| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.120989176A>C | CA348173084 | GLI2 | c.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) | |
| 2 | g.120989176A>G | CA348173086 | GLI2 | c.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) | |
| 2 | g.120989176A>T | CA348173089 | GLI2 | c.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) | |
| 2 | g.120989177C>A | CA348173094 | GLI2 | c.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) | |
| 2 | g.120989177C= | CA1283795509 | GLI2 | c.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=) | |
| 2 | g.120989177C>G | CA348173098 | GLI2 | c.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) | |
| 2 | g.120989177C>T | CA1852347 | GLI2 | c.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 |
| 2 | g.120989178G>A | CA1852348 | GLI2 | c.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 |
| 2 | g.120989178G>C | CA428749802 | GLI2 | c.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 |
| 2 | g.120989178G= | CA1283795510 | GLI2 | c.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=) | |
| 2 | g.120989178G>T | CA428749803 | GLI2 | c.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=) | |
| 2 | g.120989179G>A | CA348173105 | GLI2 | c.3214G>A (p.Glu1072Lys) c.3265G>A (p.Glu1089Lys) c.*2313G>A (n.*2313G>A) c.*2364G>A (n.*2364G>A) c.3247G>A (p.Glu1083Lys) c.3124G>A (p.Glu1042Lys) c.3070G>A (p.Glu1024Lys) c.2890G>A (p.Glu964Lys) c.2839G>A (p.Glu947Lys) c.3517G>A (p.Glu1173Lys) c.3166G>A (p.Glu1056Lys) c.3466G>A (p.Glu1156Lys) | |
| 2 | g.120989179G>C | CA348173106 | GLI2 | c.3214G>C (p.Glu1072Gln) c.3265G>C (p.Glu1089Gln) c.*2313G>C (n.*2313G>C) c.*2364G>C (n.*2364G>C) c.3247G>C (p.Glu1083Gln) c.3124G>C (p.Glu1042Gln) c.3070G>C (p.Glu1024Gln) c.2890G>C (p.Glu964Gln) c.2839G>C (p.Glu947Gln) c.3517G>C (p.Glu1173Gln) c.3166G>C (p.Glu1056Gln) c.3466G>C (p.Glu1156Gln) | gnomAD v4 |
| 2 | g.120989179G>T | CA348173109 | GLI2 | c.3214G>T (p.Glu1072Ter) c.3265G>T (p.Glu1089Ter) c.*2313G>T (n.*2313G>T) c.*2364G>T (n.*2364G>T) c.3247G>T (p.Glu1083Ter) c.3124G>T (p.Glu1042Ter) c.3070G>T (p.Glu1024Ter) c.2890G>T (p.Glu964Ter) c.2839G>T (p.Glu947Ter) c.3517G>T (p.Glu1173Ter) c.3166G>T (p.Glu1056Ter) c.3466G>T (p.Glu1156Ter) | |
| 2 | g.120989180A>C | CA348173112 | GLI2 | c.3215A>C (p.Glu1072Ala) c.3266A>C (p.Glu1089Ala) c.*2314A>C (n.*2314A>C) c.*2365A>C (n.*2365A>C) c.3248A>C (p.Glu1083Ala) c.3125A>C (p.Glu1042Ala) c.3071A>C (p.Glu1024Ala) c.2891A>C (p.Glu964Ala) c.2840A>C (p.Glu947Ala) c.3518A>C (p.Glu1173Ala) c.3167A>C (p.Glu1056Ala) c.3467A>C (p.Glu1156Ala) | |
| 2 | g.120989180A>G | CA348173117 | GLI2 | c.3215A>G (p.Glu1072Gly) c.3266A>G (p.Glu1089Gly) c.*2314A>G (n.*2314A>G) c.*2365A>G (n.*2365A>G) c.3248A>G (p.Glu1083Gly) c.3125A>G (p.Glu1042Gly) c.3071A>G (p.Glu1024Gly) c.2891A>G (p.Glu964Gly) c.2840A>G (p.Glu947Gly) c.3518A>G (p.Glu1173Gly) c.3167A>G (p.Glu1056Gly) c.3467A>G (p.Glu1156Gly) | |
| 2 | g.120989180A>T | CA348173115 | GLI2 | c.3215A>T (p.Glu1072Val) c.3266A>T (p.Glu1089Val) c.*2314A>T (n.*2314A>T) c.*2365A>T (n.*2365A>T) c.3248A>T (p.Glu1083Val) c.3125A>T (p.Glu1042Val) c.3071A>T (p.Glu1024Val) c.2891A>T (p.Glu964Val) c.2840A>T (p.Glu947Val) c.3518A>T (p.Glu1173Val) c.3167A>T (p.Glu1056Val) c.3467A>T (p.Glu1156Val) | |
| 2 | g.120989181A>C | CA348173120 | GLI2 | c.3216A>C (p.Glu1072Asp) c.3267A>C (p.Glu1089Asp) c.*2315A>C (n.*2315A>C) c.*2366A>C (n.*2366A>C) c.3249A>C (p.Glu1083Asp) c.3126A>C (p.Glu1042Asp) c.3072A>C (p.Glu1024Asp) c.2892A>C (p.Glu964Asp) c.2841A>C (p.Glu947Asp) c.3519A>C (p.Glu1173Asp) c.3168A>C (p.Glu1056Asp) c.3468A>C (p.Glu1156Asp) | |
| 2 | g.120989181A>G | CA428749804 | GLI2 | c.3216A>G (p.Glu1072=) c.3267A>G (p.Glu1089=) c.*2315A>G (n.*2315A>G) c.*2366A>G (n.*2366A>G) c.3249A>G (p.Glu1083=) c.3126A>G (p.Glu1042=) c.3072A>G (p.Glu1024=) c.2892A>G (p.Glu964=) c.2841A>G (p.Glu947=) c.3519A>G (p.Glu1173=) c.3168A>G (p.Glu1056=) c.3468A>G (p.Glu1156=) | |
| 2 | g.120989181A>T | CA348173122 | GLI2 | c.3216A>T (p.Glu1072Asp) c.3267A>T (p.Glu1089Asp) c.*2315A>T (n.*2315A>T) c.*2366A>T (n.*2366A>T) c.3249A>T (p.Glu1083Asp) c.3126A>T (p.Glu1042Asp) c.3072A>T (p.Glu1024Asp) c.2892A>T (p.Glu964Asp) c.2841A>T (p.Glu947Asp) c.3519A>T (p.Glu1173Asp) c.3168A>T (p.Glu1056Asp) c.3468A>T (p.Glu1156Asp) | |
| 2 | g.120989182A>C | CA348173126 | GLI2 | c.3217A>C (p.Ser1073Arg) c.3268A>C (p.Ser1090Arg) c.*2316A>C (n.*2316A>C) c.*2367A>C (n.*2367A>C) c.3250A>C (p.Ser1084Arg) c.3127A>C (p.Ser1043Arg) c.3073A>C (p.Ser1025Arg) c.2893A>C (p.Ser965Arg) c.2842A>C (p.Ser948Arg) c.3520A>C (p.Ser1174Arg) c.3169A>C (p.Ser1057Arg) c.3469A>C (p.Ser1157Arg) | ClinVar |
| 2 | g.120989182A>G | CA348173133 | GLI2 | c.3217A>G (p.Ser1073Gly) c.3268A>G (p.Ser1090Gly) c.*2316A>G (n.*2316A>G) c.*2367A>G (n.*2367A>G) c.3250A>G (p.Ser1084Gly) c.3127A>G (p.Ser1043Gly) c.3073A>G (p.Ser1025Gly) c.2893A>G (p.Ser965Gly) c.2842A>G (p.Ser948Gly) c.3520A>G (p.Ser1174Gly) c.3169A>G (p.Ser1057Gly) c.3469A>G (p.Ser1157Gly) | |
| 2 | g.120989182A>T | CA348173130 | GLI2 | c.3217A>T (p.Ser1073Cys) c.3268A>T (p.Ser1090Cys) c.*2316A>T (n.*2316A>T) c.*2367A>T (n.*2367A>T) c.3250A>T (p.Ser1084Cys) c.3127A>T (p.Ser1043Cys) c.3073A>T (p.Ser1025Cys) c.2893A>T (p.Ser965Cys) c.2842A>T (p.Ser948Cys) c.3520A>T (p.Ser1174Cys) c.3169A>T (p.Ser1057Cys) c.3469A>T (p.Ser1157Cys) | |
| 2 | g.120989183G>A | CA348173138 | GLI2 | c.3218G>A (p.Ser1073Asn) c.3269G>A (p.Ser1090Asn) c.*2317G>A (n.*2317G>A) c.*2368G>A (n.*2368G>A) c.3251G>A (p.Ser1084Asn) c.3128G>A (p.Ser1043Asn) c.3074G>A (p.Ser1025Asn) c.2894G>A (p.Ser965Asn) c.2843G>A (p.Ser948Asn) c.3521G>A (p.Ser1174Asn) c.3170G>A (p.Ser1057Asn) c.3470G>A (p.Ser1157Asn) | |
| 2 | g.120989183G>C | CA348173145 | GLI2 | c.3218G>C (p.Ser1073Thr) c.3269G>C (p.Ser1090Thr) c.*2317G>C (n.*2317G>C) c.*2368G>C (n.*2368G>C) c.3251G>C (p.Ser1084Thr) c.3128G>C (p.Ser1043Thr) c.3074G>C (p.Ser1025Thr) c.2894G>C (p.Ser965Thr) c.2843G>C (p.Ser948Thr) c.3521G>C (p.Ser1174Thr) c.3170G>C (p.Ser1057Thr) c.3470G>C (p.Ser1157Thr) | |
| 2 | g.120989183G>T | CA348173149 | GLI2 | c.3218G>T (p.Ser1073Ile) c.3269G>T (p.Ser1090Ile) c.*2317G>T (n.*2317G>T) c.*2368G>T (n.*2368G>T) c.3251G>T (p.Ser1084Ile) c.3128G>T (p.Ser1043Ile) c.3074G>T (p.Ser1025Ile) c.2894G>T (p.Ser965Ile) c.2843G>T (p.Ser948Ile) c.3521G>T (p.Ser1174Ile) c.3170G>T (p.Ser1057Ile) c.3470G>T (p.Ser1157Ile) | gnomAD v4 |
| 2 | g.120989184C>A | CA348173156 | GLI2 | c.3219C>A (p.Ser1073Arg) c.3270C>A (p.Ser1090Arg) c.*2318C>A (n.*2318C>A) c.*2369C>A (n.*2369C>A) c.3252C>A (p.Ser1084Arg) c.3129C>A (p.Ser1043Arg) c.3075C>A (p.Ser1025Arg) c.2895C>A (p.Ser965Arg) c.2844C>A (p.Ser948Arg) c.3522C>A (p.Ser1174Arg) c.3171C>A (p.Ser1057Arg) c.3471C>A (p.Ser1157Arg) | |
| 2 | g.120989184C= | CA1283795511 | GLI2 | c.3219C= (p.Ser1073=) c.3270C= (p.Ser1090=) c.*2318C= (n.*2318C=) c.*2369C= (n.*2369C=) c.3252C= (p.Ser1084=) c.3129C= (p.Ser1043=) c.3075C= (p.Ser1025=) c.2895C= (p.Ser965=) c.2844C= (p.Ser948=) c.3522C= (p.Ser1174=) c.3171C= (p.Ser1057=) c.3471C= (p.Ser1157=) | |
| 2 | g.120989184C>G | CA348173160 | GLI2 | c.3219C>G (p.Ser1073Arg) c.3270C>G (p.Ser1090Arg) c.*2318C>G (n.*2318C>G) c.*2369C>G (n.*2369C>G) c.3252C>G (p.Ser1084Arg) c.3129C>G (p.Ser1043Arg) c.3075C>G (p.Ser1025Arg) c.2895C>G (p.Ser965Arg) c.2844C>G (p.Ser948Arg) c.3522C>G (p.Ser1174Arg) c.3171C>G (p.Ser1057Arg) c.3471C>G (p.Ser1157Arg) | |
| 2 | g.120989184C>T | CA1852349 | GLI2 | c.3219C>T (p.Ser1073=) c.3270C>T (p.Ser1090=) c.*2318C>T (n.*2318C>T) c.*2369C>T (n.*2369C>T) c.3252C>T (p.Ser1084=) c.3129C>T (p.Ser1043=) c.3075C>T (p.Ser1025=) c.2895C>T (p.Ser965=) c.2844C>T (p.Ser948=) c.3522C>T (p.Ser1174=) c.3171C>T (p.Ser1057=) c.3471C>T (p.Ser1157=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.120989185A= | CA1283795512 | GLI2 | c.3220A= (p.Thr1074=) c.3271A= (p.Thr1091=) c.*2319A= (n.*2319A=) c.*2370A= (n.*2370A=) c.3253A= (p.Thr1085=) c.3130A= (p.Thr1044=) c.3076A= (p.Thr1026=) c.2896A= (p.Thr966=) c.2845A= (p.Thr949=) c.3523A= (p.Thr1175=) c.3172A= (p.Thr1058=) c.3472A= (p.Thr1158=) | |
| 2 | g.120989185A>C | CA348173161 | GLI2 | c.3220A>C (p.Thr1074Pro) c.3271A>C (p.Thr1091Pro) c.*2319A>C (n.*2319A>C) c.*2370A>C (n.*2370A>C) c.3253A>C (p.Thr1085Pro) c.3130A>C (p.Thr1044Pro) c.3076A>C (p.Thr1026Pro) c.2896A>C (p.Thr966Pro) c.2845A>C (p.Thr949Pro) c.3523A>C (p.Thr1175Pro) c.3172A>C (p.Thr1058Pro) c.3472A>C (p.Thr1158Pro) | |
| 2 | g.120989185A>G | CA348173162 | GLI2 | c.3220A>G (p.Thr1074Ala) c.3271A>G (p.Thr1091Ala) c.*2319A>G (n.*2319A>G) c.*2370A>G (n.*2370A>G) c.3253A>G (p.Thr1085Ala) c.3130A>G (p.Thr1044Ala) c.3076A>G (p.Thr1026Ala) c.2896A>G (p.Thr966Ala) c.2845A>G (p.Thr949Ala) c.3523A>G (p.Thr1175Ala) c.3172A>G (p.Thr1058Ala) c.3472A>G (p.Thr1158Ala) | dbSNP |
| 2 | g.120989185A>T | CA348173165 | GLI2 | c.3220A>T (p.Thr1074Ser) c.3271A>T (p.Thr1091Ser) c.*2319A>T (n.*2319A>T) c.*2370A>T (n.*2370A>T) c.3253A>T (p.Thr1085Ser) c.3130A>T (p.Thr1044Ser) c.3076A>T (p.Thr1026Ser) c.2896A>T (p.Thr966Ser) c.2845A>T (p.Thr949Ser) c.3523A>T (p.Thr1175Ser) c.3172A>T (p.Thr1058Ser) c.3472A>T (p.Thr1158Ser) | |
| 2 | g.120989186C>A | CA348173167 | GLI2 | c.3221C>A (p.Thr1074Asn) c.3272C>A (p.Thr1091Asn) c.*2320C>A (n.*2320C>A) c.*2371C>A (n.*2371C>A) c.3254C>A (p.Thr1085Asn) c.3131C>A (p.Thr1044Asn) c.3077C>A (p.Thr1026Asn) c.2897C>A (p.Thr966Asn) c.2846C>A (p.Thr949Asn) c.3524C>A (p.Thr1175Asn) c.3173C>A (p.Thr1058Asn) c.3473C>A (p.Thr1158Asn) | |
| 2 | g.120989186C= | CA1283795513 | GLI2 | c.3221C= (p.Thr1074=) c.3272C= (p.Thr1091=) c.*2320C= (n.*2320C=) c.*2371C= (n.*2371C=) c.3254C= (p.Thr1085=) c.3131C= (p.Thr1044=) c.3077C= (p.Thr1026=) c.2897C= (p.Thr966=) c.2846C= (p.Thr949=) c.3524C= (p.Thr1175=) c.3173C= (p.Thr1058=) c.3473C= (p.Thr1158=) | |
| 2 | g.120989186C>G | CA348173173 | GLI2 | c.3221C>G (p.Thr1074Ser) c.3272C>G (p.Thr1091Ser) c.*2320C>G (n.*2320C>G) c.*2371C>G (n.*2371C>G) c.3254C>G (p.Thr1085Ser) c.3131C>G (p.Thr1044Ser) c.3077C>G (p.Thr1026Ser) c.2897C>G (p.Thr966Ser) c.2846C>G (p.Thr949Ser) c.3524C>G (p.Thr1175Ser) c.3173C>G (p.Thr1058Ser) c.3473C>G (p.Thr1158Ser) | |
| 2 | g.120989186C>T | CA1852350 | GLI2 | c.3221C>T (p.Thr1074Ile) c.3272C>T (p.Thr1091Ile) c.*2320C>T (n.*2320C>T) c.*2371C>T (n.*2371C>T) c.3254C>T (p.Thr1085Ile) c.3131C>T (p.Thr1044Ile) c.3077C>T (p.Thr1026Ile) c.2897C>T (p.Thr966Ile) c.2846C>T (p.Thr949Ile) c.3524C>T (p.Thr1175Ile) c.3173C>T (p.Thr1058Ile) c.3473C>T (p.Thr1158Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.120989187T>A | CA428749806 | GLI2 | c.3222T>A (p.Thr1074=) c.3273T>A (p.Thr1091=) c.*2321T>A (n.*2321T>A) c.*2372T>A (n.*2372T>A) c.3255T>A (p.Thr1085=) c.3132T>A (p.Thr1044=) c.3078T>A (p.Thr1026=) c.2898T>A (p.Thr966=) c.2847T>A (p.Thr949=) c.3525T>A (p.Thr1175=) c.3174T>A (p.Thr1058=) c.3474T>A (p.Thr1158=) | |
| 2 | g.120989187T>C | CA54384069 | GLI2 | c.3222T>C (p.Thr1074=) c.3273T>C (p.Thr1091=) c.*2321T>C (n.*2321T>C) c.*2372T>C (n.*2372T>C) c.3255T>C (p.Thr1085=) c.3132T>C (p.Thr1044=) c.3078T>C (p.Thr1026=) c.2898T>C (p.Thr966=) c.2847T>C (p.Thr949=) c.3525T>C (p.Thr1175=) c.3174T>C (p.Thr1058=) c.3474T>C (p.Thr1158=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.120989187T>G | CA428749805 | GLI2 | c.3222T>G (p.Thr1074=) c.3273T>G (p.Thr1091=) c.*2321T>G (n.*2321T>G) c.*2372T>G (n.*2372T>G) c.3255T>G (p.Thr1085=) c.3132T>G (p.Thr1044=) c.3078T>G (p.Thr1026=) c.2898T>G (p.Thr966=) c.2847T>G (p.Thr949=) c.3525T>G (p.Thr1175=) c.3174T>G (p.Thr1058=) c.3474T>G (p.Thr1158=) | |
| 2 | g.120989187T= | CA1283795514 | GLI2 | c.3222T= (p.Thr1074=) c.3273T= (p.Thr1091=) c.*2321T= (n.*2321T=) c.*2372T= (n.*2372T=) c.3255T= (p.Thr1085=) c.3132T= (p.Thr1044=) c.3078T= (p.Thr1026=) c.2898T= (p.Thr966=) c.2847T= (p.Thr949=) c.3525T= (p.Thr1175=) c.3174T= (p.Thr1058=) c.3474T= (p.Thr1158=) | |
| 2 | g.120989188G>A | CA348173176 | GLI2 | c.3223G>A (p.Gly1075Ser) c.3274G>A (p.Gly1092Ser) c.*2322G>A (n.*2322G>A) c.*2373G>A (n.*2373G>A) c.3256G>A (p.Gly1086Ser) c.3133G>A (p.Gly1045Ser) c.3079G>A (p.Gly1027Ser) c.2899G>A (p.Gly967Ser) c.2848G>A (p.Gly950Ser) c.3526G>A (p.Gly1176Ser) c.3175G>A (p.Gly1059Ser) c.3475G>A (p.Gly1159Ser) | |
| 2 | g.120989188G>C | CA348173178 | GLI2 | c.3223G>C (p.Gly1075Arg) c.3274G>C (p.Gly1092Arg) c.*2322G>C (n.*2322G>C) c.*2373G>C (n.*2373G>C) c.3256G>C (p.Gly1086Arg) c.3133G>C (p.Gly1045Arg) c.3079G>C (p.Gly1027Arg) c.2899G>C (p.Gly967Arg) c.2848G>C (p.Gly950Arg) c.3526G>C (p.Gly1176Arg) c.3175G>C (p.Gly1059Arg) c.3475G>C (p.Gly1159Arg) | |
| 2 | g.120989188G>T | CA348173180 | GLI2 | c.3223G>T (p.Gly1075Cys) c.3274G>T (p.Gly1092Cys) c.*2322G>T (n.*2322G>T) c.*2373G>T (n.*2373G>T) c.3256G>T (p.Gly1086Cys) c.3133G>T (p.Gly1045Cys) c.3079G>T (p.Gly1027Cys) c.2899G>T (p.Gly967Cys) c.2848G>T (p.Gly950Cys) c.3526G>T (p.Gly1176Cys) c.3175G>T (p.Gly1059Cys) c.3475G>T (p.Gly1159Cys) | |
| 2 | g.120989189G>A | CA1852351 | GLI2 | c.3224G>A (p.Gly1075Asp) c.3275G>A (p.Gly1092Asp) c.*2323G>A (n.*2323G>A) c.*2374G>A (n.*2374G>A) c.3257G>A (p.Gly1086Asp) c.3134G>A (p.Gly1045Asp) c.3080G>A (p.Gly1027Asp) c.2900G>A (p.Gly967Asp) c.2849G>A (p.Gly950Asp) c.3527G>A (p.Gly1176Asp) c.3176G>A (p.Gly1059Asp) c.3476G>A (p.Gly1159Asp) | dbSNP ExAC gnomAD v2 |
| 2 | g.120989189G>C | CA348173182 | GLI2 | c.3224G>C (p.Gly1075Ala) c.3275G>C (p.Gly1092Ala) c.*2323G>C (n.*2323G>C) c.*2374G>C (n.*2374G>C) c.3257G>C (p.Gly1086Ala) c.3134G>C (p.Gly1045Ala) c.3080G>C (p.Gly1027Ala) c.2900G>C (p.Gly967Ala) c.2849G>C (p.Gly950Ala) c.3527G>C (p.Gly1176Ala) c.3176G>C (p.Gly1059Ala) c.3476G>C (p.Gly1159Ala) | |
| 2 | g.120989189G= | CA1283795515 | GLI2 | c.3224G= (p.Gly1075=) c.3275G= (p.Gly1092=) c.*2323G= (n.*2323G=) c.*2374G= (n.*2374G=) c.3257G= (p.Gly1086=) c.3134G= (p.Gly1045=) c.3080G= (p.Gly1027=) c.2900G= (p.Gly967=) c.2849G= (p.Gly950=) c.3527G= (p.Gly1176=) c.3176G= (p.Gly1059=) c.3476G= (p.Gly1159=) | |
| 2 | g.120989189G>T | CA348173184 | GLI2 | c.3224G>T (p.Gly1075Val) c.3275G>T (p.Gly1092Val) c.*2323G>T (n.*2323G>T) c.*2374G>T (n.*2374G>T) c.3257G>T (p.Gly1086Val) c.3134G>T (p.Gly1045Val) c.3080G>T (p.Gly1027Val) c.2900G>T (p.Gly967Val) c.2849G>T (p.Gly950Val) c.3527G>T (p.Gly1176Val) c.3176G>T (p.Gly1059Val) c.3476G>T (p.Gly1159Val) | |
| 2 | g.120989190C>A | CA428749807 | GLI2 | c.3225C>A (p.Gly1075=) c.3276C>A (p.Gly1092=) c.*2324C>A (n.*2324C>A) c.*2375C>A (n.*2375C>A) c.3258C>A (p.Gly1086=) c.3135C>A (p.Gly1045=) c.3081C>A (p.Gly1027=) c.2901C>A (p.Gly967=) c.2850C>A (p.Gly950=) c.3528C>A (p.Gly1176=) c.3177C>A (p.Gly1059=) c.3477C>A (p.Gly1159=) | COSMIC |