Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.120989182A>CCA348173126GLI2c.3217A>C (p.Ser1073Arg)
c.3268A>C (p.Ser1090Arg)
c.*2316A>C (n.*2316A>C)
c.*2367A>C (n.*2367A>C)
c.3250A>C (p.Ser1084Arg)
c.3127A>C (p.Ser1043Arg)
c.3073A>C (p.Ser1025Arg)
c.2893A>C (p.Ser965Arg)
c.2842A>C (p.Ser948Arg)
c.3520A>C (p.Ser1174Arg)
c.3169A>C (p.Ser1057Arg)
c.3469A>C (p.Ser1157Arg)
 ClinVar
2g.120989182A>GCA348173133GLI2c.3217A>G (p.Ser1073Gly)
c.3268A>G (p.Ser1090Gly)
c.*2316A>G (n.*2316A>G)
c.*2367A>G (n.*2367A>G)
c.3250A>G (p.Ser1084Gly)
c.3127A>G (p.Ser1043Gly)
c.3073A>G (p.Ser1025Gly)
c.2893A>G (p.Ser965Gly)
c.2842A>G (p.Ser948Gly)
c.3520A>G (p.Ser1174Gly)
c.3169A>G (p.Ser1057Gly)
c.3469A>G (p.Ser1157Gly)
2g.120989182A>TCA348173130GLI2c.3217A>T (p.Ser1073Cys)
c.3268A>T (p.Ser1090Cys)
c.*2316A>T (n.*2316A>T)
c.*2367A>T (n.*2367A>T)
c.3250A>T (p.Ser1084Cys)
c.3127A>T (p.Ser1043Cys)
c.3073A>T (p.Ser1025Cys)
c.2893A>T (p.Ser965Cys)
c.2842A>T (p.Ser948Cys)
c.3520A>T (p.Ser1174Cys)
c.3169A>T (p.Ser1057Cys)
c.3469A>T (p.Ser1157Cys)
2g.120989183G>ACA348173138GLI2c.3218G>A (p.Ser1073Asn)
c.3269G>A (p.Ser1090Asn)
c.*2317G>A (n.*2317G>A)
c.*2368G>A (n.*2368G>A)
c.3251G>A (p.Ser1084Asn)
c.3128G>A (p.Ser1043Asn)
c.3074G>A (p.Ser1025Asn)
c.2894G>A (p.Ser965Asn)
c.2843G>A (p.Ser948Asn)
c.3521G>A (p.Ser1174Asn)
c.3170G>A (p.Ser1057Asn)
c.3470G>A (p.Ser1157Asn)
2g.120989183G>CCA348173145GLI2c.3218G>C (p.Ser1073Thr)
c.3269G>C (p.Ser1090Thr)
c.*2317G>C (n.*2317G>C)
c.*2368G>C (n.*2368G>C)
c.3251G>C (p.Ser1084Thr)
c.3128G>C (p.Ser1043Thr)
c.3074G>C (p.Ser1025Thr)
c.2894G>C (p.Ser965Thr)
c.2843G>C (p.Ser948Thr)
c.3521G>C (p.Ser1174Thr)
c.3170G>C (p.Ser1057Thr)
c.3470G>C (p.Ser1157Thr)
2g.120989183G>TCA348173149GLI2c.3218G>T (p.Ser1073Ile)
c.3269G>T (p.Ser1090Ile)
c.*2317G>T (n.*2317G>T)
c.*2368G>T (n.*2368G>T)
c.3251G>T (p.Ser1084Ile)
c.3128G>T (p.Ser1043Ile)
c.3074G>T (p.Ser1025Ile)
c.2894G>T (p.Ser965Ile)
c.2843G>T (p.Ser948Ile)
c.3521G>T (p.Ser1174Ile)
c.3170G>T (p.Ser1057Ile)
c.3470G>T (p.Ser1157Ile)
 gnomAD v4
2g.120989184C>ACA348173156GLI2c.3219C>A (p.Ser1073Arg)
c.3270C>A (p.Ser1090Arg)
c.*2318C>A (n.*2318C>A)
c.*2369C>A (n.*2369C>A)
c.3252C>A (p.Ser1084Arg)
c.3129C>A (p.Ser1043Arg)
c.3075C>A (p.Ser1025Arg)
c.2895C>A (p.Ser965Arg)
c.2844C>A (p.Ser948Arg)
c.3522C>A (p.Ser1174Arg)
c.3171C>A (p.Ser1057Arg)
c.3471C>A (p.Ser1157Arg)
2g.120989184C=CA1283795511GLI2c.3219C= (p.Ser1073=)
c.3270C= (p.Ser1090=)
c.*2318C= (n.*2318C=)
c.*2369C= (n.*2369C=)
c.3252C= (p.Ser1084=)
c.3129C= (p.Ser1043=)
c.3075C= (p.Ser1025=)
c.2895C= (p.Ser965=)
c.2844C= (p.Ser948=)
c.3522C= (p.Ser1174=)
c.3171C= (p.Ser1057=)
c.3471C= (p.Ser1157=)
2g.120989184C>GCA348173160GLI2c.3219C>G (p.Ser1073Arg)
c.3270C>G (p.Ser1090Arg)
c.*2318C>G (n.*2318C>G)
c.*2369C>G (n.*2369C>G)
c.3252C>G (p.Ser1084Arg)
c.3129C>G (p.Ser1043Arg)
c.3075C>G (p.Ser1025Arg)
c.2895C>G (p.Ser965Arg)
c.2844C>G (p.Ser948Arg)
c.3522C>G (p.Ser1174Arg)
c.3171C>G (p.Ser1057Arg)
c.3471C>G (p.Ser1157Arg)
2g.120989184C>TCA1852349GLI2c.3219C>T (p.Ser1073=)
c.3270C>T (p.Ser1090=)
c.*2318C>T (n.*2318C>T)
c.*2369C>T (n.*2369C>T)
c.3252C>T (p.Ser1084=)
c.3129C>T (p.Ser1043=)
c.3075C>T (p.Ser1025=)
c.2895C>T (p.Ser965=)
c.2844C>T (p.Ser948=)
c.3522C>T (p.Ser1174=)
c.3171C>T (p.Ser1057=)
c.3471C>T (p.Ser1157=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989185A=CA1283795512GLI2c.3220A= (p.Thr1074=)
c.3271A= (p.Thr1091=)
c.*2319A= (n.*2319A=)
c.*2370A= (n.*2370A=)
c.3253A= (p.Thr1085=)
c.3130A= (p.Thr1044=)
c.3076A= (p.Thr1026=)
c.2896A= (p.Thr966=)
c.2845A= (p.Thr949=)
c.3523A= (p.Thr1175=)
c.3172A= (p.Thr1058=)
c.3472A= (p.Thr1158=)
2g.120989185A>CCA348173161GLI2c.3220A>C (p.Thr1074Pro)
c.3271A>C (p.Thr1091Pro)
c.*2319A>C (n.*2319A>C)
c.*2370A>C (n.*2370A>C)
c.3253A>C (p.Thr1085Pro)
c.3130A>C (p.Thr1044Pro)
c.3076A>C (p.Thr1026Pro)
c.2896A>C (p.Thr966Pro)
c.2845A>C (p.Thr949Pro)
c.3523A>C (p.Thr1175Pro)
c.3172A>C (p.Thr1058Pro)
c.3472A>C (p.Thr1158Pro)
2g.120989185A>GCA348173162GLI2c.3220A>G (p.Thr1074Ala)
c.3271A>G (p.Thr1091Ala)
c.*2319A>G (n.*2319A>G)
c.*2370A>G (n.*2370A>G)
c.3253A>G (p.Thr1085Ala)
c.3130A>G (p.Thr1044Ala)
c.3076A>G (p.Thr1026Ala)
c.2896A>G (p.Thr966Ala)
c.2845A>G (p.Thr949Ala)
c.3523A>G (p.Thr1175Ala)
c.3172A>G (p.Thr1058Ala)
c.3472A>G (p.Thr1158Ala)
 dbSNP
2g.120989185A>TCA348173165GLI2c.3220A>T (p.Thr1074Ser)
c.3271A>T (p.Thr1091Ser)
c.*2319A>T (n.*2319A>T)
c.*2370A>T (n.*2370A>T)
c.3253A>T (p.Thr1085Ser)
c.3130A>T (p.Thr1044Ser)
c.3076A>T (p.Thr1026Ser)
c.2896A>T (p.Thr966Ser)
c.2845A>T (p.Thr949Ser)
c.3523A>T (p.Thr1175Ser)
c.3172A>T (p.Thr1058Ser)
c.3472A>T (p.Thr1158Ser)
2g.120989186C>ACA348173167GLI2c.3221C>A (p.Thr1074Asn)
c.3272C>A (p.Thr1091Asn)
c.*2320C>A (n.*2320C>A)
c.*2371C>A (n.*2371C>A)
c.3254C>A (p.Thr1085Asn)
c.3131C>A (p.Thr1044Asn)
c.3077C>A (p.Thr1026Asn)
c.2897C>A (p.Thr966Asn)
c.2846C>A (p.Thr949Asn)
c.3524C>A (p.Thr1175Asn)
c.3173C>A (p.Thr1058Asn)
c.3473C>A (p.Thr1158Asn)
2g.120989186C=CA1283795513GLI2c.3221C= (p.Thr1074=)
c.3272C= (p.Thr1091=)
c.*2320C= (n.*2320C=)
c.*2371C= (n.*2371C=)
c.3254C= (p.Thr1085=)
c.3131C= (p.Thr1044=)
c.3077C= (p.Thr1026=)
c.2897C= (p.Thr966=)
c.2846C= (p.Thr949=)
c.3524C= (p.Thr1175=)
c.3173C= (p.Thr1058=)
c.3473C= (p.Thr1158=)
2g.120989186C>GCA348173173GLI2c.3221C>G (p.Thr1074Ser)
c.3272C>G (p.Thr1091Ser)
c.*2320C>G (n.*2320C>G)
c.*2371C>G (n.*2371C>G)
c.3254C>G (p.Thr1085Ser)
c.3131C>G (p.Thr1044Ser)
c.3077C>G (p.Thr1026Ser)
c.2897C>G (p.Thr966Ser)
c.2846C>G (p.Thr949Ser)
c.3524C>G (p.Thr1175Ser)
c.3173C>G (p.Thr1058Ser)
c.3473C>G (p.Thr1158Ser)
2g.120989186C>TCA1852350GLI2c.3221C>T (p.Thr1074Ile)
c.3272C>T (p.Thr1091Ile)
c.*2320C>T (n.*2320C>T)
c.*2371C>T (n.*2371C>T)
c.3254C>T (p.Thr1085Ile)
c.3131C>T (p.Thr1044Ile)
c.3077C>T (p.Thr1026Ile)
c.2897C>T (p.Thr966Ile)
c.2846C>T (p.Thr949Ile)
c.3524C>T (p.Thr1175Ile)
c.3173C>T (p.Thr1058Ile)
c.3473C>T (p.Thr1158Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989187T>ACA428749806GLI2c.3222T>A (p.Thr1074=)
c.3273T>A (p.Thr1091=)
c.*2321T>A (n.*2321T>A)
c.*2372T>A (n.*2372T>A)
c.3255T>A (p.Thr1085=)
c.3132T>A (p.Thr1044=)
c.3078T>A (p.Thr1026=)
c.2898T>A (p.Thr966=)
c.2847T>A (p.Thr949=)
c.3525T>A (p.Thr1175=)
c.3174T>A (p.Thr1058=)
c.3474T>A (p.Thr1158=)
2g.120989187T>CCA54384069GLI2c.3222T>C (p.Thr1074=)
c.3273T>C (p.Thr1091=)
c.*2321T>C (n.*2321T>C)
c.*2372T>C (n.*2372T>C)
c.3255T>C (p.Thr1085=)
c.3132T>C (p.Thr1044=)
c.3078T>C (p.Thr1026=)
c.2898T>C (p.Thr966=)
c.2847T>C (p.Thr949=)
c.3525T>C (p.Thr1175=)
c.3174T>C (p.Thr1058=)
c.3474T>C (p.Thr1158=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989187T>GCA428749805GLI2c.3222T>G (p.Thr1074=)
c.3273T>G (p.Thr1091=)
c.*2321T>G (n.*2321T>G)
c.*2372T>G (n.*2372T>G)
c.3255T>G (p.Thr1085=)
c.3132T>G (p.Thr1044=)
c.3078T>G (p.Thr1026=)
c.2898T>G (p.Thr966=)
c.2847T>G (p.Thr949=)
c.3525T>G (p.Thr1175=)
c.3174T>G (p.Thr1058=)
c.3474T>G (p.Thr1158=)
2g.120989187T=CA1283795514GLI2c.3222T= (p.Thr1074=)
c.3273T= (p.Thr1091=)
c.*2321T= (n.*2321T=)
c.*2372T= (n.*2372T=)
c.3255T= (p.Thr1085=)
c.3132T= (p.Thr1044=)
c.3078T= (p.Thr1026=)
c.2898T= (p.Thr966=)
c.2847T= (p.Thr949=)
c.3525T= (p.Thr1175=)
c.3174T= (p.Thr1058=)
c.3474T= (p.Thr1158=)
2g.120989188G>ACA348173176GLI2c.3223G>A (p.Gly1075Ser)
c.3274G>A (p.Gly1092Ser)
c.*2322G>A (n.*2322G>A)
c.*2373G>A (n.*2373G>A)
c.3256G>A (p.Gly1086Ser)
c.3133G>A (p.Gly1045Ser)
c.3079G>A (p.Gly1027Ser)
c.2899G>A (p.Gly967Ser)
c.2848G>A (p.Gly950Ser)
c.3526G>A (p.Gly1176Ser)
c.3175G>A (p.Gly1059Ser)
c.3475G>A (p.Gly1159Ser)
2g.120989188G>CCA348173178GLI2c.3223G>C (p.Gly1075Arg)
c.3274G>C (p.Gly1092Arg)
c.*2322G>C (n.*2322G>C)
c.*2373G>C (n.*2373G>C)
c.3256G>C (p.Gly1086Arg)
c.3133G>C (p.Gly1045Arg)
c.3079G>C (p.Gly1027Arg)
c.2899G>C (p.Gly967Arg)
c.2848G>C (p.Gly950Arg)
c.3526G>C (p.Gly1176Arg)
c.3175G>C (p.Gly1059Arg)
c.3475G>C (p.Gly1159Arg)
2g.120989188G>TCA348173180GLI2c.3223G>T (p.Gly1075Cys)
c.3274G>T (p.Gly1092Cys)
c.*2322G>T (n.*2322G>T)
c.*2373G>T (n.*2373G>T)
c.3256G>T (p.Gly1086Cys)
c.3133G>T (p.Gly1045Cys)
c.3079G>T (p.Gly1027Cys)
c.2899G>T (p.Gly967Cys)
c.2848G>T (p.Gly950Cys)
c.3526G>T (p.Gly1176Cys)
c.3175G>T (p.Gly1059Cys)
c.3475G>T (p.Gly1159Cys)
2g.120989189G>ACA1852351GLI2c.3224G>A (p.Gly1075Asp)
c.3275G>A (p.Gly1092Asp)
c.*2323G>A (n.*2323G>A)
c.*2374G>A (n.*2374G>A)
c.3257G>A (p.Gly1086Asp)
c.3134G>A (p.Gly1045Asp)
c.3080G>A (p.Gly1027Asp)
c.2900G>A (p.Gly967Asp)
c.2849G>A (p.Gly950Asp)
c.3527G>A (p.Gly1176Asp)
c.3176G>A (p.Gly1059Asp)
c.3476G>A (p.Gly1159Asp)
 dbSNP ExAC gnomAD v2
2g.120989189G>CCA348173182GLI2c.3224G>C (p.Gly1075Ala)
c.3275G>C (p.Gly1092Ala)
c.*2323G>C (n.*2323G>C)
c.*2374G>C (n.*2374G>C)
c.3257G>C (p.Gly1086Ala)
c.3134G>C (p.Gly1045Ala)
c.3080G>C (p.Gly1027Ala)
c.2900G>C (p.Gly967Ala)
c.2849G>C (p.Gly950Ala)
c.3527G>C (p.Gly1176Ala)
c.3176G>C (p.Gly1059Ala)
c.3476G>C (p.Gly1159Ala)
2g.120989189G=CA1283795515GLI2c.3224G= (p.Gly1075=)
c.3275G= (p.Gly1092=)
c.*2323G= (n.*2323G=)
c.*2374G= (n.*2374G=)
c.3257G= (p.Gly1086=)
c.3134G= (p.Gly1045=)
c.3080G= (p.Gly1027=)
c.2900G= (p.Gly967=)
c.2849G= (p.Gly950=)
c.3527G= (p.Gly1176=)
c.3176G= (p.Gly1059=)
c.3476G= (p.Gly1159=)
2g.120989189G>TCA348173184GLI2c.3224G>T (p.Gly1075Val)
c.3275G>T (p.Gly1092Val)
c.*2323G>T (n.*2323G>T)
c.*2374G>T (n.*2374G>T)
c.3257G>T (p.Gly1086Val)
c.3134G>T (p.Gly1045Val)
c.3080G>T (p.Gly1027Val)
c.2900G>T (p.Gly967Val)
c.2849G>T (p.Gly950Val)
c.3527G>T (p.Gly1176Val)
c.3176G>T (p.Gly1059Val)
c.3476G>T (p.Gly1159Val)
2g.120989190C>ACA428749807GLI2c.3225C>A (p.Gly1075=)
c.3276C>A (p.Gly1092=)
c.*2324C>A (n.*2324C>A)
c.*2375C>A (n.*2375C>A)
c.3258C>A (p.Gly1086=)
c.3135C>A (p.Gly1045=)
c.3081C>A (p.Gly1027=)
c.2901C>A (p.Gly967=)
c.2850C>A (p.Gly950=)
c.3528C>A (p.Gly1176=)
c.3177C>A (p.Gly1059=)
c.3477C>A (p.Gly1159=)
 COSMIC
2g.120989190C=CA1283795516GLI2c.3225C= (p.Gly1075=)
c.3276C= (p.Gly1092=)
c.*2324C= (n.*2324C=)
c.*2375C= (n.*2375C=)
c.3258C= (p.Gly1086=)
c.3135C= (p.Gly1045=)
c.3081C= (p.Gly1027=)
c.2901C= (p.Gly967=)
c.2850C= (p.Gly950=)
c.3528C= (p.Gly1176=)
c.3177C= (p.Gly1059=)
c.3477C= (p.Gly1159=)
2g.120989190C>GCA428749808GLI2c.3225C>G (p.Gly1075=)
c.3276C>G (p.Gly1092=)
c.*2324C>G (n.*2324C>G)
c.*2375C>G (n.*2375C>G)
c.3258C>G (p.Gly1086=)
c.3135C>G (p.Gly1045=)
c.3081C>G (p.Gly1027=)
c.2901C>G (p.Gly967=)
c.2850C>G (p.Gly950=)
c.3528C>G (p.Gly1176=)
c.3177C>G (p.Gly1059=)
c.3477C>G (p.Gly1159=)
2g.120989190C>TCA428749809GLI2c.3225C>T (p.Gly1075=)
c.3276C>T (p.Gly1092=)
c.*2324C>T (n.*2324C>T)
c.*2375C>T (n.*2375C>T)
c.3258C>T (p.Gly1086=)
c.3135C>T (p.Gly1045=)
c.3081C>T (p.Gly1027=)
c.2901C>T (p.Gly967=)
c.2850C>T (p.Gly950=)
c.3528C>T (p.Gly1176=)
c.3177C>T (p.Gly1059=)
c.3477C>T (p.Gly1159=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989191T>ACA348173186GLI2c.3226T>A (p.Phe1076Ile)
c.3277T>A (p.Phe1093Ile)
c.*2325T>A (n.*2325T>A)
c.*2376T>A (n.*2376T>A)
c.3259T>A (p.Phe1087Ile)
c.3136T>A (p.Phe1046Ile)
c.3082T>A (p.Phe1028Ile)
c.2902T>A (p.Phe968Ile)
c.2851T>A (p.Phe951Ile)
c.3529T>A (p.Phe1177Ile)
c.3178T>A (p.Phe1060Ile)
c.3478T>A (p.Phe1160Ile)
2g.120989191T>CCA348173188GLI2c.3226T>C (p.Phe1076Leu)
c.3277T>C (p.Phe1093Leu)
c.*2325T>C (n.*2325T>C)
c.*2376T>C (n.*2376T>C)
c.3259T>C (p.Phe1087Leu)
c.3136T>C (p.Phe1046Leu)
c.3082T>C (p.Phe1028Leu)
c.2902T>C (p.Phe968Leu)
c.2851T>C (p.Phe951Leu)
c.3529T>C (p.Phe1177Leu)
c.3178T>C (p.Phe1060Leu)
c.3478T>C (p.Phe1160Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.120989191T>GCA348173191GLI2c.3226T>G (p.Phe1076Val)
c.3277T>G (p.Phe1093Val)
c.*2325T>G (n.*2325T>G)
c.*2376T>G (n.*2376T>G)
c.3259T>G (p.Phe1087Val)
c.3136T>G (p.Phe1046Val)
c.3082T>G (p.Phe1028Val)
c.2902T>G (p.Phe968Val)
c.2851T>G (p.Phe951Val)
c.3529T>G (p.Phe1177Val)
c.3178T>G (p.Phe1060Val)
c.3478T>G (p.Phe1160Val)
2g.120989191T=CA1283795517GLI2c.3226T= (p.Phe1076=)
c.3277T= (p.Phe1093=)
c.*2325T= (n.*2325T=)
c.*2376T= (n.*2376T=)
c.3259T= (p.Phe1087=)
c.3136T= (p.Phe1046=)
c.3082T= (p.Phe1028=)
c.2902T= (p.Phe968=)
c.2851T= (p.Phe951=)
c.3529T= (p.Phe1177=)
c.3178T= (p.Phe1060=)
c.3478T= (p.Phe1160=)
2g.120989192T>ACA348173194GLI2c.3227T>A (p.Phe1076Tyr)
c.3278T>A (p.Phe1093Tyr)
c.*2326T>A (n.*2326T>A)
c.*2377T>A (n.*2377T>A)
c.3260T>A (p.Phe1087Tyr)
c.3137T>A (p.Phe1046Tyr)
c.3083T>A (p.Phe1028Tyr)
c.2903T>A (p.Phe968Tyr)
c.2852T>A (p.Phe951Tyr)
c.3530T>A (p.Phe1177Tyr)
c.3179T>A (p.Phe1060Tyr)
c.3479T>A (p.Phe1160Tyr)
2g.120989192T>CCA348173200GLI2c.3227T>C (p.Phe1076Ser)
c.3278T>C (p.Phe1093Ser)
c.*2326T>C (n.*2326T>C)
c.*2377T>C (n.*2377T>C)
c.3260T>C (p.Phe1087Ser)
c.3137T>C (p.Phe1046Ser)
c.3083T>C (p.Phe1028Ser)
c.2903T>C (p.Phe968Ser)
c.2852T>C (p.Phe951Ser)
c.3530T>C (p.Phe1177Ser)
c.3179T>C (p.Phe1060Ser)
c.3479T>C (p.Phe1160Ser)
2g.120989192T>GCA348173202GLI2c.3227T>G (p.Phe1076Cys)
c.3278T>G (p.Phe1093Cys)
c.*2326T>G (n.*2326T>G)
c.*2377T>G (n.*2377T>G)
c.3260T>G (p.Phe1087Cys)
c.3137T>G (p.Phe1046Cys)
c.3083T>G (p.Phe1028Cys)
c.2903T>G (p.Phe968Cys)
c.2852T>G (p.Phe951Cys)
c.3530T>G (p.Phe1177Cys)
c.3179T>G (p.Phe1060Cys)
c.3479T>G (p.Phe1160Cys)
2g.120989193C>ACA348173208GLI2c.3228C>A (p.Phe1076Leu)
c.3279C>A (p.Phe1093Leu)
c.*2327C>A (n.*2327C>A)
c.*2378C>A (n.*2378C>A)
c.3261C>A (p.Phe1087Leu)
c.3138C>A (p.Phe1046Leu)
c.3084C>A (p.Phe1028Leu)
c.2904C>A (p.Phe968Leu)
c.2853C>A (p.Phe951Leu)
c.3531C>A (p.Phe1177Leu)
c.3180C>A (p.Phe1060Leu)
c.3480C>A (p.Phe1160Leu)
2g.120989193C=CA1283795518GLI2c.3228C= (p.Phe1076=)
c.3279C= (p.Phe1093=)
c.*2327C= (n.*2327C=)
c.*2378C= (n.*2378C=)
c.3261C= (p.Phe1087=)
c.3138C= (p.Phe1046=)
c.3084C= (p.Phe1028=)
c.2904C= (p.Phe968=)
c.2853C= (p.Phe951=)
c.3531C= (p.Phe1177=)
c.3180C= (p.Phe1060=)
c.3480C= (p.Phe1160=)
2g.120989193C>GCA348173211GLI2c.3228C>G (p.Phe1076Leu)
c.3279C>G (p.Phe1093Leu)
c.*2327C>G (n.*2327C>G)
c.*2378C>G (n.*2378C>G)
c.3261C>G (p.Phe1087Leu)
c.3138C>G (p.Phe1046Leu)
c.3084C>G (p.Phe1028Leu)
c.2904C>G (p.Phe968Leu)
c.2853C>G (p.Phe951Leu)
c.3531C>G (p.Phe1177Leu)
c.3180C>G (p.Phe1060Leu)
c.3480C>G (p.Phe1160Leu)
2g.120989193C>TCA10612118GLI2c.3228C>T (p.Phe1076=)
c.3279C>T (p.Phe1093=)
c.*2327C>T (n.*2327C>T)
c.*2378C>T (n.*2378C>T)
c.3261C>T (p.Phe1087=)
c.3138C>T (p.Phe1046=)
c.3084C>T (p.Phe1028=)
c.2904C>T (p.Phe968=)
c.2853C>T (p.Phe951=)
c.3531C>T (p.Phe1177=)
c.3180C>T (p.Phe1060=)
c.3480C>T (p.Phe1160=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.120989194T>ACA348173213GLI2c.3229T>A (p.Ser1077Thr)
c.3280T>A (p.Ser1094Thr)
c.*2328T>A (n.*2328T>A)
c.*2379T>A (n.*2379T>A)
c.3262T>A (p.Ser1088Thr)
c.3139T>A (p.Ser1047Thr)
c.3085T>A (p.Ser1029Thr)
c.2905T>A (p.Ser969Thr)
c.2854T>A (p.Ser952Thr)
c.3532T>A (p.Ser1178Thr)
c.3181T>A (p.Ser1061Thr)
c.3481T>A (p.Ser1161Thr)
2g.120989194T>CCA348173214GLI2c.3229T>C (p.Ser1077Pro)
c.3280T>C (p.Ser1094Pro)
c.*2328T>C (n.*2328T>C)
c.*2379T>C (n.*2379T>C)
c.3262T>C (p.Ser1088Pro)
c.3139T>C (p.Ser1047Pro)
c.3085T>C (p.Ser1029Pro)
c.2905T>C (p.Ser969Pro)
c.2854T>C (p.Ser952Pro)
c.3532T>C (p.Ser1178Pro)
c.3181T>C (p.Ser1061Pro)
c.3481T>C (p.Ser1161Pro)
2g.120989194T>GCA348173215GLI2c.3229T>G (p.Ser1077Ala)
c.3280T>G (p.Ser1094Ala)
c.*2328T>G (n.*2328T>G)
c.*2379T>G (n.*2379T>G)
c.3262T>G (p.Ser1088Ala)
c.3139T>G (p.Ser1047Ala)
c.3085T>G (p.Ser1029Ala)
c.2905T>G (p.Ser969Ala)
c.2854T>G (p.Ser952Ala)
c.3532T>G (p.Ser1178Ala)
c.3181T>G (p.Ser1061Ala)
c.3481T>G (p.Ser1161Ala)
2g.120989195C>ACA348173216GLI2c.3230C>A (p.Ser1077Tyr)
c.3281C>A (p.Ser1094Tyr)
c.*2329C>A (n.*2329C>A)
c.*2380C>A (n.*2380C>A)
c.3263C>A (p.Ser1088Tyr)
c.3140C>A (p.Ser1047Tyr)
c.3086C>A (p.Ser1029Tyr)
c.2906C>A (p.Ser969Tyr)
c.2855C>A (p.Ser952Tyr)
c.3533C>A (p.Ser1178Tyr)
c.3182C>A (p.Ser1061Tyr)
c.3482C>A (p.Ser1161Tyr)
2g.120989195C>GCA348173217GLI2c.3230C>G (p.Ser1077Cys)
c.3281C>G (p.Ser1094Cys)
c.*2329C>G (n.*2329C>G)
c.*2380C>G (n.*2380C>G)
c.3263C>G (p.Ser1088Cys)
c.3140C>G (p.Ser1047Cys)
c.3086C>G (p.Ser1029Cys)
c.2906C>G (p.Ser969Cys)
c.2855C>G (p.Ser952Cys)
c.3533C>G (p.Ser1178Cys)
c.3182C>G (p.Ser1061Cys)
c.3482C>G (p.Ser1161Cys)
2g.120989195C>TCA348173220GLI2c.3230C>T (p.Ser1077Phe)
c.3281C>T (p.Ser1094Phe)
c.*2329C>T (n.*2329C>T)
c.*2380C>T (n.*2380C>T)
c.3263C>T (p.Ser1088Phe)
c.3140C>T (p.Ser1047Phe)
c.3086C>T (p.Ser1029Phe)
c.2906C>T (p.Ser969Phe)
c.2855C>T (p.Ser952Phe)
c.3533C>T (p.Ser1178Phe)
c.3182C>T (p.Ser1061Phe)
c.3482C>T (p.Ser1161Phe)
 ClinVar
2g.120989196T>ACA428749810GLI2c.3231T>A (p.Ser1077=)
c.3282T>A (p.Ser1094=)
c.*2330T>A (n.*2330T>A)
c.*2381T>A (n.*2381T>A)
c.3264T>A (p.Ser1088=)
c.3141T>A (p.Ser1047=)
c.3087T>A (p.Ser1029=)
c.2907T>A (p.Ser969=)
c.2856T>A (p.Ser952=)
c.3534T>A (p.Ser1178=)
c.3183T>A (p.Ser1061=)
c.3483T>A (p.Ser1161=)
2g.120989196T>CCA428749811GLI2c.3231T>C (p.Ser1077=)
c.3282T>C (p.Ser1094=)
c.*2330T>C (n.*2330T>C)
c.*2381T>C (n.*2381T>C)
c.3264T>C (p.Ser1088=)
c.3141T>C (p.Ser1047=)
c.3087T>C (p.Ser1029=)
c.2907T>C (p.Ser969=)
c.2856T>C (p.Ser952=)
c.3534T>C (p.Ser1178=)
c.3183T>C (p.Ser1061=)
c.3483T>C (p.Ser1161=)
2g.120989196T>GCA428749812GLI2c.3231T>G (p.Ser1077=)
c.3282T>G (p.Ser1094=)
c.*2330T>G (n.*2330T>G)
c.*2381T>G (n.*2381T>G)
c.3264T>G (p.Ser1088=)
c.3141T>G (p.Ser1047=)
c.3087T>G (p.Ser1029=)
c.2907T>G (p.Ser969=)
c.2856T>G (p.Ser952=)
c.3534T>G (p.Ser1178=)
c.3183T>G (p.Ser1061=)
c.3483T>G (p.Ser1161=)
2g.120989197G>ACA348173224GLI2c.3232G>A (p.Asp1078Asn)
c.3283G>A (p.Asp1095Asn)
c.*2331G>A (n.*2331G>A)
c.*2382G>A (n.*2382G>A)
c.3265G>A (p.Asp1089Asn)
c.3142G>A (p.Asp1048Asn)
c.3088G>A (p.Asp1030Asn)
c.2908G>A (p.Asp970Asn)
c.2857G>A (p.Asp953Asn)
c.3535G>A (p.Asp1179Asn)
c.3184G>A (p.Asp1062Asn)
c.3484G>A (p.Asp1162Asn)
 dbSNP COSMIC
2g.120989197G>CCA54384098GLI2c.3232G>C (p.Asp1078His)
c.3283G>C (p.Asp1095His)
c.*2331G>C (n.*2331G>C)
c.*2382G>C (n.*2382G>C)
c.3265G>C (p.Asp1089His)
c.3142G>C (p.Asp1048His)
c.3088G>C (p.Asp1030His)
c.2908G>C (p.Asp970His)
c.2857G>C (p.Asp953His)
c.3535G>C (p.Asp1179His)
c.3184G>C (p.Asp1062His)
c.3484G>C (p.Asp1162His)
 dbSNP gnomAD v4
2g.120989197G=CA1283795519GLI2c.3232G= (p.Asp1078=)
c.3283G= (p.Asp1095=)
c.*2331G= (n.*2331G=)
c.*2382G= (n.*2382G=)
c.3265G= (p.Asp1089=)
c.3142G= (p.Asp1048=)
c.3088G= (p.Asp1030=)
c.2908G= (p.Asp970=)
c.2857G= (p.Asp953=)
c.3535G= (p.Asp1179=)
c.3184G= (p.Asp1062=)
c.3484G= (p.Asp1162=)
2g.120989197G>TCA348173228GLI2c.3232G>T (p.Asp1078Tyr)
c.3283G>T (p.Asp1095Tyr)
c.*2331G>T (n.*2331G>T)
c.*2382G>T (n.*2382G>T)
c.3265G>T (p.Asp1089Tyr)
c.3142G>T (p.Asp1048Tyr)
c.3088G>T (p.Asp1030Tyr)
c.2908G>T (p.Asp970Tyr)
c.2857G>T (p.Asp953Tyr)
c.3535G>T (p.Asp1179Tyr)
c.3184G>T (p.Asp1062Tyr)
c.3484G>T (p.Asp1162Tyr)
2g.120989198A>CCA348173233GLI2c.3233A>C (p.Asp1078Ala)
c.3284A>C (p.Asp1095Ala)
c.*2332A>C (n.*2332A>C)
c.*2383A>C (n.*2383A>C)
c.3266A>C (p.Asp1089Ala)
c.3143A>C (p.Asp1048Ala)
c.3089A>C (p.Asp1030Ala)
c.2909A>C (p.Asp970Ala)
c.2858A>C (p.Asp953Ala)
c.3536A>C (p.Asp1179Ala)
c.3185A>C (p.Asp1062Ala)
c.3485A>C (p.Asp1162Ala)
2g.120989198A>GCA348173236GLI2c.3233A>G (p.Asp1078Gly)
c.3284A>G (p.Asp1095Gly)
c.*2332A>G (n.*2332A>G)
c.*2383A>G (n.*2383A>G)
c.3266A>G (p.Asp1089Gly)
c.3143A>G (p.Asp1048Gly)
c.3089A>G (p.Asp1030Gly)
c.2909A>G (p.Asp970Gly)
c.2858A>G (p.Asp953Gly)
c.3536A>G (p.Asp1179Gly)
c.3185A>G (p.Asp1062Gly)
c.3485A>G (p.Asp1162Gly)
2g.120989198A>TCA348173242GLI2c.3233A>T (p.Asp1078Val)
c.3284A>T (p.Asp1095Val)
c.*2332A>T (n.*2332A>T)
c.*2383A>T (n.*2383A>T)
c.3266A>T (p.Asp1089Val)
c.3143A>T (p.Asp1048Val)
c.3089A>T (p.Asp1030Val)
c.2909A>T (p.Asp970Val)
c.2858A>T (p.Asp953Val)
c.3536A>T (p.Asp1179Val)
c.3185A>T (p.Asp1062Val)
c.3485A>T (p.Asp1162Val)
2g.120989199C>ACA54384105GLI2c.3234C>A (p.Asp1078Glu)
c.3285C>A (p.Asp1095Glu)
c.*2333C>A (n.*2333C>A)
c.*2384C>A (n.*2384C>A)
c.3267C>A (p.Asp1089Glu)
c.3144C>A (p.Asp1048Glu)
c.3090C>A (p.Asp1030Glu)
c.2910C>A (p.Asp970Glu)
c.2859C>A (p.Asp953Glu)
c.3537C>A (p.Asp1179Glu)
c.3186C>A (p.Asp1062Glu)
c.3486C>A (p.Asp1162Glu)
 dbSNP gnomAD v4
2g.120989199C=CA1283795520GLI2c.3234C= (p.Asp1078=)
c.3285C= (p.Asp1095=)
c.*2333C= (n.*2333C=)
c.*2384C= (n.*2384C=)
c.3267C= (p.Asp1089=)
c.3144C= (p.Asp1048=)
c.3090C= (p.Asp1030=)
c.2910C= (p.Asp970=)
c.2859C= (p.Asp953=)
c.3537C= (p.Asp1179=)
c.3186C= (p.Asp1062=)
c.3486C= (p.Asp1162=)
2g.120989199C>GCA348173250GLI2c.3234C>G (p.Asp1078Glu)
c.3285C>G (p.Asp1095Glu)
c.*2333C>G (n.*2333C>G)
c.*2384C>G (n.*2384C>G)
c.3267C>G (p.Asp1089Glu)
c.3144C>G (p.Asp1048Glu)
c.3090C>G (p.Asp1030Glu)
c.2910C>G (p.Asp970Glu)
c.2859C>G (p.Asp953Glu)
c.3537C>G (p.Asp1179Glu)
c.3186C>G (p.Asp1062Glu)
c.3486C>G (p.Asp1162Glu)
2g.120989199C>TCA1852352GLI2c.3234C>T (p.Asp1078=)
c.3285C>T (p.Asp1095=)
c.*2333C>T (n.*2333C>T)
c.*2384C>T (n.*2384C>T)
c.3267C>T (p.Asp1089=)
c.3144C>T (p.Asp1048=)
c.3090C>T (p.Asp1030=)
c.2910C>T (p.Asp970=)
c.2859C>T (p.Asp953=)
c.3537C>T (p.Asp1179=)
c.3186C>T (p.Asp1062=)
c.3486C>T (p.Asp1162=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989200A>CCA348173253GLI2c.3235A>C (p.Asn1079His)
c.3286A>C (p.Asn1096His)
c.*2334A>C (n.*2334A>C)
c.*2385A>C (n.*2385A>C)
c.3268A>C (p.Asn1090His)
c.3145A>C (p.Asn1049His)
c.3091A>C (p.Asn1031His)
c.2911A>C (p.Asn971His)
c.2860A>C (p.Asn954His)
c.3538A>C (p.Asn1180His)
c.3187A>C (p.Asn1063His)
c.3487A>C (p.Asn1163His)
2g.120989200A>GCA348173256GLI2c.3235A>G (p.Asn1079Asp)
c.3286A>G (p.Asn1096Asp)
c.*2334A>G (n.*2334A>G)
c.*2385A>G (n.*2385A>G)
c.3268A>G (p.Asn1090Asp)
c.3145A>G (p.Asn1049Asp)
c.3091A>G (p.Asn1031Asp)
c.2911A>G (p.Asn971Asp)
c.2860A>G (p.Asn954Asp)
c.3538A>G (p.Asn1180Asp)
c.3187A>G (p.Asn1063Asp)
c.3487A>G (p.Asn1163Asp)
2g.120989200A>TCA348173260GLI2c.3235A>T (p.Asn1079Tyr)
c.3286A>T (p.Asn1096Tyr)
c.*2334A>T (n.*2334A>T)
c.*2385A>T (n.*2385A>T)
c.3268A>T (p.Asn1090Tyr)
c.3145A>T (p.Asn1049Tyr)
c.3091A>T (p.Asn1031Tyr)
c.2911A>T (p.Asn971Tyr)
c.2860A>T (p.Asn954Tyr)
c.3538A>T (p.Asn1180Tyr)
c.3187A>T (p.Asn1063Tyr)
c.3487A>T (p.Asn1163Tyr)
2g.120989201A=CA1283795521GLI2c.3236A= (p.Asn1079=)
c.3287A= (p.Asn1096=)
c.*2335A= (n.*2335A=)
c.*2386A= (n.*2386A=)
c.3269A= (p.Asn1090=)
c.3146A= (p.Asn1049=)
c.3092A= (p.Asn1031=)
c.2912A= (p.Asn971=)
c.2861A= (p.Asn954=)
c.3539A= (p.Asn1180=)
c.3188A= (p.Asn1063=)
c.3488A= (p.Asn1163=)
2g.120989201A>CCA348173263GLI2c.3236A>C (p.Asn1079Thr)
c.3287A>C (p.Asn1096Thr)
c.*2335A>C (n.*2335A>C)
c.*2386A>C (n.*2386A>C)
c.3269A>C (p.Asn1090Thr)
c.3146A>C (p.Asn1049Thr)
c.3092A>C (p.Asn1031Thr)
c.2912A>C (p.Asn971Thr)
c.2861A>C (p.Asn954Thr)
c.3539A>C (p.Asn1180Thr)
c.3188A>C (p.Asn1063Thr)
c.3488A>C (p.Asn1163Thr)
2g.120989201A>GCA348173265GLI2c.3236A>G (p.Asn1079Ser)
c.3287A>G (p.Asn1096Ser)
c.*2335A>G (n.*2335A>G)
c.*2386A>G (n.*2386A>G)
c.3269A>G (p.Asn1090Ser)
c.3146A>G (p.Asn1049Ser)
c.3092A>G (p.Asn1031Ser)
c.2912A>G (p.Asn971Ser)
c.2861A>G (p.Asn954Ser)
c.3539A>G (p.Asn1180Ser)
c.3188A>G (p.Asn1063Ser)
c.3488A>G (p.Asn1163Ser)
 dbSNP gnomAD v2
2g.120989201A>TCA348173266GLI2c.3236A>T (p.Asn1079Ile)
c.3287A>T (p.Asn1096Ile)
c.*2335A>T (n.*2335A>T)
c.*2386A>T (n.*2386A>T)
c.3269A>T (p.Asn1090Ile)
c.3146A>T (p.Asn1049Ile)
c.3092A>T (p.Asn1031Ile)
c.2912A>T (p.Asn971Ile)
c.2861A>T (p.Asn954Ile)
c.3539A>T (p.Asn1180Ile)
c.3188A>T (p.Asn1063Ile)
c.3488A>T (p.Asn1163Ile)
2g.120989202C>ACA348173269GLI2c.3237C>A (p.Asn1079Lys)
c.3288C>A (p.Asn1096Lys)
c.*2336C>A (n.*2336C>A)
c.*2387C>A (n.*2387C>A)
c.3270C>A (p.Asn1090Lys)
c.3147C>A (p.Asn1049Lys)
c.3093C>A (p.Asn1031Lys)
c.2913C>A (p.Asn971Lys)
c.2862C>A (p.Asn954Lys)
c.3540C>A (p.Asn1180Lys)
c.3189C>A (p.Asn1063Lys)
c.3489C>A (p.Asn1163Lys)
2g.120989202C>GCA348173270GLI2c.3237C>G (p.Asn1079Lys)
c.3288C>G (p.Asn1096Lys)
c.*2336C>G (n.*2336C>G)
c.*2387C>G (n.*2387C>G)
c.3270C>G (p.Asn1090Lys)
c.3147C>G (p.Asn1049Lys)
c.3093C>G (p.Asn1031Lys)
c.2913C>G (p.Asn971Lys)
c.2862C>G (p.Asn954Lys)
c.3540C>G (p.Asn1180Lys)
c.3189C>G (p.Asn1063Lys)
c.3489C>G (p.Asn1163Lys)
2g.120989202C>TCA428749814GLI2c.3237C>T (p.Asn1079=)
c.3288C>T (p.Asn1096=)
c.*2336C>T (n.*2336C>T)
c.*2387C>T (n.*2387C>T)
c.3270C>T (p.Asn1090=)
c.3147C>T (p.Asn1049=)
c.3093C>T (p.Asn1031=)
c.2913C>T (p.Asn971=)
c.2862C>T (p.Asn954=)
c.3540C>T (p.Asn1180=)
c.3189C>T (p.Asn1063=)
c.3489C>T (p.Asn1163=)
 gnomAD v4
2g.120989203C>ACA348173273GLI2c.3238C>A (p.Pro1080Thr)
c.3289C>A (p.Pro1097Thr)
c.*2337C>A (n.*2337C>A)
c.*2388C>A (n.*2388C>A)
c.3271C>A (p.Pro1091Thr)
c.3148C>A (p.Pro1050Thr)
c.3094C>A (p.Pro1032Thr)
c.2914C>A (p.Pro972Thr)
c.2863C>A (p.Pro955Thr)
c.3541C>A (p.Pro1181Thr)
c.3190C>A (p.Pro1064Thr)
c.3490C>A (p.Pro1164Thr)
2g.120989203C>GCA348173274GLI2c.3238C>G (p.Pro1080Ala)
c.3289C>G (p.Pro1097Ala)
c.*2337C>G (n.*2337C>G)
c.*2388C>G (n.*2388C>G)
c.3271C>G (p.Pro1091Ala)
c.3148C>G (p.Pro1050Ala)
c.3094C>G (p.Pro1032Ala)
c.2914C>G (p.Pro972Ala)
c.2863C>G (p.Pro955Ala)
c.3541C>G (p.Pro1181Ala)
c.3190C>G (p.Pro1064Ala)
c.3490C>G (p.Pro1164Ala)
2g.120989203C>TCA348173275GLI2c.3238C>T (p.Pro1080Ser)
c.3289C>T (p.Pro1097Ser)
c.*2337C>T (n.*2337C>T)
c.*2388C>T (n.*2388C>T)
c.3271C>T (p.Pro1091Ser)
c.3148C>T (p.Pro1050Ser)
c.3094C>T (p.Pro1032Ser)
c.2914C>T (p.Pro972Ser)
c.2863C>T (p.Pro955Ser)
c.3541C>T (p.Pro1181Ser)
c.3190C>T (p.Pro1064Ser)
c.3490C>T (p.Pro1164Ser)
 gnomAD v4
2g.120989208_120989216delCA2700356883GLI2c.3243_3251del (p.Arg1081_Pro1083del)
c.3294_3302del (p.Arg1098_Pro1100del)
c.*2342_*2350del (n.*2342_*2350del)
c.*2393_*2401del (n.*2393_*2401del)
c.3276_3284del (p.Arg1092_Pro1094del)
c.3153_3161del (p.Arg1051_Pro1053del)
c.3099_3107del (p.Arg1033_Pro1035del)
c.2919_2927del (p.Arg973_Pro975del)
c.2868_2876del (p.Arg956_Pro958del)
c.3546_3554del (p.Arg1182_Pro1184del)
c.3195_3203del (p.Arg1065_Pro1067del)
c.3495_3503del (p.Arg1165_Pro1167del)
 dbSNP
2g.120989204C>ACA348173276GLI2c.3239C>A (p.Pro1080His)
c.3290C>A (p.Pro1097His)
c.*2338C>A (n.*2338C>A)
c.*2389C>A (n.*2389C>A)
c.3272C>A (p.Pro1091His)
c.3149C>A (p.Pro1050His)
c.3095C>A (p.Pro1032His)
c.2915C>A (p.Pro972His)
c.2864C>A (p.Pro955His)
c.3542C>A (p.Pro1181His)
c.3191C>A (p.Pro1064His)
c.3491C>A (p.Pro1164His)
2g.120989204C=CA1283795522GLI2c.3239C= (p.Pro1080=)
c.3290C= (p.Pro1097=)
c.*2338C= (n.*2338C=)
c.*2389C= (n.*2389C=)
c.3272C= (p.Pro1091=)
c.3149C= (p.Pro1050=)
c.3095C= (p.Pro1032=)
c.2915C= (p.Pro972=)
c.2864C= (p.Pro955=)
c.3542C= (p.Pro1181=)
c.3191C= (p.Pro1064=)
c.3491C= (p.Pro1164=)
2g.120989204C>GCA348173278GLI2c.3239C>G (p.Pro1080Arg)
c.3290C>G (p.Pro1097Arg)
c.*2338C>G (n.*2338C>G)
c.*2389C>G (n.*2389C>G)
c.3272C>G (p.Pro1091Arg)
c.3149C>G (p.Pro1050Arg)
c.3095C>G (p.Pro1032Arg)
c.2915C>G (p.Pro972Arg)
c.2864C>G (p.Pro955Arg)
c.3542C>G (p.Pro1181Arg)
c.3191C>G (p.Pro1064Arg)
c.3491C>G (p.Pro1164Arg)
2g.120989204C>TCA1852353GLI2c.3239C>T (p.Pro1080Leu)
c.3290C>T (p.Pro1097Leu)
c.*2338C>T (n.*2338C>T)
c.*2389C>T (n.*2389C>T)
c.3272C>T (p.Pro1091Leu)
c.3149C>T (p.Pro1050Leu)
c.3095C>T (p.Pro1032Leu)
c.2915C>T (p.Pro972Leu)
c.2864C>T (p.Pro955Leu)
c.3542C>T (p.Pro1181Leu)
c.3191C>T (p.Pro1064Leu)
c.3491C>T (p.Pro1164Leu)
 dbSNP ExAC gnomAD v2
2g.120989205C>ACA428749815GLI2c.3240C>A (p.Pro1080=)
c.3291C>A (p.Pro1097=)
c.*2339C>A (n.*2339C>A)
c.*2390C>A (n.*2390C>A)
c.3273C>A (p.Pro1091=)
c.3150C>A (p.Pro1050=)
c.3096C>A (p.Pro1032=)
c.2916C>A (p.Pro972=)
c.2865C>A (p.Pro955=)
c.3543C>A (p.Pro1181=)
c.3192C>A (p.Pro1064=)
c.3492C>A (p.Pro1164=)
2g.120989205C>GCA428749816GLI2c.3240C>G (p.Pro1080=)
c.3291C>G (p.Pro1097=)
c.*2339C>G (n.*2339C>G)
c.*2390C>G (n.*2390C>G)
c.3273C>G (p.Pro1091=)
c.3150C>G (p.Pro1050=)
c.3096C>G (p.Pro1032=)
c.2916C>G (p.Pro972=)
c.2865C>G (p.Pro955=)
c.3543C>G (p.Pro1181=)
c.3192C>G (p.Pro1064=)
c.3492C>G (p.Pro1164=)
2g.120989205C>TCA428749817GLI2c.3240C>T (p.Pro1080=)
c.3291C>T (p.Pro1097=)
c.*2339C>T (n.*2339C>T)
c.*2390C>T (n.*2390C>T)
c.3273C>T (p.Pro1091=)
c.3150C>T (p.Pro1050=)
c.3096C>T (p.Pro1032=)
c.2916C>T (p.Pro972=)
c.2865C>T (p.Pro955=)
c.3543C>T (p.Pro1181=)
c.3192C>T (p.Pro1064=)
c.3492C>T (p.Pro1164=)
2g.120989206A=CA1283795523GLI2c.3241A= (p.Arg1081=)
c.3292A= (p.Arg1098=)
c.*2340A= (n.*2340A=)
c.*2391A= (n.*2391A=)
c.3274A= (p.Arg1092=)
c.3151A= (p.Arg1051=)
c.3097A= (p.Arg1033=)
c.2917A= (p.Arg973=)
c.2866A= (p.Arg956=)
c.3544A= (p.Arg1182=)
c.3193A= (p.Arg1065=)
c.3493A= (p.Arg1165=)
2g.120989206A>CCA428749818GLI2c.3241A>C (p.Arg1081=)
c.3292A>C (p.Arg1098=)
c.*2340A>C (n.*2340A>C)
c.*2391A>C (n.*2391A>C)
c.3274A>C (p.Arg1092=)
c.3151A>C (p.Arg1051=)
c.3097A>C (p.Arg1033=)
c.2917A>C (p.Arg973=)
c.2866A>C (p.Arg956=)
c.3544A>C (p.Arg1182=)
c.3193A>C (p.Arg1065=)
c.3493A>C (p.Arg1165=)
 dbSNP
2g.120989206A>GCA348173284GLI2c.3241A>G (p.Arg1081Gly)
c.3292A>G (p.Arg1098Gly)
c.*2340A>G (n.*2340A>G)
c.*2391A>G (n.*2391A>G)
c.3274A>G (p.Arg1092Gly)
c.3151A>G (p.Arg1051Gly)
c.3097A>G (p.Arg1033Gly)
c.2917A>G (p.Arg973Gly)
c.2866A>G (p.Arg956Gly)
c.3544A>G (p.Arg1182Gly)
c.3193A>G (p.Arg1065Gly)
c.3493A>G (p.Arg1165Gly)
 dbSNP gnomAD v4
2g.120989206A>TCA348173285GLI2c.3241A>T (p.Arg1081Ter)
c.3292A>T (p.Arg1098Ter)
c.*2340A>T (n.*2340A>T)
c.*2391A>T (n.*2391A>T)
c.3274A>T (p.Arg1092Ter)
c.3151A>T (p.Arg1051Ter)
c.3097A>T (p.Arg1033Ter)
c.2917A>T (p.Arg973Ter)
c.2866A>T (p.Arg956Ter)
c.3544A>T (p.Arg1182Ter)
c.3193A>T (p.Arg1065Ter)
c.3493A>T (p.Arg1165Ter)
2g.120989207G>ACA348173286GLI2c.3242G>A (p.Arg1081Lys)
c.3293G>A (p.Arg1098Lys)
c.*2341G>A (n.*2341G>A)
c.*2392G>A (n.*2392G>A)
c.3275G>A (p.Arg1092Lys)
c.3152G>A (p.Arg1051Lys)
c.3098G>A (p.Arg1033Lys)
c.2918G>A (p.Arg973Lys)
c.2867G>A (p.Arg956Lys)
c.3545G>A (p.Arg1182Lys)
c.3194G>A (p.Arg1065Lys)
c.3494G>A (p.Arg1165Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.120989207G>CCA348173289GLI2c.3242G>C (p.Arg1081Thr)
c.3293G>C (p.Arg1098Thr)
c.*2341G>C (n.*2341G>C)
c.*2392G>C (n.*2392G>C)
c.3275G>C (p.Arg1092Thr)
c.3152G>C (p.Arg1051Thr)
c.3098G>C (p.Arg1033Thr)
c.2918G>C (p.Arg973Thr)
c.2867G>C (p.Arg956Thr)
c.3545G>C (p.Arg1182Thr)
c.3194G>C (p.Arg1065Thr)
c.3494G>C (p.Arg1165Thr)
2g.120989207G=CA1283795524GLI2c.3242G= (p.Arg1081=)
c.3293G= (p.Arg1098=)
c.*2341G= (n.*2341G=)
c.*2392G= (n.*2392G=)
c.3275G= (p.Arg1092=)
c.3152G= (p.Arg1051=)
c.3098G= (p.Arg1033=)
c.2918G= (p.Arg973=)
c.2867G= (p.Arg956=)
c.3545G= (p.Arg1182=)
c.3194G= (p.Arg1065=)
c.3494G= (p.Arg1165=)
2g.120989207G>TCA1852354GLI2c.3242G>T (p.Arg1081Ile)
c.3293G>T (p.Arg1098Ile)
c.*2341G>T (n.*2341G>T)
c.*2392G>T (n.*2392G>T)
c.3275G>T (p.Arg1092Ile)
c.3152G>T (p.Arg1051Ile)
c.3098G>T (p.Arg1033Ile)
c.2918G>T (p.Arg973Ile)
c.2867G>T (p.Arg956Ile)
c.3545G>T (p.Arg1182Ile)
c.3194G>T (p.Arg1065Ile)
c.3494G>T (p.Arg1165Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989208A>CCA348173290GLI2c.3243A>C (p.Arg1081Ser)
c.3294A>C (p.Arg1098Ser)
c.*2342A>C (n.*2342A>C)
c.*2393A>C (n.*2393A>C)
c.3276A>C (p.Arg1092Ser)
c.3153A>C (p.Arg1051Ser)
c.3099A>C (p.Arg1033Ser)
c.2919A>C (p.Arg973Ser)
c.2868A>C (p.Arg956Ser)
c.3546A>C (p.Arg1182Ser)
c.3195A>C (p.Arg1065Ser)
c.3495A>C (p.Arg1165Ser)
2g.120989208A>GCA428749819GLI2c.3243A>G (p.Arg1081=)
c.3294A>G (p.Arg1098=)
c.*2342A>G (n.*2342A>G)
c.*2393A>G (n.*2393A>G)
c.3276A>G (p.Arg1092=)
c.3153A>G (p.Arg1051=)
c.3099A>G (p.Arg1033=)
c.2919A>G (p.Arg973=)
c.2868A>G (p.Arg956=)
c.3546A>G (p.Arg1182=)
c.3195A>G (p.Arg1065=)
c.3495A>G (p.Arg1165=)
 gnomAD v4
2g.120989208A>TCA348173291GLI2c.3243A>T (p.Arg1081Ser)
c.3294A>T (p.Arg1098Ser)
c.*2342A>T (n.*2342A>T)
c.*2393A>T (n.*2393A>T)
c.3276A>T (p.Arg1092Ser)
c.3153A>T (p.Arg1051Ser)
c.3099A>T (p.Arg1033Ser)
c.2919A>T (p.Arg973Ser)
c.2868A>T (p.Arg956Ser)
c.3546A>T (p.Arg1182Ser)
c.3195A>T (p.Arg1065Ser)
c.3495A>T (p.Arg1165Ser)
 gnomAD v4
2g.120989208_120989209delCA2586969872GLI2c.3243_3244del (p.Arg1081SerfsTer?)
c.3294_3295del (p.Arg1098SerfsTer?)
c.*2342_*2343del (n.*2342_*2343del)
c.*2393_*2394del (n.*2393_*2394del)
c.3276_3277del (p.Arg1092SerfsTer?)
c.3153_3154del (p.Arg1051SerfsTer?)
c.3099_3100del (p.Arg1033SerfsTer?)
c.2919_2920del (p.Arg973SerfsTer?)
c.2868_2869del (p.Arg956SerfsTer?)
c.3546_3547del (p.Arg1182SerfsTer?)
c.3195_3196del (p.Arg1065SerfsTer?)
c.3495_3496del (p.Arg1165SerfsTer?)
2g.120989209delCA2695197011GLI2c.3244del (p.Leu1082TyrfsTer?)
c.3295del (p.Leu1099TyrfsTer?)
c.*2343del (n.*2343del)
c.*2394del (n.*2394del)
c.3277del (p.Leu1093TyrfsTer?)
c.3154del (p.Leu1052TyrfsTer?)
c.3100del (p.Leu1034TyrfsTer?)
c.2920del (p.Leu974TyrfsTer?)
c.2869del (p.Leu957TyrfsTer?)
c.3547del (p.Leu1183TyrfsTer?)
c.3196del (p.Leu1066TyrfsTer?)
c.3496del (p.Leu1166TyrfsTer?)
 ClinVar
2g.120989209C>ACA348173292GLI2c.3244C>A (p.Leu1082Ile)
c.3295C>A (p.Leu1099Ile)
c.*2343C>A (n.*2343C>A)
c.*2394C>A (n.*2394C>A)
c.3277C>A (p.Leu1093Ile)
c.3154C>A (p.Leu1052Ile)
c.3100C>A (p.Leu1034Ile)
c.2920C>A (p.Leu974Ile)
c.2869C>A (p.Leu957Ile)
c.3547C>A (p.Leu1183Ile)
c.3196C>A (p.Leu1066Ile)
c.3496C>A (p.Leu1166Ile)
2g.120989209C>GCA348173294GLI2c.3244C>G (p.Leu1082Val)
c.3295C>G (p.Leu1099Val)
c.*2343C>G (n.*2343C>G)
c.*2394C>G (n.*2394C>G)
c.3277C>G (p.Leu1093Val)
c.3154C>G (p.Leu1052Val)
c.3100C>G (p.Leu1034Val)
c.2920C>G (p.Leu974Val)
c.2869C>G (p.Leu957Val)
c.3547C>G (p.Leu1183Val)
c.3196C>G (p.Leu1066Val)
c.3496C>G (p.Leu1166Val)
2g.120989209C>TCA428749820GLI2c.3244C>T (p.Leu1082=)
c.3295C>T (p.Leu1099=)
c.*2343C>T (n.*2343C>T)
c.*2394C>T (n.*2394C>T)
c.3277C>T (p.Leu1093=)
c.3154C>T (p.Leu1052=)
c.3100C>T (p.Leu1034=)
c.2920C>T (p.Leu974=)
c.2869C>T (p.Leu957=)
c.3547C>T (p.Leu1183=)
c.3196C>T (p.Leu1066=)
c.3496C>T (p.Leu1166=)
2g.120989210T>ACA348173296GLI2c.3245T>A (p.Leu1082Gln)
c.3296T>A (p.Leu1099Gln)
c.*2344T>A (n.*2344T>A)
c.*2395T>A (n.*2395T>A)
c.3278T>A (p.Leu1093Gln)
c.3155T>A (p.Leu1052Gln)
c.3101T>A (p.Leu1034Gln)
c.2921T>A (p.Leu974Gln)
c.2870T>A (p.Leu957Gln)
c.3548T>A (p.Leu1183Gln)
c.3197T>A (p.Leu1066Gln)
c.3497T>A (p.Leu1166Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.120989210T>CCA348173297GLI2c.3245T>C (p.Leu1082Pro)
c.3296T>C (p.Leu1099Pro)
c.*2344T>C (n.*2344T>C)
c.*2395T>C (n.*2395T>C)
c.3278T>C (p.Leu1093Pro)
c.3155T>C (p.Leu1052Pro)
c.3101T>C (p.Leu1034Pro)
c.2921T>C (p.Leu974Pro)
c.2870T>C (p.Leu957Pro)
c.3548T>C (p.Leu1183Pro)
c.3197T>C (p.Leu1066Pro)
c.3497T>C (p.Leu1166Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.120989210T>GCA348173299GLI2c.3245T>G (p.Leu1082Arg)
c.3296T>G (p.Leu1099Arg)
c.*2344T>G (n.*2344T>G)
c.*2395T>G (n.*2395T>G)
c.3278T>G (p.Leu1093Arg)
c.3155T>G (p.Leu1052Arg)
c.3101T>G (p.Leu1034Arg)
c.2921T>G (p.Leu974Arg)
c.2870T>G (p.Leu957Arg)
c.3548T>G (p.Leu1183Arg)
c.3197T>G (p.Leu1066Arg)
c.3497T>G (p.Leu1166Arg)
2g.120989210T=CA1283795525GLI2c.3245T= (p.Leu1082=)
c.3296T= (p.Leu1099=)
c.*2344T= (n.*2344T=)
c.*2395T= (n.*2395T=)
c.3278T= (p.Leu1093=)
c.3155T= (p.Leu1052=)
c.3101T= (p.Leu1034=)
c.2921T= (p.Leu974=)
c.2870T= (p.Leu957=)
c.3548T= (p.Leu1183=)
c.3197T= (p.Leu1066=)
c.3497T= (p.Leu1166=)
2g.120989211A>CCA428749821GLI2c.3246A>C (p.Leu1082=)
c.3297A>C (p.Leu1099=)
c.*2345A>C (n.*2345A>C)
c.*2396A>C (n.*2396A>C)
c.3279A>C (p.Leu1093=)
c.3156A>C (p.Leu1052=)
c.3102A>C (p.Leu1034=)
c.2922A>C (p.Leu974=)
c.2871A>C (p.Leu957=)
c.3549A>C (p.Leu1183=)
c.3198A>C (p.Leu1066=)
c.3498A>C (p.Leu1166=)
2g.120989211A>GCA428749822GLI2c.3246A>G (p.Leu1082=)
c.3297A>G (p.Leu1099=)
c.*2345A>G (n.*2345A>G)
c.*2396A>G (n.*2396A>G)
c.3279A>G (p.Leu1093=)
c.3156A>G (p.Leu1052=)
c.3102A>G (p.Leu1034=)
c.2922A>G (p.Leu974=)
c.2871A>G (p.Leu957=)
c.3549A>G (p.Leu1183=)
c.3198A>G (p.Leu1066=)
c.3498A>G (p.Leu1166=)
2g.120989211A>TCA428749823GLI2c.3246A>T (p.Leu1082=)
c.3297A>T (p.Leu1099=)
c.*2345A>T (n.*2345A>T)
c.*2396A>T (n.*2396A>T)
c.3279A>T (p.Leu1093=)
c.3156A>T (p.Leu1052=)
c.3102A>T (p.Leu1034=)
c.2922A>T (p.Leu974=)
c.2871A>T (p.Leu957=)
c.3549A>T (p.Leu1183=)
c.3198A>T (p.Leu1066=)
c.3498A>T (p.Leu1166=)
2g.120989212C>ACA348173301GLI2c.3247C>A (p.Pro1083Thr)
c.3298C>A (p.Pro1100Thr)
c.*2346C>A (n.*2346C>A)
c.*2397C>A (n.*2397C>A)
c.3280C>A (p.Pro1094Thr)
c.3157C>A (p.Pro1053Thr)
c.3103C>A (p.Pro1035Thr)
c.2923C>A (p.Pro975Thr)
c.2872C>A (p.Pro958Thr)
c.3550C>A (p.Pro1184Thr)
c.3199C>A (p.Pro1067Thr)
c.3499C>A (p.Pro1167Thr)
2g.120989212C=CA1283795526GLI2c.3247C= (p.Pro1083=)
c.3298C= (p.Pro1100=)
c.*2346C= (n.*2346C=)
c.*2397C= (n.*2397C=)
c.3280C= (p.Pro1094=)
c.3157C= (p.Pro1053=)
c.3103C= (p.Pro1035=)
c.2923C= (p.Pro975=)
c.2872C= (p.Pro958=)
c.3550C= (p.Pro1184=)
c.3199C= (p.Pro1067=)
c.3499C= (p.Pro1167=)
2g.120989212C>GCA348173304GLI2c.3247C>G (p.Pro1083Ala)
c.3298C>G (p.Pro1100Ala)
c.*2346C>G (n.*2346C>G)
c.*2397C>G (n.*2397C>G)
c.3280C>G (p.Pro1094Ala)
c.3157C>G (p.Pro1053Ala)
c.3103C>G (p.Pro1035Ala)
c.2923C>G (p.Pro975Ala)
c.2872C>G (p.Pro958Ala)
c.3550C>G (p.Pro1184Ala)
c.3199C>G (p.Pro1067Ala)
c.3499C>G (p.Pro1167Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.120989212C>TCA348173307GLI2c.3247C>T (p.Pro1083Ser)
c.3298C>T (p.Pro1100Ser)
c.*2346C>T (n.*2346C>T)
c.*2397C>T (n.*2397C>T)
c.3280C>T (p.Pro1094Ser)
c.3157C>T (p.Pro1053Ser)
c.3103C>T (p.Pro1035Ser)
c.2923C>T (p.Pro975Ser)
c.2872C>T (p.Pro958Ser)
c.3550C>T (p.Pro1184Ser)
c.3199C>T (p.Pro1067Ser)
c.3499C>T (p.Pro1167Ser)
 gnomAD v4
2g.120989213C>ACA348173310GLI2c.3248C>A (p.Pro1083His)
c.3299C>A (p.Pro1100His)
c.*2347C>A (n.*2347C>A)
c.*2398C>A (n.*2398C>A)
c.3281C>A (p.Pro1094His)
c.3158C>A (p.Pro1053His)
c.3104C>A (p.Pro1035His)
c.2924C>A (p.Pro975His)
c.2873C>A (p.Pro958His)
c.3551C>A (p.Pro1184His)
c.3200C>A (p.Pro1067His)
c.3500C>A (p.Pro1167His)
 dbSNP gnomAD v2
2g.120989213C=CA1283795527GLI2c.3248C= (p.Pro1083=)
c.3299C= (p.Pro1100=)
c.*2347C= (n.*2347C=)
c.*2398C= (n.*2398C=)
c.3281C= (p.Pro1094=)
c.3158C= (p.Pro1053=)
c.3104C= (p.Pro1035=)
c.2924C= (p.Pro975=)
c.2873C= (p.Pro958=)
c.3551C= (p.Pro1184=)
c.3200C= (p.Pro1067=)
c.3500C= (p.Pro1167=)
2g.120989213C>GCA348173312GLI2c.3248C>G (p.Pro1083Arg)
c.3299C>G (p.Pro1100Arg)
c.*2347C>G (n.*2347C>G)
c.*2398C>G (n.*2398C>G)
c.3281C>G (p.Pro1094Arg)
c.3158C>G (p.Pro1053Arg)
c.3104C>G (p.Pro1035Arg)
c.2924C>G (p.Pro975Arg)
c.2873C>G (p.Pro958Arg)
c.3551C>G (p.Pro1184Arg)
c.3200C>G (p.Pro1067Arg)
c.3500C>G (p.Pro1167Arg)
 gnomAD v4
2g.120989213C>TCA348173314GLI2c.3248C>T (p.Pro1083Leu)
c.3299C>T (p.Pro1100Leu)
c.*2347C>T (n.*2347C>T)
c.*2398C>T (n.*2398C>T)
c.3281C>T (p.Pro1094Leu)
c.3158C>T (p.Pro1053Leu)
c.3104C>T (p.Pro1035Leu)
c.2924C>T (p.Pro975Leu)
c.2873C>T (p.Pro958Leu)
c.3551C>T (p.Pro1184Leu)
c.3200C>T (p.Pro1067Leu)
c.3500C>T (p.Pro1167Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.120989214C>ACA428749826GLI2c.3249C>A (p.Pro1083=)
c.3300C>A (p.Pro1100=)
c.*2348C>A (n.*2348C>A)
c.*2399C>A (n.*2399C>A)
c.3282C>A (p.Pro1094=)
c.3159C>A (p.Pro1053=)
c.3105C>A (p.Pro1035=)
c.2925C>A (p.Pro975=)
c.2874C>A (p.Pro958=)
c.3552C>A (p.Pro1184=)
c.3201C>A (p.Pro1067=)
c.3501C>A (p.Pro1167=)
2g.120989214C>GCA428749827GLI2c.3249C>G (p.Pro1083=)
c.3300C>G (p.Pro1100=)
c.*2348C>G (n.*2348C>G)
c.*2399C>G (n.*2399C>G)
c.3282C>G (p.Pro1094=)
c.3159C>G (p.Pro1053=)
c.3105C>G (p.Pro1035=)
c.2925C>G (p.Pro975=)
c.2874C>G (p.Pro958=)
c.3552C>G (p.Pro1184=)
c.3201C>G (p.Pro1067=)
c.3501C>G (p.Pro1167=)
2g.120989214C>TCA428749825GLI2c.3249C>T (p.Pro1083=)
c.3300C>T (p.Pro1100=)
c.*2348C>T (n.*2348C>T)
c.*2399C>T (n.*2399C>T)
c.3282C>T (p.Pro1094=)
c.3159C>T (p.Pro1053=)
c.3105C>T (p.Pro1035=)
c.2925C>T (p.Pro975=)
c.2874C>T (p.Pro958=)
c.3552C>T (p.Pro1184=)
c.3201C>T (p.Pro1067=)
c.3501C>T (p.Pro1167=)
2g.120989215A>CCA348173316GLI2c.3250A>C (p.Ser1084Arg)
c.3301A>C (p.Ser1101Arg)
c.*2349A>C (n.*2349A>C)
c.*2400A>C (n.*2400A>C)
c.3283A>C (p.Ser1095Arg)
c.3160A>C (p.Ser1054Arg)
c.3106A>C (p.Ser1036Arg)
c.2926A>C (p.Ser976Arg)
c.2875A>C (p.Ser959Arg)
c.3553A>C (p.Ser1185Arg)
c.3202A>C (p.Ser1068Arg)
c.3502A>C (p.Ser1168Arg)
2g.120989215A>GCA348173319GLI2c.3250A>G (p.Ser1084Gly)
c.3301A>G (p.Ser1101Gly)
c.*2349A>G (n.*2349A>G)
c.*2400A>G (n.*2400A>G)
c.3283A>G (p.Ser1095Gly)
c.3160A>G (p.Ser1054Gly)
c.3106A>G (p.Ser1036Gly)
c.2926A>G (p.Ser976Gly)
c.2875A>G (p.Ser959Gly)
c.3553A>G (p.Ser1185Gly)
c.3202A>G (p.Ser1068Gly)
c.3502A>G (p.Ser1168Gly)
2g.120989215A>TCA348173318GLI2c.3250A>T (p.Ser1084Cys)
c.3301A>T (p.Ser1101Cys)
c.*2349A>T (n.*2349A>T)
c.*2400A>T (n.*2400A>T)
c.3283A>T (p.Ser1095Cys)
c.3160A>T (p.Ser1054Cys)
c.3106A>T (p.Ser1036Cys)
c.2926A>T (p.Ser976Cys)
c.2875A>T (p.Ser959Cys)
c.3553A>T (p.Ser1185Cys)
c.3202A>T (p.Ser1068Cys)
c.3502A>T (p.Ser1168Cys)
2g.120989216G>ACA348173323GLI2c.3251G>A (p.Ser1084Asn)
c.3302G>A (p.Ser1101Asn)
c.*2350G>A (n.*2350G>A)
c.*2401G>A (n.*2401G>A)
c.3284G>A (p.Ser1095Asn)
c.3161G>A (p.Ser1054Asn)
c.3107G>A (p.Ser1036Asn)
c.2927G>A (p.Ser976Asn)
c.2876G>A (p.Ser959Asn)
c.3554G>A (p.Ser1185Asn)
c.3203G>A (p.Ser1068Asn)
c.3503G>A (p.Ser1168Asn)
2g.120989216G>CCA348173325GLI2c.3251G>C (p.Ser1084Thr)
c.3302G>C (p.Ser1101Thr)
c.*2350G>C (n.*2350G>C)
c.*2401G>C (n.*2401G>C)
c.3284G>C (p.Ser1095Thr)
c.3161G>C (p.Ser1054Thr)
c.3107G>C (p.Ser1036Thr)
c.2927G>C (p.Ser976Thr)
c.2876G>C (p.Ser959Thr)
c.3554G>C (p.Ser1185Thr)
c.3203G>C (p.Ser1068Thr)
c.3503G>C (p.Ser1168Thr)
2g.120989216G>TCA348173327GLI2c.3251G>T (p.Ser1084Ile)
c.3302G>T (p.Ser1101Ile)
c.*2350G>T (n.*2350G>T)
c.*2401G>T (n.*2401G>T)
c.3284G>T (p.Ser1095Ile)
c.3161G>T (p.Ser1054Ile)
c.3107G>T (p.Ser1036Ile)
c.2927G>T (p.Ser976Ile)
c.2876G>T (p.Ser959Ile)
c.3554G>T (p.Ser1185Ile)
c.3203G>T (p.Ser1068Ile)
c.3503G>T (p.Ser1168Ile)
 gnomAD v4
2g.120989217C>ACA348173329GLI2c.3252C>A (p.Ser1084Arg)
c.3303C>A (p.Ser1101Arg)
c.*2351C>A (n.*2351C>A)
c.*2402C>A (n.*2402C>A)
c.3285C>A (p.Ser1095Arg)
c.3162C>A (p.Ser1054Arg)
c.3108C>A (p.Ser1036Arg)
c.2928C>A (p.Ser976Arg)
c.2877C>A (p.Ser959Arg)
c.3555C>A (p.Ser1185Arg)
c.3204C>A (p.Ser1068Arg)
c.3504C>A (p.Ser1168Arg)
2g.120989217C>GCA348173330GLI2c.3252C>G (p.Ser1084Arg)
c.3303C>G (p.Ser1101Arg)
c.*2351C>G (n.*2351C>G)
c.*2402C>G (n.*2402C>G)
c.3285C>G (p.Ser1095Arg)
c.3162C>G (p.Ser1054Arg)
c.3108C>G (p.Ser1036Arg)
c.2928C>G (p.Ser976Arg)
c.2877C>G (p.Ser959Arg)
c.3555C>G (p.Ser1185Arg)
c.3204C>G (p.Ser1068Arg)
c.3504C>G (p.Ser1168Arg)
2g.120989217C>TCA428749828GLI2c.3252C>T (p.Ser1084=)
c.3303C>T (p.Ser1101=)
c.*2351C>T (n.*2351C>T)
c.*2402C>T (n.*2402C>T)
c.3285C>T (p.Ser1095=)
c.3162C>T (p.Ser1054=)
c.3108C>T (p.Ser1036=)
c.2928C>T (p.Ser976=)
c.2877C>T (p.Ser959=)
c.3555C>T (p.Ser1185=)
c.3204C>T (p.Ser1068=)
c.3504C>T (p.Ser1168=)
2g.120989219delCA2604061397GLI2c.3254del (p.Pro1085ArgfsTer28)
c.3305del (p.Pro1102ArgfsTer28)
c.*2353del (n.*2353del)
c.*2404del (n.*2404del)
c.3287del (p.Pro1096ArgfsTer28)
c.3164del (p.Pro1055ArgfsTer28)
c.3110del (p.Pro1037ArgfsTer28)
c.2930del (p.Pro977ArgfsTer28)
c.2879del (p.Pro960ArgfsTer28)
c.3557del (p.Pro1186ArgfsTer28)
c.3206del (p.Pro1069ArgfsTer28)
c.3506del (p.Pro1169ArgfsTer28)
 dbSNP gnomAD v3 gnomAD v4
2g.120989218C>ACA348173331GLI2c.3253C>A (p.Pro1085Thr)
c.3304C>A (p.Pro1102Thr)
c.*2352C>A (n.*2352C>A)
c.*2403C>A (n.*2403C>A)
c.3286C>A (p.Pro1096Thr)
c.3163C>A (p.Pro1055Thr)
c.3109C>A (p.Pro1037Thr)
c.2929C>A (p.Pro977Thr)
c.2878C>A (p.Pro960Thr)
c.3556C>A (p.Pro1186Thr)
c.3205C>A (p.Pro1069Thr)
c.3505C>A (p.Pro1169Thr)
 gnomAD v4
2g.120989218C>GCA348173332GLI2c.3253C>G (p.Pro1085Ala)
c.3304C>G (p.Pro1102Ala)
c.*2352C>G (n.*2352C>G)
c.*2403C>G (n.*2403C>G)
c.3286C>G (p.Pro1096Ala)
c.3163C>G (p.Pro1055Ala)
c.3109C>G (p.Pro1037Ala)
c.2929C>G (p.Pro977Ala)
c.2878C>G (p.Pro960Ala)
c.3556C>G (p.Pro1186Ala)
c.3205C>G (p.Pro1069Ala)
c.3505C>G (p.Pro1169Ala)
2g.120989218C>TCA348173335GLI2c.3253C>T (p.Pro1085Ser)
c.3304C>T (p.Pro1102Ser)
c.*2352C>T (n.*2352C>T)
c.*2403C>T (n.*2403C>T)
c.3286C>T (p.Pro1096Ser)
c.3163C>T (p.Pro1055Ser)
c.3109C>T (p.Pro1037Ser)
c.2929C>T (p.Pro977Ser)
c.2878C>T (p.Pro960Ser)
c.3556C>T (p.Pro1186Ser)
c.3205C>T (p.Pro1069Ser)
c.3505C>T (p.Pro1169Ser)
2g.120989219C>ACA348173338GLI2c.3254C>A (p.Pro1085Gln)
c.3305C>A (p.Pro1102Gln)
c.*2353C>A (n.*2353C>A)
c.*2404C>A (n.*2404C>A)
c.3287C>A (p.Pro1096Gln)
c.3164C>A (p.Pro1055Gln)
c.3110C>A (p.Pro1037Gln)
c.2930C>A (p.Pro977Gln)
c.2879C>A (p.Pro960Gln)
c.3557C>A (p.Pro1186Gln)
c.3206C>A (p.Pro1069Gln)
c.3506C>A (p.Pro1169Gln)
 gnomAD v4
2g.120989219C=CA1283795528GLI2c.3254C= (p.Pro1085=)
c.3305C= (p.Pro1102=)
c.*2353C= (n.*2353C=)
c.*2404C= (n.*2404C=)
c.3287C= (p.Pro1096=)
c.3164C= (p.Pro1055=)
c.3110C= (p.Pro1037=)
c.2930C= (p.Pro977=)
c.2879C= (p.Pro960=)
c.3557C= (p.Pro1186=)
c.3206C= (p.Pro1069=)
c.3506C= (p.Pro1169=)
2g.120989219C>GCA1852355GLI2c.3254C>G (p.Pro1085Arg)
c.3305C>G (p.Pro1102Arg)
c.*2353C>G (n.*2353C>G)
c.*2404C>G (n.*2404C>G)
c.3287C>G (p.Pro1096Arg)
c.3164C>G (p.Pro1055Arg)
c.3110C>G (p.Pro1037Arg)
c.2930C>G (p.Pro977Arg)
c.2879C>G (p.Pro960Arg)
c.3557C>G (p.Pro1186Arg)
c.3206C>G (p.Pro1069Arg)
c.3506C>G (p.Pro1169Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.120989219C>TCA348173341GLI2c.3254C>T (p.Pro1085Leu)
c.3305C>T (p.Pro1102Leu)
c.*2353C>T (n.*2353C>T)
c.*2404C>T (n.*2404C>T)
c.3287C>T (p.Pro1096Leu)
c.3164C>T (p.Pro1055Leu)
c.3110C>T (p.Pro1037Leu)
c.2930C>T (p.Pro977Leu)
c.2879C>T (p.Pro960Leu)
c.3557C>T (p.Pro1186Leu)
c.3206C>T (p.Pro1069Leu)
c.3506C>T (p.Pro1169Leu)
 ClinVar gnomAD v4 COSMIC
2g.120989220G>ACA1852356GLI2c.3255G>A (p.Pro1085=)
c.3306G>A (p.Pro1102=)
c.*2354G>A (n.*2354G>A)
c.*2405G>A (n.*2405G>A)
c.3288G>A (p.Pro1096=)
c.3165G>A (p.Pro1055=)
c.3111G>A (p.Pro1037=)
c.2931G>A (p.Pro977=)
c.2880G>A (p.Pro960=)
c.3558G>A (p.Pro1186=)
c.3207G>A (p.Pro1069=)
c.3507G>A (p.Pro1169=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989220G>CCA428749830GLI2c.3255G>C (p.Pro1085=)
c.3306G>C (p.Pro1102=)
c.*2354G>C (n.*2354G>C)
c.*2405G>C (n.*2405G>C)
c.3288G>C (p.Pro1096=)
c.3165G>C (p.Pro1055=)
c.3111G>C (p.Pro1037=)
c.2931G>C (p.Pro977=)
c.2880G>C (p.Pro960=)
c.3558G>C (p.Pro1186=)
c.3207G>C (p.Pro1069=)
c.3507G>C (p.Pro1169=)
2g.120989220G=CA1283795529GLI2c.3255G= (p.Pro1085=)
c.3306G= (p.Pro1102=)
c.*2354G= (n.*2354G=)
c.*2405G= (n.*2405G=)
c.3288G= (p.Pro1096=)
c.3165G= (p.Pro1055=)
c.3111G= (p.Pro1037=)
c.2931G= (p.Pro977=)
c.2880G= (p.Pro960=)
c.3558G= (p.Pro1186=)
c.3207G= (p.Pro1069=)
c.3507G= (p.Pro1169=)
2g.120989220G>TCA428749829GLI2c.3255G>T (p.Pro1085=)
c.3306G>T (p.Pro1102=)
c.*2354G>T (n.*2354G>T)
c.*2405G>T (n.*2405G>T)
c.3288G>T (p.Pro1096=)
c.3165G>T (p.Pro1055=)
c.3111G>T (p.Pro1037=)
c.2931G>T (p.Pro977=)
c.2880G>T (p.Pro960=)
c.3558G>T (p.Pro1186=)
c.3207G>T (p.Pro1069=)
c.3507G>T (p.Pro1169=)
2g.120989221G>ACA54384128GLI2c.3256G>A (p.Gly1086Arg)
c.3307G>A (p.Gly1103Arg)
c.*2355G>A (n.*2355G>A)
c.*2406G>A (n.*2406G>A)
c.3289G>A (p.Gly1097Arg)
c.3166G>A (p.Gly1056Arg)
c.3112G>A (p.Gly1038Arg)
c.2932G>A (p.Gly978Arg)
c.2881G>A (p.Gly961Arg)
c.3559G>A (p.Gly1187Arg)
c.3208G>A (p.Gly1070Arg)
c.3508G>A (p.Gly1170Arg)
 dbSNP
2g.120989221G>CCA348173345GLI2c.3256G>C (p.Gly1086Arg)
c.3307G>C (p.Gly1103Arg)
c.*2355G>C (n.*2355G>C)
c.*2406G>C (n.*2406G>C)
c.3289G>C (p.Gly1097Arg)
c.3166G>C (p.Gly1056Arg)
c.3112G>C (p.Gly1038Arg)
c.2932G>C (p.Gly978Arg)
c.2881G>C (p.Gly961Arg)
c.3559G>C (p.Gly1187Arg)
c.3208G>C (p.Gly1070Arg)
c.3508G>C (p.Gly1170Arg)
2g.120989221G=CA1283795530GLI2c.3256G= (p.Gly1086=)
c.3307G= (p.Gly1103=)
c.*2355G= (n.*2355G=)
c.*2406G= (n.*2406G=)
c.3289G= (p.Gly1097=)
c.3166G= (p.Gly1056=)
c.3112G= (p.Gly1038=)
c.2932G= (p.Gly978=)
c.2881G= (p.Gly961=)
c.3559G= (p.Gly1187=)
c.3208G= (p.Gly1070=)
c.3508G= (p.Gly1170=)
2g.120989221G>TCA348173348GLI2c.3256G>T (p.Gly1086Trp)
c.3307G>T (p.Gly1103Trp)
c.*2355G>T (n.*2355G>T)
c.*2406G>T (n.*2406G>T)
c.3289G>T (p.Gly1097Trp)
c.3166G>T (p.Gly1056Trp)
c.3112G>T (p.Gly1038Trp)
c.2932G>T (p.Gly978Trp)
c.2881G>T (p.Gly961Trp)
c.3559G>T (p.Gly1187Trp)
c.3208G>T (p.Gly1070Trp)
c.3508G>T (p.Gly1170Trp)
2g.120989222G>ACA348173351GLI2c.3257G>A (p.Gly1086Glu)
c.3308G>A (p.Gly1103Glu)
c.*2356G>A (n.*2356G>A)
c.*2407G>A (n.*2407G>A)
c.3290G>A (p.Gly1097Glu)
c.3167G>A (p.Gly1056Glu)
c.3113G>A (p.Gly1038Glu)
c.2933G>A (p.Gly978Glu)
c.2882G>A (p.Gly961Glu)
c.3560G>A (p.Gly1187Glu)
c.3209G>A (p.Gly1070Glu)
c.3509G>A (p.Gly1170Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.120989222G>CCA348173356GLI2c.3257G>C (p.Gly1086Ala)
c.3308G>C (p.Gly1103Ala)
c.*2356G>C (n.*2356G>C)
c.*2407G>C (n.*2407G>C)
c.3290G>C (p.Gly1097Ala)
c.3167G>C (p.Gly1056Ala)
c.3113G>C (p.Gly1038Ala)
c.2933G>C (p.Gly978Ala)
c.2882G>C (p.Gly961Ala)
c.3560G>C (p.Gly1187Ala)
c.3209G>C (p.Gly1070Ala)
c.3509G>C (p.Gly1170Ala)
2g.120989222G=CA1283795531GLI2c.3257G= (p.Gly1086=)
c.3308G= (p.Gly1103=)
c.*2356G= (n.*2356G=)
c.*2407G= (n.*2407G=)
c.3290G= (p.Gly1097=)
c.3167G= (p.Gly1056=)
c.3113G= (p.Gly1038=)
c.2933G= (p.Gly978=)
c.2882G= (p.Gly961=)
c.3560G= (p.Gly1187=)
c.3209G= (p.Gly1070=)
c.3509G= (p.Gly1170=)
2g.120989222G>TCA1852357GLI2c.3257G>T (p.Gly1086Val)
c.3308G>T (p.Gly1103Val)
c.*2356G>T (n.*2356G>T)
c.*2407G>T (n.*2407G>T)
c.3290G>T (p.Gly1097Val)
c.3167G>T (p.Gly1056Val)
c.3113G>T (p.Gly1038Val)
c.2933G>T (p.Gly978Val)
c.2882G>T (p.Gly961Val)
c.3560G>T (p.Gly1187Val)
c.3209G>T (p.Gly1070Val)
c.3509G>T (p.Gly1170Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989223G>ACA428749831GLI2c.3258G>A (p.Gly1086=)
c.3309G>A (p.Gly1103=)
c.*2357G>A (n.*2357G>A)
c.*2408G>A (n.*2408G>A)
c.3291G>A (p.Gly1097=)
c.3168G>A (p.Gly1056=)
c.3114G>A (p.Gly1038=)
c.2934G>A (p.Gly978=)
c.2883G>A (p.Gly961=)
c.3561G>A (p.Gly1187=)
c.3210G>A (p.Gly1070=)
c.3510G>A (p.Gly1170=)
2g.120989223G>CCA428749832GLI2c.3258G>C (p.Gly1086=)
c.3309G>C (p.Gly1103=)
c.*2357G>C (n.*2357G>C)
c.*2408G>C (n.*2408G>C)
c.3291G>C (p.Gly1097=)
c.3168G>C (p.Gly1056=)
c.3114G>C (p.Gly1038=)
c.2934G>C (p.Gly978=)
c.2883G>C (p.Gly961=)
c.3561G>C (p.Gly1187=)
c.3210G>C (p.Gly1070=)
c.3510G>C (p.Gly1170=)
 dbSNP
2g.120989223G=CA1283795532GLI2c.3258G= (p.Gly1086=)
c.3309G= (p.Gly1103=)
c.*2357G= (n.*2357G=)
c.*2408G= (n.*2408G=)
c.3291G= (p.Gly1097=)
c.3168G= (p.Gly1056=)
c.3114G= (p.Gly1038=)
c.2934G= (p.Gly978=)
c.2883G= (p.Gly961=)
c.3561G= (p.Gly1187=)
c.3210G= (p.Gly1070=)
c.3510G= (p.Gly1170=)
2g.120989223G>TCA428749833GLI2c.3258G>T (p.Gly1086=)
c.3309G>T (p.Gly1103=)
c.*2357G>T (n.*2357G>T)
c.*2408G>T (n.*2408G>T)
c.3291G>T (p.Gly1097=)
c.3168G>T (p.Gly1056=)
c.3114G>T (p.Gly1038=)
c.2934G>T (p.Gly978=)
c.2883G>T (p.Gly961=)
c.3561G>T (p.Gly1187=)
c.3210G>T (p.Gly1070=)
c.3510G>T (p.Gly1170=)
2g.120989224C>ACA348173359GLI2c.3259C>A (p.Leu1087Met)
c.3310C>A (p.Leu1104Met)
c.*2358C>A (n.*2358C>A)
c.*2409C>A (n.*2409C>A)
c.3292C>A (p.Leu1098Met)
c.3169C>A (p.Leu1057Met)
c.3115C>A (p.Leu1039Met)
c.2935C>A (p.Leu979Met)
c.2884C>A (p.Leu962Met)
c.3562C>A (p.Leu1188Met)
c.3211C>A (p.Leu1071Met)
c.3511C>A (p.Leu1171Met)
2g.120989224C=CA1283795533GLI2c.3259C= (p.Leu1087=)
c.3310C= (p.Leu1104=)
c.*2358C= (n.*2358C=)
c.*2409C= (n.*2409C=)
c.3292C= (p.Leu1098=)
c.3169C= (p.Leu1057=)
c.3115C= (p.Leu1039=)
c.2935C= (p.Leu979=)
c.2884C= (p.Leu962=)
c.3562C= (p.Leu1188=)
c.3211C= (p.Leu1071=)
c.3511C= (p.Leu1171=)
2g.120989224C>GCA348173360GLI2c.3259C>G (p.Leu1087Val)
c.3310C>G (p.Leu1104Val)
c.*2358C>G (n.*2358C>G)
c.*2409C>G (n.*2409C>G)
c.3292C>G (p.Leu1098Val)
c.3169C>G (p.Leu1057Val)
c.3115C>G (p.Leu1039Val)
c.2935C>G (p.Leu979Val)
c.2884C>G (p.Leu962Val)
c.3562C>G (p.Leu1188Val)
c.3211C>G (p.Leu1071Val)
c.3511C>G (p.Leu1171Val)
2g.120989224C>TCA1852358GLI2c.3259C>T (p.Leu1087=)
c.3310C>T (p.Leu1104=)
c.*2358C>T (n.*2358C>T)
c.*2409C>T (n.*2409C>T)
c.3292C>T (p.Leu1098=)
c.3169C>T (p.Leu1057=)
c.3115C>T (p.Leu1039=)
c.2935C>T (p.Leu979=)
c.2884C>T (p.Leu962=)
c.3562C>T (p.Leu1188=)
c.3211C>T (p.Leu1071=)
c.3511C>T (p.Leu1171=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989225T>ACA348173362GLI2c.3260T>A (p.Leu1087Gln)
c.3311T>A (p.Leu1104Gln)
c.*2359T>A (n.*2359T>A)
c.*2410T>A (n.*2410T>A)
c.3293T>A (p.Leu1098Gln)
c.3170T>A (p.Leu1057Gln)
c.3116T>A (p.Leu1039Gln)
c.2936T>A (p.Leu979Gln)
c.2885T>A (p.Leu962Gln)
c.3563T>A (p.Leu1188Gln)
c.3212T>A (p.Leu1071Gln)
c.3512T>A (p.Leu1171Gln)
2g.120989225T>CCA348173364GLI2c.3260T>C (p.Leu1087Pro)
c.3311T>C (p.Leu1104Pro)
c.*2359T>C (n.*2359T>C)
c.*2410T>C (n.*2410T>C)
c.3293T>C (p.Leu1098Pro)
c.3170T>C (p.Leu1057Pro)
c.3116T>C (p.Leu1039Pro)
c.2936T>C (p.Leu979Pro)
c.2885T>C (p.Leu962Pro)
c.3563T>C (p.Leu1188Pro)
c.3212T>C (p.Leu1071Pro)
c.3512T>C (p.Leu1171Pro)
2g.120989225T>GCA348173365GLI2c.3260T>G (p.Leu1087Arg)
c.3311T>G (p.Leu1104Arg)
c.*2359T>G (n.*2359T>G)
c.*2410T>G (n.*2410T>G)
c.3293T>G (p.Leu1098Arg)
c.3170T>G (p.Leu1057Arg)
c.3116T>G (p.Leu1039Arg)
c.2936T>G (p.Leu979Arg)
c.2885T>G (p.Leu962Arg)
c.3563T>G (p.Leu1188Arg)
c.3212T>G (p.Leu1071Arg)
c.3512T>G (p.Leu1171Arg)
2g.120989226G>ACA428749834GLI2c.3261G>A (p.Leu1087=)
c.3312G>A (p.Leu1104=)
c.*2360G>A (n.*2360G>A)
c.*2411G>A (n.*2411G>A)
c.3294G>A (p.Leu1098=)
c.3171G>A (p.Leu1057=)
c.3117G>A (p.Leu1039=)
c.2937G>A (p.Leu979=)
c.2886G>A (p.Leu962=)
c.3564G>A (p.Leu1188=)
c.3213G>A (p.Leu1071=)
c.3513G>A (p.Leu1171=)
2g.120989226G>CCA428749835GLI2c.3261G>C (p.Leu1087=)
c.3312G>C (p.Leu1104=)
c.*2360G>C (n.*2360G>C)
c.*2411G>C (n.*2411G>C)
c.3294G>C (p.Leu1098=)
c.3171G>C (p.Leu1057=)
c.3117G>C (p.Leu1039=)
c.2937G>C (p.Leu979=)
c.2886G>C (p.Leu962=)
c.3564G>C (p.Leu1188=)
c.3213G>C (p.Leu1071=)
c.3513G>C (p.Leu1171=)
2g.120989226G=CA1283795534GLI2c.3261G= (p.Leu1087=)
c.3312G= (p.Leu1104=)
c.*2360G= (n.*2360G=)
c.*2411G= (n.*2411G=)
c.3294G= (p.Leu1098=)
c.3171G= (p.Leu1057=)
c.3117G= (p.Leu1039=)
c.2937G= (p.Leu979=)
c.2886G= (p.Leu962=)
c.3564G= (p.Leu1188=)
c.3213G= (p.Leu1071=)
c.3513G= (p.Leu1171=)
2g.120989226G>TCA54384133GLI2c.3261G>T (p.Leu1087=)
c.3312G>T (p.Leu1104=)
c.*2360G>T (n.*2360G>T)
c.*2411G>T (n.*2411G>T)
c.3294G>T (p.Leu1098=)
c.3171G>T (p.Leu1057=)
c.3117G>T (p.Leu1039=)
c.2937G>T (p.Leu979=)
c.2886G>T (p.Leu962=)
c.3564G>T (p.Leu1188=)
c.3213G>T (p.Leu1071=)
c.3513G>T (p.Leu1171=)
 dbSNP
2g.120989227C>ACA348173371GLI2c.3262C>A (p.His1088Asn)
c.3313C>A (p.His1105Asn)
c.*2361C>A (n.*2361C>A)
c.*2412C>A (n.*2412C>A)
c.3295C>A (p.His1099Asn)
c.3172C>A (p.His1058Asn)
c.3118C>A (p.His1040Asn)
c.2938C>A (p.His980Asn)
c.2887C>A (p.His963Asn)
c.3565C>A (p.His1189Asn)
c.3214C>A (p.His1072Asn)
c.3514C>A (p.His1172Asn)
 COSMIC
2g.120989227C=CA1283795535GLI2c.3262C= (p.His1088=)
c.3313C= (p.His1105=)
c.*2361C= (n.*2361C=)
c.*2412C= (n.*2412C=)
c.3295C= (p.His1099=)
c.3172C= (p.His1058=)
c.3118C= (p.His1040=)
c.2938C= (p.His980=)
c.2887C= (p.His963=)
c.3565C= (p.His1189=)
c.3214C= (p.His1072=)
c.3514C= (p.His1172=)
2g.120989227C>GCA348173367GLI2c.3262C>G (p.His1088Asp)
c.3313C>G (p.His1105Asp)
c.*2361C>G (n.*2361C>G)
c.*2412C>G (n.*2412C>G)
c.3295C>G (p.His1099Asp)
c.3172C>G (p.His1058Asp)
c.3118C>G (p.His1040Asp)
c.2938C>G (p.His980Asp)
c.2887C>G (p.His963Asp)
c.3565C>G (p.His1189Asp)
c.3214C>G (p.His1072Asp)
c.3514C>G (p.His1172Asp)
2g.120989227C>TCA54384148GLI2c.3262C>T (p.His1088Tyr)
c.3313C>T (p.His1105Tyr)
c.*2361C>T (n.*2361C>T)
c.*2412C>T (n.*2412C>T)
c.3295C>T (p.His1099Tyr)
c.3172C>T (p.His1058Tyr)
c.3118C>T (p.His1040Tyr)
c.2938C>T (p.His980Tyr)
c.2887C>T (p.His963Tyr)
c.3565C>T (p.His1189Tyr)
c.3214C>T (p.His1072Tyr)
c.3514C>T (p.His1172Tyr)
 dbSNP gnomAD v4
2g.120989228A=CA1283795536GLI2c.3263A= (p.His1088=)
c.3314A= (p.His1105=)
c.*2362A= (n.*2362A=)
c.*2413A= (n.*2413A=)
c.3296A= (p.His1099=)
c.3173A= (p.His1058=)
c.3119A= (p.His1040=)
c.2939A= (p.His980=)
c.2888A= (p.His963=)
c.3566A= (p.His1189=)
c.3215A= (p.His1072=)
c.3515A= (p.His1172=)
2g.120989228A>CCA54384154GLI2c.3263A>C (p.His1088Pro)
c.3314A>C (p.His1105Pro)
c.*2362A>C (n.*2362A>C)
c.*2413A>C (n.*2413A>C)
c.3296A>C (p.His1099Pro)
c.3173A>C (p.His1058Pro)
c.3119A>C (p.His1040Pro)
c.2939A>C (p.His980Pro)
c.2888A>C (p.His963Pro)
c.3566A>C (p.His1189Pro)
c.3215A>C (p.His1072Pro)
c.3515A>C (p.His1172Pro)
 dbSNP
2g.120989228A>GCA348173374GLI2c.3263A>G (p.His1088Arg)
c.3314A>G (p.His1105Arg)
c.*2362A>G (n.*2362A>G)
c.*2413A>G (n.*2413A>G)
c.3296A>G (p.His1099Arg)
c.3173A>G (p.His1058Arg)
c.3119A>G (p.His1040Arg)
c.2939A>G (p.His980Arg)
c.2888A>G (p.His963Arg)
c.3566A>G (p.His1189Arg)
c.3215A>G (p.His1072Arg)
c.3515A>G (p.His1172Arg)
2g.120989228A>TCA348173375GLI2c.3263A>T (p.His1088Leu)
c.3314A>T (p.His1105Leu)
c.*2362A>T (n.*2362A>T)
c.*2413A>T (n.*2413A>T)
c.3296A>T (p.His1099Leu)
c.3173A>T (p.His1058Leu)
c.3119A>T (p.His1040Leu)
c.2939A>T (p.His980Leu)
c.2888A>T (p.His963Leu)
c.3566A>T (p.His1189Leu)
c.3215A>T (p.His1072Leu)
c.3515A>T (p.His1172Leu)
2g.120989229C>ACA348173378GLI2c.3264C>A (p.His1088Gln)
c.3315C>A (p.His1105Gln)
c.*2363C>A (n.*2363C>A)
c.*2414C>A (n.*2414C>A)
c.3297C>A (p.His1099Gln)
c.3174C>A (p.His1058Gln)
c.3120C>A (p.His1040Gln)
c.2940C>A (p.His980Gln)
c.2889C>A (p.His963Gln)
c.3567C>A (p.His1189Gln)
c.3216C>A (p.His1072Gln)
c.3516C>A (p.His1172Gln)
2g.120989229C=CA1283795537GLI2c.3264C= (p.His1088=)
c.3315C= (p.His1105=)
c.*2363C= (n.*2363C=)
c.*2414C= (n.*2414C=)
c.3297C= (p.His1099=)
c.3174C= (p.His1058=)
c.3120C= (p.His1040=)
c.2940C= (p.His980=)
c.2889C= (p.His963=)
c.3567C= (p.His1189=)
c.3216C= (p.His1072=)
c.3516C= (p.His1172=)
2g.120989229C>GCA348173381GLI2c.3264C>G (p.His1088Gln)
c.3315C>G (p.His1105Gln)
c.*2363C>G (n.*2363C>G)
c.*2414C>G (n.*2414C>G)
c.3297C>G (p.His1099Gln)
c.3174C>G (p.His1058Gln)
c.3120C>G (p.His1040Gln)
c.2940C>G (p.His980Gln)
c.2889C>G (p.His963Gln)
c.3567C>G (p.His1189Gln)
c.3216C>G (p.His1072Gln)
c.3516C>G (p.His1172Gln)
2g.120989229C>TCA428749837GLI2c.3264C>T (p.His1088=)
c.3315C>T (p.His1105=)
c.*2363C>T (n.*2363C>T)
c.*2414C>T (n.*2414C>T)
c.3297C>T (p.His1099=)
c.3174C>T (p.His1058=)
c.3120C>T (p.His1040=)
c.2940C>T (p.His980=)
c.2889C>T (p.His963=)
c.3567C>T (p.His1189=)
c.3216C>T (p.His1072=)
c.3516C>T (p.His1172=)
 dbSNP gnomAD v2 gnomAD v4
2g.120989230G>ACA348173383GLI2c.3265G>A (p.Gly1089Ser)
c.3316G>A (p.Gly1106Ser)
c.*2364G>A (n.*2364G>A)
c.*2415G>A (n.*2415G>A)
c.3298G>A (p.Gly1100Ser)
c.3175G>A (p.Gly1059Ser)
c.3121G>A (p.Gly1041Ser)
c.2941G>A (p.Gly981Ser)
c.2890G>A (p.Gly964Ser)
c.3568G>A (p.Gly1190Ser)
c.3217G>A (p.Gly1073Ser)
c.3517G>A (p.Gly1173Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.120989230G>CCA348173385GLI2c.3265G>C (p.Gly1089Arg)
c.3316G>C (p.Gly1106Arg)
c.*2364G>C (n.*2364G>C)
c.*2415G>C (n.*2415G>C)
c.3298G>C (p.Gly1100Arg)
c.3175G>C (p.Gly1059Arg)
c.3121G>C (p.Gly1041Arg)
c.2941G>C (p.Gly981Arg)
c.2890G>C (p.Gly964Arg)
c.3568G>C (p.Gly1190Arg)
c.3217G>C (p.Gly1073Arg)
c.3517G>C (p.Gly1173Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.120989230G=CA1283795538GLI2c.3265G= (p.Gly1089=)
c.3316G= (p.Gly1106=)
c.*2364G= (n.*2364G=)
c.*2415G= (n.*2415G=)
c.3298G= (p.Gly1100=)
c.3175G= (p.Gly1059=)
c.3121G= (p.Gly1041=)
c.2941G= (p.Gly981=)
c.2890G= (p.Gly964=)
c.3568G= (p.Gly1190=)
c.3217G= (p.Gly1073=)
c.3517G= (p.Gly1173=)
2g.120989230G>TCA348173388GLI2c.3265G>T (p.Gly1089Cys)
c.3316G>T (p.Gly1106Cys)
c.*2364G>T (n.*2364G>T)
c.*2415G>T (n.*2415G>T)
c.3298G>T (p.Gly1100Cys)
c.3175G>T (p.Gly1059Cys)
c.3121G>T (p.Gly1041Cys)
c.2941G>T (p.Gly981Cys)
c.2890G>T (p.Gly964Cys)
c.3568G>T (p.Gly1190Cys)
c.3217G>T (p.Gly1073Cys)
c.3517G>T (p.Gly1173Cys)
2g.120989231G>ACA1852360GLI2c.3266G>A (p.Gly1089Asp)
c.3317G>A (p.Gly1106Asp)
c.*2365G>A (n.*2365G>A)
c.*2416G>A (n.*2416G>A)
c.3299G>A (p.Gly1100Asp)
c.3176G>A (p.Gly1059Asp)
c.3122G>A (p.Gly1041Asp)
c.2942G>A (p.Gly981Asp)
c.2891G>A (p.Gly964Asp)
c.3569G>A (p.Gly1190Asp)
c.3218G>A (p.Gly1073Asp)
c.3518G>A (p.Gly1173Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989231G>CCA348173391GLI2c.3266G>C (p.Gly1089Ala)
c.3317G>C (p.Gly1106Ala)
c.*2365G>C (n.*2365G>C)
c.*2416G>C (n.*2416G>C)
c.3299G>C (p.Gly1100Ala)
c.3176G>C (p.Gly1059Ala)
c.3122G>C (p.Gly1041Ala)
c.2942G>C (p.Gly981Ala)
c.2891G>C (p.Gly964Ala)
c.3569G>C (p.Gly1190Ala)
c.3218G>C (p.Gly1073Ala)
c.3518G>C (p.Gly1173Ala)
2g.120989231G=CA1283795539GLI2c.3266G= (p.Gly1089=)
c.3317G= (p.Gly1106=)
c.*2365G= (n.*2365G=)
c.*2416G= (n.*2416G=)
c.3299G= (p.Gly1100=)
c.3176G= (p.Gly1059=)
c.3122G= (p.Gly1041=)
c.2942G= (p.Gly981=)
c.2891G= (p.Gly964=)
c.3569G= (p.Gly1190=)
c.3218G= (p.Gly1073=)
c.3518G= (p.Gly1173=)
2g.120989231G>TCA1852359GLI2c.3266G>T (p.Gly1089Val)
c.3317G>T (p.Gly1106Val)
c.*2365G>T (n.*2365G>T)
c.*2416G>T (n.*2416G>T)
c.3299G>T (p.Gly1100Val)
c.3176G>T (p.Gly1059Val)
c.3122G>T (p.Gly1041Val)
c.2942G>T (p.Gly981Val)
c.2891G>T (p.Gly964Val)
c.3569G>T (p.Gly1190Val)
c.3218G>T (p.Gly1073Val)
c.3518G>T (p.Gly1173Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.120989232C>ACA428749838GLI2c.3267C>A (p.Gly1089=)
c.3318C>A (p.Gly1106=)
c.*2366C>A (n.*2366C>A)
c.*2417C>A (n.*2417C>A)
c.3300C>A (p.Gly1100=)
c.3177C>A (p.Gly1059=)
c.3123C>A (p.Gly1041=)
c.2943C>A (p.Gly981=)
c.2892C>A (p.Gly964=)
c.3570C>A (p.Gly1190=)
c.3219C>A (p.Gly1073=)
c.3519C>A (p.Gly1173=)
2g.120989232C=CA1283795540GLI2c.3267C= (p.Gly1089=)
c.3318C= (p.Gly1106=)
c.*2366C= (n.*2366C=)
c.*2417C= (n.*2417C=)
c.3300C= (p.Gly1100=)
c.3177C= (p.Gly1059=)
c.3123C= (p.Gly1041=)
c.2943C= (p.Gly981=)
c.2892C= (p.Gly964=)
c.3570C= (p.Gly1190=)
c.3219C= (p.Gly1073=)
c.3519C= (p.Gly1173=)
2g.120989232C>GCA428749839GLI2c.3267C>G (p.Gly1089=)
c.3318C>G (p.Gly1106=)
c.*2366C>G (n.*2366C>G)
c.*2417C>G (n.*2417C>G)
c.3300C>G (p.Gly1100=)
c.3177C>G (p.Gly1059=)
c.3123C>G (p.Gly1041=)
c.2943C>G (p.Gly981=)
c.2892C>G (p.Gly964=)
c.3570C>G (p.Gly1190=)
c.3219C>G (p.Gly1073=)
c.3519C>G (p.Gly1173=)
2g.120989232C>TCA1852361GLI2c.3267C>T (p.Gly1089=)
c.3318C>T (p.Gly1106=)
c.*2366C>T (n.*2366C>T)
c.*2417C>T (n.*2417C>T)
c.3300C>T (p.Gly1100=)
c.3177C>T (p.Gly1059=)
c.3123C>T (p.Gly1041=)
c.2943C>T (p.Gly981=)
c.2892C>T (p.Gly964=)
c.3570C>T (p.Gly1190=)
c.3219C>T (p.Gly1073=)
c.3519C>T (p.Gly1173=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.120989233C>ACA348173395GLI2c.3268C>A (p.Gln1090Lys)
c.3319C>A (p.Gln1107Lys)
c.*2367C>A (n.*2367C>A)
c.*2418C>A (n.*2418C>A)
c.3301C>A (p.Gln1101Lys)
c.3178C>A (p.Gln1060Lys)
c.3124C>A (p.Gln1042Lys)
c.2944C>A (p.Gln982Lys)
c.2893C>A (p.Gln965Lys)
c.3571C>A (p.Gln1191Lys)
c.3220C>A (p.Gln1074Lys)
c.3520C>A (p.Gln1174Lys)
2g.120989233C>GCA348173399GLI2c.3268C>G (p.Gln1090Glu)
c.3319C>G (p.Gln1107Glu)
c.*2367C>G (n.*2367C>G)
c.*2418C>G (n.*2418C>G)
c.3301C>G (p.Gln1101Glu)
c.3178C>G (p.Gln1060Glu)
c.3124C>G (p.Gln1042Glu)
c.2944C>G (p.Gln982Glu)
c.2893C>G (p.Gln965Glu)
c.3571C>G (p.Gln1191Glu)
c.3220C>G (p.Gln1074Glu)
c.3520C>G (p.Gln1174Glu)
2g.120989233C>TCA348173397GLI2c.3268C>T (p.Gln1090Ter)
c.3319C>T (p.Gln1107Ter)
c.*2367C>T (n.*2367C>T)
c.*2418C>T (n.*2418C>T)
c.3301C>T (p.Gln1101Ter)
c.3178C>T (p.Gln1060Ter)
c.3124C>T (p.Gln1042Ter)
c.2944C>T (p.Gln982Ter)
c.2893C>T (p.Gln965Ter)
c.3571C>T (p.Gln1191Ter)
c.3220C>T (p.Gln1074Ter)
c.3520C>T (p.Gln1174Ter)
2g.120989234A>CCA348173403GLI2c.3269A>C (p.Gln1090Pro)
c.3320A>C (p.Gln1107Pro)
c.*2368A>C (n.*2368A>C)
c.*2419A>C (n.*2419A>C)
c.3302A>C (p.Gln1101Pro)
c.3179A>C (p.Gln1060Pro)
c.3125A>C (p.Gln1042Pro)
c.2945A>C (p.Gln982Pro)
c.2894A>C (p.Gln965Pro)
c.3572A>C (p.Gln1191Pro)
c.3221A>C (p.Gln1074Pro)
c.3521A>C (p.Gln1174Pro)
2g.120989234A>GCA348173408GLI2c.3269A>G (p.Gln1090Arg)
c.3320A>G (p.Gln1107Arg)
c.*2368A>G (n.*2368A>G)
c.*2419A>G (n.*2419A>G)
c.3302A>G (p.Gln1101Arg)
c.3179A>G (p.Gln1060Arg)
c.3125A>G (p.Gln1042Arg)
c.2945A>G (p.Gln982Arg)
c.2894A>G (p.Gln965Arg)
c.3572A>G (p.Gln1191Arg)
c.3221A>G (p.Gln1074Arg)
c.3521A>G (p.Gln1174Arg)
2g.120989234A>TCA348173405GLI2c.3269A>T (p.Gln1090Leu)
c.3320A>T (p.Gln1107Leu)
c.*2368A>T (n.*2368A>T)
c.*2419A>T (n.*2419A>T)
c.3302A>T (p.Gln1101Leu)
c.3179A>T (p.Gln1060Leu)
c.3125A>T (p.Gln1042Leu)
c.2945A>T (p.Gln982Leu)
c.2894A>T (p.Gln965Leu)
c.3572A>T (p.Gln1191Leu)
c.3221A>T (p.Gln1074Leu)
c.3521A>T (p.Gln1174Leu)
2g.120989235G>ACA428749840GLI2c.3270G>A (p.Gln1090=)
c.3321G>A (p.Gln1107=)
c.*2369G>A (n.*2369G>A)
c.*2420G>A (n.*2420G>A)
c.3303G>A (p.Gln1101=)
c.3180G>A (p.Gln1060=)
c.3126G>A (p.Gln1042=)
c.2946G>A (p.Gln982=)
c.2895G>A (p.Gln965=)
c.3573G>A (p.Gln1191=)
c.3222G>A (p.Gln1074=)
c.3522G>A (p.Gln1174=)
2g.120989235G>CCA348173410GLI2c.3270G>C (p.Gln1090His)
c.3321G>C (p.Gln1107His)
c.*2369G>C (n.*2369G>C)
c.*2420G>C (n.*2420G>C)
c.3303G>C (p.Gln1101His)
c.3180G>C (p.Gln1060His)
c.3126G>C (p.Gln1042His)
c.2946G>C (p.Gln982His)
c.2895G>C (p.Gln965His)
c.3573G>C (p.Gln1191His)
c.3222G>C (p.Gln1074His)
c.3522G>C (p.Gln1174His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989235G=CA1283795541GLI2c.3270G= (p.Gln1090=)
c.3321G= (p.Gln1107=)
c.*2369G= (n.*2369G=)
c.*2420G= (n.*2420G=)
c.3303G= (p.Gln1101=)
c.3180G= (p.Gln1060=)
c.3126G= (p.Gln1042=)
c.2946G= (p.Gln982=)
c.2895G= (p.Gln965=)
c.3573G= (p.Gln1191=)
c.3222G= (p.Gln1074=)
c.3522G= (p.Gln1174=)
2g.120989235G>TCA348173413GLI2c.3270G>T (p.Gln1090His)
c.3321G>T (p.Gln1107His)
c.*2369G>T (n.*2369G>T)
c.*2420G>T (n.*2420G>T)
c.3303G>T (p.Gln1101His)
c.3180G>T (p.Gln1060His)
c.3126G>T (p.Gln1042His)
c.2946G>T (p.Gln982His)
c.2895G>T (p.Gln965His)
c.3573G>T (p.Gln1191His)
c.3222G>T (p.Gln1074His)
c.3522G>T (p.Gln1174His)
2g.120989236C>ACA348173415GLI2c.3271C>A (p.Arg1091Ser)
c.3322C>A (p.Arg1108Ser)
c.*2370C>A (n.*2370C>A)
c.*2421C>A (n.*2421C>A)
c.3304C>A (p.Arg1102Ser)
c.3181C>A (p.Arg1061Ser)
c.3127C>A (p.Arg1043Ser)
c.2947C>A (p.Arg983Ser)
c.2896C>A (p.Arg966Ser)
c.3574C>A (p.Arg1192Ser)
c.3223C>A (p.Arg1075Ser)
c.3523C>A (p.Arg1175Ser)
2g.120989236C=CA1283795542GLI2c.3271C= (p.Arg1091=)
c.3322C= (p.Arg1108=)
c.*2370C= (n.*2370C=)
c.*2421C= (n.*2421C=)
c.3304C= (p.Arg1102=)
c.3181C= (p.Arg1061=)
c.3127C= (p.Arg1043=)
c.2947C= (p.Arg983=)
c.2896C= (p.Arg966=)
c.3574C= (p.Arg1192=)
c.3223C= (p.Arg1075=)
c.3523C= (p.Arg1175=)
2g.120989236C>GCA348173420GLI2c.3271C>G (p.Arg1091Gly)
c.3322C>G (p.Arg1108Gly)
c.*2370C>G (n.*2370C>G)
c.*2421C>G (n.*2421C>G)
c.3304C>G (p.Arg1102Gly)
c.3181C>G (p.Arg1061Gly)
c.3127C>G (p.Arg1043Gly)
c.2947C>G (p.Arg983Gly)
c.2896C>G (p.Arg966Gly)
c.3574C>G (p.Arg1192Gly)
c.3223C>G (p.Arg1075Gly)
c.3523C>G (p.Arg1175Gly)
2g.120989236C>TCA1852362GLI2c.3271C>T (p.Arg1091Cys)
c.3322C>T (p.Arg1108Cys)
c.*2370C>T (n.*2370C>T)
c.*2421C>T (n.*2421C>T)
c.3304C>T (p.Arg1102Cys)
c.3181C>T (p.Arg1061Cys)
c.3127C>T (p.Arg1043Cys)
c.2947C>T (p.Arg983Cys)
c.2896C>T (p.Arg966Cys)
c.3574C>T (p.Arg1192Cys)
c.3223C>T (p.Arg1075Cys)
c.3523C>T (p.Arg1175Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989237G>ACA348173424GLI2c.3272G>A (p.Arg1091His)
c.3323G>A (p.Arg1108His)
c.*2371G>A (n.*2371G>A)
c.*2422G>A (n.*2422G>A)
c.3305G>A (p.Arg1102His)
c.3182G>A (p.Arg1061His)
c.3128G>A (p.Arg1043His)
c.2948G>A (p.Arg983His)
c.2897G>A (p.Arg966His)
c.3575G>A (p.Arg1192His)
c.3224G>A (p.Arg1075His)
c.3524G>A (p.Arg1175His)
 ClinVar gnomAD v4
2g.120989237G>CCA348173429GLI2c.3272G>C (p.Arg1091Pro)
c.3323G>C (p.Arg1108Pro)
c.*2371G>C (n.*2371G>C)
c.*2422G>C (n.*2422G>C)
c.3305G>C (p.Arg1102Pro)
c.3182G>C (p.Arg1061Pro)
c.3128G>C (p.Arg1043Pro)
c.2948G>C (p.Arg983Pro)
c.2897G>C (p.Arg966Pro)
c.3575G>C (p.Arg1192Pro)
c.3224G>C (p.Arg1075Pro)
c.3524G>C (p.Arg1175Pro)
2g.120989237G=CA1283795543GLI2c.3272G= (p.Arg1091=)
c.3323G= (p.Arg1108=)
c.*2371G= (n.*2371G=)
c.*2422G= (n.*2422G=)
c.3305G= (p.Arg1102=)
c.3182G= (p.Arg1061=)
c.3128G= (p.Arg1043=)
c.2948G= (p.Arg983=)
c.2897G= (p.Arg966=)
c.3575G= (p.Arg1192=)
c.3224G= (p.Arg1075=)
c.3524G= (p.Arg1175=)
2g.120989237G>TCA1852363GLI2c.3272G>T (p.Arg1091Leu)
c.3323G>T (p.Arg1108Leu)
c.*2371G>T (n.*2371G>T)
c.*2422G>T (n.*2422G>T)
c.3305G>T (p.Arg1102Leu)
c.3182G>T (p.Arg1061Leu)
c.3128G>T (p.Arg1043Leu)
c.2948G>T (p.Arg983Leu)
c.2897G>T (p.Arg966Leu)
c.3575G>T (p.Arg1192Leu)
c.3224G>T (p.Arg1075Leu)
c.3524G>T (p.Arg1175Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989238C>ACA428749841GLI2c.3273C>A (p.Arg1091=)
c.3324C>A (p.Arg1108=)
c.*2372C>A (n.*2372C>A)
c.*2423C>A (n.*2423C>A)
c.3306C>A (p.Arg1102=)
c.3183C>A (p.Arg1061=)
c.3129C>A (p.Arg1043=)
c.2949C>A (p.Arg983=)
c.2898C>A (p.Arg966=)
c.3576C>A (p.Arg1192=)
c.3225C>A (p.Arg1075=)
c.3525C>A (p.Arg1175=)
2g.120989238C>GCA428749842GLI2c.3273C>G (p.Arg1091=)
c.3324C>G (p.Arg1108=)
c.*2372C>G (n.*2372C>G)
c.*2423C>G (n.*2423C>G)
c.3306C>G (p.Arg1102=)
c.3183C>G (p.Arg1061=)
c.3129C>G (p.Arg1043=)
c.2949C>G (p.Arg983=)
c.2898C>G (p.Arg966=)
c.3576C>G (p.Arg1192=)
c.3225C>G (p.Arg1075=)
c.3525C>G (p.Arg1175=)
2g.120989238C>TCA428749843GLI2c.3273C>T (p.Arg1091=)
c.3324C>T (p.Arg1108=)
c.*2372C>T (n.*2372C>T)
c.*2423C>T (n.*2423C>T)
c.3306C>T (p.Arg1102=)
c.3183C>T (p.Arg1061=)
c.3129C>T (p.Arg1043=)
c.2949C>T (p.Arg983=)
c.2898C>T (p.Arg966=)
c.3576C>T (p.Arg1192=)
c.3225C>T (p.Arg1075=)
c.3525C>T (p.Arg1175=)
2g.120989239A>CCA428749844GLI2c.3274A>C (p.Arg1092=)
c.3325A>C (p.Arg1109=)
c.*2373A>C (n.*2373A>C)
c.*2424A>C (n.*2424A>C)
c.3307A>C (p.Arg1103=)
c.3184A>C (p.Arg1062=)
c.3130A>C (p.Arg1044=)
c.2950A>C (p.Arg984=)
c.2899A>C (p.Arg967=)
c.3577A>C (p.Arg1193=)
c.3226A>C (p.Arg1076=)
c.3526A>C (p.Arg1176=)
2g.120989239A>GCA348173437GLI2c.3274A>G (p.Arg1092Gly)
c.3325A>G (p.Arg1109Gly)
c.*2373A>G (n.*2373A>G)
c.*2424A>G (n.*2424A>G)
c.3307A>G (p.Arg1103Gly)
c.3184A>G (p.Arg1062Gly)
c.3130A>G (p.Arg1044Gly)
c.2950A>G (p.Arg984Gly)
c.2899A>G (p.Arg967Gly)
c.3577A>G (p.Arg1193Gly)
c.3226A>G (p.Arg1076Gly)
c.3526A>G (p.Arg1176Gly)
 gnomAD v4
2g.120989239A>TCA348173439GLI2c.3274A>T (p.Arg1092Trp)
c.3325A>T (p.Arg1109Trp)
c.*2373A>T (n.*2373A>T)
c.*2424A>T (n.*2424A>T)
c.3307A>T (p.Arg1103Trp)
c.3184A>T (p.Arg1062Trp)
c.3130A>T (p.Arg1044Trp)
c.2950A>T (p.Arg984Trp)
c.2899A>T (p.Arg967Trp)
c.3577A>T (p.Arg1193Trp)
c.3226A>T (p.Arg1076Trp)
c.3526A>T (p.Arg1176Trp)
2g.120989240G>ACA348173440GLI2c.3275G>A (p.Arg1092Lys)
c.3326G>A (p.Arg1109Lys)
c.*2374G>A (n.*2374G>A)
c.*2425G>A (n.*2425G>A)
c.3308G>A (p.Arg1103Lys)
c.3185G>A (p.Arg1062Lys)
c.3131G>A (p.Arg1044Lys)
c.2951G>A (p.Arg984Lys)
c.2900G>A (p.Arg967Lys)
c.3578G>A (p.Arg1193Lys)
c.3227G>A (p.Arg1076Lys)
c.3527G>A (p.Arg1176Lys)
 gnomAD v4
2g.120989240G>CCA348173441GLI2c.3275G>C (p.Arg1092Thr)
c.3326G>C (p.Arg1109Thr)
c.*2374G>C (n.*2374G>C)
c.*2425G>C (n.*2425G>C)
c.3308G>C (p.Arg1103Thr)
c.3185G>C (p.Arg1062Thr)
c.3131G>C (p.Arg1044Thr)
c.2951G>C (p.Arg984Thr)
c.2900G>C (p.Arg967Thr)
c.3578G>C (p.Arg1193Thr)
c.3227G>C (p.Arg1076Thr)
c.3527G>C (p.Arg1176Thr)
2g.120989240G>TCA348173442GLI2c.3275G>T (p.Arg1092Met)
c.3326G>T (p.Arg1109Met)
c.*2374G>T (n.*2374G>T)
c.*2425G>T (n.*2425G>T)
c.3308G>T (p.Arg1103Met)
c.3185G>T (p.Arg1062Met)
c.3131G>T (p.Arg1044Met)
c.2951G>T (p.Arg984Met)
c.2900G>T (p.Arg967Met)
c.3578G>T (p.Arg1193Met)
c.3227G>T (p.Arg1076Met)
c.3527G>T (p.Arg1176Met)
2g.120989241G>ACA428749845GLI2c.3276G>A (p.Arg1092=)
c.3327G>A (p.Arg1109=)
c.*2375G>A (n.*2375G>A)
c.*2426G>A (n.*2426G>A)
c.3309G>A (p.Arg1103=)
c.3186G>A (p.Arg1062=)
c.3132G>A (p.Arg1044=)
c.2952G>A (p.Arg984=)
c.2901G>A (p.Arg967=)
c.3579G>A (p.Arg1193=)
c.3228G>A (p.Arg1076=)
c.3528G>A (p.Arg1176=)
2g.120989241G>CCA348173443GLI2c.3276G>C (p.Arg1092Ser)
c.3327G>C (p.Arg1109Ser)
c.*2375G>C (n.*2375G>C)
c.*2426G>C (n.*2426G>C)
c.3309G>C (p.Arg1103Ser)
c.3186G>C (p.Arg1062Ser)
c.3132G>C (p.Arg1044Ser)
c.2952G>C (p.Arg984Ser)
c.2901G>C (p.Arg967Ser)
c.3579G>C (p.Arg1193Ser)
c.3228G>C (p.Arg1076Ser)
c.3528G>C (p.Arg1176Ser)
2g.120989241G>TCA348173444GLI2c.3276G>T (p.Arg1092Ser)
c.3327G>T (p.Arg1109Ser)
c.*2375G>T (n.*2375G>T)
c.*2426G>T (n.*2426G>T)
c.3309G>T (p.Arg1103Ser)
c.3186G>T (p.Arg1062Ser)
c.3132G>T (p.Arg1044Ser)
c.2952G>T (p.Arg984Ser)
c.2901G>T (p.Arg967Ser)
c.3579G>T (p.Arg1193Ser)
c.3228G>T (p.Arg1076Ser)
c.3528G>T (p.Arg1176Ser)
2g.120989242A=CA1283795544GLI2c.3277A= (p.Met1093=)
c.3328A= (p.Met1110=)
c.*2376A= (n.*2376A=)
c.*2427A= (n.*2427A=)
c.3310A= (p.Met1104=)
c.3187A= (p.Met1063=)
c.3133A= (p.Met1045=)
c.2953A= (p.Met985=)
c.2902A= (p.Met968=)
c.3580A= (p.Met1194=)
c.3229A= (p.Met1077=)
c.3529A= (p.Met1177=)
2g.120989242A>CCA348173447GLI2c.3277A>C (p.Met1093Leu)
c.3328A>C (p.Met1110Leu)
c.*2376A>C (n.*2376A>C)
c.*2427A>C (n.*2427A>C)
c.3310A>C (p.Met1104Leu)
c.3187A>C (p.Met1063Leu)
c.3133A>C (p.Met1045Leu)
c.2953A>C (p.Met985Leu)
c.2902A>C (p.Met968Leu)
c.3580A>C (p.Met1194Leu)
c.3229A>C (p.Met1077Leu)
c.3529A>C (p.Met1177Leu)
2g.120989242A>GCA348173445GLI2c.3277A>G (p.Met1093Val)
c.3328A>G (p.Met1110Val)
c.*2376A>G (n.*2376A>G)
c.*2427A>G (n.*2427A>G)
c.3310A>G (p.Met1104Val)
c.3187A>G (p.Met1063Val)
c.3133A>G (p.Met1045Val)
c.2953A>G (p.Met985Val)
c.2902A>G (p.Met968Val)
c.3580A>G (p.Met1194Val)
c.3229A>G (p.Met1077Val)
c.3529A>G (p.Met1177Val)
2g.120989242A>TCA348173446GLI2c.3277A>T (p.Met1093Leu)
c.3328A>T (p.Met1110Leu)
c.*2376A>T (n.*2376A>T)
c.*2427A>T (n.*2427A>T)
c.3310A>T (p.Met1104Leu)
c.3187A>T (p.Met1063Leu)
c.3133A>T (p.Met1045Leu)
c.2953A>T (p.Met985Leu)
c.2902A>T (p.Met968Leu)
c.3580A>T (p.Met1194Leu)
c.3229A>T (p.Met1077Leu)
c.3529A>T (p.Met1177Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.120989243T>ACA348173448GLI2c.3278T>A (p.Met1093Lys)
c.3329T>A (p.Met1110Lys)
c.*2377T>A (n.*2377T>A)
c.*2428T>A (n.*2428T>A)
c.3311T>A (p.Met1104Lys)
c.3188T>A (p.Met1063Lys)
c.3134T>A (p.Met1045Lys)
c.2954T>A (p.Met985Lys)
c.2903T>A (p.Met968Lys)
c.3581T>A (p.Met1194Lys)
c.3230T>A (p.Met1077Lys)
c.3530T>A (p.Met1177Lys)
2g.120989243T>CCA348173449GLI2c.3278T>C (p.Met1093Thr)
c.3329T>C (p.Met1110Thr)
c.*2377T>C (n.*2377T>C)
c.*2428T>C (n.*2428T>C)
c.3311T>C (p.Met1104Thr)
c.3188T>C (p.Met1063Thr)
c.3134T>C (p.Met1045Thr)
c.2954T>C (p.Met985Thr)
c.2903T>C (p.Met968Thr)
c.3581T>C (p.Met1194Thr)
c.3230T>C (p.Met1077Thr)
c.3530T>C (p.Met1177Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.120989243T>GCA348173450GLI2c.3278T>G (p.Met1093Arg)
c.3329T>G (p.Met1110Arg)
c.*2377T>G (n.*2377T>G)
c.*2428T>G (n.*2428T>G)
c.3311T>G (p.Met1104Arg)
c.3188T>G (p.Met1063Arg)
c.3134T>G (p.Met1045Arg)
c.2954T>G (p.Met985Arg)
c.2903T>G (p.Met968Arg)
c.3581T>G (p.Met1194Arg)
c.3230T>G (p.Met1077Arg)
c.3530T>G (p.Met1177Arg)
2g.120989243T=CA1283795545GLI2c.3278T= (p.Met1093=)
c.3329T= (p.Met1110=)
c.*2377T= (n.*2377T=)
c.*2428T= (n.*2428T=)
c.3311T= (p.Met1104=)
c.3188T= (p.Met1063=)
c.3134T= (p.Met1045=)
c.2954T= (p.Met985=)
c.2903T= (p.Met968=)
c.3581T= (p.Met1194=)
c.3230T= (p.Met1077=)
c.3530T= (p.Met1177=)
2g.120989244G>ACA348173451GLI2c.3279G>A (p.Met1093Ile)
c.3330G>A (p.Met1110Ile)
c.*2378G>A (n.*2378G>A)
c.*2429G>A (n.*2429G>A)
c.3312G>A (p.Met1104Ile)
c.3189G>A (p.Met1063Ile)
c.3135G>A (p.Met1045Ile)
c.2955G>A (p.Met985Ile)
c.2904G>A (p.Met968Ile)
c.3582G>A (p.Met1194Ile)
c.3231G>A (p.Met1077Ile)
c.3531G>A (p.Met1177Ile)
 COSMIC
2g.120989244G>CCA348173452GLI2c.3279G>C (p.Met1093Ile)
c.3330G>C (p.Met1110Ile)
c.*2378G>C (n.*2378G>C)
c.*2429G>C (n.*2429G>C)
c.3312G>C (p.Met1104Ile)
c.3189G>C (p.Met1063Ile)
c.3135G>C (p.Met1045Ile)
c.2955G>C (p.Met985Ile)
c.2904G>C (p.Met968Ile)
c.3582G>C (p.Met1194Ile)
c.3231G>C (p.Met1077Ile)
c.3531G>C (p.Met1177Ile)
2g.120989244G>TCA348173453GLI2c.3279G>T (p.Met1093Ile)
c.3330G>T (p.Met1110Ile)
c.*2378G>T (n.*2378G>T)
c.*2429G>T (n.*2429G>T)
c.3312G>T (p.Met1104Ile)
c.3189G>T (p.Met1063Ile)
c.3135G>T (p.Met1045Ile)
c.2955G>T (p.Met985Ile)
c.2904G>T (p.Met968Ile)
c.3582G>T (p.Met1194Ile)
c.3231G>T (p.Met1077Ile)
c.3531G>T (p.Met1177Ile)
2g.120989245G>ACA348173454GLI2c.3280G>A (p.Val1094Met)
c.3331G>A (p.Val1111Met)
c.*2379G>A (n.*2379G>A)
c.*2430G>A (n.*2430G>A)
c.3313G>A (p.Val1105Met)
c.3190G>A (p.Val1064Met)
c.3136G>A (p.Val1046Met)
c.2956G>A (p.Val986Met)
c.2905G>A (p.Val969Met)
c.3583G>A (p.Val1195Met)
c.3232G>A (p.Val1078Met)
c.3532G>A (p.Val1178Met)
2g.120989245G>CCA348173455GLI2c.3280G>C (p.Val1094Leu)
c.3331G>C (p.Val1111Leu)
c.*2379G>C (n.*2379G>C)
c.*2430G>C (n.*2430G>C)
c.3313G>C (p.Val1105Leu)
c.3190G>C (p.Val1064Leu)
c.3136G>C (p.Val1046Leu)
c.2956G>C (p.Val986Leu)
c.2905G>C (p.Val969Leu)
c.3583G>C (p.Val1195Leu)
c.3232G>C (p.Val1078Leu)
c.3532G>C (p.Val1178Leu)
2g.120989245G>TCA348173456GLI2c.3280G>T (p.Val1094Leu)
c.3331G>T (p.Val1111Leu)
c.*2379G>T (n.*2379G>T)
c.*2430G>T (n.*2430G>T)
c.3313G>T (p.Val1105Leu)
c.3190G>T (p.Val1064Leu)
c.3136G>T (p.Val1046Leu)
c.2956G>T (p.Val986Leu)
c.2905G>T (p.Val969Leu)
c.3583G>T (p.Val1195Leu)
c.3232G>T (p.Val1078Leu)
c.3532G>T (p.Val1178Leu)
 gnomAD v4
2g.120989246delCA2586969873GLI2c.3281del (p.Val1094GlyfsTer19)
c.3332del (p.Val1111GlyfsTer19)
c.*2380del (n.*2380del)
c.*2431del (n.*2431del)
c.3314del (p.Val1105GlyfsTer19)
c.3191del (p.Val1064GlyfsTer19)
c.3137del (p.Val1046GlyfsTer19)
c.2957del (p.Val986GlyfsTer19)
c.2906del (p.Val969GlyfsTer19)
c.3584del (p.Val1195GlyfsTer19)
c.3233del (p.Val1078GlyfsTer19)
c.3533del (p.Val1178GlyfsTer19)
2g.120989246T>ACA348173457GLI2c.3281T>A (p.Val1094Glu)
c.3332T>A (p.Val1111Glu)
c.*2380T>A (n.*2380T>A)
c.*2431T>A (n.*2431T>A)
c.3314T>A (p.Val1105Glu)
c.3191T>A (p.Val1064Glu)
c.3137T>A (p.Val1046Glu)
c.2957T>A (p.Val986Glu)
c.2906T>A (p.Val969Glu)
c.3584T>A (p.Val1195Glu)
c.3233T>A (p.Val1078Glu)
c.3533T>A (p.Val1178Glu)
2g.120989246T>CCA1852364GLI2c.3281T>C (p.Val1094Ala)
c.3332T>C (p.Val1111Ala)
c.*2380T>C (n.*2380T>C)
c.*2431T>C (n.*2431T>C)
c.3314T>C (p.Val1105Ala)
c.3191T>C (p.Val1064Ala)
c.3137T>C (p.Val1046Ala)
c.2957T>C (p.Val986Ala)
c.2906T>C (p.Val969Ala)
c.3584T>C (p.Val1195Ala)
c.3233T>C (p.Val1078Ala)
c.3533T>C (p.Val1178Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989246T>GCA348173458GLI2c.3281T>G (p.Val1094Gly)
c.3332T>G (p.Val1111Gly)
c.*2380T>G (n.*2380T>G)
c.*2431T>G (n.*2431T>G)
c.3314T>G (p.Val1105Gly)
c.3191T>G (p.Val1064Gly)
c.3137T>G (p.Val1046Gly)
c.2957T>G (p.Val986Gly)
c.2906T>G (p.Val969Gly)
c.3584T>G (p.Val1195Gly)
c.3233T>G (p.Val1078Gly)
c.3533T>G (p.Val1178Gly)
2g.120989246T=CA1283795546GLI2c.3281T= (p.Val1094=)
c.3332T= (p.Val1111=)
c.*2380T= (n.*2380T=)
c.*2431T= (n.*2431T=)
c.3314T= (p.Val1105=)
c.3191T= (p.Val1064=)
c.3137T= (p.Val1046=)
c.2957T= (p.Val986=)
c.2906T= (p.Val969=)
c.3584T= (p.Val1195=)
c.3233T= (p.Val1078=)
c.3533T= (p.Val1178=)
2g.120989247G>ACA428749848GLI2c.3282G>A (p.Val1094=)
c.3333G>A (p.Val1111=)
c.*2381G>A (n.*2381G>A)
c.*2432G>A (n.*2432G>A)
c.3315G>A (p.Val1105=)
c.3192G>A (p.Val1064=)
c.3138G>A (p.Val1046=)
c.2958G>A (p.Val986=)
c.2907G>A (p.Val969=)
c.3585G>A (p.Val1195=)
c.3234G>A (p.Val1078=)
c.3534G>A (p.Val1178=)
2g.120989247G>CCA428749846GLI2c.3282G>C (p.Val1094=)
c.3333G>C (p.Val1111=)
c.*2381G>C (n.*2381G>C)
c.*2432G>C (n.*2432G>C)
c.3315G>C (p.Val1105=)
c.3192G>C (p.Val1064=)
c.3138G>C (p.Val1046=)
c.2958G>C (p.Val986=)
c.2907G>C (p.Val969=)
c.3585G>C (p.Val1195=)
c.3234G>C (p.Val1078=)
c.3534G>C (p.Val1178=)
2g.120989247G>TCA428749847GLI2c.3282G>T (p.Val1094=)
c.3333G>T (p.Val1111=)
c.*2381G>T (n.*2381G>T)
c.*2432G>T (n.*2432G>T)
c.3315G>T (p.Val1105=)
c.3192G>T (p.Val1064=)
c.3138G>T (p.Val1046=)
c.2958G>T (p.Val986=)
c.2907G>T (p.Val969=)
c.3585G>T (p.Val1195=)
c.3234G>T (p.Val1078=)
c.3534G>T (p.Val1178=)
2g.120989248G>ACA348173459GLI2c.3283G>A (p.Ala1095Thr)
c.3334G>A (p.Ala1112Thr)
c.*2382G>A (n.*2382G>A)
c.*2433G>A (n.*2433G>A)
c.3316G>A (p.Ala1106Thr)
c.3193G>A (p.Ala1065Thr)
c.3139G>A (p.Ala1047Thr)
c.2959G>A (p.Ala987Thr)
c.2908G>A (p.Ala970Thr)
c.3586G>A (p.Ala1196Thr)
c.3235G>A (p.Ala1079Thr)
c.3535G>A (p.Ala1179Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989248G>CCA348173461GLI2c.3283G>C (p.Ala1095Pro)
c.3334G>C (p.Ala1112Pro)
c.*2382G>C (n.*2382G>C)
c.*2433G>C (n.*2433G>C)
c.3316G>C (p.Ala1106Pro)
c.3193G>C (p.Ala1065Pro)
c.3139G>C (p.Ala1047Pro)
c.2959G>C (p.Ala987Pro)
c.2908G>C (p.Ala970Pro)
c.3586G>C (p.Ala1196Pro)
c.3235G>C (p.Ala1079Pro)
c.3535G>C (p.Ala1179Pro)
2g.120989248G=CA1283795547GLI2c.3283G= (p.Ala1095=)
c.3334G= (p.Ala1112=)
c.*2382G= (n.*2382G=)
c.*2433G= (n.*2433G=)
c.3316G= (p.Ala1106=)
c.3193G= (p.Ala1065=)
c.3139G= (p.Ala1047=)
c.2959G= (p.Ala987=)
c.2908G= (p.Ala970=)
c.3586G= (p.Ala1196=)
c.3235G= (p.Ala1079=)
c.3535G= (p.Ala1179=)
2g.120989248G>TCA348173460GLI2c.3283G>T (p.Ala1095Ser)
c.3334G>T (p.Ala1112Ser)
c.*2382G>T (n.*2382G>T)
c.*2433G>T (n.*2433G>T)
c.3316G>T (p.Ala1106Ser)
c.3193G>T (p.Ala1065Ser)
c.3139G>T (p.Ala1047Ser)
c.2959G>T (p.Ala987Ser)
c.2908G>T (p.Ala970Ser)
c.3586G>T (p.Ala1196Ser)
c.3235G>T (p.Ala1079Ser)
c.3535G>T (p.Ala1179Ser)
2g.120989249C>ACA348173462GLI2c.3284C>A (p.Ala1095Asp)
c.3335C>A (p.Ala1112Asp)
c.*2383C>A (n.*2383C>A)
c.*2434C>A (n.*2434C>A)
c.3317C>A (p.Ala1106Asp)
c.3194C>A (p.Ala1065Asp)
c.3140C>A (p.Ala1047Asp)
c.2960C>A (p.Ala987Asp)
c.2909C>A (p.Ala970Asp)
c.3587C>A (p.Ala1196Asp)
c.3236C>A (p.Ala1079Asp)
c.3536C>A (p.Ala1179Asp)
2g.120989249C=CA1283795548GLI2c.3284C= (p.Ala1095=)
c.3335C= (p.Ala1112=)
c.*2383C= (n.*2383C=)
c.*2434C= (n.*2434C=)
c.3317C= (p.Ala1106=)
c.3194C= (p.Ala1065=)
c.3140C= (p.Ala1047=)
c.2960C= (p.Ala987=)
c.2909C= (p.Ala970=)
c.3587C= (p.Ala1196=)
c.3236C= (p.Ala1079=)
c.3536C= (p.Ala1179=)
2g.120989249C>GCA348173463GLI2c.3284C>G (p.Ala1095Gly)
c.3335C>G (p.Ala1112Gly)
c.*2383C>G (n.*2383C>G)
c.*2434C>G (n.*2434C>G)
c.3317C>G (p.Ala1106Gly)
c.3194C>G (p.Ala1065Gly)
c.3140C>G (p.Ala1047Gly)
c.2960C>G (p.Ala987Gly)
c.2909C>G (p.Ala970Gly)
c.3587C>G (p.Ala1196Gly)
c.3236C>G (p.Ala1079Gly)
c.3536C>G (p.Ala1179Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.120989249C>TCA348173464GLI2c.3284C>T (p.Ala1095Val)
c.3335C>T (p.Ala1112Val)
c.*2383C>T (n.*2383C>T)
c.*2434C>T (n.*2434C>T)
c.3317C>T (p.Ala1106Val)
c.3194C>T (p.Ala1065Val)
c.3140C>T (p.Ala1047Val)
c.2960C>T (p.Ala987Val)
c.2909C>T (p.Ala970Val)
c.3587C>T (p.Ala1196Val)
c.3236C>T (p.Ala1079Val)
c.3536C>T (p.Ala1179Val)
2g.120989250T>ACA428749849GLI2c.3285T>A (p.Ala1095=)
c.3336T>A (p.Ala1112=)
c.*2384T>A (n.*2384T>A)
c.*2435T>A (n.*2435T>A)
c.3318T>A (p.Ala1106=)
c.3195T>A (p.Ala1065=)
c.3141T>A (p.Ala1047=)
c.2961T>A (p.Ala987=)
c.2910T>A (p.Ala970=)
c.3588T>A (p.Ala1196=)
c.3237T>A (p.Ala1079=)
c.3537T>A (p.Ala1179=)
2g.120989250T>CCA428749850GLI2c.3285T>C (p.Ala1095=)
c.3336T>C (p.Ala1112=)
c.*2384T>C (n.*2384T>C)
c.*2435T>C (n.*2435T>C)
c.3318T>C (p.Ala1106=)
c.3195T>C (p.Ala1065=)
c.3141T>C (p.Ala1047=)
c.2961T>C (p.Ala987=)
c.2910T>C (p.Ala970=)
c.3588T>C (p.Ala1196=)
c.3237T>C (p.Ala1079=)
c.3537T>C (p.Ala1179=)
2g.120989250T>GCA428749851GLI2c.3285T>G (p.Ala1095=)
c.3336T>G (p.Ala1112=)
c.*2384T>G (n.*2384T>G)
c.*2435T>G (n.*2435T>G)
c.3318T>G (p.Ala1106=)
c.3195T>G (p.Ala1065=)
c.3141T>G (p.Ala1047=)
c.2961T>G (p.Ala987=)
c.2910T>G (p.Ala970=)
c.3588T>G (p.Ala1196=)
c.3237T>G (p.Ala1079=)
c.3537T>G (p.Ala1179=)
2g.120989251G>ACA348173465GLI2c.3286G>A (p.Ala1096Thr)
c.3337G>A (p.Ala1113Thr)
c.*2385G>A (n.*2385G>A)
c.*2436G>A (n.*2436G>A)
c.3319G>A (p.Ala1107Thr)
c.3196G>A (p.Ala1066Thr)
c.3142G>A (p.Ala1048Thr)
c.2962G>A (p.Ala988Thr)
c.2911G>A (p.Ala971Thr)
c.3589G>A (p.Ala1197Thr)
c.3238G>A (p.Ala1080Thr)
c.3538G>A (p.Ala1180Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.120989251G>CCA348173466GLI2c.3286G>C (p.Ala1096Pro)
c.3337G>C (p.Ala1113Pro)
c.*2385G>C (n.*2385G>C)
c.*2436G>C (n.*2436G>C)
c.3319G>C (p.Ala1107Pro)
c.3196G>C (p.Ala1066Pro)
c.3142G>C (p.Ala1048Pro)
c.2962G>C (p.Ala988Pro)
c.2911G>C (p.Ala971Pro)
c.3589G>C (p.Ala1197Pro)
c.3238G>C (p.Ala1080Pro)
c.3538G>C (p.Ala1180Pro)
2g.120989251G=CA1283795549GLI2c.3286G= (p.Ala1096=)
c.3337G= (p.Ala1113=)
c.*2385G= (n.*2385G=)
c.*2436G= (n.*2436G=)
c.3319G= (p.Ala1107=)
c.3196G= (p.Ala1066=)
c.3142G= (p.Ala1048=)
c.2962G= (p.Ala988=)
c.2911G= (p.Ala971=)
c.3589G= (p.Ala1197=)
c.3238G= (p.Ala1080=)
c.3538G= (p.Ala1180=)
2g.120989251G>TCA348173467GLI2c.3286G>T (p.Ala1096Ser)
c.3337G>T (p.Ala1113Ser)
c.*2385G>T (n.*2385G>T)
c.*2436G>T (n.*2436G>T)
c.3319G>T (p.Ala1107Ser)
c.3196G>T (p.Ala1066Ser)
c.3142G>T (p.Ala1048Ser)
c.2962G>T (p.Ala988Ser)
c.2911G>T (p.Ala971Ser)
c.3589G>T (p.Ala1197Ser)
c.3238G>T (p.Ala1080Ser)
c.3538G>T (p.Ala1180Ser)
2g.120989252C>ACA348173468GLI2c.3287C>A (p.Ala1096Glu)
c.3338C>A (p.Ala1113Glu)
c.*2386C>A (n.*2386C>A)
c.*2437C>A (n.*2437C>A)
c.3320C>A (p.Ala1107Glu)
c.3197C>A (p.Ala1066Glu)
c.3143C>A (p.Ala1048Glu)
c.2963C>A (p.Ala988Glu)
c.2912C>A (p.Ala971Glu)
c.3590C>A (p.Ala1197Glu)
c.3239C>A (p.Ala1080Glu)
c.3539C>A (p.Ala1180Glu)
2g.120989252C>GCA348173469GLI2c.3287C>G (p.Ala1096Gly)
c.3338C>G (p.Ala1113Gly)
c.*2386C>G (n.*2386C>G)
c.*2437C>G (n.*2437C>G)
c.3320C>G (p.Ala1107Gly)
c.3197C>G (p.Ala1066Gly)
c.3143C>G (p.Ala1048Gly)
c.2963C>G (p.Ala988Gly)
c.2912C>G (p.Ala971Gly)
c.3590C>G (p.Ala1197Gly)
c.3239C>G (p.Ala1080Gly)
c.3539C>G (p.Ala1180Gly)
2g.120989252C>TCA348173470GLI2c.3287C>T (p.Ala1096Val)
c.3338C>T (p.Ala1113Val)
c.*2386C>T (n.*2386C>T)
c.*2437C>T (n.*2437C>T)
c.3320C>T (p.Ala1107Val)
c.3197C>T (p.Ala1066Val)
c.3143C>T (p.Ala1048Val)
c.2963C>T (p.Ala988Val)
c.2912C>T (p.Ala971Val)
c.3590C>T (p.Ala1197Val)
c.3239C>T (p.Ala1080Val)
c.3539C>T (p.Ala1180Val)
 gnomAD v4
2g.120989253G>ACA428749852GLI2c.3288G>A (p.Ala1096=)
c.3339G>A (p.Ala1113=)
c.*2387G>A (n.*2387G>A)
c.*2438G>A (n.*2438G>A)
c.3321G>A (p.Ala1107=)
c.3198G>A (p.Ala1066=)
c.3144G>A (p.Ala1048=)
c.2964G>A (p.Ala988=)
c.2913G>A (p.Ala971=)
c.3591G>A (p.Ala1197=)
c.3240G>A (p.Ala1080=)
c.3540G>A (p.Ala1180=)
 dbSNP COSMIC
2g.120989253G>CCA428749853GLI2c.3288G>C (p.Ala1096=)
c.3339G>C (p.Ala1113=)
c.*2387G>C (n.*2387G>C)
c.*2438G>C (n.*2438G>C)
c.3321G>C (p.Ala1107=)
c.3198G>C (p.Ala1066=)
c.3144G>C (p.Ala1048=)
c.2964G>C (p.Ala988=)
c.2913G>C (p.Ala971=)
c.3591G>C (p.Ala1197=)
c.3240G>C (p.Ala1080=)
c.3540G>C (p.Ala1180=)
 gnomAD v4
2g.120989253G=CA1283795550GLI2c.3288G= (p.Ala1096=)
c.3339G= (p.Ala1113=)
c.*2387G= (n.*2387G=)
c.*2438G= (n.*2438G=)
c.3321G= (p.Ala1107=)
c.3198G= (p.Ala1066=)
c.3144G= (p.Ala1048=)
c.2964G= (p.Ala988=)
c.2913G= (p.Ala971=)
c.3591G= (p.Ala1197=)
c.3240G= (p.Ala1080=)
c.3540G= (p.Ala1180=)
2g.120989253G>TCA428749854GLI2c.3288G>T (p.Ala1096=)
c.3339G>T (p.Ala1113=)
c.*2387G>T (n.*2387G>T)
c.*2438G>T (n.*2438G>T)
c.3321G>T (p.Ala1107=)
c.3198G>T (p.Ala1066=)
c.3144G>T (p.Ala1048=)
c.2964G>T (p.Ala988=)
c.2913G>T (p.Ala971=)
c.3591G>T (p.Ala1197=)
c.3240G>T (p.Ala1080=)
c.3540G>T (p.Ala1180=)
2g.120989254G>ACA348173471GLI2c.3289G>A (p.Asp1097Asn)
c.3340G>A (p.Asp1114Asn)
c.*2388G>A (n.*2388G>A)
c.*2439G>A (n.*2439G>A)
c.3322G>A (p.Asp1108Asn)
c.3199G>A (p.Asp1067Asn)
c.3145G>A (p.Asp1049Asn)
c.2965G>A (p.Asp989Asn)
c.2914G>A (p.Asp972Asn)
c.3592G>A (p.Asp1198Asn)
c.3241G>A (p.Asp1081Asn)
c.3541G>A (p.Asp1181Asn)
2g.120989254G>CCA348173472GLI2c.3289G>C (p.Asp1097His)
c.3340G>C (p.Asp1114His)
c.*2388G>C (n.*2388G>C)
c.*2439G>C (n.*2439G>C)
c.3322G>C (p.Asp1108His)
c.3199G>C (p.Asp1067His)
c.3145G>C (p.Asp1049His)
c.2965G>C (p.Asp989His)
c.2914G>C (p.Asp972His)
c.3592G>C (p.Asp1198His)
c.3241G>C (p.Asp1081His)
c.3541G>C (p.Asp1181His)
 gnomAD v4
2g.120989254G=CA1283795551GLI2c.3289G= (p.Asp1097=)
c.3340G= (p.Asp1114=)
c.*2388G= (n.*2388G=)
c.*2439G= (n.*2439G=)
c.3322G= (p.Asp1108=)
c.3199G= (p.Asp1067=)
c.3145G= (p.Asp1049=)
c.2965G= (p.Asp989=)
c.2914G= (p.Asp972=)
c.3592G= (p.Asp1198=)
c.3241G= (p.Asp1081=)
c.3541G= (p.Asp1181=)
2g.120989254G>TCA1852365GLI2c.3289G>T (p.Asp1097Tyr)
c.3340G>T (p.Asp1114Tyr)
c.*2388G>T (n.*2388G>T)
c.*2439G>T (n.*2439G>T)
c.3322G>T (p.Asp1108Tyr)
c.3199G>T (p.Asp1067Tyr)
c.3145G>T (p.Asp1049Tyr)
c.2965G>T (p.Asp989Tyr)
c.2914G>T (p.Asp972Tyr)
c.3592G>T (p.Asp1198Tyr)
c.3241G>T (p.Asp1081Tyr)
c.3541G>T (p.Asp1181Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989255A>CCA348173475GLI2c.3290A>C (p.Asp1097Ala)
c.3341A>C (p.Asp1114Ala)
c.*2389A>C (n.*2389A>C)
c.*2440A>C (n.*2440A>C)
c.3323A>C (p.Asp1108Ala)
c.3200A>C (p.Asp1067Ala)
c.3146A>C (p.Asp1049Ala)
c.2966A>C (p.Asp989Ala)
c.2915A>C (p.Asp972Ala)
c.3593A>C (p.Asp1198Ala)
c.3242A>C (p.Asp1081Ala)
c.3542A>C (p.Asp1181Ala)
2g.120989255A>GCA348173473GLI2c.3290A>G (p.Asp1097Gly)
c.3341A>G (p.Asp1114Gly)
c.*2389A>G (n.*2389A>G)
c.*2440A>G (n.*2440A>G)
c.3323A>G (p.Asp1108Gly)
c.3200A>G (p.Asp1067Gly)
c.3146A>G (p.Asp1049Gly)
c.2966A>G (p.Asp989Gly)
c.2915A>G (p.Asp972Gly)
c.3593A>G (p.Asp1198Gly)
c.3242A>G (p.Asp1081Gly)
c.3542A>G (p.Asp1181Gly)
2g.120989255A>TCA348173474GLI2c.3290A>T (p.Asp1097Val)
c.3341A>T (p.Asp1114Val)
c.*2389A>T (n.*2389A>T)
c.*2440A>T (n.*2440A>T)
c.3323A>T (p.Asp1108Val)
c.3200A>T (p.Asp1067Val)
c.3146A>T (p.Asp1049Val)
c.2966A>T (p.Asp989Val)
c.2915A>T (p.Asp972Val)
c.3593A>T (p.Asp1198Val)
c.3242A>T (p.Asp1081Val)
c.3542A>T (p.Asp1181Val)
2g.120989256C>ACA348173476GLI2c.3291C>A (p.Asp1097Glu)
c.3342C>A (p.Asp1114Glu)
c.*2390C>A (n.*2390C>A)
c.*2441C>A (n.*2441C>A)
c.3324C>A (p.Asp1108Glu)
c.3201C>A (p.Asp1067Glu)
c.3147C>A (p.Asp1049Glu)
c.2967C>A (p.Asp989Glu)
c.2916C>A (p.Asp972Glu)
c.3594C>A (p.Asp1198Glu)
c.3243C>A (p.Asp1081Glu)
c.3543C>A (p.Asp1181Glu)
2g.120989256C=CA1283795552GLI2c.3291C= (p.Asp1097=)
c.3342C= (p.Asp1114=)
c.*2390C= (n.*2390C=)
c.*2441C= (n.*2441C=)
c.3324C= (p.Asp1108=)
c.3201C= (p.Asp1067=)
c.3147C= (p.Asp1049=)
c.2967C= (p.Asp989=)
c.2916C= (p.Asp972=)
c.3594C= (p.Asp1198=)
c.3243C= (p.Asp1081=)
c.3543C= (p.Asp1181=)
2g.120989256C>GCA1852366GLI2c.3291C>G (p.Asp1097Glu)
c.3342C>G (p.Asp1114Glu)
c.*2390C>G (n.*2390C>G)
c.*2441C>G (n.*2441C>G)
c.3324C>G (p.Asp1108Glu)
c.3201C>G (p.Asp1067Glu)
c.3147C>G (p.Asp1049Glu)
c.2967C>G (p.Asp989Glu)
c.2916C>G (p.Asp972Glu)
c.3594C>G (p.Asp1198Glu)
c.3243C>G (p.Asp1081Glu)
c.3543C>G (p.Asp1181Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989256C>TCA428749855GLI2c.3291C>T (p.Asp1097=)
c.3342C>T (p.Asp1114=)
c.*2390C>T (n.*2390C>T)
c.*2441C>T (n.*2441C>T)
c.3324C>T (p.Asp1108=)
c.3201C>T (p.Asp1067=)
c.3147C>T (p.Asp1049=)
c.2967C>T (p.Asp989=)
c.2916C>T (p.Asp972=)
c.3594C>T (p.Asp1198=)
c.3243C>T (p.Asp1081=)
c.3543C>T (p.Asp1181=)
 dbSNP gnomAD v2 gnomAD v4
2g.120989257T>ACA348173477GLI2c.3292T>A (p.Ser1098Thr)
c.3343T>A (p.Ser1115Thr)
c.*2391T>A (n.*2391T>A)
c.*2442T>A (n.*2442T>A)
c.3325T>A (p.Ser1109Thr)
c.3202T>A (p.Ser1068Thr)
c.3148T>A (p.Ser1050Thr)
c.2968T>A (p.Ser990Thr)
c.2917T>A (p.Ser973Thr)
c.3595T>A (p.Ser1199Thr)
c.3244T>A (p.Ser1082Thr)
c.3544T>A (p.Ser1182Thr)
2g.120989257T>CCA348173478GLI2c.3292T>C (p.Ser1098Pro)
c.3343T>C (p.Ser1115Pro)
c.*2391T>C (n.*2391T>C)
c.*2442T>C (n.*2442T>C)
c.3325T>C (p.Ser1109Pro)
c.3202T>C (p.Ser1068Pro)
c.3148T>C (p.Ser1050Pro)
c.2968T>C (p.Ser990Pro)
c.2917T>C (p.Ser973Pro)
c.3595T>C (p.Ser1199Pro)
c.3244T>C (p.Ser1082Pro)
c.3544T>C (p.Ser1182Pro)
2g.120989257T>GCA348173482GLI2c.3292T>G (p.Ser1098Ala)
c.3343T>G (p.Ser1115Ala)
c.*2391T>G (n.*2391T>G)
c.*2442T>G (n.*2442T>G)
c.3325T>G (p.Ser1109Ala)
c.3202T>G (p.Ser1068Ala)
c.3148T>G (p.Ser1050Ala)
c.2968T>G (p.Ser990Ala)
c.2917T>G (p.Ser973Ala)
c.3595T>G (p.Ser1199Ala)
c.3244T>G (p.Ser1082Ala)
c.3544T>G (p.Ser1182Ala)
2g.120989258C>ACA348173483GLI2c.3293C>A (p.Ser1098Tyr)
c.3344C>A (p.Ser1115Tyr)
c.*2392C>A (n.*2392C>A)
c.*2443C>A (n.*2443C>A)
c.3326C>A (p.Ser1109Tyr)
c.3203C>A (p.Ser1068Tyr)
c.3149C>A (p.Ser1050Tyr)
c.2969C>A (p.Ser990Tyr)
c.2918C>A (p.Ser973Tyr)
c.3596C>A (p.Ser1199Tyr)
c.3245C>A (p.Ser1082Tyr)
c.3545C>A (p.Ser1182Tyr)
2g.120989258C=CA1283795553GLI2c.3293C= (p.Ser1098=)
c.3344C= (p.Ser1115=)
c.*2392C= (n.*2392C=)
c.*2443C= (n.*2443C=)
c.3326C= (p.Ser1109=)
c.3203C= (p.Ser1068=)
c.3149C= (p.Ser1050=)
c.2969C= (p.Ser990=)
c.2918C= (p.Ser973=)
c.3596C= (p.Ser1199=)
c.3245C= (p.Ser1082=)
c.3545C= (p.Ser1182=)
2g.120989258C>GCA348173484GLI2c.3293C>G (p.Ser1098Cys)
c.3344C>G (p.Ser1115Cys)
c.*2392C>G (n.*2392C>G)
c.*2443C>G (n.*2443C>G)
c.3326C>G (p.Ser1109Cys)
c.3203C>G (p.Ser1068Cys)
c.3149C>G (p.Ser1050Cys)
c.2969C>G (p.Ser990Cys)
c.2918C>G (p.Ser973Cys)
c.3596C>G (p.Ser1199Cys)
c.3245C>G (p.Ser1082Cys)
c.3545C>G (p.Ser1182Cys)
2g.120989258C>TCA1852367GLI2c.3293C>T (p.Ser1098Phe)
c.3344C>T (p.Ser1115Phe)
c.*2392C>T (n.*2392C>T)
c.*2443C>T (n.*2443C>T)
c.3326C>T (p.Ser1109Phe)
c.3203C>T (p.Ser1068Phe)
c.3149C>T (p.Ser1050Phe)
c.2969C>T (p.Ser990Phe)
c.2918C>T (p.Ser973Phe)
c.3596C>T (p.Ser1199Phe)
c.3245C>T (p.Ser1082Phe)
c.3545C>T (p.Ser1182Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989259C>ACA428749856GLI2c.3294C>A (p.Ser1098=)
c.3345C>A (p.Ser1115=)
c.*2393C>A (n.*2393C>A)
c.*2444C>A (n.*2444C>A)
c.3327C>A (p.Ser1109=)
c.3204C>A (p.Ser1068=)
c.3150C>A (p.Ser1050=)
c.2970C>A (p.Ser990=)
c.2919C>A (p.Ser973=)
c.3597C>A (p.Ser1199=)
c.3246C>A (p.Ser1082=)
c.3546C>A (p.Ser1182=)
2g.120989259C>GCA428749857GLI2c.3294C>G (p.Ser1098=)
c.3345C>G (p.Ser1115=)
c.*2393C>G (n.*2393C>G)
c.*2444C>G (n.*2444C>G)
c.3327C>G (p.Ser1109=)
c.3204C>G (p.Ser1068=)
c.3150C>G (p.Ser1050=)
c.2970C>G (p.Ser990=)
c.2919C>G (p.Ser973=)
c.3597C>G (p.Ser1199=)
c.3246C>G (p.Ser1082=)
c.3546C>G (p.Ser1182=)
 gnomAD v4
2g.120989259C>TCA428749858GLI2c.3294C>T (p.Ser1098=)
c.3345C>T (p.Ser1115=)
c.*2393C>T (n.*2393C>T)
c.*2444C>T (n.*2444C>T)
c.3327C>T (p.Ser1109=)
c.3204C>T (p.Ser1068=)
c.3150C>T (p.Ser1050=)
c.2970C>T (p.Ser990=)
c.2919C>T (p.Ser973=)
c.3597C>T (p.Ser1199=)
c.3246C>T (p.Ser1082=)
c.3546C>T (p.Ser1182=)
2g.120989260A=CA1283795554GLI2c.3295A= (p.Asn1099=)
c.3346A= (p.Asn1116=)
c.*2394A= (n.*2394A=)
c.*2445A= (n.*2445A=)
c.3328A= (p.Asn1110=)
c.3205A= (p.Asn1069=)
c.3151A= (p.Asn1051=)
c.2971A= (p.Asn991=)
c.2920A= (p.Asn974=)
c.3598A= (p.Asn1200=)
c.3247A= (p.Asn1083=)
c.3547A= (p.Asn1183=)
2g.120989260A>CCA348173488GLI2c.3295A>C (p.Asn1099His)
c.3346A>C (p.Asn1116His)
c.*2394A>C (n.*2394A>C)
c.*2445A>C (n.*2445A>C)
c.3328A>C (p.Asn1110His)
c.3205A>C (p.Asn1069His)
c.3151A>C (p.Asn1051His)
c.2971A>C (p.Asn991His)
c.2920A>C (p.Asn974His)
c.3598A>C (p.Asn1200His)
c.3247A>C (p.Asn1083His)
c.3547A>C (p.Asn1183His)
2g.120989260A>GCA348173489GLI2c.3295A>G (p.Asn1099Asp)
c.3346A>G (p.Asn1116Asp)
c.*2394A>G (n.*2394A>G)
c.*2445A>G (n.*2445A>G)
c.3328A>G (p.Asn1110Asp)
c.3205A>G (p.Asn1069Asp)
c.3151A>G (p.Asn1051Asp)
c.2971A>G (p.Asn991Asp)
c.2920A>G (p.Asn974Asp)
c.3598A>G (p.Asn1200Asp)
c.3247A>G (p.Asn1083Asp)
c.3547A>G (p.Asn1183Asp)
 dbSNP
2g.120989260A>TCA348173491GLI2c.3295A>T (p.Asn1099Tyr)
c.3346A>T (p.Asn1116Tyr)
c.*2394A>T (n.*2394A>T)
c.*2445A>T (n.*2445A>T)
c.3328A>T (p.Asn1110Tyr)
c.3205A>T (p.Asn1069Tyr)
c.3151A>T (p.Asn1051Tyr)
c.2971A>T (p.Asn991Tyr)
c.2920A>T (p.Asn974Tyr)
c.3598A>T (p.Asn1200Tyr)
c.3247A>T (p.Asn1083Tyr)
c.3547A>T (p.Asn1183Tyr)
2g.120989261A=CA1283795555GLI2c.3296A= (p.Asn1099=)
c.3347A= (p.Asn1116=)
c.*2395A= (n.*2395A=)
c.*2446A= (n.*2446A=)
c.3329A= (p.Asn1110=)
c.3206A= (p.Asn1069=)
c.3152A= (p.Asn1051=)
c.2972A= (p.Asn991=)
c.2921A= (p.Asn974=)
c.3599A= (p.Asn1200=)
c.3248A= (p.Asn1083=)
c.3548A= (p.Asn1183=)
2g.120989261A>CCA348173494GLI2c.3296A>C (p.Asn1099Thr)
c.3347A>C (p.Asn1116Thr)
c.*2395A>C (n.*2395A>C)
c.*2446A>C (n.*2446A>C)
c.3329A>C (p.Asn1110Thr)
c.3206A>C (p.Asn1069Thr)
c.3152A>C (p.Asn1051Thr)
c.2972A>C (p.Asn991Thr)
c.2921A>C (p.Asn974Thr)
c.3599A>C (p.Asn1200Thr)
c.3248A>C (p.Asn1083Thr)
c.3548A>C (p.Asn1183Thr)
 gnomAD v4
2g.120989261A>GCA1852368GLI2c.3296A>G (p.Asn1099Ser)
c.3347A>G (p.Asn1116Ser)
c.*2395A>G (n.*2395A>G)
c.*2446A>G (n.*2446A>G)
c.3329A>G (p.Asn1110Ser)
c.3206A>G (p.Asn1069Ser)
c.3152A>G (p.Asn1051Ser)
c.2972A>G (p.Asn991Ser)
c.2921A>G (p.Asn974Ser)
c.3599A>G (p.Asn1200Ser)
c.3248A>G (p.Asn1083Ser)
c.3548A>G (p.Asn1183Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989261A>TCA348173492GLI2c.3296A>T (p.Asn1099Ile)
c.3347A>T (p.Asn1116Ile)
c.*2395A>T (n.*2395A>T)
c.*2446A>T (n.*2446A>T)
c.3329A>T (p.Asn1110Ile)
c.3206A>T (p.Asn1069Ile)
c.3152A>T (p.Asn1051Ile)
c.2972A>T (p.Asn991Ile)
c.2921A>T (p.Asn974Ile)
c.3599A>T (p.Asn1200Ile)
c.3248A>T (p.Asn1083Ile)
c.3548A>T (p.Asn1183Ile)
 dbSNP gnomAD v4
2g.120989262C>ACA348173501GLI2c.3297C>A (p.Asn1099Lys)
c.3348C>A (p.Asn1116Lys)
c.*2396C>A (n.*2396C>A)
c.*2447C>A (n.*2447C>A)
c.3330C>A (p.Asn1110Lys)
c.3207C>A (p.Asn1069Lys)
c.3153C>A (p.Asn1051Lys)
c.2973C>A (p.Asn991Lys)
c.2922C>A (p.Asn974Lys)
c.3600C>A (p.Asn1200Lys)
c.3249C>A (p.Asn1083Lys)
c.3549C>A (p.Asn1183Lys)
 COSMIC
2g.120989262C=CA1283795556GLI2c.3297C= (p.Asn1099=)
c.3348C= (p.Asn1116=)
c.*2396C= (n.*2396C=)
c.*2447C= (n.*2447C=)
c.3330C= (p.Asn1110=)
c.3207C= (p.Asn1069=)
c.3153C= (p.Asn1051=)
c.2973C= (p.Asn991=)
c.2922C= (p.Asn974=)
c.3600C= (p.Asn1200=)
c.3249C= (p.Asn1083=)
c.3549C= (p.Asn1183=)
2g.120989262C>GCA1852369GLI2c.3297C>G (p.Asn1099Lys)
c.3348C>G (p.Asn1116Lys)
c.*2396C>G (n.*2396C>G)
c.*2447C>G (n.*2447C>G)
c.3330C>G (p.Asn1110Lys)
c.3207C>G (p.Asn1069Lys)
c.3153C>G (p.Asn1051Lys)
c.2973C>G (p.Asn991Lys)
c.2922C>G (p.Asn974Lys)
c.3600C>G (p.Asn1200Lys)
c.3249C>G (p.Asn1083Lys)
c.3549C>G (p.Asn1183Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989262C>TCA428749859GLI2c.3297C>T (p.Asn1099=)
c.3348C>T (p.Asn1116=)
c.*2396C>T (n.*2396C>T)
c.*2447C>T (n.*2447C>T)
c.3330C>T (p.Asn1110=)
c.3207C>T (p.Asn1069=)
c.3153C>T (p.Asn1051=)
c.2973C>T (p.Asn991=)
c.2922C>T (p.Asn974=)
c.3600C>T (p.Asn1200=)
c.3249C>T (p.Asn1083=)
c.3549C>T (p.Asn1183=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989263G>ACA348173503GLI2c.3298G>A (p.Val1100Met)
c.3349G>A (p.Val1117Met)
c.*2397G>A (n.*2397G>A)
c.*2448G>A (n.*2448G>A)
c.3331G>A (p.Val1111Met)
c.3208G>A (p.Val1070Met)
c.3154G>A (p.Val1052Met)
c.2974G>A (p.Val992Met)
c.2923G>A (p.Val975Met)
c.3601G>A (p.Val1201Met)
c.3250G>A (p.Val1084Met)
c.3550G>A (p.Val1184Met)
 gnomAD v4
2g.120989263G>CCA348173504GLI2c.3298G>C (p.Val1100Leu)
c.3349G>C (p.Val1117Leu)
c.*2397G>C (n.*2397G>C)
c.*2448G>C (n.*2448G>C)
c.3331G>C (p.Val1111Leu)
c.3208G>C (p.Val1070Leu)
c.3154G>C (p.Val1052Leu)
c.2974G>C (p.Val992Leu)
c.2923G>C (p.Val975Leu)
c.3601G>C (p.Val1201Leu)
c.3250G>C (p.Val1084Leu)
c.3550G>C (p.Val1184Leu)
 gnomAD v4
2g.120989263G=CA1283795557GLI2c.3298G= (p.Val1100=)
c.3349G= (p.Val1117=)
c.*2397G= (n.*2397G=)
c.*2448G= (n.*2448G=)
c.3331G= (p.Val1111=)
c.3208G= (p.Val1070=)
c.3154G= (p.Val1052=)
c.2974G= (p.Val992=)
c.2923G= (p.Val975=)
c.3601G= (p.Val1201=)
c.3250G= (p.Val1084=)
c.3550G= (p.Val1184=)
2g.120989263G>TCA148365GLI2c.3298G>T (p.Val1100Leu)
c.3349G>T (p.Val1117Leu)
c.*2397G>T (n.*2397G>T)
c.*2448G>T (n.*2448G>T)
c.3331G>T (p.Val1111Leu)
c.3208G>T (p.Val1070Leu)
c.3154G>T (p.Val1052Leu)
c.2974G>T (p.Val992Leu)
c.2923G>T (p.Val975Leu)
c.3601G>T (p.Val1201Leu)
c.3250G>T (p.Val1084Leu)
c.3550G>T (p.Val1184Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989264T>ACA348173506GLI2c.3299T>A (p.Val1100Glu)
c.3350T>A (p.Val1117Glu)
c.*2398T>A (n.*2398T>A)
c.*2449T>A (n.*2449T>A)
c.3332T>A (p.Val1111Glu)
c.3209T>A (p.Val1070Glu)
c.3155T>A (p.Val1052Glu)
c.2975T>A (p.Val992Glu)
c.2924T>A (p.Val975Glu)
c.3602T>A (p.Val1201Glu)
c.3251T>A (p.Val1084Glu)
c.3551T>A (p.Val1184Glu)
2g.120989264T>CCA348173508GLI2c.3299T>C (p.Val1100Ala)
c.3350T>C (p.Val1117Ala)
c.*2398T>C (n.*2398T>C)
c.*2449T>C (n.*2449T>C)
c.3332T>C (p.Val1111Ala)
c.3209T>C (p.Val1070Ala)
c.3155T>C (p.Val1052Ala)
c.2975T>C (p.Val992Ala)
c.2924T>C (p.Val975Ala)
c.3602T>C (p.Val1201Ala)
c.3251T>C (p.Val1084Ala)
c.3551T>C (p.Val1184Ala)
2g.120989264T>GCA348173510GLI2c.3299T>G (p.Val1100Gly)
c.3350T>G (p.Val1117Gly)
c.*2398T>G (n.*2398T>G)
c.*2449T>G (n.*2449T>G)
c.3332T>G (p.Val1111Gly)
c.3209T>G (p.Val1070Gly)
c.3155T>G (p.Val1052Gly)
c.2975T>G (p.Val992Gly)
c.2924T>G (p.Val975Gly)
c.3602T>G (p.Val1201Gly)
c.3251T>G (p.Val1084Gly)
c.3551T>G (p.Val1184Gly)
2g.120989265G>ACA428749860GLI2c.3300G>A (p.Val1100=)
c.3351G>A (p.Val1117=)
c.*2399G>A (n.*2399G>A)
c.*2450G>A (n.*2450G>A)
c.3333G>A (p.Val1111=)
c.3210G>A (p.Val1070=)
c.3156G>A (p.Val1052=)
c.2976G>A (p.Val992=)
c.2925G>A (p.Val975=)
c.3603G>A (p.Val1201=)
c.3252G>A (p.Val1084=)
c.3552G>A (p.Val1184=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.120989265G>CCA428749861GLI2c.3300G>C (p.Val1100=)
c.3351G>C (p.Val1117=)
c.*2399G>C (n.*2399G>C)
c.*2450G>C (n.*2450G>C)
c.3333G>C (p.Val1111=)
c.3210G>C (p.Val1070=)
c.3156G>C (p.Val1052=)
c.2976G>C (p.Val992=)
c.2925G>C (p.Val975=)
c.3603G>C (p.Val1201=)
c.3252G>C (p.Val1084=)
c.3552G>C (p.Val1184=)
 dbSNP gnomAD v4
2g.120989265G=CA1283795558GLI2c.3300G= (p.Val1100=)
c.3351G= (p.Val1117=)
c.*2399G= (n.*2399G=)
c.*2450G= (n.*2450G=)
c.3333G= (p.Val1111=)
c.3210G= (p.Val1070=)
c.3156G= (p.Val1052=)
c.2976G= (p.Val992=)
c.2925G= (p.Val975=)
c.3603G= (p.Val1201=)
c.3252G= (p.Val1084=)
c.3552G= (p.Val1184=)
2g.120989265G>TCA428749862GLI2c.3300G>T (p.Val1100=)
c.3351G>T (p.Val1117=)
c.*2399G>T (n.*2399G>T)
c.*2450G>T (n.*2450G>T)
c.3333G>T (p.Val1111=)
c.3210G>T (p.Val1070=)
c.3156G>T (p.Val1052=)
c.2976G>T (p.Val992=)
c.2925G>T (p.Val975=)
c.3603G>T (p.Val1201=)
c.3252G>T (p.Val1084=)
c.3552G>T (p.Val1184=)
2g.120989266G>ACA348173512GLI2c.3301G>A (p.Gly1101Ser)
c.3352G>A (p.Gly1118Ser)
c.*2400G>A (n.*2400G>A)
c.*2451G>A (n.*2451G>A)
c.3334G>A (p.Gly1112Ser)
c.3211G>A (p.Gly1071Ser)
c.3157G>A (p.Gly1053Ser)
c.2977G>A (p.Gly993Ser)
c.2926G>A (p.Gly976Ser)
c.3604G>A (p.Gly1202Ser)
c.3253G>A (p.Gly1085Ser)
c.3553G>A (p.Gly1185Ser)
2g.120989266G>CCA348173513GLI2c.3301G>C (p.Gly1101Arg)
c.3352G>C (p.Gly1118Arg)
c.*2400G>C (n.*2400G>C)
c.*2451G>C (n.*2451G>C)
c.3334G>C (p.Gly1112Arg)
c.3211G>C (p.Gly1071Arg)
c.3157G>C (p.Gly1053Arg)
c.2977G>C (p.Gly993Arg)
c.2926G>C (p.Gly976Arg)
c.3604G>C (p.Gly1202Arg)
c.3253G>C (p.Gly1085Arg)
c.3553G>C (p.Gly1185Arg)
 dbSNP gnomAD v2
2g.120989266G=CA1283795559GLI2c.3301G= (p.Gly1101=)
c.3352G= (p.Gly1118=)
c.*2400G= (n.*2400G=)
c.*2451G= (n.*2451G=)
c.3334G= (p.Gly1112=)
c.3211G= (p.Gly1071=)
c.3157G= (p.Gly1053=)
c.2977G= (p.Gly993=)
c.2926G= (p.Gly976=)
c.3604G= (p.Gly1202=)
c.3253G= (p.Gly1085=)
c.3553G= (p.Gly1185=)
2g.120989266G>TCA348173514GLI2c.3301G>T (p.Gly1101Cys)
c.3352G>T (p.Gly1118Cys)
c.*2400G>T (n.*2400G>T)
c.*2451G>T (n.*2451G>T)
c.3334G>T (p.Gly1112Cys)
c.3211G>T (p.Gly1071Cys)
c.3157G>T (p.Gly1053Cys)
c.2977G>T (p.Gly993Cys)
c.2926G>T (p.Gly976Cys)
c.3604G>T (p.Gly1202Cys)
c.3253G>T (p.Gly1085Cys)
c.3553G>T (p.Gly1185Cys)
2g.120989267G>ACA348173515GLI2c.3302G>A (p.Gly1101Asp)
c.3353G>A (p.Gly1118Asp)
c.*2401G>A (n.*2401G>A)
c.*2452G>A (n.*2452G>A)
c.3335G>A (p.Gly1112Asp)
c.3212G>A (p.Gly1071Asp)
c.3158G>A (p.Gly1053Asp)
c.2978G>A (p.Gly993Asp)
c.2927G>A (p.Gly976Asp)
c.3605G>A (p.Gly1202Asp)
c.3254G>A (p.Gly1085Asp)
c.3554G>A (p.Gly1185Asp)
2g.120989267G>CCA348173516GLI2c.3302G>C (p.Gly1101Ala)
c.3353G>C (p.Gly1118Ala)
c.*2401G>C (n.*2401G>C)
c.*2452G>C (n.*2452G>C)
c.3335G>C (p.Gly1112Ala)
c.3212G>C (p.Gly1071Ala)
c.3158G>C (p.Gly1053Ala)
c.2978G>C (p.Gly993Ala)
c.2927G>C (p.Gly976Ala)
c.3605G>C (p.Gly1202Ala)
c.3254G>C (p.Gly1085Ala)
c.3554G>C (p.Gly1185Ala)
2g.120989267G>TCA348173517GLI2c.3302G>T (p.Gly1101Val)
c.3353G>T (p.Gly1118Val)
c.*2401G>T (n.*2401G>T)
c.*2452G>T (n.*2452G>T)
c.3335G>T (p.Gly1112Val)
c.3212G>T (p.Gly1071Val)
c.3158G>T (p.Gly1053Val)
c.2978G>T (p.Gly993Val)
c.2927G>T (p.Gly976Val)
c.3605G>T (p.Gly1202Val)
c.3254G>T (p.Gly1085Val)
c.3554G>T (p.Gly1185Val)
2g.120989268C>ACA428749863GLI2c.3303C>A (p.Gly1101=)
c.3354C>A (p.Gly1118=)
c.*2402C>A (n.*2402C>A)
c.*2453C>A (n.*2453C>A)
c.3336C>A (p.Gly1112=)
c.3213C>A (p.Gly1071=)
c.3159C>A (p.Gly1053=)
c.2979C>A (p.Gly993=)
c.2928C>A (p.Gly976=)
c.3606C>A (p.Gly1202=)
c.3255C>A (p.Gly1085=)
c.3555C>A (p.Gly1185=)
 gnomAD v4
2g.120989268C>GCA428749865GLI2c.3303C>G (p.Gly1101=)
c.3354C>G (p.Gly1118=)
c.*2402C>G (n.*2402C>G)
c.*2453C>G (n.*2453C>G)
c.3336C>G (p.Gly1112=)
c.3213C>G (p.Gly1071=)
c.3159C>G (p.Gly1053=)
c.2979C>G (p.Gly993=)
c.2928C>G (p.Gly976=)
c.3606C>G (p.Gly1202=)
c.3255C>G (p.Gly1085=)
c.3555C>G (p.Gly1185=)
2g.120989268C>TCA428749864GLI2c.3303C>T (p.Gly1101=)
c.3354C>T (p.Gly1118=)
c.*2402C>T (n.*2402C>T)
c.*2453C>T (n.*2453C>T)
c.3336C>T (p.Gly1112=)
c.3213C>T (p.Gly1071=)
c.3159C>T (p.Gly1053=)
c.2979C>T (p.Gly993=)
c.2928C>T (p.Gly976=)
c.3606C>T (p.Gly1202=)
c.3255C>T (p.Gly1085=)
c.3555C>T (p.Gly1185=)
 COSMIC
2g.120989269C>ACA348173520GLI2c.3304C>A (p.Pro1102Thr)
c.3355C>A (p.Pro1119Thr)
c.*2403C>A (n.*2403C>A)
c.*2454C>A (n.*2454C>A)
c.3337C>A (p.Pro1113Thr)
c.3214C>A (p.Pro1072Thr)
c.3160C>A (p.Pro1054Thr)
c.2980C>A (p.Pro994Thr)
c.2929C>A (p.Pro977Thr)
c.3607C>A (p.Pro1203Thr)
c.3256C>A (p.Pro1086Thr)
c.3556C>A (p.Pro1186Thr)
2g.120989269C>GCA348173525GLI2c.3304C>G (p.Pro1102Ala)
c.3355C>G (p.Pro1119Ala)
c.*2403C>G (n.*2403C>G)
c.*2454C>G (n.*2454C>G)
c.3337C>G (p.Pro1113Ala)
c.3214C>G (p.Pro1072Ala)
c.3160C>G (p.Pro1054Ala)
c.2980C>G (p.Pro994Ala)
c.2929C>G (p.Pro977Ala)
c.3607C>G (p.Pro1203Ala)
c.3256C>G (p.Pro1086Ala)
c.3556C>G (p.Pro1186Ala)
2g.120989269C>TCA348173522GLI2c.3304C>T (p.Pro1102Ser)
c.3355C>T (p.Pro1119Ser)
c.*2403C>T (n.*2403C>T)
c.*2454C>T (n.*2454C>T)
c.3337C>T (p.Pro1113Ser)
c.3214C>T (p.Pro1072Ser)
c.3160C>T (p.Pro1054Ser)
c.2980C>T (p.Pro994Ser)
c.2929C>T (p.Pro977Ser)
c.3607C>T (p.Pro1203Ser)
c.3256C>T (p.Pro1086Ser)
c.3556C>T (p.Pro1186Ser)
2g.120989270C>ACA348173527GLI2c.3305C>A (p.Pro1102His)
c.3356C>A (p.Pro1119His)
c.*2404C>A (n.*2404C>A)
c.*2455C>A (n.*2455C>A)
c.3338C>A (p.Pro1113His)
c.3215C>A (p.Pro1072His)
c.3161C>A (p.Pro1054His)
c.2981C>A (p.Pro994His)
c.2930C>A (p.Pro977His)
c.3608C>A (p.Pro1203His)
c.3257C>A (p.Pro1086His)
c.3557C>A (p.Pro1186His)
2g.120989270C>GCA348173535GLI2c.3305C>G (p.Pro1102Arg)
c.3356C>G (p.Pro1119Arg)
c.*2404C>G (n.*2404C>G)
c.*2455C>G (n.*2455C>G)
c.3338C>G (p.Pro1113Arg)
c.3215C>G (p.Pro1072Arg)
c.3161C>G (p.Pro1054Arg)
c.2981C>G (p.Pro994Arg)
c.2930C>G (p.Pro977Arg)
c.3608C>G (p.Pro1203Arg)
c.3257C>G (p.Pro1086Arg)
c.3557C>G (p.Pro1186Arg)
2g.120989270C>TCA348173536GLI2c.3305C>T (p.Pro1102Leu)
c.3356C>T (p.Pro1119Leu)
c.*2404C>T (n.*2404C>T)
c.*2455C>T (n.*2455C>T)
c.3338C>T (p.Pro1113Leu)
c.3215C>T (p.Pro1072Leu)
c.3161C>T (p.Pro1054Leu)
c.2981C>T (p.Pro994Leu)
c.2930C>T (p.Pro977Leu)
c.3608C>T (p.Pro1203Leu)
c.3257C>T (p.Pro1086Leu)
c.3557C>T (p.Pro1186Leu)
2g.120989271C>ACA428749866GLI2c.3306C>A (p.Pro1102=)
c.3357C>A (p.Pro1119=)
c.*2405C>A (n.*2405C>A)
c.*2456C>A (n.*2456C>A)
c.3339C>A (p.Pro1113=)
c.3216C>A (p.Pro1072=)
c.3162C>A (p.Pro1054=)
c.2982C>A (p.Pro994=)
c.2931C>A (p.Pro977=)
c.3609C>A (p.Pro1203=)
c.3258C>A (p.Pro1086=)
c.3558C>A (p.Pro1186=)
2g.120989271C>GCA428749867GLI2c.3306C>G (p.Pro1102=)
c.3357C>G (p.Pro1119=)
c.*2405C>G (n.*2405C>G)
c.*2456C>G (n.*2456C>G)
c.3339C>G (p.Pro1113=)
c.3216C>G (p.Pro1072=)
c.3162C>G (p.Pro1054=)
c.2982C>G (p.Pro994=)
c.2931C>G (p.Pro977=)
c.3609C>G (p.Pro1203=)
c.3258C>G (p.Pro1086=)
c.3558C>G (p.Pro1186=)
2g.120989271C>TCA428749868GLI2c.3306C>T (p.Pro1102=)
c.3357C>T (p.Pro1119=)
c.*2405C>T (n.*2405C>T)
c.*2456C>T (n.*2456C>T)
c.3339C>T (p.Pro1113=)
c.3216C>T (p.Pro1072=)
c.3162C>T (p.Pro1054=)
c.2982C>T (p.Pro994=)
c.2931C>T (p.Pro977=)
c.3609C>T (p.Pro1203=)
c.3258C>T (p.Pro1086=)
c.3558C>T (p.Pro1186=)
 dbSNP
2g.120989272T>ACA348173537GLI2c.3307T>A (p.Ser1103Thr)
c.3358T>A (p.Ser1120Thr)
c.*2406T>A (n.*2406T>A)
c.*2457T>A (n.*2457T>A)
c.3340T>A (p.Ser1114Thr)
c.3217T>A (p.Ser1073Thr)
c.3163T>A (p.Ser1055Thr)
c.2983T>A (p.Ser995Thr)
c.2932T>A (p.Ser978Thr)
c.3610T>A (p.Ser1204Thr)
c.3259T>A (p.Ser1087Thr)
c.3559T>A (p.Ser1187Thr)
2g.120989272T>CCA348173538GLI2c.3307T>C (p.Ser1103Pro)
c.3358T>C (p.Ser1120Pro)
c.*2406T>C (n.*2406T>C)
c.*2457T>C (n.*2457T>C)
c.3340T>C (p.Ser1114Pro)
c.3217T>C (p.Ser1073Pro)
c.3163T>C (p.Ser1055Pro)
c.2983T>C (p.Ser995Pro)
c.2932T>C (p.Ser978Pro)
c.3610T>C (p.Ser1204Pro)
c.3259T>C (p.Ser1087Pro)
c.3559T>C (p.Ser1187Pro)
 ClinVar dbSNP gnomAD v4
2g.120989272T>GCA348173539GLI2c.3307T>G (p.Ser1103Ala)
c.3358T>G (p.Ser1120Ala)
c.*2406T>G (n.*2406T>G)
c.*2457T>G (n.*2457T>G)
c.3340T>G (p.Ser1114Ala)
c.3217T>G (p.Ser1073Ala)
c.3163T>G (p.Ser1055Ala)
c.2983T>G (p.Ser995Ala)
c.2932T>G (p.Ser978Ala)
c.3610T>G (p.Ser1204Ala)
c.3259T>G (p.Ser1087Ala)
c.3559T>G (p.Ser1187Ala)
2g.120989272T=CA1283795560GLI2c.3307T= (p.Ser1103=)
c.3358T= (p.Ser1120=)
c.*2406T= (n.*2406T=)
c.*2457T= (n.*2457T=)
c.3340T= (p.Ser1114=)
c.3217T= (p.Ser1073=)
c.3163T= (p.Ser1055=)
c.2983T= (p.Ser995=)
c.2932T= (p.Ser978=)
c.3610T= (p.Ser1204=)
c.3259T= (p.Ser1087=)
c.3559T= (p.Ser1187=)
2g.120989273C>ACA348173540GLI2c.3308C>A (p.Ser1103Tyr)
c.3359C>A (p.Ser1120Tyr)
c.*2407C>A (n.*2407C>A)
c.*2458C>A (n.*2458C>A)
c.3341C>A (p.Ser1114Tyr)
c.3218C>A (p.Ser1073Tyr)
c.3164C>A (p.Ser1055Tyr)
c.2984C>A (p.Ser995Tyr)
c.2933C>A (p.Ser978Tyr)
c.3611C>A (p.Ser1204Tyr)
c.3260C>A (p.Ser1087Tyr)
c.3560C>A (p.Ser1187Tyr)
2g.120989273C=CA1283795561GLI2c.3308C= (p.Ser1103=)
c.3359C= (p.Ser1120=)
c.*2407C= (n.*2407C=)
c.*2458C= (n.*2458C=)
c.3341C= (p.Ser1114=)
c.3218C= (p.Ser1073=)
c.3164C= (p.Ser1055=)
c.2984C= (p.Ser995=)
c.2933C= (p.Ser978=)
c.3611C= (p.Ser1204=)
c.3260C= (p.Ser1087=)
c.3560C= (p.Ser1187=)
2g.120989273C>GCA348173542GLI2c.3308C>G (p.Ser1103Cys)
c.3359C>G (p.Ser1120Cys)
c.*2407C>G (n.*2407C>G)
c.*2458C>G (n.*2458C>G)
c.3341C>G (p.Ser1114Cys)
c.3218C>G (p.Ser1073Cys)
c.3164C>G (p.Ser1055Cys)
c.2984C>G (p.Ser995Cys)
c.2933C>G (p.Ser978Cys)
c.3611C>G (p.Ser1204Cys)
c.3260C>G (p.Ser1087Cys)
c.3560C>G (p.Ser1187Cys)
2g.120989273C>TCA54384251GLI2c.3308C>T (p.Ser1103Phe)
c.3359C>T (p.Ser1120Phe)
c.*2407C>T (n.*2407C>T)
c.*2458C>T (n.*2458C>T)
c.3341C>T (p.Ser1114Phe)
c.3218C>T (p.Ser1073Phe)
c.3164C>T (p.Ser1055Phe)
c.2984C>T (p.Ser995Phe)
c.2933C>T (p.Ser978Phe)
c.3611C>T (p.Ser1204Phe)
c.3260C>T (p.Ser1087Phe)
c.3560C>T (p.Ser1187Phe)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.120989274C>ACA428749869GLI2c.3309C>A (p.Ser1103=)
c.3360C>A (p.Ser1120=)
c.*2408C>A (n.*2408C>A)
c.*2459C>A (n.*2459C>A)
c.3342C>A (p.Ser1114=)
c.3219C>A (p.Ser1073=)
c.3165C>A (p.Ser1055=)
c.2985C>A (p.Ser995=)
c.2934C>A (p.Ser978=)
c.3612C>A (p.Ser1204=)
c.3261C>A (p.Ser1087=)
c.3561C>A (p.Ser1187=)
2g.120989274C=CA1283795562GLI2c.3309C= (p.Ser1103=)
c.3360C= (p.Ser1120=)
c.*2408C= (n.*2408C=)
c.*2459C= (n.*2459C=)
c.3342C= (p.Ser1114=)
c.3219C= (p.Ser1073=)
c.3165C= (p.Ser1055=)
c.2985C= (p.Ser995=)
c.2934C= (p.Ser978=)
c.3612C= (p.Ser1204=)
c.3261C= (p.Ser1087=)
c.3561C= (p.Ser1187=)
2g.120989274C>GCA428749870GLI2c.3309C>G (p.Ser1103=)
c.3360C>G (p.Ser1120=)
c.*2408C>G (n.*2408C>G)
c.*2459C>G (n.*2459C>G)
c.3342C>G (p.Ser1114=)
c.3219C>G (p.Ser1073=)
c.3165C>G (p.Ser1055=)
c.2985C>G (p.Ser995=)
c.2934C>G (p.Ser978=)
c.3612C>G (p.Ser1204=)
c.3261C>G (p.Ser1087=)
c.3561C>G (p.Ser1187=)
2g.120989274C>TCA1852370GLI2c.3309C>T (p.Ser1103=)
c.3360C>T (p.Ser1120=)
c.*2408C>T (n.*2408C>T)
c.*2459C>T (n.*2459C>T)
c.3342C>T (p.Ser1114=)
c.3219C>T (p.Ser1073=)
c.3165C>T (p.Ser1055=)
c.2985C>T (p.Ser995=)
c.2934C>T (p.Ser978=)
c.3612C>T (p.Ser1204=)
c.3261C>T (p.Ser1087=)
c.3561C>T (p.Ser1187=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989275G>ACA1852372GLI2c.3310G>A (p.Ala1104Thr)
c.3361G>A (p.Ala1121Thr)
c.*2409G>A (n.*2409G>A)
c.*2460G>A (n.*2460G>A)
c.3343G>A (p.Ala1115Thr)
c.3220G>A (p.Ala1074Thr)
c.3166G>A (p.Ala1056Thr)
c.2986G>A (p.Ala996Thr)
c.2935G>A (p.Ala979Thr)
c.3613G>A (p.Ala1205Thr)
c.3262G>A (p.Ala1088Thr)
c.3562G>A (p.Ala1188Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989275G>CCA1852371GLI2c.3310G>C (p.Ala1104Pro)
c.3361G>C (p.Ala1121Pro)
c.*2409G>C (n.*2409G>C)
c.*2460G>C (n.*2460G>C)
c.3343G>C (p.Ala1115Pro)
c.3220G>C (p.Ala1074Pro)
c.3166G>C (p.Ala1056Pro)
c.2986G>C (p.Ala996Pro)
c.2935G>C (p.Ala979Pro)
c.3613G>C (p.Ala1205Pro)
c.3262G>C (p.Ala1088Pro)
c.3562G>C (p.Ala1188Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989275G=CA1283795563GLI2c.3310G= (p.Ala1104=)
c.3361G= (p.Ala1121=)
c.*2409G= (n.*2409G=)
c.*2460G= (n.*2460G=)
c.3343G= (p.Ala1115=)
c.3220G= (p.Ala1074=)
c.3166G= (p.Ala1056=)
c.2986G= (p.Ala996=)
c.2935G= (p.Ala979=)
c.3613G= (p.Ala1205=)
c.3262G= (p.Ala1088=)
c.3562G= (p.Ala1188=)
2g.120989275G>TCA348173544GLI2c.3310G>T (p.Ala1104Ser)
c.3361G>T (p.Ala1121Ser)
c.*2409G>T (n.*2409G>T)
c.*2460G>T (n.*2460G>T)
c.3343G>T (p.Ala1115Ser)
c.3220G>T (p.Ala1074Ser)
c.3166G>T (p.Ala1056Ser)
c.2986G>T (p.Ala996Ser)
c.2935G>T (p.Ala979Ser)
c.3613G>T (p.Ala1205Ser)
c.3262G>T (p.Ala1088Ser)
c.3562G>T (p.Ala1188Ser)
2g.120989276C>ACA348173553GLI2c.3311C>A (p.Ala1104Asp)
c.3362C>A (p.Ala1121Asp)
c.*2410C>A (n.*2410C>A)
c.*2461C>A (n.*2461C>A)
c.3344C>A (p.Ala1115Asp)
c.3221C>A (p.Ala1074Asp)
c.3167C>A (p.Ala1056Asp)
c.2987C>A (p.Ala996Asp)
c.2936C>A (p.Ala979Asp)
c.3614C>A (p.Ala1205Asp)
c.3263C>A (p.Ala1088Asp)
c.3563C>A (p.Ala1188Asp)
2g.120989276C=CA1283795564GLI2c.3311C= (p.Ala1104=)
c.3362C= (p.Ala1121=)
c.*2410C= (n.*2410C=)
c.*2461C= (n.*2461C=)
c.3344C= (p.Ala1115=)
c.3221C= (p.Ala1074=)
c.3167C= (p.Ala1056=)
c.2987C= (p.Ala996=)
c.2936C= (p.Ala979=)
c.3614C= (p.Ala1205=)
c.3263C= (p.Ala1088=)
c.3563C= (p.Ala1188=)
2g.120989276C>GCA348173555GLI2c.3311C>G (p.Ala1104Gly)
c.3362C>G (p.Ala1121Gly)
c.*2410C>G (n.*2410C>G)
c.*2461C>G (n.*2461C>G)
c.3344C>G (p.Ala1115Gly)
c.3221C>G (p.Ala1074Gly)
c.3167C>G (p.Ala1056Gly)
c.2987C>G (p.Ala996Gly)
c.2936C>G (p.Ala979Gly)
c.3614C>G (p.Ala1205Gly)
c.3263C>G (p.Ala1088Gly)
c.3563C>G (p.Ala1188Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.120989276C>TCA1852373GLI2c.3311C>T (p.Ala1104Val)
c.3362C>T (p.Ala1121Val)
c.*2410C>T (n.*2410C>T)
c.*2461C>T (n.*2461C>T)
c.3344C>T (p.Ala1115Val)
c.3221C>T (p.Ala1074Val)
c.3167C>T (p.Ala1056Val)
c.2987C>T (p.Ala996Val)
c.2936C>T (p.Ala979Val)
c.3614C>T (p.Ala1205Val)
c.3263C>T (p.Ala1088Val)
c.3563C>T (p.Ala1188Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989277C>ACA428749871GLI2c.3312C>A (p.Ala1104=)
c.3363C>A (p.Ala1121=)
c.*2411C>A (n.*2411C>A)
c.*2462C>A (n.*2462C>A)
c.3345C>A (p.Ala1115=)
c.3222C>A (p.Ala1074=)
c.3168C>A (p.Ala1056=)
c.2988C>A (p.Ala996=)
c.2937C>A (p.Ala979=)
c.3615C>A (p.Ala1205=)
c.3264C>A (p.Ala1088=)
c.3564C>A (p.Ala1188=)
2g.120989277C=CA1283795565GLI2c.3312C= (p.Ala1104=)
c.3363C= (p.Ala1121=)
c.*2411C= (n.*2411C=)
c.*2462C= (n.*2462C=)
c.3345C= (p.Ala1115=)
c.3222C= (p.Ala1074=)
c.3168C= (p.Ala1056=)
c.2988C= (p.Ala996=)
c.2937C= (p.Ala979=)
c.3615C= (p.Ala1205=)
c.3264C= (p.Ala1088=)
c.3564C= (p.Ala1188=)
2g.120989277C>GCA428749872GLI2c.3312C>G (p.Ala1104=)
c.3363C>G (p.Ala1121=)
c.*2411C>G (n.*2411C>G)
c.*2462C>G (n.*2462C>G)
c.3345C>G (p.Ala1115=)
c.3222C>G (p.Ala1074=)
c.3168C>G (p.Ala1056=)
c.2988C>G (p.Ala996=)
c.2937C>G (p.Ala979=)
c.3615C>G (p.Ala1205=)
c.3264C>G (p.Ala1088=)
c.3564C>G (p.Ala1188=)
2g.120989277C>TCA428749873GLI2c.3312C>T (p.Ala1104=)
c.3363C>T (p.Ala1121=)
c.*2411C>T (n.*2411C>T)
c.*2462C>T (n.*2462C>T)
c.3345C>T (p.Ala1115=)
c.3222C>T (p.Ala1074=)
c.3168C>T (p.Ala1056=)
c.2988C>T (p.Ala996=)
c.2937C>T (p.Ala979=)
c.3615C>T (p.Ala1205=)
c.3264C>T (p.Ala1088=)
c.3564C>T (p.Ala1188=)
 dbSNP gnomAD v4
2g.120989278C>ACA348173558GLI2c.3313C>A (p.Pro1105Thr)
c.3364C>A (p.Pro1122Thr)
c.*2412C>A (n.*2412C>A)
c.*2463C>A (n.*2463C>A)
c.3346C>A (p.Pro1116Thr)
c.3223C>A (p.Pro1075Thr)
c.3169C>A (p.Pro1057Thr)
c.2989C>A (p.Pro997Thr)
c.2938C>A (p.Pro980Thr)
c.3616C>A (p.Pro1206Thr)
c.3265C>A (p.Pro1089Thr)
c.3565C>A (p.Pro1189Thr)
2g.120989278C=CA1283795566GLI2c.3313C= (p.Pro1105=)
c.3364C= (p.Pro1122=)
c.*2412C= (n.*2412C=)
c.*2463C= (n.*2463C=)
c.3346C= (p.Pro1116=)
c.3223C= (p.Pro1075=)
c.3169C= (p.Pro1057=)
c.2989C= (p.Pro997=)
c.2938C= (p.Pro980=)
c.3616C= (p.Pro1206=)
c.3265C= (p.Pro1089=)
c.3565C= (p.Pro1189=)
2g.120989278C>GCA348173560GLI2c.3313C>G (p.Pro1105Ala)
c.3364C>G (p.Pro1122Ala)
c.*2412C>G (n.*2412C>G)
c.*2463C>G (n.*2463C>G)
c.3346C>G (p.Pro1116Ala)
c.3223C>G (p.Pro1075Ala)
c.3169C>G (p.Pro1057Ala)
c.2989C>G (p.Pro997Ala)
c.2938C>G (p.Pro980Ala)
c.3616C>G (p.Pro1206Ala)
c.3265C>G (p.Pro1089Ala)
c.3565C>G (p.Pro1189Ala)
2g.120989278C>TCA1852374GLI2c.3313C>T (p.Pro1105Ser)
c.3364C>T (p.Pro1122Ser)
c.*2412C>T (n.*2412C>T)
c.*2463C>T (n.*2463C>T)
c.3346C>T (p.Pro1116Ser)
c.3223C>T (p.Pro1075Ser)
c.3169C>T (p.Pro1057Ser)
c.2989C>T (p.Pro997Ser)
c.2938C>T (p.Pro980Ser)
c.3616C>T (p.Pro1206Ser)
c.3265C>T (p.Pro1089Ser)
c.3565C>T (p.Pro1189Ser)
 dbSNP ExAC gnomAD v4
2g.120989279C>ACA348173564GLI2c.3314C>A (p.Pro1105His)
c.3365C>A (p.Pro1122His)
c.*2413C>A (n.*2413C>A)
c.*2464C>A (n.*2464C>A)
c.3347C>A (p.Pro1116His)
c.3224C>A (p.Pro1075His)
c.3170C>A (p.Pro1057His)
c.2990C>A (p.Pro997His)
c.2939C>A (p.Pro980His)
c.3617C>A (p.Pro1206His)
c.3266C>A (p.Pro1089His)
c.3566C>A (p.Pro1189His)
2g.120989279C=CA1283795567GLI2c.3314C= (p.Pro1105=)
c.3365C= (p.Pro1122=)
c.*2413C= (n.*2413C=)
c.*2464C= (n.*2464C=)
c.3347C= (p.Pro1116=)
c.3224C= (p.Pro1075=)
c.3170C= (p.Pro1057=)
c.2990C= (p.Pro997=)
c.2939C= (p.Pro980=)
c.3617C= (p.Pro1206=)
c.3266C= (p.Pro1089=)
c.3566C= (p.Pro1189=)
2g.120989279C>GCA348173566GLI2c.3314C>G (p.Pro1105Arg)
c.3365C>G (p.Pro1122Arg)
c.*2413C>G (n.*2413C>G)
c.*2464C>G (n.*2464C>G)
c.3347C>G (p.Pro1116Arg)
c.3224C>G (p.Pro1075Arg)
c.3170C>G (p.Pro1057Arg)
c.2990C>G (p.Pro997Arg)
c.2939C>G (p.Pro980Arg)
c.3617C>G (p.Pro1206Arg)
c.3266C>G (p.Pro1089Arg)
c.3566C>G (p.Pro1189Arg)
2g.120989279C>TCA348173568GLI2c.3314C>T (p.Pro1105Leu)
c.3365C>T (p.Pro1122Leu)
c.*2413C>T (n.*2413C>T)
c.*2464C>T (n.*2464C>T)
c.3347C>T (p.Pro1116Leu)
c.3224C>T (p.Pro1075Leu)
c.3170C>T (p.Pro1057Leu)
c.2990C>T (p.Pro997Leu)
c.2939C>T (p.Pro980Leu)
c.3617C>T (p.Pro1206Leu)
c.3266C>T (p.Pro1089Leu)
c.3566C>T (p.Pro1189Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.120989280T>ACA428749874GLI2c.3315T>A (p.Pro1105=)
c.3366T>A (p.Pro1122=)
c.*2414T>A (n.*2414T>A)
c.*2465T>A (n.*2465T>A)
c.3348T>A (p.Pro1116=)
c.3225T>A (p.Pro1075=)
c.3171T>A (p.Pro1057=)
c.2991T>A (p.Pro997=)
c.2940T>A (p.Pro980=)
c.3618T>A (p.Pro1206=)
c.3267T>A (p.Pro1089=)
c.3567T>A (p.Pro1189=)
2g.120989280T>CCA428749876GLI2c.3315T>C (p.Pro1105=)
c.3366T>C (p.Pro1122=)
c.*2414T>C (n.*2414T>C)
c.*2465T>C (n.*2465T>C)
c.3348T>C (p.Pro1116=)
c.3225T>C (p.Pro1075=)
c.3171T>C (p.Pro1057=)
c.2991T>C (p.Pro997=)
c.2940T>C (p.Pro980=)
c.3618T>C (p.Pro1206=)
c.3267T>C (p.Pro1089=)
c.3567T>C (p.Pro1189=)
2g.120989280T>GCA428749875GLI2c.3315T>G (p.Pro1105=)
c.3366T>G (p.Pro1122=)
c.*2414T>G (n.*2414T>G)
c.*2465T>G (n.*2465T>G)
c.3348T>G (p.Pro1116=)
c.3225T>G (p.Pro1075=)
c.3171T>G (p.Pro1057=)
c.2991T>G (p.Pro997=)
c.2940T>G (p.Pro980=)
c.3618T>G (p.Pro1206=)
c.3267T>G (p.Pro1089=)
c.3567T>G (p.Pro1189=)
2g.120989281A=CA1283795568GLI2c.3316A= (p.Met1106=)
c.3367A= (p.Met1123=)
c.*2415A= (n.*2415A=)
c.*2466A= (n.*2466A=)
c.3349A= (p.Met1117=)
c.3226A= (p.Met1076=)
c.3172A= (p.Met1058=)
c.2992A= (p.Met998=)
c.2941A= (p.Met981=)
c.3619A= (p.Met1207=)
c.3268A= (p.Met1090=)
c.3568A= (p.Met1190=)
2g.120989281A>CCA348173571GLI2c.3316A>C (p.Met1106Leu)
c.3367A>C (p.Met1123Leu)
c.*2415A>C (n.*2415A>C)
c.*2466A>C (n.*2466A>C)
c.3349A>C (p.Met1117Leu)
c.3226A>C (p.Met1076Leu)
c.3172A>C (p.Met1058Leu)
c.2992A>C (p.Met998Leu)
c.2941A>C (p.Met981Leu)
c.3619A>C (p.Met1207Leu)
c.3268A>C (p.Met1090Leu)
c.3568A>C (p.Met1190Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.120989281A>GCA348173573GLI2c.3316A>G (p.Met1106Val)
c.3367A>G (p.Met1123Val)
c.*2415A>G (n.*2415A>G)
c.*2466A>G (n.*2466A>G)
c.3349A>G (p.Met1117Val)
c.3226A>G (p.Met1076Val)
c.3172A>G (p.Met1058Val)
c.2992A>G (p.Met998Val)
c.2941A>G (p.Met981Val)
c.3619A>G (p.Met1207Val)
c.3268A>G (p.Met1090Val)
c.3568A>G (p.Met1190Val)
2g.120989281A>TCA348173575GLI2c.3316A>T (p.Met1106Leu)
c.3367A>T (p.Met1123Leu)
c.*2415A>T (n.*2415A>T)
c.*2466A>T (n.*2466A>T)
c.3349A>T (p.Met1117Leu)
c.3226A>T (p.Met1076Leu)
c.3172A>T (p.Met1058Leu)
c.2992A>T (p.Met998Leu)
c.2941A>T (p.Met981Leu)
c.3619A>T (p.Met1207Leu)
c.3268A>T (p.Met1090Leu)
c.3568A>T (p.Met1190Leu)
 dbSNP
2g.120989282T>ACA348173580GLI2c.3317T>A (p.Met1106Lys)
c.3368T>A (p.Met1123Lys)
c.*2416T>A (n.*2416T>A)
c.*2467T>A (n.*2467T>A)
c.3350T>A (p.Met1117Lys)
c.3227T>A (p.Met1076Lys)
c.3173T>A (p.Met1058Lys)
c.2993T>A (p.Met998Lys)
c.2942T>A (p.Met981Lys)
c.3620T>A (p.Met1207Lys)
c.3269T>A (p.Met1090Lys)
c.3569T>A (p.Met1190Lys)
 dbSNP
2g.120989282T>CCA348173581GLI2c.3317T>C (p.Met1106Thr)
c.3368T>C (p.Met1123Thr)
c.*2416T>C (n.*2416T>C)
c.*2467T>C (n.*2467T>C)
c.3350T>C (p.Met1117Thr)
c.3227T>C (p.Met1076Thr)
c.3173T>C (p.Met1058Thr)
c.2993T>C (p.Met998Thr)
c.2942T>C (p.Met981Thr)
c.3620T>C (p.Met1207Thr)
c.3269T>C (p.Met1090Thr)
c.3569T>C (p.Met1190Thr)
2g.120989282T>GCA1852375GLI2c.3317T>G (p.Met1106Arg)
c.3368T>G (p.Met1123Arg)
c.*2416T>G (n.*2416T>G)
c.*2467T>G (n.*2467T>G)
c.3350T>G (p.Met1117Arg)
c.3227T>G (p.Met1076Arg)
c.3173T>G (p.Met1058Arg)
c.2993T>G (p.Met998Arg)
c.2942T>G (p.Met981Arg)
c.3620T>G (p.Met1207Arg)
c.3269T>G (p.Met1090Arg)
c.3569T>G (p.Met1190Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989282T=CA1283795569GLI2c.3317T= (p.Met1106=)
c.3368T= (p.Met1123=)
c.*2416T= (n.*2416T=)
c.*2467T= (n.*2467T=)
c.3350T= (p.Met1117=)
c.3227T= (p.Met1076=)
c.3173T= (p.Met1058=)
c.2993T= (p.Met998=)
c.2942T= (p.Met981=)
c.3620T= (p.Met1207=)
c.3269T= (p.Met1090=)
c.3569T= (p.Met1190=)

Number of alleles fetched