Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
12 | g.112478038C= | CA2063775999 | PTPN11 | c.1092+23C= (n.1092+23C=) c.978+23C= (n.978+23C=) c.84+23C= (n.84+23C=) c.1089+23C= (n.1089+23C=) | |
12 | g.112478038C>G | CA6798710 | PTPN11 | c.1092+23C>G (n.1092+23C>G) c.978+23C>G (n.978+23C>G) c.84+23C>G (n.84+23C>G) c.1089+23C>G (n.1089+23C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112478038C>T | CA2063775998 | PTPN11 | c.1092+23C>T (n.1092+23C>T) c.978+23C>T (n.978+23C>T) c.84+23C>T (n.84+23C>T) c.1089+23C>T (n.1089+23C>T) | dbSNP |
12 | g.112478040G>A | CA607380063 | PTPN11 | c.1092+25G>A (n.1092+25G>A) c.978+25G>A (n.978+25G>A) c.84+25G>A (n.84+25G>A) c.1089+25G>A (n.1089+25G>A) | dbSNP gnomAD v2 |
12 | g.112478040G= | CA2063776000 | PTPN11 | c.1092+25G= (n.1092+25G=) c.978+25G= (n.978+25G=) c.84+25G= (n.84+25G=) c.1089+25G= (n.1089+25G=) | |
12 | g.112478040G>T | CA655255912 | PTPN11 | c.1092+25G>T (n.1092+25G>T) c.978+25G>T (n.978+25G>T) c.84+25G>T (n.84+25G>T) c.1089+25G>T (n.1089+25G>T) | COSMIC |
12 | g.112478043A= | CA2063776001 | PTPN11 | c.1092+28A= (n.1092+28A=) c.978+28A= (n.978+28A=) c.84+28A= (n.84+28A=) c.1089+28A= (n.1089+28A=) | |
12 | g.112478043A>C | CA951951259 | PTPN11 | c.1092+28A>C (n.1092+28A>C) c.978+28A>C (n.978+28A>C) c.84+28A>C (n.84+28A>C) c.1089+28A>C (n.1089+28A>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112478043A>G | CA6798711 | PTPN11 | c.1092+28A>G (n.1092+28A>G) c.978+28A>G (n.978+28A>G) c.84+28A>G (n.84+28A>G) c.1089+28A>G (n.1089+28A>G) | dbSNP ExAC gnomAD v2 |
12 | g.112478046C= | CA2063776002 | PTPN11 | c.1092+31C= (n.1092+31C=) c.978+31C= (n.978+31C=) c.84+31C= (n.84+31C=) c.1089+31C= (n.1089+31C=) | |
12 | g.112478046C>T | CA6798712 | PTPN11 | c.1092+31C>T (n.1092+31C>T) c.978+31C>T (n.978+31C>T) c.84+31C>T (n.84+31C>T) c.1089+31C>T (n.1089+31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112478047T>A | CA2621024700 | PTPN11 | c.1092+32T>A (n.1092+32T>A) c.978+32T>A (n.978+32T>A) c.84+32T>A (n.84+32T>A) c.1089+32T>A (n.1089+32T>A) | gnomAD v4 |
12 | g.112478047T>C | CA6798713 | PTPN11 | c.1092+32T>C (n.1092+32T>C) c.978+32T>C (n.978+32T>C) c.84+32T>C (n.84+32T>C) c.1089+32T>C (n.1089+32T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112478047T>G | CA243712065 | PTPN11 | c.1092+32T>G (n.1092+32T>G) c.978+32T>G (n.978+32T>G) c.84+32T>G (n.84+32T>G) c.1089+32T>G (n.1089+32T>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112478047T= | CA2063776003 | PTPN11 | c.1092+32T= (n.1092+32T=) c.978+32T= (n.978+32T=) c.84+32T= (n.84+32T=) c.1089+32T= (n.1089+32T=) | |
12 | g.112478048G>A | CA607380068 | PTPN11 | c.1092+33G>A (n.1092+33G>A) c.978+33G>A (n.978+33G>A) c.84+33G>A (n.84+33G>A) c.1089+33G>A (n.1089+33G>A) | gnomAD v2 gnomAD v4 |
12 | g.112478048_112478049delinsGT | CA2063776004 | PTPN11 | c.1092+33_1092+34delinsGT (n.1092+33_1092+34delinsGT) c.978+33_978+34delinsGT (n.978+33_978+34delinsGT) c.84+33_84+34delinsGT (n.84+33_84+34delinsGT) c.1089+33_1089+34delinsGT (n.1089+33_1089+34delinsGT) | |
12 | g.112478049T>C | CA6798715 | PTPN11 | c.1092+34T>C (n.1092+34T>C) c.978+34T>C (n.978+34T>C) c.84+34T>C (n.84+34T>C) c.1089+34T>C (n.1089+34T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112478049T= | CA2063776006 | PTPN11 | c.1092+34T= (n.1092+34T=) c.978+34T= (n.978+34T=) c.84+34T= (n.84+34T=) c.1089+34T= (n.1089+34T=) | |
12 | g.112478053dup | CA6798714 | PTPN11 | c.1092+38dup (n.1092+38dup) c.978+38dup (n.978+38dup) c.84+38dup (n.84+38dup) c.1089+38dup (n.1089+38dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112478053del | CA2063776005 | PTPN11 | c.1092+38del (n.1092+38del) c.978+38del (n.978+38del) c.84+38del (n.84+38del) c.1089+38del (n.1089+38del) | dbSNP gnomAD v4 |
12 | g.112478051T>C | CA2797498056 | PTPN11 | c.1092+36T>C (n.1092+36T>C) c.978+36T>C (n.978+36T>C) c.84+36T>C (n.84+36T>C) c.1089+36T>C (n.1089+36T>C) | |
12 | g.112478054A= | CA2063776007 | PTPN11 | c.1092+39A= (n.1092+39A=) c.978+39A= (n.978+39A=) c.84+39A= (n.84+39A=) c.1089+39A= (n.1089+39A=) | |
12 | g.112478054A>G | CA607380072 | PTPN11 | c.1092+39A>G (n.1092+39A>G) c.978+39A>G (n.978+39A>G) c.84+39A>G (n.84+39A>G) c.1089+39A>G (n.1089+39A>G) | dbSNP gnomAD v2 |
12 | g.112478055A= | CA2063776008 | PTPN11 | c.1092+40A= (n.1092+40A=) c.978+40A= (n.978+40A=) c.84+40A= (n.84+40A=) c.1089+40A= (n.1089+40A=) | |
12 | g.112478055A>G | CA6798716 | PTPN11 | c.1092+40A>G (n.1092+40A>G) c.978+40A>G (n.978+40A>G) c.84+40A>G (n.84+40A>G) c.1089+40A>G (n.1089+40A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112478058T>C | CA2575298864 | PTPN11 | c.1092+43T>C (n.1092+43T>C) c.978+43T>C (n.978+43T>C) c.84+43T>C (n.84+43T>C) c.1089+43T>C (n.1089+43T>C) | |
12 | g.112478060T>C | CA6798717 | PTPN11 | c.1092+45T>C (n.1092+45T>C) c.978+45T>C (n.978+45T>C) c.84+45T>C (n.84+45T>C) c.1089+45T>C (n.1089+45T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112478060T= | CA2063776009 | PTPN11 | c.1092+45T= (n.1092+45T=) c.978+45T= (n.978+45T=) c.84+45T= (n.84+45T=) c.1089+45T= (n.1089+45T=) | |
12 | g.112478061C>A | CA2621024705 | PTPN11 | c.1092+46C>A (n.1092+46C>A) c.978+46C>A (n.978+46C>A) c.84+46C>A (n.84+46C>A) c.1089+46C>A (n.1089+46C>A) | gnomAD v4 |
12 | g.112478061C= | CA2063776010 | PTPN11 | c.1092+46C= (n.1092+46C=) c.978+46C= (n.978+46C=) c.84+46C= (n.84+46C=) c.1089+46C= (n.1089+46C=) | |
12 | g.112478061C>G | CA6798718 | PTPN11 | c.1092+46C>G (n.1092+46C>G) c.978+46C>G (n.978+46C>G) c.84+46C>G (n.84+46C>G) c.1089+46C>G (n.1089+46C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112478061C>T | CA2063776011 | PTPN11 | c.1092+46C>T (n.1092+46C>T) c.978+46C>T (n.978+46C>T) c.84+46C>T (n.84+46C>T) c.1089+46C>T (n.1089+46C>T) | dbSNP gnomAD v4 |
12 | g.112478062A>G | CA2621024706 | PTPN11 | c.1092+47A>G (n.1092+47A>G) c.978+47A>G (n.978+47A>G) c.84+47A>G (n.84+47A>G) c.1089+47A>G (n.1089+47A>G) | gnomAD v4 |
12 | g.112478062A>T | CA2575298867 | PTPN11 | c.1092+47A>T (n.1092+47A>T) c.978+47A>T (n.978+47A>T) c.84+47A>T (n.84+47A>T) c.1089+47A>T (n.1089+47A>T) | gnomAD v4 |
12 | g.112478063G>A | CA2621024708 | PTPN11 | c.1092+48G>A (n.1092+48G>A) c.978+48G>A (n.978+48G>A) c.84+48G>A (n.84+48G>A) c.1089+48G>A (n.1089+48G>A) | gnomAD v4 |
12 | g.112478064A= | CA2063776012 | PTPN11 | c.1092+49A= (n.1092+49A=) c.978+49A= (n.978+49A=) c.84+49A= (n.84+49A=) c.1089+49A= (n.1089+49A=) | |
12 | g.112478064A>G | CA951951279 | PTPN11 | c.1092+49A>G (n.1092+49A>G) c.978+49A>G (n.978+49A>G) c.84+49A>G (n.84+49A>G) c.1089+49A>G (n.1089+49A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112478065C= | CA2063776013 | PTPN11 | c.1092+50C= (n.1092+50C=) c.978+50C= (n.978+50C=) c.84+50C= (n.84+50C=) c.1089+50C= (n.1089+50C=) | |
12 | g.112478065C>G | CA2621024710 | PTPN11 | c.1092+50C>G (n.1092+50C>G) c.978+50C>G (n.978+50C>G) c.84+50C>G (n.84+50C>G) c.1089+50C>G (n.1089+50C>G) | gnomAD v4 |
12 | g.112478065C>T | CA6798719 | PTPN11 | c.1092+50C>T (n.1092+50C>T) c.978+50C>T (n.978+50C>T) c.84+50C>T (n.84+50C>T) c.1089+50C>T (n.1089+50C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112478066A= | CA2063776014 | PTPN11 | c.1092+51A= (n.1092+51A=) c.978+51A= (n.978+51A=) c.84+51A= (n.84+51A=) c.1089+51A= (n.1089+51A=) | |
12 | g.112478066A>G | CA607380083 | PTPN11 | c.1092+51A>G (n.1092+51A>G) c.978+51A>G (n.978+51A>G) c.84+51A>G (n.84+51A>G) c.1089+51A>G (n.1089+51A>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112478067T>G | CA2575298870 | PTPN11 | c.1092+52T>G (n.1092+52T>G) c.978+52T>G (n.978+52T>G) c.84+52T>G (n.84+52T>G) c.1089+52T>G (n.1089+52T>G) | |
12 | g.112478069T>A | CA2063776016 | PTPN11 | c.1092+54T>A (n.1092+54T>A) c.978+54T>A (n.978+54T>A) c.84+54T>A (n.84+54T>A) c.1089+54T>A (n.1089+54T>A) | dbSNP |
12 | g.112478069T>G | CA683696531 | PTPN11 | c.1092+54T>G (n.1092+54T>G) c.978+54T>G (n.978+54T>G) c.84+54T>G (n.84+54T>G) c.1089+54T>G (n.1089+54T>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112478069T= | CA2063776015 | PTPN11 | c.1092+54T= (n.1092+54T=) c.978+54T= (n.978+54T=) c.84+54T= (n.84+54T=) c.1089+54T= (n.1089+54T=) | |
12 | g.112478070C>A | CA2621024711 | PTPN11 | c.1092+55C>A (n.1092+55C>A) c.978+55C>A (n.978+55C>A) c.84+55C>A (n.84+55C>A) c.1089+55C>A (n.1089+55C>A) | gnomAD v4 |
12 | g.112478071A>C | CA2621024712 | PTPN11 | c.1092+56A>C (n.1092+56A>C) c.978+56A>C (n.978+56A>C) c.84+56A>C (n.84+56A>C) c.1089+56A>C (n.1089+56A>C) | gnomAD v4 |
12 | g.112478071A>G | CA2797498057 | PTPN11 | c.1092+56A>G (n.1092+56A>G) c.978+56A>G (n.978+56A>G) c.84+56A>G (n.84+56A>G) c.1089+56A>G (n.1089+56A>G) | |
12 | g.112478071A>T | CA2575298872 | PTPN11 | c.1092+56A>T (n.1092+56A>T) c.978+56A>T (n.978+56A>T) c.84+56A>T (n.84+56A>T) c.1089+56A>T (n.1089+56A>T) | gnomAD v4 |
12 | g.112478072G>A | CA2621024714 | PTPN11 | c.1092+57G>A (n.1092+57G>A) c.978+57G>A (n.978+57G>A) c.84+57G>A (n.84+57G>A) c.1089+57G>A (n.1089+57G>A) | dbSNP gnomAD v4 |
12 | g.112478072G>T | CA2621024716 | PTPN11 | c.1092+57G>T (n.1092+57G>T) c.978+57G>T (n.978+57G>T) c.84+57G>T (n.84+57G>T) c.1089+57G>T (n.1089+57G>T) | gnomAD v4 |
12 | g.112478073A= | CA2063776017 | PTPN11 | c.1092+58A= (n.1092+58A=) c.978+58A= (n.978+58A=) c.84+58A= (n.84+58A=) c.1089+58A= (n.1089+58A=) | |
12 | g.112478073A>G | CA951951286 | PTPN11 | c.1092+58A>G (n.1092+58A>G) c.978+58A>G (n.978+58A>G) c.84+58A>G (n.84+58A>G) c.1089+58A>G (n.1089+58A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112478074T>C | CA2621024717 | PTPN11 | c.1092+59T>C (n.1092+59T>C) c.978+59T>C (n.978+59T>C) c.84+59T>C (n.84+59T>C) c.1089+59T>C (n.1089+59T>C) | gnomAD v4 |