UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112450385G>A | CA354979 | PTPN11 | c.205G>A (p.Glu69Lys) c.202G>A (p.Glu68Lys) | ClinVar dbSNP COSMIC |
| 12 | g.112450385G>C | CA261565 | PTPN11 | c.205G>C (p.Glu69Gln) c.202G>C (p.Glu68Gln) | ClinVar dbSNP ExAC COSMIC |
| 12 | g.112450385G= | CA2063740146 | PTPN11 | c.205G= (p.Glu69=) c.202G= (p.Glu68=) | |
| 12 | g.112450385G>T | CA386777753 | PTPN11 | c.205G>T (p.Glu69Ter) c.202G>T (p.Glu68Ter) | |
| 12 | g.112450386A= | CA2063740153 | PTPN11 | c.206A= (p.Glu69=) c.203A= (p.Glu68=) | |
| 12 | g.112450386A>C | CA386777758 | PTPN11 | c.206A>C (p.Glu69Ala) c.203A>C (p.Glu68Ala) | ClinVar |
| 12 | g.112450386A>G | CA386777771 | PTPN11 | c.206A>G (p.Glu69Gly) c.203A>G (p.Glu68Gly) | dbSNP |
| 12 | g.112450386A>T | CA177668 | PTPN11 | c.206A>T (p.Glu69Val) c.203A>T (p.Glu68Val) | ClinVar dbSNP COSMIC |
| 12 | g.112450387G>A | CA481881785 | PTPN11 | c.207G>A (p.Glu69=) c.204G>A (p.Glu68=) | dbSNP |
| 12 | g.112450387G>C | CA386777775 | PTPN11 | c.207G>C (p.Glu69Asp) c.204G>C (p.Glu68Asp) | dbSNP |
| 12 | g.112450387G>T | CA386777778 | PTPN11 | c.207G>T (p.Glu69Asp) c.204G>T (p.Glu68Asp) | dbSNP |
| 12 | g.112450388A>C | CA386777781 | PTPN11 | c.208A>C (p.Lys70Gln) c.205A>C (p.Lys69Gln) | |
| 12 | g.112450388A>G | CA386777784 | PTPN11 | c.208A>G (p.Lys70Glu) c.205A>G (p.Lys69Glu) | |
| 12 | g.112450388A>T | CA386777786 | PTPN11 | c.208A>T (p.Lys70Ter) c.205A>T (p.Lys69Ter) | COSMIC |
| 12 | g.112450389A= | CA2063740160 | PTPN11 | c.209A= (p.Lys70=) c.206A= (p.Lys69=) | |
| 12 | g.112450389A>C | CA386777791 | PTPN11 | c.209A>C (p.Lys70Thr) c.206A>C (p.Lys69Thr) | |
| 12 | g.112450389A>G | CA261568 | PTPN11 | c.209A>G (p.Lys70Arg) c.206A>G (p.Lys69Arg) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450389A>T | CA386777795 | PTPN11 | c.209A>T (p.Lys70Ile) c.206A>T (p.Lys69Ile) | |
| 12 | g.112450390A>C | CA386777799 | PTPN11 | c.210A>C (p.Lys70Asn) c.207A>C (p.Lys69Asn) | |
| 12 | g.112450390A>G | CA481881787 | PTPN11 | c.210A>G (p.Lys70=) c.207A>G (p.Lys69=) | ClinVar |
| 12 | g.112450390A>T | CA386777801 | PTPN11 | c.210A>T (p.Lys70Asn) c.207A>T (p.Lys69Asn) | dbSNP |
| 12 | g.112450391T>A | CA386777804 | PTPN11 | c.211T>A (p.Phe71Ile) c.208T>A (p.Phe70Ile) | dbSNP |
| 12 | g.112450391T>C | CA273215 | PTPN11 | c.211T>C (p.Phe71Leu) c.208T>C (p.Phe70Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.112450391T>G | CA297073 | PTPN11 | c.211T>G (p.Phe71Val) c.208T>G (p.Phe70Val) | ClinVar dbSNP |
| 12 | g.112450391T= | CA2063740165 | PTPN11 | c.211T= (p.Phe71=) c.208T= (p.Phe70=) | |
| 12 | g.112450391_112450393delinsAAA | CA645580457 | PTPN11 | c.211_213delinsAAA (p.Phe71Lys) c.208_210delinsAAA (p.Phe70Lys) | COSMIC |
| 12 | g.112450392T>A | CA386777826 | PTPN11 | c.212T>A (p.Phe71Tyr) c.209T>A (p.Phe70Tyr) | dbSNP |
| 12 | g.112450392T>C | CA386777828 | PTPN11 | c.212T>C (p.Phe71Ser) c.209T>C (p.Phe70Ser) | |
| 12 | g.112450392T>G | CA6798531 | PTPN11 | c.212T>G (p.Phe71Cys) c.209T>G (p.Phe70Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112450392T= | CA2063740170 | PTPN11 | c.212T= (p.Phe71=) c.209T= (p.Phe70=) | |
| 12 | g.112450393T>A | CA386777846 | PTPN11 | c.213T>A (p.Phe71Leu) c.210T>A (p.Phe70Leu) | ClinVar dbSNP COSMIC |
| 12 | g.112450393T>C | CA481881789 | PTPN11 | c.213T>C (p.Phe71=) c.210T>C (p.Phe70=) | dbSNP |
| 12 | g.112450393T>G | CA386777847 | PTPN11 | c.213T>G (p.Phe71Leu) c.210T>G (p.Phe70Leu) | ClinVar dbSNP COSMIC |
| 12 | g.112450393T= | CA2063740176 | PTPN11 | c.213T= (p.Phe71=) c.210T= (p.Phe70=) | |
| 12 | g.112450394G>A | CA180706 | PTPN11 | c.214G>A (p.Ala72Thr) c.211G>A (p.Ala71Thr) | ClinVar dbSNP COSMIC |
| 12 | g.112450394G>C | CA261571 | PTPN11 | c.214G>C (p.Ala72Pro) c.211G>C (p.Ala71Pro) | ClinVar dbSNP |
| 12 | g.112450394G= | CA2063740190 | PTPN11 | c.214G= (p.Ala72=) c.211G= (p.Ala71=) | |
| 12 | g.112450394G>T | CA256749 | PTPN11 | c.214G>T (p.Ala72Ser) c.211G>T (p.Ala71Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.112450395C>A | CA16602941 | PTPN11 | c.215C>A (p.Ala72Asp) c.212C>A (p.Ala71Asp) | ClinVar dbSNP COSMIC |
| 12 | g.112450395C= | CA2063740202 | PTPN11 | c.215C= (p.Ala72=) c.212C= (p.Ala71=) | |
| 12 | g.112450395C>G | CA235319 | PTPN11 | c.215C>G (p.Ala72Gly) c.212C>G (p.Ala71Gly) | ClinVar dbSNP COSMIC |
| 12 | g.112450395C>T | CA215451 | PTPN11 | c.215C>T (p.Ala72Val) c.212C>T (p.Ala71Val) | ClinVar dbSNP COSMIC |
| 12 | g.112450395_112450396delinsTT | CA645580458 | PTPN11 | c.215_216delinsTT (p.Ala72Val) c.212_213delinsTT (p.Ala71Val) | COSMIC |
| 12 | g.112450396C>A | CA481881792 | PTPN11 | c.216C>A (p.Ala72=) c.213C>A (p.Ala71=) | |
| 12 | g.112450396C= | CA2063740207 | PTPN11 | c.216C= (p.Ala72=) c.213C= (p.Ala71=) | |
| 12 | g.112450396C>G | CA481881793 | PTPN11 | c.216C>G (p.Ala72=) c.213C>G (p.Ala71=) | |
| 12 | g.112450396C>T | CA6798532 | PTPN11 | c.216C>T (p.Ala72=) c.213C>T (p.Ala71=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112450397A= | CA2063740214 | PTPN11 | c.217A= (p.Thr73=) c.214A= (p.Thr72=) | |
| 12 | g.112450397A>C | CA282079 | PTPN11 | c.217A>C (p.Thr73Pro) c.214A>C (p.Thr72Pro) | ClinVar dbSNP |
| 12 | g.112450397A>G | CA386777857 | PTPN11 | c.217A>G (p.Thr73Ala) c.214A>G (p.Thr72Ala) | ClinVar gnomAD v4 |
| 12 | g.112450397A>T | CA386777860 | PTPN11 | c.217A>T (p.Thr73Ser) c.214A>T (p.Thr72Ser) | dbSNP |
| 12 | g.112450397_112450398delinsAC | CA2063740226 | PTPN11 | c.217_218delinsAC (p.Thr73=) c.214_215delinsAC (p.Thr72=) | |
| 12 | g.112450397_112450398delinsCT | CA261574 | PTPN11 | c.217_218delinsCT (p.Thr73Leu) c.214_215delinsCT (p.Thr72Leu) | ClinVar dbSNP |
| 12 | g.112450398C>A | CA386777862 | PTPN11 | c.218C>A (p.Thr73Asn) c.215C>A (p.Thr72Asn) | dbSNP |
| 12 | g.112450398C= | CA2063740240 | PTPN11 | c.218C= (p.Thr73=) c.215C= (p.Thr72=) | |
| 12 | g.112450398C>G | CA386777865 | PTPN11 | c.218C>G (p.Thr73Ser) c.215C>G (p.Thr72Ser) | dbSNP |
| 12 | g.112450398C>T | CA256752 | PTPN11 | c.218C>T (p.Thr73Ile) c.215C>T (p.Thr72Ile) | ClinVar dbSNP COSMIC |
| 12 | g.112450399T>A | CA481881797 | PTPN11 | c.219T>A (p.Thr73=) c.216T>A (p.Thr72=) | dbSNP |
| 12 | g.112450399T>C | CA481881798 | PTPN11 | c.219T>C (p.Thr73=) c.216T>C (p.Thr72=) | |
| 12 | g.112450399T>G | CA481881799 | PTPN11 | c.219T>G (p.Thr73=) c.216T>G (p.Thr72=) | |
| 12 | g.112450400_112450401dup | CA2573148013 | PTPN11 | c.220_221dup (p.Leu74PhefsTer16) c.217_218dup (p.Leu73PhefsTer16) | ClinVar dbSNP |
| 12 | g.112450400T>A | CA386777866 | PTPN11 | c.220T>A (p.Leu74Met) c.217T>A (p.Leu73Met) | COSMIC |
| 12 | g.112450400T>C | CA481881800 | PTPN11 | c.220T>C (p.Leu74=) c.217T>C (p.Leu73=) | |
| 12 | g.112450400T>G | CA386777868 | PTPN11 | c.220T>G (p.Leu74Val) c.217T>G (p.Leu73Val) | dbSNP |
| 12 | g.112450400T= | CA2063740245 | PTPN11 | c.220T= (p.Leu74=) c.217T= (p.Leu73=) | |
| 12 | g.112450401T>A | CA386777871 | PTPN11 | c.221T>A (p.Leu74Ter) c.218T>A (p.Leu73Ter) | |
| 12 | g.112450401T>C | CA386777873 | PTPN11 | c.221T>C (p.Leu74Ser) c.218T>C (p.Leu73Ser) | |
| 12 | g.112450401T>G | CA386777874 | PTPN11 | c.221T>G (p.Leu74Trp) c.218T>G (p.Leu73Trp) | |
| 12 | g.112450402G>A | CA481881801 | PTPN11 | c.222G>A (p.Leu74=) c.219G>A (p.Leu73=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112450402G>C | CA386777877 | PTPN11 | c.222G>C (p.Leu74Phe) c.219G>C (p.Leu73Phe) | dbSNP COSMIC |
| 12 | g.112450402G= | CA2063740253 | PTPN11 | c.222G= (p.Leu74=) c.219G= (p.Leu73=) | |
| 12 | g.112450402G>T | CA386777879 | PTPN11 | c.222G>T (p.Leu74Phe) c.219G>T (p.Leu73Phe) | dbSNP |
| 12 | g.112450403del | CA645580459 | PTPN11 | c.223del (p.Ala75LeufsTer14) c.220del (p.Ala74LeufsTer14) | COSMIC |
| 12 | g.112450403G>A | CA386777881 | PTPN11 | c.223G>A (p.Ala75Thr) c.220G>A (p.Ala74Thr) | dbSNP |
| 12 | g.112450403G>C | CA386777884 | PTPN11 | c.223G>C (p.Ala75Pro) c.220G>C (p.Ala74Pro) | ClinVar dbSNP |
| 12 | g.112450403G= | CA2063740266 | PTPN11 | c.223G= (p.Ala75=) c.220G= (p.Ala74=) | |
| 12 | g.112450403G>T | CA386777885 | PTPN11 | c.223G>T (p.Ala75Ser) c.220G>T (p.Ala74Ser) | dbSNP |
| 12 | g.112450404C>A | CA386777891 | PTPN11 | c.224C>A (p.Ala75Asp) c.221C>A (p.Ala74Asp) | dbSNP |
| 12 | g.112450404C= | CA2063740272 | PTPN11 | c.224C= (p.Ala75=) c.221C= (p.Ala74=) | |
| 12 | g.112450404C>G | CA386777886 | PTPN11 | c.224C>G (p.Ala75Gly) c.221C>G (p.Ala74Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112450404C>T | CA386777889 | PTPN11 | c.224C>T (p.Ala75Val) c.221C>T (p.Ala74Val) | dbSNP |
| 12 | g.112450405T>A | CA481881805 | PTPN11 | c.225T>A (p.Ala75=) c.222T>A (p.Ala74=) | dbSNP |
| 12 | g.112450405T>C | CA481881804 | PTPN11 | c.225T>C (p.Ala75=) c.222T>C (p.Ala74=) | dbSNP |
| 12 | g.112450405T>G | CA481881803 | PTPN11 | c.225T>G (p.Ala75=) c.222T>G (p.Ala74=) | |
| 12 | g.112450406G>A | CA123038 | PTPN11 | c.226G>A (p.Glu76Lys) c.223G>A (p.Glu75Lys) | ClinVar dbSNP COSMIC |
| 12 | g.112450406G>C | CA297076 | PTPN11 | c.226G>C (p.Glu76Gln) c.223G>C (p.Glu75Gln) | ClinVar dbSNP COSMIC |
| 12 | g.112450406G= | CA2063740276 | PTPN11 | c.226G= (p.Glu76=) c.223G= (p.Glu75=) | |
| 12 | g.112450406G>T | CA386777894 | PTPN11 | c.226G>T (p.Glu76Ter) c.223G>T (p.Glu75Ter) | |
| 12 | g.112450406_112450407delinsAT | CA645580460 | PTPN11 | c.226_227delinsAT (p.Glu76Met) c.223_224delinsAT (p.Glu75Met) | COSMIC |
| 12 | g.112450407A= | CA2063740301 | PTPN11 | c.227A= (p.Glu76=) c.224A= (p.Glu75=) | |
| 12 | g.112450407A>C | CA123047 | PTPN11 | c.227A>C (p.Glu76Ala) c.224A>C (p.Glu75Ala) | ClinVar dbSNP COSMIC |
| 12 | g.112450407A>G | CA123044 | PTPN11 | c.227A>G (p.Glu76Gly) c.224A>G (p.Glu75Gly) | ClinVar dbSNP COSMIC |
| 12 | g.112450407A>T | CA123041 | PTPN11 | c.227A>T (p.Glu76Val) c.224A>T (p.Glu75Val) | ClinVar dbSNP COSMIC |
| 12 | g.112450408G>A | CA481881807 | PTPN11 | c.228G>A (p.Glu76=) c.225G>A (p.Glu75=) | ClinVar dbSNP |
| 12 | g.112450408G>C | CA261577 | PTPN11 | c.228G>C (p.Glu76Asp) c.225G>C (p.Glu75Asp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450408G= | CA2063740325 | PTPN11 | c.228G= (p.Glu76=) c.225G= (p.Glu75=) | |
| 12 | g.112450408G>T | CA261580 | PTPN11 | c.228G>T (p.Glu76Asp) c.225G>T (p.Glu75Asp) | ClinVar dbSNP |
| 12 | g.112450409T>A | CA386777897 | PTPN11 | c.229T>A (p.Leu77Met) c.226T>A (p.Leu76Met) | dbSNP |
| 12 | g.112450409T>C | CA481881808 | PTPN11 | c.229T>C (p.Leu77=) c.226T>C (p.Leu76=) | dbSNP |
| 12 | g.112450409T>G | CA386777899 | PTPN11 | c.229T>G (p.Leu77Val) c.226T>G (p.Leu76Val) | dbSNP COSMIC |
| 12 | g.112450410T>A | CA386777904 | PTPN11 | c.230T>A (p.Leu77Ter) c.227T>A (p.Leu76Ter) | |
| 12 | g.112450410T>C | CA386777905 | PTPN11 | c.230T>C (p.Leu77Ser) c.227T>C (p.Leu76Ser) | |
| 12 | g.112450410T>G | CA386777901 | PTPN11 | c.230T>G (p.Leu77Trp) c.227T>G (p.Leu76Trp) | |
| 12 | g.112450411G>A | CA481881810 | PTPN11 | c.231G>A (p.Leu77=) c.228G>A (p.Leu76=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450411G>C | CA386777908 | PTPN11 | c.231G>C (p.Leu77Phe) c.228G>C (p.Leu76Phe) | dbSNP |
| 12 | g.112450411G= | CA2063740334 | PTPN11 | c.231G= (p.Leu77=) c.228G= (p.Leu76=) | |
| 12 | g.112450411G>T | CA386777911 | PTPN11 | c.231G>T (p.Leu77Phe) c.228G>T (p.Leu76Phe) | dbSNP |
| 12 | g.112450412del | CA2727232089 | PTPN11 | c.232del (p.Val78SerfsTer11) c.229del (p.Val77SerfsTer11) | dbSNP |
| 12 | g.112450412G>A | CA386777912 | PTPN11 | c.232G>A (p.Val78Ile) c.229G>A (p.Val77Ile) | gnomAD v4 COSMIC |
| 12 | g.112450412G>C | CA386777913 | PTPN11 | c.232G>C (p.Val78Leu) c.229G>C (p.Val77Leu) | |
| 12 | g.112450412G>T | CA386777915 | PTPN11 | c.232G>T (p.Val78Phe) c.229G>T (p.Val77Phe) | |
| 12 | g.112450413T>A | CA386777917 | PTPN11 | c.233T>A (p.Val78Asp) c.230T>A (p.Val77Asp) | |
| 12 | g.112450413T>C | CA386777919 | PTPN11 | c.233T>C (p.Val78Ala) c.230T>C (p.Val77Ala) | |
| 12 | g.112450413T>G | CA386777920 | PTPN11 | c.233T>G (p.Val78Gly) c.230T>G (p.Val77Gly) | |
| 12 | g.112450414C>A | CA481881811 | PTPN11 | c.234C>A (p.Val78=) c.231C>A (p.Val77=) | dbSNP |
| 12 | g.112450414C>G | CA481881812 | PTPN11 | c.234C>G (p.Val78=) c.231C>G (p.Val77=) | dbSNP |
| 12 | g.112450414C>T | CA481881814 | PTPN11 | c.234C>T (p.Val78=) c.231C>T (p.Val77=) | dbSNP |
| 12 | g.112450415C>A | CA261581 | PTPN11 | c.235C>A (p.Gln79Lys) c.232C>A (p.Gln78Lys) | ClinVar dbSNP |
| 12 | g.112450415C= | CA2063740338 | PTPN11 | c.235C= (p.Gln79=) c.232C= (p.Gln78=) | |
| 12 | g.112450415C>G | CA386777921 | PTPN11 | c.235C>G (p.Gln79Glu) c.232C>G (p.Gln78Glu) | dbSNP |
| 12 | g.112450415C>T | CA386777922 | PTPN11 | c.235C>T (p.Gln79Ter) c.232C>T (p.Gln78Ter) | dbSNP |
| 12 | g.112450416A= | CA2063740346 | PTPN11 | c.236A= (p.Gln79=) c.233A= (p.Gln78=) | |
| 12 | g.112450416A>C | CA386777926 | PTPN11 | c.236A>C (p.Gln79Pro) c.233A>C (p.Gln78Pro) | ClinVar gnomAD v4 |
| 12 | g.112450416A>G | CA235322 | PTPN11 | c.236A>G (p.Gln79Arg) c.233A>G (p.Gln78Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.112450416A>T | CA386777923 | PTPN11 | c.236A>T (p.Gln79Leu) c.233A>T (p.Gln78Leu) | dbSNP |
| 12 | g.112450417G>A | CA481881815 | PTPN11 | c.237G>A (p.Gln79=) c.234G>A (p.Gln78=) | dbSNP |
| 12 | g.112450417G>C | CA6798533 | PTPN11 | c.237G>C (p.Gln79His) c.234G>C (p.Gln78His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112450417G= | CA2063740355 | PTPN11 | c.237G= (p.Gln79=) c.234G= (p.Gln78=) | |
| 12 | g.112450417G>T | CA386777930 | PTPN11 | c.237G>T (p.Gln79His) c.234G>T (p.Gln78His) | COSMIC |
| 12 | g.112450418T>A | CA386777931 | PTPN11 | c.238T>A (p.Tyr80Asn) c.235T>A (p.Tyr79Asn) | dbSNP |
| 12 | g.112450418T>C | CA386777932 | PTPN11 | c.238T>C (p.Tyr80His) c.235T>C (p.Tyr79His) | |
| 12 | g.112450418T>G | CA386777933 | PTPN11 | c.238T>G (p.Tyr80Asp) c.235T>G (p.Tyr79Asp) | dbSNP |
| 12 | g.112450419A>C | CA386777934 | PTPN11 | c.239A>C (p.Tyr80Ser) c.236A>C (p.Tyr79Ser) | |
| 12 | g.112450419A>G | CA386777935 | PTPN11 | c.239A>G (p.Tyr80Cys) c.236A>G (p.Tyr79Cys) | |
| 12 | g.112450419A>T | CA386777936 | PTPN11 | c.239A>T (p.Tyr80Phe) c.236A>T (p.Tyr79Phe) | |
| 12 | g.112450420T>A | CA386777938 | PTPN11 | c.240T>A (p.Tyr80Ter) c.237T>A (p.Tyr79Ter) | |
| 12 | g.112450420T>C | CA481881818 | PTPN11 | c.240T>C (p.Tyr80=) c.237T>C (p.Tyr79=) | dbSNP gnomAD v4 |
| 12 | g.112450420T>G | CA386777940 | PTPN11 | c.240T>G (p.Tyr80Ter) c.237T>G (p.Tyr79Ter) | |
| 12 | g.112450421T>A | CA386777941 | PTPN11 | c.241T>A (p.Tyr81Asn) c.238T>A (p.Tyr80Asn) | dbSNP |
| 12 | g.112450421T>C | CA386777943 | PTPN11 | c.241T>C (p.Tyr81His) c.238T>C (p.Tyr80His) | |
| 12 | g.112450421T>G | CA386777945 | PTPN11 | c.241T>G (p.Tyr81Asp) c.238T>G (p.Tyr80Asp) | dbSNP |
| 12 | g.112450422A>C | CA386777948 | PTPN11 | c.242A>C (p.Tyr81Ser) c.239A>C (p.Tyr80Ser) | |
| 12 | g.112450422A>G | CA386777951 | PTPN11 | c.242A>G (p.Tyr81Cys) c.239A>G (p.Tyr80Cys) | dbSNP |
| 12 | g.112450422A>T | CA386777947 | PTPN11 | c.242A>T (p.Tyr81Phe) c.239A>T (p.Tyr80Phe) | dbSNP |
| 12 | g.112450423C>A | CA386777954 | PTPN11 | c.243C>A (p.Tyr81Ter) c.240C>A (p.Tyr80Ter) | dbSNP |
| 12 | g.112450423C>G | CA386777952 | PTPN11 | c.243C>G (p.Tyr81Ter) c.240C>G (p.Tyr80Ter) | dbSNP |
| 12 | g.112450423C>T | CA481881821 | PTPN11 | c.243C>T (p.Tyr81=) c.240C>T (p.Tyr80=) | dbSNP |
| 12 | g.112450424A= | CA2063740362 | PTPN11 | c.244A= (p.Met82=) c.241A= (p.Met81=) | |
| 12 | g.112450424A>C | CA386777957 | PTPN11 | c.244A>C (p.Met82Leu) c.241A>C (p.Met81Leu) | |
| 12 | g.112450424A>G | CA243279 | PTPN11 | c.244A>G (p.Met82Val) c.241A>G (p.Met81Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.112450424A>T | CA386777959 | PTPN11 | c.244A>T (p.Met82Leu) c.241A>T (p.Met81Leu) | dbSNP |
| 12 | g.112450425T>A | CA386777961 | PTPN11 | c.245T>A (p.Met82Lys) c.242T>A (p.Met81Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112450425T>C | CA386777964 | PTPN11 | c.245T>C (p.Met82Thr) c.242T>C (p.Met81Thr) | COSMIC |
| 12 | g.112450425T>G | CA386777966 | PTPN11 | c.245T>G (p.Met82Arg) c.242T>G (p.Met81Arg) | |
| 12 | g.112450425T= | CA2063740366 | PTPN11 | c.245T= (p.Met82=) c.242T= (p.Met81=) | |
| 12 | g.112450426G>A | CA243707920 | PTPN11 | c.246G>A (p.Met82Ile) c.243G>A (p.Met81Ile) | dbSNP gnomAD v4 |
| 12 | g.112450426G>C | CA386777970 | PTPN11 | c.246G>C (p.Met82Ile) c.243G>C (p.Met81Ile) | ClinVar dbSNP |
| 12 | g.112450426G= | CA2063740377 | PTPN11 | c.246G= (p.Met82=) c.243G= (p.Met81=) | |
| 12 | g.112450426G>T | CA386777972 | PTPN11 | c.246G>T (p.Met82Ile) c.243G>T (p.Met81Ile) | dbSNP |
| 12 | g.112450427G>A | CA386777974 | PTPN11 | c.247G>A (p.Glu83Lys) c.244G>A (p.Glu82Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112450427G>C | CA386777976 | PTPN11 | c.247G>C (p.Glu83Gln) c.244G>C (p.Glu82Gln) | |
| 12 | g.112450427G= | CA2063740384 | PTPN11 | c.247G= (p.Glu83=) c.244G= (p.Glu82=) | |
| 12 | g.112450427G>T | CA386777979 | PTPN11 | c.247G>T (p.Glu83Ter) c.244G>T (p.Glu82Ter) | |
| 12 | g.112450428A>C | CA386777982 | PTPN11 | c.248A>C (p.Glu83Ala) c.245A>C (p.Glu82Ala) | |
| 12 | g.112450428A>G | CA386777986 | PTPN11 | c.248A>G (p.Glu83Gly) c.245A>G (p.Glu82Gly) | dbSNP gnomAD v4 |
| 12 | g.112450428A>T | CA386777984 | PTPN11 | c.248A>T (p.Glu83Val) c.245A>T (p.Glu82Val) | dbSNP |
| 12 | g.112450429A>C | CA386777988 | PTPN11 | c.249A>C (p.Glu83Asp) c.246A>C (p.Glu82Asp) | |
| 12 | g.112450429A>G | CA481881826 | PTPN11 | c.249A>G (p.Glu83=) c.246A>G (p.Glu82=) | COSMIC |
| 12 | g.112450429A>T | CA386777991 | PTPN11 | c.249A>T (p.Glu83Asp) c.246A>T (p.Glu82Asp) | dbSNP |
| 12 | g.112450430C>A | CA386777993 | PTPN11 | c.250C>A (p.His84Asn) c.247C>A (p.His83Asn) | dbSNP |
| 12 | g.112450430C>G | CA386777996 | PTPN11 | c.250C>G (p.His84Asp) c.247C>G (p.His83Asp) | dbSNP |
| 12 | g.112450430C>T | CA386777997 | PTPN11 | c.250C>T (p.His84Tyr) c.247C>T (p.His83Tyr) | dbSNP |
| 12 | g.112450431A>C | CA386777999 | PTPN11 | c.251A>C (p.His84Pro) c.248A>C (p.His83Pro) | |
| 12 | g.112450431A>G | CA386778001 | PTPN11 | c.251A>G (p.His84Arg) c.248A>G (p.His83Arg) | |
| 12 | g.112450431A>T | CA386778003 | PTPN11 | c.251A>T (p.His84Leu) c.248A>T (p.His83Leu) | |
| 12 | g.112450432T>A | CA386778005 | PTPN11 | c.252T>A (p.His84Gln) c.249T>A (p.His83Gln) | dbSNP |
| 12 | g.112450432T>C | CA481881830 | PTPN11 | c.252T>C (p.His84=) c.249T>C (p.His83=) | dbSNP |
| 12 | g.112450432T>G | CA386778008 | PTPN11 | c.252T>G (p.His84Gln) c.249T>G (p.His83Gln) | |
| 12 | g.112450433C>A | CA386778011 | PTPN11 | c.253C>A (p.His85Asn) c.250C>A (p.His84Asn) | dbSNP |
| 12 | g.112450433C>G | CA386778014 | PTPN11 | c.253C>G (p.His85Asp) c.250C>G (p.His84Asp) | dbSNP |
| 12 | g.112450433C>T | CA386778010 | PTPN11 | c.253C>T (p.His85Tyr) c.250C>T (p.His84Tyr) | dbSNP gnomAD v4 COSMIC |
| 12 | g.112450434A>C | CA386778016 | PTPN11 | c.254A>C (p.His85Pro) c.251A>C (p.His84Pro) | |
| 12 | g.112450434A>G | CA386778019 | PTPN11 | c.254A>G (p.His85Arg) c.251A>G (p.His84Arg) | dbSNP |
| 12 | g.112450434A>T | CA386778021 | PTPN11 | c.254A>T (p.His85Leu) c.251A>T (p.His84Leu) | dbSNP |
| 12 | g.112450435C>A | CA386778024 | PTPN11 | c.255C>A (p.His85Gln) c.252C>A (p.His84Gln) | dbSNP |
| 12 | g.112450435C= | CA2063740394 | PTPN11 | c.255C= (p.His85=) c.252C= (p.His84=) | |
| 12 | g.112450435C>G | CA386778025 | PTPN11 | c.255C>G (p.His85Gln) c.252C>G (p.His84Gln) | dbSNP |
| 12 | g.112450435C>T | CA134659 | PTPN11 | c.255C>T (p.His85=) c.252C>T (p.His84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112450436G>A | CA243707921 | PTPN11 | c.256G>A (p.Gly86Arg) c.253G>A (p.Gly85Arg) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450436G>C | CA386778026 | PTPN11 | c.256G>C (p.Gly86Arg) c.253G>C (p.Gly85Arg) | dbSNP |
| 12 | g.112450436G= | CA2063740400 | PTPN11 | c.256G= (p.Gly86=) c.253G= (p.Gly85=) | |
| 12 | g.112450436G>T | CA243707922 | PTPN11 | c.256G>T (p.Gly86Trp) c.253G>T (p.Gly85Trp) | dbSNP |
| 12 | g.112450437G>A | CA386778029 | PTPN11 | c.257G>A (p.Gly86Glu) c.254G>A (p.Gly85Glu) | dbSNP |
| 12 | g.112450437G>C | CA386778030 | PTPN11 | c.257G>C (p.Gly86Ala) c.254G>C (p.Gly85Ala) | dbSNP |
| 12 | g.112450437G>T | CA386778033 | PTPN11 | c.257G>T (p.Gly86Val) c.254G>T (p.Gly85Val) | dbSNP |
| 12 | g.112450438G>A | CA481881836 | PTPN11 | c.258G>A (p.Gly86=) c.255G>A (p.Gly85=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112450438G>C | CA481881837 | PTPN11 | c.258G>C (p.Gly86=) c.255G>C (p.Gly85=) | dbSNP |
| 12 | g.112450438G= | CA2063740405 | PTPN11 | c.258G= (p.Gly86=) c.255G= (p.Gly85=) | |
| 12 | g.112450438G>T | CA481881838 | PTPN11 | c.258G>T (p.Gly86=) c.255G>T (p.Gly85=) | dbSNP |
| 12 | g.112450439C>A | CA386778039 | PTPN11 | c.259C>A (p.Gln87Lys) c.256C>A (p.Gln86Lys) | dbSNP |
| 12 | g.112450439C>G | CA386778041 | PTPN11 | c.259C>G (p.Gln87Glu) c.256C>G (p.Gln86Glu) | dbSNP |
| 12 | g.112450439C>T | CA386778036 | PTPN11 | c.259C>T (p.Gln87Ter) c.256C>T (p.Gln86Ter) | dbSNP |
| 12 | g.112450440A>C | CA386778042 | PTPN11 | c.260A>C (p.Gln87Pro) c.257A>C (p.Gln86Pro) | |
| 12 | g.112450440A>G | CA386778043 | PTPN11 | c.260A>G (p.Gln87Arg) c.257A>G (p.Gln86Arg) | |
| 12 | g.112450440A>T | CA386778044 | PTPN11 | c.260A>T (p.Gln87Leu) c.257A>T (p.Gln86Leu) | |
| 12 | g.112450441A>C | CA386778045 | PTPN11 | c.261A>C (p.Gln87His) c.258A>C (p.Gln86His) | |
| 12 | g.112450441A>G | CA481881842 | PTPN11 | c.261A>G (p.Gln87=) c.258A>G (p.Gln86=) | |
| 12 | g.112450441A>T | CA386778046 | PTPN11 | c.261A>T (p.Gln87His) c.258A>T (p.Gln86His) | dbSNP |
| 12 | g.112450442T>A | CA386778048 | PTPN11 | c.262T>A (p.Leu88Ile) c.259T>A (p.Leu87Ile) | dbSNP |
| 12 | g.112450442T>C | CA481881844 | PTPN11 | c.262T>C (p.Leu88=) c.259T>C (p.Leu87=) | |
| 12 | g.112450442T>G | CA386778050 | PTPN11 | c.262T>G (p.Leu88Val) c.259T>G (p.Leu87Val) | |
| 12 | g.112450443T>A | CA386778056 | PTPN11 | c.263T>A (p.Leu88Ter) c.260T>A (p.Leu87Ter) | |
| 12 | g.112450443T>C | CA386778060 | PTPN11 | c.263T>C (p.Leu88Ser) c.260T>C (p.Leu87Ser) | |
| 12 | g.112450443T>G | CA386778058 | PTPN11 | c.263T>G (p.Leu88Ter) c.260T>G (p.Leu87Ter) | |
| 12 | g.112450444A>C | CA386778062 | PTPN11 | c.264A>C (p.Leu88Phe) c.261A>C (p.Leu87Phe) | |
| 12 | g.112450444A>G | CA481881846 | PTPN11 | c.264A>G (p.Leu88=) c.261A>G (p.Leu87=) | gnomAD v4 |
| 12 | g.112450444A>T | CA386778063 | PTPN11 | c.264A>T (p.Leu88Phe) c.261A>T (p.Leu87Phe) | dbSNP |
| 12 | g.112450445_112450449del | CA913187378 | PTPN11 | c.265_269del (p.Lys89GlufsTer7) c.262_266del (p.Lys88GlufsTer7) | ClinVar |
| 12 | g.112450445A>C | CA386778065 | PTPN11 | c.265A>C (p.Lys89Gln) c.262A>C (p.Lys88Gln) | |
| 12 | g.112450445A>G | CA386778067 | PTPN11 | c.265A>G (p.Lys89Glu) c.262A>G (p.Lys88Glu) | |
| 12 | g.112450445A>T | CA386778070 | PTPN11 | c.265A>T (p.Lys89Ter) c.262A>T (p.Lys88Ter) | dbSNP |
| 12 | g.112450446A>C | CA386778077 | PTPN11 | c.266A>C (p.Lys89Thr) c.263A>C (p.Lys88Thr) | |
| 12 | g.112450446A>G | CA386778080 | PTPN11 | c.266A>G (p.Lys89Arg) c.263A>G (p.Lys88Arg) | |
| 12 | g.112450446A>T | CA386778073 | PTPN11 | c.266A>T (p.Lys89Ile) c.263A>T (p.Lys88Ile) | dbSNP |
| 12 | g.112450447A>C | CA386778087 | PTPN11 | c.267A>C (p.Lys89Asn) c.264A>C (p.Lys88Asn) | |
| 12 | g.112450447A>G | CA481881851 | PTPN11 | c.267A>G (p.Lys89=) c.264A>G (p.Lys88=) | dbSNP |
| 12 | g.112450447A>T | CA386778084 | PTPN11 | c.267A>T (p.Lys89Asn) c.264A>T (p.Lys88Asn) | |
| 12 | g.112450448G>A | CA386778095 | PTPN11 | c.268G>A (p.Glu90Lys) c.265G>A (p.Glu89Lys) | dbSNP |
| 12 | g.112450448G>C | CA386778091 | PTPN11 | c.268G>C (p.Glu90Gln) c.265G>C (p.Glu89Gln) | dbSNP |
| 12 | g.112450448G>T | CA386778093 | PTPN11 | c.268G>T (p.Glu90Ter) c.265G>T (p.Glu89Ter) | |
| 12 | g.112450449A>C | CA386778098 | PTPN11 | c.269A>C (p.Glu90Ala) c.266A>C (p.Glu89Ala) | |
| 12 | g.112450449A>G | CA386778101 | PTPN11 | c.269A>G (p.Glu90Gly) c.266A>G (p.Glu89Gly) | |
| 12 | g.112450449A>T | CA386778104 | PTPN11 | c.269A>T (p.Glu90Val) c.266A>T (p.Glu89Val) | dbSNP |
| 12 | g.112450450G>A | CA481881853 | PTPN11 | c.270G>A (p.Glu90=) c.267G>A (p.Glu89=) | dbSNP |
| 12 | g.112450450G>C | CA386778108 | PTPN11 | c.270G>C (p.Glu90Asp) c.267G>C (p.Glu89Asp) | dbSNP |
| 12 | g.112450450G>T | CA386778109 | PTPN11 | c.270G>T (p.Glu90Asp) c.267G>T (p.Glu89Asp) | |
| 12 | g.112450451A>C | CA386778111 | PTPN11 | c.271A>C (p.Lys91Gln) c.268A>C (p.Lys90Gln) | |
| 12 | g.112450451A>G | CA386778122 | PTPN11 | c.271A>G (p.Lys91Glu) c.268A>G (p.Lys90Glu) | |
| 12 | g.112450451A>T | CA386778126 | PTPN11 | c.271A>T (p.Lys91Ter) c.268A>T (p.Lys90Ter) | dbSNP |
| 12 | g.112450452A= | CA2063740411 | PTPN11 | c.272A= (p.Lys91=) c.269A= (p.Lys90=) | |
| 12 | g.112450452A>C | CA386778129 | PTPN11 | c.272A>C (p.Lys91Thr) c.269A>C (p.Lys90Thr) | |
| 12 | g.112450452A>G | CA354982 | PTPN11 | c.272A>G (p.Lys91Arg) c.269A>G (p.Lys90Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112450452A>T | CA386778140 | PTPN11 | c.272A>T (p.Lys91Met) c.269A>T (p.Lys90Met) | dbSNP |
| 12 | g.112450453G>A | CA481881855 | PTPN11 | c.273G>A (p.Lys91=) c.270G>A (p.Lys90=) | dbSNP |
| 12 | g.112450453G>C | CA386778141 | PTPN11 | c.273G>C (p.Lys91Asn) c.270G>C (p.Lys90Asn) | dbSNP |
| 12 | g.112450453G>T | CA386778142 | PTPN11 | c.273G>T (p.Lys91Asn) c.270G>T (p.Lys90Asn) | |
| 12 | g.112450454A>C | CA386778143 | PTPN11 | c.274A>C (p.Asn92His) c.271A>C (p.Asn91His) | |
| 12 | g.112450454A>G | CA386778144 | PTPN11 | c.274A>G (p.Asn92Asp) c.271A>G (p.Asn91Asp) | gnomAD v4 |
| 12 | g.112450454A>T | CA386778147 | PTPN11 | c.274A>T (p.Asn92Tyr) c.271A>T (p.Asn91Tyr) | dbSNP |
| 12 | g.112450455A>C | CA386778151 | PTPN11 | c.275A>C (p.Asn92Thr) c.272A>C (p.Asn91Thr) | |
| 12 | g.112450455A>G | CA386778153 | PTPN11 | c.275A>G (p.Asn92Ser) c.272A>G (p.Asn91Ser) | |
| 12 | g.112450455A>T | CA386778158 | PTPN11 | c.275A>T (p.Asn92Ile) c.272A>T (p.Asn91Ile) | dbSNP |
| 12 | g.112450456T>A | CA386778161 | PTPN11 | c.276T>A (p.Asn92Lys) c.273T>A (p.Asn91Lys) | ClinVar dbSNP |
| 12 | g.112450456T>C | CA481881856 | PTPN11 | c.276T>C (p.Asn92=) c.273T>C (p.Asn91=) | |
| 12 | g.112450456T>G | CA386778163 | PTPN11 | c.276T>G (p.Asn92Lys) c.273T>G (p.Asn91Lys) | |
| 12 | g.112450457G>A | CA386778164 | PTPN11 | c.277G>A (p.Gly93Arg) c.274G>A (p.Gly92Arg) | dbSNP |
| 12 | g.112450457G>C | CA386778165 | PTPN11 | c.277G>C (p.Gly93Arg) c.274G>C (p.Gly92Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112450457G= | CA2063740417 | PTPN11 | c.277G= (p.Gly93=) c.274G= (p.Gly92=) | |
| 12 | g.112450457G>T | CA386778166 | PTPN11 | c.277G>T (p.Gly93Ter) c.274G>T (p.Gly92Ter) | |
| 12 | g.112450458G>A | CA386778168 | PTPN11 | c.278G>A (p.Gly93Glu) c.275G>A (p.Gly92Glu) | dbSNP |
| 12 | g.112450458G>C | CA386778169 | PTPN11 | c.278G>C (p.Gly93Ala) c.275G>C (p.Gly92Ala) | dbSNP |
| 12 | g.112450458G>T | CA386778167 | PTPN11 | c.278G>T (p.Gly93Val) c.275G>T (p.Gly92Val) | dbSNP |
| 12 | g.112450459A>C | CA481881858 | PTPN11 | c.279A>C (p.Gly93=) c.276A>C (p.Gly92=) | |
| 12 | g.112450459A>G | CA481881859 | PTPN11 | c.279A>G (p.Gly93=) c.276A>G (p.Gly92=) | |
| 12 | g.112450459A>T | CA481881860 | PTPN11 | c.279A>T (p.Gly93=) c.276A>T (p.Gly92=) | ClinVar dbSNP |
| 12 | g.112450460G>A | CA386778173 | PTPN11 | c.280G>A (p.Asp94Asn) c.277G>A (p.Asp93Asn) | dbSNP |
| 12 | g.112450460G>C | CA386778176 | PTPN11 | c.280G>C (p.Asp94His) c.277G>C (p.Asp93His) | dbSNP |
| 12 | g.112450460G>T | CA386778180 | PTPN11 | c.280G>T (p.Asp94Tyr) c.277G>T (p.Asp93Tyr) | dbSNP |
| 12 | g.112450461A>C | CA386778187 | PTPN11 | c.281A>C (p.Asp94Ala) c.278A>C (p.Asp93Ala) | |
| 12 | g.112450461A>G | CA386778190 | PTPN11 | c.281A>G (p.Asp94Gly) c.278A>G (p.Asp93Gly) | ClinVar dbSNP |
| 12 | g.112450461A>T | CA386778196 | PTPN11 | c.281A>T (p.Asp94Val) c.278A>T (p.Asp93Val) | ClinVar dbSNP |
| 12 | g.112450462T>A | CA386778201 | PTPN11 | c.282T>A (p.Asp94Glu) c.279T>A (p.Asp93Glu) | dbSNP |
| 12 | g.112450462T>C | CA481881862 | PTPN11 | c.282T>C (p.Asp94=) c.279T>C (p.Asp93=) | dbSNP |
| 12 | g.112450462T>G | CA386778199 | PTPN11 | c.282T>G (p.Asp94Glu) c.279T>G (p.Asp93Glu) | |
| 12 | g.112450463G>A | CA386778206 | PTPN11 | c.283G>A (p.Val95Ile) c.280G>A (p.Val94Ile) | ClinVar dbSNP |
| 12 | g.112450463G>C | CA386778207 | PTPN11 | c.283G>C (p.Val95Leu) c.280G>C (p.Val94Leu) | dbSNP |
| 12 | g.112450463G>T | CA386778210 | PTPN11 | c.283G>T (p.Val95Phe) c.280G>T (p.Val94Phe) | gnomAD v4 |
| 12 | g.112450464T>A | CA386778211 | PTPN11 | c.284T>A (p.Val95Asp) c.281T>A (p.Val94Asp) | dbSNP |
| 12 | g.112450464T>C | CA386778212 | PTPN11 | c.284T>C (p.Val95Ala) c.281T>C (p.Val94Ala) | |
| 12 | g.112450464T>G | CA386778213 | PTPN11 | c.284T>G (p.Val95Gly) c.281T>G (p.Val94Gly) | dbSNP |
| 12 | g.112450465C>A | CA481881864 | PTPN11 | c.285C>A (p.Val95=) c.282C>A (p.Val94=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450465C>G | CA481881866 | PTPN11 | c.285C>G (p.Val95=) c.282C>G (p.Val94=) | dbSNP |
| 12 | g.112450465C>T | CA481881868 | PTPN11 | c.285C>T (p.Val95=) c.282C>T (p.Val94=) | dbSNP gnomAD v4 |
| 12 | g.112450466A>C | CA386778216 | PTPN11 | c.286A>C (p.Ile96Leu) c.283A>C (p.Ile95Leu) | |
| 12 | g.112450466A>G | CA386778224 | PTPN11 | c.286A>G (p.Ile96Val) c.283A>G (p.Ile95Val) | |
| 12 | g.112450466A>T | CA386778218 | PTPN11 | c.286A>T (p.Ile96Phe) c.283A>T (p.Ile95Phe) | |
| 12 | g.112450467T>A | CA386778226 | PTPN11 | c.287T>A (p.Ile96Asn) c.284T>A (p.Ile95Asn) | |
| 12 | g.112450467T>C | CA386778229 | PTPN11 | c.287T>C (p.Ile96Thr) c.284T>C (p.Ile95Thr) | dbSNP gnomAD v4 |
| 12 | g.112450467T>G | CA386778231 | PTPN11 | c.287T>G (p.Ile96Ser) c.284T>G (p.Ile95Ser) | dbSNP |
| 12 | g.112450468T>A | CA481881870 | PTPN11 | c.288T>A (p.Ile96=) c.285T>A (p.Ile95=) | dbSNP |
| 12 | g.112450468T>C | CA243707923 | PTPN11 | c.288T>C (p.Ile96=) c.285T>C (p.Ile95=) | dbSNP |
| 12 | g.112450468T>G | CA386778233 | PTPN11 | c.288T>G (p.Ile96Met) c.285T>G (p.Ile95Met) | gnomAD v4 |
| 12 | g.112450468T= | CA2063740420 | PTPN11 | c.288T= (p.Ile96=) c.285T= (p.Ile95=) | |
| 12 | g.112450469G>A | CA386778236 | PTPN11 | c.289G>A (p.Glu97Lys) c.286G>A (p.Glu96Lys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450469G>C | CA282082 | PTPN11 | c.289G>C (p.Glu97Gln) c.286G>C (p.Glu96Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112450469G= | CA2063740423 | PTPN11 | c.289G= (p.Glu97=) c.286G= (p.Glu96=) | |
| 12 | g.112450469G>T | CA386778241 | PTPN11 | c.289G>T (p.Glu97Ter) c.286G>T (p.Glu96Ter) | dbSNP |
| 12 | g.112450470A>C | CA386778249 | PTPN11 | c.290A>C (p.Glu97Ala) c.287A>C (p.Glu96Ala) | |
| 12 | g.112450470A>G | CA386778251 | PTPN11 | c.290A>G (p.Glu97Gly) c.287A>G (p.Glu96Gly) | |
| 12 | g.112450470A>T | CA386778253 | PTPN11 | c.290A>T (p.Glu97Val) c.287A>T (p.Glu96Val) | ClinVar dbSNP |
| 12 | g.112450471G>A | CA481881873 | PTPN11 | c.291G>A (p.Glu97=) c.288G>A (p.Glu96=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112450471G>C | CA386778255 | PTPN11 | c.291G>C (p.Glu97Asp) c.288G>C (p.Glu96Asp) | dbSNP |
| 12 | g.112450471G= | CA2063740457 | PTPN11 | c.291G= (p.Glu97=) c.288G= (p.Glu96=) | |
| 12 | g.112450471G>T | CA386778263 | PTPN11 | c.291G>T (p.Glu97Asp) c.288G>T (p.Glu96Asp) | dbSNP |
| 12 | g.112450472C>A | CA386778268 | PTPN11 | c.292C>A (p.Leu98Ile) c.289C>A (p.Leu97Ile) | |
| 12 | g.112450472C>G | CA386778267 | PTPN11 | c.292C>G (p.Leu98Val) c.289C>G (p.Leu97Val) | |
| 12 | g.112450472C>T | CA386778266 | PTPN11 | c.292C>T (p.Leu98Phe) c.289C>T (p.Leu97Phe) | COSMIC |
| 12 | g.112450473T>A | CA386778271 | PTPN11 | c.293T>A (p.Leu98His) c.290T>A (p.Leu97His) | dbSNP |
| 12 | g.112450473T>C | CA386778279 | PTPN11 | c.293T>C (p.Leu98Pro) c.290T>C (p.Leu97Pro) | dbSNP gnomAD v4 |
| 12 | g.112450473T>G | CA386778274 | PTPN11 | c.293T>G (p.Leu98Arg) c.290T>G (p.Leu97Arg) | |
| 12 | g.112450474del | CA2727234709 | PTPN11 | c.294del (p.Lys99AsnfsTer4) c.291del (p.Lys98AsnfsTer4) | dbSNP |
| 12 | g.112450474T>A | CA481881876 | PTPN11 | c.294T>A (p.Leu98=) c.291T>A (p.Leu97=) | |
| 12 | g.112450474T>C | CA481881877 | PTPN11 | c.294T>C (p.Leu98=) c.291T>C (p.Leu97=) | |
| 12 | g.112450474T>G | CA481881878 | PTPN11 | c.294T>G (p.Leu98=) c.291T>G (p.Leu97=) | ClinVar |
| 12 | g.112450475A= | CA2063740460 | PTPN11 | c.295A= (p.Lys99=) c.292A= (p.Lys98=) | |
| 12 | g.112450475A>C | CA386778282 | PTPN11 | c.295A>C (p.Lys99Gln) c.292A>C (p.Lys98Gln) | |
| 12 | g.112450475A>G | CA386778285 | PTPN11 | c.295A>G (p.Lys99Glu) c.292A>G (p.Lys98Glu) | |
| 12 | g.112450475A>T | CA129805 | PTPN11 | c.295A>T (p.Lys99Ter) c.292A>T (p.Lys98Ter) | ClinVar dbSNP |
| 12 | g.112450476A>C | CA386778288 | PTPN11 | c.296A>C (p.Lys99Thr) c.293A>C (p.Lys98Thr) | |
| 12 | g.112450476A>G | CA386778289 | PTPN11 | c.296A>G (p.Lys99Arg) c.293A>G (p.Lys98Arg) | |
| 12 | g.112450476A>T | CA386778291 | PTPN11 | c.296A>T (p.Lys99Ile) c.293A>T (p.Lys98Ile) | dbSNP |
| 12 | g.112450477A>C | CA386778292 | PTPN11 | c.297A>C (p.Lys99Asn) c.294A>C (p.Lys98Asn) | dbSNP |
| 12 | g.112450477A>G | CA481881882 | PTPN11 | c.297A>G (p.Lys99=) c.294A>G (p.Lys98=) | dbSNP gnomAD v4 |
| 12 | g.112450477A>T | CA386778295 | PTPN11 | c.297A>T (p.Lys99Asn) c.294A>T (p.Lys98Asn) | |
| 12 | g.112450478T>A | CA386778297 | PTPN11 | c.298T>A (p.Tyr100Asn) c.295T>A (p.Tyr99Asn) | dbSNP |
| 12 | g.112450478T>C | CA386778299 | PTPN11 | c.298T>C (p.Tyr100His) c.295T>C (p.Tyr99His) | |
| 12 | g.112450478T>G | CA386778302 | PTPN11 | c.298T>G (p.Tyr100Asp) c.295T>G (p.Tyr99Asp) | |
| 12 | g.112450479A>C | CA386778305 | PTPN11 | c.299A>C (p.Tyr100Ser) c.296A>C (p.Tyr99Ser) | |
| 12 | g.112450479A>G | CA386778308 | PTPN11 | c.299A>G (p.Tyr100Cys) c.296A>G (p.Tyr99Cys) | |
| 12 | g.112450479A>T | CA386778310 | PTPN11 | c.299A>T (p.Tyr100Phe) c.296A>T (p.Tyr99Phe) | dbSNP |
| 12 | g.112450480T>A | CA386778313 | PTPN11 | c.300T>A (p.Tyr100Ter) c.297T>A (p.Tyr99Ter) | |
| 12 | g.112450480T>C | CA481881886 | PTPN11 | c.300T>C (p.Tyr100=) c.297T>C (p.Tyr99=) | |
| 12 | g.112450480T>G | CA386778314 | PTPN11 | c.300T>G (p.Tyr100Ter) c.297T>G (p.Tyr99Ter) | |
| 12 | g.112450481C>A | CA386778319 | PTPN11 | c.301C>A (p.Pro101Thr) c.298C>A (p.Pro100Thr) | dbSNP |
| 12 | g.112450481C= | CA2063740464 | PTPN11 | c.301C= (p.Pro101=) c.298C= (p.Pro100=) | |
| 12 | g.112450481C>G | CA6798534 | PTPN11 | c.301C>G (p.Pro101Ala) c.298C>G (p.Pro100Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112450481C>T | CA386778322 | PTPN11 | c.301C>T (p.Pro101Ser) c.298C>T (p.Pro100Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450482C>A | CA386778325 | PTPN11 | c.302C>A (p.Pro101His) c.299C>A (p.Pro100His) | dbSNP |
| 12 | g.112450482C>G | CA386778326 | PTPN11 | c.302C>G (p.Pro101Arg) c.299C>G (p.Pro100Arg) | dbSNP gnomAD v4 |
| 12 | g.112450482C>T | CA386778329 | PTPN11 | c.302C>T (p.Pro101Leu) c.299C>T (p.Pro100Leu) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450483T>A | CA481881889 | PTPN11 | c.303T>A (p.Pro101=) c.300T>A (p.Pro100=) | dbSNP |
| 12 | g.112450483T>C | CA481881890 | PTPN11 | c.303T>C (p.Pro101=) c.300T>C (p.Pro100=) | |
| 12 | g.112450483T>G | CA481881891 | PTPN11 | c.303T>G (p.Pro101=) c.300T>G (p.Pro100=) | |
| 12 | g.112450484C>A | CA386778332 | PTPN11 | c.304C>A (p.Leu102Met) c.301C>A (p.Leu101Met) | |
| 12 | g.112450484C>G | CA386778335 | PTPN11 | c.304C>G (p.Leu102Val) c.301C>G (p.Leu101Val) | |
| 12 | g.112450484C>T | CA481881893 | PTPN11 | c.304C>T (p.Leu102=) c.301C>T (p.Leu101=) | |
| 12 | g.112450485T>A | CA386778338 | PTPN11 | c.305T>A (p.Leu102Gln) c.302T>A (p.Leu101Gln) | dbSNP |
| 12 | g.112450485T>C | CA386778341 | PTPN11 | c.305T>C (p.Leu102Pro) c.302T>C (p.Leu101Pro) | dbSNP |
| 12 | g.112450485T>G | CA386778345 | PTPN11 | c.305T>G (p.Leu102Arg) c.302T>G (p.Leu101Arg) |