Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.41966082C>A | CA454661993 | GLI3 | c.2991G>T (p.Ala997=) c.2817G>T (p.Ala939=) n.2968G>T c.2814G>T (p.Ala938=) c.2988G>T (p.Ala996=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.41966082C= | CA1702661103 | GLI3 | c.2991G= (p.Ala997=) c.2817G= (p.Ala939=) n.2968G= c.2814G= (p.Ala938=) c.2988G= (p.Ala996=) | |
7 | g.41966082C>G | CA454661994 | GLI3 | c.2991G>C (p.Ala997=) c.2817G>C (p.Ala939=) n.2968G>C c.2814G>C (p.Ala938=) c.2988G>C (p.Ala996=) | |
7 | g.41966082C>T | CA4230481 | GLI3 | c.2991G>A (p.Ala997=) c.2817G>A (p.Ala939=) n.2968G>A c.2814G>A (p.Ala938=) c.2988G>A (p.Ala996=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41966083G>A | CA367319574 | GLI3 | c.2990C>T (p.Ala997Val) c.2816C>T (p.Ala939Val) n.2967C>T c.2813C>T (p.Ala938Val) c.2987C>T (p.Ala996Val) | gnomAD v4 COSMIC |
7 | g.41966083G>C | CA367319572 | GLI3 | c.2990C>G (p.Ala997Gly) c.2816C>G (p.Ala939Gly) n.2967C>G c.2813C>G (p.Ala938Gly) c.2987C>G (p.Ala996Gly) | |
7 | g.41966083G= | CA1702661104 | GLI3 | c.2990C= (p.Ala997=) c.2816C= (p.Ala939=) n.2967C= c.2813C= (p.Ala938=) c.2987C= (p.Ala996=) | |
7 | g.41966083G>T | CA4230482 | GLI3 | c.2990C>A (p.Ala997Glu) c.2816C>A (p.Ala939Glu) n.2967C>A c.2813C>A (p.Ala938Glu) c.2987C>A (p.Ala996Glu) | dbSNP ExAC gnomAD v4 |
7 | g.41966084C>A | CA367319577 | GLI3 | c.2989G>T (p.Ala997Ser) c.2815G>T (p.Ala939Ser) n.2966G>T c.2812G>T (p.Ala938Ser) c.2986G>T (p.Ala996Ser) | gnomAD v4 |
7 | g.41966084C>G | CA367319579 | GLI3 | c.2989G>C (p.Ala997Pro) c.2815G>C (p.Ala939Pro) n.2966G>C c.2812G>C (p.Ala938Pro) c.2986G>C (p.Ala996Pro) | |
7 | g.41966084C>T | CA367319582 | GLI3 | c.2989G>A (p.Ala997Thr) c.2815G>A (p.Ala939Thr) n.2966G>A c.2812G>A (p.Ala938Thr) c.2986G>A (p.Ala996Thr) | |
7 | g.41966085A= | CA1702661105 | GLI3 | c.2988T= (p.Asp996=) c.2814T= (p.Asp938=) n.2965T= c.2811T= (p.Asp937=) c.2985T= (p.Asp995=) | |
7 | g.41966085A>C | CA367319584 | GLI3 | c.2988T>G (p.Asp996Glu) c.2814T>G (p.Asp938Glu) n.2965T>G c.2811T>G (p.Asp937Glu) c.2985T>G (p.Asp995Glu) | |
7 | g.41966085A>G | CA454661998 | GLI3 | c.2988T>C (p.Asp996=) c.2814T>C (p.Asp938=) n.2965T>C c.2811T>C (p.Asp937=) c.2985T>C (p.Asp995=) | gnomAD v4 |
7 | g.41966085A>T | CA156904903 | GLI3 | c.2988T>A (p.Asp996Glu) c.2814T>A (p.Asp938Glu) n.2965T>A c.2811T>A (p.Asp937Glu) c.2985T>A (p.Asp995Glu) | dbSNP gnomAD v4 |
7 | g.41966086T>A | CA367319589 | GLI3 | c.2987A>T (p.Asp996Val) c.2813A>T (p.Asp938Val) n.2964A>T c.2810A>T (p.Asp937Val) c.2984A>T (p.Asp995Val) | |
7 | g.41966086T>C | CA367319593 | GLI3 | c.2987A>G (p.Asp996Gly) c.2813A>G (p.Asp938Gly) n.2964A>G c.2810A>G (p.Asp937Gly) c.2984A>G (p.Asp995Gly) | |
7 | g.41966086T>G | CA367319594 | GLI3 | c.2987A>C (p.Asp996Ala) c.2813A>C (p.Asp938Ala) n.2964A>C c.2810A>C (p.Asp937Ala) c.2984A>C (p.Asp995Ala) | |
7 | g.41966087C>A | CA4230483 | GLI3 | c.2986G>T (p.Asp996Tyr) c.2812G>T (p.Asp938Tyr) n.2963G>T c.2809G>T (p.Asp937Tyr) c.2983G>T (p.Asp995Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966087C= | CA1702661106 | GLI3 | c.2986G= (p.Asp996=) c.2812G= (p.Asp938=) n.2963G= c.2809G= (p.Asp937=) c.2983G= (p.Asp995=) | |
7 | g.41966087C>G | CA367319599 | GLI3 | c.2986G>C (p.Asp996His) c.2812G>C (p.Asp938His) n.2963G>C c.2809G>C (p.Asp937His) c.2983G>C (p.Asp995His) | |
7 | g.41966087C>T | CA367319601 | GLI3 | c.2986G>A (p.Asp996Asn) c.2812G>A (p.Asp938Asn) n.2963G>A c.2809G>A (p.Asp937Asn) c.2983G>A (p.Asp995Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966088G>A | CA454662009 | GLI3 | c.2985C>T (p.His995=) c.2811C>T (p.His937=) n.2962C>T c.2808C>T (p.His936=) c.2982C>T (p.His994=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966088G>C | CA367319605 | GLI3 | c.2985C>G (p.His995Gln) c.2811C>G (p.His937Gln) n.2962C>G c.2808C>G (p.His936Gln) c.2982C>G (p.His994Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966088G= | CA1702661107 | GLI3 | c.2985C= (p.His995=) c.2811C= (p.His937=) n.2962C= c.2808C= (p.His936=) c.2982C= (p.His994=) | |
7 | g.41966088G>T | CA367319603 | GLI3 | c.2985C>A (p.His995Gln) c.2811C>A (p.His937Gln) n.2962C>A c.2808C>A (p.His936Gln) c.2982C>A (p.His994Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.41966089T>A | CA367319608 | GLI3 | c.2984A>T (p.His995Leu) c.2810A>T (p.His937Leu) n.2961A>T c.2807A>T (p.His936Leu) c.2981A>T (p.His994Leu) | |
7 | g.41966089T>C | CA367319609 | GLI3 | c.2984A>G (p.His995Arg) c.2810A>G (p.His937Arg) n.2961A>G c.2807A>G (p.His936Arg) c.2981A>G (p.His994Arg) | gnomAD v4 |
7 | g.41966089T>G | CA367319612 | GLI3 | c.2984A>C (p.His995Pro) c.2810A>C (p.His937Pro) n.2961A>C c.2807A>C (p.His936Pro) c.2981A>C (p.His994Pro) | |
7 | g.41966090G>A | CA367319615 | GLI3 | c.2983C>T (p.His995Tyr) c.2809C>T (p.His937Tyr) n.2960C>T c.2806C>T (p.His936Tyr) c.2980C>T (p.His994Tyr) | |
7 | g.41966090G>C | CA367319617 | GLI3 | c.2983C>G (p.His995Asp) c.2809C>G (p.His937Asp) n.2960C>G c.2806C>G (p.His936Asp) c.2980C>G (p.His994Asp) | |
7 | g.41966090G>T | CA367319619 | GLI3 | c.2983C>A (p.His995Asn) c.2809C>A (p.His937Asn) n.2960C>A c.2806C>A (p.His936Asn) c.2980C>A (p.His994Asn) | gnomAD v4 |
7 | g.41966091C>A | CA454662016 | GLI3 | c.2982G>T (p.Pro994=) c.2808G>T (p.Pro936=) n.2959G>T c.2805G>T (p.Pro935=) c.2979G>T (p.Pro993=) | gnomAD v4 |
7 | g.41966091C>G | CA454662015 | GLI3 | c.2982G>C (p.Pro994=) c.2808G>C (p.Pro936=) n.2959G>C c.2805G>C (p.Pro935=) c.2979G>C (p.Pro993=) | |
7 | g.41966091C>T | CA454662013 | GLI3 | c.2982G>A (p.Pro994=) c.2808G>A (p.Pro936=) n.2959G>A c.2805G>A (p.Pro935=) c.2979G>A (p.Pro993=) | gnomAD v4 |
7 | g.41966092G>A | CA367319622 | GLI3 | c.2981C>T (p.Pro994Leu) c.2807C>T (p.Pro936Leu) n.2958C>T c.2804C>T (p.Pro935Leu) c.2978C>T (p.Pro993Leu) | dbSNP gnomAD v4 |
7 | g.41966092G>C | CA4230484 | GLI3 | c.2981C>G (p.Pro994Arg) c.2807C>G (p.Pro936Arg) n.2958C>G c.2804C>G (p.Pro935Arg) c.2978C>G (p.Pro993Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966092G= | CA1702661108 | GLI3 | c.2981C= (p.Pro994=) c.2807C= (p.Pro936=) n.2958C= c.2804C= (p.Pro935=) c.2978C= (p.Pro993=) | |
7 | g.41966092G>T | CA4230485 | GLI3 | c.2981C>A (p.Pro994Gln) c.2807C>A (p.Pro936Gln) n.2958C>A c.2804C>A (p.Pro935Gln) c.2978C>A (p.Pro993Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41966093G>A | CA367319627 | GLI3 | c.2980C>T (p.Pro994Ser) c.2806C>T (p.Pro936Ser) n.2957C>T c.2803C>T (p.Pro935Ser) c.2977C>T (p.Pro993Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41966093G>C | CA367319628 | GLI3 | c.2980C>G (p.Pro994Ala) c.2806C>G (p.Pro936Ala) n.2957C>G c.2803C>G (p.Pro935Ala) c.2977C>G (p.Pro993Ala) | |
7 | g.41966093G= | CA1702661109 | GLI3 | c.2980C= (p.Pro994=) c.2806C= (p.Pro936=) n.2957C= c.2803C= (p.Pro935=) c.2977C= (p.Pro993=) | |
7 | g.41966093G>T | CA367319630 | GLI3 | c.2980C>A (p.Pro994Thr) c.2806C>A (p.Pro936Thr) n.2957C>A c.2803C>A (p.Pro935Thr) c.2977C>A (p.Pro993Thr) | gnomAD v4 |
7 | g.41966094C>A | CA367319636 | GLI3 | c.2979G>T (p.Gln993His) c.2805G>T (p.Gln935His) n.2956G>T c.2802G>T (p.Gln934His) c.2976G>T (p.Gln992His) | gnomAD v4 |
7 | g.41966094C= | CA1702661110 | GLI3 | c.2979G= (p.Gln993=) c.2805G= (p.Gln935=) n.2956G= c.2802G= (p.Gln934=) c.2976G= (p.Gln992=) | |
7 | g.41966094C>G | CA367319634 | GLI3 | c.2979G>C (p.Gln993His) c.2805G>C (p.Gln935His) n.2956G>C c.2802G>C (p.Gln934His) c.2976G>C (p.Gln992His) | gnomAD v4 |
7 | g.41966094C>T | CA4230486 | GLI3 | c.2979G>A (p.Gln993=) c.2805G>A (p.Gln935=) n.2956G>A c.2802G>A (p.Gln934=) c.2976G>A (p.Gln992=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41966095T>A | CA367319637 | GLI3 | c.2978A>T (p.Gln993Leu) c.2804A>T (p.Gln935Leu) n.2955A>T c.2801A>T (p.Gln934Leu) c.2975A>T (p.Gln992Leu) | |
7 | g.41966095T>C | CA367319639 | GLI3 | c.2978A>G (p.Gln993Arg) c.2804A>G (p.Gln935Arg) n.2955A>G c.2801A>G (p.Gln934Arg) c.2975A>G (p.Gln992Arg) | gnomAD v4 |
7 | g.41966095T>G | CA367319641 | GLI3 | c.2978A>C (p.Gln993Pro) c.2804A>C (p.Gln935Pro) n.2955A>C c.2801A>C (p.Gln934Pro) c.2975A>C (p.Gln992Pro) |