| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.189864380G>A | CA118335 | TP63 | c.728G>A (p.Arg243Gln) c.446G>A (p.Arg149Gln) c.191G>A (p.Arg64Gln) n.552G>A c.677G>A (p.Arg226Gln) c.725G>A (p.Arg242Gln) c.722G>A (p.Arg241Gln) c.689G>A (p.Arg230Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189864380G>C | CA355753737 | TP63 | c.728G>C (p.Arg243Pro) c.446G>C (p.Arg149Pro) c.191G>C (p.Arg64Pro) n.552G>C c.677G>C (p.Arg226Pro) c.725G>C (p.Arg242Pro) c.722G>C (p.Arg241Pro) c.689G>C (p.Arg230Pro) | |
| 3 | g.189864380G= | CA1428525455 | TP63 | c.728G= (p.Arg243=) c.446G= (p.Arg149=) c.191G= (p.Arg64=) n.552G= c.677G= (p.Arg226=) c.725G= (p.Arg242=) c.722G= (p.Arg241=) c.689G= (p.Arg230=) | |
| 3 | g.189864380G>T | CA355753738 | TP63 | c.728G>T (p.Arg243Leu) c.446G>T (p.Arg149Leu) c.191G>T (p.Arg64Leu) n.552G>T c.677G>T (p.Arg226Leu) c.725G>T (p.Arg242Leu) c.722G>T (p.Arg241Leu) c.689G>T (p.Arg230Leu) | |
| 3 | g.189864381G>A | CA89742126 | TP63 | c.729G>A (p.Arg243=) c.447G>A (p.Arg149=) c.192G>A (p.Arg64=) n.553G>A c.678G>A (p.Arg226=) c.726G>A (p.Arg242=) c.723G>A (p.Arg241=) c.690G>A (p.Arg230=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189864381G>C | CA437412961 | TP63 | c.729G>C (p.Arg243=) c.447G>C (p.Arg149=) c.192G>C (p.Arg64=) n.553G>C c.678G>C (p.Arg226=) c.726G>C (p.Arg242=) c.723G>C (p.Arg241=) c.690G>C (p.Arg230=) | |
| 3 | g.189864381G= | CA1428525456 | TP63 | c.729G= (p.Arg243=) c.447G= (p.Arg149=) c.192G= (p.Arg64=) n.553G= c.678G= (p.Arg226=) c.726G= (p.Arg242=) c.723G= (p.Arg241=) c.690G= (p.Arg230=) | |
| 3 | g.189864381G>T | CA437412962 | TP63 | c.729G>T (p.Arg243=) c.447G>T (p.Arg149=) c.192G>T (p.Arg64=) n.553G>T c.678G>T (p.Arg226=) c.726G>T (p.Arg242=) c.723G>T (p.Arg241=) c.690G>T (p.Arg230=) | dbSNP gnomAD v4 |
| 3 | g.189864382T>A | CA355753739 | TP63 | c.730T>A (p.Cys244Ser) c.448T>A (p.Cys150Ser) c.193T>A (p.Cys65Ser) n.554T>A c.679T>A (p.Cys227Ser) c.727T>A (p.Cys243Ser) c.724T>A (p.Cys242Ser) c.691T>A (p.Cys231Ser) | |
| 3 | g.189864382T>C | CA355753740 | TP63 | c.730T>C (p.Cys244Arg) c.448T>C (p.Cys150Arg) c.193T>C (p.Cys65Arg) n.554T>C c.679T>C (p.Cys227Arg) c.727T>C (p.Cys243Arg) c.724T>C (p.Cys242Arg) c.691T>C (p.Cys231Arg) | ClinVar |
| 3 | g.189864382T>G | CA355753741 | TP63 | c.730T>G (p.Cys244Gly) c.448T>G (p.Cys150Gly) c.193T>G (p.Cys65Gly) n.554T>G c.679T>G (p.Cys227Gly) c.727T>G (p.Cys243Gly) c.724T>G (p.Cys242Gly) c.691T>G (p.Cys231Gly) | |
| 3 | g.189864383G>A | CA355753746 | TP63 | c.731G>A (p.Cys244Tyr) c.449G>A (p.Cys150Tyr) c.194G>A (p.Cys65Tyr) n.555G>A c.680G>A (p.Cys227Tyr) c.728G>A (p.Cys243Tyr) c.725G>A (p.Cys242Tyr) c.692G>A (p.Cys231Tyr) | |
| 3 | g.189864383G>C | CA355753745 | TP63 | c.731G>C (p.Cys244Ser) c.449G>C (p.Cys150Ser) c.194G>C (p.Cys65Ser) n.555G>C c.680G>C (p.Cys227Ser) c.728G>C (p.Cys243Ser) c.725G>C (p.Cys242Ser) c.692G>C (p.Cys231Ser) | |
| 3 | g.189864383G>T | CA355753744 | TP63 | c.731G>T (p.Cys244Phe) c.449G>T (p.Cys150Phe) c.194G>T (p.Cys65Phe) n.555G>T c.680G>T (p.Cys227Phe) c.728G>T (p.Cys243Phe) c.725G>T (p.Cys242Phe) c.692G>T (p.Cys231Phe) | ClinVar COSMIC |
| 3 | g.189864384C>A | CA355753747 | TP63 | c.732C>A (p.Cys244Ter) c.450C>A (p.Cys150Ter) c.195C>A (p.Cys65Ter) n.556C>A c.681C>A (p.Cys227Ter) c.729C>A (p.Cys243Ter) c.726C>A (p.Cys242Ter) c.693C>A (p.Cys231Ter) | |
| 3 | g.189864384C>G | CA355753748 | TP63 | c.732C>G (p.Cys244Trp) c.450C>G (p.Cys150Trp) c.195C>G (p.Cys65Trp) n.556C>G c.681C>G (p.Cys227Trp) c.729C>G (p.Cys243Trp) c.726C>G (p.Cys242Trp) c.693C>G (p.Cys231Trp) | |
| 3 | g.189864384C>T | CA437412963 | TP63 | c.732C>T (p.Cys244=) c.450C>T (p.Cys150=) c.195C>T (p.Cys65=) n.556C>T c.681C>T (p.Cys227=) c.729C>T (p.Cys243=) c.726C>T (p.Cys242=) c.693C>T (p.Cys231=) | |
| 3 | g.189864385C>A | CA355753752 | TP63 | c.733C>A (p.Pro245Thr) c.451C>A (p.Pro151Thr) c.196C>A (p.Pro66Thr) n.557C>A c.682C>A (p.Pro228Thr) c.730C>A (p.Pro244Thr) c.727C>A (p.Pro243Thr) c.694C>A (p.Pro232Thr) | |
| 3 | g.189864385C>G | CA355753754 | TP63 | c.733C>G (p.Pro245Ala) c.451C>G (p.Pro151Ala) c.196C>G (p.Pro66Ala) n.557C>G c.682C>G (p.Pro228Ala) c.730C>G (p.Pro244Ala) c.727C>G (p.Pro243Ala) c.694C>G (p.Pro232Ala) | |
| 3 | g.189864385C>T | CA355753755 | TP63 | c.733C>T (p.Pro245Ser) c.451C>T (p.Pro151Ser) c.196C>T (p.Pro66Ser) n.557C>T c.682C>T (p.Pro228Ser) c.730C>T (p.Pro244Ser) c.727C>T (p.Pro243Ser) c.694C>T (p.Pro232Ser) | |
| 3 | g.189864386C>A | CA355753756 | TP63 | c.734C>A (p.Pro245His) c.452C>A (p.Pro151His) c.197C>A (p.Pro66His) n.558C>A c.683C>A (p.Pro228His) c.731C>A (p.Pro244His) c.728C>A (p.Pro243His) c.695C>A (p.Pro232His) | |
| 3 | g.189864386C>G | CA355753758 | TP63 | c.734C>G (p.Pro245Arg) c.452C>G (p.Pro151Arg) c.197C>G (p.Pro66Arg) n.558C>G c.683C>G (p.Pro228Arg) c.731C>G (p.Pro244Arg) c.728C>G (p.Pro243Arg) c.695C>G (p.Pro232Arg) | |
| 3 | g.189864386C>T | CA355753759 | TP63 | c.734C>T (p.Pro245Leu) c.452C>T (p.Pro151Leu) c.197C>T (p.Pro66Leu) n.558C>T c.683C>T (p.Pro228Leu) c.731C>T (p.Pro244Leu) c.728C>T (p.Pro243Leu) c.695C>T (p.Pro232Leu) | |
| 3 | g.189864387C>A | CA437412964 | TP63 | c.735C>A (p.Pro245=) c.453C>A (p.Pro151=) c.198C>A (p.Pro66=) n.559C>A c.684C>A (p.Pro228=) c.732C>A (p.Pro244=) c.729C>A (p.Pro243=) c.696C>A (p.Pro232=) | |
| 3 | g.189864387C>G | CA437412965 | TP63 | c.735C>G (p.Pro245=) c.453C>G (p.Pro151=) c.198C>G (p.Pro66=) n.559C>G c.684C>G (p.Pro228=) c.732C>G (p.Pro244=) c.729C>G (p.Pro243=) c.696C>G (p.Pro232=) | |
| 3 | g.189864387C>T | CA437412966 | TP63 | c.735C>T (p.Pro245=) c.453C>T (p.Pro151=) c.198C>T (p.Pro66=) n.559C>T c.684C>T (p.Pro228=) c.732C>T (p.Pro244=) c.729C>T (p.Pro243=) c.696C>T (p.Pro232=) | |
| 3 | g.189864388A>C | CA355753761 | TP63 | c.736A>C (p.Asn246His) c.454A>C (p.Asn152His) c.199A>C (p.Asn67His) n.560A>C c.685A>C (p.Asn229His) c.733A>C (p.Asn245His) c.730A>C (p.Asn244His) c.697A>C (p.Asn233His) | |
| 3 | g.189864388A>G | CA355753762 | TP63 | c.736A>G (p.Asn246Asp) c.454A>G (p.Asn152Asp) c.199A>G (p.Asn67Asp) n.560A>G c.685A>G (p.Asn229Asp) c.733A>G (p.Asn245Asp) c.730A>G (p.Asn244Asp) c.697A>G (p.Asn233Asp) | ClinVar |
| 3 | g.189864388A>T | CA355753763 | TP63 | c.736A>T (p.Asn246Tyr) c.454A>T (p.Asn152Tyr) c.199A>T (p.Asn67Tyr) n.560A>T c.685A>T (p.Asn229Tyr) c.733A>T (p.Asn245Tyr) c.730A>T (p.Asn244Tyr) c.697A>T (p.Asn233Tyr) | |
| 3 | g.189864389A>C | CA355753764 | TP63 | c.737A>C (p.Asn246Thr) c.455A>C (p.Asn152Thr) c.200A>C (p.Asn67Thr) n.561A>C c.686A>C (p.Asn229Thr) c.734A>C (p.Asn245Thr) c.731A>C (p.Asn244Thr) c.698A>C (p.Asn233Thr) | |
| 3 | g.189864389A>G | CA355753765 | TP63 | c.737A>G (p.Asn246Ser) c.455A>G (p.Asn152Ser) c.200A>G (p.Asn67Ser) n.561A>G c.686A>G (p.Asn229Ser) c.734A>G (p.Asn245Ser) c.731A>G (p.Asn244Ser) c.698A>G (p.Asn233Ser) | |
| 3 | g.189864389A>T | CA355753767 | TP63 | c.737A>T (p.Asn246Ile) c.455A>T (p.Asn152Ile) c.200A>T (p.Asn67Ile) n.561A>T c.686A>T (p.Asn229Ile) c.734A>T (p.Asn245Ile) c.731A>T (p.Asn244Ile) c.698A>T (p.Asn233Ile) | |
| 3 | g.189864390C>A | CA355753770 | TP63 | c.738C>A (p.Asn246Lys) c.456C>A (p.Asn152Lys) c.201C>A (p.Asn67Lys) n.562C>A c.687C>A (p.Asn229Lys) c.735C>A (p.Asn245Lys) c.732C>A (p.Asn244Lys) c.699C>A (p.Asn233Lys) | |
| 3 | g.189864390C= | CA1428525457 | TP63 | c.738C= (p.Asn246=) c.456C= (p.Asn152=) c.201C= (p.Asn67=) n.562C= c.687C= (p.Asn229=) c.735C= (p.Asn245=) c.732C= (p.Asn244=) c.699C= (p.Asn233=) | |
| 3 | g.189864390C>G | CA355753768 | TP63 | c.738C>G (p.Asn246Lys) c.456C>G (p.Asn152Lys) c.201C>G (p.Asn67Lys) n.562C>G c.687C>G (p.Asn229Lys) c.735C>G (p.Asn245Lys) c.732C>G (p.Asn244Lys) c.699C>G (p.Asn233Lys) | ClinVar dbSNP |
| 3 | g.189864390C>T | CA437412967 | TP63 | c.738C>T (p.Asn246=) c.456C>T (p.Asn152=) c.201C>T (p.Asn67=) n.562C>T c.687C>T (p.Asn229=) c.735C>T (p.Asn245=) c.732C>T (p.Asn244=) c.699C>T (p.Asn233=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189864391C>A | CA355753771 | TP63 | c.739C>A (p.His247Asn) c.457C>A (p.His153Asn) c.202C>A (p.His68Asn) n.563C>A c.688C>A (p.His230Asn) c.736C>A (p.His246Asn) c.733C>A (p.His245Asn) c.700C>A (p.His234Asn) | |
| 3 | g.189864391C= | CA1428489406 | TP63 | c.739C= (p.His247=) c.457C= (p.His153=) c.202C= (p.His68=) n.563C= c.688C= (p.His230=) c.736C= (p.His246=) c.733C= (p.His245=) c.700C= (p.His234=) | |
| 3 | g.189864391C>G | CA355753775 | TP63 | c.739C>G (p.His247Asp) c.457C>G (p.His153Asp) c.202C>G (p.His68Asp) n.563C>G c.688C>G (p.His230Asp) c.736C>G (p.His246Asp) c.733C>G (p.His245Asp) c.700C>G (p.His234Asp) | ClinVar |
| 3 | g.189864391C>T | CA355753773 | TP63 | c.739C>T (p.His247Tyr) c.457C>T (p.His153Tyr) c.202C>T (p.His68Tyr) n.563C>T c.688C>T (p.His230Tyr) c.736C>T (p.His246Tyr) c.733C>T (p.His245Tyr) c.700C>T (p.His234Tyr) | ClinVar dbSNP |
| 3 | g.189864392A= | CA1428489417 | TP63 | c.740A= (p.His247=) c.458A= (p.His153=) c.203A= (p.His68=) n.564A= c.689A= (p.His230=) c.737A= (p.His246=) c.734A= (p.His245=) c.701A= (p.His234=) | |
| 3 | g.189864392A>C | CA355753777 | TP63 | c.740A>C (p.His247Pro) c.458A>C (p.His153Pro) c.203A>C (p.His68Pro) n.564A>C c.689A>C (p.His230Pro) c.737A>C (p.His246Pro) c.734A>C (p.His245Pro) c.701A>C (p.His234Pro) | |
| 3 | g.189864392A>G | CA339766 | TP63 | c.740A>G (p.His247Arg) c.458A>G (p.His153Arg) c.203A>G (p.His68Arg) n.564A>G c.689A>G (p.His230Arg) c.737A>G (p.His246Arg) c.734A>G (p.His245Arg) c.701A>G (p.His234Arg) | ClinVar dbSNP |
| 3 | g.189864392A>T | CA355753778 | TP63 | c.740A>T (p.His247Leu) c.458A>T (p.His153Leu) c.203A>T (p.His68Leu) n.564A>T c.689A>T (p.His230Leu) c.737A>T (p.His246Leu) c.734A>T (p.His245Leu) c.701A>T (p.His234Leu) | |
| 3 | g.189864393T>A | CA355753781 | TP63 | c.741T>A (p.His247Gln) c.459T>A (p.His153Gln) c.204T>A (p.His68Gln) n.565T>A c.690T>A (p.His230Gln) c.738T>A (p.His246Gln) c.735T>A (p.His245Gln) c.702T>A (p.His234Gln) | |
| 3 | g.189864393T>C | CA437412969 | TP63 | c.741T>C (p.His247=) c.459T>C (p.His153=) c.204T>C (p.His68=) n.565T>C c.690T>C (p.His230=) c.738T>C (p.His246=) c.735T>C (p.His245=) c.702T>C (p.His234=) | |
| 3 | g.189864393T>G | CA355753782 | TP63 | c.741T>G (p.His247Gln) c.459T>G (p.His153Gln) c.204T>G (p.His68Gln) n.565T>G c.690T>G (p.His230Gln) c.738T>G (p.His246Gln) c.735T>G (p.His245Gln) c.702T>G (p.His234Gln) | |
| 3 | g.189864394G>A | CA355753785 | TP63 | c.742G>A (p.Glu248Lys) c.460G>A (p.Glu154Lys) c.205G>A (p.Glu69Lys) n.566G>A c.691G>A (p.Glu231Lys) c.739G>A (p.Glu247Lys) c.736G>A (p.Glu246Lys) c.703G>A (p.Glu235Lys) | gnomAD v4 |
| 3 | g.189864394G>C | CA355753788 | TP63 | c.742G>C (p.Glu248Gln) c.460G>C (p.Glu154Gln) c.205G>C (p.Glu69Gln) n.566G>C c.691G>C (p.Glu231Gln) c.739G>C (p.Glu247Gln) c.736G>C (p.Glu246Gln) c.703G>C (p.Glu235Gln) | |
| 3 | g.189864394G>T | CA355753786 | TP63 | c.742G>T (p.Glu248Ter) c.460G>T (p.Glu154Ter) c.205G>T (p.Glu69Ter) n.566G>T c.691G>T (p.Glu231Ter) c.739G>T (p.Glu247Ter) c.736G>T (p.Glu246Ter) c.703G>T (p.Glu235Ter) |