Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.19116736A= | CA1692250167 | TWIST1 | c.586T= (p.Trp196=) c.383T= c.189T= n.937T= n.901T= | |
7 | g.19116736A>C | CA367015108 | TWIST1 | c.586T>G (p.Trp196Gly) c.383T>G c.189T>G n.937T>G n.901T>G | |
7 | g.19116736A>G | CA367015107 | TWIST1 | c.586T>C (p.Trp196Arg) c.383T>C c.189T>C n.937T>C n.901T>C | gnomAD v4 |
7 | g.19116736A>T | CA367015106 | TWIST1 | c.586T>A (p.Trp196Arg) c.383T>A c.189T>A n.937T>A n.901T>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19116737G>A | CA454066747 | TWIST1 | c.585C>T (p.Ala195=) c.382C>T c.188C>T n.936C>T n.900C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19116737G>C | CA4174462 | TWIST1 | c.585C>G (p.Ala195=) c.382C>G c.188C>G n.936C>G n.900C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.19116737G= | CA1692250170 | TWIST1 | c.585C= (p.Ala195=) c.382C= c.188C= n.936C= n.900C= | |
7 | g.19116737G>T | CA454066748 | TWIST1 | c.585C>A (p.Ala195=) c.382C>A c.188C>A n.936C>A n.900C>A | |
7 | g.19116738G>A | CA367015109 | TWIST1 | c.584C>T (p.Ala195Val) c.381C>T c.187C>T n.935C>T n.899C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19116738G>C | CA367015110 | TWIST1 | c.584C>G (p.Ala195Gly) c.381C>G c.187C>G n.935C>G n.899C>G | |
7 | g.19116738G= | CA1692250171 | TWIST1 | c.584C= (p.Ala195=) c.381C= c.187C= n.935C= n.899C= | |
7 | g.19116738G>T | CA367015111 | TWIST1 | c.584C>A (p.Ala195Asp) c.381C>A c.187C>A n.935C>A n.899C>A | gnomAD v4 |
7 | g.19116739C>A | CA367015112 | TWIST1 | c.583G>T (p.Ala195Ser) c.380G>T c.186G>T n.934G>T n.898G>T | |
7 | g.19116739C= | CA1692250174 | TWIST1 | c.583G= (p.Ala195=) c.380G= c.186G= n.934G= n.898G= | |
7 | g.19116739C>G | CA367015113 | TWIST1 | c.583G>C (p.Ala195Pro) c.380G>C c.186G>C n.934G>C n.898G>C | |
7 | g.19116739C>T | CA367015114 | TWIST1 | c.583G>A (p.Ala195Thr) c.380G>A c.186G>A n.934G>A n.898G>A | dbSNP |
7 | g.19116740C>A | CA454066749 | TWIST1 | c.582G>T (p.Gly194=) c.379G>T c.185G>T n.933G>T n.897G>T | |
7 | g.19116740C= | CA1692250177 | TWIST1 | c.582G= (p.Gly194=) c.379G= c.185G= n.933G= n.897G= | |
7 | g.19116740C>G | CA454066750 | TWIST1 | c.582G>C (p.Gly194=) c.379G>C c.185G>C n.933G>C n.897G>C | gnomAD v4 |
7 | g.19116740C>T | CA454066751 | TWIST1 | c.582G>A (p.Gly194=) c.379G>A c.185G>A n.933G>A n.897G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19116741C>A | CA367015115 | TWIST1 | c.581G>T (p.Gly194Val) c.378G>T c.184G>T n.932G>T n.896G>T | gnomAD v4 |
7 | g.19116741C>G | CA367015116 | TWIST1 | c.581G>C (p.Gly194Ala) c.378G>C c.184G>C n.932G>C n.896G>C | |
7 | g.19116741C>T | CA367015117 | TWIST1 | c.581G>A (p.Gly194Glu) c.378G>A c.184G>A n.932G>A n.896G>A | |
7 | g.19116742C>A | CA367015118 | TWIST1 | c.580G>T (p.Gly194Trp) c.377G>T c.183G>T n.931G>T n.895G>T | |
7 | g.19116742C>G | CA367015119 | TWIST1 | c.580G>C (p.Gly194Arg) c.377G>C c.183G>C n.931G>C n.895G>C | |
7 | g.19116742C>T | CA367015120 | TWIST1 | c.580G>A (p.Gly194Arg) c.377G>A c.183G>A n.931G>A n.895G>A | gnomAD v4 |
7 | g.19116743C>A | CA367015122 | TWIST1 | c.579G>T (p.Glu193Asp) c.376G>T c.182G>T n.930G>T n.894G>T | |
7 | g.19116743C= | CA1692250180 | TWIST1 | c.579G= (p.Glu193=) c.376G= c.182G= n.930G= n.894G= | |
7 | g.19116743C>G | CA367015121 | TWIST1 | c.579G>C (p.Glu193Asp) c.376G>C c.182G>C n.930G>C n.894G>C | |
7 | g.19116743C>T | CA4174463 | TWIST1 | c.579G>A (p.Glu193=) c.376G>A c.182G>A n.930G>A n.894G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.19116744T>A | CA367015123 | TWIST1 | c.578A>T (p.Glu193Val) c.375A>T c.181A>T n.929A>T n.893A>T | |
7 | g.19116744T>C | CA367015124 | TWIST1 | c.578A>G (p.Glu193Gly) c.375A>G c.181A>G n.929A>G n.893A>G | |
7 | g.19116744T>G | CA367015125 | TWIST1 | c.578A>C (p.Glu193Ala) c.375A>C c.181A>C n.929A>C n.893A>C | |
7 | g.19116745C>A | CA367015126 | TWIST1 | c.577G>T (p.Glu193Ter) c.374G>T c.180G>T n.928G>T n.892G>T | gnomAD v4 |
7 | g.19116745C= | CA1692250184 | TWIST1 | c.577G= (p.Glu193=) c.374G= c.180G= n.928G= n.892G= | |
7 | g.19116745C>G | CA367015127 | TWIST1 | c.577G>C (p.Glu193Gln) c.374G>C c.180G>C n.928G>C n.892G>C | |
7 | g.19116745C>T | CA367015128 | TWIST1 | c.577G>A (p.Glu193Lys) c.374G>A c.180G>A n.928G>A n.892G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19116746C>A | CA367015129 | TWIST1 | c.576G>T (p.Met192Ile) c.373G>T c.179G>T n.927G>T n.891G>T | |
7 | g.19116746C>G | CA367015130 | TWIST1 | c.576G>C (p.Met192Ile) c.373G>C c.179G>C n.927G>C n.891G>C | |
7 | g.19116746C>T | CA367015131 | TWIST1 | c.576G>A (p.Met192Ile) c.373G>A c.179G>A n.927G>A n.891G>A | |
7 | g.19116747A>C | CA367015132 | TWIST1 | c.575T>G (p.Met192Arg) c.372T>G c.178T>G n.926T>G n.890T>G | |
7 | g.19116747A>G | CA367015133 | TWIST1 | c.575T>C (p.Met192Thr) c.372T>C c.178T>C n.926T>C n.890T>C | |
7 | g.19116747A>T | CA367015134 | TWIST1 | c.575T>A (p.Met192Lys) c.372T>A c.178T>A n.926T>A n.890T>A | |
7 | g.19116748T>A | CA367015136 | TWIST1 | c.574A>T (p.Met192Leu) c.371A>T c.177A>T n.925A>T n.889A>T | |
7 | g.19116748T>C | CA367015137 | TWIST1 | c.574A>G (p.Met192Val) c.371A>G c.177A>G n.925A>G n.889A>G | |
7 | g.19116748T>G | CA367015135 | TWIST1 | c.574A>C (p.Met192Leu) c.371A>C c.177A>C n.925A>C n.889A>C | |
7 | g.19116749C>A | CA367015138 | TWIST1 | c.573G>T (p.Arg191Ser) c.370G>T c.176G>T n.924G>T n.888G>T | |
7 | g.19116749C= | CA1692250186 | TWIST1 | c.573G= (p.Arg191=) c.370G= c.176G= n.924G= n.888G= | |
7 | g.19116749C>G | CA155466569 | TWIST1 | c.573G>C (p.Arg191Ser) c.370G>C c.176G>C n.924G>C n.888G>C | dbSNP |
7 | g.19116749C>T | CA454066752 | TWIST1 | c.573G>A (p.Arg191=) c.370G>A c.176G>A n.924G>A n.888G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19116750C>A | CA367015141 | TWIST1 | c.572G>T (p.Arg191Met) c.369G>T c.175G>T n.923G>T n.887G>T | |
7 | g.19116750C>G | CA367015139 | TWIST1 | c.572G>C (p.Arg191Thr) c.369G>C c.175G>C n.923G>C n.887G>C | |
7 | g.19116750C>T | CA367015140 | TWIST1 | c.572G>A (p.Arg191Lys) c.369G>A c.175G>A n.923G>A n.887G>A | |
7 | g.19116751T>A | CA367015142 | TWIST1 | c.571A>T (p.Arg191Trp) c.368A>T c.174A>T n.922A>T n.886A>T | |
7 | g.19116751T>C | CA367015143 | TWIST1 | c.571A>G (p.Arg191Gly) c.368A>G c.174A>G n.922A>G n.886A>G | gnomAD v4 |
7 | g.19116751T>G | CA155466570 | TWIST1 | c.571A>C (p.Arg191=) c.368A>C c.174A>C n.922A>C n.886A>C | dbSNP |
7 | g.19116751T= | CA1692250189 | TWIST1 | c.571A= (p.Arg191=) c.368A= c.174A= n.922A= n.886A= | |
7 | g.19116752C>A | CA367015144 | TWIST1 | c.570G>T (p.Trp190Cys) c.367G>T c.173G>T n.921G>T n.885G>T | |
7 | g.19116752C= | CA1692250194 | TWIST1 | c.570G= (p.Trp190=) c.367G= c.173G= n.921G= n.885G= | |
7 | g.19116752C>G | CA367015145 | TWIST1 | c.570G>C (p.Trp190Cys) c.367G>C c.173G>C n.921G>C n.885G>C | COSMIC |
7 | g.19116752C>T | CA4174464 | TWIST1 | c.570G>A (p.Trp190Ter) c.367G>A c.173G>A n.921G>A n.885G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.19116753C>A | CA367015146 | TWIST1 | c.569G>T (p.Trp190Leu) c.366G>T c.172G>T n.920G>T n.884G>T | |
7 | g.19116753C>G | CA367015147 | TWIST1 | c.569G>C (p.Trp190Ser) c.366G>C c.172G>C n.920G>C n.884G>C | |
7 | g.19116753C>T | CA367015148 | TWIST1 | c.569G>A (p.Trp190Ter) c.366G>A c.172G>A n.920G>A n.884G>A | |
7 | g.19116754A>C | CA367015151 | TWIST1 | c.568T>G (p.Trp190Gly) c.365T>G c.171T>G n.919T>G n.883T>G | |
7 | g.19116754A>G | CA367015150 | TWIST1 | c.568T>C (p.Trp190Arg) c.365T>C c.171T>C n.919T>C n.883T>C | |
7 | g.19116754A>T | CA367015149 | TWIST1 | c.568T>A (p.Trp190Arg) c.365T>A c.171T>A n.919T>A n.883T>A | |
7 | g.19116755G>A | CA454066753 | TWIST1 | c.567C>T (p.Val189=) c.364C>T c.170C>T n.918C>T n.882C>T | |
7 | g.19116755G>C | CA155466571 | TWIST1 | c.567C>G (p.Val189=) c.364C>G c.170C>G n.918C>G n.882C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19116755G= | CA1692250199 | TWIST1 | c.567C= (p.Val189=) c.364C= c.170C= n.918C= n.882C= | |
7 | g.19116755G>T | CA454066754 | TWIST1 | c.567C>A (p.Val189=) c.364C>A c.170C>A n.918C>A n.882C>A | |
7 | g.19116756A= | CA1692250201 | TWIST1 | c.566T= (p.Val189=) c.363T= c.169T= n.917T= n.881T= | |
7 | g.19116756A>C | CA367015152 | TWIST1 | c.566T>G (p.Val189Gly) c.363T>G c.169T>G n.917T>G n.881T>G | gnomAD v4 |
7 | g.19116756A>G | CA367015153 | TWIST1 | c.566T>C (p.Val189Ala) c.363T>C c.169T>C n.917T>C n.881T>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19116756A>T | CA367015154 | TWIST1 | c.566T>A (p.Val189Asp) c.363T>A c.169T>A n.917T>A n.881T>A | |
7 | g.19116757C>A | CA367015155 | TWIST1 | c.565G>T (p.Val189Phe) c.362G>T c.168G>T n.916G>T n.880G>T | |
7 | g.19116757C= | CA1692250206 | TWIST1 | c.565G= (p.Val189=) c.362G= c.168G= n.916G= n.880G= | |
7 | g.19116757C>G | CA367015156 | TWIST1 | c.565G>C (p.Val189Leu) c.362G>C c.168G>C n.916G>C n.880G>C | |
7 | g.19116757C>T | CA367015157 | TWIST1 | c.565G>A (p.Val189Ile) c.362G>A c.168G>A n.916G>A n.880G>A | ClinVar dbSNP gnomAD v4 |
7 | g.19116758C>A | CA454066756 | TWIST1 | c.564G>T (p.Ser188=) c.361G>T c.167G>T n.915G>T n.879G>T | dbSNP |
7 | g.19116758C= | CA1692250208 | TWIST1 | c.564G= (p.Ser188=) c.361G= c.167G= n.915G= n.879G= | |
7 | g.19116758C>G | CA454066755 | TWIST1 | c.564G>C (p.Ser188=) c.361G>C c.167G>C n.915G>C n.879G>C | dbSNP gnomAD v2 COSMIC |
7 | g.19116758C>T | CA454066757 | TWIST1 | c.564G>A (p.Ser188=) c.361G>A c.167G>A n.915G>A n.879G>A | gnomAD v4 COSMIC |
7 | g.19116759G>A | CA340715 | TWIST1 | c.563C>T (p.Ser188Leu) c.360C>T c.166C>T n.914C>T n.878C>T | ClinVar dbSNP gnomAD v4 |
7 | g.19116759G>C | CA367015158 | TWIST1 | c.563C>G (p.Ser188Trp) c.360C>G c.166C>G n.914C>G n.878C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19116759G= | CA1692250215 | TWIST1 | c.563C= (p.Ser188=) c.360C= c.166C= n.914C= n.878C= | |
7 | g.19116759G>T | CA367015159 | TWIST1 | c.563C>A (p.Ser188Ter) c.360C>A c.166C>A n.914C>A n.878C>A | gnomAD v4 |
7 | g.19116760A>C | CA367015160 | TWIST1 | c.562T>G (p.Ser188Ala) c.359T>G c.165T>G n.913T>G n.877T>G | |
7 | g.19116760A>G | CA367015161 | TWIST1 | c.562T>C (p.Ser188Pro) c.359T>C c.165T>C n.913T>C n.877T>C | |
7 | g.19116760A>T | CA367015162 | TWIST1 | c.562T>A (p.Ser188Thr) c.359T>A c.165T>A n.913T>A n.877T>A | |
7 | g.19116761G>A | CA454066758 | TWIST1 | c.561C>T (p.Phe187=) c.358C>T c.164C>T n.912C>T n.876C>T | |
7 | g.19116761G>C | CA367015163 | TWIST1 | c.561C>G (p.Phe187Leu) c.358C>G c.164C>G n.912C>G n.876C>G | |
7 | g.19116761G>T | CA367015164 | TWIST1 | c.561C>A (p.Phe187Leu) c.358C>A c.164C>A n.912C>A n.876C>A | |
7 | g.19116762A= | CA1692250221 | TWIST1 | c.560T= (p.Phe187=) c.357T= c.163T= n.911T= n.875T= | |
7 | g.19116762A>C | CA367015165 | TWIST1 | c.560T>G (p.Phe187Cys) c.357T>G c.163T>G n.911T>G n.875T>G | |
7 | g.19116762A>G | CA367015166 | TWIST1 | c.560T>C (p.Phe187Ser) c.357T>C c.163T>C n.911T>C n.875T>C | ClinVar dbSNP |
7 | g.19116762A>T | CA367015167 | TWIST1 | c.560T>A (p.Phe187Tyr) c.357T>A c.163T>A n.911T>A n.875T>A | |
7 | g.19116763A>C | CA367015168 | TWIST1 | c.559T>G (p.Phe187Val) c.356T>G c.162T>G n.910T>G n.874T>G | |
7 | g.19116763A>G | CA367015169 | TWIST1 | c.559T>C (p.Phe187Leu) c.356T>C c.162T>C n.910T>C n.874T>C | |
7 | g.19116763A>T | CA367015170 | TWIST1 | c.559T>A (p.Phe187Ile) c.356T>A c.162T>A n.910T>A n.874T>A | |
7 | g.19116764G>A | CA454066759 | TWIST1 | c.558C>T (p.Ala186=) c.355C>T c.161C>T n.909C>T n.873C>T | gnomAD v4 |
7 | g.19116764G>C | CA454066760 | TWIST1 | c.558C>G (p.Ala186=) c.355C>G c.161C>G n.909C>G n.873C>G | |
7 | g.19116764G>T | CA454066761 | TWIST1 | c.558C>A (p.Ala186=) c.355C>A c.161C>A n.909C>A n.873C>A | |
7 | g.19116765G>A | CA367015173 | TWIST1 | c.557C>T (p.Ala186Val) c.354C>T c.160C>T n.908C>T n.872C>T | |
7 | g.19116765G>C | CA367015171 | TWIST1 | c.557C>G (p.Ala186Gly) c.354C>G c.160C>G n.908C>G n.872C>G | |
7 | g.19116765G>T | CA367015172 | TWIST1 | c.557C>A (p.Ala186Asp) c.354C>A c.160C>A n.908C>A n.872C>A | |
7 | g.19116766C>A | CA367015174 | TWIST1 | c.556G>T (p.Ala186Ser) c.353G>T c.159G>T n.907G>T n.871G>T | |
7 | g.19116766C= | CA1692250224 | TWIST1 | c.556G= (p.Ala186=) c.353G= c.159G= n.907G= n.871G= | |
7 | g.19116766C>G | CA367015175 | TWIST1 | c.556G>C (p.Ala186Pro) c.353G>C c.159G>C n.907G>C n.871G>C | |
7 | g.19116766C>T | CA340714 | TWIST1 | c.556G>A (p.Ala186Thr) c.353G>A c.159G>A n.907G>A n.871G>A | ClinVar dbSNP |
7 | g.19116767G>A | CA454066762 | TWIST1 | c.555C>T (p.Tyr185=) c.352C>T c.158C>T n.906C>T n.870C>T | |
7 | g.19116767G>C | CA367015176 | TWIST1 | c.555C>G (p.Tyr185Ter) c.352C>G c.158C>G n.906C>G n.870C>G | |
7 | g.19116767G>T | CA367015177 | TWIST1 | c.555C>A (p.Tyr185Ter) c.352C>A c.158C>A n.906C>A n.870C>A | |
7 | g.19116768T>A | CA367015178 | TWIST1 | c.554A>T (p.Tyr185Phe) c.351A>T c.157A>T n.905A>T n.869A>T | |
7 | g.19116768T>C | CA367015180 | TWIST1 | c.554A>G (p.Tyr185Cys) c.351A>G c.157A>G n.905A>G n.869A>G | |
7 | g.19116768T>G | CA367015179 | TWIST1 | c.554A>C (p.Tyr185Ser) c.351A>C c.157A>C n.905A>C n.869A>C | |
7 | g.19116769A= | CA1692250228 | TWIST1 | c.553T= (p.Tyr185=) c.350T= c.156T= n.904T= n.868T= | |
7 | g.19116769A>C | CA367015181 | TWIST1 | c.553T>G (p.Tyr185Asp) c.350T>G c.156T>G n.904T>G n.868T>G | gnomAD v4 |
7 | g.19116769A>G | CA367015182 | TWIST1 | c.553T>C (p.Tyr185His) c.350T>C c.156T>C n.904T>C n.868T>C | dbSNP |
7 | g.19116769A>T | CA367015183 | TWIST1 | c.553T>A (p.Tyr185Asn) c.350T>A c.156T>A n.904T>A n.868T>A | |
7 | g.19116770G>A | CA454066763 | TWIST1 | c.552C>T (p.Ser184=) c.349C>T c.155C>T n.903C>T n.867C>T | |
7 | g.19116770G>C | CA367015184 | TWIST1 | c.552C>G (p.Ser184Arg) c.349C>G c.155C>G n.903C>G n.867C>G | |
7 | g.19116770G>T | CA367015185 | TWIST1 | c.552C>A (p.Ser184Arg) c.349C>A c.155C>A n.903C>A n.867C>A | |
7 | g.19116771C>A | CA367015186 | TWIST1 | c.551G>T (p.Ser184Ile) c.348G>T c.154G>T n.902G>T n.866G>T | COSMIC |
7 | g.19116771C>G | CA367015187 | TWIST1 | c.551G>C (p.Ser184Thr) c.348G>C c.154G>C n.902G>C n.866G>C | |
7 | g.19116771C>T | CA367015188 | TWIST1 | c.551G>A (p.Ser184Asn) c.348G>A c.154G>A n.902G>A n.866G>A | |
7 | g.19116772T>A | CA367015189 | TWIST1 | c.550A>T (p.Ser184Cys) c.347A>T c.153A>T n.901A>T n.865A>T | |
7 | g.19116772T>C | CA367015190 | TWIST1 | c.550A>G (p.Ser184Gly) c.347A>G c.153A>G n.901A>G n.865A>G | COSMIC |
7 | g.19116772T>G | CA367015191 | TWIST1 | c.550A>C (p.Ser184Arg) c.347A>C c.153A>C n.901A>C n.865A>C | |
7 | g.19116773G>A | CA454066764 | TWIST1 | c.549C>T (p.Leu183=) c.346C>T c.152C>T n.900C>T n.864C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19116773G>C | CA454066765 | TWIST1 | c.549C>G (p.Leu183=) c.346C>G c.152C>G n.900C>G n.864C>G | |
7 | g.19116773G= | CA1692250231 | TWIST1 | c.549C= (p.Leu183=) c.346C= c.152C= n.900C= n.864C= | |
7 | g.19116773G>T | CA454066766 | TWIST1 | c.549C>A (p.Leu183=) c.346C>A c.152C>A n.900C>A n.864C>A | |
7 | g.19116774A>C | CA367015193 | TWIST1 | c.548T>G (p.Leu183Arg) c.345T>G c.151T>G n.899T>G n.863T>G | |
7 | g.19116774A>G | CA367015194 | TWIST1 | c.548T>C (p.Leu183Pro) c.345T>C c.151T>C n.899T>C n.863T>C | |
7 | g.19116774A>T | CA367015192 | TWIST1 | c.548T>A (p.Leu183His) c.345T>A c.151T>A n.899T>A n.863T>A | |
7 | g.19116775G>A | CA367015195 | TWIST1 | c.547C>T (p.Leu183Phe) c.344C>T c.150C>T n.898C>T n.862C>T | |
7 | g.19116775G>C | CA367015196 | TWIST1 | c.547C>G (p.Leu183Val) c.344C>G c.150C>G n.898C>G n.862C>G | |
7 | g.19116775G>T | CA367015197 | TWIST1 | c.547C>A (p.Leu183Ile) c.344C>A c.150C>A n.898C>A n.862C>A | |
7 | g.19116776C>A | CA4174465 | TWIST1 | c.546G>T (p.Arg182=) c.343G>T c.149G>T n.897G>T n.861G>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.19116776C= | CA1692250234 | TWIST1 | c.546G= (p.Arg182=) c.343G= c.149G= n.897G= n.861G= | |
7 | g.19116776C>G | CA155466572 | TWIST1 | c.546G>C (p.Arg182=) c.343G>C c.149G>C n.897G>C n.861G>C | dbSNP |
7 | g.19116776C>T | CA454066767 | TWIST1 | c.546G>A (p.Arg182=) c.343G>A c.149G>A n.897G>A n.861G>A | |
7 | g.19116777C>A | CA367015200 | TWIST1 | c.545G>T (p.Arg182Leu) c.342G>T c.148G>T n.896G>T n.860G>T | ClinVar |
7 | g.19116777C>G | CA367015199 | TWIST1 | c.545G>C (p.Arg182Pro) c.342G>C c.148G>C n.896G>C n.860G>C | |
7 | g.19116777C>T | CA367015198 | TWIST1 | c.545G>A (p.Arg182Gln) c.342G>A c.148G>A n.896G>A n.860G>A | |
7 | g.19116778G>A | CA367015201 | TWIST1 | c.544C>T (p.Arg182Trp) c.341C>T c.147C>T n.895C>T n.859C>T | COSMIC |
7 | g.19116778G>C | CA367015202 | TWIST1 | c.544C>G (p.Arg182Gly) c.341C>G c.147C>G n.895C>G n.859C>G | |
7 | g.19116778G>T | CA454066768 | TWIST1 | c.544C>A (p.Arg182=) c.341C>A c.147C>A n.895C>A n.859C>A | |
7 | g.19116779C>A | CA367015203 | TWIST1 | c.543G>T (p.Glu181Asp) c.340G>T c.146G>T n.894G>T n.858G>T | |
7 | g.19116779C>G | CA367015204 | TWIST1 | c.543G>C (p.Glu181Asp) c.340G>C c.146G>C n.894G>C n.858G>C | |
7 | g.19116779C>T | CA454066769 | TWIST1 | c.543G>A (p.Glu181=) c.340G>A c.146G>A n.894G>A n.858G>A | gnomAD v4 |
7 | g.19116780T>A | CA367015205 | TWIST1 | c.542A>T (p.Glu181Val) c.339A>T c.145A>T n.893A>T n.857A>T | |
7 | g.19116780T>C | CA367015206 | TWIST1 | c.542A>G (p.Glu181Gly) c.339A>G c.145A>G n.893A>G n.857A>G | COSMIC |
7 | g.19116780T>G | CA367015207 | TWIST1 | c.542A>C (p.Glu181Ala) c.339A>C c.145A>C n.893A>C n.857A>C | |
7 | g.19116781C>A | CA254292 | TWIST1 | c.541G>T (p.Glu181Ter) c.338G>T c.144G>T n.892G>T n.856G>T | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.19116781C= | CA1692250241 | TWIST1 | c.541G= (p.Glu181=) c.338G= c.144G= n.892G= n.856G= | |
7 | g.19116781C>G | CA4174466 | TWIST1 | c.541G>C (p.Glu181Gln) c.338G>C c.144G>C n.892G>C n.856G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19116781C>T | CA155466573 | TWIST1 | c.541G>A (p.Glu181Lys) c.338G>A c.144G>A n.892G>A n.856G>A | dbSNP gnomAD v4 COSMIC |
7 | g.19116782G>A | CA454066770 | TWIST1 | c.540C>T (p.His180=) c.337C>T c.143C>T n.891C>T n.855C>T | |
7 | g.19116782G>C | CA367015208 | TWIST1 | c.540C>G (p.His180Gln) c.337C>G c.143C>G n.891C>G n.855C>G | |
7 | g.19116782G>T | CA367015209 | TWIST1 | c.540C>A (p.His180Gln) c.337C>A c.143C>A n.891C>A n.855C>A | |
7 | g.19116783T>A | CA367015210 | TWIST1 | c.539A>T (p.His180Leu) c.336A>T c.142A>T n.890A>T n.854A>T | |
7 | g.19116783T>C | CA367015211 | TWIST1 | c.539A>G (p.His180Arg) c.336A>G c.142A>G n.890A>G n.854A>G | |
7 | g.19116783T>G | CA367015212 | TWIST1 | c.539A>C (p.His180Pro) c.336A>C c.142A>C n.890A>C n.854A>C | gnomAD v3 gnomAD v4 |
7 | g.19116784G>A | CA367015213 | TWIST1 | c.538C>T (p.His180Tyr) c.335C>T c.141C>T n.889C>T n.853C>T | |
7 | g.19116784G>C | CA4174467 | TWIST1 | c.538C>G (p.His180Asp) c.335C>G c.141C>G n.889C>G n.853C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19116784G= | CA1692250246 | TWIST1 | c.538C= (p.His180=) c.335C= c.141C= n.889C= n.853C= | |
7 | g.19116784G>T | CA367015214 | TWIST1 | c.538C>A (p.His180Asn) c.335C>A c.141C>A n.889C>A n.853C>A | |
7 | g.19116785A= | CA1692250250 | TWIST1 | c.537T= (p.Ala179=) c.334T= c.140T= n.888T= n.852T= | |
7 | g.19116785A>C | CA454143411 | TWIST1 | c.537T>G (p.Ala179=) c.334T>G c.140T>G n.888T>G n.852T>G | |
7 | g.19116785A>G | CA155466574 | TWIST1 | c.537T>C (p.Ala179=) c.334T>C c.140T>C n.888T>C n.852T>C | dbSNP gnomAD v4 COSMIC |
7 | g.19116785A>T | CA454143412 | TWIST1 | c.537T>A (p.Ala179=) c.334T>A c.140T>A n.888T>A n.852T>A | |
7 | g.19116788_19116795dup | CA2573142036 | TWIST1 | c.530_537dup (p.His180MetfsTer?) c.327_334dup c.133_140dup n.881_888dup n.845_852dup | ClinVar dbSNP |
7 | g.19116786G>A | CA367015215 | TWIST1 | c.536C>T (p.Ala179Val) c.333C>T c.139C>T n.887C>T n.851C>T | gnomAD v4 |
7 | g.19116786G>C | CA367015216 | TWIST1 | c.536C>G (p.Ala179Gly) c.333C>G c.139C>G n.887C>G n.851C>G | |
7 | g.19116786G>T | CA367015217 | TWIST1 | c.536C>A (p.Ala179Asp) c.333C>A c.139C>A n.887C>A n.851C>A | |
7 | g.19116787C>A | CA367015218 | TWIST1 | c.535G>T (p.Ala179Ser) c.332G>T c.138G>T n.886G>T n.850G>T | |
7 | g.19116787C>G | CA367015220 | TWIST1 | c.535G>C (p.Ala179Pro) c.332G>C c.138G>C n.886G>C n.850G>C | |
7 | g.19116787C>T | CA367015219 | TWIST1 | c.535G>A (p.Ala179Thr) c.332G>A c.138G>A n.886G>A n.850G>A | |
7 | g.19116788C>A | CA155466575 | TWIST1 | c.534G>T (p.Val178=) c.331G>T c.137G>T n.885G>T n.849G>T | dbSNP gnomAD v4 |
7 | g.19116788C= | CA1692250255 | TWIST1 | c.534G= (p.Val178=) c.331G= c.137G= n.885G= n.849G= | |
7 | g.19116788C>G | CA4174468 | TWIST1 | c.534G>C (p.Val178=) c.331G>C c.137G>C n.885G>C n.849G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.19116788C>T | CA454143416 | TWIST1 | c.534G>A (p.Val178=) c.331G>A c.137G>A n.885G>A n.849G>A | |
7 | g.19116789A>C | CA367015221 | TWIST1 | c.533T>G (p.Val178Gly) c.330T>G c.136T>G n.884T>G n.848T>G | |
7 | g.19116789A>G | CA367015222 | TWIST1 | c.533T>C (p.Val178Ala) c.330T>C c.136T>C n.884T>C n.848T>C | |
7 | g.19116789A>T | CA367015223 | TWIST1 | c.533T>A (p.Val178Glu) c.330T>A c.136T>A n.884T>A n.848T>A | |
7 | g.19116790C>A | CA367015224 | TWIST1 | c.532G>T (p.Val178Leu) c.329G>T c.135G>T n.883G>T n.847G>T | COSMIC |
7 | g.19116790C= | CA1692250261 | TWIST1 | c.532G= (p.Val178=) c.329G= c.135G= n.883G= n.847G= | |
7 | g.19116790C>G | CA367015225 | TWIST1 | c.532G>C (p.Val178Leu) c.329G>C c.135G>C n.883G>C n.847G>C | |
7 | g.19116790C>T | CA367015226 | TWIST1 | c.532G>A (p.Val178Met) c.329G>A c.135G>A n.883G>A n.847G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19116791A= | CA1692250265 | TWIST1 | c.531T= (p.Tyr177=) c.328T= c.134T= n.882T= n.846T= | |
7 | g.19116791A>C | CA367015227 | TWIST1 | c.531T>G (p.Tyr177Ter) c.328T>G c.134T>G n.882T>G n.846T>G | |
7 | g.19116791A>G | CA155466576 | TWIST1 | c.531T>C (p.Tyr177=) c.328T>C c.134T>C n.882T>C n.846T>C | dbSNP gnomAD v4 |
7 | g.19116791A>T | CA367015228 | TWIST1 | c.531T>A (p.Tyr177Ter) c.328T>A c.134T>A n.882T>A n.846T>A | ClinVar |
7 | g.19116792T>A | CA367015229 | TWIST1 | c.530A>T (p.Tyr177Phe) c.327A>T c.133A>T n.881A>T n.845A>T | dbSNP gnomAD v4 |
7 | g.19116792T>C | CA367015230 | TWIST1 | c.530A>G (p.Tyr177Cys) c.327A>G c.133A>G n.881A>G n.845A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.19116792T>G | CA367015231 | TWIST1 | c.530A>C (p.Tyr177Ser) c.327A>C c.133A>C n.881A>C n.845A>C | ClinVar dbSNP gnomAD v4 |
7 | g.19116792T= | CA1692250267 | TWIST1 | c.530A= (p.Tyr177=) c.327A= c.133A= n.881A= n.845A= | |
7 | g.19116793A>C | CA367015234 | TWIST1 | c.529T>G (p.Tyr177Asp) c.326T>G c.132T>G n.880T>G n.844T>G | |
7 | g.19116793A>G | CA367015232 | TWIST1 | c.529T>C (p.Tyr177His) c.326T>C c.132T>C n.880T>C n.844T>C | |
7 | g.19116793A>T | CA367015233 | TWIST1 | c.529T>A (p.Tyr177Asn) c.326T>A c.132T>A n.880T>A n.844T>A | |
7 | g.19116794G>A | CA454143418 | TWIST1 | c.528C>T (p.Ser176=) c.325C>T c.131C>T n.879C>T n.843C>T | gnomAD v4 COSMIC |
7 | g.19116794G>C | CA367015235 | TWIST1 | c.528C>G (p.Ser176Arg) c.325C>G c.131C>G n.879C>G n.843C>G | ClinVar |
7 | g.19116794G>T | CA367015236 | TWIST1 | c.528C>A (p.Ser176Arg) c.325C>A c.131C>A n.879C>A n.843C>A | |
7 | g.19116795C>A | CA367015237 | TWIST1 | c.527G>T (p.Ser176Ile) c.324G>T c.130G>T n.878G>T n.842G>T | |
7 | g.19116795C= | CA1692250270 | TWIST1 | c.527G= (p.Ser176=) c.324G= c.130G= n.878G= n.842G= | |
7 | g.19116795C>G | CA367015238 | TWIST1 | c.527G>C (p.Ser176Thr) c.324G>C c.130G>C n.878G>C n.842G>C | |
7 | g.19116795C>T | CA367015239 | TWIST1 | c.527G>A (p.Ser176Asn) c.324G>A c.130G>A n.878G>A n.842G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19116796T>A | CA367015240 | TWIST1 | c.526A>T (p.Ser176Cys) c.323A>T c.129A>T n.877A>T n.841A>T | |
7 | g.19116796T>C | CA367015241 | TWIST1 | c.526A>G (p.Ser176Gly) c.323A>G c.129A>G n.877A>G n.841A>G | gnomAD v4 COSMIC |
7 | g.19116796T>G | CA367015242 | TWIST1 | c.526A>C (p.Ser176Arg) c.323A>C c.129A>C n.877A>C n.841A>C | |
7 | g.19116797G>A | CA454143421 | TWIST1 | c.525C>T (p.Cys175=) c.322C>T c.128C>T n.876C>T n.840C>T | dbSNP gnomAD v4 |
7 | g.19116797G>C | CA367015243 | TWIST1 | c.525C>G (p.Cys175Trp) c.322C>G c.128C>G n.876C>G n.840C>G | |
7 | g.19116797G= | CA1692250275 | TWIST1 | c.525C= (p.Cys175=) c.322C= c.128C= n.876C= n.840C= | |
7 | g.19116797G>T | CA367015244 | TWIST1 | c.525C>A (p.Cys175Ter) c.322C>A c.128C>A n.876C>A n.840C>A | |
7 | g.19116798C>A | CA367015245 | TWIST1 | c.524G>T (p.Cys175Phe) c.321G>T c.127G>T n.875G>T n.839G>T | |
7 | g.19116798C>G | CA367015246 | TWIST1 | c.524G>C (p.Cys175Ser) c.321G>C c.127G>C n.875G>C n.839G>C | |
7 | g.19116798C>T | CA367015247 | TWIST1 | c.524G>A (p.Cys175Tyr) c.321G>A c.127G>A n.875G>A n.839G>A | |
7 | g.19116799A>C | CA367015250 | TWIST1 | c.523T>G (p.Cys175Gly) c.320T>G c.126T>G n.874T>G n.838T>G | |
7 | g.19116799A>G | CA367015249 | TWIST1 | c.523T>C (p.Cys175Arg) c.320T>C c.126T>C n.874T>C n.838T>C | |
7 | g.19116799A>T | CA367015248 | TWIST1 | c.523T>A (p.Cys175Ser) c.320T>A c.126T>A n.874T>A n.838T>A | |
7 | g.19116800G>A | CA454143422 | TWIST1 | c.522C>T (p.Ser174=) c.319C>T c.125C>T n.873C>T n.837C>T | |
7 | g.19116800G>C | CA367015252 | TWIST1 | c.522C>G (p.Ser174Arg) c.319C>G c.125C>G n.873C>G n.837C>G | |
7 | g.19116800G>T | CA367015251 | TWIST1 | c.522C>A (p.Ser174Arg) c.319C>A c.125C>A n.873C>A n.837C>A | |
7 | g.19116801C>A | CA367015254 | TWIST1 | c.521G>T (p.Ser174Ile) c.318G>T c.124G>T n.872G>T n.836G>T | |
7 | g.19116801C>G | CA367015253 | TWIST1 | c.521G>C (p.Ser174Thr) c.318G>C c.124G>C n.872G>C n.836G>C | |
7 | g.19116801C>T | CA367015255 | TWIST1 | c.521G>A (p.Ser174Asn) c.318G>A c.124G>A n.872G>A n.836G>A | |
7 | g.19116802T>A | CA367015256 | TWIST1 | c.520A>T (p.Ser174Cys) c.317A>T c.123A>T n.871A>T n.835A>T | |
7 | g.19116802T>C | CA367015258 | TWIST1 | c.520A>G (p.Ser174Gly) c.317A>G c.123A>G n.871A>G n.835A>G | dbSNP gnomAD v4 |
7 | g.19116802T>G | CA367015257 | TWIST1 | c.520A>C (p.Ser174Arg) c.317A>C c.123A>C n.871A>C n.835A>C | |
7 | g.19116802T= | CA1692250278 | TWIST1 | c.520A= (p.Ser174=) c.317A= c.123A= n.871A= n.835A= | |
7 | g.19116803T>A | CA454143424 | TWIST1 | c.519A>T (p.Ala173=) c.316A>T c.122A>T n.870A>T n.834A>T | |
7 | g.19116803T>C | CA454143425 | TWIST1 | c.519A>G (p.Ala173=) c.316A>G c.122A>G n.870A>G n.834A>G | |
7 | g.19116803T>G | CA155466577 | TWIST1 | c.519A>C (p.Ala173=) c.316A>C c.122A>C n.870A>C n.834A>C | dbSNP |
7 | g.19116803T= | CA1692250282 | TWIST1 | c.519A= (p.Ala173=) c.316A= c.122A= n.870A= n.834A= | |
7 | g.19116804del | CA2573142037 | TWIST1 | c.518del (p.Ala173GlufsTer?) c.315del c.121del n.869del n.833del | ClinVar dbSNP |
7 | g.19116804G>A | CA367015261 | TWIST1 | c.518C>T (p.Ala173Val) c.315C>T c.121C>T n.869C>T n.833C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19116804G>C | CA367015259 | TWIST1 | c.518C>G (p.Ala173Gly) c.315C>G c.121C>G n.869C>G n.833C>G | |
7 | g.19116804G= | CA1692250284 | TWIST1 | c.518C= (p.Ala173=) c.315C= c.121C= n.869C= n.833C= | |
7 | g.19116804G>T | CA367015260 | TWIST1 | c.518C>A (p.Ala173Glu) c.315C>A c.121C>A n.869C>A n.833C>A | |
7 | g.19116805C>A | CA367015262 | TWIST1 | c.517G>T (p.Ala173Ser) c.314G>T c.120G>T n.868G>T n.832G>T | |
7 | g.19116805C= | CA1692250287 | TWIST1 | c.517G= (p.Ala173=) c.314G= c.120G= n.868G= n.832G= | |
7 | g.19116805C>G | CA367015263 | TWIST1 | c.517G>C (p.Ala173Pro) c.314G>C c.120G>C n.868G>C n.832G>C | |
7 | g.19116805C>T | CA155466578 | TWIST1 | c.517G>A (p.Ala173Thr) c.314G>A c.120G>A n.868G>A n.832G>A | dbSNP gnomAD v4 |
7 | g.19116806C>A | CA367015264 | TWIST1 | c.516G>T (p.Met172Ile) c.313G>T c.119G>T n.867G>T n.831G>T | |
7 | g.19116806C= | CA1692250291 | TWIST1 | c.516G= (p.Met172=) c.313G= c.119G= n.867G= n.831G= | |
7 | g.19116806C>G | CA367015265 | TWIST1 | c.516G>C (p.Met172Ile) c.313G>C c.119G>C n.867G>C n.831G>C | |
7 | g.19116806C>T | CA4174469 | TWIST1 | c.516G>A (p.Met172Ile) c.313G>A c.119G>A n.867G>A n.831G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19116807A>C | CA367015266 | TWIST1 | c.515T>G (p.Met172Arg) c.312T>G c.118T>G n.866T>G n.830T>G | |
7 | g.19116807A>G | CA367015267 | TWIST1 | c.515T>C (p.Met172Thr) c.312T>C c.118T>C n.866T>C n.830T>C | |
7 | g.19116807A>T | CA367015268 | TWIST1 | c.515T>A (p.Met172Lys) c.312T>A c.118T>A n.866T>A n.830T>A | |
7 | g.19116808T>A | CA367015269 | TWIST1 | c.514A>T (p.Met172Leu) c.311A>T c.117A>T n.865A>T n.829A>T | |
7 | g.19116808T>C | CA367015271 | TWIST1 | c.514A>G (p.Met172Val) c.311A>G c.117A>G n.865A>G n.829A>G | |
7 | g.19116808T>G | CA367015270 | TWIST1 | c.514A>C (p.Met172Leu) c.311A>C c.117A>C n.865A>C n.829A>C | |
7 | g.19116809C>A | CA367015272 | TWIST1 | c.513G>T (p.Lys171Asn) c.310G>T c.116G>T n.864G>T n.828G>T | |
7 | g.19116809C= | CA1692250293 | TWIST1 | c.513G= (p.Lys171=) c.310G= c.116G= n.864G= n.828G= | |
7 | g.19116809C>G | CA367015273 | TWIST1 | c.513G>C (p.Lys171Asn) c.310G>C c.116G>C n.864G>C n.828G>C | COSMIC |
7 | g.19116809C>T | CA454143427 | TWIST1 | c.513G>A (p.Lys171=) c.310G>A c.116G>A n.864G>A n.828G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19116810T>A | CA367015274 | TWIST1 | c.512A>T (p.Lys171Met) c.309A>T c.115A>T n.863A>T n.827A>T | |
7 | g.19116810T>C | CA4174470 | TWIST1 | c.512A>G (p.Lys171Arg) c.309A>G c.115A>G n.863A>G n.827A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19116810T>G | CA367015275 | TWIST1 | c.512A>C (p.Lys171Thr) c.309A>C c.115A>C n.863A>C n.827A>C | |
7 | g.19116810T= | CA1692250296 | TWIST1 | c.512A= (p.Lys171=) c.309A= c.115A= n.863A= n.827A= | |
7 | g.19116811T>A | CA367015276 | TWIST1 | c.511A>T (p.Lys171Ter) c.308A>T c.114A>T n.862A>T n.826A>T | |
7 | g.19116811T>C | CA367015277 | TWIST1 | c.511A>G (p.Lys171Glu) c.308A>G c.114A>G n.862A>G n.826A>G | |
7 | g.19116811T>G | CA367015278 | TWIST1 | c.511A>C (p.Lys171Gln) c.308A>C c.114A>C n.862A>C n.826A>C | |
7 | g.19116812G>A | CA155466579 | TWIST1 | c.510C>T (p.Ser170=) c.307C>T c.113C>T n.861C>T n.825C>T | dbSNP |
7 | g.19116812G>C | CA454143428 | TWIST1 | c.510C>G (p.Ser170=) c.307C>G c.113C>G n.861C>G n.825C>G | |
7 | g.19116812G= | CA1692250299 | TWIST1 | c.510C= (p.Ser170=) c.307C= c.113C= n.861C= n.825C= | |
7 | g.19116812G>T | CA454143430 | TWIST1 | c.510C>A (p.Ser170=) c.307C>A c.113C>A n.861C>A n.825C>A | |
7 | g.19116813dup | CA915940498 | TWIST1 | c.510dup (p.Lys171GlnfsTer?) c.307dup c.113dup n.861dup n.825dup | ClinVar dbSNP |
7 | g.19116813G>A | CA367015279 | TWIST1 | c.509C>T (p.Ser170Phe) c.306C>T c.112C>T n.860C>T n.824C>T | |
7 | g.19116813G>C | CA367015280 | TWIST1 | c.509C>G (p.Ser170Cys) c.306C>G c.112C>G n.860C>G n.824C>G | COSMIC |
7 | g.19116813G= | CA1692250304 | TWIST1 | c.509C= (p.Ser170=) c.306C= c.112C= n.860C= n.824C= | |
7 | g.19116813G>T | CA155466580 | TWIST1 | c.509C>A (p.Ser170Tyr) c.306C>A c.112C>A n.860C>A n.824C>A | dbSNP |
7 | g.19116814A= | CA1692250311 | TWIST1 | c.508T= (p.Ser170=) c.305T= c.111T= n.859T= n.823T= | |
7 | g.19116814A>C | CA367015281 | TWIST1 | c.508T>G (p.Ser170Ala) c.305T>G c.111T>G n.859T>G n.823T>G | |
7 | g.19116814A>G | CA367015282 | TWIST1 | c.508T>C (p.Ser170Pro) c.305T>C c.111T>C n.859T>C n.823T>C | |
7 | g.19116814A>T | CA155466581 | TWIST1 | c.508T>A (p.Ser170Thr) c.305T>A c.111T>A n.859T>A n.823T>A | ClinVar dbSNP |
7 | g.19116814dup | CA1692250309 | TWIST1 | c.508dup (p.Ser170PhefsTer?) c.305dup c.111dup n.859dup n.823dup | ClinVar dbSNP |
7 | g.19116815G>A | CA454143432 | TWIST1 | c.507C>T (p.Asp169=) c.304C>T c.110C>T n.858C>T n.822C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19116815G>C | CA367015283 | TWIST1 | c.507C>G (p.Asp169Glu) c.304C>G c.110C>G n.858C>G n.822C>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19116815G= | CA1692250317 | TWIST1 | c.507C= (p.Asp169=) c.304C= c.110C= n.858C= n.822C= | |
7 | g.19116815G>T | CA367015284 | TWIST1 | c.507C>A (p.Asp169Glu) c.304C>A c.110C>A n.858C>A n.822C>A | |
7 | g.19116816T>A | CA367015285 | TWIST1 | c.506A>T (p.Asp169Val) c.303A>T c.109A>T n.857A>T n.821A>T | |
7 | g.19116816T>C | CA367015286 | TWIST1 | c.506A>G (p.Asp169Gly) c.303A>G c.109A>G n.857A>G n.821A>G | |
7 | g.19116816T>G | CA367015287 | TWIST1 | c.506A>C (p.Asp169Ala) c.303A>C c.109A>C n.857A>C n.821A>C | |
7 | g.19116817C>A | CA367015288 | TWIST1 | c.505G>T (p.Asp169Tyr) c.302G>T c.108G>T n.856G>T n.820G>T | gnomAD v4 |
7 | g.19116817C>G | CA367015289 | TWIST1 | c.505G>C (p.Asp169His) c.302G>C c.108G>C n.856G>C n.820G>C | |
7 | g.19116817C>T | CA367015290 | TWIST1 | c.505G>A (p.Asp169Asn) c.302G>A c.108G>A n.856G>A n.820G>A | gnomAD v4 |
7 | g.19116818C>A | CA454143434 | TWIST1 | c.504G>T (p.Leu168=) c.301G>T c.107G>T n.855G>T n.819G>T | gnomAD v4 |
7 | g.19116818C>G | CA454143436 | TWIST1 | c.504G>C (p.Leu168=) c.301G>C c.107G>C n.855G>C n.819G>C | |
7 | g.19116818C>T | CA454143437 | TWIST1 | c.504G>A (p.Leu168=) c.301G>A c.107G>A n.855G>A n.819G>A | |
7 | g.19116819A>C | CA367015293 | TWIST1 | c.503T>G (p.Leu168Arg) c.300T>G c.106T>G n.854T>G n.818T>G | ClinVar dbSNP gnomAD v4 |
7 | g.19116819A>G | CA367015292 | TWIST1 | c.503T>C (p.Leu168Pro) c.300T>C c.106T>C n.854T>C n.818T>C | |
7 | g.19116819A>T | CA367015291 | TWIST1 | c.503T>A (p.Leu168Gln) c.300T>A c.106T>A n.854T>A n.818T>A | |
7 | g.19116820G>A | CA454143439 | TWIST1 | c.502C>T (p.Leu168=) c.299C>T c.105C>T n.853C>T n.817C>T | |
7 | g.19116820G>C | CA367015294 | TWIST1 | c.502C>G (p.Leu168Val) c.299C>G c.105C>G n.853C>G n.817C>G | |
7 | g.19116820G= | CA1692250319 | TWIST1 | c.502C= (p.Leu168=) c.299C= c.105C= n.853C= n.817C= | |
7 | g.19116820G>T | CA155466582 | TWIST1 | c.502C>A (p.Leu168Met) c.299C>A c.105C>A n.853C>A n.817C>A | dbSNP |
7 | g.19116821C>A | CA367015295 | TWIST1 | c.501G>T (p.Glu167Asp) c.298G>T c.104G>T n.852G>T n.816G>T | |
7 | g.19116821C>G | CA367015296 | TWIST1 | c.501G>C (p.Glu167Asp) c.298G>C c.104G>C n.852G>C n.816G>C | |
7 | g.19116821C>T | CA454143440 | TWIST1 | c.501G>A (p.Glu167=) c.298G>A c.104G>A n.852G>A n.816G>A | |
7 | g.19116822T>A | CA367015297 | TWIST1 | c.500A>T (p.Glu167Val) c.297A>T c.103A>T n.851A>T n.815A>T | |
7 | g.19116822T>C | CA367015298 | TWIST1 | c.500A>G (p.Glu167Gly) c.297A>G c.103A>G n.851A>G n.815A>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19116822T>G | CA367015299 | TWIST1 | c.500A>C (p.Glu167Ala) c.297A>C c.103A>C n.851A>C n.815A>C | |
7 | g.19116822T= | CA1692250325 | TWIST1 | c.500A= (p.Glu167=) c.297A= c.103A= n.851A= n.815A= | |
7 | g.19116823C>A | CA367015300 | TWIST1 | c.499G>T (p.Glu167Ter) c.296G>T c.102G>T n.850G>T n.814G>T | dbSNP |
7 | g.19116823C= | CA1692250327 | TWIST1 | c.499G= (p.Glu167=) c.296G= c.102G= n.850G= n.814G= | |
7 | g.19116823C>G | CA367015301 | TWIST1 | c.499G>C (p.Glu167Gln) c.296G>C c.102G>C n.850G>C n.814G>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19116823C>T | CA367015302 | TWIST1 | c.499G>A (p.Glu167Lys) c.296G>A c.102G>A n.850G>A n.814G>A | dbSNP gnomAD v2 |
7 | g.19116824G>A | CA4174471 | TWIST1 | c.498C>T (p.Asp166=) c.295C>T c.101C>T n.849C>T n.813C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19116824G>C | CA367015303 | TWIST1 | c.498C>G (p.Asp166Glu) c.295C>G c.101C>G n.849C>G n.813C>G | dbSNP |
7 | g.19116824G= | CA1692250331 | TWIST1 | c.498C= (p.Asp166=) c.295C= c.101C= n.849C= n.813C= | |
7 | g.19116824G>T | CA367015304 | TWIST1 | c.498C>A (p.Asp166Glu) c.295C>A c.101C>A n.849C>A n.813C>A | |
7 | g.19116825T>A | CA367015306 | TWIST1 | c.497A>T (p.Asp166Val) c.294A>T c.100A>T n.848A>T n.812A>T | |
7 | g.19116825T>C | CA367015307 | TWIST1 | c.497A>G (p.Asp166Gly) c.294A>G c.100A>G n.848A>G n.812A>G | |
7 | g.19116825T>G | CA367015305 | TWIST1 | c.497A>C (p.Asp166Ala) c.294A>C c.100A>C n.848A>C n.812A>C | |
7 | g.19116826C>A | CA367015309 | TWIST1 | c.496G>T (p.Asp166Tyr) c.293G>T c.99G>T n.847G>T n.811G>T | |
7 | g.19116826C= | CA1692250334 | TWIST1 | c.496G= (p.Asp166=) c.293G= c.99G= n.847G= n.811G= | |
7 | g.19116826C>G | CA367015308 | TWIST1 | c.496G>C (p.Asp166His) c.293G>C c.99G>C n.847G>C n.811G>C | |
7 | g.19116826C>T | CA4174472 | TWIST1 | c.496G>A (p.Asp166Asn) c.293G>A c.99G>A n.847G>A n.811G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.19116827G>A | CA454143444 | TWIST1 | c.495C>T (p.Ser165=) c.292C>T c.98C>T n.846C>T n.810C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19116827G>C | CA367015310 | TWIST1 | c.495C>G (p.Ser165Arg) c.292C>G c.98C>G n.846C>G n.810C>G | |
7 | g.19116827G= | CA1692250336 | TWIST1 | c.495C= (p.Ser165=) c.292C= c.98C= n.846C= n.810C= | |
7 | g.19116827G>T | CA367015311 | TWIST1 | c.495C>A (p.Ser165Arg) c.292C>A c.98C>A n.846C>A n.810C>A | gnomAD v4 COSMIC |
7 | g.19116828C>A | CA367015312 | TWIST1 | c.494G>T (p.Ser165Ile) c.291G>T c.97G>T n.845G>T n.809G>T | |
7 | g.19116828C= | CA1692250339 | TWIST1 | c.494G= (p.Ser165=) c.291G= c.97G= n.845G= n.809G= | |
7 | g.19116828C>G | CA367015313 | TWIST1 | c.494G>C (p.Ser165Thr) c.291G>C c.97G>C n.845G>C n.809G>C | COSMIC |
7 | g.19116828C>T | CA4174473 | TWIST1 | c.494G>A (p.Ser165Asn) c.291G>A c.97G>A n.845G>A n.809G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.19116829T>A | CA367015314 | TWIST1 | c.493A>T (p.Ser165Cys) c.290A>T c.96A>T n.844A>T n.808A>T | |
7 | g.19116829T>C | CA367015315 | TWIST1 | c.493A>G (p.Ser165Gly) c.290A>G c.96A>G n.844A>G n.808A>G | |
7 | g.19116829T>G | CA367015316 | TWIST1 | c.493A>C (p.Ser165Arg) c.290A>C c.96A>C n.844A>C n.808A>C | |
7 | g.19116830C>A | CA367015317 | TWIST1 | c.492G>T (p.Gln164His) c.289G>T c.95G>T n.843G>T n.807G>T | |
7 | g.19116830C>G | CA367015318 | TWIST1 | c.492G>C (p.Gln164His) c.289G>C c.95G>C n.843G>C n.807G>C | |
7 | g.19116830C>T | CA454143447 | TWIST1 | c.492G>A (p.Gln164=) c.289G>A c.95G>A n.843G>A n.807G>A | |
7 | g.19116831T>A | CA367015321 | TWIST1 | c.491A>T (p.Gln164Leu) c.288A>T c.94A>T n.842A>T n.806A>T | |
7 | g.19116831T>C | CA367015319 | TWIST1 | c.491A>G (p.Gln164Arg) c.288A>G c.94A>G n.842A>G n.806A>G | |
7 | g.19116831T>G | CA367015320 | TWIST1 | c.491A>C (p.Gln164Pro) c.288A>C c.94A>C n.842A>C n.806A>C | |
7 | g.19116832G>A | CA367015322 | TWIST1 | c.490C>T (p.Gln164Ter) c.287C>T c.93C>T n.841C>T n.805C>T | |
7 | g.19116832G>C | CA367015323 | TWIST1 | c.490C>G (p.Gln164Glu) c.287C>G c.93C>G n.841C>G n.805C>G | |
7 | g.19116832G>T | CA367015324 | TWIST1 | c.490C>A (p.Gln164Lys) c.287C>A c.93C>A n.841C>A n.805C>A | |
7 | g.19116833G>A | CA454143449 | TWIST1 | c.489C>T (p.Leu163=) c.286C>T c.92C>T n.840C>T n.804C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19116833G>C | CA4174474 | TWIST1 | c.489C>G (p.Leu163=) c.286C>G c.92C>G n.840C>G n.804C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.19116833G= | CA1692250343 | TWIST1 | c.489C= (p.Leu163=) c.286C= c.92C= n.840C= n.804C= | |
7 | g.19116833G>T | CA454143451 | TWIST1 | c.489C>A (p.Leu163=) c.286C>A c.92C>A n.840C>A n.804C>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19116834A>C | CA367015325 | TWIST1 | c.488T>G (p.Leu163Arg) c.285T>G c.91T>G n.839T>G n.803T>G | |
7 | g.19116834A>G | CA367015326 | TWIST1 | c.488T>C (p.Leu163Pro) c.285T>C c.91T>C n.839T>C n.803T>C | ClinVar |
7 | g.19116834A>T | CA367015327 | TWIST1 | c.488T>A (p.Leu163His) c.285T>A c.91T>A n.839T>A n.803T>A | |
7 | g.19116834_19116837del | CA2695207464 | TWIST1 | c.485_488del (p.Val162AlafsTer?) c.282_285del c.88_91del n.836_839del n.800_803del | |
7 | g.19116834_19116840del | CA2695207463 | TWIST1 | c.482_488del (p.Gln161ProfsTer?) c.279_285del c.85_91del n.833_839del n.797_803del | |
7 | g.19116835G>A | CA155466583 | TWIST1 | c.487C>T (p.Leu163Phe) c.284C>T c.90C>T n.838C>T n.802C>T | ClinVar dbSNP gnomAD v4 |
7 | g.19116835G>C | CA367015328 | TWIST1 | c.487C>G (p.Leu163Val) c.284C>G c.90C>G n.838C>G n.802C>G | |
7 | g.19116835G= | CA1692250348 | TWIST1 | c.487C= (p.Leu163=) c.284C= c.90C= n.838C= n.802C= | |
7 | g.19116835G>T | CA367015329 | TWIST1 | c.487C>A (p.Leu163Ile) c.284C>A c.90C>A n.838C>A n.802C>A | |
7 | g.19116836del | CA2695207465 | TWIST1 | c.487del (p.Leu163SerfsTer?) c.284del c.90del n.838del n.802del | |
7 | g.19116836G>A | CA4174475 | TWIST1 | c.486C>T (p.Val162=) c.283C>T c.89C>T n.837C>T n.801C>T | dbSNP ExAC gnomAD v4 |
7 | g.19116836G>C | CA454143453 | TWIST1 | c.486C>G (p.Val162=) c.283C>G c.89C>G n.837C>G n.801C>G | |
7 | g.19116836G= | CA1692250350 | TWIST1 | c.486C= (p.Val162=) c.283C= c.89C= n.837C= n.801C= | |
7 | g.19116836G>T | CA454143454 | TWIST1 | c.486C>A (p.Val162=) c.283C>A c.89C>A n.837C>A n.801C>A |