Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.41965736G>ACA367318432GLI3c.3337C>T (p.Pro1113Ser)
c.3163C>T (p.Pro1055Ser)
n.3314C>T
c.3160C>T (p.Pro1054Ser)
c.3334C>T (p.Pro1112Ser)
 gnomAD v4
7g.41965736G>CCA367318434GLI3c.3337C>G (p.Pro1113Ala)
c.3163C>G (p.Pro1055Ala)
n.3314C>G
c.3160C>G (p.Pro1054Ala)
c.3334C>G (p.Pro1112Ala)
 gnomAD v4
7g.41965736G>TCA367318436GLI3c.3337C>A (p.Pro1113Thr)
c.3163C>A (p.Pro1055Thr)
n.3314C>A
c.3160C>A (p.Pro1054Thr)
c.3334C>A (p.Pro1112Thr)
7g.41965737G>ACA454662416GLI3c.3336C>T (p.Phe1112=)
c.3162C>T (p.Phe1054=)
n.3313C>T
c.3159C>T (p.Phe1053=)
c.3333C>T (p.Phe1111=)
 dbSNP
7g.41965737G>CCA367318439GLI3c.3336C>G (p.Phe1112Leu)
c.3162C>G (p.Phe1054Leu)
n.3313C>G
c.3159C>G (p.Phe1053Leu)
c.3333C>G (p.Phe1111Leu)
 dbSNP
7g.41965737G=CA1702660912GLI3c.3336C= (p.Phe1112=)
c.3162C= (p.Phe1054=)
n.3313C=
c.3159C= (p.Phe1053=)
c.3333C= (p.Phe1111=)
7g.41965737G>TCA367318441GLI3c.3336C>A (p.Phe1112Leu)
c.3162C>A (p.Phe1054Leu)
n.3313C>A
c.3159C>A (p.Phe1053Leu)
c.3333C>A (p.Phe1111Leu)
7g.41965738A=CA1702660913GLI3c.3335T= (p.Phe1112=)
c.3161T= (p.Phe1054=)
n.3312T=
c.3158T= (p.Phe1053=)
c.3332T= (p.Phe1111=)
7g.41965738A>CCA367318444GLI3c.3335T>G (p.Phe1112Cys)
c.3161T>G (p.Phe1054Cys)
n.3312T>G
c.3158T>G (p.Phe1053Cys)
c.3332T>G (p.Phe1111Cys)
7g.41965738A>GCA4230394GLI3c.3335T>C (p.Phe1112Ser)
c.3161T>C (p.Phe1054Ser)
n.3312T>C
c.3158T>C (p.Phe1053Ser)
c.3332T>C (p.Phe1111Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965738A>TCA367318448GLI3c.3335T>A (p.Phe1112Tyr)
c.3161T>A (p.Phe1054Tyr)
n.3312T>A
c.3158T>A (p.Phe1053Tyr)
c.3332T>A (p.Phe1111Tyr)
7g.41965739A>CCA367318451GLI3c.3334T>G (p.Phe1112Val)
c.3160T>G (p.Phe1054Val)
n.3311T>G
c.3157T>G (p.Phe1053Val)
c.3331T>G (p.Phe1111Val)
7g.41965739A>GCA367318453GLI3c.3334T>C (p.Phe1112Leu)
c.3160T>C (p.Phe1054Leu)
n.3311T>C
c.3157T>C (p.Phe1053Leu)
c.3331T>C (p.Phe1111Leu)
7g.41965739A>TCA367318455GLI3c.3334T>A (p.Phe1112Ile)
c.3160T>A (p.Phe1054Ile)
n.3311T>A
c.3157T>A (p.Phe1053Ile)
c.3331T>A (p.Phe1111Ile)
7g.41965740G>ACA454662418GLI3c.3333C>T (p.His1111=)
c.3159C>T (p.His1053=)
n.3310C>T
c.3156C>T (p.His1052=)
c.3330C>T (p.His1110=)
7g.41965740G>CCA367318457GLI3c.3333C>G (p.His1111Gln)
c.3159C>G (p.His1053Gln)
n.3310C>G
c.3156C>G (p.His1052Gln)
c.3330C>G (p.His1110Gln)
7g.41965740G>TCA367318459GLI3c.3333C>A (p.His1111Gln)
c.3159C>A (p.His1053Gln)
n.3310C>A
c.3156C>A (p.His1052Gln)
c.3330C>A (p.His1110Gln)
7g.41965741T>ACA367318468GLI3c.3332A>T (p.His1111Leu)
c.3158A>T (p.His1053Leu)
n.3309A>T
c.3155A>T (p.His1052Leu)
c.3329A>T (p.His1110Leu)
7g.41965741T>CCA367318466GLI3c.3332A>G (p.His1111Arg)
c.3158A>G (p.His1053Arg)
n.3309A>G
c.3155A>G (p.His1052Arg)
c.3329A>G (p.His1110Arg)
7g.41965741T>GCA367318464GLI3c.3332A>C (p.His1111Pro)
c.3158A>C (p.His1053Pro)
n.3309A>C
c.3155A>C (p.His1052Pro)
c.3329A>C (p.His1110Pro)
 dbSNP gnomAD v2
7g.41965741T=CA1702660914GLI3c.3332A= (p.His1111=)
c.3158A= (p.His1053=)
n.3309A=
c.3155A= (p.His1052=)
c.3329A= (p.His1110=)
7g.41965742G>ACA367318470GLI3c.3331C>T (p.His1111Tyr)
c.3157C>T (p.His1053Tyr)
n.3308C>T
c.3154C>T (p.His1052Tyr)
c.3328C>T (p.His1110Tyr)
7g.41965742G>CCA367318472GLI3c.3331C>G (p.His1111Asp)
c.3157C>G (p.His1053Asp)
n.3308C>G
c.3154C>G (p.His1052Asp)
c.3328C>G (p.His1110Asp)
 gnomAD v4
7g.41965742G>TCA367318474GLI3c.3331C>A (p.His1111Asn)
c.3157C>A (p.His1053Asn)
n.3308C>A
c.3154C>A (p.His1052Asn)
c.3328C>A (p.His1110Asn)
7g.41965743C>ACA367318475GLI3c.3330G>T (p.Gln1110His)
c.3156G>T (p.Gln1052His)
n.3307G>T
c.3153G>T (p.Gln1051His)
c.3327G>T (p.Gln1109His)
7g.41965743C>GCA367318477GLI3c.3330G>C (p.Gln1110His)
c.3156G>C (p.Gln1052His)
n.3307G>C
c.3153G>C (p.Gln1051His)
c.3327G>C (p.Gln1109His)
7g.41965743C>TCA454662425GLI3c.3330G>A (p.Gln1110=)
c.3156G>A (p.Gln1052=)
n.3307G>A
c.3153G>A (p.Gln1051=)
c.3327G>A (p.Gln1109=)
7g.41965744T>ACA367318480GLI3c.3329A>T (p.Gln1110Leu)
c.3155A>T (p.Gln1052Leu)
n.3306A>T
c.3152A>T (p.Gln1051Leu)
c.3326A>T (p.Gln1109Leu)
7g.41965744T>CCA4230395GLI3c.3329A>G (p.Gln1110Arg)
c.3155A>G (p.Gln1052Arg)
n.3306A>G
c.3152A>G (p.Gln1051Arg)
c.3326A>G (p.Gln1109Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965744T>GCA367318482GLI3c.3329A>C (p.Gln1110Pro)
c.3155A>C (p.Gln1052Pro)
n.3306A>C
c.3152A>C (p.Gln1051Pro)
c.3326A>C (p.Gln1109Pro)
 gnomAD v4
7g.41965744T=CA1702660915GLI3c.3329A= (p.Gln1110=)
c.3155A= (p.Gln1052=)
n.3306A=
c.3152A= (p.Gln1051=)
c.3326A= (p.Gln1109=)
7g.41965745G>ACA367318485GLI3c.3328C>T (p.Gln1110Ter)
c.3154C>T (p.Gln1052Ter)
n.3305C>T
c.3151C>T (p.Gln1051Ter)
c.3325C>T (p.Gln1109Ter)
7g.41965745G>CCA156904283GLI3c.3328C>G (p.Gln1110Glu)
c.3154C>G (p.Gln1052Glu)
n.3305C>G
c.3151C>G (p.Gln1051Glu)
c.3325C>G (p.Gln1109Glu)
 dbSNP
7g.41965745G=CA1702660916GLI3c.3328C= (p.Gln1110=)
c.3154C= (p.Gln1052=)
n.3305C=
c.3151C= (p.Gln1051=)
c.3325C= (p.Gln1109=)
7g.41965745G>TCA367318487GLI3c.3328C>A (p.Gln1110Lys)
c.3154C>A (p.Gln1052Lys)
n.3305C>A
c.3151C>A (p.Gln1051Lys)
c.3325C>A (p.Gln1109Lys)
7g.41965745_41965746insACCA454662431GLI3c.3327_3328insGT (p.Gln1110ValfsTer?)
c.3153_3154insGT (p.Gln1052ValfsTer?)
n.3304_3305insGT
c.3150_3151insGT (p.Gln1051ValfsTer?)
c.3324_3325insGT (p.Gln1109ValfsTer?)
7g.41965746C>ACA367318490GLI3c.3327G>T (p.Glu1109Asp)
c.3153G>T (p.Glu1051Asp)
n.3304G>T
c.3150G>T (p.Glu1050Asp)
c.3324G>T (p.Glu1108Asp)
7g.41965746C>GCA367318492GLI3c.3327G>C (p.Glu1109Asp)
c.3153G>C (p.Glu1051Asp)
n.3304G>C
c.3150G>C (p.Glu1050Asp)
c.3324G>C (p.Glu1108Asp)
7g.41965746C>TCA454662437GLI3c.3327G>A (p.Glu1109=)
c.3153G>A (p.Glu1051=)
n.3304G>A
c.3150G>A (p.Glu1050=)
c.3324G>A (p.Glu1108=)
7g.41965747T>ACA367318496GLI3c.3326A>T (p.Glu1109Val)
c.3152A>T (p.Glu1051Val)
n.3303A>T
c.3149A>T (p.Glu1050Val)
c.3323A>T (p.Glu1108Val)
7g.41965747T>CCA367318497GLI3c.3326A>G (p.Glu1109Gly)
c.3152A>G (p.Glu1051Gly)
n.3303A>G
c.3149A>G (p.Glu1050Gly)
c.3323A>G (p.Glu1108Gly)
 gnomAD v4
7g.41965747T>GCA367318494GLI3c.3326A>C (p.Glu1109Ala)
c.3152A>C (p.Glu1051Ala)
n.3303A>C
c.3149A>C (p.Glu1050Ala)
c.3323A>C (p.Glu1108Ala)
7g.41965748C>ACA367318501GLI3c.3325G>T (p.Glu1109Ter)
c.3151G>T (p.Glu1051Ter)
n.3302G>T
c.3148G>T (p.Glu1050Ter)
c.3322G>T (p.Glu1108Ter)
 ClinVar dbSNP
7g.41965748C=CA1702660917GLI3c.3325G= (p.Glu1109=)
c.3151G= (p.Glu1051=)
n.3302G=
c.3148G= (p.Glu1050=)
c.3322G= (p.Glu1108=)
7g.41965748C>GCA367318503GLI3c.3325G>C (p.Glu1109Gln)
c.3151G>C (p.Glu1051Gln)
n.3302G>C
c.3148G>C (p.Glu1050Gln)
c.3322G>C (p.Glu1108Gln)
7g.41965748C>TCA4230396GLI3c.3325G>A (p.Glu1109Lys)
c.3151G>A (p.Glu1051Lys)
n.3302G>A
c.3148G>A (p.Glu1050Lys)
c.3322G>A (p.Glu1108Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965749G>ACA454662445GLI3c.3324C>T (p.Tyr1108=)
c.3150C>T (p.Tyr1050=)
n.3301C>T
c.3147C>T (p.Tyr1049=)
c.3321C>T (p.Tyr1107=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.41965749G>CCA342940GLI3c.3324C>G (p.Tyr1108Ter)
c.3150C>G (p.Tyr1050Ter)
n.3301C>G
c.3147C>G (p.Tyr1049Ter)
c.3321C>G (p.Tyr1107Ter)
 ClinVar dbSNP
7g.41965749G=CA1702660918GLI3c.3324C= (p.Tyr1108=)
c.3150C= (p.Tyr1050=)
n.3301C=
c.3147C= (p.Tyr1049=)
c.3321C= (p.Tyr1107=)
7g.41965749G>TCA367318510GLI3c.3324C>A (p.Tyr1108Ter)
c.3150C>A (p.Tyr1050Ter)
n.3301C>A
c.3147C>A (p.Tyr1049Ter)
c.3321C>A (p.Tyr1107Ter)
 ClinVar dbSNP
7g.41965750T>ACA367318513GLI3c.3323A>T (p.Tyr1108Phe)
c.3149A>T (p.Tyr1050Phe)
n.3300A>T
c.3146A>T (p.Tyr1049Phe)
c.3320A>T (p.Tyr1107Phe)
7g.41965750T>CCA367318515GLI3c.3323A>G (p.Tyr1108Cys)
c.3149A>G (p.Tyr1050Cys)
n.3300A>G
c.3146A>G (p.Tyr1049Cys)
c.3320A>G (p.Tyr1107Cys)
7g.41965750T>GCA367318517GLI3c.3323A>C (p.Tyr1108Ser)
c.3149A>C (p.Tyr1050Ser)
n.3300A>C
c.3146A>C (p.Tyr1049Ser)
c.3320A>C (p.Tyr1107Ser)
7g.41965751A>CCA367318520GLI3c.3322T>G (p.Tyr1108Asp)
c.3148T>G (p.Tyr1050Asp)
n.3299T>G
c.3145T>G (p.Tyr1049Asp)
c.3319T>G (p.Tyr1107Asp)
7g.41965751A>GCA367318521GLI3c.3322T>C (p.Tyr1108His)
c.3148T>C (p.Tyr1050His)
n.3299T>C
c.3145T>C (p.Tyr1049His)
c.3319T>C (p.Tyr1107His)
7g.41965751A>TCA367318524GLI3c.3322T>A (p.Tyr1108Asn)
c.3148T>A (p.Tyr1050Asn)
n.3299T>A
c.3145T>A (p.Tyr1049Asn)
c.3319T>A (p.Tyr1107Asn)
7g.41965752C>ACA454662447GLI3c.3321G>T (p.Gly1107=)
c.3147G>T (p.Gly1049=)
n.3298G>T
c.3144G>T (p.Gly1048=)
c.3318G>T (p.Gly1106=)
 gnomAD v4
7g.41965752C=CA1702660919GLI3c.3321G= (p.Gly1107=)
c.3147G= (p.Gly1049=)
n.3298G=
c.3144G= (p.Gly1048=)
c.3318G= (p.Gly1106=)
7g.41965752C>GCA454662450GLI3c.3321G>C (p.Gly1107=)
c.3147G>C (p.Gly1049=)
n.3298G>C
c.3144G>C (p.Gly1048=)
c.3318G>C (p.Gly1106=)
 dbSNP
7g.41965752C>TCA454662451GLI3c.3321G>A (p.Gly1107=)
c.3147G>A (p.Gly1049=)
n.3298G>A
c.3144G>A (p.Gly1048=)
c.3318G>A (p.Gly1106=)
 gnomAD v4
7g.41965753C>ACA4230397GLI3c.3320G>T (p.Gly1107Val)
c.3146G>T (p.Gly1049Val)
n.3297G>T
c.3143G>T (p.Gly1048Val)
c.3317G>T (p.Gly1106Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965753C=CA1702660920GLI3c.3320G= (p.Gly1107=)
c.3146G= (p.Gly1049=)
n.3297G=
c.3143G= (p.Gly1048=)
c.3317G= (p.Gly1106=)
7g.41965753C>GCA367318529GLI3c.3320G>C (p.Gly1107Ala)
c.3146G>C (p.Gly1049Ala)
n.3297G>C
c.3143G>C (p.Gly1048Ala)
c.3317G>C (p.Gly1106Ala)
 dbSNP gnomAD v2 gnomAD v4
7g.41965753C>TCA367318527GLI3c.3320G>A (p.Gly1107Glu)
c.3146G>A (p.Gly1049Glu)
n.3297G>A
c.3143G>A (p.Gly1048Glu)
c.3317G>A (p.Gly1106Glu)
7g.41965754C>ACA367318533GLI3c.3319G>T (p.Gly1107Trp)
c.3145G>T (p.Gly1049Trp)
n.3296G>T
c.3142G>T (p.Gly1048Trp)
c.3316G>T (p.Gly1106Trp)
7g.41965754C=CA1702660921GLI3c.3319G= (p.Gly1107=)
c.3145G= (p.Gly1049=)
n.3296G=
c.3142G= (p.Gly1048=)
c.3316G= (p.Gly1106=)
7g.41965754C>GCA367318535GLI3c.3319G>C (p.Gly1107Arg)
c.3145G>C (p.Gly1049Arg)
n.3296G>C
c.3142G>C (p.Gly1048Arg)
c.3316G>C (p.Gly1106Arg)
 gnomAD v4
7g.41965754C>TCA156904291GLI3c.3319G>A (p.Gly1107Arg)
c.3145G>A (p.Gly1049Arg)
n.3296G>A
c.3142G>A (p.Gly1048Arg)
c.3316G>A (p.Gly1106Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41965755T>ACA454662452GLI3c.3318A>T (p.Ala1106=)
c.3144A>T (p.Ala1048=)
n.3295A>T
c.3141A>T (p.Ala1047=)
c.3315A>T (p.Ala1105=)
 dbSNP COSMIC
7g.41965755T>CCA454662453GLI3c.3318A>G (p.Ala1106=)
c.3144A>G (p.Ala1048=)
n.3295A>G
c.3141A>G (p.Ala1047=)
c.3315A>G (p.Ala1105=)
 gnomAD v4
7g.41965755T>GCA4230398GLI3c.3318A>C (p.Ala1106=)
c.3144A>C (p.Ala1048=)
n.3295A>C
c.3141A>C (p.Ala1047=)
c.3315A>C (p.Ala1105=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965755T=CA1702660922GLI3c.3318A= (p.Ala1106=)
c.3144A= (p.Ala1048=)
n.3295A=
c.3141A= (p.Ala1047=)
c.3315A= (p.Ala1105=)
7g.41965756G>ACA367318540GLI3c.3317C>T (p.Ala1106Val)
c.3143C>T (p.Ala1048Val)
n.3294C>T
c.3140C>T (p.Ala1047Val)
c.3314C>T (p.Ala1105Val)
 gnomAD v4
7g.41965756G>CCA367318543GLI3c.3317C>G (p.Ala1106Gly)
c.3143C>G (p.Ala1048Gly)
n.3294C>G
c.3140C>G (p.Ala1047Gly)
c.3314C>G (p.Ala1105Gly)
7g.41965756G>TCA367318544GLI3c.3317C>A (p.Ala1106Glu)
c.3143C>A (p.Ala1048Glu)
n.3294C>A
c.3140C>A (p.Ala1047Glu)
c.3314C>A (p.Ala1105Glu)
7g.41965757C>ACA367318548GLI3c.3316G>T (p.Ala1106Ser)
c.3142G>T (p.Ala1048Ser)
n.3293G>T
c.3139G>T (p.Ala1047Ser)
c.3313G>T (p.Ala1105Ser)
7g.41965757C>GCA367318550GLI3c.3316G>C (p.Ala1106Pro)
c.3142G>C (p.Ala1048Pro)
n.3293G>C
c.3139G>C (p.Ala1047Pro)
c.3313G>C (p.Ala1105Pro)
7g.41965757C>TCA367318552GLI3c.3316G>A (p.Ala1106Thr)
c.3142G>A (p.Ala1048Thr)
n.3293G>A
c.3139G>A (p.Ala1047Thr)
c.3313G>A (p.Ala1105Thr)
7g.41965758T>ACA367318555GLI3c.3315A>T (p.Gln1105His)
c.3141A>T (p.Gln1047His)
n.3292A>T
c.3138A>T (p.Gln1046His)
c.3312A>T (p.Gln1104His)
7g.41965758T>CCA454662464GLI3c.3315A>G (p.Gln1105=)
c.3141A>G (p.Gln1047=)
n.3292A>G
c.3138A>G (p.Gln1046=)
c.3312A>G (p.Gln1104=)
7g.41965758T>GCA367318557GLI3c.3315A>C (p.Gln1105His)
c.3141A>C (p.Gln1047His)
n.3292A>C
c.3138A>C (p.Gln1046His)
c.3312A>C (p.Gln1104His)
7g.41965759T>ACA367318564GLI3c.3314A>T (p.Gln1105Leu)
c.3140A>T (p.Gln1047Leu)
n.3291A>T
c.3137A>T (p.Gln1046Leu)
c.3311A>T (p.Gln1104Leu)
7g.41965759T>CCA367318562GLI3c.3314A>G (p.Gln1105Arg)
c.3140A>G (p.Gln1047Arg)
n.3291A>G
c.3137A>G (p.Gln1046Arg)
c.3311A>G (p.Gln1104Arg)
7g.41965759T>GCA367318560GLI3c.3314A>C (p.Gln1105Pro)
c.3140A>C (p.Gln1047Pro)
n.3291A>C
c.3137A>C (p.Gln1046Pro)
c.3311A>C (p.Gln1104Pro)
7g.41965760G>ACA367318567GLI3c.3313C>T (p.Gln1105Ter)
c.3139C>T (p.Gln1047Ter)
n.3290C>T
c.3136C>T (p.Gln1046Ter)
c.3310C>T (p.Gln1104Ter)
7g.41965760G>CCA367318570GLI3c.3313C>G (p.Gln1105Glu)
c.3139C>G (p.Gln1047Glu)
n.3290C>G
c.3136C>G (p.Gln1046Glu)
c.3310C>G (p.Gln1104Glu)
7g.41965760G>TCA367318569GLI3c.3313C>A (p.Gln1105Lys)
c.3139C>A (p.Gln1047Lys)
n.3290C>A
c.3136C>A (p.Gln1046Lys)
c.3310C>A (p.Gln1104Lys)
7g.41965761G>ACA4230399GLI3c.3312C>T (p.Asn1104=)
c.3138C>T (p.Asn1046=)
n.3289C>T
c.3135C>T (p.Asn1045=)
c.3309C>T (p.Asn1103=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965761G>CCA367318574GLI3c.3312C>G (p.Asn1104Lys)
c.3138C>G (p.Asn1046Lys)
n.3289C>G
c.3135C>G (p.Asn1045Lys)
c.3309C>G (p.Asn1103Lys)
7g.41965761G=CA1702660923GLI3c.3312C= (p.Asn1104=)
c.3138C= (p.Asn1046=)
n.3289C=
c.3135C= (p.Asn1045=)
c.3309C= (p.Asn1103=)
7g.41965761G>TCA367318576GLI3c.3312C>A (p.Asn1104Lys)
c.3138C>A (p.Asn1046Lys)
n.3289C>A
c.3135C>A (p.Asn1045Lys)
c.3309C>A (p.Asn1103Lys)
 COSMIC
7g.41965762T>ACA367318579GLI3c.3311A>T (p.Asn1104Ile)
c.3137A>T (p.Asn1046Ile)
n.3288A>T
c.3134A>T (p.Asn1045Ile)
c.3308A>T (p.Asn1103Ile)
7g.41965762T>CCA367318581GLI3c.3311A>G (p.Asn1104Ser)
c.3137A>G (p.Asn1046Ser)
n.3288A>G
c.3134A>G (p.Asn1045Ser)
c.3308A>G (p.Asn1103Ser)
 dbSNP gnomAD v4
7g.41965762T>GCA367318584GLI3c.3311A>C (p.Asn1104Thr)
c.3137A>C (p.Asn1046Thr)
n.3288A>C
c.3134A>C (p.Asn1045Thr)
c.3308A>C (p.Asn1103Thr)
7g.41965762T=CA1702660924GLI3c.3311A= (p.Asn1104=)
c.3137A= (p.Asn1046=)
n.3288A=
c.3134A= (p.Asn1045=)
c.3308A= (p.Asn1103=)
7g.41965763T>ACA367318586GLI3c.3310A>T (p.Asn1104Tyr)
c.3136A>T (p.Asn1046Tyr)
n.3287A>T
c.3133A>T (p.Asn1045Tyr)
c.3307A>T (p.Asn1103Tyr)
7g.41965763T>CCA367318588GLI3c.3310A>G (p.Asn1104Asp)
c.3136A>G (p.Asn1046Asp)
n.3287A>G
c.3133A>G (p.Asn1045Asp)
c.3307A>G (p.Asn1103Asp)
7g.41965763T>GCA367318590GLI3c.3310A>C (p.Asn1104His)
c.3136A>C (p.Asn1046His)
n.3287A>C
c.3133A>C (p.Asn1045His)
c.3307A>C (p.Asn1103His)
7g.41965764C>ACA367318591GLI3c.3309G>T (p.Gln1103His)
c.3135G>T (p.Gln1045His)
n.3286G>T
c.3132G>T (p.Gln1044His)
c.3306G>T (p.Gln1102His)
7g.41965764C>GCA367318593GLI3c.3309G>C (p.Gln1103His)
c.3135G>C (p.Gln1045His)
n.3286G>C
c.3132G>C (p.Gln1044His)
c.3306G>C (p.Gln1102His)
7g.41965764C>TCA454662467GLI3c.3309G>A (p.Gln1103=)
c.3135G>A (p.Gln1045=)
n.3286G>A
c.3132G>A (p.Gln1044=)
c.3306G>A (p.Gln1102=)
7g.41965765T>ACA367318600GLI3c.3308A>T (p.Gln1103Leu)
c.3134A>T (p.Gln1045Leu)
n.3285A>T
c.3131A>T (p.Gln1044Leu)
c.3305A>T (p.Gln1102Leu)
7g.41965765T>CCA367318595GLI3c.3308A>G (p.Gln1103Arg)
c.3134A>G (p.Gln1045Arg)
n.3285A>G
c.3131A>G (p.Gln1044Arg)
c.3305A>G (p.Gln1102Arg)
 gnomAD v4
7g.41965765T>GCA367318597GLI3c.3308A>C (p.Gln1103Pro)
c.3134A>C (p.Gln1045Pro)
n.3285A>C
c.3131A>C (p.Gln1044Pro)
c.3305A>C (p.Gln1102Pro)
7g.41965766G>ACA367318602GLI3c.3307C>T (p.Gln1103Ter)
c.3133C>T (p.Gln1045Ter)
n.3284C>T
c.3130C>T (p.Gln1044Ter)
c.3304C>T (p.Gln1102Ter)
7g.41965766G>CCA367318604GLI3c.3307C>G (p.Gln1103Glu)
c.3133C>G (p.Gln1045Glu)
n.3284C>G
c.3130C>G (p.Gln1044Glu)
c.3304C>G (p.Gln1102Glu)
7g.41965766G>TCA367318606GLI3c.3307C>A (p.Gln1103Lys)
c.3133C>A (p.Gln1045Lys)
n.3284C>A
c.3130C>A (p.Gln1044Lys)
c.3304C>A (p.Gln1102Lys)
7g.41965767G>ACA454662472GLI3c.3306C>T (p.Ser1102=)
c.3132C>T (p.Ser1044=)
n.3283C>T
c.3129C>T (p.Ser1043=)
c.3303C>T (p.Ser1101=)
7g.41965767G>CCA454662474GLI3c.3306C>G (p.Ser1102=)
c.3132C>G (p.Ser1044=)
n.3283C>G
c.3129C>G (p.Ser1043=)
c.3303C>G (p.Ser1101=)
 gnomAD v4
7g.41965767G>TCA454662477GLI3c.3306C>A (p.Ser1102=)
c.3132C>A (p.Ser1044=)
n.3283C>A
c.3129C>A (p.Ser1043=)
c.3303C>A (p.Ser1101=)
7g.41965768G>ACA367318607GLI3c.3305C>T (p.Ser1102Phe)
c.3131C>T (p.Ser1044Phe)
n.3282C>T
c.3128C>T (p.Ser1043Phe)
c.3302C>T (p.Ser1101Phe)
 COSMIC
7g.41965768G>CCA367318608GLI3c.3305C>G (p.Ser1102Cys)
c.3131C>G (p.Ser1044Cys)
n.3282C>G
c.3128C>G (p.Ser1043Cys)
c.3302C>G (p.Ser1101Cys)
 gnomAD v4
7g.41965768G=CA1702660925GLI3c.3305C= (p.Ser1102=)
c.3131C= (p.Ser1044=)
n.3282C=
c.3128C= (p.Ser1043=)
c.3302C= (p.Ser1101=)
7g.41965768G>TCA4230400GLI3c.3305C>A (p.Ser1102Tyr)
c.3131C>A (p.Ser1044Tyr)
n.3282C>A
c.3128C>A (p.Ser1043Tyr)
c.3302C>A (p.Ser1101Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965769A>CCA367318611GLI3c.3304T>G (p.Ser1102Ala)
c.3130T>G (p.Ser1044Ala)
n.3281T>G
c.3127T>G (p.Ser1043Ala)
c.3301T>G (p.Ser1101Ala)
7g.41965769A>GCA367318613GLI3c.3304T>C (p.Ser1102Pro)
c.3130T>C (p.Ser1044Pro)
n.3281T>C
c.3127T>C (p.Ser1043Pro)
c.3301T>C (p.Ser1101Pro)
7g.41965769A>TCA367318615GLI3c.3304T>A (p.Ser1102Thr)
c.3130T>A (p.Ser1044Thr)
n.3281T>A
c.3127T>A (p.Ser1043Thr)
c.3301T>A (p.Ser1101Thr)
7g.41965770A>CCA367318618GLI3c.3303T>G (p.Asn1101Lys)
c.3129T>G (p.Asn1043Lys)
n.3280T>G
c.3126T>G (p.Asn1042Lys)
c.3300T>G (p.Asn1100Lys)
7g.41965770A>GCA454662478GLI3c.3303T>C (p.Asn1101=)
c.3129T>C (p.Asn1043=)
n.3280T>C
c.3126T>C (p.Asn1042=)
c.3300T>C (p.Asn1100=)
7g.41965770A>TCA367318620GLI3c.3303T>A (p.Asn1101Lys)
c.3129T>A (p.Asn1043Lys)
n.3280T>A
c.3126T>A (p.Asn1042Lys)
c.3300T>A (p.Asn1100Lys)
7g.41965771T>ACA367318626GLI3c.3302A>T (p.Asn1101Ile)
c.3128A>T (p.Asn1043Ile)
n.3279A>T
c.3125A>T (p.Asn1042Ile)
c.3299A>T (p.Asn1100Ile)
 gnomAD v4
7g.41965771T>CCA367318628GLI3c.3302A>G (p.Asn1101Ser)
c.3128A>G (p.Asn1043Ser)
n.3279A>G
c.3125A>G (p.Asn1042Ser)
c.3299A>G (p.Asn1100Ser)
7g.41965771T>GCA367318624GLI3c.3302A>C (p.Asn1101Thr)
c.3128A>C (p.Asn1043Thr)
n.3279A>C
c.3125A>C (p.Asn1042Thr)
c.3299A>C (p.Asn1100Thr)
7g.41965773dupCA2695207641GLI3c.3302dup (p.Asn1101LysfsTer28)
c.3128dup (p.Asn1043LysfsTer28)
n.3279dup
c.3125dup (p.Asn1042LysfsTer28)
c.3299dup (p.Asn1100LysfsTer28)
7g.41965772T>ACA367318630GLI3c.3301A>T (p.Asn1101Tyr)
c.3127A>T (p.Asn1043Tyr)
n.3278A>T
c.3124A>T (p.Asn1042Tyr)
c.3298A>T (p.Asn1100Tyr)
7g.41965772T>CCA156904309GLI3c.3301A>G (p.Asn1101Asp)
c.3127A>G (p.Asn1043Asp)
n.3278A>G
c.3124A>G (p.Asn1042Asp)
c.3298A>G (p.Asn1100Asp)
 dbSNP gnomAD v4
7g.41965772T>GCA367318635GLI3c.3301A>C (p.Asn1101His)
c.3127A>C (p.Asn1043His)
n.3278A>C
c.3124A>C (p.Asn1042His)
c.3298A>C (p.Asn1100His)
 dbSNP gnomAD v4
7g.41965772T=CA1702660926GLI3c.3301A= (p.Asn1101=)
c.3127A= (p.Asn1043=)
n.3278A=
c.3124A= (p.Asn1042=)
c.3298A= (p.Asn1100=)
7g.41965773T>ACA367318637GLI3c.3300A>T (p.Leu1100Phe)
c.3126A>T (p.Leu1042Phe)
n.3277A>T
c.3123A>T (p.Leu1041Phe)
c.3297A>T (p.Leu1099Phe)
7g.41965773T>CCA454662488GLI3c.3300A>G (p.Leu1100=)
c.3126A>G (p.Leu1042=)
n.3277A>G
c.3123A>G (p.Leu1041=)
c.3297A>G (p.Leu1099=)
 gnomAD v4
7g.41965773T>GCA367318639GLI3c.3300A>C (p.Leu1100Phe)
c.3126A>C (p.Leu1042Phe)
n.3277A>C
c.3123A>C (p.Leu1041Phe)
c.3297A>C (p.Leu1099Phe)
7g.41965774A>CCA367318642GLI3c.3299T>G (p.Leu1100Ter)
c.3125T>G (p.Leu1042Ter)
n.3276T>G
c.3122T>G (p.Leu1041Ter)
c.3296T>G (p.Leu1099Ter)
7g.41965774A>GCA367318644GLI3c.3299T>C (p.Leu1100Ser)
c.3125T>C (p.Leu1042Ser)
n.3276T>C
c.3122T>C (p.Leu1041Ser)
c.3296T>C (p.Leu1099Ser)
7g.41965774A>TCA367318646GLI3c.3299T>A (p.Leu1100Ter)
c.3125T>A (p.Leu1042Ter)
n.3276T>A
c.3122T>A (p.Leu1041Ter)
c.3296T>A (p.Leu1099Ter)
7g.41965775A>CCA367318649GLI3c.3298T>G (p.Leu1100Val)
c.3124T>G (p.Leu1042Val)
n.3275T>G
c.3121T>G (p.Leu1041Val)
c.3295T>G (p.Leu1099Val)
7g.41965775A>GCA454662489GLI3c.3298T>C (p.Leu1100=)
c.3124T>C (p.Leu1042=)
n.3275T>C
c.3121T>C (p.Leu1041=)
c.3295T>C (p.Leu1099=)
7g.41965775A>TCA367318651GLI3c.3298T>A (p.Leu1100Ile)
c.3124T>A (p.Leu1042Ile)
n.3275T>A
c.3121T>A (p.Leu1041Ile)
c.3295T>A (p.Leu1099Ile)
7g.41965776A>CCA367318653GLI3c.3297T>G (p.Tyr1099Ter)
c.3123T>G (p.Tyr1041Ter)
n.3274T>G
c.3120T>G (p.Tyr1040Ter)
c.3294T>G (p.Tyr1098Ter)
7g.41965776A>GCA454662490GLI3c.3297T>C (p.Tyr1099=)
c.3123T>C (p.Tyr1041=)
n.3274T>C
c.3120T>C (p.Tyr1040=)
c.3294T>C (p.Tyr1098=)
7g.41965776A>TCA367318654GLI3c.3297T>A (p.Tyr1099Ter)
c.3123T>A (p.Tyr1041Ter)
n.3274T>A
c.3120T>A (p.Tyr1040Ter)
c.3294T>A (p.Tyr1098Ter)
7g.41965777T>ACA367318659GLI3c.3296A>T (p.Tyr1099Phe)
c.3122A>T (p.Tyr1041Phe)
n.3273A>T
c.3119A>T (p.Tyr1040Phe)
c.3293A>T (p.Tyr1098Phe)
7g.41965777T>CCA367318661GLI3c.3296A>G (p.Tyr1099Cys)
c.3122A>G (p.Tyr1041Cys)
n.3273A>G
c.3119A>G (p.Tyr1040Cys)
c.3293A>G (p.Tyr1098Cys)
 dbSNP
7g.41965777T>GCA367318657GLI3c.3296A>C (p.Tyr1099Ser)
c.3122A>C (p.Tyr1041Ser)
n.3273A>C
c.3119A>C (p.Tyr1040Ser)
c.3293A>C (p.Tyr1098Ser)
7g.41965777T=CA1702660927GLI3c.3296A= (p.Tyr1099=)
c.3122A= (p.Tyr1041=)
n.3273A=
c.3119A= (p.Tyr1040=)
c.3293A= (p.Tyr1098=)
7g.41965778A>CCA367318663GLI3c.3295T>G (p.Tyr1099Asp)
c.3121T>G (p.Tyr1041Asp)
n.3272T>G
c.3118T>G (p.Tyr1040Asp)
c.3292T>G (p.Tyr1098Asp)
7g.41965778A>GCA367318667GLI3c.3295T>C (p.Tyr1099His)
c.3121T>C (p.Tyr1041His)
n.3272T>C
c.3118T>C (p.Tyr1040His)
c.3292T>C (p.Tyr1098His)
7g.41965778A>TCA367318670GLI3c.3295T>A (p.Tyr1099Asn)
c.3121T>A (p.Tyr1041Asn)
n.3272T>A
c.3118T>A (p.Tyr1040Asn)
c.3292T>A (p.Tyr1098Asn)
 gnomAD v4
7g.41965779C>ACA367318673GLI3c.3294G>T (p.Gln1098His)
c.3120G>T (p.Gln1040His)
n.3271G>T
c.3117G>T (p.Gln1039His)
c.3291G>T (p.Gln1097His)
7g.41965779C=CA1702660928GLI3c.3294G= (p.Gln1098=)
c.3120G= (p.Gln1040=)
n.3271G=
c.3117G= (p.Gln1039=)
c.3291G= (p.Gln1097=)
7g.41965779C>GCA4230401GLI3c.3294G>C (p.Gln1098His)
c.3120G>C (p.Gln1040His)
n.3271G>C
c.3117G>C (p.Gln1039His)
c.3291G>C (p.Gln1097His)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965779C>TCA454662497GLI3c.3294G>A (p.Gln1098=)
c.3120G>A (p.Gln1040=)
n.3271G>A
c.3117G>A (p.Gln1039=)
c.3291G>A (p.Gln1097=)
 gnomAD v4
7g.41965780T>ACA367318681GLI3c.3293A>T (p.Gln1098Leu)
c.3119A>T (p.Gln1040Leu)
n.3270A>T
c.3116A>T (p.Gln1039Leu)
c.3290A>T (p.Gln1097Leu)
7g.41965780T>CCA4230402GLI3c.3293A>G (p.Gln1098Arg)
c.3119A>G (p.Gln1040Arg)
n.3270A>G
c.3116A>G (p.Gln1039Arg)
c.3290A>G (p.Gln1097Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965780T>GCA367318679GLI3c.3293A>C (p.Gln1098Pro)
c.3119A>C (p.Gln1040Pro)
n.3270A>C
c.3116A>C (p.Gln1039Pro)
c.3290A>C (p.Gln1097Pro)
7g.41965780T=CA1702660929GLI3c.3293A= (p.Gln1098=)
c.3119A= (p.Gln1040=)
n.3270A=
c.3116A= (p.Gln1039=)
c.3290A= (p.Gln1097=)
7g.41965780_41965781insACACA2775168981GLI3c.3292_3293insTGT (p.Gln1098LeufsTer2)
c.3118_3119insTGT (p.Gln1040LeufsTer2)
n.3269_3270insTGT
c.3115_3116insTGT (p.Gln1039LeufsTer2)
c.3289_3290insTGT (p.Gln1097LeufsTer2)
7g.41965780_41965781insACAGTGTAGTCATCTACTTTCTCAATAGTTATCGGTTTGTCACCAATCCATAAGTTTTTGAAGTTTCCATTTTCTTTTTTACA454662499GLI3c.3292_3293insTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATTGGTGACAAACCGATAACTATTGAGAAAGTAGATGACTACACTGT (p.Gln1098LeufsTer18)
c.3118_3119insTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATTGGTGACAAACCGATAACTATTGAGAAAGTAGATGACTACACTGT (p.Gln1040LeufsTer18)
n.3269_3270insTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATTGGTGACAAACCGATAACTATTGAGAAAGTAGATGACTACACTGT
c.3115_3116insTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATTGGTGACAAACCGATAACTATTGAGAAAGTAGATGACTACACTGT (p.Gln1039LeufsTer18)
c.3289_3290insTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATTGGTGACAAACCGATAACTATTGAGAAAGTAGATGACTACACTGT (p.Gln1097LeufsTer18)
7g.41965781G>ACA367318684GLI3c.3292C>T (p.Gln1098Ter)
c.3118C>T (p.Gln1040Ter)
n.3269C>T
c.3115C>T (p.Gln1039Ter)
c.3289C>T (p.Gln1097Ter)
7g.41965781G>CCA367318686GLI3c.3292C>G (p.Gln1098Glu)
c.3118C>G (p.Gln1040Glu)
n.3269C>G
c.3115C>G (p.Gln1039Glu)
c.3289C>G (p.Gln1097Glu)
 dbSNP gnomAD v3 gnomAD v4
7g.41965781G=CA1702660930GLI3c.3292C= (p.Gln1098=)
c.3118C= (p.Gln1040=)
n.3269C=
c.3115C= (p.Gln1039=)
c.3289C= (p.Gln1097=)
7g.41965781G>TCA367318688GLI3c.3292C>A (p.Gln1098Lys)
c.3118C>A (p.Gln1040Lys)
n.3269C>A
c.3115C>A (p.Gln1039Lys)
c.3289C>A (p.Gln1097Lys)
7g.41965781_41965782insTGTAGTCATCTACTTTCTCAATAGTTATCGGTTTGTCA2775168982GLI3c.3291_3292insACAAACCGATAACTATTGAGAAAGTAGATGACTACA
c.3117_3118insACAAACCGATAACTATTGAGAAAGTAGATGACTACA
n.3268_3269insACAAACCGATAACTATTGAGAAAGTAGATGACTACA
c.3114_3115insACAAACCGATAACTATTGAGAAAGTAGATGACTACA
c.3288_3289insACAAACCGATAACTATTGAGAAAGTAGATGACTACA
7g.41965782C>ACA454662503GLI3c.3291G>T (p.Val1097=)
c.3117G>T (p.Val1039=)
n.3268G>T
c.3114G>T (p.Val1038=)
c.3288G>T (p.Val1096=)
7g.41965782C=CA1702660931GLI3c.3291G= (p.Val1097=)
c.3117G= (p.Val1039=)
n.3268G=
c.3114G= (p.Val1038=)
c.3288G= (p.Val1096=)
7g.41965782C>GCA454662504GLI3c.3291G>C (p.Val1097=)
c.3117G>C (p.Val1039=)
n.3268G>C
c.3114G>C (p.Val1038=)
c.3288G>C (p.Val1096=)
7g.41965782C>TCA454662505GLI3c.3291G>A (p.Val1097=)
c.3117G>A (p.Val1039=)
n.3268G>A
c.3114G>A (p.Val1038=)
c.3288G>A (p.Val1096=)
 dbSNP gnomAD v2 gnomAD v4
7g.41965782_41965783insTTTTGTTTGGTAAGTGAAACA454662508GLI3c.3290_3291insTTTCACTTACCAAACAAAA (p.Gln1098PhefsTer?)
c.3116_3117insTTTCACTTACCAAACAAAA (p.Gln1040PhefsTer?)
n.3267_3268insTTTCACTTACCAAACAAAA
c.3113_3114insTTTCACTTACCAAACAAAA (p.Gln1039PhefsTer?)
c.3287_3288insTTTCACTTACCAAACAAAA (p.Gln1097PhefsTer?)
7g.41965783A=CA1702660932GLI3c.3290T= (p.Val1097=)
c.3116T= (p.Val1039=)
n.3267T=
c.3113T= (p.Val1038=)
c.3287T= (p.Val1096=)
7g.41965783A>CCA367318692GLI3c.3290T>G (p.Val1097Gly)
c.3116T>G (p.Val1039Gly)
n.3267T>G
c.3113T>G (p.Val1038Gly)
c.3287T>G (p.Val1096Gly)
7g.41965783A>GCA367318695GLI3c.3290T>C (p.Val1097Ala)
c.3116T>C (p.Val1039Ala)
n.3267T>C
c.3113T>C (p.Val1038Ala)
c.3287T>C (p.Val1096Ala)
 dbSNP
7g.41965783A>TCA367318697GLI3c.3290T>A (p.Val1097Glu)
c.3116T>A (p.Val1039Glu)
n.3267T>A
c.3113T>A (p.Val1038Glu)
c.3287T>A (p.Val1096Glu)
7g.41965784C>ACA367318703GLI3c.3289G>T (p.Val1097Leu)
c.3115G>T (p.Val1039Leu)
n.3266G>T
c.3112G>T (p.Val1038Leu)
c.3286G>T (p.Val1096Leu)
7g.41965784C=CA1702660933GLI3c.3289G= (p.Val1097=)
c.3115G= (p.Val1039=)
n.3266G=
c.3112G= (p.Val1038=)
c.3286G= (p.Val1096=)
7g.41965784C>GCA367318705GLI3c.3289G>C (p.Val1097Leu)
c.3115G>C (p.Val1039Leu)
n.3266G>C
c.3112G>C (p.Val1038Leu)
c.3286G>C (p.Val1096Leu)
7g.41965784C>TCA367318701GLI3c.3289G>A (p.Val1097Met)
c.3115G>A (p.Val1039Met)
n.3266G>A
c.3112G>A (p.Val1038Met)
c.3286G>A (p.Val1096Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41965785delCA2578897282GLI3c.3289del (p.Val1097CysfsTer4)
c.3115del (p.Val1039CysfsTer4)
n.3266del
c.3112del (p.Val1038CysfsTer4)
c.3286del (p.Val1096CysfsTer4)
7g.41965785C>ACA454662509GLI3c.3288G>T (p.Val1096=)
c.3114G>T (p.Val1038=)
n.3265G>T
c.3111G>T (p.Val1037=)
c.3285G>T (p.Val1095=)
7g.41965785C=CA1702660934GLI3c.3288G= (p.Val1096=)
c.3114G= (p.Val1038=)
n.3265G=
c.3111G= (p.Val1037=)
c.3285G= (p.Val1095=)
7g.41965785C>GCA454662510GLI3c.3288G>C (p.Val1096=)
c.3114G>C (p.Val1038=)
n.3265G>C
c.3111G>C (p.Val1037=)
c.3285G>C (p.Val1095=)
7g.41965785C>TCA156904334GLI3c.3288G>A (p.Val1096=)
c.3114G>A (p.Val1038=)
n.3265G>A
c.3111G>A (p.Val1037=)
c.3285G>A (p.Val1095=)
 dbSNP COSMIC
7g.41965786A=CA1702660935GLI3c.3287T= (p.Val1096=)
c.3113T= (p.Val1038=)
n.3264T=
c.3110T= (p.Val1037=)
c.3284T= (p.Val1095=)
7g.41965786A>CCA367318710GLI3c.3287T>G (p.Val1096Gly)
c.3113T>G (p.Val1038Gly)
n.3264T>G
c.3110T>G (p.Val1037Gly)
c.3284T>G (p.Val1095Gly)
7g.41965786A>GCA367318708GLI3c.3287T>C (p.Val1096Ala)
c.3113T>C (p.Val1038Ala)
n.3264T>C
c.3110T>C (p.Val1037Ala)
c.3284T>C (p.Val1095Ala)
7g.41965786A>TCA4230403GLI3c.3287T>A (p.Val1096Glu)
c.3113T>A (p.Val1038Glu)
n.3264T>A
c.3110T>A (p.Val1037Glu)
c.3284T>A (p.Val1095Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965786_41965787insATCCATAAGTTTTTGAAGTTTCCATTTTCTTTTTTAGCTTTTGTTTGATAAGTGAAAACTACA2775168983GLI3c.3287_3288insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT (p.Gln1098PhefsTer?)
c.3113_3114insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT (p.Gln1040PhefsTer?)
n.3264_3265insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT
c.3110_3111insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT (p.Gln1039PhefsTer?)
c.3284_3285insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT (p.Gln1097PhefsTer?)
7g.41965787C>ACA367318714GLI3c.3286G>T (p.Val1096Leu)
c.3112G>T (p.Val1038Leu)
n.3263G>T
c.3109G>T (p.Val1037Leu)
c.3283G>T (p.Val1095Leu)
7g.41965787C=CA1702660936GLI3c.3286G= (p.Val1096=)
c.3112G= (p.Val1038=)
n.3263G=
c.3109G= (p.Val1037=)
c.3283G= (p.Val1095=)
7g.41965787C>GCA367318716GLI3c.3286G>C (p.Val1096Leu)
c.3112G>C (p.Val1038Leu)
n.3263G>C
c.3109G>C (p.Val1037Leu)
c.3283G>C (p.Val1095Leu)
7g.41965787C>TCA4230404GLI3c.3286G>A (p.Val1096Met)
c.3112G>A (p.Val1038Met)
n.3263G>A
c.3109G>A (p.Val1037Met)
c.3283G>A (p.Val1095Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41965791_41965793dupCA2775168984GLI3c.3284_3286dup (p.Asp1095_Val1096insAsp)
c.3110_3112dup (p.Asp1037_Val1038insAsp)
n.3261_3263dup
c.3107_3109dup (p.Asp1036_Val1037insAsp)
c.3281_3283dup (p.Asp1094_Val1095insAsp)
7g.41965788G>ACA454662513GLI3c.3285C>T (p.Asp1095=)
c.3111C>T (p.Asp1037=)
n.3262C>T
c.3108C>T (p.Asp1036=)
c.3282C>T (p.Asp1094=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.41965788G>CCA367318718GLI3c.3285C>G (p.Asp1095Glu)
c.3111C>G (p.Asp1037Glu)
n.3262C>G
c.3108C>G (p.Asp1036Glu)
c.3282C>G (p.Asp1094Glu)
7g.41965788G=CA1702660937GLI3c.3285C= (p.Asp1095=)
c.3111C= (p.Asp1037=)
n.3262C=
c.3108C= (p.Asp1036=)
c.3282C= (p.Asp1094=)
7g.41965788G>TCA367318720GLI3c.3285C>A (p.Asp1095Glu)
c.3111C>A (p.Asp1037Glu)
n.3262C>A
c.3108C>A (p.Asp1036Glu)
c.3282C>A (p.Asp1094Glu)
7g.41965789T>ACA367318722GLI3c.3284A>T (p.Asp1095Val)
c.3110A>T (p.Asp1037Val)
n.3261A>T
c.3107A>T (p.Asp1036Val)
c.3281A>T (p.Asp1094Val)
7g.41965789T>CCA367318723GLI3c.3284A>G (p.Asp1095Gly)
c.3110A>G (p.Asp1037Gly)
n.3261A>G
c.3107A>G (p.Asp1036Gly)
c.3281A>G (p.Asp1094Gly)
 ClinVar dbSNP
7g.41965789T>GCA367318724GLI3c.3284A>C (p.Asp1095Ala)
c.3110A>C (p.Asp1037Ala)
n.3261A>C
c.3107A>C (p.Asp1036Ala)
c.3281A>C (p.Asp1094Ala)
 gnomAD v4
7g.41965789T=CA1702660938GLI3c.3284A= (p.Asp1095=)
c.3110A= (p.Asp1037=)
n.3261A=
c.3107A= (p.Asp1036=)
c.3281A= (p.Asp1094=)
7g.41965790C>ACA4230407GLI3c.3283G>T (p.Asp1095Tyr)
c.3109G>T (p.Asp1037Tyr)
n.3260G>T
c.3106G>T (p.Asp1036Tyr)
c.3280G>T (p.Asp1094Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965790C=CA1702660939GLI3c.3283G= (p.Asp1095=)
c.3109G= (p.Asp1037=)
n.3260G=
c.3106G= (p.Asp1036=)
c.3280G= (p.Asp1094=)
7g.41965790C>GCA4230405GLI3c.3283G>C (p.Asp1095His)
c.3109G>C (p.Asp1037His)
n.3260G>C
c.3106G>C (p.Asp1036His)
c.3280G>C (p.Asp1094His)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965790C>TCA4230406GLI3c.3283G>A (p.Asp1095Asn)
c.3109G>A (p.Asp1037Asn)
n.3260G>A
c.3106G>A (p.Asp1036Asn)
c.3280G>A (p.Asp1094Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41965791G>ACA4230408GLI3c.3282C>T (p.Asp1094=)
c.3108C>T (p.Asp1036=)
n.3259C>T
c.3105C>T (p.Asp1035=)
c.3279C>T (p.Asp1093=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965791G>CCA367318732GLI3c.3282C>G (p.Asp1094Glu)
c.3108C>G (p.Asp1036Glu)
n.3259C>G
c.3105C>G (p.Asp1035Glu)
c.3279C>G (p.Asp1093Glu)
 dbSNP gnomAD v4
7g.41965791G=CA1702660940GLI3c.3282C= (p.Asp1094=)
c.3108C= (p.Asp1036=)
n.3259C=
c.3105C= (p.Asp1035=)
c.3279C= (p.Asp1093=)
7g.41965791G>TCA367318734GLI3c.3282C>A (p.Asp1094Glu)
c.3108C>A (p.Asp1036Glu)
n.3259C>A
c.3105C>A (p.Asp1035Glu)
c.3279C>A (p.Asp1093Glu)
 dbSNP gnomAD v4
7g.41965792T>ACA367318743GLI3c.3281A>T (p.Asp1094Val)
c.3107A>T (p.Asp1036Val)
n.3258A>T
c.3104A>T (p.Asp1035Val)
c.3278A>T (p.Asp1093Val)
7g.41965792T>CCA367318741GLI3c.3281A>G (p.Asp1094Gly)
c.3107A>G (p.Asp1036Gly)
n.3258A>G
c.3104A>G (p.Asp1035Gly)
c.3278A>G (p.Asp1093Gly)
7g.41965792T>GCA367318738GLI3c.3281A>C (p.Asp1094Ala)
c.3107A>C (p.Asp1036Ala)
n.3258A>C
c.3104A>C (p.Asp1035Ala)
c.3278A>C (p.Asp1093Ala)
7g.41965793C>ACA367318745GLI3c.3280G>T (p.Asp1094Tyr)
c.3106G>T (p.Asp1036Tyr)
n.3257G>T
c.3103G>T (p.Asp1035Tyr)
c.3277G>T (p.Asp1093Tyr)
 COSMIC
7g.41965793C=CA1702660941GLI3c.3280G= (p.Asp1094=)
c.3106G= (p.Asp1036=)
n.3257G=
c.3103G= (p.Asp1035=)
c.3277G= (p.Asp1093=)
7g.41965793C>GCA367318747GLI3c.3280G>C (p.Asp1094His)
c.3106G>C (p.Asp1036His)
n.3257G>C
c.3103G>C (p.Asp1035His)
c.3277G>C (p.Asp1093His)
 dbSNP
7g.41965793C>TCA367318749GLI3c.3280G>A (p.Asp1094Asn)
c.3106G>A (p.Asp1036Asn)
n.3257G>A
c.3103G>A (p.Asp1035Asn)
c.3277G>A (p.Asp1093Asn)
7g.41965794C>ACA454662517GLI3c.3279G>T (p.Pro1093=)
c.3105G>T (p.Pro1035=)
n.3256G>T
c.3102G>T (p.Pro1034=)
c.3276G>T (p.Pro1092=)
7g.41965794C=CA1702660942GLI3c.3279G= (p.Pro1093=)
c.3105G= (p.Pro1035=)
n.3256G=
c.3102G= (p.Pro1034=)
c.3276G= (p.Pro1092=)
7g.41965794C>GCA454662518GLI3c.3279G>C (p.Pro1093=)
c.3105G>C (p.Pro1035=)
n.3256G>C
c.3102G>C (p.Pro1034=)
c.3276G>C (p.Pro1092=)
 dbSNP
7g.41965794C>TCA454662521GLI3c.3279G>A (p.Pro1093=)
c.3105G>A (p.Pro1035=)
n.3256G>A
c.3102G>A (p.Pro1034=)
c.3276G>A (p.Pro1092=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41965795G>ACA4230409GLI3c.3278C>T (p.Pro1093Leu)
c.3104C>T (p.Pro1035Leu)
n.3255C>T
c.3101C>T (p.Pro1034Leu)
c.3275C>T (p.Pro1092Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965795G>CCA367318753GLI3c.3278C>G (p.Pro1093Arg)
c.3104C>G (p.Pro1035Arg)
n.3255C>G
c.3101C>G (p.Pro1034Arg)
c.3275C>G (p.Pro1092Arg)
 gnomAD v4
7g.41965795G=CA1702660943GLI3c.3278C= (p.Pro1093=)
c.3104C= (p.Pro1035=)
n.3255C=
c.3101C= (p.Pro1034=)
c.3275C= (p.Pro1092=)
7g.41965795G>TCA367318756GLI3c.3278C>A (p.Pro1093Gln)
c.3104C>A (p.Pro1035Gln)
n.3255C>A
c.3101C>A (p.Pro1034Gln)
c.3275C>A (p.Pro1092Gln)
7g.41965796G>ACA367318759GLI3c.3277C>T (p.Pro1093Ser)
c.3103C>T (p.Pro1035Ser)
n.3254C>T
c.3100C>T (p.Pro1034Ser)
c.3274C>T (p.Pro1092Ser)
 COSMIC
7g.41965796G>CCA367318761GLI3c.3277C>G (p.Pro1093Ala)
c.3103C>G (p.Pro1035Ala)
n.3254C>G
c.3100C>G (p.Pro1034Ala)
c.3274C>G (p.Pro1092Ala)
7g.41965796G>TCA367318763GLI3c.3277C>A (p.Pro1093Thr)
c.3103C>A (p.Pro1035Thr)
n.3254C>A
c.3100C>A (p.Pro1034Thr)
c.3274C>A (p.Pro1092Thr)
7g.41965797C>ACA454662534GLI3c.3276G>T (p.Leu1092=)
c.3102G>T (p.Leu1034=)
n.3253G>T
c.3099G>T (p.Leu1033=)
c.3273G>T (p.Leu1091=)
7g.41965797C>GCA454662532GLI3c.3276G>C (p.Leu1092=)
c.3102G>C (p.Leu1034=)
n.3253G>C
c.3099G>C (p.Leu1033=)
c.3273G>C (p.Leu1091=)
7g.41965797C>TCA454662530GLI3c.3276G>A (p.Leu1092=)
c.3102G>A (p.Leu1034=)
n.3253G>A
c.3099G>A (p.Leu1033=)
c.3273G>A (p.Leu1091=)
7g.41965798A=CA1702660944GLI3c.3275T= (p.Leu1092=)
c.3101T= (p.Leu1034=)
n.3252T=
c.3098T= (p.Leu1033=)
c.3272T= (p.Leu1091=)
7g.41965798A>CCA367318764GLI3c.3275T>G (p.Leu1092Arg)
c.3101T>G (p.Leu1034Arg)
n.3252T>G
c.3098T>G (p.Leu1033Arg)
c.3272T>G (p.Leu1091Arg)
7g.41965798A>GCA367318765GLI3c.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
7g.41965798A>TCA367318766GLI3c.3275T>A (p.Leu1092Gln)
c.3101T>A (p.Leu1034Gln)
n.3252T>A
c.3098T>A (p.Leu1033Gln)
c.3272T>A (p.Leu1091Gln)
7g.41965799G>ACA454662538GLI3c.3274C>T (p.Leu1092=)
c.3100C>T (p.Leu1034=)
n.3251C>T
c.3097C>T (p.Leu1033=)
c.3271C>T (p.Leu1091=)
 gnomAD v4
7g.41965799G>CCA367318768GLI3c.3274C>G (p.Leu1092Val)
c.3100C>G (p.Leu1034Val)
n.3251C>G
c.3097C>G (p.Leu1033Val)
c.3271C>G (p.Leu1091Val)
7g.41965799G>TCA367318769GLI3c.3274C>A (p.Leu1092Met)
c.3100C>A (p.Leu1034Met)
n.3251C>A
c.3097C>A (p.Leu1033Met)
c.3271C>A (p.Leu1091Met)
7g.41965800G>ACA454662539GLI3c.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
7g.41965800G>CCA367318772GLI3c.3273C>G (p.Phe1091Leu)
c.3099C>G (p.Phe1033Leu)
n.3250C>G
c.3096C>G (p.Phe1032Leu)
c.3270C>G (p.Phe1090Leu)
7g.41965800G=CA1702660945GLI3c.3273C= (p.Phe1091=)
c.3099C= (p.Phe1033=)
n.3250C=
c.3096C= (p.Phe1032=)
c.3270C= (p.Phe1090=)
7g.41965800G>TCA367318774GLI3c.3273C>A (p.Phe1091Leu)
c.3099C>A (p.Phe1033Leu)
n.3250C>A
c.3096C>A (p.Phe1032Leu)
c.3270C>A (p.Phe1090Leu)
7g.41965801A>CCA367318777GLI3c.3272T>G (p.Phe1091Cys)
c.3098T>G (p.Phe1033Cys)
n.3249T>G
c.3095T>G (p.Phe1032Cys)
c.3269T>G (p.Phe1090Cys)
7g.41965801A>GCA367318779GLI3c.3272T>C (p.Phe1091Ser)
c.3098T>C (p.Phe1033Ser)
n.3249T>C
c.3095T>C (p.Phe1032Ser)
c.3269T>C (p.Phe1090Ser)
7g.41965801A>TCA367318782GLI3c.3272T>A (p.Phe1091Tyr)
c.3098T>A (p.Phe1033Tyr)
n.3249T>A
c.3095T>A (p.Phe1032Tyr)
c.3269T>A (p.Phe1090Tyr)
7g.41965802A=CA1702660946GLI3c.3271T= (p.Phe1091=)
c.3097T= (p.Phe1033=)
n.3248T=
c.3094T= (p.Phe1032=)
c.3268T= (p.Phe1090=)
7g.41965802A>CCA367318785GLI3c.3271T>G (p.Phe1091Val)
c.3097T>G (p.Phe1033Val)
n.3248T>G
c.3094T>G (p.Phe1032Val)
c.3268T>G (p.Phe1090Val)
7g.41965802A>GCA4230410GLI3c.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
7g.41965802A>TCA367318789GLI3c.3271T>A (p.Phe1091Ile)
c.3097T>A (p.Phe1033Ile)
n.3248T>A
c.3094T>A (p.Phe1032Ile)
c.3268T>A (p.Phe1090Ile)
7g.41965803A>CCA367318790GLI3c.3270T>G (p.Asp1090Glu)
c.3096T>G (p.Asp1032Glu)
n.3247T>G
c.3093T>G (p.Asp1031Glu)
c.3267T>G (p.Asp1089Glu)
7g.41965803A>GCA454662547GLI3c.3270T>C (p.Asp1090=)
c.3096T>C (p.Asp1032=)
n.3247T>C
c.3093T>C (p.Asp1031=)
c.3267T>C (p.Asp1089=)
7g.41965803A>TCA367318793GLI3c.3270T>A (p.Asp1090Glu)
c.3096T>A (p.Asp1032Glu)
n.3247T>A
c.3093T>A (p.Asp1031Glu)
c.3267T>A (p.Asp1089Glu)
7g.41965804T>ACA367318796GLI3c.3269A>T (p.Asp1090Val)
c.3095A>T (p.Asp1032Val)
n.3246A>T
c.3092A>T (p.Asp1031Val)
c.3266A>T (p.Asp1089Val)
7g.41965804T>CCA156904389GLI3c.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
7g.41965804T>GCA367318799GLI3c.3269A>C (p.Asp1090Ala)
c.3095A>C (p.Asp1032Ala)
n.3246A>C
c.3092A>C (p.Asp1031Ala)
c.3266A>C (p.Asp1089Ala)
7g.41965804T=CA1702660947GLI3c.3269A= (p.Asp1090=)
c.3095A= (p.Asp1032=)
n.3246A=
c.3092A= (p.Asp1031=)
c.3266A= (p.Asp1089=)
7g.41965805C>ACA367318802GLI3c.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
7g.41965805C=CA1702660948GLI3c.3268G= (p.Asp1090=)
c.3094G= (p.Asp1032=)
n.3245G=
c.3091G= (p.Asp1031=)
c.3265G= (p.Asp1089=)
7g.41965805C>GCA367318807GLI3c.3268G>C (p.Asp1090His)
c.3094G>C (p.Asp1032His)
n.3245G>C
c.3091G>C (p.Asp1031His)
c.3265G>C (p.Asp1089His)
7g.41965805C>TCA367318804GLI3c.3268G>A (p.Asp1090Asn)
c.3094G>A (p.Asp1032Asn)
n.3245G>A
c.3091G>A (p.Asp1031Asn)
c.3265G>A (p.Asp1089Asn)
7g.41965806C>ACA367318808GLI3c.3267G>T (p.Glu1089Asp)
c.3093G>T (p.Glu1031Asp)
n.3244G>T
c.3090G>T (p.Glu1030Asp)
c.3264G>T (p.Glu1088Asp)
7g.41965806C>GCA367318809GLI3c.3267G>C (p.Glu1089Asp)
c.3093G>C (p.Glu1031Asp)
n.3244G>C
c.3090G>C (p.Glu1030Asp)
c.3264G>C (p.Glu1088Asp)
7g.41965806C>TCA454662554GLI3c.3267G>A (p.Glu1089=)
c.3093G>A (p.Glu1031=)
n.3244G>A
c.3090G>A (p.Glu1030=)
c.3264G>A (p.Glu1088=)
7g.41965807T>ACA367318810GLI3c.3266A>T (p.Glu1089Val)
c.3092A>T (p.Glu1031Val)
n.3243A>T
c.3089A>T (p.Glu1030Val)
c.3263A>T (p.Glu1088Val)
 dbSNP
7g.41965807T>CCA367318811GLI3c.3266A>G (p.Glu1089Gly)
c.3092A>G (p.Glu1031Gly)
n.3243A>G
c.3089A>G (p.Glu1030Gly)
c.3263A>G (p.Glu1088Gly)
7g.41965807T>GCA367318812GLI3c.3266A>C (p.Glu1089Ala)
c.3092A>C (p.Glu1031Ala)
n.3243A>C
c.3089A>C (p.Glu1030Ala)
c.3263A>C (p.Glu1088Ala)
7g.41965807T=CA1702660949GLI3c.3266A= (p.Glu1089=)
c.3092A= (p.Glu1031=)
n.3243A=
c.3089A= (p.Glu1030=)
c.3263A= (p.Glu1088=)
7g.41965808C>ACA367318813GLI3c.3265G>T (p.Glu1089Ter)
c.3091G>T (p.Glu1031Ter)
n.3242G>T
c.3088G>T (p.Glu1030Ter)
c.3262G>T (p.Glu1088Ter)
7g.41965808C>GCA367318814GLI3c.3265G>C (p.Glu1089Gln)
c.3091G>C (p.Glu1031Gln)
n.3242G>C
c.3088G>C (p.Glu1030Gln)
c.3262G>C (p.Glu1088Gln)
7g.41965808C>TCA367318815GLI3c.3265G>A (p.Glu1089Lys)
c.3091G>A (p.Glu1031Lys)
n.3242G>A
c.3088G>A (p.Glu1030Lys)
c.3262G>A (p.Glu1088Lys)
7g.41965809A>CCA367318816GLI3c.3264T>G (p.Asp1088Glu)
c.3090T>G (p.Asp1030Glu)
n.3241T>G
c.3087T>G (p.Asp1029Glu)
c.3261T>G (p.Asp1087Glu)
7g.41965809A>GCA454661742GLI3c.3264T>C (p.Asp1088=)
c.3090T>C (p.Asp1030=)
n.3241T>C
c.3087T>C (p.Asp1029=)
c.3261T>C (p.Asp1087=)
7g.41965809A>TCA367318817GLI3c.3264T>A (p.Asp1088Glu)
c.3090T>A (p.Asp1030Glu)
n.3241T>A
c.3087T>A (p.Asp1029Glu)
c.3261T>A (p.Asp1087Glu)
7g.41965810T>ACA367318820GLI3c.3263A>T (p.Asp1088Val)
c.3089A>T (p.Asp1030Val)
n.3240A>T
c.3086A>T (p.Asp1029Val)
c.3260A>T (p.Asp1087Val)
 gnomAD v4
7g.41965810T>CCA367318819GLI3c.3263A>G (p.Asp1088Gly)
c.3089A>G (p.Asp1030Gly)
n.3240A>G
c.3086A>G (p.Asp1029Gly)
c.3260A>G (p.Asp1087Gly)
7g.41965810T>GCA367318818GLI3c.3263A>C (p.Asp1088Ala)
c.3089A>C (p.Asp1030Ala)
n.3240A>C
c.3086A>C (p.Asp1029Ala)
c.3260A>C (p.Asp1087Ala)
7g.41965811C>ACA367318821GLI3c.3262G>T (p.Asp1088Tyr)
c.3088G>T (p.Asp1030Tyr)
n.3239G>T
c.3085G>T (p.Asp1029Tyr)
c.3259G>T (p.Asp1087Tyr)
 gnomAD v4
7g.41965811C=CA1702660950GLI3c.3262G= (p.Asp1088=)
c.3088G= (p.Asp1030=)
n.3239G=
c.3085G= (p.Asp1029=)
c.3259G= (p.Asp1087=)
7g.41965811C>GCA367318822GLI3c.3262G>C (p.Asp1088His)
c.3088G>C (p.Asp1030His)
n.3239G>C
c.3085G>C (p.Asp1029His)
c.3259G>C (p.Asp1087His)
 gnomAD v4
7g.41965811C>TCA4230411GLI3c.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
7g.41965812G>ACA4230412GLI3c.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
7g.41965812G>CCA367318823GLI3c.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
7g.41965812G=CA1702660951GLI3c.3261C= (p.Asn1087=)
c.3087C= (p.Asn1029=)
n.3238C=
c.3084C= (p.Asn1028=)
c.3258C= (p.Asn1086=)
7g.41965812G>TCA4230413GLI3c.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
7g.41965813T>ACA367318824GLI3c.3260A>T (p.Asn1087Ile)
c.3086A>T (p.Asn1029Ile)
n.3237A>T
c.3083A>T (p.Asn1028Ile)
c.3257A>T (p.Asn1086Ile)
7g.41965813T>CCA367318825GLI3c.3260A>G (p.Asn1087Ser)
c.3086A>G (p.Asn1029Ser)
n.3237A>G
c.3083A>G (p.Asn1028Ser)
c.3257A>G (p.Asn1086Ser)
7g.41965813T>GCA367318826GLI3c.3260A>C (p.Asn1087Thr)
c.3086A>C (p.Asn1029Thr)
n.3237A>C
c.3083A>C (p.Asn1028Thr)
c.3257A>C (p.Asn1086Thr)
7g.41965814T>ACA367318827GLI3c.3259A>T (p.Asn1087Tyr)
c.3085A>T (p.Asn1029Tyr)
n.3236A>T
c.3082A>T (p.Asn1028Tyr)
c.3256A>T (p.Asn1086Tyr)
7g.41965814T>CCA367318828GLI3c.3259A>G (p.Asn1087Asp)
c.3085A>G (p.Asn1029Asp)
n.3236A>G
c.3082A>G (p.Asn1028Asp)
c.3256A>G (p.Asn1086Asp)
7g.41965814T>GCA367318829GLI3c.3259A>C (p.Asn1087His)
c.3085A>C (p.Asn1029His)
n.3236A>C
c.3082A>C (p.Asn1028His)
c.3256A>C (p.Asn1086His)
7g.41965815C>ACA454661743GLI3c.3258G>T (p.Leu1086=)
c.3084G>T (p.Leu1028=)
n.3235G>T
c.3081G>T (p.Leu1027=)
c.3255G>T (p.Leu1085=)
7g.41965815C>GCA454661744GLI3c.3258G>C (p.Leu1086=)
c.3084G>C (p.Leu1028=)
n.3235G>C
c.3081G>C (p.Leu1027=)
c.3255G>C (p.Leu1085=)
7g.41965815C>TCA454661745GLI3c.3258G>A (p.Leu1086=)
c.3084G>A (p.Leu1028=)
n.3235G>A
c.3081G>A (p.Leu1027=)
c.3255G>A (p.Leu1085=)
7g.41965816A>CCA367318830GLI3c.3257T>G (p.Leu1086Arg)
c.3083T>G (p.Leu1028Arg)
n.3234T>G
c.3080T>G (p.Leu1027Arg)
c.3254T>G (p.Leu1085Arg)
7g.41965816A>GCA367318831GLI3c.3257T>C (p.Leu1086Pro)
c.3083T>C (p.Leu1028Pro)
n.3234T>C
c.3080T>C (p.Leu1027Pro)
c.3254T>C (p.Leu1085Pro)
7g.41965816A>TCA367318832GLI3c.3257T>A (p.Leu1086Gln)
c.3083T>A (p.Leu1028Gln)
n.3234T>A
c.3080T>A (p.Leu1027Gln)
c.3254T>A (p.Leu1085Gln)
7g.41965817G>ACA454661746GLI3c.3256C>T (p.Leu1086=)
c.3082C>T (p.Leu1028=)
n.3233C>T
c.3079C>T (p.Leu1027=)
c.3253C>T (p.Leu1085=)
7g.41965817G>CCA367318834GLI3c.3256C>G (p.Leu1086Val)
c.3082C>G (p.Leu1028Val)
n.3233C>G
c.3079C>G (p.Leu1027Val)
c.3253C>G (p.Leu1085Val)
7g.41965817G=CA1702660952GLI3c.3256C= (p.Leu1086=)
c.3082C= (p.Leu1028=)
n.3233C=
c.3079C= (p.Leu1027=)
c.3253C= (p.Leu1085=)
7g.41965817G>TCA367318833GLI3c.3256C>A (p.Leu1086Met)
c.3082C>A (p.Leu1028Met)
n.3233C>A
c.3079C>A (p.Leu1027Met)
c.3253C>A (p.Leu1085Met)
 dbSNP
7g.41965818G>ACA454661747GLI3c.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
7g.41965818G>CCA367318835GLI3c.3255C>G (p.Asn1085Lys)
c.3081C>G (p.Asn1027Lys)
n.3232C>G
c.3078C>G (p.Asn1026Lys)
c.3252C>G (p.Asn1084Lys)
7g.41965818G=CA1702660953GLI3c.3255C= (p.Asn1085=)
c.3081C= (p.Asn1027=)
n.3232C=
c.3078C= (p.Asn1026=)
c.3252C= (p.Asn1084=)
7g.41965818G>TCA367318836GLI3c.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
7g.41965819T>ACA367318837GLI3c.3254A>T (p.Asn1085Ile)
c.3080A>T (p.Asn1027Ile)
n.3231A>T
c.3077A>T (p.Asn1026Ile)
c.3251A>T (p.Asn1084Ile)
 COSMIC
7g.41965819T>CCA4230414GLI3c.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
7g.41965819T>GCA367318838GLI3c.3254A>C (p.Asn1085Thr)
c.3080A>C (p.Asn1027Thr)
n.3231A>C
c.3077A>C (p.Asn1026Thr)
c.3251A>C (p.Asn1084Thr)
7g.41965819T=CA1702660954GLI3c.3254A= (p.Asn1085=)
c.3080A= (p.Asn1027=)
n.3231A=
c.3077A= (p.Asn1026=)
c.3251A= (p.Asn1084=)
7g.41965820T>ACA367318839GLI3c.3253A>T (p.Asn1085Tyr)
c.3079A>T (p.Asn1027Tyr)
n.3230A>T
c.3076A>T (p.Asn1026Tyr)
c.3250A>T (p.Asn1084Tyr)
7g.41965820T>CCA367318840GLI3c.3253A>G (p.Asn1085Asp)
c.3079A>G (p.Asn1027Asp)
n.3230A>G
c.3076A>G (p.Asn1026Asp)
c.3250A>G (p.Asn1084Asp)
7g.41965820T>GCA367318841GLI3c.3253A>C (p.Asn1085His)
c.3079A>C (p.Asn1027His)
n.3230A>C
c.3076A>C (p.Asn1026His)
c.3250A>C (p.Asn1084His)
7g.41965821G>ACA454661748GLI3c.3252C>T (p.Ala1084=)
c.3078C>T (p.Ala1026=)
n.3229C>T
c.3075C>T (p.Ala1025=)
c.3249C>T (p.Ala1083=)
 dbSNP
7g.41965821G>CCA454661749GLI3c.3252C>G (p.Ala1084=)
c.3078C>G (p.Ala1026=)
n.3229C>G
c.3075C>G (p.Ala1025=)
c.3249C>G (p.Ala1083=)
7g.41965821G=CA1702660955GLI3c.3252C= (p.Ala1084=)
c.3078C= (p.Ala1026=)
n.3229C=
c.3075C= (p.Ala1025=)
c.3249C= (p.Ala1083=)
7g.41965821G>TCA454661750GLI3c.3252C>A (p.Ala1084=)
c.3078C>A (p.Ala1026=)
n.3229C>A
c.3075C>A (p.Ala1025=)
c.3249C>A (p.Ala1083=)
7g.41965821_41965822delCA2569305153GLI3c.3251_3252del (p.Ala1084GlufsTer5)
c.3077_3078del (p.Ala1026GlufsTer5)
n.3228_3229del
c.3074_3075del (p.Ala1025GlufsTer5)
c.3248_3249del (p.Ala1083GlufsTer5)
7g.41965822G>ACA4230415GLI3c.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
7g.41965822G>CCA367318842GLI3c.3251C>G (p.Ala1084Gly)
c.3077C>G (p.Ala1026Gly)
n.3228C>G
c.3074C>G (p.Ala1025Gly)
c.3248C>G (p.Ala1083Gly)
7g.41965822G=CA1702660956GLI3c.3251C= (p.Ala1084=)
c.3077C= (p.Ala1026=)
n.3228C=
c.3074C= (p.Ala1025=)
c.3248C= (p.Ala1083=)
7g.41965822G>TCA367318843GLI3c.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
7g.41965823C>ACA367318846GLI3c.3250G>T (p.Ala1084Ser)
c.3076G>T (p.Ala1026Ser)
n.3227G>T
c.3073G>T (p.Ala1025Ser)
c.3247G>T (p.Ala1083Ser)
7g.41965823C>GCA367318845GLI3c.3250G>C (p.Ala1084Pro)
c.3076G>C (p.Ala1026Pro)
n.3227G>C
c.3073G>C (p.Ala1025Pro)
c.3247G>C (p.Ala1083Pro)
7g.41965823C>TCA367318844GLI3c.3250G>A (p.Ala1084Thr)
c.3076G>A (p.Ala1026Thr)
n.3227G>A
c.3073G>A (p.Ala1025Thr)
c.3247G>A (p.Ala1083Thr)
 gnomAD v4
7g.41965824A>CCA367318847GLI3c.3249T>G (p.Asp1083Glu)
c.3075T>G (p.Asp1025Glu)
n.3226T>G
c.3072T>G (p.Asp1024Glu)
c.3246T>G (p.Asp1082Glu)
7g.41965824A>GCA454661751GLI3c.3249T>C (p.Asp1083=)
c.3075T>C (p.Asp1025=)
n.3226T>C
c.3072T>C (p.Asp1024=)
c.3246T>C (p.Asp1082=)
7g.41965824A>TCA367318848GLI3c.3249T>A (p.Asp1083Glu)
c.3075T>A (p.Asp1025Glu)
n.3226T>A
c.3072T>A (p.Asp1024Glu)
c.3246T>A (p.Asp1082Glu)
7g.41965824_41965825insCGCA2521572352GLI3c.3248_3249insCG (p.Ala1084ValfsTer4)
c.3074_3075insCG (p.Ala1026ValfsTer4)
n.3225_3226insCG
c.3071_3072insCG (p.Ala1025ValfsTer4)
c.3245_3246insCG (p.Ala1083ValfsTer4)
7g.41965825T>ACA367318849GLI3c.3248A>T (p.Asp1083Val)
c.3074A>T (p.Asp1025Val)
n.3225A>T
c.3071A>T (p.Asp1024Val)
c.3245A>T (p.Asp1082Val)
7g.41965825T>CCA367318850GLI3c.3248A>G (p.Asp1083Gly)
c.3074A>G (p.Asp1025Gly)
n.3225A>G
c.3071A>G (p.Asp1024Gly)
c.3245A>G (p.Asp1082Gly)
7g.41965825T>GCA367318851GLI3c.3248A>C (p.Asp1083Ala)
c.3074A>C (p.Asp1025Ala)
n.3225A>C
c.3071A>C (p.Asp1024Ala)
c.3245A>C (p.Asp1082Ala)
7g.41965826C>ACA367318852GLI3c.3247G>T (p.Asp1083Tyr)
c.3073G>T (p.Asp1025Tyr)
n.3224G>T
c.3070G>T (p.Asp1024Tyr)
c.3244G>T (p.Asp1082Tyr)
7g.41965826C>GCA367318853GLI3c.3247G>C (p.Asp1083His)
c.3073G>C (p.Asp1025His)
n.3224G>C
c.3070G>C (p.Asp1024His)
c.3244G>C (p.Asp1082His)
7g.41965826C>TCA367318854GLI3c.3247G>A (p.Asp1083Asn)
c.3073G>A (p.Asp1025Asn)
n.3224G>A
c.3070G>A (p.Asp1024Asn)
c.3244G>A (p.Asp1082Asn)
7g.41965827A=CA1702660957GLI3c.3246T= (p.Ala1082=)
c.3072T= (p.Ala1024=)
n.3223T=
c.3069T= (p.Ala1023=)
c.3243T= (p.Ala1081=)
7g.41965827A>CCA454661754GLI3c.3246T>G (p.Ala1082=)
c.3072T>G (p.Ala1024=)
n.3223T>G
c.3069T>G (p.Ala1023=)
c.3243T>G (p.Ala1081=)
7g.41965827A>GCA454661753GLI3c.3246T>C (p.Ala1082=)
c.3072T>C (p.Ala1024=)
n.3223T>C
c.3069T>C (p.Ala1023=)
c.3243T>C (p.Ala1081=)
7g.41965827A>TCA454661752GLI3c.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
7g.41965828G>ACA367318855GLI3c.3245C>T (p.Ala1082Val)
c.3071C>T (p.Ala1024Val)
n.3222C>T
c.3068C>T (p.Ala1023Val)
c.3242C>T (p.Ala1081Val)
 gnomAD v4
7g.41965828G>CCA367318856GLI3c.3245C>G (p.Ala1082Gly)
c.3071C>G (p.Ala1024Gly)
n.3222C>G
c.3068C>G (p.Ala1023Gly)
c.3242C>G (p.Ala1081Gly)
7g.41965828G>TCA367318857GLI3c.3245C>A (p.Ala1082Asp)
c.3071C>A (p.Ala1024Asp)
n.3222C>A
c.3068C>A (p.Ala1023Asp)
c.3242C>A (p.Ala1081Asp)
7g.41965829C>ACA367318858GLI3c.3244G>T (p.Ala1082Ser)
c.3070G>T (p.Ala1024Ser)
n.3221G>T
c.3067G>T (p.Ala1023Ser)
c.3241G>T (p.Ala1081Ser)
7g.41965829C=CA1702660958GLI3c.3244G= (p.Ala1082=)
c.3070G= (p.Ala1024=)
n.3221G=
c.3067G= (p.Ala1023=)
c.3241G= (p.Ala1081=)
7g.41965829C>GCA367318859GLI3c.3244G>C (p.Ala1082Pro)
c.3070G>C (p.Ala1024Pro)
n.3221G>C
c.3067G>C (p.Ala1023Pro)
c.3241G>C (p.Ala1081Pro)
7g.41965829C>TCA4230416GLI3c.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
7g.41965830G>ACA454661755GLI3c.3243C>T (p.Asp1081=)
c.3069C>T (p.Asp1023=)
n.3220C>T
c.3066C>T (p.Asp1022=)
c.3240C>T (p.Asp1080=)
 dbSNP
7g.41965830G>CCA367318860GLI3c.3243C>G (p.Asp1081Glu)
c.3069C>G (p.Asp1023Glu)
n.3220C>G
c.3066C>G (p.Asp1022Glu)
c.3240C>G (p.Asp1080Glu)
 ClinVar
7g.41965830G=CA1702660959GLI3c.3243C= (p.Asp1081=)
c.3069C= (p.Asp1023=)
n.3220C=
c.3066C= (p.Asp1022=)
c.3240C= (p.Asp1080=)
7g.41965830G>TCA367318861GLI3c.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
7g.41965831T>ACA367318862GLI3c.3242A>T (p.Asp1081Val)
c.3068A>T (p.Asp1023Val)
n.3219A>T
c.3065A>T (p.Asp1022Val)
c.3239A>T (p.Asp1080Val)
7g.41965831T>CCA367318863GLI3c.3242A>G (p.Asp1081Gly)
c.3068A>G (p.Asp1023Gly)
n.3219A>G
c.3065A>G (p.Asp1022Gly)
c.3239A>G (p.Asp1080Gly)
7g.41965831T>GCA367318864GLI3c.3242A>C (p.Asp1081Ala)
c.3068A>C (p.Asp1023Ala)
n.3219A>C
c.3065A>C (p.Asp1022Ala)
c.3239A>C (p.Asp1080Ala)
 gnomAD v4
7g.41965832C>ACA367318865GLI3c.3241G>T (p.Asp1081Tyr)
c.3067G>T (p.Asp1023Tyr)
n.3218G>T
c.3064G>T (p.Asp1022Tyr)
c.3238G>T (p.Asp1080Tyr)
7g.41965832C>GCA367318866GLI3c.3241G>C (p.Asp1081His)
c.3067G>C (p.Asp1023His)
n.3218G>C
c.3064G>C (p.Asp1022His)
c.3238G>C (p.Asp1080His)
7g.41965832C>TCA367318867GLI3c.3241G>A (p.Asp1081Asn)
c.3067G>A (p.Asp1023Asn)
n.3218G>A
c.3064G>A (p.Asp1022Asn)
c.3238G>A (p.Asp1080Asn)
7g.41965833C>ACA367318868GLI3c.3240G>T (p.Met1080Ile)
c.3066G>T (p.Met1022Ile)
n.3217G>T
c.3063G>T (p.Met1021Ile)
c.3237G>T (p.Met1079Ile)
7g.41965833C>GCA367318869GLI3c.3240G>C (p.Met1080Ile)
c.3066G>C (p.Met1022Ile)
n.3217G>C
c.3063G>C (p.Met1021Ile)
c.3237G>C (p.Met1079Ile)
7g.41965833C>TCA367318870GLI3c.3240G>A (p.Met1080Ile)
c.3066G>A (p.Met1022Ile)
n.3217G>A
c.3063G>A (p.Met1021Ile)
c.3237G>A (p.Met1079Ile)
7g.41965834A=CA1702660960GLI3c.3239T= (p.Met1080=)
c.3065T= (p.Met1022=)
n.3216T=
c.3062T= (p.Met1021=)
c.3236T= (p.Met1079=)
7g.41965834A>CCA367318871GLI3c.3239T>G (p.Met1080Arg)
c.3065T>G (p.Met1022Arg)
n.3216T>G
c.3062T>G (p.Met1021Arg)
c.3236T>G (p.Met1079Arg)
 gnomAD v4
7g.41965834A>GCA367318872GLI3c.3239T>C (p.Met1080Thr)
c.3065T>C (p.Met1022Thr)
n.3216T>C
c.3062T>C (p.Met1021Thr)
c.3236T>C (p.Met1079Thr)
 dbSNP
7g.41965834A>TCA367318873GLI3c.3239T>A (p.Met1080Lys)
c.3065T>A (p.Met1022Lys)
n.3216T>A
c.3062T>A (p.Met1021Lys)
c.3236T>A (p.Met1079Lys)
7g.41965835T>ACA367318875GLI3c.3238A>T (p.Met1080Leu)
c.3064A>T (p.Met1022Leu)
n.3215A>T
c.3061A>T (p.Met1021Leu)
c.3235A>T (p.Met1079Leu)
7g.41965835T>CCA367318876GLI3c.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
7g.41965835T>GCA367318874GLI3c.3238A>C (p.Met1080Leu)
c.3064A>C (p.Met1022Leu)
n.3215A>C
c.3061A>C (p.Met1021Leu)
c.3235A>C (p.Met1079Leu)
7g.41965835T=CA1702660961GLI3c.3238A= (p.Met1080=)
c.3064A= (p.Met1022=)
n.3215A=
c.3061A= (p.Met1021=)
c.3235A= (p.Met1079=)
7g.41965836G>ACA454661756GLI3c.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
7g.41965836G>CCA454661757GLI3c.3237C>G (p.Thr1079=)
c.3063C>G (p.Thr1021=)
n.3214C>G
c.3060C>G (p.Thr1020=)
c.3234C>G (p.Thr1078=)
 gnomAD v4
7g.41965836G=CA1702660962GLI3c.3237C= (p.Thr1079=)
c.3063C= (p.Thr1021=)
n.3214C=
c.3060C= (p.Thr1020=)
c.3234C= (p.Thr1078=)
7g.41965836G>TCA454661758GLI3c.3237C>A (p.Thr1079=)
c.3063C>A (p.Thr1021=)
n.3214C>A
c.3060C>A (p.Thr1020=)
c.3234C>A (p.Thr1078=)

Number of alleles fetched