Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.10404511C>A | CA362701144 | TFAP2A,TFAP2A-AS2 | c.743G>T (p.Arg248Leu) c.767G>T (p.Arg256Leu) c.*258G>T (n.*258G>T) c.332G>T (p.Arg111Leu) c.749G>T (p.Arg250Leu) c.84G>T c.761G>T (p.Arg254Leu) c.475G>T n.761G>T n.732G>T c.896G>T (p.Arg299Leu) c.611G>T (p.Arg204Leu) n.10C>A c.1007G>T (p.Arg336Leu) | |
6 | g.10404511C= | CA1609976721 | TFAP2A,TFAP2A-AS2 | c.743G= (p.Arg248=) c.767G= (p.Arg256=) c.*258G= (n.*258G=) c.332G= (p.Arg111=) c.749G= (p.Arg250=) c.84G= c.761G= (p.Arg254=) c.475G= n.761G= n.732G= c.896G= (p.Arg299=) c.611G= (p.Arg204=) n.10C= c.1007G= (p.Arg336=) | |
6 | g.10404511C>G | CA134048995 | TFAP2A,TFAP2A-AS2 | c.743G>C (p.Arg248Pro) c.767G>C (p.Arg256Pro) c.*258G>C (n.*258G>C) c.332G>C (p.Arg111Pro) c.749G>C (p.Arg250Pro) c.84G>C c.761G>C (p.Arg254Pro) c.475G>C n.761G>C n.732G>C c.896G>C (p.Arg299Pro) c.611G>C (p.Arg204Pro) n.10C>G c.1007G>C (p.Arg336Pro) | dbSNP |
6 | g.10404511C>T | CA362701145 | TFAP2A,TFAP2A-AS2 | c.743G>A (p.Arg248Gln) c.767G>A (p.Arg256Gln) c.*258G>A (n.*258G>A) c.332G>A (p.Arg111Gln) c.749G>A (p.Arg250Gln) c.84G>A c.761G>A (p.Arg254Gln) c.475G>A n.761G>A n.732G>A c.896G>A (p.Arg299Gln) c.611G>A (p.Arg204Gln) n.10C>T c.1007G>A (p.Arg336Gln) | ClinVar dbSNP |
6 | g.10404512G>A | CA134048998 | TFAP2A,TFAP2A-AS2 | c.742C>T (p.Arg248Trp) c.766C>T (p.Arg256Trp) c.*257C>T (n.*257C>T) c.331C>T (p.Arg111Trp) c.748C>T (p.Arg250Trp) c.83C>T c.760C>T (p.Arg254Trp) c.474C>T n.760C>T n.731C>T c.895C>T (p.Arg299Trp) c.610C>T (p.Arg204Trp) n.11G>A c.1006C>T (p.Arg336Trp) | ClinVar dbSNP |
6 | g.10404512G>C | CA134048999 | TFAP2A,TFAP2A-AS2 | c.742C>G (p.Arg248Gly) c.766C>G (p.Arg256Gly) c.*257C>G (n.*257C>G) c.331C>G (p.Arg111Gly) c.748C>G (p.Arg250Gly) c.83C>G c.760C>G (p.Arg254Gly) c.474C>G n.760C>G n.731C>G c.895C>G (p.Arg299Gly) c.610C>G (p.Arg204Gly) n.11G>C c.1006C>G (p.Arg336Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404512G= | CA1609976722 | TFAP2A,TFAP2A-AS2 | c.742C= (p.Arg248=) c.766C= (p.Arg256=) c.*257C= (n.*257C=) c.331C= (p.Arg111=) c.748C= (p.Arg250=) c.83C= c.760C= (p.Arg254=) c.474C= n.760C= n.731C= c.895C= (p.Arg299=) c.610C= (p.Arg204=) n.11G= c.1006C= (p.Arg336=) | |
6 | g.10404512G>T | CA448717438 | TFAP2A,TFAP2A-AS2 | c.742C>A (p.Arg248=) c.766C>A (p.Arg256=) c.*257C>A (n.*257C>A) c.331C>A (p.Arg111=) c.748C>A (p.Arg250=) c.83C>A c.760C>A (p.Arg254=) c.474C>A n.760C>A n.731C>A c.895C>A (p.Arg299=) c.610C>A (p.Arg204=) n.11G>T c.1006C>A (p.Arg336=) | |
6 | g.10404513G>A | CA3631261 | TFAP2A,TFAP2A-AS2 | c.741C>T (p.Leu247=) c.765C>T (p.Leu255=) c.*256C>T (n.*256C>T) c.330C>T (p.Leu110=) c.747C>T (p.Leu249=) c.82C>T c.759C>T (p.Leu253=) c.473C>T n.759C>T n.730C>T c.894C>T (p.Leu298=) c.609C>T (p.Leu203=) n.12G>A c.1005C>T (p.Leu335=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404513G>C | CA3631262 | TFAP2A,TFAP2A-AS2 | c.741C>G (p.Leu247=) c.765C>G (p.Leu255=) c.*256C>G (n.*256C>G) c.330C>G (p.Leu110=) c.747C>G (p.Leu249=) c.82C>G c.759C>G (p.Leu253=) c.473C>G n.759C>G n.730C>G c.894C>G (p.Leu298=) c.609C>G (p.Leu203=) n.12G>C c.1005C>G (p.Leu335=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.10404513G= | CA1609976723 | TFAP2A,TFAP2A-AS2 | c.741C= (p.Leu247=) c.765C= (p.Leu255=) c.*256C= (n.*256C=) c.330C= (p.Leu110=) c.747C= (p.Leu249=) c.82C= c.759C= (p.Leu253=) c.473C= n.759C= n.730C= c.894C= (p.Leu298=) c.609C= (p.Leu203=) n.12G= c.1005C= (p.Leu335=) | |
6 | g.10404513G>T | CA448717441 | TFAP2A,TFAP2A-AS2 | c.741C>A (p.Leu247=) c.765C>A (p.Leu255=) c.*256C>A (n.*256C>A) c.330C>A (p.Leu110=) c.747C>A (p.Leu249=) c.82C>A c.759C>A (p.Leu253=) c.473C>A n.759C>A n.730C>A c.894C>A (p.Leu298=) c.609C>A (p.Leu203=) n.12G>T c.1005C>A (p.Leu335=) | |
6 | g.10404514A>C | CA362701146 | TFAP2A,TFAP2A-AS2 | c.740T>G (p.Leu247Arg) c.764T>G (p.Leu255Arg) c.*255T>G (n.*255T>G) c.329T>G (p.Leu110Arg) c.746T>G (p.Leu249Arg) c.81T>G c.758T>G (p.Leu253Arg) c.472T>G n.758T>G n.729T>G c.893T>G (p.Leu298Arg) c.608T>G (p.Leu203Arg) n.13A>C c.1004T>G (p.Leu335Arg) | |
6 | g.10404514A>G | CA362701147 | TFAP2A,TFAP2A-AS2 | c.740T>C (p.Leu247Pro) c.764T>C (p.Leu255Pro) c.*255T>C (n.*255T>C) c.329T>C (p.Leu110Pro) c.746T>C (p.Leu249Pro) c.81T>C c.758T>C (p.Leu253Pro) c.472T>C n.758T>C n.729T>C c.893T>C (p.Leu298Pro) c.608T>C (p.Leu203Pro) n.13A>G c.1004T>C (p.Leu335Pro) | |
6 | g.10404514A>T | CA362701148 | TFAP2A,TFAP2A-AS2 | c.740T>A (p.Leu247His) c.764T>A (p.Leu255His) c.*255T>A (n.*255T>A) c.329T>A (p.Leu110His) c.746T>A (p.Leu249His) c.81T>A c.758T>A (p.Leu253His) c.472T>A n.758T>A n.729T>A c.893T>A (p.Leu298His) c.608T>A (p.Leu203His) n.13A>T c.1004T>A (p.Leu335His) | |
6 | g.10404515G>A | CA362701149 | TFAP2A,TFAP2A-AS2 | c.739C>T (p.Leu247Phe) c.763C>T (p.Leu255Phe) c.*254C>T (n.*254C>T) c.328C>T (p.Leu110Phe) c.745C>T (p.Leu249Phe) c.80C>T c.757C>T (p.Leu253Phe) c.471C>T n.757C>T n.728C>T c.892C>T (p.Leu298Phe) c.607C>T (p.Leu203Phe) n.14G>A c.1003C>T (p.Leu335Phe) | gnomAD v4 |
6 | g.10404515G>C | CA362701150 | TFAP2A,TFAP2A-AS2 | c.739C>G (p.Leu247Val) c.763C>G (p.Leu255Val) c.*254C>G (n.*254C>G) c.328C>G (p.Leu110Val) c.745C>G (p.Leu249Val) c.80C>G c.757C>G (p.Leu253Val) c.471C>G n.757C>G n.728C>G c.892C>G (p.Leu298Val) c.607C>G (p.Leu203Val) n.14G>C c.1003C>G (p.Leu335Val) | gnomAD v4 |
6 | g.10404515G>T | CA362701151 | TFAP2A,TFAP2A-AS2 | c.739C>A (p.Leu247Ile) c.763C>A (p.Leu255Ile) c.*254C>A (n.*254C>A) c.328C>A (p.Leu110Ile) c.745C>A (p.Leu249Ile) c.80C>A c.757C>A (p.Leu253Ile) c.471C>A n.757C>A n.728C>A c.892C>A (p.Leu298Ile) c.607C>A (p.Leu203Ile) n.14G>T c.1003C>A (p.Leu335Ile) | gnomAD v4 |
6 | g.10404516C>A | CA448717443 | TFAP2A,TFAP2A-AS2 | c.738G>T (p.Val246=) c.762G>T (p.Val254=) c.*253G>T (n.*253G>T) c.327G>T (p.Val109=) c.744G>T (p.Val248=) c.79G>T c.756G>T (p.Val252=) c.470G>T n.756G>T n.727G>T c.891G>T (p.Val297=) c.606G>T (p.Val202=) n.15C>A c.1002G>T (p.Val334=) | gnomAD v4 |
6 | g.10404516C>G | CA448717445 | TFAP2A,TFAP2A-AS2 | c.738G>C (p.Val246=) c.762G>C (p.Val254=) c.*253G>C (n.*253G>C) c.327G>C (p.Val109=) c.744G>C (p.Val248=) c.79G>C c.756G>C (p.Val252=) c.470G>C n.756G>C n.727G>C c.891G>C (p.Val297=) c.606G>C (p.Val202=) n.15C>G c.1002G>C (p.Val334=) | |
6 | g.10404516C>T | CA448717446 | TFAP2A,TFAP2A-AS2 | c.738G>A (p.Val246=) c.762G>A (p.Val254=) c.*253G>A (n.*253G>A) c.327G>A (p.Val109=) c.744G>A (p.Val248=) c.79G>A c.756G>A (p.Val252=) c.470G>A n.756G>A n.727G>A c.891G>A (p.Val297=) c.606G>A (p.Val202=) n.15C>T c.1002G>A (p.Val334=) | gnomAD v4 COSMIC COSMIC COSMIC |
6 | g.10404517A>C | CA362701153 | TFAP2A,TFAP2A-AS2 | c.737T>G (p.Val246Gly) c.761T>G (p.Val254Gly) c.*252T>G (n.*252T>G) c.326T>G (p.Val109Gly) c.743T>G (p.Val248Gly) c.78T>G c.755T>G (p.Val252Gly) c.469T>G n.755T>G n.726T>G c.890T>G (p.Val297Gly) c.605T>G (p.Val202Gly) n.16A>C c.1001T>G (p.Val334Gly) | |
6 | g.10404517A>G | CA362701154 | TFAP2A,TFAP2A-AS2 | c.737T>C (p.Val246Ala) c.761T>C (p.Val254Ala) c.*252T>C (n.*252T>C) c.326T>C (p.Val109Ala) c.743T>C (p.Val248Ala) c.78T>C c.755T>C (p.Val252Ala) c.469T>C n.755T>C n.726T>C c.890T>C (p.Val297Ala) c.605T>C (p.Val202Ala) n.16A>G c.1001T>C (p.Val334Ala) | |
6 | g.10404517A>T | CA362701152 | TFAP2A,TFAP2A-AS2 | c.737T>A (p.Val246Glu) c.761T>A (p.Val254Glu) c.*252T>A (n.*252T>A) c.326T>A (p.Val109Glu) c.743T>A (p.Val248Glu) c.78T>A c.755T>A (p.Val252Glu) c.469T>A n.755T>A n.726T>A c.890T>A (p.Val297Glu) c.605T>A (p.Val202Glu) n.16A>T c.1001T>A (p.Val334Glu) | |
6 | g.10404518C>A | CA362701155 | TFAP2A,TFAP2A-AS2 | c.736G>T (p.Val246Leu) c.760G>T (p.Val254Leu) c.*251G>T (n.*251G>T) c.325G>T (p.Val109Leu) c.742G>T (p.Val248Leu) c.77G>T c.754G>T (p.Val252Leu) c.468G>T n.754G>T n.725G>T c.889G>T (p.Val297Leu) c.604G>T (p.Val202Leu) n.17C>A c.1000G>T (p.Val334Leu) | |
6 | g.10404518C>G | CA362701156 | TFAP2A,TFAP2A-AS2 | c.736G>C (p.Val246Leu) c.760G>C (p.Val254Leu) c.*251G>C (n.*251G>C) c.325G>C (p.Val109Leu) c.742G>C (p.Val248Leu) c.77G>C c.754G>C (p.Val252Leu) c.468G>C n.754G>C n.725G>C c.889G>C (p.Val297Leu) c.604G>C (p.Val202Leu) n.17C>G c.1000G>C (p.Val334Leu) | |
6 | g.10404518C>T | CA362701157 | TFAP2A,TFAP2A-AS2 | c.736G>A (p.Val246Met) c.760G>A (p.Val254Met) c.*251G>A (n.*251G>A) c.325G>A (p.Val109Met) c.742G>A (p.Val248Met) c.77G>A c.754G>A (p.Val252Met) c.468G>A n.754G>A n.725G>A c.889G>A (p.Val297Met) c.604G>A (p.Val202Met) n.17C>T c.1000G>A (p.Val334Met) | |
6 | g.10404519T>A | CA448717449 | TFAP2A,TFAP2A-AS2 | c.735A>T (p.Gly245=) c.759A>T (p.Gly253=) c.*250A>T (n.*250A>T) c.324A>T (p.Gly108=) c.741A>T (p.Gly247=) c.76A>T c.753A>T (p.Gly251=) c.467A>T n.753A>T n.724A>T c.888A>T (p.Gly296=) c.603A>T (p.Gly201=) n.18T>A c.999A>T (p.Gly333=) | |
6 | g.10404519T>C | CA448717447 | TFAP2A,TFAP2A-AS2 | c.735A>G (p.Gly245=) c.759A>G (p.Gly253=) c.*250A>G (n.*250A>G) c.324A>G (p.Gly108=) c.741A>G (p.Gly247=) c.76A>G c.753A>G (p.Gly251=) c.467A>G n.753A>G n.724A>G c.888A>G (p.Gly296=) c.603A>G (p.Gly201=) n.18T>C c.999A>G (p.Gly333=) | dbSNP |
6 | g.10404519T>G | CA448717448 | TFAP2A,TFAP2A-AS2 | c.735A>C (p.Gly245=) c.759A>C (p.Gly253=) c.*250A>C (n.*250A>C) c.324A>C (p.Gly108=) c.741A>C (p.Gly247=) c.76A>C c.753A>C (p.Gly251=) c.467A>C n.753A>C n.724A>C c.888A>C (p.Gly296=) c.603A>C (p.Gly201=) n.18T>G c.999A>C (p.Gly333=) | |
6 | g.10404520C>A | CA362701158 | TFAP2A,TFAP2A-AS2 | c.734G>T (p.Gly245Val) c.758G>T (p.Gly253Val) c.*249G>T (n.*249G>T) c.323G>T (p.Gly108Val) c.740G>T (p.Gly247Val) c.75G>T c.752G>T (p.Gly251Val) c.466G>T n.752G>T n.723G>T c.887G>T (p.Gly296Val) c.602G>T (p.Gly201Val) n.19C>A c.998G>T (p.Gly333Val) | gnomAD v4 |
6 | g.10404520C= | CA1609976724 | TFAP2A,TFAP2A-AS2 | c.734G= (p.Gly245=) c.758G= (p.Gly253=) c.*249G= (n.*249G=) c.323G= (p.Gly108=) c.740G= (p.Gly247=) c.75G= c.752G= (p.Gly251=) c.466G= n.752G= n.723G= c.887G= (p.Gly296=) c.602G= (p.Gly201=) n.19C= c.998G= (p.Gly333=) | |
6 | g.10404520C>G | CA362701159 | TFAP2A,TFAP2A-AS2 | c.734G>C (p.Gly245Ala) c.758G>C (p.Gly253Ala) c.*249G>C (n.*249G>C) c.323G>C (p.Gly108Ala) c.740G>C (p.Gly247Ala) c.75G>C c.752G>C (p.Gly251Ala) c.466G>C n.752G>C n.723G>C c.887G>C (p.Gly296Ala) c.602G>C (p.Gly201Ala) n.19C>G c.998G>C (p.Gly333Ala) | |
6 | g.10404520C>T | CA134049023 | TFAP2A,TFAP2A-AS2 | c.734G>A (p.Gly245Glu) c.758G>A (p.Gly253Glu) c.*249G>A (n.*249G>A) c.323G>A (p.Gly108Glu) c.740G>A (p.Gly247Glu) c.75G>A c.752G>A (p.Gly251Glu) c.466G>A n.752G>A n.723G>A c.887G>A (p.Gly296Glu) c.602G>A (p.Gly201Glu) n.19C>T c.998G>A (p.Gly333Glu) | ClinVar dbSNP |
6 | g.10404521C>A | CA362701160 | TFAP2A,TFAP2A-AS2 | c.733G>T (p.Gly245Ter) c.757G>T (p.Gly253Ter) c.*248G>T (n.*248G>T) c.322G>T (p.Gly108Ter) c.739G>T (p.Gly247Ter) c.74G>T c.751G>T (p.Gly251Ter) c.465G>T n.751G>T n.722G>T c.886G>T (p.Gly296Ter) c.601G>T (p.Gly201Ter) n.20C>A c.997G>T (p.Gly333Ter) | gnomAD v4 |
6 | g.10404521C>G | CA362701161 | TFAP2A,TFAP2A-AS2 | c.733G>C (p.Gly245Arg) c.757G>C (p.Gly253Arg) c.*248G>C (n.*248G>C) c.322G>C (p.Gly108Arg) c.739G>C (p.Gly247Arg) c.74G>C c.751G>C (p.Gly251Arg) c.465G>C n.751G>C n.722G>C c.886G>C (p.Gly296Arg) c.601G>C (p.Gly201Arg) n.20C>G c.997G>C (p.Gly333Arg) | |
6 | g.10404521C>T | CA362701162 | TFAP2A,TFAP2A-AS2 | c.733G>A (p.Gly245Arg) c.757G>A (p.Gly253Arg) c.*248G>A (n.*248G>A) c.322G>A (p.Gly108Arg) c.739G>A (p.Gly247Arg) c.74G>A c.751G>A (p.Gly251Arg) c.465G>A n.751G>A n.722G>A c.886G>A (p.Gly296Arg) c.601G>A (p.Gly201Arg) n.20C>T c.997G>A (p.Gly333Arg) | gnomAD v4 |
6 | g.10404522G>A | CA448717451 | TFAP2A,TFAP2A-AS2 | c.732C>T (p.Gly244=) c.756C>T (p.Gly252=) c.*247C>T (n.*247C>T) c.321C>T (p.Gly107=) c.738C>T (p.Gly246=) c.73C>T c.750C>T (p.Gly250=) c.464C>T n.750C>T n.721C>T c.885C>T (p.Gly295=) c.600C>T (p.Gly200=) n.21G>A c.996C>T (p.Gly332=) | |
6 | g.10404522G>C | CA448717452 | TFAP2A,TFAP2A-AS2 | c.732C>G (p.Gly244=) c.756C>G (p.Gly252=) c.*247C>G (n.*247C>G) c.321C>G (p.Gly107=) c.738C>G (p.Gly246=) c.73C>G c.750C>G (p.Gly250=) c.464C>G n.750C>G n.721C>G c.885C>G (p.Gly295=) c.600C>G (p.Gly200=) n.21G>C c.996C>G (p.Gly332=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404522G= | CA1609976725 | TFAP2A,TFAP2A-AS2 | c.732C= (p.Gly244=) c.756C= (p.Gly252=) c.*247C= (n.*247C=) c.321C= (p.Gly107=) c.738C= (p.Gly246=) c.73C= c.750C= (p.Gly250=) c.464C= n.750C= n.721C= c.885C= (p.Gly295=) c.600C= (p.Gly200=) n.21G= c.996C= (p.Gly332=) | |
6 | g.10404522G>T | CA448717453 | TFAP2A,TFAP2A-AS2 | c.732C>A (p.Gly244=) c.756C>A (p.Gly252=) c.*247C>A (n.*247C>A) c.321C>A (p.Gly107=) c.738C>A (p.Gly246=) c.73C>A c.750C>A (p.Gly250=) c.464C>A n.750C>A n.721C>A c.885C>A (p.Gly295=) c.600C>A (p.Gly200=) n.21G>T c.996C>A (p.Gly332=) | gnomAD v4 |
6 | g.10404523C>A | CA362701163 | TFAP2A,TFAP2A-AS2 | c.731G>T (p.Gly244Val) c.755G>T (p.Gly252Val) c.*246G>T (n.*246G>T) c.320G>T (p.Gly107Val) c.737G>T (p.Gly246Val) c.72G>T c.749G>T (p.Gly250Val) c.463G>T n.749G>T n.720G>T c.884G>T (p.Gly295Val) c.599G>T (p.Gly200Val) n.22C>A c.995G>T (p.Gly332Val) | |
6 | g.10404523C= | CA1609976726 | TFAP2A,TFAP2A-AS2 | c.731G= (p.Gly244=) c.755G= (p.Gly252=) c.*246G= (n.*246G=) c.320G= (p.Gly107=) c.737G= (p.Gly246=) c.72G= c.749G= (p.Gly250=) c.463G= n.749G= n.720G= c.884G= (p.Gly295=) c.599G= (p.Gly200=) n.22C= c.995G= (p.Gly332=) | |
6 | g.10404523C>G | CA362701164 | TFAP2A,TFAP2A-AS2 | c.731G>C (p.Gly244Ala) c.755G>C (p.Gly252Ala) c.*246G>C (n.*246G>C) c.320G>C (p.Gly107Ala) c.737G>C (p.Gly246Ala) c.72G>C c.749G>C (p.Gly250Ala) c.463G>C n.749G>C n.720G>C c.884G>C (p.Gly295Ala) c.599G>C (p.Gly200Ala) n.22C>G c.995G>C (p.Gly332Ala) | |
6 | g.10404523C>T | CA362701165 | TFAP2A,TFAP2A-AS2 | c.731G>A (p.Gly244Asp) c.755G>A (p.Gly252Asp) c.*246G>A (n.*246G>A) c.320G>A (p.Gly107Asp) c.737G>A (p.Gly246Asp) c.72G>A c.749G>A (p.Gly250Asp) c.463G>A n.749G>A n.720G>A c.884G>A (p.Gly295Asp) c.599G>A (p.Gly200Asp) n.22C>T c.995G>A (p.Gly332Asp) | ClinVar dbSNP |
6 | g.10404524C>A | CA362701166 | TFAP2A,TFAP2A-AS2 | c.730G>T (p.Gly244Cys) c.754G>T (p.Gly252Cys) c.*245G>T (n.*245G>T) c.319G>T (p.Gly107Cys) c.736G>T (p.Gly246Cys) c.71G>T c.748G>T (p.Gly250Cys) c.462G>T n.748G>T n.719G>T c.883G>T (p.Gly295Cys) c.598G>T (p.Gly200Cys) n.23C>A c.994G>T (p.Gly332Cys) | ClinVar gnomAD v4 |
6 | g.10404524C= | CA1609976727 | TFAP2A,TFAP2A-AS2 | c.730G= (p.Gly244=) c.754G= (p.Gly252=) c.*245G= (n.*245G=) c.319G= (p.Gly107=) c.736G= (p.Gly246=) c.71G= c.748G= (p.Gly250=) c.462G= n.748G= n.719G= c.883G= (p.Gly295=) c.598G= (p.Gly200=) n.23C= c.994G= (p.Gly332=) | |
6 | g.10404524C>G | CA362701167 | TFAP2A,TFAP2A-AS2 | c.730G>C (p.Gly244Arg) c.754G>C (p.Gly252Arg) c.*245G>C (n.*245G>C) c.319G>C (p.Gly107Arg) c.736G>C (p.Gly246Arg) c.71G>C c.748G>C (p.Gly250Arg) c.462G>C n.748G>C n.719G>C c.883G>C (p.Gly295Arg) c.598G>C (p.Gly200Arg) n.23C>G c.994G>C (p.Gly332Arg) | |
6 | g.10404524C>T | CA134049026 | TFAP2A,TFAP2A-AS2 | c.730G>A (p.Gly244Ser) c.754G>A (p.Gly252Ser) c.*245G>A (n.*245G>A) c.319G>A (p.Gly107Ser) c.736G>A (p.Gly246Ser) c.71G>A c.748G>A (p.Gly250Ser) c.462G>A n.748G>A n.719G>A c.883G>A (p.Gly295Ser) c.598G>A (p.Gly200Ser) n.23C>T c.994G>A (p.Gly332Ser) | dbSNP |
6 | g.10404525C>A | CA448717457 | TFAP2A,TFAP2A-AS2 | c.729G>T (p.Leu243=) c.753G>T (p.Leu251=) c.*244G>T (n.*244G>T) c.318G>T (p.Leu106=) c.735G>T (p.Leu245=) c.70G>T c.747G>T (p.Leu249=) c.461G>T n.747G>T n.718G>T c.882G>T (p.Leu294=) c.597G>T (p.Leu199=) n.24C>A c.993G>T (p.Leu331=) | |
6 | g.10404525C>G | CA448717455 | TFAP2A,TFAP2A-AS2 | c.729G>C (p.Leu243=) c.753G>C (p.Leu251=) c.*244G>C (n.*244G>C) c.318G>C (p.Leu106=) c.735G>C (p.Leu245=) c.70G>C c.747G>C (p.Leu249=) c.461G>C n.747G>C n.718G>C c.882G>C (p.Leu294=) c.597G>C (p.Leu199=) n.24C>G c.993G>C (p.Leu331=) | |
6 | g.10404525C>T | CA448717456 | TFAP2A,TFAP2A-AS2 | c.729G>A (p.Leu243=) c.753G>A (p.Leu251=) c.*244G>A (n.*244G>A) c.318G>A (p.Leu106=) c.735G>A (p.Leu245=) c.70G>A c.747G>A (p.Leu249=) c.461G>A n.747G>A n.718G>A c.882G>A (p.Leu294=) c.597G>A (p.Leu199=) n.24C>T c.993G>A (p.Leu331=) | |
6 | g.10404526A= | CA1609976728 | TFAP2A,TFAP2A-AS2 | c.728T= (p.Leu243=) c.752T= (p.Leu251=) c.*243T= (n.*243T=) c.317T= (p.Leu106=) c.734T= (p.Leu245=) c.69T= c.746T= (p.Leu249=) c.460T= n.746T= n.717T= c.881T= (p.Leu294=) c.596T= (p.Leu199=) n.25A= c.992T= (p.Leu331=) | |
6 | g.10404526A>C | CA362701168 | TFAP2A,TFAP2A-AS2 | c.728T>G (p.Leu243Arg) c.752T>G (p.Leu251Arg) c.*243T>G (n.*243T>G) c.317T>G (p.Leu106Arg) c.734T>G (p.Leu245Arg) c.69T>G c.746T>G (p.Leu249Arg) c.460T>G n.746T>G n.717T>G c.881T>G (p.Leu294Arg) c.596T>G (p.Leu199Arg) n.25A>C c.992T>G (p.Leu331Arg) | ClinVar |
6 | g.10404526A>G | CA362701169 | TFAP2A,TFAP2A-AS2 | c.728T>C (p.Leu243Pro) c.752T>C (p.Leu251Pro) c.*243T>C (n.*243T>C) c.317T>C (p.Leu106Pro) c.734T>C (p.Leu245Pro) c.69T>C c.746T>C (p.Leu249Pro) c.460T>C n.746T>C n.717T>C c.881T>C (p.Leu294Pro) c.596T>C (p.Leu199Pro) n.25A>G c.992T>C (p.Leu331Pro) | ClinVar dbSNP |
6 | g.10404526A>T | CA362701170 | TFAP2A,TFAP2A-AS2 | c.728T>A (p.Leu243Gln) c.752T>A (p.Leu251Gln) c.*243T>A (n.*243T>A) c.317T>A (p.Leu106Gln) c.734T>A (p.Leu245Gln) c.69T>A c.746T>A (p.Leu249Gln) c.460T>A n.746T>A n.717T>A c.881T>A (p.Leu294Gln) c.596T>A (p.Leu199Gln) n.25A>T c.992T>A (p.Leu331Gln) | |
6 | g.10404527G>A | CA448717458 | TFAP2A,TFAP2A-AS2 | c.727C>T (p.Leu243=) c.751C>T (p.Leu251=) c.*242C>T (n.*242C>T) c.316C>T (p.Leu106=) c.733C>T (p.Leu245=) c.68C>T c.745C>T (p.Leu249=) c.459C>T n.745C>T n.716C>T c.880C>T (p.Leu294=) c.595C>T (p.Leu199=) n.26G>A c.991C>T (p.Leu331=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404527G>C | CA362701171 | TFAP2A,TFAP2A-AS2 | c.727C>G (p.Leu243Val) c.751C>G (p.Leu251Val) c.*242C>G (n.*242C>G) c.316C>G (p.Leu106Val) c.733C>G (p.Leu245Val) c.68C>G c.745C>G (p.Leu249Val) c.459C>G n.745C>G n.716C>G c.880C>G (p.Leu294Val) c.595C>G (p.Leu199Val) n.26G>C c.991C>G (p.Leu331Val) | |
6 | g.10404527G>T | CA362701172 | TFAP2A,TFAP2A-AS2 | c.727C>A (p.Leu243Met) c.751C>A (p.Leu251Met) c.*242C>A (n.*242C>A) c.316C>A (p.Leu106Met) c.733C>A (p.Leu245Met) c.68C>A c.745C>A (p.Leu249Met) c.459C>A n.745C>A n.716C>A c.880C>A (p.Leu294Met) c.595C>A (p.Leu199Met) n.26G>T c.991C>A (p.Leu331Met) | |
6 | g.10404528C>A | CA134049030 | TFAP2A,TFAP2A-AS2 | c.726G>T (p.Leu242=) c.750G>T (p.Leu250=) c.*241G>T (n.*241G>T) c.315G>T (p.Leu105=) c.732G>T (p.Leu244=) c.67G>T c.744G>T (p.Leu248=) c.458G>T n.744G>T n.715G>T c.879G>T (p.Leu293=) c.594G>T (p.Leu198=) n.27C>A c.990G>T (p.Leu330=) | dbSNP gnomAD v4 |
6 | g.10404528C= | CA1609976729 | TFAP2A,TFAP2A-AS2 | c.726G= (p.Leu242=) c.750G= (p.Leu250=) c.*241G= (n.*241G=) c.315G= (p.Leu105=) c.732G= (p.Leu244=) c.67G= c.744G= (p.Leu248=) c.458G= n.744G= n.715G= c.879G= (p.Leu293=) c.594G= (p.Leu198=) n.27C= c.990G= (p.Leu330=) | |
6 | g.10404528C>G | CA448717461 | TFAP2A,TFAP2A-AS2 | c.726G>C (p.Leu242=) c.750G>C (p.Leu250=) c.*241G>C (n.*241G>C) c.315G>C (p.Leu105=) c.732G>C (p.Leu244=) c.67G>C c.744G>C (p.Leu248=) c.458G>C n.744G>C n.715G>C c.879G>C (p.Leu293=) c.594G>C (p.Leu198=) n.27C>G c.990G>C (p.Leu330=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404528C>T | CA448717463 | TFAP2A,TFAP2A-AS2 | c.726G>A (p.Leu242=) c.750G>A (p.Leu250=) c.*241G>A (n.*241G>A) c.315G>A (p.Leu105=) c.732G>A (p.Leu244=) c.67G>A c.744G>A (p.Leu248=) c.458G>A n.744G>A n.715G>A c.879G>A (p.Leu293=) c.594G>A (p.Leu198=) n.27C>T c.990G>A (p.Leu330=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404529A>C | CA362701175 | TFAP2A,TFAP2A-AS2 | c.725T>G (p.Leu242Arg) c.749T>G (p.Leu250Arg) c.*240T>G (n.*240T>G) c.314T>G (p.Leu105Arg) c.731T>G (p.Leu244Arg) c.66T>G c.743T>G (p.Leu248Arg) c.457T>G n.743T>G n.714T>G c.878T>G (p.Leu293Arg) c.593T>G (p.Leu198Arg) n.28A>C c.989T>G (p.Leu330Arg) | |
6 | g.10404529A>G | CA362701173 | TFAP2A,TFAP2A-AS2 | c.725T>C (p.Leu242Pro) c.749T>C (p.Leu250Pro) c.*240T>C (n.*240T>C) c.314T>C (p.Leu105Pro) c.731T>C (p.Leu244Pro) c.66T>C c.743T>C (p.Leu248Pro) c.457T>C n.743T>C n.714T>C c.878T>C (p.Leu293Pro) c.593T>C (p.Leu198Pro) n.28A>G c.989T>C (p.Leu330Pro) | ClinVar |
6 | g.10404529A>T | CA362701174 | TFAP2A,TFAP2A-AS2 | c.725T>A (p.Leu242Gln) c.749T>A (p.Leu250Gln) c.*240T>A (n.*240T>A) c.314T>A (p.Leu105Gln) c.731T>A (p.Leu244Gln) c.66T>A c.743T>A (p.Leu248Gln) c.457T>A n.743T>A n.714T>A c.878T>A (p.Leu293Gln) c.593T>A (p.Leu198Gln) n.28A>T c.989T>A (p.Leu330Gln) | |
6 | g.10404530G>A | CA448717464 | TFAP2A,TFAP2A-AS2 | c.724C>T (p.Leu242=) c.748C>T (p.Leu250=) c.*239C>T (n.*239C>T) c.313C>T (p.Leu105=) c.730C>T (p.Leu244=) c.65C>T c.742C>T (p.Leu248=) c.456C>T n.742C>T n.713C>T c.877C>T (p.Leu293=) c.592C>T (p.Leu198=) n.29G>A c.988C>T (p.Leu330=) | |
6 | g.10404530G>C | CA362701176 | TFAP2A,TFAP2A-AS2 | c.724C>G (p.Leu242Val) c.748C>G (p.Leu250Val) c.*239C>G (n.*239C>G) c.313C>G (p.Leu105Val) c.730C>G (p.Leu244Val) c.65C>G c.742C>G (p.Leu248Val) c.456C>G n.742C>G n.713C>G c.877C>G (p.Leu293Val) c.592C>G (p.Leu198Val) n.29G>C c.988C>G (p.Leu330Val) | |
6 | g.10404530G>T | CA362701177 | TFAP2A,TFAP2A-AS2 | c.724C>A (p.Leu242Met) c.748C>A (p.Leu250Met) c.*239C>A (n.*239C>A) c.313C>A (p.Leu105Met) c.730C>A (p.Leu244Met) c.65C>A c.742C>A (p.Leu248Met) c.456C>A n.742C>A n.713C>A c.877C>A (p.Leu293Met) c.592C>A (p.Leu198Met) n.29G>T c.988C>A (p.Leu330Met) | |
6 | g.10404531C>A | CA448717465 | TFAP2A,TFAP2A-AS2 | c.723G>T (p.Ser241=) c.747G>T (p.Ser249=) c.*238G>T (n.*238G>T) c.312G>T (p.Ser104=) c.729G>T (p.Ser243=) c.64G>T c.741G>T (p.Ser247=) c.455G>T n.741G>T n.712G>T c.876G>T (p.Ser292=) c.591G>T (p.Ser197=) n.30C>A c.987G>T (p.Ser329=) | |
6 | g.10404531C= | CA1609976730 | TFAP2A,TFAP2A-AS2 | c.723G= (p.Ser241=) c.747G= (p.Ser249=) c.*238G= (n.*238G=) c.312G= (p.Ser104=) c.729G= (p.Ser243=) c.64G= c.741G= (p.Ser247=) c.455G= n.741G= n.712G= c.876G= (p.Ser292=) c.591G= (p.Ser197=) n.30C= c.987G= (p.Ser329=) | |
6 | g.10404531C>G | CA448717467 | TFAP2A,TFAP2A-AS2 | c.723G>C (p.Ser241=) c.747G>C (p.Ser249=) c.*238G>C (n.*238G>C) c.312G>C (p.Ser104=) c.729G>C (p.Ser243=) c.64G>C c.741G>C (p.Ser247=) c.455G>C n.741G>C n.712G>C c.876G>C (p.Ser292=) c.591G>C (p.Ser197=) n.30C>G c.987G>C (p.Ser329=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404531C>T | CA448717468 | TFAP2A,TFAP2A-AS2 | c.723G>A (p.Ser241=) c.747G>A (p.Ser249=) c.*238G>A (n.*238G>A) c.312G>A (p.Ser104=) c.729G>A (p.Ser243=) c.64G>A c.741G>A (p.Ser247=) c.455G>A n.741G>A n.712G>A c.876G>A (p.Ser292=) c.591G>A (p.Ser197=) n.30C>T c.987G>A (p.Ser329=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404532G>A | CA362701178 | TFAP2A,TFAP2A-AS2 | c.722C>T (p.Ser241Leu) c.746C>T (p.Ser249Leu) c.*237C>T (n.*237C>T) c.311C>T (p.Ser104Leu) c.728C>T (p.Ser243Leu) c.63C>T c.740C>T (p.Ser247Leu) c.454C>T n.740C>T n.711C>T c.875C>T (p.Ser292Leu) c.590C>T (p.Ser197Leu) n.31G>A c.986C>T (p.Ser329Leu) | |
6 | g.10404532G>C | CA362701179 | TFAP2A,TFAP2A-AS2 | c.722C>G (p.Ser241Trp) c.746C>G (p.Ser249Trp) c.*237C>G (n.*237C>G) c.311C>G (p.Ser104Trp) c.728C>G (p.Ser243Trp) c.63C>G c.740C>G (p.Ser247Trp) c.454C>G n.740C>G n.711C>G c.875C>G (p.Ser292Trp) c.590C>G (p.Ser197Trp) n.31G>C c.986C>G (p.Ser329Trp) | |
6 | g.10404532G>T | CA362701180 | TFAP2A,TFAP2A-AS2 | c.722C>A (p.Ser241Ter) c.746C>A (p.Ser249Ter) c.*237C>A (n.*237C>A) c.311C>A (p.Ser104Ter) c.728C>A (p.Ser243Ter) c.63C>A c.740C>A (p.Ser247Ter) c.454C>A n.740C>A n.711C>A c.875C>A (p.Ser292Ter) c.590C>A (p.Ser197Ter) n.31G>T c.986C>A (p.Ser329Ter) | |
6 | g.10404533A>C | CA362701183 | TFAP2A,TFAP2A-AS2 | c.721T>G (p.Ser241Ala) c.745T>G (p.Ser249Ala) c.*236T>G (n.*236T>G) c.310T>G (p.Ser104Ala) c.727T>G (p.Ser243Ala) c.62T>G c.739T>G (p.Ser247Ala) c.453T>G n.739T>G n.710T>G c.874T>G (p.Ser292Ala) c.589T>G (p.Ser197Ala) n.32A>C c.985T>G (p.Ser329Ala) | |
6 | g.10404533A>G | CA362701182 | TFAP2A,TFAP2A-AS2 | c.721T>C (p.Ser241Pro) c.745T>C (p.Ser249Pro) c.*236T>C (n.*236T>C) c.310T>C (p.Ser104Pro) c.727T>C (p.Ser243Pro) c.62T>C c.739T>C (p.Ser247Pro) c.453T>C n.739T>C n.710T>C c.874T>C (p.Ser292Pro) c.589T>C (p.Ser197Pro) n.32A>G c.985T>C (p.Ser329Pro) | |
6 | g.10404533A>T | CA362701181 | TFAP2A,TFAP2A-AS2 | c.721T>A (p.Ser241Thr) c.745T>A (p.Ser249Thr) c.*236T>A (n.*236T>A) c.310T>A (p.Ser104Thr) c.727T>A (p.Ser243Thr) c.62T>A c.739T>A (p.Ser247Thr) c.453T>A n.739T>A n.710T>A c.874T>A (p.Ser292Thr) c.589T>A (p.Ser197Thr) n.32A>T c.985T>A (p.Ser329Thr) | |
6 | g.10404534C>A | CA448717469 | TFAP2A,TFAP2A-AS2 | c.720G>T (p.Ala240=) c.744G>T (p.Ala248=) c.*235G>T (n.*235G>T) c.309G>T (p.Ala103=) c.726G>T (p.Ala242=) c.61G>T c.738G>T (p.Ala246=) c.452G>T n.738G>T n.709G>T c.873G>T (p.Ala291=) c.588G>T (p.Ala196=) n.33C>A c.984G>T (p.Ala328=) | |
6 | g.10404534C= | CA1609976731 | TFAP2A,TFAP2A-AS2 | c.720G= (p.Ala240=) c.744G= (p.Ala248=) c.*235G= (n.*235G=) c.309G= (p.Ala103=) c.726G= (p.Ala242=) c.61G= c.738G= (p.Ala246=) c.452G= n.738G= n.709G= c.873G= (p.Ala291=) c.588G= (p.Ala196=) n.33C= c.984G= (p.Ala328=) | |
6 | g.10404534C>G | CA448717470 | TFAP2A,TFAP2A-AS2 | c.720G>C (p.Ala240=) c.744G>C (p.Ala248=) c.*235G>C (n.*235G>C) c.309G>C (p.Ala103=) c.726G>C (p.Ala242=) c.61G>C c.738G>C (p.Ala246=) c.452G>C n.738G>C n.709G>C c.873G>C (p.Ala291=) c.588G>C (p.Ala196=) n.33C>G c.984G>C (p.Ala328=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404534C>T | CA448717471 | TFAP2A,TFAP2A-AS2 | c.720G>A (p.Ala240=) c.744G>A (p.Ala248=) c.*235G>A (n.*235G>A) c.309G>A (p.Ala103=) c.726G>A (p.Ala242=) c.61G>A c.738G>A (p.Ala246=) c.452G>A n.738G>A n.709G>A c.873G>A (p.Ala291=) c.588G>A (p.Ala196=) n.33C>T c.984G>A (p.Ala328=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404535G>A | CA362701184 | TFAP2A,TFAP2A-AS2 | c.719C>T (p.Ala240Val) c.743C>T (p.Ala248Val) c.*234C>T (n.*234C>T) c.308C>T (p.Ala103Val) c.725C>T (p.Ala242Val) c.60C>T c.737C>T (p.Ala246Val) c.451C>T n.737C>T n.708C>T c.872C>T (p.Ala291Val) c.587C>T (p.Ala196Val) n.34G>A c.983C>T (p.Ala328Val) | |
6 | g.10404535G>C | CA362701186 | TFAP2A,TFAP2A-AS2 | c.719C>G (p.Ala240Gly) c.743C>G (p.Ala248Gly) c.*234C>G (n.*234C>G) c.308C>G (p.Ala103Gly) c.725C>G (p.Ala242Gly) c.60C>G c.737C>G (p.Ala246Gly) c.451C>G n.737C>G n.708C>G c.872C>G (p.Ala291Gly) c.587C>G (p.Ala196Gly) n.34G>C c.983C>G (p.Ala328Gly) | |
6 | g.10404535G>T | CA362701185 | TFAP2A,TFAP2A-AS2 | c.719C>A (p.Ala240Glu) c.743C>A (p.Ala248Glu) c.*234C>A (n.*234C>A) c.308C>A (p.Ala103Glu) c.725C>A (p.Ala242Glu) c.60C>A c.737C>A (p.Ala246Glu) c.451C>A n.737C>A n.708C>A c.872C>A (p.Ala291Glu) c.587C>A (p.Ala196Glu) n.34G>T c.983C>A (p.Ala328Glu) | ClinVar |
6 | g.10404536C>A | CA362701187 | TFAP2A,TFAP2A-AS2 | c.718G>T (p.Ala240Ser) c.742G>T (p.Ala248Ser) c.*233G>T (n.*233G>T) c.307G>T (p.Ala103Ser) c.724G>T (p.Ala242Ser) c.59G>T c.736G>T (p.Ala246Ser) c.450G>T n.736G>T n.707G>T c.871G>T (p.Ala291Ser) c.586G>T (p.Ala196Ser) n.35C>A c.982G>T (p.Ala328Ser) | |
6 | g.10404536C>G | CA362701189 | TFAP2A,TFAP2A-AS2 | c.718G>C (p.Ala240Pro) c.742G>C (p.Ala248Pro) c.*233G>C (n.*233G>C) c.307G>C (p.Ala103Pro) c.724G>C (p.Ala242Pro) c.59G>C c.736G>C (p.Ala246Pro) c.450G>C n.736G>C n.707G>C c.871G>C (p.Ala291Pro) c.586G>C (p.Ala196Pro) n.35C>G c.982G>C (p.Ala328Pro) | |
6 | g.10404536C>T | CA362701188 | TFAP2A,TFAP2A-AS2 | c.718G>A (p.Ala240Thr) c.742G>A (p.Ala248Thr) c.*233G>A (n.*233G>A) c.307G>A (p.Ala103Thr) c.724G>A (p.Ala242Thr) c.59G>A c.736G>A (p.Ala246Thr) c.450G>A n.736G>A n.707G>A c.871G>A (p.Ala291Thr) c.586G>A (p.Ala196Thr) n.35C>T c.982G>A (p.Ala328Thr) | ClinVar gnomAD v4 |
6 | g.10404537G>A | CA448717472 | TFAP2A,TFAP2A-AS2 | c.717C>T (p.Asn239=) c.741C>T (p.Asn247=) c.*232C>T (n.*232C>T) c.306C>T (p.Asn102=) c.723C>T (p.Asn241=) c.58C>T c.735C>T (p.Asn245=) c.449C>T n.735C>T n.706C>T c.870C>T (p.Asn290=) c.585C>T (p.Asn195=) n.36G>A c.981C>T (p.Asn327=) | dbSNP gnomAD v4 |
6 | g.10404537G>C | CA362701190 | TFAP2A,TFAP2A-AS2 | c.717C>G (p.Asn239Lys) c.741C>G (p.Asn247Lys) c.*232C>G (n.*232C>G) c.306C>G (p.Asn102Lys) c.723C>G (p.Asn241Lys) c.58C>G c.735C>G (p.Asn245Lys) c.449C>G n.735C>G n.706C>G c.870C>G (p.Asn290Lys) c.585C>G (p.Asn195Lys) n.36G>C c.981C>G (p.Asn327Lys) | |
6 | g.10404537G= | CA1609976732 | TFAP2A,TFAP2A-AS2 | c.717C= (p.Asn239=) c.741C= (p.Asn247=) c.*232C= (n.*232C=) c.306C= (p.Asn102=) c.723C= (p.Asn241=) c.58C= c.735C= (p.Asn245=) c.449C= n.735C= n.706C= c.870C= (p.Asn290=) c.585C= (p.Asn195=) n.36G= c.981C= (p.Asn327=) | |
6 | g.10404537G>T | CA362701191 | TFAP2A,TFAP2A-AS2 | c.717C>A (p.Asn239Lys) c.741C>A (p.Asn247Lys) c.*232C>A (n.*232C>A) c.306C>A (p.Asn102Lys) c.723C>A (p.Asn241Lys) c.58C>A c.735C>A (p.Asn245Lys) c.449C>A n.735C>A n.706C>A c.870C>A (p.Asn290Lys) c.585C>A (p.Asn195Lys) n.36G>T c.981C>A (p.Asn327Lys) | |
6 | g.10404538T>A | CA362701192 | TFAP2A,TFAP2A-AS2 | c.716A>T (p.Asn239Ile) c.740A>T (p.Asn247Ile) c.*231A>T (n.*231A>T) c.305A>T (p.Asn102Ile) c.722A>T (p.Asn241Ile) c.57A>T c.734A>T (p.Asn245Ile) c.448A>T n.734A>T n.705A>T c.869A>T (p.Asn290Ile) c.584A>T (p.Asn195Ile) n.37T>A c.980A>T (p.Asn327Ile) | |
6 | g.10404538T>C | CA362701193 | TFAP2A,TFAP2A-AS2 | c.716A>G (p.Asn239Ser) c.740A>G (p.Asn247Ser) c.*231A>G (n.*231A>G) c.305A>G (p.Asn102Ser) c.722A>G (p.Asn241Ser) c.57A>G c.734A>G (p.Asn245Ser) c.448A>G n.734A>G n.705A>G c.869A>G (p.Asn290Ser) c.584A>G (p.Asn195Ser) n.37T>C c.980A>G (p.Asn327Ser) | |
6 | g.10404538T>G | CA362701194 | TFAP2A,TFAP2A-AS2 | c.716A>C (p.Asn239Thr) c.740A>C (p.Asn247Thr) c.*231A>C (n.*231A>C) c.305A>C (p.Asn102Thr) c.722A>C (p.Asn241Thr) c.57A>C c.734A>C (p.Asn245Thr) c.448A>C n.734A>C n.705A>C c.869A>C (p.Asn290Thr) c.584A>C (p.Asn195Thr) n.37T>G c.980A>C (p.Asn327Thr) | |
6 | g.10404539T>A | CA362701195 | TFAP2A,TFAP2A-AS2 | c.715A>T (p.Asn239Tyr) c.739A>T (p.Asn247Tyr) c.*230A>T (n.*230A>T) c.304A>T (p.Asn102Tyr) c.721A>T (p.Asn241Tyr) c.56A>T c.733A>T (p.Asn245Tyr) c.447A>T n.733A>T n.704A>T c.868A>T (p.Asn290Tyr) c.583A>T (p.Asn195Tyr) n.38T>A c.979A>T (p.Asn327Tyr) | |
6 | g.10404539T>C | CA362701196 | TFAP2A,TFAP2A-AS2 | c.715A>G (p.Asn239Asp) c.739A>G (p.Asn247Asp) c.*230A>G (n.*230A>G) c.304A>G (p.Asn102Asp) c.721A>G (p.Asn241Asp) c.56A>G c.733A>G (p.Asn245Asp) c.447A>G n.733A>G n.704A>G c.868A>G (p.Asn290Asp) c.583A>G (p.Asn195Asp) n.38T>C c.979A>G (p.Asn327Asp) | ClinVar dbSNP |
6 | g.10404539T>G | CA362701197 | TFAP2A,TFAP2A-AS2 | c.715A>C (p.Asn239His) c.739A>C (p.Asn247His) c.*230A>C (n.*230A>C) c.304A>C (p.Asn102His) c.721A>C (p.Asn241His) c.56A>C c.733A>C (p.Asn245His) c.447A>C n.733A>C n.704A>C c.868A>C (p.Asn290His) c.583A>C (p.Asn195His) n.38T>G c.979A>C (p.Asn327His) | gnomAD v4 |
6 | g.10404540G>A | CA448717477 | TFAP2A,TFAP2A-AS2 | c.714C>T (p.Leu238=) c.738C>T (p.Leu246=) c.*229C>T (n.*229C>T) c.303C>T (p.Leu101=) c.720C>T (p.Leu240=) c.55C>T c.732C>T (p.Leu244=) c.446C>T n.732C>T n.703C>T c.867C>T (p.Leu289=) c.582C>T (p.Leu194=) n.39G>A c.978C>T (p.Leu326=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404540G>C | CA448717474 | TFAP2A,TFAP2A-AS2 | c.714C>G (p.Leu238=) c.738C>G (p.Leu246=) c.*229C>G (n.*229C>G) c.303C>G (p.Leu101=) c.720C>G (p.Leu240=) c.55C>G c.732C>G (p.Leu244=) c.446C>G n.732C>G n.703C>G c.867C>G (p.Leu289=) c.582C>G (p.Leu194=) n.39G>C c.978C>G (p.Leu326=) | dbSNP gnomAD v4 |
6 | g.10404540G= | CA1609976733 | TFAP2A,TFAP2A-AS2 | c.714C= (p.Leu238=) c.738C= (p.Leu246=) c.*229C= (n.*229C=) c.303C= (p.Leu101=) c.720C= (p.Leu240=) c.55C= c.732C= (p.Leu244=) c.446C= n.732C= n.703C= c.867C= (p.Leu289=) c.582C= (p.Leu194=) n.39G= c.978C= (p.Leu326=) | |
6 | g.10404540G>T | CA448717475 | TFAP2A,TFAP2A-AS2 | c.714C>A (p.Leu238=) c.738C>A (p.Leu246=) c.*229C>A (n.*229C>A) c.303C>A (p.Leu101=) c.720C>A (p.Leu240=) c.55C>A c.732C>A (p.Leu244=) c.446C>A n.732C>A n.703C>A c.867C>A (p.Leu289=) c.582C>A (p.Leu194=) n.39G>T c.978C>A (p.Leu326=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404541A>C | CA362701198 | TFAP2A,TFAP2A-AS2 | c.713T>G (p.Leu238Arg) c.737T>G (p.Leu246Arg) c.*228T>G (n.*228T>G) c.302T>G (p.Leu101Arg) c.719T>G (p.Leu240Arg) c.54T>G c.731T>G (p.Leu244Arg) c.445T>G n.731T>G n.702T>G c.866T>G (p.Leu289Arg) c.581T>G (p.Leu194Arg) n.40A>C c.977T>G (p.Leu326Arg) | |
6 | g.10404541A>G | CA362701199 | TFAP2A,TFAP2A-AS2 | c.713T>C (p.Leu238Pro) c.737T>C (p.Leu246Pro) c.*228T>C (n.*228T>C) c.302T>C (p.Leu101Pro) c.719T>C (p.Leu240Pro) c.54T>C c.731T>C (p.Leu244Pro) c.445T>C n.731T>C n.702T>C c.866T>C (p.Leu289Pro) c.581T>C (p.Leu194Pro) n.40A>G c.977T>C (p.Leu326Pro) | |
6 | g.10404541A>T | CA362701200 | TFAP2A,TFAP2A-AS2 | c.713T>A (p.Leu238His) c.737T>A (p.Leu246His) c.*228T>A (n.*228T>A) c.302T>A (p.Leu101His) c.719T>A (p.Leu240His) c.54T>A c.731T>A (p.Leu244His) c.445T>A n.731T>A n.702T>A c.866T>A (p.Leu289His) c.581T>A (p.Leu194His) n.40A>T c.977T>A (p.Leu326His) | |
6 | g.10404542G>A | CA362701202 | TFAP2A,TFAP2A-AS2 | c.712C>T (p.Leu238Phe) c.736C>T (p.Leu246Phe) c.*227C>T (n.*227C>T) c.301C>T (p.Leu101Phe) c.718C>T (p.Leu240Phe) c.53C>T c.730C>T (p.Leu244Phe) c.444C>T n.730C>T n.701C>T c.865C>T (p.Leu289Phe) c.580C>T (p.Leu194Phe) n.41G>A c.976C>T (p.Leu326Phe) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404542G>C | CA362701201 | TFAP2A,TFAP2A-AS2 | c.712C>G (p.Leu238Val) c.736C>G (p.Leu246Val) c.*227C>G (n.*227C>G) c.301C>G (p.Leu101Val) c.718C>G (p.Leu240Val) c.53C>G c.730C>G (p.Leu244Val) c.444C>G n.730C>G n.701C>G c.865C>G (p.Leu289Val) c.580C>G (p.Leu194Val) n.41G>C c.976C>G (p.Leu326Val) | |
6 | g.10404542G= | CA1609976734 | TFAP2A,TFAP2A-AS2 | c.712C= (p.Leu238=) c.736C= (p.Leu246=) c.*227C= (n.*227C=) c.301C= (p.Leu101=) c.718C= (p.Leu240=) c.53C= c.730C= (p.Leu244=) c.444C= n.730C= n.701C= c.865C= (p.Leu289=) c.580C= (p.Leu194=) n.41G= c.976C= (p.Leu326=) | |
6 | g.10404542G>T | CA134049049 | TFAP2A,TFAP2A-AS2 | c.712C>A (p.Leu238Ile) c.736C>A (p.Leu246Ile) c.*227C>A (n.*227C>A) c.301C>A (p.Leu101Ile) c.718C>A (p.Leu240Ile) c.53C>A c.730C>A (p.Leu244Ile) c.444C>A n.730C>A n.701C>A c.865C>A (p.Leu289Ile) c.580C>A (p.Leu194Ile) n.41G>T c.976C>A (p.Leu326Ile) | dbSNP |
6 | g.10404543A>C | CA362701203 | TFAP2A,TFAP2A-AS2 | c.711T>G (p.Cys237Trp) c.735T>G (p.Cys245Trp) c.*226T>G (n.*226T>G) c.300T>G (p.Cys100Trp) c.717T>G (p.Cys239Trp) c.52T>G c.729T>G (p.Cys243Trp) c.443T>G n.729T>G n.700T>G c.864T>G (p.Cys288Trp) c.579T>G (p.Cys193Trp) n.42A>C c.975T>G (p.Cys325Trp) | |
6 | g.10404543A>G | CA448717493 | TFAP2A,TFAP2A-AS2 | c.711T>C (p.Cys237=) c.735T>C (p.Cys245=) c.*226T>C (n.*226T>C) c.300T>C (p.Cys100=) c.717T>C (p.Cys239=) c.52T>C c.729T>C (p.Cys243=) c.443T>C n.729T>C n.700T>C c.864T>C (p.Cys288=) c.579T>C (p.Cys193=) n.42A>G c.975T>C (p.Cys325=) | |
6 | g.10404543A>T | CA362701204 | TFAP2A,TFAP2A-AS2 | c.711T>A (p.Cys237Ter) c.735T>A (p.Cys245Ter) c.*226T>A (n.*226T>A) c.300T>A (p.Cys100Ter) c.717T>A (p.Cys239Ter) c.52T>A c.729T>A (p.Cys243Ter) c.443T>A n.729T>A n.700T>A c.864T>A (p.Cys288Ter) c.579T>A (p.Cys193Ter) n.42A>T c.975T>A (p.Cys325Ter) | |
6 | g.10404544C>A | CA362701205 | TFAP2A,TFAP2A-AS2 | c.710G>T (p.Cys237Phe) c.734G>T (p.Cys245Phe) c.*225G>T (n.*225G>T) c.299G>T (p.Cys100Phe) c.716G>T (p.Cys239Phe) c.51G>T c.728G>T (p.Cys243Phe) c.442G>T n.728G>T n.699G>T c.863G>T (p.Cys288Phe) c.578G>T (p.Cys193Phe) n.43C>A c.974G>T (p.Cys325Phe) | |
6 | g.10404544C= | CA1609976735 | TFAP2A,TFAP2A-AS2 | c.710G= (p.Cys237=) c.734G= (p.Cys245=) c.*225G= (n.*225G=) c.299G= (p.Cys100=) c.716G= (p.Cys239=) c.51G= c.728G= (p.Cys243=) c.442G= n.728G= n.699G= c.863G= (p.Cys288=) c.578G= (p.Cys193=) n.43C= c.974G= (p.Cys325=) | |
6 | g.10404544C>G | CA362701206 | TFAP2A,TFAP2A-AS2 | c.710G>C (p.Cys237Ser) c.734G>C (p.Cys245Ser) c.*225G>C (n.*225G>C) c.299G>C (p.Cys100Ser) c.716G>C (p.Cys239Ser) c.51G>C c.728G>C (p.Cys243Ser) c.442G>C n.728G>C n.699G>C c.863G>C (p.Cys288Ser) c.578G>C (p.Cys193Ser) n.43C>G c.974G>C (p.Cys325Ser) | dbSNP gnomAD v4 |
6 | g.10404544C>T | CA362701207 | TFAP2A,TFAP2A-AS2 | c.710G>A (p.Cys237Tyr) c.734G>A (p.Cys245Tyr) c.*225G>A (n.*225G>A) c.299G>A (p.Cys100Tyr) c.716G>A (p.Cys239Tyr) c.51G>A c.728G>A (p.Cys243Tyr) c.442G>A n.728G>A n.699G>A c.863G>A (p.Cys288Tyr) c.578G>A (p.Cys193Tyr) n.43C>T c.974G>A (p.Cys325Tyr) | dbSNP gnomAD v4 |
6 | g.10404545A= | CA1609976736 | TFAP2A,TFAP2A-AS2 | c.709T= (p.Cys237=) c.733T= (p.Cys245=) c.*224T= (n.*224T=) c.298T= (p.Cys100=) c.715T= (p.Cys239=) c.50T= c.727T= (p.Cys243=) c.441T= n.727T= n.698T= c.862T= (p.Cys288=) c.577T= (p.Cys193=) n.44A= c.973T= (p.Cys325=) | |
6 | g.10404545A>C | CA362701208 | TFAP2A,TFAP2A-AS2 | c.709T>G (p.Cys237Gly) c.733T>G (p.Cys245Gly) c.*224T>G (n.*224T>G) c.298T>G (p.Cys100Gly) c.715T>G (p.Cys239Gly) c.50T>G c.727T>G (p.Cys243Gly) c.441T>G n.727T>G n.698T>G c.862T>G (p.Cys288Gly) c.577T>G (p.Cys193Gly) n.44A>C c.973T>G (p.Cys325Gly) | dbSNP |
6 | g.10404545A>G | CA362701209 | TFAP2A,TFAP2A-AS2 | c.709T>C (p.Cys237Arg) c.733T>C (p.Cys245Arg) c.*224T>C (n.*224T>C) c.298T>C (p.Cys100Arg) c.715T>C (p.Cys239Arg) c.50T>C c.727T>C (p.Cys243Arg) c.441T>C n.727T>C n.698T>C c.862T>C (p.Cys288Arg) c.577T>C (p.Cys193Arg) n.44A>G c.973T>C (p.Cys325Arg) | dbSNP gnomAD v2 |
6 | g.10404545A>T | CA362701210 | TFAP2A,TFAP2A-AS2 | c.709T>A (p.Cys237Ser) c.733T>A (p.Cys245Ser) c.*224T>A (n.*224T>A) c.298T>A (p.Cys100Ser) c.715T>A (p.Cys239Ser) c.50T>A c.727T>A (p.Cys243Ser) c.441T>A n.727T>A n.698T>A c.862T>A (p.Cys288Ser) c.577T>A (p.Cys193Ser) n.44A>T c.973T>A (p.Cys325Ser) | |
6 | g.10404546C>A | CA362701211 | TFAP2A,TFAP2A-AS2 | c.708G>T (p.Glu236Asp) c.732G>T (p.Glu244Asp) c.*223G>T (n.*223G>T) c.297G>T (p.Glu99Asp) c.714G>T (p.Glu238Asp) c.49G>T c.726G>T (p.Glu242Asp) c.440G>T n.726G>T n.697G>T c.861G>T (p.Glu287Asp) c.576G>T (p.Glu192Asp) n.45C>A c.972G>T (p.Glu324Asp) | |
6 | g.10404546C= | CA1609976737 | TFAP2A,TFAP2A-AS2 | c.708G= (p.Glu236=) c.732G= (p.Glu244=) c.*223G= (n.*223G=) c.297G= (p.Glu99=) c.714G= (p.Glu238=) c.49G= c.726G= (p.Glu242=) c.440G= n.726G= n.697G= c.861G= (p.Glu287=) c.576G= (p.Glu192=) n.45C= c.972G= (p.Glu324=) | |
6 | g.10404546C>G | CA362701212 | TFAP2A,TFAP2A-AS2 | c.708G>C (p.Glu236Asp) c.732G>C (p.Glu244Asp) c.*223G>C (n.*223G>C) c.297G>C (p.Glu99Asp) c.714G>C (p.Glu238Asp) c.49G>C c.726G>C (p.Glu242Asp) c.440G>C n.726G>C n.697G>C c.861G>C (p.Glu287Asp) c.576G>C (p.Glu192Asp) n.45C>G c.972G>C (p.Glu324Asp) | dbSNP gnomAD v4 |
6 | g.10404546C>T | CA3631263 | TFAP2A,TFAP2A-AS2 | c.708G>A (p.Glu236=) c.732G>A (p.Glu244=) c.*223G>A (n.*223G>A) c.297G>A (p.Glu99=) c.714G>A (p.Glu238=) c.49G>A c.726G>A (p.Glu242=) c.440G>A n.726G>A n.697G>A c.861G>A (p.Glu287=) c.576G>A (p.Glu192=) n.45C>T c.972G>A (p.Glu324=) | dbSNP ExAC |
6 | g.10404547T>A | CA362701215 | TFAP2A,TFAP2A-AS2 | c.707A>T (p.Glu236Val) c.731A>T (p.Glu244Val) c.*222A>T (n.*222A>T) c.296A>T (p.Glu99Val) c.713A>T (p.Glu238Val) c.48A>T c.725A>T (p.Glu242Val) c.439A>T n.725A>T n.696A>T c.860A>T (p.Glu287Val) c.575A>T (p.Glu192Val) n.46T>A c.971A>T (p.Glu324Val) | |
6 | g.10404547T>C | CA362701214 | TFAP2A,TFAP2A-AS2 | c.707A>G (p.Glu236Gly) c.731A>G (p.Glu244Gly) c.*222A>G (n.*222A>G) c.296A>G (p.Glu99Gly) c.713A>G (p.Glu238Gly) c.48A>G c.725A>G (p.Glu242Gly) c.439A>G n.725A>G n.696A>G c.860A>G (p.Glu287Gly) c.575A>G (p.Glu192Gly) n.46T>C c.971A>G (p.Glu324Gly) | |
6 | g.10404547T>G | CA362701213 | TFAP2A,TFAP2A-AS2 | c.707A>C (p.Glu236Ala) c.731A>C (p.Glu244Ala) c.*222A>C (n.*222A>C) c.296A>C (p.Glu99Ala) c.713A>C (p.Glu238Ala) c.48A>C c.725A>C (p.Glu242Ala) c.439A>C n.725A>C n.696A>C c.860A>C (p.Glu287Ala) c.575A>C (p.Glu192Ala) n.46T>G c.971A>C (p.Glu324Ala) | |
6 | g.10404548C>A | CA362701216 | TFAP2A,TFAP2A-AS2 | c.706G>T (p.Glu236Ter) c.730G>T (p.Glu244Ter) c.*221G>T (n.*221G>T) c.295G>T (p.Glu99Ter) c.712G>T (p.Glu238Ter) c.47G>T c.724G>T (p.Glu242Ter) c.438G>T n.724G>T n.695G>T c.859G>T (p.Glu287Ter) c.574G>T (p.Glu192Ter) n.47C>A c.970G>T (p.Glu324Ter) | |
6 | g.10404548C= | CA1609976738 | TFAP2A,TFAP2A-AS2 | c.706G= (p.Glu236=) c.730G= (p.Glu244=) c.*221G= (n.*221G=) c.295G= (p.Glu99=) c.712G= (p.Glu238=) c.47G= c.724G= (p.Glu242=) c.438G= n.724G= n.695G= c.859G= (p.Glu287=) c.574G= (p.Glu192=) n.47C= c.970G= (p.Glu324=) | |
6 | g.10404548C>G | CA362701217 | TFAP2A,TFAP2A-AS2 | c.706G>C (p.Glu236Gln) c.730G>C (p.Glu244Gln) c.*221G>C (n.*221G>C) c.295G>C (p.Glu99Gln) c.712G>C (p.Glu238Gln) c.47G>C c.724G>C (p.Glu242Gln) c.438G>C n.724G>C n.695G>C c.859G>C (p.Glu287Gln) c.574G>C (p.Glu192Gln) n.47C>G c.970G>C (p.Glu324Gln) | dbSNP gnomAD v4 |
6 | g.10404548C>T | CA134049061 | TFAP2A,TFAP2A-AS2 | c.706G>A (p.Glu236Lys) c.730G>A (p.Glu244Lys) c.*221G>A (n.*221G>A) c.295G>A (p.Glu99Lys) c.712G>A (p.Glu238Lys) c.47G>A c.724G>A (p.Glu242Lys) c.438G>A n.724G>A n.695G>A c.859G>A (p.Glu287Lys) c.574G>A (p.Glu192Lys) n.47C>T c.970G>A (p.Glu324Lys) | ClinVar dbSNP |
6 | g.10404549G>A | CA448717496 | TFAP2A,TFAP2A-AS2 | c.705C>T (p.Pro235=) c.729C>T (p.Pro243=) c.*220C>T (n.*220C>T) c.294C>T (p.Pro98=) c.711C>T (p.Pro237=) c.46C>T c.723C>T (p.Pro241=) c.437C>T n.723C>T n.694C>T c.858C>T (p.Pro286=) c.573C>T (p.Pro191=) n.48G>A c.969C>T (p.Pro323=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404549G>C | CA3631265 | TFAP2A,TFAP2A-AS2 | c.705C>G (p.Pro235=) c.729C>G (p.Pro243=) c.*220C>G (n.*220C>G) c.294C>G (p.Pro98=) c.711C>G (p.Pro237=) c.46C>G c.723C>G (p.Pro241=) c.437C>G n.723C>G n.694C>G c.858C>G (p.Pro286=) c.573C>G (p.Pro191=) n.48G>C c.969C>G (p.Pro323=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404549G= | CA1609976739 | TFAP2A,TFAP2A-AS2 | c.705C= (p.Pro235=) c.729C= (p.Pro243=) c.*220C= (n.*220C=) c.294C= (p.Pro98=) c.711C= (p.Pro237=) c.46C= c.723C= (p.Pro241=) c.437C= n.723C= n.694C= c.858C= (p.Pro286=) c.573C= (p.Pro191=) n.48G= c.969C= (p.Pro323=) | |
6 | g.10404549G>T | CA3631264 | TFAP2A,TFAP2A-AS2 | c.705C>A (p.Pro235=) c.729C>A (p.Pro243=) c.*220C>A (n.*220C>A) c.294C>A (p.Pro98=) c.711C>A (p.Pro237=) c.46C>A c.723C>A (p.Pro241=) c.437C>A n.723C>A n.694C>A c.858C>A (p.Pro286=) c.573C>A (p.Pro191=) n.48G>T c.969C>A (p.Pro323=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404550G>A | CA362701218 | TFAP2A,TFAP2A-AS2 | c.704C>T (p.Pro235Leu) c.728C>T (p.Pro243Leu) c.*219C>T (n.*219C>T) c.293C>T (p.Pro98Leu) c.710C>T (p.Pro237Leu) c.45C>T c.722C>T (p.Pro241Leu) c.436C>T n.722C>T n.693C>T c.857C>T (p.Pro286Leu) c.572C>T (p.Pro191Leu) n.49G>A c.968C>T (p.Pro323Leu) | |
6 | g.10404550G>C | CA362701219 | TFAP2A,TFAP2A-AS2 | c.704C>G (p.Pro235Arg) c.728C>G (p.Pro243Arg) c.*219C>G (n.*219C>G) c.293C>G (p.Pro98Arg) c.710C>G (p.Pro237Arg) c.45C>G c.722C>G (p.Pro241Arg) c.436C>G n.722C>G n.693C>G c.857C>G (p.Pro286Arg) c.572C>G (p.Pro191Arg) n.49G>C c.968C>G (p.Pro323Arg) | |
6 | g.10404550G>T | CA362701220 | TFAP2A,TFAP2A-AS2 | c.704C>A (p.Pro235His) c.728C>A (p.Pro243His) c.*219C>A (n.*219C>A) c.293C>A (p.Pro98His) c.710C>A (p.Pro237His) c.45C>A c.722C>A (p.Pro241His) c.436C>A n.722C>A n.693C>A c.857C>A (p.Pro286His) c.572C>A (p.Pro191His) n.49G>T c.968C>A (p.Pro323His) | |
6 | g.10404551G>A | CA362701221 | TFAP2A,TFAP2A-AS2 | c.703C>T (p.Pro235Ser) c.727C>T (p.Pro243Ser) c.*218C>T (n.*218C>T) c.292C>T (p.Pro98Ser) c.709C>T (p.Pro237Ser) c.44C>T c.721C>T (p.Pro241Ser) c.435C>T n.721C>T n.692C>T c.856C>T (p.Pro286Ser) c.571C>T (p.Pro191Ser) n.50G>A c.967C>T (p.Pro323Ser) | |
6 | g.10404551G>C | CA362701222 | TFAP2A,TFAP2A-AS2 | c.703C>G (p.Pro235Ala) c.727C>G (p.Pro243Ala) c.*218C>G (n.*218C>G) c.292C>G (p.Pro98Ala) c.709C>G (p.Pro237Ala) c.44C>G c.721C>G (p.Pro241Ala) c.435C>G n.721C>G n.692C>G c.856C>G (p.Pro286Ala) c.571C>G (p.Pro191Ala) n.50G>C c.967C>G (p.Pro323Ala) | ClinVar |
6 | g.10404551G>T | CA362701223 | TFAP2A,TFAP2A-AS2 | c.703C>A (p.Pro235Thr) c.727C>A (p.Pro243Thr) c.*218C>A (n.*218C>A) c.292C>A (p.Pro98Thr) c.709C>A (p.Pro237Thr) c.44C>A c.721C>A (p.Pro241Thr) c.435C>A n.721C>A n.692C>A c.856C>A (p.Pro286Thr) c.571C>A (p.Pro191Thr) n.50G>T c.967C>A (p.Pro323Thr) | |
6 | g.10404552T>A | CA448717498 | TFAP2A,TFAP2A-AS2 | c.702A>T (p.Pro234=) c.726A>T (p.Pro242=) c.*217A>T (n.*217A>T) c.291A>T (p.Pro97=) c.708A>T (p.Pro236=) c.43A>T c.720A>T (p.Pro240=) c.434A>T n.720A>T n.691A>T c.855A>T (p.Pro285=) c.570A>T (p.Pro190=) n.51T>A c.966A>T (p.Pro322=) | |
6 | g.10404552T>C | CA448717499 | TFAP2A,TFAP2A-AS2 | c.702A>G (p.Pro234=) c.726A>G (p.Pro242=) c.*217A>G (n.*217A>G) c.291A>G (p.Pro97=) c.708A>G (p.Pro236=) c.43A>G c.720A>G (p.Pro240=) c.434A>G n.720A>G n.691A>G c.855A>G (p.Pro285=) c.570A>G (p.Pro190=) n.51T>C c.966A>G (p.Pro322=) | |
6 | g.10404552T>G | CA448717500 | TFAP2A,TFAP2A-AS2 | c.702A>C (p.Pro234=) c.726A>C (p.Pro242=) c.*217A>C (n.*217A>C) c.291A>C (p.Pro97=) c.708A>C (p.Pro236=) c.43A>C c.720A>C (p.Pro240=) c.434A>C n.720A>C n.691A>C c.855A>C (p.Pro285=) c.570A>C (p.Pro190=) n.51T>G c.966A>C (p.Pro322=) | |
6 | g.10404553G>A | CA362701226 | TFAP2A,TFAP2A-AS2 | c.701C>T (p.Pro234Leu) c.725C>T (p.Pro242Leu) c.*216C>T (n.*216C>T) c.290C>T (p.Pro97Leu) c.707C>T (p.Pro236Leu) c.42C>T c.719C>T (p.Pro240Leu) c.433C>T n.719C>T n.690C>T c.854C>T (p.Pro285Leu) c.569C>T (p.Pro190Leu) n.52G>A c.965C>T (p.Pro322Leu) | |
6 | g.10404553G>C | CA362701225 | TFAP2A,TFAP2A-AS2 | c.701C>G (p.Pro234Arg) c.725C>G (p.Pro242Arg) c.*216C>G (n.*216C>G) c.290C>G (p.Pro97Arg) c.707C>G (p.Pro236Arg) c.42C>G c.719C>G (p.Pro240Arg) c.433C>G n.719C>G n.690C>G c.854C>G (p.Pro285Arg) c.569C>G (p.Pro190Arg) n.52G>C c.965C>G (p.Pro322Arg) | COSMIC COSMIC COSMIC |
6 | g.10404553G= | CA1609976740 | TFAP2A,TFAP2A-AS2 | c.701C= (p.Pro234=) c.725C= (p.Pro242=) c.*216C= (n.*216C=) c.290C= (p.Pro97=) c.707C= (p.Pro236=) c.42C= c.719C= (p.Pro240=) c.433C= n.719C= n.690C= c.854C= (p.Pro285=) c.569C= (p.Pro190=) n.52G= c.965C= (p.Pro322=) | |
6 | g.10404553G>T | CA362701224 | TFAP2A,TFAP2A-AS2 | c.701C>A (p.Pro234Gln) c.725C>A (p.Pro242Gln) c.*216C>A (n.*216C>A) c.290C>A (p.Pro97Gln) c.707C>A (p.Pro236Gln) c.42C>A c.719C>A (p.Pro240Gln) c.433C>A n.719C>A n.690C>A c.854C>A (p.Pro285Gln) c.569C>A (p.Pro190Gln) n.52G>T c.965C>A (p.Pro322Gln) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404554G>A | CA362701227 | TFAP2A,TFAP2A-AS2 | c.700C>T (p.Pro234Ser) c.724C>T (p.Pro242Ser) c.*215C>T (n.*215C>T) c.289C>T (p.Pro97Ser) c.706C>T (p.Pro236Ser) c.41C>T c.718C>T (p.Pro240Ser) c.432C>T n.718C>T n.689C>T c.853C>T (p.Pro285Ser) c.568C>T (p.Pro190Ser) n.53G>A c.964C>T (p.Pro322Ser) | |
6 | g.10404554G>C | CA362701228 | TFAP2A,TFAP2A-AS2 | c.700C>G (p.Pro234Ala) c.724C>G (p.Pro242Ala) c.*215C>G (n.*215C>G) c.289C>G (p.Pro97Ala) c.706C>G (p.Pro236Ala) c.41C>G c.718C>G (p.Pro240Ala) c.432C>G n.718C>G n.689C>G c.853C>G (p.Pro285Ala) c.568C>G (p.Pro190Ala) n.53G>C c.964C>G (p.Pro322Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
6 | g.10404554G= | CA1609976741 | TFAP2A,TFAP2A-AS2 | c.700C= (p.Pro234=) c.724C= (p.Pro242=) c.*215C= (n.*215C=) c.289C= (p.Pro97=) c.706C= (p.Pro236=) c.41C= c.718C= (p.Pro240=) c.432C= n.718C= n.689C= c.853C= (p.Pro285=) c.568C= (p.Pro190=) n.53G= c.964C= (p.Pro322=) | |
6 | g.10404554G>T | CA362701229 | TFAP2A,TFAP2A-AS2 | c.700C>A (p.Pro234Thr) c.724C>A (p.Pro242Thr) c.*215C>A (n.*215C>A) c.289C>A (p.Pro97Thr) c.706C>A (p.Pro236Thr) c.41C>A c.718C>A (p.Pro240Thr) c.432C>A n.718C>A n.689C>A c.853C>A (p.Pro285Thr) c.568C>A (p.Pro190Thr) n.53G>T c.964C>A (p.Pro322Thr) | |
6 | g.10404555T>A | CA448717504 | TFAP2A,TFAP2A-AS2 | c.699A>T (p.Ser233=) c.723A>T (p.Ser241=) c.*214A>T (n.*214A>T) c.288A>T (p.Ser96=) c.705A>T (p.Ser235=) c.40A>T c.717A>T (p.Ser239=) c.431A>T n.717A>T n.688A>T c.852A>T (p.Ser284=) c.567A>T (p.Ser189=) n.54T>A c.963A>T (p.Ser321=) | |
6 | g.10404555T>C | CA448717505 | TFAP2A,TFAP2A-AS2 | c.699A>G (p.Ser233=) c.723A>G (p.Ser241=) c.*214A>G (n.*214A>G) c.288A>G (p.Ser96=) c.705A>G (p.Ser235=) c.40A>G c.717A>G (p.Ser239=) c.431A>G n.717A>G n.688A>G c.852A>G (p.Ser284=) c.567A>G (p.Ser189=) n.54T>C c.963A>G (p.Ser321=) | |
6 | g.10404555T>G | CA3631266 | TFAP2A,TFAP2A-AS2 | c.699A>C (p.Ser233=) c.723A>C (p.Ser241=) c.*214A>C (n.*214A>C) c.288A>C (p.Ser96=) c.705A>C (p.Ser235=) c.40A>C c.717A>C (p.Ser239=) c.431A>C n.717A>C n.688A>C c.852A>C (p.Ser284=) c.567A>C (p.Ser189=) n.54T>G c.963A>C (p.Ser321=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404555T= | CA1609976742 | TFAP2A,TFAP2A-AS2 | c.699A= (p.Ser233=) c.723A= (p.Ser241=) c.*214A= (n.*214A=) c.288A= (p.Ser96=) c.705A= (p.Ser235=) c.40A= c.717A= (p.Ser239=) c.431A= n.717A= n.688A= c.852A= (p.Ser284=) c.567A= (p.Ser189=) n.54T= c.963A= (p.Ser321=) | |
6 | g.10404556G>A | CA362701230 | TFAP2A,TFAP2A-AS2 | c.698C>T (p.Ser233Leu) c.722C>T (p.Ser241Leu) c.*213C>T (n.*213C>T) c.287C>T (p.Ser96Leu) c.704C>T (p.Ser235Leu) c.39C>T c.716C>T (p.Ser239Leu) c.430C>T n.716C>T n.687C>T c.851C>T (p.Ser284Leu) c.566C>T (p.Ser189Leu) n.55G>A c.962C>T (p.Ser321Leu) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404556G>C | CA362701232 | TFAP2A,TFAP2A-AS2 | c.698C>G (p.Ser233Ter) c.722C>G (p.Ser241Ter) c.*213C>G (n.*213C>G) c.287C>G (p.Ser96Ter) c.704C>G (p.Ser235Ter) c.39C>G c.716C>G (p.Ser239Ter) c.430C>G n.716C>G n.687C>G c.851C>G (p.Ser284Ter) c.566C>G (p.Ser189Ter) n.55G>C c.962C>G (p.Ser321Ter) | |
6 | g.10404556G= | CA1609976743 | TFAP2A,TFAP2A-AS2 | c.698C= (p.Ser233=) c.722C= (p.Ser241=) c.*213C= (n.*213C=) c.287C= (p.Ser96=) c.704C= (p.Ser235=) c.39C= c.716C= (p.Ser239=) c.430C= n.716C= n.687C= c.851C= (p.Ser284=) c.566C= (p.Ser189=) n.55G= c.962C= (p.Ser321=) | |
6 | g.10404556G>T | CA362701233 | TFAP2A,TFAP2A-AS2 | c.698C>A (p.Ser233Ter) c.722C>A (p.Ser241Ter) c.*213C>A (n.*213C>A) c.287C>A (p.Ser96Ter) c.704C>A (p.Ser235Ter) c.39C>A c.716C>A (p.Ser239Ter) c.430C>A n.716C>A n.687C>A c.851C>A (p.Ser284Ter) c.566C>A (p.Ser189Ter) n.55G>T c.962C>A (p.Ser321Ter) | |
6 | g.10404557A>C | CA362701235 | TFAP2A,TFAP2A-AS2 | c.697T>G (p.Ser233Ala) c.721T>G (p.Ser241Ala) c.*212T>G (n.*212T>G) c.286T>G (p.Ser96Ala) c.703T>G (p.Ser235Ala) c.38T>G c.715T>G (p.Ser239Ala) c.429T>G n.715T>G n.686T>G c.850T>G (p.Ser284Ala) c.565T>G (p.Ser189Ala) n.56A>C c.961T>G (p.Ser321Ala) | |
6 | g.10404557A>G | CA362701237 | TFAP2A,TFAP2A-AS2 | c.697T>C (p.Ser233Pro) c.721T>C (p.Ser241Pro) c.*212T>C (n.*212T>C) c.286T>C (p.Ser96Pro) c.703T>C (p.Ser235Pro) c.38T>C c.715T>C (p.Ser239Pro) c.429T>C n.715T>C n.686T>C c.850T>C (p.Ser284Pro) c.565T>C (p.Ser189Pro) n.56A>G c.961T>C (p.Ser321Pro) | ClinVar dbSNP |
6 | g.10404557A>T | CA362701238 | TFAP2A,TFAP2A-AS2 | c.697T>A (p.Ser233Thr) c.721T>A (p.Ser241Thr) c.*212T>A (n.*212T>A) c.286T>A (p.Ser96Thr) c.703T>A (p.Ser235Thr) c.38T>A c.715T>A (p.Ser239Thr) c.429T>A n.715T>A n.686T>A c.850T>A (p.Ser284Thr) c.565T>A (p.Ser189Thr) n.56A>T c.961T>A (p.Ser321Thr) | |
6 | g.10404558G>A | CA448717586 | TFAP2A,TFAP2A-AS2 | c.696C>T (p.Leu232=) c.720C>T (p.Leu240=) c.*211C>T (n.*211C>T) c.285C>T (p.Leu95=) c.702C>T (p.Leu234=) c.37C>T c.714C>T (p.Leu238=) c.428C>T n.714C>T n.685C>T c.849C>T (p.Leu283=) c.564C>T (p.Leu188=) n.57G>A c.960C>T (p.Leu320=) | gnomAD v4 |
6 | g.10404558G>C | CA448717587 | TFAP2A,TFAP2A-AS2 | c.696C>G (p.Leu232=) c.720C>G (p.Leu240=) c.*211C>G (n.*211C>G) c.285C>G (p.Leu95=) c.702C>G (p.Leu234=) c.37C>G c.714C>G (p.Leu238=) c.428C>G n.714C>G n.685C>G c.849C>G (p.Leu283=) c.564C>G (p.Leu188=) n.57G>C c.960C>G (p.Leu320=) | gnomAD v4 |
6 | g.10404558G>T | CA448717589 | TFAP2A,TFAP2A-AS2 | c.696C>A (p.Leu232=) c.720C>A (p.Leu240=) c.*211C>A (n.*211C>A) c.285C>A (p.Leu95=) c.702C>A (p.Leu234=) c.37C>A c.714C>A (p.Leu238=) c.428C>A n.714C>A n.685C>A c.849C>A (p.Leu283=) c.564C>A (p.Leu188=) n.57G>T c.960C>A (p.Leu320=) | |
6 | g.10404559A= | CA1609976744 | TFAP2A,TFAP2A-AS2 | c.695T= (p.Leu232=) c.719T= (p.Leu240=) c.*210T= (n.*210T=) c.284T= (p.Leu95=) c.701T= (p.Leu234=) c.36T= c.713T= (p.Leu238=) c.427T= n.713T= n.684T= c.848T= (p.Leu283=) c.563T= (p.Leu188=) n.58A= c.959T= (p.Leu320=) | |
6 | g.10404559A>C | CA362701240 | TFAP2A,TFAP2A-AS2 | c.695T>G (p.Leu232Arg) c.719T>G (p.Leu240Arg) c.*210T>G (n.*210T>G) c.284T>G (p.Leu95Arg) c.701T>G (p.Leu234Arg) c.36T>G c.713T>G (p.Leu238Arg) c.427T>G n.713T>G n.684T>G c.848T>G (p.Leu283Arg) c.563T>G (p.Leu188Arg) n.58A>C c.959T>G (p.Leu320Arg) | |
6 | g.10404559A>G | CA362701241 | TFAP2A,TFAP2A-AS2 | c.695T>C (p.Leu232Pro) c.719T>C (p.Leu240Pro) c.*210T>C (n.*210T>C) c.284T>C (p.Leu95Pro) c.701T>C (p.Leu234Pro) c.36T>C c.713T>C (p.Leu238Pro) c.427T>C n.713T>C n.684T>C c.848T>C (p.Leu283Pro) c.563T>C (p.Leu188Pro) n.58A>G c.959T>C (p.Leu320Pro) | ClinVar dbSNP |
6 | g.10404559A>T | CA362701243 | TFAP2A,TFAP2A-AS2 | c.695T>A (p.Leu232His) c.719T>A (p.Leu240His) c.*210T>A (n.*210T>A) c.284T>A (p.Leu95His) c.701T>A (p.Leu234His) c.36T>A c.713T>A (p.Leu238His) c.427T>A n.713T>A n.684T>A c.848T>A (p.Leu283His) c.563T>A (p.Leu188His) n.58A>T c.959T>A (p.Leu320His) | |
6 | g.10404560G>A | CA362701249 | TFAP2A,TFAP2A-AS2 | c.694C>T (p.Leu232Phe) c.718C>T (p.Leu240Phe) c.*209C>T (n.*209C>T) c.283C>T (p.Leu95Phe) c.700C>T (p.Leu234Phe) c.35C>T c.712C>T (p.Leu238Phe) c.426C>T n.712C>T n.683C>T c.847C>T (p.Leu283Phe) c.562C>T (p.Leu188Phe) n.59G>A c.958C>T (p.Leu320Phe) | gnomAD v4 |
6 | g.10404560G>C | CA362701247 | TFAP2A,TFAP2A-AS2 | c.694C>G (p.Leu232Val) c.718C>G (p.Leu240Val) c.*209C>G (n.*209C>G) c.283C>G (p.Leu95Val) c.700C>G (p.Leu234Val) c.35C>G c.712C>G (p.Leu238Val) c.426C>G n.712C>G n.683C>G c.847C>G (p.Leu283Val) c.562C>G (p.Leu188Val) n.59G>C c.958C>G (p.Leu320Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404560G= | CA1609976745 | TFAP2A,TFAP2A-AS2 | c.694C= (p.Leu232=) c.718C= (p.Leu240=) c.*209C= (n.*209C=) c.283C= (p.Leu95=) c.700C= (p.Leu234=) c.35C= c.712C= (p.Leu238=) c.426C= n.712C= n.683C= c.847C= (p.Leu283=) c.562C= (p.Leu188=) n.59G= c.958C= (p.Leu320=) | |
6 | g.10404560G>T | CA362701245 | TFAP2A,TFAP2A-AS2 | c.694C>A (p.Leu232Ile) c.718C>A (p.Leu240Ile) c.*209C>A (n.*209C>A) c.283C>A (p.Leu95Ile) c.700C>A (p.Leu234Ile) c.35C>A c.712C>A (p.Leu238Ile) c.426C>A n.712C>A n.683C>A c.847C>A (p.Leu283Ile) c.562C>A (p.Leu188Ile) n.59G>T c.958C>A (p.Leu320Ile) | dbSNP |
6 | g.10404561C>A | CA448717591 | TFAP2A,TFAP2A-AS2 | c.693G>T (p.Arg231=) c.717G>T (p.Arg239=) c.*208G>T (n.*208G>T) c.282G>T (p.Arg94=) c.699G>T (p.Arg233=) c.34G>T c.711G>T (p.Arg237=) c.425G>T n.711G>T n.682G>T c.846G>T (p.Arg282=) c.561G>T (p.Arg187=) n.60C>A c.957G>T (p.Arg319=) | |
6 | g.10404561C= | CA1609976746 | TFAP2A,TFAP2A-AS2 | c.693G= (p.Arg231=) c.717G= (p.Arg239=) c.*208G= (n.*208G=) c.282G= (p.Arg94=) c.699G= (p.Arg233=) c.34G= c.711G= (p.Arg237=) c.425G= n.711G= n.682G= c.846G= (p.Arg282=) c.561G= (p.Arg187=) n.60C= c.957G= (p.Arg319=) | |
6 | g.10404561C>G | CA448717592 | TFAP2A,TFAP2A-AS2 | c.693G>C (p.Arg231=) c.717G>C (p.Arg239=) c.*208G>C (n.*208G>C) c.282G>C (p.Arg94=) c.699G>C (p.Arg233=) c.34G>C c.711G>C (p.Arg237=) c.425G>C n.711G>C n.682G>C c.846G>C (p.Arg282=) c.561G>C (p.Arg187=) n.60C>G c.957G>C (p.Arg319=) | gnomAD v4 |
6 | g.10404561C>T | CA3631267 | TFAP2A,TFAP2A-AS2 | c.693G>A (p.Arg231=) c.717G>A (p.Arg239=) c.*208G>A (n.*208G>A) c.282G>A (p.Arg94=) c.699G>A (p.Arg233=) c.34G>A c.711G>A (p.Arg237=) c.425G>A n.711G>A n.682G>A c.846G>A (p.Arg282=) c.561G>A (p.Arg187=) n.60C>T c.957G>A (p.Arg319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404562C>A | CA362701252 | TFAP2A,TFAP2A-AS2 | c.692G>T (p.Arg231Leu) c.716G>T (p.Arg239Leu) c.*207G>T (n.*207G>T) c.281G>T (p.Arg94Leu) c.698G>T (p.Arg233Leu) c.33G>T c.710G>T (p.Arg237Leu) c.424G>T n.710G>T n.681G>T c.845G>T (p.Arg282Leu) c.560G>T (p.Arg187Leu) n.61C>A c.956G>T (p.Arg319Leu) | |
6 | g.10404562C= | CA1609976747 | TFAP2A,TFAP2A-AS2 | c.692G= (p.Arg231=) c.716G= (p.Arg239=) c.*207G= (n.*207G=) c.281G= (p.Arg94=) c.698G= (p.Arg233=) c.33G= c.710G= (p.Arg237=) c.424G= n.710G= n.681G= c.845G= (p.Arg282=) c.560G= (p.Arg187=) n.61C= c.956G= (p.Arg319=) | |
6 | g.10404562C>G | CA134049079 | TFAP2A,TFAP2A-AS2 | c.692G>C (p.Arg231Pro) c.716G>C (p.Arg239Pro) c.*207G>C (n.*207G>C) c.281G>C (p.Arg94Pro) c.698G>C (p.Arg233Pro) c.33G>C c.710G>C (p.Arg237Pro) c.424G>C n.710G>C n.681G>C c.845G>C (p.Arg282Pro) c.560G>C (p.Arg187Pro) n.61C>G c.956G>C (p.Arg319Pro) | ClinVar dbSNP |
6 | g.10404562C>T | CA004722 | TFAP2A,TFAP2A-AS2 | c.692G>A (p.Arg231Gln) c.716G>A (p.Arg239Gln) c.*207G>A (n.*207G>A) c.281G>A (p.Arg94Gln) c.698G>A (p.Arg233Gln) c.33G>A c.710G>A (p.Arg237Gln) c.424G>A n.710G>A n.681G>A c.845G>A (p.Arg282Gln) c.560G>A (p.Arg187Gln) n.61C>T c.956G>A (p.Arg319Gln) | ClinVar dbSNP |
6 | g.10404563G>A | CA362701255 | TFAP2A,TFAP2A-AS2 | c.691C>T (p.Arg231Trp) c.715C>T (p.Arg239Trp) c.*206C>T (n.*206C>T) c.280C>T (p.Arg94Trp) c.697C>T (p.Arg233Trp) c.32C>T c.709C>T (p.Arg237Trp) c.423C>T n.709C>T n.680C>T c.844C>T (p.Arg282Trp) c.559C>T (p.Arg187Trp) n.62G>A c.955C>T (p.Arg319Trp) | |
6 | g.10404563G>C | CA134049088 | TFAP2A,TFAP2A-AS2 | c.691C>G (p.Arg231Gly) c.715C>G (p.Arg239Gly) c.*206C>G (n.*206C>G) c.280C>G (p.Arg94Gly) c.697C>G (p.Arg233Gly) c.32C>G c.709C>G (p.Arg237Gly) c.423C>G n.709C>G n.680C>G c.844C>G (p.Arg282Gly) c.559C>G (p.Arg187Gly) n.62G>C c.955C>G (p.Arg319Gly) | dbSNP |
6 | g.10404563G= | CA1609976748 | TFAP2A,TFAP2A-AS2 | c.691C= (p.Arg231=) c.715C= (p.Arg239=) c.*206C= (n.*206C=) c.280C= (p.Arg94=) c.697C= (p.Arg233=) c.32C= c.709C= (p.Arg237=) c.423C= n.709C= n.680C= c.844C= (p.Arg282=) c.559C= (p.Arg187=) n.62G= c.955C= (p.Arg319=) | |
6 | g.10404563G>T | CA448717595 | TFAP2A,TFAP2A-AS2 | c.691C>A (p.Arg231=) c.715C>A (p.Arg239=) c.*206C>A (n.*206C>A) c.280C>A (p.Arg94=) c.697C>A (p.Arg233=) c.32C>A c.709C>A (p.Arg237=) c.423C>A n.709C>A n.680C>A c.844C>A (p.Arg282=) c.559C>A (p.Arg187=) n.62G>T c.955C>A (p.Arg319=) | gnomAD v4 |
6 | g.10404564C>A | CA448717597 | TFAP2A,TFAP2A-AS2 | c.690G>T (p.Arg230=) c.714G>T (p.Arg238=) c.*205G>T (n.*205G>T) c.279G>T (p.Arg93=) c.696G>T (p.Arg232=) c.31G>T c.708G>T (p.Arg236=) c.422G>T n.708G>T n.679G>T c.843G>T (p.Arg281=) c.558G>T (p.Arg186=) n.63C>A c.954G>T (p.Arg318=) | |
6 | g.10404564C= | CA1609976749 | TFAP2A,TFAP2A-AS2 | c.690G= (p.Arg230=) c.714G= (p.Arg238=) c.*205G= (n.*205G=) c.279G= (p.Arg93=) c.696G= (p.Arg232=) c.31G= c.708G= (p.Arg236=) c.422G= n.708G= n.679G= c.843G= (p.Arg281=) c.558G= (p.Arg186=) n.63C= c.954G= (p.Arg318=) | |
6 | g.10404564C>G | CA448717600 | TFAP2A,TFAP2A-AS2 | c.690G>C (p.Arg230=) c.714G>C (p.Arg238=) c.*205G>C (n.*205G>C) c.279G>C (p.Arg93=) c.696G>C (p.Arg232=) c.31G>C c.708G>C (p.Arg236=) c.422G>C n.708G>C n.679G>C c.843G>C (p.Arg281=) c.558G>C (p.Arg186=) n.63C>G c.954G>C (p.Arg318=) | dbSNP |
6 | g.10404564C>T | CA3631268 | TFAP2A,TFAP2A-AS2 | c.690G>A (p.Arg230=) c.714G>A (p.Arg238=) c.*205G>A (n.*205G>A) c.279G>A (p.Arg93=) c.696G>A (p.Arg232=) c.31G>A c.708G>A (p.Arg236=) c.422G>A n.708G>A n.679G>A c.843G>A (p.Arg281=) c.558G>A (p.Arg186=) n.63C>T c.954G>A (p.Arg318=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404565del | CA645560345 | TFAP2A,TFAP2A-AS2 | c.690del (p.Arg231GlyfsTer29) c.714del (p.Arg239GlyfsTer29) c.*205del (n.*205del) c.279del (p.Arg94GlyfsTer29) c.696del (p.Arg233GlyfsTer29) c.31del c.708del (p.Arg237GlyfsTer29) c.422del n.708del n.679del c.843del (p.Arg282GlyfsTer29) c.558del (p.Arg187GlyfsTer29) n.64del c.954del (p.Arg319GlyfsTer29) | COSMIC COSMIC COSMIC |
6 | g.10404565_10404576del | CA2580074210 | TFAP2A,TFAP2A-AS2 | c.679_690del (p.Glu227_Arg230del) c.703_714del (p.Glu235_Arg238del) c.*194_*205del (n.*194_*205del) c.268_279del (p.Glu90_Arg93del) c.685_696del (p.Glu229_Arg232del) c.20_31del c.697_708del (p.Glu233_Arg236del) c.411_422del n.697_708del n.668_679del c.832_843del (p.Glu278_Arg281del) c.547_558del (p.Glu183_Arg186del) n.64_75del c.943_954del (p.Glu315_Arg318del) | ClinVar |
6 | g.10404565C>A | CA362701259 | TFAP2A,TFAP2A-AS2 | c.689G>T (p.Arg230Leu) c.713G>T (p.Arg238Leu) c.*204G>T (n.*204G>T) c.278G>T (p.Arg93Leu) c.695G>T (p.Arg232Leu) c.30G>T c.707G>T (p.Arg236Leu) c.421G>T n.707G>T n.678G>T c.842G>T (p.Arg281Leu) c.557G>T (p.Arg186Leu) n.64C>A c.953G>T (p.Arg318Leu) | |
6 | g.10404565C>G | CA362701261 | TFAP2A,TFAP2A-AS2 | c.689G>C (p.Arg230Pro) c.713G>C (p.Arg238Pro) c.*204G>C (n.*204G>C) c.278G>C (p.Arg93Pro) c.695G>C (p.Arg232Pro) c.30G>C c.707G>C (p.Arg236Pro) c.421G>C n.707G>C n.678G>C c.842G>C (p.Arg281Pro) c.557G>C (p.Arg186Pro) n.64C>G c.953G>C (p.Arg318Pro) | ClinVar dbSNP |
6 | g.10404565C>T | CA362701263 | TFAP2A,TFAP2A-AS2 | c.689G>A (p.Arg230Gln) c.713G>A (p.Arg238Gln) c.*204G>A (n.*204G>A) c.278G>A (p.Arg93Gln) c.695G>A (p.Arg232Gln) c.30G>A c.707G>A (p.Arg236Gln) c.421G>A n.707G>A n.678G>A c.842G>A (p.Arg281Gln) c.557G>A (p.Arg186Gln) n.64C>T c.953G>A (p.Arg318Gln) | |
6 | g.10404566G>A | CA362701265 | TFAP2A,TFAP2A-AS2 | c.688C>T (p.Arg230Trp) c.712C>T (p.Arg238Trp) c.*203C>T (n.*203C>T) c.277C>T (p.Arg93Trp) c.694C>T (p.Arg232Trp) c.29C>T c.706C>T (p.Arg236Trp) c.420C>T n.706C>T n.677C>T c.841C>T (p.Arg281Trp) c.556C>T (p.Arg186Trp) n.65G>A c.952C>T (p.Arg318Trp) | ClinVar dbSNP COSMIC COSMIC COSMIC |
6 | g.10404566G>C | CA362701267 | TFAP2A,TFAP2A-AS2 | c.688C>G (p.Arg230Gly) c.712C>G (p.Arg238Gly) c.*203C>G (n.*203C>G) c.277C>G (p.Arg93Gly) c.694C>G (p.Arg232Gly) c.29C>G c.706C>G (p.Arg236Gly) c.420C>G n.706C>G n.677C>G c.841C>G (p.Arg281Gly) c.556C>G (p.Arg186Gly) n.65G>C c.952C>G (p.Arg318Gly) | |
6 | g.10404566G= | CA1609976750 | TFAP2A,TFAP2A-AS2 | c.688C= (p.Arg230=) c.712C= (p.Arg238=) c.*203C= (n.*203C=) c.277C= (p.Arg93=) c.694C= (p.Arg232=) c.29C= c.706C= (p.Arg236=) c.420C= n.706C= n.677C= c.841C= (p.Arg281=) c.556C= (p.Arg186=) n.65G= c.952C= (p.Arg318=) | |
6 | g.10404566G>T | CA448717602 | TFAP2A,TFAP2A-AS2 | c.688C>A (p.Arg230=) c.712C>A (p.Arg238=) c.*203C>A (n.*203C>A) c.277C>A (p.Arg93=) c.694C>A (p.Arg232=) c.29C>A c.706C>A (p.Arg236=) c.420C>A n.706C>A n.677C>A c.841C>A (p.Arg281=) c.556C>A (p.Arg186=) n.65G>T c.952C>A (p.Arg318=) | |
6 | g.10404567C>A | CA362701268 | TFAP2A,TFAP2A-AS2 | c.687G>T (p.Gln229His) c.711G>T (p.Gln237His) c.*202G>T (n.*202G>T) c.276G>T (p.Gln92His) c.693G>T (p.Gln231His) c.28G>T c.705G>T (p.Gln235His) c.419G>T n.705G>T n.676G>T c.840G>T (p.Gln280His) c.555G>T (p.Gln185His) n.66C>A c.951G>T (p.Gln317His) | |
6 | g.10404567C>G | CA362701270 | TFAP2A,TFAP2A-AS2 | c.687G>C (p.Gln229His) c.711G>C (p.Gln237His) c.*202G>C (n.*202G>C) c.276G>C (p.Gln92His) c.693G>C (p.Gln231His) c.28G>C c.705G>C (p.Gln235His) c.419G>C n.705G>C n.676G>C c.840G>C (p.Gln280His) c.555G>C (p.Gln185His) n.66C>G c.951G>C (p.Gln317His) | |
6 | g.10404567C>T | CA448717603 | TFAP2A,TFAP2A-AS2 | c.687G>A (p.Gln229=) c.711G>A (p.Gln237=) c.*202G>A (n.*202G>A) c.276G>A (p.Gln92=) c.693G>A (p.Gln231=) c.28G>A c.705G>A (p.Gln235=) c.419G>A n.705G>A n.676G>A c.840G>A (p.Gln280=) c.555G>A (p.Gln185=) n.66C>T c.951G>A (p.Gln317=) | gnomAD v4 |
6 | g.10404568T>A | CA362701276 | TFAP2A,TFAP2A-AS2 | c.686A>T (p.Gln229Leu) c.710A>T (p.Gln237Leu) c.*201A>T (n.*201A>T) c.275A>T (p.Gln92Leu) c.692A>T (p.Gln231Leu) c.27A>T c.704A>T (p.Gln235Leu) c.418A>T n.704A>T n.675A>T c.839A>T (p.Gln280Leu) c.554A>T (p.Gln185Leu) n.67T>A c.950A>T (p.Gln317Leu) | dbSNP |
6 | g.10404568T>C | CA362701274 | TFAP2A,TFAP2A-AS2 | c.686A>G (p.Gln229Arg) c.710A>G (p.Gln237Arg) c.*201A>G (n.*201A>G) c.275A>G (p.Gln92Arg) c.692A>G (p.Gln231Arg) c.27A>G c.704A>G (p.Gln235Arg) c.418A>G n.704A>G n.675A>G c.839A>G (p.Gln280Arg) c.554A>G (p.Gln185Arg) n.67T>C c.950A>G (p.Gln317Arg) | gnomAD v4 |
6 | g.10404568T>G | CA362701273 | TFAP2A,TFAP2A-AS2 | c.686A>C (p.Gln229Pro) c.710A>C (p.Gln237Pro) c.*201A>C (n.*201A>C) c.275A>C (p.Gln92Pro) c.692A>C (p.Gln231Pro) c.27A>C c.704A>C (p.Gln235Pro) c.418A>C n.704A>C n.675A>C c.839A>C (p.Gln280Pro) c.554A>C (p.Gln185Pro) n.67T>G c.950A>C (p.Gln317Pro) | |
6 | g.10404568T= | CA1609976751 | TFAP2A,TFAP2A-AS2 | c.686A= (p.Gln229=) c.710A= (p.Gln237=) c.*201A= (n.*201A=) c.275A= (p.Gln92=) c.692A= (p.Gln231=) c.27A= c.704A= (p.Gln235=) c.418A= n.704A= n.675A= c.839A= (p.Gln280=) c.554A= (p.Gln185=) n.67T= c.950A= (p.Gln317=) | |
6 | g.10404569G>A | CA362701277 | TFAP2A,TFAP2A-AS2 | c.685C>T (p.Gln229Ter) c.709C>T (p.Gln237Ter) c.*200C>T (n.*200C>T) c.274C>T (p.Gln92Ter) c.691C>T (p.Gln231Ter) c.26C>T c.703C>T (p.Gln235Ter) c.417C>T n.703C>T n.674C>T c.838C>T (p.Gln280Ter) c.553C>T (p.Gln185Ter) n.68G>A c.949C>T (p.Gln317Ter) | |
6 | g.10404569G>C | CA362701279 | TFAP2A,TFAP2A-AS2 | c.685C>G (p.Gln229Glu) c.709C>G (p.Gln237Glu) c.*200C>G (n.*200C>G) c.274C>G (p.Gln92Glu) c.691C>G (p.Gln231Glu) c.26C>G c.703C>G (p.Gln235Glu) c.417C>G n.703C>G n.674C>G c.838C>G (p.Gln280Glu) c.553C>G (p.Gln185Glu) n.68G>C c.949C>G (p.Gln317Glu) | |
6 | g.10404569G>T | CA362701281 | TFAP2A,TFAP2A-AS2 | c.685C>A (p.Gln229Lys) c.709C>A (p.Gln237Lys) c.*200C>A (n.*200C>A) c.274C>A (p.Gln92Lys) c.691C>A (p.Gln231Lys) c.26C>A c.703C>A (p.Gln235Lys) c.417C>A n.703C>A n.674C>A c.838C>A (p.Gln280Lys) c.553C>A (p.Gln185Lys) n.68G>T c.949C>A (p.Gln317Lys) | |
6 | g.10404570C>A | CA448717605 | TFAP2A,TFAP2A-AS2 | c.684G>T (p.Val228=) c.708G>T (p.Val236=) c.*199G>T (n.*199G>T) c.273G>T (p.Val91=) c.690G>T (p.Val230=) c.25G>T c.702G>T (p.Val234=) c.416G>T n.702G>T n.673G>T c.837G>T (p.Val279=) c.552G>T (p.Val184=) n.69C>A c.948G>T (p.Val316=) | gnomAD v4 |
6 | g.10404570C= | CA1609976752 | TFAP2A,TFAP2A-AS2 | c.684G= (p.Val228=) c.708G= (p.Val236=) c.*199G= (n.*199G=) c.273G= (p.Val91=) c.690G= (p.Val230=) c.25G= c.702G= (p.Val234=) c.416G= n.702G= n.673G= c.837G= (p.Val279=) c.552G= (p.Val184=) n.69C= c.948G= (p.Val316=) | |
6 | g.10404570C>G | CA448717608 | TFAP2A,TFAP2A-AS2 | c.684G>C (p.Val228=) c.708G>C (p.Val236=) c.*199G>C (n.*199G>C) c.273G>C (p.Val91=) c.690G>C (p.Val230=) c.25G>C c.702G>C (p.Val234=) c.416G>C n.702G>C n.673G>C c.837G>C (p.Val279=) c.552G>C (p.Val184=) n.69C>G c.948G>C (p.Val316=) | |
6 | g.10404570C>T | CA448717606 | TFAP2A,TFAP2A-AS2 | c.684G>A (p.Val228=) c.708G>A (p.Val236=) c.*199G>A (n.*199G>A) c.273G>A (p.Val91=) c.690G>A (p.Val230=) c.25G>A c.702G>A (p.Val234=) c.416G>A n.702G>A n.673G>A c.837G>A (p.Val279=) c.552G>A (p.Val184=) n.69C>T c.948G>A (p.Val316=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404571A>C | CA362701283 | TFAP2A,TFAP2A-AS2 | c.683T>G (p.Val228Gly) c.707T>G (p.Val236Gly) c.*198T>G (n.*198T>G) c.272T>G (p.Val91Gly) c.689T>G (p.Val230Gly) c.24T>G c.701T>G (p.Val234Gly) c.415T>G n.701T>G n.672T>G c.836T>G (p.Val279Gly) c.551T>G (p.Val184Gly) n.70A>C c.947T>G (p.Val316Gly) | |
6 | g.10404571A>G | CA362701285 | TFAP2A,TFAP2A-AS2 | c.683T>C (p.Val228Ala) c.707T>C (p.Val236Ala) c.*198T>C (n.*198T>C) c.272T>C (p.Val91Ala) c.689T>C (p.Val230Ala) c.24T>C c.701T>C (p.Val234Ala) c.415T>C n.701T>C n.672T>C c.836T>C (p.Val279Ala) c.551T>C (p.Val184Ala) n.70A>G c.947T>C (p.Val316Ala) | |
6 | g.10404571A>T | CA362701286 | TFAP2A,TFAP2A-AS2 | c.683T>A (p.Val228Glu) c.707T>A (p.Val236Glu) c.*198T>A (n.*198T>A) c.272T>A (p.Val91Glu) c.689T>A (p.Val230Glu) c.24T>A c.701T>A (p.Val234Glu) c.415T>A n.701T>A n.672T>A c.836T>A (p.Val279Glu) c.551T>A (p.Val184Glu) n.70A>T c.947T>A (p.Val316Glu) | |
6 | g.10404572C>A | CA362701289 | TFAP2A,TFAP2A-AS2 | c.682G>T (p.Val228Leu) c.706G>T (p.Val236Leu) c.*197G>T (n.*197G>T) c.271G>T (p.Val91Leu) c.688G>T (p.Val230Leu) c.23G>T c.700G>T (p.Val234Leu) c.414G>T n.700G>T n.671G>T c.835G>T (p.Val279Leu) c.550G>T (p.Val184Leu) n.71C>A c.946G>T (p.Val316Leu) | |
6 | g.10404572C>G | CA362701291 | TFAP2A,TFAP2A-AS2 | c.682G>C (p.Val228Leu) c.706G>C (p.Val236Leu) c.*197G>C (n.*197G>C) c.271G>C (p.Val91Leu) c.688G>C (p.Val230Leu) c.23G>C c.700G>C (p.Val234Leu) c.414G>C n.700G>C n.671G>C c.835G>C (p.Val279Leu) c.550G>C (p.Val184Leu) n.71C>G c.946G>C (p.Val316Leu) | |
6 | g.10404572C>T | CA362701292 | TFAP2A,TFAP2A-AS2 | c.682G>A (p.Val228Met) c.706G>A (p.Val236Met) c.*197G>A (n.*197G>A) c.271G>A (p.Val91Met) c.688G>A (p.Val230Met) c.23G>A c.700G>A (p.Val234Met) c.414G>A n.700G>A n.671G>A c.835G>A (p.Val279Met) c.550G>A (p.Val184Met) n.71C>T c.946G>A (p.Val316Met) | gnomAD v4 |
6 | g.10404573T>A | CA362701294 | TFAP2A,TFAP2A-AS2 | c.681A>T (p.Glu227Asp) c.705A>T (p.Glu235Asp) c.*196A>T (n.*196A>T) c.270A>T (p.Glu90Asp) c.687A>T (p.Glu229Asp) c.22A>T c.699A>T (p.Glu233Asp) c.413A>T n.699A>T n.670A>T c.834A>T (p.Glu278Asp) c.549A>T (p.Glu183Asp) n.72T>A c.945A>T (p.Glu315Asp) | |
6 | g.10404573T>C | CA448717610 | TFAP2A,TFAP2A-AS2 | c.681A>G (p.Glu227=) c.705A>G (p.Glu235=) c.*196A>G (n.*196A>G) c.270A>G (p.Glu90=) c.687A>G (p.Glu229=) c.22A>G c.699A>G (p.Glu233=) c.413A>G n.699A>G n.670A>G c.834A>G (p.Glu278=) c.549A>G (p.Glu183=) n.72T>C c.945A>G (p.Glu315=) | |
6 | g.10404573T>G | CA362701296 | TFAP2A,TFAP2A-AS2 | c.681A>C (p.Glu227Asp) c.705A>C (p.Glu235Asp) c.*196A>C (n.*196A>C) c.270A>C (p.Glu90Asp) c.687A>C (p.Glu229Asp) c.22A>C c.699A>C (p.Glu233Asp) c.413A>C n.699A>C n.670A>C c.834A>C (p.Glu278Asp) c.549A>C (p.Glu183Asp) n.72T>G c.945A>C (p.Glu315Asp) | |
6 | g.10404574dup | CA645560346 | TFAP2A,TFAP2A-AS2 | c.681dup (p.Val228SerfsTer26) c.705dup (p.Val236SerfsTer26) c.*196dup (n.*196dup) c.270dup (p.Val91SerfsTer26) c.687dup (p.Val230SerfsTer26) c.22dup c.699dup (p.Val234SerfsTer26) c.413dup n.699dup n.670dup c.834dup (p.Val279SerfsTer26) c.549dup (p.Val184SerfsTer26) n.73dup c.945dup (p.Val316SerfsTer26) | COSMIC COSMIC COSMIC |
6 | g.10404574T>A | CA362701298 | TFAP2A,TFAP2A-AS2 | c.680A>T (p.Glu227Val) c.704A>T (p.Glu235Val) c.*195A>T (n.*195A>T) c.269A>T (p.Glu90Val) c.686A>T (p.Glu229Val) c.21A>T c.698A>T (p.Glu233Val) c.412A>T n.698A>T n.669A>T c.833A>T (p.Glu278Val) c.548A>T (p.Glu183Val) n.73T>A c.944A>T (p.Glu315Val) | |
6 | g.10404574T>C | CA362701300 | TFAP2A,TFAP2A-AS2 | c.680A>G (p.Glu227Gly) c.704A>G (p.Glu235Gly) c.*195A>G (n.*195A>G) c.269A>G (p.Glu90Gly) c.686A>G (p.Glu229Gly) c.21A>G c.698A>G (p.Glu233Gly) c.412A>G n.698A>G n.669A>G c.833A>G (p.Glu278Gly) c.548A>G (p.Glu183Gly) n.73T>C c.944A>G (p.Glu315Gly) | |
6 | g.10404574T>G | CA362701302 | TFAP2A,TFAP2A-AS2 | c.680A>C (p.Glu227Ala) c.704A>C (p.Glu235Ala) c.*195A>C (n.*195A>C) c.269A>C (p.Glu90Ala) c.686A>C (p.Glu229Ala) c.21A>C c.698A>C (p.Glu233Ala) c.412A>C n.698A>C n.669A>C c.833A>C (p.Glu278Ala) c.548A>C (p.Glu183Ala) n.73T>G c.944A>C (p.Glu315Ala) | |
6 | g.10404575C>A | CA362701306 | TFAP2A,TFAP2A-AS2 | c.679G>T (p.Glu227Ter) c.703G>T (p.Glu235Ter) c.*194G>T (n.*194G>T) c.268G>T (p.Glu90Ter) c.685G>T (p.Glu229Ter) c.20G>T c.697G>T (p.Glu233Ter) c.411G>T n.697G>T n.668G>T c.832G>T (p.Glu278Ter) c.547G>T (p.Glu183Ter) n.74C>A c.943G>T (p.Glu315Ter) | |
6 | g.10404575C= | CA1609976753 | TFAP2A,TFAP2A-AS2 | c.679G= (p.Glu227=) c.703G= (p.Glu235=) c.*194G= (n.*194G=) c.268G= (p.Glu90=) c.685G= (p.Glu229=) c.20G= c.697G= (p.Glu233=) c.411G= n.697G= n.668G= c.832G= (p.Glu278=) c.547G= (p.Glu183=) n.74C= c.943G= (p.Glu315=) | |
6 | g.10404575C>G | CA362701308 | TFAP2A,TFAP2A-AS2 | c.679G>C (p.Glu227Gln) c.703G>C (p.Glu235Gln) c.*194G>C (n.*194G>C) c.268G>C (p.Glu90Gln) c.685G>C (p.Glu229Gln) c.20G>C c.697G>C (p.Glu233Gln) c.411G>C n.697G>C n.668G>C c.832G>C (p.Glu278Gln) c.547G>C (p.Glu183Gln) n.74C>G c.943G>C (p.Glu315Gln) | |
6 | g.10404575C>T | CA362701304 | TFAP2A,TFAP2A-AS2 | c.679G>A (p.Glu227Lys) c.703G>A (p.Glu235Lys) c.*194G>A (n.*194G>A) c.268G>A (p.Glu90Lys) c.685G>A (p.Glu229Lys) c.20G>A c.697G>A (p.Glu233Lys) c.411G>A n.697G>A n.668G>A c.832G>A (p.Glu278Lys) c.547G>A (p.Glu183Lys) n.74C>T c.943G>A (p.Glu315Lys) | ClinVar dbSNP |
6 | g.10404576C>A | CA448717611 | TFAP2A,TFAP2A-AS2 | c.678G>T (p.Ala226=) c.702G>T (p.Ala234=) c.*193G>T (n.*193G>T) c.267G>T (p.Ala89=) c.684G>T (p.Ala228=) c.19G>T c.696G>T (p.Ala232=) c.410G>T n.696G>T n.667G>T c.831G>T (p.Ala277=) c.546G>T (p.Ala182=) n.75C>A c.942G>T (p.Ala314=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404576C= | CA1609976754 | TFAP2A,TFAP2A-AS2 | c.678G= (p.Ala226=) c.702G= (p.Ala234=) c.*193G= (n.*193G=) c.267G= (p.Ala89=) c.684G= (p.Ala228=) c.19G= c.696G= (p.Ala232=) c.410G= n.696G= n.667G= c.831G= (p.Ala277=) c.546G= (p.Ala182=) n.75C= c.942G= (p.Ala314=) | |
6 | g.10404576C>G | CA448717612 | TFAP2A,TFAP2A-AS2 | c.678G>C (p.Ala226=) c.702G>C (p.Ala234=) c.*193G>C (n.*193G>C) c.267G>C (p.Ala89=) c.684G>C (p.Ala228=) c.19G>C c.696G>C (p.Ala232=) c.410G>C n.696G>C n.667G>C c.831G>C (p.Ala277=) c.546G>C (p.Ala182=) n.75C>G c.942G>C (p.Ala314=) | gnomAD v4 |
6 | g.10404576C>T | CA134049094 | TFAP2A,TFAP2A-AS2 | c.678G>A (p.Ala226=) c.702G>A (p.Ala234=) c.*193G>A (n.*193G>A) c.267G>A (p.Ala89=) c.684G>A (p.Ala228=) c.19G>A c.696G>A (p.Ala232=) c.410G>A n.696G>A n.667G>A c.831G>A (p.Ala277=) c.546G>A (p.Ala182=) n.75C>T c.942G>A (p.Ala314=) | ClinVar dbSNP gnomAD v4 |
6 | g.10404577G>A | CA362701311 | TFAP2A,TFAP2A-AS2 | c.677C>T (p.Ala226Val) c.701C>T (p.Ala234Val) c.*192C>T (n.*192C>T) c.266C>T (p.Ala89Val) c.683C>T (p.Ala228Val) c.18C>T c.695C>T (p.Ala232Val) c.409C>T n.695C>T n.666C>T c.830C>T (p.Ala277Val) c.545C>T (p.Ala182Val) n.76G>A c.941C>T (p.Ala314Val) | |
6 | g.10404577G>C | CA362701312 | TFAP2A,TFAP2A-AS2 | c.677C>G (p.Ala226Gly) c.701C>G (p.Ala234Gly) c.*192C>G (n.*192C>G) c.266C>G (p.Ala89Gly) c.683C>G (p.Ala228Gly) c.18C>G c.695C>G (p.Ala232Gly) c.409C>G n.695C>G n.666C>G c.830C>G (p.Ala277Gly) c.545C>G (p.Ala182Gly) n.76G>C c.941C>G (p.Ala314Gly) | gnomAD v4 |
6 | g.10404577G>T | CA362701314 | TFAP2A,TFAP2A-AS2 | c.677C>A (p.Ala226Glu) c.701C>A (p.Ala234Glu) c.*192C>A (n.*192C>A) c.266C>A (p.Ala89Glu) c.683C>A (p.Ala228Glu) c.18C>A c.695C>A (p.Ala232Glu) c.409C>A n.695C>A n.666C>A c.830C>A (p.Ala277Glu) c.545C>A (p.Ala182Glu) n.76G>T c.941C>A (p.Ala314Glu) | gnomAD v4 |
6 | g.10404578C>A | CA362701316 | TFAP2A,TFAP2A-AS2 | c.676G>T (p.Ala226Ser) c.700G>T (p.Ala234Ser) c.*191G>T (n.*191G>T) c.265G>T (p.Ala89Ser) c.682G>T (p.Ala228Ser) c.17G>T c.694G>T (p.Ala232Ser) c.408G>T n.694G>T n.665G>T c.829G>T (p.Ala277Ser) c.544G>T (p.Ala182Ser) n.77C>A c.940G>T (p.Ala314Ser) | |
6 | g.10404578C= | CA1609976755 | TFAP2A,TFAP2A-AS2 | c.676G= (p.Ala226=) c.700G= (p.Ala234=) c.*191G= (n.*191G=) c.265G= (p.Ala89=) c.682G= (p.Ala228=) c.17G= c.694G= (p.Ala232=) c.408G= n.694G= n.665G= c.829G= (p.Ala277=) c.544G= (p.Ala182=) n.77C= c.940G= (p.Ala314=) | |
6 | g.10404578C>G | CA362701318 | TFAP2A,TFAP2A-AS2 | c.676G>C (p.Ala226Pro) c.700G>C (p.Ala234Pro) c.*191G>C (n.*191G>C) c.265G>C (p.Ala89Pro) c.682G>C (p.Ala228Pro) c.17G>C c.694G>C (p.Ala232Pro) c.408G>C n.694G>C n.665G>C c.829G>C (p.Ala277Pro) c.544G>C (p.Ala182Pro) n.77C>G c.940G>C (p.Ala314Pro) | |
6 | g.10404578C>T | CA362701320 | TFAP2A,TFAP2A-AS2 | c.676G>A (p.Ala226Thr) c.700G>A (p.Ala234Thr) c.*191G>A (n.*191G>A) c.265G>A (p.Ala89Thr) c.682G>A (p.Ala228Thr) c.17G>A c.694G>A (p.Ala232Thr) c.408G>A n.694G>A n.665G>A c.829G>A (p.Ala277Thr) c.544G>A (p.Ala182Thr) n.77C>T c.940G>A (p.Ala314Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404579C>A | CA448717613 | TFAP2A,TFAP2A-AS2 | c.675G>T (p.Val225=) c.699G>T (p.Val233=) c.*190G>T (n.*190G>T) c.264G>T (p.Val88=) c.681G>T (p.Val227=) c.16G>T c.693G>T (p.Val231=) c.407G>T n.693G>T n.664G>T c.828G>T (p.Val276=) c.543G>T (p.Val181=) n.78C>A c.939G>T (p.Val313=) | |
6 | g.10404579C>G | CA448717614 | TFAP2A,TFAP2A-AS2 | c.675G>C (p.Val225=) c.699G>C (p.Val233=) c.*190G>C (n.*190G>C) c.264G>C (p.Val88=) c.681G>C (p.Val227=) c.16G>C c.693G>C (p.Val231=) c.407G>C n.693G>C n.664G>C c.828G>C (p.Val276=) c.543G>C (p.Val181=) n.78C>G c.939G>C (p.Val313=) | gnomAD v4 |
6 | g.10404579C>T | CA448717615 | TFAP2A,TFAP2A-AS2 | c.675G>A (p.Val225=) c.699G>A (p.Val233=) c.*190G>A (n.*190G>A) c.264G>A (p.Val88=) c.681G>A (p.Val227=) c.16G>A c.693G>A (p.Val231=) c.407G>A n.693G>A n.664G>A c.828G>A (p.Val276=) c.543G>A (p.Val181=) n.78C>T c.939G>A (p.Val313=) | |
6 | g.10404580A>C | CA362701322 | TFAP2A,TFAP2A-AS2 | c.674T>G (p.Val225Gly) c.698T>G (p.Val233Gly) c.*189T>G (n.*189T>G) c.263T>G (p.Val88Gly) c.680T>G (p.Val227Gly) c.15T>G c.692T>G (p.Val231Gly) c.406T>G n.692T>G n.663T>G c.827T>G (p.Val276Gly) c.542T>G (p.Val181Gly) n.79A>C c.938T>G (p.Val313Gly) | |
6 | g.10404580A>G | CA362701324 | TFAP2A,TFAP2A-AS2 | c.674T>C (p.Val225Ala) c.698T>C (p.Val233Ala) c.*189T>C (n.*189T>C) c.263T>C (p.Val88Ala) c.680T>C (p.Val227Ala) c.15T>C c.692T>C (p.Val231Ala) c.406T>C n.692T>C n.663T>C c.827T>C (p.Val276Ala) c.542T>C (p.Val181Ala) n.79A>G c.938T>C (p.Val313Ala) | gnomAD v4 |
6 | g.10404580A>T | CA362701326 | TFAP2A,TFAP2A-AS2 | c.674T>A (p.Val225Glu) c.698T>A (p.Val233Glu) c.*189T>A (n.*189T>A) c.263T>A (p.Val88Glu) c.680T>A (p.Val227Glu) c.15T>A c.692T>A (p.Val231Glu) c.406T>A n.692T>A n.663T>A c.827T>A (p.Val276Glu) c.542T>A (p.Val181Glu) n.79A>T c.938T>A (p.Val313Glu) | |
6 | g.10404583_10404588del | CA2695205973 | TFAP2A,TFAP2A-AS2 | c.669_674del (p.Thr224_Val225del) c.693_698del (p.Thr232_Val233del) c.*184_*189del (n.*184_*189del) c.258_263del (p.Thr87_Val88del) c.675_680del (p.Thr226_Val227del) c.10_15del c.687_692del (p.Thr230_Val231del) c.401_406del n.687_692del n.658_663del c.822_827del (p.Thr275_Val276del) c.537_542del (p.Thr180_Val181del) n.82_87del c.933_938del (p.Thr312_Val313del) | |
6 | g.10404581C>A | CA362701328 | TFAP2A,TFAP2A-AS2 | c.673G>T (p.Val225Leu) c.697G>T (p.Val233Leu) c.*188G>T (n.*188G>T) c.262G>T (p.Val88Leu) c.679G>T (p.Val227Leu) c.14G>T c.691G>T (p.Val231Leu) c.405G>T n.691G>T n.662G>T c.826G>T (p.Val276Leu) c.541G>T (p.Val181Leu) n.80C>A c.937G>T (p.Val313Leu) | |
6 | g.10404581C>G | CA362701329 | TFAP2A,TFAP2A-AS2 | c.673G>C (p.Val225Leu) c.697G>C (p.Val233Leu) c.*188G>C (n.*188G>C) c.262G>C (p.Val88Leu) c.679G>C (p.Val227Leu) c.14G>C c.691G>C (p.Val231Leu) c.405G>C n.691G>C n.662G>C c.826G>C (p.Val276Leu) c.541G>C (p.Val181Leu) n.80C>G c.937G>C (p.Val313Leu) | |
6 | g.10404581C>T | CA362701330 | TFAP2A,TFAP2A-AS2 | c.673G>A (p.Val225Met) c.697G>A (p.Val233Met) c.*188G>A (n.*188G>A) c.262G>A (p.Val88Met) c.679G>A (p.Val227Met) c.14G>A c.691G>A (p.Val231Met) c.405G>A n.691G>A n.662G>A c.826G>A (p.Val276Met) c.541G>A (p.Val181Met) n.80C>T c.937G>A (p.Val313Met) | |
6 | g.10404582C>A | CA448717616 | TFAP2A,TFAP2A-AS2 | c.672G>T (p.Thr224=) c.696G>T (p.Thr232=) c.*187G>T (n.*187G>T) c.261G>T (p.Thr87=) c.678G>T (p.Thr226=) c.13G>T c.690G>T (p.Thr230=) c.404G>T n.690G>T n.661G>T c.825G>T (p.Thr275=) c.540G>T (p.Thr180=) n.81C>A c.936G>T (p.Thr312=) | gnomAD v4 |
6 | g.10404582C= | CA1609976756 | TFAP2A,TFAP2A-AS2 | c.672G= (p.Thr224=) c.696G= (p.Thr232=) c.*187G= (n.*187G=) c.261G= (p.Thr87=) c.678G= (p.Thr226=) c.13G= c.690G= (p.Thr230=) c.404G= n.690G= n.661G= c.825G= (p.Thr275=) c.540G= (p.Thr180=) n.81C= c.936G= (p.Thr312=) | |
6 | g.10404582C>G | CA448717618 | TFAP2A,TFAP2A-AS2 | c.672G>C (p.Thr224=) c.696G>C (p.Thr232=) c.*187G>C (n.*187G>C) c.261G>C (p.Thr87=) c.678G>C (p.Thr226=) c.13G>C c.690G>C (p.Thr230=) c.404G>C n.690G>C n.661G>C c.825G>C (p.Thr275=) c.540G>C (p.Thr180=) n.81C>G c.936G>C (p.Thr312=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404582C>T | CA448717617 | TFAP2A,TFAP2A-AS2 | c.672G>A (p.Thr224=) c.696G>A (p.Thr232=) c.*187G>A (n.*187G>A) c.261G>A (p.Thr87=) c.678G>A (p.Thr226=) c.13G>A c.690G>A (p.Thr230=) c.404G>A n.690G>A n.661G>A c.825G>A (p.Thr275=) c.540G>A (p.Thr180=) n.81C>T c.936G>A (p.Thr312=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404583G>A | CA362701336 | TFAP2A,TFAP2A-AS2 | c.671C>T (p.Thr224Met) c.695C>T (p.Thr232Met) c.*186C>T (n.*186C>T) c.260C>T (p.Thr87Met) c.677C>T (p.Thr226Met) c.12C>T c.689C>T (p.Thr230Met) c.403C>T n.689C>T n.660C>T c.824C>T (p.Thr275Met) c.539C>T (p.Thr180Met) n.82G>A c.935C>T (p.Thr312Met) | dbSNP |
6 | g.10404583G>C | CA362701332 | TFAP2A,TFAP2A-AS2 | c.671C>G (p.Thr224Arg) c.695C>G (p.Thr232Arg) c.*186C>G (n.*186C>G) c.260C>G (p.Thr87Arg) c.677C>G (p.Thr226Arg) c.12C>G c.689C>G (p.Thr230Arg) c.403C>G n.689C>G n.660C>G c.824C>G (p.Thr275Arg) c.539C>G (p.Thr180Arg) n.82G>C c.935C>G (p.Thr312Arg) | |
6 | g.10404583G= | CA1609976757 | TFAP2A,TFAP2A-AS2 | c.671C= (p.Thr224=) c.695C= (p.Thr232=) c.*186C= (n.*186C=) c.260C= (p.Thr87=) c.677C= (p.Thr226=) c.12C= c.689C= (p.Thr230=) c.403C= n.689C= n.660C= c.824C= (p.Thr275=) c.539C= (p.Thr180=) n.82G= c.935C= (p.Thr312=) | |
6 | g.10404583G>T | CA362701334 | TFAP2A,TFAP2A-AS2 | c.671C>A (p.Thr224Lys) c.695C>A (p.Thr232Lys) c.*186C>A (n.*186C>A) c.260C>A (p.Thr87Lys) c.677C>A (p.Thr226Lys) c.12C>A c.689C>A (p.Thr230Lys) c.403C>A n.689C>A n.660C>A c.824C>A (p.Thr275Lys) c.539C>A (p.Thr180Lys) n.82G>T c.935C>A (p.Thr312Lys) | |
6 | g.10404584T>A | CA362701338 | TFAP2A,TFAP2A-AS2 | c.670A>T (p.Thr224Ser) c.694A>T (p.Thr232Ser) c.*185A>T (n.*185A>T) c.259A>T (p.Thr87Ser) c.676A>T (p.Thr226Ser) c.11A>T c.688A>T (p.Thr230Ser) c.402A>T n.688A>T n.659A>T c.823A>T (p.Thr275Ser) c.538A>T (p.Thr180Ser) n.83T>A c.934A>T (p.Thr312Ser) | gnomAD v4 |
6 | g.10404584T>C | CA362701340 | TFAP2A,TFAP2A-AS2 | c.670A>G (p.Thr224Ala) c.694A>G (p.Thr232Ala) c.*185A>G (n.*185A>G) c.259A>G (p.Thr87Ala) c.676A>G (p.Thr226Ala) c.11A>G c.688A>G (p.Thr230Ala) c.402A>G n.688A>G n.659A>G c.823A>G (p.Thr275Ala) c.538A>G (p.Thr180Ala) n.83T>C c.934A>G (p.Thr312Ala) | gnomAD v4 |
6 | g.10404584T>G | CA362701342 | TFAP2A,TFAP2A-AS2 | c.670A>C (p.Thr224Pro) c.694A>C (p.Thr232Pro) c.*185A>C (n.*185A>C) c.259A>C (p.Thr87Pro) c.676A>C (p.Thr226Pro) c.11A>C c.688A>C (p.Thr230Pro) c.402A>C n.688A>C n.659A>C c.823A>C (p.Thr275Pro) c.538A>C (p.Thr180Pro) n.83T>G c.934A>C (p.Thr312Pro) | |
6 | g.10404585G>A | CA448717620 | TFAP2A,TFAP2A-AS2 | c.669C>T (p.Val223=) c.693C>T (p.Val231=) c.*184C>T (n.*184C>T) c.258C>T (p.Val86=) c.675C>T (p.Val225=) c.10C>T c.687C>T (p.Val229=) c.401C>T n.687C>T n.658C>T c.822C>T (p.Val274=) c.537C>T (p.Val179=) n.84G>A c.933C>T (p.Val311=) | |
6 | g.10404585G>C | CA3631269 | TFAP2A,TFAP2A-AS2 | c.669C>G (p.Val223=) c.693C>G (p.Val231=) c.*184C>G (n.*184C>G) c.258C>G (p.Val86=) c.675C>G (p.Val225=) c.10C>G c.687C>G (p.Val229=) c.401C>G n.687C>G n.658C>G c.822C>G (p.Val274=) c.537C>G (p.Val179=) n.84G>C c.933C>G (p.Val311=) | dbSNP ExAC gnomAD v4 |
6 | g.10404585G= | CA1609976758 | TFAP2A,TFAP2A-AS2 | c.669C= (p.Val223=) c.693C= (p.Val231=) c.*184C= (n.*184C=) c.258C= (p.Val86=) c.675C= (p.Val225=) c.10C= c.687C= (p.Val229=) c.401C= n.687C= n.658C= c.822C= (p.Val274=) c.537C= (p.Val179=) n.84G= c.933C= (p.Val311=) | |
6 | g.10404585G>T | CA448717621 | TFAP2A,TFAP2A-AS2 | c.669C>A (p.Val223=) c.693C>A (p.Val231=) c.*184C>A (n.*184C>A) c.258C>A (p.Val86=) c.675C>A (p.Val225=) c.10C>A c.687C>A (p.Val229=) c.401C>A n.687C>A n.658C>A c.822C>A (p.Val274=) c.537C>A (p.Val179=) n.84G>T c.933C>A (p.Val311=) | |
6 | g.10404586A>C | CA362701345 | TFAP2A,TFAP2A-AS2 | c.668T>G (p.Val223Gly) c.692T>G (p.Val231Gly) c.*183T>G (n.*183T>G) c.257T>G (p.Val86Gly) c.674T>G (p.Val225Gly) c.9T>G c.686T>G (p.Val229Gly) c.400T>G n.686T>G n.657T>G c.821T>G (p.Val274Gly) c.536T>G (p.Val179Gly) n.85A>C c.932T>G (p.Val311Gly) | |
6 | g.10404586A>G | CA362701346 | TFAP2A,TFAP2A-AS2 | c.668T>C (p.Val223Ala) c.692T>C (p.Val231Ala) c.*183T>C (n.*183T>C) c.257T>C (p.Val86Ala) c.674T>C (p.Val225Ala) c.9T>C c.686T>C (p.Val229Ala) c.400T>C n.686T>C n.657T>C c.821T>C (p.Val274Ala) c.536T>C (p.Val179Ala) n.85A>G c.932T>C (p.Val311Ala) | |
6 | g.10404586A>T | CA362701348 | TFAP2A,TFAP2A-AS2 | c.668T>A (p.Val223Asp) c.692T>A (p.Val231Asp) c.*183T>A (n.*183T>A) c.257T>A (p.Val86Asp) c.674T>A (p.Val225Asp) c.9T>A c.686T>A (p.Val229Asp) c.400T>A n.686T>A n.657T>A c.821T>A (p.Val274Asp) c.536T>A (p.Val179Asp) n.85A>T c.932T>A (p.Val311Asp) | |
6 | g.10404587C>A | CA362701350 | TFAP2A,TFAP2A-AS2 | c.667G>T (p.Val223Phe) c.691G>T (p.Val231Phe) c.*182G>T (n.*182G>T) c.256G>T (p.Val86Phe) c.673G>T (p.Val225Phe) c.8G>T c.685G>T (p.Val229Phe) c.399G>T n.685G>T n.656G>T c.820G>T (p.Val274Phe) c.535G>T (p.Val179Phe) n.86C>A c.931G>T (p.Val311Phe) | |
6 | g.10404587C= | CA1609976759 | TFAP2A,TFAP2A-AS2 | c.667G= (p.Val223=) c.691G= (p.Val231=) c.*182G= (n.*182G=) c.256G= (p.Val86=) c.673G= (p.Val225=) c.8G= c.685G= (p.Val229=) c.399G= n.685G= n.656G= c.820G= (p.Val274=) c.535G= (p.Val179=) n.86C= c.931G= (p.Val311=) | |
6 | g.10404587C>G | CA362701352 | TFAP2A,TFAP2A-AS2 | c.667G>C (p.Val223Leu) c.691G>C (p.Val231Leu) c.*182G>C (n.*182G>C) c.256G>C (p.Val86Leu) c.673G>C (p.Val225Leu) c.8G>C c.685G>C (p.Val229Leu) c.399G>C n.685G>C n.656G>C c.820G>C (p.Val274Leu) c.535G>C (p.Val179Leu) n.86C>G c.931G>C (p.Val311Leu) | |
6 | g.10404587C>T | CA3631270 | TFAP2A,TFAP2A-AS2 | c.667G>A (p.Val223Ile) c.691G>A (p.Val231Ile) c.*182G>A (n.*182G>A) c.256G>A (p.Val86Ile) c.673G>A (p.Val225Ile) c.8G>A c.685G>A (p.Val229Ile) c.399G>A n.685G>A n.656G>A c.820G>A (p.Val274Ile) c.535G>A (p.Val179Ile) n.86C>T c.931G>A (p.Val311Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404588C>A | CA362701355 | TFAP2A,TFAP2A-AS2 | c.666G>T (p.Lys222Asn) c.690G>T (p.Lys230Asn) c.*181G>T (n.*181G>T) c.255G>T (p.Lys85Asn) c.672G>T (p.Lys224Asn) c.7G>T c.684G>T (p.Lys228Asn) c.398G>T n.684G>T n.655G>T c.819G>T (p.Lys273Asn) c.534G>T (p.Lys178Asn) n.87C>A c.930G>T (p.Lys310Asn) | |
6 | g.10404588C= | CA1609976760 | TFAP2A,TFAP2A-AS2 | c.666G= (p.Lys222=) c.690G= (p.Lys230=) c.*181G= (n.*181G=) c.255G= (p.Lys85=) c.672G= (p.Lys224=) c.7G= c.684G= (p.Lys228=) c.398G= n.684G= n.655G= c.819G= (p.Lys273=) c.534G= (p.Lys178=) n.87C= c.930G= (p.Lys310=) | |
6 | g.10404588C>G | CA362701357 | TFAP2A,TFAP2A-AS2 | c.666G>C (p.Lys222Asn) c.690G>C (p.Lys230Asn) c.*181G>C (n.*181G>C) c.255G>C (p.Lys85Asn) c.672G>C (p.Lys224Asn) c.7G>C c.684G>C (p.Lys228Asn) c.398G>C n.684G>C n.655G>C c.819G>C (p.Lys273Asn) c.534G>C (p.Lys178Asn) n.87C>G c.930G>C (p.Lys310Asn) | dbSNP |
6 | g.10404588C>T | CA448717622 | TFAP2A,TFAP2A-AS2 | c.666G>A (p.Lys222=) c.690G>A (p.Lys230=) c.*181G>A (n.*181G>A) c.255G>A (p.Lys85=) c.672G>A (p.Lys224=) c.7G>A c.684G>A (p.Lys228=) c.398G>A n.684G>A n.655G>A c.819G>A (p.Lys273=) c.534G>A (p.Lys178=) n.87C>T c.930G>A (p.Lys310=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404589T>A | CA362701361 | TFAP2A,TFAP2A-AS2 | c.665A>T (p.Lys222Met) c.689A>T (p.Lys230Met) c.*180A>T (n.*180A>T) c.254A>T (p.Lys85Met) c.671A>T (p.Lys224Met) c.6A>T c.683A>T (p.Lys228Met) c.397A>T n.683A>T n.654A>T c.818A>T (p.Lys273Met) c.533A>T (p.Lys178Met) n.88T>A c.929A>T (p.Lys310Met) | |
6 | g.10404589T>C | CA362701362 | TFAP2A,TFAP2A-AS2 | c.665A>G (p.Lys222Arg) c.689A>G (p.Lys230Arg) c.*180A>G (n.*180A>G) c.254A>G (p.Lys85Arg) c.671A>G (p.Lys224Arg) c.6A>G c.683A>G (p.Lys228Arg) c.397A>G n.683A>G n.654A>G c.818A>G (p.Lys273Arg) c.533A>G (p.Lys178Arg) n.88T>C c.929A>G (p.Lys310Arg) | ClinVar gnomAD v4 |
6 | g.10404589T>G | CA362701359 | TFAP2A,TFAP2A-AS2 | c.665A>C (p.Lys222Thr) c.689A>C (p.Lys230Thr) c.*180A>C (n.*180A>C) c.254A>C (p.Lys85Thr) c.671A>C (p.Lys224Thr) c.6A>C c.683A>C (p.Lys228Thr) c.397A>C n.683A>C n.654A>C c.818A>C (p.Lys273Thr) c.533A>C (p.Lys178Thr) n.88T>G c.929A>C (p.Lys310Thr) | gnomAD v4 |
6 | g.10404590T>A | CA362701364 | TFAP2A,TFAP2A-AS2 | c.664A>T (p.Lys222Ter) c.688A>T (p.Lys230Ter) c.*179A>T (n.*179A>T) c.253A>T (p.Lys85Ter) c.670A>T (p.Lys224Ter) c.5A>T c.682A>T (p.Lys228Ter) c.396A>T n.682A>T n.653A>T c.817A>T (p.Lys273Ter) c.532A>T (p.Lys178Ter) n.89T>A c.928A>T (p.Lys310Ter) | |
6 | g.10404590T>C | CA362701368 | TFAP2A,TFAP2A-AS2 | c.664A>G (p.Lys222Glu) c.688A>G (p.Lys230Glu) c.*179A>G (n.*179A>G) c.253A>G (p.Lys85Glu) c.670A>G (p.Lys224Glu) c.5A>G c.682A>G (p.Lys228Glu) c.396A>G n.682A>G n.653A>G c.817A>G (p.Lys273Glu) c.532A>G (p.Lys178Glu) n.89T>C c.928A>G (p.Lys310Glu) | |
6 | g.10404590T>G | CA362701366 | TFAP2A,TFAP2A-AS2 | c.664A>C (p.Lys222Gln) c.688A>C (p.Lys230Gln) c.*179A>C (n.*179A>C) c.253A>C (p.Lys85Gln) c.670A>C (p.Lys224Gln) c.5A>C c.682A>C (p.Lys228Gln) c.396A>C n.682A>C n.653A>C c.817A>C (p.Lys273Gln) c.532A>C (p.Lys178Gln) n.89T>G c.928A>C (p.Lys310Gln) | |
6 | g.10404591G>A | CA448717623 | TFAP2A,TFAP2A-AS2 | c.663C>T (p.Tyr221=) c.687C>T (p.Tyr229=) c.*178C>T (n.*178C>T) c.252C>T (p.Tyr84=) c.669C>T (p.Tyr223=) c.4C>T c.681C>T (p.Tyr227=) c.395C>T n.681C>T n.652C>T c.816C>T (p.Tyr272=) c.531C>T (p.Tyr177=) n.90G>A c.927C>T (p.Tyr309=) | |
6 | g.10404591G>C | CA362701370 | TFAP2A,TFAP2A-AS2 | c.663C>G (p.Tyr221Ter) c.687C>G (p.Tyr229Ter) c.*178C>G (n.*178C>G) c.252C>G (p.Tyr84Ter) c.669C>G (p.Tyr223Ter) c.4C>G c.681C>G (p.Tyr227Ter) c.395C>G n.681C>G n.652C>G c.816C>G (p.Tyr272Ter) c.531C>G (p.Tyr177Ter) n.90G>C c.927C>G (p.Tyr309Ter) | ClinVar dbSNP |
6 | g.10404591G>T | CA362701372 | TFAP2A,TFAP2A-AS2 | c.663C>A (p.Tyr221Ter) c.687C>A (p.Tyr229Ter) c.*178C>A (n.*178C>A) c.252C>A (p.Tyr84Ter) c.669C>A (p.Tyr223Ter) c.4C>A c.681C>A (p.Tyr227Ter) c.395C>A n.681C>A n.652C>A c.816C>A (p.Tyr272Ter) c.531C>A (p.Tyr177Ter) n.90G>T c.927C>A (p.Tyr309Ter) | |
6 | g.10404592T>A | CA362701374 | TFAP2A,TFAP2A-AS2 | c.662A>T (p.Tyr221Phe) c.686A>T (p.Tyr229Phe) c.*177A>T (n.*177A>T) c.251A>T (p.Tyr84Phe) c.668A>T (p.Tyr223Phe) c.3A>T c.680A>T (p.Tyr227Phe) c.394A>T n.680A>T n.651A>T c.815A>T (p.Tyr272Phe) c.530A>T (p.Tyr177Phe) n.91T>A c.926A>T (p.Tyr309Phe) | |
6 | g.10404592T>C | CA362701376 | TFAP2A,TFAP2A-AS2 | c.662A>G (p.Tyr221Cys) c.686A>G (p.Tyr229Cys) c.*177A>G (n.*177A>G) c.251A>G (p.Tyr84Cys) c.668A>G (p.Tyr223Cys) c.3A>G c.680A>G (p.Tyr227Cys) c.394A>G n.680A>G n.651A>G c.815A>G (p.Tyr272Cys) c.530A>G (p.Tyr177Cys) n.91T>C c.926A>G (p.Tyr309Cys) | |
6 | g.10404592T>G | CA362701377 | TFAP2A,TFAP2A-AS2 | c.662A>C (p.Tyr221Ser) c.686A>C (p.Tyr229Ser) c.*177A>C (n.*177A>C) c.251A>C (p.Tyr84Ser) c.668A>C (p.Tyr223Ser) c.3A>C c.680A>C (p.Tyr227Ser) c.394A>C n.680A>C n.651A>C c.815A>C (p.Tyr272Ser) c.530A>C (p.Tyr177Ser) n.91T>G c.926A>C (p.Tyr309Ser) | |
6 | g.10404593A>C | CA362701379 | TFAP2A,TFAP2A-AS2 | c.661T>G (p.Tyr221Asp) c.685T>G (p.Tyr229Asp) c.*176T>G (n.*176T>G) c.250T>G (p.Tyr84Asp) c.667T>G (p.Tyr223Asp) c.2T>G c.679T>G (p.Tyr227Asp) c.393T>G n.679T>G n.650T>G c.814T>G (p.Tyr272Asp) c.529T>G (p.Tyr177Asp) n.92A>C c.925T>G (p.Tyr309Asp) | |
6 | g.10404593A>G | CA362701381 | TFAP2A,TFAP2A-AS2 | c.661T>C (p.Tyr221His) c.685T>C (p.Tyr229His) c.*176T>C (n.*176T>C) c.250T>C (p.Tyr84His) c.667T>C (p.Tyr223His) c.2T>C c.679T>C (p.Tyr227His) c.393T>C n.679T>C n.650T>C c.814T>C (p.Tyr272His) c.529T>C (p.Tyr177His) n.92A>G c.925T>C (p.Tyr309His) | |
6 | g.10404593A>T | CA362701383 | TFAP2A,TFAP2A-AS2 | c.661T>A (p.Tyr221Asn) c.685T>A (p.Tyr229Asn) c.*176T>A (n.*176T>A) c.250T>A (p.Tyr84Asn) c.667T>A (p.Tyr223Asn) c.2T>A c.679T>A (p.Tyr227Asn) c.393T>A n.679T>A n.650T>A c.814T>A (p.Tyr272Asn) c.529T>A (p.Tyr177Asn) n.92A>T c.925T>A (p.Tyr309Asn) | |
6 | g.10404594C>A | CA362701385 | TFAP2A,TFAP2A-AS2 | c.660G>T (p.Lys220Asn) c.684G>T (p.Lys228Asn) c.*175G>T (n.*175G>T) c.249G>T (p.Lys83Asn) c.666G>T (p.Lys222Asn) c.1G>T c.678G>T (p.Lys226Asn) c.392G>T n.678G>T n.649G>T c.813G>T (p.Lys271Asn) c.528G>T (p.Lys176Asn) n.93C>A c.924G>T (p.Lys308Asn) | |
6 | g.10404594C= | CA1609976761 | TFAP2A,TFAP2A-AS2 | c.660G= (p.Lys220=) c.684G= (p.Lys228=) c.*175G= (n.*175G=) c.249G= (p.Lys83=) c.666G= (p.Lys222=) c.1G= c.678G= (p.Lys226=) c.392G= n.678G= n.649G= c.813G= (p.Lys271=) c.528G= (p.Lys176=) n.93C= c.924G= (p.Lys308=) | |
6 | g.10404594C>G | CA362701387 | TFAP2A,TFAP2A-AS2 | c.660G>C (p.Lys220Asn) c.684G>C (p.Lys228Asn) c.*175G>C (n.*175G>C) c.249G>C (p.Lys83Asn) c.666G>C (p.Lys222Asn) c.1G>C c.678G>C (p.Lys226Asn) c.392G>C n.678G>C n.649G>C c.813G>C (p.Lys271Asn) c.528G>C (p.Lys176Asn) n.93C>G c.924G>C (p.Lys308Asn) | |
6 | g.10404594C>T | CA134049110 | TFAP2A,TFAP2A-AS2 | c.660G>A (p.Lys220=) c.684G>A (p.Lys228=) c.*175G>A (n.*175G>A) c.249G>A (p.Lys83=) c.666G>A (p.Lys222=) c.1G>A c.678G>A (p.Lys226=) c.392G>A n.678G>A n.649G>A c.813G>A (p.Lys271=) c.528G>A (p.Lys176=) n.93C>T c.924G>A (p.Lys308=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404595T>A | CA362701389 | TFAP2A,TFAP2A-AS2 | c.659A>T (p.Lys220Met) c.683A>T (p.Lys228Met) c.*174A>T (n.*174A>T) c.248A>T (p.Lys83Met) c.665A>T (p.Lys222Met) c.677A>T (p.Lys226Met) c.391A>T n.677A>T n.648A>T c.812A>T (p.Lys271Met) c.527A>T (p.Lys176Met) n.94T>A c.923A>T (p.Lys308Met) | |
6 | g.10404595T>C | CA362701391 | TFAP2A,TFAP2A-AS2 | c.659A>G (p.Lys220Arg) c.683A>G (p.Lys228Arg) c.*174A>G (n.*174A>G) c.248A>G (p.Lys83Arg) c.665A>G (p.Lys222Arg) c.677A>G (p.Lys226Arg) c.391A>G n.677A>G n.648A>G c.812A>G (p.Lys271Arg) c.527A>G (p.Lys176Arg) n.94T>C c.923A>G (p.Lys308Arg) | |
6 | g.10404595T>G | CA362701392 | TFAP2A,TFAP2A-AS2 | c.659A>C (p.Lys220Thr) c.683A>C (p.Lys228Thr) c.*174A>C (n.*174A>C) c.248A>C (p.Lys83Thr) c.665A>C (p.Lys222Thr) c.677A>C (p.Lys226Thr) c.391A>C n.677A>C n.648A>C c.812A>C (p.Lys271Thr) c.527A>C (p.Lys176Thr) n.94T>G c.923A>C (p.Lys308Thr) | |
6 | g.10404596T>A | CA362701394 | TFAP2A,TFAP2A-AS2 | c.658A>T (p.Lys220Ter) c.682A>T (p.Lys228Ter) c.*173A>T (n.*173A>T) c.247A>T (p.Lys83Ter) c.664A>T (p.Lys222Ter) c.676A>T (p.Lys226Ter) c.390A>T n.676A>T n.647A>T c.811A>T (p.Lys271Ter) c.526A>T (p.Lys176Ter) n.95T>A c.922A>T (p.Lys308Ter) | |
6 | g.10404596T>C | CA362701398 | TFAP2A,TFAP2A-AS2 | c.658A>G (p.Lys220Glu) c.682A>G (p.Lys228Glu) c.*173A>G (n.*173A>G) c.247A>G (p.Lys83Glu) c.664A>G (p.Lys222Glu) c.676A>G (p.Lys226Glu) c.390A>G n.676A>G n.647A>G c.811A>G (p.Lys271Glu) c.526A>G (p.Lys176Glu) n.95T>C c.922A>G (p.Lys308Glu) | |
6 | g.10404596T>G | CA362701396 | TFAP2A,TFAP2A-AS2 | c.658A>C (p.Lys220Gln) c.682A>C (p.Lys228Gln) c.*173A>C (n.*173A>C) c.247A>C (p.Lys83Gln) c.664A>C (p.Lys222Gln) c.676A>C (p.Lys226Gln) c.390A>C n.676A>C n.647A>C c.811A>C (p.Lys271Gln) c.526A>C (p.Lys176Gln) n.95T>G c.922A>C (p.Lys308Gln) | |
6 | g.10404597C>A | CA448717626 | TFAP2A,TFAP2A-AS2 | c.657G>T (p.Ser219=) c.681G>T (p.Ser227=) c.*172G>T (n.*172G>T) c.246G>T (p.Ser82=) c.663G>T (p.Ser221=) c.675G>T (p.Ser225=) c.389G>T n.675G>T n.646G>T c.810G>T (p.Ser270=) c.525G>T (p.Ser175=) n.96C>A c.921G>T (p.Ser307=) | |
6 | g.10404597C= | CA1609976762 | TFAP2A,TFAP2A-AS2 | c.657G= (p.Ser219=) c.681G= (p.Ser227=) c.*172G= (n.*172G=) c.246G= (p.Ser82=) c.663G= (p.Ser221=) c.675G= (p.Ser225=) c.389G= n.675G= n.646G= c.810G= (p.Ser270=) c.525G= (p.Ser175=) n.96C= c.921G= (p.Ser307=) | |
6 | g.10404597C>G | CA448717628 | TFAP2A,TFAP2A-AS2 | c.657G>C (p.Ser219=) c.681G>C (p.Ser227=) c.*172G>C (n.*172G>C) c.246G>C (p.Ser82=) c.663G>C (p.Ser221=) c.675G>C (p.Ser225=) c.389G>C n.675G>C n.646G>C c.810G>C (p.Ser270=) c.525G>C (p.Ser175=) n.96C>G c.921G>C (p.Ser307=) | |
6 | g.10404597C>T | CA3631271 | TFAP2A,TFAP2A-AS2 | c.657G>A (p.Ser219=) c.681G>A (p.Ser227=) c.*172G>A (n.*172G>A) c.246G>A (p.Ser82=) c.663G>A (p.Ser221=) c.675G>A (p.Ser225=) c.389G>A n.675G>A n.646G>A c.810G>A (p.Ser270=) c.525G>A (p.Ser175=) n.96C>T c.921G>A (p.Ser307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404598G>A | CA362701401 | TFAP2A,TFAP2A-AS2 | c.656C>T (p.Ser219Leu) c.680C>T (p.Ser227Leu) c.*171C>T (n.*171C>T) c.245C>T (p.Ser82Leu) c.662C>T (p.Ser221Leu) c.674C>T (p.Ser225Leu) c.388C>T n.674C>T n.645C>T c.809C>T (p.Ser270Leu) c.524C>T (p.Ser175Leu) n.97G>A c.920C>T (p.Ser307Leu) | |
6 | g.10404598G>C | CA362701403 | TFAP2A,TFAP2A-AS2 | c.656C>G (p.Ser219Trp) c.680C>G (p.Ser227Trp) c.*171C>G (n.*171C>G) c.245C>G (p.Ser82Trp) c.662C>G (p.Ser221Trp) c.674C>G (p.Ser225Trp) c.388C>G n.674C>G n.645C>G c.809C>G (p.Ser270Trp) c.524C>G (p.Ser175Trp) n.97G>C c.920C>G (p.Ser307Trp) | |
6 | g.10404598G>T | CA362701404 | TFAP2A,TFAP2A-AS2 | c.656C>A (p.Ser219Ter) c.680C>A (p.Ser227Ter) c.*171C>A (n.*171C>A) c.245C>A (p.Ser82Ter) c.662C>A (p.Ser221Ter) c.674C>A (p.Ser225Ter) c.388C>A n.674C>A n.645C>A c.809C>A (p.Ser270Ter) c.524C>A (p.Ser175Ter) n.97G>T c.920C>A (p.Ser307Ter) | ClinVar |
6 | g.10404599A= | CA1609976763 | TFAP2A,TFAP2A-AS2 | c.655T= (p.Ser219=) c.679T= (p.Ser227=) c.*170T= (n.*170T=) c.244T= (p.Ser82=) c.661T= (p.Ser221=) c.673T= (p.Ser225=) c.387T= n.673T= n.644T= c.808T= (p.Ser270=) c.523T= (p.Ser175=) n.98A= c.919T= (p.Ser307=) | |
6 | g.10404599A>C | CA362701407 | TFAP2A,TFAP2A-AS2 | c.655T>G (p.Ser219Ala) c.679T>G (p.Ser227Ala) c.*170T>G (n.*170T>G) c.244T>G (p.Ser82Ala) c.661T>G (p.Ser221Ala) c.673T>G (p.Ser225Ala) c.387T>G n.673T>G n.644T>G c.808T>G (p.Ser270Ala) c.523T>G (p.Ser175Ala) n.98A>C c.919T>G (p.Ser307Ala) | |
6 | g.10404599A>G | CA3631272 | TFAP2A,TFAP2A-AS2 | c.655T>C (p.Ser219Pro) c.679T>C (p.Ser227Pro) c.*170T>C (n.*170T>C) c.244T>C (p.Ser82Pro) c.661T>C (p.Ser221Pro) c.673T>C (p.Ser225Pro) c.387T>C n.673T>C n.644T>C c.808T>C (p.Ser270Pro) c.523T>C (p.Ser175Pro) n.98A>G c.919T>C (p.Ser307Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.10404599A>T | CA362701409 | TFAP2A,TFAP2A-AS2 | c.655T>A (p.Ser219Thr) c.679T>A (p.Ser227Thr) c.*170T>A (n.*170T>A) c.244T>A (p.Ser82Thr) c.661T>A (p.Ser221Thr) c.673T>A (p.Ser225Thr) c.387T>A n.673T>A n.644T>A c.808T>A (p.Ser270Thr) c.523T>A (p.Ser175Thr) n.98A>T c.919T>A (p.Ser307Thr) | |
6 | g.10404600G>A | CA448717630 | TFAP2A,TFAP2A-AS2 | c.654C>T (p.Thr218=) c.678C>T (p.Thr226=) c.*169C>T (n.*169C>T) c.243C>T (p.Thr81=) c.660C>T (p.Thr220=) c.672C>T (p.Thr224=) c.386C>T n.672C>T n.643C>T c.807C>T (p.Thr269=) c.522C>T (p.Thr174=) n.99G>A c.918C>T (p.Thr306=) | |
6 | g.10404600G>C | CA448717631 | TFAP2A,TFAP2A-AS2 | c.654C>G (p.Thr218=) c.678C>G (p.Thr226=) c.*169C>G (n.*169C>G) c.243C>G (p.Thr81=) c.660C>G (p.Thr220=) c.672C>G (p.Thr224=) c.386C>G n.672C>G n.643C>G c.807C>G (p.Thr269=) c.522C>G (p.Thr174=) n.99G>C c.918C>G (p.Thr306=) | ClinVar gnomAD v4 |
6 | g.10404600G>T | CA448717632 | TFAP2A,TFAP2A-AS2 | c.654C>A (p.Thr218=) c.678C>A (p.Thr226=) c.*169C>A (n.*169C>A) c.243C>A (p.Thr81=) c.660C>A (p.Thr220=) c.672C>A (p.Thr224=) c.386C>A n.672C>A n.643C>A c.807C>A (p.Thr269=) c.522C>A (p.Thr174=) n.99G>T c.918C>A (p.Thr306=) | |
6 | g.10404601G>A | CA362701411 | TFAP2A,TFAP2A-AS2 | c.653C>T (p.Thr218Ile) c.677C>T (p.Thr226Ile) c.*168C>T (n.*168C>T) c.242C>T (p.Thr81Ile) c.659C>T (p.Thr220Ile) c.671C>T (p.Thr224Ile) c.385C>T n.671C>T n.642C>T c.806C>T (p.Thr269Ile) c.521C>T (p.Thr174Ile) n.100G>A c.917C>T (p.Thr306Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404601G>C | CA362701413 | TFAP2A,TFAP2A-AS2 | c.653C>G (p.Thr218Ser) c.677C>G (p.Thr226Ser) c.*168C>G (n.*168C>G) c.242C>G (p.Thr81Ser) c.659C>G (p.Thr220Ser) c.671C>G (p.Thr224Ser) c.385C>G n.671C>G n.642C>G c.806C>G (p.Thr269Ser) c.521C>G (p.Thr174Ser) n.100G>C c.917C>G (p.Thr306Ser) | |
6 | g.10404601G= | CA1609976764 | TFAP2A,TFAP2A-AS2 | c.653C= (p.Thr218=) c.677C= (p.Thr226=) c.*168C= (n.*168C=) c.242C= (p.Thr81=) c.659C= (p.Thr220=) c.671C= (p.Thr224=) c.385C= n.671C= n.642C= c.806C= (p.Thr269=) c.521C= (p.Thr174=) n.100G= c.917C= (p.Thr306=) | |
6 | g.10404601G>T | CA362701415 | TFAP2A,TFAP2A-AS2 | c.653C>A (p.Thr218Asn) c.677C>A (p.Thr226Asn) c.*168C>A (n.*168C>A) c.242C>A (p.Thr81Asn) c.659C>A (p.Thr220Asn) c.671C>A (p.Thr224Asn) c.385C>A n.671C>A n.642C>A c.806C>A (p.Thr269Asn) c.521C>A (p.Thr174Asn) n.100G>T c.917C>A (p.Thr306Asn) | |
6 | g.10404602T>A | CA362701420 | TFAP2A,TFAP2A-AS2 | c.652A>T (p.Thr218Ser) c.676A>T (p.Thr226Ser) c.*167A>T (n.*167A>T) c.241A>T (p.Thr81Ser) c.658A>T (p.Thr220Ser) c.670A>T (p.Thr224Ser) c.384A>T n.670A>T n.641A>T c.805A>T (p.Thr269Ser) c.520A>T (p.Thr174Ser) n.101T>A c.916A>T (p.Thr306Ser) | |
6 | g.10404602T>C | CA362701418 | TFAP2A,TFAP2A-AS2 | c.652A>G (p.Thr218Ala) c.676A>G (p.Thr226Ala) c.*167A>G (n.*167A>G) c.241A>G (p.Thr81Ala) c.658A>G (p.Thr220Ala) c.670A>G (p.Thr224Ala) c.384A>G n.670A>G n.641A>G c.805A>G (p.Thr269Ala) c.520A>G (p.Thr174Ala) n.101T>C c.916A>G (p.Thr306Ala) | gnomAD v4 |
6 | g.10404602T>G | CA362701417 | TFAP2A,TFAP2A-AS2 | c.652A>C (p.Thr218Pro) c.676A>C (p.Thr226Pro) c.*167A>C (n.*167A>C) c.241A>C (p.Thr81Pro) c.658A>C (p.Thr220Pro) c.670A>C (p.Thr224Pro) c.384A>C n.670A>C n.641A>C c.805A>C (p.Thr269Pro) c.520A>C (p.Thr174Pro) n.101T>G c.916A>C (p.Thr306Pro) | |
6 | g.10404603G>A | CA448717637 | TFAP2A,TFAP2A-AS2 | c.651C>T (p.Ser217=) c.675C>T (p.Ser225=) c.*166C>T (n.*166C>T) c.240C>T (p.Ser80=) c.657C>T (p.Ser219=) c.669C>T (p.Ser223=) c.383C>T n.669C>T n.640C>T c.804C>T (p.Ser268=) c.519C>T (p.Ser173=) n.102G>A c.915C>T (p.Ser305=) | dbSNP gnomAD v4 |
6 | g.10404603G>C | CA448717638 | TFAP2A,TFAP2A-AS2 | c.651C>G (p.Ser217=) c.675C>G (p.Ser225=) c.*166C>G (n.*166C>G) c.240C>G (p.Ser80=) c.657C>G (p.Ser219=) c.669C>G (p.Ser223=) c.383C>G n.669C>G n.640C>G c.804C>G (p.Ser268=) c.519C>G (p.Ser173=) n.102G>C c.915C>G (p.Ser305=) | |
6 | g.10404603G= | CA1609976765 | TFAP2A,TFAP2A-AS2 | c.651C= (p.Ser217=) c.675C= (p.Ser225=) c.*166C= (n.*166C=) c.240C= (p.Ser80=) c.657C= (p.Ser219=) c.669C= (p.Ser223=) c.383C= n.669C= n.640C= c.804C= (p.Ser268=) c.519C= (p.Ser173=) n.102G= c.915C= (p.Ser305=) | |
6 | g.10404603G>T | CA448717639 | TFAP2A,TFAP2A-AS2 | c.651C>A (p.Ser217=) c.675C>A (p.Ser225=) c.*166C>A (n.*166C>A) c.240C>A (p.Ser80=) c.657C>A (p.Ser219=) c.669C>A (p.Ser223=) c.383C>A n.669C>A n.640C>A c.804C>A (p.Ser268=) c.519C>A (p.Ser173=) n.102G>T c.915C>A (p.Ser305=) | |
6 | g.10404604G>A | CA362701425 | TFAP2A,TFAP2A-AS2 | c.650C>T (p.Ser217Phe) c.674C>T (p.Ser225Phe) c.*165C>T (n.*165C>T) c.239C>T (p.Ser80Phe) c.656C>T (p.Ser219Phe) c.668C>T (p.Ser223Phe) c.382C>T n.668C>T n.639C>T c.803C>T (p.Ser268Phe) c.518C>T (p.Ser173Phe) n.103G>A c.914C>T (p.Ser305Phe) | |
6 | g.10404604G>C | CA362701422 | TFAP2A,TFAP2A-AS2 | c.650C>G (p.Ser217Cys) c.674C>G (p.Ser225Cys) c.*165C>G (n.*165C>G) c.239C>G (p.Ser80Cys) c.656C>G (p.Ser219Cys) c.668C>G (p.Ser223Cys) c.382C>G n.668C>G n.639C>G c.803C>G (p.Ser268Cys) c.518C>G (p.Ser173Cys) n.103G>C c.914C>G (p.Ser305Cys) | |
6 | g.10404604G>T | CA362701424 | TFAP2A,TFAP2A-AS2 | c.650C>A (p.Ser217Tyr) c.674C>A (p.Ser225Tyr) c.*165C>A (n.*165C>A) c.239C>A (p.Ser80Tyr) c.656C>A (p.Ser219Tyr) c.668C>A (p.Ser223Tyr) c.382C>A n.668C>A n.639C>A c.803C>A (p.Ser268Tyr) c.518C>A (p.Ser173Tyr) n.103G>T c.914C>A (p.Ser305Tyr) | |
6 | g.10404605A>C | CA362701427 | TFAP2A,TFAP2A-AS2 | c.649T>G (p.Ser217Ala) c.673T>G (p.Ser225Ala) c.*164T>G (n.*164T>G) c.238T>G (p.Ser80Ala) c.655T>G (p.Ser219Ala) c.667T>G (p.Ser223Ala) c.381T>G n.667T>G n.638T>G c.802T>G (p.Ser268Ala) c.517T>G (p.Ser173Ala) n.104A>C c.913T>G (p.Ser305Ala) | gnomAD v4 |
6 | g.10404605A>G | CA362701429 | TFAP2A,TFAP2A-AS2 | c.649T>C (p.Ser217Pro) c.673T>C (p.Ser225Pro) c.*164T>C (n.*164T>C) c.238T>C (p.Ser80Pro) c.655T>C (p.Ser219Pro) c.667T>C (p.Ser223Pro) c.381T>C n.667T>C n.638T>C c.802T>C (p.Ser268Pro) c.517T>C (p.Ser173Pro) n.104A>G c.913T>C (p.Ser305Pro) | |
6 | g.10404605A>T | CA362701431 | TFAP2A,TFAP2A-AS2 | c.649T>A (p.Ser217Thr) c.673T>A (p.Ser225Thr) c.*164T>A (n.*164T>A) c.238T>A (p.Ser80Thr) c.655T>A (p.Ser219Thr) c.667T>A (p.Ser223Thr) c.381T>A n.667T>A n.638T>A c.802T>A (p.Ser268Thr) c.517T>A (p.Ser173Thr) n.104A>T c.913T>A (p.Ser305Thr) | |
6 | g.10404606G>A | CA448717643 | TFAP2A,TFAP2A-AS2 | c.648C>T (p.Ser216=) c.672C>T (p.Ser224=) c.*163C>T (n.*163C>T) c.237C>T (p.Ser79=) c.654C>T (p.Ser218=) c.666C>T (p.Ser222=) c.380C>T n.666C>T n.637C>T c.801C>T (p.Ser267=) c.516C>T (p.Ser172=) n.105G>A c.912C>T (p.Ser304=) | |
6 | g.10404606G>C | CA362701433 | TFAP2A,TFAP2A-AS2 | c.648C>G (p.Ser216Arg) c.672C>G (p.Ser224Arg) c.*163C>G (n.*163C>G) c.237C>G (p.Ser79Arg) c.654C>G (p.Ser218Arg) c.666C>G (p.Ser222Arg) c.380C>G n.666C>G n.637C>G c.801C>G (p.Ser267Arg) c.516C>G (p.Ser172Arg) n.105G>C c.912C>G (p.Ser304Arg) | |
6 | g.10404606G>T | CA362701434 | TFAP2A,TFAP2A-AS2 | c.648C>A (p.Ser216Arg) c.672C>A (p.Ser224Arg) c.*163C>A (n.*163C>A) c.237C>A (p.Ser79Arg) c.654C>A (p.Ser218Arg) c.666C>A (p.Ser222Arg) c.380C>A n.666C>A n.637C>A c.801C>A (p.Ser267Arg) c.516C>A (p.Ser172Arg) n.105G>T c.912C>A (p.Ser304Arg) | |
6 | g.10404607C>A | CA362701436 | TFAP2A,TFAP2A-AS2 | c.647G>T (p.Ser216Ile) c.671G>T (p.Ser224Ile) c.*162G>T (n.*162G>T) c.236G>T (p.Ser79Ile) c.653G>T (p.Ser218Ile) c.665G>T (p.Ser222Ile) c.379G>T n.665G>T n.636G>T c.800G>T (p.Ser267Ile) c.515G>T (p.Ser172Ile) n.106C>A c.911G>T (p.Ser304Ile) | |
6 | g.10404607C>G | CA362701438 | TFAP2A,TFAP2A-AS2 | c.647G>C (p.Ser216Thr) c.671G>C (p.Ser224Thr) c.*162G>C (n.*162G>C) c.236G>C (p.Ser79Thr) c.653G>C (p.Ser218Thr) c.665G>C (p.Ser222Thr) c.379G>C n.665G>C n.636G>C c.800G>C (p.Ser267Thr) c.515G>C (p.Ser172Thr) n.106C>G c.911G>C (p.Ser304Thr) | |
6 | g.10404607C>T | CA362701440 | TFAP2A,TFAP2A-AS2 | c.647G>A (p.Ser216Asn) c.671G>A (p.Ser224Asn) c.*162G>A (n.*162G>A) c.236G>A (p.Ser79Asn) c.653G>A (p.Ser218Asn) c.665G>A (p.Ser222Asn) c.379G>A n.665G>A n.636G>A c.800G>A (p.Ser267Asn) c.515G>A (p.Ser172Asn) n.106C>T c.911G>A (p.Ser304Asn) | |
6 | g.10404608T>A | CA362701442 | TFAP2A,TFAP2A-AS2 | c.646A>T (p.Ser216Cys) c.670A>T (p.Ser224Cys) c.*161A>T (n.*161A>T) c.235A>T (p.Ser79Cys) c.652A>T (p.Ser218Cys) c.664A>T (p.Ser222Cys) c.378A>T n.664A>T n.635A>T c.799A>T (p.Ser267Cys) c.514A>T (p.Ser172Cys) n.107T>A c.910A>T (p.Ser304Cys) | |
6 | g.10404608T>C | CA362701444 | TFAP2A,TFAP2A-AS2 | c.646A>G (p.Ser216Gly) c.670A>G (p.Ser224Gly) c.*161A>G (n.*161A>G) c.235A>G (p.Ser79Gly) c.652A>G (p.Ser218Gly) c.664A>G (p.Ser222Gly) c.378A>G n.664A>G n.635A>G c.799A>G (p.Ser267Gly) c.514A>G (p.Ser172Gly) n.107T>C c.910A>G (p.Ser304Gly) | |
6 | g.10404608T>G | CA362701446 | TFAP2A,TFAP2A-AS2 | c.646A>C (p.Ser216Arg) c.670A>C (p.Ser224Arg) c.*161A>C (n.*161A>C) c.235A>C (p.Ser79Arg) c.652A>C (p.Ser218Arg) c.664A>C (p.Ser222Arg) c.378A>C n.664A>C n.635A>C c.799A>C (p.Ser267Arg) c.514A>C (p.Ser172Arg) n.107T>G c.910A>C (p.Ser304Arg) | |
6 | g.10404609G>A | CA448717650 | TFAP2A,TFAP2A-AS2 | c.645C>T (p.Leu215=) c.669C>T (p.Leu223=) c.*160C>T (n.*160C>T) c.234C>T (p.Leu78=) c.651C>T (p.Leu217=) c.663C>T (p.Leu221=) c.377C>T n.663C>T n.634C>T c.798C>T (p.Leu266=) c.513C>T (p.Leu171=) n.108G>A c.909C>T (p.Leu303=) | COSMIC COSMIC COSMIC |
6 | g.10404609G>C | CA448717651 | TFAP2A,TFAP2A-AS2 | c.645C>G (p.Leu215=) c.669C>G (p.Leu223=) c.*160C>G (n.*160C>G) c.234C>G (p.Leu78=) c.651C>G (p.Leu217=) c.663C>G (p.Leu221=) c.377C>G n.663C>G n.634C>G c.798C>G (p.Leu266=) c.513C>G (p.Leu171=) n.108G>C c.909C>G (p.Leu303=) | |
6 | g.10404609G>T | CA448717652 | TFAP2A,TFAP2A-AS2 | c.645C>A (p.Leu215=) c.669C>A (p.Leu223=) c.*160C>A (n.*160C>A) c.234C>A (p.Leu78=) c.651C>A (p.Leu217=) c.663C>A (p.Leu221=) c.377C>A n.663C>A n.634C>A c.798C>A (p.Leu266=) c.513C>A (p.Leu171=) n.108G>T c.909C>A (p.Leu303=) | COSMIC COSMIC COSMIC |
6 | g.10404610A>C | CA362701452 | TFAP2A,TFAP2A-AS2 | c.644T>G (p.Leu215Arg) c.668T>G (p.Leu223Arg) c.*159T>G (n.*159T>G) c.233T>G (p.Leu78Arg) c.650T>G (p.Leu217Arg) c.662T>G (p.Leu221Arg) c.376T>G n.662T>G n.633T>G c.797T>G (p.Leu266Arg) c.512T>G (p.Leu171Arg) n.109A>C c.908T>G (p.Leu303Arg) | |
6 | g.10404610A>G | CA362701448 | TFAP2A,TFAP2A-AS2 | c.644T>C (p.Leu215Pro) c.668T>C (p.Leu223Pro) c.*159T>C (n.*159T>C) c.233T>C (p.Leu78Pro) c.650T>C (p.Leu217Pro) c.662T>C (p.Leu221Pro) c.376T>C n.662T>C n.633T>C c.797T>C (p.Leu266Pro) c.512T>C (p.Leu171Pro) n.109A>G c.908T>C (p.Leu303Pro) | |
6 | g.10404610A>T | CA362701450 | TFAP2A,TFAP2A-AS2 | c.644T>A (p.Leu215His) c.668T>A (p.Leu223His) c.*159T>A (n.*159T>A) c.233T>A (p.Leu78His) c.650T>A (p.Leu217His) c.662T>A (p.Leu221His) c.376T>A n.662T>A n.633T>A c.797T>A (p.Leu266His) c.512T>A (p.Leu171His) n.109A>T c.908T>A (p.Leu303His) | |
6 | g.10404611G>A | CA362701453 | TFAP2A,TFAP2A-AS2 | c.643C>T (p.Leu215Phe) c.667C>T (p.Leu223Phe) c.*158C>T (n.*158C>T) c.232C>T (p.Leu78Phe) c.649C>T (p.Leu217Phe) c.661C>T (p.Leu221Phe) c.375C>T n.661C>T n.632C>T c.796C>T (p.Leu266Phe) c.511C>T (p.Leu171Phe) n.110G>A c.907C>T (p.Leu303Phe) | |
6 | g.10404611G>C | CA362701454 | TFAP2A,TFAP2A-AS2 | c.643C>G (p.Leu215Val) c.667C>G (p.Leu223Val) c.*158C>G (n.*158C>G) c.232C>G (p.Leu78Val) c.649C>G (p.Leu217Val) c.661C>G (p.Leu221Val) c.375C>G n.661C>G n.632C>G c.796C>G (p.Leu266Val) c.511C>G (p.Leu171Val) n.110G>C c.907C>G (p.Leu303Val) | |
6 | g.10404611G>T | CA362701456 | TFAP2A,TFAP2A-AS2 | c.643C>A (p.Leu215Ile) c.667C>A (p.Leu223Ile) c.*158C>A (n.*158C>A) c.232C>A (p.Leu78Ile) c.649C>A (p.Leu217Ile) c.661C>A (p.Leu221Ile) c.375C>A n.661C>A n.632C>A c.796C>A (p.Leu266Ile) c.511C>A (p.Leu171Ile) n.110G>T c.907C>A (p.Leu303Ile) |