| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41965798A= | CA1702660944 | GLI3 | c.3275T= (p.Leu1092=) c.3101T= (p.Leu1034=) n.3252T= c.3098T= (p.Leu1033=) c.3272T= (p.Leu1091=) | |
| 7 | g.41965798A>C | CA367318764 | GLI3 | c.3275T>G (p.Leu1092Arg) c.3101T>G (p.Leu1034Arg) n.3252T>G c.3098T>G (p.Leu1033Arg) c.3272T>G (p.Leu1091Arg) | |
| 7 | g.41965798A>G | CA367318765 | GLI3 | c.3275T>C (p.Leu1092Pro) c.3101T>C (p.Leu1034Pro) n.3252T>C c.3098T>C (p.Leu1033Pro) c.3272T>C (p.Leu1091Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965798A>T | CA367318766 | GLI3 | c.3275T>A (p.Leu1092Gln) c.3101T>A (p.Leu1034Gln) n.3252T>A c.3098T>A (p.Leu1033Gln) c.3272T>A (p.Leu1091Gln) | |
| 7 | g.41965799G>A | CA454662538 | GLI3 | c.3274C>T (p.Leu1092=) c.3100C>T (p.Leu1034=) n.3251C>T c.3097C>T (p.Leu1033=) c.3271C>T (p.Leu1091=) | gnomAD v4 |
| 7 | g.41965799G>C | CA367318768 | GLI3 | c.3274C>G (p.Leu1092Val) c.3100C>G (p.Leu1034Val) n.3251C>G c.3097C>G (p.Leu1033Val) c.3271C>G (p.Leu1091Val) | |
| 7 | g.41965799G>T | CA367318769 | GLI3 | c.3274C>A (p.Leu1092Met) c.3100C>A (p.Leu1034Met) n.3251C>A c.3097C>A (p.Leu1033Met) c.3271C>A (p.Leu1091Met) | |
| 7 | g.41965800G>A | CA454662539 | GLI3 | c.3273C>T (p.Phe1091=) c.3099C>T (p.Phe1033=) n.3250C>T c.3096C>T (p.Phe1032=) c.3270C>T (p.Phe1090=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965800G>C | CA367318772 | GLI3 | c.3273C>G (p.Phe1091Leu) c.3099C>G (p.Phe1033Leu) n.3250C>G c.3096C>G (p.Phe1032Leu) c.3270C>G (p.Phe1090Leu) | |
| 7 | g.41965800G= | CA1702660945 | GLI3 | c.3273C= (p.Phe1091=) c.3099C= (p.Phe1033=) n.3250C= c.3096C= (p.Phe1032=) c.3270C= (p.Phe1090=) | |
| 7 | g.41965800G>T | CA367318774 | GLI3 | c.3273C>A (p.Phe1091Leu) c.3099C>A (p.Phe1033Leu) n.3250C>A c.3096C>A (p.Phe1032Leu) c.3270C>A (p.Phe1090Leu) | |
| 7 | g.41965801A>C | CA367318777 | GLI3 | c.3272T>G (p.Phe1091Cys) c.3098T>G (p.Phe1033Cys) n.3249T>G c.3095T>G (p.Phe1032Cys) c.3269T>G (p.Phe1090Cys) | |
| 7 | g.41965801A>G | CA367318779 | GLI3 | c.3272T>C (p.Phe1091Ser) c.3098T>C (p.Phe1033Ser) n.3249T>C c.3095T>C (p.Phe1032Ser) c.3269T>C (p.Phe1090Ser) | |
| 7 | g.41965801A>T | CA367318782 | GLI3 | c.3272T>A (p.Phe1091Tyr) c.3098T>A (p.Phe1033Tyr) n.3249T>A c.3095T>A (p.Phe1032Tyr) c.3269T>A (p.Phe1090Tyr) | |
| 7 | g.41965802A= | CA1702660946 | GLI3 | c.3271T= (p.Phe1091=) c.3097T= (p.Phe1033=) n.3248T= c.3094T= (p.Phe1032=) c.3268T= (p.Phe1090=) | |
| 7 | g.41965802A>C | CA367318785 | GLI3 | c.3271T>G (p.Phe1091Val) c.3097T>G (p.Phe1033Val) n.3248T>G c.3094T>G (p.Phe1032Val) c.3268T>G (p.Phe1090Val) | |
| 7 | g.41965802A>G | CA4230410 | GLI3 | c.3271T>C (p.Phe1091Leu) c.3097T>C (p.Phe1033Leu) n.3248T>C c.3094T>C (p.Phe1032Leu) c.3268T>C (p.Phe1090Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965802A>T | CA367318789 | GLI3 | c.3271T>A (p.Phe1091Ile) c.3097T>A (p.Phe1033Ile) n.3248T>A c.3094T>A (p.Phe1032Ile) c.3268T>A (p.Phe1090Ile) | |
| 7 | g.41965803A>C | CA367318790 | GLI3 | c.3270T>G (p.Asp1090Glu) c.3096T>G (p.Asp1032Glu) n.3247T>G c.3093T>G (p.Asp1031Glu) c.3267T>G (p.Asp1089Glu) | |
| 7 | g.41965803A>G | CA454662547 | GLI3 | c.3270T>C (p.Asp1090=) c.3096T>C (p.Asp1032=) n.3247T>C c.3093T>C (p.Asp1031=) c.3267T>C (p.Asp1089=) | |
| 7 | g.41965803A>T | CA367318793 | GLI3 | c.3270T>A (p.Asp1090Glu) c.3096T>A (p.Asp1032Glu) n.3247T>A c.3093T>A (p.Asp1031Glu) c.3267T>A (p.Asp1089Glu) | |
| 7 | g.41965804T>A | CA367318796 | GLI3 | c.3269A>T (p.Asp1090Val) c.3095A>T (p.Asp1032Val) n.3246A>T c.3092A>T (p.Asp1031Val) c.3266A>T (p.Asp1089Val) | |
| 7 | g.41965804T>C | CA156904389 | GLI3 | c.3269A>G (p.Asp1090Gly) c.3095A>G (p.Asp1032Gly) n.3246A>G c.3092A>G (p.Asp1031Gly) c.3266A>G (p.Asp1089Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965804T>G | CA367318799 | GLI3 | c.3269A>C (p.Asp1090Ala) c.3095A>C (p.Asp1032Ala) n.3246A>C c.3092A>C (p.Asp1031Ala) c.3266A>C (p.Asp1089Ala) | |
| 7 | g.41965804T= | CA1702660947 | GLI3 | c.3269A= (p.Asp1090=) c.3095A= (p.Asp1032=) n.3246A= c.3092A= (p.Asp1031=) c.3266A= (p.Asp1089=) | |
| 7 | g.41965805C>A | CA367318802 | GLI3 | c.3268G>T (p.Asp1090Tyr) c.3094G>T (p.Asp1032Tyr) n.3245G>T c.3091G>T (p.Asp1031Tyr) c.3265G>T (p.Asp1089Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965805C= | CA1702660948 | GLI3 | c.3268G= (p.Asp1090=) c.3094G= (p.Asp1032=) n.3245G= c.3091G= (p.Asp1031=) c.3265G= (p.Asp1089=) | |
| 7 | g.41965805C>G | CA367318807 | GLI3 | c.3268G>C (p.Asp1090His) c.3094G>C (p.Asp1032His) n.3245G>C c.3091G>C (p.Asp1031His) c.3265G>C (p.Asp1089His) | |
| 7 | g.41965805C>T | CA367318804 | GLI3 | c.3268G>A (p.Asp1090Asn) c.3094G>A (p.Asp1032Asn) n.3245G>A c.3091G>A (p.Asp1031Asn) c.3265G>A (p.Asp1089Asn) | |
| 7 | g.41965806C>A | CA367318808 | GLI3 | c.3267G>T (p.Glu1089Asp) c.3093G>T (p.Glu1031Asp) n.3244G>T c.3090G>T (p.Glu1030Asp) c.3264G>T (p.Glu1088Asp) | |
| 7 | g.41965806C>G | CA367318809 | GLI3 | c.3267G>C (p.Glu1089Asp) c.3093G>C (p.Glu1031Asp) n.3244G>C c.3090G>C (p.Glu1030Asp) c.3264G>C (p.Glu1088Asp) | |
| 7 | g.41965806C>T | CA454662554 | GLI3 | c.3267G>A (p.Glu1089=) c.3093G>A (p.Glu1031=) n.3244G>A c.3090G>A (p.Glu1030=) c.3264G>A (p.Glu1088=) | |
| 7 | g.41965807T>A | CA367318810 | GLI3 | c.3266A>T (p.Glu1089Val) c.3092A>T (p.Glu1031Val) n.3243A>T c.3089A>T (p.Glu1030Val) c.3263A>T (p.Glu1088Val) | dbSNP |
| 7 | g.41965807T>C | CA367318811 | GLI3 | c.3266A>G (p.Glu1089Gly) c.3092A>G (p.Glu1031Gly) n.3243A>G c.3089A>G (p.Glu1030Gly) c.3263A>G (p.Glu1088Gly) | |
| 7 | g.41965807T>G | CA367318812 | GLI3 | c.3266A>C (p.Glu1089Ala) c.3092A>C (p.Glu1031Ala) n.3243A>C c.3089A>C (p.Glu1030Ala) c.3263A>C (p.Glu1088Ala) | |
| 7 | g.41965807T= | CA1702660949 | GLI3 | c.3266A= (p.Glu1089=) c.3092A= (p.Glu1031=) n.3243A= c.3089A= (p.Glu1030=) c.3263A= (p.Glu1088=) | |
| 7 | g.41965808C>A | CA367318813 | GLI3 | c.3265G>T (p.Glu1089Ter) c.3091G>T (p.Glu1031Ter) n.3242G>T c.3088G>T (p.Glu1030Ter) c.3262G>T (p.Glu1088Ter) | |
| 7 | g.41965808C>G | CA367318814 | GLI3 | c.3265G>C (p.Glu1089Gln) c.3091G>C (p.Glu1031Gln) n.3242G>C c.3088G>C (p.Glu1030Gln) c.3262G>C (p.Glu1088Gln) | |
| 7 | g.41965808C>T | CA367318815 | GLI3 | c.3265G>A (p.Glu1089Lys) c.3091G>A (p.Glu1031Lys) n.3242G>A c.3088G>A (p.Glu1030Lys) c.3262G>A (p.Glu1088Lys) | |
| 7 | g.41965809A>C | CA367318816 | GLI3 | c.3264T>G (p.Asp1088Glu) c.3090T>G (p.Asp1030Glu) n.3241T>G c.3087T>G (p.Asp1029Glu) c.3261T>G (p.Asp1087Glu) | |
| 7 | g.41965809A>G | CA454661742 | GLI3 | c.3264T>C (p.Asp1088=) c.3090T>C (p.Asp1030=) n.3241T>C c.3087T>C (p.Asp1029=) c.3261T>C (p.Asp1087=) | |
| 7 | g.41965809A>T | CA367318817 | GLI3 | c.3264T>A (p.Asp1088Glu) c.3090T>A (p.Asp1030Glu) n.3241T>A c.3087T>A (p.Asp1029Glu) c.3261T>A (p.Asp1087Glu) | |
| 7 | g.41965810T>A | CA367318820 | GLI3 | c.3263A>T (p.Asp1088Val) c.3089A>T (p.Asp1030Val) n.3240A>T c.3086A>T (p.Asp1029Val) c.3260A>T (p.Asp1087Val) | gnomAD v4 |
| 7 | g.41965810T>C | CA367318819 | GLI3 | c.3263A>G (p.Asp1088Gly) c.3089A>G (p.Asp1030Gly) n.3240A>G c.3086A>G (p.Asp1029Gly) c.3260A>G (p.Asp1087Gly) | |
| 7 | g.41965810T>G | CA367318818 | GLI3 | c.3263A>C (p.Asp1088Ala) c.3089A>C (p.Asp1030Ala) n.3240A>C c.3086A>C (p.Asp1029Ala) c.3260A>C (p.Asp1087Ala) | |
| 7 | g.41965811C>A | CA367318821 | GLI3 | c.3262G>T (p.Asp1088Tyr) c.3088G>T (p.Asp1030Tyr) n.3239G>T c.3085G>T (p.Asp1029Tyr) c.3259G>T (p.Asp1087Tyr) | gnomAD v4 |
| 7 | g.41965811C= | CA1702660950 | GLI3 | c.3262G= (p.Asp1088=) c.3088G= (p.Asp1030=) n.3239G= c.3085G= (p.Asp1029=) c.3259G= (p.Asp1087=) | |
| 7 | g.41965811C>G | CA367318822 | GLI3 | c.3262G>C (p.Asp1088His) c.3088G>C (p.Asp1030His) n.3239G>C c.3085G>C (p.Asp1029His) c.3259G>C (p.Asp1087His) | gnomAD v4 |
| 7 | g.41965811C>T | CA4230411 | GLI3 | c.3262G>A (p.Asp1088Asn) c.3088G>A (p.Asp1030Asn) n.3239G>A c.3085G>A (p.Asp1029Asn) c.3259G>A (p.Asp1087Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41965812G>A | CA4230412 | GLI3 | c.3261C>T (p.Asn1087=) c.3087C>T (p.Asn1029=) n.3238C>T c.3084C>T (p.Asn1028=) c.3258C>T (p.Asn1086=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965812G>C | CA367318823 | GLI3 | c.3261C>G (p.Asn1087Lys) c.3087C>G (p.Asn1029Lys) n.3238C>G c.3084C>G (p.Asn1028Lys) c.3258C>G (p.Asn1086Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965812G= | CA1702660951 | GLI3 | c.3261C= (p.Asn1087=) c.3087C= (p.Asn1029=) n.3238C= c.3084C= (p.Asn1028=) c.3258C= (p.Asn1086=) | |
| 7 | g.41965812G>T | CA4230413 | GLI3 | c.3261C>A (p.Asn1087Lys) c.3087C>A (p.Asn1029Lys) n.3238C>A c.3084C>A (p.Asn1028Lys) c.3258C>A (p.Asn1086Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965813T>A | CA367318824 | GLI3 | c.3260A>T (p.Asn1087Ile) c.3086A>T (p.Asn1029Ile) n.3237A>T c.3083A>T (p.Asn1028Ile) c.3257A>T (p.Asn1086Ile) | |
| 7 | g.41965813T>C | CA367318825 | GLI3 | c.3260A>G (p.Asn1087Ser) c.3086A>G (p.Asn1029Ser) n.3237A>G c.3083A>G (p.Asn1028Ser) c.3257A>G (p.Asn1086Ser) | |
| 7 | g.41965813T>G | CA367318826 | GLI3 | c.3260A>C (p.Asn1087Thr) c.3086A>C (p.Asn1029Thr) n.3237A>C c.3083A>C (p.Asn1028Thr) c.3257A>C (p.Asn1086Thr) | |
| 7 | g.41965814T>A | CA367318827 | GLI3 | c.3259A>T (p.Asn1087Tyr) c.3085A>T (p.Asn1029Tyr) n.3236A>T c.3082A>T (p.Asn1028Tyr) c.3256A>T (p.Asn1086Tyr) | |
| 7 | g.41965814T>C | CA367318828 | GLI3 | c.3259A>G (p.Asn1087Asp) c.3085A>G (p.Asn1029Asp) n.3236A>G c.3082A>G (p.Asn1028Asp) c.3256A>G (p.Asn1086Asp) | |
| 7 | g.41965814T>G | CA367318829 | GLI3 | c.3259A>C (p.Asn1087His) c.3085A>C (p.Asn1029His) n.3236A>C c.3082A>C (p.Asn1028His) c.3256A>C (p.Asn1086His) | |
| 7 | g.41965815C>A | CA454661743 | GLI3 | c.3258G>T (p.Leu1086=) c.3084G>T (p.Leu1028=) n.3235G>T c.3081G>T (p.Leu1027=) c.3255G>T (p.Leu1085=) | |
| 7 | g.41965815C>G | CA454661744 | GLI3 | c.3258G>C (p.Leu1086=) c.3084G>C (p.Leu1028=) n.3235G>C c.3081G>C (p.Leu1027=) c.3255G>C (p.Leu1085=) | |
| 7 | g.41965815C>T | CA454661745 | GLI3 | c.3258G>A (p.Leu1086=) c.3084G>A (p.Leu1028=) n.3235G>A c.3081G>A (p.Leu1027=) c.3255G>A (p.Leu1085=) | |
| 7 | g.41965816A>C | CA367318830 | GLI3 | c.3257T>G (p.Leu1086Arg) c.3083T>G (p.Leu1028Arg) n.3234T>G c.3080T>G (p.Leu1027Arg) c.3254T>G (p.Leu1085Arg) | |
| 7 | g.41965816A>G | CA367318831 | GLI3 | c.3257T>C (p.Leu1086Pro) c.3083T>C (p.Leu1028Pro) n.3234T>C c.3080T>C (p.Leu1027Pro) c.3254T>C (p.Leu1085Pro) | |
| 7 | g.41965816A>T | CA367318832 | GLI3 | c.3257T>A (p.Leu1086Gln) c.3083T>A (p.Leu1028Gln) n.3234T>A c.3080T>A (p.Leu1027Gln) c.3254T>A (p.Leu1085Gln) | |
| 7 | g.41965817G>A | CA454661746 | GLI3 | c.3256C>T (p.Leu1086=) c.3082C>T (p.Leu1028=) n.3233C>T c.3079C>T (p.Leu1027=) c.3253C>T (p.Leu1085=) | |
| 7 | g.41965817G>C | CA367318834 | GLI3 | c.3256C>G (p.Leu1086Val) c.3082C>G (p.Leu1028Val) n.3233C>G c.3079C>G (p.Leu1027Val) c.3253C>G (p.Leu1085Val) | |
| 7 | g.41965817G= | CA1702660952 | GLI3 | c.3256C= (p.Leu1086=) c.3082C= (p.Leu1028=) n.3233C= c.3079C= (p.Leu1027=) c.3253C= (p.Leu1085=) | |
| 7 | g.41965817G>T | CA367318833 | GLI3 | c.3256C>A (p.Leu1086Met) c.3082C>A (p.Leu1028Met) n.3233C>A c.3079C>A (p.Leu1027Met) c.3253C>A (p.Leu1085Met) | dbSNP |
| 7 | g.41965818G>A | CA454661747 | GLI3 | c.3255C>T (p.Asn1085=) c.3081C>T (p.Asn1027=) n.3232C>T c.3078C>T (p.Asn1026=) c.3252C>T (p.Asn1084=) | dbSNP gnomAD v4 |
| 7 | g.41965818G>C | CA367318835 | GLI3 | c.3255C>G (p.Asn1085Lys) c.3081C>G (p.Asn1027Lys) n.3232C>G c.3078C>G (p.Asn1026Lys) c.3252C>G (p.Asn1084Lys) | |
| 7 | g.41965818G= | CA1702660953 | GLI3 | c.3255C= (p.Asn1085=) c.3081C= (p.Asn1027=) n.3232C= c.3078C= (p.Asn1026=) c.3252C= (p.Asn1084=) | |
| 7 | g.41965818G>T | CA367318836 | GLI3 | c.3255C>A (p.Asn1085Lys) c.3081C>A (p.Asn1027Lys) n.3232C>A c.3078C>A (p.Asn1026Lys) c.3252C>A (p.Asn1084Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965819T>A | CA367318837 | GLI3 | c.3254A>T (p.Asn1085Ile) c.3080A>T (p.Asn1027Ile) n.3231A>T c.3077A>T (p.Asn1026Ile) c.3251A>T (p.Asn1084Ile) | COSMIC |
| 7 | g.41965819T>C | CA4230414 | GLI3 | c.3254A>G (p.Asn1085Ser) c.3080A>G (p.Asn1027Ser) n.3231A>G c.3077A>G (p.Asn1026Ser) c.3251A>G (p.Asn1084Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965819T>G | CA367318838 | GLI3 | c.3254A>C (p.Asn1085Thr) c.3080A>C (p.Asn1027Thr) n.3231A>C c.3077A>C (p.Asn1026Thr) c.3251A>C (p.Asn1084Thr) | |
| 7 | g.41965819T= | CA1702660954 | GLI3 | c.3254A= (p.Asn1085=) c.3080A= (p.Asn1027=) n.3231A= c.3077A= (p.Asn1026=) c.3251A= (p.Asn1084=) | |
| 7 | g.41965820T>A | CA367318839 | GLI3 | c.3253A>T (p.Asn1085Tyr) c.3079A>T (p.Asn1027Tyr) n.3230A>T c.3076A>T (p.Asn1026Tyr) c.3250A>T (p.Asn1084Tyr) | |
| 7 | g.41965820T>C | CA367318840 | GLI3 | c.3253A>G (p.Asn1085Asp) c.3079A>G (p.Asn1027Asp) n.3230A>G c.3076A>G (p.Asn1026Asp) c.3250A>G (p.Asn1084Asp) | |
| 7 | g.41965820T>G | CA367318841 | GLI3 | c.3253A>C (p.Asn1085His) c.3079A>C (p.Asn1027His) n.3230A>C c.3076A>C (p.Asn1026His) c.3250A>C (p.Asn1084His) | |
| 7 | g.41965821G>A | CA454661748 | GLI3 | c.3252C>T (p.Ala1084=) c.3078C>T (p.Ala1026=) n.3229C>T c.3075C>T (p.Ala1025=) c.3249C>T (p.Ala1083=) | dbSNP |
| 7 | g.41965821G>C | CA454661749 | GLI3 | c.3252C>G (p.Ala1084=) c.3078C>G (p.Ala1026=) n.3229C>G c.3075C>G (p.Ala1025=) c.3249C>G (p.Ala1083=) | |
| 7 | g.41965821G= | CA1702660955 | GLI3 | c.3252C= (p.Ala1084=) c.3078C= (p.Ala1026=) n.3229C= c.3075C= (p.Ala1025=) c.3249C= (p.Ala1083=) | |
| 7 | g.41965821G>T | CA454661750 | GLI3 | c.3252C>A (p.Ala1084=) c.3078C>A (p.Ala1026=) n.3229C>A c.3075C>A (p.Ala1025=) c.3249C>A (p.Ala1083=) | |
| 7 | g.41965821_41965822del | CA2569305153 | GLI3 | c.3251_3252del (p.Ala1084GlufsTer5) c.3077_3078del (p.Ala1026GlufsTer5) n.3228_3229del c.3074_3075del (p.Ala1025GlufsTer5) c.3248_3249del (p.Ala1083GlufsTer5) | |
| 7 | g.41965822G>A | CA4230415 | GLI3 | c.3251C>T (p.Ala1084Val) c.3077C>T (p.Ala1026Val) n.3228C>T c.3074C>T (p.Ala1025Val) c.3248C>T (p.Ala1083Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965822G>C | CA367318842 | GLI3 | c.3251C>G (p.Ala1084Gly) c.3077C>G (p.Ala1026Gly) n.3228C>G c.3074C>G (p.Ala1025Gly) c.3248C>G (p.Ala1083Gly) | |
| 7 | g.41965822G= | CA1702660956 | GLI3 | c.3251C= (p.Ala1084=) c.3077C= (p.Ala1026=) n.3228C= c.3074C= (p.Ala1025=) c.3248C= (p.Ala1083=) | |
| 7 | g.41965822G>T | CA367318843 | GLI3 | c.3251C>A (p.Ala1084Asp) c.3077C>A (p.Ala1026Asp) n.3228C>A c.3074C>A (p.Ala1025Asp) c.3248C>A (p.Ala1083Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965823C>A | CA367318846 | GLI3 | c.3250G>T (p.Ala1084Ser) c.3076G>T (p.Ala1026Ser) n.3227G>T c.3073G>T (p.Ala1025Ser) c.3247G>T (p.Ala1083Ser) | |
| 7 | g.41965823C>G | CA367318845 | GLI3 | c.3250G>C (p.Ala1084Pro) c.3076G>C (p.Ala1026Pro) n.3227G>C c.3073G>C (p.Ala1025Pro) c.3247G>C (p.Ala1083Pro) | |
| 7 | g.41965823C>T | CA367318844 | GLI3 | c.3250G>A (p.Ala1084Thr) c.3076G>A (p.Ala1026Thr) n.3227G>A c.3073G>A (p.Ala1025Thr) c.3247G>A (p.Ala1083Thr) | gnomAD v4 |
| 7 | g.41965824A>C | CA367318847 | GLI3 | c.3249T>G (p.Asp1083Glu) c.3075T>G (p.Asp1025Glu) n.3226T>G c.3072T>G (p.Asp1024Glu) c.3246T>G (p.Asp1082Glu) | |
| 7 | g.41965824A>G | CA454661751 | GLI3 | c.3249T>C (p.Asp1083=) c.3075T>C (p.Asp1025=) n.3226T>C c.3072T>C (p.Asp1024=) c.3246T>C (p.Asp1082=) | |
| 7 | g.41965824A>T | CA367318848 | GLI3 | c.3249T>A (p.Asp1083Glu) c.3075T>A (p.Asp1025Glu) n.3226T>A c.3072T>A (p.Asp1024Glu) c.3246T>A (p.Asp1082Glu) | |
| 7 | g.41965824_41965825insCG | CA2521572352 | GLI3 | c.3248_3249insCG (p.Ala1084ValfsTer4) c.3074_3075insCG (p.Ala1026ValfsTer4) n.3225_3226insCG c.3071_3072insCG (p.Ala1025ValfsTer4) c.3245_3246insCG (p.Ala1083ValfsTer4) | |
| 7 | g.41965825T>A | CA367318849 | GLI3 | c.3248A>T (p.Asp1083Val) c.3074A>T (p.Asp1025Val) n.3225A>T c.3071A>T (p.Asp1024Val) c.3245A>T (p.Asp1082Val) | |
| 7 | g.41965825T>C | CA367318850 | GLI3 | c.3248A>G (p.Asp1083Gly) c.3074A>G (p.Asp1025Gly) n.3225A>G c.3071A>G (p.Asp1024Gly) c.3245A>G (p.Asp1082Gly) | |
| 7 | g.41965825T>G | CA367318851 | GLI3 | c.3248A>C (p.Asp1083Ala) c.3074A>C (p.Asp1025Ala) n.3225A>C c.3071A>C (p.Asp1024Ala) c.3245A>C (p.Asp1082Ala) | |
| 7 | g.41965826C>A | CA367318852 | GLI3 | c.3247G>T (p.Asp1083Tyr) c.3073G>T (p.Asp1025Tyr) n.3224G>T c.3070G>T (p.Asp1024Tyr) c.3244G>T (p.Asp1082Tyr) | |
| 7 | g.41965826C>G | CA367318853 | GLI3 | c.3247G>C (p.Asp1083His) c.3073G>C (p.Asp1025His) n.3224G>C c.3070G>C (p.Asp1024His) c.3244G>C (p.Asp1082His) | |
| 7 | g.41965826C>T | CA367318854 | GLI3 | c.3247G>A (p.Asp1083Asn) c.3073G>A (p.Asp1025Asn) n.3224G>A c.3070G>A (p.Asp1024Asn) c.3244G>A (p.Asp1082Asn) | |
| 7 | g.41965827A= | CA1702660957 | GLI3 | c.3246T= (p.Ala1082=) c.3072T= (p.Ala1024=) n.3223T= c.3069T= (p.Ala1023=) c.3243T= (p.Ala1081=) | |
| 7 | g.41965827A>C | CA454661754 | GLI3 | c.3246T>G (p.Ala1082=) c.3072T>G (p.Ala1024=) n.3223T>G c.3069T>G (p.Ala1023=) c.3243T>G (p.Ala1081=) | |
| 7 | g.41965827A>G | CA454661753 | GLI3 | c.3246T>C (p.Ala1082=) c.3072T>C (p.Ala1024=) n.3223T>C c.3069T>C (p.Ala1023=) c.3243T>C (p.Ala1081=) | |
| 7 | g.41965827A>T | CA454661752 | GLI3 | c.3246T>A (p.Ala1082=) c.3072T>A (p.Ala1024=) n.3223T>A c.3069T>A (p.Ala1023=) c.3243T>A (p.Ala1081=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965828G>A | CA367318855 | GLI3 | c.3245C>T (p.Ala1082Val) c.3071C>T (p.Ala1024Val) n.3222C>T c.3068C>T (p.Ala1023Val) c.3242C>T (p.Ala1081Val) | gnomAD v4 |
| 7 | g.41965828G>C | CA367318856 | GLI3 | c.3245C>G (p.Ala1082Gly) c.3071C>G (p.Ala1024Gly) n.3222C>G c.3068C>G (p.Ala1023Gly) c.3242C>G (p.Ala1081Gly) | |
| 7 | g.41965828G>T | CA367318857 | GLI3 | c.3245C>A (p.Ala1082Asp) c.3071C>A (p.Ala1024Asp) n.3222C>A c.3068C>A (p.Ala1023Asp) c.3242C>A (p.Ala1081Asp) | |
| 7 | g.41965829C>A | CA367318858 | GLI3 | c.3244G>T (p.Ala1082Ser) c.3070G>T (p.Ala1024Ser) n.3221G>T c.3067G>T (p.Ala1023Ser) c.3241G>T (p.Ala1081Ser) | |
| 7 | g.41965829C= | CA1702660958 | GLI3 | c.3244G= (p.Ala1082=) c.3070G= (p.Ala1024=) n.3221G= c.3067G= (p.Ala1023=) c.3241G= (p.Ala1081=) | |
| 7 | g.41965829C>G | CA367318859 | GLI3 | c.3244G>C (p.Ala1082Pro) c.3070G>C (p.Ala1024Pro) n.3221G>C c.3067G>C (p.Ala1023Pro) c.3241G>C (p.Ala1081Pro) | |
| 7 | g.41965829C>T | CA4230416 | GLI3 | c.3244G>A (p.Ala1082Thr) c.3070G>A (p.Ala1024Thr) n.3221G>A c.3067G>A (p.Ala1023Thr) c.3241G>A (p.Ala1081Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41965830G>A | CA454661755 | GLI3 | c.3243C>T (p.Asp1081=) c.3069C>T (p.Asp1023=) n.3220C>T c.3066C>T (p.Asp1022=) c.3240C>T (p.Asp1080=) | dbSNP |
| 7 | g.41965830G>C | CA367318860 | GLI3 | c.3243C>G (p.Asp1081Glu) c.3069C>G (p.Asp1023Glu) n.3220C>G c.3066C>G (p.Asp1022Glu) c.3240C>G (p.Asp1080Glu) | ClinVar |
| 7 | g.41965830G= | CA1702660959 | GLI3 | c.3243C= (p.Asp1081=) c.3069C= (p.Asp1023=) n.3220C= c.3066C= (p.Asp1022=) c.3240C= (p.Asp1080=) | |
| 7 | g.41965830G>T | CA367318861 | GLI3 | c.3243C>A (p.Asp1081Glu) c.3069C>A (p.Asp1023Glu) n.3220C>A c.3066C>A (p.Asp1022Glu) c.3240C>A (p.Asp1080Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965831T>A | CA367318862 | GLI3 | c.3242A>T (p.Asp1081Val) c.3068A>T (p.Asp1023Val) n.3219A>T c.3065A>T (p.Asp1022Val) c.3239A>T (p.Asp1080Val) | |
| 7 | g.41965831T>C | CA367318863 | GLI3 | c.3242A>G (p.Asp1081Gly) c.3068A>G (p.Asp1023Gly) n.3219A>G c.3065A>G (p.Asp1022Gly) c.3239A>G (p.Asp1080Gly) | |
| 7 | g.41965831T>G | CA367318864 | GLI3 | c.3242A>C (p.Asp1081Ala) c.3068A>C (p.Asp1023Ala) n.3219A>C c.3065A>C (p.Asp1022Ala) c.3239A>C (p.Asp1080Ala) | gnomAD v4 |
| 7 | g.41965832C>A | CA367318865 | GLI3 | c.3241G>T (p.Asp1081Tyr) c.3067G>T (p.Asp1023Tyr) n.3218G>T c.3064G>T (p.Asp1022Tyr) c.3238G>T (p.Asp1080Tyr) | |
| 7 | g.41965832C>G | CA367318866 | GLI3 | c.3241G>C (p.Asp1081His) c.3067G>C (p.Asp1023His) n.3218G>C c.3064G>C (p.Asp1022His) c.3238G>C (p.Asp1080His) | |
| 7 | g.41965832C>T | CA367318867 | GLI3 | c.3241G>A (p.Asp1081Asn) c.3067G>A (p.Asp1023Asn) n.3218G>A c.3064G>A (p.Asp1022Asn) c.3238G>A (p.Asp1080Asn) | |
| 7 | g.41965833C>A | CA367318868 | GLI3 | c.3240G>T (p.Met1080Ile) c.3066G>T (p.Met1022Ile) n.3217G>T c.3063G>T (p.Met1021Ile) c.3237G>T (p.Met1079Ile) | |
| 7 | g.41965833C>G | CA367318869 | GLI3 | c.3240G>C (p.Met1080Ile) c.3066G>C (p.Met1022Ile) n.3217G>C c.3063G>C (p.Met1021Ile) c.3237G>C (p.Met1079Ile) | |
| 7 | g.41965833C>T | CA367318870 | GLI3 | c.3240G>A (p.Met1080Ile) c.3066G>A (p.Met1022Ile) n.3217G>A c.3063G>A (p.Met1021Ile) c.3237G>A (p.Met1079Ile) | |
| 7 | g.41965834A= | CA1702660960 | GLI3 | c.3239T= (p.Met1080=) c.3065T= (p.Met1022=) n.3216T= c.3062T= (p.Met1021=) c.3236T= (p.Met1079=) | |
| 7 | g.41965834A>C | CA367318871 | GLI3 | c.3239T>G (p.Met1080Arg) c.3065T>G (p.Met1022Arg) n.3216T>G c.3062T>G (p.Met1021Arg) c.3236T>G (p.Met1079Arg) | gnomAD v4 |
| 7 | g.41965834A>G | CA367318872 | GLI3 | c.3239T>C (p.Met1080Thr) c.3065T>C (p.Met1022Thr) n.3216T>C c.3062T>C (p.Met1021Thr) c.3236T>C (p.Met1079Thr) | dbSNP |
| 7 | g.41965834A>T | CA367318873 | GLI3 | c.3239T>A (p.Met1080Lys) c.3065T>A (p.Met1022Lys) n.3216T>A c.3062T>A (p.Met1021Lys) c.3236T>A (p.Met1079Lys) | |
| 7 | g.41965835T>A | CA367318875 | GLI3 | c.3238A>T (p.Met1080Leu) c.3064A>T (p.Met1022Leu) n.3215A>T c.3061A>T (p.Met1021Leu) c.3235A>T (p.Met1079Leu) | |
| 7 | g.41965835T>C | CA367318876 | GLI3 | c.3238A>G (p.Met1080Val) c.3064A>G (p.Met1022Val) n.3215A>G c.3061A>G (p.Met1021Val) c.3235A>G (p.Met1079Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965835T>G | CA367318874 | GLI3 | c.3238A>C (p.Met1080Leu) c.3064A>C (p.Met1022Leu) n.3215A>C c.3061A>C (p.Met1021Leu) c.3235A>C (p.Met1079Leu) | |
| 7 | g.41965835T= | CA1702660961 | GLI3 | c.3238A= (p.Met1080=) c.3064A= (p.Met1022=) n.3215A= c.3061A= (p.Met1021=) c.3235A= (p.Met1079=) | |
| 7 | g.41965836G>A | CA454661756 | GLI3 | c.3237C>T (p.Thr1079=) c.3063C>T (p.Thr1021=) n.3214C>T c.3060C>T (p.Thr1020=) c.3234C>T (p.Thr1078=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41965836G>C | CA454661757 | GLI3 | c.3237C>G (p.Thr1079=) c.3063C>G (p.Thr1021=) n.3214C>G c.3060C>G (p.Thr1020=) c.3234C>G (p.Thr1078=) | gnomAD v4 |
| 7 | g.41965836G= | CA1702660962 | GLI3 | c.3237C= (p.Thr1079=) c.3063C= (p.Thr1021=) n.3214C= c.3060C= (p.Thr1020=) c.3234C= (p.Thr1078=) | |
| 7 | g.41965836G>T | CA454661758 | GLI3 | c.3237C>A (p.Thr1079=) c.3063C>A (p.Thr1021=) n.3214C>A c.3060C>A (p.Thr1020=) c.3234C>A (p.Thr1078=) | |
| 7 | g.41965837G>A | CA367318878 | GLI3 | c.3236C>T (p.Thr1079Ile) c.3062C>T (p.Thr1021Ile) n.3213C>T c.3059C>T (p.Thr1020Ile) c.3233C>T (p.Thr1078Ile) | gnomAD v4 |
| 7 | g.41965837G>C | CA367318877 | GLI3 | c.3236C>G (p.Thr1079Ser) c.3062C>G (p.Thr1021Ser) n.3213C>G c.3059C>G (p.Thr1020Ser) c.3233C>G (p.Thr1078Ser) | |
| 7 | g.41965837G>T | CA367318879 | GLI3 | c.3236C>A (p.Thr1079Asn) c.3062C>A (p.Thr1021Asn) n.3213C>A c.3059C>A (p.Thr1020Asn) c.3233C>A (p.Thr1078Asn) | |
| 7 | g.41965838T>A | CA367318880 | GLI3 | c.3235A>T (p.Thr1079Ser) c.3061A>T (p.Thr1021Ser) n.3212A>T c.3058A>T (p.Thr1020Ser) c.3232A>T (p.Thr1078Ser) | |
| 7 | g.41965838T>C | CA367318881 | GLI3 | c.3235A>G (p.Thr1079Ala) c.3061A>G (p.Thr1021Ala) n.3212A>G c.3058A>G (p.Thr1020Ala) c.3232A>G (p.Thr1078Ala) | |
| 7 | g.41965838T>G | CA367318882 | GLI3 | c.3235A>C (p.Thr1079Pro) c.3061A>C (p.Thr1021Pro) n.3212A>C c.3058A>C (p.Thr1020Pro) c.3232A>C (p.Thr1078Pro) | |
| 7 | g.41965839C>A | CA454661759 | GLI3 | c.3234G>T (p.Leu1078=) c.3060G>T (p.Leu1020=) n.3211G>T c.3057G>T (p.Leu1019=) c.3231G>T (p.Leu1077=) | |
| 7 | g.41965839C>G | CA454661760 | GLI3 | c.3234G>C (p.Leu1078=) c.3060G>C (p.Leu1020=) n.3211G>C c.3057G>C (p.Leu1019=) c.3231G>C (p.Leu1077=) | |
| 7 | g.41965839C>T | CA454661761 | GLI3 | c.3234G>A (p.Leu1078=) c.3060G>A (p.Leu1020=) n.3211G>A c.3057G>A (p.Leu1019=) c.3231G>A (p.Leu1077=) | |
| 7 | g.41965840A>C | CA367318883 | GLI3 | c.3233T>G (p.Leu1078Arg) c.3059T>G (p.Leu1020Arg) n.3210T>G c.3056T>G (p.Leu1019Arg) c.3230T>G (p.Leu1077Arg) | |
| 7 | g.41965840A>G | CA367318884 | GLI3 | c.3233T>C (p.Leu1078Pro) c.3059T>C (p.Leu1020Pro) n.3210T>C c.3056T>C (p.Leu1019Pro) c.3230T>C (p.Leu1077Pro) | |
| 7 | g.41965840A>T | CA367318885 | GLI3 | c.3233T>A (p.Leu1078Gln) c.3059T>A (p.Leu1020Gln) n.3210T>A c.3056T>A (p.Leu1019Gln) c.3230T>A (p.Leu1077Gln) | |
| 7 | g.41965841G>A | CA4230417 | GLI3 | c.3232C>T (p.Leu1078=) c.3058C>T (p.Leu1020=) n.3209C>T c.3055C>T (p.Leu1019=) c.3229C>T (p.Leu1077=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965841G>C | CA367318886 | GLI3 | c.3232C>G (p.Leu1078Val) c.3058C>G (p.Leu1020Val) n.3209C>G c.3055C>G (p.Leu1019Val) c.3229C>G (p.Leu1077Val) | |
| 7 | g.41965841G= | CA1702660963 | GLI3 | c.3232C= (p.Leu1078=) c.3058C= (p.Leu1020=) n.3209C= c.3055C= (p.Leu1019=) c.3229C= (p.Leu1077=) | |
| 7 | g.41965841G>T | CA367318887 | GLI3 | c.3232C>A (p.Leu1078Met) c.3058C>A (p.Leu1020Met) n.3209C>A c.3055C>A (p.Leu1019Met) c.3229C>A (p.Leu1077Met) | gnomAD v4 |
| 7 | g.41965842G>A | CA454661762 | GLI3 | c.3231C>T (p.Ser1077=) c.3057C>T (p.Ser1019=) n.3208C>T c.3054C>T (p.Ser1018=) c.3228C>T (p.Ser1076=) | |
| 7 | g.41965842G>C | CA454661763 | GLI3 | c.3231C>G (p.Ser1077=) c.3057C>G (p.Ser1019=) n.3208C>G c.3054C>G (p.Ser1018=) c.3228C>G (p.Ser1076=) | |
| 7 | g.41965842G= | CA1702660964 | GLI3 | c.3231C= (p.Ser1077=) c.3057C= (p.Ser1019=) n.3208C= c.3054C= (p.Ser1018=) c.3228C= (p.Ser1076=) | |
| 7 | g.41965842G>T | CA454661764 | GLI3 | c.3231C>A (p.Ser1077=) c.3057C>A (p.Ser1019=) n.3208C>A c.3054C>A (p.Ser1018=) c.3228C>A (p.Ser1076=) | gnomAD v4 |
| 7 | g.41965843G>A | CA367318888 | GLI3 | c.3230C>T (p.Ser1077Phe) c.3056C>T (p.Ser1019Phe) n.3207C>T c.3053C>T (p.Ser1018Phe) c.3227C>T (p.Ser1076Phe) | |
| 7 | g.41965843G>C | CA367318889 | GLI3 | c.3230C>G (p.Ser1077Cys) c.3056C>G (p.Ser1019Cys) n.3207C>G c.3053C>G (p.Ser1018Cys) c.3227C>G (p.Ser1076Cys) | |
| 7 | g.41965843G= | CA1702660965 | GLI3 | c.3230C= (p.Ser1077=) c.3056C= (p.Ser1019=) n.3207C= c.3053C= (p.Ser1018=) c.3227C= (p.Ser1076=) | |
| 7 | g.41965843G>T | CA367318890 | GLI3 | c.3230C>A (p.Ser1077Tyr) c.3056C>A (p.Ser1019Tyr) n.3207C>A c.3053C>A (p.Ser1018Tyr) c.3227C>A (p.Ser1076Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965843_41965845dup | CA573904735 | GLI3 | c.3228_3230dup (p.Ser1077_Leu1078insSer) c.3054_3056dup (p.Ser1019_Leu1020insSer) n.3205_3207dup c.3051_3053dup (p.Ser1018_Leu1019insSer) c.3225_3227dup (p.Ser1076_Leu1077insSer) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965844A>C | CA367318893 | GLI3 | c.3229T>G (p.Ser1077Ala) c.3055T>G (p.Ser1019Ala) n.3206T>G c.3052T>G (p.Ser1018Ala) c.3226T>G (p.Ser1076Ala) | |
| 7 | g.41965844A>G | CA367318891 | GLI3 | c.3229T>C (p.Ser1077Pro) c.3055T>C (p.Ser1019Pro) n.3206T>C c.3052T>C (p.Ser1018Pro) c.3226T>C (p.Ser1076Pro) | |
| 7 | g.41965844A>T | CA367318892 | GLI3 | c.3229T>A (p.Ser1077Thr) c.3055T>A (p.Ser1019Thr) n.3206T>A c.3052T>A (p.Ser1018Thr) c.3226T>A (p.Ser1076Thr) | |
| 7 | g.41965845C>A | CA367318894 | GLI3 | c.3228G>T (p.Glu1076Asp) c.3054G>T (p.Glu1018Asp) n.3205G>T c.3051G>T (p.Glu1017Asp) c.3225G>T (p.Glu1075Asp) | |
| 7 | g.41965845C>G | CA367318895 | GLI3 | c.3228G>C (p.Glu1076Asp) c.3054G>C (p.Glu1018Asp) n.3205G>C c.3051G>C (p.Glu1017Asp) c.3225G>C (p.Glu1075Asp) | |
| 7 | g.41965845C>T | CA454661765 | GLI3 | c.3228G>A (p.Glu1076=) c.3054G>A (p.Glu1018=) n.3205G>A c.3051G>A (p.Glu1017=) c.3225G>A (p.Glu1075=) | gnomAD v4 |
| 7 | g.41965846T>A | CA367318896 | GLI3 | c.3227A>T (p.Glu1076Val) c.3053A>T (p.Glu1018Val) n.3204A>T c.3050A>T (p.Glu1017Val) c.3224A>T (p.Glu1075Val) | |
| 7 | g.41965846T>C | CA367318897 | GLI3 | c.3227A>G (p.Glu1076Gly) c.3053A>G (p.Glu1018Gly) n.3204A>G c.3050A>G (p.Glu1017Gly) c.3224A>G (p.Glu1075Gly) | |
| 7 | g.41965846T>G | CA367318898 | GLI3 | c.3227A>C (p.Glu1076Ala) c.3053A>C (p.Glu1018Ala) n.3204A>C c.3050A>C (p.Glu1017Ala) c.3224A>C (p.Glu1075Ala) | |
| 7 | g.41965847C>A | CA367318899 | GLI3 | c.3226G>T (p.Glu1076Ter) c.3052G>T (p.Glu1018Ter) n.3203G>T c.3049G>T (p.Glu1017Ter) c.3223G>T (p.Glu1075Ter) | |
| 7 | g.41965847C>G | CA367318900 | GLI3 | c.3226G>C (p.Glu1076Gln) c.3052G>C (p.Glu1018Gln) n.3203G>C c.3049G>C (p.Glu1017Gln) c.3223G>C (p.Glu1075Gln) | |
| 7 | g.41965847C>T | CA367318901 | GLI3 | c.3226G>A (p.Glu1076Lys) c.3052G>A (p.Glu1018Lys) n.3203G>A c.3049G>A (p.Glu1017Lys) c.3223G>A (p.Glu1075Lys) | COSMIC |
| 7 | g.41965848C>A | CA454661766 | GLI3 | c.3225G>T (p.Leu1075=) c.3051G>T (p.Leu1017=) n.3202G>T c.3048G>T (p.Leu1016=) c.3222G>T (p.Leu1074=) | |
| 7 | g.41965848C= | CA1702660966 | GLI3 | c.3225G= (p.Leu1075=) c.3051G= (p.Leu1017=) n.3202G= c.3048G= (p.Leu1016=) c.3222G= (p.Leu1074=) | |
| 7 | g.41965848C>G | CA454661767 | GLI3 | c.3225G>C (p.Leu1075=) c.3051G>C (p.Leu1017=) n.3202G>C c.3048G>C (p.Leu1016=) c.3222G>C (p.Leu1074=) | |
| 7 | g.41965848C>T | CA4230418 | GLI3 | c.3225G>A (p.Leu1075=) c.3051G>A (p.Leu1017=) n.3202G>A c.3048G>A (p.Leu1016=) c.3222G>A (p.Leu1074=) | dbSNP ExAC |
| 7 | g.41965849del | CA2582341644 | GLI3 | c.3224del (p.Leu1075ArgfsTer4) c.3050del (p.Leu1017ArgfsTer4) n.3201del c.3047del (p.Leu1016ArgfsTer4) c.3221del (p.Leu1074ArgfsTer4) | ClinVar |
| 7 | g.41965849A>C | CA367318902 | GLI3 | c.3224T>G (p.Leu1075Arg) c.3050T>G (p.Leu1017Arg) n.3201T>G c.3047T>G (p.Leu1016Arg) c.3221T>G (p.Leu1074Arg) | |
| 7 | g.41965849A>G | CA367318903 | GLI3 | c.3224T>C (p.Leu1075Pro) c.3050T>C (p.Leu1017Pro) n.3201T>C c.3047T>C (p.Leu1016Pro) c.3221T>C (p.Leu1074Pro) | |
| 7 | g.41965849A>T | CA367318904 | GLI3 | c.3224T>A (p.Leu1075Gln) c.3050T>A (p.Leu1017Gln) n.3201T>A c.3047T>A (p.Leu1016Gln) c.3221T>A (p.Leu1074Gln) | |
| 7 | g.41965850G>A | CA454661768 | GLI3 | c.3223C>T (p.Leu1075=) c.3049C>T (p.Leu1017=) n.3200C>T c.3046C>T (p.Leu1016=) c.3220C>T (p.Leu1074=) | |
| 7 | g.41965850G>C | CA367318906 | GLI3 | c.3223C>G (p.Leu1075Val) c.3049C>G (p.Leu1017Val) n.3200C>G c.3046C>G (p.Leu1016Val) c.3220C>G (p.Leu1074Val) | |
| 7 | g.41965850G>T | CA367318905 | GLI3 | c.3223C>A (p.Leu1075Met) c.3049C>A (p.Leu1017Met) n.3200C>A c.3046C>A (p.Leu1016Met) c.3220C>A (p.Leu1074Met) | |
| 7 | g.41965851G>A | CA454661771 | GLI3 | c.3222C>T (p.Thr1074=) c.3048C>T (p.Thr1016=) n.3199C>T c.3045C>T (p.Thr1015=) c.3219C>T (p.Thr1073=) | dbSNP |
| 7 | g.41965851G>C | CA454661769 | GLI3 | c.3222C>G (p.Thr1074=) c.3048C>G (p.Thr1016=) n.3199C>G c.3045C>G (p.Thr1015=) c.3219C>G (p.Thr1073=) | |
| 7 | g.41965851G= | CA1702660967 | GLI3 | c.3222C= (p.Thr1074=) c.3048C= (p.Thr1016=) n.3199C= c.3045C= (p.Thr1015=) c.3219C= (p.Thr1073=) | |
| 7 | g.41965851G>T | CA454661770 | GLI3 | c.3222C>A (p.Thr1074=) c.3048C>A (p.Thr1016=) n.3199C>A c.3045C>A (p.Thr1015=) c.3219C>A (p.Thr1073=) | |
| 7 | g.41965852G>A | CA367318907 | GLI3 | c.3221C>T (p.Thr1074Ile) c.3047C>T (p.Thr1016Ile) n.3198C>T c.3044C>T (p.Thr1015Ile) c.3218C>T (p.Thr1073Ile) | |
| 7 | g.41965852G>C | CA367318909 | GLI3 | c.3221C>G (p.Thr1074Ser) c.3047C>G (p.Thr1016Ser) n.3198C>G c.3044C>G (p.Thr1015Ser) c.3218C>G (p.Thr1073Ser) | |
| 7 | g.41965852G>T | CA367318908 | GLI3 | c.3221C>A (p.Thr1074Asn) c.3047C>A (p.Thr1016Asn) n.3198C>A c.3044C>A (p.Thr1015Asn) c.3218C>A (p.Thr1073Asn) | |
| 7 | g.41965853T>A | CA367318910 | GLI3 | c.3220A>T (p.Thr1074Ser) c.3046A>T (p.Thr1016Ser) n.3197A>T c.3043A>T (p.Thr1015Ser) c.3217A>T (p.Thr1073Ser) | |
| 7 | g.41965853T>C | CA367318911 | GLI3 | c.3220A>G (p.Thr1074Ala) c.3046A>G (p.Thr1016Ala) n.3197A>G c.3043A>G (p.Thr1015Ala) c.3217A>G (p.Thr1073Ala) | |
| 7 | g.41965853T>G | CA367318912 | GLI3 | c.3220A>C (p.Thr1074Pro) c.3046A>C (p.Thr1016Pro) n.3197A>C c.3043A>C (p.Thr1015Pro) c.3217A>C (p.Thr1073Pro) | |
| 7 | g.41965854G>A | CA454661772 | GLI3 | c.3219C>T (p.Val1073=) c.3045C>T (p.Val1015=) n.3196C>T c.3042C>T (p.Val1014=) c.3216C>T (p.Val1072=) | |
| 7 | g.41965854G>C | CA454661773 | GLI3 | c.3219C>G (p.Val1073=) c.3045C>G (p.Val1015=) n.3196C>G c.3042C>G (p.Val1014=) c.3216C>G (p.Val1072=) | |
| 7 | g.41965854G>T | CA454661774 | GLI3 | c.3219C>A (p.Val1073=) c.3045C>A (p.Val1015=) n.3196C>A c.3042C>A (p.Val1014=) c.3216C>A (p.Val1072=) | |
| 7 | g.41965855A>C | CA367318913 | GLI3 | c.3218T>G (p.Val1073Gly) c.3044T>G (p.Val1015Gly) n.3195T>G c.3041T>G (p.Val1014Gly) c.3215T>G (p.Val1072Gly) | |
| 7 | g.41965855A>G | CA367318914 | GLI3 | c.3218T>C (p.Val1073Ala) c.3044T>C (p.Val1015Ala) n.3195T>C c.3041T>C (p.Val1014Ala) c.3215T>C (p.Val1072Ala) | |
| 7 | g.41965855A>T | CA367318915 | GLI3 | c.3218T>A (p.Val1073Asp) c.3044T>A (p.Val1015Asp) n.3195T>A c.3041T>A (p.Val1014Asp) c.3215T>A (p.Val1072Asp) | |
| 7 | g.41965856C>A | CA367318916 | GLI3 | c.3217G>T (p.Val1073Phe) c.3043G>T (p.Val1015Phe) n.3194G>T c.3040G>T (p.Val1014Phe) c.3214G>T (p.Val1072Phe) | |
| 7 | g.41965856C>G | CA367318917 | GLI3 | c.3217G>C (p.Val1073Leu) c.3043G>C (p.Val1015Leu) n.3194G>C c.3040G>C (p.Val1014Leu) c.3214G>C (p.Val1072Leu) | |
| 7 | g.41965856C>T | CA367318918 | GLI3 | c.3217G>A (p.Val1073Ile) c.3043G>A (p.Val1015Ile) n.3194G>A c.3040G>A (p.Val1014Ile) c.3214G>A (p.Val1072Ile) | dbSNP COSMIC |
| 7 | g.41965857G>A | CA454661775 | GLI3 | c.3216C>T (p.Asn1072=) c.3042C>T (p.Asn1014=) n.3193C>T c.3039C>T (p.Asn1013=) c.3213C>T (p.Asn1071=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41965857G>C | CA367318919 | GLI3 | c.3216C>G (p.Asn1072Lys) c.3042C>G (p.Asn1014Lys) n.3193C>G c.3039C>G (p.Asn1013Lys) c.3213C>G (p.Asn1071Lys) | |
| 7 | g.41965857G= | CA1702660968 | GLI3 | c.3216C= (p.Asn1072=) c.3042C= (p.Asn1014=) n.3193C= c.3039C= (p.Asn1013=) c.3213C= (p.Asn1071=) | |
| 7 | g.41965857G>T | CA367318920 | GLI3 | c.3216C>A (p.Asn1072Lys) c.3042C>A (p.Asn1014Lys) n.3193C>A c.3039C>A (p.Asn1013Lys) c.3213C>A (p.Asn1071Lys) | |
| 7 | g.41965858T>A | CA367318923 | GLI3 | c.3215A>T (p.Asn1072Ile) c.3041A>T (p.Asn1014Ile) n.3192A>T c.3038A>T (p.Asn1013Ile) c.3212A>T (p.Asn1071Ile) | |
| 7 | g.41965858T>C | CA367318922 | GLI3 | c.3215A>G (p.Asn1072Ser) c.3041A>G (p.Asn1014Ser) n.3192A>G c.3038A>G (p.Asn1013Ser) c.3212A>G (p.Asn1071Ser) | |
| 7 | g.41965858T>G | CA367318921 | GLI3 | c.3215A>C (p.Asn1072Thr) c.3041A>C (p.Asn1014Thr) n.3192A>C c.3038A>C (p.Asn1013Thr) c.3212A>C (p.Asn1071Thr) | dbSNP |
| 7 | g.41965858T= | CA1702660969 | GLI3 | c.3215A= (p.Asn1072=) c.3041A= (p.Asn1014=) n.3192A= c.3038A= (p.Asn1013=) c.3212A= (p.Asn1071=) | |
| 7 | g.41965859T>A | CA367318924 | GLI3 | c.3214A>T (p.Asn1072Tyr) c.3040A>T (p.Asn1014Tyr) n.3191A>T c.3037A>T (p.Asn1013Tyr) c.3211A>T (p.Asn1071Tyr) | |
| 7 | g.41965859T>C | CA367318925 | GLI3 | c.3214A>G (p.Asn1072Asp) c.3040A>G (p.Asn1014Asp) n.3191A>G c.3037A>G (p.Asn1013Asp) c.3211A>G (p.Asn1071Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965859T>G | CA367318926 | GLI3 | c.3214A>C (p.Asn1072His) c.3040A>C (p.Asn1014His) n.3191A>C c.3037A>C (p.Asn1013His) c.3211A>C (p.Asn1071His) | |
| 7 | g.41965859T= | CA1702660970 | GLI3 | c.3214A= (p.Asn1072=) c.3040A= (p.Asn1014=) n.3191A= c.3037A= (p.Asn1013=) c.3211A= (p.Asn1071=) | |
| 7 | g.41965860C>A | CA367318927 | GLI3 | c.3213G>T (p.Glu1071Asp) c.3039G>T (p.Glu1013Asp) n.3190G>T c.3036G>T (p.Glu1012Asp) c.3210G>T (p.Glu1070Asp) | dbSNP |
| 7 | g.41965860C= | CA1702660971 | GLI3 | c.3213G= (p.Glu1071=) c.3039G= (p.Glu1013=) n.3190G= c.3036G= (p.Glu1012=) c.3210G= (p.Glu1070=) | |
| 7 | g.41965860C>G | CA367318928 | GLI3 | c.3213G>C (p.Glu1071Asp) c.3039G>C (p.Glu1013Asp) n.3190G>C c.3036G>C (p.Glu1012Asp) c.3210G>C (p.Glu1070Asp) | |
| 7 | g.41965860C>T | CA454661776 | GLI3 | c.3213G>A (p.Glu1071=) c.3039G>A (p.Glu1013=) n.3190G>A c.3036G>A (p.Glu1012=) c.3210G>A (p.Glu1070=) | gnomAD v4 |
| 7 | g.41965861T>A | CA367318929 | GLI3 | c.3212A>T (p.Glu1071Val) c.3038A>T (p.Glu1013Val) n.3189A>T c.3035A>T (p.Glu1012Val) c.3209A>T (p.Glu1070Val) | |
| 7 | g.41965861T>C | CA367318930 | GLI3 | c.3212A>G (p.Glu1071Gly) c.3038A>G (p.Glu1013Gly) n.3189A>G c.3035A>G (p.Glu1012Gly) c.3209A>G (p.Glu1070Gly) | |
| 7 | g.41965861T>G | CA367318931 | GLI3 | c.3212A>C (p.Glu1071Ala) c.3038A>C (p.Glu1013Ala) n.3189A>C c.3035A>C (p.Glu1012Ala) c.3209A>C (p.Glu1070Ala) | |
| 7 | g.41965862C>A | CA367318932 | GLI3 | c.3211G>T (p.Glu1071Ter) c.3037G>T (p.Glu1013Ter) n.3188G>T c.3034G>T (p.Glu1012Ter) c.3208G>T (p.Glu1070Ter) | |
| 7 | g.41965862C= | CA1702660972 | GLI3 | c.3211G= (p.Glu1071=) c.3037G= (p.Glu1013=) n.3188G= c.3034G= (p.Glu1012=) c.3208G= (p.Glu1070=) | |
| 7 | g.41965862C>G | CA367318933 | GLI3 | c.3211G>C (p.Glu1071Gln) c.3037G>C (p.Glu1013Gln) n.3188G>C c.3034G>C (p.Glu1012Gln) c.3208G>C (p.Glu1070Gln) | |
| 7 | g.41965862C>T | CA367318934 | GLI3 | c.3211G>A (p.Glu1071Lys) c.3037G>A (p.Glu1013Lys) n.3188G>A c.3034G>A (p.Glu1012Lys) c.3208G>A (p.Glu1070Lys) | dbSNP gnomAD v4 |
| 7 | g.41965863G>A | CA156904454 | GLI3 | c.3210C>T (p.Thr1070=) c.3036C>T (p.Thr1012=) n.3187C>T c.3033C>T (p.Thr1011=) c.3207C>T (p.Thr1069=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41965863G>C | CA454661777 | GLI3 | c.3210C>G (p.Thr1070=) c.3036C>G (p.Thr1012=) n.3187C>G c.3033C>G (p.Thr1011=) c.3207C>G (p.Thr1069=) | |
| 7 | g.41965863G= | CA1702660973 | GLI3 | c.3210C= (p.Thr1070=) c.3036C= (p.Thr1012=) n.3187C= c.3033C= (p.Thr1011=) c.3207C= (p.Thr1069=) | |
| 7 | g.41965863G>T | CA156904448 | GLI3 | c.3210C>A (p.Thr1070=) c.3036C>A (p.Thr1012=) n.3187C>A c.3033C>A (p.Thr1011=) c.3207C>A (p.Thr1069=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965864G>A | CA367318937 | GLI3 | c.3209C>T (p.Thr1070Ile) c.3035C>T (p.Thr1012Ile) n.3186C>T c.3032C>T (p.Thr1011Ile) c.3206C>T (p.Thr1069Ile) | gnomAD v4 |
| 7 | g.41965864G>C | CA367318936 | GLI3 | c.3209C>G (p.Thr1070Ser) c.3035C>G (p.Thr1012Ser) n.3186C>G c.3032C>G (p.Thr1011Ser) c.3206C>G (p.Thr1069Ser) | dbSNP gnomAD v4 |
| 7 | g.41965864G= | CA1702660974 | GLI3 | c.3209C= (p.Thr1070=) c.3035C= (p.Thr1012=) n.3186C= c.3032C= (p.Thr1011=) c.3206C= (p.Thr1069=) | |
| 7 | g.41965864G>T | CA367318935 | GLI3 | c.3209C>A (p.Thr1070Asn) c.3035C>A (p.Thr1012Asn) n.3186C>A c.3032C>A (p.Thr1011Asn) c.3206C>A (p.Thr1069Asn) | |
| 7 | g.41965865T>A | CA4230419 | GLI3 | c.3208A>T (p.Thr1070Ser) c.3034A>T (p.Thr1012Ser) n.3185A>T c.3031A>T (p.Thr1011Ser) c.3205A>T (p.Thr1069Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965865T>C | CA367318939 | GLI3 | c.3208A>G (p.Thr1070Ala) c.3034A>G (p.Thr1012Ala) n.3185A>G c.3031A>G (p.Thr1011Ala) c.3205A>G (p.Thr1069Ala) | |
| 7 | g.41965865T>G | CA367318938 | GLI3 | c.3208A>C (p.Thr1070Pro) c.3034A>C (p.Thr1012Pro) n.3185A>C c.3031A>C (p.Thr1011Pro) c.3205A>C (p.Thr1069Pro) | |
| 7 | g.41965865T= | CA1702660975 | GLI3 | c.3208A= (p.Thr1070=) c.3034A= (p.Thr1012=) n.3185A= c.3031A= (p.Thr1011=) c.3205A= (p.Thr1069=) | |
| 7 | g.41965866G>A | CA454661778 | GLI3 | c.3207C>T (p.Ile1069=) c.3033C>T (p.Ile1011=) n.3184C>T c.3030C>T (p.Ile1010=) c.3204C>T (p.Ile1068=) | |
| 7 | g.41965866G>C | CA367318940 | GLI3 | c.3207C>G (p.Ile1069Met) c.3033C>G (p.Ile1011Met) n.3184C>G c.3030C>G (p.Ile1010Met) c.3204C>G (p.Ile1068Met) | |
| 7 | g.41965866G>T | CA454661779 | GLI3 | c.3207C>A (p.Ile1069=) c.3033C>A (p.Ile1011=) n.3184C>A c.3030C>A (p.Ile1010=) c.3204C>A (p.Ile1068=) | COSMIC |
| 7 | g.41965867A>C | CA367318941 | GLI3 | c.3206T>G (p.Ile1069Ser) c.3032T>G (p.Ile1011Ser) n.3183T>G c.3029T>G (p.Ile1010Ser) c.3203T>G (p.Ile1068Ser) | |
| 7 | g.41965867A>G | CA367318942 | GLI3 | c.3206T>C (p.Ile1069Thr) c.3032T>C (p.Ile1011Thr) n.3183T>C c.3029T>C (p.Ile1010Thr) c.3203T>C (p.Ile1068Thr) | gnomAD v4 |
| 7 | g.41965867A>T | CA367318943 | GLI3 | c.3206T>A (p.Ile1069Asn) c.3032T>A (p.Ile1011Asn) n.3183T>A c.3029T>A (p.Ile1010Asn) c.3203T>A (p.Ile1068Asn) | |
| 7 | g.41965868T>A | CA367318944 | GLI3 | c.3205A>T (p.Ile1069Phe) c.3031A>T (p.Ile1011Phe) n.3182A>T c.3028A>T (p.Ile1010Phe) c.3202A>T (p.Ile1068Phe) | |
| 7 | g.41965868T>C | CA367318945 | GLI3 | c.3205A>G (p.Ile1069Val) c.3031A>G (p.Ile1011Val) n.3182A>G c.3028A>G (p.Ile1010Val) c.3202A>G (p.Ile1068Val) | gnomAD v4 |
| 7 | g.41965868T>G | CA367318946 | GLI3 | c.3205A>C (p.Ile1069Leu) c.3031A>C (p.Ile1011Leu) n.3182A>C c.3028A>C (p.Ile1010Leu) c.3202A>C (p.Ile1068Leu) | |
| 7 | g.41965869G>A | CA454661780 | GLI3 | c.3204C>T (p.Ser1068=) c.3030C>T (p.Ser1010=) n.3181C>T c.3027C>T (p.Ser1009=) c.3201C>T (p.Ser1067=) | dbSNP gnomAD v4 |
| 7 | g.41965869G>C | CA367318947 | GLI3 | c.3204C>G (p.Ser1068Arg) c.3030C>G (p.Ser1010Arg) n.3181C>G c.3027C>G (p.Ser1009Arg) c.3201C>G (p.Ser1067Arg) | |
| 7 | g.41965869G= | CA1702660976 | GLI3 | c.3204C= (p.Ser1068=) c.3030C= (p.Ser1010=) n.3181C= c.3027C= (p.Ser1009=) c.3201C= (p.Ser1067=) | |
| 7 | g.41965869G>T | CA367318948 | GLI3 | c.3204C>A (p.Ser1068Arg) c.3030C>A (p.Ser1010Arg) n.3181C>A c.3027C>A (p.Ser1009Arg) c.3201C>A (p.Ser1067Arg) | |
| 7 | g.41965870C>A | CA367318949 | GLI3 | c.3203G>T (p.Ser1068Ile) c.3029G>T (p.Ser1010Ile) n.3180G>T c.3026G>T (p.Ser1009Ile) c.3200G>T (p.Ser1067Ile) | |
| 7 | g.41965870C= | CA1702660977 | GLI3 | c.3203G= (p.Ser1068=) c.3029G= (p.Ser1010=) n.3180G= c.3026G= (p.Ser1009=) c.3200G= (p.Ser1067=) | |
| 7 | g.41965870C>G | CA4230420 | GLI3 | c.3203G>C (p.Ser1068Thr) c.3029G>C (p.Ser1010Thr) n.3180G>C c.3026G>C (p.Ser1009Thr) c.3200G>C (p.Ser1067Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965870C>T | CA367318950 | GLI3 | c.3203G>A (p.Ser1068Asn) c.3029G>A (p.Ser1010Asn) n.3180G>A c.3026G>A (p.Ser1009Asn) c.3200G>A (p.Ser1067Asn) | |
| 7 | g.41965871T>A | CA367318953 | GLI3 | c.3202A>T (p.Ser1068Cys) c.3028A>T (p.Ser1010Cys) n.3179A>T c.3025A>T (p.Ser1009Cys) c.3199A>T (p.Ser1067Cys) | |
| 7 | g.41965871T>C | CA367318951 | GLI3 | c.3202A>G (p.Ser1068Gly) c.3028A>G (p.Ser1010Gly) n.3179A>G c.3025A>G (p.Ser1009Gly) c.3199A>G (p.Ser1067Gly) | |
| 7 | g.41965871T>G | CA367318952 | GLI3 | c.3202A>C (p.Ser1068Arg) c.3028A>C (p.Ser1010Arg) n.3179A>C c.3025A>C (p.Ser1009Arg) c.3199A>C (p.Ser1067Arg) | |
| 7 | g.41965872G>A | CA454661781 | GLI3 | c.3201C>T (p.Pro1067=) c.3027C>T (p.Pro1009=) n.3178C>T c.3024C>T (p.Pro1008=) c.3198C>T (p.Pro1066=) | |
| 7 | g.41965872G>C | CA454661782 | GLI3 | c.3201C>G (p.Pro1067=) c.3027C>G (p.Pro1009=) n.3178C>G c.3024C>G (p.Pro1008=) c.3198C>G (p.Pro1066=) | |
| 7 | g.41965872G>T | CA454661783 | GLI3 | c.3201C>A (p.Pro1067=) c.3027C>A (p.Pro1009=) n.3178C>A c.3024C>A (p.Pro1008=) c.3198C>A (p.Pro1066=) | |
| 7 | g.41965873G>A | CA367318954 | GLI3 | c.3200C>T (p.Pro1067Leu) c.3026C>T (p.Pro1009Leu) n.3177C>T c.3023C>T (p.Pro1008Leu) c.3197C>T (p.Pro1066Leu) | |
| 7 | g.41965873G>C | CA367318955 | GLI3 | c.3200C>G (p.Pro1067Arg) c.3026C>G (p.Pro1009Arg) n.3177C>G c.3023C>G (p.Pro1008Arg) c.3197C>G (p.Pro1066Arg) | |
| 7 | g.41965873G>T | CA367318956 | GLI3 | c.3200C>A (p.Pro1067His) c.3026C>A (p.Pro1009His) n.3177C>A c.3023C>A (p.Pro1008His) c.3197C>A (p.Pro1066His) | |
| 7 | g.41965874G>A | CA367318957 | GLI3 | c.3199C>T (p.Pro1067Ser) c.3025C>T (p.Pro1009Ser) n.3176C>T c.3022C>T (p.Pro1008Ser) c.3196C>T (p.Pro1066Ser) | |
| 7 | g.41965874G>C | CA367318958 | GLI3 | c.3199C>G (p.Pro1067Ala) c.3025C>G (p.Pro1009Ala) n.3176C>G c.3022C>G (p.Pro1008Ala) c.3196C>G (p.Pro1066Ala) | |
| 7 | g.41965874G>T | CA367318959 | GLI3 | c.3199C>A (p.Pro1067Thr) c.3025C>A (p.Pro1009Thr) n.3176C>A c.3022C>A (p.Pro1008Thr) c.3196C>A (p.Pro1066Thr) | |
| 7 | g.41965875A>C | CA454661784 | GLI3 | c.3198T>G (p.Pro1066=) c.3024T>G (p.Pro1008=) n.3175T>G c.3021T>G (p.Pro1007=) c.3195T>G (p.Pro1065=) | |
| 7 | g.41965875A>G | CA454661785 | GLI3 | c.3198T>C (p.Pro1066=) c.3024T>C (p.Pro1008=) n.3175T>C c.3021T>C (p.Pro1007=) c.3195T>C (p.Pro1065=) | |
| 7 | g.41965875A>T | CA454661786 | GLI3 | c.3198T>A (p.Pro1066=) c.3024T>A (p.Pro1008=) n.3175T>A c.3021T>A (p.Pro1007=) c.3195T>A (p.Pro1065=) | |
| 7 | g.41965876G>A | CA367318960 | GLI3 | c.3197C>T (p.Pro1066Leu) c.3023C>T (p.Pro1008Leu) n.3174C>T c.3020C>T (p.Pro1007Leu) c.3194C>T (p.Pro1065Leu) | |
| 7 | g.41965876G>C | CA367318961 | GLI3 | c.3197C>G (p.Pro1066Arg) c.3023C>G (p.Pro1008Arg) n.3174C>G c.3020C>G (p.Pro1007Arg) c.3194C>G (p.Pro1065Arg) | |
| 7 | g.41965876G>T | CA367318962 | GLI3 | c.3197C>A (p.Pro1066His) c.3023C>A (p.Pro1008His) n.3174C>A c.3020C>A (p.Pro1007His) c.3194C>A (p.Pro1065His) | |
| 7 | g.41965877G>A | CA367318963 | GLI3 | c.3196C>T (p.Pro1066Ser) c.3022C>T (p.Pro1008Ser) n.3173C>T c.3019C>T (p.Pro1007Ser) c.3193C>T (p.Pro1065Ser) | |
| 7 | g.41965877G>C | CA367318964 | GLI3 | c.3196C>G (p.Pro1066Ala) c.3022C>G (p.Pro1008Ala) n.3173C>G c.3019C>G (p.Pro1007Ala) c.3193C>G (p.Pro1065Ala) | |
| 7 | g.41965877G>T | CA367318965 | GLI3 | c.3196C>A (p.Pro1066Thr) c.3022C>A (p.Pro1008Thr) n.3173C>A c.3019C>A (p.Pro1007Thr) c.3193C>A (p.Pro1065Thr) | |
| 7 | g.41965878A>C | CA367318966 | GLI3 | c.3195T>G (p.Cys1065Trp) c.3021T>G (p.Cys1007Trp) n.3172T>G c.3018T>G (p.Cys1006Trp) c.3192T>G (p.Cys1064Trp) | |
| 7 | g.41965878A>G | CA454661787 | GLI3 | c.3195T>C (p.Cys1065=) c.3021T>C (p.Cys1007=) n.3172T>C c.3018T>C (p.Cys1006=) c.3192T>C (p.Cys1064=) | |
| 7 | g.41965878A>T | CA367318967 | GLI3 | c.3195T>A (p.Cys1065Ter) c.3021T>A (p.Cys1007Ter) n.3172T>A c.3018T>A (p.Cys1006Ter) c.3192T>A (p.Cys1064Ter) | |
| 7 | g.41965879C>A | CA367318968 | GLI3 | c.3194G>T (p.Cys1065Phe) c.3020G>T (p.Cys1007Phe) n.3171G>T c.3017G>T (p.Cys1006Phe) c.3191G>T (p.Cys1064Phe) | |
| 7 | g.41965879C= | CA1702660978 | GLI3 | c.3194G= (p.Cys1065=) c.3020G= (p.Cys1007=) n.3171G= c.3017G= (p.Cys1006=) c.3191G= (p.Cys1064=) | |
| 7 | g.41965879C>G | CA367318969 | GLI3 | c.3194G>C (p.Cys1065Ser) c.3020G>C (p.Cys1007Ser) n.3171G>C c.3017G>C (p.Cys1006Ser) c.3191G>C (p.Cys1064Ser) | |
| 7 | g.41965879C>T | CA4230421 | GLI3 | c.3194G>A (p.Cys1065Tyr) c.3020G>A (p.Cys1007Tyr) n.3171G>A c.3017G>A (p.Cys1006Tyr) c.3191G>A (p.Cys1064Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965880A>C | CA367318970 | GLI3 | c.3193T>G (p.Cys1065Gly) c.3019T>G (p.Cys1007Gly) n.3170T>G c.3016T>G (p.Cys1006Gly) c.3190T>G (p.Cys1064Gly) | |
| 7 | g.41965880A>G | CA367318971 | GLI3 | c.3193T>C (p.Cys1065Arg) c.3019T>C (p.Cys1007Arg) n.3170T>C c.3016T>C (p.Cys1006Arg) c.3190T>C (p.Cys1064Arg) | |
| 7 | g.41965880A>T | CA367318972 | GLI3 | c.3193T>A (p.Cys1065Ser) c.3019T>A (p.Cys1007Ser) n.3170T>A c.3016T>A (p.Cys1006Ser) c.3190T>A (p.Cys1064Ser) | |
| 7 | g.41965881G>A | CA4230422 | GLI3 | c.3192C>T (p.Pro1064=) c.3018C>T (p.Pro1006=) n.3169C>T c.3015C>T (p.Pro1005=) c.3189C>T (p.Pro1063=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41965881G>C | CA454661788 | GLI3 | c.3192C>G (p.Pro1064=) c.3018C>G (p.Pro1006=) n.3169C>G c.3015C>G (p.Pro1005=) c.3189C>G (p.Pro1063=) | |
| 7 | g.41965881G= | CA1702660979 | GLI3 | c.3192C= (p.Pro1064=) c.3018C= (p.Pro1006=) n.3169C= c.3015C= (p.Pro1005=) c.3189C= (p.Pro1063=) | |
| 7 | g.41965881G>T | CA454661789 | GLI3 | c.3192C>A (p.Pro1064=) c.3018C>A (p.Pro1006=) n.3169C>A c.3015C>A (p.Pro1005=) c.3189C>A (p.Pro1063=) | |
| 7 | g.41965885del | CA454661790 | GLI3 | c.3192del (p.Cys1065ValfsTer14) c.3018del (p.Cys1007ValfsTer14) n.3169del c.3015del (p.Cys1006ValfsTer14) c.3189del (p.Cys1064ValfsTer14) | COSMIC |
| 7 | g.41965882G>A | CA367318973 | GLI3 | c.3191C>T (p.Pro1064Leu) c.3017C>T (p.Pro1006Leu) n.3168C>T c.3014C>T (p.Pro1005Leu) c.3188C>T (p.Pro1063Leu) | gnomAD v4 |
| 7 | g.41965882G>C | CA367318974 | GLI3 | c.3191C>G (p.Pro1064Arg) c.3017C>G (p.Pro1006Arg) n.3168C>G c.3014C>G (p.Pro1005Arg) c.3188C>G (p.Pro1063Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41965882G= | CA1702660980 | GLI3 | c.3191C= (p.Pro1064=) c.3017C= (p.Pro1006=) n.3168C= c.3014C= (p.Pro1005=) c.3188C= (p.Pro1063=) | |
| 7 | g.41965882G>T | CA367318975 | GLI3 | c.3191C>A (p.Pro1064His) c.3017C>A (p.Pro1006His) n.3168C>A c.3014C>A (p.Pro1005His) c.3188C>A (p.Pro1063His) | |
| 7 | g.41965883G>A | CA4230423 | GLI3 | c.3190C>T (p.Pro1064Ser) c.3016C>T (p.Pro1006Ser) n.3167C>T c.3013C>T (p.Pro1005Ser) c.3187C>T (p.Pro1063Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965883G>C | CA367318976 | GLI3 | c.3190C>G (p.Pro1064Ala) c.3016C>G (p.Pro1006Ala) n.3167C>G c.3013C>G (p.Pro1005Ala) c.3187C>G (p.Pro1063Ala) | gnomAD v4 |
| 7 | g.41965883G= | CA1702660981 | GLI3 | c.3190C= (p.Pro1064=) c.3016C= (p.Pro1006=) n.3167C= c.3013C= (p.Pro1005=) c.3187C= (p.Pro1063=) | |
| 7 | g.41965883G>T | CA367318977 | GLI3 | c.3190C>A (p.Pro1064Thr) c.3016C>A (p.Pro1006Thr) n.3167C>A c.3013C>A (p.Pro1005Thr) c.3187C>A (p.Pro1063Thr) | |
| 7 | g.41965884G>A | CA454661791 | GLI3 | c.3189C>T (p.Ser1063=) c.3015C>T (p.Ser1005=) n.3166C>T c.3012C>T (p.Ser1004=) c.3186C>T (p.Ser1062=) | |
| 7 | g.41965884G>C | CA454661793 | GLI3 | c.3189C>G (p.Ser1063=) c.3015C>G (p.Ser1005=) n.3166C>G c.3012C>G (p.Ser1004=) c.3186C>G (p.Ser1062=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965884G= | CA1702660982 | GLI3 | c.3189C= (p.Ser1063=) c.3015C= (p.Ser1005=) n.3166C= c.3012C= (p.Ser1004=) c.3186C= (p.Ser1062=) | |
| 7 | g.41965884G>T | CA454661792 | GLI3 | c.3189C>A (p.Ser1063=) c.3015C>A (p.Ser1005=) n.3166C>A c.3012C>A (p.Ser1004=) c.3186C>A (p.Ser1062=) | |
| 7 | g.41965885G>A | CA367318980 | GLI3 | c.3188C>T (p.Ser1063Phe) c.3014C>T (p.Ser1005Phe) n.3165C>T c.3011C>T (p.Ser1004Phe) c.3185C>T (p.Ser1062Phe) | dbSNP gnomAD v4 |
| 7 | g.41965885G>C | CA367318978 | GLI3 | c.3188C>G (p.Ser1063Cys) c.3014C>G (p.Ser1005Cys) n.3165C>G c.3011C>G (p.Ser1004Cys) c.3185C>G (p.Ser1062Cys) | |
| 7 | g.41965885G= | CA1702660983 | GLI3 | c.3188C= (p.Ser1063=) c.3014C= (p.Ser1005=) n.3165C= c.3011C= (p.Ser1004=) c.3185C= (p.Ser1062=) | |
| 7 | g.41965885G>T | CA367318979 | GLI3 | c.3188C>A (p.Ser1063Tyr) c.3014C>A (p.Ser1005Tyr) n.3165C>A c.3011C>A (p.Ser1004Tyr) c.3185C>A (p.Ser1062Tyr) | |
| 7 | g.41965886A>C | CA367318981 | GLI3 | c.3187T>G (p.Ser1063Ala) c.3013T>G (p.Ser1005Ala) n.3164T>G c.3010T>G (p.Ser1004Ala) c.3184T>G (p.Ser1062Ala) | gnomAD v4 |
| 7 | g.41965886A>G | CA367318982 | GLI3 | c.3187T>C (p.Ser1063Pro) c.3013T>C (p.Ser1005Pro) n.3164T>C c.3010T>C (p.Ser1004Pro) c.3184T>C (p.Ser1062Pro) | |
| 7 | g.41965886A>T | CA367318983 | GLI3 | c.3187T>A (p.Ser1063Thr) c.3013T>A (p.Ser1005Thr) n.3164T>A c.3010T>A (p.Ser1004Thr) c.3184T>A (p.Ser1062Thr) | |
| 7 | g.41965887C>A | CA156904490 | GLI3 | c.3186G>T (p.Ser1062=) c.3012G>T (p.Ser1004=) n.3163G>T c.3009G>T (p.Ser1003=) c.3183G>T (p.Ser1061=) | dbSNP gnomAD v4 |
| 7 | g.41965887C= | CA1702660984 | GLI3 | c.3186G= (p.Ser1062=) c.3012G= (p.Ser1004=) n.3163G= c.3009G= (p.Ser1003=) c.3183G= (p.Ser1061=) | |
| 7 | g.41965887C>G | CA454661794 | GLI3 | c.3186G>C (p.Ser1062=) c.3012G>C (p.Ser1004=) n.3163G>C c.3009G>C (p.Ser1003=) c.3183G>C (p.Ser1061=) | |
| 7 | g.41965887C>T | CA4230424 | GLI3 | c.3186G>A (p.Ser1062=) c.3012G>A (p.Ser1004=) n.3163G>A c.3009G>A (p.Ser1003=) c.3183G>A (p.Ser1061=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41965888G>A | CA156904501 | GLI3 | c.3185C>T (p.Ser1062Leu) c.3011C>T (p.Ser1004Leu) n.3162C>T c.3008C>T (p.Ser1003Leu) c.3182C>T (p.Ser1061Leu) | dbSNP gnomAD v4 COSMIC |
| 7 | g.41965888G>C | CA367318984 | GLI3 | c.3185C>G (p.Ser1062Trp) c.3011C>G (p.Ser1004Trp) n.3162C>G c.3008C>G (p.Ser1003Trp) c.3182C>G (p.Ser1061Trp) | dbSNP |
| 7 | g.41965888G= | CA1702660985 | GLI3 | c.3185C= (p.Ser1062=) c.3011C= (p.Ser1004=) n.3162C= c.3008C= (p.Ser1003=) c.3182C= (p.Ser1061=) | |
| 7 | g.41965888G>T | CA367318985 | GLI3 | c.3185C>A (p.Ser1062Ter) c.3011C>A (p.Ser1004Ter) n.3162C>A c.3008C>A (p.Ser1003Ter) c.3182C>A (p.Ser1061Ter) | |
| 7 | g.41965889A>C | CA367318986 | GLI3 | c.3184T>G (p.Ser1062Ala) c.3010T>G (p.Ser1004Ala) n.3161T>G c.3007T>G (p.Ser1003Ala) c.3181T>G (p.Ser1061Ala) | |
| 7 | g.41965889A>G | CA367318987 | GLI3 | c.3184T>C (p.Ser1062Pro) c.3010T>C (p.Ser1004Pro) n.3161T>C c.3007T>C (p.Ser1003Pro) c.3181T>C (p.Ser1061Pro) | |
| 7 | g.41965889A>T | CA367318988 | GLI3 | c.3184T>A (p.Ser1062Thr) c.3010T>A (p.Ser1004Thr) n.3161T>A c.3007T>A (p.Ser1003Thr) c.3181T>A (p.Ser1061Thr) | |
| 7 | g.41965890G>A | CA454661795 | GLI3 | c.3183C>T (p.His1061=) c.3009C>T (p.His1003=) n.3160C>T c.3006C>T (p.His1002=) c.3180C>T (p.His1060=) | COSMIC |
| 7 | g.41965890G>C | CA4230425 | GLI3 | c.3183C>G (p.His1061Gln) c.3009C>G (p.His1003Gln) n.3160C>G c.3006C>G (p.His1002Gln) c.3180C>G (p.His1060Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965890G= | CA1702660986 | GLI3 | c.3183C= (p.His1061=) c.3009C= (p.His1003=) n.3160C= c.3006C= (p.His1002=) c.3180C= (p.His1060=) | |
| 7 | g.41965890G>T | CA367318989 | GLI3 | c.3183C>A (p.His1061Gln) c.3009C>A (p.His1003Gln) n.3160C>A c.3006C>A (p.His1002Gln) c.3180C>A (p.His1060Gln) | |
| 7 | g.41965891T>A | CA367318992 | GLI3 | c.3182A>T (p.His1061Leu) c.3008A>T (p.His1003Leu) n.3159A>T c.3005A>T (p.His1002Leu) c.3179A>T (p.His1060Leu) | |
| 7 | g.41965891T>C | CA367318991 | GLI3 | c.3182A>G (p.His1061Arg) c.3008A>G (p.His1003Arg) n.3159A>G c.3005A>G (p.His1002Arg) c.3179A>G (p.His1060Arg) | |
| 7 | g.41965891T>G | CA367318990 | GLI3 | c.3182A>C (p.His1061Pro) c.3008A>C (p.His1003Pro) n.3159A>C c.3005A>C (p.His1002Pro) c.3179A>C (p.His1060Pro) | |
| 7 | g.41965892G>A | CA367318993 | GLI3 | c.3181C>T (p.His1061Tyr) c.3007C>T (p.His1003Tyr) n.3158C>T c.3004C>T (p.His1002Tyr) c.3178C>T (p.His1060Tyr) | COSMIC |
| 7 | g.41965892G>C | CA367318995 | GLI3 | c.3181C>G (p.His1061Asp) c.3007C>G (p.His1003Asp) n.3158C>G c.3004C>G (p.His1002Asp) c.3178C>G (p.His1060Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965892G= | CA1702660987 | GLI3 | c.3181C= (p.His1061=) c.3007C= (p.His1003=) n.3158C= c.3004C= (p.His1002=) c.3178C= (p.His1060=) | |
| 7 | g.41965892G>T | CA367318994 | GLI3 | c.3181C>A (p.His1061Asn) c.3007C>A (p.His1003Asn) n.3158C>A c.3004C>A (p.His1002Asn) c.3178C>A (p.His1060Asn) | |
| 7 | g.41965893G>A | CA454661796 | GLI3 | c.3180C>T (p.Phe1060=) c.3006C>T (p.Phe1002=) n.3157C>T c.3003C>T (p.Phe1001=) c.3177C>T (p.Phe1059=) | gnomAD v4 |
| 7 | g.41965893G>C | CA367318996 | GLI3 | c.3180C>G (p.Phe1060Leu) c.3006C>G (p.Phe1002Leu) n.3157C>G c.3003C>G (p.Phe1001Leu) c.3177C>G (p.Phe1059Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41965893G= | CA1702660988 | GLI3 | c.3180C= (p.Phe1060=) c.3006C= (p.Phe1002=) n.3157C= c.3003C= (p.Phe1001=) c.3177C= (p.Phe1059=) | |
| 7 | g.41965893G>T | CA367318997 | GLI3 | c.3180C>A (p.Phe1060Leu) c.3006C>A (p.Phe1002Leu) n.3157C>A c.3003C>A (p.Phe1001Leu) c.3177C>A (p.Phe1059Leu) | |
| 7 | g.41965894A= | CA1702660989 | GLI3 | c.3179T= (p.Phe1060=) c.3005T= (p.Phe1002=) n.3156T= c.3002T= (p.Phe1001=) c.3176T= (p.Phe1059=) | |
| 7 | g.41965894A>C | CA367318998 | GLI3 | c.3179T>G (p.Phe1060Cys) c.3005T>G (p.Phe1002Cys) n.3156T>G c.3002T>G (p.Phe1001Cys) c.3176T>G (p.Phe1059Cys) | |
| 7 | g.41965894A>G | CA367318999 | GLI3 | c.3179T>C (p.Phe1060Ser) c.3005T>C (p.Phe1002Ser) n.3156T>C c.3002T>C (p.Phe1001Ser) c.3176T>C (p.Phe1059Ser) | gnomAD v4 |
| 7 | g.41965894A>T | CA4230426 | GLI3 | c.3179T>A (p.Phe1060Tyr) c.3005T>A (p.Phe1002Tyr) n.3156T>A c.3002T>A (p.Phe1001Tyr) c.3176T>A (p.Phe1059Tyr) | dbSNP ExAC gnomAD v2 |
| 7 | g.41965895A>C | CA367319000 | GLI3 | c.3178T>G (p.Phe1060Val) c.3004T>G (p.Phe1002Val) n.3155T>G c.3001T>G (p.Phe1001Val) c.3175T>G (p.Phe1059Val) | |
| 7 | g.41965895A>G | CA367319001 | GLI3 | c.3178T>C (p.Phe1060Leu) c.3004T>C (p.Phe1002Leu) n.3155T>C c.3001T>C (p.Phe1001Leu) c.3175T>C (p.Phe1059Leu) | |
| 7 | g.41965895A>T | CA367319002 | GLI3 | c.3178T>A (p.Phe1060Ile) c.3004T>A (p.Phe1002Ile) n.3155T>A c.3001T>A (p.Phe1001Ile) c.3175T>A (p.Phe1059Ile) | |
| 7 | g.41965896G>A | CA454661797 | GLI3 | c.3177C>T (p.Asn1059=) c.3003C>T (p.Asn1001=) n.3154C>T c.3000C>T (p.Asn1000=) c.3174C>T (p.Asn1058=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965896G>C | CA367319003 | GLI3 | c.3177C>G (p.Asn1059Lys) c.3003C>G (p.Asn1001Lys) n.3154C>G c.3000C>G (p.Asn1000Lys) c.3174C>G (p.Asn1058Lys) | gnomAD v4 |
| 7 | g.41965896G= | CA1702660990 | GLI3 | c.3177C= (p.Asn1059=) c.3003C= (p.Asn1001=) n.3154C= c.3000C= (p.Asn1000=) c.3174C= (p.Asn1058=) | |
| 7 | g.41965896G>T | CA367319004 | GLI3 | c.3177C>A (p.Asn1059Lys) c.3003C>A (p.Asn1001Lys) n.3154C>A c.3000C>A (p.Asn1000Lys) c.3174C>A (p.Asn1058Lys) | |
| 7 | g.41965897T>A | CA367319005 | GLI3 | c.3176A>T (p.Asn1059Ile) c.3002A>T (p.Asn1001Ile) n.3153A>T c.2999A>T (p.Asn1000Ile) c.3173A>T (p.Asn1058Ile) | |
| 7 | g.41965897T>C | CA367319006 | GLI3 | c.3176A>G (p.Asn1059Ser) c.3002A>G (p.Asn1001Ser) n.3153A>G c.2999A>G (p.Asn1000Ser) c.3173A>G (p.Asn1058Ser) | |
| 7 | g.41965897T>G | CA367319007 | GLI3 | c.3176A>C (p.Asn1059Thr) c.3002A>C (p.Asn1001Thr) n.3153A>C c.2999A>C (p.Asn1000Thr) c.3173A>C (p.Asn1058Thr) | gnomAD v4 |
| 7 | g.41965898T>A | CA367319010 | GLI3 | c.3175A>T (p.Asn1059Tyr) c.3001A>T (p.Asn1001Tyr) n.3152A>T c.2998A>T (p.Asn1000Tyr) c.3172A>T (p.Asn1058Tyr) | |
| 7 | g.41965898T>C | CA367319009 | GLI3 | c.3175A>G (p.Asn1059Asp) c.3001A>G (p.Asn1001Asp) n.3152A>G c.2998A>G (p.Asn1000Asp) c.3172A>G (p.Asn1058Asp) | |
| 7 | g.41965898T>G | CA367319008 | GLI3 | c.3175A>C (p.Asn1059His) c.3001A>C (p.Asn1001His) n.3152A>C c.2998A>C (p.Asn1000His) c.3172A>C (p.Asn1058His) |