Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) |