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 |