Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.112450355_112450366dup | CA1139662887 | PTPN11 | c.175_186dup (p.Tyr62_Tyr63insThrGlyAspTyr) c.172_183dup (p.Tyr61_Tyr62insThrGlyAspTyr) | ClinVar |
12 | g.112450364T>A | CA282076 | PTPN11 | c.184T>A (p.Tyr62Asn) c.181T>A (p.Tyr61Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112450364T>C | CA386777592 | PTPN11 | c.184T>C (p.Tyr62His) c.181T>C (p.Tyr61His) | gnomAD v4 |
12 | g.112450364T>G | CA234749 | PTPN11 | c.184T>G (p.Tyr62Asp) c.181T>G (p.Tyr61Asp) | ClinVar dbSNP COSMIC |
12 | g.112450364T= | CA2063740115 | PTPN11 | c.184T= (p.Tyr62=) c.181T= (p.Tyr61=) | |
12 | g.112450364_112450365delinsAT | CA2739277320 | PTPN11 | c.184_185delinsAT (p.Tyr62Ile) c.181_182delinsAT (p.Tyr61Ile) | ClinVar |
12 | g.112450366_112450368del | CA1139662888 | PTPN11 | c.186_188del (p.Tyr63del) c.183_185del (p.Tyr62del) | ClinVar |
12 | g.112450365A= | CA2063740123 | PTPN11 | c.185A= (p.Tyr62=) c.182A= (p.Tyr61=) | |
12 | g.112450365A>C | CA386777608 | PTPN11 | c.185A>C (p.Tyr62Ser) c.182A>C (p.Tyr61Ser) | ClinVar gnomAD v4 |
12 | g.112450365A>G | CA243707919 | PTPN11 | c.185A>G (p.Tyr62Cys) c.182A>G (p.Tyr61Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112450365A>T | CA386777612 | PTPN11 | c.185A>T (p.Tyr62Phe) c.182A>T (p.Tyr61Phe) | dbSNP |
12 | g.112450366C>A | CA386777615 | PTPN11 | c.186C>A (p.Tyr62Ter) c.183C>A (p.Tyr61Ter) | |
12 | g.112450366C>G | CA386777617 | PTPN11 | c.186C>G (p.Tyr62Ter) c.183C>G (p.Tyr61Ter) | dbSNP |
12 | g.112450366C>T | CA481881749 | PTPN11 | c.186C>T (p.Tyr62=) c.183C>T (p.Tyr61=) | dbSNP gnomAD v4 |
12 | g.112450367T>A | CA386777619 | PTPN11 | c.187T>A (p.Tyr63Asn) c.184T>A (p.Tyr62Asn) | |
12 | g.112450367T>C | CA386777622 | PTPN11 | c.187T>C (p.Tyr63His) c.184T>C (p.Tyr62His) | dbSNP |
12 | g.112450367T>G | CA386777625 | PTPN11 | c.187T>G (p.Tyr63Asp) c.184T>G (p.Tyr62Asp) | |
12 | g.112450368_112450378del | CA2621021698 | PTPN11 | c.188_198del (p.Tyr63TrpfsTer10) c.185_195del (p.Tyr62TrpfsTer10) | gnomAD v4 |
12 | g.112450368A= | CA2063740132 | PTPN11 | c.188A= (p.Tyr63=) c.185A= (p.Tyr62=) | |
12 | g.112450368A>C | CA386777628 | PTPN11 | c.188A>C (p.Tyr63Ser) c.185A>C (p.Tyr62Ser) | |
12 | g.112450368A>G | CA220146 | PTPN11 | c.188A>G (p.Tyr63Cys) c.185A>G (p.Tyr62Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.112450368A>T | CA386777632 | PTPN11 | c.188A>T (p.Tyr63Phe) c.185A>T (p.Tyr62Phe) | dbSNP |
12 | g.112450368_112450369delinsAT | CA2063740135 | PTPN11 | c.188_189delinsAT (p.Tyr63=) c.185_186delinsAT (p.Tyr62=) | |
12 | g.112450368_112450369delinsGC | CA16042834 | PTPN11 | c.188_189delinsGC (p.Tyr63Cys) c.185_186delinsGC (p.Tyr62Cys) | ClinVar dbSNP |
12 | g.112450369T>A | CA386777636 | PTPN11 | c.189T>A (p.Tyr63Ter) c.186T>A (p.Tyr62Ter) | dbSNP |
12 | g.112450369T>C | CA481881753 | PTPN11 | c.189T>C (p.Tyr63=) c.186T>C (p.Tyr62=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112450369T>G | CA386777638 | PTPN11 | c.189T>G (p.Tyr63Ter) c.186T>G (p.Tyr62Ter) | |
12 | g.112450369T= | CA2063740140 | PTPN11 | c.189T= (p.Tyr63=) c.186T= (p.Tyr62=) | |
12 | g.112450370G>A | CA386777641 | PTPN11 | c.190G>A (p.Asp64Asn) c.187G>A (p.Asp63Asn) | dbSNP COSMIC |
12 | g.112450370G>C | CA386777644 | PTPN11 | c.190G>C (p.Asp64His) c.187G>C (p.Asp63His) | dbSNP |
12 | g.112450370G>T | CA386777647 | PTPN11 | c.190G>T (p.Asp64Tyr) c.187G>T (p.Asp63Tyr) | gnomAD v4 |
12 | g.112450371A>C | CA386777648 | PTPN11 | c.191A>C (p.Asp64Ala) c.188A>C (p.Asp63Ala) | |
12 | g.112450371A>G | CA386777650 | PTPN11 | c.191A>G (p.Asp64Gly) c.188A>G (p.Asp63Gly) | dbSNP |
12 | g.112450371A>T | CA386777652 | PTPN11 | c.191A>T (p.Asp64Val) c.188A>T (p.Asp63Val) | dbSNP |
12 | g.112450372C>A | CA386777655 | PTPN11 | c.192C>A (p.Asp64Glu) c.189C>A (p.Asp63Glu) | dbSNP |
12 | g.112450372C>G | CA386777663 | PTPN11 | c.192C>G (p.Asp64Glu) c.189C>G (p.Asp63Glu) | dbSNP |
12 | g.112450372C>T | CA481881759 | PTPN11 | c.192C>T (p.Asp64=) c.189C>T (p.Asp63=) | dbSNP gnomAD v4 |
12 | g.112450373C>A | CA386777670 | PTPN11 | c.193C>A (p.Leu65Met) c.190C>A (p.Leu64Met) | dbSNP |
12 | g.112450373C>G | CA386777672 | PTPN11 | c.193C>G (p.Leu65Val) c.190C>G (p.Leu64Val) | dbSNP |
12 | g.112450373C>T | CA481881760 | PTPN11 | c.193C>T (p.Leu65=) c.190C>T (p.Leu64=) | dbSNP |
12 | g.112450374T>A | CA386777674 | PTPN11 | c.194T>A (p.Leu65Gln) c.191T>A (p.Leu64Gln) | dbSNP |
12 | g.112450374T>C | CA386777677 | PTPN11 | c.194T>C (p.Leu65Pro) c.191T>C (p.Leu64Pro) | dbSNP |
12 | g.112450374T>G | CA386777681 | PTPN11 | c.194T>G (p.Leu65Arg) c.191T>G (p.Leu64Arg) | |
12 | g.112450375G>A | CA481881764 | PTPN11 | c.195G>A (p.Leu65=) c.192G>A (p.Leu64=) | dbSNP |
12 | g.112450375G>C | CA481881765 | PTPN11 | c.195G>C (p.Leu65=) c.192G>C (p.Leu64=) | dbSNP gnomAD v4 |
12 | g.112450375G>T | CA481881767 | PTPN11 | c.195G>T (p.Leu65=) c.192G>T (p.Leu64=) | |
12 | g.112450376T>A | CA386777689 | PTPN11 | c.196T>A (p.Tyr66Asn) c.193T>A (p.Tyr65Asn) | dbSNP |
12 | g.112450376T>C | CA386777687 | PTPN11 | c.196T>C (p.Tyr66His) c.193T>C (p.Tyr65His) | dbSNP |
12 | g.112450376T>G | CA386777684 | PTPN11 | c.196T>G (p.Tyr66Asp) c.193T>G (p.Tyr65Asp) | dbSNP |
12 | g.112450377A>C | CA386777693 | PTPN11 | c.197A>C (p.Tyr66Ser) c.194A>C (p.Tyr65Ser) | |
12 | g.112450377A>G | CA386777695 | PTPN11 | c.197A>G (p.Tyr66Cys) c.194A>G (p.Tyr65Cys) | |
12 | g.112450377A>T | CA386777697 | PTPN11 | c.197A>T (p.Tyr66Phe) c.194A>T (p.Tyr65Phe) | dbSNP |
12 | g.112450378T>A | CA386777699 | PTPN11 | c.198T>A (p.Tyr66Ter) c.195T>A (p.Tyr65Ter) | |
12 | g.112450378T>C | CA481881769 | PTPN11 | c.198T>C (p.Tyr66=) c.195T>C (p.Tyr65=) | ClinVar gnomAD v4 |
12 | g.112450378T>G | CA386777701 | PTPN11 | c.198T>G (p.Tyr66Ter) c.195T>G (p.Tyr65Ter) | |
12 | g.112450379G>A | CA386777704 | PTPN11 | c.199G>A (p.Gly67Arg) c.196G>A (p.Gly66Arg) | |
12 | g.112450379G>C | CA386777707 | PTPN11 | c.199G>C (p.Gly67Arg) c.196G>C (p.Gly66Arg) | |
12 | g.112450379G>T | CA386777711 | PTPN11 | c.199G>T (p.Gly67Ter) c.196G>T (p.Gly66Ter) | |
12 | g.112450380G>A | CA386777716 | PTPN11 | c.200G>A (p.Gly67Glu) c.197G>A (p.Gly66Glu) | dbSNP |
12 | g.112450380G>C | CA386777719 | PTPN11 | c.200G>C (p.Gly67Ala) c.197G>C (p.Gly66Ala) | dbSNP |
12 | g.112450380G>T | CA386777721 | PTPN11 | c.200G>T (p.Gly67Val) c.197G>T (p.Gly66Val) | dbSNP |
12 | g.112450381A>C | CA481881776 | PTPN11 | c.201A>C (p.Gly67=) c.198A>C (p.Gly66=) | |
12 | g.112450381A>G | CA481881777 | PTPN11 | c.201A>G (p.Gly67=) c.198A>G (p.Gly66=) | |
12 | g.112450381A>T | CA481881778 | PTPN11 | c.201A>T (p.Gly67=) c.198A>T (p.Gly66=) | dbSNP |
12 | g.112450382G>A | CA386777723 | PTPN11 | c.202G>A (p.Gly68Arg) c.199G>A (p.Gly67Arg) | dbSNP |
12 | g.112450382G>C | CA386777727 | PTPN11 | c.202G>C (p.Gly68Arg) c.199G>C (p.Gly67Arg) | dbSNP |
12 | g.112450382G>T | CA386777738 | PTPN11 | c.202G>T (p.Gly68Trp) c.199G>T (p.Gly67Trp) | dbSNP |
12 | g.112450383G>A | CA386777746 | PTPN11 | c.203G>A (p.Gly68Glu) c.200G>A (p.Gly67Glu) | dbSNP |
12 | g.112450383G>C | CA386777748 | PTPN11 | c.203G>C (p.Gly68Ala) c.200G>C (p.Gly67Ala) | dbSNP |
12 | g.112450383G>T | CA386777742 | PTPN11 | c.203G>T (p.Gly68Val) c.200G>T (p.Gly67Val) | dbSNP |
12 | g.112450383_112450384delinsCT | CA2573320621 | PTPN11 | c.203_204delinsCT (p.Gly68Ala) c.200_201delinsCT (p.Gly67Ala) | |
12 | g.112450384G>A | CA481881782 | PTPN11 | c.204G>A (p.Gly68=) c.201G>A (p.Gly67=) | dbSNP gnomAD v4 |
12 | g.112450384G>C | CA481881780 | PTPN11 | c.204G>C (p.Gly68=) c.201G>C (p.Gly67=) | dbSNP |
12 | g.112450384G>T | CA481881779 | PTPN11 | c.204G>T (p.Gly68=) c.201G>T (p.Gly67=) | dbSNP |
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 |