) c.41C>A (p.Ser14Tyr) c.1046C>A (p.Ser349Tyr) | ClinVar dbSNP |
| 12 | g.112477972C>G | CA386791603 | PTPN11 | c.1049C>G (p.Ser350Cys) c.935C>G (p.Ser312Cys) c.41C>G (p.Ser14Cys) c.1046C>G (p.Ser349Cys) | |
| 12 | g.112477972C>T | CA386791604 | PTPN11 | c.1049C>T (p.Ser350Phe) c.935C>T (p.Ser312Phe) c.41C>T (p.Ser14Phe) c.1046C>T (p.Ser349Phe) | |
| 12 | g.112477973C>A | CA481888030 | PTPN11 | c.1050C>A (p.Ser350=) c.936C>A (p.Ser312=) c.42C>A (p.Ser14=) c.1047C>A (p.Ser349=) | |
| 12 | g.112477973C>G | CA481888031 | PTPN11 | c.1050C>G (p.Ser350=) c.936C>G (p.Ser312=) c.42C>G (p.Ser14=) c.1047C>G (p.Ser349=) | |
| 12 | g.112477973C>T | CA481888032 | PTPN11 | c.1050C>T (p.Ser350=) c.936C>T (p.Ser312=) c.42C>T (p.Ser14=) c.1047C>T (p.Ser349=) | gnomAD v4 |
| 12 | g.112477974C>A | CA481888036 | PTPN11 | c.1051C>A (p.Arg351=) c.937C>A (p.Arg313=) c.43C>A (p.Arg15=) c.1048C>A (p.Arg350=) | dbSNP |
| 12 | g.112477974C= | CA2063775980 | PTPN11 | c.1051C= (p.Arg351=) c.937C= (p.Arg313=) c.43C= (p.Arg15=) c.1048C= (p.Arg350=) | |
| 12 | g.112477974C>G | CA386791607 | PTPN11 | c.1051C>G (p.Arg351Gly) c.937C>G (p.Arg313Gly) c.43C>G (p.Arg15Gly) c.1048C>G (p.Arg350Gly) | |
| 12 | g.112477974C>T | CA16042873 | PTPN11 | c.1051C>T (p.Arg351Ter) c.937C>T (p.Arg313Ter) c.43C>T (p.Arg15Ter) c.1048C>T (p.Arg350Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112477975G>A | CA282114 | PTPN11 | c.1052G>A (p.Arg351Gln) c.938G>A (p.Arg313Gln) c.44G>A (p.Arg15Gln) c.1049G>A (p.Arg350Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112477975G>C | CA386791609 | PTPN11 | c.1052G>C (p.Arg351Pro) c.938G>C (p.Arg313Pro) c.44G>C (p.Arg15Pro) c.1049G>C (p.Arg350Pro) | dbSNP gnomAD v4 |
| 12 | g.112477975G= | CA2063775981 | PTPN11 | c.1052G= (p.Arg351=) c.938G= (p.Arg313=) c.44G= (p.Arg15=) c.1049G= (p.Arg350=) | |
| 12 | g.112477975G>T | CA386791608 | PTPN11 | c.1052G>T (p.Arg351Leu) c.938G>T (p.Arg313Leu) c.44G>T (p.Arg15Leu) c.1049G>T (p.Arg350Leu) | dbSNP |
| 12 | g.112477976A= | CA2063775982 | PTPN11 | c.1053A= (p.Arg351=) c.939A= (p.Arg313=) c.45A= (p.Arg15=) c.1050A= (p.Arg350=) | |
| 12 | g.112477976A>C | CA481888039 | PTPN11 | c.1053A>C (p.Arg351=) c.939A>C (p.Arg313=) c.45A>C (p.Arg15=) c.1050A>C (p.Arg350=) | gnomAD v4 |
| 12 | g.112477976A>G | CA243712046 | PTPN11 | c.1053A>G (p.Arg351=) c.939A>G (p.Arg313=) c.45A>G (p.Arg15=) c.1050A>G (p.Arg350=) | dbSNP gnomAD v4 |
| 12 | g.112477976A>T | CA481888038 | PTPN11 | c.1053A>T (p.Arg351=) c.939A>T (p.Arg313=) c.45A>T (p.Arg15=) c.1050A>T (p.Arg350=) | |
| 12 | g.112477977G>A | CA386791613 | PTPN11 | c.1054G>A (p.Val352Met) c.940G>A (p.Val314Met) c.46G>A (p.Val16Met) c.1051G>A (p.Val351Met) | |
| 12 | g.112477977G>C | CA6798703 | PTPN11 | c.1054G>C (p.Val352Leu) c.940G>C (p.Val314Leu) c.46G>C (p.Val16Leu) c.1051G>C (p.Val351Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112477977G= | CA2063775983 | PTPN11 | c.1054G= (p.Val352=) c.940G= (p.Val314=) c.46G= (p.Val16=) c.1051G= (p.Val351=) | |
| 12 | g.112477977G>T | CA386791616 | PTPN11 | c.1054G>T (p.Val352Leu) c.940G>T (p.Val314Leu) c.46G>T (p.Val16Leu) c.1051G>T (p.Val351Leu) | |
| 12 | g.112477978T>A | CA386791618 | PTPN11 | c.1055T>A (p.Val352Glu) c.941T>A (p.Val314Glu) c.47T>A (p.Val16Glu) c.1052T>A (p.Val351Glu) | |
| 12 | g.112477978T>C | CA386791620 | PTPN11 | c.1055T>C (p.Val352Ala) c.941T>C (p.Val314Ala) c.47T>C (p.Val16Ala) c.1052T>C (p.Val351Ala) | |
| 12 | g.112477978T>G | CA386791622 | PTPN11 | c.1055T>G (p.Val352Gly) c.941T>G (p.Val314Gly) c.47T>G (p.Val16Gly) c.1052T>G (p.Val351Gly) | |
| 12 | g.112477979G>A | CA481888044 | PTPN11 | c.1056G>A (p.Val352=) c.942G>A (p.Val314=) c.48G>A (p.Val16=) c.1053G>A (p.Val351=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112477979G>C | CA481888045 | PTPN11 | c.1056G>C (p.Val352=) c.942G>C (p.Val314=) c.48G>C (p.Val16=) c.1053G>C (p.Val351=) | |
| 12 | g.112477979G= | CA2063775984 | PTPN11 | c.1056G= (p.Val352=) c.942G= (p.Val314=) c.48G= (p.Val16=) c.1053G= (p.Val351=) | |
| 12 | g.112477979G>T | CA481888046 | PTPN11 | c.1056G>T (p.Val352=) c.942G>T (p.Val314=) c.48G>T (p.Val16=) c.1053G>T (p.Val351=) | |
| 12 | g.112477980A= | CA2063775985 | PTPN11 | c.1057A= (p.Ile353=) c.943A= (p.Ile315=) c.49A= (p.Ile17=) c.1054A= (p.Ile352=) | |
| 12 | g.112477980A>C | CA6798704 | PTPN11 | c.1057A>C (p.Ile353Leu) c.943A>C (p.Ile315Leu) c.49A>C (p.Ile17Leu) c.1054A>C (p.Ile352Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112477980A>G | CA386791625 | PTPN11 | c.1057A>G (p.Ile353Val) c.943A>G (p.Ile315Val) c.49A>G (p.Ile17Val) c.1054A>G (p.Ile352Val) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112477980A>T | CA386791626 | PTPN11 | c.1057A>T (p.Ile353Phe) c.943A>T (p.Ile315Phe) c.49A>T (p.Ile17Phe) c.1054A>T (p.Ile352Phe) | |
| 12 | g.112477981T>A | CA386791630 | PTPN11 | c.1058T>A (p.Ile353Asn) c.944T>A (p.Ile315Asn) c.50T>A (p.Ile17Asn) c.1055T>A (p.Ile352Asn) | |
| 12 | g.112477981T>C | CA386791631 | PTPN11 | c.1058T>C (p.Ile353Thr) c.944T>C (p.Ile315Thr) c.50T>C (p.Ile17Thr) c.1055T>C (p.Ile352Thr) | |
| 12 | g.112477981T>G | CA386791628 | PTPN11 | c.1058T>G (p.Ile353Ser) c.944T>G (p.Ile315Ser) c.50T>G (p.Ile17Ser) c.1055T>G (p.Ile352Ser) | |
| 12 | g.112477982T>A | CA481888048 | PTPN11 | c.1059T>A (p.Ile353=) c.945T>A (p.Ile315=) c.51T>A (p.Ile17=) c.1056T>A (p.Ile352=) | |
| 12 | g.112477982T>C | CA481888047 | PTPN11 | c.1059T>C (p.Ile353=) c.945T>C (p.Ile315=) c.51T>C (p.Ile17=) c.1056T>C (p.Ile352=) | |
| 12 | g.112477982T>G | CA386791633 | PTPN11 | c.1059T>G (p.Ile353Met) c.945T>G (p.Ile315Met) c.51T>G (p.Ile17Met) c.1056T>G (p.Ile352Met) | |
| 12 | g.112477983G>A | CA386791637 | PTPN11 | c.1060G>A (p.Val354Ile) c.946G>A (p.Val316Ile) c.52G>A (p.Val18Ile) c.1057G>A (p.Val353Ile) | |
| 12 | g.112477983G>C | CA386791638 | PTPN11 | c.1060G>C (p.Val354Leu) c.946G>C (p.Val316Leu) c.52G>C (p.Val18Leu) c.1057G>C (p.Val353Leu) | |
| 12 | g.112477983G>T | CA386791640 | PTPN11 | c.1060G>T (p.Val354Phe) c.946G>T (p.Val316Phe) c.52G>T (p.Val18Phe) c.1057G>T (p.Val353Phe) | |
| 12 | g.112477984T>A | CA386791642 | PTPN11 | c.1061T>A (p.Val354Asp) c.947T>A (p.Val316Asp) c.53T>A (p.Val18Asp) c.1058T>A (p.Val353Asp) | |
| 12 | g.112477984T>C | CA386791644 | PTPN11 | c.1061T>C (p.Val354Ala) c.947T>C (p.Val316Ala) c.53T>C (p.Val18Ala) c.1058T>C (p.Val353Ala) | |
| 12 | g.112477984T>G | CA386791645 | PTPN11 | c.1061T>G (p.Val354Gly) c.947T>G (p.Val316Gly) c.53T>G (p.Val18Gly) c.1058T>G (p.Val353Gly) | |
| 12 | g.112477985C>A | CA481888049 | PTPN11 | c.1062C>A (p.Val354=) c.948C>A (p.Val316=) c.54C>A (p.Val18=) c.1059C>A (p.Val353=) | dbSNP |
| 12 | g.112477985C= | CA2063775986 | PTPN11 | c.1062C= (p.Val354=) c.948C= (p.Val316=) c.54C= (p.Val18=) c.1059C= (p.Val353=) | |
| 12 | g.112477985C>G | CA481888050 | PTPN11 | c.1062C>G (p.Val354=) c.948C>G (p.Val316=) c.54C>G (p.Val18=) c.1059C>G (p.Val353=) | |
| 12 | g.112477985C>T | CA481888051 | PTPN11 | c.1062C>T (p.Val354=) c.948C>T (p.Val316=) c.54C>T (p.Val18=) c.1059C>T (p.Val353=) | dbSNP |
| 12 | g.112477986A>C | CA386791648 | PTPN11 | c.1063A>C (p.Met355Leu) c.949A>C (p.Met317Leu) c.55A>C (p.Met19Leu) c.1060A>C (p.Met354Leu) | |
| 12 | g.112477986A>G | CA386791649 | PTPN11 | c.1063A>G (p.Met355Val) c.949A>G (p.Met317Val) c.55A>G (p.Met19Val) c.1060A>G (p.Met354Val) | |
| 12 | g.112477986A>T | CA386791651 | PTPN11 | c.1063A>T (p.Met355Leu) c.949A>T (p.Met317Leu) c.55A>T (p.Met19Leu) c.1060A>T (p.Met354Leu) | |
| 12 | g.112477987T>A | CA386791653 | PTPN11 | c.1064T>A (p.Met355Lys) c.950T>A (p.Met317Lys) c.56T>A (p.Met19Lys) c.1061T>A (p.Met354Lys) | |
| 12 | g.112477987T>C | CA386791654 | PTPN11 | c.1064T>C (p.Met355Thr) c.950T>C (p.Met317Thr) c.56T>C (p.Met19Thr) c.1061T>C (p.Met354Thr) | dbSNP COSMIC |
| 12 | g.112477987T>G | CA386791655 | PTPN11 | c.1064T>G (p.Met355Arg) c.950T>G (p.Met317Arg) c.56T>G (p.Met19Arg) c.1061T>G (p.Met354Arg) | |
| 12 | g.112477987T= | CA2063775987 | PTPN11 | c.1064T= (p.Met355=) c.950T= (p.Met317=) c.56T= (p.Met19=) c.1061T= (p.Met354=) | |
| 12 | g.112477988G>A | CA386791659 | PTPN11 | c.1065G>A (p.Met355Ile) c.951G>A (p.Met317Ile) c.57G>A (p.Met19Ile) c.1062G>A (p.Met354Ile) | gnomAD v4 |
| 12 | g.112477988G>C | CA386791657 | PTPN11 | c.1065G>C (p.Met355Ile) c.951G>C (p.Met317Ile) c.57G>C (p.Met19Ile) c.1062G>C (p.Met354Ile) | |
| 12 | g.112477988G>T | CA386791656 | PTPN11 | c.1065G>T (p.Met355Ile) c.951G>T (p.Met317Ile) c.57G>T (p.Met19Ile) c.1062G>T (p.Met354Ile) | |
| 12 | g.112477989A>C | CA386791661 | PTPN11 | c.1066A>C (p.Thr356Pro) c.952A>C (p.Thr318Pro) c.58A>C (p.Thr20Pro) c.1063A>C (p.Thr355Pro) | |
| 12 | g.112477989A>G | CA386791663 | PTPN11 | c.1066A>G (p.Thr356Ala) c.952A>G (p.Thr318Ala) c.58A>G (p.Thr20Ala) c.1063A>G (p.Thr355Ala) | |
| 12 | g.112477989A>T | CA386791664 | PTPN11 | c.1066A>T (p.Thr356Ser) c.952A>T (p.Thr318Ser) c.58A>T (p.Thr20Ser) c.1063A>T (p.Thr355Ser) | |
| 12 | g.112477990C>A | CA386791666 | PTPN11 | c.1067C>A (p.Thr356Lys) c.953C>A (p.Thr318Lys) c.59C>A (p.Thr20Lys) c.1064C>A (p.Thr355Lys) | |
| 12 | g.112477990C>G | CA386791668 | PTPN11 | c.1067C>G (p.Thr356Arg) c.953C>G (p.Thr318Arg) c.59C>G (p.Thr20Arg) c.1064C>G (p.Thr355Arg) | |
| 12 | g.112477990C>T | CA386791669 | PTPN11 | c.1067C>T (p.Thr356Ile) c.953C>T (p.Thr318Ile) c.59C>T (p.Thr20Ile) c.1064C>T (p.Thr355Ile) | |
| 12 | g.112477991A>C | CA481888052 | PTPN11 | c.1068A>C (p.Thr356=) c.954A>C (p.Thr318=) c.60A>C (p.Thr20=) c.1065A>C (p.Thr355=) | |
| 12 | g.112477991A>G | CA481888053 | PTPN11 | c.1068A>G (p.Thr356=) c.954A>G (p.Thr318=) c.60A>G (p.Thr20=) c.1065A>G (p.Thr355=) | gnomAD v4 |
| 12 | g.112477991A>T | CA481888054 | PTPN11 | c.1068A>T (p.Thr356=) c.954A>T (p.Thr318=) c.60A>T (p.Thr20=) c.1065A>T (p.Thr355=) | |
| 12 | g.112477992A= | CA2063775988 | PTPN11 | c.1069A= (p.Thr357=) c.955A= (p.Thr319=) c.61A= (p.Thr21=) c.1066A= (p.Thr356=) | |
| 12 | g.112477992A>C | CA386791672 | PTPN11 | c.1069A>C (p.Thr357Pro) c.955A>C (p.Thr319Pro) c.61A>C (p.Thr21Pro) c.1066A>C (p.Thr356Pro) | |
| 12 | g.112477992A>G | CA6798705 | PTPN11 | c.1069A>G (p.Thr357Ala) c.955A>G (p.Thr319Ala) c.61A>G (p.Thr21Ala) c.1066A>G (p.Thr356Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.112477992A>T | CA386791674 | PTPN11 | c.1069A>T (p.Thr357Ser) c.955A>T (p.Thr319Ser) c.61A>T (p.Thr21Ser) c.1066A>T (p.Thr356Ser) | |
| 12 | g.112477993del | CA2573147995 | PTPN11 | c.1070del (p.Thr357ArgfsTer21) c.956del (p.Thr319ArgfsTer21) c.62del (p.Thr21ArgfsTer21) c.1067del (p.Thr356ArgfsTer21) | ClinVar dbSNP |
| 12 | g.112477993C>A | CA386791675 | PTPN11 | c.1070C>A (p.Thr357Lys) c.956C>A (p.Thr319Lys) c.62C>A (p.Thr21Lys) c.1067C>A (p.Thr356Lys) | |
| 12 | g.112477993C>G | CA386791676 | PTPN11 | c.1070C>G (p.Thr357Arg) c.956C>G (p.Thr319Arg) c.62C>G (p.Thr21Arg) c.1067C>G (p.Thr356Arg) | dbSNP |
| 12 | g.112477993C>T | CA386791678 | PTPN11 | c.1070C>T (p.Thr357Met) c.956C>T (p.Thr319Met) c.62C>T (p.Thr21Met) c.1067C>T (p.Thr356Met) | dbSNP gnomAD v4 |
| 12 | g.112477994G>A | CA6798706 | PTPN11 | c.1071G>A (p.Thr357=) c.957G>A (p.Thr319=) c.63G>A (p.Thr21=) c.1068G>A (p.Thr356=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112477994G>C | CA481888055 | PTPN11 | c.1071G>C (p.Thr357=) c.957G>C (p.Thr319=) c.63G>C (p.Thr21=) c.1068G>C (p.Thr356=) | ClinVar dbSNP |
| 12 | g.112477994G= | CA2063775989 | PTPN11 | c.1071G= (p.Thr357=) c.957G= (p.Thr319=) c.63G= (p.Thr21=) c.1068G= (p.Thr356=) | |
| 12 | g.112477994G>T | CA481888056 | PTPN11 | c.1071G>T (p.Thr357=) c.957G>T (p.Thr319=) c.63G>T (p.Thr21=) c.1068G>T (p.Thr356=) | |
| 12 | g.112477995A>C | CA386791681 | PTPN11 | c.1072A>C (p.Lys358Gln) c.958A>C (p.Lys320Gln) c.64A>C (p.Lys22Gln) c.1069A>C (p.Lys357Gln) | |
| 12 | g.112477995A>G | CA386791686 | PTPN11 | c.1072A>G (p.Lys358Glu) c.958A>G (p.Lys320Glu) c.64A>G (p.Lys22Glu) c.1069A>G (p.Lys357Glu) | |
| 12 | g.112477995A>T | CA386791683 | PTPN11 | c.1072A>T (p.Lys358Ter) c.958A>T (p.Lys320Ter) c.64A>T (p.Lys22Ter) c.1069A>T (p.Lys357Ter) | |
| 12 | g.112477996A>C | CA386791688 | PTPN11 | c.1073A>C (p.Lys358Thr) c.959A>C (p.Lys320Thr) c.65A>C (p.Lys22Thr) c.1070A>C (p.Lys357Thr) | |
| 12 | g.112477996A>G | CA386791691 | PTPN11 | c.1073A>G (p.Lys358Arg) c.959A>G (p.Lys320Arg) c.65A>G (p.Lys22Arg) c.1070A>G (p.Lys357Arg) | |
| 12 | g.112477996A>T | CA386791689 | PTPN11 | c.1073A>T (p.Lys358Ile) c.959A>T (p.Lys320Ile) c.65A>T (p.Lys22Ile) c.1070A>T (p.Lys357Ile) | |
| 12 | g.112477997A>C | CA386791693 | PTPN11 | c.1074A>C (p.Lys358Asn) c.960A>C (p.Lys320Asn) c.66A>C (p.Lys22Asn) c.1071A>C (p.Lys357Asn) | |
| 12 | g.112477997A>G | CA481888057 | PTPN11 | c.1074A>G (p.Lys358=) c.960A>G (p.Lys320=) c.66A>G (p.Lys22=) c.1071A>G (p.Lys357=) | |
| 12 | g.112477997A>T | CA386791694 | PTPN11 | c.1074A>T (p.Lys358Asn) c.960A>T (p.Lys320Asn) c.66A>T (p.Lys22Asn) c.1071A>T (p.Lys357Asn) | |
| 12 | g.112477998G>A | CA386791697 | PTPN11 | c.1075G>A (p.Glu359Lys) c.961G>A (p.Glu321Lys) c.67G>A (p.Glu23Lys) c.1072G>A (p.Glu358Lys) | |
| 12 | g.112477998G>C | CA386791701 | PTPN11 | c.1075G>C (p.Glu359Gln) c.961G>C (p.Glu321Gln) c.67G>C (p.Glu23Gln) c.1072G>C (p.Glu358Gln) | gnomAD v4 |
| 12 | g.112477998G>T | CA386791699 | PTPN11 | c.1075G>T (p.Glu359Ter) c.961G>T (p.Glu321Ter) c.67G>T (p.Glu23Ter) c.1072G>T (p.Glu358Ter) | ClinVar dbSNP |
| 12 | g.112477999A>C | CA386791702 | PTPN11 | c.1076A>C (p.Glu359Ala) c.962A>C (p.Glu321Ala) c.68A>C (p.Glu23Ala) c.1073A>C (p.Glu358Ala) | |
| 12 | g.112477999A>G | CA386791704 | PTPN11 | c.1076A>G (p.Glu359Gly) c.962A>G (p.Glu321Gly) c.68A>G (p.Glu23Gly) c.1073A>G (p.Glu358Gly) | |
| 12 | g.112477999A>T | CA386791706 | PTPN11 | c.1076A>T (p.Glu359Val) c.962A>T (p.Glu321Val) c.68A>T (p.Glu23Val) c.1073A>T (p.Glu358Val) | |
| 12 | g.112478000A>C | CA386791707 | PTPN11 | c.1077A>C (p.Glu359Asp) c.963A>C (p.Glu321Asp) c.69A>C (p.Glu23Asp) c.1074A>C (p.Glu358Asp) | |
| 12 | g.112478000A>G | CA481888059 | PTPN11 | c.1077A>G (p.Glu359=) c.963A>G (p.Glu321=) c.69A>G (p.Glu23=) c.1074A>G (p.Glu358=) | |
| 12 | g.112478000A>T | CA386791709 | PTPN11 | c.1077A>T (p.Glu359Asp) c.963A>T (p.Glu321Asp) c.69A>T (p.Glu23Asp) c.1074A>T (p.Glu358Asp) | |
| 12 | g.112478001G>A | CA386791710 | PTPN11 | c.1078G>A (p.Val360Met) c.964G>A (p.Val322Met) c.70G>A (p.Val24Met) c.1075G>A (p.Val359Met) | ClinVar |
| 12 | g.112478001G>C | CA386791712 | PTPN11 | c.1078G>C (p.Val360Leu) c.964G>C (p.Val322Leu) c.70G>C (p.Val24Leu) c.1075G>C (p.Val359Leu) | |
| 12 | g.112478001G>T | CA386791714 | PTPN11 | c.1078G>T (p.Val360Leu) c.964G>T (p.Val322Leu) c.70G>T (p.Val24Leu) c.1075G>T (p.Val359Leu) | |
| 12 | g.112478002T>A | CA386791715 | PTPN11 | c.1079T>A (p.Val360Glu) c.965T>A (p.Val322Glu) c.71T>A (p.Val24Glu) c.1076T>A (p.Val359Glu) | |
| 12 | g.112478002T>C | CA386791716 | PTPN11 | c.1079T>C (p.Val360Ala) c.965T>C (p.Val322Ala) c.71T>C (p.Val24Ala) c.1076T>C (p.Val359Ala) | |
| 12 | g.112478002T>G | CA386791718 | PTPN11 | c.1079T>G (p.Val360Gly) c.965T>G (p.Val322Gly) c.71T>G (p.Val24Gly) c.1076T>G (p.Val359Gly) | |
| 12 | g.112478003G>A | CA481888060 | PTPN11 | c.1080G>A (p.Val360=) c.966G>A (p.Val322=) c.72G>A (p.Val24=) c.1077G>A (p.Val359=) | |
| 12 | g.112478003G>C | CA481888061 | PTPN11 | c.1080G>C (p.Val360=) c.966G>C (p.Val322=) c.72G>C (p.Val24=) c.1077G>C (p.Val359=) | |
| 12 | g.112478003G>T | CA481888062 | PTPN11 | c.1080G>T (p.Val360=) c.966G>T (p.Val322=) c.72G>T (p.Val24=) c.1077G>T (p.Val359=) | |
| 12 | g.112478004G>A | CA386791724 | PTPN11 | c.1081G>A (p.Glu361Lys) c.967G>A (p.Glu323Lys) c.73G>A (p.Glu25Lys) c.1078G>A (p.Glu360Lys) | |
| 12 | g.112478004G>C | CA386791722 | PTPN11 | c.1081G>C (p.Glu361Gln) c.967G>C (p.Glu323Gln) c.73G>C (p.Glu25Gln) c.1078G>C (p.Glu360Gln) | dbSNP |
| 12 | g.112478004G= | CA2063775990 | PTPN11 | c.1081G= (p.Glu361=) c.967G= (p.Glu323=) c.73G= (p.Glu25=) c.1078G= (p.Glu360=) | |
| 12 | g.112478004G>T | CA386791720 | PTPN11 | c.1081G>T (p.Glu361Ter) c.967G>T (p.Glu323Ter) c.73G>T (p.Glu25Ter) c.1078G>T (p.Glu360Ter) | |
| 12 | g.112478005A>C | CA386791726 | PTPN11 | c.1082A>C (p.Glu361Ala) c.968A>C (p.Glu323Ala) c.74A>C (p.Glu25Ala) c.1079A>C (p.Glu360Ala) | |
| 12 | g.112478005A>G | CA386791727 | PTPN11 | c.1082A>G (p.Glu361Gly) c.968A>G (p.Glu323Gly) c.74A>G (p.Glu25Gly) c.1079A>G (p.Glu360Gly) | dbSNP |
| 12 | g.112478005A>T | CA386791728 | PTPN11 | c.1082A>T (p.Glu361Val) c.968A>T (p.Glu323Val) c.74A>T (p.Glu25Val) c.1079A>T (p.Glu360Val) | |
| 12 | g.112478006G>A | CA481888063 | PTPN11 | c.1083G>A (p.Glu361=) c.969G>A (p.Glu323=) c.75G>A (p.Glu25=) c.1080G>A (p.Glu360=) | |
| 12 | g.112478006G>C | CA386791730 | PTPN11 | c.1083G>C (p.Glu361Asp) c.969G>C (p.Glu323Asp) c.75G>C (p.Glu25Asp) c.1080G>C (p.Glu360Asp) | |
| 12 | g.112478006G>T | CA386791732 | PTPN11 | c.1083G>T (p.Glu361Asp) c.969G>T (p.Glu323Asp) c.75G>T (p.Glu25Asp) c.1080G>T (p.Glu360Asp) | |
| 12 | g.112478007A>C | CA481888064 | PTPN11 | c.1084A>C (p.Arg362=) c.970A>C (p.Arg324=) c.76A>C (p.Arg26=) c.1081A>C (p.Arg361=) | |
| 12 | g.112478007A>G | CA386791734 | PTPN11 | c.1084A>G (p.Arg362Gly) c.970A>G (p.Arg324Gly) c.76A>G (p.Arg26Gly) c.1081A>G (p.Arg361Gly) | |
| 12 | g.112478007A>T | CA386791735 | PTPN11 | c.1084A>T (p.Arg362Ter) c.970A>T (p.Arg324Ter) c.76A>T (p.Arg26Ter) c.1081A>T (p.Arg361Ter) | |
| 12 | g.112478008G>A | CA386791738 | PTPN11 | c.1085G>A (p.Arg362Lys) c.971G>A (p.Arg324Lys) c.77G>A (p.Arg26Lys) c.1082G>A (p.Arg361Lys) | ClinVar dbSNP |
| 12 | g.112478008G>C | CA386791739 | PTPN11 | c.1085G>C (p.Arg362Thr) c.971G>C (p.Arg324Thr) c.77G>C (p.Arg26Thr) c.1082G>C (p.Arg361Thr) | |
| 12 | g.112478008G>T | CA386791741 | PTPN11 | c.1085G>T (p.Arg362Ile) c.971G>T (p.Arg324Ile) c.77G>T (p.Arg26Ile) c.1082G>T (p.Arg361Ile) | |
| 12 | g.112478009A>C | CA386791743 | PTPN11 | c.1086A>C (p.Arg362Ser) c.972A>C (p.Arg324Ser) c.78A>C (p.Arg26Ser) c.1083A>C (p.Arg361Ser) | |
| 12 | g.112478009A>G | CA481888066 | PTPN11 | c.1086A>G (p.Arg362=) c.972A>G (p.Arg324=) c.78A>G (p.Arg26=) c.1083A>G (p.Arg361=) | ClinVar |
| 12 | g.112478009A>T | CA386791745 | PTPN11 | c.1086A>T (p.Arg362Ser) c.972A>T (p.Arg324Ser) c.78A>T (p.Arg26Ser) c.1083A>T (p.Arg361Ser) | |
| 12 | g.112478010G>A | CA386791750 | PTPN11 | c.1087G>A (p.Gly363Arg) c.973G>A (p.Gly325Arg) c.79G>A (p.Gly27Arg) c.1084G>A (p.Gly362Arg) | dbSNP |
| 12 | g.112478010G>C | CA386791749 | PTPN11 | c.1087G>C (p.Gly363Arg) c.973G>C (p.Gly325Arg) c.79G>C (p.Gly27Arg) c.1084G>C (p.Gly362Arg) | |
| 12 | g.112478010G>T | CA386791747 | PTPN11 | c.1087G>T (p.Gly363Ter) c.973G>T (p.Gly325Ter) c.79G>T (p.Gly27Ter) c.1084G>T (p.Gly362Ter) | |
| 12 | g.112478011G>A | CA386791752 | PTPN11 | c.1088G>A (p.Gly363Glu) c.974G>A (p.Gly325Glu) c.80G>A (p.Gly27Glu) c.1085G>A (p.Gly362Glu) | |
| 12 | g.112478011G>C | CA386791754 | PTPN11 | c.1088G>C (p.Gly363Ala) c.974G>C (p.Gly325Ala) c.80G>C (p.Gly27Ala) c.1085G>C (p.Gly362Ala) | |
| 12 | g.112478011G>T | CA386791756 | PTPN11 | c.1088G>T (p.Gly363Val) c.974G>T (p.Gly325Val) c.80G>T (p.Gly27Val) c.1085G>T (p.Gly362Val) | |
| 12 | g.112478012A= | CA2063775991 | PTPN11 | c.1089A= (p.Gly363=) c.975A= (p.Gly325=) c.81A= (p.Gly27=) c.1086A= (p.Gly362=) | |
| 12 | g.112478012A>C | CA481888070 | PTPN11 | c.1089A>C (p.Gly363=) c.975A>C (p.Gly325=) c.81A>C (p.Gly27=) c.1086A>C (p.Gly362=) | |
| 12 | g.112478012A>G | CA481888071 | PTPN11 | c.1089A>G (p.Gly363=) c.975A>G (p.Gly325=) c.81A>G (p.Gly27=) c.1086A>G (p.Gly362=) | ClinVar dbSNP |
| 12 | g.112478012A>T | CA481888072 | PTPN11 | c.1089A>T (p.Gly363=) c.975A>T (p.Gly325=) c.81A>T (p.Gly27=) c.1086A>T (p.Gly362=) | |
| 12 | g.112478013A>C | CA386791757 | PTPN11 | c.1090A>C (p.Lys364Gln) c.976A>C (p.Lys326Gln) c.82A>C (p.Lys28Gln) c.1087A>C (p.Lys363Gln) | |
| 12 | g.112478013A>G | CA386791758 | PTPN11 | c.1090A>G (p.Lys364Glu) c.976A>G (p.Lys326Glu) c.82A>G (p.Lys28Glu) c.1087A>G (p.Lys363Glu) | |
| 12 | g.112478013A>T | CA386791761 | PTPN11 | c.1090A>T (p.Lys364Ter) c.976A>T (p.Lys326Ter) c.82A>T (p.Lys28Ter) c.1087A>T (p.Lys363Ter) | |
| 12 | g.112478014A= | CA2063775992 | PTPN11 | c.1091A= (p.Lys364=) c.977A= (p.Lys326=) c.83A= (p.Lys28=) c.1088A= (p.Lys363=) | |
| 12 | g.112478014A>C | CA386791765 | PTPN11 | c.1091A>C (p.Lys364Thr) c.977A>C (p.Lys326Thr) c.83A>C (p.Lys28Thr) c.1088A>C (p.Lys363Thr) | |
| 12 | g.112478014A>G | CA243712056 | PTPN11 | c.1091A>G (p.Lys364Arg) c.977A>G (p.Lys326Arg) c.83A>G (p.Lys28Arg) c.1088A>G (p.Lys363Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112478014A>T | CA386791764 | PTPN11 | c.1091A>T (p.Lys364Met) c.977A>T (p.Lys326Met) c.83A>T (p.Lys28Met) c.1088A>T (p.Lys363Met) | COSMIC |
| 12 | g.112478015G>A | CA481888077 | PTPN11 | c.1092G>A (p.Lys364=) c.978G>A (p.Lys326=) c.84G>A (p.Lys28=) c.1089G>A (p.Lys363=) | dbSNP |
| 12 | g.112478015G>C | CA386791767 | PTPN11 | c.1092G>C (p.Lys364Asn) c.978G>C (p.Lys326Asn) c.84G>C (p.Lys28Asn) c.1089G>C (p.Lys363Asn) | |
| 12 | g.112478015G>T | CA386791769 | PTPN11 | c.1092G>T (p.Lys364Asn) c.978G>T (p.Lys326Asn) c.84G>T (p.Lys28Asn) c.1089G>T (p.Lys363Asn) | |
| 12 | g.112478016G>A | CA386791776 | PTPN11 | c.1092+1G>A (n.1092+1G>A) c.978+1G>A (n.978+1G>A) c.84+1G>A (n.84+1G>A) c.1089+1G>A (n.1089+1G>A) | dbSNP |
| 12 | g.112478016G>C | CA386791778 | PTPN11 | c.1092+1G>C (n.1092+1G>C) c.978+1G>C (n.978+1G>C) c.84+1G>C (n.84+1G>C) c.1089+1G>C (n.1089+1G>C) | |
| 12 | g.112478016G>T | CA386791779 | PTPN11 | c.1092+1G>T (n.1092+1G>T) c.978+1G>T (n.978+1G>T) c.84+1G>T (n.84+1G>T) c.1089+1G>T (n.1089+1G>T) | |
| 12 | g.112478017T>A | CA386791782 | PTPN11 | c.1092+2T>A (n.1092+2T>A) c.978+2T>A (n.978+2T>A) c.84+2T>A (n.84+2T>A) c.1089+2T>A (n.1089+2T>A) | |
| 12 | g.112478017T>C | CA386791784 | PTPN11 | c.1092+2T>C (n.1092+2T>C) c.978+2T>C (n.978+2T>C) c.84+2T>C (n.84+2T>C) c.1089+2T>C (n.1089+2T>C) | gnomAD v4 |
| 12 | g.112478017T>G | CA386791783 | PTPN11 | c.1092+2T>G (n.1092+2T>G) c.978+2T>G (n.978+2T>G) c.84+2T>G (n.84+2T>G) c.1089+2T>G (n.1089+2T>G) | |
| 12 | g.112478022C>A | CA607380057 | PTPN11 | c.1092+7C>A (n.1092+7C>A) c.978+7C>A (n.978+7C>A) c.84+7C>A (n.84+7C>A) c.1089+7C>A (n.1089+7C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112478022C= | CA2063775993 | PTPN11 | c.1092+7C= (n.1092+7C=) c.978+7C= (n.978+7C=) c.84+7C= (n.84+7C=) c.1089+7C= (n.1089+7C=) | |
| 12 | g.112478024C= | CA2063775994 | PTPN11 | c.1092+9C= (n.1092+9C=) c.978+9C= (n.978+9C=) c.84+9C= (n.84+9C=) c.1089+9C= (n.1089+9C=) | |
| 12 | g.112478024C>T | CA6798707 | PTPN11 | c.1092+9C>T (n.1092+9C>T) c.978+9C>T (n.978+9C>T) c.84+9C>T (n.84+9C>T) c.1089+9C>T (n.1089+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112478025A= | CA2063775995 | PTPN11 | c.1092+10A= (n.1092+10A=) c.978+10A= (n.978+10A=) c.84+10A= (n.84+10A=) c.1089+10A= (n.1089+10A=) | |
| 12 | g.112478025A>C | CA2621024694 | PTPN11 | c.1092+10A>C (n.1092+10A>C) c.978+10A>C (n.978+10A>C) c.84+10A>C (n.84+10A>C) c.1089+10A>C (n.1089+10A>C) | gnomAD v4 |
| 12 | g.112478025A>G | CA6798708 | PTPN11 | c.1092+10A>G (n.1092+10A>G) c.978+10A>G (n.978+10A>G) c.84+10A>G (n.84+10A>G) c.1089+10A>G (n.1089+10A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112478025A>T | CA2621024695 | PTPN11 | c.1092+10A>T (n.1092+10A>T) c.978+10A>T (n.978+10A>T) c.84+10A>T (n.84+10A>T) c.1089+10A>T (n.1089+10A>T) | gnomAD v4 |
| 12 | g.112478027A= | CA2063775996 | PTPN11 | c.1092+12A= (n.1092+12A=) c.978+12A= (n.978+12A=) c.84+12A= (n.84+12A=) c.1089+12A= (n.1089+12A=) | |
| 12 | g.112478027A>C | CA683696483 | PTPN11 | c.1092+12A>C (n.1092+12A>C) c.978+12A>C (n.978+12A>C) c.84+12A>C (n.84+12A>C) c.1089+12A>C (n.1089+12A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112478030C>T | CA2575298856 | PTPN11 | c.1092+15C>T (n.1092+15C>T) c.978+15C>T (n.978+15C>T) c.84+15C>T (n.84+15C>T) c.1089+15C>T (n.1089+15C>T) | |
| 12 | g.112478033_112478035del | CA2575298854 | PTPN11 | c.1092+18_1092+20del (n.1092+18_1092+20del) c.978+18_978+20del (n.978+18_978+20del) c.84+18_84+20del (n.84+18_84+20del) c.1089+18_1089+20del (n.1089+18_1089+20del) | |
| 12 | g.112478031T>C | CA6798709 | PTPN11 | c.1092+16T>C (n.1092+16T>C) c.978+16T>C (n.978+16T>C) c.84+16T>C (n.84+16T>C) c.1089+16T>C (n.1089+16T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112478031T= | CA2063775997 | PTPN11 | c.1092+16T= (n.1092+16T=) c.978+16T= (n.978+16T=) c.84+16T= (n.84+16T=) c.1089+16T= (n.1089+16T=) | |
| 12 | g.112478033C>A | CA2575298859 | PTPN11 | c.1092+18C>A (n.1092+18C>A) c.978+18C>A (n.978+18C>A) c.84+18C>A (n.84+18C>A) c.1089+18C>A (n.1089+18C>A) | ClinVar gnomAD v4 |
| 12 | g.112478033C>G | CA2621024696 | PTPN11 | c.1092+18C>G (n.1092+18C>G) c.978+18C>G (n.978+18C>G) c.84+18C>G (n.84+18C>G) c.1089+18C>G (n.1089+18C>G) | dbSNP gnomAD v4 |
| 12 | g.112478033C>T | CA2621024697 | PTPN11 | c.1092+18C>T (n.1092+18C>T) c.978+18C>T (n.978+18C>T) c.84+18C>T (n.84+18C>T) c.1089+18C>T (n.1089+18C>T) | gnomAD v4 |
| 12 | g.112478035T>G | CA2621024698 | PTPN11 | c.1092+20T>G (n.1092+20T>G) c.978+20T>G (n.978+20T>G) c.84+20T>G (n.84+20T>G) c.1089+20T>G (n.1089+20T>G) | gnomAD v4 |