| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.120989057_120989077dup | CA2660922222 | GLI2 | c.3092_3112dup (p.Gly1037_Leu1038insArgProGluAlaAspLeuGly) c.3143_3163dup (p.Gly1054_Leu1055insArgProGluAlaAspLeuGly) c.*2191_*2211dup (n.*2191_*2211dup) c.*2242_*2262dup (n.*2242_*2262dup) c.3125_3145dup (p.Gly1048_Leu1049insArgProGluAlaAspLeuGly) c.3002_3022dup (p.Gly1007_Leu1008insArgProGluAlaAspLeuGly) c.2948_2968dup (p.Gly989_Leu990insArgProGluAlaAspLeuGly) c.2768_2788dup (p.Gly929_Leu930insArgProGluAlaAspLeuGly) c.2717_2737dup (p.Gly912_Leu913insArgProGluAlaAspLeuGly) c.3395_3415dup (p.Gly1138_Leu1139insArgProGluAlaAspLeuGly) c.3044_3064dup (p.Gly1021_Leu1022insArgProGluAlaAspLeuGly) c.3344_3364dup (p.Gly1121_Leu1122insArgProGluAlaAspLeuGly) | gnomAD v4 |
| 2 | g.120989066_120989086dup | CA2660922223 | GLI2 | c.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 |
| 2 | g.120989066_120989086del | CA2660922224 | GLI2 | c.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 |
| 2 | g.120989075_120989095del | CA2660922225 | GLI2 | c.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 |
| 2 | g.120989076del | CA2660922226 | GLI2 | c.3111del (p.Leu1038CysfsTer?) c.3162del (p.Leu1055CysfsTer?) c.*2210del (n.*2210del) c.*2261del (n.*2261del) c.3144del (p.Leu1049CysfsTer?) c.3021del (p.Leu1008CysfsTer?) c.2967del (p.Leu990CysfsTer?) c.2787del (p.Leu930CysfsTer?) c.2736del (p.Leu913CysfsTer?) c.3414del (p.Leu1139CysfsTer?) c.3063del (p.Leu1022CysfsTer?) c.3363del (p.Leu1122CysfsTer?) | gnomAD v4 |
| 2 | g.120989076G>A | CA428749697 | GLI2 | c.3111G>A (p.Gly1037=) c.3162G>A (p.Gly1054=) c.*2210G>A (n.*2210G>A) c.*2261G>A (n.*2261G>A) c.3144G>A (p.Gly1048=) c.3021G>A (p.Gly1007=) c.2967G>A (p.Gly989=) c.2787G>A (p.Gly929=) c.2736G>A (p.Gly912=) c.3414G>A (p.Gly1138=) c.3063G>A (p.Gly1021=) c.3363G>A (p.Gly1121=) | |
| 2 | g.120989076G>C | CA428749698 | GLI2 | c.3111G>C (p.Gly1037=) c.3162G>C (p.Gly1054=) c.*2210G>C (n.*2210G>C) c.*2261G>C (n.*2261G>C) c.3144G>C (p.Gly1048=) c.3021G>C (p.Gly1007=) c.2967G>C (p.Gly989=) c.2787G>C (p.Gly929=) c.2736G>C (p.Gly912=) c.3414G>C (p.Gly1138=) c.3063G>C (p.Gly1021=) c.3363G>C (p.Gly1121=) | |
| 2 | g.120989076G>T | CA428749696 | GLI2 | c.3111G>T (p.Gly1037=) c.3162G>T (p.Gly1054=) c.*2210G>T (n.*2210G>T) c.*2261G>T (n.*2261G>T) c.3144G>T (p.Gly1048=) c.3021G>T (p.Gly1007=) c.2967G>T (p.Gly989=) c.2787G>T (p.Gly929=) c.2736G>T (p.Gly912=) c.3414G>T (p.Gly1138=) c.3063G>T (p.Gly1021=) c.3363G>T (p.Gly1121=) | |
| 2 | g.120989077C>A | CA348172484 | GLI2 | c.3112C>A (p.Leu1038Met) c.3163C>A (p.Leu1055Met) c.*2211C>A (n.*2211C>A) c.*2262C>A (n.*2262C>A) c.3145C>A (p.Leu1049Met) c.3022C>A (p.Leu1008Met) c.2968C>A (p.Leu990Met) c.2788C>A (p.Leu930Met) c.2737C>A (p.Leu913Met) c.3415C>A (p.Leu1139Met) c.3064C>A (p.Leu1022Met) c.3364C>A (p.Leu1122Met) | |
| 2 | g.120989077C>G | CA348172479 | GLI2 | c.3112C>G (p.Leu1038Val) c.3163C>G (p.Leu1055Val) c.*2211C>G (n.*2211C>G) c.*2262C>G (n.*2262C>G) c.3145C>G (p.Leu1049Val) c.3022C>G (p.Leu1008Val) c.2968C>G (p.Leu990Val) c.2788C>G (p.Leu930Val) c.2737C>G (p.Leu913Val) c.3415C>G (p.Leu1139Val) c.3064C>G (p.Leu1022Val) c.3364C>G (p.Leu1122Val) | |
| 2 | g.120989077C>T | CA428749699 | GLI2 | c.3112C>T (p.Leu1038=) c.3163C>T (p.Leu1055=) c.*2211C>T (n.*2211C>T) c.*2262C>T (n.*2262C>T) c.3145C>T (p.Leu1049=) c.3022C>T (p.Leu1008=) c.2968C>T (p.Leu990=) c.2788C>T (p.Leu930=) c.2737C>T (p.Leu913=) c.3415C>T (p.Leu1139=) c.3064C>T (p.Leu1022=) c.3364C>T (p.Leu1122=) | gnomAD v4 |
| 2 | g.120989078T>A | CA348172488 | GLI2 | c.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) | |
| 2 | g.120989078T>C | CA348172491 | GLI2 | c.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 |
| 2 | g.120989078T>G | CA348172493 | GLI2 | c.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) | |
| 2 | g.120989079G>A | CA428749703 | GLI2 | c.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=) | |
| 2 | g.120989079G>C | CA428749704 | GLI2 | c.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=) | |
| 2 | g.120989079G>T | CA428749705 | GLI2 | c.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 |
| 2 | g.120989080C>A | CA348172496 | GLI2 | c.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) | |
| 2 | g.120989080C= | CA1283795452 | GLI2 | c.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=) | |
| 2 | g.120989080C>G | CA348172498 | GLI2 | c.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 |
| 2 | g.120989080C>T | CA54383898 | GLI2 | c.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 |
| 2 | g.120989081del | CA428749706 | GLI2 | c.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 |
| 2 | g.120989081C>A | CA348172506 | GLI2 | c.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) | |
| 2 | g.120989081C= | CA1283795453 | GLI2 | c.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=) | |
| 2 | g.120989081C>G | CA348172502 | GLI2 | c.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 |
| 2 | g.120989081C>T | CA1852323 | GLI2 | c.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 |
| 2 | g.120989082G>A | CA1852324 | GLI2 | c.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 |
| 2 | g.120989082G>C | CA428749708 | GLI2 | c.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=) | |
| 2 | g.120989082G= | CA1283795454 | GLI2 | c.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=) | |
| 2 | g.120989082G>T | CA428749709 | GLI2 | c.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=) | |
| 2 | g.120989083G>A | CA348172509 | GLI2 | c.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 |
| 2 | g.120989083G>C | CA348172511 | GLI2 | c.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) | |
| 2 | g.120989083G= | CA1283795455 | GLI2 | c.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=) | |
| 2 | g.120989083G>T | CA348172514 | GLI2 | c.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) | |
| 2 | g.120989084A>C | CA348172516 | GLI2 | c.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) | |
| 2 | g.120989084A>G | CA348172520 | GLI2 | c.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) | |
| 2 | g.120989084A>T | CA348172521 | GLI2 | c.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 |
| 2 | g.120989085G>A | CA428749711 | GLI2 | c.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=) | |
| 2 | g.120989085G>C | CA348172523 | GLI2 | c.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 |
| 2 | g.120989085G= | CA1283795456 | GLI2 | c.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=) | |
| 2 | g.120989085G>T | CA348172524 | GLI2 | c.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 |
| 2 | g.120989086G>A | CA348172527 | GLI2 | c.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 |
| 2 | g.120989086G>C | CA348172535 | GLI2 | c.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) | |
| 2 | g.120989086G>T | CA348172537 | GLI2 | c.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 |
| 2 | g.120989090_120989110dup | CA1283795457 | GLI2 | c.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 |
| 2 | g.120989087A>C | CA348172540 | GLI2 | c.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) | |
| 2 | g.120989087A>G | CA348172544 | GLI2 | c.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) | |
| 2 | g.120989087A>T | CA348172542 | GLI2 | c.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) | |
| 2 | g.120989088C>A | CA348172547 | GLI2 | c.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) | |
| 2 | g.120989088C= | CA1283795458 | GLI2 | c.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=) |