Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.41966074T>A | CA367319535 | GLI3 | c.2999A>T (p.His1000Leu) c.2825A>T (p.His942Leu) n.2976A>T c.2822A>T (p.His941Leu) c.2996A>T (p.His999Leu) | |
7 | g.41966074T>C | CA367319537 | GLI3 | c.2999A>G (p.His1000Arg) c.2825A>G (p.His942Arg) n.2976A>G c.2822A>G (p.His941Arg) c.2996A>G (p.His999Arg) | |
7 | g.41966074T>G | CA367319533 | GLI3 | c.2999A>C (p.His1000Pro) c.2825A>C (p.His942Pro) n.2976A>C c.2822A>C (p.His941Pro) c.2996A>C (p.His999Pro) | |
7 | g.41966075G>A | CA367319540 | GLI3 | c.2998C>T (p.His1000Tyr) c.2824C>T (p.His942Tyr) n.2975C>T c.2821C>T (p.His941Tyr) c.2995C>T (p.His999Tyr) | dbSNP gnomAD v4 |
7 | g.41966075G>C | CA367319542 | GLI3 | c.2998C>G (p.His1000Asp) c.2824C>G (p.His942Asp) n.2975C>G c.2821C>G (p.His941Asp) c.2995C>G (p.His999Asp) | gnomAD v4 |
7 | g.41966075G= | CA1702661098 | GLI3 | c.2998C= (p.His1000=) c.2824C= (p.His942=) n.2975C= c.2821C= (p.His941=) c.2995C= (p.His999=) | |
7 | g.41966075G>T | CA367319543 | GLI3 | c.2998C>A (p.His1000Asn) c.2824C>A (p.His942Asn) n.2975C>A c.2821C>A (p.His941Asn) c.2995C>A (p.His999Asn) | |
7 | g.41966076G>A | CA454661982 | GLI3 | c.2997C>T (p.Gly999=) c.2823C>T (p.Gly941=) n.2974C>T c.2820C>T (p.Gly940=) c.2994C>T (p.Gly998=) | gnomAD v4 |
7 | g.41966076G>C | CA454661983 | GLI3 | c.2997C>G (p.Gly999=) c.2823C>G (p.Gly941=) n.2974C>G c.2820C>G (p.Gly940=) c.2994C>G (p.Gly998=) | |
7 | g.41966076G>T | CA454661984 | GLI3 | c.2997C>A (p.Gly999=) c.2823C>A (p.Gly941=) n.2974C>A c.2820C>A (p.Gly940=) c.2994C>A (p.Gly998=) | gnomAD v4 |
7 | g.41966077C>A | CA4230478 | GLI3 | c.2996G>T (p.Gly999Val) c.2822G>T (p.Gly941Val) n.2973G>T c.2819G>T (p.Gly940Val) c.2993G>T (p.Gly998Val) | dbSNP ExAC gnomAD v4 |
7 | g.41966077C= | CA1702661099 | GLI3 | c.2996G= (p.Gly999=) c.2822G= (p.Gly941=) n.2973G= c.2819G= (p.Gly940=) c.2993G= (p.Gly998=) | |
7 | g.41966077C>G | CA367319547 | GLI3 | c.2996G>C (p.Gly999Ala) c.2822G>C (p.Gly941Ala) n.2973G>C c.2819G>C (p.Gly940Ala) c.2993G>C (p.Gly998Ala) | |
7 | g.41966077C>T | CA367319549 | GLI3 | c.2996G>A (p.Gly999Asp) c.2822G>A (p.Gly941Asp) n.2973G>A c.2819G>A (p.Gly940Asp) c.2993G>A (p.Gly998Asp) | gnomAD v4 |
7 | g.41966078C>A | CA367319552 | GLI3 | c.2995G>T (p.Gly999Cys) c.2821G>T (p.Gly941Cys) n.2972G>T c.2818G>T (p.Gly940Cys) c.2992G>T (p.Gly998Cys) | gnomAD v4 |
7 | g.41966078C>G | CA367319555 | GLI3 | c.2995G>C (p.Gly999Arg) c.2821G>C (p.Gly941Arg) n.2972G>C c.2818G>C (p.Gly940Arg) c.2992G>C (p.Gly998Arg) | |
7 | g.41966078C>T | CA367319553 | GLI3 | c.2995G>A (p.Gly999Ser) c.2821G>A (p.Gly941Ser) n.2972G>A c.2818G>A (p.Gly940Ser) c.2992G>A (p.Gly998Ser) | gnomAD v4 |
7 | g.41966079C>A | CA454661989 | GLI3 | c.2994G>T (p.Pro998=) c.2820G>T (p.Pro940=) n.2971G>T c.2817G>T (p.Pro939=) c.2991G>T (p.Pro997=) | COSMIC |
7 | g.41966079C= | CA1702661100 | GLI3 | c.2994G= (p.Pro998=) c.2820G= (p.Pro940=) n.2971G= c.2817G= (p.Pro939=) c.2991G= (p.Pro997=) | |
7 | g.41966079C>G | CA454661991 | GLI3 | c.2994G>C (p.Pro998=) c.2820G>C (p.Pro940=) n.2971G>C c.2817G>C (p.Pro939=) c.2991G>C (p.Pro997=) | gnomAD v4 |
7 | g.41966079C>T | CA4230479 | GLI3 | c.2994G>A (p.Pro998=) c.2820G>A (p.Pro940=) n.2971G>A c.2817G>A (p.Pro939=) c.2991G>A (p.Pro997=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966079_41966080delinsCG | CA1702661101 | GLI3 | c.2993_2994delinsCG (p.Pro998=) c.2819_2820delinsCG (p.Pro940=) n.2970_2971delinsCG c.2816_2817delinsCG (p.Pro939=) c.2990_2991delinsCG (p.Pro997=) | |
7 | g.41966080G>A | CA4230480 | GLI3 | c.2993C>T (p.Pro998Leu) c.2819C>T (p.Pro940Leu) n.2970C>T c.2816C>T (p.Pro939Leu) c.2990C>T (p.Pro997Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966080G>C | CA367319560 | GLI3 | c.2993C>G (p.Pro998Arg) c.2819C>G (p.Pro940Arg) n.2970C>G c.2816C>G (p.Pro939Arg) c.2990C>G (p.Pro997Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966080G= | CA1630834740 | GLI3 | c.2993C= (p.Pro998=) c.2819C= (p.Pro940=) n.2970C= c.2816C= (p.Pro939=) c.2990C= (p.Pro997=) | |
7 | g.41966080G>T | CA367319561 | GLI3 | c.2993C>A (p.Pro998Gln) c.2819C>A (p.Pro940Gln) n.2970C>A c.2816C>A (p.Pro939Gln) c.2990C>A (p.Pro997Gln) | |
7 | g.41966081del | CA573904902 | GLI3 | c.2993del (p.Pro998ArgfsTer5) c.2819del (p.Pro940ArgfsTer5) n.2970del c.2816del (p.Pro939ArgfsTer5) c.2990del (p.Pro997ArgfsTer5) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966081G>A | CA367319568 | GLI3 | c.2992C>T (p.Pro998Ser) c.2818C>T (p.Pro940Ser) n.2969C>T c.2815C>T (p.Pro939Ser) c.2989C>T (p.Pro997Ser) | |
7 | g.41966081G>C | CA367319566 | GLI3 | c.2992C>G (p.Pro998Ala) c.2818C>G (p.Pro940Ala) n.2969C>G c.2815C>G (p.Pro939Ala) c.2989C>G (p.Pro997Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966081G= | CA1702661102 | GLI3 | c.2992C= (p.Pro998=) c.2818C= (p.Pro940=) n.2969C= c.2815C= (p.Pro939=) c.2989C= (p.Pro997=) | |
7 | g.41966081G>T | CA367319564 | GLI3 | c.2992C>A (p.Pro998Thr) c.2818C>A (p.Pro940Thr) n.2969C>A c.2815C>A (p.Pro939Thr) c.2989C>A (p.Pro997Thr) | gnomAD v4 |
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 |