| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |