Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.112477975G>ACA282114PTPN11c.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
12g.112477975G>CCA386791609PTPN11c.1052G>C (p.Arg351Pro)
c.938G>C (p.Arg313Pro)
c.44G>C (p.Arg15Pro)
c.1049G>C (p.Arg350Pro)
dbSNP gnomAD v4
12g.112477975G=CA2063775981PTPN11c.1052G= (p.Arg351=)
c.938G= (p.Arg313=)
c.44G= (p.Arg15=)
c.1049G= (p.Arg350=)
12g.112477975G>TCA386791608PTPN11c.1052G>T (p.Arg351Leu)
c.938G>T (p.Arg313Leu)
c.44G>T (p.Arg15Leu)
c.1049G>T (p.Arg350Leu)
dbSNP
12g.112477976A=CA2063775982PTPN11c.1053A= (p.Arg351=)
c.939A= (p.Arg313=)
c.45A= (p.Arg15=)
c.1050A= (p.Arg350=)
12g.112477976A>CCA481888039PTPN11c.1053A>C (p.Arg351=)
c.939A>C (p.Arg313=)
c.45A>C (p.Arg15=)
c.1050A>C (p.Arg350=)
gnomAD v4
12g.112477976A>GCA243712046PTPN11c.1053A>G (p.Arg351=)
c.939A>G (p.Arg313=)
c.45A>G (p.Arg15=)
c.1050A>G (p.Arg350=)
dbSNP gnomAD v4
12g.112477976A>TCA481888038PTPN11c.1053A>T (p.Arg351=)
c.939A>T (p.Arg313=)
c.45A>T (p.Arg15=)
c.1050A>T (p.Arg350=)
12g.112477977G>ACA386791613PTPN11c.1054G>A (p.Val352Met)
c.940G>A (p.Val314Met)
c.46G>A (p.Val16Met)
c.1051G>A (p.Val351Met)
12g.112477977G>CCA6798703PTPN11c.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
12g.112477977G=CA2063775983PTPN11c.1054G= (p.Val352=)
c.940G= (p.Val314=)
c.46G= (p.Val16=)
c.1051G= (p.Val351=)
12g.112477977G>TCA386791616PTPN11c.1054G>T (p.Val352Leu)
c.940G>T (p.Val314Leu)
c.46G>T (p.Val16Leu)
c.1051G>T (p.Val351Leu)
12g.112477978T>ACA386791618PTPN11c.1055T>A (p.Val352Glu)
c.941T>A (p.Val314Glu)
c.47T>A (p.Val16Glu)
c.1052T>A (p.Val351Glu)
12g.112477978T>CCA386791620PTPN11c.1055T>C (p.Val352Ala)
c.941T>C (p.Val314Ala)
c.47T>C (p.Val16Ala)
c.1052T>C (p.Val351Ala)
12g.112477978T>GCA386791622PTPN11c.1055T>G (p.Val352Gly)
c.941T>G (p.Val314Gly)
c.47T>G (p.Val16Gly)
c.1052T>G (p.Val351Gly)
12g.112477979G>ACA481888044PTPN11c.1056G>A (p.Val352=)
c.942G>A (p.Val314=)
c.48G>A (p.Val16=)
c.1053G>A (p.Val351=)
dbSNP gnomAD v2 gnomAD v4
12g.112477979G>CCA481888045PTPN11c.1056G>C (p.Val352=)
c.942G>C (p.Val314=)
c.48G>C (p.Val16=)
c.1053G>C (p.Val351=)
12g.112477979G=CA2063775984PTPN11c.1056G= (p.Val352=)
c.942G= (p.Val314=)
c.48G= (p.Val16=)
c.1053G= (p.Val351=)
12g.112477979G>TCA481888046PTPN11c.1056G>T (p.Val352=)
c.942G>T (p.Val314=)
c.48G>T (p.Val16=)
c.1053G>T (p.Val351=)
12g.112477980A=CA2063775985PTPN11c.1057A= (p.Ile353=)
c.943A= (p.Ile315=)
c.49A= (p.Ile17=)
c.1054A= (p.Ile352=)
12g.112477980A>CCA6798704PTPN11c.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
12g.112477980A>GCA386791625PTPN11c.1057A>G (p.Ile353Val)
c.943A>G (p.Ile315Val)
c.49A>G (p.Ile17Val)
c.1054A>G (p.Ile352Val)
dbSNP gnomAD v3 gnomAD v4
12g.112477980A>TCA386791626PTPN11c.1057A>T (p.Ile353Phe)
c.943A>T (p.Ile315Phe)
c.49A>T (p.Ile17Phe)
c.1054A>T (p.Ile352Phe)
12g.112477981T>ACA386791630PTPN11c.1058T>A (p.Ile353Asn)
c.944T>A (p.Ile315Asn)
c.50T>A (p.Ile17Asn)
c.1055T>A (p.Ile352Asn)
12g.112477981T>CCA386791631PTPN11c.1058T>C (p.Ile353Thr)
c.944T>C (p.Ile315Thr)
c.50T>C (p.Ile17Thr)
c.1055T>C (p.Ile352Thr)
12g.112477981T>GCA386791628PTPN11c.1058T>G (p.Ile353Ser)
c.944T>G (p.Ile315Ser)
c.50T>G (p.Ile17Ser)
c.1055T>G (p.Ile352Ser)
12g.112477982T>ACA481888048PTPN11c.1059T>A (p.Ile353=)
c.945T>A (p.Ile315=)
c.51T>A (p.Ile17=)
c.1056T>A (p.Ile352=)
12g.112477982T>CCA481888047PTPN11c.1059T>C (p.Ile353=)
c.945T>C (p.Ile315=)
c.51T>C (p.Ile17=)
c.1056T>C (p.Ile352=)
12g.112477982T>GCA386791633PTPN11c.1059T>G (p.Ile353Met)
c.945T>G (p.Ile315Met)
c.51T>G (p.Ile17Met)
c.1056T>G (p.Ile352Met)
12g.112477983G>ACA386791637PTPN11c.1060G>A (p.Val354Ile)
c.946G>A (p.Val316Ile)
c.52G>A (p.Val18Ile)
c.1057G>A (p.Val353Ile)
12g.112477983G>CCA386791638PTPN11c.1060G>C (p.Val354Leu)
c.946G>C (p.Val316Leu)
c.52G>C (p.Val18Leu)
c.1057G>C (p.Val353Leu)
12g.112477983G>TCA386791640PTPN11c.1060G>T (p.Val354Phe)
c.946G>T (p.Val316Phe)
c.52G>T (p.Val18Phe)
c.1057G>T (p.Val353Phe)
12g.112477984T>ACA386791642PTPN11c.1061T>A (p.Val354Asp)
c.947T>A (p.Val316Asp)
c.53T>A (p.Val18Asp)
c.1058T>A (p.Val353Asp)
12g.112477984T>CCA386791644PTPN11c.1061T>C (p.Val354Ala)
c.947T>C (p.Val316Ala)
c.53T>C (p.Val18Ala)
c.1058T>C (p.Val353Ala)
12g.112477984T>GCA386791645PTPN11c.1061T>G (p.Val354Gly)
c.947T>G (p.Val316Gly)
c.53T>G (p.Val18Gly)
c.1058T>G (p.Val353Gly)
12g.112477985C>ACA481888049PTPN11c.1062C>A (p.Val354=)
c.948C>A (p.Val316=)
c.54C>A (p.Val18=)
c.1059C>A (p.Val353=)
dbSNP
12g.112477985C=CA2063775986PTPN11c.1062C= (p.Val354=)
c.948C= (p.Val316=)
c.54C= (p.Val18=)
c.1059C= (p.Val353=)
12g.112477985C>GCA481888050PTPN11c.1062C>G (p.Val354=)
c.948C>G (p.Val316=)
c.54C>G (p.Val18=)
c.1059C>G (p.Val353=)
12g.112477985C>TCA481888051PTPN11c.1062C>T (p.Val354=)
c.948C>T (p.Val316=)
c.54C>T (p.Val18=)
c.1059C>T (p.Val353=)
dbSNP
12g.112477986A>CCA386791648PTPN11c.1063A>C (p.Met355Leu)
c.949A>C (p.Met317Leu)
c.55A>C (p.Met19Leu)
c.1060A>C (p.Met354Leu)
12g.112477986A>GCA386791649PTPN11c.1063A>G (p.Met355Val)
c.949A>G (p.Met317Val)
c.55A>G (p.Met19Val)
c.1060A>G (p.Met354Val)
12g.112477986A>TCA386791651PTPN11c.1063A>T (p.Met355Leu)
c.949A>T (p.Met317Leu)
c.55A>T (p.Met19Leu)
c.1060A>T (p.Met354Leu)
12g.112477987T>ACA386791653PTPN11c.1064T>A (p.Met355Lys)
c.950T>A (p.Met317Lys)
c.56T>A (p.Met19Lys)
c.1061T>A (p.Met354Lys)
12g.112477987T>CCA386791654PTPN11c.1064T>C (p.Met355Thr)
c.950T>C (p.Met317Thr)
c.56T>C (p.Met19Thr)
c.1061T>C (p.Met354Thr)
dbSNP COSMIC
12g.112477987T>GCA386791655PTPN11c.1064T>G (p.Met355Arg)
c.950T>G (p.Met317Arg)
c.56T>G (p.Met19Arg)
c.1061T>G (p.Met354Arg)
12g.112477987T=CA2063775987PTPN11c.1064T= (p.Met355=)
c.950T= (p.Met317=)
c.56T= (p.Met19=)
c.1061T= (p.Met354=)
12g.112477988G>ACA386791659PTPN11c.1065G>A (p.Met355Ile)
c.951G>A (p.Met317Ile)
c.57G>A (p.Met19Ile)
c.1062G>A (p.Met354Ile)
gnomAD v4
12g.112477988G>CCA386791657PTPN11c.1065G>C (p.Met355Ile)
c.951G>C (p.Met317Ile)
c.57G>C (p.Met19Ile)
c.1062G>C (p.Met354Ile)
12g.112477988G>TCA386791656PTPN11c.1065G>T (p.Met355Ile)
c.951G>T (p.Met317Ile)
c.57G>T (p.Met19Ile)
c.1062G>T (p.Met354Ile)
12g.112477989A>CCA386791661PTPN11c.1066A>C (p.Thr356Pro)
c.952A>C (p.Thr318Pro)
c.58A>C (p.Thr20Pro)
c.1063A>C (p.Thr355Pro)
12g.112477989A>GCA386791663PTPN11c.1066A>G (p.Thr356Ala)
c.952A>G (p.Thr318Ala)
c.58A>G (p.Thr20Ala)
c.1063A>G (p.Thr355Ala)
12g.112477989A>TCA386791664PTPN11c.1066A>T (p.Thr356Ser)
c.952A>T (p.Thr318Ser)
c.58A>T (p.Thr20Ser)
c.1063A>T (p.Thr355Ser)
12g.112477990C>ACA386791666PTPN11c.1067C>A (p.Thr356Lys)
c.953C>A (p.Thr318Lys)
c.59C>A (p.Thr20Lys)
c.1064C>A (p.Thr355Lys)
12g.112477990C>GCA386791668PTPN11c.1067C>G (p.Thr356Arg)
c.953C>G (p.Thr318Arg)
c.59C>G (p.Thr20Arg)
c.1064C>G (p.Thr355Arg)
12g.112477990C>TCA386791669PTPN11c.1067C>T (p.Thr356Ile)
c.953C>T (p.Thr318Ile)
c.59C>T (p.Thr20Ile)
c.1064C>T (p.Thr355Ile)
12g.112477991A>CCA481888052PTPN11c.1068A>C (p.Thr356=)
c.954A>C (p.Thr318=)
c.60A>C (p.Thr20=)
c.1065A>C (p.Thr355=)
12g.112477991A>GCA481888053PTPN11c.1068A>G (p.Thr356=)
c.954A>G (p.Thr318=)
c.60A>G (p.Thr20=)
c.1065A>G (p.Thr355=)
gnomAD v4
12g.112477991A>TCA481888054PTPN11c.1068A>T (p.Thr356=)
c.954A>T (p.Thr318=)
c.60A>T (p.Thr20=)
c.1065A>T (p.Thr355=)
12g.112477992A=CA2063775988PTPN11c.1069A= (p.Thr357=)
c.955A= (p.Thr319=)
c.61A= (p.Thr21=)
c.1066A= (p.Thr356=)
12g.112477992A>CCA386791672PTPN11c.1069A>C (p.Thr357Pro)
c.955A>C (p.Thr319Pro)
c.61A>C (p.Thr21Pro)
c.1066A>C (p.Thr356Pro)
12g.112477992A>GCA6798705PTPN11c.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
12g.112477992A>TCA386791674PTPN11c.1069A>T (p.Thr357Ser)
c.955A>T (p.Thr319Ser)
c.61A>T (p.Thr21Ser)
c.1066A>T (p.Thr356Ser)
12g.112477993delCA2573147995PTPN11c.1070del (p.Thr357ArgfsTer21)
c.956del (p.Thr319ArgfsTer21)
c.62del (p.Thr21ArgfsTer21)
c.1067del (p.Thr356ArgfsTer21)
ClinVar dbSNP
12g.112477993C>ACA386791675PTPN11c.1070C>A (p.Thr357Lys)
c.956C>A (p.Thr319Lys)
c.62C>A (p.Thr21Lys)
c.1067C>A (p.Thr356Lys)
12g.112477993C>GCA386791676PTPN11c.1070C>G (p.Thr357Arg)
c.956C>G (p.Thr319Arg)
c.62C>G (p.Thr21Arg)
c.1067C>G (p.Thr356Arg)
dbSNP
12g.112477993C>TCA386791678PTPN11c.1070C>T (p.Thr357Met)
c.956C>T (p.Thr319Met)
c.62C>T (p.Thr21Met)
c.1067C>T (p.Thr356Met)
dbSNP gnomAD v4
12g.112477994G>ACA6798706PTPN11c.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
12g.112477994G>CCA481888055PTPN11c.1071G>C (p.Thr357=)
c.957G>C (p.Thr319=)
c.63G>C (p.Thr21=)
c.1068G>C (p.Thr356=)
ClinVar dbSNP
12g.112477994G=CA2063775989PTPN11c.1071G= (p.Thr357=)
c.957G= (p.Thr319=)
c.63G= (p.Thr21=)
c.1068G= (p.Thr356=)
12g.112477994G>TCA481888056PTPN11c.1071G>T (p.Thr357=)
c.957G>T (p.Thr319=)
c.63G>T (p.Thr21=)
c.1068G>T (p.Thr356=)
12g.112477995A>CCA386791681PTPN11c.1072A>C (p.Lys358Gln)
c.958A>C (p.Lys320Gln)
c.64A>C (p.Lys22Gln)
c.1069A>C (p.Lys357Gln)
12g.112477995A>GCA386791686PTPN11c.1072A>G (p.Lys358Glu)
c.958A>G (p.Lys320Glu)
c.64A>G (p.Lys22Glu)
c.1069A>G (p.Lys357Glu)
12g.112477995A>TCA386791683PTPN11c.1072A>T (p.Lys358Ter)
c.958A>T (p.Lys320Ter)
c.64A>T (p.Lys22Ter)
c.1069A>T (p.Lys357Ter)
12g.112477996A>CCA386791688PTPN11c.1073A>C (p.Lys358Thr)
c.959A>C (p.Lys320Thr)
c.65A>C (p.Lys22Thr)
c.1070A>C (p.Lys357Thr)
12g.112477996A>GCA386791691PTPN11c.1073A>G (p.Lys358Arg)
c.959A>G (p.Lys320Arg)
c.65A>G (p.Lys22Arg)
c.1070A>G (p.Lys357Arg)
12g.112477996A>TCA386791689PTPN11c.1073A>T (p.Lys358Ile)
c.959A>T (p.Lys320Ile)
c.65A>T (p.Lys22Ile)
c.1070A>T (p.Lys357Ile)
12g.112477997A>CCA386791693PTPN11c.1074A>C (p.Lys358Asn)
c.960A>C (p.Lys320Asn)
c.66A>C (p.Lys22Asn)
c.1071A>C (p.Lys357Asn)
12g.112477997A>GCA481888057PTPN11c.1074A>G (p.Lys358=)
c.960A>G (p.Lys320=)
c.66A>G (p.Lys22=)
c.1071A>G (p.Lys357=)
12g.112477997A>TCA386791694PTPN11c.1074A>T (p.Lys358Asn)
c.960A>T (p.Lys320Asn)
c.66A>T (p.Lys22Asn)
c.1071A>T (p.Lys357Asn)
12g.112477998G>ACA386791697PTPN11c.1075G>A (p.Glu359Lys)
c.961G>A (p.Glu321Lys)
c.67G>A (p.Glu23Lys)
c.1072G>A (p.Glu358Lys)
12g.112477998G>CCA386791701PTPN11c.1075G>C (p.Glu359Gln)
c.961G>C (p.Glu321Gln)
c.67G>C (p.Glu23Gln)
c.1072G>C (p.Glu358Gln)
gnomAD v4
12g.112477998G>TCA386791699PTPN11c.1075G>T (p.Glu359Ter)
c.961G>T (p.Glu321Ter)
c.67G>T (p.Glu23Ter)
c.1072G>T (p.Glu358Ter)
ClinVar dbSNP
12g.112477999A>CCA386791702PTPN11c.1076A>C (p.Glu359Ala)
c.962A>C (p.Glu321Ala)
c.68A>C (p.Glu23Ala)
c.1073A>C (p.Glu358Ala)
12g.112477999A>GCA386791704PTPN11c.1076A>G (p.Glu359Gly)
c.962A>G (p.Glu321Gly)
c.68A>G (p.Glu23Gly)
c.1073A>G (p.Glu358Gly)
12g.112477999A>TCA386791706PTPN11c.1076A>T (p.Glu359Val)
c.962A>T (p.Glu321Val)
c.68A>T (p.Glu23Val)
c.1073A>T (p.Glu358Val)
12g.112478000A>CCA386791707PTPN11c.1077A>C (p.Glu359Asp)
c.963A>C (p.Glu321Asp)
c.69A>C (p.Glu23Asp)
c.1074A>C (p.Glu358Asp)
12g.112478000A>GCA481888059PTPN11c.1077A>G (p.Glu359=)
c.963A>G (p.Glu321=)
c.69A>G (p.Glu23=)
c.1074A>G (p.Glu358=)
12g.112478000A>TCA386791709PTPN11c.1077A>T (p.Glu359Asp)
c.963A>T (p.Glu321Asp)
c.69A>T (p.Glu23Asp)
c.1074A>T (p.Glu358Asp)
12g.112478001G>ACA386791710PTPN11c.1078G>A (p.Val360Met)
c.964G>A (p.Val322Met)
c.70G>A (p.Val24Met)
c.1075G>A (p.Val359Met)
ClinVar
12g.112478001G>CCA386791712PTPN11c.1078G>C (p.Val360Leu)
c.964G>C (p.Val322Leu)
c.70G>C (p.Val24Leu)
c.1075G>C (p.Val359Leu)
12g.112478001G>TCA386791714PTPN11c.1078G>T (p.Val360Leu)
c.964G>T (p.Val322Leu)
c.70G>T (p.Val24Leu)
c.1075G>T (p.Val359Leu)
12g.112478002T>ACA386791715PTPN11c.1079T>A (p.Val360Glu)
c.965T>A (p.Val322Glu)
c.71T>A (p.Val24Glu)
c.1076T>A (p.Val359Glu)
12g.112478002T>CCA386791716PTPN11c.1079T>C (p.Val360Ala)
c.965T>C (p.Val322Ala)
c.71T>C (p.Val24Ala)
c.1076T>C (p.Val359Ala)
12g.112478002T>GCA386791718PTPN11c.1079T>G (p.Val360Gly)
c.965T>G (p.Val322Gly)
c.71T>G (p.Val24Gly)
c.1076T>G (p.Val359Gly)
12g.112478003G>ACA481888060PTPN11c.1080G>A (p.Val360=)
c.966G>A (p.Val322=)
c.72G>A (p.Val24=)
c.1077G>A (p.Val359=)
12g.112478003G>CCA481888061PTPN11c.1080G>C (p.Val360=)
c.966G>C (p.Val322=)
c.72G>C (p.Val24=)
c.1077G>C (p.Val359=)
12g.112478003G>TCA481888062PTPN11c.1080G>T (p.Val360=)
c.966G>T (p.Val322=)
c.72G>T (p.Val24=)
c.1077G>T (p.Val359=)
12g.112478004G>ACA386791724PTPN11c.1081G>A (p.Glu361Lys)
c.967G>A (p.Glu323Lys)
c.73G>A (p.Glu25Lys)
c.1078G>A (p.Glu360Lys)
12g.112478004G>CCA386791722PTPN11c.1081G>C (p.Glu361Gln)
c.967G>C (p.Glu323Gln)
c.73G>C (p.Glu25Gln)
c.1078G>C (p.Glu360Gln)
dbSNP
12g.112478004G=CA2063775990PTPN11c.1081G= (p.Glu361=)
c.967G= (p.Glu323=)
c.73G= (p.Glu25=)
c.1078G= (p.Glu360=)
12g.112478004G>TCA386791720PTPN11c.1081G>T (p.Glu361Ter)
c.967G>T (p.Glu323Ter)
c.73G>T (p.Glu25Ter)
c.1078G>T (p.Glu360Ter)
12g.112478005A>CCA386791726PTPN11c.1082A>C (p.Glu361Ala)
c.968A>C (p.Glu323Ala)
c.74A>C (p.Glu25Ala)
c.1079A>C (p.Glu360Ala)
12g.112478005A>GCA386791727PTPN11c.1082A>G (p.Glu361Gly)
c.968A>G (p.Glu323Gly)
c.74A>G (p.Glu25Gly)
c.1079A>G (p.Glu360Gly)
dbSNP
12g.112478005A>TCA386791728PTPN11c.1082A>T (p.Glu361Val)
c.968A>T (p.Glu323Val)
c.74A>T (p.Glu25Val)
c.1079A>T (p.Glu360Val)
12g.112478006G>ACA481888063PTPN11c.1083G>A (p.Glu361=)
c.969G>A (p.Glu323=)
c.75G>A (p.Glu25=)
c.1080G>A (p.Glu360=)
12g.112478006G>CCA386791730PTPN11c.1083G>C (p.Glu361Asp)
c.969G>C (p.Glu323Asp)
c.75G>C (p.Glu25Asp)
c.1080G>C (p.Glu360Asp)
12g.112478006G>TCA386791732PTPN11c.1083G>T (p.Glu361Asp)
c.969G>T (p.Glu323Asp)
c.75G>T (p.Glu25Asp)
c.1080G>T (p.Glu360Asp)
12g.112478007A>CCA481888064PTPN11c.1084A>C (p.Arg362=)
c.970A>C (p.Arg324=)
c.76A>C (p.Arg26=)
c.1081A>C (p.Arg361=)
12g.112478007A>GCA386791734PTPN11c.1084A>G (p.Arg362Gly)
c.970A>G (p.Arg324Gly)
c.76A>G (p.Arg26Gly)
c.1081A>G (p.Arg361Gly)
12g.112478007A>TCA386791735PTPN11c.1084A>T (p.Arg362Ter)
c.970A>T (p.Arg324Ter)
c.76A>T (p.Arg26Ter)
c.1081A>T (p.Arg361Ter)
12g.112478008G>ACA386791738PTPN11c.1085G>A (p.Arg362Lys)
c.971G>A (p.Arg324Lys)
c.77G>A (p.Arg26Lys)
c.1082G>A (p.Arg361Lys)
ClinVar dbSNP
12g.112478008G>CCA386791739PTPN11c.1085G>C (p.Arg362Thr)
c.971G>C (p.Arg324Thr)
c.77G>C (p.Arg26Thr)
c.1082G>C (p.Arg361Thr)
12g.112478008G>TCA386791741PTPN11c.1085G>T (p.Arg362Ile)
c.971G>T (p.Arg324Ile)
c.77G>T (p.Arg26Ile)
c.1082G>T (p.Arg361Ile)
12g.112478009A>CCA386791743PTPN11c.1086A>C (p.Arg362Ser)
c.972A>C (p.Arg324Ser)
c.78A>C (p.Arg26Ser)
c.1083A>C (p.Arg361Ser)
12g.112478009A>GCA481888066PTPN11c.1086A>G (p.Arg362=)
c.972A>G (p.Arg324=)
c.78A>G (p.Arg26=)
c.1083A>G (p.Arg361=)
ClinVar
12g.112478009A>TCA386791745PTPN11c.1086A>T (p.Arg362Ser)
c.972A>T (p.Arg324Ser)
c.78A>T (p.Arg26Ser)
c.1083A>T (p.Arg361Ser)
12g.112478010G>ACA386791750PTPN11c.1087G>A (p.Gly363Arg)
c.973G>A (p.Gly325Arg)
c.79G>A (p.Gly27Arg)
c.1084G>A (p.Gly362Arg)
dbSNP
12g.112478010G>CCA386791749PTPN11c.1087G>C (p.Gly363Arg)
c.973G>C (p.Gly325Arg)
c.79G>C (p.Gly27Arg)
c.1084G>C (p.Gly362Arg)
12g.112478010G>TCA386791747PTPN11c.1087G>T (p.Gly363Ter)
c.973G>T (p.Gly325Ter)
c.79G>T (p.Gly27Ter)
c.1084G>T (p.Gly362Ter)
12g.112478011G>ACA386791752PTPN11c.1088G>A (p.Gly363Glu)
c.974G>A (p.Gly325Glu)
c.80G>A (p.Gly27Glu)
c.1085G>A (p.Gly362Glu)
12g.112478011G>CCA386791754PTPN11c.1088G>C (p.Gly363Ala)
c.974G>C (p.Gly325Ala)
c.80G>C (p.Gly27Ala)
c.1085G>C (p.Gly362Ala)
12g.112478011G>TCA386791756PTPN11c.1088G>T (p.Gly363Val)
c.974G>T (p.Gly325Val)
c.80G>T (p.Gly27Val)
c.1085G>T (p.Gly362Val)
12g.112478012A=CA2063775991PTPN11c.1089A= (p.Gly363=)
c.975A= (p.Gly325=)
c.81A= (p.Gly27=)
c.1086A= (p.Gly362=)
12g.112478012A>CCA481888070PTPN11c.1089A>C (p.Gly363=)
c.975A>C (p.Gly325=)
c.81A>C (p.Gly27=)
c.1086A>C (p.Gly362=)
12g.112478012A>GCA481888071PTPN11c.1089A>G (p.Gly363=)
c.975A>G (p.Gly325=)
c.81A>G (p.Gly27=)
c.1086A>G (p.Gly362=)
ClinVar dbSNP
12g.112478012A>TCA481888072PTPN11c.1089A>T (p.Gly363=)
c.975A>T (p.Gly325=)
c.81A>T (p.Gly27=)
c.1086A>T (p.Gly362=)
12g.112478013A>CCA386791757PTPN11c.1090A>C (p.Lys364Gln)
c.976A>C (p.Lys326Gln)
c.82A>C (p.Lys28Gln)
c.1087A>C (p.Lys363Gln)
12g.112478013A>GCA386791758PTPN11c.1090A>G (p.Lys364Glu)
c.976A>G (p.Lys326Glu)
c.82A>G (p.Lys28Glu)
c.1087A>G (p.Lys363Glu)
12g.112478013A>TCA386791761PTPN11c.1090A>T (p.Lys364Ter)
c.976A>T (p.Lys326Ter)
c.82A>T (p.Lys28Ter)
c.1087A>T (p.Lys363Ter)
12g.112478014A=CA2063775992PTPN11c.1091A= (p.Lys364=)
c.977A= (p.Lys326=)
c.83A= (p.Lys28=)
c.1088A= (p.Lys363=)
12g.112478014A>CCA386791765PTPN11c.1091A>C (p.Lys364Thr)
c.977A>C (p.Lys326Thr)
c.83A>C (p.Lys28Thr)
c.1088A>C (p.Lys363Thr)
12g.112478014A>GCA243712056PTPN11c.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
12g.112478014A>TCA386791764PTPN11c.1091A>T (p.Lys364Met)
c.977A>T (p.Lys326Met)
c.83A>T (p.Lys28Met)
c.1088A>T (p.Lys363Met)
COSMIC
12g.112478015G>ACA481888077PTPN11c.1092G>A (p.Lys364=)
c.978G>A (p.Lys326=)
c.84G>A (p.Lys28=)
c.1089G>A (p.Lys363=)
dbSNP
12g.112478015G>CCA386791767PTPN11c.1092G>C (p.Lys364Asn)
c.978G>C (p.Lys326Asn)
c.84G>C (p.Lys28Asn)
c.1089G>C (p.Lys363Asn)
12g.112478015G>TCA386791769PTPN11c.1092G>T (p.Lys364Asn)
c.978G>T (p.Lys326Asn)
c.84G>T (p.Lys28Asn)
c.1089G>T (p.Lys363Asn)
12g.112478016G>ACA386791776PTPN11c.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
12g.112478016G>CCA386791778PTPN11c.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)
12g.112478016G>TCA386791779PTPN11c.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)
12g.112478017T>ACA386791782PTPN11c.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)
12g.112478017T>CCA386791784PTPN11c.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
12g.112478017T>GCA386791783PTPN11c.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)
12g.112478022C>ACA607380057PTPN11c.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
12g.112478022C=CA2063775993PTPN11c.1092+7C= (n.1092+7C=)
c.978+7C= (n.978+7C=)
c.84+7C= (n.84+7C=)
c.1089+7C= (n.1089+7C=)
12g.112478024C=CA2063775994PTPN11c.1092+9C= (n.1092+9C=)
c.978+9C= (n.978+9C=)
c.84+9C= (n.84+9C=)
c.1089+9C= (n.1089+9C=)
12g.112478024C>TCA6798707PTPN11c.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
12g.112478025A=CA2063775995PTPN11c.1092+10A= (n.1092+10A=)
c.978+10A= (n.978+10A=)
c.84+10A= (n.84+10A=)
c.1089+10A= (n.1089+10A=)
12g.112478025A>CCA2621024694PTPN11c.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
12g.112478025A>GCA6798708PTPN11c.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
12g.112478025A>TCA2621024695PTPN11c.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
12g.112478027A=CA2063775996PTPN11c.1092+12A= (n.1092+12A=)
c.978+12A= (n.978+12A=)
c.84+12A= (n.84+12A=)
c.1089+12A= (n.1089+12A=)
12g.112478027A>CCA683696483PTPN11c.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
12g.112478030C>TCA2575298856PTPN11c.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)
12g.112478033_112478035delCA2575298854PTPN11c.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)
12g.112478031T>CCA6798709PTPN11c.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
12g.112478031T=CA2063775997PTPN11c.1092+16T= (n.1092+16T=)
c.978+16T= (n.978+16T=)
c.84+16T= (n.84+16T=)
c.1089+16T= (n.1089+16T=)
12g.112478033C>ACA2575298859PTPN11c.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
12g.112478033C>GCA2621024696PTPN11c.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
12g.112478033C>TCA2621024697PTPN11c.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
12g.112478035T>GCA2621024698PTPN11c.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
12g.112478038C=CA2063775999PTPN11c.1092+23C= (n.1092+23C=)
c.978+23C= (n.978+23C=)
c.84+23C= (n.84+23C=)
c.1089+23C= (n.1089+23C=)
12g.112478038C>GCA6798710PTPN11c.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
12g.112478038C>TCA2063775998PTPN11c.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
12g.112478040G>ACA607380063PTPN11c.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
12g.112478040G=CA2063776000PTPN11c.1092+25G= (n.1092+25G=)
c.978+25G= (n.978+25G=)
c.84+25G= (n.84+25G=)
c.1089+25G= (n.1089+25G=)
12g.112478040G>TCA655255912PTPN11c.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
12g.112478043A=CA2063776001PTPN11c.1092+28A= (n.1092+28A=)
c.978+28A= (n.978+28A=)
c.84+28A= (n.84+28A=)
c.1089+28A= (n.1089+28A=)
12g.112478043A>CCA951951259PTPN11c.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
12g.112478043A>GCA6798711PTPN11c.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
12g.112478046C=CA2063776002PTPN11c.1092+31C= (n.1092+31C=)
c.978+31C= (n.978+31C=)
c.84+31C= (n.84+31C=)
c.1089+31C= (n.1089+31C=)
12g.112478046C>TCA6798712PTPN11c.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
12g.112478047T>ACA2621024700PTPN11c.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
12g.112478047T>CCA6798713PTPN11c.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
12g.112478047T>GCA243712065PTPN11c.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
12g.112478047T=CA2063776003PTPN11c.1092+32T= (n.1092+32T=)
c.978+32T= (n.978+32T=)
c.84+32T= (n.84+32T=)
c.1089+32T= (n.1089+32T=)
12g.112478048G>ACA607380068PTPN11c.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
12g.112478048_112478049delinsGTCA2063776004PTPN11c.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)
12g.112478049T>CCA6798715PTPN11c.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
12g.112478049T=CA2063776006PTPN11c.1092+34T= (n.1092+34T=)
c.978+34T= (n.978+34T=)
c.84+34T= (n.84+34T=)
c.1089+34T= (n.1089+34T=)
12g.112478053dupCA6798714PTPN11c.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
12g.112478053delCA2063776005PTPN11c.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
12g.112478051T>CCA2797498056PTPN11c.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)
12g.112478054A=CA2063776007PTPN11c.1092+39A= (n.1092+39A=)
c.978+39A= (n.978+39A=)
c.84+39A= (n.84+39A=)
c.1089+39A= (n.1089+39A=)
12g.112478054A>GCA607380072PTPN11c.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
12g.112478055A=CA2063776008PTPN11c.1092+40A= (n.1092+40A=)
c.978+40A= (n.978+40A=)
c.84+40A= (n.84+40A=)
c.1089+40A= (n.1089+40A=)
12g.112478055A>GCA6798716PTPN11c.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
12g.112478058T>CCA2575298864PTPN11c.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)
12g.112478060T>CCA6798717PTPN11c.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
12g.112478060T=CA2063776009PTPN11c.1092+45T= (n.1092+45T=)
c.978+45T= (n.978+45T=)
c.84+45T= (n.84+45T=)
c.1089+45T= (n.1089+45T=)
12g.112478061C>ACA2621024705PTPN11c.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
12g.112478061C=CA2063776010PTPN11c.1092+46C= (n.1092+46C=)
c.978+46C= (n.978+46C=)
c.84+46C= (n.84+46C=)
c.1089+46C= (n.1089+46C=)
12g.112478061C>GCA6798718PTPN11c.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
12g.112478061C>TCA2063776011PTPN11c.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
12g.112478062A>GCA2621024706PTPN11c.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
12g.112478062A>TCA2575298867PTPN11c.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
12g.112478063G>ACA2621024708PTPN11c.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
12g.112478064A=CA2063776012PTPN11c.1092+49A= (n.1092+49A=)
c.978+49A= (n.978+49A=)
c.84+49A= (n.84+49A=)
c.1089+49A= (n.1089+49A=)
12g.112478064A>GCA951951279PTPN11c.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
12g.112478065C=CA2063776013PTPN11c.1092+50C= (n.1092+50C=)
c.978+50C= (n.978+50C=)
c.84+50C= (n.84+50C=)
c.1089+50C= (n.1089+50C=)
12g.112478065C>GCA2621024710PTPN11c.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
12g.112478065C>TCA6798719PTPN11c.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
12g.112478066A=CA2063776014PTPN11c.1092+51A= (n.1092+51A=)
c.978+51A= (n.978+51A=)
c.84+51A= (n.84+51A=)
c.1089+51A= (n.1089+51A=)
12g.112478066A>GCA607380083PTPN11c.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
12g.112478067T>GCA2575298870PTPN11c.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)
12g.112478069T>ACA2063776016PTPN11c.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
12g.112478069T>GCA683696531PTPN11c.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
12g.112478069T=CA2063776015PTPN11c.1092+54T= (n.1092+54T=)
c.978+54T= (n.978+54T=)
c.84+54T= (n.84+54T=)
c.1089+54T= (n.1089+54T=)
12g.112478070C>ACA2621024711PTPN11c.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
12g.112478071A>CCA2621024712PTPN11c.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
12g.112478071A>GCA2797498057PTPN11c.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)
12g.112478071A>TCA2575298872PTPN11c.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
12g.112478072G>ACA2621024714PTPN11c.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
12g.112478072G>TCA2621024716PTPN11c.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
12g.112478073A=CA2063776017PTPN11c.1092+58A= (n.1092+58A=)
c.978+58A= (n.978+58A=)
c.84+58A= (n.84+58A=)
c.1089+58A= (n.1089+58A=)
12g.112478073A>GCA951951286PTPN11c.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
12g.112478074T>CCA2621024717PTPN11c.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

Number of alleles fetched