Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.113829910_113829911delinsATCA1189920222AP4B1-AS1,PTPN22c.2134+38_2134+39delinsAT (n.2134+38_2134+39delinsAT)
c.469-10257_469-10256delinsAT (n.469-10257_469-10256delinsAT)
c.1753+38_1753+39delinsAT (n.1753+38_1753+39delinsAT)
c.1969+38_1969+39delinsAT (n.1969+38_1969+39delinsAT)
c.*1412+38_*1412+39delinsAT (n.*1412+38_*1412+39delinsAT)
c.2062+38_2062+39delinsAT (n.2062+38_2062+39delinsAT)
c.2050+38_2050+39delinsAT (n.2050+38_2050+39delinsAT)
n.414+14438_414+14439delinsAT
c.2056+38_2056+39delinsAT (n.2056+38_2056+39delinsAT)
c.1690+38_1690+39delinsAT (n.1690+38_1690+39delinsAT)
c.1789+38_1789+39delinsAT (n.1789+38_1789+39delinsAT)
1g.113829911T>ACA2647206843AP4B1-AS1,PTPN22c.2134+38A>T (n.2134+38A>T)
c.469-10257A>T (n.469-10257A>T)
c.1753+38A>T (n.1753+38A>T)
c.1969+38A>T (n.1969+38A>T)
c.*1412+38A>T (n.*1412+38A>T)
c.2062+38A>T (n.2062+38A>T)
c.2050+38A>T (n.2050+38A>T)
n.414+14439T>A
c.2056+38A>T (n.2056+38A>T)
c.1690+38A>T (n.1690+38A>T)
c.1789+38A>T (n.1789+38A>T)
 gnomAD v4
1g.113829911T>CCA1014813AP4B1-AS1,PTPN22c.2134+38A>G (n.2134+38A>G)
c.469-10257A>G (n.469-10257A>G)
c.1753+38A>G (n.1753+38A>G)
c.1969+38A>G (n.1969+38A>G)
c.*1412+38A>G (n.*1412+38A>G)
c.2062+38A>G (n.2062+38A>G)
c.2050+38A>G (n.2050+38A>G)
n.414+14439T>C
c.2056+38A>G (n.2056+38A>G)
c.1690+38A>G (n.1690+38A>G)
c.1789+38A>G (n.1789+38A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.113829911T=CA1189920223AP4B1-AS1,PTPN22c.2134+38A= (n.2134+38A=)
c.469-10257A= (n.469-10257A=)
c.1753+38A= (n.1753+38A=)
c.1969+38A= (n.1969+38A=)
c.*1412+38A= (n.*1412+38A=)
c.2062+38A= (n.2062+38A=)
c.2050+38A= (n.2050+38A=)
n.414+14439T=
c.2056+38A= (n.2056+38A=)
c.1690+38A= (n.1690+38A=)
c.1789+38A= (n.1789+38A=)
1g.113829915delCA1014812AP4B1-AS1,PTPN22c.2134+38del (n.2134+38del)
c.469-10257del (n.469-10257del)
c.1753+38del (n.1753+38del)
c.1969+38del (n.1969+38del)
c.*1412+38del (n.*1412+38del)
c.2062+38del (n.2062+38del)
c.2050+38del (n.2050+38del)
n.414+14443del
c.2056+38del (n.2056+38del)
c.1690+38del (n.1690+38del)
c.1789+38del (n.1789+38del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.113829913T>CCA2574032901AP4B1-AS1,PTPN22c.2134+36A>G (n.2134+36A>G)
c.469-10259A>G (n.469-10259A>G)
c.1753+36A>G (n.1753+36A>G)
c.1969+36A>G (n.1969+36A>G)
c.*1412+36A>G (n.*1412+36A>G)
c.2062+36A>G (n.2062+36A>G)
c.2050+36A>G (n.2050+36A>G)
n.414+14441T>C
c.2056+36A>G (n.2056+36A>G)
c.1690+36A>G (n.1690+36A>G)
c.1789+36A>G (n.1789+36A>G)
1g.113829915T>CCA2647206844AP4B1-AS1,PTPN22c.2134+34A>G (n.2134+34A>G)
c.469-10261A>G (n.469-10261A>G)
c.1753+34A>G (n.1753+34A>G)
c.1969+34A>G (n.1969+34A>G)
c.*1412+34A>G (n.*1412+34A>G)
c.2062+34A>G (n.2062+34A>G)
c.2050+34A>G (n.2050+34A>G)
n.414+14443T>C
c.2056+34A>G (n.2056+34A>G)
c.1690+34A>G (n.1690+34A>G)
c.1789+34A>G (n.1789+34A>G)
 gnomAD v4
1g.113829916A=CA1189920224AP4B1-AS1,PTPN22c.2134+33T= (n.2134+33T=)
c.469-10262T= (n.469-10262T=)
c.1753+33T= (n.1753+33T=)
c.1969+33T= (n.1969+33T=)
c.*1412+33T= (n.*1412+33T=)
c.2062+33T= (n.2062+33T=)
c.2050+33T= (n.2050+33T=)
n.414+14444A=
c.2056+33T= (n.2056+33T=)
c.1690+33T= (n.1690+33T=)
c.1789+33T= (n.1789+33T=)
1g.113829916A>GCA28977157AP4B1-AS1,PTPN22c.2134+33T>C (n.2134+33T>C)
c.469-10262T>C (n.469-10262T>C)
c.1753+33T>C (n.1753+33T>C)
c.1969+33T>C (n.1969+33T>C)
c.*1412+33T>C (n.*1412+33T>C)
c.2062+33T>C (n.2062+33T>C)
c.2050+33T>C (n.2050+33T>C)
n.414+14444A>G
c.2056+33T>C (n.2056+33T>C)
c.1690+33T>C (n.1690+33T>C)
c.1789+33T>C (n.1789+33T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.113829917T>CCA2745112905AP4B1-AS1,PTPN22c.2134+32A>G (n.2134+32A>G)
c.469-10263A>G (n.469-10263A>G)
c.1753+32A>G (n.1753+32A>G)
c.1969+32A>G (n.1969+32A>G)
c.*1412+32A>G (n.*1412+32A>G)
c.2062+32A>G (n.2062+32A>G)
c.2050+32A>G (n.2050+32A>G)
n.414+14445T>C
c.2056+32A>G (n.2056+32A>G)
c.1690+32A>G (n.1690+32A>G)
c.1789+32A>G (n.1789+32A>G)
1g.113829918G>ACA2647206845AP4B1-AS1,PTPN22c.2134+31C>T (n.2134+31C>T)
c.469-10264C>T (n.469-10264C>T)
c.1753+31C>T (n.1753+31C>T)
c.1969+31C>T (n.1969+31C>T)
c.*1412+31C>T (n.*1412+31C>T)
c.2062+31C>T (n.2062+31C>T)
c.2050+31C>T (n.2050+31C>T)
n.414+14446G>A
c.2056+31C>T (n.2056+31C>T)
c.1690+31C>T (n.1690+31C>T)
c.1789+31C>T (n.1789+31C>T)
 gnomAD v4
1g.113829918G>TCA2647206846AP4B1-AS1,PTPN22c.2134+31C>A (n.2134+31C>A)
c.469-10264C>A (n.469-10264C>A)
c.1753+31C>A (n.1753+31C>A)
c.1969+31C>A (n.1969+31C>A)
c.*1412+31C>A (n.*1412+31C>A)
c.2062+31C>A (n.2062+31C>A)
c.2050+31C>A (n.2050+31C>A)
n.414+14446G>T
c.2056+31C>A (n.2056+31C>A)
c.1690+31C>A (n.1690+31C>A)
c.1789+31C>A (n.1789+31C>A)
 gnomAD v4
1g.113829918_113829919delinsGACA1189920225AP4B1-AS1,PTPN22c.2134+30_2134+31delinsTC (n.2134+30_2134+31delinsTC)
c.469-10265_469-10264delinsTC (n.469-10265_469-10264delinsTC)
c.1753+30_1753+31delinsTC (n.1753+30_1753+31delinsTC)
c.1969+30_1969+31delinsTC (n.1969+30_1969+31delinsTC)
c.*1412+30_*1412+31delinsTC (n.*1412+30_*1412+31delinsTC)
c.2062+30_2062+31delinsTC (n.2062+30_2062+31delinsTC)
c.2050+30_2050+31delinsTC (n.2050+30_2050+31delinsTC)
n.414+14446_414+14447delinsGA
c.2056+30_2056+31delinsTC (n.2056+30_2056+31delinsTC)
c.1690+30_1690+31delinsTC (n.1690+30_1690+31delinsTC)
c.1789+30_1789+31delinsTC (n.1789+30_1789+31delinsTC)
1g.113829919delCA28977159AP4B1-AS1,PTPN22c.2134+30del (n.2134+30del)
c.469-10265del (n.469-10265del)
c.1753+30del (n.1753+30del)
c.1969+30del (n.1969+30del)
c.*1412+30del (n.*1412+30del)
c.2062+30del (n.2062+30del)
c.2050+30del (n.2050+30del)
n.414+14447del
c.2056+30del (n.2056+30del)
c.1690+30del (n.1690+30del)
c.1789+30del (n.1789+30del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.113829919A=CA1189920226AP4B1-AS1,PTPN22c.2134+30T= (n.2134+30T=)
c.469-10265T= (n.469-10265T=)
c.1753+30T= (n.1753+30T=)
c.1969+30T= (n.1969+30T=)
c.*1412+30T= (n.*1412+30T=)
c.2062+30T= (n.2062+30T=)
c.2050+30T= (n.2050+30T=)
n.414+14447A=
c.2056+30T= (n.2056+30T=)
c.1690+30T= (n.1690+30T=)
c.1789+30T= (n.1789+30T=)
1g.113829920T>CCA525392382AP4B1-AS1,PTPN22c.2134+29A>G (n.2134+29A>G)
c.469-10266A>G (n.469-10266A>G)
c.1753+29A>G (n.1753+29A>G)
c.1969+29A>G (n.1969+29A>G)
c.*1412+29A>G (n.*1412+29A>G)
c.2062+29A>G (n.2062+29A>G)
c.2050+29A>G (n.2050+29A>G)
n.414+14448T>C
c.2056+29A>G (n.2056+29A>G)
c.1690+29A>G (n.1690+29A>G)
c.1789+29A>G (n.1789+29A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.113829920T=CA1189920227AP4B1-AS1,PTPN22c.2134+29A= (n.2134+29A=)
c.469-10266A= (n.469-10266A=)
c.1753+29A= (n.1753+29A=)
c.1969+29A= (n.1969+29A=)
c.*1412+29A= (n.*1412+29A=)
c.2062+29A= (n.2062+29A=)
c.2050+29A= (n.2050+29A=)
n.414+14448T=
c.2056+29A= (n.2056+29A=)
c.1690+29A= (n.1690+29A=)
c.1789+29A= (n.1789+29A=)
1g.113829926dupCA1014814AP4B1-AS1,PTPN22c.2134+29dup (n.2134+29dup)
c.469-10266dup (n.469-10266dup)
c.1753+29dup (n.1753+29dup)
c.1969+29dup (n.1969+29dup)
c.*1412+29dup (n.*1412+29dup)
c.2062+29dup (n.2062+29dup)
c.2050+29dup (n.2050+29dup)
n.414+14454dup
c.2056+29dup (n.2056+29dup)
c.1690+29dup (n.1690+29dup)
c.1789+29dup (n.1789+29dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.113829926delCA2647206847AP4B1-AS1,PTPN22c.2134+29del (n.2134+29del)
c.469-10266del (n.469-10266del)
c.1753+29del (n.1753+29del)
c.1969+29del (n.1969+29del)
c.*1412+29del (n.*1412+29del)
c.2062+29del (n.2062+29del)
c.2050+29del (n.2050+29del)
n.414+14454del
c.2056+29del (n.2056+29del)
c.1690+29del (n.1690+29del)
c.1789+29del (n.1789+29del)
 gnomAD v4
1g.113829922T>CCA1189920229AP4B1-AS1,PTPN22c.2134+27A>G (n.2134+27A>G)
c.469-10268A>G (n.469-10268A>G)
c.1753+27A>G (n.1753+27A>G)
c.1969+27A>G (n.1969+27A>G)
c.*1412+27A>G (n.*1412+27A>G)
c.2062+27A>G (n.2062+27A>G)
c.2050+27A>G (n.2050+27A>G)
n.414+14450T>C
c.2056+27A>G (n.2056+27A>G)
c.1690+27A>G (n.1690+27A>G)
c.1789+27A>G (n.1789+27A>G)
 dbSNP
1g.113829922T=CA1189920228AP4B1-AS1,PTPN22c.2134+27A= (n.2134+27A=)
c.469-10268A= (n.469-10268A=)
c.1753+27A= (n.1753+27A=)
c.1969+27A= (n.1969+27A=)
c.*1412+27A= (n.*1412+27A=)
c.2062+27A= (n.2062+27A=)
c.2050+27A= (n.2050+27A=)
n.414+14450T=
c.2056+27A= (n.2056+27A=)
c.1690+27A= (n.1690+27A=)
c.1789+27A= (n.1789+27A=)
1g.113829924T>ACA525392383AP4B1-AS1,PTPN22c.2134+25A>T (n.2134+25A>T)
c.469-10270A>T (n.469-10270A>T)
c.1753+25A>T (n.1753+25A>T)
c.1969+25A>T (n.1969+25A>T)
c.*1412+25A>T (n.*1412+25A>T)
c.2062+25A>T (n.2062+25A>T)
c.2050+25A>T (n.2050+25A>T)
n.414+14452T>A
c.2056+25A>T (n.2056+25A>T)
c.1690+25A>T (n.1690+25A>T)
c.1789+25A>T (n.1789+25A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.113829924T=CA1189920230AP4B1-AS1,PTPN22c.2134+25A= (n.2134+25A=)
c.469-10270A= (n.469-10270A=)
c.1753+25A= (n.1753+25A=)
c.1969+25A= (n.1969+25A=)
c.*1412+25A= (n.*1412+25A=)
c.2062+25A= (n.2062+25A=)
c.2050+25A= (n.2050+25A=)
n.414+14452T=
c.2056+25A= (n.2056+25A=)
c.1690+25A= (n.1690+25A=)
c.1789+25A= (n.1789+25A=)
1g.113829925T>CCA525392384AP4B1-AS1,PTPN22c.2134+24A>G (n.2134+24A>G)
c.469-10271A>G (n.469-10271A>G)
c.1753+24A>G (n.1753+24A>G)
c.1969+24A>G (n.1969+24A>G)
c.*1412+24A>G (n.*1412+24A>G)
c.2062+24A>G (n.2062+24A>G)
c.2050+24A>G (n.2050+24A>G)
n.414+14453T>C
c.2056+24A>G (n.2056+24A>G)
c.1690+24A>G (n.1690+24A>G)
c.1789+24A>G (n.1789+24A>G)
 dbSNP gnomAD v2
1g.113829925T=CA1189920231AP4B1-AS1,PTPN22c.2134+24A= (n.2134+24A=)
c.469-10271A= (n.469-10271A=)
c.1753+24A= (n.1753+24A=)
c.1969+24A= (n.1969+24A=)
c.*1412+24A= (n.*1412+24A=)
c.2062+24A= (n.2062+24A=)
c.2050+24A= (n.2050+24A=)
n.414+14453T=
c.2056+24A= (n.2056+24A=)
c.1690+24A= (n.1690+24A=)
c.1789+24A= (n.1789+24A=)
1g.113829927G>CCA1014815AP4B1-AS1,PTPN22c.2134+22C>G (n.2134+22C>G)
c.469-10273C>G (n.469-10273C>G)
c.1753+22C>G (n.1753+22C>G)
c.1969+22C>G (n.1969+22C>G)
c.*1412+22C>G (n.*1412+22C>G)
c.2062+22C>G (n.2062+22C>G)
c.2050+22C>G (n.2050+22C>G)
n.414+14455G>C
c.2056+22C>G (n.2056+22C>G)
c.1690+22C>G (n.1690+22C>G)
c.1789+22C>G (n.1789+22C>G)
 dbSNP ExAC gnomAD v2
1g.113829927G=CA1148227609AP4B1-AS1,PTPN22c.2134+22C= (n.2134+22C=)
c.469-10273C= (n.469-10273C=)
c.1753+22C= (n.1753+22C=)
c.1969+22C= (n.1969+22C=)
c.*1412+22C= (n.*1412+22C=)
c.2062+22C= (n.2062+22C=)
c.2050+22C= (n.2050+22C=)
n.414+14455G=
c.2056+22C= (n.2056+22C=)
c.1690+22C= (n.1690+22C=)
c.1789+22C= (n.1789+22C=)
1g.113829927G>TCA2647206850AP4B1-AS1,PTPN22c.2134+22C>A (n.2134+22C>A)
c.469-10273C>A (n.469-10273C>A)
c.1753+22C>A (n.1753+22C>A)
c.1969+22C>A (n.1969+22C>A)
c.*1412+22C>A (n.*1412+22C>A)
c.2062+22C>A (n.2062+22C>A)
c.2050+22C>A (n.2050+22C>A)
n.414+14455G>T
c.2056+22C>A (n.2056+22C>A)
c.1690+22C>A (n.1690+22C>A)
c.1789+22C>A (n.1789+22C>A)
 gnomAD v4
1g.113829931_113829932delCA2647206848AP4B1-AS1,PTPN22c.2134+21_2134+22del (n.2134+21_2134+22del)
c.469-10274_469-10273del (n.469-10274_469-10273del)
c.1753+21_1753+22del (n.1753+21_1753+22del)
c.1969+21_1969+22del (n.1969+21_1969+22del)
c.*1412+21_*1412+22del (n.*1412+21_*1412+22del)
c.2062+21_2062+22del (n.2062+21_2062+22del)
c.2050+21_2050+22del (n.2050+21_2050+22del)
n.414+14459_414+14460del
c.2056+21_2056+22del (n.2056+21_2056+22del)
c.1690+21_1690+22del (n.1690+21_1690+22del)
c.1789+21_1789+22del (n.1789+21_1789+22del)
 gnomAD v4
1g.113829927_113829935delCA2647206849AP4B1-AS1,PTPN22c.2134+14_2134+22del (n.2134+14_2134+22del)
c.469-10281_469-10273del (n.469-10281_469-10273del)
c.1753+14_1753+22del (n.1753+14_1753+22del)
c.1969+14_1969+22del (n.1969+14_1969+22del)
c.*1412+14_*1412+22del (n.*1412+14_*1412+22del)
c.2062+14_2062+22del (n.2062+14_2062+22del)
c.2050+14_2050+22del (n.2050+14_2050+22del)
n.414+14455_414+14463del
c.2056+14_2056+22del (n.2056+14_2056+22del)
c.1690+14_1690+22del (n.1690+14_1690+22del)
c.1789+14_1789+22del (n.1789+14_1789+22del)
 gnomAD v4
1g.113829928_113829929insCAAAATCCTTTATTTATAACA2535535368AP4B1-AS1,PTPN22c.2134+21_2134+22insTATAAATAAAGGATTTTGT (n.2134+21_2134+22insTATAAATAAAGGATTTTGT)
c.469-10274_469-10273insTATAAATAAAGGATTTTGT (n.469-10274_469-10273insTATAAATAAAGGATTTTGT)
c.1753+21_1753+22insTATAAATAAAGGATTTTGT (n.1753+21_1753+22insTATAAATAAAGGATTTTGT)
c.1969+21_1969+22insTATAAATAAAGGATTTTGT (n.1969+21_1969+22insTATAAATAAAGGATTTTGT)
c.*1412+21_*1412+22insTATAAATAAAGGATTTTGT (n.*1412+21_*1412+22insTATAAATAAAGGATTTTGT)
c.2062+21_2062+22insTATAAATAAAGGATTTTGT (n.2062+21_2062+22insTATAAATAAAGGATTTTGT)
c.2050+21_2050+22insTATAAATAAAGGATTTTGT (n.2050+21_2050+22insTATAAATAAAGGATTTTGT)
n.414+14456_414+14457insCAAAATCCTTTATTTATAA
c.2056+21_2056+22insTATAAATAAAGGATTTTGT (n.2056+21_2056+22insTATAAATAAAGGATTTTGT)
c.1690+21_1690+22insTATAAATAAAGGATTTTGT (n.1690+21_1690+22insTATAAATAAAGGATTTTGT)
c.1789+21_1789+22insTATAAATAAAGGATTTTGT (n.1789+21_1789+22insTATAAATAAAGGATTTTGT)
1g.113829929G>ACA1014816AP4B1-AS1,PTPN22c.2134+20C>T (n.2134+20C>T)
c.469-10275C>T (n.469-10275C>T)
c.1753+20C>T (n.1753+20C>T)
c.1969+20C>T (n.1969+20C>T)
c.*1412+20C>T (n.*1412+20C>T)
c.2062+20C>T (n.2062+20C>T)
c.2050+20C>T (n.2050+20C>T)
n.414+14457G>A
c.2056+20C>T (n.2056+20C>T)
c.1690+20C>T (n.1690+20C>T)
c.1789+20C>T (n.1789+20C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.113829929G>CCA2647206851AP4B1-AS1,PTPN22c.2134+20C>G (n.2134+20C>G)
c.469-10275C>G (n.469-10275C>G)
c.1753+20C>G (n.1753+20C>G)
c.1969+20C>G (n.1969+20C>G)
c.*1412+20C>G (n.*1412+20C>G)
c.2062+20C>G (n.2062+20C>G)
c.2050+20C>G (n.2050+20C>G)
n.414+14457G>C
c.2056+20C>G (n.2056+20C>G)
c.1690+20C>G (n.1690+20C>G)
c.1789+20C>G (n.1789+20C>G)
 gnomAD v4
1g.113829929G=CA1144002611AP4B1-AS1,PTPN22c.2134+20C= (n.2134+20C=)
c.469-10275C= (n.469-10275C=)
c.1753+20C= (n.1753+20C=)
c.1969+20C= (n.1969+20C=)
c.*1412+20C= (n.*1412+20C=)
c.2062+20C= (n.2062+20C=)
c.2050+20C= (n.2050+20C=)
n.414+14457G=
c.2056+20C= (n.2056+20C=)
c.1690+20C= (n.1690+20C=)
c.1789+20C= (n.1789+20C=)
1g.113829929G>TCA2647206852AP4B1-AS1,PTPN22c.2134+20C>A (n.2134+20C>A)
c.469-10275C>A (n.469-10275C>A)
c.1753+20C>A (n.1753+20C>A)
c.1969+20C>A (n.1969+20C>A)
c.*1412+20C>A (n.*1412+20C>A)
c.2062+20C>A (n.2062+20C>A)
c.2050+20C>A (n.2050+20C>A)
n.414+14457G>T
c.2056+20C>A (n.2056+20C>A)
c.1690+20C>A (n.1690+20C>A)
c.1789+20C>A (n.1789+20C>A)
 gnomAD v4
1g.113829930_113829931insTTTCTTTAAGATTTTTTGTAAAATATTTATCCA2522810030AP4B1-AS1,PTPN22c.2134+18_2134+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (n.2134+18_2134+19insGATAAATATTTTACAAAAAATCTTAAAGAAA)
c.469-10277_469-10276insGATAAATATTTTACAAAAAATCTTAAAGAAA (n.469-10277_469-10276insGATAAATATTTTACAAAAAATCTTAAAGAAA)
c.1753+18_1753+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (n.1753+18_1753+19insGATAAATATTTTACAAAAAATCTTAAAGAAA)
c.1969+18_1969+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (n.1969+18_1969+19insGATAAATATTTTACAAAAAATCTTAAAGAAA)
c.*1412+18_*1412+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (n.*1412+18_*1412+19insGATAAATATTTTACAAAAAATCTTAAAGAAA)
c.2062+18_2062+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (n.2062+18_2062+19insGATAAATATTTTACAAAAAATCTTAAAGAAA)
c.2050+18_2050+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (n.2050+18_2050+19insGATAAATATTTTACAAAAAATCTTAAAGAAA)
n.414+14458_414+14459insTTTCTTTAAGATTTTTTGTAAAATATTTATC
c.2056+18_2056+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (n.2056+18_2056+19insGATAAATATTTTACAAAAAATCTTAAAGAAA)
c.1690+18_1690+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (n.1690+18_1690+19insGATAAATATTTTACAAAAAATCTTAAAGAAA)
c.1789+18_1789+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (n.1789+18_1789+19insGATAAATATTTTACAAAAAATCTTAAAGAAA)
1g.113829931G>TCA2647206853AP4B1-AS1,PTPN22c.2134+18C>A (n.2134+18C>A)
c.469-10277C>A (n.469-10277C>A)
c.1753+18C>A (n.1753+18C>A)
c.1969+18C>A (n.1969+18C>A)
c.*1412+18C>A (n.*1412+18C>A)
c.2062+18C>A (n.2062+18C>A)
c.2050+18C>A (n.2050+18C>A)
n.414+14459G>T
c.2056+18C>A (n.2056+18C>A)
c.1690+18C>A (n.1690+18C>A)
c.1789+18C>A (n.1789+18C>A)
 gnomAD v4
1g.113829932A=CA1189920232AP4B1-AS1,PTPN22c.2134+17T= (n.2134+17T=)
c.469-10278T= (n.469-10278T=)
c.1753+17T= (n.1753+17T=)
c.1969+17T= (n.1969+17T=)
c.*1412+17T= (n.*1412+17T=)
c.2062+17T= (n.2062+17T=)
c.2050+17T= (n.2050+17T=)
n.414+14460A=
c.2056+17T= (n.2056+17T=)
c.1690+17T= (n.1690+17T=)
c.1789+17T= (n.1789+17T=)
1g.113829932A>GCA28977165AP4B1-AS1,PTPN22c.2134+17T>C (n.2134+17T>C)
c.469-10278T>C (n.469-10278T>C)
c.1753+17T>C (n.1753+17T>C)
c.1969+17T>C (n.1969+17T>C)
c.*1412+17T>C (n.*1412+17T>C)
c.2062+17T>C (n.2062+17T>C)
c.2050+17T>C (n.2050+17T>C)
n.414+14460A>G
c.2056+17T>C (n.2056+17T>C)
c.1690+17T>C (n.1690+17T>C)
c.1789+17T>C (n.1789+17T>C)
 dbSNP gnomAD v4
1g.113829932A>TCA2647206854AP4B1-AS1,PTPN22c.2134+17T>A (n.2134+17T>A)
c.469-10278T>A (n.469-10278T>A)
c.1753+17T>A (n.1753+17T>A)
c.1969+17T>A (n.1969+17T>A)
c.*1412+17T>A (n.*1412+17T>A)
c.2062+17T>A (n.2062+17T>A)
c.2050+17T>A (n.2050+17T>A)
n.414+14460A>T
c.2056+17T>A (n.2056+17T>A)
c.1690+17T>A (n.1690+17T>A)
c.1789+17T>A (n.1789+17T>A)
 gnomAD v4
1g.113829934delCA2647206855AP4B1-AS1,PTPN22c.2134+17del (n.2134+17del)
c.469-10278del (n.469-10278del)
c.1753+17del (n.1753+17del)
c.1969+17del (n.1969+17del)
c.*1412+17del (n.*1412+17del)
c.2062+17del (n.2062+17del)
c.2050+17del (n.2050+17del)
n.414+14462del
c.2056+17del (n.2056+17del)
c.1690+17del (n.1690+17del)
c.1789+17del (n.1789+17del)
 gnomAD v4
1g.113829934A=CA1189920233AP4B1-AS1,PTPN22c.2134+15T= (n.2134+15T=)
c.469-10280T= (n.469-10280T=)
c.1753+15T= (n.1753+15T=)
c.1969+15T= (n.1969+15T=)
c.*1412+15T= (n.*1412+15T=)
c.2062+15T= (n.2062+15T=)
c.2050+15T= (n.2050+15T=)
n.414+14462A=
c.2056+15T= (n.2056+15T=)
c.1690+15T= (n.1690+15T=)
c.1789+15T= (n.1789+15T=)
1g.113829934A>GCA1189920234AP4B1-AS1,PTPN22c.2134+15T>C (n.2134+15T>C)
c.469-10280T>C (n.469-10280T>C)
c.1753+15T>C (n.1753+15T>C)
c.1969+15T>C (n.1969+15T>C)
c.*1412+15T>C (n.*1412+15T>C)
c.2062+15T>C (n.2062+15T>C)
c.2050+15T>C (n.2050+15T>C)
n.414+14462A>G
c.2056+15T>C (n.2056+15T>C)
c.1690+15T>C (n.1690+15T>C)
c.1789+15T>C (n.1789+15T>C)
 dbSNP gnomAD v4
1g.113829934_113829935insATCTTGCAAAATATCCCTTTCTACTTCATACTGTTTGAGTAATCAACTTTTAAGGAGTTTCATATGATTTACA2525073296AP4B1-AS1,PTPN22c.2134+15_2134+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT (n.2134+15_2134+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT)
c.469-10280_469-10279insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT (n.469-10280_469-10279insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT)
c.1753+15_1753+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT (n.1753+15_1753+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT)
c.1969+15_1969+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT (n.1969+15_1969+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT)
c.*1412+15_*1412+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT (n.*1412+15_*1412+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT)
c.2062+15_2062+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT (n.2062+15_2062+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT)
c.2050+15_2050+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT (n.2050+15_2050+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT)
n.414+14462_414+14463insATCTTGCAAAATATCCCTTTCTACTTCATACTGTTTGAGTAATCAACTTTTAAGGAGTTTCATATGATTTA
c.2056+15_2056+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT (n.2056+15_2056+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT)
c.1690+15_1690+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT (n.1690+15_1690+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT)
c.1789+15_1789+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT (n.1789+15_1789+16insAAATCATATGAAACTCCTTAAAAGTTGATTACTCAAACAGTATGAAGTAGAAAGGGATATTTTGCAAGATT)
1g.113829935G>CCA2647206856AP4B1-AS1,PTPN22c.2134+14C>G (n.2134+14C>G)
c.469-10281C>G (n.469-10281C>G)
c.1753+14C>G (n.1753+14C>G)
c.1969+14C>G (n.1969+14C>G)
c.*1412+14C>G (n.*1412+14C>G)
c.2062+14C>G (n.2062+14C>G)
c.2050+14C>G (n.2050+14C>G)
n.414+14463G>C
c.2056+14C>G (n.2056+14C>G)
c.1690+14C>G (n.1690+14C>G)
c.1789+14C>G (n.1789+14C>G)
 gnomAD v4
1g.113829936T>CCA2647206857AP4B1-AS1,PTPN22c.2134+13A>G (n.2134+13A>G)
c.469-10282A>G (n.469-10282A>G)
c.1753+13A>G (n.1753+13A>G)
c.1969+13A>G (n.1969+13A>G)
c.*1412+13A>G (n.*1412+13A>G)
c.2062+13A>G (n.2062+13A>G)
c.2050+13A>G (n.2050+13A>G)
n.414+14464T>C
c.2056+13A>G (n.2056+13A>G)
c.1690+13A>G (n.1690+13A>G)
c.1789+13A>G (n.1789+13A>G)
 gnomAD v4
1g.113829937G>ACA2603474378AP4B1-AS1,PTPN22c.2134+12C>T (n.2134+12C>T)
c.469-10283C>T (n.469-10283C>T)
c.1753+12C>T (n.1753+12C>T)
c.1969+12C>T (n.1969+12C>T)
c.*1412+12C>T (n.*1412+12C>T)
c.2062+12C>T (n.2062+12C>T)
c.2050+12C>T (n.2050+12C>T)
n.414+14465G>A
c.2056+12C>T (n.2056+12C>T)
c.1690+12C>T (n.1690+12C>T)
c.1789+12C>T (n.1789+12C>T)
 dbSNP gnomAD v3
1g.113829937G>TCA2647206858AP4B1-AS1,PTPN22c.2134+12C>A (n.2134+12C>A)
c.469-10283C>A (n.469-10283C>A)
c.1753+12C>A (n.1753+12C>A)
c.1969+12C>A (n.1969+12C>A)
c.*1412+12C>A (n.*1412+12C>A)
c.2062+12C>A (n.2062+12C>A)
c.2050+12C>A (n.2050+12C>A)
n.414+14465G>T
c.2056+12C>A (n.2056+12C>A)
c.1690+12C>A (n.1690+12C>A)
c.1789+12C>A (n.1789+12C>A)
 gnomAD v4
1g.113829938C>ACA2603474379AP4B1-AS1,PTPN22c.2134+11G>T (n.2134+11G>T)
c.469-10284G>T (n.469-10284G>T)
c.1753+11G>T (n.1753+11G>T)
c.1969+11G>T (n.1969+11G>T)
c.*1412+11G>T (n.*1412+11G>T)
c.2062+11G>T (n.2062+11G>T)
c.2050+11G>T (n.2050+11G>T)
n.414+14466C>A
c.2056+11G>T (n.2056+11G>T)
c.1690+11G>T (n.1690+11G>T)
c.1789+11G>T (n.1789+11G>T)
 dbSNP gnomAD v3 gnomAD v4
1g.113829938C=CA1189920235AP4B1-AS1,PTPN22c.2134+11G= (n.2134+11G=)
c.469-10284G= (n.469-10284G=)
c.1753+11G= (n.1753+11G=)
c.1969+11G= (n.1969+11G=)
c.*1412+11G= (n.*1412+11G=)
c.2062+11G= (n.2062+11G=)
c.2050+11G= (n.2050+11G=)
n.414+14466C=
c.2056+11G= (n.2056+11G=)
c.1690+11G= (n.1690+11G=)
c.1789+11G= (n.1789+11G=)
1g.113829938C>GCA2647206859AP4B1-AS1,PTPN22c.2134+11G>C (n.2134+11G>C)
c.469-10284G>C (n.469-10284G>C)
c.1753+11G>C (n.1753+11G>C)
c.1969+11G>C (n.1969+11G>C)
c.*1412+11G>C (n.*1412+11G>C)
c.2062+11G>C (n.2062+11G>C)
c.2050+11G>C (n.2050+11G>C)
n.414+14466C>G
c.2056+11G>C (n.2056+11G>C)
c.1690+11G>C (n.1690+11G>C)
c.1789+11G>C (n.1789+11G>C)
 gnomAD v4
1g.113829938C>TCA525392385AP4B1-AS1,PTPN22c.2134+11G>A (n.2134+11G>A)
c.469-10284G>A (n.469-10284G>A)
c.1753+11G>A (n.1753+11G>A)
c.1969+11G>A (n.1969+11G>A)
c.*1412+11G>A (n.*1412+11G>A)
c.2062+11G>A (n.2062+11G>A)
c.2050+11G>A (n.2050+11G>A)
n.414+14466C>T
c.2056+11G>A (n.2056+11G>A)
c.1690+11G>A (n.1690+11G>A)
c.1789+11G>A (n.1789+11G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.113829939T>CCA2647206860AP4B1-AS1,PTPN22c.2134+10A>G (n.2134+10A>G)
c.469-10285A>G (n.469-10285A>G)
c.1753+10A>G (n.1753+10A>G)
c.1969+10A>G (n.1969+10A>G)
c.*1412+10A>G (n.*1412+10A>G)
c.2062+10A>G (n.2062+10A>G)
c.2050+10A>G (n.2050+10A>G)
n.414+14467T>C
c.2056+10A>G (n.2056+10A>G)
c.1690+10A>G (n.1690+10A>G)
c.1789+10A>G (n.1789+10A>G)
 gnomAD v4
1g.113829941C>ACA2647206861AP4B1-AS1,PTPN22c.2134+8G>T (n.2134+8G>T)
c.469-10287G>T (n.469-10287G>T)
c.1753+8G>T (n.1753+8G>T)
c.1969+8G>T (n.1969+8G>T)
c.*1412+8G>T (n.*1412+8G>T)
c.2062+8G>T (n.2062+8G>T)
c.2050+8G>T (n.2050+8G>T)
n.414+14469C>A
c.2056+8G>T (n.2056+8G>T)
c.1690+8G>T (n.1690+8G>T)
c.1789+8G>T (n.1789+8G>T)
 gnomAD v4
1g.113829941C>GCA2564563922AP4B1-AS1,PTPN22c.2134+8G>C (n.2134+8G>C)
c.469-10287G>C (n.469-10287G>C)
c.1753+8G>C (n.1753+8G>C)
c.1969+8G>C (n.1969+8G>C)
c.*1412+8G>C (n.*1412+8G>C)
c.2062+8G>C (n.2062+8G>C)
c.2050+8G>C (n.2050+8G>C)
n.414+14469C>G
c.2056+8G>C (n.2056+8G>C)
c.1690+8G>C (n.1690+8G>C)
c.1789+8G>C (n.1789+8G>C)
1g.113829942C>TCA2647206862AP4B1-AS1,PTPN22c.2134+7G>A (n.2134+7G>A)
c.469-10288G>A (n.469-10288G>A)
c.1753+7G>A (n.1753+7G>A)
c.1969+7G>A (n.1969+7G>A)
c.*1412+7G>A (n.*1412+7G>A)
c.2062+7G>A (n.2062+7G>A)
c.2050+7G>A (n.2050+7G>A)
n.414+14470C>T
c.2056+7G>A (n.2056+7G>A)
c.1690+7G>A (n.1690+7G>A)
c.1789+7G>A (n.1789+7G>A)
 gnomAD v4
1g.113829943A=CA1189920236AP4B1-AS1,PTPN22c.2134+6T= (n.2134+6T=)
c.469-10289T= (n.469-10289T=)
c.1753+6T= (n.1753+6T=)
c.1969+6T= (n.1969+6T=)
c.*1412+6T= (n.*1412+6T=)
c.2062+6T= (n.2062+6T=)
c.2050+6T= (n.2050+6T=)
n.414+14471A=
c.2056+6T= (n.2056+6T=)
c.1690+6T= (n.1690+6T=)
c.1789+6T= (n.1789+6T=)
1g.113829943A>GCA1014817AP4B1-AS1,PTPN22c.2134+6T>C (n.2134+6T>C)
c.469-10289T>C (n.469-10289T>C)
c.1753+6T>C (n.1753+6T>C)
c.1969+6T>C (n.1969+6T>C)
c.*1412+6T>C (n.*1412+6T>C)
c.2062+6T>C (n.2062+6T>C)
c.2050+6T>C (n.2050+6T>C)
n.414+14471A>G
c.2056+6T>C (n.2056+6T>C)
c.1690+6T>C (n.1690+6T>C)
c.1789+6T>C (n.1789+6T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.113829944C=CA1189920237AP4B1-AS1,PTPN22c.2134+5G= (n.2134+5G=)
c.469-10290G= (n.469-10290G=)
c.1753+5G= (n.1753+5G=)
c.1969+5G= (n.1969+5G=)
c.*1412+5G= (n.*1412+5G=)
c.2062+5G= (n.2062+5G=)
c.2050+5G= (n.2050+5G=)
n.414+14472C=
c.2056+5G= (n.2056+5G=)
c.1690+5G= (n.1690+5G=)
c.1789+5G= (n.1789+5G=)
1g.113829944C>TCA28977167AP4B1-AS1,PTPN22c.2134+5G>A (n.2134+5G>A)
c.469-10290G>A (n.469-10290G>A)
c.1753+5G>A (n.1753+5G>A)
c.1969+5G>A (n.1969+5G>A)
c.*1412+5G>A (n.*1412+5G>A)
c.2062+5G>A (n.2062+5G>A)
c.2050+5G>A (n.2050+5G>A)
n.414+14472C>T
c.2056+5G>A (n.2056+5G>A)
c.1690+5G>A (n.1690+5G>A)
c.1789+5G>A (n.1789+5G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.113829947A>CCA341701594AP4B1-AS1,PTPN22c.2134+2T>G (n.2134+2T>G)
c.469-10293T>G (n.469-10293T>G)
c.1753+2T>G (n.1753+2T>G)
c.1969+2T>G (n.1969+2T>G)
c.*1412+2T>G (n.*1412+2T>G)
c.2062+2T>G (n.2062+2T>G)
c.2050+2T>G (n.2050+2T>G)
n.414+14475A>C
c.2056+2T>G (n.2056+2T>G)
c.1690+2T>G (n.1690+2T>G)
c.1789+2T>G (n.1789+2T>G)
1g.113829947A>GCA341701588AP4B1-AS1,PTPN22c.2134+2T>C (n.2134+2T>C)
c.469-10293T>C (n.469-10293T>C)
c.1753+2T>C (n.1753+2T>C)
c.1969+2T>C (n.1969+2T>C)
c.*1412+2T>C (n.*1412+2T>C)
c.2062+2T>C (n.2062+2T>C)
c.2050+2T>C (n.2050+2T>C)
n.414+14475A>G
c.2056+2T>C (n.2056+2T>C)
c.1690+2T>C (n.1690+2T>C)
c.1789+2T>C (n.1789+2T>C)
1g.113829947A>TCA341701591AP4B1-AS1,PTPN22c.2134+2T>A (n.2134+2T>A)
c.469-10293T>A (n.469-10293T>A)
c.1753+2T>A (n.1753+2T>A)
c.1969+2T>A (n.1969+2T>A)
c.*1412+2T>A (n.*1412+2T>A)
c.2062+2T>A (n.2062+2T>A)
c.2050+2T>A (n.2050+2T>A)
n.414+14475A>T
c.2056+2T>A (n.2056+2T>A)
c.1690+2T>A (n.1690+2T>A)
c.1789+2T>A (n.1789+2T>A)
1g.113829947dupCA2647206863AP4B1-AS1,PTPN22c.2134+2dup (n.2134+2dup)
c.469-10293dup (n.469-10293dup)
c.1753+2dup (n.1753+2dup)
c.1969+2dup (n.1969+2dup)
c.*1412+2dup (n.*1412+2dup)
c.2062+2dup (n.2062+2dup)
c.2050+2dup (n.2050+2dup)
n.414+14475dup
c.2056+2dup (n.2056+2dup)
c.1690+2dup (n.1690+2dup)
c.1789+2dup (n.1789+2dup)
 gnomAD v4
1g.113829948C>ACA1014818AP4B1-AS1,PTPN22c.2134+1G>T (n.2134+1G>T)
c.469-10294G>T (n.469-10294G>T)
c.1753+1G>T (n.1753+1G>T)
c.1969+1G>T (n.1969+1G>T)
c.*1412+1G>T (n.*1412+1G>T)
c.2062+1G>T (n.2062+1G>T)
c.2050+1G>T (n.2050+1G>T)
n.414+14476C>A
c.2056+1G>T (n.2056+1G>T)
c.1690+1G>T (n.1690+1G>T)
c.1789+1G>T (n.1789+1G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.113829948C=CA1145944724AP4B1-AS1,PTPN22c.2134+1G= (n.2134+1G=)
c.469-10294G= (n.469-10294G=)
c.1753+1G= (n.1753+1G=)
c.1969+1G= (n.1969+1G=)
c.*1412+1G= (n.*1412+1G=)
c.2062+1G= (n.2062+1G=)
c.2050+1G= (n.2050+1G=)
n.414+14476C=
c.2056+1G= (n.2056+1G=)
c.1690+1G= (n.1690+1G=)
c.1789+1G= (n.1789+1G=)
1g.113829948C>GCA341701600AP4B1-AS1,PTPN22c.2134+1G>C (n.2134+1G>C)
c.469-10294G>C (n.469-10294G>C)
c.1753+1G>C (n.1753+1G>C)
c.1969+1G>C (n.1969+1G>C)
c.*1412+1G>C (n.*1412+1G>C)
c.2062+1G>C (n.2062+1G>C)
c.2050+1G>C (n.2050+1G>C)
n.414+14476C>G
c.2056+1G>C (n.2056+1G>C)
c.1690+1G>C (n.1690+1G>C)
c.1789+1G>C (n.1789+1G>C)
1g.113829948C>TCA341701602AP4B1-AS1,PTPN22c.2134+1G>A (n.2134+1G>A)
c.469-10294G>A (n.469-10294G>A)
c.1753+1G>A (n.1753+1G>A)
c.1969+1G>A (n.1969+1G>A)
c.*1412+1G>A (n.*1412+1G>A)
c.2062+1G>A (n.2062+1G>A)
c.2050+1G>A (n.2050+1G>A)
n.414+14476C>T
c.2056+1G>A (n.2056+1G>A)
c.1690+1G>A (n.1690+1G>A)
c.1789+1G>A (n.1789+1G>A)
1g.113829949A=CA1189920238AP4B1-AS1,PTPN22c.2134T= (p.Cys712=)
c.469-10295T= (n.469-10295T=)
c.1753T= (p.Cys585=)
c.1969T= (p.Cys657=)
c.*1412T= (n.*1412T=)
c.2062T= (p.Cys688=)
c.2050T= (p.Cys684=)
n.414+14477A=
c.2056T= (p.Cys686=)
c.1690T= (p.Cys564=)
c.1789T= (p.Cys597=)
1g.113829949A>CCA341701608AP4B1-AS1,PTPN22c.2134T>G (p.Cys712Gly)
c.469-10295T>G (n.469-10295T>G)
c.1753T>G (p.Cys585Gly)
c.1969T>G (p.Cys657Gly)
c.*1412T>G (n.*1412T>G)
c.2062T>G (p.Cys688Gly)
c.2050T>G (p.Cys684Gly)
n.414+14477A>C
c.2056T>G (p.Cys686Gly)
c.1690T>G (p.Cys564Gly)
c.1789T>G (p.Cys597Gly)
1g.113829949A>GCA1014819AP4B1-AS1,PTPN22c.2134T>C (p.Cys712Arg)
c.469-10295T>C (n.469-10295T>C)
c.1753T>C (p.Cys585Arg)
c.1969T>C (p.Cys657Arg)
c.*1412T>C (n.*1412T>C)
c.2062T>C (p.Cys688Arg)
c.2050T>C (p.Cys684Arg)
n.414+14477A>G
c.2056T>C (p.Cys686Arg)
c.1690T>C (p.Cys564Arg)
c.1789T>C (p.Cys597Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.113829949A>TCA341701603AP4B1-AS1,PTPN22c.2134T>A (p.Cys712Ser)
c.469-10295T>A (n.469-10295T>A)
c.1753T>A (p.Cys585Ser)
c.1969T>A (p.Cys657Ser)
c.*1412T>A (n.*1412T>A)
c.2062T>A (p.Cys688Ser)
c.2050T>A (p.Cys684Ser)
n.414+14477A>T
c.2056T>A (p.Cys686Ser)
c.1690T>A (p.Cys564Ser)
c.1789T>A (p.Cys597Ser)
1g.113829950delCA2574032907AP4B1-AS1,PTPN22c.2134del (p.Cys712ValfsTer7)
c.469-10295del (n.469-10295del)
c.1753del (p.Cys585ValfsTer7)
c.1969del (p.Cys657ValfsTer7)
c.*1412del (n.*1412del)
c.2062del (p.Cys688ValfsTer7)
c.2050del (p.Cys684ValfsTer7)
n.414+14478del
c.2056del (p.Cys686ValfsTer7)
c.1690del (p.Cys564ValfsTer7)
c.1789del (p.Cys597ValfsTer7)
1g.113829950A=CA1189920239AP4B1-AS1,PTPN22c.2133T= (p.Asp711=)
c.469-10296T= (n.469-10296T=)
c.1752T= (p.Asp584=)
c.1968T= (p.Asp656=)
c.*1411T= (n.*1411T=)
c.2061T= (p.Asp687=)
c.2049T= (p.Asp683=)
n.414+14478A=
c.2055T= (p.Asp685=)
c.1689T= (p.Asp563=)
c.1788T= (p.Asp596=)
1g.113829950A>CCA341701610AP4B1-AS1,PTPN22c.2133T>G (p.Asp711Glu)
c.469-10296T>G (n.469-10296T>G)
c.1752T>G (p.Asp584Glu)
c.1968T>G (p.Asp656Glu)
c.*1411T>G (n.*1411T>G)
c.2061T>G (p.Asp687Glu)
c.2049T>G (p.Asp683Glu)
n.414+14478A>C
c.2055T>G (p.Asp685Glu)
c.1689T>G (p.Asp563Glu)
c.1788T>G (p.Asp596Glu)
 dbSNP gnomAD v4
1g.113829950A>GCA1014820AP4B1-AS1,PTPN22c.2133T>C (p.Asp711=)
c.469-10296T>C (n.469-10296T>C)
c.1752T>C (p.Asp584=)
c.1968T>C (p.Asp656=)
c.*1411T>C (n.*1411T>C)
c.2061T>C (p.Asp687=)
c.2049T>C (p.Asp683=)
n.414+14478A>G
c.2055T>C (p.Asp685=)
c.1689T>C (p.Asp563=)
c.1788T>C (p.Asp596=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.113829950A>TCA341701614AP4B1-AS1,PTPN22c.2133T>A (p.Asp711Glu)
c.469-10296T>A (n.469-10296T>A)
c.1752T>A (p.Asp584Glu)
c.1968T>A (p.Asp656Glu)
c.*1411T>A (n.*1411T>A)
c.2061T>A (p.Asp687Glu)
c.2049T>A (p.Asp683Glu)
n.414+14478A>T
c.2055T>A (p.Asp685Glu)
c.1689T>A (p.Asp563Glu)
c.1788T>A (p.Asp596Glu)
1g.113829951T>ACA341701615AP4B1-AS1,PTPN22c.2132A>T (p.Asp711Val)
c.469-10297A>T (n.469-10297A>T)
c.1751A>T (p.Asp584Val)
c.1967A>T (p.Asp656Val)
c.*1410A>T (n.*1410A>T)
c.2060A>T (p.Asp687Val)
c.2048A>T (p.Asp683Val)
n.414+14479T>A
c.2054A>T (p.Asp685Val)
c.1688A>T (p.Asp563Val)
c.1787A>T (p.Asp596Val)
1g.113829951T>CCA1014821AP4B1-AS1,PTPN22c.2132A>G (p.Asp711Gly)
c.469-10297A>G (n.469-10297A>G)
c.1751A>G (p.Asp584Gly)
c.1967A>G (p.Asp656Gly)
c.*1410A>G (n.*1410A>G)
c.2060A>G (p.Asp687Gly)
c.2048A>G (p.Asp683Gly)
n.414+14479T>C
c.2054A>G (p.Asp685Gly)
c.1688A>G (p.Asp563Gly)
c.1787A>G (p.Asp596Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.113829951T>GCA341701618AP4B1-AS1,PTPN22c.2132A>C (p.Asp711Ala)
c.469-10297A>C (n.469-10297A>C)
c.1751A>C (p.Asp584Ala)
c.1967A>C (p.Asp656Ala)
c.*1410A>C (n.*1410A>C)
c.2060A>C (p.Asp687Ala)
c.2048A>C (p.Asp683Ala)
n.414+14479T>G
c.2054A>C (p.Asp685Ala)
c.1688A>C (p.Asp563Ala)
c.1787A>C (p.Asp596Ala)
1g.113829951T=CA1148460947AP4B1-AS1,PTPN22c.2132A= (p.Asp711=)
c.469-10297A= (n.469-10297A=)
c.1751A= (p.Asp584=)
c.1967A= (p.Asp656=)
c.*1410A= (n.*1410A=)
c.2060A= (p.Asp687=)
c.2048A= (p.Asp683=)
n.414+14479T=
c.2054A= (p.Asp685=)
c.1688A= (p.Asp563=)
c.1787A= (p.Asp596=)
1g.113829952C>ACA341701622AP4B1-AS1,PTPN22c.2131G>T (p.Asp711Tyr)
c.469-10298G>T (n.469-10298G>T)
c.1750G>T (p.Asp584Tyr)
c.1966G>T (p.Asp656Tyr)
c.*1409G>T (n.*1409G>T)
c.2059G>T (p.Asp687Tyr)
c.2047G>T (p.Asp683Tyr)
n.414+14480C>A
c.2053G>T (p.Asp685Tyr)
c.1687G>T (p.Asp563Tyr)
c.1786G>T (p.Asp596Tyr)
1g.113829952C>GCA341701627AP4B1-AS1,PTPN22c.2131G>C (p.Asp711His)
c.469-10298G>C (n.469-10298G>C)
c.1750G>C (p.Asp584His)
c.1966G>C (p.Asp656His)
c.*1409G>C (n.*1409G>C)
c.2059G>C (p.Asp687His)
c.2047G>C (p.Asp683His)
n.414+14480C>G
c.2053G>C (p.Asp685His)
c.1687G>C (p.Asp563His)
c.1786G>C (p.Asp596His)
1g.113829952C>TCA341701625AP4B1-AS1,PTPN22c.2131G>A (p.Asp711Asn)
c.469-10298G>A (n.469-10298G>A)
c.1750G>A (p.Asp584Asn)
c.1966G>A (p.Asp656Asn)
c.*1409G>A (n.*1409G>A)
c.2059G>A (p.Asp687Asn)
c.2047G>A (p.Asp683Asn)
n.414+14480C>T
c.2053G>A (p.Asp685Asn)
c.1687G>A (p.Asp563Asn)
c.1786G>A (p.Asp596Asn)
1g.113829953T>ACA341701630AP4B1-AS1,PTPN22c.2130A>T (p.Glu710Asp)
c.469-10299A>T (n.469-10299A>T)
c.1749A>T (p.Glu583Asp)
c.1965A>T (p.Glu655Asp)
c.*1408A>T (n.*1408A>T)
c.2058A>T (p.Glu686Asp)
c.2046A>T (p.Glu682Asp)
n.414+14481T>A
c.2052A>T (p.Glu684Asp)
c.1686A>T (p.Glu562Asp)
c.1785A>T (p.Glu595Asp)
1g.113829953T>CCA419560037AP4B1-AS1,PTPN22c.2130A>G (p.Glu710=)
c.469-10299A>G (n.469-10299A>G)
c.1749A>G (p.Glu583=)
c.1965A>G (p.Glu655=)
c.*1408A>G (n.*1408A>G)
c.2058A>G (p.Glu686=)
c.2046A>G (p.Glu682=)
n.414+14481T>C
c.2052A>G (p.Glu684=)
c.1686A>G (p.Glu562=)
c.1785A>G (p.Glu595=)
1g.113829953T>GCA341701633AP4B1-AS1,PTPN22c.2130A>C (p.Glu710Asp)
c.469-10299A>C (n.469-10299A>C)
c.1749A>C (p.Glu583Asp)
c.1965A>C (p.Glu655Asp)
c.*1408A>C (n.*1408A>C)
c.2058A>C (p.Glu686Asp)
c.2046A>C (p.Glu682Asp)
n.414+14481T>G
c.2052A>C (p.Glu684Asp)
c.1686A>C (p.Glu562Asp)
c.1785A>C (p.Glu595Asp)
1g.113829954delCA2574032909AP4B1-AS1,PTPN22c.2130del (p.Asp711IlefsTer8)
c.469-10299del (n.469-10299del)
c.1749del (p.Asp584IlefsTer8)
c.1965del (p.Asp656IlefsTer8)
c.*1408del (n.*1408del)
c.2058del (p.Asp687IlefsTer8)
c.2046del (p.Asp683IlefsTer8)
n.414+14482del
c.2052del (p.Asp685IlefsTer8)
c.1686del (p.Asp563IlefsTer8)
c.1785del (p.Asp596IlefsTer8)
 gnomAD v4
1g.113829954T>ACA341701634AP4B1-AS1,PTPN22c.2129A>T (p.Glu710Val)
c.469-10300A>T (n.469-10300A>T)
c.1748A>T (p.Glu583Val)
c.1964A>T (p.Glu655Val)
c.*1407A>T (n.*1407A>T)
c.2057A>T (p.Glu686Val)
c.2045A>T (p.Glu682Val)
n.414+14482T>A
c.2051A>T (p.Glu684Val)
c.1685A>T (p.Glu562Val)
c.1784A>T (p.Glu595Val)
1g.113829954T>CCA341701637AP4B1-AS1,PTPN22c.2129A>G (p.Glu710Gly)
c.469-10300A>G (n.469-10300A>G)
c.1748A>G (p.Glu583Gly)
c.1964A>G (p.Glu655Gly)
c.*1407A>G (n.*1407A>G)
c.2057A>G (p.Glu686Gly)
c.2045A>G (p.Glu682Gly)
n.414+14482T>C
c.2051A>G (p.Glu684Gly)
c.1685A>G (p.Glu562Gly)
c.1784A>G (p.Glu595Gly)
1g.113829954T>GCA341701638AP4B1-AS1,PTPN22c.2129A>C (p.Glu710Ala)
c.469-10300A>C (n.469-10300A>C)
c.1748A>C (p.Glu583Ala)
c.1964A>C (p.Glu655Ala)
c.*1407A>C (n.*1407A>C)
c.2057A>C (p.Glu686Ala)
c.2045A>C (p.Glu682Ala)
n.414+14482T>G
c.2051A>C (p.Glu684Ala)
c.1685A>C (p.Glu562Ala)
c.1784A>C (p.Glu595Ala)
 dbSNP
1g.113829954T=CA1189920240AP4B1-AS1,PTPN22c.2129A= (p.Glu710=)
c.469-10300A= (n.469-10300A=)
c.1748A= (p.Glu583=)
c.1964A= (p.Glu655=)
c.*1407A= (n.*1407A=)
c.2057A= (p.Glu686=)
c.2045A= (p.Glu682=)
n.414+14482T=
c.2051A= (p.Glu684=)
c.1685A= (p.Glu562=)
c.1784A= (p.Glu595=)
1g.113829955C>ACA341701639AP4B1-AS1,PTPN22c.2128G>T (p.Glu710Ter)
c.469-10301G>T (n.469-10301G>T)
c.1747G>T (p.Glu583Ter)
c.1963G>T (p.Glu655Ter)
c.*1406G>T (n.*1406G>T)
c.2056G>T (p.Glu686Ter)
c.2044G>T (p.Glu682Ter)
n.414+14483C>A
c.2050G>T (p.Glu684Ter)
c.1684G>T (p.Glu562Ter)
c.1783G>T (p.Glu595Ter)
1g.113829955C=CA1189920241AP4B1-AS1,PTPN22c.2128G= (p.Glu710=)
c.469-10301G= (n.469-10301G=)
c.1747G= (p.Glu583=)
c.1963G= (p.Glu655=)
c.*1406G= (n.*1406G=)
c.2056G= (p.Glu686=)
c.2044G= (p.Glu682=)
n.414+14483C=
c.2050G= (p.Glu684=)
c.1684G= (p.Glu562=)
c.1783G= (p.Glu595=)
1g.113829955C>GCA341701640AP4B1-AS1,PTPN22c.2128G>C (p.Glu710Gln)
c.469-10301G>C (n.469-10301G>C)
c.1747G>C (p.Glu583Gln)
c.1963G>C (p.Glu655Gln)
c.*1406G>C (n.*1406G>C)
c.2056G>C (p.Glu686Gln)
c.2044G>C (p.Glu682Gln)
n.414+14483C>G
c.2050G>C (p.Glu684Gln)
c.1684G>C (p.Glu562Gln)
c.1783G>C (p.Glu595Gln)
 dbSNP gnomAD v2 gnomAD v4
1g.113829955C>TCA341701641AP4B1-AS1,PTPN22c.2128G>A (p.Glu710Lys)
c.469-10301G>A (n.469-10301G>A)
c.1747G>A (p.Glu583Lys)
c.1963G>A (p.Glu655Lys)
c.*1406G>A (n.*1406G>A)
c.2056G>A (p.Glu686Lys)
c.2044G>A (p.Glu682Lys)
n.414+14483C>T
c.2050G>A (p.Glu684Lys)
c.1684G>A (p.Glu562Lys)
c.1783G>A (p.Glu595Lys)
 COSMIC
1g.113829956A=CA1141946286AP4B1-AS1,PTPN22c.2127T= (p.Asp709=)
c.469-10302T= (n.469-10302T=)
c.1746T= (p.Asp582=)
c.1962T= (p.Asp654=)
c.*1405T= (n.*1405T=)
c.2055T= (p.Asp685=)
c.2043T= (p.Asp681=)
n.414+14484A=
c.2049T= (p.Asp683=)
c.1683T= (p.Asp561=)
c.1782T= (p.Asp594=)
1g.113829956A>CCA341701642AP4B1-AS1,PTPN22c.2127T>G (p.Asp709Glu)
c.469-10302T>G (n.469-10302T>G)
c.1746T>G (p.Asp582Glu)
c.1962T>G (p.Asp654Glu)
c.*1405T>G (n.*1405T>G)
c.2055T>G (p.Asp685Glu)
c.2043T>G (p.Asp681Glu)
n.414+14484A>C
c.2049T>G (p.Asp683Glu)
c.1683T>G (p.Asp561Glu)
c.1782T>G (p.Asp594Glu)
1g.113829956A>GCA419560038AP4B1-AS1,PTPN22c.2127T>C (p.Asp709=)
c.469-10302T>C (n.469-10302T>C)
c.1746T>C (p.Asp582=)
c.1962T>C (p.Asp654=)
c.*1405T>C (n.*1405T>C)
c.2055T>C (p.Asp685=)
c.2043T>C (p.Asp681=)
n.414+14484A>G
c.2049T>C (p.Asp683=)
c.1683T>C (p.Asp561=)
c.1782T>C (p.Asp594=)
 gnomAD v4
1g.113829956A>TCA1014822AP4B1-AS1,PTPN22c.2127T>A (p.Asp709Glu)
c.469-10302T>A (n.469-10302T>A)
c.1746T>A (p.Asp582Glu)
c.1962T>A (p.Asp654Glu)
c.*1405T>A (n.*1405T>A)
c.2055T>A (p.Asp685Glu)
c.2043T>A (p.Asp681Glu)
n.414+14484A>T
c.2049T>A (p.Asp683Glu)
c.1683T>A (p.Asp561Glu)
c.1782T>A (p.Asp594Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.113829957T>ACA341701647AP4B1-AS1,PTPN22c.2126A>T (p.Asp709Val)
c.469-10303A>T (n.469-10303A>T)
c.1745A>T (p.Asp582Val)
c.1961A>T (p.Asp654Val)
c.*1404A>T (n.*1404A>T)
c.2054A>T (p.Asp685Val)
c.2042A>T (p.Asp681Val)
n.414+14485T>A
c.2048A>T (p.Asp683Val)
c.1682A>T (p.Asp561Val)
c.1781A>T (p.Asp594Val)
1g.113829957T>CCA341701645AP4B1-AS1,PTPN22c.2126A>G (p.Asp709Gly)
c.469-10303A>G (n.469-10303A>G)
c.1745A>G (p.Asp582Gly)
c.1961A>G (p.Asp654Gly)
c.*1404A>G (n.*1404A>G)
c.2054A>G (p.Asp685Gly)
c.2042A>G (p.Asp681Gly)
n.414+14485T>C
c.2048A>G (p.Asp683Gly)
c.1682A>G (p.Asp561Gly)
c.1781A>G (p.Asp594Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.113829957T>GCA341701644AP4B1-AS1,PTPN22c.2126A>C (p.Asp709Ala)
c.469-10303A>C (n.469-10303A>C)
c.1745A>C (p.Asp582Ala)
c.1961A>C (p.Asp654Ala)
c.*1404A>C (n.*1404A>C)
c.2054A>C (p.Asp685Ala)
c.2042A>C (p.Asp681Ala)
n.414+14485T>G
c.2048A>C (p.Asp683Ala)
c.1682A>C (p.Asp561Ala)
c.1781A>C (p.Asp594Ala)
1g.113829957T=CA1189920242AP4B1-AS1,PTPN22c.2126A= (p.Asp709=)
c.469-10303A= (n.469-10303A=)
c.1745A= (p.Asp582=)
c.1961A= (p.Asp654=)
c.*1404A= (n.*1404A=)
c.2054A= (p.Asp685=)
c.2042A= (p.Asp681=)
n.414+14485T=
c.2048A= (p.Asp683=)
c.1682A= (p.Asp561=)
c.1781A= (p.Asp594=)
1g.113829958C>ACA341701648AP4B1-AS1,PTPN22c.2125G>T (p.Asp709Tyr)
c.469-10304G>T (n.469-10304G>T)
c.1744G>T (p.Asp582Tyr)
c.1960G>T (p.Asp654Tyr)
c.*1403G>T (n.*1403G>T)
c.2053G>T (p.Asp685Tyr)
c.2041G>T (p.Asp681Tyr)
n.414+14486C>A
c.2047G>T (p.Asp683Tyr)
c.1681G>T (p.Asp561Tyr)
c.1780G>T (p.Asp594Tyr)
1g.113829958C=CA1189920243AP4B1-AS1,PTPN22c.2125G= (p.Asp709=)
c.469-10304G= (n.469-10304G=)
c.1744G= (p.Asp582=)
c.1960G= (p.Asp654=)
c.*1403G= (n.*1403G=)
c.2053G= (p.Asp685=)
c.2041G= (p.Asp681=)
n.414+14486C=
c.2047G= (p.Asp683=)
c.1681G= (p.Asp561=)
c.1780G= (p.Asp594=)
1g.113829958C>GCA341701650AP4B1-AS1,PTPN22c.2125G>C (p.Asp709His)
c.469-10304G>C (n.469-10304G>C)
c.1744G>C (p.Asp582His)
c.1960G>C (p.Asp654His)
c.*1403G>C (n.*1403G>C)
c.2053G>C (p.Asp685His)
c.2041G>C (p.Asp681His)
n.414+14486C>G
c.2047G>C (p.Asp683His)
c.1681G>C (p.Asp561His)
c.1780G>C (p.Asp594His)
1g.113829958C>TCA1014823AP4B1-AS1,PTPN22c.2125G>A (p.Asp709Asn)
c.469-10304G>A (n.469-10304G>A)
c.1744G>A (p.Asp582Asn)
c.1960G>A (p.Asp654Asn)
c.*1403G>A (n.*1403G>A)
c.2053G>A (p.Asp685Asn)
c.2041G>A (p.Asp681Asn)
n.414+14486C>T
c.2047G>A (p.Asp683Asn)
c.1681G>A (p.Asp561Asn)
c.1780G>A (p.Asp594Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.113829958_113829959delCA2647206864AP4B1-AS1,PTPN22c.2124_2125del (p.Asp709Ter)
c.469-10305_469-10304del (n.469-10305_469-10304del)
c.1743_1744del (p.Asp582Ter)
c.1959_1960del (p.Asp654Ter)
c.*1402_*1403del (n.*1402_*1403del)
c.2052_2053del (p.Asp685Ter)
c.2040_2041del (p.Asp681Ter)
n.414+14486_414+14487del
c.2046_2047del (p.Asp683Ter)
c.1680_1681del (p.Asp561Ter)
c.1779_1780del (p.Asp594Ter)
 gnomAD v4
1g.113829959G>ACA1014824AP4B1-AS1,PTPN22c.2124C>T (p.Ala708=)
c.469-10305C>T (n.469-10305C>T)
c.1743C>T (p.Ala581=)
c.1959C>T (p.Ala653=)
c.*1402C>T (n.*1402C>T)
c.2052C>T (p.Ala684=)
c.2040C>T (p.Ala680=)
n.414+14487G>A
c.2046C>T (p.Ala682=)
c.1680C>T (p.Ala560=)
c.1779C>T (p.Ala593=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.113829959G>CCA419560040AP4B1-AS1,PTPN22c.2124C>G (p.Ala708=)
c.469-10305C>G (n.469-10305C>G)
c.1743C>G (p.Ala581=)
c.1959C>G (p.Ala653=)
c.*1402C>G (n.*1402C>G)
c.2052C>G (p.Ala684=)
c.2040C>G (p.Ala680=)
n.414+14487G>C
c.2046C>G (p.Ala682=)
c.1680C>G (p.Ala560=)
c.1779C>G (p.Ala593=)
1g.113829959G=CA1189920244AP4B1-AS1,PTPN22c.2124C= (p.Ala708=)
c.469-10305C= (n.469-10305C=)
c.1743C= (p.Ala581=)
c.1959C= (p.Ala653=)
c.*1402C= (n.*1402C=)
c.2052C= (p.Ala684=)
c.2040C= (p.Ala680=)
n.414+14487G=
c.2046C= (p.Ala682=)
c.1680C= (p.Ala560=)
c.1779C= (p.Ala593=)
1g.113829959G>TCA1014825AP4B1-AS1,PTPN22c.2124C>A (p.Ala708=)
c.469-10305C>A (n.469-10305C>A)
c.1743C>A (p.Ala581=)
c.1959C>A (p.Ala653=)
c.*1402C>A (n.*1402C>A)
c.2052C>A (p.Ala684=)
c.2040C>A (p.Ala680=)
n.414+14487G>T
c.2046C>A (p.Ala682=)
c.1680C>A (p.Ala560=)
c.1779C>A (p.Ala593=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.113829960G>ACA341701656AP4B1-AS1,PTPN22c.2123C>T (p.Ala708Val)
c.469-10306C>T (n.469-10306C>T)
c.1742C>T (p.Ala581Val)
c.1958C>T (p.Ala653Val)
c.*1401C>T (n.*1401C>T)
c.2051C>T (p.Ala684Val)
c.2039C>T (p.Ala680Val)
n.414+14488G>A
c.2045C>T (p.Ala682Val)
c.1679C>T (p.Ala560Val)
c.1778C>T (p.Ala593Val)
 dbSNP gnomAD v4
1g.113829960G>CCA341701659AP4B1-AS1,PTPN22c.2123C>G (p.Ala708Gly)
c.469-10306C>G (n.469-10306C>G)
c.1742C>G (p.Ala581Gly)
c.1958C>G (p.Ala653Gly)
c.*1401C>G (n.*1401C>G)
c.2051C>G (p.Ala684Gly)
c.2039C>G (p.Ala680Gly)
n.414+14488G>C
c.2045C>G (p.Ala682Gly)
c.1679C>G (p.Ala560Gly)
c.1778C>G (p.Ala593Gly)
1g.113829960G=CA1189920245AP4B1-AS1,PTPN22c.2123C= (p.Ala708=)
c.469-10306C= (n.469-10306C=)
c.1742C= (p.Ala581=)
c.1958C= (p.Ala653=)
c.*1401C= (n.*1401C=)
c.2051C= (p.Ala684=)
c.2039C= (p.Ala680=)
n.414+14488G=
c.2045C= (p.Ala682=)
c.1679C= (p.Ala560=)
c.1778C= (p.Ala593=)
1g.113829960G>TCA341701662AP4B1-AS1,PTPN22c.2123C>A (p.Ala708Asp)
c.469-10306C>A (n.469-10306C>A)
c.1742C>A (p.Ala581Asp)
c.1958C>A (p.Ala653Asp)
c.*1401C>A (n.*1401C>A)
c.2051C>A (p.Ala684Asp)
c.2039C>A (p.Ala680Asp)
n.414+14488G>T
c.2045C>A (p.Ala682Asp)
c.1679C>A (p.Ala560Asp)
c.1778C>A (p.Ala593Asp)
 dbSNP
1g.113829961delCA2574032924AP4B1-AS1,PTPN22c.2122del (p.Ala708ProfsTer11)
c.469-10307del (n.469-10307del)
c.1741del (p.Ala581ProfsTer11)
c.1957del (p.Ala653ProfsTer11)
c.*1400del (n.*1400del)
c.2050del (p.Ala684ProfsTer11)
c.2038del (p.Ala680ProfsTer11)
n.414+14489del
c.2044del (p.Ala682ProfsTer11)
c.1678del (p.Ala560ProfsTer11)
c.1777del (p.Ala593ProfsTer11)
1g.113829961C>ACA341701664AP4B1-AS1,PTPN22c.2122G>T (p.Ala708Ser)
c.469-10307G>T (n.469-10307G>T)
c.1741G>T (p.Ala581Ser)
c.1957G>T (p.Ala653Ser)
c.*1400G>T (n.*1400G>T)
c.2050G>T (p.Ala684Ser)
c.2038G>T (p.Ala680Ser)
n.414+14489C>A
c.2044G>T (p.Ala682Ser)
c.1678G>T (p.Ala560Ser)
c.1777G>T (p.Ala593Ser)
1g.113829961C=CA1189920246AP4B1-AS1,PTPN22c.2122G= (p.Ala708=)
c.469-10307G= (n.469-10307G=)
c.1741G= (p.Ala581=)
c.1957G= (p.Ala653=)
c.*1400G= (n.*1400G=)
c.2050G= (p.Ala684=)
c.2038G= (p.Ala680=)
n.414+14489C=
c.2044G= (p.Ala682=)
c.1678G= (p.Ala560=)
c.1777G= (p.Ala593=)
1g.113829961C>GCA341701665AP4B1-AS1,PTPN22c.2122G>C (p.Ala708Pro)
c.469-10307G>C (n.469-10307G>C)
c.1741G>C (p.Ala581Pro)
c.1957G>C (p.Ala653Pro)
c.*1400G>C (n.*1400G>C)
c.2050G>C (p.Ala684Pro)
c.2038G>C (p.Ala680Pro)
n.414+14489C>G
c.2044G>C (p.Ala682Pro)
c.1678G>C (p.Ala560Pro)
c.1777G>C (p.Ala593Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.113829961C>TCA341701668AP4B1-AS1,PTPN22c.2122G>A (p.Ala708Thr)
c.469-10307G>A (n.469-10307G>A)
c.1741G>A (p.Ala581Thr)
c.1957G>A (p.Ala653Thr)
c.*1400G>A (n.*1400G>A)
c.2050G>A (p.Ala684Thr)
c.2038G>A (p.Ala680Thr)
n.414+14489C>T
c.2044G>A (p.Ala682Thr)
c.1678G>A (p.Ala560Thr)
c.1777G>A (p.Ala593Thr)
1g.113829962A>CCA419560041AP4B1-AS1,PTPN22c.2121T>G (p.Leu707=)
c.469-10308T>G (n.469-10308T>G)
c.1740T>G (p.Leu580=)
c.1956T>G (p.Leu652=)
c.*1399T>G (n.*1399T>G)
c.2049T>G (p.Leu683=)
c.2037T>G (p.Leu679=)
n.414+14490A>C
c.2043T>G (p.Leu681=)
c.1677T>G (p.Leu559=)
c.1776T>G (p.Leu592=)
1g.113829962A>GCA419560042AP4B1-AS1,PTPN22c.2121T>C (p.Leu707=)
c.469-10308T>C (n.469-10308T>C)
c.1740T>C (p.Leu580=)
c.1956T>C (p.Leu652=)
c.*1399T>C (n.*1399T>C)
c.2049T>C (p.Leu683=)
c.2037T>C (p.Leu679=)
n.414+14490A>G
c.2043T>C (p.Leu681=)
c.1677T>C (p.Leu559=)
c.1776T>C (p.Leu592=)
1g.113829962A>TCA419560043AP4B1-AS1,PTPN22c.2121T>A (p.Leu707=)
c.469-10308T>A (n.469-10308T>A)
c.1740T>A (p.Leu580=)
c.1956T>A (p.Leu652=)
c.*1399T>A (n.*1399T>A)
c.2049T>A (p.Leu683=)
c.2037T>A (p.Leu679=)
n.414+14490A>T
c.2043T>A (p.Leu681=)
c.1677T>A (p.Leu559=)
c.1776T>A (p.Leu592=)
1g.113829963A>CCA341701670AP4B1-AS1,PTPN22c.2120T>G (p.Leu707Arg)
c.469-10309T>G (n.469-10309T>G)
c.1739T>G (p.Leu580Arg)
c.1955T>G (p.Leu652Arg)
c.*1398T>G (n.*1398T>G)
c.2048T>G (p.Leu683Arg)
c.2036T>G (p.Leu679Arg)
n.414+14491A>C
c.2042T>G (p.Leu681Arg)
c.1676T>G (p.Leu559Arg)
c.1775T>G (p.Leu592Arg)
1g.113829963A>GCA341701672AP4B1-AS1,PTPN22c.2120T>C (p.Leu707Pro)
c.469-10309T>C (n.469-10309T>C)
c.1739T>C (p.Leu580Pro)
c.1955T>C (p.Leu652Pro)
c.*1398T>C (n.*1398T>C)
c.2048T>C (p.Leu683Pro)
c.2036T>C (p.Leu679Pro)
n.414+14491A>G
c.2042T>C (p.Leu681Pro)
c.1676T>C (p.Leu559Pro)
c.1775T>C (p.Leu592Pro)
1g.113829963A>TCA341701674AP4B1-AS1,PTPN22c.2120T>A (p.Leu707His)
c.469-10309T>A (n.469-10309T>A)
c.1739T>A (p.Leu580His)
c.1955T>A (p.Leu652His)
c.*1398T>A (n.*1398T>A)
c.2048T>A (p.Leu683His)
c.2036T>A (p.Leu679His)
n.414+14491A>T
c.2042T>A (p.Leu681His)
c.1676T>A (p.Leu559His)
c.1775T>A (p.Leu592His)
1g.113829964G>ACA341701681AP4B1-AS1,PTPN22c.2119C>T (p.Leu707Phe)
c.469-10310C>T (n.469-10310C>T)
c.1738C>T (p.Leu580Phe)
c.1954C>T (p.Leu652Phe)
c.*1397C>T (n.*1397C>T)
c.2047C>T (p.Leu683Phe)
c.2035C>T (p.Leu679Phe)
n.414+14492G>A
c.2041C>T (p.Leu681Phe)
c.1675C>T (p.Leu559Phe)
c.1774C>T (p.Leu592Phe)
1g.113829964G>CCA341701676AP4B1-AS1,PTPN22c.2119C>G (p.Leu707Val)
c.469-10310C>G (n.469-10310C>G)
c.1738C>G (p.Leu580Val)
c.1954C>G (p.Leu652Val)
c.*1397C>G (n.*1397C>G)
c.2047C>G (p.Leu683Val)
c.2035C>G (p.Leu679Val)
n.414+14492G>C
c.2041C>G (p.Leu681Val)
c.1675C>G (p.Leu559Val)
c.1774C>G (p.Leu592Val)
1g.113829964G>TCA341701678AP4B1-AS1,PTPN22c.2119C>A (p.Leu707Ile)
c.469-10310C>A (n.469-10310C>A)
c.1738C>A (p.Leu580Ile)
c.1954C>A (p.Leu652Ile)
c.*1397C>A (n.*1397C>A)
c.2047C>A (p.Leu683Ile)
c.2035C>A (p.Leu679Ile)
n.414+14492G>T
c.2041C>A (p.Leu681Ile)
c.1675C>A (p.Leu559Ile)
c.1774C>A (p.Leu592Ile)
1g.113829965A>CCA341701684AP4B1-AS1,PTPN22c.2118T>G (p.Phe706Leu)
c.469-10311T>G (n.469-10311T>G)
c.1737T>G (p.Phe579Leu)
c.1953T>G (p.Phe651Leu)
c.*1396T>G (n.*1396T>G)
c.2046T>G (p.Phe682Leu)
c.2034T>G (p.Phe678Leu)
n.414+14493A>C
c.2040T>G (p.Phe680Leu)
c.1674T>G (p.Phe558Leu)
c.1773T>G (p.Phe591Leu)
1g.113829965A>GCA419560044AP4B1-AS1,PTPN22c.2118T>C (p.Phe706=)
c.469-10311T>C (n.469-10311T>C)
c.1737T>C (p.Phe579=)
c.1953T>C (p.Phe651=)
c.*1396T>C (n.*1396T>C)
c.2046T>C (p.Phe682=)
c.2034T>C (p.Phe678=)
n.414+14493A>G
c.2040T>C (p.Phe680=)
c.1674T>C (p.Phe558=)
c.1773T>C (p.Phe591=)
1g.113829965A>TCA341701685AP4B1-AS1,PTPN22c.2118T>A (p.Phe706Leu)
c.469-10311T>A (n.469-10311T>A)
c.1737T>A (p.Phe579Leu)
c.1953T>A (p.Phe651Leu)
c.*1396T>A (n.*1396T>A)
c.2046T>A (p.Phe682Leu)
c.2034T>A (p.Phe678Leu)
n.414+14493A>T
c.2040T>A (p.Phe680Leu)
c.1674T>A (p.Phe558Leu)
c.1773T>A (p.Phe591Leu)
1g.113829965_113829968delinsAAAGCA1189920247AP4B1-AS1,PTPN22c.2115_2118delinsCTTT (p.Phe705=)
c.469-10314_469-10311delinsCTTT (n.469-10314_469-10311delinsCTTT)
c.1734_1737delinsCTTT (p.Phe578=)
c.1950_1953delinsCTTT (p.Phe650=)
c.*1393_*1396delinsCTTT (n.*1393_*1396delinsCTTT)
c.2043_2046delinsCTTT (p.Phe681=)
c.2031_2034delinsCTTT (p.Phe677=)
n.414+14493_414+14496delinsAAAG
c.2037_2040delinsCTTT (p.Phe679=)
c.1671_1674delinsCTTT (p.Phe557=)
c.1770_1773delinsCTTT (p.Phe590=)
1g.113829966A>CCA341701686AP4B1-AS1,PTPN22c.2117T>G (p.Phe706Cys)
c.469-10312T>G (n.469-10312T>G)
c.1736T>G (p.Phe579Cys)
c.1952T>G (p.Phe651Cys)
c.*1395T>G (n.*1395T>G)
c.2045T>G (p.Phe682Cys)
c.2033T>G (p.Phe678Cys)
n.414+14494A>C
c.2039T>G (p.Phe680Cys)
c.1673T>G (p.Phe558Cys)
c.1772T>G (p.Phe591Cys)
1g.113829966A>GCA341701689AP4B1-AS1,PTPN22c.2117T>C (p.Phe706Ser)
c.469-10312T>C (n.469-10312T>C)
c.1736T>C (p.Phe579Ser)
c.1952T>C (p.Phe651Ser)
c.*1395T>C (n.*1395T>C)
c.2045T>C (p.Phe682Ser)
c.2033T>C (p.Phe678Ser)
n.414+14494A>G
c.2039T>C (p.Phe680Ser)
c.1673T>C (p.Phe558Ser)
c.1772T>C (p.Phe591Ser)
1g.113829966A>TCA341701691AP4B1-AS1,PTPN22c.2117T>A (p.Phe706Tyr)
c.469-10312T>A (n.469-10312T>A)
c.1736T>A (p.Phe579Tyr)
c.1952T>A (p.Phe651Tyr)
c.*1395T>A (n.*1395T>A)
c.2045T>A (p.Phe682Tyr)
c.2033T>A (p.Phe678Tyr)
n.414+14494A>T
c.2039T>A (p.Phe680Tyr)
c.1673T>A (p.Phe558Tyr)
c.1772T>A (p.Phe591Tyr)
1g.113829969_113829971delCA1014826AP4B1-AS1,PTPN22c.2115_2117del (p.Phe706del)
c.469-10314_469-10312del (n.469-10314_469-10312del)
c.1734_1736del (p.Phe579del)
c.1950_1952del (p.Phe651del)
c.*1393_*1395del (n.*1393_*1395del)
c.2043_2045del (p.Phe682del)
c.2031_2033del (p.Phe678del)
n.414+14497_414+14499del
c.2037_2039del (p.Phe680del)
c.1671_1673del (p.Phe558del)
c.1770_1772del (p.Phe591del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.113829967A=CA1189920248AP4B1-AS1,PTPN22c.2116T= (p.Phe706=)
c.469-10313T= (n.469-10313T=)
c.1735T= (p.Phe579=)
c.1951T= (p.Phe651=)
c.*1394T= (n.*1394T=)
c.2044T= (p.Phe682=)
c.2032T= (p.Phe678=)
n.414+14495A=
c.2038T= (p.Phe680=)
c.1672T= (p.Phe558=)
c.1771T= (p.Phe591=)
1g.113829967A>CCA341701695AP4B1-AS1,PTPN22c.2116T>G (p.Phe706Val)
c.469-10313T>G (n.469-10313T>G)
c.1735T>G (p.Phe579Val)
c.1951T>G (p.Phe651Val)
c.*1394T>G (n.*1394T>G)
c.2044T>G (p.Phe682Val)
c.2032T>G (p.Phe678Val)
n.414+14495A>C
c.2038T>G (p.Phe680Val)
c.1672T>G (p.Phe558Val)
c.1771T>G (p.Phe591Val)
1g.113829967A>GCA341701697AP4B1-AS1,PTPN22c.2116T>C (p.Phe706Leu)
c.469-10313T>C (n.469-10313T>C)
c.1735T>C (p.Phe579Leu)
c.1951T>C (p.Phe651Leu)
c.*1394T>C (n.*1394T>C)
c.2044T>C (p.Phe682Leu)
c.2032T>C (p.Phe678Leu)
n.414+14495A>G
c.2038T>C (p.Phe680Leu)
c.1672T>C (p.Phe558Leu)
c.1771T>C (p.Phe591Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.113829967A>TCA341701698AP4B1-AS1,PTPN22c.2116T>A (p.Phe706Ile)
c.469-10313T>A (n.469-10313T>A)
c.1735T>A (p.Phe579Ile)
c.1951T>A (p.Phe651Ile)
c.*1394T>A (n.*1394T>A)
c.2044T>A (p.Phe682Ile)
c.2032T>A (p.Phe678Ile)
n.414+14495A>T
c.2038T>A (p.Phe680Ile)
c.1672T>A (p.Phe558Ile)
c.1771T>A (p.Phe591Ile)
1g.113829968G>ACA419560045AP4B1-AS1,PTPN22c.2115C>T (p.Phe705=)
c.469-10314C>T (n.469-10314C>T)
c.1734C>T (p.Phe578=)
c.1950C>T (p.Phe650=)
c.*1393C>T (n.*1393C>T)
c.2043C>T (p.Phe681=)
c.2031C>T (p.Phe677=)
n.414+14496G>A
c.2037C>T (p.Phe679=)
c.1671C>T (p.Phe557=)
c.1770C>T (p.Phe590=)
1g.113829968G>CCA341701701AP4B1-AS1,PTPN22c.2115C>G (p.Phe705Leu)
c.469-10314C>G (n.469-10314C>G)
c.1734C>G (p.Phe578Leu)
c.1950C>G (p.Phe650Leu)
c.*1393C>G (n.*1393C>G)
c.2043C>G (p.Phe681Leu)
c.2031C>G (p.Phe677Leu)
n.414+14496G>C
c.2037C>G (p.Phe679Leu)
c.1671C>G (p.Phe557Leu)
c.1770C>G (p.Phe590Leu)
1g.113829968G>TCA341701704AP4B1-AS1,PTPN22c.2115C>A (p.Phe705Leu)
c.469-10314C>A (n.469-10314C>A)
c.1734C>A (p.Phe578Leu)
c.1950C>A (p.Phe650Leu)
c.*1393C>A (n.*1393C>A)
c.2043C>A (p.Phe681Leu)
c.2031C>A (p.Phe677Leu)
n.414+14496G>T
c.2037C>A (p.Phe679Leu)
c.1671C>A (p.Phe557Leu)
c.1770C>A (p.Phe590Leu)
1g.113829969A>CCA341701708AP4B1-AS1,PTPN22c.2114T>G (p.Phe705Cys)
c.469-10315T>G (n.469-10315T>G)
c.1733T>G (p.Phe578Cys)
c.1949T>G (p.Phe650Cys)
c.*1392T>G (n.*1392T>G)
c.2042T>G (p.Phe681Cys)
c.2030T>G (p.Phe677Cys)
n.414+14497A>C
c.2036T>G (p.Phe679Cys)
c.1670T>G (p.Phe557Cys)
c.1769T>G (p.Phe590Cys)
1g.113829969A>GCA341701710AP4B1-AS1,PTPN22c.2114T>C (p.Phe705Ser)
c.469-10315T>C (n.469-10315T>C)
c.1733T>C (p.Phe578Ser)
c.1949T>C (p.Phe650Ser)
c.*1392T>C (n.*1392T>C)
c.2042T>C (p.Phe681Ser)
c.2030T>C (p.Phe677Ser)
n.414+14497A>G
c.2036T>C (p.Phe679Ser)
c.1670T>C (p.Phe557Ser)
c.1769T>C (p.Phe590Ser)
1g.113829969A>TCA341701707AP4B1-AS1,PTPN22c.2114T>A (p.Phe705Tyr)
c.469-10315T>A (n.469-10315T>A)
c.1733T>A (p.Phe578Tyr)
c.1949T>A (p.Phe650Tyr)
c.*1392T>A (n.*1392T>A)
c.2042T>A (p.Phe681Tyr)
c.2030T>A (p.Phe677Tyr)
n.414+14497A>T
c.2036T>A (p.Phe679Tyr)
c.1670T>A (p.Phe557Tyr)
c.1769T>A (p.Phe590Tyr)
1g.113829970A>CCA341701713AP4B1-AS1,PTPN22c.2113T>G (p.Phe705Val)
c.469-10316T>G (n.469-10316T>G)
c.1732T>G (p.Phe578Val)
c.1948T>G (p.Phe650Val)
c.*1391T>G (n.*1391T>G)
c.2041T>G (p.Phe681Val)
c.2029T>G (p.Phe677Val)
n.414+14498A>C
c.2035T>G (p.Phe679Val)
c.1669T>G (p.Phe557Val)
c.1768T>G (p.Phe590Val)
1g.113829970A>GCA341701715AP4B1-AS1,PTPN22c.2113T>C (p.Phe705Leu)
c.469-10316T>C (n.469-10316T>C)
c.1732T>C (p.Phe578Leu)
c.1948T>C (p.Phe650Leu)
c.*1391T>C (n.*1391T>C)
c.2041T>C (p.Phe681Leu)
c.2029T>C (p.Phe677Leu)
n.414+14498A>G
c.2035T>C (p.Phe679Leu)
c.1669T>C (p.Phe557Leu)
c.1768T>C (p.Phe590Leu)
1g.113829970A>TCA341701717AP4B1-AS1,PTPN22c.2113T>A (p.Phe705Ile)
c.469-10316T>A (n.469-10316T>A)
c.1732T>A (p.Phe578Ile)
c.1948T>A (p.Phe650Ile)
c.*1391T>A (n.*1391T>A)
c.2041T>A (p.Phe681Ile)
c.2029T>A (p.Phe677Ile)
n.414+14498A>T
c.2035T>A (p.Phe679Ile)
c.1669T>A (p.Phe557Ile)
c.1768T>A (p.Phe590Ile)
1g.113829970_113829971delCA645538047AP4B1-AS1,PTPN22c.2112_2113del (p.Phe705LeufsTer5)
c.469-10317_469-10316del (n.469-10317_469-10316del)
c.1731_1732del (p.Phe578LeufsTer5)
c.1947_1948del (p.Phe650LeufsTer5)
c.*1390_*1391del (n.*1390_*1391del)
c.2040_2041del (p.Phe681LeufsTer5)
c.2028_2029del (p.Phe677LeufsTer5)
n.414+14498_414+14499del
c.2034_2035del (p.Phe679LeufsTer5)
c.1668_1669del (p.Phe557LeufsTer5)
c.1767_1768del (p.Phe590LeufsTer5)
 COSMIC
1g.113829971_113829973delCA2745112906AP4B1-AS1,PTPN22c.2111_2113del (p.Ser704del)
c.469-10318_469-10316del (n.469-10318_469-10316del)
c.1730_1732del (p.Ser577del)
c.1946_1948del (p.Ser649del)
c.*1389_*1391del (n.*1389_*1391del)
c.2039_2041del (p.Ser680del)
c.2027_2029del (p.Ser676del)
n.414+14499_414+14501del
c.2033_2035del (p.Ser678del)
c.1667_1669del (p.Ser556del)
c.1766_1768del (p.Ser589del)
1g.113829971G>ACA419560046AP4B1-AS1,PTPN22c.2112C>T (p.Ser704=)
c.469-10317C>T (n.469-10317C>T)
c.1731C>T (p.Ser577=)
c.1947C>T (p.Ser649=)
c.*1390C>T (n.*1390C>T)
c.2040C>T (p.Ser680=)
c.2028C>T (p.Ser676=)
n.414+14499G>A
c.2034C>T (p.Ser678=)
c.1668C>T (p.Ser556=)
c.1767C>T (p.Ser589=)
1g.113829971G>CCA419560047AP4B1-AS1,PTPN22c.2112C>G (p.Ser704=)
c.469-10317C>G (n.469-10317C>G)
c.1731C>G (p.Ser577=)
c.1947C>G (p.Ser649=)
c.*1390C>G (n.*1390C>G)
c.2040C>G (p.Ser680=)
c.2028C>G (p.Ser676=)
n.414+14499G>C
c.2034C>G (p.Ser678=)
c.1668C>G (p.Ser556=)
c.1767C>G (p.Ser589=)
 gnomAD v4
1g.113829971G>TCA419560048AP4B1-AS1,PTPN22c.2112C>A (p.Ser704=)
c.469-10317C>A (n.469-10317C>A)
c.1731C>A (p.Ser577=)
c.1947C>A (p.Ser649=)
c.*1390C>A (n.*1390C>A)
c.2040C>A (p.Ser680=)
c.2028C>A (p.Ser676=)
n.414+14499G>T
c.2034C>A (p.Ser678=)
c.1668C>A (p.Ser556=)
c.1767C>A (p.Ser589=)
1g.113829972G>ACA341701719AP4B1-AS1,PTPN22c.2111C>T (p.Ser704Phe)
c.469-10318C>T (n.469-10318C>T)
c.1730C>T (p.Ser577Phe)
c.1946C>T (p.Ser649Phe)
c.*1389C>T (n.*1389C>T)
c.2039C>T (p.Ser680Phe)
c.2027C>T (p.Ser676Phe)
n.414+14500G>A
c.2033C>T (p.Ser678Phe)
c.1667C>T (p.Ser556Phe)
c.1766C>T (p.Ser589Phe)
 COSMIC
1g.113829972G>CCA341701722AP4B1-AS1,PTPN22c.2111C>G (p.Ser704Cys)
c.469-10318C>G (n.469-10318C>G)
c.1730C>G (p.Ser577Cys)
c.1946C>G (p.Ser649Cys)
c.*1389C>G (n.*1389C>G)
c.2039C>G (p.Ser680Cys)
c.2027C>G (p.Ser676Cys)
n.414+14500G>C
c.2033C>G (p.Ser678Cys)
c.1667C>G (p.Ser556Cys)
c.1766C>G (p.Ser589Cys)
1g.113829972G>TCA341701724AP4B1-AS1,PTPN22c.2111C>A (p.Ser704Tyr)
c.469-10318C>A (n.469-10318C>A)
c.1730C>A (p.Ser577Tyr)
c.1946C>A (p.Ser649Tyr)
c.*1389C>A (n.*1389C>A)
c.2039C>A (p.Ser680Tyr)
c.2027C>A (p.Ser676Tyr)
n.414+14500G>T
c.2033C>A (p.Ser678Tyr)
c.1667C>A (p.Ser556Tyr)
c.1766C>A (p.Ser589Tyr)
1g.113829973A=CA1189920249AP4B1-AS1,PTPN22c.2110T= (p.Ser704=)
c.469-10319T= (n.469-10319T=)
c.1729T= (p.Ser577=)
c.1945T= (p.Ser649=)
c.*1388T= (n.*1388T=)
c.2038T= (p.Ser680=)
c.2026T= (p.Ser676=)
n.414+14501A=
c.2032T= (p.Ser678=)
c.1666T= (p.Ser556=)
c.1765T= (p.Ser589=)
1g.113829973A>CCA1014827AP4B1-AS1,PTPN22c.2110T>G (p.Ser704Ala)
c.469-10319T>G (n.469-10319T>G)
c.1729T>G (p.Ser577Ala)
c.1945T>G (p.Ser649Ala)
c.*1388T>G (n.*1388T>G)
c.2038T>G (p.Ser680Ala)
c.2026T>G (p.Ser676Ala)
n.414+14501A>C
c.2032T>G (p.Ser678Ala)
c.1666T>G (p.Ser556Ala)
c.1765T>G (p.Ser589Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.113829973A>GCA341701727AP4B1-AS1,PTPN22c.2110T>C (p.Ser704Pro)
c.469-10319T>C (n.469-10319T>C)
c.1729T>C (p.Ser577Pro)
c.1945T>C (p.Ser649Pro)
c.*1388T>C (n.*1388T>C)
c.2038T>C (p.Ser680Pro)
c.2026T>C (p.Ser676Pro)
n.414+14501A>G
c.2032T>C (p.Ser678Pro)
c.1666T>C (p.Ser556Pro)
c.1765T>C (p.Ser589Pro)
 gnomAD v4
1g.113829973A>TCA341701729AP4B1-AS1,PTPN22c.2110T>A (p.Ser704Thr)
c.469-10319T>A (n.469-10319T>A)
c.1729T>A (p.Ser577Thr)
c.1945T>A (p.Ser649Thr)
c.*1388T>A (n.*1388T>A)
c.2038T>A (p.Ser680Thr)
c.2026T>A (p.Ser676Thr)
n.414+14501A>T
c.2032T>A (p.Ser678Thr)
c.1666T>A (p.Ser556Thr)
c.1765T>A (p.Ser589Thr)
1g.113829974C>ACA341701733AP4B1-AS1,PTPN22c.2109G>T (p.Glu703Asp)
c.469-10320G>T (n.469-10320G>T)
c.1728G>T (p.Glu576Asp)
c.1944G>T (p.Glu648Asp)
c.*1387G>T (n.*1387G>T)
c.2037G>T (p.Glu679Asp)
c.2025G>T (p.Glu675Asp)
n.414+14502C>A
c.2031G>T (p.Glu677Asp)
c.1665G>T (p.Glu555Asp)
c.1764G>T (p.Glu588Asp)
1g.113829974C=CA1189920250AP4B1-AS1,PTPN22c.2109G= (p.Glu703=)
c.469-10320G= (n.469-10320G=)
c.1728G= (p.Glu576=)
c.1944G= (p.Glu648=)
c.*1387G= (n.*1387G=)
c.2037G= (p.Glu679=)
c.2025G= (p.Glu675=)
n.414+14502C=
c.2031G= (p.Glu677=)
c.1665G= (p.Glu555=)
c.1764G= (p.Glu588=)
1g.113829974C>GCA341701734AP4B1-AS1,PTPN22c.2109G>C (p.Glu703Asp)
c.469-10320G>C (n.469-10320G>C)
c.1728G>C (p.Glu576Asp)
c.1944G>C (p.Glu648Asp)
c.*1387G>C (n.*1387G>C)
c.2037G>C (p.Glu679Asp)
c.2025G>C (p.Glu675Asp)
n.414+14502C>G
c.2031G>C (p.Glu677Asp)
c.1665G>C (p.Glu555Asp)
c.1764G>C (p.Glu588Asp)
 gnomAD v4
1g.113829974C>TCA419560049AP4B1-AS1,PTPN22c.2109G>A (p.Glu703=)
c.469-10320G>A (n.469-10320G>A)
c.1728G>A (p.Glu576=)
c.1944G>A (p.Glu648=)
c.*1387G>A (n.*1387G>A)
c.2037G>A (p.Glu679=)
c.2025G>A (p.Glu675=)
n.414+14502C>T
c.2031G>A (p.Glu677=)
c.1665G>A (p.Glu555=)
c.1764G>A (p.Glu588=)
 dbSNP gnomAD v3 gnomAD v4
1g.113829975T>ACA341701738AP4B1-AS1,PTPN22c.2108A>T (p.Glu703Val)
c.469-10321A>T (n.469-10321A>T)
c.1727A>T (p.Glu576Val)
c.1943A>T (p.Glu648Val)
c.*1386A>T (n.*1386A>T)
c.2036A>T (p.Glu679Val)
c.2024A>T (p.Glu675Val)
n.414+14503T>A
c.2030A>T (p.Glu677Val)
c.1664A>T (p.Glu555Val)
c.1763A>T (p.Glu588Val)
 gnomAD v4
1g.113829975T>CCA341701740AP4B1-AS1,PTPN22c.2108A>G (p.Glu703Gly)
c.469-10321A>G (n.469-10321A>G)
c.1727A>G (p.Glu576Gly)
c.1943A>G (p.Glu648Gly)
c.*1386A>G (n.*1386A>G)
c.2036A>G (p.Glu679Gly)
c.2024A>G (p.Glu675Gly)
n.414+14503T>C
c.2030A>G (p.Glu677Gly)
c.1664A>G (p.Glu555Gly)
c.1763A>G (p.Glu588Gly)
1g.113829975T>GCA341701743AP4B1-AS1,PTPN22c.2108A>C (p.Glu703Ala)
c.469-10321A>C (n.469-10321A>C)
c.1727A>C (p.Glu576Ala)
c.1943A>C (p.Glu648Ala)
c.*1386A>C (n.*1386A>C)
c.2036A>C (p.Glu679Ala)
c.2024A>C (p.Glu675Ala)
n.414+14503T>G
c.2030A>C (p.Glu677Ala)
c.1664A>C (p.Glu555Ala)
c.1763A>C (p.Glu588Ala)
1g.113829976C>ACA341701751AP4B1-AS1,PTPN22c.2107G>T (p.Glu703Ter)
c.469-10322G>T (n.469-10322G>T)
c.1726G>T (p.Glu576Ter)
c.1942G>T (p.Glu648Ter)
c.*1385G>T (n.*1385G>T)
c.2035G>T (p.Glu679Ter)
c.2023G>T (p.Glu675Ter)
n.414+14504C>A
c.2029G>T (p.Glu677Ter)
c.1663G>T (p.Glu555Ter)
c.1762G>T (p.Glu588Ter)
1g.113829976C>GCA341701754AP4B1-AS1,PTPN22c.2107G>C (p.Glu703Gln)
c.469-10322G>C (n.469-10322G>C)
c.1726G>C (p.Glu576Gln)
c.1942G>C (p.Glu648Gln)
c.*1385G>C (n.*1385G>C)
c.2035G>C (p.Glu679Gln)
c.2023G>C (p.Glu675Gln)
n.414+14504C>G
c.2029G>C (p.Glu677Gln)
c.1663G>C (p.Glu555Gln)
c.1762G>C (p.Glu588Gln)
 gnomAD v4
1g.113829976C>TCA341701753AP4B1-AS1,PTPN22c.2107G>A (p.Glu703Lys)
c.469-10322G>A (n.469-10322G>A)
c.1726G>A (p.Glu576Lys)
c.1942G>A (p.Glu648Lys)
c.*1385G>A (n.*1385G>A)
c.2035G>A (p.Glu679Lys)
c.2023G>A (p.Glu675Lys)
n.414+14504C>T
c.2029G>A (p.Glu677Lys)
c.1663G>A (p.Glu555Lys)
c.1762G>A (p.Glu588Lys)
1g.113829976_113829978delinsCTACA1189920251AP4B1-AS1,PTPN22c.2105_2107delinsTAG (p.Leu702=)
c.469-10324_469-10322delinsTAG (n.469-10324_469-10322delinsTAG)
c.1724_1726delinsTAG (p.Leu575=)
c.1940_1942delinsTAG (p.Leu647=)
c.*1383_*1385delinsTAG (n.*1383_*1385delinsTAG)
c.2033_2035delinsTAG (p.Leu678=)
c.2021_2023delinsTAG (p.Leu674=)
n.414+14504_414+14506delinsCTA
c.2027_2029delinsTAG (p.Leu676=)
c.1661_1663delinsTAG (p.Leu554=)
c.1760_1762delinsTAG (p.Leu587=)
1g.113829977T>ACA419560051AP4B1-AS1,PTPN22c.2106A>T (p.Leu702=)
c.469-10323A>T (n.469-10323A>T)
c.1725A>T (p.Leu575=)
c.1941A>T (p.Leu647=)
c.*1384A>T (n.*1384A>T)
c.2034A>T (p.Leu678=)
c.2022A>T (p.Leu674=)
n.414+14505T>A
c.2028A>T (p.Leu676=)
c.1662A>T (p.Leu554=)
c.1761A>T (p.Leu587=)
1g.113829977T>CCA419560052AP4B1-AS1,PTPN22c.2106A>G (p.Leu702=)
c.469-10323A>G (n.469-10323A>G)
c.1725A>G (p.Leu575=)
c.1941A>G (p.Leu647=)
c.*1384A>G (n.*1384A>G)
c.2034A>G (p.Leu678=)
c.2022A>G (p.Leu674=)
n.414+14505T>C
c.2028A>G (p.Leu676=)
c.1662A>G (p.Leu554=)
c.1761A>G (p.Leu587=)
 gnomAD v4
1g.113829977T>GCA419560050AP4B1-AS1,PTPN22c.2106A>C (p.Leu702=)
c.469-10323A>C (n.469-10323A>C)
c.1725A>C (p.Leu575=)
c.1941A>C (p.Leu647=)
c.*1384A>C (n.*1384A>C)
c.2034A>C (p.Leu678=)
c.2022A>C (p.Leu674=)
n.414+14505T>G
c.2028A>C (p.Leu676=)
c.1662A>C (p.Leu554=)
c.1761A>C (p.Leu587=)
1g.113829977_113829978delCA1014828AP4B1-AS1,PTPN22c.2105_2106del (p.Leu702ArgfsTer8)
c.469-10324_469-10323del (n.469-10324_469-10323del)
c.1724_1725del (p.Leu575ArgfsTer8)
c.1940_1941del (p.Leu647ArgfsTer8)
c.*1383_*1384del (n.*1383_*1384del)
c.2033_2034del (p.Leu678ArgfsTer8)
c.2021_2022del (p.Leu674ArgfsTer8)
n.414+14505_414+14506del
c.2027_2028del (p.Leu676ArgfsTer8)
c.1661_1662del (p.Leu554ArgfsTer8)
c.1760_1761del (p.Leu587ArgfsTer8)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.113829978A>CCA341701761AP4B1-AS1,PTPN22c.2105T>G (p.Leu702Arg)
c.469-10324T>G (n.469-10324T>G)
c.1724T>G (p.Leu575Arg)
c.1940T>G (p.Leu647Arg)
c.*1383T>G (n.*1383T>G)
c.2033T>G (p.Leu678Arg)
c.2021T>G (p.Leu674Arg)
n.414+14506A>C
c.2027T>G (p.Leu676Arg)
c.1661T>G (p.Leu554Arg)
c.1760T>G (p.Leu587Arg)
1g.113829978A>GCA341701763AP4B1-AS1,PTPN22c.2105T>C (p.Leu702Pro)
c.469-10324T>C (n.469-10324T>C)
c.1724T>C (p.Leu575Pro)
c.1940T>C (p.Leu647Pro)
c.*1383T>C (n.*1383T>C)
c.2033T>C (p.Leu678Pro)
c.2021T>C (p.Leu674Pro)
n.414+14506A>G
c.2027T>C (p.Leu676Pro)
c.1661T>C (p.Leu554Pro)
c.1760T>C (p.Leu587Pro)
1g.113829978A>TCA341701766AP4B1-AS1,PTPN22c.2105T>A (p.Leu702Gln)
c.469-10324T>A (n.469-10324T>A)
c.1724T>A (p.Leu575Gln)
c.1940T>A (p.Leu647Gln)
c.*1383T>A (n.*1383T>A)
c.2033T>A (p.Leu678Gln)
c.2021T>A (p.Leu674Gln)
n.414+14506A>T
c.2027T>A (p.Leu676Gln)
c.1661T>A (p.Leu554Gln)
c.1760T>A (p.Leu587Gln)
1g.113829979G>ACA419560053AP4B1-AS1,PTPN22c.2104C>T (p.Leu702=)
c.469-10325C>T (n.469-10325C>T)
c.1723C>T (p.Leu575=)
c.1939C>T (p.Leu647=)
c.*1382C>T (n.*1382C>T)
c.2032C>T (p.Leu678=)
c.2020C>T (p.Leu674=)
n.414+14507G>A
c.2026C>T (p.Leu676=)
c.1660C>T (p.Leu554=)
c.1759C>T (p.Leu587=)
1g.113829979G>CCA341701770AP4B1-AS1,PTPN22c.2104C>G (p.Leu702Val)
c.469-10325C>G (n.469-10325C>G)
c.1723C>G (p.Leu575Val)
c.1939C>G (p.Leu647Val)
c.*1382C>G (n.*1382C>G)
c.2032C>G (p.Leu678Val)
c.2020C>G (p.Leu674Val)
n.414+14507G>C
c.2026C>G (p.Leu676Val)
c.1660C>G (p.Leu554Val)
c.1759C>G (p.Leu587Val)
1g.113829979G>TCA341701771AP4B1-AS1,PTPN22c.2104C>A (p.Leu702Ile)
c.469-10325C>A (n.469-10325C>A)
c.1723C>A (p.Leu575Ile)
c.1939C>A (p.Leu647Ile)
c.*1382C>A (n.*1382C>A)
c.2032C>A (p.Leu678Ile)
c.2020C>A (p.Leu674Ile)
n.414+14507G>T
c.2026C>A (p.Leu676Ile)
c.1660C>A (p.Leu554Ile)
c.1759C>A (p.Leu587Ile)
1g.113829980A=CA1189920252AP4B1-AS1,PTPN22c.2103T= (p.Thr701=)
c.469-10326T= (n.469-10326T=)
c.1722T= (p.Thr574=)
c.1938T= (p.Thr646=)
c.*1381T= (n.*1381T=)
c.2031T= (p.Thr677=)
c.2019T= (p.Thr673=)
n.414+14508A=
c.2025T= (p.Thr675=)
c.1659T= (p.Thr553=)
c.1758T= (p.Thr586=)
1g.113829980A>CCA419560056AP4B1-AS1,PTPN22c.2103T>G (p.Thr701=)
c.469-10326T>G (n.469-10326T>G)
c.1722T>G (p.Thr574=)
c.1938T>G (p.Thr646=)
c.*1381T>G (n.*1381T>G)
c.2031T>G (p.Thr677=)
c.2019T>G (p.Thr673=)
n.414+14508A>C
c.2025T>G (p.Thr675=)
c.1659T>G (p.Thr553=)
c.1758T>G (p.Thr586=)
1g.113829980A>GCA419560055AP4B1-AS1,PTPN22c.2103T>C (p.Thr701=)
c.469-10326T>C (n.469-10326T>C)
c.1722T>C (p.Thr574=)
c.1938T>C (p.Thr646=)
c.*1381T>C (n.*1381T>C)
c.2031T>C (p.Thr677=)
c.2019T>C (p.Thr673=)
n.414+14508A>G
c.2025T>C (p.Thr675=)
c.1659T>C (p.Thr553=)
c.1758T>C (p.Thr586=)
 dbSNP gnomAD v2 gnomAD v4
1g.113829980A>TCA419560054AP4B1-AS1,PTPN22c.2103T>A (p.Thr701=)
c.469-10326T>A (n.469-10326T>A)
c.1722T>A (p.Thr574=)
c.1938T>A (p.Thr646=)
c.*1381T>A (n.*1381T>A)
c.2031T>A (p.Thr677=)
c.2019T>A (p.Thr673=)
n.414+14508A>T
c.2025T>A (p.Thr675=)
c.1659T>A (p.Thr553=)
c.1758T>A (p.Thr586=)
 gnomAD v4
1g.113829981G>ACA341701774AP4B1-AS1,PTPN22c.2102C>T (p.Thr701Ile)
c.469-10327C>T (n.469-10327C>T)
c.1721C>T (p.Thr574Ile)
c.1937C>T (p.Thr646Ile)
c.*1380C>T (n.*1380C>T)
c.2030C>T (p.Thr677Ile)
c.2018C>T (p.Thr673Ile)
n.414+14509G>A
c.2024C>T (p.Thr675Ile)
c.1658C>T (p.Thr553Ile)
c.1757C>T (p.Thr586Ile)
1g.113829981G>CCA341701775AP4B1-AS1,PTPN22c.2102C>G (p.Thr701Ser)
c.469-10327C>G (n.469-10327C>G)
c.1721C>G (p.Thr574Ser)
c.1937C>G (p.Thr646Ser)
c.*1380C>G (n.*1380C>G)
c.2030C>G (p.Thr677Ser)
c.2018C>G (p.Thr673Ser)
n.414+14509G>C
c.2024C>G (p.Thr675Ser)
c.1658C>G (p.Thr553Ser)
c.1757C>G (p.Thr586Ser)
1g.113829981G>TCA341701777AP4B1-AS1,PTPN22c.2102C>A (p.Thr701Asn)
c.469-10327C>A (n.469-10327C>A)
c.1721C>A (p.Thr574Asn)
c.1937C>A (p.Thr646Asn)
c.*1380C>A (n.*1380C>A)
c.2030C>A (p.Thr677Asn)
c.2018C>A (p.Thr673Asn)
n.414+14509G>T
c.2024C>A (p.Thr675Asn)
c.1658C>A (p.Thr553Asn)
c.1757C>A (p.Thr586Asn)
 gnomAD v4
1g.113829982T>ACA341701778AP4B1-AS1,PTPN22c.2101A>T (p.Thr701Ser)
c.469-10328A>T (n.469-10328A>T)
c.1720A>T (p.Thr574Ser)
c.1936A>T (p.Thr646Ser)
c.*1379A>T (n.*1379A>T)
c.2029A>T (p.Thr677Ser)
c.2017A>T (p.Thr673Ser)
n.414+14510T>A
c.2023A>T (p.Thr675Ser)
c.1657A>T (p.Thr553Ser)
c.1756A>T (p.Thr586Ser)
1g.113829982T>CCA341701780AP4B1-AS1,PTPN22c.2101A>G (p.Thr701Ala)
c.469-10328A>G (n.469-10328A>G)
c.1720A>G (p.Thr574Ala)
c.1936A>G (p.Thr646Ala)
c.*1379A>G (n.*1379A>G)
c.2029A>G (p.Thr677Ala)
c.2017A>G (p.Thr673Ala)
n.414+14510T>C
c.2023A>G (p.Thr675Ala)
c.1657A>G (p.Thr553Ala)
c.1756A>G (p.Thr586Ala)
1g.113829982T>GCA341701783AP4B1-AS1,PTPN22c.2101A>C (p.Thr701Pro)
c.469-10328A>C (n.469-10328A>C)
c.1720A>C (p.Thr574Pro)
c.1936A>C (p.Thr646Pro)
c.*1379A>C (n.*1379A>C)
c.2029A>C (p.Thr677Pro)
c.2017A>C (p.Thr673Pro)
n.414+14510T>G
c.2023A>C (p.Thr675Pro)
c.1657A>C (p.Thr553Pro)
c.1756A>C (p.Thr586Pro)
 gnomAD v4
1g.113829983T>ACA341701788AP4B1-AS1,PTPN22c.2100A>T (p.Arg700Ser)
c.469-10329A>T (n.469-10329A>T)
c.1719A>T (p.Arg573Ser)
c.1935A>T (p.Arg645Ser)
c.*1378A>T (n.*1378A>T)
c.2028A>T (p.Arg676Ser)
c.2016A>T (p.Arg672Ser)
n.414+14511T>A
c.2022A>T (p.Arg674Ser)
c.1656A>T (p.Arg552Ser)
c.1755A>T (p.Arg585Ser)
1g.113829983T>CCA419560057AP4B1-AS1,PTPN22c.2100A>G (p.Arg700=)
c.469-10329A>G (n.469-10329A>G)
c.1719A>G (p.Arg573=)
c.1935A>G (p.Arg645=)
c.*1378A>G (n.*1378A>G)
c.2028A>G (p.Arg676=)
c.2016A>G (p.Arg672=)
n.414+14511T>C
c.2022A>G (p.Arg674=)
c.1656A>G (p.Arg552=)
c.1755A>G (p.Arg585=)
 dbSNP
1g.113829983T>GCA341701786AP4B1-AS1,PTPN22c.2100A>C (p.Arg700Ser)
c.469-10329A>C (n.469-10329A>C)
c.1719A>C (p.Arg573Ser)
c.1935A>C (p.Arg645Ser)
c.*1378A>C (n.*1378A>C)
c.2028A>C (p.Arg676Ser)
c.2016A>C (p.Arg672Ser)
n.414+14511T>G
c.2022A>C (p.Arg674Ser)
c.1656A>C (p.Arg552Ser)
c.1755A>C (p.Arg585Ser)
1g.113829983T=CA1189920253AP4B1-AS1,PTPN22c.2100A= (p.Arg700=)
c.469-10329A= (n.469-10329A=)
c.1719A= (p.Arg573=)
c.1935A= (p.Arg645=)
c.*1378A= (n.*1378A=)
c.2028A= (p.Arg676=)
c.2016A= (p.Arg672=)
n.414+14511T=
c.2022A= (p.Arg674=)
c.1656A= (p.Arg552=)
c.1755A= (p.Arg585=)
1g.113829984C>ACA341701791AP4B1-AS1,PTPN22c.2099G>T (p.Arg700Ile)
c.469-10330G>T (n.469-10330G>T)
c.1718G>T (p.Arg573Ile)
c.1934G>T (p.Arg645Ile)
c.*1377G>T (n.*1377G>T)
c.2027G>T (p.Arg676Ile)
c.2015G>T (p.Arg672Ile)
n.414+14512C>A
c.2021G>T (p.Arg674Ile)
c.1655G>T (p.Arg552Ile)
c.1754G>T (p.Arg585Ile)
1g.113829984C>GCA341701795AP4B1-AS1,PTPN22c.2099G>C (p.Arg700Thr)
c.469-10330G>C (n.469-10330G>C)
c.1718G>C (p.Arg573Thr)
c.1934G>C (p.Arg645Thr)
c.*1377G>C (n.*1377G>C)
c.2027G>C (p.Arg676Thr)
c.2015G>C (p.Arg672Thr)
n.414+14512C>G
c.2021G>C (p.Arg674Thr)
c.1655G>C (p.Arg552Thr)
c.1754G>C (p.Arg585Thr)
1g.113829984C>TCA341701793AP4B1-AS1,PTPN22c.2099G>A (p.Arg700Lys)
c.469-10330G>A (n.469-10330G>A)
c.1718G>A (p.Arg573Lys)
c.1934G>A (p.Arg645Lys)
c.*1377G>A (n.*1377G>A)
c.2027G>A (p.Arg676Lys)
c.2015G>A (p.Arg672Lys)
n.414+14512C>T
c.2021G>A (p.Arg674Lys)
c.1655G>A (p.Arg552Lys)
c.1754G>A (p.Arg585Lys)
1g.113829985T>ACA341701798AP4B1-AS1,PTPN22c.2098A>T (p.Arg700Ter)
c.469-10331A>T (n.469-10331A>T)
c.1717A>T (p.Arg573Ter)
c.1933A>T (p.Arg645Ter)
c.*1376A>T (n.*1376A>T)
c.2026A>T (p.Arg676Ter)
c.2014A>T (p.Arg672Ter)
n.414+14513T>A
c.2020A>T (p.Arg674Ter)
c.1654A>T (p.Arg552Ter)
c.1753A>T (p.Arg585Ter)
1g.113829985T>CCA341701799AP4B1-AS1,PTPN22c.2098A>G (p.Arg700Gly)
c.469-10331A>G (n.469-10331A>G)
c.1717A>G (p.Arg573Gly)
c.1933A>G (p.Arg645Gly)
c.*1376A>G (n.*1376A>G)
c.2026A>G (p.Arg676Gly)
c.2014A>G (p.Arg672Gly)
n.414+14513T>C
c.2020A>G (p.Arg674Gly)
c.1654A>G (p.Arg552Gly)
c.1753A>G (p.Arg585Gly)
 dbSNP
1g.113829985T>GCA419560058AP4B1-AS1,PTPN22c.2098A>C (p.Arg700=)
c.469-10331A>C (n.469-10331A>C)
c.1717A>C (p.Arg573=)
c.1933A>C (p.Arg645=)
c.*1376A>C (n.*1376A>C)
c.2026A>C (p.Arg676=)
c.2014A>C (p.Arg672=)
n.414+14513T>G
c.2020A>C (p.Arg674=)
c.1654A>C (p.Arg552=)
c.1753A>C (p.Arg585=)
1g.113829985T=CA1189920254AP4B1-AS1,PTPN22c.2098A= (p.Arg700=)
c.469-10331A= (n.469-10331A=)
c.1717A= (p.Arg573=)
c.1933A= (p.Arg645=)
c.*1376A= (n.*1376A=)
c.2026A= (p.Arg676=)
c.2014A= (p.Arg672=)
n.414+14513T=
c.2020A= (p.Arg674=)
c.1654A= (p.Arg552=)
c.1753A= (p.Arg585=)
1g.113829986T>ACA341701802AP4B1-AS1,PTPN22c.2097A>T (p.Glu699Asp)
c.469-10332A>T (n.469-10332A>T)
c.1716A>T (p.Glu572Asp)
c.1932A>T (p.Glu644Asp)
c.*1375A>T (n.*1375A>T)
c.2025A>T (p.Glu675Asp)
c.2013A>T (p.Glu671Asp)
n.414+14514T>A
c.2019A>T (p.Glu673Asp)
c.1653A>T (p.Glu551Asp)
c.1752A>T (p.Glu584Asp)
1g.113829986T>CCA419560059AP4B1-AS1,PTPN22c.2097A>G (p.Glu699=)
c.469-10332A>G (n.469-10332A>G)
c.1716A>G (p.Glu572=)
c.1932A>G (p.Glu644=)
c.*1375A>G (n.*1375A>G)
c.2025A>G (p.Glu675=)
c.2013A>G (p.Glu671=)
n.414+14514T>C
c.2019A>G (p.Glu673=)
c.1653A>G (p.Glu551=)
c.1752A>G (p.Glu584=)
 gnomAD v4
1g.113829986T>GCA341701805AP4B1-AS1,PTPN22c.2097A>C (p.Glu699Asp)
c.469-10332A>C (n.469-10332A>C)
c.1716A>C (p.Glu572Asp)
c.1932A>C (p.Glu644Asp)
c.*1375A>C (n.*1375A>C)
c.2025A>C (p.Glu675Asp)
c.2013A>C (p.Glu671Asp)
n.414+14514T>G
c.2019A>C (p.Glu673Asp)
c.1653A>C (p.Glu551Asp)
c.1752A>C (p.Glu584Asp)
1g.113829987T>ACA341701807AP4B1-AS1,PTPN22c.2096A>T (p.Glu699Val)
c.469-10333A>T (n.469-10333A>T)
c.1715A>T (p.Glu572Val)
c.1931A>T (p.Glu644Val)
c.*1374A>T (n.*1374A>T)
c.2024A>T (p.Glu675Val)
c.2012A>T (p.Glu671Val)
n.414+14515T>A
c.2018A>T (p.Glu673Val)
c.1652A>T (p.Glu551Val)
c.1751A>T (p.Glu584Val)
1g.113829987T>CCA341701810AP4B1-AS1,PTPN22c.2096A>G (p.Glu699Gly)
c.469-10333A>G (n.469-10333A>G)
c.1715A>G (p.Glu572Gly)
c.1931A>G (p.Glu644Gly)
c.*1374A>G (n.*1374A>G)
c.2024A>G (p.Glu675Gly)
c.2012A>G (p.Glu671Gly)
n.414+14515T>C
c.2018A>G (p.Glu673Gly)
c.1652A>G (p.Glu551Gly)
c.1751A>G (p.Glu584Gly)
1g.113829987T>GCA341701809AP4B1-AS1,PTPN22c.2096A>C (p.Glu699Ala)
c.469-10333A>C (n.469-10333A>C)
c.1715A>C (p.Glu572Ala)
c.1931A>C (p.Glu644Ala)
c.*1374A>C (n.*1374A>C)
c.2024A>C (p.Glu675Ala)
c.2012A>C (p.Glu671Ala)
n.414+14515T>G
c.2018A>C (p.Glu673Ala)
c.1652A>C (p.Glu551Ala)
c.1751A>C (p.Glu584Ala)
1g.113829988C>ACA341701811AP4B1-AS1,PTPN22c.2095G>T (p.Glu699Ter)
c.469-10334G>T (n.469-10334G>T)
c.1714G>T (p.Glu572Ter)
c.1930G>T (p.Glu644Ter)
c.*1373G>T (n.*1373G>T)
c.2023G>T (p.Glu675Ter)
c.2011G>T (p.Glu671Ter)
n.414+14516C>A
c.2017G>T (p.Glu673Ter)
c.1651G>T (p.Glu551Ter)
c.1750G>T (p.Glu584Ter)
1g.113829988C>GCA341701812AP4B1-AS1,PTPN22c.2095G>C (p.Glu699Gln)
c.469-10334G>C (n.469-10334G>C)
c.1714G>C (p.Glu572Gln)
c.1930G>C (p.Glu644Gln)
c.*1373G>C (n.*1373G>C)
c.2023G>C (p.Glu675Gln)
c.2011G>C (p.Glu671Gln)
n.414+14516C>G
c.2017G>C (p.Glu673Gln)
c.1651G>C (p.Glu551Gln)
c.1750G>C (p.Glu584Gln)
1g.113829988C>TCA341701813AP4B1-AS1,PTPN22c.2095G>A (p.Glu699Lys)
c.469-10334G>A (n.469-10334G>A)
c.1714G>A (p.Glu572Lys)
c.1930G>A (p.Glu644Lys)
c.*1373G>A (n.*1373G>A)
c.2023G>A (p.Glu675Lys)
c.2011G>A (p.Glu671Lys)
n.414+14516C>T
c.2017G>A (p.Glu673Lys)
c.1651G>A (p.Glu551Lys)
c.1750G>A (p.Glu584Lys)
 COSMIC
1g.113829989T>ACA419560060AP4B1-AS1,PTPN22c.2094A>T (p.Pro698=)
c.469-10335A>T (n.469-10335A>T)
c.1713A>T (p.Pro571=)
c.1929A>T (p.Pro643=)
c.*1372A>T (n.*1372A>T)
c.2022A>T (p.Pro674=)
c.2010A>T (p.Pro670=)
n.414+14517T>A
c.2016A>T (p.Pro672=)
c.1650A>T (p.Pro550=)
c.1749A>T (p.Pro583=)
1g.113829989T>CCA419560061AP4B1-AS1,PTPN22c.2094A>G (p.Pro698=)
c.469-10335A>G (n.469-10335A>G)
c.1713A>G (p.Pro571=)
c.1929A>G (p.Pro643=)
c.*1372A>G (n.*1372A>G)
c.2022A>G (p.Pro674=)
c.2010A>G (p.Pro670=)
n.414+14517T>C
c.2016A>G (p.Pro672=)
c.1650A>G (p.Pro550=)
c.1749A>G (p.Pro583=)
 dbSNP gnomAD v2 gnomAD v4
1g.113829989T>GCA419560062AP4B1-AS1,PTPN22c.2094A>C (p.Pro698=)
c.469-10335A>C (n.469-10335A>C)
c.1713A>C (p.Pro571=)
c.1929A>C (p.Pro643=)
c.*1372A>C (n.*1372A>C)
c.2022A>C (p.Pro674=)
c.2010A>C (p.Pro670=)
n.414+14517T>G
c.2016A>C (p.Pro672=)
c.1650A>C (p.Pro550=)
c.1749A>C (p.Pro583=)
1g.113829989T=CA1189920255AP4B1-AS1,PTPN22c.2094A= (p.Pro698=)
c.469-10335A= (n.469-10335A=)
c.1713A= (p.Pro571=)
c.1929A= (p.Pro643=)
c.*1372A= (n.*1372A=)
c.2022A= (p.Pro674=)
c.2010A= (p.Pro670=)
n.414+14517T=
c.2016A= (p.Pro672=)
c.1650A= (p.Pro550=)
c.1749A= (p.Pro583=)
1g.113829990G>ACA341701815AP4B1-AS1,PTPN22c.2093C>T (p.Pro698Leu)
c.469-10336C>T (n.469-10336C>T)
c.1712C>T (p.Pro571Leu)
c.1928C>T (p.Pro643Leu)
c.*1371C>T (n.*1371C>T)
c.2021C>T (p.Pro674Leu)
c.2009C>T (p.Pro670Leu)
n.414+14518G>A
c.2015C>T (p.Pro672Leu)
c.1649C>T (p.Pro550Leu)
c.1748C>T (p.Pro583Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.113829990G>CCA341701818AP4B1-AS1,PTPN22c.2093C>G (p.Pro698Arg)
c.469-10336C>G (n.469-10336C>G)
c.1712C>G (p.Pro571Arg)
c.1928C>G (p.Pro643Arg)
c.*1371C>G (n.*1371C>G)
c.2021C>G (p.Pro674Arg)
c.2009C>G (p.Pro670Arg)
n.414+14518G>C
c.2015C>G (p.Pro672Arg)
c.1649C>G (p.Pro550Arg)
c.1748C>G (p.Pro583Arg)
1g.113829990G=CA1189920256AP4B1-AS1,PTPN22c.2093C= (p.Pro698=)
c.469-10336C= (n.469-10336C=)
c.1712C= (p.Pro571=)
c.1928C= (p.Pro643=)
c.*1371C= (n.*1371C=)
c.2021C= (p.Pro674=)
c.2009C= (p.Pro670=)
n.414+14518G=
c.2015C= (p.Pro672=)
c.1649C= (p.Pro550=)
c.1748C= (p.Pro583=)
1g.113829990G>TCA341701820AP4B1-AS1,PTPN22c.2093C>A (p.Pro698Gln)
c.469-10336C>A (n.469-10336C>A)
c.1712C>A (p.Pro571Gln)
c.1928C>A (p.Pro643Gln)
c.*1371C>A (n.*1371C>A)
c.2021C>A (p.Pro674Gln)
c.2009C>A (p.Pro670Gln)
n.414+14518G>T
c.2015C>A (p.Pro672Gln)
c.1649C>A (p.Pro550Gln)
c.1748C>A (p.Pro583Gln)
1g.113829991G>ACA341701823AP4B1-AS1,PTPN22c.2092C>T (p.Pro698Ser)
c.469-10337C>T (n.469-10337C>T)
c.1711C>T (p.Pro571Ser)
c.1927C>T (p.Pro643Ser)
c.*1370C>T (n.*1370C>T)
c.2020C>T (p.Pro674Ser)
c.2008C>T (p.Pro670Ser)
n.414+14519G>A
c.2014C>T (p.Pro672Ser)
c.1648C>T (p.Pro550Ser)
c.1747C>T (p.Pro583Ser)
 gnomAD v4 COSMIC
1g.113829991G>CCA341701824AP4B1-AS1,PTPN22c.2092C>G (p.Pro698Ala)
c.469-10337C>G (n.469-10337C>G)
c.1711C>G (p.Pro571Ala)
c.1927C>G (p.Pro643Ala)
c.*1370C>G (n.*1370C>G)
c.2020C>G (p.Pro674Ala)
c.2008C>G (p.Pro670Ala)
n.414+14519G>C
c.2014C>G (p.Pro672Ala)
c.1648C>G (p.Pro550Ala)
c.1747C>G (p.Pro583Ala)
1g.113829991G>TCA341701827AP4B1-AS1,PTPN22c.2092C>A (p.Pro698Thr)
c.469-10337C>A (n.469-10337C>A)
c.1711C>A (p.Pro571Thr)
c.1927C>A (p.Pro643Thr)
c.*1370C>A (n.*1370C>A)
c.2020C>A (p.Pro674Thr)
c.2008C>A (p.Pro670Thr)
n.414+14519G>T
c.2014C>A (p.Pro672Thr)
c.1648C>A (p.Pro550Thr)
c.1747C>A (p.Pro583Thr)
1g.113829992G>ACA419560063AP4B1-AS1,PTPN22c.2091C>T (p.Leu697=)
c.469-10338C>T (n.469-10338C>T)
c.1710C>T (p.Leu570=)
c.1926C>T (p.Leu642=)
c.*1369C>T (n.*1369C>T)
c.2019C>T (p.Leu673=)
c.2007C>T (p.Leu669=)
n.414+14520G>A
c.2013C>T (p.Leu671=)
c.1647C>T (p.Leu549=)
c.1746C>T (p.Leu582=)
 dbSNP gnomAD v2
1g.113829992G>CCA419560064AP4B1-AS1,PTPN22c.2091C>G (p.Leu697=)
c.469-10338C>G (n.469-10338C>G)
c.1710C>G (p.Leu570=)
c.1926C>G (p.Leu642=)
c.*1369C>G (n.*1369C>G)
c.2019C>G (p.Leu673=)
c.2007C>G (p.Leu669=)
n.414+14520G>C
c.2013C>G (p.Leu671=)
c.1647C>G (p.Leu549=)
c.1746C>G (p.Leu582=)
1g.113829992G=CA1189920257AP4B1-AS1,PTPN22c.2091C= (p.Leu697=)
c.469-10338C= (n.469-10338C=)
c.1710C= (p.Leu570=)
c.1926C= (p.Leu642=)
c.*1369C= (n.*1369C=)
c.2019C= (p.Leu673=)
c.2007C= (p.Leu669=)
n.414+14520G=
c.2013C= (p.Leu671=)
c.1647C= (p.Leu549=)
c.1746C= (p.Leu582=)
1g.113829992G>TCA419560065AP4B1-AS1,PTPN22c.2091C>A (p.Leu697=)
c.469-10338C>A (n.469-10338C>A)
c.1710C>A (p.Leu570=)
c.1926C>A (p.Leu642=)
c.*1369C>A (n.*1369C>A)
c.2019C>A (p.Leu673=)
c.2007C>A (p.Leu669=)
n.414+14520G>T
c.2013C>A (p.Leu671=)
c.1647C>A (p.Leu549=)
c.1746C>A (p.Leu582=)
1g.113829993A>CCA341701828AP4B1-AS1,PTPN22c.2090T>G (p.Leu697Arg)
c.469-10339T>G (n.469-10339T>G)
c.1709T>G (p.Leu570Arg)
c.1925T>G (p.Leu642Arg)
c.*1368T>G (n.*1368T>G)
c.2018T>G (p.Leu673Arg)
c.2006T>G (p.Leu669Arg)
n.414+14521A>C
c.2012T>G (p.Leu671Arg)
c.1646T>G (p.Leu549Arg)
c.1745T>G (p.Leu582Arg)
1g.113829993A>GCA341701831AP4B1-AS1,PTPN22c.2090T>C (p.Leu697Pro)
c.469-10339T>C (n.469-10339T>C)
c.1709T>C (p.Leu570Pro)
c.1925T>C (p.Leu642Pro)
c.*1368T>C (n.*1368T>C)
c.2018T>C (p.Leu673Pro)
c.2006T>C (p.Leu669Pro)
n.414+14521A>G
c.2012T>C (p.Leu671Pro)
c.1646T>C (p.Leu549Pro)
c.1745T>C (p.Leu582Pro)
1g.113829993A>TCA341701833AP4B1-AS1,PTPN22c.2090T>A (p.Leu697His)
c.469-10339T>A (n.469-10339T>A)
c.1709T>A (p.Leu570His)
c.1925T>A (p.Leu642His)
c.*1368T>A (n.*1368T>A)
c.2018T>A (p.Leu673His)
c.2006T>A (p.Leu669His)
n.414+14521A>T
c.2012T>A (p.Leu671His)
c.1646T>A (p.Leu549His)
c.1745T>A (p.Leu582His)
1g.113829994G>ACA341701836AP4B1-AS1,PTPN22c.2089C>T (p.Leu697Phe)
c.469-10340C>T (n.469-10340C>T)
c.1708C>T (p.Leu570Phe)
c.1924C>T (p.Leu642Phe)
c.*1367C>T (n.*1367C>T)
c.2017C>T (p.Leu673Phe)
c.2005C>T (p.Leu669Phe)
n.414+14522G>A
c.2011C>T (p.Leu671Phe)
c.1645C>T (p.Leu549Phe)
c.1744C>T (p.Leu582Phe)
1g.113829994G>CCA341701839AP4B1-AS1,PTPN22c.2089C>G (p.Leu697Val)
c.469-10340C>G (n.469-10340C>G)
c.1708C>G (p.Leu570Val)
c.1924C>G (p.Leu642Val)
c.*1367C>G (n.*1367C>G)
c.2017C>G (p.Leu673Val)
c.2005C>G (p.Leu669Val)
n.414+14522G>C
c.2011C>G (p.Leu671Val)
c.1645C>G (p.Leu549Val)
c.1744C>G (p.Leu582Val)
1g.113829994G>TCA341701838AP4B1-AS1,PTPN22c.2089C>A (p.Leu697Ile)
c.469-10340C>A (n.469-10340C>A)
c.1708C>A (p.Leu570Ile)
c.1924C>A (p.Leu642Ile)
c.*1367C>A (n.*1367C>A)
c.2017C>A (p.Leu673Ile)
c.2005C>A (p.Leu669Ile)
n.414+14522G>T
c.2011C>A (p.Leu671Ile)
c.1645C>A (p.Leu549Ile)
c.1744C>A (p.Leu582Ile)
1g.113829995A>CCA419560066AP4B1-AS1,PTPN22c.2088T>G (p.Pro696=)
c.469-10341T>G (n.469-10341T>G)
c.1707T>G (p.Pro569=)
c.1923T>G (p.Pro641=)
c.*1366T>G (n.*1366T>G)
c.2016T>G (p.Pro672=)
c.2004T>G (p.Pro668=)
n.414+14523A>C
c.2010T>G (p.Pro670=)
c.1644T>G (p.Pro548=)
c.1743T>G (p.Pro581=)
1g.113829995A>GCA419560067AP4B1-AS1,PTPN22c.2088T>C (p.Pro696=)
c.469-10341T>C (n.469-10341T>C)
c.1707T>C (p.Pro569=)
c.1923T>C (p.Pro641=)
c.*1366T>C (n.*1366T>C)
c.2016T>C (p.Pro672=)
c.2004T>C (p.Pro668=)
n.414+14523A>G
c.2010T>C (p.Pro670=)
c.1644T>C (p.Pro548=)
c.1743T>C (p.Pro581=)
1g.113829995A>TCA419560068AP4B1-AS1,PTPN22c.2088T>A (p.Pro696=)
c.469-10341T>A (n.469-10341T>A)
c.1707T>A (p.Pro569=)
c.1923T>A (p.Pro641=)
c.*1366T>A (n.*1366T>A)
c.2016T>A (p.Pro672=)
c.2004T>A (p.Pro668=)
n.414+14523A>T
c.2010T>A (p.Pro670=)
c.1644T>A (p.Pro548=)
c.1743T>A (p.Pro581=)
1g.113829996G>ACA341701842AP4B1-AS1,PTPN22c.2087C>T (p.Pro696Leu)
c.469-10342C>T (n.469-10342C>T)
c.1706C>T (p.Pro569Leu)
c.1922C>T (p.Pro641Leu)
c.*1365C>T (n.*1365C>T)
c.2015C>T (p.Pro672Leu)
c.2003C>T (p.Pro668Leu)
n.414+14524G>A
c.2009C>T (p.Pro670Leu)
c.1643C>T (p.Pro548Leu)
c.1742C>T (p.Pro581Leu)
1g.113829996G>CCA341701844AP4B1-AS1,PTPN22c.2087C>G (p.Pro696Arg)
c.469-10342C>G (n.469-10342C>G)
c.1706C>G (p.Pro569Arg)
c.1922C>G (p.Pro641Arg)
c.*1365C>G (n.*1365C>G)
c.2015C>G (p.Pro672Arg)
c.2003C>G (p.Pro668Arg)
n.414+14524G>C
c.2009C>G (p.Pro670Arg)
c.1643C>G (p.Pro548Arg)
c.1742C>G (p.Pro581Arg)
1g.113829996G>TCA341701847AP4B1-AS1,PTPN22c.2087C>A (p.Pro696His)
c.469-10342C>A (n.469-10342C>A)
c.1706C>A (p.Pro569His)
c.1922C>A (p.Pro641His)
c.*1365C>A (n.*1365C>A)
c.2015C>A (p.Pro672His)
c.2003C>A (p.Pro668His)
n.414+14524G>T
c.2009C>A (p.Pro670His)
c.1643C>A (p.Pro548His)
c.1742C>A (p.Pro581His)
1g.113829997G>ACA341701850AP4B1-AS1,PTPN22c.2086C>T (p.Pro696Ser)
c.469-10343C>T (n.469-10343C>T)
c.1705C>T (p.Pro569Ser)
c.1921C>T (p.Pro641Ser)
c.*1364C>T (n.*1364C>T)
c.2014C>T (p.Pro672Ser)
c.2002C>T (p.Pro668Ser)
n.414+14525G>A
c.2008C>T (p.Pro670Ser)
c.1642C>T (p.Pro548Ser)
c.1741C>T (p.Pro581Ser)
1g.113829997G>CCA341701852AP4B1-AS1,PTPN22c.2086C>G (p.Pro696Ala)
c.469-10343C>G (n.469-10343C>G)
c.1705C>G (p.Pro569Ala)
c.1921C>G (p.Pro641Ala)
c.*1364C>G (n.*1364C>G)
c.2014C>G (p.Pro672Ala)
c.2002C>G (p.Pro668Ala)
n.414+14525G>C
c.2008C>G (p.Pro670Ala)
c.1642C>G (p.Pro548Ala)
c.1741C>G (p.Pro581Ala)
 dbSNP
1g.113829997G=CA1189920258AP4B1-AS1,PTPN22c.2086C= (p.Pro696=)
c.469-10343C= (n.469-10343C=)
c.1705C= (p.Pro569=)
c.1921C= (p.Pro641=)
c.*1364C= (n.*1364C=)
c.2014C= (p.Pro672=)
c.2002C= (p.Pro668=)
n.414+14525G=
c.2008C= (p.Pro670=)
c.1642C= (p.Pro548=)
c.1741C= (p.Pro581=)
1g.113829997G>TCA341701855AP4B1-AS1,PTPN22c.2086C>A (p.Pro696Thr)
c.469-10343C>A (n.469-10343C>A)
c.1705C>A (p.Pro569Thr)
c.1921C>A (p.Pro641Thr)
c.*1364C>A (n.*1364C>A)
c.2014C>A (p.Pro672Thr)
c.2002C>A (p.Pro668Thr)
n.414+14525G>T
c.2008C>A (p.Pro670Thr)
c.1642C>A (p.Pro548Thr)
c.1741C>A (p.Pro581Thr)
1g.113829998A>CCA419560070AP4B1-AS1,PTPN22c.2085T>G (p.Pro695=)
c.469-10344T>G (n.469-10344T>G)
c.1704T>G (p.Pro568=)
c.1920T>G (p.Pro640=)
c.*1363T>G (n.*1363T>G)
c.2013T>G (p.Pro671=)
c.2001T>G (p.Pro667=)
n.414+14526A>C
c.2007T>G (p.Pro669=)
c.1641T>G (p.Pro547=)
c.1740T>G (p.Pro580=)
1g.113829998A>GCA419560071AP4B1-AS1,PTPN22c.2085T>C (p.Pro695=)
c.469-10344T>C (n.469-10344T>C)
c.1704T>C (p.Pro568=)
c.1920T>C (p.Pro640=)
c.*1363T>C (n.*1363T>C)
c.2013T>C (p.Pro671=)
c.2001T>C (p.Pro667=)
n.414+14526A>G
c.2007T>C (p.Pro669=)
c.1641T>C (p.Pro547=)
c.1740T>C (p.Pro580=)
 gnomAD v4
1g.113829998A>TCA419560069AP4B1-AS1,PTPN22c.2085T>A (p.Pro695=)
c.469-10344T>A (n.469-10344T>A)
c.1704T>A (p.Pro568=)
c.1920T>A (p.Pro640=)
c.*1363T>A (n.*1363T>A)
c.2013T>A (p.Pro671=)
c.2001T>A (p.Pro667=)
n.414+14526A>T
c.2007T>A (p.Pro669=)
c.1641T>A (p.Pro547=)
c.1740T>A (p.Pro580=)
1g.113829999G>ACA341701858AP4B1-AS1,PTPN22c.2084C>T (p.Pro695Leu)
c.469-10345C>T (n.469-10345C>T)
c.1703C>T (p.Pro568Leu)
c.1919C>T (p.Pro640Leu)
c.*1362C>T (n.*1362C>T)
c.2012C>T (p.Pro671Leu)
c.2000C>T (p.Pro667Leu)
n.414+14527G>A
c.2006C>T (p.Pro669Leu)
c.1640C>T (p.Pro547Leu)
c.1739C>T (p.Pro580Leu)
 gnomAD v4
1g.113829999G>CCA341701861AP4B1-AS1,PTPN22c.2084C>G (p.Pro695Arg)
c.469-10345C>G (n.469-10345C>G)
c.1703C>G (p.Pro568Arg)
c.1919C>G (p.Pro640Arg)
c.*1362C>G (n.*1362C>G)
c.2012C>G (p.Pro671Arg)
c.2000C>G (p.Pro667Arg)
n.414+14527G>C
c.2006C>G (p.Pro669Arg)
c.1640C>G (p.Pro547Arg)
c.1739C>G (p.Pro580Arg)
1g.113829999G=CA1189920259AP4B1-AS1,PTPN22c.2084C= (p.Pro695=)
c.469-10345C= (n.469-10345C=)
c.1703C= (p.Pro568=)
c.1919C= (p.Pro640=)
c.*1362C= (n.*1362C=)
c.2012C= (p.Pro671=)
c.2000C= (p.Pro667=)
n.414+14527G=
c.2006C= (p.Pro669=)
c.1640C= (p.Pro547=)
c.1739C= (p.Pro580=)
1g.113829999G>TCA341701863AP4B1-AS1,PTPN22c.2084C>A (p.Pro695His)
c.469-10345C>A (n.469-10345C>A)
c.1703C>A (p.Pro568His)
c.1919C>A (p.Pro640His)
c.*1362C>A (n.*1362C>A)
c.2012C>A (p.Pro671His)
c.2000C>A (p.Pro667His)
n.414+14527G>T
c.2006C>A (p.Pro669His)
c.1640C>A (p.Pro547His)
c.1739C>A (p.Pro580His)
 dbSNP gnomAD v4
1g.113830000G>ACA341701868AP4B1-AS1,PTPN22c.2083C>T (p.Pro695Ser)
c.469-10346C>T (n.469-10346C>T)
c.1702C>T (p.Pro568Ser)
c.1918C>T (p.Pro640Ser)
c.*1361C>T (n.*1361C>T)
c.2011C>T (p.Pro671Ser)
c.1999C>T (p.Pro667Ser)
n.414+14528G>A
c.2005C>T (p.Pro669Ser)
c.1639C>T (p.Pro547Ser)
c.1738C>T (p.Pro580Ser)
 dbSNP gnomAD v4
1g.113830000G>CCA341701870AP4B1-AS1,PTPN22c.2083C>G (p.Pro695Ala)
c.469-10346C>G (n.469-10346C>G)
c.1702C>G (p.Pro568Ala)
c.1918C>G (p.Pro640Ala)
c.*1361C>G (n.*1361C>G)
c.2011C>G (p.Pro671Ala)
c.1999C>G (p.Pro667Ala)
n.414+14528G>C
c.2005C>G (p.Pro669Ala)
c.1639C>G (p.Pro547Ala)
c.1738C>G (p.Pro580Ala)
1g.113830000G=CA1189920260AP4B1-AS1,PTPN22c.2083C= (p.Pro695=)
c.469-10346C= (n.469-10346C=)
c.1702C= (p.Pro568=)
c.1918C= (p.Pro640=)
c.*1361C= (n.*1361C=)
c.2011C= (p.Pro671=)
c.1999C= (p.Pro667=)
n.414+14528G=
c.2005C= (p.Pro669=)
c.1639C= (p.Pro547=)
c.1738C= (p.Pro580=)
1g.113830000G>TCA341701866AP4B1-AS1,PTPN22c.2083C>A (p.Pro695Thr)
c.469-10346C>A (n.469-10346C>A)
c.1702C>A (p.Pro568Thr)
c.1918C>A (p.Pro640Thr)
c.*1361C>A (n.*1361C>A)
c.2011C>A (p.Pro671Thr)
c.1999C>A (p.Pro667Thr)
n.414+14528G>T
c.2005C>A (p.Pro669Thr)
c.1639C>A (p.Pro547Thr)
c.1738C>A (p.Pro580Thr)
1g.113830001T>ACA419560072AP4B1-AS1,PTPN22c.2082A>T (p.Pro694=)
c.469-10347A>T (n.469-10347A>T)
c.1701A>T (p.Pro567=)
c.1917A>T (p.Pro639=)
c.*1360A>T (n.*1360A>T)
c.2010A>T (p.Pro670=)
c.1998A>T (p.Pro666=)
n.414+14529T>A
c.2004A>T (p.Pro668=)
c.1638A>T (p.Pro546=)
c.1737A>T (p.Pro579=)
1g.113830001T>CCA419560073AP4B1-AS1,PTPN22c.2082A>G (p.Pro694=)
c.469-10347A>G (n.469-10347A>G)
c.1701A>G (p.Pro567=)
c.1917A>G (p.Pro639=)
c.*1360A>G (n.*1360A>G)
c.2010A>G (p.Pro670=)
c.1998A>G (p.Pro666=)
n.414+14529T>C
c.2004A>G (p.Pro668=)
c.1638A>G (p.Pro546=)
c.1737A>G (p.Pro579=)
1g.113830001T>GCA419560074AP4B1-AS1,PTPN22c.2082A>C (p.Pro694=)
c.469-10347A>C (n.469-10347A>C)
c.1701A>C (p.Pro567=)
c.1917A>C (p.Pro639=)
c.*1360A>C (n.*1360A>C)
c.2010A>C (p.Pro670=)
c.1998A>C (p.Pro666=)
n.414+14529T>G
c.2004A>C (p.Pro668=)
c.1638A>C (p.Pro546=)
c.1737A>C (p.Pro579=)
1g.113830001T=CA1189920261AP4B1-AS1,PTPN22c.2082A= (p.Pro694=)
c.469-10347A= (n.469-10347A=)
c.1701A= (p.Pro567=)
c.1917A= (p.Pro639=)
c.*1360A= (n.*1360A=)
c.2010A= (p.Pro670=)
c.1998A= (p.Pro666=)
n.414+14529T=
c.2004A= (p.Pro668=)
c.1638A= (p.Pro546=)
c.1737A= (p.Pro579=)
1g.113830002G>ACA1014830AP4B1-AS1,PTPN22c.2081C>T (p.Pro694Leu)
c.469-10348C>T (n.469-10348C>T)
c.1700C>T (p.Pro567Leu)
c.1916C>T (p.Pro639Leu)
c.*1359C>T (n.*1359C>T)
c.2009C>T (p.Pro670Leu)
c.1997C>T (p.Pro666Leu)
n.414+14530G>A
c.2003C>T (p.Pro668Leu)
c.1637C>T (p.Pro546Leu)
c.1736C>T (p.Pro579Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.113830002G>CCA341701876AP4B1-AS1,PTPN22c.2081C>G (p.Pro694Arg)
c.469-10348C>G (n.469-10348C>G)
c.1700C>G (p.Pro567Arg)
c.1916C>G (p.Pro639Arg)
c.*1359C>G (n.*1359C>G)
c.2009C>G (p.Pro670Arg)
c.1997C>G (p.Pro666Arg)
n.414+14530G>C
c.2003C>G (p.Pro668Arg)
c.1637C>G (p.Pro546Arg)
c.1736C>G (p.Pro579Arg)
 ClinVar gnomAD v4
1g.113830002G=CA1142165694AP4B1-AS1,PTPN22c.2081C= (p.Pro694=)
c.469-10348C= (n.469-10348C=)
c.1700C= (p.Pro567=)
c.1916C= (p.Pro639=)
c.*1359C= (n.*1359C=)
c.2009C= (p.Pro670=)
c.1997C= (p.Pro666=)
n.414+14530G=
c.2003C= (p.Pro668=)
c.1637C= (p.Pro546=)
c.1736C= (p.Pro579=)
1g.113830002G>TCA341701879AP4B1-AS1,PTPN22c.2081C>A (p.Pro694Gln)
c.469-10348C>A (n.469-10348C>A)
c.1700C>A (p.Pro567Gln)
c.1916C>A (p.Pro639Gln)
c.*1359C>A (n.*1359C>A)
c.2009C>A (p.Pro670Gln)
c.1997C>A (p.Pro666Gln)
n.414+14530G>T
c.2003C>A (p.Pro668Gln)
c.1637C>A (p.Pro546Gln)
c.1736C>A (p.Pro579Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.113830004_113830006dupCA1014829AP4B1-AS1,PTPN22c.2079_2081dup (p.Pro694_Pro695insPro)
c.469-10350_469-10348dup (n.469-10350_469-10348dup)
c.1698_1700dup (p.Pro567_Pro568insPro)
c.1914_1916dup (p.Pro639_Pro640insPro)
c.*1357_*1359dup (n.*1357_*1359dup)
c.2007_2009dup (p.Pro670_Pro671insPro)
c.1995_1997dup (p.Pro666_Pro667insPro)
n.414+14532_414+14534dup
c.2001_2003dup (p.Pro668_Pro669insPro)
c.1635_1637dup (p.Pro546_Pro547insPro)
c.1734_1736dup (p.Pro579_Pro580insPro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.113830003G>ACA341701882AP4B1-AS1,PTPN22c.2080C>T (p.Pro694Ser)
c.469-10349C>T (n.469-10349C>T)
c.1699C>T (p.Pro567Ser)
c.1915C>T (p.Pro639Ser)
c.*1358C>T (n.*1358C>T)
c.2008C>T (p.Pro670Ser)
c.1996C>T (p.Pro666Ser)
n.414+14531G>A
c.2002C>T (p.Pro668Ser)
c.1636C>T (p.Pro546Ser)
c.1735C>T (p.Pro579Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.113830003G>CCA341701884AP4B1-AS1,PTPN22c.2080C>G (p.Pro694Ala)
c.469-10349C>G (n.469-10349C>G)
c.1699C>G (p.Pro567Ala)
c.1915C>G (p.Pro639Ala)
c.*1358C>G (n.*1358C>G)
c.2008C>G (p.Pro670Ala)
c.1996C>G (p.Pro666Ala)
n.414+14531G>C
c.2002C>G (p.Pro668Ala)
c.1636C>G (p.Pro546Ala)
c.1735C>G (p.Pro579Ala)
1g.113830003G=CA1189920262AP4B1-AS1,PTPN22c.2080C= (p.Pro694=)
c.469-10349C= (n.469-10349C=)
c.1699C= (p.Pro567=)
c.1915C= (p.Pro639=)
c.*1358C= (n.*1358C=)
c.2008C= (p.Pro670=)
c.1996C= (p.Pro666=)
n.414+14531G=
c.2002C= (p.Pro668=)
c.1636C= (p.Pro546=)
c.1735C= (p.Pro579=)
1g.113830003G>TCA341701885AP4B1-AS1,PTPN22c.2080C>A (p.Pro694Thr)
c.469-10349C>A (n.469-10349C>A)
c.1699C>A (p.Pro567Thr)
c.1915C>A (p.Pro639Thr)
c.*1358C>A (n.*1358C>A)
c.2008C>A (p.Pro670Thr)
c.1996C>A (p.Pro666Thr)
n.414+14531G>T
c.2002C>A (p.Pro668Thr)
c.1636C>A (p.Pro546Thr)
c.1735C>A (p.Pro579Thr)
 gnomAD v4
1g.113830004G>ACA419560075AP4B1-AS1,PTPN22c.2079C>T (p.Pro693=)
c.469-10350C>T (n.469-10350C>T)
c.1698C>T (p.Pro566=)
c.1914C>T (p.Pro638=)
c.*1357C>T (n.*1357C>T)
c.2007C>T (p.Pro669=)
c.1995C>T (p.Pro665=)
n.414+14532G>A
c.2001C>T (p.Pro667=)
c.1635C>T (p.Pro545=)
c.1734C>T (p.Pro578=)
 gnomAD v4
1g.113830004G>CCA28977219AP4B1-AS1,PTPN22c.2079C>G (p.Pro693=)
c.469-10350C>G (n.469-10350C>G)
c.1698C>G (p.Pro566=)
c.1914C>G (p.Pro638=)
c.*1357C>G (n.*1357C>G)
c.2007C>G (p.Pro669=)
c.1995C>G (p.Pro665=)
n.414+14532G>C
c.2001C>G (p.Pro667=)
c.1635C>G (p.Pro545=)
c.1734C>G (p.Pro578=)
 dbSNP
1g.113830004G=CA1189920263AP4B1-AS1,PTPN22c.2079C= (p.Pro693=)
c.469-10350C= (n.469-10350C=)
c.1698C= (p.Pro566=)
c.1914C= (p.Pro638=)
c.*1357C= (n.*1357C=)
c.2007C= (p.Pro669=)
c.1995C= (p.Pro665=)
n.414+14532G=
c.2001C= (p.Pro667=)
c.1635C= (p.Pro545=)
c.1734C= (p.Pro578=)
1g.113830004G>TCA419560076AP4B1-AS1,PTPN22c.2079C>A (p.Pro693=)
c.469-10350C>A (n.469-10350C>A)
c.1698C>A (p.Pro566=)
c.1914C>A (p.Pro638=)
c.*1357C>A (n.*1357C>A)
c.2007C>A (p.Pro669=)
c.1995C>A (p.Pro665=)
n.414+14532G>T
c.2001C>A (p.Pro667=)
c.1635C>A (p.Pro545=)
c.1734C>A (p.Pro578=)
 dbSNP
1g.113830005G>ACA1014831AP4B1-AS1,PTPN22c.2078C>T (p.Pro693Leu)
c.469-10351C>T (n.469-10351C>T)
c.1697C>T (p.Pro566Leu)
c.1913C>T (p.Pro638Leu)
c.*1356C>T (n.*1356C>T)
c.2006C>T (p.Pro669Leu)
c.1994C>T (p.Pro665Leu)
n.414+14533G>A
c.2000C>T (p.Pro667Leu)
c.1634C>T (p.Pro545Leu)
c.1733C>T (p.Pro578Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.113830005G>CCA341701889AP4B1-AS1,PTPN22c.2078C>G (p.Pro693Arg)
c.469-10351C>G (n.469-10351C>G)
c.1697C>G (p.Pro566Arg)
c.1913C>G (p.Pro638Arg)
c.*1356C>G (n.*1356C>G)
c.2006C>G (p.Pro669Arg)
c.1994C>G (p.Pro665Arg)
n.414+14533G>C
c.2000C>G (p.Pro667Arg)
c.1634C>G (p.Pro545Arg)
c.1733C>G (p.Pro578Arg)
1g.113830005G=CA1189920264AP4B1-AS1,PTPN22c.2078C= (p.Pro693=)
c.469-10351C= (n.469-10351C=)
c.1697C= (p.Pro566=)
c.1913C= (p.Pro638=)
c.*1356C= (n.*1356C=)
c.2006C= (p.Pro669=)
c.1994C= (p.Pro665=)
n.414+14533G=
c.2000C= (p.Pro667=)
c.1634C= (p.Pro545=)
c.1733C= (p.Pro578=)
1g.113830005G>TCA341701891AP4B1-AS1,PTPN22c.2078C>A (p.Pro693His)
c.469-10351C>A (n.469-10351C>A)
c.1697C>A (p.Pro566His)
c.1913C>A (p.Pro638His)
c.*1356C>A (n.*1356C>A)
c.2006C>A (p.Pro669His)
c.1994C>A (p.Pro665His)
n.414+14533G>T
c.2000C>A (p.Pro667His)
c.1634C>A (p.Pro545His)
c.1733C>A (p.Pro578His)
1g.113830006G>ACA341701894AP4B1-AS1,PTPN22c.2077C>T (p.Pro693Ser)
c.469-10352C>T (n.469-10352C>T)
c.1696C>T (p.Pro566Ser)
c.1912C>T (p.Pro638Ser)
c.*1355C>T (n.*1355C>T)
c.2005C>T (p.Pro669Ser)
c.1993C>T (p.Pro665Ser)
n.414+14534G>A
c.1999C>T (p.Pro667Ser)
c.1633C>T (p.Pro545Ser)
c.1732C>T (p.Pro578Ser)
 dbSNP gnomAD v4 COSMIC
1g.113830006G>CCA341701895AP4B1-AS1,PTPN22c.2077C>G (p.Pro693Ala)
c.469-10352C>G (n.469-10352C>G)
c.1696C>G (p.Pro566Ala)
c.1912C>G (p.Pro638Ala)
c.*1355C>G (n.*1355C>G)
c.2005C>G (p.Pro669Ala)
c.1993C>G (p.Pro665Ala)
n.414+14534G>C
c.1999C>G (p.Pro667Ala)
c.1633C>G (p.Pro545Ala)
c.1732C>G (p.Pro578Ala)
1g.113830006G=CA1189920265AP4B1-AS1,PTPN22c.2077C= (p.Pro693=)
c.469-10352C= (n.469-10352C=)
c.1696C= (p.Pro566=)
c.1912C= (p.Pro638=)
c.*1355C= (n.*1355C=)
c.2005C= (p.Pro669=)
c.1993C= (p.Pro665=)
n.414+14534G=
c.1999C= (p.Pro667=)
c.1633C= (p.Pro545=)
c.1732C= (p.Pro578=)
1g.113830006G>TCA1014832AP4B1-AS1,PTPN22c.2077C>A (p.Pro693Thr)
c.469-10352C>A (n.469-10352C>A)
c.1696C>A (p.Pro566Thr)
c.1912C>A (p.Pro638Thr)
c.*1355C>A (n.*1355C>A)
c.2005C>A (p.Pro669Thr)
c.1993C>A (p.Pro665Thr)
n.414+14534G>T
c.1999C>A (p.Pro667Thr)
c.1633C>A (p.Pro545Thr)
c.1732C>A (p.Pro578Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.113830007A>CCA419560077AP4B1-AS1,PTPN22c.2076T>G (p.Ser692=)
c.469-10353T>G (n.469-10353T>G)
c.1695T>G (p.Ser565=)
c.1911T>G (p.Ser637=)
c.*1354T>G (n.*1354T>G)
c.2004T>G (p.Ser668=)
c.1992T>G (p.Ser664=)
n.414+14535A>C
c.1998T>G (p.Ser666=)
c.1632T>G (p.Ser544=)
c.1731T>G (p.Ser577=)
1g.113830007A>GCA419560078AP4B1-AS1,PTPN22c.2076T>C (p.Ser692=)
c.469-10353T>C (n.469-10353T>C)
c.1695T>C (p.Ser565=)
c.1911T>C (p.Ser637=)
c.*1354T>C (n.*1354T>C)
c.2004T>C (p.Ser668=)
c.1992T>C (p.Ser664=)
n.414+14535A>G
c.1998T>C (p.Ser666=)
c.1632T>C (p.Ser544=)
c.1731T>C (p.Ser577=)
1g.113830007A>TCA419560079AP4B1-AS1,PTPN22c.2076T>A (p.Ser692=)
c.469-10353T>A (n.469-10353T>A)
c.1695T>A (p.Ser565=)
c.1911T>A (p.Ser637=)
c.*1354T>A (n.*1354T>A)
c.2004T>A (p.Ser668=)
c.1992T>A (p.Ser664=)
n.414+14535A>T
c.1998T>A (p.Ser666=)
c.1632T>A (p.Ser544=)
c.1731T>A (p.Ser577=)
1g.113830011_113830013delCA2647206865AP4B1-AS1,PTPN22c.2074_2076del (p.Ser692del)
c.469-10355_469-10353del (n.469-10355_469-10353del)
c.1693_1695del (p.Ser565del)
c.1909_1911del (p.Ser637del)
c.*1352_*1354del (n.*1352_*1354del)
c.2002_2004del (p.Ser668del)
c.1990_1992del (p.Ser664del)
n.414+14539_414+14541del
c.1996_1998del (p.Ser666del)
c.1630_1632del (p.Ser544del)
c.1729_1731del (p.Ser577del)
 gnomAD v4
1g.113830008G>ACA1014834AP4B1-AS1,PTPN22c.2075C>T (p.Ser692Phe)
c.469-10354C>T (n.469-10354C>T)
c.1694C>T (p.Ser565Phe)
c.1910C>T (p.Ser637Phe)
c.*1353C>T (n.*1353C>T)
c.2003C>T (p.Ser668Phe)
c.1991C>T (p.Ser664Phe)
n.414+14536G>A
c.1997C>T (p.Ser666Phe)
c.1631C>T (p.Ser544Phe)
c.1730C>T (p.Ser577Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.113830008G>CCA1014833AP4B1-AS1,PTPN22c.2075C>G (p.Ser692Cys)
c.469-10354C>G (n.469-10354C>G)
c.1694C>G (p.Ser565Cys)
c.1910C>G (p.Ser637Cys)
c.*1353C>G (n.*1353C>G)
c.2003C>G (p.Ser668Cys)
c.1991C>G (p.Ser664Cys)
n.414+14536G>C
c.1997C>G (p.Ser666Cys)
c.1631C>G (p.Ser544Cys)
c.1730C>G (p.Ser577Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.113830008G=CA1142603858AP4B1-AS1,PTPN22c.2075C= (p.Ser692=)
c.469-10354C= (n.469-10354C=)
c.1694C= (p.Ser565=)
c.1910C= (p.Ser637=)
c.*1353C= (n.*1353C=)
c.2003C= (p.Ser668=)
c.1991C= (p.Ser664=)
n.414+14536G=
c.1997C= (p.Ser666=)
c.1631C= (p.Ser544=)
c.1730C= (p.Ser577=)
1g.113830008G>TCA341701900AP4B1-AS1,PTPN22c.2075C>A (p.Ser692Tyr)
c.469-10354C>A (n.469-10354C>A)
c.1694C>A (p.Ser565Tyr)
c.1910C>A (p.Ser637Tyr)
c.*1353C>A (n.*1353C>A)
c.2003C>A (p.Ser668Tyr)
c.1991C>A (p.Ser664Tyr)
n.414+14536G>T
c.1997C>A (p.Ser666Tyr)
c.1631C>A (p.Ser544Tyr)
c.1730C>A (p.Ser577Tyr)
1g.113830009A>CCA341701906AP4B1-AS1,PTPN22c.2074T>G (p.Ser692Ala)
c.469-10355T>G (n.469-10355T>G)
c.1693T>G (p.Ser565Ala)
c.1909T>G (p.Ser637Ala)
c.*1352T>G (n.*1352T>G)
c.2002T>G (p.Ser668Ala)
c.1990T>G (p.Ser664Ala)
n.414+14537A>C
c.1996T>G (p.Ser666Ala)
c.1630T>G (p.Ser544Ala)
c.1729T>G (p.Ser577Ala)
 gnomAD v4
1g.113830009A>GCA341701908AP4B1-AS1,PTPN22c.2074T>C (p.Ser692Pro)
c.469-10355T>C (n.469-10355T>C)
c.1693T>C (p.Ser565Pro)
c.1909T>C (p.Ser637Pro)
c.*1352T>C (n.*1352T>C)
c.2002T>C (p.Ser668Pro)
c.1990T>C (p.Ser664Pro)
n.414+14537A>G
c.1996T>C (p.Ser666Pro)
c.1630T>C (p.Ser544Pro)
c.1729T>C (p.Ser577Pro)
 gnomAD v4
1g.113830009A>TCA341701911AP4B1-AS1,PTPN22c.2074T>A (p.Ser692Thr)
c.469-10355T>A (n.469-10355T>A)
c.1693T>A (p.Ser565Thr)
c.1909T>A (p.Ser637Thr)
c.*1352T>A (n.*1352T>A)
c.2002T>A (p.Ser668Thr)
c.1990T>A (p.Ser664Thr)
n.414+14537A>T
c.1996T>A (p.Ser666Thr)
c.1630T>A (p.Ser544Thr)
c.1729T>A (p.Ser577Thr)
1g.113830010A=CA1189920266AP4B1-AS1,PTPN22c.2073T= (p.Ser691=)
c.469-10356T= (n.469-10356T=)
c.1692T= (p.Ser564=)
c.1908T= (p.Ser636=)
c.*1351T= (n.*1351T=)
c.2001T= (p.Ser667=)
c.1989T= (p.Ser663=)
n.414+14538A=
c.1995T= (p.Ser665=)
c.1629T= (p.Ser543=)
c.1728T= (p.Ser576=)
1g.113830010A>CCA419560080AP4B1-AS1,PTPN22c.2073T>G (p.Ser691=)
c.469-10356T>G (n.469-10356T>G)
c.1692T>G (p.Ser564=)
c.1908T>G (p.Ser636=)
c.*1351T>G (n.*1351T>G)
c.2001T>G (p.Ser667=)
c.1989T>G (p.Ser663=)
n.414+14538A>C
c.1995T>G (p.Ser665=)
c.1629T>G (p.Ser543=)
c.1728T>G (p.Ser576=)
 dbSNP gnomAD v2 gnomAD v4
1g.113830010A>GCA419560081AP4B1-AS1,PTPN22c.2073T>C (p.Ser691=)
c.469-10356T>C (n.469-10356T>C)
c.1692T>C (p.Ser564=)
c.1908T>C (p.Ser636=)
c.*1351T>C (n.*1351T>C)
c.2001T>C (p.Ser667=)
c.1989T>C (p.Ser663=)
n.414+14538A>G
c.1995T>C (p.Ser665=)
c.1629T>C (p.Ser543=)
c.1728T>C (p.Ser576=)
1g.113830010A>TCA419560083AP4B1-AS1,PTPN22c.2073T>A (p.Ser691=)
c.469-10356T>A (n.469-10356T>A)
c.1692T>A (p.Ser564=)
c.1908T>A (p.Ser636=)
c.*1351T>A (n.*1351T>A)
c.2001T>A (p.Ser667=)
c.1989T>A (p.Ser663=)
n.414+14538A>T
c.1995T>A (p.Ser665=)
c.1629T>A (p.Ser543=)
c.1728T>A (p.Ser576=)

Number of alleles fetched