| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41966174C>A | CA367320027 | GLI3 | c.2899G>T (p.Gly967Cys) c.2725G>T (p.Gly909Cys) n.2876G>T c.2722G>T (p.Gly908Cys) c.2896G>T (p.Gly966Cys) | gnomAD v4 |
| 7 | g.41966174C>G | CA367320028 | GLI3 | c.2899G>C (p.Gly967Arg) c.2725G>C (p.Gly909Arg) n.2876G>C c.2722G>C (p.Gly908Arg) c.2896G>C (p.Gly966Arg) | |
| 7 | g.41966174C>T | CA367320030 | GLI3 | c.2899G>A (p.Gly967Ser) c.2725G>A (p.Gly909Ser) n.2876G>A c.2722G>A (p.Gly908Ser) c.2896G>A (p.Gly966Ser) | gnomAD v4 |
| 7 | g.41966175del | CA2499393374 | GLI3 | c.2898del (p.Gly967AlafsTer?) c.2724del (p.Gly909AlafsTer?) n.2875del c.2721del (p.Gly908AlafsTer?) c.2895del (p.Gly966AlafsTer?) | |
| 7 | g.41966175A>C | CA454662160 | GLI3 | c.2898T>G (p.Pro966=) c.2724T>G (p.Pro908=) n.2875T>G c.2721T>G (p.Pro907=) c.2895T>G (p.Pro965=) | |
| 7 | g.41966175A>G | CA454662161 | GLI3 | c.2898T>C (p.Pro966=) c.2724T>C (p.Pro908=) n.2875T>C c.2721T>C (p.Pro907=) c.2895T>C (p.Pro965=) | gnomAD v4 |
| 7 | g.41966175A>T | CA454662162 | GLI3 | c.2898T>A (p.Pro966=) c.2724T>A (p.Pro908=) n.2875T>A c.2721T>A (p.Pro907=) c.2895T>A (p.Pro965=) | |
| 7 | g.41966176G>A | CA367320034 | GLI3 | c.2897C>T (p.Pro966Leu) c.2723C>T (p.Pro908Leu) n.2874C>T c.2720C>T (p.Pro907Leu) c.2894C>T (p.Pro965Leu) | gnomAD v4 |
| 7 | g.41966176G>C | CA367320036 | GLI3 | c.2897C>G (p.Pro966Arg) c.2723C>G (p.Pro908Arg) n.2874C>G c.2720C>G (p.Pro907Arg) c.2894C>G (p.Pro965Arg) | gnomAD v4 |
| 7 | g.41966176G>T | CA367320038 | GLI3 | c.2897C>A (p.Pro966His) c.2723C>A (p.Pro908His) n.2874C>A c.2720C>A (p.Pro907His) c.2894C>A (p.Pro965His) | gnomAD v4 |
| 7 | g.41966177G>A | CA367320040 | GLI3 | c.2896C>T (p.Pro966Ser) c.2722C>T (p.Pro908Ser) n.2873C>T c.2719C>T (p.Pro907Ser) c.2893C>T (p.Pro965Ser) | |
| 7 | g.41966177G>C | CA367320042 | GLI3 | c.2896C>G (p.Pro966Ala) c.2722C>G (p.Pro908Ala) n.2873C>G c.2719C>G (p.Pro907Ala) c.2893C>G (p.Pro965Ala) | |
| 7 | g.41966177G= | CA1702661151 | GLI3 | c.2896C= (p.Pro966=) c.2722C= (p.Pro908=) n.2873C= c.2719C= (p.Pro907=) c.2893C= (p.Pro965=) | |
| 7 | g.41966177G>T | CA367320044 | GLI3 | c.2896C>A (p.Pro966Thr) c.2722C>A (p.Pro908Thr) n.2873C>A c.2719C>A (p.Pro907Thr) c.2893C>A (p.Pro965Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966178C>A | CA367320047 | GLI3 | c.2895G>T (p.Glu965Asp) c.2721G>T (p.Glu907Asp) n.2872G>T c.2718G>T (p.Glu906Asp) c.2892G>T (p.Glu964Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966178C= | CA1702661152 | GLI3 | c.2895G= (p.Glu965=) c.2721G= (p.Glu907=) n.2872G= c.2718G= (p.Glu906=) c.2892G= (p.Glu964=) | |
| 7 | g.41966178C>G | CA367320048 | GLI3 | c.2895G>C (p.Glu965Asp) c.2721G>C (p.Glu907Asp) n.2872G>C c.2718G>C (p.Glu906Asp) c.2892G>C (p.Glu964Asp) | |
| 7 | g.41966178C>T | CA454662165 | GLI3 | c.2895G>A (p.Glu965=) c.2721G>A (p.Glu907=) n.2872G>A c.2718G>A (p.Glu906=) c.2892G>A (p.Glu964=) | gnomAD v4 |
| 7 | g.41966179T>A | CA367320056 | GLI3 | c.2894A>T (p.Glu965Val) c.2720A>T (p.Glu907Val) n.2871A>T c.2717A>T (p.Glu906Val) c.2891A>T (p.Glu964Val) | |
| 7 | g.41966179T>C | CA367320054 | GLI3 | c.2894A>G (p.Glu965Gly) c.2720A>G (p.Glu907Gly) n.2871A>G c.2717A>G (p.Glu906Gly) c.2891A>G (p.Glu964Gly) | gnomAD v4 |
| 7 | g.41966179T>G | CA367320052 | GLI3 | c.2894A>C (p.Glu965Ala) c.2720A>C (p.Glu907Ala) n.2871A>C c.2717A>C (p.Glu906Ala) c.2891A>C (p.Glu964Ala) | |
| 7 | g.41966180C>A | CA367320059 | GLI3 | c.2893G>T (p.Glu965Ter) c.2719G>T (p.Glu907Ter) n.2870G>T c.2716G>T (p.Glu906Ter) c.2890G>T (p.Glu964Ter) | gnomAD v4 |
| 7 | g.41966180C= | CA1702661153 | GLI3 | c.2893G= (p.Glu965=) c.2719G= (p.Glu907=) n.2870G= c.2716G= (p.Glu906=) c.2890G= (p.Glu964=) | |
| 7 | g.41966180C>G | CA367320061 | GLI3 | c.2893G>C (p.Glu965Gln) c.2719G>C (p.Glu907Gln) n.2870G>C c.2716G>C (p.Glu906Gln) c.2890G>C (p.Glu964Gln) | gnomAD v4 |
| 7 | g.41966180C>T | CA367320063 | GLI3 | c.2893G>A (p.Glu965Lys) c.2719G>A (p.Glu907Lys) n.2870G>A c.2716G>A (p.Glu906Lys) c.2890G>A (p.Glu964Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966181G>A | CA156905082 | GLI3 | c.2892C>T (p.Leu964=) c.2718C>T (p.Leu906=) n.2869C>T c.2715C>T (p.Leu905=) c.2889C>T (p.Leu963=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966181G>C | CA454662167 | GLI3 | c.2892C>G (p.Leu964=) c.2718C>G (p.Leu906=) n.2869C>G c.2715C>G (p.Leu905=) c.2889C>G (p.Leu963=) | gnomAD v4 |
| 7 | g.41966181G= | CA1702661154 | GLI3 | c.2892C= (p.Leu964=) c.2718C= (p.Leu906=) n.2869C= c.2715C= (p.Leu905=) c.2889C= (p.Leu963=) | |
| 7 | g.41966181G>T | CA454662170 | GLI3 | c.2892C>A (p.Leu964=) c.2718C>A (p.Leu906=) n.2869C>A c.2715C>A (p.Leu905=) c.2889C>A (p.Leu963=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966182del | CA2682510162 | GLI3 | c.2891del (p.Leu964ProfsTer?) c.2717del (p.Leu906ProfsTer?) n.2868del c.2714del (p.Leu905ProfsTer?) c.2888del (p.Leu963ProfsTer?) | gnomAD v4 |
| 7 | g.41966182A= | CA1702661155 | GLI3 | c.2891T= (p.Leu964=) c.2717T= (p.Leu906=) n.2868T= c.2714T= (p.Leu905=) c.2888T= (p.Leu963=) | |
| 7 | g.41966182A>C | CA367320067 | GLI3 | c.2891T>G (p.Leu964Arg) c.2717T>G (p.Leu906Arg) n.2868T>G c.2714T>G (p.Leu905Arg) c.2888T>G (p.Leu963Arg) | |
| 7 | g.41966182A>G | CA367320068 | GLI3 | c.2891T>C (p.Leu964Pro) c.2717T>C (p.Leu906Pro) n.2868T>C c.2714T>C (p.Leu905Pro) c.2888T>C (p.Leu963Pro) | dbSNP |
| 7 | g.41966182A>T | CA367320070 | GLI3 | c.2891T>A (p.Leu964His) c.2717T>A (p.Leu906His) n.2868T>A c.2714T>A (p.Leu905His) c.2888T>A (p.Leu963His) | |
| 7 | g.41966183G>A | CA367320072 | GLI3 | c.2890C>T (p.Leu964Phe) c.2716C>T (p.Leu906Phe) n.2867C>T c.2713C>T (p.Leu905Phe) c.2887C>T (p.Leu963Phe) | |
| 7 | g.41966183G>C | CA367320074 | GLI3 | c.2890C>G (p.Leu964Val) c.2716C>G (p.Leu906Val) n.2867C>G c.2713C>G (p.Leu905Val) c.2887C>G (p.Leu963Val) | |
| 7 | g.41966183G>T | CA367320076 | GLI3 | c.2890C>A (p.Leu964Ile) c.2716C>A (p.Leu906Ile) n.2867C>A c.2713C>A (p.Leu905Ile) c.2887C>A (p.Leu963Ile) | gnomAD v4 |
| 7 | g.41966185del | CA2682510163 | GLI3 | c.2890del (p.Leu964SerfsTer?) c.2716del (p.Leu906SerfsTer?) n.2867del c.2713del (p.Leu905SerfsTer?) c.2887del (p.Leu963SerfsTer?) | gnomAD v4 |
| 7 | g.41966184G>A | CA454662172 | GLI3 | c.2889C>T (p.Ala963=) c.2715C>T (p.Ala905=) n.2866C>T c.2712C>T (p.Ala904=) c.2886C>T (p.Ala962=) | dbSNP gnomAD v2 COSMIC |
| 7 | g.41966184G>C | CA4230503 | GLI3 | c.2889C>G (p.Ala963=) c.2715C>G (p.Ala905=) n.2866C>G c.2712C>G (p.Ala904=) c.2886C>G (p.Ala962=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966184G= | CA1702661156 | GLI3 | c.2889C= (p.Ala963=) c.2715C= (p.Ala905=) n.2866C= c.2712C= (p.Ala904=) c.2886C= (p.Ala962=) | |
| 7 | g.41966184G>T | CA454662175 | GLI3 | c.2889C>A (p.Ala963=) c.2715C>A (p.Ala905=) n.2866C>A c.2712C>A (p.Ala904=) c.2886C>A (p.Ala962=) | gnomAD v4 |
| 7 | g.41966185G>A | CA4230504 | GLI3 | c.2888C>T (p.Ala963Val) c.2714C>T (p.Ala905Val) n.2865C>T c.2711C>T (p.Ala904Val) c.2885C>T (p.Ala962Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966185G>C | CA367320081 | GLI3 | c.2888C>G (p.Ala963Gly) c.2714C>G (p.Ala905Gly) n.2865C>G c.2711C>G (p.Ala904Gly) c.2885C>G (p.Ala962Gly) | |
| 7 | g.41966185G= | CA1702661157 | GLI3 | c.2888C= (p.Ala963=) c.2714C= (p.Ala905=) n.2865C= c.2711C= (p.Ala904=) c.2885C= (p.Ala962=) | |
| 7 | g.41966185G>T | CA367320082 | GLI3 | c.2888C>A (p.Ala963Asp) c.2714C>A (p.Ala905Asp) n.2865C>A c.2711C>A (p.Ala904Asp) c.2885C>A (p.Ala962Asp) | gnomAD v4 |
| 7 | g.41966186C>A | CA367320090 | GLI3 | c.2887G>T (p.Ala963Ser) c.2713G>T (p.Ala905Ser) n.2864G>T c.2710G>T (p.Ala904Ser) c.2884G>T (p.Ala962Ser) | gnomAD v4 |
| 7 | g.41966186C= | CA1702661158 | GLI3 | c.2887G= (p.Ala963=) c.2713G= (p.Ala905=) n.2864G= c.2710G= (p.Ala904=) c.2884G= (p.Ala962=) | |
| 7 | g.41966186C>G | CA367320085 | GLI3 | c.2887G>C (p.Ala963Pro) c.2713G>C (p.Ala905Pro) n.2864G>C c.2710G>C (p.Ala904Pro) c.2884G>C (p.Ala962Pro) | |
| 7 | g.41966186C>T | CA4230505 | GLI3 | c.2887G>A (p.Ala963Thr) c.2713G>A (p.Ala905Thr) n.2864G>A c.2710G>A (p.Ala904Thr) c.2884G>A (p.Ala962Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |