| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.42148230G>A | CA4231238 | GLI3 | c.363C>T (p.His121=) c.186C>T (p.His62=) n.340C>T c.360C>T (p.His120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42148230G>C | CA367550173 | GLI3 | c.363C>G (p.His121Gln) c.186C>G (p.His62Gln) n.340C>G c.360C>G (p.His120Gln) | |
| 7 | g.42148230G= | CA1702731826 | GLI3 | c.363C= (p.His121=) c.186C= (p.His62=) n.340C= c.360C= (p.His120=) | |
| 7 | g.42148230G>T | CA367550172 | GLI3 | c.363C>A (p.His121Gln) c.186C>A (p.His62Gln) n.340C>A c.360C>A (p.His120Gln) | |
| 7 | g.42148231T>A | CA367550174 | GLI3 | c.362A>T (p.His121Leu) c.185A>T (p.His62Leu) n.339A>T c.359A>T (p.His120Leu) | dbSNP gnomAD v4 |
| 7 | g.42148231T>C | CA367550175 | GLI3 | c.362A>G (p.His121Arg) c.185A>G (p.His62Arg) n.339A>G c.359A>G (p.His120Arg) | gnomAD v4 |
| 7 | g.42148231T>G | CA4231239 | GLI3 | c.362A>C (p.His121Pro) c.185A>C (p.His62Pro) n.339A>C c.359A>C (p.His120Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42148231T= | CA1702731830 | GLI3 | c.362A= (p.His121=) c.185A= (p.His62=) n.339A= c.359A= (p.His120=) | |
| 7 | g.42148232G>A | CA367550176 | GLI3 | c.361C>T (p.His121Tyr) c.184C>T (p.His62Tyr) n.338C>T c.358C>T (p.His120Tyr) | |
| 7 | g.42148232G>C | CA367550177 | GLI3 | c.361C>G (p.His121Asp) c.184C>G (p.His62Asp) n.338C>G c.358C>G (p.His120Asp) | |
| 7 | g.42148232G>T | CA367550178 | GLI3 | c.361C>A (p.His121Asn) c.184C>A (p.His62Asn) n.338C>A c.358C>A (p.His120Asn) | |
| 7 | g.42148233G>A | CA454866744 | GLI3 | c.360C>T (p.Pro120=) c.183C>T (p.Pro61=) n.337C>T c.357C>T (p.Pro119=) | |
| 7 | g.42148233G>C | CA454866745 | GLI3 | c.360C>G (p.Pro120=) c.183C>G (p.Pro61=) n.337C>G c.357C>G (p.Pro119=) | |
| 7 | g.42148233G>T | CA454866746 | GLI3 | c.360C>A (p.Pro120=) c.183C>A (p.Pro61=) n.337C>A c.357C>A (p.Pro119=) | COSMIC |
| 7 | g.42148234G>A | CA367550179 | GLI3 | c.359C>T (p.Pro120Leu) c.182C>T (p.Pro61Leu) n.336C>T c.356C>T (p.Pro119Leu) | |
| 7 | g.42148234G>C | CA367550180 | GLI3 | c.359C>G (p.Pro120Arg) c.182C>G (p.Pro61Arg) n.336C>G c.356C>G (p.Pro119Arg) | |
| 7 | g.42148234G>T | CA367550181 | GLI3 | c.359C>A (p.Pro120His) c.182C>A (p.Pro61His) n.336C>A c.356C>A (p.Pro119His) | |
| 7 | g.42148235G>A | CA367550182 | GLI3 | c.358C>T (p.Pro120Ser) c.181C>T (p.Pro61Ser) n.335C>T c.355C>T (p.Pro119Ser) | |
| 7 | g.42148235G>C | CA367550183 | GLI3 | c.358C>G (p.Pro120Ala) c.181C>G (p.Pro61Ala) n.335C>G c.355C>G (p.Pro119Ala) | |
| 7 | g.42148235G>T | CA367550184 | GLI3 | c.358C>A (p.Pro120Thr) c.181C>A (p.Pro61Thr) n.335C>A c.355C>A (p.Pro119Thr) | gnomAD v4 |
| 7 | g.42148236C>A | CA367550186 | GLI3 | c.357G>T (p.Glu119Asp) c.180G>T (p.Glu60Asp) n.334G>T c.354G>T (p.Glu118Asp) | |
| 7 | g.42148236C>G | CA367550185 | GLI3 | c.357G>C (p.Glu119Asp) c.180G>C (p.Glu60Asp) n.334G>C c.354G>C (p.Glu118Asp) | |
| 7 | g.42148236C>T | CA454866755 | GLI3 | c.357G>A (p.Glu119=) c.180G>A (p.Glu60=) n.334G>A c.354G>A (p.Glu118=) | |
| 7 | g.42148237T>A | CA367550187 | GLI3 | c.356A>T (p.Glu119Val) c.179A>T (p.Glu60Val) n.333A>T c.353A>T (p.Glu118Val) | |
| 7 | g.42148237T>C | CA367550189 | GLI3 | c.356A>G (p.Glu119Gly) c.179A>G (p.Glu60Gly) n.333A>G c.353A>G (p.Glu118Gly) | |
| 7 | g.42148237T>G | CA367550188 | GLI3 | c.356A>C (p.Glu119Ala) c.179A>C (p.Glu60Ala) n.333A>C c.353A>C (p.Glu118Ala) | |
| 7 | g.42148238C>A | CA367550190 | GLI3 | c.355G>T (p.Glu119Ter) c.178G>T (p.Glu60Ter) n.332G>T c.352G>T (p.Glu118Ter) | |
| 7 | g.42148238C>G | CA367550191 | GLI3 | c.355G>C (p.Glu119Gln) c.178G>C (p.Glu60Gln) n.332G>C c.352G>C (p.Glu118Gln) | |
| 7 | g.42148238C>T | CA367550192 | GLI3 | c.355G>A (p.Glu119Lys) c.178G>A (p.Glu60Lys) n.332G>A c.352G>A (p.Glu118Lys) | gnomAD v4 |
| 7 | g.42148239C>A | CA367550193 | GLI3 | c.354G>T (p.Met118Ile) c.177G>T (p.Met59Ile) n.331G>T c.351G>T (p.Met117Ile) | |
| 7 | g.42148239C>G | CA367550194 | GLI3 | c.354G>C (p.Met118Ile) c.177G>C (p.Met59Ile) n.331G>C c.351G>C (p.Met117Ile) | |
| 7 | g.42148239C>T | CA367550195 | GLI3 | c.354G>A (p.Met118Ile) c.177G>A (p.Met59Ile) n.331G>A c.351G>A (p.Met117Ile) | gnomAD v4 |
| 7 | g.42148240A= | CA1702731839 | GLI3 | c.353T= (p.Met118=) c.176T= (p.Met59=) n.330T= c.350T= (p.Met117=) | |
| 7 | g.42148240A>C | CA367550196 | GLI3 | c.353T>G (p.Met118Arg) c.176T>G (p.Met59Arg) n.330T>G c.350T>G (p.Met117Arg) | gnomAD v4 |
| 7 | g.42148240A>G | CA10629210 | GLI3 | c.353T>C (p.Met118Thr) c.176T>C (p.Met59Thr) n.330T>C c.350T>C (p.Met117Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.42148240A>T | CA367550197 | GLI3 | c.353T>A (p.Met118Lys) c.176T>A (p.Met59Lys) n.330T>A c.350T>A (p.Met117Lys) | |
| 7 | g.42148241T>A | CA367550198 | GLI3 | c.352A>T (p.Met118Leu) c.175A>T (p.Met59Leu) n.329A>T c.349A>T (p.Met117Leu) | dbSNP |
| 7 | g.42148241T>C | CA157278280 | GLI3 | c.352A>G (p.Met118Val) c.175A>G (p.Met59Val) n.329A>G c.349A>G (p.Met117Val) | dbSNP gnomAD v4 |
| 7 | g.42148241T>G | CA367550199 | GLI3 | c.352A>C (p.Met118Leu) c.175A>C (p.Met59Leu) n.329A>C c.349A>C (p.Met117Leu) | |
| 7 | g.42148241T= | CA1702731844 | GLI3 | c.352A= (p.Met118=) c.175A= (p.Met59=) n.329A= c.349A= (p.Met117=) | |
| 7 | g.42148242G>A | CA454866769 | GLI3 | c.351C>T (p.Tyr117=) c.174C>T (p.Tyr58=) n.328C>T c.348C>T (p.Tyr116=) | |
| 7 | g.42148242G>C | CA367550201 | GLI3 | c.351C>G (p.Tyr117Ter) c.174C>G (p.Tyr58Ter) n.328C>G c.348C>G (p.Tyr116Ter) | |
| 7 | g.42148242G>T | CA367550200 | GLI3 | c.351C>A (p.Tyr117Ter) c.174C>A (p.Tyr58Ter) n.328C>A c.348C>A (p.Tyr116Ter) | |
| 7 | g.42148243T>A | CA367550202 | GLI3 | c.350A>T (p.Tyr117Phe) c.173A>T (p.Tyr58Phe) n.327A>T c.347A>T (p.Tyr116Phe) | |
| 7 | g.42148243T>C | CA367550203 | GLI3 | c.350A>G (p.Tyr117Cys) c.173A>G (p.Tyr58Cys) n.327A>G c.347A>G (p.Tyr116Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42148243T>G | CA367550204 | GLI3 | c.350A>C (p.Tyr117Ser) c.173A>C (p.Tyr58Ser) n.327A>C c.347A>C (p.Tyr116Ser) | |
| 7 | g.42148243T= | CA1702731846 | GLI3 | c.350A= (p.Tyr117=) c.173A= (p.Tyr58=) n.327A= c.347A= (p.Tyr116=) | |
| 7 | g.42148244A>C | CA367550205 | GLI3 | c.349T>G (p.Tyr117Asp) c.172T>G (p.Tyr58Asp) n.326T>G c.346T>G (p.Tyr116Asp) | |
| 7 | g.42148244A>G | CA367550206 | GLI3 | c.349T>C (p.Tyr117His) c.172T>C (p.Tyr58His) n.326T>C c.346T>C (p.Tyr116His) | |
| 7 | g.42148244A>T | CA367550207 | GLI3 | c.349T>A (p.Tyr117Asn) c.172T>A (p.Tyr58Asn) n.326T>A c.346T>A (p.Tyr116Asn) |