Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.41966315_41966369delCA1139660047GLI3c.2709_2763del (p.Arg905ProfsTer?)
c.2535_2589del (p.Arg847ProfsTer?)
n.2686_2740del
c.2532_2586del (p.Arg846ProfsTer?)
c.2706_2760del (p.Arg904ProfsTer?)
 ClinVar dbSNP
7g.41966365G>ACA367320510GLI3c.2708C>T (p.Ser903Leu)
c.2534C>T (p.Ser845Leu)
n.2685C>T
c.2531C>T (p.Ser844Leu)
c.2705C>T (p.Ser902Leu)
7g.41966365G>CCA367320511GLI3c.2708C>G (p.Ser903Trp)
c.2534C>G (p.Ser845Trp)
n.2685C>G
c.2531C>G (p.Ser844Trp)
c.2705C>G (p.Ser902Trp)
 dbSNP gnomAD v2
7g.41966365G=CA1702661266GLI3c.2708C= (p.Ser903=)
c.2534C= (p.Ser845=)
n.2685C=
c.2531C= (p.Ser844=)
c.2705C= (p.Ser902=)
7g.41966365G>TCA367320512GLI3c.2708C>A (p.Ser903Ter)
c.2534C>A (p.Ser845Ter)
n.2685C>A
c.2531C>A (p.Ser844Ter)
c.2705C>A (p.Ser902Ter)
 gnomAD v4
7g.41966366A>CCA367320513GLI3c.2707T>G (p.Ser903Ala)
c.2533T>G (p.Ser845Ala)
n.2684T>G
c.2530T>G (p.Ser844Ala)
c.2704T>G (p.Ser902Ala)
7g.41966366A>GCA367320515GLI3c.2707T>C (p.Ser903Pro)
c.2533T>C (p.Ser845Pro)
n.2684T>C
c.2530T>C (p.Ser844Pro)
c.2704T>C (p.Ser902Pro)
7g.41966366A>TCA367320514GLI3c.2707T>A (p.Ser903Thr)
c.2533T>A (p.Ser845Thr)
n.2684T>A
c.2530T>A (p.Ser844Thr)
c.2704T>A (p.Ser902Thr)
7g.41966367G>ACA4230544GLI3c.2706C>T (p.Ala902=)
c.2532C>T (p.Ala844=)
n.2683C>T
c.2529C>T (p.Ala843=)
c.2703C>T (p.Ala901=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966367G>CCA454662557GLI3c.2706C>G (p.Ala902=)
c.2532C>G (p.Ala844=)
n.2683C>G
c.2529C>G (p.Ala843=)
c.2703C>G (p.Ala901=)
7g.41966367G=CA1702661267GLI3c.2706C= (p.Ala902=)
c.2532C= (p.Ala844=)
n.2683C=
c.2529C= (p.Ala843=)
c.2703C= (p.Ala901=)
7g.41966367G>TCA454662559GLI3c.2706C>A (p.Ala902=)
c.2532C>A (p.Ala844=)
n.2683C>A
c.2529C>A (p.Ala843=)
c.2703C>A (p.Ala901=)
7g.41966368G>ACA367320516GLI3c.2705C>T (p.Ala902Val)
c.2531C>T (p.Ala844Val)
n.2682C>T
c.2528C>T (p.Ala843Val)
c.2702C>T (p.Ala901Val)
 dbSNP gnomAD v3 gnomAD v4
7g.41966368G>CCA367320517GLI3c.2705C>G (p.Ala902Gly)
c.2531C>G (p.Ala844Gly)
n.2682C>G
c.2528C>G (p.Ala843Gly)
c.2702C>G (p.Ala901Gly)
7g.41966368G=CA1702661268GLI3c.2705C= (p.Ala902=)
c.2531C= (p.Ala844=)
n.2682C=
c.2528C= (p.Ala843=)
c.2702C= (p.Ala901=)
7g.41966368G>TCA367320518GLI3c.2705C>A (p.Ala902Asp)
c.2531C>A (p.Ala844Asp)
n.2682C>A
c.2528C>A (p.Ala843Asp)
c.2702C>A (p.Ala901Asp)
 gnomAD v4
7g.41966369C>ACA367320519GLI3c.2704G>T (p.Ala902Ser)
c.2530G>T (p.Ala844Ser)
n.2681G>T
c.2527G>T (p.Ala843Ser)
c.2701G>T (p.Ala901Ser)
 gnomAD v4
7g.41966369C=CA1702661269GLI3c.2704G= (p.Ala902=)
c.2530G= (p.Ala844=)
n.2681G=
c.2527G= (p.Ala843=)
c.2701G= (p.Ala901=)
7g.41966369C>GCA367320520GLI3c.2704G>C (p.Ala902Pro)
c.2530G>C (p.Ala844Pro)
n.2681G>C
c.2527G>C (p.Ala843Pro)
c.2701G>C (p.Ala901Pro)
7g.41966369C>TCA367320521GLI3c.2704G>A (p.Ala902Thr)
c.2530G>A (p.Ala844Thr)
n.2681G>A
c.2527G>A (p.Ala843Thr)
c.2701G>A (p.Ala901Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41966370G>ACA454662561GLI3c.2703C>T (p.Asp901=)
c.2529C>T (p.Asp843=)
n.2680C>T
c.2526C>T (p.Asp842=)
c.2700C>T (p.Asp900=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41966370G>CCA367320522GLI3c.2703C>G (p.Asp901Glu)
c.2529C>G (p.Asp843Glu)
n.2680C>G
c.2526C>G (p.Asp842Glu)
c.2700C>G (p.Asp900Glu)
7g.41966370G=CA1702661270GLI3c.2703C= (p.Asp901=)
c.2529C= (p.Asp843=)
n.2680C=
c.2526C= (p.Asp842=)
c.2700C= (p.Asp900=)
7g.41966370G>TCA367320523GLI3c.2703C>A (p.Asp901Glu)
c.2529C>A (p.Asp843Glu)
n.2680C>A
c.2526C>A (p.Asp842Glu)
c.2700C>A (p.Asp900Glu)
7g.41966371T>ACA367320524GLI3c.2702A>T (p.Asp901Val)
c.2528A>T (p.Asp843Val)
n.2679A>T
c.2525A>T (p.Asp842Val)
c.2699A>T (p.Asp900Val)
7g.41966371T>CCA367320525GLI3c.2702A>G (p.Asp901Gly)
c.2528A>G (p.Asp843Gly)
n.2679A>G
c.2525A>G (p.Asp842Gly)
c.2699A>G (p.Asp900Gly)
7g.41966371T>GCA367320526GLI3c.2702A>C (p.Asp901Ala)
c.2528A>C (p.Asp843Ala)
n.2679A>C
c.2525A>C (p.Asp842Ala)
c.2699A>C (p.Asp900Ala)
7g.41966372C>ACA367320527GLI3c.2701G>T (p.Asp901Tyr)
c.2527G>T (p.Asp843Tyr)
n.2678G>T
c.2524G>T (p.Asp842Tyr)
c.2698G>T (p.Asp900Tyr)
7g.41966372C>GCA367320529GLI3c.2701G>C (p.Asp901His)
c.2527G>C (p.Asp843His)
n.2678G>C
c.2524G>C (p.Asp842His)
c.2698G>C (p.Asp900His)
7g.41966372C>TCA367320528GLI3c.2701G>A (p.Asp901Asn)
c.2527G>A (p.Asp843Asn)
n.2678G>A
c.2524G>A (p.Asp842Asn)
c.2698G>A (p.Asp900Asn)
7g.41966373G>ACA454662565GLI3c.2700C>T (p.Thr900=)
c.2526C>T (p.Thr842=)
n.2677C>T
c.2523C>T (p.Thr841=)
c.2697C>T (p.Thr899=)
 gnomAD v4
7g.41966373G>CCA454662567GLI3c.2700C>G (p.Thr900=)
c.2526C>G (p.Thr842=)
n.2677C>G
c.2523C>G (p.Thr841=)
c.2697C>G (p.Thr899=)
7g.41966373G=CA1702661271GLI3c.2700C= (p.Thr900=)
c.2526C= (p.Thr842=)
n.2677C=
c.2523C= (p.Thr841=)
c.2697C= (p.Thr899=)
7g.41966373G>TCA4230545GLI3c.2700C>A (p.Thr900=)
c.2526C>A (p.Thr842=)
n.2677C>A
c.2523C>A (p.Thr841=)
c.2697C>A (p.Thr899=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41966374G>ACA367320530GLI3c.2699C>T (p.Thr900Ile)
c.2525C>T (p.Thr842Ile)
n.2676C>T
c.2522C>T (p.Thr841Ile)
c.2696C>T (p.Thr899Ile)
 gnomAD v4
7g.41966374G>CCA367320531GLI3c.2699C>G (p.Thr900Ser)
c.2525C>G (p.Thr842Ser)
n.2676C>G
c.2522C>G (p.Thr841Ser)
c.2696C>G (p.Thr899Ser)
7g.41966374G>TCA367320532GLI3c.2699C>A (p.Thr900Asn)
c.2525C>A (p.Thr842Asn)
n.2676C>A
c.2522C>A (p.Thr841Asn)
c.2696C>A (p.Thr899Asn)
 gnomAD v4
7g.41966375T>ACA367320533GLI3c.2698A>T (p.Thr900Ser)
c.2524A>T (p.Thr842Ser)
n.2675A>T
c.2521A>T (p.Thr841Ser)
c.2695A>T (p.Thr899Ser)
7g.41966375T>CCA367320534GLI3c.2698A>G (p.Thr900Ala)
c.2524A>G (p.Thr842Ala)
n.2675A>G
c.2521A>G (p.Thr841Ala)
c.2695A>G (p.Thr899Ala)
 gnomAD v4
7g.41966375T>GCA367320535GLI3c.2698A>C (p.Thr900Pro)
c.2524A>C (p.Thr842Pro)
n.2675A>C
c.2521A>C (p.Thr841Pro)
c.2695A>C (p.Thr899Pro)
7g.41966376G>ACA4230546GLI3c.2697C>T (p.Ser899=)
c.2523C>T (p.Ser841=)
n.2674C>T
c.2520C>T (p.Ser840=)
c.2694C>T (p.Ser898=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966376G>CCA454662573GLI3c.2697C>G (p.Ser899=)
c.2523C>G (p.Ser841=)
n.2674C>G
c.2520C>G (p.Ser840=)
c.2694C>G (p.Ser898=)
7g.41966376G=CA1702661272GLI3c.2697C= (p.Ser899=)
c.2523C= (p.Ser841=)
n.2674C=
c.2520C= (p.Ser840=)
c.2694C= (p.Ser898=)
7g.41966376G>TCA454662574GLI3c.2697C>A (p.Ser899=)
c.2523C>A (p.Ser841=)
n.2674C>A
c.2520C>A (p.Ser840=)
c.2694C>A (p.Ser898=)
7g.41966377delCA2682510167GLI3c.2697del (p.Thr900ProfsTer?)
c.2523del (p.Thr842ProfsTer?)
n.2674del
c.2520del (p.Thr841ProfsTer?)
c.2694del (p.Thr899ProfsTer?)
 gnomAD v4
7g.41966377G>ACA367320536GLI3c.2696C>T (p.Ser899Phe)
c.2522C>T (p.Ser841Phe)
n.2673C>T
c.2519C>T (p.Ser840Phe)
c.2693C>T (p.Ser898Phe)
7g.41966377G>CCA367320537GLI3c.2696C>G (p.Ser899Cys)
c.2522C>G (p.Ser841Cys)
n.2673C>G
c.2519C>G (p.Ser840Cys)
c.2693C>G (p.Ser898Cys)
7g.41966377G>TCA367320538GLI3c.2696C>A (p.Ser899Tyr)
c.2522C>A (p.Ser841Tyr)
n.2673C>A
c.2519C>A (p.Ser840Tyr)
c.2693C>A (p.Ser898Tyr)
7g.41966378A>CCA367320541GLI3c.2695T>G (p.Ser899Ala)
c.2521T>G (p.Ser841Ala)
n.2672T>G
c.2518T>G (p.Ser840Ala)
c.2692T>G (p.Ser898Ala)
7g.41966378A>GCA367320540GLI3c.2695T>C (p.Ser899Pro)
c.2521T>C (p.Ser841Pro)
n.2672T>C
c.2518T>C (p.Ser840Pro)
c.2692T>C (p.Ser898Pro)
7g.41966378A>TCA367320539GLI3c.2695T>A (p.Ser899Thr)
c.2521T>A (p.Ser841Thr)
n.2672T>A
c.2518T>A (p.Ser840Thr)
c.2692T>A (p.Ser898Thr)
 gnomAD v4
7g.41966379G>ACA454662578GLI3c.2694C>T (p.Ile898=)
c.2520C>T (p.Ile840=)
n.2671C>T
c.2517C>T (p.Ile839=)
c.2691C>T (p.Ile897=)
7g.41966379G>CCA367320542GLI3c.2694C>G (p.Ile898Met)
c.2520C>G (p.Ile840Met)
n.2671C>G
c.2517C>G (p.Ile839Met)
c.2691C>G (p.Ile897Met)
7g.41966379G>TCA454662581GLI3c.2694C>A (p.Ile898=)
c.2520C>A (p.Ile840=)
n.2671C>A
c.2517C>A (p.Ile839=)
c.2691C>A (p.Ile897=)
 gnomAD v4
7g.41966380A>CCA367320543GLI3c.2693T>G (p.Ile898Ser)
c.2519T>G (p.Ile840Ser)
n.2670T>G
c.2516T>G (p.Ile839Ser)
c.2690T>G (p.Ile897Ser)
7g.41966380A>GCA367320544GLI3c.2693T>C (p.Ile898Thr)
c.2519T>C (p.Ile840Thr)
n.2670T>C
c.2516T>C (p.Ile839Thr)
c.2690T>C (p.Ile897Thr)
7g.41966380A>TCA367320545GLI3c.2693T>A (p.Ile898Asn)
c.2519T>A (p.Ile840Asn)
n.2670T>A
c.2516T>A (p.Ile839Asn)
c.2690T>A (p.Ile897Asn)
7g.41966381T>ACA367320546GLI3c.2692A>T (p.Ile898Phe)
c.2518A>T (p.Ile840Phe)
n.2669A>T
c.2515A>T (p.Ile839Phe)
c.2689A>T (p.Ile897Phe)
7g.41966381T>CCA367320547GLI3c.2692A>G (p.Ile898Val)
c.2518A>G (p.Ile840Val)
n.2669A>G
c.2515A>G (p.Ile839Val)
c.2689A>G (p.Ile897Val)
 ClinVar
7g.41966381T>GCA367320548GLI3c.2692A>C (p.Ile898Leu)
c.2518A>C (p.Ile840Leu)
n.2669A>C
c.2515A>C (p.Ile839Leu)
c.2689A>C (p.Ile897Leu)
7g.41966382G>ACA454662586GLI3c.2691C>T (p.Pro897=)
c.2517C>T (p.Pro839=)
n.2668C>T
c.2514C>T (p.Pro838=)
c.2688C>T (p.Pro896=)
 dbSNP
7g.41966382G>CCA454662587GLI3c.2691C>G (p.Pro897=)
c.2517C>G (p.Pro839=)
n.2668C>G
c.2514C>G (p.Pro838=)
c.2688C>G (p.Pro896=)
7g.41966382G=CA1702661273GLI3c.2691C= (p.Pro897=)
c.2517C= (p.Pro839=)
n.2668C=
c.2514C= (p.Pro838=)
c.2688C= (p.Pro896=)
7g.41966382G>TCA454662589GLI3c.2691C>A (p.Pro897=)
c.2517C>A (p.Pro839=)
n.2668C>A
c.2514C>A (p.Pro838=)
c.2688C>A (p.Pro896=)
 gnomAD v4
7g.41966383G>ACA367320549GLI3c.2690C>T (p.Pro897Leu)
c.2516C>T (p.Pro839Leu)
n.2667C>T
c.2513C>T (p.Pro838Leu)
c.2687C>T (p.Pro896Leu)
7g.41966383G>CCA367320550GLI3c.2690C>G (p.Pro897Arg)
c.2516C>G (p.Pro839Arg)
n.2667C>G
c.2513C>G (p.Pro838Arg)
c.2687C>G (p.Pro896Arg)
 ClinVar dbSNP
7g.41966383G>TCA367320551GLI3c.2690C>A (p.Pro897His)
c.2516C>A (p.Pro839His)
n.2667C>A
c.2513C>A (p.Pro838His)
c.2687C>A (p.Pro896His)
7g.41966384G>ACA367320552GLI3c.2689C>T (p.Pro897Ser)
c.2515C>T (p.Pro839Ser)
n.2666C>T
c.2512C>T (p.Pro838Ser)
c.2686C>T (p.Pro896Ser)
 gnomAD v4
7g.41966384G>CCA367320553GLI3c.2689C>G (p.Pro897Ala)
c.2515C>G (p.Pro839Ala)
n.2666C>G
c.2512C>G (p.Pro838Ala)
c.2686C>G (p.Pro896Ala)
7g.41966384G>TCA367320554GLI3c.2689C>A (p.Pro897Thr)
c.2515C>A (p.Pro839Thr)
n.2666C>A
c.2512C>A (p.Pro838Thr)
c.2686C>A (p.Pro896Thr)
 gnomAD v4
7g.41966385G>ACA454662594GLI3c.2688C>T (p.Asp896=)
c.2514C>T (p.Asp838=)
n.2665C>T
c.2511C>T (p.Asp837=)
c.2685C>T (p.Asp895=)
7g.41966385G>CCA367320555GLI3c.2688C>G (p.Asp896Glu)
c.2514C>G (p.Asp838Glu)
n.2665C>G
c.2511C>G (p.Asp837Glu)
c.2685C>G (p.Asp895Glu)
7g.41966385G>TCA367320556GLI3c.2688C>A (p.Asp896Glu)
c.2514C>A (p.Asp838Glu)
n.2665C>A
c.2511C>A (p.Asp837Glu)
c.2685C>A (p.Asp895Glu)
 gnomAD v4
7g.41966386T>ACA367320557GLI3c.2687A>T (p.Asp896Val)
c.2513A>T (p.Asp838Val)
n.2664A>T
c.2510A>T (p.Asp837Val)
c.2684A>T (p.Asp895Val)
7g.41966386T>CCA367320559GLI3c.2687A>G (p.Asp896Gly)
c.2513A>G (p.Asp838Gly)
n.2664A>G
c.2510A>G (p.Asp837Gly)
c.2684A>G (p.Asp895Gly)
7g.41966386T>GCA367320558GLI3c.2687A>C (p.Asp896Ala)
c.2513A>C (p.Asp838Ala)
n.2664A>C
c.2510A>C (p.Asp837Ala)
c.2684A>C (p.Asp895Ala)
7g.41966387C>ACA367320560GLI3c.2686G>T (p.Asp896Tyr)
c.2512G>T (p.Asp838Tyr)
n.2663G>T
c.2509G>T (p.Asp837Tyr)
c.2683G>T (p.Asp895Tyr)
 dbSNP gnomAD v2 gnomAD v4
7g.41966387C=CA1702661274GLI3c.2686G= (p.Asp896=)
c.2512G= (p.Asp838=)
n.2663G=
c.2509G= (p.Asp837=)
c.2683G= (p.Asp895=)
7g.41966387C>GCA367320561GLI3c.2686G>C (p.Asp896His)
c.2512G>C (p.Asp838His)
n.2663G>C
c.2509G>C (p.Asp837His)
c.2683G>C (p.Asp895His)
 ClinVar
7g.41966387C>TCA367320562GLI3c.2686G>A (p.Asp896Asn)
c.2512G>A (p.Asp838Asn)
n.2663G>A
c.2509G>A (p.Asp837Asn)
c.2683G>A (p.Asp895Asn)
 gnomAD v4
7g.41966388G>ACA4230547GLI3c.2685C>T (p.Tyr895=)
c.2511C>T (p.Tyr837=)
n.2662C>T
c.2508C>T (p.Tyr836=)
c.2682C>T (p.Tyr894=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41966388G>CCA367320563GLI3c.2685C>G (p.Tyr895Ter)
c.2511C>G (p.Tyr837Ter)
n.2662C>G
c.2508C>G (p.Tyr836Ter)
c.2682C>G (p.Tyr894Ter)
 ClinVar dbSNP
7g.41966388G=CA1702661275GLI3c.2685C= (p.Tyr895=)
c.2511C= (p.Tyr837=)
n.2662C=
c.2508C= (p.Tyr836=)
c.2682C= (p.Tyr894=)
7g.41966388G>TCA367320564GLI3c.2685C>A (p.Tyr895Ter)
c.2511C>A (p.Tyr837Ter)
n.2662C>A
c.2508C>A (p.Tyr836Ter)
c.2682C>A (p.Tyr894Ter)
7g.41966389T>ACA367320567GLI3c.2684A>T (p.Tyr895Phe)
c.2510A>T (p.Tyr837Phe)
n.2661A>T
c.2507A>T (p.Tyr836Phe)
c.2681A>T (p.Tyr894Phe)
7g.41966389T>CCA367320566GLI3c.2684A>G (p.Tyr895Cys)
c.2510A>G (p.Tyr837Cys)
n.2661A>G
c.2507A>G (p.Tyr836Cys)
c.2681A>G (p.Tyr894Cys)
7g.41966389T>GCA367320565GLI3c.2684A>C (p.Tyr895Ser)
c.2510A>C (p.Tyr837Ser)
n.2661A>C
c.2507A>C (p.Tyr836Ser)
c.2681A>C (p.Tyr894Ser)
7g.41966390A>CCA367320568GLI3c.2683T>G (p.Tyr895Asp)
c.2509T>G (p.Tyr837Asp)
n.2660T>G
c.2506T>G (p.Tyr836Asp)
c.2680T>G (p.Tyr894Asp)
7g.41966390A>GCA367320569GLI3c.2683T>C (p.Tyr895His)
c.2509T>C (p.Tyr837His)
n.2660T>C
c.2506T>C (p.Tyr836His)
c.2680T>C (p.Tyr894His)
7g.41966390A>TCA367320570GLI3c.2683T>A (p.Tyr895Asn)
c.2509T>A (p.Tyr837Asn)
n.2660T>A
c.2506T>A (p.Tyr836Asn)
c.2680T>A (p.Tyr894Asn)
7g.41966391G>ACA454662601GLI3c.2682C>T (p.Ser894=)
c.2508C>T (p.Ser836=)
n.2659C>T
c.2505C>T (p.Ser835=)
c.2679C>T (p.Ser893=)
 gnomAD v4
7g.41966391G>CCA454662606GLI3c.2682C>G (p.Ser894=)
c.2508C>G (p.Ser836=)
n.2659C>G
c.2505C>G (p.Ser835=)
c.2679C>G (p.Ser893=)
7g.41966391G>TCA454662603GLI3c.2682C>A (p.Ser894=)
c.2508C>A (p.Ser836=)
n.2659C>A
c.2505C>A (p.Ser835=)
c.2679C>A (p.Ser893=)
7g.41966392G>ACA367320571GLI3c.2681C>T (p.Ser894Phe)
c.2507C>T (p.Ser836Phe)
n.2658C>T
c.2504C>T (p.Ser835Phe)
c.2678C>T (p.Ser893Phe)
7g.41966392G>CCA367320572GLI3c.2681C>G (p.Ser894Cys)
c.2507C>G (p.Ser836Cys)
n.2658C>G
c.2504C>G (p.Ser835Cys)
c.2678C>G (p.Ser893Cys)
7g.41966392G>TCA367320573GLI3c.2681C>A (p.Ser894Tyr)
c.2507C>A (p.Ser836Tyr)
n.2658C>A
c.2504C>A (p.Ser835Tyr)
c.2678C>A (p.Ser893Tyr)
7g.41966393A>CCA367320574GLI3c.2680T>G (p.Ser894Ala)
c.2506T>G (p.Ser836Ala)
n.2657T>G
c.2503T>G (p.Ser835Ala)
c.2677T>G (p.Ser893Ala)
7g.41966393A>GCA367320576GLI3c.2680T>C (p.Ser894Pro)
c.2506T>C (p.Ser836Pro)
n.2657T>C
c.2503T>C (p.Ser835Pro)
c.2677T>C (p.Ser893Pro)
 gnomAD v4
7g.41966393A>TCA367320575GLI3c.2680T>A (p.Ser894Thr)
c.2506T>A (p.Ser836Thr)
n.2657T>A
c.2503T>A (p.Ser835Thr)
c.2677T>A (p.Ser893Thr)
7g.41966394G>ACA454662609GLI3c.2679C>T (p.Asp893=)
c.2505C>T (p.Asp835=)
n.2656C>T
c.2502C>T (p.Asp834=)
c.2676C>T (p.Asp892=)
 gnomAD v4
7g.41966394G>CCA367320577GLI3c.2679C>G (p.Asp893Glu)
c.2505C>G (p.Asp835Glu)
n.2656C>G
c.2502C>G (p.Asp834Glu)
c.2676C>G (p.Asp892Glu)
7g.41966394G=CA1702661276GLI3c.2679C= (p.Asp893=)
c.2505C= (p.Asp835=)
n.2656C=
c.2502C= (p.Asp834=)
c.2676C= (p.Asp892=)
7g.41966394G>TCA4230548GLI3c.2679C>A (p.Asp893Glu)
c.2505C>A (p.Asp835Glu)
n.2656C>A
c.2502C>A (p.Asp834Glu)
c.2676C>A (p.Asp892Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41966395T>ACA367320578GLI3c.2678A>T (p.Asp893Val)
c.2504A>T (p.Asp835Val)
n.2655A>T
c.2501A>T (p.Asp834Val)
c.2675A>T (p.Asp892Val)
 gnomAD v4
7g.41966395T>CCA367320579GLI3c.2678A>G (p.Asp893Gly)
c.2504A>G (p.Asp835Gly)
n.2655A>G
c.2501A>G (p.Asp834Gly)
c.2675A>G (p.Asp892Gly)
 ClinVar dbSNP
7g.41966395T>GCA367320580GLI3c.2678A>C (p.Asp893Ala)
c.2504A>C (p.Asp835Ala)
n.2655A>C
c.2501A>C (p.Asp834Ala)
c.2675A>C (p.Asp892Ala)
7g.41966395T=CA1702661277GLI3c.2678A= (p.Asp893=)
c.2504A= (p.Asp835=)
n.2655A=
c.2501A= (p.Asp834=)
c.2675A= (p.Asp892=)
7g.41966396C>ACA367320581GLI3c.2677G>T (p.Asp893Tyr)
c.2503G>T (p.Asp835Tyr)
n.2654G>T
c.2500G>T (p.Asp834Tyr)
c.2674G>T (p.Asp892Tyr)
7g.41966396C>GCA367320582GLI3c.2677G>C (p.Asp893His)
c.2503G>C (p.Asp835His)
n.2654G>C
c.2500G>C (p.Asp834His)
c.2674G>C (p.Asp892His)
 gnomAD v4
7g.41966396C>TCA367320583GLI3c.2677G>A (p.Asp893Asn)
c.2503G>A (p.Asp835Asn)
n.2654G>A
c.2500G>A (p.Asp834Asn)
c.2674G>A (p.Asp892Asn)
 gnomAD v4
7g.41966397G>ACA454662612GLI3c.2676C>T (p.Ala892=)
c.2502C>T (p.Ala834=)
n.2653C>T
c.2499C>T (p.Ala833=)
c.2673C>T (p.Ala891=)
 dbSNP gnomAD v4
7g.41966397G>CCA454662613GLI3c.2676C>G (p.Ala892=)
c.2502C>G (p.Ala834=)
n.2653C>G
c.2499C>G (p.Ala833=)
c.2673C>G (p.Ala891=)
 gnomAD v4
7g.41966397G>TCA454662615GLI3c.2676C>A (p.Ala892=)
c.2502C>A (p.Ala834=)
n.2653C>A
c.2499C>A (p.Ala833=)
c.2673C>A (p.Ala891=)
7g.41966397_41966409delCA2695198482GLI3c.2664_2676del (p.Asn888LysfsTer?)
c.2490_2502del (p.Asn830LysfsTer?)
n.2641_2653del
c.2487_2499del (p.Asn829LysfsTer?)
c.2661_2673del (p.Asn887LysfsTer?)
 ClinVar
7g.41966398G>ACA4230549GLI3c.2675C>T (p.Ala892Val)
c.2501C>T (p.Ala834Val)
n.2652C>T
c.2498C>T (p.Ala833Val)
c.2672C>T (p.Ala891Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41966398G>CCA367320584GLI3c.2675C>G (p.Ala892Gly)
c.2501C>G (p.Ala834Gly)
n.2652C>G
c.2498C>G (p.Ala833Gly)
c.2672C>G (p.Ala891Gly)
7g.41966398G=CA1702661278GLI3c.2675C= (p.Ala892=)
c.2501C= (p.Ala834=)
n.2652C=
c.2498C= (p.Ala833=)
c.2672C= (p.Ala891=)
7g.41966398G>TCA367320585GLI3c.2675C>A (p.Ala892Asp)
c.2501C>A (p.Ala834Asp)
n.2652C>A
c.2498C>A (p.Ala833Asp)
c.2672C>A (p.Ala891Asp)
7g.41966399C>ACA367320586GLI3c.2674G>T (p.Ala892Ser)
c.2500G>T (p.Ala834Ser)
n.2651G>T
c.2497G>T (p.Ala833Ser)
c.2671G>T (p.Ala891Ser)
7g.41966399C=CA1702661279GLI3c.2674G= (p.Ala892=)
c.2500G= (p.Ala834=)
n.2651G=
c.2497G= (p.Ala833=)
c.2671G= (p.Ala891=)
7g.41966399C>GCA367320588GLI3c.2674G>C (p.Ala892Pro)
c.2500G>C (p.Ala834Pro)
n.2651G>C
c.2497G>C (p.Ala833Pro)
c.2671G>C (p.Ala891Pro)
7g.41966399C>TCA367320587GLI3c.2674G>A (p.Ala892Thr)
c.2500G>A (p.Ala834Thr)
n.2651G>A
c.2497G>A (p.Ala833Thr)
c.2671G>A (p.Ala891Thr)
 dbSNP gnomAD v3 gnomAD v4
7g.41966400C>ACA454662622GLI3c.2673G>T (p.Val891=)
c.2499G>T (p.Val833=)
n.2650G>T
c.2496G>T (p.Val832=)
c.2670G>T (p.Val890=)
7g.41966400C=CA1702661280GLI3c.2673G= (p.Val891=)
c.2499G= (p.Val833=)
n.2650G=
c.2496G= (p.Val832=)
c.2670G= (p.Val890=)
7g.41966400C>GCA454662623GLI3c.2673G>C (p.Val891=)
c.2499G>C (p.Val833=)
n.2650G>C
c.2496G>C (p.Val832=)
c.2670G>C (p.Val890=)
7g.41966400C>TCA454662621GLI3c.2673G>A (p.Val891=)
c.2499G>A (p.Val833=)
n.2650G>A
c.2496G>A (p.Val832=)
c.2670G>A (p.Val890=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.41966401A>CCA367320589GLI3c.2672T>G (p.Val891Gly)
c.2498T>G (p.Val833Gly)
n.2649T>G
c.2495T>G (p.Val832Gly)
c.2669T>G (p.Val890Gly)
7g.41966401A>GCA367320590GLI3c.2672T>C (p.Val891Ala)
c.2498T>C (p.Val833Ala)
n.2649T>C
c.2495T>C (p.Val832Ala)
c.2669T>C (p.Val890Ala)
7g.41966401A>TCA367320591GLI3c.2672T>A (p.Val891Glu)
c.2498T>A (p.Val833Glu)
n.2649T>A
c.2495T>A (p.Val832Glu)
c.2669T>A (p.Val890Glu)
7g.41966402C>ACA367320592GLI3c.2671G>T (p.Val891Leu)
c.2497G>T (p.Val833Leu)
n.2648G>T
c.2494G>T (p.Val832Leu)
c.2668G>T (p.Val890Leu)
 gnomAD v4
7g.41966402C=CA1702661281GLI3c.2671G= (p.Val891=)
c.2497G= (p.Val833=)
n.2648G=
c.2494G= (p.Val832=)
c.2668G= (p.Val890=)
7g.41966402C>GCA367320593GLI3c.2671G>C (p.Val891Leu)
c.2497G>C (p.Val833Leu)
n.2648G>C
c.2494G>C (p.Val832Leu)
c.2668G>C (p.Val890Leu)
7g.41966402C>TCA4230550GLI3c.2671G>A (p.Val891Met)
c.2497G>A (p.Val833Met)
n.2648G>A
c.2494G>A (p.Val832Met)
c.2668G>A (p.Val890Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41966403G>ACA454662627GLI3c.2670C>T (p.Ser890=)
c.2496C>T (p.Ser832=)
n.2647C>T
c.2493C>T (p.Ser831=)
c.2667C>T (p.Ser889=)
 gnomAD v4 COSMIC
7g.41966403G>CCA367320594GLI3c.2670C>G (p.Ser890Arg)
c.2496C>G (p.Ser832Arg)
n.2647C>G
c.2493C>G (p.Ser831Arg)
c.2667C>G (p.Ser889Arg)
7g.41966403G>TCA367320595GLI3c.2670C>A (p.Ser890Arg)
c.2496C>A (p.Ser832Arg)
n.2647C>A
c.2493C>A (p.Ser831Arg)
c.2667C>A (p.Ser889Arg)
7g.41966404C>ACA367320596GLI3c.2669G>T (p.Ser890Ile)
c.2495G>T (p.Ser832Ile)
n.2646G>T
c.2492G>T (p.Ser831Ile)
c.2666G>T (p.Ser889Ile)
7g.41966404C>GCA367320597GLI3c.2669G>C (p.Ser890Thr)
c.2495G>C (p.Ser832Thr)
n.2646G>C
c.2492G>C (p.Ser831Thr)
c.2666G>C (p.Ser889Thr)
7g.41966404C>TCA367320598GLI3c.2669G>A (p.Ser890Asn)
c.2495G>A (p.Ser832Asn)
n.2646G>A
c.2492G>A (p.Ser831Asn)
c.2666G>A (p.Ser889Asn)
7g.41966405T>ACA367320601GLI3c.2668A>T (p.Ser890Cys)
c.2494A>T (p.Ser832Cys)
n.2645A>T
c.2491A>T (p.Ser831Cys)
c.2665A>T (p.Ser889Cys)
7g.41966405T>CCA367320600GLI3c.2668A>G (p.Ser890Gly)
c.2494A>G (p.Ser832Gly)
n.2645A>G
c.2491A>G (p.Ser831Gly)
c.2665A>G (p.Ser889Gly)
7g.41966405T>GCA367320599GLI3c.2668A>C (p.Ser890Arg)
c.2494A>C (p.Ser832Arg)
n.2645A>C
c.2491A>C (p.Ser831Arg)
c.2665A>C (p.Ser889Arg)
7g.41966406C>ACA454662631GLI3c.2667G>T (p.Val889=)
c.2493G>T (p.Val831=)
n.2644G>T
c.2490G>T (p.Val830=)
c.2664G>T (p.Val888=)
7g.41966406C=CA1702661282GLI3c.2667G= (p.Val889=)
c.2493G= (p.Val831=)
n.2644G=
c.2490G= (p.Val830=)
c.2664G= (p.Val888=)
7g.41966406C>GCA454662632GLI3c.2667G>C (p.Val889=)
c.2493G>C (p.Val831=)
n.2644G>C
c.2490G>C (p.Val830=)
c.2664G>C (p.Val888=)
7g.41966406C>TCA454662633GLI3c.2667G>A (p.Val889=)
c.2493G>A (p.Val831=)
n.2644G>A
c.2490G>A (p.Val830=)
c.2664G>A (p.Val888=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41966407A=CA1702661283GLI3c.2666T= (p.Val889=)
c.2492T= (p.Val831=)
n.2643T=
c.2489T= (p.Val830=)
c.2663T= (p.Val888=)
7g.41966407A>CCA367320602GLI3c.2666T>G (p.Val889Gly)
c.2492T>G (p.Val831Gly)
n.2643T>G
c.2489T>G (p.Val830Gly)
c.2663T>G (p.Val888Gly)
7g.41966407A>GCA367320603GLI3c.2666T>C (p.Val889Ala)
c.2492T>C (p.Val831Ala)
n.2643T>C
c.2489T>C (p.Val830Ala)
c.2663T>C (p.Val888Ala)
 dbSNP gnomAD v2 gnomAD v4
7g.41966407A>TCA4230551GLI3c.2666T>A (p.Val889Glu)
c.2492T>A (p.Val831Glu)
n.2643T>A
c.2489T>A (p.Val830Glu)
c.2663T>A (p.Val888Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966408C>ACA367320604GLI3c.2665G>T (p.Val889Leu)
c.2491G>T (p.Val831Leu)
n.2642G>T
c.2488G>T (p.Val830Leu)
c.2662G>T (p.Val888Leu)
7g.41966408C=CA1702661284GLI3c.2665G= (p.Val889=)
c.2491G= (p.Val831=)
n.2642G=
c.2488G= (p.Val830=)
c.2662G= (p.Val888=)
7g.41966408C>GCA367320605GLI3c.2665G>C (p.Val889Leu)
c.2491G>C (p.Val831Leu)
n.2642G>C
c.2488G>C (p.Val830Leu)
c.2662G>C (p.Val888Leu)
 gnomAD v4
7g.41966408C>TCA367320606GLI3c.2665G>A (p.Val889Met)
c.2491G>A (p.Val831Met)
n.2642G>A
c.2488G>A (p.Val830Met)
c.2662G>A (p.Val888Met)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.41966409G>ACA454662637GLI3c.2664C>T (p.Asn888=)
c.2490C>T (p.Asn830=)
n.2641C>T
c.2487C>T (p.Asn829=)
c.2661C>T (p.Asn887=)
 gnomAD v4
7g.41966409G>CCA156907522GLI3c.2664C>G (p.Asn888Lys)
c.2490C>G (p.Asn830Lys)
n.2641C>G
c.2487C>G (p.Asn829Lys)
c.2661C>G (p.Asn887Lys)
 dbSNP
7g.41966409G=CA1702661285GLI3c.2664C= (p.Asn888=)
c.2490C= (p.Asn830=)
n.2641C=
c.2487C= (p.Asn829=)
c.2661C= (p.Asn887=)
7g.41966409G>TCA367320607GLI3c.2664C>A (p.Asn888Lys)
c.2490C>A (p.Asn830Lys)
n.2641C>A
c.2487C>A (p.Asn829Lys)
c.2661C>A (p.Asn887Lys)
7g.41966410T>ACA367320608GLI3c.2663A>T (p.Asn888Ile)
c.2489A>T (p.Asn830Ile)
n.2640A>T
c.2486A>T (p.Asn829Ile)
c.2660A>T (p.Asn887Ile)
 gnomAD v4
7g.41966410T>CCA367320609GLI3c.2663A>G (p.Asn888Ser)
c.2489A>G (p.Asn830Ser)
n.2640A>G
c.2486A>G (p.Asn829Ser)
c.2660A>G (p.Asn887Ser)
 dbSNP gnomAD v3 gnomAD v4
7g.41966410T>GCA367320610GLI3c.2663A>C (p.Asn888Thr)
c.2489A>C (p.Asn830Thr)
n.2640A>C
c.2486A>C (p.Asn829Thr)
c.2660A>C (p.Asn887Thr)
7g.41966410T=CA1702661286GLI3c.2663A= (p.Asn888=)
c.2489A= (p.Asn830=)
n.2640A=
c.2486A= (p.Asn829=)
c.2660A= (p.Asn887=)
7g.41966411T>ACA367320613GLI3c.2662A>T (p.Asn888Tyr)
c.2488A>T (p.Asn830Tyr)
n.2639A>T
c.2485A>T (p.Asn829Tyr)
c.2659A>T (p.Asn887Tyr)
7g.41966411T>CCA367320612GLI3c.2662A>G (p.Asn888Asp)
c.2488A>G (p.Asn830Asp)
n.2639A>G
c.2485A>G (p.Asn829Asp)
c.2659A>G (p.Asn887Asp)
 dbSNP
7g.41966411T>GCA367320611GLI3c.2662A>C (p.Asn888His)
c.2488A>C (p.Asn830His)
n.2639A>C
c.2485A>C (p.Asn829His)
c.2659A>C (p.Asn887His)
 gnomAD v4
7g.41966411T=CA1702661287GLI3c.2662A= (p.Asn888=)
c.2488A= (p.Asn830=)
n.2639A=
c.2485A= (p.Asn829=)
c.2659A= (p.Asn887=)
7g.41966412C>ACA367320614GLI3c.2661G>T (p.Gln887His)
c.2487G>T (p.Gln829His)
n.2638G>T
c.2484G>T (p.Gln828His)
c.2658G>T (p.Gln886His)
7g.41966412C>GCA367320615GLI3c.2661G>C (p.Gln887His)
c.2487G>C (p.Gln829His)
n.2638G>C
c.2484G>C (p.Gln828His)
c.2658G>C (p.Gln886His)
7g.41966412C>TCA454662638GLI3c.2661G>A (p.Gln887=)
c.2487G>A (p.Gln829=)
n.2638G>A
c.2484G>A (p.Gln828=)
c.2658G>A (p.Gln886=)
 COSMIC
7g.41966413T>ACA367320616GLI3c.2660A>T (p.Gln887Leu)
c.2486A>T (p.Gln829Leu)
n.2637A>T
c.2483A>T (p.Gln828Leu)
c.2657A>T (p.Gln886Leu)
 gnomAD v4
7g.41966413T>CCA367320617GLI3c.2660A>G (p.Gln887Arg)
c.2486A>G (p.Gln829Arg)
n.2637A>G
c.2483A>G (p.Gln828Arg)
c.2657A>G (p.Gln886Arg)
7g.41966413T>GCA367320618GLI3c.2660A>C (p.Gln887Pro)
c.2486A>C (p.Gln829Pro)
n.2637A>C
c.2483A>C (p.Gln828Pro)
c.2657A>C (p.Gln886Pro)
 gnomAD v4
7g.41966414G>ACA367320619GLI3c.2659C>T (p.Gln887Ter)
c.2485C>T (p.Gln829Ter)
n.2636C>T
c.2482C>T (p.Gln828Ter)
c.2656C>T (p.Gln886Ter)
7g.41966414G>CCA367320620GLI3c.2659C>G (p.Gln887Glu)
c.2485C>G (p.Gln829Glu)
n.2636C>G
c.2482C>G (p.Gln828Glu)
c.2656C>G (p.Gln886Glu)
7g.41966414G=CA1702661288GLI3c.2659C= (p.Gln887=)
c.2485C= (p.Gln829=)
n.2636C=
c.2482C= (p.Gln828=)
c.2656C= (p.Gln886=)
7g.41966414G>TCA4230552GLI3c.2659C>A (p.Gln887Lys)
c.2485C>A (p.Gln829Lys)
n.2636C>A
c.2482C>A (p.Gln828Lys)
c.2656C>A (p.Gln886Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966415C>ACA4230553GLI3c.2658G>T (p.Pro886=)
c.2484G>T (p.Pro828=)
n.2635G>T
c.2481G>T (p.Pro827=)
c.2655G>T (p.Pro885=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966415C=CA1702661289GLI3c.2658G= (p.Pro886=)
c.2484G= (p.Pro828=)
n.2635G=
c.2481G= (p.Pro827=)
c.2655G= (p.Pro885=)
7g.41966415C>GCA454662642GLI3c.2658G>C (p.Pro886=)
c.2484G>C (p.Pro828=)
n.2635G>C
c.2481G>C (p.Pro827=)
c.2655G>C (p.Pro885=)
7g.41966415C>TCA4230554GLI3c.2658G>A (p.Pro886=)
c.2484G>A (p.Pro828=)
n.2635G>A
c.2481G>A (p.Pro827=)
c.2655G>A (p.Pro885=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41966416G>ACA367320621GLI3c.2657C>T (p.Pro886Leu)
c.2483C>T (p.Pro828Leu)
n.2634C>T
c.2480C>T (p.Pro827Leu)
c.2654C>T (p.Pro885Leu)
 gnomAD v4 COSMIC
7g.41966416G>CCA367320622GLI3c.2657C>G (p.Pro886Arg)
c.2483C>G (p.Pro828Arg)
n.2634C>G
c.2480C>G (p.Pro827Arg)
c.2654C>G (p.Pro885Arg)
7g.41966416G>TCA367320623GLI3c.2657C>A (p.Pro886Gln)
c.2483C>A (p.Pro828Gln)
n.2634C>A
c.2480C>A (p.Pro827Gln)
c.2654C>A (p.Pro885Gln)
7g.41966417G>ACA4230555GLI3c.2656C>T (p.Pro886Ser)
c.2482C>T (p.Pro828Ser)
n.2633C>T
c.2479C>T (p.Pro827Ser)
c.2653C>T (p.Pro885Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966417G>CCA367320625GLI3c.2656C>G (p.Pro886Ala)
c.2482C>G (p.Pro828Ala)
n.2633C>G
c.2479C>G (p.Pro827Ala)
c.2653C>G (p.Pro885Ala)
7g.41966417G=CA1702661290GLI3c.2656C= (p.Pro886=)
c.2482C= (p.Pro828=)
n.2633C=
c.2479C= (p.Pro827=)
c.2653C= (p.Pro885=)
7g.41966417G>TCA367320624GLI3c.2656C>A (p.Pro886Thr)
c.2482C>A (p.Pro828Thr)
n.2633C>A
c.2479C>A (p.Pro827Thr)
c.2653C>A (p.Pro885Thr)
 COSMIC
7g.41966418C>ACA454662645GLI3c.2655G>T (p.Arg885=)
c.2481G>T (p.Arg827=)
n.2632G>T
c.2478G>T (p.Arg826=)
c.2652G>T (p.Arg884=)
7g.41966418C=CA1702661291GLI3c.2655G= (p.Arg885=)
c.2481G= (p.Arg827=)
n.2632G=
c.2478G= (p.Arg826=)
c.2652G= (p.Arg884=)
7g.41966418C>GCA454662646GLI3c.2655G>C (p.Arg885=)
c.2481G>C (p.Arg827=)
n.2632G>C
c.2478G>C (p.Arg826=)
c.2652G>C (p.Arg884=)
7g.41966418C>TCA454662648GLI3c.2655G>A (p.Arg885=)
c.2481G>A (p.Arg827=)
n.2632G>A
c.2478G>A (p.Arg826=)
c.2652G>A (p.Arg884=)
 dbSNP gnomAD v2 gnomAD v4
7g.41966419C>ACA367320626GLI3c.2654G>T (p.Arg885Leu)
c.2480G>T (p.Arg827Leu)
n.2631G>T
c.2477G>T (p.Arg826Leu)
c.2651G>T (p.Arg884Leu)
 gnomAD v4 COSMIC
7g.41966419C=CA1702661292GLI3c.2654G= (p.Arg885=)
c.2480G= (p.Arg827=)
n.2631G=
c.2477G= (p.Arg826=)
c.2651G= (p.Arg884=)
7g.41966419C>GCA367320627GLI3c.2654G>C (p.Arg885Pro)
c.2480G>C (p.Arg827Pro)
n.2631G>C
c.2477G>C (p.Arg826Pro)
c.2651G>C (p.Arg884Pro)
7g.41966419C>TCA4230556GLI3c.2654G>A (p.Arg885Gln)
c.2480G>A (p.Arg827Gln)
n.2631G>A
c.2477G>A (p.Arg826Gln)
c.2651G>A (p.Arg884Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966420G>ACA367320628GLI3c.2653C>T (p.Arg885Trp)
c.2479C>T (p.Arg827Trp)
n.2630C>T
c.2476C>T (p.Arg826Trp)
c.2650C>T (p.Arg884Trp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.41966420G>CCA367320629GLI3c.2653C>G (p.Arg885Gly)
c.2479C>G (p.Arg827Gly)
n.2630C>G
c.2476C>G (p.Arg826Gly)
c.2650C>G (p.Arg884Gly)
7g.41966420G=CA1702661293GLI3c.2653C= (p.Arg885=)
c.2479C= (p.Arg827=)
n.2630C=
c.2476C= (p.Arg826=)
c.2650C= (p.Arg884=)
7g.41966420G>TCA454662649GLI3c.2653C>A (p.Arg885=)
c.2479C>A (p.Arg827=)
n.2630C>A
c.2476C>A (p.Arg826=)
c.2650C>A (p.Arg884=)
 dbSNP gnomAD v2 gnomAD v4
7g.41966421_41966432delCA2682510201GLI3c.2642_2653del (p.Gln881_Gly884del)
c.2468_2479del (p.Gln823_Gly826del)
n.2619_2630del
c.2465_2476del (p.Gln822_Gly825del)
c.2639_2650del (p.Gln880_Gly883del)
 gnomAD v4
7g.41966421G>ACA10604298GLI3c.2652C>T (p.Gly884=)
c.2478C>T (p.Gly826=)
n.2629C>T
c.2475C>T (p.Gly825=)
c.2649C>T (p.Gly883=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41966421G>CCA454662651GLI3c.2652C>G (p.Gly884=)
c.2478C>G (p.Gly826=)
n.2629C>G
c.2475C>G (p.Gly825=)
c.2649C>G (p.Gly883=)
 gnomAD v4
7g.41966421G=CA1702661294GLI3c.2652C= (p.Gly884=)
c.2478C= (p.Gly826=)
n.2629C=
c.2475C= (p.Gly825=)
c.2649C= (p.Gly883=)
7g.41966421G>TCA454662650GLI3c.2652C>A (p.Gly884=)
c.2478C>A (p.Gly826=)
n.2629C>A
c.2475C>A (p.Gly825=)
c.2649C>A (p.Gly883=)
7g.41966422C>ACA367320630GLI3c.2651G>T (p.Gly884Val)
c.2477G>T (p.Gly826Val)
n.2628G>T
c.2474G>T (p.Gly825Val)
c.2648G>T (p.Gly883Val)
7g.41966422C=CA1702661295GLI3c.2651G= (p.Gly884=)
c.2477G= (p.Gly826=)
n.2628G=
c.2474G= (p.Gly825=)
c.2648G= (p.Gly883=)
7g.41966422C>GCA367320631GLI3c.2651G>C (p.Gly884Ala)
c.2477G>C (p.Gly826Ala)
n.2628G>C
c.2474G>C (p.Gly825Ala)
c.2648G>C (p.Gly883Ala)
7g.41966422C>TCA367320632GLI3c.2651G>A (p.Gly884Asp)
c.2477G>A (p.Gly826Asp)
n.2628G>A
c.2474G>A (p.Gly825Asp)
c.2648G>A (p.Gly883Asp)
 dbSNP gnomAD v2 gnomAD v4
7g.41966423C>ACA367320633GLI3c.2650G>T (p.Gly884Cys)
c.2476G>T (p.Gly826Cys)
n.2627G>T
c.2473G>T (p.Gly825Cys)
c.2647G>T (p.Gly883Cys)
7g.41966423C>GCA367320634GLI3c.2650G>C (p.Gly884Arg)
c.2476G>C (p.Gly826Arg)
n.2627G>C
c.2473G>C (p.Gly825Arg)
c.2647G>C (p.Gly883Arg)
7g.41966423C>TCA367320635GLI3c.2650G>A (p.Gly884Ser)
c.2476G>A (p.Gly826Ser)
n.2627G>A
c.2473G>A (p.Gly825Ser)
c.2647G>A (p.Gly883Ser)
 gnomAD v4
7g.41966424C>ACA367320636GLI3c.2649G>T (p.Glu883Asp)
c.2475G>T (p.Glu825Asp)
n.2626G>T
c.2472G>T (p.Glu824Asp)
c.2646G>T (p.Glu882Asp)
 dbSNP gnomAD v3 gnomAD v4
7g.41966424C=CA1702661296GLI3c.2649G= (p.Glu883=)
c.2475G= (p.Glu825=)
n.2626G=
c.2472G= (p.Glu824=)
c.2646G= (p.Glu882=)
7g.41966424C>GCA367320637GLI3c.2649G>C (p.Glu883Asp)
c.2475G>C (p.Glu825Asp)
n.2626G>C
c.2472G>C (p.Glu824Asp)
c.2646G>C (p.Glu882Asp)
 gnomAD v4
7g.41966424C>TCA454662653GLI3c.2649G>A (p.Glu883=)
c.2475G>A (p.Glu825=)
n.2626G>A
c.2472G>A (p.Glu824=)
c.2646G>A (p.Glu882=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41966425T>ACA367320639GLI3c.2648A>T (p.Glu883Val)
c.2474A>T (p.Glu825Val)
n.2625A>T
c.2471A>T (p.Glu824Val)
c.2645A>T (p.Glu882Val)
7g.41966425T>CCA367320640GLI3c.2648A>G (p.Glu883Gly)
c.2474A>G (p.Glu825Gly)
n.2625A>G
c.2471A>G (p.Glu824Gly)
c.2645A>G (p.Glu882Gly)
7g.41966425T>GCA367320638GLI3c.2648A>C (p.Glu883Ala)
c.2474A>C (p.Glu825Ala)
n.2625A>C
c.2471A>C (p.Glu824Ala)
c.2645A>C (p.Glu882Ala)
7g.41966426C>ACA367320641GLI3c.2647G>T (p.Glu883Ter)
c.2473G>T (p.Glu825Ter)
n.2624G>T
c.2470G>T (p.Glu824Ter)
c.2644G>T (p.Glu882Ter)
 ClinVar dbSNP
7g.41966426C=CA1702661297GLI3c.2647G= (p.Glu883=)
c.2473G= (p.Glu825=)
n.2624G=
c.2470G= (p.Glu824=)
c.2644G= (p.Glu882=)
7g.41966426C>GCA367320642GLI3c.2647G>C (p.Glu883Gln)
c.2473G>C (p.Glu825Gln)
n.2624G>C
c.2470G>C (p.Glu824Gln)
c.2644G>C (p.Glu882Gln)
7g.41966426C>TCA367320643GLI3c.2647G>A (p.Glu883Lys)
c.2473G>A (p.Glu825Lys)
n.2624G>A
c.2470G>A (p.Glu824Lys)
c.2644G>A (p.Glu882Lys)
 dbSNP gnomAD v4 COSMIC
7g.41966427G>ACA454662654GLI3c.2646C>T (p.Ala882=)
c.2472C>T (p.Ala824=)
n.2623C>T
c.2469C>T (p.Ala823=)
c.2643C>T (p.Ala881=)
 gnomAD v4
7g.41966427G>CCA454662656GLI3c.2646C>G (p.Ala882=)
c.2472C>G (p.Ala824=)
n.2623C>G
c.2469C>G (p.Ala823=)
c.2643C>G (p.Ala881=)
7g.41966427G>TCA454662657GLI3c.2646C>A (p.Ala882=)
c.2472C>A (p.Ala824=)
n.2623C>A
c.2469C>A (p.Ala823=)
c.2643C>A (p.Ala881=)
7g.41966428G>ACA367320644GLI3c.2645C>T (p.Ala882Val)
c.2471C>T (p.Ala824Val)
n.2622C>T
c.2468C>T (p.Ala823Val)
c.2642C>T (p.Ala881Val)
 gnomAD v4
7g.41966428G>CCA367320645GLI3c.2645C>G (p.Ala882Gly)
c.2471C>G (p.Ala824Gly)
n.2622C>G
c.2468C>G (p.Ala823Gly)
c.2642C>G (p.Ala881Gly)
 dbSNP gnomAD v2 gnomAD v4
7g.41966428G=CA1702661298GLI3c.2645C= (p.Ala882=)
c.2471C= (p.Ala824=)
n.2622C=
c.2468C= (p.Ala823=)
c.2642C= (p.Ala881=)
7g.41966428G>TCA367320646GLI3c.2645C>A (p.Ala882Asp)
c.2471C>A (p.Ala824Asp)
n.2622C>A
c.2468C>A (p.Ala823Asp)
c.2642C>A (p.Ala881Asp)
7g.41966429C>ACA367320647GLI3c.2644G>T (p.Ala882Ser)
c.2470G>T (p.Ala824Ser)
n.2621G>T
c.2467G>T (p.Ala823Ser)
c.2641G>T (p.Ala881Ser)
7g.41966429C>GCA367320648GLI3c.2644G>C (p.Ala882Pro)
c.2470G>C (p.Ala824Pro)
n.2621G>C
c.2467G>C (p.Ala823Pro)
c.2641G>C (p.Ala881Pro)
7g.41966429C>TCA367320649GLI3c.2644G>A (p.Ala882Thr)
c.2470G>A (p.Ala824Thr)
n.2621G>A
c.2467G>A (p.Ala823Thr)
c.2641G>A (p.Ala881Thr)
7g.41966430C>ACA367320650GLI3c.2643G>T (p.Gln881His)
c.2469G>T (p.Gln823His)
n.2620G>T
c.2466G>T (p.Gln822His)
c.2640G>T (p.Gln880His)
7g.41966430C=CA1702661299GLI3c.2643G= (p.Gln881=)
c.2469G= (p.Gln823=)
n.2620G=
c.2466G= (p.Gln822=)
c.2640G= (p.Gln880=)
7g.41966430C>GCA4230557GLI3c.2643G>C (p.Gln881His)
c.2469G>C (p.Gln823His)
n.2620G>C
c.2466G>C (p.Gln822His)
c.2640G>C (p.Gln880His)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41966430C>TCA454662660GLI3c.2643G>A (p.Gln881=)
c.2469G>A (p.Gln823=)
n.2620G>A
c.2466G>A (p.Gln822=)
c.2640G>A (p.Gln880=)
7g.41966431T>ACA367320652GLI3c.2642A>T (p.Gln881Leu)
c.2468A>T (p.Gln823Leu)
n.2619A>T
c.2465A>T (p.Gln822Leu)
c.2639A>T (p.Gln880Leu)
 gnomAD v4
7g.41966431T>CCA4230558GLI3c.2642A>G (p.Gln881Arg)
c.2468A>G (p.Gln823Arg)
n.2619A>G
c.2465A>G (p.Gln822Arg)
c.2639A>G (p.Gln880Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41966431T>GCA367320651GLI3c.2642A>C (p.Gln881Pro)
c.2468A>C (p.Gln823Pro)
n.2619A>C
c.2465A>C (p.Gln822Pro)
c.2639A>C (p.Gln880Pro)
7g.41966431T=CA1702661300GLI3c.2642A= (p.Gln881=)
c.2468A= (p.Gln823=)
n.2619A=
c.2465A= (p.Gln822=)
c.2639A= (p.Gln880=)
7g.41966433_41966434dupCA2695207664GLI3c.2641_2642dup (p.Gln881HisfsTer10)
c.2467_2468dup (p.Gln823HisfsTer10)
n.2618_2619dup
c.2464_2465dup (p.Gln822HisfsTer10)
c.2638_2639dup (p.Gln880HisfsTer10)
7g.41966432G>ACA367320653GLI3c.2641C>T (p.Gln881Ter)
c.2467C>T (p.Gln823Ter)
n.2618C>T
c.2464C>T (p.Gln822Ter)
c.2638C>T (p.Gln880Ter)
7g.41966432G>CCA367320654GLI3c.2641C>G (p.Gln881Glu)
c.2467C>G (p.Gln823Glu)
n.2618C>G
c.2464C>G (p.Gln822Glu)
c.2638C>G (p.Gln880Glu)
7g.41966432G>TCA367320655GLI3c.2641C>A (p.Gln881Lys)
c.2467C>A (p.Gln823Lys)
n.2618C>A
c.2464C>A (p.Gln822Lys)
c.2638C>A (p.Gln880Lys)
7g.41966433T>ACA454662664GLI3c.2640A>T (p.Ser880=)
c.2466A>T (p.Ser822=)
n.2617A>T
c.2463A>T (p.Ser821=)
c.2637A>T (p.Ser879=)
 gnomAD v4
7g.41966433T>CCA454662665GLI3c.2640A>G (p.Ser880=)
c.2466A>G (p.Ser822=)
n.2617A>G
c.2463A>G (p.Ser821=)
c.2637A>G (p.Ser879=)
7g.41966433T>GCA454662666GLI3c.2640A>C (p.Ser880=)
c.2466A>C (p.Ser822=)
n.2617A>C
c.2463A>C (p.Ser821=)
c.2637A>C (p.Ser879=)
7g.41966433T=CA1702661301GLI3c.2640A= (p.Ser880=)
c.2466A= (p.Ser822=)
n.2617A=
c.2463A= (p.Ser821=)
c.2637A= (p.Ser879=)
7g.41966434G>ACA367320656GLI3c.2639C>T (p.Ser880Leu)
c.2465C>T (p.Ser822Leu)
n.2616C>T
c.2462C>T (p.Ser821Leu)
c.2636C>T (p.Ser879Leu)
7g.41966434G>CCA367320657GLI3c.2639C>G (p.Ser880Ter)
c.2465C>G (p.Ser822Ter)
n.2616C>G
c.2462C>G (p.Ser821Ter)
c.2636C>G (p.Ser879Ter)
7g.41966434G>TCA367320658GLI3c.2639C>A (p.Ser880Ter)
c.2465C>A (p.Ser822Ter)
n.2616C>A
c.2462C>A (p.Ser821Ter)
c.2636C>A (p.Ser879Ter)
7g.41966435_41966437dupCA4230559GLI3c.2637_2639dup (p.Ser880_Gln881insSer)
c.2463_2465dup (p.Ser822_Gln823insSer)
n.2614_2616dup
c.2460_2462dup (p.Ser821_Gln822insSer)
c.2634_2636dup (p.Ser879_Gln880insSer)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41966435A>CCA367320659GLI3c.2638T>G (p.Ser880Ala)
c.2464T>G (p.Ser822Ala)
n.2615T>G
c.2461T>G (p.Ser821Ala)
c.2635T>G (p.Ser879Ala)
7g.41966435A>GCA367320660GLI3c.2638T>C (p.Ser880Pro)
c.2464T>C (p.Ser822Pro)
n.2615T>C
c.2461T>C (p.Ser821Pro)
c.2635T>C (p.Ser879Pro)
7g.41966435A>TCA367320661GLI3c.2638T>A (p.Ser880Thr)
c.2464T>A (p.Ser822Thr)
n.2615T>A
c.2461T>A (p.Ser821Thr)
c.2635T>A (p.Ser879Thr)
7g.41966436C>ACA454662668GLI3c.2637G>T (p.Ala879=)
c.2463G>T (p.Ala821=)
n.2614G>T
c.2460G>T (p.Ala820=)
c.2634G>T (p.Ala878=)
7g.41966436C=CA1702661302GLI3c.2637G= (p.Ala879=)
c.2463G= (p.Ala821=)
n.2614G=
c.2460G= (p.Ala820=)
c.2634G= (p.Ala878=)
7g.41966436C>GCA454662669GLI3c.2637G>C (p.Ala879=)
c.2463G>C (p.Ala821=)
n.2614G>C
c.2460G>C (p.Ala820=)
c.2634G>C (p.Ala878=)
7g.41966436C>TCA454662670GLI3c.2637G>A (p.Ala879=)
c.2463G>A (p.Ala821=)
n.2614G>A
c.2460G>A (p.Ala820=)
c.2634G>A (p.Ala878=)
 dbSNP gnomAD v3 gnomAD v4
7g.41966437G>ACA367320662GLI3c.2636C>T (p.Ala879Val)
c.2462C>T (p.Ala821Val)
n.2613C>T
c.2459C>T (p.Ala820Val)
c.2633C>T (p.Ala878Val)
 gnomAD v4 COSMIC
7g.41966437G>CCA367320663GLI3c.2636C>G (p.Ala879Gly)
c.2462C>G (p.Ala821Gly)
n.2613C>G
c.2459C>G (p.Ala820Gly)
c.2633C>G (p.Ala878Gly)
7g.41966437G>TCA367320664GLI3c.2636C>A (p.Ala879Glu)
c.2462C>A (p.Ala821Glu)
n.2613C>A
c.2459C>A (p.Ala820Glu)
c.2633C>A (p.Ala878Glu)
 dbSNP gnomAD v3 gnomAD v4
7g.41966438C>ACA367320665GLI3c.2635G>T (p.Ala879Ser)
c.2461G>T (p.Ala821Ser)
n.2612G>T
c.2458G>T (p.Ala820Ser)
c.2632G>T (p.Ala878Ser)
 dbSNP gnomAD v4
7g.41966438C=CA1702661303GLI3c.2635G= (p.Ala879=)
c.2461G= (p.Ala821=)
n.2612G=
c.2458G= (p.Ala820=)
c.2632G= (p.Ala878=)
7g.41966438C>GCA367320666GLI3c.2635G>C (p.Ala879Pro)
c.2461G>C (p.Ala821Pro)
n.2612G>C
c.2458G>C (p.Ala820Pro)
c.2632G>C (p.Ala878Pro)
7g.41966438C>TCA4230560GLI3c.2635G>A (p.Ala879Thr)
c.2461G>A (p.Ala821Thr)
n.2612G>A
c.2458G>A (p.Ala820Thr)
c.2632G>A (p.Ala878Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966439C>ACA367320668GLI3c.2634G>T (p.Glu878Asp)
c.2460G>T (p.Glu820Asp)
n.2611G>T
c.2457G>T (p.Glu819Asp)
c.2631G>T (p.Glu877Asp)
7g.41966439C=CA1702661304GLI3c.2634G= (p.Glu878=)
c.2460G= (p.Glu820=)
n.2611G=
c.2457G= (p.Glu819=)
c.2631G= (p.Glu877=)
7g.41966439C>GCA367320667GLI3c.2634G>C (p.Glu878Asp)
c.2460G>C (p.Glu820Asp)
n.2611G>C
c.2457G>C (p.Glu819Asp)
c.2631G>C (p.Glu877Asp)
7g.41966439C>TCA454662672GLI3c.2634G>A (p.Glu878=)
c.2460G>A (p.Glu820=)
n.2611G>A
c.2457G>A (p.Glu819=)
c.2631G>A (p.Glu877=)
 dbSNP gnomAD v4
7g.41966440T>ACA367320669GLI3c.2633A>T (p.Glu878Val)
c.2459A>T (p.Glu820Val)
n.2610A>T
c.2456A>T (p.Glu819Val)
c.2630A>T (p.Glu877Val)
7g.41966440T>CCA367320670GLI3c.2633A>G (p.Glu878Gly)
c.2459A>G (p.Glu820Gly)
n.2610A>G
c.2456A>G (p.Glu819Gly)
c.2630A>G (p.Glu877Gly)
7g.41966440T>GCA367320671GLI3c.2633A>C (p.Glu878Ala)
c.2459A>C (p.Glu820Ala)
n.2610A>C
c.2456A>C (p.Glu819Ala)
c.2630A>C (p.Glu877Ala)
7g.41966441delCA2580077127GLI3c.2632del (p.Glu878ArgfsTer12)
c.2458del (p.Glu820ArgfsTer12)
n.2609del
c.2455del (p.Glu819ArgfsTer12)
c.2629del (p.Glu877ArgfsTer12)
 ClinVar
7g.41966441C>ACA367320672GLI3c.2632G>T (p.Glu878Ter)
c.2458G>T (p.Glu820Ter)
n.2609G>T
c.2455G>T (p.Glu819Ter)
c.2629G>T (p.Glu877Ter)
7g.41966441C>GCA367320673GLI3c.2632G>C (p.Glu878Gln)
c.2458G>C (p.Glu820Gln)
n.2609G>C
c.2455G>C (p.Glu819Gln)
c.2629G>C (p.Glu877Gln)
 gnomAD v3 gnomAD v4
7g.41966441C>TCA367320674GLI3c.2632G>A (p.Glu878Lys)
c.2458G>A (p.Glu820Lys)
n.2609G>A
c.2455G>A (p.Glu819Lys)
c.2629G>A (p.Glu877Lys)
 gnomAD v4 COSMIC
7g.41966442G>ACA454662676GLI3c.2631C>T (p.Ser877=)
c.2457C>T (p.Ser819=)
n.2608C>T
c.2454C>T (p.Ser818=)
c.2628C>T (p.Ser876=)
 dbSNP
7g.41966442G>CCA367320676GLI3c.2631C>G (p.Ser877Arg)
c.2457C>G (p.Ser819Arg)
n.2608C>G
c.2454C>G (p.Ser818Arg)
c.2628C>G (p.Ser876Arg)
7g.41966442G=CA1702661305GLI3c.2631C= (p.Ser877=)
c.2457C= (p.Ser819=)
n.2608C=
c.2454C= (p.Ser818=)
c.2628C= (p.Ser876=)
7g.41966442G>TCA367320675GLI3c.2631C>A (p.Ser877Arg)
c.2457C>A (p.Ser819Arg)
n.2608C>A
c.2454C>A (p.Ser818Arg)
c.2628C>A (p.Ser876Arg)
 gnomAD v4
7g.41966443C>ACA367320677GLI3c.2630G>T (p.Ser877Ile)
c.2456G>T (p.Ser819Ile)
n.2607G>T
c.2453G>T (p.Ser818Ile)
c.2627G>T (p.Ser876Ile)
7g.41966443C>GCA367320678GLI3c.2630G>C (p.Ser877Thr)
c.2456G>C (p.Ser819Thr)
n.2607G>C
c.2453G>C (p.Ser818Thr)
c.2627G>C (p.Ser876Thr)
7g.41966443C>TCA367320679GLI3c.2630G>A (p.Ser877Asn)
c.2456G>A (p.Ser819Asn)
n.2607G>A
c.2453G>A (p.Ser818Asn)
c.2627G>A (p.Ser876Asn)
7g.41966444T>ACA367320680GLI3c.2629A>T (p.Ser877Cys)
c.2455A>T (p.Ser819Cys)
n.2606A>T
c.2452A>T (p.Ser818Cys)
c.2626A>T (p.Ser876Cys)
7g.41966444T>CCA367320681GLI3c.2629A>G (p.Ser877Gly)
c.2455A>G (p.Ser819Gly)
n.2606A>G
c.2452A>G (p.Ser818Gly)
c.2626A>G (p.Ser876Gly)
7g.41966444T>GCA367320682GLI3c.2629A>C (p.Ser877Arg)
c.2455A>C (p.Ser819Arg)
n.2606A>C
c.2452A>C (p.Ser818Arg)
c.2626A>C (p.Ser876Arg)
7g.41966444T=CA1702661307GLI3c.2629A= (p.Ser877=)
c.2455A= (p.Ser819=)
n.2606A=
c.2452A= (p.Ser818=)
c.2626A= (p.Ser876=)
7g.41966444_41966445delinsTGCA1702661306GLI3c.2628_2629delinsCA (p.Ser876=)
c.2454_2455delinsCA (p.Ser818=)
n.2605_2606delinsCA
c.2451_2452delinsCA (p.Ser817=)
c.2625_2626delinsCA (p.Ser875=)
7g.41966445G>ACA454662680GLI3c.2628C>T (p.Ser876=)
c.2454C>T (p.Ser818=)
n.2605C>T
c.2451C>T (p.Ser817=)
c.2625C>T (p.Ser875=)
 gnomAD v4
7g.41966445G>CCA454662681GLI3c.2628C>G (p.Ser876=)
c.2454C>G (p.Ser818=)
n.2605C>G
c.2451C>G (p.Ser817=)
c.2625C>G (p.Ser875=)
7g.41966445G>TCA454662682GLI3c.2628C>A (p.Ser876=)
c.2454C>A (p.Ser818=)
n.2605C>A
c.2451C>A (p.Ser817=)
c.2625C>A (p.Ser875=)
7g.41966446delCA342935GLI3c.2628del (p.Ser877AlafsTer13)
c.2454del (p.Ser819AlafsTer13)
n.2605del
c.2451del (p.Ser818AlafsTer13)
c.2625del (p.Ser876AlafsTer13)
 dbSNP
7g.41966458_41966493dupCA1702661308GLI3c.2593_2628dup (p.Ser876_Ser877insSerGlyIleSerProCysPheSerSerArgArgSer)
c.2419_2454dup (p.Ser818_Ser819insSerGlyIleSerProCysPheSerSerArgArgSer)
n.2570_2605dup
c.2416_2451dup (p.Ser817_Ser818insSerGlyIleSerProCysPheSerSerArgArgSer)
c.2590_2625dup (p.Ser875_Ser876insSerGlyIleSerProCysPheSerSerArgArgSer)
 ClinVar dbSNP gnomAD v4
7g.41966446G>ACA367320683GLI3c.2627C>T (p.Ser876Phe)
c.2453C>T (p.Ser818Phe)
n.2604C>T
c.2450C>T (p.Ser817Phe)
c.2624C>T (p.Ser875Phe)
 gnomAD v4
7g.41966446G>CCA367320685GLI3c.2627C>G (p.Ser876Cys)
c.2453C>G (p.Ser818Cys)
n.2604C>G
c.2450C>G (p.Ser817Cys)
c.2624C>G (p.Ser875Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41966446G=CA1702661309GLI3c.2627C= (p.Ser876=)
c.2453C= (p.Ser818=)
n.2604C=
c.2450C= (p.Ser817=)
c.2624C= (p.Ser875=)
7g.41966446G>TCA367320684GLI3c.2627C>A (p.Ser876Tyr)
c.2453C>A (p.Ser818Tyr)
n.2604C>A
c.2450C>A (p.Ser817Tyr)
c.2624C>A (p.Ser875Tyr)
 gnomAD v4
7g.41966447A>CCA367320686GLI3c.2626T>G (p.Ser876Ala)
c.2452T>G (p.Ser818Ala)
n.2603T>G
c.2449T>G (p.Ser817Ala)
c.2623T>G (p.Ser875Ala)
7g.41966447A>GCA367320687GLI3c.2626T>C (p.Ser876Pro)
c.2452T>C (p.Ser818Pro)
n.2603T>C
c.2449T>C (p.Ser817Pro)
c.2623T>C (p.Ser875Pro)
7g.41966447A>TCA367320688GLI3c.2626T>A (p.Ser876Thr)
c.2452T>A (p.Ser818Thr)
n.2603T>A
c.2449T>A (p.Ser817Thr)
c.2623T>A (p.Ser875Thr)
7g.41966448G>ACA454662686GLI3c.2625C>T (p.Arg875=)
c.2451C>T (p.Arg817=)
n.2602C>T
c.2448C>T (p.Arg816=)
c.2622C>T (p.Arg874=)
7g.41966448G>CCA156907544GLI3c.2625C>G (p.Arg875=)
c.2451C>G (p.Arg817=)
n.2602C>G
c.2448C>G (p.Arg816=)
c.2622C>G (p.Arg874=)
 ClinVar dbSNP
7g.41966448G=CA1702661310GLI3c.2625C= (p.Arg875=)
c.2451C= (p.Arg817=)
n.2602C=
c.2448C= (p.Arg816=)
c.2622C= (p.Arg874=)
7g.41966448G>TCA454662687GLI3c.2625C>A (p.Arg875=)
c.2451C>A (p.Arg817=)
n.2602C>A
c.2448C>A (p.Arg816=)
c.2622C>A (p.Arg874=)
7g.41966449C>ACA367320689GLI3c.2624G>T (p.Arg875Leu)
c.2450G>T (p.Arg817Leu)
n.2601G>T
c.2447G>T (p.Arg816Leu)
c.2621G>T (p.Arg874Leu)
 ClinVar gnomAD v4 COSMIC
7g.41966449C=CA1702661311GLI3c.2624G= (p.Arg875=)
c.2450G= (p.Arg817=)
n.2601G=
c.2447G= (p.Arg816=)
c.2621G= (p.Arg874=)
7g.41966449C>GCA367320690GLI3c.2624G>C (p.Arg875Pro)
c.2450G>C (p.Arg817Pro)
n.2601G>C
c.2447G>C (p.Arg816Pro)
c.2621G>C (p.Arg874Pro)
 dbSNP
7g.41966449C>TCA367320691GLI3c.2624G>A (p.Arg875His)
c.2450G>A (p.Arg817His)
n.2601G>A
c.2447G>A (p.Arg816His)
c.2621G>A (p.Arg874His)
 gnomAD v4 COSMIC
7g.41966449_41966452delCA2695207665GLI3c.2621_2624del (p.Arg874ProfsTer15)
c.2447_2450del (p.Arg816ProfsTer15)
n.2598_2601del
c.2444_2447del (p.Arg815ProfsTer15)
c.2618_2621del (p.Arg873ProfsTer15)
7g.41966450G>ACA4230561GLI3c.2623C>T (p.Arg875Cys)
c.2449C>T (p.Arg817Cys)
n.2600C>T
c.2446C>T (p.Arg816Cys)
c.2620C>T (p.Arg874Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41966450G>CCA367320692GLI3c.2623C>G (p.Arg875Gly)
c.2449C>G (p.Arg817Gly)
n.2600C>G
c.2446C>G (p.Arg816Gly)
c.2620C>G (p.Arg874Gly)
7g.41966450G=CA1702661312GLI3c.2623C= (p.Arg875=)
c.2449C= (p.Arg817=)
n.2600C=
c.2446C= (p.Arg816=)
c.2620C= (p.Arg874=)
7g.41966450G>TCA367320693GLI3c.2623C>A (p.Arg875Ser)
c.2449C>A (p.Arg817Ser)
n.2600C>A
c.2446C>A (p.Arg816Ser)
c.2620C>A (p.Arg874Ser)
7g.41966451delCA2740097349GLI3c.2623del (p.Arg875AlafsTer15)
c.2449del (p.Arg817AlafsTer15)
n.2600del
c.2446del (p.Arg816AlafsTer15)
c.2620del (p.Arg874AlafsTer15)
 ClinVar
7g.41966450_41966461dupCA2682510252GLI3c.2612_2623dup (p.Arg874_Arg875insLeuSerSerArg)
c.2438_2449dup (p.Arg816_Arg817insLeuSerSerArg)
n.2589_2600dup
c.2435_2446dup (p.Arg815_Arg816insLeuSerSerArg)
c.2609_2620dup (p.Arg873_Arg874insLeuSerSerArg)
 gnomAD v4
7g.41966451G>ACA454662691GLI3c.2622C>T (p.Arg874=)
c.2448C>T (p.Arg816=)
n.2599C>T
c.2445C>T (p.Arg815=)
c.2619C>T (p.Arg873=)
7g.41966451G>CCA454662692GLI3c.2622C>G (p.Arg874=)
c.2448C>G (p.Arg816=)
n.2599C>G
c.2445C>G (p.Arg815=)
c.2619C>G (p.Arg873=)
7g.41966451G>TCA454662690GLI3c.2622C>A (p.Arg874=)
c.2448C>A (p.Arg816=)
n.2599C>A
c.2445C>A (p.Arg815=)
c.2619C>A (p.Arg873=)
7g.41966452C>ACA367320694GLI3c.2621G>T (p.Arg874Leu)
c.2447G>T (p.Arg816Leu)
n.2598G>T
c.2444G>T (p.Arg815Leu)
c.2618G>T (p.Arg873Leu)
7g.41966452C=CA1702661314GLI3c.2621G= (p.Arg874=)
c.2447G= (p.Arg816=)
n.2598G=
c.2444G= (p.Arg815=)
c.2618G= (p.Arg873=)
7g.41966452C>GCA367320695GLI3c.2621G>C (p.Arg874Pro)
c.2447G>C (p.Arg816Pro)
n.2598G>C
c.2444G>C (p.Arg815Pro)
c.2618G>C (p.Arg873Pro)
7g.41966452C>TCA367320696GLI3c.2621G>A (p.Arg874His)
c.2447G>A (p.Arg816His)
n.2598G>A
c.2444G>A (p.Arg815His)
c.2618G>A (p.Arg873His)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.41966452_41966453delinsCGCA1702661313GLI3c.2620_2621delinsCG (p.Arg874=)
c.2446_2447delinsCG (p.Arg816=)
n.2597_2598delinsCG
c.2443_2444delinsCG (p.Arg815=)
c.2617_2618delinsCG (p.Arg873=)
7g.41966453G>ACA367320697GLI3c.2620C>T (p.Arg874Cys)
c.2446C>T (p.Arg816Cys)
n.2597C>T
c.2443C>T (p.Arg815Cys)
c.2617C>T (p.Arg873Cys)
7g.41966453G>CCA367320698GLI3c.2620C>G (p.Arg874Gly)
c.2446C>G (p.Arg816Gly)
n.2597C>G
c.2443C>G (p.Arg815Gly)
c.2617C>G (p.Arg873Gly)
7g.41966453G>TCA367320699GLI3c.2620C>A (p.Arg874Ser)
c.2446C>A (p.Arg816Ser)
n.2597C>A
c.2443C>A (p.Arg815Ser)
c.2617C>A (p.Arg873Ser)
7g.41966454delCA342934GLI3c.2620del (p.Arg874AlafsTer16)
c.2446del (p.Arg816AlafsTer16)
n.2597del
c.2443del (p.Arg815AlafsTer16)
c.2617del (p.Arg873AlafsTer16)
 dbSNP
7g.41966454G>ACA454662695GLI3c.2619C>T (p.Ser873=)
c.2445C>T (p.Ser815=)
n.2596C>T
c.2442C>T (p.Ser814=)
c.2616C>T (p.Ser872=)
 gnomAD v4
7g.41966454G>CCA367320700GLI3c.2619C>G (p.Ser873Arg)
c.2445C>G (p.Ser815Arg)
n.2596C>G
c.2442C>G (p.Ser814Arg)
c.2616C>G (p.Ser872Arg)
7g.41966454G=CA1702661315GLI3c.2619C= (p.Ser873=)
c.2445C= (p.Ser815=)
n.2596C=
c.2442C= (p.Ser814=)
c.2616C= (p.Ser872=)
7g.41966454G>TCA4230562GLI3c.2619C>A (p.Ser873Arg)
c.2445C>A (p.Ser815Arg)
n.2596C>A
c.2442C>A (p.Ser814Arg)
c.2616C>A (p.Ser872Arg)
 dbSNP ExAC gnomAD v2 COSMIC
7g.41966455C>ACA367320701GLI3c.2618G>T (p.Ser873Ile)
c.2444G>T (p.Ser815Ile)
n.2595G>T
c.2441G>T (p.Ser814Ile)
c.2615G>T (p.Ser872Ile)
 gnomAD v4
7g.41966455C=CA1702661316GLI3c.2618G= (p.Ser873=)
c.2444G= (p.Ser815=)
n.2595G=
c.2441G= (p.Ser814=)
c.2615G= (p.Ser872=)
7g.41966455C>GCA367320702GLI3c.2618G>C (p.Ser873Thr)
c.2444G>C (p.Ser815Thr)
n.2595G>C
c.2441G>C (p.Ser814Thr)
c.2615G>C (p.Ser872Thr)
 dbSNP
7g.41966455C>TCA4230563GLI3c.2618G>A (p.Ser873Asn)
c.2444G>A (p.Ser815Asn)
n.2595G>A
c.2441G>A (p.Ser814Asn)
c.2615G>A (p.Ser872Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41966455_41966456delCA645566068GLI3c.2617_2618del (p.Ser873ProfsTer?)
c.2443_2444del (p.Ser815ProfsTer?)
n.2594_2595del
c.2440_2441del (p.Ser814ProfsTer?)
c.2614_2615del (p.Ser872ProfsTer?)
 COSMIC
7g.41966456T>ACA367320703GLI3c.2617A>T (p.Ser873Cys)
c.2443A>T (p.Ser815Cys)
n.2594A>T
c.2440A>T (p.Ser814Cys)
c.2614A>T (p.Ser872Cys)
7g.41966456T>CCA367320704GLI3c.2617A>G (p.Ser873Gly)
c.2443A>G (p.Ser815Gly)
n.2594A>G
c.2440A>G (p.Ser814Gly)
c.2614A>G (p.Ser872Gly)
7g.41966456T>GCA367320705GLI3c.2617A>C (p.Ser873Arg)
c.2443A>C (p.Ser815Arg)
n.2594A>C
c.2440A>C (p.Ser814Arg)
c.2614A>C (p.Ser872Arg)
7g.41966457G>ACA454662696GLI3c.2616C>T (p.Ser872=)
c.2442C>T (p.Ser814=)
n.2593C>T
c.2439C>T (p.Ser813=)
c.2613C>T (p.Ser871=)
 gnomAD v4
7g.41966457G>CCA454662697GLI3c.2616C>G (p.Ser872=)
c.2442C>G (p.Ser814=)
n.2593C>G
c.2439C>G (p.Ser813=)
c.2613C>G (p.Ser871=)
7g.41966457G>TCA454662698GLI3c.2616C>A (p.Ser872=)
c.2442C>A (p.Ser814=)
n.2593C>A
c.2439C>A (p.Ser813=)
c.2613C>A (p.Ser871=)
7g.41966458_41966460delCA2596327538GLI3c.2614_2616del (p.Ser872del)
c.2440_2442del (p.Ser814del)
n.2591_2593del
c.2437_2439del (p.Ser813del)
c.2611_2613del (p.Ser871del)
 gnomAD v3 gnomAD v4
7g.41966458G>ACA367320706GLI3c.2615C>T (p.Ser872Phe)
c.2441C>T (p.Ser814Phe)
n.2592C>T
c.2438C>T (p.Ser813Phe)
c.2612C>T (p.Ser871Phe)
7g.41966458G>CCA367320707GLI3c.2615C>G (p.Ser872Cys)
c.2441C>G (p.Ser814Cys)
n.2592C>G
c.2438C>G (p.Ser813Cys)
c.2612C>G (p.Ser871Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.41966458G=CA1702661317GLI3c.2615C= (p.Ser872=)
c.2441C= (p.Ser814=)
n.2592C=
c.2438C= (p.Ser813=)
c.2612C= (p.Ser871=)
7g.41966458G>TCA367320708GLI3c.2615C>A (p.Ser872Tyr)
c.2441C>A (p.Ser814Tyr)
n.2592C>A
c.2438C>A (p.Ser813Tyr)
c.2612C>A (p.Ser871Tyr)
7g.41966459A=CA1702661318GLI3c.2614T= (p.Ser872=)
c.2440T= (p.Ser814=)
n.2591T=
c.2437T= (p.Ser813=)
c.2611T= (p.Ser871=)
7g.41966459A>CCA367320710GLI3c.2614T>G (p.Ser872Ala)
c.2440T>G (p.Ser814Ala)
n.2591T>G
c.2437T>G (p.Ser813Ala)
c.2611T>G (p.Ser871Ala)
7g.41966459A>GCA156907556GLI3c.2614T>C (p.Ser872Pro)
c.2440T>C (p.Ser814Pro)
n.2591T>C
c.2437T>C (p.Ser813Pro)
c.2611T>C (p.Ser871Pro)
 dbSNP gnomAD v4 COSMIC
7g.41966459A>TCA367320709GLI3c.2614T>A (p.Ser872Thr)
c.2440T>A (p.Ser814Thr)
n.2591T>A
c.2437T>A (p.Ser813Thr)
c.2611T>A (p.Ser871Thr)
7g.41966460G>ACA454662700GLI3c.2613C>T (p.Phe871=)
c.2439C>T (p.Phe813=)
n.2590C>T
c.2436C>T (p.Phe812=)
c.2610C>T (p.Phe870=)
7g.41966460G>CCA367320711GLI3c.2613C>G (p.Phe871Leu)
c.2439C>G (p.Phe813Leu)
n.2590C>G
c.2436C>G (p.Phe812Leu)
c.2610C>G (p.Phe870Leu)
7g.41966460G>TCA367320712GLI3c.2613C>A (p.Phe871Leu)
c.2439C>A (p.Phe813Leu)
n.2590C>A
c.2436C>A (p.Phe812Leu)
c.2610C>A (p.Phe870Leu)
7g.41966461A=CA1702661319GLI3c.2612T= (p.Phe871=)
c.2438T= (p.Phe813=)
n.2589T=
c.2435T= (p.Phe812=)
c.2609T= (p.Phe870=)
7g.41966461A>CCA367320713GLI3c.2612T>G (p.Phe871Cys)
c.2438T>G (p.Phe813Cys)
n.2589T>G
c.2435T>G (p.Phe812Cys)
c.2609T>G (p.Phe870Cys)
7g.41966461A>GCA367320714GLI3c.2612T>C (p.Phe871Ser)
c.2438T>C (p.Phe813Ser)
n.2589T>C
c.2435T>C (p.Phe812Ser)
c.2609T>C (p.Phe870Ser)
7g.41966461A>TCA367320715GLI3c.2612T>A (p.Phe871Tyr)
c.2438T>A (p.Phe813Tyr)
n.2589T>A
c.2435T>A (p.Phe812Tyr)
c.2609T>A (p.Phe870Tyr)
 dbSNP gnomAD v4
7g.41966462A>CCA367320718GLI3c.2611T>G (p.Phe871Val)
c.2437T>G (p.Phe813Val)
n.2588T>G
c.2434T>G (p.Phe812Val)
c.2608T>G (p.Phe870Val)
7g.41966462A>GCA367320716GLI3c.2611T>C (p.Phe871Leu)
c.2437T>C (p.Phe813Leu)
n.2588T>C
c.2434T>C (p.Phe812Leu)
c.2608T>C (p.Phe870Leu)
7g.41966462A>TCA367320717GLI3c.2611T>A (p.Phe871Ile)
c.2437T>A (p.Phe813Ile)
n.2588T>A
c.2434T>A (p.Phe812Ile)
c.2608T>A (p.Phe870Ile)
7g.41966463G>ACA454662703GLI3c.2610C>T (p.Cys870=)
c.2436C>T (p.Cys812=)
n.2587C>T
c.2433C>T (p.Cys811=)
c.2607C>T (p.Cys869=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41966463G>CCA367320719GLI3c.2610C>G (p.Cys870Trp)
c.2436C>G (p.Cys812Trp)
n.2587C>G
c.2433C>G (p.Cys811Trp)
c.2607C>G (p.Cys869Trp)
7g.41966463G=CA1702661320GLI3c.2610C= (p.Cys870=)
c.2436C= (p.Cys812=)
n.2587C=
c.2433C= (p.Cys811=)
c.2607C= (p.Cys869=)
7g.41966463G>TCA367320720GLI3c.2610C>A (p.Cys870Ter)
c.2436C>A (p.Cys812Ter)
n.2587C>A
c.2433C>A (p.Cys811Ter)
c.2607C>A (p.Cys869Ter)
 ClinVar
7g.41966464C>ACA367320721GLI3c.2609G>T (p.Cys870Phe)
c.2435G>T (p.Cys812Phe)
n.2586G>T
c.2432G>T (p.Cys811Phe)
c.2606G>T (p.Cys869Phe)
7g.41966464C>GCA367320722GLI3c.2609G>C (p.Cys870Ser)
c.2435G>C (p.Cys812Ser)
n.2586G>C
c.2432G>C (p.Cys811Ser)
c.2606G>C (p.Cys869Ser)
7g.41966464C>TCA367320723GLI3c.2609G>A (p.Cys870Tyr)
c.2435G>A (p.Cys812Tyr)
n.2586G>A
c.2432G>A (p.Cys811Tyr)
c.2606G>A (p.Cys869Tyr)
7g.41966465A>CCA367320724GLI3c.2608T>G (p.Cys870Gly)
c.2434T>G (p.Cys812Gly)
n.2585T>G
c.2431T>G (p.Cys811Gly)
c.2605T>G (p.Cys869Gly)
 ClinVar
7g.41966465A>GCA367320726GLI3c.2608T>C (p.Cys870Arg)
c.2434T>C (p.Cys812Arg)
n.2585T>C
c.2431T>C (p.Cys811Arg)
c.2605T>C (p.Cys869Arg)
7g.41966465A>TCA367320725GLI3c.2608T>A (p.Cys870Ser)
c.2434T>A (p.Cys812Ser)
n.2585T>A
c.2431T>A (p.Cys811Ser)
c.2605T>A (p.Cys869Ser)

Number of alleles fetched