Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.120989066_120989086dupCA2660922223GLI2c.3101_3121dup (p.Glu1040_Asp1041insAlaAspLeuGlyLeuProGlu)
c.3152_3172dup (p.Glu1057_Asp1058insAlaAspLeuGlyLeuProGlu)
c.*2200_*2220dup (n.*2200_*2220dup)
c.*2251_*2271dup (n.*2251_*2271dup)
c.3134_3154dup (p.Glu1051_Asp1052insAlaAspLeuGlyLeuProGlu)
c.3011_3031dup (p.Glu1010_Asp1011insAlaAspLeuGlyLeuProGlu)
c.2957_2977dup (p.Glu992_Asp993insAlaAspLeuGlyLeuProGlu)
c.2777_2797dup (p.Glu932_Asp933insAlaAspLeuGlyLeuProGlu)
c.2726_2746dup (p.Glu915_Asp916insAlaAspLeuGlyLeuProGlu)
c.3404_3424dup (p.Glu1141_Asp1142insAlaAspLeuGlyLeuProGlu)
c.3053_3073dup (p.Glu1024_Asp1025insAlaAspLeuGlyLeuProGlu)
c.3353_3373dup (p.Glu1124_Asp1125insAlaAspLeuGlyLeuProGlu)
 gnomAD v4
2g.120989066_120989086delCA2660922224GLI2c.3101_3121del (p.Ala1034_Glu1040del)
c.3152_3172del (p.Ala1051_Glu1057del)
c.*2200_*2220del (n.*2200_*2220del)
c.*2251_*2271del (n.*2251_*2271del)
c.3134_3154del (p.Ala1045_Glu1051del)
c.3011_3031del (p.Ala1004_Glu1010del)
c.2957_2977del (p.Ala986_Glu992del)
c.2777_2797del (p.Ala926_Glu932del)
c.2726_2746del (p.Ala909_Glu915del)
c.3404_3424del (p.Ala1135_Glu1141del)
c.3053_3073del (p.Ala1018_Glu1024del)
c.3353_3373del (p.Ala1118_Glu1124del)
 gnomAD v4
2g.120989075_120989095delCA2660922225GLI2c.3110_3130del (p.Gly1037_Leu1043del)
c.3161_3181del (p.Gly1054_Leu1060del)
c.*2209_*2229del (n.*2209_*2229del)
c.*2260_*2280del (n.*2260_*2280del)
c.3143_3163del (p.Gly1048_Leu1054del)
c.3020_3040del (p.Gly1007_Leu1013del)
c.2966_2986del (p.Gly989_Leu995del)
c.2786_2806del (p.Gly929_Leu935del)
c.2735_2755del (p.Gly912_Leu918del)
c.3413_3433del (p.Gly1138_Leu1144del)
c.3062_3082del (p.Gly1021_Leu1027del)
c.3362_3382del (p.Gly1121_Leu1127del)
 gnomAD v4
2g.120989078T>ACA348172488GLI2c.3113T>A (p.Leu1038Gln)
c.3164T>A (p.Leu1055Gln)
c.*2212T>A (n.*2212T>A)
c.*2263T>A (n.*2263T>A)
c.3146T>A (p.Leu1049Gln)
c.3023T>A (p.Leu1008Gln)
c.2969T>A (p.Leu990Gln)
c.2789T>A (p.Leu930Gln)
c.2738T>A (p.Leu913Gln)
c.3416T>A (p.Leu1139Gln)
c.3065T>A (p.Leu1022Gln)
c.3365T>A (p.Leu1122Gln)
2g.120989078T>CCA348172491GLI2c.3113T>C (p.Leu1038Pro)
c.3164T>C (p.Leu1055Pro)
c.*2212T>C (n.*2212T>C)
c.*2263T>C (n.*2263T>C)
c.3146T>C (p.Leu1049Pro)
c.3023T>C (p.Leu1008Pro)
c.2969T>C (p.Leu990Pro)
c.2789T>C (p.Leu930Pro)
c.2738T>C (p.Leu913Pro)
c.3416T>C (p.Leu1139Pro)
c.3065T>C (p.Leu1022Pro)
c.3365T>C (p.Leu1122Pro)
 gnomAD v4
2g.120989078T>GCA348172493GLI2c.3113T>G (p.Leu1038Arg)
c.3164T>G (p.Leu1055Arg)
c.*2212T>G (n.*2212T>G)
c.*2263T>G (n.*2263T>G)
c.3146T>G (p.Leu1049Arg)
c.3023T>G (p.Leu1008Arg)
c.2969T>G (p.Leu990Arg)
c.2789T>G (p.Leu930Arg)
c.2738T>G (p.Leu913Arg)
c.3416T>G (p.Leu1139Arg)
c.3065T>G (p.Leu1022Arg)
c.3365T>G (p.Leu1122Arg)
2g.120989079G>ACA428749703GLI2c.3114G>A (p.Leu1038=)
c.3165G>A (p.Leu1055=)
c.*2213G>A (n.*2213G>A)
c.*2264G>A (n.*2264G>A)
c.3147G>A (p.Leu1049=)
c.3024G>A (p.Leu1008=)
c.2970G>A (p.Leu990=)
c.2790G>A (p.Leu930=)
c.2739G>A (p.Leu913=)
c.3417G>A (p.Leu1139=)
c.3066G>A (p.Leu1022=)
c.3366G>A (p.Leu1122=)
2g.120989079G>CCA428749704GLI2c.3114G>C (p.Leu1038=)
c.3165G>C (p.Leu1055=)
c.*2213G>C (n.*2213G>C)
c.*2264G>C (n.*2264G>C)
c.3147G>C (p.Leu1049=)
c.3024G>C (p.Leu1008=)
c.2970G>C (p.Leu990=)
c.2790G>C (p.Leu930=)
c.2739G>C (p.Leu913=)
c.3417G>C (p.Leu1139=)
c.3066G>C (p.Leu1022=)
c.3366G>C (p.Leu1122=)
2g.120989079G>TCA428749705GLI2c.3114G>T (p.Leu1038=)
c.3165G>T (p.Leu1055=)
c.*2213G>T (n.*2213G>T)
c.*2264G>T (n.*2264G>T)
c.3147G>T (p.Leu1049=)
c.3024G>T (p.Leu1008=)
c.2970G>T (p.Leu990=)
c.2790G>T (p.Leu930=)
c.2739G>T (p.Leu913=)
c.3417G>T (p.Leu1139=)
c.3066G>T (p.Leu1022=)
c.3366G>T (p.Leu1122=)
 gnomAD v4
2g.120989080C>ACA348172496GLI2c.3115C>A (p.Pro1039Thr)
c.3166C>A (p.Pro1056Thr)
c.*2214C>A (n.*2214C>A)
c.*2265C>A (n.*2265C>A)
c.3148C>A (p.Pro1050Thr)
c.3025C>A (p.Pro1009Thr)
c.2971C>A (p.Pro991Thr)
c.2791C>A (p.Pro931Thr)
c.2740C>A (p.Pro914Thr)
c.3418C>A (p.Pro1140Thr)
c.3067C>A (p.Pro1023Thr)
c.3367C>A (p.Pro1123Thr)
2g.120989080C=CA1283795452GLI2c.3115C= (p.Pro1039=)
c.3166C= (p.Pro1056=)
c.*2214C= (n.*2214C=)
c.*2265C= (n.*2265C=)
c.3148C= (p.Pro1050=)
c.3025C= (p.Pro1009=)
c.2971C= (p.Pro991=)
c.2791C= (p.Pro931=)
c.2740C= (p.Pro914=)
c.3418C= (p.Pro1140=)
c.3067C= (p.Pro1023=)
c.3367C= (p.Pro1123=)
2g.120989080C>GCA348172498GLI2c.3115C>G (p.Pro1039Ala)
c.3166C>G (p.Pro1056Ala)
c.*2214C>G (n.*2214C>G)
c.*2265C>G (n.*2265C>G)
c.3148C>G (p.Pro1050Ala)
c.3025C>G (p.Pro1009Ala)
c.2971C>G (p.Pro991Ala)
c.2791C>G (p.Pro931Ala)
c.2740C>G (p.Pro914Ala)
c.3418C>G (p.Pro1140Ala)
c.3067C>G (p.Pro1023Ala)
c.3367C>G (p.Pro1123Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.120989080C>TCA54383898GLI2c.3115C>T (p.Pro1039Ser)
c.3166C>T (p.Pro1056Ser)
c.*2214C>T (n.*2214C>T)
c.*2265C>T (n.*2265C>T)
c.3148C>T (p.Pro1050Ser)
c.3025C>T (p.Pro1009Ser)
c.2971C>T (p.Pro991Ser)
c.2791C>T (p.Pro931Ser)
c.2740C>T (p.Pro914Ser)
c.3418C>T (p.Pro1140Ser)
c.3067C>T (p.Pro1023Ser)
c.3367C>T (p.Pro1123Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989081delCA428749706GLI2c.3116del (p.Pro1039ArgfsTer?)
c.3167del (p.Pro1056ArgfsTer?)
c.*2215del (n.*2215del)
c.*2266del (n.*2266del)
c.3149del (p.Pro1050ArgfsTer?)
c.3026del (p.Pro1009ArgfsTer?)
c.2972del (p.Pro991ArgfsTer?)
c.2792del (p.Pro931ArgfsTer?)
c.2741del (p.Pro914ArgfsTer?)
c.3419del (p.Pro1140ArgfsTer?)
c.3068del (p.Pro1023ArgfsTer?)
c.3368del (p.Pro1123ArgfsTer?)
 COSMIC
2g.120989081C>ACA348172506GLI2c.3116C>A (p.Pro1039Gln)
c.3167C>A (p.Pro1056Gln)
c.*2215C>A (n.*2215C>A)
c.*2266C>A (n.*2266C>A)
c.3149C>A (p.Pro1050Gln)
c.3026C>A (p.Pro1009Gln)
c.2972C>A (p.Pro991Gln)
c.2792C>A (p.Pro931Gln)
c.2741C>A (p.Pro914Gln)
c.3419C>A (p.Pro1140Gln)
c.3068C>A (p.Pro1023Gln)
c.3368C>A (p.Pro1123Gln)
2g.120989081C=CA1283795453GLI2c.3116C= (p.Pro1039=)
c.3167C= (p.Pro1056=)
c.*2215C= (n.*2215C=)
c.*2266C= (n.*2266C=)
c.3149C= (p.Pro1050=)
c.3026C= (p.Pro1009=)
c.2972C= (p.Pro991=)
c.2792C= (p.Pro931=)
c.2741C= (p.Pro914=)
c.3419C= (p.Pro1140=)
c.3068C= (p.Pro1023=)
c.3368C= (p.Pro1123=)
2g.120989081C>GCA348172502GLI2c.3116C>G (p.Pro1039Arg)
c.3167C>G (p.Pro1056Arg)
c.*2215C>G (n.*2215C>G)
c.*2266C>G (n.*2266C>G)
c.3149C>G (p.Pro1050Arg)
c.3026C>G (p.Pro1009Arg)
c.2972C>G (p.Pro991Arg)
c.2792C>G (p.Pro931Arg)
c.2741C>G (p.Pro914Arg)
c.3419C>G (p.Pro1140Arg)
c.3068C>G (p.Pro1023Arg)
c.3368C>G (p.Pro1123Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.120989081C>TCA1852323GLI2c.3116C>T (p.Pro1039Leu)
c.3167C>T (p.Pro1056Leu)
c.*2215C>T (n.*2215C>T)
c.*2266C>T (n.*2266C>T)
c.3149C>T (p.Pro1050Leu)
c.3026C>T (p.Pro1009Leu)
c.2972C>T (p.Pro991Leu)
c.2792C>T (p.Pro931Leu)
c.2741C>T (p.Pro914Leu)
c.3419C>T (p.Pro1140Leu)
c.3068C>T (p.Pro1023Leu)
c.3368C>T (p.Pro1123Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989082G>ACA1852324GLI2c.3117G>A (p.Pro1039=)
c.3168G>A (p.Pro1056=)
c.*2216G>A (n.*2216G>A)
c.*2267G>A (n.*2267G>A)
c.3150G>A (p.Pro1050=)
c.3027G>A (p.Pro1009=)
c.2973G>A (p.Pro991=)
c.2793G>A (p.Pro931=)
c.2742G>A (p.Pro914=)
c.3420G>A (p.Pro1140=)
c.3069G>A (p.Pro1023=)
c.3369G>A (p.Pro1123=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989082G>CCA428749708GLI2c.3117G>C (p.Pro1039=)
c.3168G>C (p.Pro1056=)
c.*2216G>C (n.*2216G>C)
c.*2267G>C (n.*2267G>C)
c.3150G>C (p.Pro1050=)
c.3027G>C (p.Pro1009=)
c.2973G>C (p.Pro991=)
c.2793G>C (p.Pro931=)
c.2742G>C (p.Pro914=)
c.3420G>C (p.Pro1140=)
c.3069G>C (p.Pro1023=)
c.3369G>C (p.Pro1123=)
2g.120989082G=CA1283795454GLI2c.3117G= (p.Pro1039=)
c.3168G= (p.Pro1056=)
c.*2216G= (n.*2216G=)
c.*2267G= (n.*2267G=)
c.3150G= (p.Pro1050=)
c.3027G= (p.Pro1009=)
c.2973G= (p.Pro991=)
c.2793G= (p.Pro931=)
c.2742G= (p.Pro914=)
c.3420G= (p.Pro1140=)
c.3069G= (p.Pro1023=)
c.3369G= (p.Pro1123=)
2g.120989082G>TCA428749709GLI2c.3117G>T (p.Pro1039=)
c.3168G>T (p.Pro1056=)
c.*2216G>T (n.*2216G>T)
c.*2267G>T (n.*2267G>T)
c.3150G>T (p.Pro1050=)
c.3027G>T (p.Pro1009=)
c.2973G>T (p.Pro991=)
c.2793G>T (p.Pro931=)
c.2742G>T (p.Pro914=)
c.3420G>T (p.Pro1140=)
c.3069G>T (p.Pro1023=)
c.3369G>T (p.Pro1123=)
2g.120989083G>ACA348172509GLI2c.3118G>A (p.Glu1040Lys)
c.3169G>A (p.Glu1057Lys)
c.*2217G>A (n.*2217G>A)
c.*2268G>A (n.*2268G>A)
c.3151G>A (p.Glu1051Lys)
c.3028G>A (p.Glu1010Lys)
c.2974G>A (p.Glu992Lys)
c.2794G>A (p.Glu932Lys)
c.2743G>A (p.Glu915Lys)
c.3421G>A (p.Glu1141Lys)
c.3070G>A (p.Glu1024Lys)
c.3370G>A (p.Glu1124Lys)
 dbSNP gnomAD v2
2g.120989083G>CCA348172511GLI2c.3118G>C (p.Glu1040Gln)
c.3169G>C (p.Glu1057Gln)
c.*2217G>C (n.*2217G>C)
c.*2268G>C (n.*2268G>C)
c.3151G>C (p.Glu1051Gln)
c.3028G>C (p.Glu1010Gln)
c.2974G>C (p.Glu992Gln)
c.2794G>C (p.Glu932Gln)
c.2743G>C (p.Glu915Gln)
c.3421G>C (p.Glu1141Gln)
c.3070G>C (p.Glu1024Gln)
c.3370G>C (p.Glu1124Gln)
2g.120989083G=CA1283795455GLI2c.3118G= (p.Glu1040=)
c.3169G= (p.Glu1057=)
c.*2217G= (n.*2217G=)
c.*2268G= (n.*2268G=)
c.3151G= (p.Glu1051=)
c.3028G= (p.Glu1010=)
c.2974G= (p.Glu992=)
c.2794G= (p.Glu932=)
c.2743G= (p.Glu915=)
c.3421G= (p.Glu1141=)
c.3070G= (p.Glu1024=)
c.3370G= (p.Glu1124=)
2g.120989083G>TCA348172514GLI2c.3118G>T (p.Glu1040Ter)
c.3169G>T (p.Glu1057Ter)
c.*2217G>T (n.*2217G>T)
c.*2268G>T (n.*2268G>T)
c.3151G>T (p.Glu1051Ter)
c.3028G>T (p.Glu1010Ter)
c.2974G>T (p.Glu992Ter)
c.2794G>T (p.Glu932Ter)
c.2743G>T (p.Glu915Ter)
c.3421G>T (p.Glu1141Ter)
c.3070G>T (p.Glu1024Ter)
c.3370G>T (p.Glu1124Ter)
2g.120989084A>CCA348172516GLI2c.3119A>C (p.Glu1040Ala)
c.3170A>C (p.Glu1057Ala)
c.*2218A>C (n.*2218A>C)
c.*2269A>C (n.*2269A>C)
c.3152A>C (p.Glu1051Ala)
c.3029A>C (p.Glu1010Ala)
c.2975A>C (p.Glu992Ala)
c.2795A>C (p.Glu932Ala)
c.2744A>C (p.Glu915Ala)
c.3422A>C (p.Glu1141Ala)
c.3071A>C (p.Glu1024Ala)
c.3371A>C (p.Glu1124Ala)
2g.120989084A>GCA348172520GLI2c.3119A>G (p.Glu1040Gly)
c.3170A>G (p.Glu1057Gly)
c.*2218A>G (n.*2218A>G)
c.*2269A>G (n.*2269A>G)
c.3152A>G (p.Glu1051Gly)
c.3029A>G (p.Glu1010Gly)
c.2975A>G (p.Glu992Gly)
c.2795A>G (p.Glu932Gly)
c.2744A>G (p.Glu915Gly)
c.3422A>G (p.Glu1141Gly)
c.3071A>G (p.Glu1024Gly)
c.3371A>G (p.Glu1124Gly)
2g.120989084A>TCA348172521GLI2c.3119A>T (p.Glu1040Val)
c.3170A>T (p.Glu1057Val)
c.*2218A>T (n.*2218A>T)
c.*2269A>T (n.*2269A>T)
c.3152A>T (p.Glu1051Val)
c.3029A>T (p.Glu1010Val)
c.2975A>T (p.Glu992Val)
c.2795A>T (p.Glu932Val)
c.2744A>T (p.Glu915Val)
c.3422A>T (p.Glu1141Val)
c.3071A>T (p.Glu1024Val)
c.3371A>T (p.Glu1124Val)
 COSMIC
2g.120989085G>ACA428749711GLI2c.3120G>A (p.Glu1040=)
c.3171G>A (p.Glu1057=)
c.*2219G>A (n.*2219G>A)
c.*2270G>A (n.*2270G>A)
c.3153G>A (p.Glu1051=)
c.3030G>A (p.Glu1010=)
c.2976G>A (p.Glu992=)
c.2796G>A (p.Glu932=)
c.2745G>A (p.Glu915=)
c.3423G>A (p.Glu1141=)
c.3072G>A (p.Glu1024=)
c.3372G>A (p.Glu1124=)
2g.120989085G>CCA348172523GLI2c.3120G>C (p.Glu1040Asp)
c.3171G>C (p.Glu1057Asp)
c.*2219G>C (n.*2219G>C)
c.*2270G>C (n.*2270G>C)
c.3153G>C (p.Glu1051Asp)
c.3030G>C (p.Glu1010Asp)
c.2976G>C (p.Glu992Asp)
c.2796G>C (p.Glu932Asp)
c.2745G>C (p.Glu915Asp)
c.3423G>C (p.Glu1141Asp)
c.3072G>C (p.Glu1024Asp)
c.3372G>C (p.Glu1124Asp)
 dbSNP
2g.120989085G=CA1283795456GLI2c.3120G= (p.Glu1040=)
c.3171G= (p.Glu1057=)
c.*2219G= (n.*2219G=)
c.*2270G= (n.*2270G=)
c.3153G= (p.Glu1051=)
c.3030G= (p.Glu1010=)
c.2976G= (p.Glu992=)
c.2796G= (p.Glu932=)
c.2745G= (p.Glu915=)
c.3423G= (p.Glu1141=)
c.3072G= (p.Glu1024=)
c.3372G= (p.Glu1124=)
2g.120989085G>TCA348172524GLI2c.3120G>T (p.Glu1040Asp)
c.3171G>T (p.Glu1057Asp)
c.*2219G>T (n.*2219G>T)
c.*2270G>T (n.*2270G>T)
c.3153G>T (p.Glu1051Asp)
c.3030G>T (p.Glu1010Asp)
c.2976G>T (p.Glu992Asp)
c.2796G>T (p.Glu932Asp)
c.2745G>T (p.Glu915Asp)
c.3423G>T (p.Glu1141Asp)
c.3072G>T (p.Glu1024Asp)
c.3372G>T (p.Glu1124Asp)
 COSMIC
2g.120989086G>ACA348172527GLI2c.3121G>A (p.Asp1041Asn)
c.3172G>A (p.Asp1058Asn)
c.*2220G>A (n.*2220G>A)
c.*2271G>A (n.*2271G>A)
c.3154G>A (p.Asp1052Asn)
c.3031G>A (p.Asp1011Asn)
c.2977G>A (p.Asp993Asn)
c.2797G>A (p.Asp933Asn)
c.2746G>A (p.Asp916Asn)
c.3424G>A (p.Asp1142Asn)
c.3073G>A (p.Asp1025Asn)
c.3373G>A (p.Asp1125Asn)
 gnomAD v4
2g.120989086G>CCA348172535GLI2c.3121G>C (p.Asp1041His)
c.3172G>C (p.Asp1058His)
c.*2220G>C (n.*2220G>C)
c.*2271G>C (n.*2271G>C)
c.3154G>C (p.Asp1052His)
c.3031G>C (p.Asp1011His)
c.2977G>C (p.Asp993His)
c.2797G>C (p.Asp933His)
c.2746G>C (p.Asp916His)
c.3424G>C (p.Asp1142His)
c.3073G>C (p.Asp1025His)
c.3373G>C (p.Asp1125His)
2g.120989086G>TCA348172537GLI2c.3121G>T (p.Asp1041Tyr)
c.3172G>T (p.Asp1058Tyr)
c.*2220G>T (n.*2220G>T)
c.*2271G>T (n.*2271G>T)
c.3154G>T (p.Asp1052Tyr)
c.3031G>T (p.Asp1011Tyr)
c.2977G>T (p.Asp993Tyr)
c.2797G>T (p.Asp933Tyr)
c.2746G>T (p.Asp916Tyr)
c.3424G>T (p.Asp1142Tyr)
c.3073G>T (p.Asp1025Tyr)
c.3373G>T (p.Asp1125Tyr)
 COSMIC
2g.120989090_120989110dupCA1283795457GLI2c.3125_3145dup (p.Asp1048_Val1049insAspLeuValLeuProAspAsp)
c.3176_3196dup (p.Asp1065_Val1066insAspLeuValLeuProAspAsp)
c.*2224_*2244dup (n.*2224_*2244dup)
c.*2275_*2295dup (n.*2275_*2295dup)
c.3158_3178dup (p.Asp1059_Val1060insAspLeuValLeuProAspAsp)
c.3035_3055dup (p.Asp1018_Val1019insAspLeuValLeuProAspAsp)
c.2981_3001dup (p.Asp1000_Val1001insAspLeuValLeuProAspAsp)
c.2801_2821dup (p.Asp940_Val941insAspLeuValLeuProAspAsp)
c.2750_2770dup (p.Asp923_Val924insAspLeuValLeuProAspAsp)
c.3428_3448dup (p.Asp1149_Val1150insAspLeuValLeuProAspAsp)
c.3077_3097dup (p.Asp1032_Val1033insAspLeuValLeuProAspAsp)
c.3377_3397dup (p.Asp1132_Val1133insAspLeuValLeuProAspAsp)
 dbSNP gnomAD v4
2g.120989087A>CCA348172540GLI2c.3122A>C (p.Asp1041Ala)
c.3173A>C (p.Asp1058Ala)
c.*2221A>C (n.*2221A>C)
c.*2272A>C (n.*2272A>C)
c.3155A>C (p.Asp1052Ala)
c.3032A>C (p.Asp1011Ala)
c.2978A>C (p.Asp993Ala)
c.2798A>C (p.Asp933Ala)
c.2747A>C (p.Asp916Ala)
c.3425A>C (p.Asp1142Ala)
c.3074A>C (p.Asp1025Ala)
c.3374A>C (p.Asp1125Ala)
2g.120989087A>GCA348172544GLI2c.3122A>G (p.Asp1041Gly)
c.3173A>G (p.Asp1058Gly)
c.*2221A>G (n.*2221A>G)
c.*2272A>G (n.*2272A>G)
c.3155A>G (p.Asp1052Gly)
c.3032A>G (p.Asp1011Gly)
c.2978A>G (p.Asp993Gly)
c.2798A>G (p.Asp933Gly)
c.2747A>G (p.Asp916Gly)
c.3425A>G (p.Asp1142Gly)
c.3074A>G (p.Asp1025Gly)
c.3374A>G (p.Asp1125Gly)
2g.120989087A>TCA348172542GLI2c.3122A>T (p.Asp1041Val)
c.3173A>T (p.Asp1058Val)
c.*2221A>T (n.*2221A>T)
c.*2272A>T (n.*2272A>T)
c.3155A>T (p.Asp1052Val)
c.3032A>T (p.Asp1011Val)
c.2978A>T (p.Asp993Val)
c.2798A>T (p.Asp933Val)
c.2747A>T (p.Asp916Val)
c.3425A>T (p.Asp1142Val)
c.3074A>T (p.Asp1025Val)
c.3374A>T (p.Asp1125Val)
2g.120989088C>ACA348172547GLI2c.3123C>A (p.Asp1041Glu)
c.3174C>A (p.Asp1058Glu)
c.*2222C>A (n.*2222C>A)
c.*2273C>A (n.*2273C>A)
c.3156C>A (p.Asp1052Glu)
c.3033C>A (p.Asp1011Glu)
c.2979C>A (p.Asp993Glu)
c.2799C>A (p.Asp933Glu)
c.2748C>A (p.Asp916Glu)
c.3426C>A (p.Asp1142Glu)
c.3075C>A (p.Asp1025Glu)
c.3375C>A (p.Asp1125Glu)
2g.120989088C=CA1283795458GLI2c.3123C= (p.Asp1041=)
c.3174C= (p.Asp1058=)
c.*2222C= (n.*2222C=)
c.*2273C= (n.*2273C=)
c.3156C= (p.Asp1052=)
c.3033C= (p.Asp1011=)
c.2979C= (p.Asp993=)
c.2799C= (p.Asp933=)
c.2748C= (p.Asp916=)
c.3426C= (p.Asp1142=)
c.3075C= (p.Asp1025=)
c.3375C= (p.Asp1125=)
2g.120989088C>GCA348172552GLI2c.3123C>G (p.Asp1041Glu)
c.3174C>G (p.Asp1058Glu)
c.*2222C>G (n.*2222C>G)
c.*2273C>G (n.*2273C>G)
c.3156C>G (p.Asp1052Glu)
c.3033C>G (p.Asp1011Glu)
c.2979C>G (p.Asp993Glu)
c.2799C>G (p.Asp933Glu)
c.2748C>G (p.Asp916Glu)
c.3426C>G (p.Asp1142Glu)
c.3075C>G (p.Asp1025Glu)
c.3375C>G (p.Asp1125Glu)
2g.120989088C>TCA1852325GLI2c.3123C>T (p.Asp1041=)
c.3174C>T (p.Asp1058=)
c.*2222C>T (n.*2222C>T)
c.*2273C>T (n.*2273C>T)
c.3156C>T (p.Asp1052=)
c.3033C>T (p.Asp1011=)
c.2979C>T (p.Asp993=)
c.2799C>T (p.Asp933=)
c.2748C>T (p.Asp916=)
c.3426C>T (p.Asp1142=)
c.3075C>T (p.Asp1025=)
c.3375C>T (p.Asp1125=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.120989089G>ACA1852326GLI2c.3124G>A (p.Asp1042Asn)
c.3175G>A (p.Asp1059Asn)
c.*2223G>A (n.*2223G>A)
c.*2274G>A (n.*2274G>A)
c.3157G>A (p.Asp1053Asn)
c.3034G>A (p.Asp1012Asn)
c.2980G>A (p.Asp994Asn)
c.2800G>A (p.Asp934Asn)
c.2749G>A (p.Asp917Asn)
c.3427G>A (p.Asp1143Asn)
c.3076G>A (p.Asp1026Asn)
c.3376G>A (p.Asp1126Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.120989089G>CCA1852328GLI2c.3124G>C (p.Asp1042His)
c.3175G>C (p.Asp1059His)
c.*2223G>C (n.*2223G>C)
c.*2274G>C (n.*2274G>C)
c.3157G>C (p.Asp1053His)
c.3034G>C (p.Asp1012His)
c.2980G>C (p.Asp994His)
c.2800G>C (p.Asp934His)
c.2749G>C (p.Asp917His)
c.3427G>C (p.Asp1143His)
c.3076G>C (p.Asp1026His)
c.3376G>C (p.Asp1126His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989089G=CA1283795460GLI2c.3124G= (p.Asp1042=)
c.3175G= (p.Asp1059=)
c.*2223G= (n.*2223G=)
c.*2274G= (n.*2274G=)
c.3157G= (p.Asp1053=)
c.3034G= (p.Asp1012=)
c.2980G= (p.Asp994=)
c.2800G= (p.Asp934=)
c.2749G= (p.Asp917=)
c.3427G= (p.Asp1143=)
c.3076G= (p.Asp1026=)
c.3376G= (p.Asp1126=)
2g.120989089G>TCA1852327GLI2c.3124G>T (p.Asp1042Tyr)
c.3175G>T (p.Asp1059Tyr)
c.*2223G>T (n.*2223G>T)
c.*2274G>T (n.*2274G>T)
c.3157G>T (p.Asp1053Tyr)
c.3034G>T (p.Asp1012Tyr)
c.2980G>T (p.Asp994Tyr)
c.2800G>T (p.Asp934Tyr)
c.2749G>T (p.Asp917Tyr)
c.3427G>T (p.Asp1143Tyr)
c.3076G>T (p.Asp1026Tyr)
c.3376G>T (p.Asp1126Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989089_120989090delinsCTCA658657059GLI2c.3124_3125delinsCT (p.Asp1042Leu)
c.3175_3176delinsCT (p.Asp1059Leu)
c.*2223_*2224delinsCT (n.*2223_*2224delinsCT)
c.*2274_*2275delinsCT (n.*2274_*2275delinsCT)
c.3157_3158delinsCT (p.Asp1053Leu)
c.3034_3035delinsCT (p.Asp1012Leu)
c.2980_2981delinsCT (p.Asp994Leu)
c.2800_2801delinsCT (p.Asp934Leu)
c.2749_2750delinsCT (p.Asp917Leu)
c.3427_3428delinsCT (p.Asp1143Leu)
c.3076_3077delinsCT (p.Asp1026Leu)
c.3376_3377delinsCT (p.Asp1126Leu)
 ClinVar dbSNP
2g.120989089_120989090delinsGACA1283795459GLI2c.3124_3125delinsGA (p.Asp1042=)
c.3175_3176delinsGA (p.Asp1059=)
c.*2223_*2224delinsGA (n.*2223_*2224delinsGA)
c.*2274_*2275delinsGA (n.*2274_*2275delinsGA)
c.3157_3158delinsGA (p.Asp1053=)
c.3034_3035delinsGA (p.Asp1012=)
c.2980_2981delinsGA (p.Asp994=)
c.2800_2801delinsGA (p.Asp934=)
c.2749_2750delinsGA (p.Asp917=)
c.3427_3428delinsGA (p.Asp1143=)
c.3076_3077delinsGA (p.Asp1026=)
c.3376_3377delinsGA (p.Asp1126=)
2g.120989090A=CA1283795461GLI2c.3125A= (p.Asp1042=)
c.3176A= (p.Asp1059=)
c.*2224A= (n.*2224A=)
c.*2275A= (n.*2275A=)
c.3158A= (p.Asp1053=)
c.3035A= (p.Asp1012=)
c.2981A= (p.Asp994=)
c.2801A= (p.Asp934=)
c.2750A= (p.Asp917=)
c.3428A= (p.Asp1143=)
c.3077A= (p.Asp1026=)
c.3377A= (p.Asp1126=)
2g.120989090A>CCA348172560GLI2c.3125A>C (p.Asp1042Ala)
c.3176A>C (p.Asp1059Ala)
c.*2224A>C (n.*2224A>C)
c.*2275A>C (n.*2275A>C)
c.3158A>C (p.Asp1053Ala)
c.3035A>C (p.Asp1012Ala)
c.2981A>C (p.Asp994Ala)
c.2801A>C (p.Asp934Ala)
c.2750A>C (p.Asp917Ala)
c.3428A>C (p.Asp1143Ala)
c.3077A>C (p.Asp1026Ala)
c.3377A>C (p.Asp1126Ala)
2g.120989090A>GCA348172562GLI2c.3125A>G (p.Asp1042Gly)
c.3176A>G (p.Asp1059Gly)
c.*2224A>G (n.*2224A>G)
c.*2275A>G (n.*2275A>G)
c.3158A>G (p.Asp1053Gly)
c.3035A>G (p.Asp1012Gly)
c.2981A>G (p.Asp994Gly)
c.2801A>G (p.Asp934Gly)
c.2750A>G (p.Asp917Gly)
c.3428A>G (p.Asp1143Gly)
c.3077A>G (p.Asp1026Gly)
c.3377A>G (p.Asp1126Gly)
2g.120989090A>TCA1852329GLI2c.3125A>T (p.Asp1042Val)
c.3176A>T (p.Asp1059Val)
c.*2224A>T (n.*2224A>T)
c.*2275A>T (n.*2275A>T)
c.3158A>T (p.Asp1053Val)
c.3035A>T (p.Asp1012Val)
c.2981A>T (p.Asp994Val)
c.2801A>T (p.Asp934Val)
c.2750A>T (p.Asp917Val)
c.3428A>T (p.Asp1143Val)
c.3077A>T (p.Asp1026Val)
c.3377A>T (p.Asp1126Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989090_120989091insTACA2580063762GLI2c.3125_3126insTA (p.Leu1043ThrfsTer?)
c.3176_3177insTA (p.Leu1060ThrfsTer?)
c.*2224_*2225insTA (n.*2224_*2225insTA)
c.*2275_*2276insTA (n.*2275_*2276insTA)
c.3158_3159insTA (p.Leu1054ThrfsTer?)
c.3035_3036insTA (p.Leu1013ThrfsTer?)
c.2981_2982insTA (p.Leu995ThrfsTer?)
c.2801_2802insTA (p.Leu935ThrfsTer?)
c.2750_2751insTA (p.Leu918ThrfsTer?)
c.3428_3429insTA (p.Leu1144ThrfsTer?)
c.3077_3078insTA (p.Leu1027ThrfsTer?)
c.3377_3378insTA (p.Leu1127ThrfsTer?)
 ClinVar
2g.120989091C>ACA348172566GLI2c.3126C>A (p.Asp1042Glu)
c.3177C>A (p.Asp1059Glu)
c.*2225C>A (n.*2225C>A)
c.*2276C>A (n.*2276C>A)
c.3159C>A (p.Asp1053Glu)
c.3036C>A (p.Asp1012Glu)
c.2982C>A (p.Asp994Glu)
c.2802C>A (p.Asp934Glu)
c.2751C>A (p.Asp917Glu)
c.3429C>A (p.Asp1143Glu)
c.3078C>A (p.Asp1026Glu)
c.3378C>A (p.Asp1126Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.120989091C=CA1283795462GLI2c.3126C= (p.Asp1042=)
c.3177C= (p.Asp1059=)
c.*2225C= (n.*2225C=)
c.*2276C= (n.*2276C=)
c.3159C= (p.Asp1053=)
c.3036C= (p.Asp1012=)
c.2982C= (p.Asp994=)
c.2802C= (p.Asp934=)
c.2751C= (p.Asp917=)
c.3429C= (p.Asp1143=)
c.3078C= (p.Asp1026=)
c.3378C= (p.Asp1126=)
2g.120989091C>GCA1852330GLI2c.3126C>G (p.Asp1042Glu)
c.3177C>G (p.Asp1059Glu)
c.*2225C>G (n.*2225C>G)
c.*2276C>G (n.*2276C>G)
c.3159C>G (p.Asp1053Glu)
c.3036C>G (p.Asp1012Glu)
c.2982C>G (p.Asp994Glu)
c.2802C>G (p.Asp934Glu)
c.2751C>G (p.Asp917Glu)
c.3429C>G (p.Asp1143Glu)
c.3078C>G (p.Asp1026Glu)
c.3378C>G (p.Asp1126Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989091C>TCA428749714GLI2c.3126C>T (p.Asp1042=)
c.3177C>T (p.Asp1059=)
c.*2225C>T (n.*2225C>T)
c.*2276C>T (n.*2276C>T)
c.3159C>T (p.Asp1053=)
c.3036C>T (p.Asp1012=)
c.2982C>T (p.Asp994=)
c.2802C>T (p.Asp934=)
c.2751C>T (p.Asp917=)
c.3429C>T (p.Asp1143=)
c.3078C>T (p.Asp1026=)
c.3378C>T (p.Asp1126=)
 gnomAD v4
2g.120989092C>ACA348172575GLI2c.3127C>A (p.Leu1043Met)
c.3178C>A (p.Leu1060Met)
c.*2226C>A (n.*2226C>A)
c.*2277C>A (n.*2277C>A)
c.3160C>A (p.Leu1054Met)
c.3037C>A (p.Leu1013Met)
c.2983C>A (p.Leu995Met)
c.2803C>A (p.Leu935Met)
c.2752C>A (p.Leu918Met)
c.3430C>A (p.Leu1144Met)
c.3079C>A (p.Leu1027Met)
c.3379C>A (p.Leu1127Met)
2g.120989092C=CA1283795463GLI2c.3127C= (p.Leu1043=)
c.3178C= (p.Leu1060=)
c.*2226C= (n.*2226C=)
c.*2277C= (n.*2277C=)
c.3160C= (p.Leu1054=)
c.3037C= (p.Leu1013=)
c.2983C= (p.Leu995=)
c.2803C= (p.Leu935=)
c.2752C= (p.Leu918=)
c.3430C= (p.Leu1144=)
c.3079C= (p.Leu1027=)
c.3379C= (p.Leu1127=)
2g.120989092C>GCA348172574GLI2c.3127C>G (p.Leu1043Val)
c.3178C>G (p.Leu1060Val)
c.*2226C>G (n.*2226C>G)
c.*2277C>G (n.*2277C>G)
c.3160C>G (p.Leu1054Val)
c.3037C>G (p.Leu1013Val)
c.2983C>G (p.Leu995Val)
c.2803C>G (p.Leu935Val)
c.2752C>G (p.Leu918Val)
c.3430C>G (p.Leu1144Val)
c.3079C>G (p.Leu1027Val)
c.3379C>G (p.Leu1127Val)
 gnomAD v4
2g.120989092C>TCA1852331GLI2c.3127C>T (p.Leu1043=)
c.3178C>T (p.Leu1060=)
c.*2226C>T (n.*2226C>T)
c.*2277C>T (n.*2277C>T)
c.3160C>T (p.Leu1054=)
c.3037C>T (p.Leu1013=)
c.2983C>T (p.Leu995=)
c.2803C>T (p.Leu935=)
c.2752C>T (p.Leu918=)
c.3430C>T (p.Leu1144=)
c.3079C>T (p.Leu1027=)
c.3379C>T (p.Leu1127=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989093T>ACA348172578GLI2c.3128T>A (p.Leu1043Gln)
c.3179T>A (p.Leu1060Gln)
c.*2227T>A (n.*2227T>A)
c.*2278T>A (n.*2278T>A)
c.3161T>A (p.Leu1054Gln)
c.3038T>A (p.Leu1013Gln)
c.2984T>A (p.Leu995Gln)
c.2804T>A (p.Leu935Gln)
c.2753T>A (p.Leu918Gln)
c.3431T>A (p.Leu1144Gln)
c.3080T>A (p.Leu1027Gln)
c.3380T>A (p.Leu1127Gln)
2g.120989093T>CCA348172580GLI2c.3128T>C (p.Leu1043Pro)
c.3179T>C (p.Leu1060Pro)
c.*2227T>C (n.*2227T>C)
c.*2278T>C (n.*2278T>C)
c.3161T>C (p.Leu1054Pro)
c.3038T>C (p.Leu1013Pro)
c.2984T>C (p.Leu995Pro)
c.2804T>C (p.Leu935Pro)
c.2753T>C (p.Leu918Pro)
c.3431T>C (p.Leu1144Pro)
c.3080T>C (p.Leu1027Pro)
c.3380T>C (p.Leu1127Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989093T>GCA348172582GLI2c.3128T>G (p.Leu1043Arg)
c.3179T>G (p.Leu1060Arg)
c.*2227T>G (n.*2227T>G)
c.*2278T>G (n.*2278T>G)
c.3161T>G (p.Leu1054Arg)
c.3038T>G (p.Leu1013Arg)
c.2984T>G (p.Leu995Arg)
c.2804T>G (p.Leu935Arg)
c.2753T>G (p.Leu918Arg)
c.3431T>G (p.Leu1144Arg)
c.3080T>G (p.Leu1027Arg)
c.3380T>G (p.Leu1127Arg)
2g.120989093T=CA1283795464GLI2c.3128T= (p.Leu1043=)
c.3179T= (p.Leu1060=)
c.*2227T= (n.*2227T=)
c.*2278T= (n.*2278T=)
c.3161T= (p.Leu1054=)
c.3038T= (p.Leu1013=)
c.2984T= (p.Leu995=)
c.2804T= (p.Leu935=)
c.2753T= (p.Leu918=)
c.3431T= (p.Leu1144=)
c.3080T= (p.Leu1027=)
c.3380T= (p.Leu1127=)
2g.120989099_120989116dupCA2660922227GLI2c.3134_3151dup (p.Val1050_Gln1051insLeuProAspAspValVal)
c.3185_3202dup (p.Val1067_Gln1068insLeuProAspAspValVal)
c.*2233_*2250dup (n.*2233_*2250dup)
c.*2284_*2301dup (n.*2284_*2301dup)
c.3167_3184dup (p.Val1061_Gln1062insLeuProAspAspValVal)
c.3044_3061dup (p.Val1020_Gln1021insLeuProAspAspValVal)
c.2990_3007dup (p.Val1002_Gln1003insLeuProAspAspValVal)
c.2810_2827dup (p.Val942_Gln943insLeuProAspAspValVal)
c.2759_2776dup (p.Val925_Gln926insLeuProAspAspValVal)
c.3437_3454dup (p.Val1151_Gln1152insLeuProAspAspValVal)
c.3086_3103dup (p.Val1034_Gln1035insLeuProAspAspValVal)
c.3386_3403dup (p.Val1134_Gln1135insLeuProAspAspValVal)
 gnomAD v4
2g.120989094G>ACA428749715GLI2c.3129G>A (p.Leu1043=)
c.3180G>A (p.Leu1060=)
c.*2228G>A (n.*2228G>A)
c.*2279G>A (n.*2279G>A)
c.3162G>A (p.Leu1054=)
c.3039G>A (p.Leu1013=)
c.2985G>A (p.Leu995=)
c.2805G>A (p.Leu935=)
c.2754G>A (p.Leu918=)
c.3432G>A (p.Leu1144=)
c.3081G>A (p.Leu1027=)
c.3381G>A (p.Leu1127=)
2g.120989094G>CCA428749716GLI2c.3129G>C (p.Leu1043=)
c.3180G>C (p.Leu1060=)
c.*2228G>C (n.*2228G>C)
c.*2279G>C (n.*2279G>C)
c.3162G>C (p.Leu1054=)
c.3039G>C (p.Leu1013=)
c.2985G>C (p.Leu995=)
c.2805G>C (p.Leu935=)
c.2754G>C (p.Leu918=)
c.3432G>C (p.Leu1144=)
c.3081G>C (p.Leu1027=)
c.3381G>C (p.Leu1127=)
2g.120989094G>TCA428749717GLI2c.3129G>T (p.Leu1043=)
c.3180G>T (p.Leu1060=)
c.*2228G>T (n.*2228G>T)
c.*2279G>T (n.*2279G>T)
c.3162G>T (p.Leu1054=)
c.3039G>T (p.Leu1013=)
c.2985G>T (p.Leu995=)
c.2805G>T (p.Leu935=)
c.2754G>T (p.Leu918=)
c.3432G>T (p.Leu1144=)
c.3081G>T (p.Leu1027=)
c.3381G>T (p.Leu1127=)
2g.120989095G>ACA348172593GLI2c.3130G>A (p.Val1044Met)
c.3181G>A (p.Val1061Met)
c.*2229G>A (n.*2229G>A)
c.*2280G>A (n.*2280G>A)
c.3163G>A (p.Val1055Met)
c.3040G>A (p.Val1014Met)
c.2986G>A (p.Val996Met)
c.2806G>A (p.Val936Met)
c.2755G>A (p.Val919Met)
c.3433G>A (p.Val1145Met)
c.3082G>A (p.Val1028Met)
c.3382G>A (p.Val1128Met)
2g.120989095G>CCA348172594GLI2c.3130G>C (p.Val1044Leu)
c.3181G>C (p.Val1061Leu)
c.*2229G>C (n.*2229G>C)
c.*2280G>C (n.*2280G>C)
c.3163G>C (p.Val1055Leu)
c.3040G>C (p.Val1014Leu)
c.2986G>C (p.Val996Leu)
c.2806G>C (p.Val936Leu)
c.2755G>C (p.Val919Leu)
c.3433G>C (p.Val1145Leu)
c.3082G>C (p.Val1028Leu)
c.3382G>C (p.Val1128Leu)
2g.120989095G>TCA348172595GLI2c.3130G>T (p.Val1044Leu)
c.3181G>T (p.Val1061Leu)
c.*2229G>T (n.*2229G>T)
c.*2280G>T (n.*2280G>T)
c.3163G>T (p.Val1055Leu)
c.3040G>T (p.Val1014Leu)
c.2986G>T (p.Val996Leu)
c.2806G>T (p.Val936Leu)
c.2755G>T (p.Val919Leu)
c.3433G>T (p.Val1145Leu)
c.3082G>T (p.Val1028Leu)
c.3382G>T (p.Val1128Leu)
2g.120989096T>ACA348172597GLI2c.3131T>A (p.Val1044Glu)
c.3182T>A (p.Val1061Glu)
c.*2230T>A (n.*2230T>A)
c.*2281T>A (n.*2281T>A)
c.3164T>A (p.Val1055Glu)
c.3041T>A (p.Val1014Glu)
c.2987T>A (p.Val996Glu)
c.2807T>A (p.Val936Glu)
c.2756T>A (p.Val919Glu)
c.3434T>A (p.Val1145Glu)
c.3083T>A (p.Val1028Glu)
c.3383T>A (p.Val1128Glu)
2g.120989096T>CCA348172598GLI2c.3131T>C (p.Val1044Ala)
c.3182T>C (p.Val1061Ala)
c.*2230T>C (n.*2230T>C)
c.*2281T>C (n.*2281T>C)
c.3164T>C (p.Val1055Ala)
c.3041T>C (p.Val1014Ala)
c.2987T>C (p.Val996Ala)
c.2807T>C (p.Val936Ala)
c.2756T>C (p.Val919Ala)
c.3434T>C (p.Val1145Ala)
c.3083T>C (p.Val1028Ala)
c.3383T>C (p.Val1128Ala)
2g.120989096T>GCA348172600GLI2c.3131T>G (p.Val1044Gly)
c.3182T>G (p.Val1061Gly)
c.*2230T>G (n.*2230T>G)
c.*2281T>G (n.*2281T>G)
c.3164T>G (p.Val1055Gly)
c.3041T>G (p.Val1014Gly)
c.2987T>G (p.Val996Gly)
c.2807T>G (p.Val936Gly)
c.2756T>G (p.Val919Gly)
c.3434T>G (p.Val1145Gly)
c.3083T>G (p.Val1028Gly)
c.3383T>G (p.Val1128Gly)
2g.120989097G>ACA428749721GLI2c.3132G>A (p.Val1044=)
c.3183G>A (p.Val1061=)
c.*2231G>A (n.*2231G>A)
c.*2282G>A (n.*2282G>A)
c.3165G>A (p.Val1055=)
c.3042G>A (p.Val1014=)
c.2988G>A (p.Val996=)
c.2808G>A (p.Val936=)
c.2757G>A (p.Val919=)
c.3435G>A (p.Val1145=)
c.3084G>A (p.Val1028=)
c.3384G>A (p.Val1128=)
 gnomAD v4
2g.120989097G>CCA428749723GLI2c.3132G>C (p.Val1044=)
c.3183G>C (p.Val1061=)
c.*2231G>C (n.*2231G>C)
c.*2282G>C (n.*2282G>C)
c.3165G>C (p.Val1055=)
c.3042G>C (p.Val1014=)
c.2988G>C (p.Val996=)
c.2808G>C (p.Val936=)
c.2757G>C (p.Val919=)
c.3435G>C (p.Val1145=)
c.3084G>C (p.Val1028=)
c.3384G>C (p.Val1128=)
2g.120989097G>TCA428749722GLI2c.3132G>T (p.Val1044=)
c.3183G>T (p.Val1061=)
c.*2231G>T (n.*2231G>T)
c.*2282G>T (n.*2282G>T)
c.3165G>T (p.Val1055=)
c.3042G>T (p.Val1014=)
c.2988G>T (p.Val996=)
c.2808G>T (p.Val936=)
c.2757G>T (p.Val919=)
c.3435G>T (p.Val1145=)
c.3084G>T (p.Val1028=)
c.3384G>T (p.Val1128=)
 gnomAD v4
2g.120989098C>ACA348172602GLI2c.3133C>A (p.Leu1045Ile)
c.3184C>A (p.Leu1062Ile)
c.*2232C>A (n.*2232C>A)
c.*2283C>A (n.*2283C>A)
c.3166C>A (p.Leu1056Ile)
c.3043C>A (p.Leu1015Ile)
c.2989C>A (p.Leu997Ile)
c.2809C>A (p.Leu937Ile)
c.2758C>A (p.Leu920Ile)
c.3436C>A (p.Leu1146Ile)
c.3085C>A (p.Leu1029Ile)
c.3385C>A (p.Leu1129Ile)
 gnomAD v4
2g.120989098C=CA1283795465GLI2c.3133C= (p.Leu1045=)
c.3184C= (p.Leu1062=)
c.*2232C= (n.*2232C=)
c.*2283C= (n.*2283C=)
c.3166C= (p.Leu1056=)
c.3043C= (p.Leu1015=)
c.2989C= (p.Leu997=)
c.2809C= (p.Leu937=)
c.2758C= (p.Leu920=)
c.3436C= (p.Leu1146=)
c.3085C= (p.Leu1029=)
c.3385C= (p.Leu1129=)
2g.120989098C>GCA348172604GLI2c.3133C>G (p.Leu1045Val)
c.3184C>G (p.Leu1062Val)
c.*2232C>G (n.*2232C>G)
c.*2283C>G (n.*2283C>G)
c.3166C>G (p.Leu1056Val)
c.3043C>G (p.Leu1015Val)
c.2989C>G (p.Leu997Val)
c.2809C>G (p.Leu937Val)
c.2758C>G (p.Leu920Val)
c.3436C>G (p.Leu1146Val)
c.3085C>G (p.Leu1029Val)
c.3385C>G (p.Leu1129Val)
2g.120989098C>TCA348172606GLI2c.3133C>T (p.Leu1045Phe)
c.3184C>T (p.Leu1062Phe)
c.*2232C>T (n.*2232C>T)
c.*2283C>T (n.*2283C>T)
c.3166C>T (p.Leu1056Phe)
c.3043C>T (p.Leu1015Phe)
c.2989C>T (p.Leu997Phe)
c.2809C>T (p.Leu937Phe)
c.2758C>T (p.Leu920Phe)
c.3436C>T (p.Leu1146Phe)
c.3085C>T (p.Leu1029Phe)
c.3385C>T (p.Leu1129Phe)
 dbSNP gnomAD v4
2g.120989099T>ACA348172610GLI2c.3134T>A (p.Leu1045His)
c.3185T>A (p.Leu1062His)
c.*2233T>A (n.*2233T>A)
c.*2284T>A (n.*2284T>A)
c.3167T>A (p.Leu1056His)
c.3044T>A (p.Leu1015His)
c.2990T>A (p.Leu997His)
c.2810T>A (p.Leu937His)
c.2759T>A (p.Leu920His)
c.3437T>A (p.Leu1146His)
c.3086T>A (p.Leu1029His)
c.3386T>A (p.Leu1129His)
2g.120989099T>CCA348172609GLI2c.3134T>C (p.Leu1045Pro)
c.3185T>C (p.Leu1062Pro)
c.*2233T>C (n.*2233T>C)
c.*2284T>C (n.*2284T>C)
c.3167T>C (p.Leu1056Pro)
c.3044T>C (p.Leu1015Pro)
c.2990T>C (p.Leu997Pro)
c.2810T>C (p.Leu937Pro)
c.2759T>C (p.Leu920Pro)
c.3437T>C (p.Leu1146Pro)
c.3086T>C (p.Leu1029Pro)
c.3386T>C (p.Leu1129Pro)
2g.120989099T>GCA348172607GLI2c.3134T>G (p.Leu1045Arg)
c.3185T>G (p.Leu1062Arg)
c.*2233T>G (n.*2233T>G)
c.*2284T>G (n.*2284T>G)
c.3167T>G (p.Leu1056Arg)
c.3044T>G (p.Leu1015Arg)
c.2990T>G (p.Leu997Arg)
c.2810T>G (p.Leu937Arg)
c.2759T>G (p.Leu920Arg)
c.3437T>G (p.Leu1146Arg)
c.3086T>G (p.Leu1029Arg)
c.3386T>G (p.Leu1129Arg)
2g.120989100T>ACA428749726GLI2c.3135T>A (p.Leu1045=)
c.3186T>A (p.Leu1062=)
c.*2234T>A (n.*2234T>A)
c.*2285T>A (n.*2285T>A)
c.3168T>A (p.Leu1056=)
c.3045T>A (p.Leu1015=)
c.2991T>A (p.Leu997=)
c.2811T>A (p.Leu937=)
c.2760T>A (p.Leu920=)
c.3438T>A (p.Leu1146=)
c.3087T>A (p.Leu1029=)
c.3387T>A (p.Leu1129=)
2g.120989100T>CCA428749727GLI2c.3135T>C (p.Leu1045=)
c.3186T>C (p.Leu1062=)
c.*2234T>C (n.*2234T>C)
c.*2285T>C (n.*2285T>C)
c.3168T>C (p.Leu1056=)
c.3045T>C (p.Leu1015=)
c.2991T>C (p.Leu997=)
c.2811T>C (p.Leu937=)
c.2760T>C (p.Leu920=)
c.3438T>C (p.Leu1146=)
c.3087T>C (p.Leu1029=)
c.3387T>C (p.Leu1129=)
 dbSNP gnomAD v2 gnomAD v4
2g.120989100T>GCA428749728GLI2c.3135T>G (p.Leu1045=)
c.3186T>G (p.Leu1062=)
c.*2234T>G (n.*2234T>G)
c.*2285T>G (n.*2285T>G)
c.3168T>G (p.Leu1056=)
c.3045T>G (p.Leu1015=)
c.2991T>G (p.Leu997=)
c.2811T>G (p.Leu937=)
c.2760T>G (p.Leu920=)
c.3438T>G (p.Leu1146=)
c.3087T>G (p.Leu1029=)
c.3387T>G (p.Leu1129=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.120989100T=CA1283795466GLI2c.3135T= (p.Leu1045=)
c.3186T= (p.Leu1062=)
c.*2234T= (n.*2234T=)
c.*2285T= (n.*2285T=)
c.3168T= (p.Leu1056=)
c.3045T= (p.Leu1015=)
c.2991T= (p.Leu997=)
c.2811T= (p.Leu937=)
c.2760T= (p.Leu920=)
c.3438T= (p.Leu1146=)
c.3087T= (p.Leu1029=)
c.3387T= (p.Leu1129=)
2g.120989100_120989117dupCA2660922228GLI2c.3135_3152dup (p.Val1050_Gln1051insHisProAspAspValVal)
c.3186_3203dup (p.Val1067_Gln1068insHisProAspAspValVal)
c.*2234_*2251dup (n.*2234_*2251dup)
c.*2285_*2302dup (n.*2285_*2302dup)
c.3168_3185dup (p.Val1061_Gln1062insHisProAspAspValVal)
c.3045_3062dup (p.Val1020_Gln1021insHisProAspAspValVal)
c.2991_3008dup (p.Val1002_Gln1003insHisProAspAspValVal)
c.2811_2828dup (p.Val942_Gln943insHisProAspAspValVal)
c.2760_2777dup (p.Val925_Gln926insHisProAspAspValVal)
c.3438_3455dup (p.Val1151_Gln1152insHisProAspAspValVal)
c.3087_3104dup (p.Val1034_Gln1035insHisProAspAspValVal)
c.3387_3404dup (p.Val1134_Gln1135insHisProAspAspValVal)
 gnomAD v4
2g.120989101C>ACA348172611GLI2c.3136C>A (p.Pro1046Thr)
c.3187C>A (p.Pro1063Thr)
c.*2235C>A (n.*2235C>A)
c.*2286C>A (n.*2286C>A)
c.3169C>A (p.Pro1057Thr)
c.3046C>A (p.Pro1016Thr)
c.2992C>A (p.Pro998Thr)
c.2812C>A (p.Pro938Thr)
c.2761C>A (p.Pro921Thr)
c.3439C>A (p.Pro1147Thr)
c.3088C>A (p.Pro1030Thr)
c.3388C>A (p.Pro1130Thr)
2g.120989101C>GCA348172613GLI2c.3136C>G (p.Pro1046Ala)
c.3187C>G (p.Pro1063Ala)
c.*2235C>G (n.*2235C>G)
c.*2286C>G (n.*2286C>G)
c.3169C>G (p.Pro1057Ala)
c.3046C>G (p.Pro1016Ala)
c.2992C>G (p.Pro998Ala)
c.2812C>G (p.Pro938Ala)
c.2761C>G (p.Pro921Ala)
c.3439C>G (p.Pro1147Ala)
c.3088C>G (p.Pro1030Ala)
c.3388C>G (p.Pro1130Ala)
2g.120989101C>TCA348172612GLI2c.3136C>T (p.Pro1046Ser)
c.3187C>T (p.Pro1063Ser)
c.*2235C>T (n.*2235C>T)
c.*2286C>T (n.*2286C>T)
c.3169C>T (p.Pro1057Ser)
c.3046C>T (p.Pro1016Ser)
c.2992C>T (p.Pro998Ser)
c.2812C>T (p.Pro938Ser)
c.2761C>T (p.Pro921Ser)
c.3439C>T (p.Pro1147Ser)
c.3088C>T (p.Pro1030Ser)
c.3388C>T (p.Pro1130Ser)
 COSMIC
2g.120989102C>ACA348172622GLI2c.3137C>A (p.Pro1046Gln)
c.3188C>A (p.Pro1063Gln)
c.*2236C>A (n.*2236C>A)
c.*2287C>A (n.*2287C>A)
c.3170C>A (p.Pro1057Gln)
c.3047C>A (p.Pro1016Gln)
c.2993C>A (p.Pro998Gln)
c.2813C>A (p.Pro938Gln)
c.2762C>A (p.Pro921Gln)
c.3440C>A (p.Pro1147Gln)
c.3089C>A (p.Pro1030Gln)
c.3389C>A (p.Pro1130Gln)
2g.120989102C>GCA348172624GLI2c.3137C>G (p.Pro1046Arg)
c.3188C>G (p.Pro1063Arg)
c.*2236C>G (n.*2236C>G)
c.*2287C>G (n.*2287C>G)
c.3170C>G (p.Pro1057Arg)
c.3047C>G (p.Pro1016Arg)
c.2993C>G (p.Pro998Arg)
c.2813C>G (p.Pro938Arg)
c.2762C>G (p.Pro921Arg)
c.3440C>G (p.Pro1147Arg)
c.3089C>G (p.Pro1030Arg)
c.3389C>G (p.Pro1130Arg)
2g.120989102C>TCA348172625GLI2c.3137C>T (p.Pro1046Leu)
c.3188C>T (p.Pro1063Leu)
c.*2236C>T (n.*2236C>T)
c.*2287C>T (n.*2287C>T)
c.3170C>T (p.Pro1057Leu)
c.3047C>T (p.Pro1016Leu)
c.2993C>T (p.Pro998Leu)
c.2813C>T (p.Pro938Leu)
c.2762C>T (p.Pro921Leu)
c.3440C>T (p.Pro1147Leu)
c.3089C>T (p.Pro1030Leu)
c.3389C>T (p.Pro1130Leu)
2g.120989103A>CCA428749730GLI2c.3138A>C (p.Pro1046=)
c.3189A>C (p.Pro1063=)
c.*2237A>C (n.*2237A>C)
c.*2288A>C (n.*2288A>C)
c.3171A>C (p.Pro1057=)
c.3048A>C (p.Pro1016=)
c.2994A>C (p.Pro998=)
c.2814A>C (p.Pro938=)
c.2763A>C (p.Pro921=)
c.3441A>C (p.Pro1147=)
c.3090A>C (p.Pro1030=)
c.3390A>C (p.Pro1130=)
2g.120989103A>GCA428749731GLI2c.3138A>G (p.Pro1046=)
c.3189A>G (p.Pro1063=)
c.*2237A>G (n.*2237A>G)
c.*2288A>G (n.*2288A>G)
c.3171A>G (p.Pro1057=)
c.3048A>G (p.Pro1016=)
c.2994A>G (p.Pro998=)
c.2814A>G (p.Pro938=)
c.2763A>G (p.Pro921=)
c.3441A>G (p.Pro1147=)
c.3090A>G (p.Pro1030=)
c.3390A>G (p.Pro1130=)
 gnomAD v4
2g.120989103A>TCA428749732GLI2c.3138A>T (p.Pro1046=)
c.3189A>T (p.Pro1063=)
c.*2237A>T (n.*2237A>T)
c.*2288A>T (n.*2288A>T)
c.3171A>T (p.Pro1057=)
c.3048A>T (p.Pro1016=)
c.2994A>T (p.Pro998=)
c.2814A>T (p.Pro938=)
c.2763A>T (p.Pro921=)
c.3441A>T (p.Pro1147=)
c.3090A>T (p.Pro1030=)
c.3390A>T (p.Pro1130=)
2g.120989104G>ACA348172626GLI2c.3139G>A (p.Asp1047Asn)
c.3190G>A (p.Asp1064Asn)
c.*2238G>A (n.*2238G>A)
c.*2289G>A (n.*2289G>A)
c.3172G>A (p.Asp1058Asn)
c.3049G>A (p.Asp1017Asn)
c.2995G>A (p.Asp999Asn)
c.2815G>A (p.Asp939Asn)
c.2764G>A (p.Asp922Asn)
c.3442G>A (p.Asp1148Asn)
c.3091G>A (p.Asp1031Asn)
c.3391G>A (p.Asp1131Asn)
2g.120989104G>CCA348172628GLI2c.3139G>C (p.Asp1047His)
c.3190G>C (p.Asp1064His)
c.*2238G>C (n.*2238G>C)
c.*2289G>C (n.*2289G>C)
c.3172G>C (p.Asp1058His)
c.3049G>C (p.Asp1017His)
c.2995G>C (p.Asp999His)
c.2815G>C (p.Asp939His)
c.2764G>C (p.Asp922His)
c.3442G>C (p.Asp1148His)
c.3091G>C (p.Asp1031His)
c.3391G>C (p.Asp1131His)
2g.120989104G>TCA348172630GLI2c.3139G>T (p.Asp1047Tyr)
c.3190G>T (p.Asp1064Tyr)
c.*2238G>T (n.*2238G>T)
c.*2289G>T (n.*2289G>T)
c.3172G>T (p.Asp1058Tyr)
c.3049G>T (p.Asp1017Tyr)
c.2995G>T (p.Asp999Tyr)
c.2815G>T (p.Asp939Tyr)
c.2764G>T (p.Asp922Tyr)
c.3442G>T (p.Asp1148Tyr)
c.3091G>T (p.Asp1031Tyr)
c.3391G>T (p.Asp1131Tyr)
2g.120989105A=CA1283795467GLI2c.3140A= (p.Asp1047=)
c.3191A= (p.Asp1064=)
c.*2239A= (n.*2239A=)
c.*2290A= (n.*2290A=)
c.3173A= (p.Asp1058=)
c.3050A= (p.Asp1017=)
c.2996A= (p.Asp999=)
c.2816A= (p.Asp939=)
c.2765A= (p.Asp922=)
c.3443A= (p.Asp1148=)
c.3092A= (p.Asp1031=)
c.3392A= (p.Asp1131=)
2g.120989105A>CCA348172631GLI2c.3140A>C (p.Asp1047Ala)
c.3191A>C (p.Asp1064Ala)
c.*2239A>C (n.*2239A>C)
c.*2290A>C (n.*2290A>C)
c.3173A>C (p.Asp1058Ala)
c.3050A>C (p.Asp1017Ala)
c.2996A>C (p.Asp999Ala)
c.2816A>C (p.Asp939Ala)
c.2765A>C (p.Asp922Ala)
c.3443A>C (p.Asp1148Ala)
c.3092A>C (p.Asp1031Ala)
c.3392A>C (p.Asp1131Ala)
2g.120989105A>GCA348172632GLI2c.3140A>G (p.Asp1047Gly)
c.3191A>G (p.Asp1064Gly)
c.*2239A>G (n.*2239A>G)
c.*2290A>G (n.*2290A>G)
c.3173A>G (p.Asp1058Gly)
c.3050A>G (p.Asp1017Gly)
c.2996A>G (p.Asp999Gly)
c.2816A>G (p.Asp939Gly)
c.2765A>G (p.Asp922Gly)
c.3443A>G (p.Asp1148Gly)
c.3092A>G (p.Asp1031Gly)
c.3392A>G (p.Asp1131Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989105A>TCA348172633GLI2c.3140A>T (p.Asp1047Val)
c.3191A>T (p.Asp1064Val)
c.*2239A>T (n.*2239A>T)
c.*2290A>T (n.*2290A>T)
c.3173A>T (p.Asp1058Val)
c.3050A>T (p.Asp1017Val)
c.2996A>T (p.Asp999Val)
c.2816A>T (p.Asp939Val)
c.2765A>T (p.Asp922Val)
c.3443A>T (p.Asp1148Val)
c.3092A>T (p.Asp1031Val)
c.3392A>T (p.Asp1131Val)
2g.120989106C>ACA348172635GLI2c.3141C>A (p.Asp1047Glu)
c.3192C>A (p.Asp1064Glu)
c.*2240C>A (n.*2240C>A)
c.*2291C>A (n.*2291C>A)
c.3174C>A (p.Asp1058Glu)
c.3051C>A (p.Asp1017Glu)
c.2997C>A (p.Asp999Glu)
c.2817C>A (p.Asp939Glu)
c.2766C>A (p.Asp922Glu)
c.3444C>A (p.Asp1148Glu)
c.3093C>A (p.Asp1031Glu)
c.3393C>A (p.Asp1131Glu)
2g.120989106C=CA1283795468GLI2c.3141C= (p.Asp1047=)
c.3192C= (p.Asp1064=)
c.*2240C= (n.*2240C=)
c.*2291C= (n.*2291C=)
c.3174C= (p.Asp1058=)
c.3051C= (p.Asp1017=)
c.2997C= (p.Asp999=)
c.2817C= (p.Asp939=)
c.2766C= (p.Asp922=)
c.3444C= (p.Asp1148=)
c.3093C= (p.Asp1031=)
c.3393C= (p.Asp1131=)
2g.120989106C>GCA348172636GLI2c.3141C>G (p.Asp1047Glu)
c.3192C>G (p.Asp1064Glu)
c.*2240C>G (n.*2240C>G)
c.*2291C>G (n.*2291C>G)
c.3174C>G (p.Asp1058Glu)
c.3051C>G (p.Asp1017Glu)
c.2997C>G (p.Asp999Glu)
c.2817C>G (p.Asp939Glu)
c.2766C>G (p.Asp922Glu)
c.3444C>G (p.Asp1148Glu)
c.3093C>G (p.Asp1031Glu)
c.3393C>G (p.Asp1131Glu)
 dbSNP gnomAD v4
2g.120989106C>TCA1852332GLI2c.3141C>T (p.Asp1047=)
c.3192C>T (p.Asp1064=)
c.*2240C>T (n.*2240C>T)
c.*2291C>T (n.*2291C>T)
c.3174C>T (p.Asp1058=)
c.3051C>T (p.Asp1017=)
c.2997C>T (p.Asp999=)
c.2817C>T (p.Asp939=)
c.2766C>T (p.Asp922=)
c.3444C>T (p.Asp1148=)
c.3093C>T (p.Asp1031=)
c.3393C>T (p.Asp1131=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.120989107G>ACA348172643GLI2c.3142G>A (p.Asp1048Asn)
c.3193G>A (p.Asp1065Asn)
c.*2241G>A (n.*2241G>A)
c.*2292G>A (n.*2292G>A)
c.3175G>A (p.Asp1059Asn)
c.3052G>A (p.Asp1018Asn)
c.2998G>A (p.Asp1000Asn)
c.2818G>A (p.Asp940Asn)
c.2767G>A (p.Asp923Asn)
c.3445G>A (p.Asp1149Asn)
c.3094G>A (p.Asp1032Asn)
c.3394G>A (p.Asp1132Asn)
 gnomAD v4
2g.120989107G>CCA348172640GLI2c.3142G>C (p.Asp1048His)
c.3193G>C (p.Asp1065His)
c.*2241G>C (n.*2241G>C)
c.*2292G>C (n.*2292G>C)
c.3175G>C (p.Asp1059His)
c.3052G>C (p.Asp1018His)
c.2998G>C (p.Asp1000His)
c.2818G>C (p.Asp940His)
c.2767G>C (p.Asp923His)
c.3445G>C (p.Asp1149His)
c.3094G>C (p.Asp1032His)
c.3394G>C (p.Asp1132His)
2g.120989107G>TCA348172642GLI2c.3142G>T (p.Asp1048Tyr)
c.3193G>T (p.Asp1065Tyr)
c.*2241G>T (n.*2241G>T)
c.*2292G>T (n.*2292G>T)
c.3175G>T (p.Asp1059Tyr)
c.3052G>T (p.Asp1018Tyr)
c.2998G>T (p.Asp1000Tyr)
c.2818G>T (p.Asp940Tyr)
c.2767G>T (p.Asp923Tyr)
c.3445G>T (p.Asp1149Tyr)
c.3094G>T (p.Asp1032Tyr)
c.3394G>T (p.Asp1132Tyr)
 gnomAD v4
2g.120989108A>CCA348172646GLI2c.3143A>C (p.Asp1048Ala)
c.3194A>C (p.Asp1065Ala)
c.*2242A>C (n.*2242A>C)
c.*2293A>C (n.*2293A>C)
c.3176A>C (p.Asp1059Ala)
c.3053A>C (p.Asp1018Ala)
c.2999A>C (p.Asp1000Ala)
c.2819A>C (p.Asp940Ala)
c.2768A>C (p.Asp923Ala)
c.3446A>C (p.Asp1149Ala)
c.3095A>C (p.Asp1032Ala)
c.3395A>C (p.Asp1132Ala)
 gnomAD v4
2g.120989108A>GCA348172647GLI2c.3143A>G (p.Asp1048Gly)
c.3194A>G (p.Asp1065Gly)
c.*2242A>G (n.*2242A>G)
c.*2293A>G (n.*2293A>G)
c.3176A>G (p.Asp1059Gly)
c.3053A>G (p.Asp1018Gly)
c.2999A>G (p.Asp1000Gly)
c.2819A>G (p.Asp940Gly)
c.2768A>G (p.Asp923Gly)
c.3446A>G (p.Asp1149Gly)
c.3095A>G (p.Asp1032Gly)
c.3395A>G (p.Asp1132Gly)
2g.120989108A>TCA348172648GLI2c.3143A>T (p.Asp1048Val)
c.3194A>T (p.Asp1065Val)
c.*2242A>T (n.*2242A>T)
c.*2293A>T (n.*2293A>T)
c.3176A>T (p.Asp1059Val)
c.3053A>T (p.Asp1018Val)
c.2999A>T (p.Asp1000Val)
c.2819A>T (p.Asp940Val)
c.2768A>T (p.Asp923Val)
c.3446A>T (p.Asp1149Val)
c.3095A>T (p.Asp1032Val)
c.3395A>T (p.Asp1132Val)
2g.120989109C>ACA348172652GLI2c.3144C>A (p.Asp1048Glu)
c.3195C>A (p.Asp1065Glu)
c.*2243C>A (n.*2243C>A)
c.*2294C>A (n.*2294C>A)
c.3177C>A (p.Asp1059Glu)
c.3054C>A (p.Asp1018Glu)
c.3000C>A (p.Asp1000Glu)
c.2820C>A (p.Asp940Glu)
c.2769C>A (p.Asp923Glu)
c.3447C>A (p.Asp1149Glu)
c.3096C>A (p.Asp1032Glu)
c.3396C>A (p.Asp1132Glu)
 gnomAD v4
2g.120989109C=CA1283795469GLI2c.3144C= (p.Asp1048=)
c.3195C= (p.Asp1065=)
c.*2243C= (n.*2243C=)
c.*2294C= (n.*2294C=)
c.3177C= (p.Asp1059=)
c.3054C= (p.Asp1018=)
c.3000C= (p.Asp1000=)
c.2820C= (p.Asp940=)
c.2769C= (p.Asp923=)
c.3447C= (p.Asp1149=)
c.3096C= (p.Asp1032=)
c.3396C= (p.Asp1132=)
2g.120989109C>GCA348172653GLI2c.3144C>G (p.Asp1048Glu)
c.3195C>G (p.Asp1065Glu)
c.*2243C>G (n.*2243C>G)
c.*2294C>G (n.*2294C>G)
c.3177C>G (p.Asp1059Glu)
c.3054C>G (p.Asp1018Glu)
c.3000C>G (p.Asp1000Glu)
c.2820C>G (p.Asp940Glu)
c.2769C>G (p.Asp923Glu)
c.3447C>G (p.Asp1149Glu)
c.3096C>G (p.Asp1032Glu)
c.3396C>G (p.Asp1132Glu)
 gnomAD v4
2g.120989109C>TCA428749737GLI2c.3144C>T (p.Asp1048=)
c.3195C>T (p.Asp1065=)
c.*2243C>T (n.*2243C>T)
c.*2294C>T (n.*2294C>T)
c.3177C>T (p.Asp1059=)
c.3054C>T (p.Asp1018=)
c.3000C>T (p.Asp1000=)
c.2820C>T (p.Asp940=)
c.2769C>T (p.Asp923=)
c.3447C>T (p.Asp1149=)
c.3096C>T (p.Asp1032=)
c.3396C>T (p.Asp1132=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.120989110G>ACA1852333GLI2c.3145G>A (p.Val1049Met)
c.3196G>A (p.Val1066Met)
c.*2244G>A (n.*2244G>A)
c.*2295G>A (n.*2295G>A)
c.3178G>A (p.Val1060Met)
c.3055G>A (p.Val1019Met)
c.3001G>A (p.Val1001Met)
c.2821G>A (p.Val941Met)
c.2770G>A (p.Val924Met)
c.3448G>A (p.Val1150Met)
c.3097G>A (p.Val1033Met)
c.3397G>A (p.Val1133Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989110G>CCA1852334GLI2c.3145G>C (p.Val1049Leu)
c.3196G>C (p.Val1066Leu)
c.*2244G>C (n.*2244G>C)
c.*2295G>C (n.*2295G>C)
c.3178G>C (p.Val1060Leu)
c.3055G>C (p.Val1019Leu)
c.3001G>C (p.Val1001Leu)
c.2821G>C (p.Val941Leu)
c.2770G>C (p.Val924Leu)
c.3448G>C (p.Val1150Leu)
c.3097G>C (p.Val1033Leu)
c.3397G>C (p.Val1133Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989110G=CA1283795470GLI2c.3145G= (p.Val1049=)
c.3196G= (p.Val1066=)
c.*2244G= (n.*2244G=)
c.*2295G= (n.*2295G=)
c.3178G= (p.Val1060=)
c.3055G= (p.Val1019=)
c.3001G= (p.Val1001=)
c.2821G= (p.Val941=)
c.2770G= (p.Val924=)
c.3448G= (p.Val1150=)
c.3097G= (p.Val1033=)
c.3397G= (p.Val1133=)
2g.120989110G>TCA348172660GLI2c.3145G>T (p.Val1049Leu)
c.3196G>T (p.Val1066Leu)
c.*2244G>T (n.*2244G>T)
c.*2295G>T (n.*2295G>T)
c.3178G>T (p.Val1060Leu)
c.3055G>T (p.Val1019Leu)
c.3001G>T (p.Val1001Leu)
c.2821G>T (p.Val941Leu)
c.2770G>T (p.Val924Leu)
c.3448G>T (p.Val1150Leu)
c.3097G>T (p.Val1033Leu)
c.3397G>T (p.Val1133Leu)
2g.120989111T>ACA348172661GLI2c.3146T>A (p.Val1049Glu)
c.3197T>A (p.Val1066Glu)
c.*2245T>A (n.*2245T>A)
c.*2296T>A (n.*2296T>A)
c.3179T>A (p.Val1060Glu)
c.3056T>A (p.Val1019Glu)
c.3002T>A (p.Val1001Glu)
c.2822T>A (p.Val941Glu)
c.2771T>A (p.Val924Glu)
c.3449T>A (p.Val1150Glu)
c.3098T>A (p.Val1033Glu)
c.3398T>A (p.Val1133Glu)
2g.120989111T>CCA348172662GLI2c.3146T>C (p.Val1049Ala)
c.3197T>C (p.Val1066Ala)
c.*2245T>C (n.*2245T>C)
c.*2296T>C (n.*2296T>C)
c.3179T>C (p.Val1060Ala)
c.3056T>C (p.Val1019Ala)
c.3002T>C (p.Val1001Ala)
c.2822T>C (p.Val941Ala)
c.2771T>C (p.Val924Ala)
c.3449T>C (p.Val1150Ala)
c.3098T>C (p.Val1033Ala)
c.3398T>C (p.Val1133Ala)
2g.120989111T>GCA348172663GLI2c.3146T>G (p.Val1049Gly)
c.3197T>G (p.Val1066Gly)
c.*2245T>G (n.*2245T>G)
c.*2296T>G (n.*2296T>G)
c.3179T>G (p.Val1060Gly)
c.3056T>G (p.Val1019Gly)
c.3002T>G (p.Val1001Gly)
c.2822T>G (p.Val941Gly)
c.2771T>G (p.Val924Gly)
c.3449T>G (p.Val1150Gly)
c.3098T>G (p.Val1033Gly)
c.3398T>G (p.Val1133Gly)
2g.120989112G>ACA428749741GLI2c.3147G>A (p.Val1049=)
c.3198G>A (p.Val1066=)
c.*2246G>A (n.*2246G>A)
c.*2297G>A (n.*2297G>A)
c.3180G>A (p.Val1060=)
c.3057G>A (p.Val1019=)
c.3003G>A (p.Val1001=)
c.2823G>A (p.Val941=)
c.2772G>A (p.Val924=)
c.3450G>A (p.Val1150=)
c.3099G>A (p.Val1033=)
c.3399G>A (p.Val1133=)
2g.120989112G>CCA428749742GLI2c.3147G>C (p.Val1049=)
c.3198G>C (p.Val1066=)
c.*2246G>C (n.*2246G>C)
c.*2297G>C (n.*2297G>C)
c.3180G>C (p.Val1060=)
c.3057G>C (p.Val1019=)
c.3003G>C (p.Val1001=)
c.2823G>C (p.Val941=)
c.2772G>C (p.Val924=)
c.3450G>C (p.Val1150=)
c.3099G>C (p.Val1033=)
c.3399G>C (p.Val1133=)
 dbSNP gnomAD v2 gnomAD v4
2g.120989112G=CA1283795471GLI2c.3147G= (p.Val1049=)
c.3198G= (p.Val1066=)
c.*2246G= (n.*2246G=)
c.*2297G= (n.*2297G=)
c.3180G= (p.Val1060=)
c.3057G= (p.Val1019=)
c.3003G= (p.Val1001=)
c.2823G= (p.Val941=)
c.2772G= (p.Val924=)
c.3450G= (p.Val1150=)
c.3099G= (p.Val1033=)
c.3399G= (p.Val1133=)
2g.120989112G>TCA428749743GLI2c.3147G>T (p.Val1049=)
c.3198G>T (p.Val1066=)
c.*2246G>T (n.*2246G>T)
c.*2297G>T (n.*2297G>T)
c.3180G>T (p.Val1060=)
c.3057G>T (p.Val1019=)
c.3003G>T (p.Val1001=)
c.2823G>T (p.Val941=)
c.2772G>T (p.Val924=)
c.3450G>T (p.Val1150=)
c.3099G>T (p.Val1033=)
c.3399G>T (p.Val1133=)
2g.120989113G>ACA348172668GLI2c.3148G>A (p.Val1050Met)
c.3199G>A (p.Val1067Met)
c.*2247G>A (n.*2247G>A)
c.*2298G>A (n.*2298G>A)
c.3181G>A (p.Val1061Met)
c.3058G>A (p.Val1020Met)
c.3004G>A (p.Val1002Met)
c.2824G>A (p.Val942Met)
c.2773G>A (p.Val925Met)
c.3451G>A (p.Val1151Met)
c.3100G>A (p.Val1034Met)
c.3400G>A (p.Val1134Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989113G>CCA348172666GLI2c.3148G>C (p.Val1050Leu)
c.3199G>C (p.Val1067Leu)
c.*2247G>C (n.*2247G>C)
c.*2298G>C (n.*2298G>C)
c.3181G>C (p.Val1061Leu)
c.3058G>C (p.Val1020Leu)
c.3004G>C (p.Val1002Leu)
c.2824G>C (p.Val942Leu)
c.2773G>C (p.Val925Leu)
c.3451G>C (p.Val1151Leu)
c.3100G>C (p.Val1034Leu)
c.3400G>C (p.Val1134Leu)
 ClinVar dbSNP gnomAD v4
2g.120989113G=CA1283795472GLI2c.3148G= (p.Val1050=)
c.3199G= (p.Val1067=)
c.*2247G= (n.*2247G=)
c.*2298G= (n.*2298G=)
c.3181G= (p.Val1061=)
c.3058G= (p.Val1020=)
c.3004G= (p.Val1002=)
c.2824G= (p.Val942=)
c.2773G= (p.Val925=)
c.3451G= (p.Val1151=)
c.3100G= (p.Val1034=)
c.3400G= (p.Val1134=)
2g.120989113G>TCA348172664GLI2c.3148G>T (p.Val1050Leu)
c.3199G>T (p.Val1067Leu)
c.*2247G>T (n.*2247G>T)
c.*2298G>T (n.*2298G>T)
c.3181G>T (p.Val1061Leu)
c.3058G>T (p.Val1020Leu)
c.3004G>T (p.Val1002Leu)
c.2824G>T (p.Val942Leu)
c.2773G>T (p.Val925Leu)
c.3451G>T (p.Val1151Leu)
c.3100G>T (p.Val1034Leu)
c.3400G>T (p.Val1134Leu)
2g.120989114T>ACA348172670GLI2c.3149T>A (p.Val1050Glu)
c.3200T>A (p.Val1067Glu)
c.*2248T>A (n.*2248T>A)
c.*2299T>A (n.*2299T>A)
c.3182T>A (p.Val1061Glu)
c.3059T>A (p.Val1020Glu)
c.3005T>A (p.Val1002Glu)
c.2825T>A (p.Val942Glu)
c.2774T>A (p.Val925Glu)
c.3452T>A (p.Val1151Glu)
c.3101T>A (p.Val1034Glu)
c.3401T>A (p.Val1134Glu)
2g.120989114T>CCA348172671GLI2c.3149T>C (p.Val1050Ala)
c.3200T>C (p.Val1067Ala)
c.*2248T>C (n.*2248T>C)
c.*2299T>C (n.*2299T>C)
c.3182T>C (p.Val1061Ala)
c.3059T>C (p.Val1020Ala)
c.3005T>C (p.Val1002Ala)
c.2825T>C (p.Val942Ala)
c.2774T>C (p.Val925Ala)
c.3452T>C (p.Val1151Ala)
c.3101T>C (p.Val1034Ala)
c.3401T>C (p.Val1134Ala)
 gnomAD v4
2g.120989114T>GCA348172673GLI2c.3149T>G (p.Val1050Gly)
c.3200T>G (p.Val1067Gly)
c.*2248T>G (n.*2248T>G)
c.*2299T>G (n.*2299T>G)
c.3182T>G (p.Val1061Gly)
c.3059T>G (p.Val1020Gly)
c.3005T>G (p.Val1002Gly)
c.2825T>G (p.Val942Gly)
c.2774T>G (p.Val925Gly)
c.3452T>G (p.Val1151Gly)
c.3101T>G (p.Val1034Gly)
c.3401T>G (p.Val1134Gly)
2g.120989115G>ACA428749749GLI2c.3150G>A (p.Val1050=)
c.3201G>A (p.Val1067=)
c.*2249G>A (n.*2249G>A)
c.*2300G>A (n.*2300G>A)
c.3183G>A (p.Val1061=)
c.3060G>A (p.Val1020=)
c.3006G>A (p.Val1002=)
c.2826G>A (p.Val942=)
c.2775G>A (p.Val925=)
c.3453G>A (p.Val1151=)
c.3102G>A (p.Val1034=)
c.3402G>A (p.Val1134=)
 dbSNP gnomAD v2 gnomAD v4
2g.120989115G>CCA428749751GLI2c.3150G>C (p.Val1050=)
c.3201G>C (p.Val1067=)
c.*2249G>C (n.*2249G>C)
c.*2300G>C (n.*2300G>C)
c.3183G>C (p.Val1061=)
c.3060G>C (p.Val1020=)
c.3006G>C (p.Val1002=)
c.2826G>C (p.Val942=)
c.2775G>C (p.Val925=)
c.3453G>C (p.Val1151=)
c.3102G>C (p.Val1034=)
c.3402G>C (p.Val1134=)
2g.120989115G=CA1283795473GLI2c.3150G= (p.Val1050=)
c.3201G= (p.Val1067=)
c.*2249G= (n.*2249G=)
c.*2300G= (n.*2300G=)
c.3183G= (p.Val1061=)
c.3060G= (p.Val1020=)
c.3006G= (p.Val1002=)
c.2826G= (p.Val942=)
c.2775G= (p.Val925=)
c.3453G= (p.Val1151=)
c.3102G= (p.Val1034=)
c.3402G= (p.Val1134=)
2g.120989115G>TCA428749752GLI2c.3150G>T (p.Val1050=)
c.3201G>T (p.Val1067=)
c.*2249G>T (n.*2249G>T)
c.*2300G>T (n.*2300G>T)
c.3183G>T (p.Val1061=)
c.3060G>T (p.Val1020=)
c.3006G>T (p.Val1002=)
c.2826G>T (p.Val942=)
c.2775G>T (p.Val925=)
c.3453G>T (p.Val1151=)
c.3102G>T (p.Val1034=)
c.3402G>T (p.Val1134=)
2g.120989116C>ACA348172677GLI2c.3151C>A (p.Gln1051Lys)
c.3202C>A (p.Gln1068Lys)
c.*2250C>A (n.*2250C>A)
c.*2301C>A (n.*2301C>A)
c.3184C>A (p.Gln1062Lys)
c.3061C>A (p.Gln1021Lys)
c.3007C>A (p.Gln1003Lys)
c.2827C>A (p.Gln943Lys)
c.2776C>A (p.Gln926Lys)
c.3454C>A (p.Gln1152Lys)
c.3103C>A (p.Gln1035Lys)
c.3403C>A (p.Gln1135Lys)
2g.120989116C>GCA348172679GLI2c.3151C>G (p.Gln1051Glu)
c.3202C>G (p.Gln1068Glu)
c.*2250C>G (n.*2250C>G)
c.*2301C>G (n.*2301C>G)
c.3184C>G (p.Gln1062Glu)
c.3061C>G (p.Gln1021Glu)
c.3007C>G (p.Gln1003Glu)
c.2827C>G (p.Gln943Glu)
c.2776C>G (p.Gln926Glu)
c.3454C>G (p.Gln1152Glu)
c.3103C>G (p.Gln1035Glu)
c.3403C>G (p.Gln1135Glu)
 dbSNP
2g.120989116C>TCA348172683GLI2c.3151C>T (p.Gln1051Ter)
c.3202C>T (p.Gln1068Ter)
c.*2250C>T (n.*2250C>T)
c.*2301C>T (n.*2301C>T)
c.3184C>T (p.Gln1062Ter)
c.3061C>T (p.Gln1021Ter)
c.3007C>T (p.Gln1003Ter)
c.2827C>T (p.Gln943Ter)
c.2776C>T (p.Gln926Ter)
c.3454C>T (p.Gln1152Ter)
c.3103C>T (p.Gln1035Ter)
c.3403C>T (p.Gln1135Ter)
2g.120989117A=CA1283795474GLI2c.3152A= (p.Gln1051=)
c.3203A= (p.Gln1068=)
c.*2251A= (n.*2251A=)
c.*2302A= (n.*2302A=)
c.3185A= (p.Gln1062=)
c.3062A= (p.Gln1021=)
c.3008A= (p.Gln1003=)
c.2828A= (p.Gln943=)
c.2777A= (p.Gln926=)
c.3455A= (p.Gln1152=)
c.3104A= (p.Gln1035=)
c.3404A= (p.Gln1135=)
2g.120989117A>CCA348172689GLI2c.3152A>C (p.Gln1051Pro)
c.3203A>C (p.Gln1068Pro)
c.*2251A>C (n.*2251A>C)
c.*2302A>C (n.*2302A>C)
c.3185A>C (p.Gln1062Pro)
c.3062A>C (p.Gln1021Pro)
c.3008A>C (p.Gln1003Pro)
c.2828A>C (p.Gln943Pro)
c.2777A>C (p.Gln926Pro)
c.3455A>C (p.Gln1152Pro)
c.3104A>C (p.Gln1035Pro)
c.3404A>C (p.Gln1135Pro)
2g.120989117A>GCA348172686GLI2c.3152A>G (p.Gln1051Arg)
c.3203A>G (p.Gln1068Arg)
c.*2251A>G (n.*2251A>G)
c.*2302A>G (n.*2302A>G)
c.3185A>G (p.Gln1062Arg)
c.3062A>G (p.Gln1021Arg)
c.3008A>G (p.Gln1003Arg)
c.2828A>G (p.Gln943Arg)
c.2777A>G (p.Gln926Arg)
c.3455A>G (p.Gln1152Arg)
c.3104A>G (p.Gln1035Arg)
c.3404A>G (p.Gln1135Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.120989117A>TCA348172687GLI2c.3152A>T (p.Gln1051Leu)
c.3203A>T (p.Gln1068Leu)
c.*2251A>T (n.*2251A>T)
c.*2302A>T (n.*2302A>T)
c.3185A>T (p.Gln1062Leu)
c.3062A>T (p.Gln1021Leu)
c.3008A>T (p.Gln1003Leu)
c.2828A>T (p.Gln943Leu)
c.2777A>T (p.Gln926Leu)
c.3455A>T (p.Gln1152Leu)
c.3104A>T (p.Gln1035Leu)
c.3404A>T (p.Gln1135Leu)
2g.120989118G>ACA428749756GLI2c.3153G>A (p.Gln1051=)
c.3204G>A (p.Gln1068=)
c.*2252G>A (n.*2252G>A)
c.*2303G>A (n.*2303G>A)
c.3186G>A (p.Gln1062=)
c.3063G>A (p.Gln1021=)
c.3009G>A (p.Gln1003=)
c.2829G>A (p.Gln943=)
c.2778G>A (p.Gln926=)
c.3456G>A (p.Gln1152=)
c.3105G>A (p.Gln1035=)
c.3405G>A (p.Gln1135=)
 gnomAD v4 COSMIC
2g.120989118G>CCA348172690GLI2c.3153G>C (p.Gln1051His)
c.3204G>C (p.Gln1068His)
c.*2252G>C (n.*2252G>C)
c.*2303G>C (n.*2303G>C)
c.3186G>C (p.Gln1062His)
c.3063G>C (p.Gln1021His)
c.3009G>C (p.Gln1003His)
c.2829G>C (p.Gln943His)
c.2778G>C (p.Gln926His)
c.3456G>C (p.Gln1152His)
c.3105G>C (p.Gln1035His)
c.3405G>C (p.Gln1135His)
2g.120989118G>TCA348172691GLI2c.3153G>T (p.Gln1051His)
c.3204G>T (p.Gln1068His)
c.*2252G>T (n.*2252G>T)
c.*2303G>T (n.*2303G>T)
c.3186G>T (p.Gln1062His)
c.3063G>T (p.Gln1021His)
c.3009G>T (p.Gln1003His)
c.2829G>T (p.Gln943His)
c.2778G>T (p.Gln926His)
c.3456G>T (p.Gln1152His)
c.3105G>T (p.Gln1035His)
c.3405G>T (p.Gln1135His)
2g.120989119T>ACA348172692GLI2c.3154T>A (p.Tyr1052Asn)
c.3205T>A (p.Tyr1069Asn)
c.*2253T>A (n.*2253T>A)
c.*2304T>A (n.*2304T>A)
c.3187T>A (p.Tyr1063Asn)
c.3064T>A (p.Tyr1022Asn)
c.3010T>A (p.Tyr1004Asn)
c.2830T>A (p.Tyr944Asn)
c.2779T>A (p.Tyr927Asn)
c.3457T>A (p.Tyr1153Asn)
c.3106T>A (p.Tyr1036Asn)
c.3406T>A (p.Tyr1136Asn)
 dbSNP gnomAD v2
2g.120989119T>CCA348172693GLI2c.3154T>C (p.Tyr1052His)
c.3205T>C (p.Tyr1069His)
c.*2253T>C (n.*2253T>C)
c.*2304T>C (n.*2304T>C)
c.3187T>C (p.Tyr1063His)
c.3064T>C (p.Tyr1022His)
c.3010T>C (p.Tyr1004His)
c.2830T>C (p.Tyr944His)
c.2779T>C (p.Tyr927His)
c.3457T>C (p.Tyr1153His)
c.3106T>C (p.Tyr1036His)
c.3406T>C (p.Tyr1136His)
2g.120989119T>GCA348172694GLI2c.3154T>G (p.Tyr1052Asp)
c.3205T>G (p.Tyr1069Asp)
c.*2253T>G (n.*2253T>G)
c.*2304T>G (n.*2304T>G)
c.3187T>G (p.Tyr1063Asp)
c.3064T>G (p.Tyr1022Asp)
c.3010T>G (p.Tyr1004Asp)
c.2830T>G (p.Tyr944Asp)
c.2779T>G (p.Tyr927Asp)
c.3457T>G (p.Tyr1153Asp)
c.3106T>G (p.Tyr1036Asp)
c.3406T>G (p.Tyr1136Asp)
 gnomAD v4
2g.120989119T=CA1283795475GLI2c.3154T= (p.Tyr1052=)
c.3205T= (p.Tyr1069=)
c.*2253T= (n.*2253T=)
c.*2304T= (n.*2304T=)
c.3187T= (p.Tyr1063=)
c.3064T= (p.Tyr1022=)
c.3010T= (p.Tyr1004=)
c.2830T= (p.Tyr944=)
c.2779T= (p.Tyr927=)
c.3457T= (p.Tyr1153=)
c.3106T= (p.Tyr1036=)
c.3406T= (p.Tyr1136=)
2g.120989120A>CCA348172697GLI2c.3155A>C (p.Tyr1052Ser)
c.3206A>C (p.Tyr1069Ser)
c.*2254A>C (n.*2254A>C)
c.*2305A>C (n.*2305A>C)
c.3188A>C (p.Tyr1063Ser)
c.3065A>C (p.Tyr1022Ser)
c.3011A>C (p.Tyr1004Ser)
c.2831A>C (p.Tyr944Ser)
c.2780A>C (p.Tyr927Ser)
c.3458A>C (p.Tyr1153Ser)
c.3107A>C (p.Tyr1036Ser)
c.3407A>C (p.Tyr1136Ser)
2g.120989120A>GCA348172700GLI2c.3155A>G (p.Tyr1052Cys)
c.3206A>G (p.Tyr1069Cys)
c.*2254A>G (n.*2254A>G)
c.*2305A>G (n.*2305A>G)
c.3188A>G (p.Tyr1063Cys)
c.3065A>G (p.Tyr1022Cys)
c.3011A>G (p.Tyr1004Cys)
c.2831A>G (p.Tyr944Cys)
c.2780A>G (p.Tyr927Cys)
c.3458A>G (p.Tyr1153Cys)
c.3107A>G (p.Tyr1036Cys)
c.3407A>G (p.Tyr1136Cys)
2g.120989120A>TCA348172699GLI2c.3155A>T (p.Tyr1052Phe)
c.3206A>T (p.Tyr1069Phe)
c.*2254A>T (n.*2254A>T)
c.*2305A>T (n.*2305A>T)
c.3188A>T (p.Tyr1063Phe)
c.3065A>T (p.Tyr1022Phe)
c.3011A>T (p.Tyr1004Phe)
c.2831A>T (p.Tyr944Phe)
c.2780A>T (p.Tyr927Phe)
c.3458A>T (p.Tyr1153Phe)
c.3107A>T (p.Tyr1036Phe)
c.3407A>T (p.Tyr1136Phe)
2g.120989121C>ACA348172703GLI2c.3156C>A (p.Tyr1052Ter)
c.3207C>A (p.Tyr1069Ter)
c.*2255C>A (n.*2255C>A)
c.*2306C>A (n.*2306C>A)
c.3189C>A (p.Tyr1063Ter)
c.3066C>A (p.Tyr1022Ter)
c.3012C>A (p.Tyr1004Ter)
c.2832C>A (p.Tyr944Ter)
c.2781C>A (p.Tyr927Ter)
c.3459C>A (p.Tyr1153Ter)
c.3108C>A (p.Tyr1036Ter)
c.3408C>A (p.Tyr1136Ter)
2g.120989121C=CA1283795476GLI2c.3156C= (p.Tyr1052=)
c.3207C= (p.Tyr1069=)
c.*2255C= (n.*2255C=)
c.*2306C= (n.*2306C=)
c.3189C= (p.Tyr1063=)
c.3066C= (p.Tyr1022=)
c.3012C= (p.Tyr1004=)
c.2832C= (p.Tyr944=)
c.2781C= (p.Tyr927=)
c.3459C= (p.Tyr1153=)
c.3108C= (p.Tyr1036=)
c.3408C= (p.Tyr1136=)
2g.120989121C>GCA348172705GLI2c.3156C>G (p.Tyr1052Ter)
c.3207C>G (p.Tyr1069Ter)
c.*2255C>G (n.*2255C>G)
c.*2306C>G (n.*2306C>G)
c.3189C>G (p.Tyr1063Ter)
c.3066C>G (p.Tyr1022Ter)
c.3012C>G (p.Tyr1004Ter)
c.2832C>G (p.Tyr944Ter)
c.2781C>G (p.Tyr927Ter)
c.3459C>G (p.Tyr1153Ter)
c.3108C>G (p.Tyr1036Ter)
c.3408C>G (p.Tyr1136Ter)
2g.120989121C>TCA54383948GLI2c.3156C>T (p.Tyr1052=)
c.3207C>T (p.Tyr1069=)
c.*2255C>T (n.*2255C>T)
c.*2306C>T (n.*2306C>T)
c.3189C>T (p.Tyr1063=)
c.3066C>T (p.Tyr1022=)
c.3012C>T (p.Tyr1004=)
c.2832C>T (p.Tyr944=)
c.2781C>T (p.Tyr927=)
c.3459C>T (p.Tyr1153=)
c.3108C>T (p.Tyr1036=)
c.3408C>T (p.Tyr1136=)
 dbSNP gnomAD v3 gnomAD v4
2g.120989122A=CA1283795477GLI2c.3157A= (p.Ile1053=)
c.3208A= (p.Ile1070=)
c.*2256A= (n.*2256A=)
c.*2307A= (n.*2307A=)
c.3190A= (p.Ile1064=)
c.3067A= (p.Ile1023=)
c.3013A= (p.Ile1005=)
c.2833A= (p.Ile945=)
c.2782A= (p.Ile928=)
c.3460A= (p.Ile1154=)
c.3109A= (p.Ile1037=)
c.3409A= (p.Ile1137=)
2g.120989122A>CCA348172708GLI2c.3157A>C (p.Ile1053Leu)
c.3208A>C (p.Ile1070Leu)
c.*2256A>C (n.*2256A>C)
c.*2307A>C (n.*2307A>C)
c.3190A>C (p.Ile1064Leu)
c.3067A>C (p.Ile1023Leu)
c.3013A>C (p.Ile1005Leu)
c.2833A>C (p.Ile945Leu)
c.2782A>C (p.Ile928Leu)
c.3460A>C (p.Ile1154Leu)
c.3109A>C (p.Ile1037Leu)
c.3409A>C (p.Ile1137Leu)
2g.120989122A>GCA348172709GLI2c.3157A>G (p.Ile1053Val)
c.3208A>G (p.Ile1070Val)
c.*2256A>G (n.*2256A>G)
c.*2307A>G (n.*2307A>G)
c.3190A>G (p.Ile1064Val)
c.3067A>G (p.Ile1023Val)
c.3013A>G (p.Ile1005Val)
c.2833A>G (p.Ile945Val)
c.2782A>G (p.Ile928Val)
c.3460A>G (p.Ile1154Val)
c.3109A>G (p.Ile1037Val)
c.3409A>G (p.Ile1137Val)
 dbSNP gnomAD v2 gnomAD v4
2g.120989122A>TCA348172711GLI2c.3157A>T (p.Ile1053Phe)
c.3208A>T (p.Ile1070Phe)
c.*2256A>T (n.*2256A>T)
c.*2307A>T (n.*2307A>T)
c.3190A>T (p.Ile1064Phe)
c.3067A>T (p.Ile1023Phe)
c.3013A>T (p.Ile1005Phe)
c.2833A>T (p.Ile945Phe)
c.2782A>T (p.Ile928Phe)
c.3460A>T (p.Ile1154Phe)
c.3109A>T (p.Ile1037Phe)
c.3409A>T (p.Ile1137Phe)
2g.120989123T>ACA348172714GLI2c.3158T>A (p.Ile1053Asn)
c.3209T>A (p.Ile1070Asn)
c.*2257T>A (n.*2257T>A)
c.*2308T>A (n.*2308T>A)
c.3191T>A (p.Ile1064Asn)
c.3068T>A (p.Ile1023Asn)
c.3014T>A (p.Ile1005Asn)
c.2834T>A (p.Ile945Asn)
c.2783T>A (p.Ile928Asn)
c.3461T>A (p.Ile1154Asn)
c.3110T>A (p.Ile1037Asn)
c.3410T>A (p.Ile1137Asn)
2g.120989123T>CCA348172715GLI2c.3158T>C (p.Ile1053Thr)
c.3209T>C (p.Ile1070Thr)
c.*2257T>C (n.*2257T>C)
c.*2308T>C (n.*2308T>C)
c.3191T>C (p.Ile1064Thr)
c.3068T>C (p.Ile1023Thr)
c.3014T>C (p.Ile1005Thr)
c.2834T>C (p.Ile945Thr)
c.2783T>C (p.Ile928Thr)
c.3461T>C (p.Ile1154Thr)
c.3110T>C (p.Ile1037Thr)
c.3410T>C (p.Ile1137Thr)
2g.120989123T>GCA348172716GLI2c.3158T>G (p.Ile1053Ser)
c.3209T>G (p.Ile1070Ser)
c.*2257T>G (n.*2257T>G)
c.*2308T>G (n.*2308T>G)
c.3191T>G (p.Ile1064Ser)
c.3068T>G (p.Ile1023Ser)
c.3014T>G (p.Ile1005Ser)
c.2834T>G (p.Ile945Ser)
c.2783T>G (p.Ile928Ser)
c.3461T>G (p.Ile1154Ser)
c.3110T>G (p.Ile1037Ser)
c.3410T>G (p.Ile1137Ser)
2g.120989124C>ACA428749761GLI2c.3159C>A (p.Ile1053=)
c.3210C>A (p.Ile1070=)
c.*2258C>A (n.*2258C>A)
c.*2309C>A (n.*2309C>A)
c.3192C>A (p.Ile1064=)
c.3069C>A (p.Ile1023=)
c.3015C>A (p.Ile1005=)
c.2835C>A (p.Ile945=)
c.2784C>A (p.Ile928=)
c.3462C>A (p.Ile1154=)
c.3111C>A (p.Ile1037=)
c.3411C>A (p.Ile1137=)
2g.120989124C=CA1283795478GLI2c.3159C= (p.Ile1053=)
c.3210C= (p.Ile1070=)
c.*2258C= (n.*2258C=)
c.*2309C= (n.*2309C=)
c.3192C= (p.Ile1064=)
c.3069C= (p.Ile1023=)
c.3015C= (p.Ile1005=)
c.2835C= (p.Ile945=)
c.2784C= (p.Ile928=)
c.3462C= (p.Ile1154=)
c.3111C= (p.Ile1037=)
c.3411C= (p.Ile1137=)
2g.120989124C>GCA348172717GLI2c.3159C>G (p.Ile1053Met)
c.3210C>G (p.Ile1070Met)
c.*2258C>G (n.*2258C>G)
c.*2309C>G (n.*2309C>G)
c.3192C>G (p.Ile1064Met)
c.3069C>G (p.Ile1023Met)
c.3015C>G (p.Ile1005Met)
c.2835C>G (p.Ile945Met)
c.2784C>G (p.Ile928Met)
c.3462C>G (p.Ile1154Met)
c.3111C>G (p.Ile1037Met)
c.3411C>G (p.Ile1137Met)
2g.120989124C>TCA428749763GLI2c.3159C>T (p.Ile1053=)
c.3210C>T (p.Ile1070=)
c.*2258C>T (n.*2258C>T)
c.*2309C>T (n.*2309C>T)
c.3192C>T (p.Ile1064=)
c.3069C>T (p.Ile1023=)
c.3015C>T (p.Ile1005=)
c.2835C>T (p.Ile945=)
c.2784C>T (p.Ile928=)
c.3462C>T (p.Ile1154=)
c.3111C>T (p.Ile1037=)
c.3411C>T (p.Ile1137=)
 dbSNP gnomAD v4
2g.120989125A=CA1283795479GLI2c.3160A= (p.Lys1054=)
c.3211A= (p.Lys1071=)
c.*2259A= (n.*2259A=)
c.*2310A= (n.*2310A=)
c.3193A= (p.Lys1065=)
c.3070A= (p.Lys1024=)
c.3016A= (p.Lys1006=)
c.2836A= (p.Lys946=)
c.2785A= (p.Lys929=)
c.3463A= (p.Lys1155=)
c.3112A= (p.Lys1038=)
c.3412A= (p.Lys1138=)
2g.120989125A>CCA1852336GLI2c.3160A>C (p.Lys1054Gln)
c.3211A>C (p.Lys1071Gln)
c.*2259A>C (n.*2259A>C)
c.*2310A>C (n.*2310A>C)
c.3193A>C (p.Lys1065Gln)
c.3070A>C (p.Lys1024Gln)
c.3016A>C (p.Lys1006Gln)
c.2836A>C (p.Lys946Gln)
c.2785A>C (p.Lys929Gln)
c.3463A>C (p.Lys1155Gln)
c.3112A>C (p.Lys1038Gln)
c.3412A>C (p.Lys1138Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989125A>GCA1852335GLI2c.3160A>G (p.Lys1054Glu)
c.3211A>G (p.Lys1071Glu)
c.*2259A>G (n.*2259A>G)
c.*2310A>G (n.*2310A>G)
c.3193A>G (p.Lys1065Glu)
c.3070A>G (p.Lys1024Glu)
c.3016A>G (p.Lys1006Glu)
c.2836A>G (p.Lys946Glu)
c.2785A>G (p.Lys929Glu)
c.3463A>G (p.Lys1155Glu)
c.3112A>G (p.Lys1038Glu)
c.3412A>G (p.Lys1138Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989125A>TCA348172720GLI2c.3160A>T (p.Lys1054Ter)
c.3211A>T (p.Lys1071Ter)
c.*2259A>T (n.*2259A>T)
c.*2310A>T (n.*2310A>T)
c.3193A>T (p.Lys1065Ter)
c.3070A>T (p.Lys1024Ter)
c.3016A>T (p.Lys1006Ter)
c.2836A>T (p.Lys946Ter)
c.2785A>T (p.Lys929Ter)
c.3463A>T (p.Lys1155Ter)
c.3112A>T (p.Lys1038Ter)
c.3412A>T (p.Lys1138Ter)
2g.120989126A>CCA348172722GLI2c.3161A>C (p.Lys1054Thr)
c.3212A>C (p.Lys1071Thr)
c.*2260A>C (n.*2260A>C)
c.*2311A>C (n.*2311A>C)
c.3194A>C (p.Lys1065Thr)
c.3071A>C (p.Lys1024Thr)
c.3017A>C (p.Lys1006Thr)
c.2837A>C (p.Lys946Thr)
c.2786A>C (p.Lys929Thr)
c.3464A>C (p.Lys1155Thr)
c.3113A>C (p.Lys1038Thr)
c.3413A>C (p.Lys1138Thr)
2g.120989126A>GCA348172724GLI2c.3161A>G (p.Lys1054Arg)
c.3212A>G (p.Lys1071Arg)
c.*2260A>G (n.*2260A>G)
c.*2311A>G (n.*2311A>G)
c.3194A>G (p.Lys1065Arg)
c.3071A>G (p.Lys1024Arg)
c.3017A>G (p.Lys1006Arg)
c.2837A>G (p.Lys946Arg)
c.2786A>G (p.Lys929Arg)
c.3464A>G (p.Lys1155Arg)
c.3113A>G (p.Lys1038Arg)
c.3413A>G (p.Lys1138Arg)
2g.120989126A>TCA348172723GLI2c.3161A>T (p.Lys1054Met)
c.3212A>T (p.Lys1071Met)
c.*2260A>T (n.*2260A>T)
c.*2311A>T (n.*2311A>T)
c.3194A>T (p.Lys1065Met)
c.3071A>T (p.Lys1024Met)
c.3017A>T (p.Lys1006Met)
c.2837A>T (p.Lys946Met)
c.2786A>T (p.Lys929Met)
c.3464A>T (p.Lys1155Met)
c.3113A>T (p.Lys1038Met)
c.3413A>T (p.Lys1138Met)
2g.120989127G>ACA428749766GLI2c.3162G>A (p.Lys1054=)
c.3213G>A (p.Lys1071=)
c.*2261G>A (n.*2261G>A)
c.*2312G>A (n.*2312G>A)
c.3195G>A (p.Lys1065=)
c.3072G>A (p.Lys1024=)
c.3018G>A (p.Lys1006=)
c.2838G>A (p.Lys946=)
c.2787G>A (p.Lys929=)
c.3465G>A (p.Lys1155=)
c.3114G>A (p.Lys1038=)
c.3414G>A (p.Lys1138=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989127G>CCA348172725GLI2c.3162G>C (p.Lys1054Asn)
c.3213G>C (p.Lys1071Asn)
c.*2261G>C (n.*2261G>C)
c.*2312G>C (n.*2312G>C)
c.3195G>C (p.Lys1065Asn)
c.3072G>C (p.Lys1024Asn)
c.3018G>C (p.Lys1006Asn)
c.2838G>C (p.Lys946Asn)
c.2787G>C (p.Lys929Asn)
c.3465G>C (p.Lys1155Asn)
c.3114G>C (p.Lys1038Asn)
c.3414G>C (p.Lys1138Asn)
2g.120989127G=CA1283795480GLI2c.3162G= (p.Lys1054=)
c.3213G= (p.Lys1071=)
c.*2261G= (n.*2261G=)
c.*2312G= (n.*2312G=)
c.3195G= (p.Lys1065=)
c.3072G= (p.Lys1024=)
c.3018G= (p.Lys1006=)
c.2838G= (p.Lys946=)
c.2787G= (p.Lys929=)
c.3465G= (p.Lys1155=)
c.3114G= (p.Lys1038=)
c.3414G= (p.Lys1138=)
2g.120989127G>TCA348172727GLI2c.3162G>T (p.Lys1054Asn)
c.3213G>T (p.Lys1071Asn)
c.*2261G>T (n.*2261G>T)
c.*2312G>T (n.*2312G>T)
c.3195G>T (p.Lys1065Asn)
c.3072G>T (p.Lys1024Asn)
c.3018G>T (p.Lys1006Asn)
c.2838G>T (p.Lys946Asn)
c.2787G>T (p.Lys929Asn)
c.3465G>T (p.Lys1155Asn)
c.3114G>T (p.Lys1038Asn)
c.3414G>T (p.Lys1138Asn)
2g.120989128G>ACA348172729GLI2c.3163G>A (p.Ala1055Thr)
c.3214G>A (p.Ala1072Thr)
c.*2262G>A (n.*2262G>A)
c.*2313G>A (n.*2313G>A)
c.3196G>A (p.Ala1066Thr)
c.3073G>A (p.Ala1025Thr)
c.3019G>A (p.Ala1007Thr)
c.2839G>A (p.Ala947Thr)
c.2788G>A (p.Ala930Thr)
c.3466G>A (p.Ala1156Thr)
c.3115G>A (p.Ala1039Thr)
c.3415G>A (p.Ala1139Thr)
 gnomAD v4
2g.120989128G>CCA348172733GLI2c.3163G>C (p.Ala1055Pro)
c.3214G>C (p.Ala1072Pro)
c.*2262G>C (n.*2262G>C)
c.*2313G>C (n.*2313G>C)
c.3196G>C (p.Ala1066Pro)
c.3073G>C (p.Ala1025Pro)
c.3019G>C (p.Ala1007Pro)
c.2839G>C (p.Ala947Pro)
c.2788G>C (p.Ala930Pro)
c.3466G>C (p.Ala1156Pro)
c.3115G>C (p.Ala1039Pro)
c.3415G>C (p.Ala1139Pro)
2g.120989128G>TCA348172734GLI2c.3163G>T (p.Ala1055Ser)
c.3214G>T (p.Ala1072Ser)
c.*2262G>T (n.*2262G>T)
c.*2313G>T (n.*2313G>T)
c.3196G>T (p.Ala1066Ser)
c.3073G>T (p.Ala1025Ser)
c.3019G>T (p.Ala1007Ser)
c.2839G>T (p.Ala947Ser)
c.2788G>T (p.Ala930Ser)
c.3466G>T (p.Ala1156Ser)
c.3115G>T (p.Ala1039Ser)
c.3415G>T (p.Ala1139Ser)
2g.120989129C>ACA348172735GLI2c.3164C>A (p.Ala1055Glu)
c.3215C>A (p.Ala1072Glu)
c.*2263C>A (n.*2263C>A)
c.*2314C>A (n.*2314C>A)
c.3197C>A (p.Ala1066Glu)
c.3074C>A (p.Ala1025Glu)
c.3020C>A (p.Ala1007Glu)
c.2840C>A (p.Ala947Glu)
c.2789C>A (p.Ala930Glu)
c.3467C>A (p.Ala1156Glu)
c.3116C>A (p.Ala1039Glu)
c.3416C>A (p.Ala1139Glu)
 gnomAD v4
2g.120989129C=CA1283795481GLI2c.3164C= (p.Ala1055=)
c.3215C= (p.Ala1072=)
c.*2263C= (n.*2263C=)
c.*2314C= (n.*2314C=)
c.3197C= (p.Ala1066=)
c.3074C= (p.Ala1025=)
c.3020C= (p.Ala1007=)
c.2840C= (p.Ala947=)
c.2789C= (p.Ala930=)
c.3467C= (p.Ala1156=)
c.3116C= (p.Ala1039=)
c.3416C= (p.Ala1139=)
2g.120989129C>GCA348172737GLI2c.3164C>G (p.Ala1055Gly)
c.3215C>G (p.Ala1072Gly)
c.*2263C>G (n.*2263C>G)
c.*2314C>G (n.*2314C>G)
c.3197C>G (p.Ala1066Gly)
c.3074C>G (p.Ala1025Gly)
c.3020C>G (p.Ala1007Gly)
c.2840C>G (p.Ala947Gly)
c.2789C>G (p.Ala930Gly)
c.3467C>G (p.Ala1156Gly)
c.3116C>G (p.Ala1039Gly)
c.3416C>G (p.Ala1139Gly)
2g.120989129C>TCA348172739GLI2c.3164C>T (p.Ala1055Val)
c.3215C>T (p.Ala1072Val)
c.*2263C>T (n.*2263C>T)
c.*2314C>T (n.*2314C>T)
c.3197C>T (p.Ala1066Val)
c.3074C>T (p.Ala1025Val)
c.3020C>T (p.Ala1007Val)
c.2840C>T (p.Ala947Val)
c.2789C>T (p.Ala930Val)
c.3467C>T (p.Ala1156Val)
c.3116C>T (p.Ala1039Val)
c.3416C>T (p.Ala1139Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.120989130G>ACA1852338GLI2c.3165G>A (p.Ala1055=)
c.3216G>A (p.Ala1072=)
c.*2264G>A (n.*2264G>A)
c.*2315G>A (n.*2315G>A)
c.3198G>A (p.Ala1066=)
c.3075G>A (p.Ala1025=)
c.3021G>A (p.Ala1007=)
c.2841G>A (p.Ala947=)
c.2790G>A (p.Ala930=)
c.3468G>A (p.Ala1156=)
c.3117G>A (p.Ala1039=)
c.3417G>A (p.Ala1139=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.120989130G>CCA428749770GLI2c.3165G>C (p.Ala1055=)
c.3216G>C (p.Ala1072=)
c.*2264G>C (n.*2264G>C)
c.*2315G>C (n.*2315G>C)
c.3198G>C (p.Ala1066=)
c.3075G>C (p.Ala1025=)
c.3021G>C (p.Ala1007=)
c.2841G>C (p.Ala947=)
c.2790G>C (p.Ala930=)
c.3468G>C (p.Ala1156=)
c.3117G>C (p.Ala1039=)
c.3417G>C (p.Ala1139=)
2g.120989130G=CA1283795482GLI2c.3165G= (p.Ala1055=)
c.3216G= (p.Ala1072=)
c.*2264G= (n.*2264G=)
c.*2315G= (n.*2315G=)
c.3198G= (p.Ala1066=)
c.3075G= (p.Ala1025=)
c.3021G= (p.Ala1007=)
c.2841G= (p.Ala947=)
c.2790G= (p.Ala930=)
c.3468G= (p.Ala1156=)
c.3117G= (p.Ala1039=)
c.3417G= (p.Ala1139=)
2g.120989130G>TCA1852337GLI2c.3165G>T (p.Ala1055=)
c.3216G>T (p.Ala1072=)
c.*2264G>T (n.*2264G>T)
c.*2315G>T (n.*2315G>T)
c.3198G>T (p.Ala1066=)
c.3075G>T (p.Ala1025=)
c.3021G>T (p.Ala1007=)
c.2841G>T (p.Ala947=)
c.2790G>T (p.Ala930=)
c.3468G>T (p.Ala1156=)
c.3117G>T (p.Ala1039=)
c.3417G>T (p.Ala1139=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.120989131C>ACA348172751GLI2c.3166C>A (p.His1056Asn)
c.3217C>A (p.His1073Asn)
c.*2265C>A (n.*2265C>A)
c.*2316C>A (n.*2316C>A)
c.3199C>A (p.His1067Asn)
c.3076C>A (p.His1026Asn)
c.3022C>A (p.His1008Asn)
c.2842C>A (p.His948Asn)
c.2791C>A (p.His931Asn)
c.3469C>A (p.His1157Asn)
c.3118C>A (p.His1040Asn)
c.3418C>A (p.His1140Asn)
2g.120989131C>GCA348172754GLI2c.3166C>G (p.His1056Asp)
c.3217C>G (p.His1073Asp)
c.*2265C>G (n.*2265C>G)
c.*2316C>G (n.*2316C>G)
c.3199C>G (p.His1067Asp)
c.3076C>G (p.His1026Asp)
c.3022C>G (p.His1008Asp)
c.2842C>G (p.His948Asp)
c.2791C>G (p.His931Asp)
c.3469C>G (p.His1157Asp)
c.3118C>G (p.His1040Asp)
c.3418C>G (p.His1140Asp)
2g.120989131C>TCA348172758GLI2c.3166C>T (p.His1056Tyr)
c.3217C>T (p.His1073Tyr)
c.*2265C>T (n.*2265C>T)
c.*2316C>T (n.*2316C>T)
c.3199C>T (p.His1067Tyr)
c.3076C>T (p.His1026Tyr)
c.3022C>T (p.His1008Tyr)
c.2842C>T (p.His948Tyr)
c.2791C>T (p.His931Tyr)
c.3469C>T (p.His1157Tyr)
c.3118C>T (p.His1040Tyr)
c.3418C>T (p.His1140Tyr)
2g.120989132A>CCA348172762GLI2c.3167A>C (p.His1056Pro)
c.3218A>C (p.His1073Pro)
c.*2266A>C (n.*2266A>C)
c.*2317A>C (n.*2317A>C)
c.3200A>C (p.His1067Pro)
c.3077A>C (p.His1026Pro)
c.3023A>C (p.His1008Pro)
c.2843A>C (p.His948Pro)
c.2792A>C (p.His931Pro)
c.3470A>C (p.His1157Pro)
c.3119A>C (p.His1040Pro)
c.3419A>C (p.His1140Pro)
2g.120989132A>GCA348172764GLI2c.3167A>G (p.His1056Arg)
c.3218A>G (p.His1073Arg)
c.*2266A>G (n.*2266A>G)
c.*2317A>G (n.*2317A>G)
c.3200A>G (p.His1067Arg)
c.3077A>G (p.His1026Arg)
c.3023A>G (p.His1008Arg)
c.2843A>G (p.His948Arg)
c.2792A>G (p.His931Arg)
c.3470A>G (p.His1157Arg)
c.3119A>G (p.His1040Arg)
c.3419A>G (p.His1140Arg)
2g.120989132A>TCA348172763GLI2c.3167A>T (p.His1056Leu)
c.3218A>T (p.His1073Leu)
c.*2266A>T (n.*2266A>T)
c.*2317A>T (n.*2317A>T)
c.3200A>T (p.His1067Leu)
c.3077A>T (p.His1026Leu)
c.3023A>T (p.His1008Leu)
c.2843A>T (p.His948Leu)
c.2792A>T (p.His931Leu)
c.3470A>T (p.His1157Leu)
c.3119A>T (p.His1040Leu)
c.3419A>T (p.His1140Leu)
2g.120989132_120989134delinsACGCA1283795483GLI2c.3167_3169delinsACG (p.His1056=)
c.3218_3220delinsACG (p.His1073=)
c.*2266_*2268delinsACG (n.*2266_*2268delinsACG)
c.*2317_*2319delinsACG (n.*2317_*2319delinsACG)
c.3200_3202delinsACG (p.His1067=)
c.3077_3079delinsACG (p.His1026=)
c.3023_3025delinsACG (p.His1008=)
c.2843_2845delinsACG (p.His948=)
c.2792_2794delinsACG (p.His931=)
c.3470_3472delinsACG (p.His1157=)
c.3119_3121delinsACG (p.His1040=)
c.3419_3421delinsACG (p.His1140=)
2g.120989133C>ACA1852339GLI2c.3168C>A (p.His1056Gln)
c.3219C>A (p.His1073Gln)
c.*2267C>A (n.*2267C>A)
c.*2318C>A (n.*2318C>A)
c.3201C>A (p.His1067Gln)
c.3078C>A (p.His1026Gln)
c.3024C>A (p.His1008Gln)
c.2844C>A (p.His948Gln)
c.2793C>A (p.His931Gln)
c.3471C>A (p.His1157Gln)
c.3120C>A (p.His1040Gln)
c.3420C>A (p.His1140Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989133C=CA1283795484GLI2c.3168C= (p.His1056=)
c.3219C= (p.His1073=)
c.*2267C= (n.*2267C=)
c.*2318C= (n.*2318C=)
c.3201C= (p.His1067=)
c.3078C= (p.His1026=)
c.3024C= (p.His1008=)
c.2844C= (p.His948=)
c.2793C= (p.His931=)
c.3471C= (p.His1157=)
c.3120C= (p.His1040=)
c.3420C= (p.His1140=)
2g.120989133C>GCA348172767GLI2c.3168C>G (p.His1056Gln)
c.3219C>G (p.His1073Gln)
c.*2267C>G (n.*2267C>G)
c.*2318C>G (n.*2318C>G)
c.3201C>G (p.His1067Gln)
c.3078C>G (p.His1026Gln)
c.3024C>G (p.His1008Gln)
c.2844C>G (p.His948Gln)
c.2793C>G (p.His931Gln)
c.3471C>G (p.His1157Gln)
c.3120C>G (p.His1040Gln)
c.3420C>G (p.His1140Gln)
2g.120989133C>TCA428749771GLI2c.3168C>T (p.His1056=)
c.3219C>T (p.His1073=)
c.*2267C>T (n.*2267C>T)
c.*2318C>T (n.*2318C>T)
c.3201C>T (p.His1067=)
c.3078C>T (p.His1026=)
c.3024C>T (p.His1008=)
c.2844C>T (p.His948=)
c.2793C>T (p.His931=)
c.3471C>T (p.His1157=)
c.3120C>T (p.His1040=)
c.3420C>T (p.His1140=)
 dbSNP gnomAD v4
2g.120989134_120989135delCA54383971GLI2c.3169_3170del (p.Ala1057GlnfsTer21)
c.3220_3221del (p.Ala1074GlnfsTer21)
c.*2268_*2269del (n.*2268_*2269del)
c.*2319_*2320del (n.*2319_*2320del)
c.3202_3203del (p.Ala1068GlnfsTer21)
c.3079_3080del (p.Ala1027GlnfsTer21)
c.3025_3026del (p.Ala1009GlnfsTer21)
c.2845_2846del (p.Ala949GlnfsTer21)
c.2794_2795del (p.Ala932GlnfsTer21)
c.3472_3473del (p.Ala1158GlnfsTer21)
c.3121_3122del (p.Ala1041GlnfsTer21)
c.3421_3422del (p.Ala1141GlnfsTer21)
 dbSNP
2g.120989134G>ACA348172772GLI2c.3169G>A (p.Ala1057Thr)
c.3220G>A (p.Ala1074Thr)
c.*2268G>A (n.*2268G>A)
c.*2319G>A (n.*2319G>A)
c.3202G>A (p.Ala1068Thr)
c.3079G>A (p.Ala1027Thr)
c.3025G>A (p.Ala1009Thr)
c.2845G>A (p.Ala949Thr)
c.2794G>A (p.Ala932Thr)
c.3472G>A (p.Ala1158Thr)
c.3121G>A (p.Ala1041Thr)
c.3421G>A (p.Ala1141Thr)
 dbSNP
2g.120989134G>CCA348172774GLI2c.3169G>C (p.Ala1057Pro)
c.3220G>C (p.Ala1074Pro)
c.*2268G>C (n.*2268G>C)
c.*2319G>C (n.*2319G>C)
c.3202G>C (p.Ala1068Pro)
c.3079G>C (p.Ala1027Pro)
c.3025G>C (p.Ala1009Pro)
c.2845G>C (p.Ala949Pro)
c.2794G>C (p.Ala932Pro)
c.3472G>C (p.Ala1158Pro)
c.3121G>C (p.Ala1041Pro)
c.3421G>C (p.Ala1141Pro)
2g.120989134G=CA1283795485GLI2c.3169G= (p.Ala1057=)
c.3220G= (p.Ala1074=)
c.*2268G= (n.*2268G=)
c.*2319G= (n.*2319G=)
c.3202G= (p.Ala1068=)
c.3079G= (p.Ala1027=)
c.3025G= (p.Ala1009=)
c.2845G= (p.Ala949=)
c.2794G= (p.Ala932=)
c.3472G= (p.Ala1158=)
c.3121G= (p.Ala1041=)
c.3421G= (p.Ala1141=)
2g.120989134G>TCA348172778GLI2c.3169G>T (p.Ala1057Ser)
c.3220G>T (p.Ala1074Ser)
c.*2268G>T (n.*2268G>T)
c.*2319G>T (n.*2319G>T)
c.3202G>T (p.Ala1068Ser)
c.3079G>T (p.Ala1027Ser)
c.3025G>T (p.Ala1009Ser)
c.2845G>T (p.Ala949Ser)
c.2794G>T (p.Ala932Ser)
c.3472G>T (p.Ala1158Ser)
c.3121G>T (p.Ala1041Ser)
c.3421G>T (p.Ala1141Ser)
 gnomAD v4
2g.120989135C>ACA348172780GLI2c.3170C>A (p.Ala1057Asp)
c.3221C>A (p.Ala1074Asp)
c.*2269C>A (n.*2269C>A)
c.*2320C>A (n.*2320C>A)
c.3203C>A (p.Ala1068Asp)
c.3080C>A (p.Ala1027Asp)
c.3026C>A (p.Ala1009Asp)
c.2846C>A (p.Ala949Asp)
c.2795C>A (p.Ala932Asp)
c.3473C>A (p.Ala1158Asp)
c.3122C>A (p.Ala1041Asp)
c.3422C>A (p.Ala1141Asp)
2g.120989135C=CA1283795486GLI2c.3170C= (p.Ala1057=)
c.3221C= (p.Ala1074=)
c.*2269C= (n.*2269C=)
c.*2320C= (n.*2320C=)
c.3203C= (p.Ala1068=)
c.3080C= (p.Ala1027=)
c.3026C= (p.Ala1009=)
c.2846C= (p.Ala949=)
c.2795C= (p.Ala932=)
c.3473C= (p.Ala1158=)
c.3122C= (p.Ala1041=)
c.3422C= (p.Ala1141=)
2g.120989135C>GCA348172782GLI2c.3170C>G (p.Ala1057Gly)
c.3221C>G (p.Ala1074Gly)
c.*2269C>G (n.*2269C>G)
c.*2320C>G (n.*2320C>G)
c.3203C>G (p.Ala1068Gly)
c.3080C>G (p.Ala1027Gly)
c.3026C>G (p.Ala1009Gly)
c.2846C>G (p.Ala949Gly)
c.2795C>G (p.Ala932Gly)
c.3473C>G (p.Ala1158Gly)
c.3122C>G (p.Ala1041Gly)
c.3422C>G (p.Ala1141Gly)
2g.120989135C>TCA348172783GLI2c.3170C>T (p.Ala1057Val)
c.3221C>T (p.Ala1074Val)
c.*2269C>T (n.*2269C>T)
c.*2320C>T (n.*2320C>T)
c.3203C>T (p.Ala1068Val)
c.3080C>T (p.Ala1027Val)
c.3026C>T (p.Ala1009Val)
c.2846C>T (p.Ala949Val)
c.2795C>T (p.Ala932Val)
c.3473C>T (p.Ala1158Val)
c.3122C>T (p.Ala1041Val)
c.3422C>T (p.Ala1141Val)
 dbSNP
2g.120989136C>ACA428749772GLI2c.3171C>A (p.Ala1057=)
c.3222C>A (p.Ala1074=)
c.*2270C>A (n.*2270C>A)
c.*2321C>A (n.*2321C>A)
c.3204C>A (p.Ala1068=)
c.3081C>A (p.Ala1027=)
c.3027C>A (p.Ala1009=)
c.2847C>A (p.Ala949=)
c.2796C>A (p.Ala932=)
c.3474C>A (p.Ala1158=)
c.3123C>A (p.Ala1041=)
c.3423C>A (p.Ala1141=)
2g.120989136C>GCA428749773GLI2c.3171C>G (p.Ala1057=)
c.3222C>G (p.Ala1074=)
c.*2270C>G (n.*2270C>G)
c.*2321C>G (n.*2321C>G)
c.3204C>G (p.Ala1068=)
c.3081C>G (p.Ala1027=)
c.3027C>G (p.Ala1009=)
c.2847C>G (p.Ala949=)
c.2796C>G (p.Ala932=)
c.3474C>G (p.Ala1158=)
c.3123C>G (p.Ala1041=)
c.3423C>G (p.Ala1141=)
2g.120989136C>TCA428749774GLI2c.3171C>T (p.Ala1057=)
c.3222C>T (p.Ala1074=)
c.*2270C>T (n.*2270C>T)
c.*2321C>T (n.*2321C>T)
c.3204C>T (p.Ala1068=)
c.3081C>T (p.Ala1027=)
c.3027C>T (p.Ala1009=)
c.2847C>T (p.Ala949=)
c.2796C>T (p.Ala932=)
c.3474C>T (p.Ala1158=)
c.3123C>T (p.Ala1041=)
c.3423C>T (p.Ala1141=)
 gnomAD v4
2g.120989137A=CA1283795487GLI2c.3172A= (p.Ser1058=)
c.3223A= (p.Ser1075=)
c.*2271A= (n.*2271A=)
c.*2322A= (n.*2322A=)
c.3205A= (p.Ser1069=)
c.3082A= (p.Ser1028=)
c.3028A= (p.Ser1010=)
c.2848A= (p.Ser950=)
c.2797A= (p.Ser933=)
c.3475A= (p.Ser1159=)
c.3124A= (p.Ser1042=)
c.3424A= (p.Ser1142=)
2g.120989137A>CCA348172786GLI2c.3172A>C (p.Ser1058Arg)
c.3223A>C (p.Ser1075Arg)
c.*2271A>C (n.*2271A>C)
c.*2322A>C (n.*2322A>C)
c.3205A>C (p.Ser1069Arg)
c.3082A>C (p.Ser1028Arg)
c.3028A>C (p.Ser1010Arg)
c.2848A>C (p.Ser950Arg)
c.2797A>C (p.Ser933Arg)
c.3475A>C (p.Ser1159Arg)
c.3124A>C (p.Ser1042Arg)
c.3424A>C (p.Ser1142Arg)
 dbSNP gnomAD v4
2g.120989137A>GCA348172789GLI2c.3172A>G (p.Ser1058Gly)
c.3223A>G (p.Ser1075Gly)
c.*2271A>G (n.*2271A>G)
c.*2322A>G (n.*2322A>G)
c.3205A>G (p.Ser1069Gly)
c.3082A>G (p.Ser1028Gly)
c.3028A>G (p.Ser1010Gly)
c.2848A>G (p.Ser950Gly)
c.2797A>G (p.Ser933Gly)
c.3475A>G (p.Ser1159Gly)
c.3124A>G (p.Ser1042Gly)
c.3424A>G (p.Ser1142Gly)
 ClinVar gnomAD v4 COSMIC
2g.120989137A>TCA348172796GLI2c.3172A>T (p.Ser1058Cys)
c.3223A>T (p.Ser1075Cys)
c.*2271A>T (n.*2271A>T)
c.*2322A>T (n.*2322A>T)
c.3205A>T (p.Ser1069Cys)
c.3082A>T (p.Ser1028Cys)
c.3028A>T (p.Ser1010Cys)
c.2848A>T (p.Ser950Cys)
c.2797A>T (p.Ser933Cys)
c.3475A>T (p.Ser1159Cys)
c.3124A>T (p.Ser1042Cys)
c.3424A>T (p.Ser1142Cys)
2g.120989138G>ACA348172816GLI2c.3173G>A (p.Ser1058Asn)
c.3224G>A (p.Ser1075Asn)
c.*2272G>A (n.*2272G>A)
c.*2323G>A (n.*2323G>A)
c.3206G>A (p.Ser1069Asn)
c.3083G>A (p.Ser1028Asn)
c.3029G>A (p.Ser1010Asn)
c.2849G>A (p.Ser950Asn)
c.2798G>A (p.Ser933Asn)
c.3476G>A (p.Ser1159Asn)
c.3125G>A (p.Ser1042Asn)
c.3425G>A (p.Ser1142Asn)
2g.120989138G>CCA54383977GLI2c.3173G>C (p.Ser1058Thr)
c.3224G>C (p.Ser1075Thr)
c.*2272G>C (n.*2272G>C)
c.*2323G>C (n.*2323G>C)
c.3206G>C (p.Ser1069Thr)
c.3083G>C (p.Ser1028Thr)
c.3029G>C (p.Ser1010Thr)
c.2849G>C (p.Ser950Thr)
c.2798G>C (p.Ser933Thr)
c.3476G>C (p.Ser1159Thr)
c.3125G>C (p.Ser1042Thr)
c.3425G>C (p.Ser1142Thr)
 dbSNP gnomAD v4
2g.120989138G=CA1283795488GLI2c.3173G= (p.Ser1058=)
c.3224G= (p.Ser1075=)
c.*2272G= (n.*2272G=)
c.*2323G= (n.*2323G=)
c.3206G= (p.Ser1069=)
c.3083G= (p.Ser1028=)
c.3029G= (p.Ser1010=)
c.2849G= (p.Ser950=)
c.2798G= (p.Ser933=)
c.3476G= (p.Ser1159=)
c.3125G= (p.Ser1042=)
c.3425G= (p.Ser1142=)
2g.120989138G>TCA348172811GLI2c.3173G>T (p.Ser1058Ile)
c.3224G>T (p.Ser1075Ile)
c.*2272G>T (n.*2272G>T)
c.*2323G>T (n.*2323G>T)
c.3206G>T (p.Ser1069Ile)
c.3083G>T (p.Ser1028Ile)
c.3029G>T (p.Ser1010Ile)
c.2849G>T (p.Ser950Ile)
c.2798G>T (p.Ser933Ile)
c.3476G>T (p.Ser1159Ile)
c.3125G>T (p.Ser1042Ile)
c.3425G>T (p.Ser1142Ile)
2g.120989139T>ACA348172820GLI2c.3174T>A (p.Ser1058Arg)
c.3225T>A (p.Ser1075Arg)
c.*2273T>A (n.*2273T>A)
c.*2324T>A (n.*2324T>A)
c.3207T>A (p.Ser1069Arg)
c.3084T>A (p.Ser1028Arg)
c.3030T>A (p.Ser1010Arg)
c.2850T>A (p.Ser950Arg)
c.2799T>A (p.Ser933Arg)
c.3477T>A (p.Ser1159Arg)
c.3126T>A (p.Ser1042Arg)
c.3426T>A (p.Ser1142Arg)
2g.120989139T>CCA428749775GLI2c.3174T>C (p.Ser1058=)
c.3225T>C (p.Ser1075=)
c.*2273T>C (n.*2273T>C)
c.*2324T>C (n.*2324T>C)
c.3207T>C (p.Ser1069=)
c.3084T>C (p.Ser1028=)
c.3030T>C (p.Ser1010=)
c.2850T>C (p.Ser950=)
c.2799T>C (p.Ser933=)
c.3477T>C (p.Ser1159=)
c.3126T>C (p.Ser1042=)
c.3426T>C (p.Ser1142=)
2g.120989139T>GCA348172819GLI2c.3174T>G (p.Ser1058Arg)
c.3225T>G (p.Ser1075Arg)
c.*2273T>G (n.*2273T>G)
c.*2324T>G (n.*2324T>G)
c.3207T>G (p.Ser1069Arg)
c.3084T>G (p.Ser1028Arg)
c.3030T>G (p.Ser1010Arg)
c.2850T>G (p.Ser950Arg)
c.2799T>G (p.Ser933Arg)
c.3477T>G (p.Ser1159Arg)
c.3126T>G (p.Ser1042Arg)
c.3426T>G (p.Ser1142Arg)
2g.120989140G>ACA348172827GLI2c.3175G>A (p.Gly1059Ser)
c.3226G>A (p.Gly1076Ser)
c.*2274G>A (n.*2274G>A)
c.*2325G>A (n.*2325G>A)
c.3208G>A (p.Gly1070Ser)
c.3085G>A (p.Gly1029Ser)
c.3031G>A (p.Gly1011Ser)
c.2851G>A (p.Gly951Ser)
c.2800G>A (p.Gly934Ser)
c.3478G>A (p.Gly1160Ser)
c.3127G>A (p.Gly1043Ser)
c.3427G>A (p.Gly1143Ser)
2g.120989140G>CCA348172829GLI2c.3175G>C (p.Gly1059Arg)
c.3226G>C (p.Gly1076Arg)
c.*2274G>C (n.*2274G>C)
c.*2325G>C (n.*2325G>C)
c.3208G>C (p.Gly1070Arg)
c.3085G>C (p.Gly1029Arg)
c.3031G>C (p.Gly1011Arg)
c.2851G>C (p.Gly951Arg)
c.2800G>C (p.Gly934Arg)
c.3478G>C (p.Gly1160Arg)
c.3127G>C (p.Gly1043Arg)
c.3427G>C (p.Gly1143Arg)
 gnomAD v4
2g.120989140G>TCA348172832GLI2c.3175G>T (p.Gly1059Cys)
c.3226G>T (p.Gly1076Cys)
c.*2274G>T (n.*2274G>T)
c.*2325G>T (n.*2325G>T)
c.3208G>T (p.Gly1070Cys)
c.3085G>T (p.Gly1029Cys)
c.3031G>T (p.Gly1011Cys)
c.2851G>T (p.Gly951Cys)
c.2800G>T (p.Gly934Cys)
c.3478G>T (p.Gly1160Cys)
c.3127G>T (p.Gly1043Cys)
c.3427G>T (p.Gly1143Cys)
2g.120989141G>ACA348172835GLI2c.3176G>A (p.Gly1059Asp)
c.3227G>A (p.Gly1076Asp)
c.*2275G>A (n.*2275G>A)
c.*2326G>A (n.*2326G>A)
c.3209G>A (p.Gly1070Asp)
c.3086G>A (p.Gly1029Asp)
c.3032G>A (p.Gly1011Asp)
c.2852G>A (p.Gly951Asp)
c.2801G>A (p.Gly934Asp)
c.3479G>A (p.Gly1160Asp)
c.3128G>A (p.Gly1043Asp)
c.3428G>A (p.Gly1143Asp)
 gnomAD v4
2g.120989141G>CCA348172839GLI2c.3176G>C (p.Gly1059Ala)
c.3227G>C (p.Gly1076Ala)
c.*2275G>C (n.*2275G>C)
c.*2326G>C (n.*2326G>C)
c.3209G>C (p.Gly1070Ala)
c.3086G>C (p.Gly1029Ala)
c.3032G>C (p.Gly1011Ala)
c.2852G>C (p.Gly951Ala)
c.2801G>C (p.Gly934Ala)
c.3479G>C (p.Gly1160Ala)
c.3128G>C (p.Gly1043Ala)
c.3428G>C (p.Gly1143Ala)
2g.120989141G>TCA348172842GLI2c.3176G>T (p.Gly1059Val)
c.3227G>T (p.Gly1076Val)
c.*2275G>T (n.*2275G>T)
c.*2326G>T (n.*2326G>T)
c.3209G>T (p.Gly1070Val)
c.3086G>T (p.Gly1029Val)
c.3032G>T (p.Gly1011Val)
c.2852G>T (p.Gly951Val)
c.2801G>T (p.Gly934Val)
c.3479G>T (p.Gly1160Val)
c.3128G>T (p.Gly1043Val)
c.3428G>T (p.Gly1143Val)
2g.120989142C>ACA428749776GLI2c.3177C>A (p.Gly1059=)
c.3228C>A (p.Gly1076=)
c.*2276C>A (n.*2276C>A)
c.*2327C>A (n.*2327C>A)
c.3210C>A (p.Gly1070=)
c.3087C>A (p.Gly1029=)
c.3033C>A (p.Gly1011=)
c.2853C>A (p.Gly951=)
c.2802C>A (p.Gly934=)
c.3480C>A (p.Gly1160=)
c.3129C>A (p.Gly1043=)
c.3429C>A (p.Gly1143=)
2g.120989142C=CA1283795489GLI2c.3177C= (p.Gly1059=)
c.3228C= (p.Gly1076=)
c.*2276C= (n.*2276C=)
c.*2327C= (n.*2327C=)
c.3210C= (p.Gly1070=)
c.3087C= (p.Gly1029=)
c.3033C= (p.Gly1011=)
c.2853C= (p.Gly951=)
c.2802C= (p.Gly934=)
c.3480C= (p.Gly1160=)
c.3129C= (p.Gly1043=)
c.3429C= (p.Gly1143=)
2g.120989142C>GCA428749777GLI2c.3177C>G (p.Gly1059=)
c.3228C>G (p.Gly1076=)
c.*2276C>G (n.*2276C>G)
c.*2327C>G (n.*2327C>G)
c.3210C>G (p.Gly1070=)
c.3087C>G (p.Gly1029=)
c.3033C>G (p.Gly1011=)
c.2853C>G (p.Gly951=)
c.2802C>G (p.Gly934=)
c.3480C>G (p.Gly1160=)
c.3129C>G (p.Gly1043=)
c.3429C>G (p.Gly1143=)
2g.120989142C>TCA428749778GLI2c.3177C>T (p.Gly1059=)
c.3228C>T (p.Gly1076=)
c.*2276C>T (n.*2276C>T)
c.*2327C>T (n.*2327C>T)
c.3210C>T (p.Gly1070=)
c.3087C>T (p.Gly1029=)
c.3033C>T (p.Gly1011=)
c.2853C>T (p.Gly951=)
c.2802C>T (p.Gly934=)
c.3480C>T (p.Gly1160=)
c.3129C>T (p.Gly1043=)
c.3429C>T (p.Gly1143=)
 dbSNP gnomAD v2 gnomAD v4
2g.120989143G>ACA1852340GLI2c.3178G>A (p.Ala1060Thr)
c.3229G>A (p.Ala1077Thr)
c.*2277G>A (n.*2277G>A)
c.*2328G>A (n.*2328G>A)
c.3211G>A (p.Ala1071Thr)
c.3088G>A (p.Ala1030Thr)
c.3034G>A (p.Ala1012Thr)
c.2854G>A (p.Ala952Thr)
c.2803G>A (p.Ala935Thr)
c.3481G>A (p.Ala1161Thr)
c.3130G>A (p.Ala1044Thr)
c.3430G>A (p.Ala1144Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989143G>CCA348172844GLI2c.3178G>C (p.Ala1060Pro)
c.3229G>C (p.Ala1077Pro)
c.*2277G>C (n.*2277G>C)
c.*2328G>C (n.*2328G>C)
c.3211G>C (p.Ala1071Pro)
c.3088G>C (p.Ala1030Pro)
c.3034G>C (p.Ala1012Pro)
c.2854G>C (p.Ala952Pro)
c.2803G>C (p.Ala935Pro)
c.3481G>C (p.Ala1161Pro)
c.3130G>C (p.Ala1044Pro)
c.3430G>C (p.Ala1144Pro)
2g.120989143G=CA1283795490GLI2c.3178G= (p.Ala1060=)
c.3229G= (p.Ala1077=)
c.*2277G= (n.*2277G=)
c.*2328G= (n.*2328G=)
c.3211G= (p.Ala1071=)
c.3088G= (p.Ala1030=)
c.3034G= (p.Ala1012=)
c.2854G= (p.Ala952=)
c.2803G= (p.Ala935=)
c.3481G= (p.Ala1161=)
c.3130G= (p.Ala1044=)
c.3430G= (p.Ala1144=)
2g.120989143G>TCA348172847GLI2c.3178G>T (p.Ala1060Ser)
c.3229G>T (p.Ala1077Ser)
c.*2277G>T (n.*2277G>T)
c.*2328G>T (n.*2328G>T)
c.3211G>T (p.Ala1071Ser)
c.3088G>T (p.Ala1030Ser)
c.3034G>T (p.Ala1012Ser)
c.2854G>T (p.Ala952Ser)
c.2803G>T (p.Ala935Ser)
c.3481G>T (p.Ala1161Ser)
c.3130G>T (p.Ala1044Ser)
c.3430G>T (p.Ala1144Ser)
 gnomAD v4
2g.120989144C>ACA348172854GLI2c.3179C>A (p.Ala1060Asp)
c.3230C>A (p.Ala1077Asp)
c.*2278C>A (n.*2278C>A)
c.*2329C>A (n.*2329C>A)
c.3212C>A (p.Ala1071Asp)
c.3089C>A (p.Ala1030Asp)
c.3035C>A (p.Ala1012Asp)
c.2855C>A (p.Ala952Asp)
c.2804C>A (p.Ala935Asp)
c.3482C>A (p.Ala1161Asp)
c.3131C>A (p.Ala1044Asp)
c.3431C>A (p.Ala1144Asp)
2g.120989144C=CA1283795491GLI2c.3179C= (p.Ala1060=)
c.3230C= (p.Ala1077=)
c.*2278C= (n.*2278C=)
c.*2329C= (n.*2329C=)
c.3212C= (p.Ala1071=)
c.3089C= (p.Ala1030=)
c.3035C= (p.Ala1012=)
c.2855C= (p.Ala952=)
c.2804C= (p.Ala935=)
c.3482C= (p.Ala1161=)
c.3131C= (p.Ala1044=)
c.3431C= (p.Ala1144=)
2g.120989144C>GCA348172859GLI2c.3179C>G (p.Ala1060Gly)
c.3230C>G (p.Ala1077Gly)
c.*2278C>G (n.*2278C>G)
c.*2329C>G (n.*2329C>G)
c.3212C>G (p.Ala1071Gly)
c.3089C>G (p.Ala1030Gly)
c.3035C>G (p.Ala1012Gly)
c.2855C>G (p.Ala952Gly)
c.2804C>G (p.Ala935Gly)
c.3482C>G (p.Ala1161Gly)
c.3131C>G (p.Ala1044Gly)
c.3431C>G (p.Ala1144Gly)
 gnomAD v4
2g.120989144C>TCA54383986GLI2c.3179C>T (p.Ala1060Val)
c.3230C>T (p.Ala1077Val)
c.*2278C>T (n.*2278C>T)
c.*2329C>T (n.*2329C>T)
c.3212C>T (p.Ala1071Val)
c.3089C>T (p.Ala1030Val)
c.3035C>T (p.Ala1012Val)
c.2855C>T (p.Ala952Val)
c.2804C>T (p.Ala935Val)
c.3482C>T (p.Ala1161Val)
c.3131C>T (p.Ala1044Val)
c.3431C>T (p.Ala1144Val)
 dbSNP gnomAD v3 gnomAD v4
2g.120989145T>ACA428749779GLI2c.3180T>A (p.Ala1060=)
c.3231T>A (p.Ala1077=)
c.*2279T>A (n.*2279T>A)
c.*2330T>A (n.*2330T>A)
c.3213T>A (p.Ala1071=)
c.3090T>A (p.Ala1030=)
c.3036T>A (p.Ala1012=)
c.2856T>A (p.Ala952=)
c.2805T>A (p.Ala935=)
c.3483T>A (p.Ala1161=)
c.3132T>A (p.Ala1044=)
c.3432T>A (p.Ala1144=)
2g.120989145T>CCA428749780GLI2c.3180T>C (p.Ala1060=)
c.3231T>C (p.Ala1077=)
c.*2279T>C (n.*2279T>C)
c.*2330T>C (n.*2330T>C)
c.3213T>C (p.Ala1071=)
c.3090T>C (p.Ala1030=)
c.3036T>C (p.Ala1012=)
c.2856T>C (p.Ala952=)
c.2805T>C (p.Ala935=)
c.3483T>C (p.Ala1161=)
c.3132T>C (p.Ala1044=)
c.3432T>C (p.Ala1144=)
2g.120989145T>GCA428749781GLI2c.3180T>G (p.Ala1060=)
c.3231T>G (p.Ala1077=)
c.*2279T>G (n.*2279T>G)
c.*2330T>G (n.*2330T>G)
c.3213T>G (p.Ala1071=)
c.3090T>G (p.Ala1030=)
c.3036T>G (p.Ala1012=)
c.2856T>G (p.Ala952=)
c.2805T>G (p.Ala935=)
c.3483T>G (p.Ala1161=)
c.3132T>G (p.Ala1044=)
c.3432T>G (p.Ala1144=)
2g.120989146C>ACA348172864GLI2c.3181C>A (p.Leu1061Met)
c.3232C>A (p.Leu1078Met)
c.*2280C>A (n.*2280C>A)
c.*2331C>A (n.*2331C>A)
c.3214C>A (p.Leu1072Met)
c.3091C>A (p.Leu1031Met)
c.3037C>A (p.Leu1013Met)
c.2857C>A (p.Leu953Met)
c.2806C>A (p.Leu936Met)
c.3484C>A (p.Leu1162Met)
c.3133C>A (p.Leu1045Met)
c.3433C>A (p.Leu1145Met)
2g.120989146C>GCA348172866GLI2c.3181C>G (p.Leu1061Val)
c.3232C>G (p.Leu1078Val)
c.*2280C>G (n.*2280C>G)
c.*2331C>G (n.*2331C>G)
c.3214C>G (p.Leu1072Val)
c.3091C>G (p.Leu1031Val)
c.3037C>G (p.Leu1013Val)
c.2857C>G (p.Leu953Val)
c.2806C>G (p.Leu936Val)
c.3484C>G (p.Leu1162Val)
c.3133C>G (p.Leu1045Val)
c.3433C>G (p.Leu1145Val)
 gnomAD v4
2g.120989146C>TCA428749782GLI2c.3181C>T (p.Leu1061=)
c.3232C>T (p.Leu1078=)
c.*2280C>T (n.*2280C>T)
c.*2331C>T (n.*2331C>T)
c.3214C>T (p.Leu1072=)
c.3091C>T (p.Leu1031=)
c.3037C>T (p.Leu1013=)
c.2857C>T (p.Leu953=)
c.2806C>T (p.Leu936=)
c.3484C>T (p.Leu1162=)
c.3133C>T (p.Leu1045=)
c.3433C>T (p.Leu1145=)
2g.120989147T>ACA348172871GLI2c.3182T>A (p.Leu1061Gln)
c.3233T>A (p.Leu1078Gln)
c.*2281T>A (n.*2281T>A)
c.*2332T>A (n.*2332T>A)
c.3215T>A (p.Leu1072Gln)
c.3092T>A (p.Leu1031Gln)
c.3038T>A (p.Leu1013Gln)
c.2858T>A (p.Leu953Gln)
c.2807T>A (p.Leu936Gln)
c.3485T>A (p.Leu1162Gln)
c.3134T>A (p.Leu1045Gln)
c.3434T>A (p.Leu1145Gln)
2g.120989147T>CCA348172874GLI2c.3182T>C (p.Leu1061Pro)
c.3233T>C (p.Leu1078Pro)
c.*2281T>C (n.*2281T>C)
c.*2332T>C (n.*2332T>C)
c.3215T>C (p.Leu1072Pro)
c.3092T>C (p.Leu1031Pro)
c.3038T>C (p.Leu1013Pro)
c.2858T>C (p.Leu953Pro)
c.2807T>C (p.Leu936Pro)
c.3485T>C (p.Leu1162Pro)
c.3134T>C (p.Leu1045Pro)
c.3434T>C (p.Leu1145Pro)
 dbSNP gnomAD v4
2g.120989147T>GCA348172872GLI2c.3182T>G (p.Leu1061Arg)
c.3233T>G (p.Leu1078Arg)
c.*2281T>G (n.*2281T>G)
c.*2332T>G (n.*2332T>G)
c.3215T>G (p.Leu1072Arg)
c.3092T>G (p.Leu1031Arg)
c.3038T>G (p.Leu1013Arg)
c.2858T>G (p.Leu953Arg)
c.2807T>G (p.Leu936Arg)
c.3485T>G (p.Leu1162Arg)
c.3134T>G (p.Leu1045Arg)
c.3434T>G (p.Leu1145Arg)
2g.120989147T=CA1283795493GLI2c.3182T= (p.Leu1061=)
c.3233T= (p.Leu1078=)
c.*2281T= (n.*2281T=)
c.*2332T= (n.*2332T=)
c.3215T= (p.Leu1072=)
c.3092T= (p.Leu1031=)
c.3038T= (p.Leu1013=)
c.2858T= (p.Leu953=)
c.2807T= (p.Leu936=)
c.3485T= (p.Leu1162=)
c.3134T= (p.Leu1045=)
c.3434T= (p.Leu1145=)
2g.120989147_120989153delinsTGGACGACA1283795492GLI2c.3182_3188delinsTGGACGA (p.Leu1061=)
c.3233_3239delinsTGGACGA (p.Leu1078=)
c.*2281_*2287delinsTGGACGA (n.*2281_*2287delinsTGGACGA)
c.*2332_*2338delinsTGGACGA (n.*2332_*2338delinsTGGACGA)
c.3215_3221delinsTGGACGA (p.Leu1072=)
c.3092_3098delinsTGGACGA (p.Leu1031=)
c.3038_3044delinsTGGACGA (p.Leu1013=)
c.2858_2864delinsTGGACGA (p.Leu953=)
c.2807_2813delinsTGGACGA (p.Leu936=)
c.3485_3491delinsTGGACGA (p.Leu1162=)
c.3134_3140delinsTGGACGA (p.Leu1045=)
c.3434_3440delinsTGGACGA (p.Leu1145=)
2g.120989148G>ACA428749783GLI2c.3183G>A (p.Leu1061=)
c.3234G>A (p.Leu1078=)
c.*2282G>A (n.*2282G>A)
c.*2333G>A (n.*2333G>A)
c.3216G>A (p.Leu1072=)
c.3093G>A (p.Leu1031=)
c.3039G>A (p.Leu1013=)
c.2859G>A (p.Leu953=)
c.2808G>A (p.Leu936=)
c.3486G>A (p.Leu1162=)
c.3135G>A (p.Leu1045=)
c.3435G>A (p.Leu1145=)
2g.120989148G>CCA428749784GLI2c.3183G>C (p.Leu1061=)
c.3234G>C (p.Leu1078=)
c.*2282G>C (n.*2282G>C)
c.*2333G>C (n.*2333G>C)
c.3216G>C (p.Leu1072=)
c.3093G>C (p.Leu1031=)
c.3039G>C (p.Leu1013=)
c.2859G>C (p.Leu953=)
c.2808G>C (p.Leu936=)
c.3486G>C (p.Leu1162=)
c.3135G>C (p.Leu1045=)
c.3435G>C (p.Leu1145=)
2g.120989148G>TCA428749785GLI2c.3183G>T (p.Leu1061=)
c.3234G>T (p.Leu1078=)
c.*2282G>T (n.*2282G>T)
c.*2333G>T (n.*2333G>T)
c.3216G>T (p.Leu1072=)
c.3093G>T (p.Leu1031=)
c.3039G>T (p.Leu1013=)
c.2859G>T (p.Leu953=)
c.2808G>T (p.Leu936=)
c.3486G>T (p.Leu1162=)
c.3135G>T (p.Leu1045=)
c.3435G>T (p.Leu1145=)
2g.120989150_120989155delCA916636148GLI2c.3185_3190del (p.Asp1062_Glu1063del)
c.3236_3241del (p.Asp1079_Glu1080del)
c.*2284_*2289del (n.*2284_*2289del)
c.*2335_*2340del (n.*2335_*2340del)
c.3218_3223del (p.Asp1073_Glu1074del)
c.3095_3100del (p.Asp1032_Glu1033del)
c.3041_3046del (p.Asp1014_Glu1015del)
c.2861_2866del (p.Asp954_Glu955del)
c.2810_2815del (p.Asp937_Glu938del)
c.3488_3493del (p.Asp1163_Glu1164del)
c.3137_3142del (p.Asp1046_Glu1047del)
c.3437_3442del (p.Asp1146_Glu1147del)
 dbSNP gnomAD v3 gnomAD v4
2g.120989149G>ACA348172876GLI2c.3184G>A (p.Asp1062Asn)
c.3235G>A (p.Asp1079Asn)
c.*2283G>A (n.*2283G>A)
c.*2334G>A (n.*2334G>A)
c.3217G>A (p.Asp1073Asn)
c.3094G>A (p.Asp1032Asn)
c.3040G>A (p.Asp1014Asn)
c.2860G>A (p.Asp954Asn)
c.2809G>A (p.Asp937Asn)
c.3487G>A (p.Asp1163Asn)
c.3136G>A (p.Asp1046Asn)
c.3436G>A (p.Asp1146Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.120989149G>CCA348172877GLI2c.3184G>C (p.Asp1062His)
c.3235G>C (p.Asp1079His)
c.*2283G>C (n.*2283G>C)
c.*2334G>C (n.*2334G>C)
c.3217G>C (p.Asp1073His)
c.3094G>C (p.Asp1032His)
c.3040G>C (p.Asp1014His)
c.2860G>C (p.Asp954His)
c.2809G>C (p.Asp937His)
c.3487G>C (p.Asp1163His)
c.3136G>C (p.Asp1046His)
c.3436G>C (p.Asp1146His)
2g.120989149G=CA1283795494GLI2c.3184G= (p.Asp1062=)
c.3235G= (p.Asp1079=)
c.*2283G= (n.*2283G=)
c.*2334G= (n.*2334G=)
c.3217G= (p.Asp1073=)
c.3094G= (p.Asp1032=)
c.3040G= (p.Asp1014=)
c.2860G= (p.Asp954=)
c.2809G= (p.Asp937=)
c.3487G= (p.Asp1163=)
c.3136G= (p.Asp1046=)
c.3436G= (p.Asp1146=)
2g.120989149G>TCA348172880GLI2c.3184G>T (p.Asp1062Tyr)
c.3235G>T (p.Asp1079Tyr)
c.*2283G>T (n.*2283G>T)
c.*2334G>T (n.*2334G>T)
c.3217G>T (p.Asp1073Tyr)
c.3094G>T (p.Asp1032Tyr)
c.3040G>T (p.Asp1014Tyr)
c.2860G>T (p.Asp954Tyr)
c.2809G>T (p.Asp937Tyr)
c.3487G>T (p.Asp1163Tyr)
c.3136G>T (p.Asp1046Tyr)
c.3436G>T (p.Asp1146Tyr)
2g.120989150A=CA1283795495GLI2c.3185A= (p.Asp1062=)
c.3236A= (p.Asp1079=)
c.*2284A= (n.*2284A=)
c.*2335A= (n.*2335A=)
c.3218A= (p.Asp1073=)
c.3095A= (p.Asp1032=)
c.3041A= (p.Asp1014=)
c.2861A= (p.Asp954=)
c.2810A= (p.Asp937=)
c.3488A= (p.Asp1163=)
c.3137A= (p.Asp1046=)
c.3437A= (p.Asp1146=)
2g.120989150A>CCA348172885GLI2c.3185A>C (p.Asp1062Ala)
c.3236A>C (p.Asp1079Ala)
c.*2284A>C (n.*2284A>C)
c.*2335A>C (n.*2335A>C)
c.3218A>C (p.Asp1073Ala)
c.3095A>C (p.Asp1032Ala)
c.3041A>C (p.Asp1014Ala)
c.2861A>C (p.Asp954Ala)
c.2810A>C (p.Asp937Ala)
c.3488A>C (p.Asp1163Ala)
c.3137A>C (p.Asp1046Ala)
c.3437A>C (p.Asp1146Ala)
2g.120989150A>GCA348172886GLI2c.3185A>G (p.Asp1062Gly)
c.3236A>G (p.Asp1079Gly)
c.*2284A>G (n.*2284A>G)
c.*2335A>G (n.*2335A>G)
c.3218A>G (p.Asp1073Gly)
c.3095A>G (p.Asp1032Gly)
c.3041A>G (p.Asp1014Gly)
c.2861A>G (p.Asp954Gly)
c.2810A>G (p.Asp937Gly)
c.3488A>G (p.Asp1163Gly)
c.3137A>G (p.Asp1046Gly)
c.3437A>G (p.Asp1146Gly)
 dbSNP
2g.120989150A>TCA348172889GLI2c.3185A>T (p.Asp1062Val)
c.3236A>T (p.Asp1079Val)
c.*2284A>T (n.*2284A>T)
c.*2335A>T (n.*2335A>T)
c.3218A>T (p.Asp1073Val)
c.3095A>T (p.Asp1032Val)
c.3041A>T (p.Asp1014Val)
c.2861A>T (p.Asp954Val)
c.2810A>T (p.Asp937Val)
c.3488A>T (p.Asp1163Val)
c.3137A>T (p.Asp1046Val)
c.3437A>T (p.Asp1146Val)
2g.120989151C>ACA348172892GLI2c.3186C>A (p.Asp1062Glu)
c.3237C>A (p.Asp1079Glu)
c.*2285C>A (n.*2285C>A)
c.*2336C>A (n.*2336C>A)
c.3219C>A (p.Asp1073Glu)
c.3096C>A (p.Asp1032Glu)
c.3042C>A (p.Asp1014Glu)
c.2862C>A (p.Asp954Glu)
c.2811C>A (p.Asp937Glu)
c.3489C>A (p.Asp1163Glu)
c.3138C>A (p.Asp1046Glu)
c.3438C>A (p.Asp1146Glu)
2g.120989151C=CA1283795496GLI2c.3186C= (p.Asp1062=)
c.3237C= (p.Asp1079=)
c.*2285C= (n.*2285C=)
c.*2336C= (n.*2336C=)
c.3219C= (p.Asp1073=)
c.3096C= (p.Asp1032=)
c.3042C= (p.Asp1014=)
c.2862C= (p.Asp954=)
c.2811C= (p.Asp937=)
c.3489C= (p.Asp1163=)
c.3138C= (p.Asp1046=)
c.3438C= (p.Asp1146=)
2g.120989151C>GCA348172893GLI2c.3186C>G (p.Asp1062Glu)
c.3237C>G (p.Asp1079Glu)
c.*2285C>G (n.*2285C>G)
c.*2336C>G (n.*2336C>G)
c.3219C>G (p.Asp1073Glu)
c.3096C>G (p.Asp1032Glu)
c.3042C>G (p.Asp1014Glu)
c.2862C>G (p.Asp954Glu)
c.2811C>G (p.Asp937Glu)
c.3489C>G (p.Asp1163Glu)
c.3138C>G (p.Asp1046Glu)
c.3438C>G (p.Asp1146Glu)
2g.120989151C>TCA1852341GLI2c.3186C>T (p.Asp1062=)
c.3237C>T (p.Asp1079=)
c.*2285C>T (n.*2285C>T)
c.*2336C>T (n.*2336C>T)
c.3219C>T (p.Asp1073=)
c.3096C>T (p.Asp1032=)
c.3042C>T (p.Asp1014=)
c.2862C>T (p.Asp954=)
c.2811C>T (p.Asp937=)
c.3489C>T (p.Asp1163=)
c.3138C>T (p.Asp1046=)
c.3438C>T (p.Asp1146=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989152G>ACA348172896GLI2c.3187G>A (p.Glu1063Lys)
c.3238G>A (p.Glu1080Lys)
c.*2286G>A (n.*2286G>A)
c.*2337G>A (n.*2337G>A)
c.3220G>A (p.Glu1074Lys)
c.3097G>A (p.Glu1033Lys)
c.3043G>A (p.Glu1015Lys)
c.2863G>A (p.Glu955Lys)
c.2812G>A (p.Glu938Lys)
c.3490G>A (p.Glu1164Lys)
c.3139G>A (p.Glu1047Lys)
c.3439G>A (p.Glu1147Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.120989152G>CCA348172897GLI2c.3187G>C (p.Glu1063Gln)
c.3238G>C (p.Glu1080Gln)
c.*2286G>C (n.*2286G>C)
c.*2337G>C (n.*2337G>C)
c.3220G>C (p.Glu1074Gln)
c.3097G>C (p.Glu1033Gln)
c.3043G>C (p.Glu1015Gln)
c.2863G>C (p.Glu955Gln)
c.2812G>C (p.Glu938Gln)
c.3490G>C (p.Glu1164Gln)
c.3139G>C (p.Glu1047Gln)
c.3439G>C (p.Glu1147Gln)
2g.120989152G=CA1283795497GLI2c.3187G= (p.Glu1063=)
c.3238G= (p.Glu1080=)
c.*2286G= (n.*2286G=)
c.*2337G= (n.*2337G=)
c.3220G= (p.Glu1074=)
c.3097G= (p.Glu1033=)
c.3043G= (p.Glu1015=)
c.2863G= (p.Glu955=)
c.2812G= (p.Glu938=)
c.3490G= (p.Glu1164=)
c.3139G= (p.Glu1047=)
c.3439G= (p.Glu1147=)
2g.120989152G>TCA348172899GLI2c.3187G>T (p.Glu1063Ter)
c.3238G>T (p.Glu1080Ter)
c.*2286G>T (n.*2286G>T)
c.*2337G>T (n.*2337G>T)
c.3220G>T (p.Glu1074Ter)
c.3097G>T (p.Glu1033Ter)
c.3043G>T (p.Glu1015Ter)
c.2863G>T (p.Glu955Ter)
c.2812G>T (p.Glu938Ter)
c.3490G>T (p.Glu1164Ter)
c.3139G>T (p.Glu1047Ter)
c.3439G>T (p.Glu1147Ter)
 COSMIC
2g.120989153A>CCA348172905GLI2c.3188A>C (p.Glu1063Ala)
c.3239A>C (p.Glu1080Ala)
c.*2287A>C (n.*2287A>C)
c.*2338A>C (n.*2338A>C)
c.3221A>C (p.Glu1074Ala)
c.3098A>C (p.Glu1033Ala)
c.3044A>C (p.Glu1015Ala)
c.2864A>C (p.Glu955Ala)
c.2813A>C (p.Glu938Ala)
c.3491A>C (p.Glu1164Ala)
c.3140A>C (p.Glu1047Ala)
c.3440A>C (p.Glu1147Ala)
2g.120989153A>GCA348172907GLI2c.3188A>G (p.Glu1063Gly)
c.3239A>G (p.Glu1080Gly)
c.*2287A>G (n.*2287A>G)
c.*2338A>G (n.*2338A>G)
c.3221A>G (p.Glu1074Gly)
c.3098A>G (p.Glu1033Gly)
c.3044A>G (p.Glu1015Gly)
c.2864A>G (p.Glu955Gly)
c.2813A>G (p.Glu938Gly)
c.3491A>G (p.Glu1164Gly)
c.3140A>G (p.Glu1047Gly)
c.3440A>G (p.Glu1147Gly)
2g.120989153A>TCA348172902GLI2c.3188A>T (p.Glu1063Val)
c.3239A>T (p.Glu1080Val)
c.*2287A>T (n.*2287A>T)
c.*2338A>T (n.*2338A>T)
c.3221A>T (p.Glu1074Val)
c.3098A>T (p.Glu1033Val)
c.3044A>T (p.Glu1015Val)
c.2864A>T (p.Glu955Val)
c.2813A>T (p.Glu938Val)
c.3491A>T (p.Glu1164Val)
c.3140A>T (p.Glu1047Val)
c.3440A>T (p.Glu1147Val)
2g.120989154G>ACA428749786GLI2c.3189G>A (p.Glu1063=)
c.3240G>A (p.Glu1080=)
c.*2288G>A (n.*2288G>A)
c.*2339G>A (n.*2339G>A)
c.3222G>A (p.Glu1074=)
c.3099G>A (p.Glu1033=)
c.3045G>A (p.Glu1015=)
c.2865G>A (p.Glu955=)
c.2814G>A (p.Glu938=)
c.3492G>A (p.Glu1164=)
c.3141G>A (p.Glu1047=)
c.3441G>A (p.Glu1147=)
2g.120989154G>CCA348172911GLI2c.3189G>C (p.Glu1063Asp)
c.3240G>C (p.Glu1080Asp)
c.*2288G>C (n.*2288G>C)
c.*2339G>C (n.*2339G>C)
c.3222G>C (p.Glu1074Asp)
c.3099G>C (p.Glu1033Asp)
c.3045G>C (p.Glu1015Asp)
c.2865G>C (p.Glu955Asp)
c.2814G>C (p.Glu938Asp)
c.3492G>C (p.Glu1164Asp)
c.3141G>C (p.Glu1047Asp)
c.3441G>C (p.Glu1147Asp)
2g.120989154G>TCA348172914GLI2c.3189G>T (p.Glu1063Asp)
c.3240G>T (p.Glu1080Asp)
c.*2288G>T (n.*2288G>T)
c.*2339G>T (n.*2339G>T)
c.3222G>T (p.Glu1074Asp)
c.3099G>T (p.Glu1033Asp)
c.3045G>T (p.Glu1015Asp)
c.2865G>T (p.Glu955Asp)
c.2814G>T (p.Glu938Asp)
c.3492G>T (p.Glu1164Asp)
c.3141G>T (p.Glu1047Asp)
c.3441G>T (p.Glu1147Asp)
2g.120989155G>ACA348172918GLI2c.3190G>A (p.Gly1064Ser)
c.3241G>A (p.Gly1081Ser)
c.*2289G>A (n.*2289G>A)
c.*2340G>A (n.*2340G>A)
c.3223G>A (p.Gly1075Ser)
c.3100G>A (p.Gly1034Ser)
c.3046G>A (p.Gly1016Ser)
c.2866G>A (p.Gly956Ser)
c.2815G>A (p.Gly939Ser)
c.3493G>A (p.Gly1165Ser)
c.3142G>A (p.Gly1048Ser)
c.3442G>A (p.Gly1148Ser)
2g.120989155G>CCA348172920GLI2c.3190G>C (p.Gly1064Arg)
c.3241G>C (p.Gly1081Arg)
c.*2289G>C (n.*2289G>C)
c.*2340G>C (n.*2340G>C)
c.3223G>C (p.Gly1075Arg)
c.3100G>C (p.Gly1034Arg)
c.3046G>C (p.Gly1016Arg)
c.2866G>C (p.Gly956Arg)
c.2815G>C (p.Gly939Arg)
c.3493G>C (p.Gly1165Arg)
c.3142G>C (p.Gly1048Arg)
c.3442G>C (p.Gly1148Arg)
2g.120989155G>TCA348172923GLI2c.3190G>T (p.Gly1064Cys)
c.3241G>T (p.Gly1081Cys)
c.*2289G>T (n.*2289G>T)
c.*2340G>T (n.*2340G>T)
c.3223G>T (p.Gly1075Cys)
c.3100G>T (p.Gly1034Cys)
c.3046G>T (p.Gly1016Cys)
c.2866G>T (p.Gly956Cys)
c.2815G>T (p.Gly939Cys)
c.3493G>T (p.Gly1165Cys)
c.3142G>T (p.Gly1048Cys)
c.3442G>T (p.Gly1148Cys)
 ClinVar gnomAD v4
2g.120989156G>ACA348172927GLI2c.3191G>A (p.Gly1064Asp)
c.3242G>A (p.Gly1081Asp)
c.*2290G>A (n.*2290G>A)
c.*2341G>A (n.*2341G>A)
c.3224G>A (p.Gly1075Asp)
c.3101G>A (p.Gly1034Asp)
c.3047G>A (p.Gly1016Asp)
c.2867G>A (p.Gly956Asp)
c.2816G>A (p.Gly939Asp)
c.3494G>A (p.Gly1165Asp)
c.3143G>A (p.Gly1048Asp)
c.3443G>A (p.Gly1148Asp)
2g.120989156G>CCA348172929GLI2c.3191G>C (p.Gly1064Ala)
c.3242G>C (p.Gly1081Ala)
c.*2290G>C (n.*2290G>C)
c.*2341G>C (n.*2341G>C)
c.3224G>C (p.Gly1075Ala)
c.3101G>C (p.Gly1034Ala)
c.3047G>C (p.Gly1016Ala)
c.2867G>C (p.Gly956Ala)
c.2816G>C (p.Gly939Ala)
c.3494G>C (p.Gly1165Ala)
c.3143G>C (p.Gly1048Ala)
c.3443G>C (p.Gly1148Ala)
2g.120989156G=CA1283795498GLI2c.3191G= (p.Gly1064=)
c.3242G= (p.Gly1081=)
c.*2290G= (n.*2290G=)
c.*2341G= (n.*2341G=)
c.3224G= (p.Gly1075=)
c.3101G= (p.Gly1034=)
c.3047G= (p.Gly1016=)
c.2867G= (p.Gly956=)
c.2816G= (p.Gly939=)
c.3494G= (p.Gly1165=)
c.3143G= (p.Gly1048=)
c.3443G= (p.Gly1148=)
2g.120989156G>TCA1852342GLI2c.3191G>T (p.Gly1064Val)
c.3242G>T (p.Gly1081Val)
c.*2290G>T (n.*2290G>T)
c.*2341G>T (n.*2341G>T)
c.3224G>T (p.Gly1075Val)
c.3101G>T (p.Gly1034Val)
c.3047G>T (p.Gly1016Val)
c.2867G>T (p.Gly956Val)
c.2816G>T (p.Gly939Val)
c.3494G>T (p.Gly1165Val)
c.3143G>T (p.Gly1048Val)
c.3443G>T (p.Gly1148Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989157C>ACA428749787GLI2c.3192C>A (p.Gly1064=)
c.3243C>A (p.Gly1081=)
c.*2291C>A (n.*2291C>A)
c.*2342C>A (n.*2342C>A)
c.3225C>A (p.Gly1075=)
c.3102C>A (p.Gly1034=)
c.3048C>A (p.Gly1016=)
c.2868C>A (p.Gly956=)
c.2817C>A (p.Gly939=)
c.3495C>A (p.Gly1165=)
c.3144C>A (p.Gly1048=)
c.3444C>A (p.Gly1148=)
2g.120989157C>GCA428749789GLI2c.3192C>G (p.Gly1064=)
c.3243C>G (p.Gly1081=)
c.*2291C>G (n.*2291C>G)
c.*2342C>G (n.*2342C>G)
c.3225C>G (p.Gly1075=)
c.3102C>G (p.Gly1034=)
c.3048C>G (p.Gly1016=)
c.2868C>G (p.Gly956=)
c.2817C>G (p.Gly939=)
c.3495C>G (p.Gly1165=)
c.3144C>G (p.Gly1048=)
c.3444C>G (p.Gly1148=)
2g.120989157C>TCA428749788GLI2c.3192C>T (p.Gly1064=)
c.3243C>T (p.Gly1081=)
c.*2291C>T (n.*2291C>T)
c.*2342C>T (n.*2342C>T)
c.3225C>T (p.Gly1075=)
c.3102C>T (p.Gly1034=)
c.3048C>T (p.Gly1016=)
c.2868C>T (p.Gly956=)
c.2817C>T (p.Gly939=)
c.3495C>T (p.Gly1165=)
c.3144C>T (p.Gly1048=)
c.3444C>T (p.Gly1148=)
2g.120989158A=CA1283795499GLI2c.3193A= (p.Thr1065=)
c.3244A= (p.Thr1082=)
c.*2292A= (n.*2292A=)
c.*2343A= (n.*2343A=)
c.3226A= (p.Thr1076=)
c.3103A= (p.Thr1035=)
c.3049A= (p.Thr1017=)
c.2869A= (p.Thr957=)
c.2818A= (p.Thr940=)
c.3496A= (p.Thr1166=)
c.3145A= (p.Thr1049=)
c.3445A= (p.Thr1149=)
2g.120989158A>CCA348172931GLI2c.3193A>C (p.Thr1065Pro)
c.3244A>C (p.Thr1082Pro)
c.*2292A>C (n.*2292A>C)
c.*2343A>C (n.*2343A>C)
c.3226A>C (p.Thr1076Pro)
c.3103A>C (p.Thr1035Pro)
c.3049A>C (p.Thr1017Pro)
c.2869A>C (p.Thr957Pro)
c.2818A>C (p.Thr940Pro)
c.3496A>C (p.Thr1166Pro)
c.3145A>C (p.Thr1049Pro)
c.3445A>C (p.Thr1149Pro)
2g.120989158A>GCA54384004GLI2c.3193A>G (p.Thr1065Ala)
c.3244A>G (p.Thr1082Ala)
c.*2292A>G (n.*2292A>G)
c.*2343A>G (n.*2343A>G)
c.3226A>G (p.Thr1076Ala)
c.3103A>G (p.Thr1035Ala)
c.3049A>G (p.Thr1017Ala)
c.2869A>G (p.Thr957Ala)
c.2818A>G (p.Thr940Ala)
c.3496A>G (p.Thr1166Ala)
c.3145A>G (p.Thr1049Ala)
c.3445A>G (p.Thr1149Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989158A>TCA348172935GLI2c.3193A>T (p.Thr1065Ser)
c.3244A>T (p.Thr1082Ser)
c.*2292A>T (n.*2292A>T)
c.*2343A>T (n.*2343A>T)
c.3226A>T (p.Thr1076Ser)
c.3103A>T (p.Thr1035Ser)
c.3049A>T (p.Thr1017Ser)
c.2869A>T (p.Thr957Ser)
c.2818A>T (p.Thr940Ser)
c.3496A>T (p.Thr1166Ser)
c.3145A>T (p.Thr1049Ser)
c.3445A>T (p.Thr1149Ser)
2g.120989159C>ACA348172939GLI2c.3194C>A (p.Thr1065Asn)
c.3245C>A (p.Thr1082Asn)
c.*2293C>A (n.*2293C>A)
c.*2344C>A (n.*2344C>A)
c.3227C>A (p.Thr1076Asn)
c.3104C>A (p.Thr1035Asn)
c.3050C>A (p.Thr1017Asn)
c.2870C>A (p.Thr957Asn)
c.2819C>A (p.Thr940Asn)
c.3497C>A (p.Thr1166Asn)
c.3146C>A (p.Thr1049Asn)
c.3446C>A (p.Thr1149Asn)
2g.120989159C=CA1283795500GLI2c.3194C= (p.Thr1065=)
c.3245C= (p.Thr1082=)
c.*2293C= (n.*2293C=)
c.*2344C= (n.*2344C=)
c.3227C= (p.Thr1076=)
c.3104C= (p.Thr1035=)
c.3050C= (p.Thr1017=)
c.2870C= (p.Thr957=)
c.2819C= (p.Thr940=)
c.3497C= (p.Thr1166=)
c.3146C= (p.Thr1049=)
c.3446C= (p.Thr1149=)
2g.120989159C>GCA348172941GLI2c.3194C>G (p.Thr1065Ser)
c.3245C>G (p.Thr1082Ser)
c.*2293C>G (n.*2293C>G)
c.*2344C>G (n.*2344C>G)
c.3227C>G (p.Thr1076Ser)
c.3104C>G (p.Thr1035Ser)
c.3050C>G (p.Thr1017Ser)
c.2870C>G (p.Thr957Ser)
c.2819C>G (p.Thr940Ser)
c.3497C>G (p.Thr1166Ser)
c.3146C>G (p.Thr1049Ser)
c.3446C>G (p.Thr1149Ser)
 gnomAD v4 COSMIC
2g.120989159C>TCA348172946GLI2c.3194C>T (p.Thr1065Ile)
c.3245C>T (p.Thr1082Ile)
c.*2293C>T (n.*2293C>T)
c.*2344C>T (n.*2344C>T)
c.3227C>T (p.Thr1076Ile)
c.3104C>T (p.Thr1035Ile)
c.3050C>T (p.Thr1017Ile)
c.2870C>T (p.Thr957Ile)
c.2819C>T (p.Thr940Ile)
c.3497C>T (p.Thr1166Ile)
c.3146C>T (p.Thr1049Ile)
c.3446C>T (p.Thr1149Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989160C>ACA428749790GLI2c.3195C>A (p.Thr1065=)
c.3246C>A (p.Thr1082=)
c.*2294C>A (n.*2294C>A)
c.*2345C>A (n.*2345C>A)
c.3228C>A (p.Thr1076=)
c.3105C>A (p.Thr1035=)
c.3051C>A (p.Thr1017=)
c.2871C>A (p.Thr957=)
c.2820C>A (p.Thr940=)
c.3498C>A (p.Thr1166=)
c.3147C>A (p.Thr1049=)
c.3447C>A (p.Thr1149=)
2g.120989160C=CA1283795501GLI2c.3195C= (p.Thr1065=)
c.3246C= (p.Thr1082=)
c.*2294C= (n.*2294C=)
c.*2345C= (n.*2345C=)
c.3228C= (p.Thr1076=)
c.3105C= (p.Thr1035=)
c.3051C= (p.Thr1017=)
c.2871C= (p.Thr957=)
c.2820C= (p.Thr940=)
c.3498C= (p.Thr1166=)
c.3147C= (p.Thr1049=)
c.3447C= (p.Thr1149=)
2g.120989160C>GCA428749791GLI2c.3195C>G (p.Thr1065=)
c.3246C>G (p.Thr1082=)
c.*2294C>G (n.*2294C>G)
c.*2345C>G (n.*2345C>G)
c.3228C>G (p.Thr1076=)
c.3105C>G (p.Thr1035=)
c.3051C>G (p.Thr1017=)
c.2871C>G (p.Thr957=)
c.2820C>G (p.Thr940=)
c.3498C>G (p.Thr1166=)
c.3147C>G (p.Thr1049=)
c.3447C>G (p.Thr1149=)
2g.120989160C>TCA1852343GLI2c.3195C>T (p.Thr1065=)
c.3246C>T (p.Thr1082=)
c.*2294C>T (n.*2294C>T)
c.*2345C>T (n.*2345C>T)
c.3228C>T (p.Thr1076=)
c.3105C>T (p.Thr1035=)
c.3051C>T (p.Thr1017=)
c.2871C>T (p.Thr957=)
c.2820C>T (p.Thr940=)
c.3498C>T (p.Thr1166=)
c.3147C>T (p.Thr1049=)
c.3447C>T (p.Thr1149=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989161G>ACA348172961GLI2c.3196G>A (p.Gly1066Arg)
c.3247G>A (p.Gly1083Arg)
c.*2295G>A (n.*2295G>A)
c.*2346G>A (n.*2346G>A)
c.3229G>A (p.Gly1077Arg)
c.3106G>A (p.Gly1036Arg)
c.3052G>A (p.Gly1018Arg)
c.2872G>A (p.Gly958Arg)
c.2821G>A (p.Gly941Arg)
c.3499G>A (p.Gly1167Arg)
c.3148G>A (p.Gly1050Arg)
c.3448G>A (p.Gly1150Arg)
 ClinVar gnomAD v4
2g.120989161G>CCA348172952GLI2c.3196G>C (p.Gly1066Arg)
c.3247G>C (p.Gly1083Arg)
c.*2295G>C (n.*2295G>C)
c.*2346G>C (n.*2346G>C)
c.3229G>C (p.Gly1077Arg)
c.3106G>C (p.Gly1036Arg)
c.3052G>C (p.Gly1018Arg)
c.2872G>C (p.Gly958Arg)
c.2821G>C (p.Gly941Arg)
c.3499G>C (p.Gly1167Arg)
c.3148G>C (p.Gly1050Arg)
c.3448G>C (p.Gly1150Arg)
2g.120989161G>TCA348172958GLI2c.3196G>T (p.Gly1066Trp)
c.3247G>T (p.Gly1083Trp)
c.*2295G>T (n.*2295G>T)
c.*2346G>T (n.*2346G>T)
c.3229G>T (p.Gly1077Trp)
c.3106G>T (p.Gly1036Trp)
c.3052G>T (p.Gly1018Trp)
c.2872G>T (p.Gly958Trp)
c.2821G>T (p.Gly941Trp)
c.3499G>T (p.Gly1167Trp)
c.3148G>T (p.Gly1050Trp)
c.3448G>T (p.Gly1150Trp)
2g.120989162G>ACA1852344GLI2c.3197G>A (p.Gly1066Glu)
c.3248G>A (p.Gly1083Glu)
c.*2296G>A (n.*2296G>A)
c.*2347G>A (n.*2347G>A)
c.3230G>A (p.Gly1077Glu)
c.3107G>A (p.Gly1036Glu)
c.3053G>A (p.Gly1018Glu)
c.2873G>A (p.Gly958Glu)
c.2822G>A (p.Gly941Glu)
c.3500G>A (p.Gly1167Glu)
c.3149G>A (p.Gly1050Glu)
c.3449G>A (p.Gly1150Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989162G>CCA348172976GLI2c.3197G>C (p.Gly1066Ala)
c.3248G>C (p.Gly1083Ala)
c.*2296G>C (n.*2296G>C)
c.*2347G>C (n.*2347G>C)
c.3230G>C (p.Gly1077Ala)
c.3107G>C (p.Gly1036Ala)
c.3053G>C (p.Gly1018Ala)
c.2873G>C (p.Gly958Ala)
c.2822G>C (p.Gly941Ala)
c.3500G>C (p.Gly1167Ala)
c.3149G>C (p.Gly1050Ala)
c.3449G>C (p.Gly1150Ala)
2g.120989162G=CA1283795502GLI2c.3197G= (p.Gly1066=)
c.3248G= (p.Gly1083=)
c.*2296G= (n.*2296G=)
c.*2347G= (n.*2347G=)
c.3230G= (p.Gly1077=)
c.3107G= (p.Gly1036=)
c.3053G= (p.Gly1018=)
c.2873G= (p.Gly958=)
c.2822G= (p.Gly941=)
c.3500G= (p.Gly1167=)
c.3149G= (p.Gly1050=)
c.3449G= (p.Gly1150=)
2g.120989162G>TCA348172981GLI2c.3197G>T (p.Gly1066Val)
c.3248G>T (p.Gly1083Val)
c.*2296G>T (n.*2296G>T)
c.*2347G>T (n.*2347G>T)
c.3230G>T (p.Gly1077Val)
c.3107G>T (p.Gly1036Val)
c.3053G>T (p.Gly1018Val)
c.2873G>T (p.Gly958Val)
c.2822G>T (p.Gly941Val)
c.3500G>T (p.Gly1167Val)
c.3149G>T (p.Gly1050Val)
c.3449G>T (p.Gly1150Val)
2g.120989163G>ACA428749792GLI2c.3198G>A (p.Gly1066=)
c.3249G>A (p.Gly1083=)
c.*2297G>A (n.*2297G>A)
c.*2348G>A (n.*2348G>A)
c.3231G>A (p.Gly1077=)
c.3108G>A (p.Gly1036=)
c.3054G>A (p.Gly1018=)
c.2874G>A (p.Gly958=)
c.2823G>A (p.Gly941=)
c.3501G>A (p.Gly1167=)
c.3150G>A (p.Gly1050=)
c.3450G>A (p.Gly1150=)
2g.120989163G>CCA428749793GLI2c.3198G>C (p.Gly1066=)
c.3249G>C (p.Gly1083=)
c.*2297G>C (n.*2297G>C)
c.*2348G>C (n.*2348G>C)
c.3231G>C (p.Gly1077=)
c.3108G>C (p.Gly1036=)
c.3054G>C (p.Gly1018=)
c.2874G>C (p.Gly958=)
c.2823G>C (p.Gly941=)
c.3501G>C (p.Gly1167=)
c.3150G>C (p.Gly1050=)
c.3450G>C (p.Gly1150=)
2g.120989163G>TCA428749794GLI2c.3198G>T (p.Gly1066=)
c.3249G>T (p.Gly1083=)
c.*2297G>T (n.*2297G>T)
c.*2348G>T (n.*2348G>T)
c.3231G>T (p.Gly1077=)
c.3108G>T (p.Gly1036=)
c.3054G>T (p.Gly1018=)
c.2874G>T (p.Gly958=)
c.2823G>T (p.Gly941=)
c.3501G>T (p.Gly1167=)
c.3150G>T (p.Gly1050=)
c.3450G>T (p.Gly1150=)
2g.120989164C>ACA348172983GLI2c.3199C>A (p.Gln1067Lys)
c.3250C>A (p.Gln1084Lys)
c.*2298C>A (n.*2298C>A)
c.*2349C>A (n.*2349C>A)
c.3232C>A (p.Gln1078Lys)
c.3109C>A (p.Gln1037Lys)
c.3055C>A (p.Gln1019Lys)
c.2875C>A (p.Gln959Lys)
c.2824C>A (p.Gln942Lys)
c.3502C>A (p.Gln1168Lys)
c.3151C>A (p.Gln1051Lys)
c.3451C>A (p.Gln1151Lys)
2g.120989164C=CA1283795503GLI2c.3199C= (p.Gln1067=)
c.3250C= (p.Gln1084=)
c.*2298C= (n.*2298C=)
c.*2349C= (n.*2349C=)
c.3232C= (p.Gln1078=)
c.3109C= (p.Gln1037=)
c.3055C= (p.Gln1019=)
c.2875C= (p.Gln959=)
c.2824C= (p.Gln942=)
c.3502C= (p.Gln1168=)
c.3151C= (p.Gln1051=)
c.3451C= (p.Gln1151=)
2g.120989164C>GCA54384016GLI2c.3199C>G (p.Gln1067Glu)
c.3250C>G (p.Gln1084Glu)
c.*2298C>G (n.*2298C>G)
c.*2349C>G (n.*2349C>G)
c.3232C>G (p.Gln1078Glu)
c.3109C>G (p.Gln1037Glu)
c.3055C>G (p.Gln1019Glu)
c.2875C>G (p.Gln959Glu)
c.2824C>G (p.Gln942Glu)
c.3502C>G (p.Gln1168Glu)
c.3151C>G (p.Gln1051Glu)
c.3451C>G (p.Gln1151Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.120989164C>TCA348172987GLI2c.3199C>T (p.Gln1067Ter)
c.3250C>T (p.Gln1084Ter)
c.*2298C>T (n.*2298C>T)
c.*2349C>T (n.*2349C>T)
c.3232C>T (p.Gln1078Ter)
c.3109C>T (p.Gln1037Ter)
c.3055C>T (p.Gln1019Ter)
c.2875C>T (p.Gln959Ter)
c.2824C>T (p.Gln942Ter)
c.3502C>T (p.Gln1168Ter)
c.3151C>T (p.Gln1051Ter)
c.3451C>T (p.Gln1151Ter)
2g.120989165A>CCA348172997GLI2c.3200A>C (p.Gln1067Pro)
c.3251A>C (p.Gln1084Pro)
c.*2299A>C (n.*2299A>C)
c.*2350A>C (n.*2350A>C)
c.3233A>C (p.Gln1078Pro)
c.3110A>C (p.Gln1037Pro)
c.3056A>C (p.Gln1019Pro)
c.2876A>C (p.Gln959Pro)
c.2825A>C (p.Gln942Pro)
c.3503A>C (p.Gln1168Pro)
c.3152A>C (p.Gln1051Pro)
c.3452A>C (p.Gln1151Pro)
2g.120989165A>GCA348172999GLI2c.3200A>G (p.Gln1067Arg)
c.3251A>G (p.Gln1084Arg)
c.*2299A>G (n.*2299A>G)
c.*2350A>G (n.*2350A>G)
c.3233A>G (p.Gln1078Arg)
c.3110A>G (p.Gln1037Arg)
c.3056A>G (p.Gln1019Arg)
c.2876A>G (p.Gln959Arg)
c.2825A>G (p.Gln942Arg)
c.3503A>G (p.Gln1168Arg)
c.3152A>G (p.Gln1051Arg)
c.3452A>G (p.Gln1151Arg)
2g.120989165A>TCA348173005GLI2c.3200A>T (p.Gln1067Leu)
c.3251A>T (p.Gln1084Leu)
c.*2299A>T (n.*2299A>T)
c.*2350A>T (n.*2350A>T)
c.3233A>T (p.Gln1078Leu)
c.3110A>T (p.Gln1037Leu)
c.3056A>T (p.Gln1019Leu)
c.2876A>T (p.Gln959Leu)
c.2825A>T (p.Gln942Leu)
c.3503A>T (p.Gln1168Leu)
c.3152A>T (p.Gln1051Leu)
c.3452A>T (p.Gln1151Leu)
2g.120989166G>ACA428749796GLI2c.3201G>A (p.Gln1067=)
c.3252G>A (p.Gln1084=)
c.*2300G>A (n.*2300G>A)
c.*2351G>A (n.*2351G>A)
c.3234G>A (p.Gln1078=)
c.3111G>A (p.Gln1037=)
c.3057G>A (p.Gln1019=)
c.2877G>A (p.Gln959=)
c.2826G>A (p.Gln942=)
c.3504G>A (p.Gln1168=)
c.3153G>A (p.Gln1051=)
c.3453G>A (p.Gln1151=)
 dbSNP gnomAD v4
2g.120989166G>CCA348173007GLI2c.3201G>C (p.Gln1067His)
c.3252G>C (p.Gln1084His)
c.*2300G>C (n.*2300G>C)
c.*2351G>C (n.*2351G>C)
c.3234G>C (p.Gln1078His)
c.3111G>C (p.Gln1037His)
c.3057G>C (p.Gln1019His)
c.2877G>C (p.Gln959His)
c.2826G>C (p.Gln942His)
c.3504G>C (p.Gln1168His)
c.3153G>C (p.Gln1051His)
c.3453G>C (p.Gln1151His)
 COSMIC
2g.120989166G=CA1283795504GLI2c.3201G= (p.Gln1067=)
c.3252G= (p.Gln1084=)
c.*2300G= (n.*2300G=)
c.*2351G= (n.*2351G=)
c.3234G= (p.Gln1078=)
c.3111G= (p.Gln1037=)
c.3057G= (p.Gln1019=)
c.2877G= (p.Gln959=)
c.2826G= (p.Gln942=)
c.3504G= (p.Gln1168=)
c.3153G= (p.Gln1051=)
c.3453G= (p.Gln1151=)
2g.120989166G>TCA1852345GLI2c.3201G>T (p.Gln1067His)
c.3252G>T (p.Gln1084His)
c.*2300G>T (n.*2300G>T)
c.*2351G>T (n.*2351G>T)
c.3234G>T (p.Gln1078His)
c.3111G>T (p.Gln1037His)
c.3057G>T (p.Gln1019His)
c.2877G>T (p.Gln959His)
c.2826G>T (p.Gln942His)
c.3504G>T (p.Gln1168His)
c.3153G>T (p.Gln1051His)
c.3453G>T (p.Gln1151His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989167G>ACA348173018GLI2c.3202G>A (p.Val1068Met)
c.3253G>A (p.Val1085Met)
c.*2301G>A (n.*2301G>A)
c.*2352G>A (n.*2352G>A)
c.3235G>A (p.Val1079Met)
c.3112G>A (p.Val1038Met)
c.3058G>A (p.Val1020Met)
c.2878G>A (p.Val960Met)
c.2827G>A (p.Val943Met)
c.3505G>A (p.Val1169Met)
c.3154G>A (p.Val1052Met)
c.3454G>A (p.Val1152Met)
 gnomAD v4
2g.120989167G>CCA348173015GLI2c.3202G>C (p.Val1068Leu)
c.3253G>C (p.Val1085Leu)
c.*2301G>C (n.*2301G>C)
c.*2352G>C (n.*2352G>C)
c.3235G>C (p.Val1079Leu)
c.3112G>C (p.Val1038Leu)
c.3058G>C (p.Val1020Leu)
c.2878G>C (p.Val960Leu)
c.2827G>C (p.Val943Leu)
c.3505G>C (p.Val1169Leu)
c.3154G>C (p.Val1052Leu)
c.3454G>C (p.Val1152Leu)
 dbSNP
2g.120989167G=CA1283795505GLI2c.3202G= (p.Val1068=)
c.3253G= (p.Val1085=)
c.*2301G= (n.*2301G=)
c.*2352G= (n.*2352G=)
c.3235G= (p.Val1079=)
c.3112G= (p.Val1038=)
c.3058G= (p.Val1020=)
c.2878G= (p.Val960=)
c.2827G= (p.Val943=)
c.3505G= (p.Val1169=)
c.3154G= (p.Val1052=)
c.3454G= (p.Val1152=)
2g.120989167G>TCA348173013GLI2c.3202G>T (p.Val1068Leu)
c.3253G>T (p.Val1085Leu)
c.*2301G>T (n.*2301G>T)
c.*2352G>T (n.*2352G>T)
c.3235G>T (p.Val1079Leu)
c.3112G>T (p.Val1038Leu)
c.3058G>T (p.Val1020Leu)
c.2878G>T (p.Val960Leu)
c.2827G>T (p.Val943Leu)
c.3505G>T (p.Val1169Leu)
c.3154G>T (p.Val1052Leu)
c.3454G>T (p.Val1152Leu)
2g.120989168T>ACA348173023GLI2c.3203T>A (p.Val1068Glu)
c.3254T>A (p.Val1085Glu)
c.*2302T>A (n.*2302T>A)
c.*2353T>A (n.*2353T>A)
c.3236T>A (p.Val1079Glu)
c.3113T>A (p.Val1038Glu)
c.3059T>A (p.Val1020Glu)
c.2879T>A (p.Val960Glu)
c.2828T>A (p.Val943Glu)
c.3506T>A (p.Val1169Glu)
c.3155T>A (p.Val1052Glu)
c.3455T>A (p.Val1152Glu)
2g.120989168T>CCA348173024GLI2c.3203T>C (p.Val1068Ala)
c.3254T>C (p.Val1085Ala)
c.*2302T>C (n.*2302T>C)
c.*2353T>C (n.*2353T>C)
c.3236T>C (p.Val1079Ala)
c.3113T>C (p.Val1038Ala)
c.3059T>C (p.Val1020Ala)
c.2879T>C (p.Val960Ala)
c.2828T>C (p.Val943Ala)
c.3506T>C (p.Val1169Ala)
c.3155T>C (p.Val1052Ala)
c.3455T>C (p.Val1152Ala)
2g.120989168T>GCA348173027GLI2c.3203T>G (p.Val1068Gly)
c.3254T>G (p.Val1085Gly)
c.*2302T>G (n.*2302T>G)
c.*2353T>G (n.*2353T>G)
c.3236T>G (p.Val1079Gly)
c.3113T>G (p.Val1038Gly)
c.3059T>G (p.Val1020Gly)
c.2879T>G (p.Val960Gly)
c.2828T>G (p.Val943Gly)
c.3506T>G (p.Val1169Gly)
c.3155T>G (p.Val1052Gly)
c.3455T>G (p.Val1152Gly)
2g.120989169G>ACA54384039GLI2c.3204G>A (p.Val1068=)
c.3255G>A (p.Val1085=)
c.*2303G>A (n.*2303G>A)
c.*2354G>A (n.*2354G>A)
c.3237G>A (p.Val1079=)
c.3114G>A (p.Val1038=)
c.3060G>A (p.Val1020=)
c.2880G>A (p.Val960=)
c.2829G>A (p.Val943=)
c.3507G>A (p.Val1169=)
c.3156G>A (p.Val1052=)
c.3456G>A (p.Val1152=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989169G>CCA1852346GLI2c.3204G>C (p.Val1068=)
c.3255G>C (p.Val1085=)
c.*2303G>C (n.*2303G>C)
c.*2354G>C (n.*2354G>C)
c.3237G>C (p.Val1079=)
c.3114G>C (p.Val1038=)
c.3060G>C (p.Val1020=)
c.2880G>C (p.Val960=)
c.2829G>C (p.Val943=)
c.3507G>C (p.Val1169=)
c.3156G>C (p.Val1052=)
c.3456G>C (p.Val1152=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989169G=CA1283795506GLI2c.3204G= (p.Val1068=)
c.3255G= (p.Val1085=)
c.*2303G= (n.*2303G=)
c.*2354G= (n.*2354G=)
c.3237G= (p.Val1079=)
c.3114G= (p.Val1038=)
c.3060G= (p.Val1020=)
c.2880G= (p.Val960=)
c.2829G= (p.Val943=)
c.3507G= (p.Val1169=)
c.3156G= (p.Val1052=)
c.3456G= (p.Val1152=)
2g.120989169G>TCA428749797GLI2c.3204G>T (p.Val1068=)
c.3255G>T (p.Val1085=)
c.*2303G>T (n.*2303G>T)
c.*2354G>T (n.*2354G>T)
c.3237G>T (p.Val1079=)
c.3114G>T (p.Val1038=)
c.3060G>T (p.Val1020=)
c.2880G>T (p.Val960=)
c.2829G>T (p.Val943=)
c.3507G>T (p.Val1169=)
c.3156G>T (p.Val1052=)
c.3456G>T (p.Val1152=)
2g.120989170T>ACA348173033GLI2c.3205T>A (p.Tyr1069Asn)
c.3256T>A (p.Tyr1086Asn)
c.*2304T>A (n.*2304T>A)
c.*2355T>A (n.*2355T>A)
c.3238T>A (p.Tyr1080Asn)
c.3115T>A (p.Tyr1039Asn)
c.3061T>A (p.Tyr1021Asn)
c.2881T>A (p.Tyr961Asn)
c.2830T>A (p.Tyr944Asn)
c.3508T>A (p.Tyr1170Asn)
c.3157T>A (p.Tyr1053Asn)
c.3457T>A (p.Tyr1153Asn)
2g.120989170T>CCA348173036GLI2c.3205T>C (p.Tyr1069His)
c.3256T>C (p.Tyr1086His)
c.*2304T>C (n.*2304T>C)
c.*2355T>C (n.*2355T>C)
c.3238T>C (p.Tyr1080His)
c.3115T>C (p.Tyr1039His)
c.3061T>C (p.Tyr1021His)
c.2881T>C (p.Tyr961His)
c.2830T>C (p.Tyr944His)
c.3508T>C (p.Tyr1170His)
c.3157T>C (p.Tyr1053His)
c.3457T>C (p.Tyr1153His)
2g.120989170T>GCA348173041GLI2c.3205T>G (p.Tyr1069Asp)
c.3256T>G (p.Tyr1086Asp)
c.*2304T>G (n.*2304T>G)
c.*2355T>G (n.*2355T>G)
c.3238T>G (p.Tyr1080Asp)
c.3115T>G (p.Tyr1039Asp)
c.3061T>G (p.Tyr1021Asp)
c.2881T>G (p.Tyr961Asp)
c.2830T>G (p.Tyr944Asp)
c.3508T>G (p.Tyr1170Asp)
c.3157T>G (p.Tyr1053Asp)
c.3457T>G (p.Tyr1153Asp)
2g.120989171A>CCA348173045GLI2c.3206A>C (p.Tyr1069Ser)
c.3257A>C (p.Tyr1086Ser)
c.*2305A>C (n.*2305A>C)
c.*2356A>C (n.*2356A>C)
c.3239A>C (p.Tyr1080Ser)
c.3116A>C (p.Tyr1039Ser)
c.3062A>C (p.Tyr1021Ser)
c.2882A>C (p.Tyr961Ser)
c.2831A>C (p.Tyr944Ser)
c.3509A>C (p.Tyr1170Ser)
c.3158A>C (p.Tyr1053Ser)
c.3458A>C (p.Tyr1153Ser)
2g.120989171A>GCA348173048GLI2c.3206A>G (p.Tyr1069Cys)
c.3257A>G (p.Tyr1086Cys)
c.*2305A>G (n.*2305A>G)
c.*2356A>G (n.*2356A>G)
c.3239A>G (p.Tyr1080Cys)
c.3116A>G (p.Tyr1039Cys)
c.3062A>G (p.Tyr1021Cys)
c.2882A>G (p.Tyr961Cys)
c.2831A>G (p.Tyr944Cys)
c.3509A>G (p.Tyr1170Cys)
c.3158A>G (p.Tyr1053Cys)
c.3458A>G (p.Tyr1153Cys)
2g.120989171A>TCA348173050GLI2c.3206A>T (p.Tyr1069Phe)
c.3257A>T (p.Tyr1086Phe)
c.*2305A>T (n.*2305A>T)
c.*2356A>T (n.*2356A>T)
c.3239A>T (p.Tyr1080Phe)
c.3116A>T (p.Tyr1039Phe)
c.3062A>T (p.Tyr1021Phe)
c.2882A>T (p.Tyr961Phe)
c.2831A>T (p.Tyr944Phe)
c.3509A>T (p.Tyr1170Phe)
c.3158A>T (p.Tyr1053Phe)
c.3458A>T (p.Tyr1153Phe)
2g.120989172delCA2586969871GLI2c.3207del (p.Thr1071ArgfsTer?)
c.3258del (p.Thr1088ArgfsTer?)
c.*2306del (n.*2306del)
c.*2357del (n.*2357del)
c.3240del (p.Thr1082ArgfsTer?)
c.3117del (p.Thr1041ArgfsTer?)
c.3063del (p.Thr1023ArgfsTer?)
c.2883del (p.Thr963ArgfsTer?)
c.2832del (p.Thr946ArgfsTer?)
c.3510del (p.Thr1172ArgfsTer?)
c.3159del (p.Thr1055ArgfsTer?)
c.3459del (p.Thr1155ArgfsTer?)
2g.120989172T>ACA348173052GLI2c.3207T>A (p.Tyr1069Ter)
c.3258T>A (p.Tyr1086Ter)
c.*2306T>A (n.*2306T>A)
c.*2357T>A (n.*2357T>A)
c.3240T>A (p.Tyr1080Ter)
c.3117T>A (p.Tyr1039Ter)
c.3063T>A (p.Tyr1021Ter)
c.2883T>A (p.Tyr961Ter)
c.2832T>A (p.Tyr944Ter)
c.3510T>A (p.Tyr1170Ter)
c.3159T>A (p.Tyr1053Ter)
c.3459T>A (p.Tyr1153Ter)
2g.120989172T>CCA428749798GLI2c.3207T>C (p.Tyr1069=)
c.3258T>C (p.Tyr1086=)
c.*2306T>C (n.*2306T>C)
c.*2357T>C (n.*2357T>C)
c.3240T>C (p.Tyr1080=)
c.3117T>C (p.Tyr1039=)
c.3063T>C (p.Tyr1021=)
c.2883T>C (p.Tyr961=)
c.2832T>C (p.Tyr944=)
c.3510T>C (p.Tyr1170=)
c.3159T>C (p.Tyr1053=)
c.3459T>C (p.Tyr1153=)
 gnomAD v4
2g.120989172T>GCA348173061GLI2c.3207T>G (p.Tyr1069Ter)
c.3258T>G (p.Tyr1086Ter)
c.*2306T>G (n.*2306T>G)
c.*2357T>G (n.*2357T>G)
c.3240T>G (p.Tyr1080Ter)
c.3117T>G (p.Tyr1039Ter)
c.3063T>G (p.Tyr1021Ter)
c.2883T>G (p.Tyr961Ter)
c.2832T>G (p.Tyr944Ter)
c.3510T>G (p.Tyr1170Ter)
c.3159T>G (p.Tyr1053Ter)
c.3459T>G (p.Tyr1153Ter)
2g.120989172T=CA1283795507GLI2c.3207T= (p.Tyr1069=)
c.3258T= (p.Tyr1086=)
c.*2306T= (n.*2306T=)
c.*2357T= (n.*2357T=)
c.3240T= (p.Tyr1080=)
c.3117T= (p.Tyr1039=)
c.3063T= (p.Tyr1021=)
c.2883T= (p.Tyr961=)
c.2832T= (p.Tyr944=)
c.3510T= (p.Tyr1170=)
c.3159T= (p.Tyr1053=)
c.3459T= (p.Tyr1153=)
2g.120989173C>ACA54384045GLI2c.3208C>A (p.Pro1070Thr)
c.3259C>A (p.Pro1087Thr)
c.*2307C>A (n.*2307C>A)
c.*2358C>A (n.*2358C>A)
c.3241C>A (p.Pro1081Thr)
c.3118C>A (p.Pro1040Thr)
c.3064C>A (p.Pro1022Thr)
c.2884C>A (p.Pro962Thr)
c.2833C>A (p.Pro945Thr)
c.3511C>A (p.Pro1171Thr)
c.3160C>A (p.Pro1054Thr)
c.3460C>A (p.Pro1154Thr)
 dbSNP
2g.120989173C=CA1283795508GLI2c.3208C= (p.Pro1070=)
c.3259C= (p.Pro1087=)
c.*2307C= (n.*2307C=)
c.*2358C= (n.*2358C=)
c.3241C= (p.Pro1081=)
c.3118C= (p.Pro1040=)
c.3064C= (p.Pro1022=)
c.2884C= (p.Pro962=)
c.2833C= (p.Pro945=)
c.3511C= (p.Pro1171=)
c.3160C= (p.Pro1054=)
c.3460C= (p.Pro1154=)
2g.120989173C>GCA348173071GLI2c.3208C>G (p.Pro1070Ala)
c.3259C>G (p.Pro1087Ala)
c.*2307C>G (n.*2307C>G)
c.*2358C>G (n.*2358C>G)
c.3241C>G (p.Pro1081Ala)
c.3118C>G (p.Pro1040Ala)
c.3064C>G (p.Pro1022Ala)
c.2884C>G (p.Pro962Ala)
c.2833C>G (p.Pro945Ala)
c.3511C>G (p.Pro1171Ala)
c.3160C>G (p.Pro1054Ala)
c.3460C>G (p.Pro1154Ala)
2g.120989173C>TCA348173064GLI2c.3208C>T (p.Pro1070Ser)
c.3259C>T (p.Pro1087Ser)
c.*2307C>T (n.*2307C>T)
c.*2358C>T (n.*2358C>T)
c.3241C>T (p.Pro1081Ser)
c.3118C>T (p.Pro1040Ser)
c.3064C>T (p.Pro1022Ser)
c.2884C>T (p.Pro962Ser)
c.2833C>T (p.Pro945Ser)
c.3511C>T (p.Pro1171Ser)
c.3160C>T (p.Pro1054Ser)
c.3460C>T (p.Pro1154Ser)
 gnomAD v4
2g.120989175dupCA16043647GLI2c.3210dup (p.Thr1071HisfsTer8)
c.3261dup (p.Thr1088HisfsTer8)
c.*2309dup (n.*2309dup)
c.*2360dup (n.*2360dup)
c.3243dup (p.Thr1082HisfsTer8)
c.3120dup (p.Thr1041HisfsTer8)
c.3066dup (p.Thr1023HisfsTer8)
c.2886dup (p.Thr963HisfsTer8)
c.2835dup (p.Thr946HisfsTer8)
c.3513dup (p.Thr1172HisfsTer8)
c.3162dup (p.Thr1055HisfsTer8)
c.3462dup (p.Thr1155HisfsTer8)
 ClinVar dbSNP
2g.120989174C>ACA348173074GLI2c.3209C>A (p.Pro1070His)
c.3260C>A (p.Pro1087His)
c.*2308C>A (n.*2308C>A)
c.*2359C>A (n.*2359C>A)
c.3242C>A (p.Pro1081His)
c.3119C>A (p.Pro1040His)
c.3065C>A (p.Pro1022His)
c.2885C>A (p.Pro962His)
c.2834C>A (p.Pro945His)
c.3512C>A (p.Pro1171His)
c.3161C>A (p.Pro1054His)
c.3461C>A (p.Pro1154His)
2g.120989174C>GCA348173076GLI2c.3209C>G (p.Pro1070Arg)
c.3260C>G (p.Pro1087Arg)
c.*2308C>G (n.*2308C>G)
c.*2359C>G (n.*2359C>G)
c.3242C>G (p.Pro1081Arg)
c.3119C>G (p.Pro1040Arg)
c.3065C>G (p.Pro1022Arg)
c.2885C>G (p.Pro962Arg)
c.2834C>G (p.Pro945Arg)
c.3512C>G (p.Pro1171Arg)
c.3161C>G (p.Pro1054Arg)
c.3461C>G (p.Pro1154Arg)
2g.120989174C>TCA348173079GLI2c.3209C>T (p.Pro1070Leu)
c.3260C>T (p.Pro1087Leu)
c.*2308C>T (n.*2308C>T)
c.*2359C>T (n.*2359C>T)
c.3242C>T (p.Pro1081Leu)
c.3119C>T (p.Pro1040Leu)
c.3065C>T (p.Pro1022Leu)
c.2885C>T (p.Pro962Leu)
c.2834C>T (p.Pro945Leu)
c.3512C>T (p.Pro1171Leu)
c.3161C>T (p.Pro1054Leu)
c.3461C>T (p.Pro1154Leu)
 gnomAD v4
2g.120989175C>ACA428749799GLI2c.3210C>A (p.Pro1070=)
c.3261C>A (p.Pro1087=)
c.*2309C>A (n.*2309C>A)
c.*2360C>A (n.*2360C>A)
c.3243C>A (p.Pro1081=)
c.3120C>A (p.Pro1040=)
c.3066C>A (p.Pro1022=)
c.2886C>A (p.Pro962=)
c.2835C>A (p.Pro945=)
c.3513C>A (p.Pro1171=)
c.3162C>A (p.Pro1054=)
c.3462C>A (p.Pro1154=)
2g.120989175C>GCA428749800GLI2c.3210C>G (p.Pro1070=)
c.3261C>G (p.Pro1087=)
c.*2309C>G (n.*2309C>G)
c.*2360C>G (n.*2360C>G)
c.3243C>G (p.Pro1081=)
c.3120C>G (p.Pro1040=)
c.3066C>G (p.Pro1022=)
c.2886C>G (p.Pro962=)
c.2835C>G (p.Pro945=)
c.3513C>G (p.Pro1171=)
c.3162C>G (p.Pro1054=)
c.3462C>G (p.Pro1154=)
2g.120989175C>TCA428749801GLI2c.3210C>T (p.Pro1070=)
c.3261C>T (p.Pro1087=)
c.*2309C>T (n.*2309C>T)
c.*2360C>T (n.*2360C>T)
c.3243C>T (p.Pro1081=)
c.3120C>T (p.Pro1040=)
c.3066C>T (p.Pro1022=)
c.2886C>T (p.Pro962=)
c.2835C>T (p.Pro945=)
c.3513C>T (p.Pro1171=)
c.3162C>T (p.Pro1054=)
c.3462C>T (p.Pro1154=)
2g.120989176A>CCA348173084GLI2c.3211A>C (p.Thr1071Pro)
c.3262A>C (p.Thr1088Pro)
c.*2310A>C (n.*2310A>C)
c.*2361A>C (n.*2361A>C)
c.3244A>C (p.Thr1082Pro)
c.3121A>C (p.Thr1041Pro)
c.3067A>C (p.Thr1023Pro)
c.2887A>C (p.Thr963Pro)
c.2836A>C (p.Thr946Pro)
c.3514A>C (p.Thr1172Pro)
c.3163A>C (p.Thr1055Pro)
c.3463A>C (p.Thr1155Pro)
2g.120989176A>GCA348173086GLI2c.3211A>G (p.Thr1071Ala)
c.3262A>G (p.Thr1088Ala)
c.*2310A>G (n.*2310A>G)
c.*2361A>G (n.*2361A>G)
c.3244A>G (p.Thr1082Ala)
c.3121A>G (p.Thr1041Ala)
c.3067A>G (p.Thr1023Ala)
c.2887A>G (p.Thr963Ala)
c.2836A>G (p.Thr946Ala)
c.3514A>G (p.Thr1172Ala)
c.3163A>G (p.Thr1055Ala)
c.3463A>G (p.Thr1155Ala)
2g.120989176A>TCA348173089GLI2c.3211A>T (p.Thr1071Ser)
c.3262A>T (p.Thr1088Ser)
c.*2310A>T (n.*2310A>T)
c.*2361A>T (n.*2361A>T)
c.3244A>T (p.Thr1082Ser)
c.3121A>T (p.Thr1041Ser)
c.3067A>T (p.Thr1023Ser)
c.2887A>T (p.Thr963Ser)
c.2836A>T (p.Thr946Ser)
c.3514A>T (p.Thr1172Ser)
c.3163A>T (p.Thr1055Ser)
c.3463A>T (p.Thr1155Ser)
2g.120989177C>ACA348173094GLI2c.3212C>A (p.Thr1071Lys)
c.3263C>A (p.Thr1088Lys)
c.*2311C>A (n.*2311C>A)
c.*2362C>A (n.*2362C>A)
c.3245C>A (p.Thr1082Lys)
c.3122C>A (p.Thr1041Lys)
c.3068C>A (p.Thr1023Lys)
c.2888C>A (p.Thr963Lys)
c.2837C>A (p.Thr946Lys)
c.3515C>A (p.Thr1172Lys)
c.3164C>A (p.Thr1055Lys)
c.3464C>A (p.Thr1155Lys)
2g.120989177C=CA1283795509GLI2c.3212C= (p.Thr1071=)
c.3263C= (p.Thr1088=)
c.*2311C= (n.*2311C=)
c.*2362C= (n.*2362C=)
c.3245C= (p.Thr1082=)
c.3122C= (p.Thr1041=)
c.3068C= (p.Thr1023=)
c.2888C= (p.Thr963=)
c.2837C= (p.Thr946=)
c.3515C= (p.Thr1172=)
c.3164C= (p.Thr1055=)
c.3464C= (p.Thr1155=)
2g.120989177C>GCA348173098GLI2c.3212C>G (p.Thr1071Arg)
c.3263C>G (p.Thr1088Arg)
c.*2311C>G (n.*2311C>G)
c.*2362C>G (n.*2362C>G)
c.3245C>G (p.Thr1082Arg)
c.3122C>G (p.Thr1041Arg)
c.3068C>G (p.Thr1023Arg)
c.2888C>G (p.Thr963Arg)
c.2837C>G (p.Thr946Arg)
c.3515C>G (p.Thr1172Arg)
c.3164C>G (p.Thr1055Arg)
c.3464C>G (p.Thr1155Arg)
2g.120989177C>TCA1852347GLI2c.3212C>T (p.Thr1071Met)
c.3263C>T (p.Thr1088Met)
c.*2311C>T (n.*2311C>T)
c.*2362C>T (n.*2362C>T)
c.3245C>T (p.Thr1082Met)
c.3122C>T (p.Thr1041Met)
c.3068C>T (p.Thr1023Met)
c.2888C>T (p.Thr963Met)
c.2837C>T (p.Thr946Met)
c.3515C>T (p.Thr1172Met)
c.3164C>T (p.Thr1055Met)
c.3464C>T (p.Thr1155Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989178G>ACA1852348GLI2c.3213G>A (p.Thr1071=)
c.3264G>A (p.Thr1088=)
c.*2312G>A (n.*2312G>A)
c.*2363G>A (n.*2363G>A)
c.3246G>A (p.Thr1082=)
c.3123G>A (p.Thr1041=)
c.3069G>A (p.Thr1023=)
c.2889G>A (p.Thr963=)
c.2838G>A (p.Thr946=)
c.3516G>A (p.Thr1172=)
c.3165G>A (p.Thr1055=)
c.3465G>A (p.Thr1155=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989178G>CCA428749802GLI2c.3213G>C (p.Thr1071=)
c.3264G>C (p.Thr1088=)
c.*2312G>C (n.*2312G>C)
c.*2363G>C (n.*2363G>C)
c.3246G>C (p.Thr1082=)
c.3123G>C (p.Thr1041=)
c.3069G>C (p.Thr1023=)
c.2889G>C (p.Thr963=)
c.2838G>C (p.Thr946=)
c.3516G>C (p.Thr1172=)
c.3165G>C (p.Thr1055=)
c.3465G>C (p.Thr1155=)
 dbSNP gnomAD v2 gnomAD v4
2g.120989178G=CA1283795510GLI2c.3213G= (p.Thr1071=)
c.3264G= (p.Thr1088=)
c.*2312G= (n.*2312G=)
c.*2363G= (n.*2363G=)
c.3246G= (p.Thr1082=)
c.3123G= (p.Thr1041=)
c.3069G= (p.Thr1023=)
c.2889G= (p.Thr963=)
c.2838G= (p.Thr946=)
c.3516G= (p.Thr1172=)
c.3165G= (p.Thr1055=)
c.3465G= (p.Thr1155=)
2g.120989178G>TCA428749803GLI2c.3213G>T (p.Thr1071=)
c.3264G>T (p.Thr1088=)
c.*2312G>T (n.*2312G>T)
c.*2363G>T (n.*2363G>T)
c.3246G>T (p.Thr1082=)
c.3123G>T (p.Thr1041=)
c.3069G>T (p.Thr1023=)
c.2889G>T (p.Thr963=)
c.2838G>T (p.Thr946=)
c.3516G>T (p.Thr1172=)
c.3165G>T (p.Thr1055=)
c.3465G>T (p.Thr1155=)

Number of alleles fetched