Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.120989380G>ACA348174295GLI2c.3415G>A (p.Ala1139Thr)
c.3466G>A (p.Ala1156Thr)
c.*2514G>A (n.*2514G>A)
c.*2543+22G>A (n.*2543+22G>A)
c.*2565G>A (n.*2565G>A)
c.*2492+22G>A (n.*2492+22G>A)
c.3448G>A (p.Ala1150Thr)
c.3325G>A (p.Ala1109Thr)
c.3271G>A (p.Ala1091Thr)
c.3091G>A (p.Ala1031Thr)
c.3040G>A (p.Ala1014Thr)
c.3718G>A (p.Ala1240Thr)
c.3367G>A (p.Ala1123Thr)
c.3667G>A (p.Ala1223Thr)
 dbSNP gnomAD v4
2g.120989380G>CCA348174298GLI2c.3415G>C (p.Ala1139Pro)
c.3466G>C (p.Ala1156Pro)
c.*2514G>C (n.*2514G>C)
c.*2543+22G>C (n.*2543+22G>C)
c.*2565G>C (n.*2565G>C)
c.*2492+22G>C (n.*2492+22G>C)
c.3448G>C (p.Ala1150Pro)
c.3325G>C (p.Ala1109Pro)
c.3271G>C (p.Ala1091Pro)
c.3091G>C (p.Ala1031Pro)
c.3040G>C (p.Ala1014Pro)
c.3718G>C (p.Ala1240Pro)
c.3367G>C (p.Ala1123Pro)
c.3667G>C (p.Ala1223Pro)
 gnomAD v4
2g.120989380G=CA1283795613GLI2c.3415G= (p.Ala1139=)
c.3466G= (p.Ala1156=)
c.*2514G= (n.*2514G=)
c.*2543+22G= (n.*2543+22G=)
c.*2565G= (n.*2565G=)
c.*2492+22G= (n.*2492+22G=)
c.3448G= (p.Ala1150=)
c.3325G= (p.Ala1109=)
c.3271G= (p.Ala1091=)
c.3091G= (p.Ala1031=)
c.3040G= (p.Ala1014=)
c.3718G= (p.Ala1240=)
c.3367G= (p.Ala1123=)
c.3667G= (p.Ala1223=)
2g.120989380G>TCA148367GLI2c.3415G>T (p.Ala1139Ser)
c.3466G>T (p.Ala1156Ser)
c.*2514G>T (n.*2514G>T)
c.*2543+22G>T (n.*2543+22G>T)
c.*2565G>T (n.*2565G>T)
c.*2492+22G>T (n.*2492+22G>T)
c.3448G>T (p.Ala1150Ser)
c.3325G>T (p.Ala1109Ser)
c.3271G>T (p.Ala1091Ser)
c.3091G>T (p.Ala1031Ser)
c.3040G>T (p.Ala1014Ser)
c.3718G>T (p.Ala1240Ser)
c.3367G>T (p.Ala1123Ser)
c.3667G>T (p.Ala1223Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989381C>ACA348174301GLI2c.3416C>A (p.Ala1139Asp)
c.3467C>A (p.Ala1156Asp)
c.*2515C>A (n.*2515C>A)
c.*2543+23C>A (n.*2543+23C>A)
c.*2566C>A (n.*2566C>A)
c.*2492+23C>A (n.*2492+23C>A)
c.3449C>A (p.Ala1150Asp)
c.3326C>A (p.Ala1109Asp)
c.3272C>A (p.Ala1091Asp)
c.3092C>A (p.Ala1031Asp)
c.3041C>A (p.Ala1014Asp)
c.3719C>A (p.Ala1240Asp)
c.3368C>A (p.Ala1123Asp)
c.3668C>A (p.Ala1223Asp)
2g.120989381C=CA1283795614GLI2c.3416C= (p.Ala1139=)
c.3467C= (p.Ala1156=)
c.*2515C= (n.*2515C=)
c.*2543+23C= (n.*2543+23C=)
c.*2566C= (n.*2566C=)
c.*2492+23C= (n.*2492+23C=)
c.3449C= (p.Ala1150=)
c.3326C= (p.Ala1109=)
c.3272C= (p.Ala1091=)
c.3092C= (p.Ala1031=)
c.3041C= (p.Ala1014=)
c.3719C= (p.Ala1240=)
c.3368C= (p.Ala1123=)
c.3668C= (p.Ala1223=)
2g.120989381C>GCA348174303GLI2c.3416C>G (p.Ala1139Gly)
c.3467C>G (p.Ala1156Gly)
c.*2515C>G (n.*2515C>G)
c.*2543+23C>G (n.*2543+23C>G)
c.*2566C>G (n.*2566C>G)
c.*2492+23C>G (n.*2492+23C>G)
c.3449C>G (p.Ala1150Gly)
c.3326C>G (p.Ala1109Gly)
c.3272C>G (p.Ala1091Gly)
c.3092C>G (p.Ala1031Gly)
c.3041C>G (p.Ala1014Gly)
c.3719C>G (p.Ala1240Gly)
c.3368C>G (p.Ala1123Gly)
c.3668C>G (p.Ala1223Gly)
2g.120989381C>TCA10610696GLI2c.3416C>T (p.Ala1139Val)
c.3467C>T (p.Ala1156Val)
c.*2515C>T (n.*2515C>T)
c.*2543+23C>T (n.*2543+23C>T)
c.*2566C>T (n.*2566C>T)
c.*2492+23C>T (n.*2492+23C>T)
c.3449C>T (p.Ala1150Val)
c.3326C>T (p.Ala1109Val)
c.3272C>T (p.Ala1091Val)
c.3092C>T (p.Ala1031Val)
c.3041C>T (p.Ala1014Val)
c.3719C>T (p.Ala1240Val)
c.3368C>T (p.Ala1123Val)
c.3668C>T (p.Ala1223Val)
 ClinVar dbSNP gnomAD v4
2g.120989382C>ACA428749934GLI2c.3417C>A (p.Ala1139=)
c.3468C>A (p.Ala1156=)
c.*2516C>A (n.*2516C>A)
c.*2543+24C>A (n.*2543+24C>A)
c.*2567C>A (n.*2567C>A)
c.*2492+24C>A (n.*2492+24C>A)
c.3450C>A (p.Ala1150=)
c.3327C>A (p.Ala1109=)
c.3273C>A (p.Ala1091=)
c.3093C>A (p.Ala1031=)
c.3042C>A (p.Ala1014=)
c.3720C>A (p.Ala1240=)
c.3369C>A (p.Ala1123=)
c.3669C>A (p.Ala1223=)
2g.120989382C>GCA428749935GLI2c.3417C>G (p.Ala1139=)
c.3468C>G (p.Ala1156=)
c.*2516C>G (n.*2516C>G)
c.*2543+24C>G (n.*2543+24C>G)
c.*2567C>G (n.*2567C>G)
c.*2492+24C>G (n.*2492+24C>G)
c.3450C>G (p.Ala1150=)
c.3327C>G (p.Ala1109=)
c.3273C>G (p.Ala1091=)
c.3093C>G (p.Ala1031=)
c.3042C>G (p.Ala1014=)
c.3720C>G (p.Ala1240=)
c.3369C>G (p.Ala1123=)
c.3669C>G (p.Ala1223=)
2g.120989382C>TCA428749936GLI2c.3417C>T (p.Ala1139=)
c.3468C>T (p.Ala1156=)
c.*2516C>T (n.*2516C>T)
c.*2543+24C>T (n.*2543+24C>T)
c.*2567C>T (n.*2567C>T)
c.*2492+24C>T (n.*2492+24C>T)
c.3450C>T (p.Ala1150=)
c.3327C>T (p.Ala1109=)
c.3273C>T (p.Ala1091=)
c.3093C>T (p.Ala1031=)
c.3042C>T (p.Ala1014=)
c.3720C>T (p.Ala1240=)
c.3369C>T (p.Ala1123=)
c.3669C>T (p.Ala1223=)
2g.120989383C>ACA348174308GLI2c.3418C>A (p.Leu1140Met)
c.3469C>A (p.Leu1157Met)
c.*2517C>A (n.*2517C>A)
c.*2543+25C>A (n.*2543+25C>A)
c.*2568C>A (n.*2568C>A)
c.*2492+25C>A (n.*2492+25C>A)
c.3451C>A (p.Leu1151Met)
c.3328C>A (p.Leu1110Met)
c.3274C>A (p.Leu1092Met)
c.3094C>A (p.Leu1032Met)
c.3043C>A (p.Leu1015Met)
c.3721C>A (p.Leu1241Met)
c.3370C>A (p.Leu1124Met)
c.3670C>A (p.Leu1224Met)
2g.120989383C=CA1283795615GLI2c.3418C= (p.Leu1140=)
c.3469C= (p.Leu1157=)
c.*2517C= (n.*2517C=)
c.*2543+25C= (n.*2543+25C=)
c.*2568C= (n.*2568C=)
c.*2492+25C= (n.*2492+25C=)
c.3451C= (p.Leu1151=)
c.3328C= (p.Leu1110=)
c.3274C= (p.Leu1092=)
c.3094C= (p.Leu1032=)
c.3043C= (p.Leu1015=)
c.3721C= (p.Leu1241=)
c.3370C= (p.Leu1124=)
c.3670C= (p.Leu1224=)
2g.120989383C>GCA54384497GLI2c.3418C>G (p.Leu1140Val)
c.3469C>G (p.Leu1157Val)
c.*2517C>G (n.*2517C>G)
c.*2543+25C>G (n.*2543+25C>G)
c.*2568C>G (n.*2568C>G)
c.*2492+25C>G (n.*2492+25C>G)
c.3451C>G (p.Leu1151Val)
c.3328C>G (p.Leu1110Val)
c.3274C>G (p.Leu1092Val)
c.3094C>G (p.Leu1032Val)
c.3043C>G (p.Leu1015Val)
c.3721C>G (p.Leu1241Val)
c.3370C>G (p.Leu1124Val)
c.3670C>G (p.Leu1224Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989383C>TCA240086GLI2c.3418C>T (p.Leu1140=)
c.3469C>T (p.Leu1157=)
c.*2517C>T (n.*2517C>T)
c.*2543+25C>T (n.*2543+25C>T)
c.*2568C>T (n.*2568C>T)
c.*2492+25C>T (n.*2492+25C>T)
c.3451C>T (p.Leu1151=)
c.3328C>T (p.Leu1110=)
c.3274C>T (p.Leu1092=)
c.3094C>T (p.Leu1032=)
c.3043C>T (p.Leu1015=)
c.3721C>T (p.Leu1241=)
c.3370C>T (p.Leu1124=)
c.3670C>T (p.Leu1224=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989384T>ACA348174315GLI2c.3419T>A (p.Leu1140Gln)
c.3470T>A (p.Leu1157Gln)
c.*2518T>A (n.*2518T>A)
c.*2543+26T>A (n.*2543+26T>A)
c.*2569T>A (n.*2569T>A)
c.*2492+26T>A (n.*2492+26T>A)
c.3452T>A (p.Leu1151Gln)
c.3329T>A (p.Leu1110Gln)
c.3275T>A (p.Leu1092Gln)
c.3095T>A (p.Leu1032Gln)
c.3044T>A (p.Leu1015Gln)
c.3722T>A (p.Leu1241Gln)
c.3371T>A (p.Leu1124Gln)
c.3671T>A (p.Leu1224Gln)
2g.120989384T>CCA348174317GLI2c.3419T>C (p.Leu1140Pro)
c.3470T>C (p.Leu1157Pro)
c.*2518T>C (n.*2518T>C)
c.*2543+26T>C (n.*2543+26T>C)
c.*2569T>C (n.*2569T>C)
c.*2492+26T>C (n.*2492+26T>C)
c.3452T>C (p.Leu1151Pro)
c.3329T>C (p.Leu1110Pro)
c.3275T>C (p.Leu1092Pro)
c.3095T>C (p.Leu1032Pro)
c.3044T>C (p.Leu1015Pro)
c.3722T>C (p.Leu1241Pro)
c.3371T>C (p.Leu1124Pro)
c.3671T>C (p.Leu1224Pro)
2g.120989384T>GCA348174318GLI2c.3419T>G (p.Leu1140Arg)
c.3470T>G (p.Leu1157Arg)
c.*2518T>G (n.*2518T>G)
c.*2543+26T>G (n.*2543+26T>G)
c.*2569T>G (n.*2569T>G)
c.*2492+26T>G (n.*2492+26T>G)
c.3452T>G (p.Leu1151Arg)
c.3329T>G (p.Leu1110Arg)
c.3275T>G (p.Leu1092Arg)
c.3095T>G (p.Leu1032Arg)
c.3044T>G (p.Leu1015Arg)
c.3722T>G (p.Leu1241Arg)
c.3371T>G (p.Leu1124Arg)
c.3671T>G (p.Leu1224Arg)
2g.120989385G>ACA428749937GLI2c.3420G>A (p.Leu1140=)
c.3471G>A (p.Leu1157=)
c.*2519G>A (n.*2519G>A)
c.*2543+27G>A (n.*2543+27G>A)
c.*2570G>A (n.*2570G>A)
c.*2492+27G>A (n.*2492+27G>A)
c.3453G>A (p.Leu1151=)
c.3330G>A (p.Leu1110=)
c.3276G>A (p.Leu1092=)
c.3096G>A (p.Leu1032=)
c.3045G>A (p.Leu1015=)
c.3723G>A (p.Leu1241=)
c.3372G>A (p.Leu1124=)
c.3672G>A (p.Leu1224=)
 gnomAD v4
2g.120989385G>CCA428749938GLI2c.3420G>C (p.Leu1140=)
c.3471G>C (p.Leu1157=)
c.*2519G>C (n.*2519G>C)
c.*2543+27G>C (n.*2543+27G>C)
c.*2570G>C (n.*2570G>C)
c.*2492+27G>C (n.*2492+27G>C)
c.3453G>C (p.Leu1151=)
c.3330G>C (p.Leu1110=)
c.3276G>C (p.Leu1092=)
c.3096G>C (p.Leu1032=)
c.3045G>C (p.Leu1015=)
c.3723G>C (p.Leu1241=)
c.3372G>C (p.Leu1124=)
c.3672G>C (p.Leu1224=)
2g.120989385G>TCA428749939GLI2c.3420G>T (p.Leu1140=)
c.3471G>T (p.Leu1157=)
c.*2519G>T (n.*2519G>T)
c.*2543+27G>T (n.*2543+27G>T)
c.*2570G>T (n.*2570G>T)
c.*2492+27G>T (n.*2492+27G>T)
c.3453G>T (p.Leu1151=)
c.3330G>T (p.Leu1110=)
c.3276G>T (p.Leu1092=)
c.3096G>T (p.Leu1032=)
c.3045G>T (p.Leu1015=)
c.3723G>T (p.Leu1241=)
c.3372G>T (p.Leu1124=)
c.3672G>T (p.Leu1224=)
2g.120989386G>ACA348174320GLI2c.3421G>A (p.Ala1141Thr)
c.3472G>A (p.Ala1158Thr)
c.*2520G>A (n.*2520G>A)
c.*2543+28G>A (n.*2543+28G>A)
c.*2571G>A (n.*2571G>A)
c.*2492+28G>A (n.*2492+28G>A)
c.3454G>A (p.Ala1152Thr)
c.3331G>A (p.Ala1111Thr)
c.3277G>A (p.Ala1093Thr)
c.3097G>A (p.Ala1033Thr)
c.3046G>A (p.Ala1016Thr)
c.3724G>A (p.Ala1242Thr)
c.3373G>A (p.Ala1125Thr)
c.3673G>A (p.Ala1225Thr)
 dbSNP
2g.120989386G>CCA348174321GLI2c.3421G>C (p.Ala1141Pro)
c.3472G>C (p.Ala1158Pro)
c.*2520G>C (n.*2520G>C)
c.*2543+28G>C (n.*2543+28G>C)
c.*2571G>C (n.*2571G>C)
c.*2492+28G>C (n.*2492+28G>C)
c.3454G>C (p.Ala1152Pro)
c.3331G>C (p.Ala1111Pro)
c.3277G>C (p.Ala1093Pro)
c.3097G>C (p.Ala1033Pro)
c.3046G>C (p.Ala1016Pro)
c.3724G>C (p.Ala1242Pro)
c.3373G>C (p.Ala1125Pro)
c.3673G>C (p.Ala1225Pro)
2g.120989386G=CA1283795616GLI2c.3421G= (p.Ala1141=)
c.3472G= (p.Ala1158=)
c.*2520G= (n.*2520G=)
c.*2543+28G= (n.*2543+28G=)
c.*2571G= (n.*2571G=)
c.*2492+28G= (n.*2492+28G=)
c.3454G= (p.Ala1152=)
c.3331G= (p.Ala1111=)
c.3277G= (p.Ala1093=)
c.3097G= (p.Ala1033=)
c.3046G= (p.Ala1016=)
c.3724G= (p.Ala1242=)
c.3373G= (p.Ala1125=)
c.3673G= (p.Ala1225=)
2g.120989386G>TCA348174323GLI2c.3421G>T (p.Ala1141Ser)
c.3472G>T (p.Ala1158Ser)
c.*2520G>T (n.*2520G>T)
c.*2543+28G>T (n.*2543+28G>T)
c.*2571G>T (n.*2571G>T)
c.*2492+28G>T (n.*2492+28G>T)
c.3454G>T (p.Ala1152Ser)
c.3331G>T (p.Ala1111Ser)
c.3277G>T (p.Ala1093Ser)
c.3097G>T (p.Ala1033Ser)
c.3046G>T (p.Ala1016Ser)
c.3724G>T (p.Ala1242Ser)
c.3373G>T (p.Ala1125Ser)
c.3673G>T (p.Ala1225Ser)
2g.120989387C>ACA348174325GLI2c.3422C>A (p.Ala1141Asp)
c.3473C>A (p.Ala1158Asp)
c.*2521C>A (n.*2521C>A)
c.*2543+29C>A (n.*2543+29C>A)
c.*2572C>A (n.*2572C>A)
c.*2492+29C>A (n.*2492+29C>A)
c.3455C>A (p.Ala1152Asp)
c.3332C>A (p.Ala1111Asp)
c.3278C>A (p.Ala1093Asp)
c.3098C>A (p.Ala1033Asp)
c.3047C>A (p.Ala1016Asp)
c.3725C>A (p.Ala1242Asp)
c.3374C>A (p.Ala1125Asp)
c.3674C>A (p.Ala1225Asp)
2g.120989387C=CA1283795617GLI2c.3422C= (p.Ala1141=)
c.3473C= (p.Ala1158=)
c.*2521C= (n.*2521C=)
c.*2543+29C= (n.*2543+29C=)
c.*2572C= (n.*2572C=)
c.*2492+29C= (n.*2492+29C=)
c.3455C= (p.Ala1152=)
c.3332C= (p.Ala1111=)
c.3278C= (p.Ala1093=)
c.3098C= (p.Ala1033=)
c.3047C= (p.Ala1016=)
c.3725C= (p.Ala1242=)
c.3374C= (p.Ala1125=)
c.3674C= (p.Ala1225=)
2g.120989387C>GCA348174326GLI2c.3422C>G (p.Ala1141Gly)
c.3473C>G (p.Ala1158Gly)
c.*2521C>G (n.*2521C>G)
c.*2543+29C>G (n.*2543+29C>G)
c.*2572C>G (n.*2572C>G)
c.*2492+29C>G (n.*2492+29C>G)
c.3455C>G (p.Ala1152Gly)
c.3332C>G (p.Ala1111Gly)
c.3278C>G (p.Ala1093Gly)
c.3098C>G (p.Ala1033Gly)
c.3047C>G (p.Ala1016Gly)
c.3725C>G (p.Ala1242Gly)
c.3374C>G (p.Ala1125Gly)
c.3674C>G (p.Ala1225Gly)
2g.120989387C>TCA54384509GLI2c.3422C>T (p.Ala1141Val)
c.3473C>T (p.Ala1158Val)
c.*2521C>T (n.*2521C>T)
c.*2543+29C>T (n.*2543+29C>T)
c.*2572C>T (n.*2572C>T)
c.*2492+29C>T (n.*2492+29C>T)
c.3455C>T (p.Ala1152Val)
c.3332C>T (p.Ala1111Val)
c.3278C>T (p.Ala1093Val)
c.3098C>T (p.Ala1033Val)
c.3047C>T (p.Ala1016Val)
c.3725C>T (p.Ala1242Val)
c.3374C>T (p.Ala1125Val)
c.3674C>T (p.Ala1225Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989388C>ACA428749940GLI2c.3423C>A (p.Ala1141=)
c.3474C>A (p.Ala1158=)
c.*2522C>A (n.*2522C>A)
c.*2543+30C>A (n.*2543+30C>A)
c.*2573C>A (n.*2573C>A)
c.*2492+30C>A (n.*2492+30C>A)
c.3456C>A (p.Ala1152=)
c.3333C>A (p.Ala1111=)
c.3279C>A (p.Ala1093=)
c.3099C>A (p.Ala1033=)
c.3048C>A (p.Ala1016=)
c.3726C>A (p.Ala1242=)
c.3375C>A (p.Ala1125=)
c.3675C>A (p.Ala1225=)
 ClinVar dbSNP gnomAD v4
2g.120989388C=CA1283795618GLI2c.3423C= (p.Ala1141=)
c.3474C= (p.Ala1158=)
c.*2522C= (n.*2522C=)
c.*2543+30C= (n.*2543+30C=)
c.*2573C= (n.*2573C=)
c.*2492+30C= (n.*2492+30C=)
c.3456C= (p.Ala1152=)
c.3333C= (p.Ala1111=)
c.3279C= (p.Ala1093=)
c.3099C= (p.Ala1033=)
c.3048C= (p.Ala1016=)
c.3726C= (p.Ala1242=)
c.3375C= (p.Ala1125=)
c.3675C= (p.Ala1225=)
2g.120989388C>GCA428749941GLI2c.3423C>G (p.Ala1141=)
c.3474C>G (p.Ala1158=)
c.*2522C>G (n.*2522C>G)
c.*2543+30C>G (n.*2543+30C>G)
c.*2573C>G (n.*2573C>G)
c.*2492+30C>G (n.*2492+30C>G)
c.3456C>G (p.Ala1152=)
c.3333C>G (p.Ala1111=)
c.3279C>G (p.Ala1093=)
c.3099C>G (p.Ala1033=)
c.3048C>G (p.Ala1016=)
c.3726C>G (p.Ala1242=)
c.3375C>G (p.Ala1125=)
c.3675C>G (p.Ala1225=)
2g.120989388C>TCA428749942GLI2c.3423C>T (p.Ala1141=)
c.3474C>T (p.Ala1158=)
c.*2522C>T (n.*2522C>T)
c.*2543+30C>T (n.*2543+30C>T)
c.*2573C>T (n.*2573C>T)
c.*2492+30C>T (n.*2492+30C>T)
c.3456C>T (p.Ala1152=)
c.3333C>T (p.Ala1111=)
c.3279C>T (p.Ala1093=)
c.3099C>T (p.Ala1033=)
c.3048C>T (p.Ala1016=)
c.3726C>T (p.Ala1242=)
c.3375C>T (p.Ala1125=)
c.3675C>T (p.Ala1225=)
 dbSNP gnomAD v2 gnomAD v4
2g.120989389A>CCA348174331GLI2c.3424A>C (p.Ser1142Arg)
c.3475A>C (p.Ser1159Arg)
c.*2523A>C (n.*2523A>C)
c.*2543+31A>C (n.*2543+31A>C)
c.*2574A>C (n.*2574A>C)
c.*2492+31A>C (n.*2492+31A>C)
c.3457A>C (p.Ser1153Arg)
c.3334A>C (p.Ser1112Arg)
c.3280A>C (p.Ser1094Arg)
c.3100A>C (p.Ser1034Arg)
c.3049A>C (p.Ser1017Arg)
c.3727A>C (p.Ser1243Arg)
c.3376A>C (p.Ser1126Arg)
c.3676A>C (p.Ser1226Arg)
2g.120989389A>GCA348174333GLI2c.3424A>G (p.Ser1142Gly)
c.3475A>G (p.Ser1159Gly)
c.*2523A>G (n.*2523A>G)
c.*2543+31A>G (n.*2543+31A>G)
c.*2574A>G (n.*2574A>G)
c.*2492+31A>G (n.*2492+31A>G)
c.3457A>G (p.Ser1153Gly)
c.3334A>G (p.Ser1112Gly)
c.3280A>G (p.Ser1094Gly)
c.3100A>G (p.Ser1034Gly)
c.3049A>G (p.Ser1017Gly)
c.3727A>G (p.Ser1243Gly)
c.3376A>G (p.Ser1126Gly)
c.3676A>G (p.Ser1226Gly)
2g.120989389A>TCA348174336GLI2c.3424A>T (p.Ser1142Cys)
c.3475A>T (p.Ser1159Cys)
c.*2523A>T (n.*2523A>T)
c.*2543+31A>T (n.*2543+31A>T)
c.*2574A>T (n.*2574A>T)
c.*2492+31A>T (n.*2492+31A>T)
c.3457A>T (p.Ser1153Cys)
c.3334A>T (p.Ser1112Cys)
c.3280A>T (p.Ser1094Cys)
c.3100A>T (p.Ser1034Cys)
c.3049A>T (p.Ser1017Cys)
c.3727A>T (p.Ser1243Cys)
c.3376A>T (p.Ser1126Cys)
c.3676A>T (p.Ser1226Cys)
2g.120989390G>ACA1852398GLI2c.3425G>A (p.Ser1142Asn)
c.3476G>A (p.Ser1159Asn)
c.*2524G>A (n.*2524G>A)
c.*2543+32G>A (n.*2543+32G>A)
c.*2575G>A (n.*2575G>A)
c.*2492+32G>A (n.*2492+32G>A)
c.3458G>A (p.Ser1153Asn)
c.3335G>A (p.Ser1112Asn)
c.3281G>A (p.Ser1094Asn)
c.3101G>A (p.Ser1034Asn)
c.3050G>A (p.Ser1017Asn)
c.3728G>A (p.Ser1243Asn)
c.3377G>A (p.Ser1126Asn)
c.3677G>A (p.Ser1226Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989390G>CCA348174338GLI2c.3425G>C (p.Ser1142Thr)
c.3476G>C (p.Ser1159Thr)
c.*2524G>C (n.*2524G>C)
c.*2543+32G>C (n.*2543+32G>C)
c.*2575G>C (n.*2575G>C)
c.*2492+32G>C (n.*2492+32G>C)
c.3458G>C (p.Ser1153Thr)
c.3335G>C (p.Ser1112Thr)
c.3281G>C (p.Ser1094Thr)
c.3101G>C (p.Ser1034Thr)
c.3050G>C (p.Ser1017Thr)
c.3728G>C (p.Ser1243Thr)
c.3377G>C (p.Ser1126Thr)
c.3677G>C (p.Ser1226Thr)
2g.120989390G=CA1283795619GLI2c.3425G= (p.Ser1142=)
c.3476G= (p.Ser1159=)
c.*2524G= (n.*2524G=)
c.*2543+32G= (n.*2543+32G=)
c.*2575G= (n.*2575G=)
c.*2492+32G= (n.*2492+32G=)
c.3458G= (p.Ser1153=)
c.3335G= (p.Ser1112=)
c.3281G= (p.Ser1094=)
c.3101G= (p.Ser1034=)
c.3050G= (p.Ser1017=)
c.3728G= (p.Ser1243=)
c.3377G= (p.Ser1126=)
c.3677G= (p.Ser1226=)
2g.120989390G>TCA348174337GLI2c.3425G>T (p.Ser1142Ile)
c.3476G>T (p.Ser1159Ile)
c.*2524G>T (n.*2524G>T)
c.*2543+32G>T (n.*2543+32G>T)
c.*2575G>T (n.*2575G>T)
c.*2492+32G>T (n.*2492+32G>T)
c.3458G>T (p.Ser1153Ile)
c.3335G>T (p.Ser1112Ile)
c.3281G>T (p.Ser1094Ile)
c.3101G>T (p.Ser1034Ile)
c.3050G>T (p.Ser1017Ile)
c.3728G>T (p.Ser1243Ile)
c.3377G>T (p.Ser1126Ile)
c.3677G>T (p.Ser1226Ile)
2g.120989391C>ACA348174344GLI2c.3426C>A (p.Ser1142Arg)
c.3477C>A (p.Ser1159Arg)
c.*2525C>A (n.*2525C>A)
c.*2543+33C>A (n.*2543+33C>A)
c.*2576C>A (n.*2576C>A)
c.*2492+33C>A (n.*2492+33C>A)
c.3459C>A (p.Ser1153Arg)
c.3336C>A (p.Ser1112Arg)
c.3282C>A (p.Ser1094Arg)
c.3102C>A (p.Ser1034Arg)
c.3051C>A (p.Ser1017Arg)
c.3729C>A (p.Ser1243Arg)
c.3378C>A (p.Ser1126Arg)
c.3678C>A (p.Ser1226Arg)
2g.120989391C>GCA348174347GLI2c.3426C>G (p.Ser1142Arg)
c.3477C>G (p.Ser1159Arg)
c.*2525C>G (n.*2525C>G)
c.*2543+33C>G (n.*2543+33C>G)
c.*2576C>G (n.*2576C>G)
c.*2492+33C>G (n.*2492+33C>G)
c.3459C>G (p.Ser1153Arg)
c.3336C>G (p.Ser1112Arg)
c.3282C>G (p.Ser1094Arg)
c.3102C>G (p.Ser1034Arg)
c.3051C>G (p.Ser1017Arg)
c.3729C>G (p.Ser1243Arg)
c.3378C>G (p.Ser1126Arg)
c.3678C>G (p.Ser1226Arg)
 gnomAD v4
2g.120989391C>TCA428749943GLI2c.3426C>T (p.Ser1142=)
c.3477C>T (p.Ser1159=)
c.*2525C>T (n.*2525C>T)
c.*2543+33C>T (n.*2543+33C>T)
c.*2576C>T (n.*2576C>T)
c.*2492+33C>T (n.*2492+33C>T)
c.3459C>T (p.Ser1153=)
c.3336C>T (p.Ser1112=)
c.3282C>T (p.Ser1094=)
c.3102C>T (p.Ser1034=)
c.3051C>T (p.Ser1017=)
c.3729C>T (p.Ser1243=)
c.3378C>T (p.Ser1126=)
c.3678C>T (p.Ser1226=)
 gnomAD v4
2g.120989392C>ACA348174349GLI2c.3427C>A (p.Gln1143Lys)
c.3478C>A (p.Gln1160Lys)
c.*2526C>A (n.*2526C>A)
c.*2543+34C>A (n.*2543+34C>A)
c.*2577C>A (n.*2577C>A)
c.*2492+34C>A (n.*2492+34C>A)
c.3460C>A (p.Gln1154Lys)
c.3337C>A (p.Gln1113Lys)
c.3283C>A (p.Gln1095Lys)
c.3103C>A (p.Gln1035Lys)
c.3052C>A (p.Gln1018Lys)
c.3730C>A (p.Gln1244Lys)
c.3379C>A (p.Gln1127Lys)
c.3679C>A (p.Gln1227Lys)
2g.120989392C>GCA348174351GLI2c.3427C>G (p.Gln1143Glu)
c.3478C>G (p.Gln1160Glu)
c.*2526C>G (n.*2526C>G)
c.*2543+34C>G (n.*2543+34C>G)
c.*2577C>G (n.*2577C>G)
c.*2492+34C>G (n.*2492+34C>G)
c.3460C>G (p.Gln1154Glu)
c.3337C>G (p.Gln1113Glu)
c.3283C>G (p.Gln1095Glu)
c.3103C>G (p.Gln1035Glu)
c.3052C>G (p.Gln1018Glu)
c.3730C>G (p.Gln1244Glu)
c.3379C>G (p.Gln1127Glu)
c.3679C>G (p.Gln1227Glu)
2g.120989392C>TCA348174352GLI2c.3427C>T (p.Gln1143Ter)
c.3478C>T (p.Gln1160Ter)
c.*2526C>T (n.*2526C>T)
c.*2543+34C>T (n.*2543+34C>T)
c.*2577C>T (n.*2577C>T)
c.*2492+34C>T (n.*2492+34C>T)
c.3460C>T (p.Gln1154Ter)
c.3337C>T (p.Gln1113Ter)
c.3283C>T (p.Gln1095Ter)
c.3103C>T (p.Gln1035Ter)
c.3052C>T (p.Gln1018Ter)
c.3730C>T (p.Gln1244Ter)
c.3379C>T (p.Gln1127Ter)
c.3679C>T (p.Gln1227Ter)
2g.120989393A>CCA348174353GLI2c.3428A>C (p.Gln1143Pro)
c.3479A>C (p.Gln1160Pro)
c.*2527A>C (n.*2527A>C)
c.*2543+35A>C (n.*2543+35A>C)
c.*2578A>C (n.*2578A>C)
c.*2492+35A>C (n.*2492+35A>C)
c.3461A>C (p.Gln1154Pro)
c.3338A>C (p.Gln1113Pro)
c.3284A>C (p.Gln1095Pro)
c.3104A>C (p.Gln1035Pro)
c.3053A>C (p.Gln1018Pro)
c.3731A>C (p.Gln1244Pro)
c.3380A>C (p.Gln1127Pro)
c.3680A>C (p.Gln1227Pro)
2g.120989393A>GCA348174355GLI2c.3428A>G (p.Gln1143Arg)
c.3479A>G (p.Gln1160Arg)
c.*2527A>G (n.*2527A>G)
c.*2543+35A>G (n.*2543+35A>G)
c.*2578A>G (n.*2578A>G)
c.*2492+35A>G (n.*2492+35A>G)
c.3461A>G (p.Gln1154Arg)
c.3338A>G (p.Gln1113Arg)
c.3284A>G (p.Gln1095Arg)
c.3104A>G (p.Gln1035Arg)
c.3053A>G (p.Gln1018Arg)
c.3731A>G (p.Gln1244Arg)
c.3380A>G (p.Gln1127Arg)
c.3680A>G (p.Gln1227Arg)
2g.120989393A>TCA348174357GLI2c.3428A>T (p.Gln1143Leu)
c.3479A>T (p.Gln1160Leu)
c.*2527A>T (n.*2527A>T)
c.*2543+35A>T (n.*2543+35A>T)
c.*2578A>T (n.*2578A>T)
c.*2492+35A>T (n.*2492+35A>T)
c.3461A>T (p.Gln1154Leu)
c.3338A>T (p.Gln1113Leu)
c.3284A>T (p.Gln1095Leu)
c.3104A>T (p.Gln1035Leu)
c.3053A>T (p.Gln1018Leu)
c.3731A>T (p.Gln1244Leu)
c.3380A>T (p.Gln1127Leu)
c.3680A>T (p.Gln1227Leu)
2g.120989394G>ACA428749944GLI2c.3429G>A (p.Gln1143=)
c.3480G>A (p.Gln1160=)
c.*2528G>A (n.*2528G>A)
c.*2543+36G>A (n.*2543+36G>A)
c.*2579G>A (n.*2579G>A)
c.*2492+36G>A (n.*2492+36G>A)
c.3462G>A (p.Gln1154=)
c.3339G>A (p.Gln1113=)
c.3285G>A (p.Gln1095=)
c.3105G>A (p.Gln1035=)
c.3054G>A (p.Gln1018=)
c.3732G>A (p.Gln1244=)
c.3381G>A (p.Gln1127=)
c.3681G>A (p.Gln1227=)
2g.120989394G>CCA348174359GLI2c.3429G>C (p.Gln1143His)
c.3480G>C (p.Gln1160His)
c.*2528G>C (n.*2528G>C)
c.*2543+36G>C (n.*2543+36G>C)
c.*2579G>C (n.*2579G>C)
c.*2492+36G>C (n.*2492+36G>C)
c.3462G>C (p.Gln1154His)
c.3339G>C (p.Gln1113His)
c.3285G>C (p.Gln1095His)
c.3105G>C (p.Gln1035His)
c.3054G>C (p.Gln1018His)
c.3732G>C (p.Gln1244His)
c.3381G>C (p.Gln1127His)
c.3681G>C (p.Gln1227His)
2g.120989394G>TCA348174361GLI2c.3429G>T (p.Gln1143His)
c.3480G>T (p.Gln1160His)
c.*2528G>T (n.*2528G>T)
c.*2543+36G>T (n.*2543+36G>T)
c.*2579G>T (n.*2579G>T)
c.*2492+36G>T (n.*2492+36G>T)
c.3462G>T (p.Gln1154His)
c.3339G>T (p.Gln1113His)
c.3285G>T (p.Gln1095His)
c.3105G>T (p.Gln1035His)
c.3054G>T (p.Gln1018His)
c.3732G>T (p.Gln1244His)
c.3381G>T (p.Gln1127His)
c.3681G>T (p.Gln1227His)
2g.120989395G>ACA1852399GLI2c.3430G>A (p.Val1144Met)
c.3481G>A (p.Val1161Met)
c.*2529G>A (n.*2529G>A)
c.*2543+37G>A (n.*2543+37G>A)
c.*2580G>A (n.*2580G>A)
c.*2492+37G>A (n.*2492+37G>A)
c.3463G>A (p.Val1155Met)
c.3340G>A (p.Val1114Met)
c.3286G>A (p.Val1096Met)
c.3106G>A (p.Val1036Met)
c.3055G>A (p.Val1019Met)
c.3733G>A (p.Val1245Met)
c.3382G>A (p.Val1128Met)
c.3682G>A (p.Val1228Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989395G>CCA348174363GLI2c.3430G>C (p.Val1144Leu)
c.3481G>C (p.Val1161Leu)
c.*2529G>C (n.*2529G>C)
c.*2543+37G>C (n.*2543+37G>C)
c.*2580G>C (n.*2580G>C)
c.*2492+37G>C (n.*2492+37G>C)
c.3463G>C (p.Val1155Leu)
c.3340G>C (p.Val1114Leu)
c.3286G>C (p.Val1096Leu)
c.3106G>C (p.Val1036Leu)
c.3055G>C (p.Val1019Leu)
c.3733G>C (p.Val1245Leu)
c.3382G>C (p.Val1128Leu)
c.3682G>C (p.Val1228Leu)
2g.120989395G=CA1283795620GLI2c.3430G= (p.Val1144=)
c.3481G= (p.Val1161=)
c.*2529G= (n.*2529G=)
c.*2543+37G= (n.*2543+37G=)
c.*2580G= (n.*2580G=)
c.*2492+37G= (n.*2492+37G=)
c.3463G= (p.Val1155=)
c.3340G= (p.Val1114=)
c.3286G= (p.Val1096=)
c.3106G= (p.Val1036=)
c.3055G= (p.Val1019=)
c.3733G= (p.Val1245=)
c.3382G= (p.Val1128=)
c.3682G= (p.Val1228=)
2g.120989395G>TCA348174364GLI2c.3430G>T (p.Val1144Leu)
c.3481G>T (p.Val1161Leu)
c.*2529G>T (n.*2529G>T)
c.*2543+37G>T (n.*2543+37G>T)
c.*2580G>T (n.*2580G>T)
c.*2492+37G>T (n.*2492+37G>T)
c.3463G>T (p.Val1155Leu)
c.3340G>T (p.Val1114Leu)
c.3286G>T (p.Val1096Leu)
c.3106G>T (p.Val1036Leu)
c.3055G>T (p.Val1019Leu)
c.3733G>T (p.Val1245Leu)
c.3382G>T (p.Val1128Leu)
c.3682G>T (p.Val1228Leu)
2g.120989396T>ACA348174367GLI2c.3431T>A (p.Val1144Glu)
c.3482T>A (p.Val1161Glu)
c.*2530T>A (n.*2530T>A)
c.*2543+38T>A (n.*2543+38T>A)
c.*2581T>A (n.*2581T>A)
c.*2492+38T>A (n.*2492+38T>A)
c.3464T>A (p.Val1155Glu)
c.3341T>A (p.Val1114Glu)
c.3287T>A (p.Val1096Glu)
c.3107T>A (p.Val1036Glu)
c.3056T>A (p.Val1019Glu)
c.3734T>A (p.Val1245Glu)
c.3383T>A (p.Val1128Glu)
c.3683T>A (p.Val1228Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.120989396T>CCA348174366GLI2c.3431T>C (p.Val1144Ala)
c.3482T>C (p.Val1161Ala)
c.*2530T>C (n.*2530T>C)
c.*2543+38T>C (n.*2543+38T>C)
c.*2581T>C (n.*2581T>C)
c.*2492+38T>C (n.*2492+38T>C)
c.3464T>C (p.Val1155Ala)
c.3341T>C (p.Val1114Ala)
c.3287T>C (p.Val1096Ala)
c.3107T>C (p.Val1036Ala)
c.3056T>C (p.Val1019Ala)
c.3734T>C (p.Val1245Ala)
c.3383T>C (p.Val1128Ala)
c.3683T>C (p.Val1228Ala)
2g.120989396T>GCA348174365GLI2c.3431T>G (p.Val1144Gly)
c.3482T>G (p.Val1161Gly)
c.*2530T>G (n.*2530T>G)
c.*2543+38T>G (n.*2543+38T>G)
c.*2581T>G (n.*2581T>G)
c.*2492+38T>G (n.*2492+38T>G)
c.3464T>G (p.Val1155Gly)
c.3341T>G (p.Val1114Gly)
c.3287T>G (p.Val1096Gly)
c.3107T>G (p.Val1036Gly)
c.3056T>G (p.Val1019Gly)
c.3734T>G (p.Val1245Gly)
c.3383T>G (p.Val1128Gly)
c.3683T>G (p.Val1228Gly)
2g.120989396T=CA1283795621GLI2c.3431T= (p.Val1144=)
c.3482T= (p.Val1161=)
c.*2530T= (n.*2530T=)
c.*2543+38T= (n.*2543+38T=)
c.*2581T= (n.*2581T=)
c.*2492+38T= (n.*2492+38T=)
c.3464T= (p.Val1155=)
c.3341T= (p.Val1114=)
c.3287T= (p.Val1096=)
c.3107T= (p.Val1036=)
c.3056T= (p.Val1019=)
c.3734T= (p.Val1245=)
c.3383T= (p.Val1128=)
c.3683T= (p.Val1228=)
2g.120989397G>ACA428749945GLI2c.3432G>A (p.Val1144=)
c.3483G>A (p.Val1161=)
c.*2531G>A (n.*2531G>A)
c.*2543+39G>A (n.*2543+39G>A)
c.*2582G>A (n.*2582G>A)
c.*2492+39G>A (n.*2492+39G>A)
c.3465G>A (p.Val1155=)
c.3342G>A (p.Val1114=)
c.3288G>A (p.Val1096=)
c.3108G>A (p.Val1036=)
c.3057G>A (p.Val1019=)
c.3735G>A (p.Val1245=)
c.3384G>A (p.Val1128=)
c.3684G>A (p.Val1228=)
2g.120989397G>CCA428749946GLI2c.3432G>C (p.Val1144=)
c.3483G>C (p.Val1161=)
c.*2531G>C (n.*2531G>C)
c.*2543+39G>C (n.*2543+39G>C)
c.*2582G>C (n.*2582G>C)
c.*2492+39G>C (n.*2492+39G>C)
c.3465G>C (p.Val1155=)
c.3342G>C (p.Val1114=)
c.3288G>C (p.Val1096=)
c.3108G>C (p.Val1036=)
c.3057G>C (p.Val1019=)
c.3735G>C (p.Val1245=)
c.3384G>C (p.Val1128=)
c.3684G>C (p.Val1228=)
2g.120989397G>TCA428749947GLI2c.3432G>T (p.Val1144=)
c.3483G>T (p.Val1161=)
c.*2531G>T (n.*2531G>T)
c.*2543+39G>T (n.*2543+39G>T)
c.*2582G>T (n.*2582G>T)
c.*2492+39G>T (n.*2492+39G>T)
c.3465G>T (p.Val1155=)
c.3342G>T (p.Val1114=)
c.3288G>T (p.Val1096=)
c.3108G>T (p.Val1036=)
c.3057G>T (p.Val1019=)
c.3735G>T (p.Val1245=)
c.3384G>T (p.Val1128=)
c.3684G>T (p.Val1228=)
2g.120989398A>CCA348174369GLI2c.3433A>C (p.Lys1145Gln)
c.3484A>C (p.Lys1162Gln)
c.*2532A>C (n.*2532A>C)
c.*2543+40A>C (n.*2543+40A>C)
c.*2583A>C (n.*2583A>C)
c.*2492+40A>C (n.*2492+40A>C)
c.3466A>C (p.Lys1156Gln)
c.3343A>C (p.Lys1115Gln)
c.3289A>C (p.Lys1097Gln)
c.3109A>C (p.Lys1037Gln)
c.3058A>C (p.Lys1020Gln)
c.3736A>C (p.Lys1246Gln)
c.3385A>C (p.Lys1129Gln)
c.3685A>C (p.Lys1229Gln)
2g.120989398A>GCA348174368GLI2c.3433A>G (p.Lys1145Glu)
c.3484A>G (p.Lys1162Glu)
c.*2532A>G (n.*2532A>G)
c.*2543+40A>G (n.*2543+40A>G)
c.*2583A>G (n.*2583A>G)
c.*2492+40A>G (n.*2492+40A>G)
c.3466A>G (p.Lys1156Glu)
c.3343A>G (p.Lys1115Glu)
c.3289A>G (p.Lys1097Glu)
c.3109A>G (p.Lys1037Glu)
c.3058A>G (p.Lys1020Glu)
c.3736A>G (p.Lys1246Glu)
c.3385A>G (p.Lys1129Glu)
c.3685A>G (p.Lys1229Glu)
2g.120989398A>TCA348174373GLI2c.3433A>T (p.Lys1145Ter)
c.3484A>T (p.Lys1162Ter)
c.*2532A>T (n.*2532A>T)
c.*2543+40A>T (n.*2543+40A>T)
c.*2583A>T (n.*2583A>T)
c.*2492+40A>T (n.*2492+40A>T)
c.3466A>T (p.Lys1156Ter)
c.3343A>T (p.Lys1115Ter)
c.3289A>T (p.Lys1097Ter)
c.3109A>T (p.Lys1037Ter)
c.3058A>T (p.Lys1020Ter)
c.3736A>T (p.Lys1246Ter)
c.3385A>T (p.Lys1129Ter)
c.3685A>T (p.Lys1229Ter)
2g.120989399A=CA1283795622GLI2c.3434A= (p.Lys1145=)
c.3485A= (p.Lys1162=)
c.*2533A= (n.*2533A=)
c.*2543+41A= (n.*2543+41A=)
c.*2584A= (n.*2584A=)
c.*2492+41A= (n.*2492+41A=)
c.3467A= (p.Lys1156=)
c.3344A= (p.Lys1115=)
c.3290A= (p.Lys1097=)
c.3110A= (p.Lys1037=)
c.3059A= (p.Lys1020=)
c.3737A= (p.Lys1246=)
c.3386A= (p.Lys1129=)
c.3686A= (p.Lys1229=)
2g.120989399A>CCA348174375GLI2c.3434A>C (p.Lys1145Thr)
c.3485A>C (p.Lys1162Thr)
c.*2533A>C (n.*2533A>C)
c.*2543+41A>C (n.*2543+41A>C)
c.*2584A>C (n.*2584A>C)
c.*2492+41A>C (n.*2492+41A>C)
c.3467A>C (p.Lys1156Thr)
c.3344A>C (p.Lys1115Thr)
c.3290A>C (p.Lys1097Thr)
c.3110A>C (p.Lys1037Thr)
c.3059A>C (p.Lys1020Thr)
c.3737A>C (p.Lys1246Thr)
c.3386A>C (p.Lys1129Thr)
c.3686A>C (p.Lys1229Thr)
2g.120989399A>GCA1852400GLI2c.3434A>G (p.Lys1145Arg)
c.3485A>G (p.Lys1162Arg)
c.*2533A>G (n.*2533A>G)
c.*2543+41A>G (n.*2543+41A>G)
c.*2584A>G (n.*2584A>G)
c.*2492+41A>G (n.*2492+41A>G)
c.3467A>G (p.Lys1156Arg)
c.3344A>G (p.Lys1115Arg)
c.3290A>G (p.Lys1097Arg)
c.3110A>G (p.Lys1037Arg)
c.3059A>G (p.Lys1020Arg)
c.3737A>G (p.Lys1246Arg)
c.3386A>G (p.Lys1129Arg)
c.3686A>G (p.Lys1229Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989399A>TCA348174381GLI2c.3434A>T (p.Lys1145Met)
c.3485A>T (p.Lys1162Met)
c.*2533A>T (n.*2533A>T)
c.*2543+41A>T (n.*2543+41A>T)
c.*2584A>T (n.*2584A>T)
c.*2492+41A>T (n.*2492+41A>T)
c.3467A>T (p.Lys1156Met)
c.3344A>T (p.Lys1115Met)
c.3290A>T (p.Lys1097Met)
c.3110A>T (p.Lys1037Met)
c.3059A>T (p.Lys1020Met)
c.3737A>T (p.Lys1246Met)
c.3386A>T (p.Lys1129Met)
c.3686A>T (p.Lys1229Met)
2g.120989400G>ACA428749948GLI2c.3435G>A (p.Lys1145=)
c.3486G>A (p.Lys1162=)
c.*2534G>A (n.*2534G>A)
c.*2543+42G>A (n.*2543+42G>A)
c.*2585G>A (n.*2585G>A)
c.*2492+42G>A (n.*2492+42G>A)
c.3468G>A (p.Lys1156=)
c.3345G>A (p.Lys1115=)
c.3291G>A (p.Lys1097=)
c.3111G>A (p.Lys1037=)
c.3060G>A (p.Lys1020=)
c.3738G>A (p.Lys1246=)
c.3387G>A (p.Lys1129=)
c.3687G>A (p.Lys1229=)
 dbSNP gnomAD v4
2g.120989400G>CCA348174385GLI2c.3435G>C (p.Lys1145Asn)
c.3486G>C (p.Lys1162Asn)
c.*2534G>C (n.*2534G>C)
c.*2543+42G>C (n.*2543+42G>C)
c.*2585G>C (n.*2585G>C)
c.*2492+42G>C (n.*2492+42G>C)
c.3468G>C (p.Lys1156Asn)
c.3345G>C (p.Lys1115Asn)
c.3291G>C (p.Lys1097Asn)
c.3111G>C (p.Lys1037Asn)
c.3060G>C (p.Lys1020Asn)
c.3738G>C (p.Lys1246Asn)
c.3387G>C (p.Lys1129Asn)
c.3687G>C (p.Lys1229Asn)
2g.120989400G=CA1283795623GLI2c.3435G= (p.Lys1145=)
c.3486G= (p.Lys1162=)
c.*2534G= (n.*2534G=)
c.*2543+42G= (n.*2543+42G=)
c.*2585G= (n.*2585G=)
c.*2492+42G= (n.*2492+42G=)
c.3468G= (p.Lys1156=)
c.3345G= (p.Lys1115=)
c.3291G= (p.Lys1097=)
c.3111G= (p.Lys1037=)
c.3060G= (p.Lys1020=)
c.3738G= (p.Lys1246=)
c.3387G= (p.Lys1129=)
c.3687G= (p.Lys1229=)
2g.120989400G>TCA348174386GLI2c.3435G>T (p.Lys1145Asn)
c.3486G>T (p.Lys1162Asn)
c.*2534G>T (n.*2534G>T)
c.*2543+42G>T (n.*2543+42G>T)
c.*2585G>T (n.*2585G>T)
c.*2492+42G>T (n.*2492+42G>T)
c.3468G>T (p.Lys1156Asn)
c.3345G>T (p.Lys1115Asn)
c.3291G>T (p.Lys1097Asn)
c.3111G>T (p.Lys1037Asn)
c.3060G>T (p.Lys1020Asn)
c.3738G>T (p.Lys1246Asn)
c.3387G>T (p.Lys1129Asn)
c.3687G>T (p.Lys1229Asn)
2g.120989401C>ACA348174388GLI2c.3436C>A (p.Pro1146Thr)
c.3487C>A (p.Pro1163Thr)
c.*2535C>A (n.*2535C>A)
c.*2543+43C>A (n.*2543+43C>A)
c.*2586C>A (n.*2586C>A)
c.*2492+43C>A (n.*2492+43C>A)
c.3469C>A (p.Pro1157Thr)
c.3346C>A (p.Pro1116Thr)
c.3292C>A (p.Pro1098Thr)
c.3112C>A (p.Pro1038Thr)
c.3061C>A (p.Pro1021Thr)
c.3739C>A (p.Pro1247Thr)
c.3388C>A (p.Pro1130Thr)
c.3688C>A (p.Pro1230Thr)
2g.120989401C>GCA348174389GLI2c.3436C>G (p.Pro1146Ala)
c.3487C>G (p.Pro1163Ala)
c.*2535C>G (n.*2535C>G)
c.*2543+43C>G (n.*2543+43C>G)
c.*2586C>G (n.*2586C>G)
c.*2492+43C>G (n.*2492+43C>G)
c.3469C>G (p.Pro1157Ala)
c.3346C>G (p.Pro1116Ala)
c.3292C>G (p.Pro1098Ala)
c.3112C>G (p.Pro1038Ala)
c.3061C>G (p.Pro1021Ala)
c.3739C>G (p.Pro1247Ala)
c.3388C>G (p.Pro1130Ala)
c.3688C>G (p.Pro1230Ala)
2g.120989401C>TCA348174390GLI2c.3436C>T (p.Pro1146Ser)
c.3487C>T (p.Pro1163Ser)
c.*2535C>T (n.*2535C>T)
c.*2543+43C>T (n.*2543+43C>T)
c.*2586C>T (n.*2586C>T)
c.*2492+43C>T (n.*2492+43C>T)
c.3469C>T (p.Pro1157Ser)
c.3346C>T (p.Pro1116Ser)
c.3292C>T (p.Pro1098Ser)
c.3112C>T (p.Pro1038Ser)
c.3061C>T (p.Pro1021Ser)
c.3739C>T (p.Pro1247Ser)
c.3388C>T (p.Pro1130Ser)
c.3688C>T (p.Pro1230Ser)
2g.120989404_120989410delCA2660922230GLI2c.3439_3445del (p.Pro1147PhefsTer?)
c.3490_3496del (p.Pro1164PhefsTer?)
c.*2538_*2544del (n.*2538_*2544del)
c.*2543+46_*2543+52del (n.*2543+46_*2543+52del)
c.*2589_*2595del (n.*2589_*2595del)
c.*2492+46_*2492+52del (n.*2492+46_*2492+52del)
c.3472_3478del (p.Pro1158PhefsTer?)
c.3349_3355del (p.Pro1117PhefsTer?)
c.3295_3301del (p.Pro1099PhefsTer?)
c.3115_3121del (p.Pro1039PhefsTer?)
c.3064_3070del (p.Pro1022PhefsTer?)
c.3742_3748del (p.Pro1248PhefsTer?)
c.3391_3397del (p.Pro1131PhefsTer?)
c.3691_3697del (p.Pro1231PhefsTer?)
 gnomAD v4
2g.120989402C>ACA348174391GLI2c.3437C>A (p.Pro1146His)
c.3488C>A (p.Pro1163His)
c.*2536C>A (n.*2536C>A)
c.*2543+44C>A (n.*2543+44C>A)
c.*2587C>A (n.*2587C>A)
c.*2492+44C>A (n.*2492+44C>A)
c.3470C>A (p.Pro1157His)
c.3347C>A (p.Pro1116His)
c.3293C>A (p.Pro1098His)
c.3113C>A (p.Pro1038His)
c.3062C>A (p.Pro1021His)
c.3740C>A (p.Pro1247His)
c.3389C>A (p.Pro1130His)
c.3689C>A (p.Pro1230His)
2g.120989402C>GCA348174393GLI2c.3437C>G (p.Pro1146Arg)
c.3488C>G (p.Pro1163Arg)
c.*2536C>G (n.*2536C>G)
c.*2543+44C>G (n.*2543+44C>G)
c.*2587C>G (n.*2587C>G)
c.*2492+44C>G (n.*2492+44C>G)
c.3470C>G (p.Pro1157Arg)
c.3347C>G (p.Pro1116Arg)
c.3293C>G (p.Pro1098Arg)
c.3113C>G (p.Pro1038Arg)
c.3062C>G (p.Pro1021Arg)
c.3740C>G (p.Pro1247Arg)
c.3389C>G (p.Pro1130Arg)
c.3689C>G (p.Pro1230Arg)
2g.120989402C>TCA348174395GLI2c.3437C>T (p.Pro1146Leu)
c.3488C>T (p.Pro1163Leu)
c.*2536C>T (n.*2536C>T)
c.*2543+44C>T (n.*2543+44C>T)
c.*2587C>T (n.*2587C>T)
c.*2492+44C>T (n.*2492+44C>T)
c.3470C>T (p.Pro1157Leu)
c.3347C>T (p.Pro1116Leu)
c.3293C>T (p.Pro1098Leu)
c.3113C>T (p.Pro1038Leu)
c.3062C>T (p.Pro1021Leu)
c.3740C>T (p.Pro1247Leu)
c.3389C>T (p.Pro1130Leu)
c.3689C>T (p.Pro1230Leu)
 ClinVar
2g.120989403T>ACA428749949GLI2c.3438T>A (p.Pro1146=)
c.3489T>A (p.Pro1163=)
c.*2537T>A (n.*2537T>A)
c.*2543+45T>A (n.*2543+45T>A)
c.*2588T>A (n.*2588T>A)
c.*2492+45T>A (n.*2492+45T>A)
c.3471T>A (p.Pro1157=)
c.3348T>A (p.Pro1116=)
c.3294T>A (p.Pro1098=)
c.3114T>A (p.Pro1038=)
c.3063T>A (p.Pro1021=)
c.3741T>A (p.Pro1247=)
c.3390T>A (p.Pro1130=)
c.3690T>A (p.Pro1230=)
2g.120989403T>CCA428749950GLI2c.3438T>C (p.Pro1146=)
c.3489T>C (p.Pro1163=)
c.*2537T>C (n.*2537T>C)
c.*2543+45T>C (n.*2543+45T>C)
c.*2588T>C (n.*2588T>C)
c.*2492+45T>C (n.*2492+45T>C)
c.3471T>C (p.Pro1157=)
c.3348T>C (p.Pro1116=)
c.3294T>C (p.Pro1098=)
c.3114T>C (p.Pro1038=)
c.3063T>C (p.Pro1021=)
c.3741T>C (p.Pro1247=)
c.3390T>C (p.Pro1130=)
c.3690T>C (p.Pro1230=)
 gnomAD v4
2g.120989403T>GCA428749951GLI2c.3438T>G (p.Pro1146=)
c.3489T>G (p.Pro1163=)
c.*2537T>G (n.*2537T>G)
c.*2543+45T>G (n.*2543+45T>G)
c.*2588T>G (n.*2588T>G)
c.*2492+45T>G (n.*2492+45T>G)
c.3471T>G (p.Pro1157=)
c.3348T>G (p.Pro1116=)
c.3294T>G (p.Pro1098=)
c.3114T>G (p.Pro1038=)
c.3063T>G (p.Pro1021=)
c.3741T>G (p.Pro1247=)
c.3390T>G (p.Pro1130=)
c.3690T>G (p.Pro1230=)
2g.120989404C>ACA348174397GLI2c.3439C>A (p.Pro1147Thr)
c.3490C>A (p.Pro1164Thr)
c.*2538C>A (n.*2538C>A)
c.*2543+46C>A (n.*2543+46C>A)
c.*2589C>A (n.*2589C>A)
c.*2492+46C>A (n.*2492+46C>A)
c.3472C>A (p.Pro1158Thr)
c.3349C>A (p.Pro1117Thr)
c.3295C>A (p.Pro1099Thr)
c.3115C>A (p.Pro1039Thr)
c.3064C>A (p.Pro1022Thr)
c.3742C>A (p.Pro1248Thr)
c.3391C>A (p.Pro1131Thr)
c.3691C>A (p.Pro1231Thr)
2g.120989404C=CA1283795624GLI2c.3439C= (p.Pro1147=)
c.3490C= (p.Pro1164=)
c.*2538C= (n.*2538C=)
c.*2543+46C= (n.*2543+46C=)
c.*2589C= (n.*2589C=)
c.*2492+46C= (n.*2492+46C=)
c.3472C= (p.Pro1158=)
c.3349C= (p.Pro1117=)
c.3295C= (p.Pro1099=)
c.3115C= (p.Pro1039=)
c.3064C= (p.Pro1022=)
c.3742C= (p.Pro1248=)
c.3391C= (p.Pro1131=)
c.3691C= (p.Pro1231=)
2g.120989404C>GCA1852401GLI2c.3439C>G (p.Pro1147Ala)
c.3490C>G (p.Pro1164Ala)
c.*2538C>G (n.*2538C>G)
c.*2543+46C>G (n.*2543+46C>G)
c.*2589C>G (n.*2589C>G)
c.*2492+46C>G (n.*2492+46C>G)
c.3472C>G (p.Pro1158Ala)
c.3349C>G (p.Pro1117Ala)
c.3295C>G (p.Pro1099Ala)
c.3115C>G (p.Pro1039Ala)
c.3064C>G (p.Pro1022Ala)
c.3742C>G (p.Pro1248Ala)
c.3391C>G (p.Pro1131Ala)
c.3691C>G (p.Pro1231Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989404C>TCA348174401GLI2c.3439C>T (p.Pro1147Ser)
c.3490C>T (p.Pro1164Ser)
c.*2538C>T (n.*2538C>T)
c.*2543+46C>T (n.*2543+46C>T)
c.*2589C>T (n.*2589C>T)
c.*2492+46C>T (n.*2492+46C>T)
c.3472C>T (p.Pro1158Ser)
c.3349C>T (p.Pro1117Ser)
c.3295C>T (p.Pro1099Ser)
c.3115C>T (p.Pro1039Ser)
c.3064C>T (p.Pro1022Ser)
c.3742C>T (p.Pro1248Ser)
c.3391C>T (p.Pro1131Ser)
c.3691C>T (p.Pro1231Ser)
2g.120989405C>ACA348174407GLI2c.3440C>A (p.Pro1147Gln)
c.3491C>A (p.Pro1164Gln)
c.*2539C>A (n.*2539C>A)
c.*2543+47C>A (n.*2543+47C>A)
c.*2590C>A (n.*2590C>A)
c.*2492+47C>A (n.*2492+47C>A)
c.3473C>A (p.Pro1158Gln)
c.3350C>A (p.Pro1117Gln)
c.3296C>A (p.Pro1099Gln)
c.3116C>A (p.Pro1039Gln)
c.3065C>A (p.Pro1022Gln)
c.3743C>A (p.Pro1248Gln)
c.3392C>A (p.Pro1131Gln)
c.3692C>A (p.Pro1231Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.120989405C=CA1283795625GLI2c.3440C= (p.Pro1147=)
c.3491C= (p.Pro1164=)
c.*2539C= (n.*2539C=)
c.*2543+47C= (n.*2543+47C=)
c.*2590C= (n.*2590C=)
c.*2492+47C= (n.*2492+47C=)
c.3473C= (p.Pro1158=)
c.3350C= (p.Pro1117=)
c.3296C= (p.Pro1099=)
c.3116C= (p.Pro1039=)
c.3065C= (p.Pro1022=)
c.3743C= (p.Pro1248=)
c.3392C= (p.Pro1131=)
c.3692C= (p.Pro1231=)
2g.120989405C>GCA348174405GLI2c.3440C>G (p.Pro1147Arg)
c.3491C>G (p.Pro1164Arg)
c.*2539C>G (n.*2539C>G)
c.*2543+47C>G (n.*2543+47C>G)
c.*2590C>G (n.*2590C>G)
c.*2492+47C>G (n.*2492+47C>G)
c.3473C>G (p.Pro1158Arg)
c.3350C>G (p.Pro1117Arg)
c.3296C>G (p.Pro1099Arg)
c.3116C>G (p.Pro1039Arg)
c.3065C>G (p.Pro1022Arg)
c.3743C>G (p.Pro1248Arg)
c.3392C>G (p.Pro1131Arg)
c.3692C>G (p.Pro1231Arg)
2g.120989405C>TCA348174403GLI2c.3440C>T (p.Pro1147Leu)
c.3491C>T (p.Pro1164Leu)
c.*2539C>T (n.*2539C>T)
c.*2543+47C>T (n.*2543+47C>T)
c.*2590C>T (n.*2590C>T)
c.*2492+47C>T (n.*2492+47C>T)
c.3473C>T (p.Pro1158Leu)
c.3350C>T (p.Pro1117Leu)
c.3296C>T (p.Pro1099Leu)
c.3116C>T (p.Pro1039Leu)
c.3065C>T (p.Pro1022Leu)
c.3743C>T (p.Pro1248Leu)
c.3392C>T (p.Pro1131Leu)
c.3692C>T (p.Pro1231Leu)
 dbSNP gnomAD v4
2g.120989406A=CA1283795626GLI2c.3441A= (p.Pro1147=)
c.3492A= (p.Pro1164=)
c.*2540A= (n.*2540A=)
c.*2543+48A= (n.*2543+48A=)
c.*2591A= (n.*2591A=)
c.*2492+48A= (n.*2492+48A=)
c.3474A= (p.Pro1158=)
c.3351A= (p.Pro1117=)
c.3297A= (p.Pro1099=)
c.3117A= (p.Pro1039=)
c.3066A= (p.Pro1022=)
c.3744A= (p.Pro1248=)
c.3393A= (p.Pro1131=)
c.3693A= (p.Pro1231=)
2g.120989406A>CCA428749952GLI2c.3441A>C (p.Pro1147=)
c.3492A>C (p.Pro1164=)
c.*2540A>C (n.*2540A>C)
c.*2543+48A>C (n.*2543+48A>C)
c.*2591A>C (n.*2591A>C)
c.*2492+48A>C (n.*2492+48A>C)
c.3474A>C (p.Pro1158=)
c.3351A>C (p.Pro1117=)
c.3297A>C (p.Pro1099=)
c.3117A>C (p.Pro1039=)
c.3066A>C (p.Pro1022=)
c.3744A>C (p.Pro1248=)
c.3393A>C (p.Pro1131=)
c.3693A>C (p.Pro1231=)
2g.120989406A>GCA1852402GLI2c.3441A>G (p.Pro1147=)
c.3492A>G (p.Pro1164=)
c.*2540A>G (n.*2540A>G)
c.*2543+48A>G (n.*2543+48A>G)
c.*2591A>G (n.*2591A>G)
c.*2492+48A>G (n.*2492+48A>G)
c.3474A>G (p.Pro1158=)
c.3351A>G (p.Pro1117=)
c.3297A>G (p.Pro1099=)
c.3117A>G (p.Pro1039=)
c.3066A>G (p.Pro1022=)
c.3744A>G (p.Pro1248=)
c.3393A>G (p.Pro1131=)
c.3693A>G (p.Pro1231=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989406A>TCA428749953GLI2c.3441A>T (p.Pro1147=)
c.3492A>T (p.Pro1164=)
c.*2540A>T (n.*2540A>T)
c.*2543+48A>T (n.*2543+48A>T)
c.*2591A>T (n.*2591A>T)
c.*2492+48A>T (n.*2492+48A>T)
c.3474A>T (p.Pro1158=)
c.3351A>T (p.Pro1117=)
c.3297A>T (p.Pro1099=)
c.3117A>T (p.Pro1039=)
c.3066A>T (p.Pro1022=)
c.3744A>T (p.Pro1248=)
c.3393A>T (p.Pro1131=)
c.3693A>T (p.Pro1231=)
2g.120989407C>ACA348174409GLI2c.3442C>A (p.Pro1148Thr)
c.3493C>A (p.Pro1165Thr)
c.*2541C>A (n.*2541C>A)
c.*2543+49C>A (n.*2543+49C>A)
c.*2592C>A (n.*2592C>A)
c.*2492+49C>A (n.*2492+49C>A)
c.3475C>A (p.Pro1159Thr)
c.3352C>A (p.Pro1118Thr)
c.3298C>A (p.Pro1100Thr)
c.3118C>A (p.Pro1040Thr)
c.3067C>A (p.Pro1023Thr)
c.3745C>A (p.Pro1249Thr)
c.3394C>A (p.Pro1132Thr)
c.3694C>A (p.Pro1232Thr)
2g.120989407C=CA1283795627GLI2c.3442C= (p.Pro1148=)
c.3493C= (p.Pro1165=)
c.*2541C= (n.*2541C=)
c.*2543+49C= (n.*2543+49C=)
c.*2592C= (n.*2592C=)
c.*2492+49C= (n.*2492+49C=)
c.3475C= (p.Pro1159=)
c.3352C= (p.Pro1118=)
c.3298C= (p.Pro1100=)
c.3118C= (p.Pro1040=)
c.3067C= (p.Pro1023=)
c.3745C= (p.Pro1249=)
c.3394C= (p.Pro1132=)
c.3694C= (p.Pro1232=)
2g.120989407C>GCA348174410GLI2c.3442C>G (p.Pro1148Ala)
c.3493C>G (p.Pro1165Ala)
c.*2541C>G (n.*2541C>G)
c.*2543+49C>G (n.*2543+49C>G)
c.*2592C>G (n.*2592C>G)
c.*2492+49C>G (n.*2492+49C>G)
c.3475C>G (p.Pro1159Ala)
c.3352C>G (p.Pro1118Ala)
c.3298C>G (p.Pro1100Ala)
c.3118C>G (p.Pro1040Ala)
c.3067C>G (p.Pro1023Ala)
c.3745C>G (p.Pro1249Ala)
c.3394C>G (p.Pro1132Ala)
c.3694C>G (p.Pro1232Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.120989407C>TCA348174411GLI2c.3442C>T (p.Pro1148Ser)
c.3493C>T (p.Pro1165Ser)
c.*2541C>T (n.*2541C>T)
c.*2543+49C>T (n.*2543+49C>T)
c.*2592C>T (n.*2592C>T)
c.*2492+49C>T (n.*2492+49C>T)
c.3475C>T (p.Pro1159Ser)
c.3352C>T (p.Pro1118Ser)
c.3298C>T (p.Pro1100Ser)
c.3118C>T (p.Pro1040Ser)
c.3067C>T (p.Pro1023Ser)
c.3745C>T (p.Pro1249Ser)
c.3394C>T (p.Pro1132Ser)
c.3694C>T (p.Pro1232Ser)
2g.120989409delCA2586969877GLI2c.3444del (p.Pro1150LeufsTer?)
c.3495del (p.Pro1167LeufsTer?)
c.*2543del (n.*2543del)
c.*2543+51del (n.*2543+51del)
c.*2594del (n.*2594del)
c.*2492+51del (n.*2492+51del)
c.3477del (p.Pro1161LeufsTer?)
c.3354del (p.Pro1120LeufsTer?)
c.3300del (p.Pro1102LeufsTer?)
c.3120del (p.Pro1042LeufsTer?)
c.3069del (p.Pro1025LeufsTer?)
c.3747del (p.Pro1251LeufsTer?)
c.3396del (p.Pro1134LeufsTer?)
c.3696del (p.Pro1234LeufsTer?)
2g.120989408C>ACA348174414GLI2c.3443C>A (p.Pro1148His)
c.3494C>A (p.Pro1165His)
c.*2542C>A (n.*2542C>A)
c.*2543+50C>A (n.*2543+50C>A)
c.*2593C>A (n.*2593C>A)
c.*2492+50C>A (n.*2492+50C>A)
c.3476C>A (p.Pro1159His)
c.3353C>A (p.Pro1118His)
c.3299C>A (p.Pro1100His)
c.3119C>A (p.Pro1040His)
c.3068C>A (p.Pro1023His)
c.3746C>A (p.Pro1249His)
c.3395C>A (p.Pro1132His)
c.3695C>A (p.Pro1232His)
 dbSNP gnomAD v2 gnomAD v4
2g.120989408C=CA1283795628GLI2c.3443C= (p.Pro1148=)
c.3494C= (p.Pro1165=)
c.*2542C= (n.*2542C=)
c.*2543+50C= (n.*2543+50C=)
c.*2593C= (n.*2593C=)
c.*2492+50C= (n.*2492+50C=)
c.3476C= (p.Pro1159=)
c.3353C= (p.Pro1118=)
c.3299C= (p.Pro1100=)
c.3119C= (p.Pro1040=)
c.3068C= (p.Pro1023=)
c.3746C= (p.Pro1249=)
c.3395C= (p.Pro1132=)
c.3695C= (p.Pro1232=)
2g.120989408C>GCA1852403GLI2c.3443C>G (p.Pro1148Arg)
c.3494C>G (p.Pro1165Arg)
c.*2542C>G (n.*2542C>G)
c.*2543+50C>G (n.*2543+50C>G)
c.*2593C>G (n.*2593C>G)
c.*2492+50C>G (n.*2492+50C>G)
c.3476C>G (p.Pro1159Arg)
c.3353C>G (p.Pro1118Arg)
c.3299C>G (p.Pro1100Arg)
c.3119C>G (p.Pro1040Arg)
c.3068C>G (p.Pro1023Arg)
c.3746C>G (p.Pro1249Arg)
c.3395C>G (p.Pro1132Arg)
c.3695C>G (p.Pro1232Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989408C>TCA348174415GLI2c.3443C>T (p.Pro1148Leu)
c.3494C>T (p.Pro1165Leu)
c.*2542C>T (n.*2542C>T)
c.*2543+50C>T (n.*2543+50C>T)
c.*2593C>T (n.*2593C>T)
c.*2492+50C>T (n.*2492+50C>T)
c.3476C>T (p.Pro1159Leu)
c.3353C>T (p.Pro1118Leu)
c.3299C>T (p.Pro1100Leu)
c.3119C>T (p.Pro1040Leu)
c.3068C>T (p.Pro1023Leu)
c.3746C>T (p.Pro1249Leu)
c.3395C>T (p.Pro1132Leu)
c.3695C>T (p.Pro1232Leu)
2g.120989409C>ACA428749954GLI2c.3444C>A (p.Pro1148=)
c.3495C>A (p.Pro1165=)
c.*2543C>A (n.*2543C>A)
c.*2543+51C>A (n.*2543+51C>A)
c.*2594C>A (n.*2594C>A)
c.*2492+51C>A (n.*2492+51C>A)
c.3477C>A (p.Pro1159=)
c.3354C>A (p.Pro1118=)
c.3300C>A (p.Pro1100=)
c.3120C>A (p.Pro1040=)
c.3069C>A (p.Pro1023=)
c.3747C>A (p.Pro1249=)
c.3396C>A (p.Pro1132=)
c.3696C>A (p.Pro1232=)
2g.120989409C>GCA428749955GLI2c.3444C>G (p.Pro1148=)
c.3495C>G (p.Pro1165=)
c.*2543C>G (n.*2543C>G)
c.*2543+51C>G (n.*2543+51C>G)
c.*2594C>G (n.*2594C>G)
c.*2492+51C>G (n.*2492+51C>G)
c.3477C>G (p.Pro1159=)
c.3354C>G (p.Pro1118=)
c.3300C>G (p.Pro1100=)
c.3120C>G (p.Pro1040=)
c.3069C>G (p.Pro1023=)
c.3747C>G (p.Pro1249=)
c.3396C>G (p.Pro1132=)
c.3696C>G (p.Pro1232=)
2g.120989409C>TCA428749956GLI2c.3444C>T (p.Pro1148=)
c.3495C>T (p.Pro1165=)
c.*2543C>T (n.*2543C>T)
c.*2543+51C>T (n.*2543+51C>T)
c.*2594C>T (n.*2594C>T)
c.*2492+51C>T (n.*2492+51C>T)
c.3477C>T (p.Pro1159=)
c.3354C>T (p.Pro1118=)
c.3300C>T (p.Pro1100=)
c.3120C>T (p.Pro1040=)
c.3069C>T (p.Pro1023=)
c.3747C>T (p.Pro1249=)
c.3396C>T (p.Pro1132=)
c.3696C>T (p.Pro1232=)
2g.120989410T>ACA348174416GLI2c.3445T>A (p.Phe1149Ile)
c.3496T>A (p.Phe1166Ile)
c.*2544T>A (n.*2544T>A)
c.*2543+52T>A (n.*2543+52T>A)
c.*2595T>A (n.*2595T>A)
c.*2492+52T>A (n.*2492+52T>A)
c.3478T>A (p.Phe1160Ile)
c.3355T>A (p.Phe1119Ile)
c.3301T>A (p.Phe1101Ile)
c.3121T>A (p.Phe1041Ile)
c.3070T>A (p.Phe1024Ile)
c.3748T>A (p.Phe1250Ile)
c.3397T>A (p.Phe1133Ile)
c.3697T>A (p.Phe1233Ile)
2g.120989410T>CCA348174417GLI2c.3445T>C (p.Phe1149Leu)
c.3496T>C (p.Phe1166Leu)
c.*2544T>C (n.*2544T>C)
c.*2543+52T>C (n.*2543+52T>C)
c.*2595T>C (n.*2595T>C)
c.*2492+52T>C (n.*2492+52T>C)
c.3478T>C (p.Phe1160Leu)
c.3355T>C (p.Phe1119Leu)
c.3301T>C (p.Phe1101Leu)
c.3121T>C (p.Phe1041Leu)
c.3070T>C (p.Phe1024Leu)
c.3748T>C (p.Phe1250Leu)
c.3397T>C (p.Phe1133Leu)
c.3697T>C (p.Phe1233Leu)
2g.120989410T>GCA348174418GLI2c.3445T>G (p.Phe1149Val)
c.3496T>G (p.Phe1166Val)
c.*2544T>G (n.*2544T>G)
c.*2543+52T>G (n.*2543+52T>G)
c.*2595T>G (n.*2595T>G)
c.*2492+52T>G (n.*2492+52T>G)
c.3478T>G (p.Phe1160Val)
c.3355T>G (p.Phe1119Val)
c.3301T>G (p.Phe1101Val)
c.3121T>G (p.Phe1041Val)
c.3070T>G (p.Phe1024Val)
c.3748T>G (p.Phe1250Val)
c.3397T>G (p.Phe1133Val)
c.3697T>G (p.Phe1233Val)
2g.120989411T>ACA348174421GLI2c.3446T>A (p.Phe1149Tyr)
c.3497T>A (p.Phe1166Tyr)
c.*2545T>A (n.*2545T>A)
c.*2543+53T>A (n.*2543+53T>A)
c.*2596T>A (n.*2596T>A)
c.*2492+53T>A (n.*2492+53T>A)
c.3479T>A (p.Phe1160Tyr)
c.3356T>A (p.Phe1119Tyr)
c.3302T>A (p.Phe1101Tyr)
c.3122T>A (p.Phe1041Tyr)
c.3071T>A (p.Phe1024Tyr)
c.3749T>A (p.Phe1250Tyr)
c.3398T>A (p.Phe1133Tyr)
c.3698T>A (p.Phe1233Tyr)
2g.120989411T>CCA348174422GLI2c.3446T>C (p.Phe1149Ser)
c.3497T>C (p.Phe1166Ser)
c.*2545T>C (n.*2545T>C)
c.*2543+53T>C (n.*2543+53T>C)
c.*2596T>C (n.*2596T>C)
c.*2492+53T>C (n.*2492+53T>C)
c.3479T>C (p.Phe1160Ser)
c.3356T>C (p.Phe1119Ser)
c.3302T>C (p.Phe1101Ser)
c.3122T>C (p.Phe1041Ser)
c.3071T>C (p.Phe1024Ser)
c.3749T>C (p.Phe1250Ser)
c.3398T>C (p.Phe1133Ser)
c.3698T>C (p.Phe1233Ser)
2g.120989411T>GCA348174424GLI2c.3446T>G (p.Phe1149Cys)
c.3497T>G (p.Phe1166Cys)
c.*2545T>G (n.*2545T>G)
c.*2543+53T>G (n.*2543+53T>G)
c.*2596T>G (n.*2596T>G)
c.*2492+53T>G (n.*2492+53T>G)
c.3479T>G (p.Phe1160Cys)
c.3356T>G (p.Phe1119Cys)
c.3302T>G (p.Phe1101Cys)
c.3122T>G (p.Phe1041Cys)
c.3071T>G (p.Phe1024Cys)
c.3749T>G (p.Phe1250Cys)
c.3398T>G (p.Phe1133Cys)
c.3698T>G (p.Phe1233Cys)
2g.120989412T>ACA348174427GLI2c.3447T>A (p.Phe1149Leu)
c.3498T>A (p.Phe1166Leu)
c.*2546T>A (n.*2546T>A)
c.*2543+54T>A (n.*2543+54T>A)
c.*2597T>A (n.*2597T>A)
c.*2492+54T>A (n.*2492+54T>A)
c.3480T>A (p.Phe1160Leu)
c.3357T>A (p.Phe1119Leu)
c.3303T>A (p.Phe1101Leu)
c.3123T>A (p.Phe1041Leu)
c.3072T>A (p.Phe1024Leu)
c.3750T>A (p.Phe1250Leu)
c.3399T>A (p.Phe1133Leu)
c.3699T>A (p.Phe1233Leu)
2g.120989412T>CCA428749957GLI2c.3447T>C (p.Phe1149=)
c.3498T>C (p.Phe1166=)
c.*2546T>C (n.*2546T>C)
c.*2543+54T>C (n.*2543+54T>C)
c.*2597T>C (n.*2597T>C)
c.*2492+54T>C (n.*2492+54T>C)
c.3480T>C (p.Phe1160=)
c.3357T>C (p.Phe1119=)
c.3303T>C (p.Phe1101=)
c.3123T>C (p.Phe1041=)
c.3072T>C (p.Phe1024=)
c.3750T>C (p.Phe1250=)
c.3399T>C (p.Phe1133=)
c.3699T>C (p.Phe1233=)
2g.120989412T>GCA348174428GLI2c.3447T>G (p.Phe1149Leu)
c.3498T>G (p.Phe1166Leu)
c.*2546T>G (n.*2546T>G)
c.*2543+54T>G (n.*2543+54T>G)
c.*2597T>G (n.*2597T>G)
c.*2492+54T>G (n.*2492+54T>G)
c.3480T>G (p.Phe1160Leu)
c.3357T>G (p.Phe1119Leu)
c.3303T>G (p.Phe1101Leu)
c.3123T>G (p.Phe1041Leu)
c.3072T>G (p.Phe1024Leu)
c.3750T>G (p.Phe1250Leu)
c.3399T>G (p.Phe1133Leu)
c.3699T>G (p.Phe1233Leu)
2g.120989413C>ACA348174431GLI2c.3448C>A (p.Pro1150Thr)
c.3499C>A (p.Pro1167Thr)
c.*2547C>A (n.*2547C>A)
c.*2543+55C>A (n.*2543+55C>A)
c.*2598C>A (n.*2598C>A)
c.*2492+55C>A (n.*2492+55C>A)
c.3481C>A (p.Pro1161Thr)
c.3358C>A (p.Pro1120Thr)
c.3304C>A (p.Pro1102Thr)
c.3124C>A (p.Pro1042Thr)
c.3073C>A (p.Pro1025Thr)
c.3751C>A (p.Pro1251Thr)
c.3400C>A (p.Pro1134Thr)
c.3700C>A (p.Pro1234Thr)
2g.120989413C=CA1283795629GLI2c.3448C= (p.Pro1150=)
c.3499C= (p.Pro1167=)
c.*2547C= (n.*2547C=)
c.*2543+55C= (n.*2543+55C=)
c.*2598C= (n.*2598C=)
c.*2492+55C= (n.*2492+55C=)
c.3481C= (p.Pro1161=)
c.3358C= (p.Pro1120=)
c.3304C= (p.Pro1102=)
c.3124C= (p.Pro1042=)
c.3073C= (p.Pro1025=)
c.3751C= (p.Pro1251=)
c.3400C= (p.Pro1134=)
c.3700C= (p.Pro1234=)
2g.120989413C>GCA348174433GLI2c.3448C>G (p.Pro1150Ala)
c.3499C>G (p.Pro1167Ala)
c.*2547C>G (n.*2547C>G)
c.*2543+55C>G (n.*2543+55C>G)
c.*2598C>G (n.*2598C>G)
c.*2492+55C>G (n.*2492+55C>G)
c.3481C>G (p.Pro1161Ala)
c.3358C>G (p.Pro1120Ala)
c.3304C>G (p.Pro1102Ala)
c.3124C>G (p.Pro1042Ala)
c.3073C>G (p.Pro1025Ala)
c.3751C>G (p.Pro1251Ala)
c.3400C>G (p.Pro1134Ala)
c.3700C>G (p.Pro1234Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.120989413C>TCA348174435GLI2c.3448C>T (p.Pro1150Ser)
c.3499C>T (p.Pro1167Ser)
c.*2547C>T (n.*2547C>T)
c.*2543+55C>T (n.*2543+55C>T)
c.*2598C>T (n.*2598C>T)
c.*2492+55C>T (n.*2492+55C>T)
c.3481C>T (p.Pro1161Ser)
c.3358C>T (p.Pro1120Ser)
c.3304C>T (p.Pro1102Ser)
c.3124C>T (p.Pro1042Ser)
c.3073C>T (p.Pro1025Ser)
c.3751C>T (p.Pro1251Ser)
c.3400C>T (p.Pro1134Ser)
c.3700C>T (p.Pro1234Ser)
2g.120989414C>ACA348174438GLI2c.3449C>A (p.Pro1150His)
c.3500C>A (p.Pro1167His)
c.*2548C>A (n.*2548C>A)
c.*2543+56C>A (n.*2543+56C>A)
c.*2599C>A (n.*2599C>A)
c.*2492+56C>A (n.*2492+56C>A)
c.3482C>A (p.Pro1161His)
c.3359C>A (p.Pro1120His)
c.3305C>A (p.Pro1102His)
c.3125C>A (p.Pro1042His)
c.3074C>A (p.Pro1025His)
c.3752C>A (p.Pro1251His)
c.3401C>A (p.Pro1134His)
c.3701C>A (p.Pro1234His)
2g.120989414C>GCA348174439GLI2c.3449C>G (p.Pro1150Arg)
c.3500C>G (p.Pro1167Arg)
c.*2548C>G (n.*2548C>G)
c.*2543+56C>G (n.*2543+56C>G)
c.*2599C>G (n.*2599C>G)
c.*2492+56C>G (n.*2492+56C>G)
c.3482C>G (p.Pro1161Arg)
c.3359C>G (p.Pro1120Arg)
c.3305C>G (p.Pro1102Arg)
c.3125C>G (p.Pro1042Arg)
c.3074C>G (p.Pro1025Arg)
c.3752C>G (p.Pro1251Arg)
c.3401C>G (p.Pro1134Arg)
c.3701C>G (p.Pro1234Arg)
2g.120989414C>TCA348174441GLI2c.3449C>T (p.Pro1150Leu)
c.3500C>T (p.Pro1167Leu)
c.*2548C>T (n.*2548C>T)
c.*2543+56C>T (n.*2543+56C>T)
c.*2599C>T (n.*2599C>T)
c.*2492+56C>T (n.*2492+56C>T)
c.3482C>T (p.Pro1161Leu)
c.3359C>T (p.Pro1120Leu)
c.3305C>T (p.Pro1102Leu)
c.3125C>T (p.Pro1042Leu)
c.3074C>T (p.Pro1025Leu)
c.3752C>T (p.Pro1251Leu)
c.3401C>T (p.Pro1134Leu)
c.3701C>T (p.Pro1234Leu)
2g.120989415T>ACA428749958GLI2c.3450T>A (p.Pro1150=)
c.3501T>A (p.Pro1167=)
c.*2549T>A (n.*2549T>A)
c.*2543+57T>A (n.*2543+57T>A)
c.*2600T>A (n.*2600T>A)
c.*2492+57T>A (n.*2492+57T>A)
c.3483T>A (p.Pro1161=)
c.3360T>A (p.Pro1120=)
c.3306T>A (p.Pro1102=)
c.3126T>A (p.Pro1042=)
c.3075T>A (p.Pro1025=)
c.3753T>A (p.Pro1251=)
c.3402T>A (p.Pro1134=)
c.3702T>A (p.Pro1234=)
 COSMIC
2g.120989415T>CCA428749959GLI2c.3450T>C (p.Pro1150=)
c.3501T>C (p.Pro1167=)
c.*2549T>C (n.*2549T>C)
c.*2543+57T>C (n.*2543+57T>C)
c.*2600T>C (n.*2600T>C)
c.*2492+57T>C (n.*2492+57T>C)
c.3483T>C (p.Pro1161=)
c.3360T>C (p.Pro1120=)
c.3306T>C (p.Pro1102=)
c.3126T>C (p.Pro1042=)
c.3075T>C (p.Pro1025=)
c.3753T>C (p.Pro1251=)
c.3402T>C (p.Pro1134=)
c.3702T>C (p.Pro1234=)
 dbSNP
2g.120989415T>GCA428749960GLI2c.3450T>G (p.Pro1150=)
c.3501T>G (p.Pro1167=)
c.*2549T>G (n.*2549T>G)
c.*2543+57T>G (n.*2543+57T>G)
c.*2600T>G (n.*2600T>G)
c.*2492+57T>G (n.*2492+57T>G)
c.3483T>G (p.Pro1161=)
c.3360T>G (p.Pro1120=)
c.3306T>G (p.Pro1102=)
c.3126T>G (p.Pro1042=)
c.3075T>G (p.Pro1025=)
c.3753T>G (p.Pro1251=)
c.3402T>G (p.Pro1134=)
c.3702T>G (p.Pro1234=)
2g.120989415T=CA1283795630GLI2c.3450T= (p.Pro1150=)
c.3501T= (p.Pro1167=)
c.*2549T= (n.*2549T=)
c.*2543+57T= (n.*2543+57T=)
c.*2600T= (n.*2600T=)
c.*2492+57T= (n.*2492+57T=)
c.3483T= (p.Pro1161=)
c.3360T= (p.Pro1120=)
c.3306T= (p.Pro1102=)
c.3126T= (p.Pro1042=)
c.3075T= (p.Pro1025=)
c.3753T= (p.Pro1251=)
c.3402T= (p.Pro1134=)
c.3702T= (p.Pro1234=)
2g.120989416C>ACA348174447GLI2c.3451C>A (p.Gln1151Lys)
c.3502C>A (p.Gln1168Lys)
c.*2550C>A (n.*2550C>A)
c.*2543+58C>A (n.*2543+58C>A)
c.*2601C>A (n.*2601C>A)
c.*2492+58C>A (n.*2492+58C>A)
c.3484C>A (p.Gln1162Lys)
c.3361C>A (p.Gln1121Lys)
c.3307C>A (p.Gln1103Lys)
c.3127C>A (p.Gln1043Lys)
c.3076C>A (p.Gln1026Lys)
c.3754C>A (p.Gln1252Lys)
c.3403C>A (p.Gln1135Lys)
c.3703C>A (p.Gln1235Lys)
 dbSNP gnomAD v2
2g.120989416C=CA1283795631GLI2c.3451C= (p.Gln1151=)
c.3502C= (p.Gln1168=)
c.*2550C= (n.*2550C=)
c.*2543+58C= (n.*2543+58C=)
c.*2601C= (n.*2601C=)
c.*2492+58C= (n.*2492+58C=)
c.3484C= (p.Gln1162=)
c.3361C= (p.Gln1121=)
c.3307C= (p.Gln1103=)
c.3127C= (p.Gln1043=)
c.3076C= (p.Gln1026=)
c.3754C= (p.Gln1252=)
c.3403C= (p.Gln1135=)
c.3703C= (p.Gln1235=)
2g.120989416C>GCA348174444GLI2c.3451C>G (p.Gln1151Glu)
c.3502C>G (p.Gln1168Glu)
c.*2550C>G (n.*2550C>G)
c.*2543+58C>G (n.*2543+58C>G)
c.*2601C>G (n.*2601C>G)
c.*2492+58C>G (n.*2492+58C>G)
c.3484C>G (p.Gln1162Glu)
c.3361C>G (p.Gln1121Glu)
c.3307C>G (p.Gln1103Glu)
c.3127C>G (p.Gln1043Glu)
c.3076C>G (p.Gln1026Glu)
c.3754C>G (p.Gln1252Glu)
c.3403C>G (p.Gln1135Glu)
c.3703C>G (p.Gln1235Glu)
2g.120989416C>TCA348174446GLI2c.3451C>T (p.Gln1151Ter)
c.3502C>T (p.Gln1168Ter)
c.*2550C>T (n.*2550C>T)
c.*2543+58C>T (n.*2543+58C>T)
c.*2601C>T (n.*2601C>T)
c.*2492+58C>T (n.*2492+58C>T)
c.3484C>T (p.Gln1162Ter)
c.3361C>T (p.Gln1121Ter)
c.3307C>T (p.Gln1103Ter)
c.3127C>T (p.Gln1043Ter)
c.3076C>T (p.Gln1026Ter)
c.3754C>T (p.Gln1252Ter)
c.3403C>T (p.Gln1135Ter)
c.3703C>T (p.Gln1235Ter)
2g.120989417A>CCA348174448GLI2c.3452A>C (p.Gln1151Pro)
c.3503A>C (p.Gln1168Pro)
c.*2551A>C (n.*2551A>C)
c.*2543+59A>C (n.*2543+59A>C)
c.*2602A>C (n.*2602A>C)
c.*2492+59A>C (n.*2492+59A>C)
c.3485A>C (p.Gln1162Pro)
c.3362A>C (p.Gln1121Pro)
c.3308A>C (p.Gln1103Pro)
c.3128A>C (p.Gln1043Pro)
c.3077A>C (p.Gln1026Pro)
c.3755A>C (p.Gln1252Pro)
c.3404A>C (p.Gln1135Pro)
c.3704A>C (p.Gln1235Pro)
 gnomAD v4
2g.120989417A>GCA348174450GLI2c.3452A>G (p.Gln1151Arg)
c.3503A>G (p.Gln1168Arg)
c.*2551A>G (n.*2551A>G)
c.*2543+59A>G (n.*2543+59A>G)
c.*2602A>G (n.*2602A>G)
c.*2492+59A>G (n.*2492+59A>G)
c.3485A>G (p.Gln1162Arg)
c.3362A>G (p.Gln1121Arg)
c.3308A>G (p.Gln1103Arg)
c.3128A>G (p.Gln1043Arg)
c.3077A>G (p.Gln1026Arg)
c.3755A>G (p.Gln1252Arg)
c.3404A>G (p.Gln1135Arg)
c.3704A>G (p.Gln1235Arg)
 ClinVar
2g.120989417A>TCA348174452GLI2c.3452A>T (p.Gln1151Leu)
c.3503A>T (p.Gln1168Leu)
c.*2551A>T (n.*2551A>T)
c.*2543+59A>T (n.*2543+59A>T)
c.*2602A>T (n.*2602A>T)
c.*2492+59A>T (n.*2492+59A>T)
c.3485A>T (p.Gln1162Leu)
c.3362A>T (p.Gln1121Leu)
c.3308A>T (p.Gln1103Leu)
c.3128A>T (p.Gln1043Leu)
c.3077A>T (p.Gln1026Leu)
c.3755A>T (p.Gln1252Leu)
c.3404A>T (p.Gln1135Leu)
c.3704A>T (p.Gln1235Leu)
2g.120989417_120989418delCA2580063765GLI2c.3452_3453del (p.Gln1151ArgfsTer26)
c.3503_3504del (p.Gln1168ArgfsTer26)
c.*2551_*2552del (n.*2551_*2552del)
c.*2543+59_*2543+60del (n.*2543+59_*2543+60del)
c.*2602_*2603del (n.*2602_*2603del)
c.*2492+59_*2492+60del (n.*2492+59_*2492+60del)
c.3485_3486del (p.Gln1162ArgfsTer26)
c.3362_3363del (p.Gln1121ArgfsTer26)
c.3308_3309del (p.Gln1103ArgfsTer26)
c.3128_3129del (p.Gln1043ArgfsTer26)
c.3077_3078del (p.Gln1026ArgfsTer26)
c.3755_3756del (p.Gln1252ArgfsTer26)
c.3404_3405del (p.Gln1135ArgfsTer26)
c.3704_3705del (p.Gln1235ArgfsTer26)
 ClinVar
2g.120989418G>ACA428749961GLI2c.3453G>A (p.Gln1151=)
c.3504G>A (p.Gln1168=)
c.*2552G>A (n.*2552G>A)
c.*2543+60G>A (n.*2543+60G>A)
c.*2603G>A (n.*2603G>A)
c.*2492+60G>A (n.*2492+60G>A)
c.3486G>A (p.Gln1162=)
c.3363G>A (p.Gln1121=)
c.3309G>A (p.Gln1103=)
c.3129G>A (p.Gln1043=)
c.3078G>A (p.Gln1026=)
c.3756G>A (p.Gln1252=)
c.3405G>A (p.Gln1135=)
c.3705G>A (p.Gln1235=)
2g.120989418G>CCA348174454GLI2c.3453G>C (p.Gln1151His)
c.3504G>C (p.Gln1168His)
c.*2552G>C (n.*2552G>C)
c.*2543+60G>C (n.*2543+60G>C)
c.*2603G>C (n.*2603G>C)
c.*2492+60G>C (n.*2492+60G>C)
c.3486G>C (p.Gln1162His)
c.3363G>C (p.Gln1121His)
c.3309G>C (p.Gln1103His)
c.3129G>C (p.Gln1043His)
c.3078G>C (p.Gln1026His)
c.3756G>C (p.Gln1252His)
c.3405G>C (p.Gln1135His)
c.3705G>C (p.Gln1235His)
2g.120989418G=CA1283795632GLI2c.3453G= (p.Gln1151=)
c.3504G= (p.Gln1168=)
c.*2552G= (n.*2552G=)
c.*2543+60G= (n.*2543+60G=)
c.*2603G= (n.*2603G=)
c.*2492+60G= (n.*2492+60G=)
c.3486G= (p.Gln1162=)
c.3363G= (p.Gln1121=)
c.3309G= (p.Gln1103=)
c.3129G= (p.Gln1043=)
c.3078G= (p.Gln1026=)
c.3756G= (p.Gln1252=)
c.3405G= (p.Gln1135=)
c.3705G= (p.Gln1235=)
2g.120989418G>TCA1852404GLI2c.3453G>T (p.Gln1151His)
c.3504G>T (p.Gln1168His)
c.*2552G>T (n.*2552G>T)
c.*2543+60G>T (n.*2543+60G>T)
c.*2603G>T (n.*2603G>T)
c.*2492+60G>T (n.*2492+60G>T)
c.3486G>T (p.Gln1162His)
c.3363G>T (p.Gln1121His)
c.3309G>T (p.Gln1103His)
c.3129G>T (p.Gln1043His)
c.3078G>T (p.Gln1026His)
c.3756G>T (p.Gln1252His)
c.3405G>T (p.Gln1135His)
c.3705G>T (p.Gln1235His)
 dbSNP ExAC gnomAD v2
2g.120989420delCA2660922231GLI2c.3455del (p.Gly1152AlafsTer?)
c.3506del (p.Gly1169AlafsTer?)
c.*2554del (n.*2554del)
c.*2543+62del (n.*2543+62del)
c.*2605del (n.*2605del)
c.*2492+62del (n.*2492+62del)
c.3488del (p.Gly1163AlafsTer?)
c.3365del (p.Gly1122AlafsTer?)
c.3311del (p.Gly1104AlafsTer?)
c.3131del (p.Gly1044AlafsTer?)
c.3080del (p.Gly1027AlafsTer?)
c.3758del (p.Gly1253AlafsTer?)
c.3407del (p.Gly1136AlafsTer?)
c.3707del (p.Gly1236AlafsTer?)
 gnomAD v4
2g.120989419G>ACA348174461GLI2c.3454G>A (p.Gly1152Ser)
c.3505G>A (p.Gly1169Ser)
c.*2553G>A (n.*2553G>A)
c.*2543+61G>A (n.*2543+61G>A)
c.*2604G>A (n.*2604G>A)
c.*2492+61G>A (n.*2492+61G>A)
c.3487G>A (p.Gly1163Ser)
c.3364G>A (p.Gly1122Ser)
c.3310G>A (p.Gly1104Ser)
c.3130G>A (p.Gly1044Ser)
c.3079G>A (p.Gly1027Ser)
c.3757G>A (p.Gly1253Ser)
c.3406G>A (p.Gly1136Ser)
c.3706G>A (p.Gly1236Ser)
 gnomAD v4
2g.120989419G>CCA348174465GLI2c.3454G>C (p.Gly1152Arg)
c.3505G>C (p.Gly1169Arg)
c.*2553G>C (n.*2553G>C)
c.*2543+61G>C (n.*2543+61G>C)
c.*2604G>C (n.*2604G>C)
c.*2492+61G>C (n.*2492+61G>C)
c.3487G>C (p.Gly1163Arg)
c.3364G>C (p.Gly1122Arg)
c.3310G>C (p.Gly1104Arg)
c.3130G>C (p.Gly1044Arg)
c.3079G>C (p.Gly1027Arg)
c.3757G>C (p.Gly1253Arg)
c.3406G>C (p.Gly1136Arg)
c.3706G>C (p.Gly1236Arg)
 gnomAD v4
2g.120989419G>TCA348174464GLI2c.3454G>T (p.Gly1152Cys)
c.3505G>T (p.Gly1169Cys)
c.*2553G>T (n.*2553G>T)
c.*2543+61G>T (n.*2543+61G>T)
c.*2604G>T (n.*2604G>T)
c.*2492+61G>T (n.*2492+61G>T)
c.3487G>T (p.Gly1163Cys)
c.3364G>T (p.Gly1122Cys)
c.3310G>T (p.Gly1104Cys)
c.3130G>T (p.Gly1044Cys)
c.3079G>T (p.Gly1027Cys)
c.3757G>T (p.Gly1253Cys)
c.3406G>T (p.Gly1136Cys)
c.3706G>T (p.Gly1236Cys)
2g.120989420G>ACA348174469GLI2c.3455G>A (p.Gly1152Asp)
c.3506G>A (p.Gly1169Asp)
c.*2554G>A (n.*2554G>A)
c.*2543+62G>A (n.*2543+62G>A)
c.*2605G>A (n.*2605G>A)
c.*2492+62G>A (n.*2492+62G>A)
c.3488G>A (p.Gly1163Asp)
c.3365G>A (p.Gly1122Asp)
c.3311G>A (p.Gly1104Asp)
c.3131G>A (p.Gly1044Asp)
c.3080G>A (p.Gly1027Asp)
c.3758G>A (p.Gly1253Asp)
c.3407G>A (p.Gly1136Asp)
c.3707G>A (p.Gly1236Asp)
2g.120989420G>CCA348174474GLI2c.3455G>C (p.Gly1152Ala)
c.3506G>C (p.Gly1169Ala)
c.*2554G>C (n.*2554G>C)
c.*2543+62G>C (n.*2543+62G>C)
c.*2605G>C (n.*2605G>C)
c.*2492+62G>C (n.*2492+62G>C)
c.3488G>C (p.Gly1163Ala)
c.3365G>C (p.Gly1122Ala)
c.3311G>C (p.Gly1104Ala)
c.3131G>C (p.Gly1044Ala)
c.3080G>C (p.Gly1027Ala)
c.3758G>C (p.Gly1253Ala)
c.3407G>C (p.Gly1136Ala)
c.3707G>C (p.Gly1236Ala)
2g.120989420G>TCA348174476GLI2c.3455G>T (p.Gly1152Val)
c.3506G>T (p.Gly1169Val)
c.*2554G>T (n.*2554G>T)
c.*2543+62G>T (n.*2543+62G>T)
c.*2605G>T (n.*2605G>T)
c.*2492+62G>T (n.*2492+62G>T)
c.3488G>T (p.Gly1163Val)
c.3365G>T (p.Gly1122Val)
c.3311G>T (p.Gly1104Val)
c.3131G>T (p.Gly1044Val)
c.3080G>T (p.Gly1027Val)
c.3758G>T (p.Gly1253Val)
c.3407G>T (p.Gly1136Val)
c.3707G>T (p.Gly1236Val)
 dbSNP
2g.120989421C>ACA428749962GLI2c.3456C>A (p.Gly1152=)
c.3507C>A (p.Gly1169=)
c.*2555C>A (n.*2555C>A)
c.*2543+63C>A (n.*2543+63C>A)
c.*2606C>A (n.*2606C>A)
c.*2492+63C>A (n.*2492+63C>A)
c.3489C>A (p.Gly1163=)
c.3366C>A (p.Gly1122=)
c.3312C>A (p.Gly1104=)
c.3132C>A (p.Gly1044=)
c.3081C>A (p.Gly1027=)
c.3759C>A (p.Gly1253=)
c.3408C>A (p.Gly1136=)
c.3708C>A (p.Gly1236=)
2g.120989421C>GCA428749963GLI2c.3456C>G (p.Gly1152=)
c.3507C>G (p.Gly1169=)
c.*2555C>G (n.*2555C>G)
c.*2543+63C>G (n.*2543+63C>G)
c.*2606C>G (n.*2606C>G)
c.*2492+63C>G (n.*2492+63C>G)
c.3489C>G (p.Gly1163=)
c.3366C>G (p.Gly1122=)
c.3312C>G (p.Gly1104=)
c.3132C>G (p.Gly1044=)
c.3081C>G (p.Gly1027=)
c.3759C>G (p.Gly1253=)
c.3408C>G (p.Gly1136=)
c.3708C>G (p.Gly1236=)
2g.120989421C>TCA428749964GLI2c.3456C>T (p.Gly1152=)
c.3507C>T (p.Gly1169=)
c.*2555C>T (n.*2555C>T)
c.*2543+63C>T (n.*2543+63C>T)
c.*2606C>T (n.*2606C>T)
c.*2492+63C>T (n.*2492+63C>T)
c.3489C>T (p.Gly1163=)
c.3366C>T (p.Gly1122=)
c.3312C>T (p.Gly1104=)
c.3132C>T (p.Gly1044=)
c.3081C>T (p.Gly1027=)
c.3759C>T (p.Gly1253=)
c.3408C>T (p.Gly1136=)
c.3708C>T (p.Gly1236=)
2g.120989422A>CCA348174480GLI2c.3457A>C (p.Asn1153His)
c.3508A>C (p.Asn1170His)
c.*2556A>C (n.*2556A>C)
c.*2543+64A>C (n.*2543+64A>C)
c.*2607A>C (n.*2607A>C)
c.*2492+64A>C (n.*2492+64A>C)
c.3490A>C (p.Asn1164His)
c.3367A>C (p.Asn1123His)
c.3313A>C (p.Asn1105His)
c.3133A>C (p.Asn1045His)
c.3082A>C (p.Asn1028His)
c.3760A>C (p.Asn1254His)
c.3409A>C (p.Asn1137His)
c.3709A>C (p.Asn1237His)
2g.120989422A>GCA348174482GLI2c.3457A>G (p.Asn1153Asp)
c.3508A>G (p.Asn1170Asp)
c.*2556A>G (n.*2556A>G)
c.*2543+64A>G (n.*2543+64A>G)
c.*2607A>G (n.*2607A>G)
c.*2492+64A>G (n.*2492+64A>G)
c.3490A>G (p.Asn1164Asp)
c.3367A>G (p.Asn1123Asp)
c.3313A>G (p.Asn1105Asp)
c.3133A>G (p.Asn1045Asp)
c.3082A>G (p.Asn1028Asp)
c.3760A>G (p.Asn1254Asp)
c.3409A>G (p.Asn1137Asp)
c.3709A>G (p.Asn1237Asp)
2g.120989422A>TCA348174483GLI2c.3457A>T (p.Asn1153Tyr)
c.3508A>T (p.Asn1170Tyr)
c.*2556A>T (n.*2556A>T)
c.*2543+64A>T (n.*2543+64A>T)
c.*2607A>T (n.*2607A>T)
c.*2492+64A>T (n.*2492+64A>T)
c.3490A>T (p.Asn1164Tyr)
c.3367A>T (p.Asn1123Tyr)
c.3313A>T (p.Asn1105Tyr)
c.3133A>T (p.Asn1045Tyr)
c.3082A>T (p.Asn1028Tyr)
c.3760A>T (p.Asn1254Tyr)
c.3409A>T (p.Asn1137Tyr)
c.3709A>T (p.Asn1237Tyr)
2g.120989423A>CCA348174487GLI2c.3458A>C (p.Asn1153Thr)
c.3509A>C (p.Asn1170Thr)
c.*2557A>C (n.*2557A>C)
c.*2543+65A>C (n.*2543+65A>C)
c.*2608A>C (n.*2608A>C)
c.*2492+65A>C (n.*2492+65A>C)
c.3491A>C (p.Asn1164Thr)
c.3368A>C (p.Asn1123Thr)
c.3314A>C (p.Asn1105Thr)
c.3134A>C (p.Asn1045Thr)
c.3083A>C (p.Asn1028Thr)
c.3761A>C (p.Asn1254Thr)
c.3410A>C (p.Asn1137Thr)
c.3710A>C (p.Asn1237Thr)
2g.120989423A>GCA348174488GLI2c.3458A>G (p.Asn1153Ser)
c.3509A>G (p.Asn1170Ser)
c.*2557A>G (n.*2557A>G)
c.*2543+65A>G (n.*2543+65A>G)
c.*2608A>G (n.*2608A>G)
c.*2492+65A>G (n.*2492+65A>G)
c.3491A>G (p.Asn1164Ser)
c.3368A>G (p.Asn1123Ser)
c.3314A>G (p.Asn1105Ser)
c.3134A>G (p.Asn1045Ser)
c.3083A>G (p.Asn1028Ser)
c.3761A>G (p.Asn1254Ser)
c.3410A>G (p.Asn1137Ser)
c.3710A>G (p.Asn1237Ser)
 gnomAD v4
2g.120989423A>TCA348174491GLI2c.3458A>T (p.Asn1153Ile)
c.3509A>T (p.Asn1170Ile)
c.*2557A>T (n.*2557A>T)
c.*2543+65A>T (n.*2543+65A>T)
c.*2608A>T (n.*2608A>T)
c.*2492+65A>T (n.*2492+65A>T)
c.3491A>T (p.Asn1164Ile)
c.3368A>T (p.Asn1123Ile)
c.3314A>T (p.Asn1105Ile)
c.3134A>T (p.Asn1045Ile)
c.3083A>T (p.Asn1028Ile)
c.3761A>T (p.Asn1254Ile)
c.3410A>T (p.Asn1137Ile)
c.3710A>T (p.Asn1237Ile)
2g.120989424C>ACA348174495GLI2c.3459C>A (p.Asn1153Lys)
c.3510C>A (p.Asn1170Lys)
c.*2558C>A (n.*2558C>A)
c.*2543+66C>A (n.*2543+66C>A)
c.*2609C>A (n.*2609C>A)
c.*2492+66C>A (n.*2492+66C>A)
c.3492C>A (p.Asn1164Lys)
c.3369C>A (p.Asn1123Lys)
c.3315C>A (p.Asn1105Lys)
c.3135C>A (p.Asn1045Lys)
c.3084C>A (p.Asn1028Lys)
c.3762C>A (p.Asn1254Lys)
c.3411C>A (p.Asn1137Lys)
c.3711C>A (p.Asn1237Lys)
2g.120989424C=CA1283795633GLI2c.3459C= (p.Asn1153=)
c.3510C= (p.Asn1170=)
c.*2558C= (n.*2558C=)
c.*2543+66C= (n.*2543+66C=)
c.*2609C= (n.*2609C=)
c.*2492+66C= (n.*2492+66C=)
c.3492C= (p.Asn1164=)
c.3369C= (p.Asn1123=)
c.3315C= (p.Asn1105=)
c.3135C= (p.Asn1045=)
c.3084C= (p.Asn1028=)
c.3762C= (p.Asn1254=)
c.3411C= (p.Asn1137=)
c.3711C= (p.Asn1237=)
2g.120989424C>GCA1852405GLI2c.3459C>G (p.Asn1153Lys)
c.3510C>G (p.Asn1170Lys)
c.*2558C>G (n.*2558C>G)
c.*2543+66C>G (n.*2543+66C>G)
c.*2609C>G (n.*2609C>G)
c.*2492+66C>G (n.*2492+66C>G)
c.3492C>G (p.Asn1164Lys)
c.3369C>G (p.Asn1123Lys)
c.3315C>G (p.Asn1105Lys)
c.3135C>G (p.Asn1045Lys)
c.3084C>G (p.Asn1028Lys)
c.3762C>G (p.Asn1254Lys)
c.3411C>G (p.Asn1137Lys)
c.3711C>G (p.Asn1237Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989424C>TCA428749965GLI2c.3459C>T (p.Asn1153=)
c.3510C>T (p.Asn1170=)
c.*2558C>T (n.*2558C>T)
c.*2543+66C>T (n.*2543+66C>T)
c.*2609C>T (n.*2609C>T)
c.*2492+66C>T (n.*2492+66C>T)
c.3492C>T (p.Asn1164=)
c.3369C>T (p.Asn1123=)
c.3315C>T (p.Asn1105=)
c.3135C>T (p.Asn1045=)
c.3084C>T (p.Asn1028=)
c.3762C>T (p.Asn1254=)
c.3411C>T (p.Asn1137=)
c.3711C>T (p.Asn1237=)
 gnomAD v4
2g.120989425C>ACA348174500GLI2c.3460C>A (p.Leu1154Met)
c.3511C>A (p.Leu1171Met)
c.*2559C>A (n.*2559C>A)
c.*2543+67C>A (n.*2543+67C>A)
c.*2610C>A (n.*2610C>A)
c.*2492+67C>A (n.*2492+67C>A)
c.3493C>A (p.Leu1165Met)
c.3370C>A (p.Leu1124Met)
c.3316C>A (p.Leu1106Met)
c.3136C>A (p.Leu1046Met)
c.3085C>A (p.Leu1029Met)
c.3763C>A (p.Leu1255Met)
c.3412C>A (p.Leu1138Met)
c.3712C>A (p.Leu1238Met)
2g.120989425C>GCA348174504GLI2c.3460C>G (p.Leu1154Val)
c.3511C>G (p.Leu1171Val)
c.*2559C>G (n.*2559C>G)
c.*2543+67C>G (n.*2543+67C>G)
c.*2610C>G (n.*2610C>G)
c.*2492+67C>G (n.*2492+67C>G)
c.3493C>G (p.Leu1165Val)
c.3370C>G (p.Leu1124Val)
c.3316C>G (p.Leu1106Val)
c.3136C>G (p.Leu1046Val)
c.3085C>G (p.Leu1029Val)
c.3763C>G (p.Leu1255Val)
c.3412C>G (p.Leu1138Val)
c.3712C>G (p.Leu1238Val)
2g.120989425C>TCA428749966GLI2c.3460C>T (p.Leu1154=)
c.3511C>T (p.Leu1171=)
c.*2559C>T (n.*2559C>T)
c.*2543+67C>T (n.*2543+67C>T)
c.*2610C>T (n.*2610C>T)
c.*2492+67C>T (n.*2492+67C>T)
c.3493C>T (p.Leu1165=)
c.3370C>T (p.Leu1124=)
c.3316C>T (p.Leu1106=)
c.3136C>T (p.Leu1046=)
c.3085C>T (p.Leu1029=)
c.3763C>T (p.Leu1255=)
c.3412C>T (p.Leu1138=)
c.3712C>T (p.Leu1238=)
 gnomAD v4
2g.120989426T>ACA348174506GLI2c.3461T>A (p.Leu1154Gln)
c.3512T>A (p.Leu1171Gln)
c.*2560T>A (n.*2560T>A)
c.*2543+68T>A (n.*2543+68T>A)
c.*2611T>A (n.*2611T>A)
c.*2492+68T>A (n.*2492+68T>A)
c.3494T>A (p.Leu1165Gln)
c.3371T>A (p.Leu1124Gln)
c.3317T>A (p.Leu1106Gln)
c.3137T>A (p.Leu1046Gln)
c.3086T>A (p.Leu1029Gln)
c.3764T>A (p.Leu1255Gln)
c.3413T>A (p.Leu1138Gln)
c.3713T>A (p.Leu1238Gln)
2g.120989426T>CCA348174508GLI2c.3461T>C (p.Leu1154Pro)
c.3512T>C (p.Leu1171Pro)
c.*2560T>C (n.*2560T>C)
c.*2543+68T>C (n.*2543+68T>C)
c.*2611T>C (n.*2611T>C)
c.*2492+68T>C (n.*2492+68T>C)
c.3494T>C (p.Leu1165Pro)
c.3371T>C (p.Leu1124Pro)
c.3317T>C (p.Leu1106Pro)
c.3137T>C (p.Leu1046Pro)
c.3086T>C (p.Leu1029Pro)
c.3764T>C (p.Leu1255Pro)
c.3413T>C (p.Leu1138Pro)
c.3713T>C (p.Leu1238Pro)
2g.120989426T>GCA348174507GLI2c.3461T>G (p.Leu1154Arg)
c.3512T>G (p.Leu1171Arg)
c.*2560T>G (n.*2560T>G)
c.*2543+68T>G (n.*2543+68T>G)
c.*2611T>G (n.*2611T>G)
c.*2492+68T>G (n.*2492+68T>G)
c.3494T>G (p.Leu1165Arg)
c.3371T>G (p.Leu1124Arg)
c.3317T>G (p.Leu1106Arg)
c.3137T>G (p.Leu1046Arg)
c.3086T>G (p.Leu1029Arg)
c.3764T>G (p.Leu1255Arg)
c.3413T>G (p.Leu1138Arg)
c.3713T>G (p.Leu1238Arg)
2g.120989427G>ACA428749967GLI2c.3462G>A (p.Leu1154=)
c.3513G>A (p.Leu1171=)
c.*2561G>A (n.*2561G>A)
c.*2543+69G>A (n.*2543+69G>A)
c.*2612G>A (n.*2612G>A)
c.*2492+69G>A (n.*2492+69G>A)
c.3495G>A (p.Leu1165=)
c.3372G>A (p.Leu1124=)
c.3318G>A (p.Leu1106=)
c.3138G>A (p.Leu1046=)
c.3087G>A (p.Leu1029=)
c.3765G>A (p.Leu1255=)
c.3414G>A (p.Leu1138=)
c.3714G>A (p.Leu1238=)
2g.120989427G>CCA428749969GLI2c.3462G>C (p.Leu1154=)
c.3513G>C (p.Leu1171=)
c.*2561G>C (n.*2561G>C)
c.*2543+69G>C (n.*2543+69G>C)
c.*2612G>C (n.*2612G>C)
c.*2492+69G>C (n.*2492+69G>C)
c.3495G>C (p.Leu1165=)
c.3372G>C (p.Leu1124=)
c.3318G>C (p.Leu1106=)
c.3138G>C (p.Leu1046=)
c.3087G>C (p.Leu1029=)
c.3765G>C (p.Leu1255=)
c.3414G>C (p.Leu1138=)
c.3714G>C (p.Leu1238=)
 COSMIC
2g.120989427G>TCA428749968GLI2c.3462G>T (p.Leu1154=)
c.3513G>T (p.Leu1171=)
c.*2561G>T (n.*2561G>T)
c.*2543+69G>T (n.*2543+69G>T)
c.*2612G>T (n.*2612G>T)
c.*2492+69G>T (n.*2492+69G>T)
c.3495G>T (p.Leu1165=)
c.3372G>T (p.Leu1124=)
c.3318G>T (p.Leu1106=)
c.3138G>T (p.Leu1046=)
c.3087G>T (p.Leu1029=)
c.3765G>T (p.Leu1255=)
c.3414G>T (p.Leu1138=)
c.3714G>T (p.Leu1238=)
2g.120989428G>ACA348174510GLI2c.3463G>A (p.Ala1155Thr)
c.3514G>A (p.Ala1172Thr)
c.*2562G>A (n.*2562G>A)
c.*2543+70G>A (n.*2543+70G>A)
c.*2613G>A (n.*2613G>A)
c.*2492+70G>A (n.*2492+70G>A)
c.3496G>A (p.Ala1166Thr)
c.3373G>A (p.Ala1125Thr)
c.3319G>A (p.Ala1107Thr)
c.3139G>A (p.Ala1047Thr)
c.3088G>A (p.Ala1030Thr)
c.3766G>A (p.Ala1256Thr)
c.3415G>A (p.Ala1139Thr)
c.3715G>A (p.Ala1239Thr)
 gnomAD v4
2g.120989428G>CCA348174512GLI2c.3463G>C (p.Ala1155Pro)
c.3514G>C (p.Ala1172Pro)
c.*2562G>C (n.*2562G>C)
c.*2543+70G>C (n.*2543+70G>C)
c.*2613G>C (n.*2613G>C)
c.*2492+70G>C (n.*2492+70G>C)
c.3496G>C (p.Ala1166Pro)
c.3373G>C (p.Ala1125Pro)
c.3319G>C (p.Ala1107Pro)
c.3139G>C (p.Ala1047Pro)
c.3088G>C (p.Ala1030Pro)
c.3766G>C (p.Ala1256Pro)
c.3415G>C (p.Ala1139Pro)
c.3715G>C (p.Ala1239Pro)
2g.120989428G>TCA348174515GLI2c.3463G>T (p.Ala1155Ser)
c.3514G>T (p.Ala1172Ser)
c.*2562G>T (n.*2562G>T)
c.*2543+70G>T (n.*2543+70G>T)
c.*2613G>T (n.*2613G>T)
c.*2492+70G>T (n.*2492+70G>T)
c.3496G>T (p.Ala1166Ser)
c.3373G>T (p.Ala1125Ser)
c.3319G>T (p.Ala1107Ser)
c.3139G>T (p.Ala1047Ser)
c.3088G>T (p.Ala1030Ser)
c.3766G>T (p.Ala1256Ser)
c.3415G>T (p.Ala1139Ser)
c.3715G>T (p.Ala1239Ser)
2g.120989429C>ACA348174518GLI2c.3464C>A (p.Ala1155Glu)
c.3515C>A (p.Ala1172Glu)
c.*2563C>A (n.*2563C>A)
c.*2543+71C>A (n.*2543+71C>A)
c.*2614C>A (n.*2614C>A)
c.*2492+71C>A (n.*2492+71C>A)
c.3497C>A (p.Ala1166Glu)
c.3374C>A (p.Ala1125Glu)
c.3320C>A (p.Ala1107Glu)
c.3140C>A (p.Ala1047Glu)
c.3089C>A (p.Ala1030Glu)
c.3767C>A (p.Ala1256Glu)
c.3416C>A (p.Ala1139Glu)
c.3716C>A (p.Ala1239Glu)
 dbSNP gnomAD v4
2g.120989429C=CA1283795634GLI2c.3464C= (p.Ala1155=)
c.3515C= (p.Ala1172=)
c.*2563C= (n.*2563C=)
c.*2543+71C= (n.*2543+71C=)
c.*2614C= (n.*2614C=)
c.*2492+71C= (n.*2492+71C=)
c.3497C= (p.Ala1166=)
c.3374C= (p.Ala1125=)
c.3320C= (p.Ala1107=)
c.3140C= (p.Ala1047=)
c.3089C= (p.Ala1030=)
c.3767C= (p.Ala1256=)
c.3416C= (p.Ala1139=)
c.3716C= (p.Ala1239=)
2g.120989429C>GCA348174521GLI2c.3464C>G (p.Ala1155Gly)
c.3515C>G (p.Ala1172Gly)
c.*2563C>G (n.*2563C>G)
c.*2543+71C>G (n.*2543+71C>G)
c.*2614C>G (n.*2614C>G)
c.*2492+71C>G (n.*2492+71C>G)
c.3497C>G (p.Ala1166Gly)
c.3374C>G (p.Ala1125Gly)
c.3320C>G (p.Ala1107Gly)
c.3140C>G (p.Ala1047Gly)
c.3089C>G (p.Ala1030Gly)
c.3767C>G (p.Ala1256Gly)
c.3416C>G (p.Ala1139Gly)
c.3716C>G (p.Ala1239Gly)
 gnomAD v4
2g.120989429C>TCA1852406GLI2c.3464C>T (p.Ala1155Val)
c.3515C>T (p.Ala1172Val)
c.*2563C>T (n.*2563C>T)
c.*2543+71C>T (n.*2543+71C>T)
c.*2614C>T (n.*2614C>T)
c.*2492+71C>T (n.*2492+71C>T)
c.3497C>T (p.Ala1166Val)
c.3374C>T (p.Ala1125Val)
c.3320C>T (p.Ala1107Val)
c.3140C>T (p.Ala1047Val)
c.3089C>T (p.Ala1030Val)
c.3767C>T (p.Ala1256Val)
c.3416C>T (p.Ala1139Val)
c.3716C>T (p.Ala1239Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.120989430G>ACA1852407GLI2c.3465G>A (p.Ala1155=)
c.3516G>A (p.Ala1172=)
c.*2564G>A (n.*2564G>A)
c.*2543+72G>A (n.*2543+72G>A)
c.*2615G>A (n.*2615G>A)
c.*2492+72G>A (n.*2492+72G>A)
c.3498G>A (p.Ala1166=)
c.3375G>A (p.Ala1125=)
c.3321G>A (p.Ala1107=)
c.3141G>A (p.Ala1047=)
c.3090G>A (p.Ala1030=)
c.3768G>A (p.Ala1256=)
c.3417G>A (p.Ala1139=)
c.3717G>A (p.Ala1239=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989430G>CCA1852408GLI2c.3465G>C (p.Ala1155=)
c.3516G>C (p.Ala1172=)
c.*2564G>C (n.*2564G>C)
c.*2543+72G>C (n.*2543+72G>C)
c.*2615G>C (n.*2615G>C)
c.*2492+72G>C (n.*2492+72G>C)
c.3498G>C (p.Ala1166=)
c.3375G>C (p.Ala1125=)
c.3321G>C (p.Ala1107=)
c.3141G>C (p.Ala1047=)
c.3090G>C (p.Ala1030=)
c.3768G>C (p.Ala1256=)
c.3417G>C (p.Ala1139=)
c.3717G>C (p.Ala1239=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989430G=CA1283795635GLI2c.3465G= (p.Ala1155=)
c.3516G= (p.Ala1172=)
c.*2564G= (n.*2564G=)
c.*2543+72G= (n.*2543+72G=)
c.*2615G= (n.*2615G=)
c.*2492+72G= (n.*2492+72G=)
c.3498G= (p.Ala1166=)
c.3375G= (p.Ala1125=)
c.3321G= (p.Ala1107=)
c.3141G= (p.Ala1047=)
c.3090G= (p.Ala1030=)
c.3768G= (p.Ala1256=)
c.3417G= (p.Ala1139=)
c.3717G= (p.Ala1239=)
2g.120989430G>TCA428749970GLI2c.3465G>T (p.Ala1155=)
c.3516G>T (p.Ala1172=)
c.*2564G>T (n.*2564G>T)
c.*2543+72G>T (n.*2543+72G>T)
c.*2615G>T (n.*2615G>T)
c.*2492+72G>T (n.*2492+72G>T)
c.3498G>T (p.Ala1166=)
c.3375G>T (p.Ala1125=)
c.3321G>T (p.Ala1107=)
c.3141G>T (p.Ala1047=)
c.3090G>T (p.Ala1030=)
c.3768G>T (p.Ala1256=)
c.3417G>T (p.Ala1139=)
c.3717G>T (p.Ala1239=)
 COSMIC
2g.120989431G>ACA348174534GLI2c.3466G>A (p.Val1156Met)
c.3517G>A (p.Val1173Met)
c.*2565G>A (n.*2565G>A)
c.*2543+73G>A (n.*2543+73G>A)
c.*2616G>A (n.*2616G>A)
c.*2492+73G>A (n.*2492+73G>A)
c.3499G>A (p.Val1167Met)
c.3376G>A (p.Val1126Met)
c.3322G>A (p.Val1108Met)
c.3142G>A (p.Val1048Met)
c.3091G>A (p.Val1031Met)
c.3769G>A (p.Val1257Met)
c.3418G>A (p.Val1140Met)
c.3718G>A (p.Val1240Met)
 dbSNP gnomAD v4
2g.120989431G>CCA348174537GLI2c.3466G>C (p.Val1156Leu)
c.3517G>C (p.Val1173Leu)
c.*2565G>C (n.*2565G>C)
c.*2543+73G>C (n.*2543+73G>C)
c.*2616G>C (n.*2616G>C)
c.*2492+73G>C (n.*2492+73G>C)
c.3499G>C (p.Val1167Leu)
c.3376G>C (p.Val1126Leu)
c.3322G>C (p.Val1108Leu)
c.3142G>C (p.Val1048Leu)
c.3091G>C (p.Val1031Leu)
c.3769G>C (p.Val1257Leu)
c.3418G>C (p.Val1140Leu)
c.3718G>C (p.Val1240Leu)
2g.120989431G=CA1283795636GLI2c.3466G= (p.Val1156=)
c.3517G= (p.Val1173=)
c.*2565G= (n.*2565G=)
c.*2543+73G= (n.*2543+73G=)
c.*2616G= (n.*2616G=)
c.*2492+73G= (n.*2492+73G=)
c.3499G= (p.Val1167=)
c.3376G= (p.Val1126=)
c.3322G= (p.Val1108=)
c.3142G= (p.Val1048=)
c.3091G= (p.Val1031=)
c.3769G= (p.Val1257=)
c.3418G= (p.Val1140=)
c.3718G= (p.Val1240=)
2g.120989431G>TCA1852409GLI2c.3466G>T (p.Val1156Leu)
c.3517G>T (p.Val1173Leu)
c.*2565G>T (n.*2565G>T)
c.*2543+73G>T (n.*2543+73G>T)
c.*2616G>T (n.*2616G>T)
c.*2492+73G>T (n.*2492+73G>T)
c.3499G>T (p.Val1167Leu)
c.3376G>T (p.Val1126Leu)
c.3322G>T (p.Val1108Leu)
c.3142G>T (p.Val1048Leu)
c.3091G>T (p.Val1031Leu)
c.3769G>T (p.Val1257Leu)
c.3418G>T (p.Val1140Leu)
c.3718G>T (p.Val1240Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989432T>ACA348174550GLI2c.3467T>A (p.Val1156Glu)
c.3518T>A (p.Val1173Glu)
c.*2566T>A (n.*2566T>A)
c.*2543+74T>A (n.*2543+74T>A)
c.*2617T>A (n.*2617T>A)
c.*2492+74T>A (n.*2492+74T>A)
c.3500T>A (p.Val1167Glu)
c.3377T>A (p.Val1126Glu)
c.3323T>A (p.Val1108Glu)
c.3143T>A (p.Val1048Glu)
c.3092T>A (p.Val1031Glu)
c.3770T>A (p.Val1257Glu)
c.3419T>A (p.Val1140Glu)
c.3719T>A (p.Val1240Glu)
2g.120989432T>CCA348174545GLI2c.3467T>C (p.Val1156Ala)
c.3518T>C (p.Val1173Ala)
c.*2566T>C (n.*2566T>C)
c.*2543+74T>C (n.*2543+74T>C)
c.*2617T>C (n.*2617T>C)
c.*2492+74T>C (n.*2492+74T>C)
c.3500T>C (p.Val1167Ala)
c.3377T>C (p.Val1126Ala)
c.3323T>C (p.Val1108Ala)
c.3143T>C (p.Val1048Ala)
c.3092T>C (p.Val1031Ala)
c.3770T>C (p.Val1257Ala)
c.3419T>C (p.Val1140Ala)
c.3719T>C (p.Val1240Ala)
2g.120989432T>GCA348174543GLI2c.3467T>G (p.Val1156Gly)
c.3518T>G (p.Val1173Gly)
c.*2566T>G (n.*2566T>G)
c.*2543+74T>G (n.*2543+74T>G)
c.*2617T>G (n.*2617T>G)
c.*2492+74T>G (n.*2492+74T>G)
c.3500T>G (p.Val1167Gly)
c.3377T>G (p.Val1126Gly)
c.3323T>G (p.Val1108Gly)
c.3143T>G (p.Val1048Gly)
c.3092T>G (p.Val1031Gly)
c.3770T>G (p.Val1257Gly)
c.3419T>G (p.Val1140Gly)
c.3719T>G (p.Val1240Gly)
2g.120989433G>ACA428749971GLI2c.3468G>A (p.Val1156=)
c.3519G>A (p.Val1173=)
c.*2567G>A (n.*2567G>A)
c.*2543+75G>A (n.*2543+75G>A)
c.*2618G>A (n.*2618G>A)
c.*2492+75G>A (n.*2492+75G>A)
c.3501G>A (p.Val1167=)
c.3378G>A (p.Val1126=)
c.3324G>A (p.Val1108=)
c.3144G>A (p.Val1048=)
c.3093G>A (p.Val1031=)
c.3771G>A (p.Val1257=)
c.3420G>A (p.Val1140=)
c.3720G>A (p.Val1240=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989433G>CCA428749972GLI2c.3468G>C (p.Val1156=)
c.3519G>C (p.Val1173=)
c.*2567G>C (n.*2567G>C)
c.*2543+75G>C (n.*2543+75G>C)
c.*2618G>C (n.*2618G>C)
c.*2492+75G>C (n.*2492+75G>C)
c.3501G>C (p.Val1167=)
c.3378G>C (p.Val1126=)
c.3324G>C (p.Val1108=)
c.3144G>C (p.Val1048=)
c.3093G>C (p.Val1031=)
c.3771G>C (p.Val1257=)
c.3420G>C (p.Val1140=)
c.3720G>C (p.Val1240=)
2g.120989433G=CA1283795637GLI2c.3468G= (p.Val1156=)
c.3519G= (p.Val1173=)
c.*2567G= (n.*2567G=)
c.*2543+75G= (n.*2543+75G=)
c.*2618G= (n.*2618G=)
c.*2492+75G= (n.*2492+75G=)
c.3501G= (p.Val1167=)
c.3378G= (p.Val1126=)
c.3324G= (p.Val1108=)
c.3144G= (p.Val1048=)
c.3093G= (p.Val1031=)
c.3771G= (p.Val1257=)
c.3420G= (p.Val1140=)
c.3720G= (p.Val1240=)
2g.120989433G>TCA1852410GLI2c.3468G>T (p.Val1156=)
c.3519G>T (p.Val1173=)
c.*2567G>T (n.*2567G>T)
c.*2543+75G>T (n.*2543+75G>T)
c.*2618G>T (n.*2618G>T)
c.*2492+75G>T (n.*2492+75G>T)
c.3501G>T (p.Val1167=)
c.3378G>T (p.Val1126=)
c.3324G>T (p.Val1108=)
c.3144G>T (p.Val1048=)
c.3093G>T (p.Val1031=)
c.3771G>T (p.Val1257=)
c.3420G>T (p.Val1140=)
c.3720G>T (p.Val1240=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989434G>ACA348174557GLI2c.3469G>A (p.Val1157Met)
c.3520G>A (p.Val1174Met)
c.*2568G>A (n.*2568G>A)
c.*2543+76G>A (n.*2543+76G>A)
c.*2619G>A (n.*2619G>A)
c.*2492+76G>A (n.*2492+76G>A)
c.3502G>A (p.Val1168Met)
c.3379G>A (p.Val1127Met)
c.3325G>A (p.Val1109Met)
c.3145G>A (p.Val1049Met)
c.3094G>A (p.Val1032Met)
c.3772G>A (p.Val1258Met)
c.3421G>A (p.Val1141Met)
c.3721G>A (p.Val1241Met)
 gnomAD v4
2g.120989434G>CCA348174559GLI2c.3469G>C (p.Val1157Leu)
c.3520G>C (p.Val1174Leu)
c.*2568G>C (n.*2568G>C)
c.*2543+76G>C (n.*2543+76G>C)
c.*2619G>C (n.*2619G>C)
c.*2492+76G>C (n.*2492+76G>C)
c.3502G>C (p.Val1168Leu)
c.3379G>C (p.Val1127Leu)
c.3325G>C (p.Val1109Leu)
c.3145G>C (p.Val1049Leu)
c.3094G>C (p.Val1032Leu)
c.3772G>C (p.Val1258Leu)
c.3421G>C (p.Val1141Leu)
c.3721G>C (p.Val1241Leu)
2g.120989434G>TCA348174560GLI2c.3469G>T (p.Val1157Leu)
c.3520G>T (p.Val1174Leu)
c.*2568G>T (n.*2568G>T)
c.*2543+76G>T (n.*2543+76G>T)
c.*2619G>T (n.*2619G>T)
c.*2492+76G>T (n.*2492+76G>T)
c.3502G>T (p.Val1168Leu)
c.3379G>T (p.Val1127Leu)
c.3325G>T (p.Val1109Leu)
c.3145G>T (p.Val1049Leu)
c.3094G>T (p.Val1032Leu)
c.3772G>T (p.Val1258Leu)
c.3421G>T (p.Val1141Leu)
c.3721G>T (p.Val1241Leu)
2g.120989435T>ACA348174563GLI2c.3470T>A (p.Val1157Glu)
c.3521T>A (p.Val1174Glu)
c.*2569T>A (n.*2569T>A)
c.*2543+77T>A (n.*2543+77T>A)
c.*2620T>A (n.*2620T>A)
c.*2492+77T>A (n.*2492+77T>A)
c.3503T>A (p.Val1168Glu)
c.3380T>A (p.Val1127Glu)
c.3326T>A (p.Val1109Glu)
c.3146T>A (p.Val1049Glu)
c.3095T>A (p.Val1032Glu)
c.3773T>A (p.Val1258Glu)
c.3422T>A (p.Val1141Glu)
c.3722T>A (p.Val1241Glu)
2g.120989435T>CCA348174567GLI2c.3470T>C (p.Val1157Ala)
c.3521T>C (p.Val1174Ala)
c.*2569T>C (n.*2569T>C)
c.*2543+77T>C (n.*2543+77T>C)
c.*2620T>C (n.*2620T>C)
c.*2492+77T>C (n.*2492+77T>C)
c.3503T>C (p.Val1168Ala)
c.3380T>C (p.Val1127Ala)
c.3326T>C (p.Val1109Ala)
c.3146T>C (p.Val1049Ala)
c.3095T>C (p.Val1032Ala)
c.3773T>C (p.Val1258Ala)
c.3422T>C (p.Val1141Ala)
c.3722T>C (p.Val1241Ala)
 gnomAD v4
2g.120989435T>GCA348174575GLI2c.3470T>G (p.Val1157Gly)
c.3521T>G (p.Val1174Gly)
c.*2569T>G (n.*2569T>G)
c.*2543+77T>G (n.*2543+77T>G)
c.*2620T>G (n.*2620T>G)
c.*2492+77T>G (n.*2492+77T>G)
c.3503T>G (p.Val1168Gly)
c.3380T>G (p.Val1127Gly)
c.3326T>G (p.Val1109Gly)
c.3146T>G (p.Val1049Gly)
c.3095T>G (p.Val1032Gly)
c.3773T>G (p.Val1258Gly)
c.3422T>G (p.Val1141Gly)
c.3722T>G (p.Val1241Gly)
 dbSNP
2g.120989435T=CA1283795638GLI2c.3470T= (p.Val1157=)
c.3521T= (p.Val1174=)
c.*2569T= (n.*2569T=)
c.*2543+77T= (n.*2543+77T=)
c.*2620T= (n.*2620T=)
c.*2492+77T= (n.*2492+77T=)
c.3503T= (p.Val1168=)
c.3380T= (p.Val1127=)
c.3326T= (p.Val1109=)
c.3146T= (p.Val1049=)
c.3095T= (p.Val1032=)
c.3773T= (p.Val1258=)
c.3422T= (p.Val1141=)
c.3722T= (p.Val1241=)
2g.120989436G>ACA428749973GLI2c.3471G>A (p.Val1157=)
c.3522G>A (p.Val1174=)
c.*2570G>A (n.*2570G>A)
c.*2543+78G>A (n.*2543+78G>A)
c.*2621G>A (n.*2621G>A)
c.*2492+78G>A (n.*2492+78G>A)
c.3504G>A (p.Val1168=)
c.3381G>A (p.Val1127=)
c.3327G>A (p.Val1109=)
c.3147G>A (p.Val1049=)
c.3096G>A (p.Val1032=)
c.3774G>A (p.Val1258=)
c.3423G>A (p.Val1141=)
c.3723G>A (p.Val1241=)
2g.120989436G>CCA428749974GLI2c.3471G>C (p.Val1157=)
c.3522G>C (p.Val1174=)
c.*2570G>C (n.*2570G>C)
c.*2543+78G>C (n.*2543+78G>C)
c.*2621G>C (n.*2621G>C)
c.*2492+78G>C (n.*2492+78G>C)
c.3504G>C (p.Val1168=)
c.3381G>C (p.Val1127=)
c.3327G>C (p.Val1109=)
c.3147G>C (p.Val1049=)
c.3096G>C (p.Val1032=)
c.3774G>C (p.Val1258=)
c.3423G>C (p.Val1141=)
c.3723G>C (p.Val1241=)
2g.120989436G>TCA428749975GLI2c.3471G>T (p.Val1157=)
c.3522G>T (p.Val1174=)
c.*2570G>T (n.*2570G>T)
c.*2543+78G>T (n.*2543+78G>T)
c.*2621G>T (n.*2621G>T)
c.*2492+78G>T (n.*2492+78G>T)
c.3504G>T (p.Val1168=)
c.3381G>T (p.Val1127=)
c.3327G>T (p.Val1109=)
c.3147G>T (p.Val1049=)
c.3096G>T (p.Val1032=)
c.3774G>T (p.Val1258=)
c.3423G>T (p.Val1141=)
c.3723G>T (p.Val1241=)
2g.120989437C>ACA348174578GLI2c.3472C>A (p.Gln1158Lys)
c.3523C>A (p.Gln1175Lys)
c.*2571C>A (n.*2571C>A)
c.*2543+79C>A (n.*2543+79C>A)
c.*2622C>A (n.*2622C>A)
c.*2492+79C>A (n.*2492+79C>A)
c.3505C>A (p.Gln1169Lys)
c.3382C>A (p.Gln1128Lys)
c.3328C>A (p.Gln1110Lys)
c.3148C>A (p.Gln1050Lys)
c.3097C>A (p.Gln1033Lys)
c.3775C>A (p.Gln1259Lys)
c.3424C>A (p.Gln1142Lys)
c.3724C>A (p.Gln1242Lys)
2g.120989437C>GCA348174581GLI2c.3472C>G (p.Gln1158Glu)
c.3523C>G (p.Gln1175Glu)
c.*2571C>G (n.*2571C>G)
c.*2543+79C>G (n.*2543+79C>G)
c.*2622C>G (n.*2622C>G)
c.*2492+79C>G (n.*2492+79C>G)
c.3505C>G (p.Gln1169Glu)
c.3382C>G (p.Gln1128Glu)
c.3328C>G (p.Gln1110Glu)
c.3148C>G (p.Gln1050Glu)
c.3097C>G (p.Gln1033Glu)
c.3775C>G (p.Gln1259Glu)
c.3424C>G (p.Gln1142Glu)
c.3724C>G (p.Gln1242Glu)
 gnomAD v4
2g.120989437C>TCA348174584GLI2c.3472C>T (p.Gln1158Ter)
c.3523C>T (p.Gln1175Ter)
c.*2571C>T (n.*2571C>T)
c.*2543+79C>T (n.*2543+79C>T)
c.*2622C>T (n.*2622C>T)
c.*2492+79C>T (n.*2492+79C>T)
c.3505C>T (p.Gln1169Ter)
c.3382C>T (p.Gln1128Ter)
c.3328C>T (p.Gln1110Ter)
c.3148C>T (p.Gln1050Ter)
c.3097C>T (p.Gln1033Ter)
c.3775C>T (p.Gln1259Ter)
c.3424C>T (p.Gln1142Ter)
c.3724C>T (p.Gln1242Ter)
 gnomAD v4
2g.120989438A>CCA348174589GLI2c.3473A>C (p.Gln1158Pro)
c.3524A>C (p.Gln1175Pro)
c.*2572A>C (n.*2572A>C)
c.*2543+80A>C (n.*2543+80A>C)
c.*2623A>C (n.*2623A>C)
c.*2492+80A>C (n.*2492+80A>C)
c.3506A>C (p.Gln1169Pro)
c.3383A>C (p.Gln1128Pro)
c.3329A>C (p.Gln1110Pro)
c.3149A>C (p.Gln1050Pro)
c.3098A>C (p.Gln1033Pro)
c.3776A>C (p.Gln1259Pro)
c.3425A>C (p.Gln1142Pro)
c.3725A>C (p.Gln1242Pro)
2g.120989438A>GCA348174592GLI2c.3473A>G (p.Gln1158Arg)
c.3524A>G (p.Gln1175Arg)
c.*2572A>G (n.*2572A>G)
c.*2543+80A>G (n.*2543+80A>G)
c.*2623A>G (n.*2623A>G)
c.*2492+80A>G (n.*2492+80A>G)
c.3506A>G (p.Gln1169Arg)
c.3383A>G (p.Gln1128Arg)
c.3329A>G (p.Gln1110Arg)
c.3149A>G (p.Gln1050Arg)
c.3098A>G (p.Gln1033Arg)
c.3776A>G (p.Gln1259Arg)
c.3425A>G (p.Gln1142Arg)
c.3725A>G (p.Gln1242Arg)
 gnomAD v4
2g.120989438A>TCA348174595GLI2c.3473A>T (p.Gln1158Leu)
c.3524A>T (p.Gln1175Leu)
c.*2572A>T (n.*2572A>T)
c.*2543+80A>T (n.*2543+80A>T)
c.*2623A>T (n.*2623A>T)
c.*2492+80A>T (n.*2492+80A>T)
c.3506A>T (p.Gln1169Leu)
c.3383A>T (p.Gln1128Leu)
c.3329A>T (p.Gln1110Leu)
c.3149A>T (p.Gln1050Leu)
c.3098A>T (p.Gln1033Leu)
c.3776A>T (p.Gln1259Leu)
c.3425A>T (p.Gln1142Leu)
c.3725A>T (p.Gln1242Leu)
2g.120989439G>ACA428749976GLI2c.3474G>A (p.Gln1158=)
c.3525G>A (p.Gln1175=)
c.*2573G>A (n.*2573G>A)
c.*2543+81G>A (n.*2543+81G>A)
c.*2624G>A (n.*2624G>A)
c.*2492+81G>A (n.*2492+81G>A)
c.3507G>A (p.Gln1169=)
c.3384G>A (p.Gln1128=)
c.3330G>A (p.Gln1110=)
c.3150G>A (p.Gln1050=)
c.3099G>A (p.Gln1033=)
c.3777G>A (p.Gln1259=)
c.3426G>A (p.Gln1142=)
c.3726G>A (p.Gln1242=)
2g.120989439G>CCA348174596GLI2c.3474G>C (p.Gln1158His)
c.3525G>C (p.Gln1175His)
c.*2573G>C (n.*2573G>C)
c.*2543+81G>C (n.*2543+81G>C)
c.*2624G>C (n.*2624G>C)
c.*2492+81G>C (n.*2492+81G>C)
c.3507G>C (p.Gln1169His)
c.3384G>C (p.Gln1128His)
c.3330G>C (p.Gln1110His)
c.3150G>C (p.Gln1050His)
c.3099G>C (p.Gln1033His)
c.3777G>C (p.Gln1259His)
c.3426G>C (p.Gln1142His)
c.3726G>C (p.Gln1242His)
2g.120989439G>TCA348174597GLI2c.3474G>T (p.Gln1158His)
c.3525G>T (p.Gln1175His)
c.*2573G>T (n.*2573G>T)
c.*2543+81G>T (n.*2543+81G>T)
c.*2624G>T (n.*2624G>T)
c.*2492+81G>T (n.*2492+81G>T)
c.3507G>T (p.Gln1169His)
c.3384G>T (p.Gln1128His)
c.3330G>T (p.Gln1110His)
c.3150G>T (p.Gln1050His)
c.3099G>T (p.Gln1033His)
c.3777G>T (p.Gln1259His)
c.3426G>T (p.Gln1142His)
c.3726G>T (p.Gln1242His)
2g.120989440C>ACA348174598GLI2c.3475C>A (p.Gln1159Lys)
c.3526C>A (p.Gln1176Lys)
c.*2574C>A (n.*2574C>A)
c.*2543+82C>A (n.*2543+82C>A)
c.*2625C>A (n.*2625C>A)
c.*2492+82C>A (n.*2492+82C>A)
c.3508C>A (p.Gln1170Lys)
c.3385C>A (p.Gln1129Lys)
c.3331C>A (p.Gln1111Lys)
c.3151C>A (p.Gln1051Lys)
c.3100C>A (p.Gln1034Lys)
c.3778C>A (p.Gln1260Lys)
c.3427C>A (p.Gln1143Lys)
c.3727C>A (p.Gln1243Lys)
2g.120989440C>GCA348174600GLI2c.3475C>G (p.Gln1159Glu)
c.3526C>G (p.Gln1176Glu)
c.*2574C>G (n.*2574C>G)
c.*2543+82C>G (n.*2543+82C>G)
c.*2625C>G (n.*2625C>G)
c.*2492+82C>G (n.*2492+82C>G)
c.3508C>G (p.Gln1170Glu)
c.3385C>G (p.Gln1129Glu)
c.3331C>G (p.Gln1111Glu)
c.3151C>G (p.Gln1051Glu)
c.3100C>G (p.Gln1034Glu)
c.3778C>G (p.Gln1260Glu)
c.3427C>G (p.Gln1143Glu)
c.3727C>G (p.Gln1243Glu)
2g.120989440C>TCA348174602GLI2c.3475C>T (p.Gln1159Ter)
c.3526C>T (p.Gln1176Ter)
c.*2574C>T (n.*2574C>T)
c.*2543+82C>T (n.*2543+82C>T)
c.*2625C>T (n.*2625C>T)
c.*2492+82C>T (n.*2492+82C>T)
c.3508C>T (p.Gln1170Ter)
c.3385C>T (p.Gln1129Ter)
c.3331C>T (p.Gln1111Ter)
c.3151C>T (p.Gln1051Ter)
c.3100C>T (p.Gln1034Ter)
c.3778C>T (p.Gln1260Ter)
c.3427C>T (p.Gln1143Ter)
c.3727C>T (p.Gln1243Ter)
2g.120989441A>CCA348174605GLI2c.3476A>C (p.Gln1159Pro)
c.3527A>C (p.Gln1176Pro)
c.*2575A>C (n.*2575A>C)
c.*2543+83A>C (n.*2543+83A>C)
c.*2626A>C (n.*2626A>C)
c.*2492+83A>C (n.*2492+83A>C)
c.3509A>C (p.Gln1170Pro)
c.3386A>C (p.Gln1129Pro)
c.3332A>C (p.Gln1111Pro)
c.3152A>C (p.Gln1051Pro)
c.3101A>C (p.Gln1034Pro)
c.3779A>C (p.Gln1260Pro)
c.3428A>C (p.Gln1143Pro)
c.3728A>C (p.Gln1243Pro)
2g.120989441A>GCA348174606GLI2c.3476A>G (p.Gln1159Arg)
c.3527A>G (p.Gln1176Arg)
c.*2575A>G (n.*2575A>G)
c.*2543+83A>G (n.*2543+83A>G)
c.*2626A>G (n.*2626A>G)
c.*2492+83A>G (n.*2492+83A>G)
c.3509A>G (p.Gln1170Arg)
c.3386A>G (p.Gln1129Arg)
c.3332A>G (p.Gln1111Arg)
c.3152A>G (p.Gln1051Arg)
c.3101A>G (p.Gln1034Arg)
c.3779A>G (p.Gln1260Arg)
c.3428A>G (p.Gln1143Arg)
c.3728A>G (p.Gln1243Arg)
2g.120989441A>TCA348174611GLI2c.3476A>T (p.Gln1159Leu)
c.3527A>T (p.Gln1176Leu)
c.*2575A>T (n.*2575A>T)
c.*2543+83A>T (n.*2543+83A>T)
c.*2626A>T (n.*2626A>T)
c.*2492+83A>T (n.*2492+83A>T)
c.3509A>T (p.Gln1170Leu)
c.3386A>T (p.Gln1129Leu)
c.3332A>T (p.Gln1111Leu)
c.3152A>T (p.Gln1051Leu)
c.3101A>T (p.Gln1034Leu)
c.3779A>T (p.Gln1260Leu)
c.3428A>T (p.Gln1143Leu)
c.3728A>T (p.Gln1243Leu)
2g.120989442G>ACA428749977GLI2c.3477G>A (p.Gln1159=)
c.3528G>A (p.Gln1176=)
c.*2576G>A (n.*2576G>A)
c.*2543+84G>A (n.*2543+84G>A)
c.*2627G>A (n.*2627G>A)
c.*2492+84G>A (n.*2492+84G>A)
c.3510G>A (p.Gln1170=)
c.3387G>A (p.Gln1129=)
c.3333G>A (p.Gln1111=)
c.3153G>A (p.Gln1051=)
c.3102G>A (p.Gln1034=)
c.3780G>A (p.Gln1260=)
c.3429G>A (p.Gln1143=)
c.3729G>A (p.Gln1243=)
2g.120989442G>CCA348174613GLI2c.3477G>C (p.Gln1159His)
c.3528G>C (p.Gln1176His)
c.*2576G>C (n.*2576G>C)
c.*2543+84G>C (n.*2543+84G>C)
c.*2627G>C (n.*2627G>C)
c.*2492+84G>C (n.*2492+84G>C)
c.3510G>C (p.Gln1170His)
c.3387G>C (p.Gln1129His)
c.3333G>C (p.Gln1111His)
c.3153G>C (p.Gln1051His)
c.3102G>C (p.Gln1034His)
c.3780G>C (p.Gln1260His)
c.3429G>C (p.Gln1143His)
c.3729G>C (p.Gln1243His)
2g.120989442G=CA1283795639GLI2c.3477G= (p.Gln1159=)
c.3528G= (p.Gln1176=)
c.*2576G= (n.*2576G=)
c.*2543+84G= (n.*2543+84G=)
c.*2627G= (n.*2627G=)
c.*2492+84G= (n.*2492+84G=)
c.3510G= (p.Gln1170=)
c.3387G= (p.Gln1129=)
c.3333G= (p.Gln1111=)
c.3153G= (p.Gln1051=)
c.3102G= (p.Gln1034=)
c.3780G= (p.Gln1260=)
c.3429G= (p.Gln1143=)
c.3729G= (p.Gln1243=)
2g.120989442G>TCA1852411GLI2c.3477G>T (p.Gln1159His)
c.3528G>T (p.Gln1176His)
c.*2576G>T (n.*2576G>T)
c.*2543+84G>T (n.*2543+84G>T)
c.*2627G>T (n.*2627G>T)
c.*2492+84G>T (n.*2492+84G>T)
c.3510G>T (p.Gln1170His)
c.3387G>T (p.Gln1129His)
c.3333G>T (p.Gln1111His)
c.3153G>T (p.Gln1051His)
c.3102G>T (p.Gln1034His)
c.3780G>T (p.Gln1260His)
c.3429G>T (p.Gln1143His)
c.3729G>T (p.Gln1243His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989443A=CA1283795640GLI2c.3478A= (p.Lys1160=)
c.3529A= (p.Lys1177=)
c.*2577A= (n.*2577A=)
c.*2543+85A= (n.*2543+85A=)
c.*2628A= (n.*2628A=)
c.*2492+85A= (n.*2492+85A=)
c.3511A= (p.Lys1171=)
c.3388A= (p.Lys1130=)
c.3334A= (p.Lys1112=)
c.3154A= (p.Lys1052=)
c.3103A= (p.Lys1035=)
c.3781A= (p.Lys1261=)
c.3430A= (p.Lys1144=)
c.3730A= (p.Lys1244=)
2g.120989443A>CCA348174617GLI2c.3478A>C (p.Lys1160Gln)
c.3529A>C (p.Lys1177Gln)
c.*2577A>C (n.*2577A>C)
c.*2543+85A>C (n.*2543+85A>C)
c.*2628A>C (n.*2628A>C)
c.*2492+85A>C (n.*2492+85A>C)
c.3511A>C (p.Lys1171Gln)
c.3388A>C (p.Lys1130Gln)
c.3334A>C (p.Lys1112Gln)
c.3154A>C (p.Lys1052Gln)
c.3103A>C (p.Lys1035Gln)
c.3781A>C (p.Lys1261Gln)
c.3430A>C (p.Lys1144Gln)
c.3730A>C (p.Lys1244Gln)
2g.120989443A>GCA54384602GLI2c.3478A>G (p.Lys1160Glu)
c.3529A>G (p.Lys1177Glu)
c.*2577A>G (n.*2577A>G)
c.*2543+85A>G (n.*2543+85A>G)
c.*2628A>G (n.*2628A>G)
c.*2492+85A>G (n.*2492+85A>G)
c.3511A>G (p.Lys1171Glu)
c.3388A>G (p.Lys1130Glu)
c.3334A>G (p.Lys1112Glu)
c.3154A>G (p.Lys1052Glu)
c.3103A>G (p.Lys1035Glu)
c.3781A>G (p.Lys1261Glu)
c.3430A>G (p.Lys1144Glu)
c.3730A>G (p.Lys1244Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989443A>TCA348174621GLI2c.3478A>T (p.Lys1160Ter)
c.3529A>T (p.Lys1177Ter)
c.*2577A>T (n.*2577A>T)
c.*2543+85A>T (n.*2543+85A>T)
c.*2628A>T (n.*2628A>T)
c.*2492+85A>T (n.*2492+85A>T)
c.3511A>T (p.Lys1171Ter)
c.3388A>T (p.Lys1130Ter)
c.3334A>T (p.Lys1112Ter)
c.3154A>T (p.Lys1052Ter)
c.3103A>T (p.Lys1035Ter)
c.3781A>T (p.Lys1261Ter)
c.3430A>T (p.Lys1144Ter)
c.3730A>T (p.Lys1244Ter)
2g.120989444A>CCA348174625GLI2c.3479A>C (p.Lys1160Thr)
c.3530A>C (p.Lys1177Thr)
c.*2578A>C (n.*2578A>C)
c.*2543+86A>C (n.*2543+86A>C)
c.*2629A>C (n.*2629A>C)
c.*2492+86A>C (n.*2492+86A>C)
c.3512A>C (p.Lys1171Thr)
c.3389A>C (p.Lys1130Thr)
c.3335A>C (p.Lys1112Thr)
c.3155A>C (p.Lys1052Thr)
c.3104A>C (p.Lys1035Thr)
c.3782A>C (p.Lys1261Thr)
c.3431A>C (p.Lys1144Thr)
c.3731A>C (p.Lys1244Thr)
2g.120989444A>GCA348174640GLI2c.3479A>G (p.Lys1160Arg)
c.3530A>G (p.Lys1177Arg)
c.*2578A>G (n.*2578A>G)
c.*2543+86A>G (n.*2543+86A>G)
c.*2629A>G (n.*2629A>G)
c.*2492+86A>G (n.*2492+86A>G)
c.3512A>G (p.Lys1171Arg)
c.3389A>G (p.Lys1130Arg)
c.3335A>G (p.Lys1112Arg)
c.3155A>G (p.Lys1052Arg)
c.3104A>G (p.Lys1035Arg)
c.3782A>G (p.Lys1261Arg)
c.3431A>G (p.Lys1144Arg)
c.3731A>G (p.Lys1244Arg)
2g.120989444A>TCA348174648GLI2c.3479A>T (p.Lys1160Met)
c.3530A>T (p.Lys1177Met)
c.*2578A>T (n.*2578A>T)
c.*2543+86A>T (n.*2543+86A>T)
c.*2629A>T (n.*2629A>T)
c.*2492+86A>T (n.*2492+86A>T)
c.3512A>T (p.Lys1171Met)
c.3389A>T (p.Lys1130Met)
c.3335A>T (p.Lys1112Met)
c.3155A>T (p.Lys1052Met)
c.3104A>T (p.Lys1035Met)
c.3782A>T (p.Lys1261Met)
c.3431A>T (p.Lys1144Met)
c.3731A>T (p.Lys1244Met)
2g.120989445G>ACA428749979GLI2c.3480G>A (p.Lys1160=)
c.3531G>A (p.Lys1177=)
c.*2579G>A (n.*2579G>A)
c.*2543+87G>A (n.*2543+87G>A)
c.*2630G>A (n.*2630G>A)
c.*2492+87G>A (n.*2492+87G>A)
c.3513G>A (p.Lys1171=)
c.3390G>A (p.Lys1130=)
c.3336G>A (p.Lys1112=)
c.3156G>A (p.Lys1052=)
c.3105G>A (p.Lys1035=)
c.3783G>A (p.Lys1261=)
c.3432G>A (p.Lys1144=)
c.3732G>A (p.Lys1244=)
 gnomAD v4
2g.120989445G>CCA348174655GLI2c.3480G>C (p.Lys1160Asn)
c.3531G>C (p.Lys1177Asn)
c.*2579G>C (n.*2579G>C)
c.*2543+87G>C (n.*2543+87G>C)
c.*2630G>C (n.*2630G>C)
c.*2492+87G>C (n.*2492+87G>C)
c.3513G>C (p.Lys1171Asn)
c.3390G>C (p.Lys1130Asn)
c.3336G>C (p.Lys1112Asn)
c.3156G>C (p.Lys1052Asn)
c.3105G>C (p.Lys1035Asn)
c.3783G>C (p.Lys1261Asn)
c.3432G>C (p.Lys1144Asn)
c.3732G>C (p.Lys1244Asn)
2g.120989445G>TCA348174661GLI2c.3480G>T (p.Lys1160Asn)
c.3531G>T (p.Lys1177Asn)
c.*2579G>T (n.*2579G>T)
c.*2543+87G>T (n.*2543+87G>T)
c.*2630G>T (n.*2630G>T)
c.*2492+87G>T (n.*2492+87G>T)
c.3513G>T (p.Lys1171Asn)
c.3390G>T (p.Lys1130Asn)
c.3336G>T (p.Lys1112Asn)
c.3156G>T (p.Lys1052Asn)
c.3105G>T (p.Lys1035Asn)
c.3783G>T (p.Lys1261Asn)
c.3432G>T (p.Lys1144Asn)
c.3732G>T (p.Lys1244Asn)
2g.120989446C>ACA348174671GLI2c.3481C>A (p.Pro1161Thr)
c.3532C>A (p.Pro1178Thr)
c.*2580C>A (n.*2580C>A)
c.*2543+88C>A (n.*2543+88C>A)
c.*2631C>A (n.*2631C>A)
c.*2492+88C>A (n.*2492+88C>A)
c.3514C>A (p.Pro1172Thr)
c.3391C>A (p.Pro1131Thr)
c.3337C>A (p.Pro1113Thr)
c.3157C>A (p.Pro1053Thr)
c.3106C>A (p.Pro1036Thr)
c.3784C>A (p.Pro1262Thr)
c.3433C>A (p.Pro1145Thr)
c.3733C>A (p.Pro1245Thr)
2g.120989446C>GCA348174673GLI2c.3481C>G (p.Pro1161Ala)
c.3532C>G (p.Pro1178Ala)
c.*2580C>G (n.*2580C>G)
c.*2543+88C>G (n.*2543+88C>G)
c.*2631C>G (n.*2631C>G)
c.*2492+88C>G (n.*2492+88C>G)
c.3514C>G (p.Pro1172Ala)
c.3391C>G (p.Pro1131Ala)
c.3337C>G (p.Pro1113Ala)
c.3157C>G (p.Pro1053Ala)
c.3106C>G (p.Pro1036Ala)
c.3784C>G (p.Pro1262Ala)
c.3433C>G (p.Pro1145Ala)
c.3733C>G (p.Pro1245Ala)
2g.120989446C>TCA348174674GLI2c.3481C>T (p.Pro1161Ser)
c.3532C>T (p.Pro1178Ser)
c.*2580C>T (n.*2580C>T)
c.*2543+88C>T (n.*2543+88C>T)
c.*2631C>T (n.*2631C>T)
c.*2492+88C>T (n.*2492+88C>T)
c.3514C>T (p.Pro1172Ser)
c.3391C>T (p.Pro1131Ser)
c.3337C>T (p.Pro1113Ser)
c.3157C>T (p.Pro1053Ser)
c.3106C>T (p.Pro1036Ser)
c.3784C>T (p.Pro1262Ser)
c.3433C>T (p.Pro1145Ser)
c.3733C>T (p.Pro1245Ser)
2g.120989447C>ACA348174675GLI2c.3482C>A (p.Pro1161His)
c.3533C>A (p.Pro1178His)
c.*2581C>A (n.*2581C>A)
c.*2543+89C>A (n.*2543+89C>A)
c.*2632C>A (n.*2632C>A)
c.*2492+89C>A (n.*2492+89C>A)
c.3515C>A (p.Pro1172His)
c.3392C>A (p.Pro1131His)
c.3338C>A (p.Pro1113His)
c.3158C>A (p.Pro1053His)
c.3107C>A (p.Pro1036His)
c.3785C>A (p.Pro1262His)
c.3434C>A (p.Pro1145His)
c.3734C>A (p.Pro1245His)
2g.120989447C>GCA348174677GLI2c.3482C>G (p.Pro1161Arg)
c.3533C>G (p.Pro1178Arg)
c.*2581C>G (n.*2581C>G)
c.*2543+89C>G (n.*2543+89C>G)
c.*2632C>G (n.*2632C>G)
c.*2492+89C>G (n.*2492+89C>G)
c.3515C>G (p.Pro1172Arg)
c.3392C>G (p.Pro1131Arg)
c.3338C>G (p.Pro1113Arg)
c.3158C>G (p.Pro1053Arg)
c.3107C>G (p.Pro1036Arg)
c.3785C>G (p.Pro1262Arg)
c.3434C>G (p.Pro1145Arg)
c.3734C>G (p.Pro1245Arg)
 ClinVar dbSNP gnomAD v4
2g.120989447C>TCA348174681GLI2c.3482C>T (p.Pro1161Leu)
c.3533C>T (p.Pro1178Leu)
c.*2581C>T (n.*2581C>T)
c.*2543+89C>T (n.*2543+89C>T)
c.*2632C>T (n.*2632C>T)
c.*2492+89C>T (n.*2492+89C>T)
c.3515C>T (p.Pro1172Leu)
c.3392C>T (p.Pro1131Leu)
c.3338C>T (p.Pro1113Leu)
c.3158C>T (p.Pro1053Leu)
c.3107C>T (p.Pro1036Leu)
c.3785C>T (p.Pro1262Leu)
c.3434C>T (p.Pro1145Leu)
c.3734C>T (p.Pro1245Leu)
2g.120989448T>ACA428749980GLI2c.3483T>A (p.Pro1161=)
c.3534T>A (p.Pro1178=)
c.*2582T>A (n.*2582T>A)
c.*2543+90T>A (n.*2543+90T>A)
c.*2633T>A (n.*2633T>A)
c.*2492+90T>A (n.*2492+90T>A)
c.3516T>A (p.Pro1172=)
c.3393T>A (p.Pro1131=)
c.3339T>A (p.Pro1113=)
c.3159T>A (p.Pro1053=)
c.3108T>A (p.Pro1036=)
c.3786T>A (p.Pro1262=)
c.3435T>A (p.Pro1145=)
c.3735T>A (p.Pro1245=)
2g.120989448T>CCA428749982GLI2c.3483T>C (p.Pro1161=)
c.3534T>C (p.Pro1178=)
c.*2582T>C (n.*2582T>C)
c.*2543+90T>C (n.*2543+90T>C)
c.*2633T>C (n.*2633T>C)
c.*2492+90T>C (n.*2492+90T>C)
c.3516T>C (p.Pro1172=)
c.3393T>C (p.Pro1131=)
c.3339T>C (p.Pro1113=)
c.3159T>C (p.Pro1053=)
c.3108T>C (p.Pro1036=)
c.3786T>C (p.Pro1262=)
c.3435T>C (p.Pro1145=)
c.3735T>C (p.Pro1245=)
2g.120989448T>GCA428749981GLI2c.3483T>G (p.Pro1161=)
c.3534T>G (p.Pro1178=)
c.*2582T>G (n.*2582T>G)
c.*2543+90T>G (n.*2543+90T>G)
c.*2633T>G (n.*2633T>G)
c.*2492+90T>G (n.*2492+90T>G)
c.3516T>G (p.Pro1172=)
c.3393T>G (p.Pro1131=)
c.3339T>G (p.Pro1113=)
c.3159T>G (p.Pro1053=)
c.3108T>G (p.Pro1036=)
c.3786T>G (p.Pro1262=)
c.3435T>G (p.Pro1145=)
c.3735T>G (p.Pro1245=)
 dbSNP
2g.120989448T=CA1283795641GLI2c.3483T= (p.Pro1161=)
c.3534T= (p.Pro1178=)
c.*2582T= (n.*2582T=)
c.*2543+90T= (n.*2543+90T=)
c.*2633T= (n.*2633T=)
c.*2492+90T= (n.*2492+90T=)
c.3516T= (p.Pro1172=)
c.3393T= (p.Pro1131=)
c.3339T= (p.Pro1113=)
c.3159T= (p.Pro1053=)
c.3108T= (p.Pro1036=)
c.3786T= (p.Pro1262=)
c.3435T= (p.Pro1145=)
c.3735T= (p.Pro1245=)
2g.120989449G>ACA1852412GLI2c.3484G>A (p.Ala1162Thr)
c.3535G>A (p.Ala1179Thr)
c.*2583G>A (n.*2583G>A)
c.*2543+91G>A (n.*2543+91G>A)
c.*2634G>A (n.*2634G>A)
c.*2492+91G>A (n.*2492+91G>A)
c.3517G>A (p.Ala1173Thr)
c.3394G>A (p.Ala1132Thr)
c.3340G>A (p.Ala1114Thr)
c.3160G>A (p.Ala1054Thr)
c.3109G>A (p.Ala1037Thr)
c.3787G>A (p.Ala1263Thr)
c.3436G>A (p.Ala1146Thr)
c.3736G>A (p.Ala1246Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989449G>CCA348174691GLI2c.3484G>C (p.Ala1162Pro)
c.3535G>C (p.Ala1179Pro)
c.*2583G>C (n.*2583G>C)
c.*2543+91G>C (n.*2543+91G>C)
c.*2634G>C (n.*2634G>C)
c.*2492+91G>C (n.*2492+91G>C)
c.3517G>C (p.Ala1173Pro)
c.3394G>C (p.Ala1132Pro)
c.3340G>C (p.Ala1114Pro)
c.3160G>C (p.Ala1054Pro)
c.3109G>C (p.Ala1037Pro)
c.3787G>C (p.Ala1263Pro)
c.3436G>C (p.Ala1146Pro)
c.3736G>C (p.Ala1246Pro)
2g.120989449G=CA1283795642GLI2c.3484G= (p.Ala1162=)
c.3535G= (p.Ala1179=)
c.*2583G= (n.*2583G=)
c.*2543+91G= (n.*2543+91G=)
c.*2634G= (n.*2634G=)
c.*2492+91G= (n.*2492+91G=)
c.3517G= (p.Ala1173=)
c.3394G= (p.Ala1132=)
c.3340G= (p.Ala1114=)
c.3160G= (p.Ala1054=)
c.3109G= (p.Ala1037=)
c.3787G= (p.Ala1263=)
c.3436G= (p.Ala1146=)
c.3736G= (p.Ala1246=)
2g.120989449G>TCA348174692GLI2c.3484G>T (p.Ala1162Ser)
c.3535G>T (p.Ala1179Ser)
c.*2583G>T (n.*2583G>T)
c.*2543+91G>T (n.*2543+91G>T)
c.*2634G>T (n.*2634G>T)
c.*2492+91G>T (n.*2492+91G>T)
c.3517G>T (p.Ala1173Ser)
c.3394G>T (p.Ala1132Ser)
c.3340G>T (p.Ala1114Ser)
c.3160G>T (p.Ala1054Ser)
c.3109G>T (p.Ala1037Ser)
c.3787G>T (p.Ala1263Ser)
c.3436G>T (p.Ala1146Ser)
c.3736G>T (p.Ala1246Ser)
 dbSNP
2g.120989450C>ACA348174694GLI2c.3485C>A (p.Ala1162Asp)
c.3536C>A (p.Ala1179Asp)
c.*2584C>A (n.*2584C>A)
c.*2543+92C>A (n.*2543+92C>A)
c.*2635C>A (n.*2635C>A)
c.*2492+92C>A (n.*2492+92C>A)
c.3518C>A (p.Ala1173Asp)
c.3395C>A (p.Ala1132Asp)
c.3341C>A (p.Ala1114Asp)
c.3161C>A (p.Ala1054Asp)
c.3110C>A (p.Ala1037Asp)
c.3788C>A (p.Ala1263Asp)
c.3437C>A (p.Ala1146Asp)
c.3737C>A (p.Ala1246Asp)
2g.120989450C>GCA348174696GLI2c.3485C>G (p.Ala1162Gly)
c.3536C>G (p.Ala1179Gly)
c.*2584C>G (n.*2584C>G)
c.*2543+92C>G (n.*2543+92C>G)
c.*2635C>G (n.*2635C>G)
c.*2492+92C>G (n.*2492+92C>G)
c.3518C>G (p.Ala1173Gly)
c.3395C>G (p.Ala1132Gly)
c.3341C>G (p.Ala1114Gly)
c.3161C>G (p.Ala1054Gly)
c.3110C>G (p.Ala1037Gly)
c.3788C>G (p.Ala1263Gly)
c.3437C>G (p.Ala1146Gly)
c.3737C>G (p.Ala1246Gly)
2g.120989450C>TCA348174698GLI2c.3485C>T (p.Ala1162Val)
c.3536C>T (p.Ala1179Val)
c.*2584C>T (n.*2584C>T)
c.*2543+92C>T (n.*2543+92C>T)
c.*2635C>T (n.*2635C>T)
c.*2492+92C>T (n.*2492+92C>T)
c.3518C>T (p.Ala1173Val)
c.3395C>T (p.Ala1132Val)
c.3341C>T (p.Ala1114Val)
c.3161C>T (p.Ala1054Val)
c.3110C>T (p.Ala1037Val)
c.3788C>T (p.Ala1263Val)
c.3437C>T (p.Ala1146Val)
c.3737C>T (p.Ala1246Val)
2g.120989451C>ACA428749983GLI2c.3486C>A (p.Ala1162=)
c.3537C>A (p.Ala1179=)
c.*2585C>A (n.*2585C>A)
c.*2543+93C>A (n.*2543+93C>A)
c.*2636C>A (n.*2636C>A)
c.*2492+93C>A (n.*2492+93C>A)
c.3519C>A (p.Ala1173=)
c.3396C>A (p.Ala1132=)
c.3342C>A (p.Ala1114=)
c.3162C>A (p.Ala1054=)
c.3111C>A (p.Ala1037=)
c.3789C>A (p.Ala1263=)
c.3438C>A (p.Ala1146=)
c.3738C>A (p.Ala1246=)
2g.120989451C>GCA428749984GLI2c.3486C>G (p.Ala1162=)
c.3537C>G (p.Ala1179=)
c.*2585C>G (n.*2585C>G)
c.*2543+93C>G (n.*2543+93C>G)
c.*2636C>G (n.*2636C>G)
c.*2492+93C>G (n.*2492+93C>G)
c.3519C>G (p.Ala1173=)
c.3396C>G (p.Ala1132=)
c.3342C>G (p.Ala1114=)
c.3162C>G (p.Ala1054=)
c.3111C>G (p.Ala1037=)
c.3789C>G (p.Ala1263=)
c.3438C>G (p.Ala1146=)
c.3738C>G (p.Ala1246=)
2g.120989451C>TCA428749985GLI2c.3486C>T (p.Ala1162=)
c.3537C>T (p.Ala1179=)
c.*2585C>T (n.*2585C>T)
c.*2543+93C>T (n.*2543+93C>T)
c.*2636C>T (n.*2636C>T)
c.*2492+93C>T (n.*2492+93C>T)
c.3519C>T (p.Ala1173=)
c.3396C>T (p.Ala1132=)
c.3342C>T (p.Ala1114=)
c.3162C>T (p.Ala1054=)
c.3111C>T (p.Ala1037=)
c.3789C>T (p.Ala1263=)
c.3438C>T (p.Ala1146=)
c.3738C>T (p.Ala1246=)
2g.120989452T>ACA348174707GLI2c.3487T>A (p.Phe1163Ile)
c.3538T>A (p.Phe1180Ile)
c.*2586T>A (n.*2586T>A)
c.*2543+94T>A (n.*2543+94T>A)
c.*2637T>A (n.*2637T>A)
c.*2492+94T>A (n.*2492+94T>A)
c.3520T>A (p.Phe1174Ile)
c.3397T>A (p.Phe1133Ile)
c.3343T>A (p.Phe1115Ile)
c.3163T>A (p.Phe1055Ile)
c.3112T>A (p.Phe1038Ile)
c.3790T>A (p.Phe1264Ile)
c.3439T>A (p.Phe1147Ile)
c.3739T>A (p.Phe1247Ile)
2g.120989452T>CCA348174709GLI2c.3487T>C (p.Phe1163Leu)
c.3538T>C (p.Phe1180Leu)
c.*2586T>C (n.*2586T>C)
c.*2543+94T>C (n.*2543+94T>C)
c.*2637T>C (n.*2637T>C)
c.*2492+94T>C (n.*2492+94T>C)
c.3520T>C (p.Phe1174Leu)
c.3397T>C (p.Phe1133Leu)
c.3343T>C (p.Phe1115Leu)
c.3163T>C (p.Phe1055Leu)
c.3112T>C (p.Phe1038Leu)
c.3790T>C (p.Phe1264Leu)
c.3439T>C (p.Phe1147Leu)
c.3739T>C (p.Phe1247Leu)
2g.120989452T>GCA348174704GLI2c.3487T>G (p.Phe1163Val)
c.3538T>G (p.Phe1180Val)
c.*2586T>G (n.*2586T>G)
c.*2543+94T>G (n.*2543+94T>G)
c.*2637T>G (n.*2637T>G)
c.*2492+94T>G (n.*2492+94T>G)
c.3520T>G (p.Phe1174Val)
c.3397T>G (p.Phe1133Val)
c.3343T>G (p.Phe1115Val)
c.3163T>G (p.Phe1055Val)
c.3112T>G (p.Phe1038Val)
c.3790T>G (p.Phe1264Val)
c.3439T>G (p.Phe1147Val)
c.3739T>G (p.Phe1247Val)
2g.120989453T>ACA348174714GLI2c.3488T>A (p.Phe1163Tyr)
c.3539T>A (p.Phe1180Tyr)
c.*2587T>A (n.*2587T>A)
c.*2543+95T>A (n.*2543+95T>A)
c.*2638T>A (n.*2638T>A)
c.*2492+95T>A (n.*2492+95T>A)
c.3521T>A (p.Phe1174Tyr)
c.3398T>A (p.Phe1133Tyr)
c.3344T>A (p.Phe1115Tyr)
c.3164T>A (p.Phe1055Tyr)
c.3113T>A (p.Phe1038Tyr)
c.3791T>A (p.Phe1264Tyr)
c.3440T>A (p.Phe1147Tyr)
c.3740T>A (p.Phe1247Tyr)
2g.120989453T>CCA348174718GLI2c.3488T>C (p.Phe1163Ser)
c.3539T>C (p.Phe1180Ser)
c.*2587T>C (n.*2587T>C)
c.*2543+95T>C (n.*2543+95T>C)
c.*2638T>C (n.*2638T>C)
c.*2492+95T>C (n.*2492+95T>C)
c.3521T>C (p.Phe1174Ser)
c.3398T>C (p.Phe1133Ser)
c.3344T>C (p.Phe1115Ser)
c.3164T>C (p.Phe1055Ser)
c.3113T>C (p.Phe1038Ser)
c.3791T>C (p.Phe1264Ser)
c.3440T>C (p.Phe1147Ser)
c.3740T>C (p.Phe1247Ser)
2g.120989453T>GCA348174716GLI2c.3488T>G (p.Phe1163Cys)
c.3539T>G (p.Phe1180Cys)
c.*2587T>G (n.*2587T>G)
c.*2543+95T>G (n.*2543+95T>G)
c.*2638T>G (n.*2638T>G)
c.*2492+95T>G (n.*2492+95T>G)
c.3521T>G (p.Phe1174Cys)
c.3398T>G (p.Phe1133Cys)
c.3344T>G (p.Phe1115Cys)
c.3164T>G (p.Phe1055Cys)
c.3113T>G (p.Phe1038Cys)
c.3791T>G (p.Phe1264Cys)
c.3440T>G (p.Phe1147Cys)
c.3740T>G (p.Phe1247Cys)
2g.120989454T>ACA348174720GLI2c.3489T>A (p.Phe1163Leu)
c.3540T>A (p.Phe1180Leu)
c.*2588T>A (n.*2588T>A)
c.*2543+96T>A (n.*2543+96T>A)
c.*2639T>A (n.*2639T>A)
c.*2492+96T>A (n.*2492+96T>A)
c.3522T>A (p.Phe1174Leu)
c.3399T>A (p.Phe1133Leu)
c.3345T>A (p.Phe1115Leu)
c.3165T>A (p.Phe1055Leu)
c.3114T>A (p.Phe1038Leu)
c.3792T>A (p.Phe1264Leu)
c.3441T>A (p.Phe1147Leu)
c.3741T>A (p.Phe1247Leu)
2g.120989454T>CCA1852413GLI2c.3489T>C (p.Phe1163=)
c.3540T>C (p.Phe1180=)
c.*2588T>C (n.*2588T>C)
c.*2543+96T>C (n.*2543+96T>C)
c.*2639T>C (n.*2639T>C)
c.*2492+96T>C (n.*2492+96T>C)
c.3522T>C (p.Phe1174=)
c.3399T>C (p.Phe1133=)
c.3345T>C (p.Phe1115=)
c.3165T>C (p.Phe1055=)
c.3114T>C (p.Phe1038=)
c.3792T>C (p.Phe1264=)
c.3441T>C (p.Phe1147=)
c.3741T>C (p.Phe1247=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.120989454T>GCA348174725GLI2c.3489T>G (p.Phe1163Leu)
c.3540T>G (p.Phe1180Leu)
c.*2588T>G (n.*2588T>G)
c.*2543+96T>G (n.*2543+96T>G)
c.*2639T>G (n.*2639T>G)
c.*2492+96T>G (n.*2492+96T>G)
c.3522T>G (p.Phe1174Leu)
c.3399T>G (p.Phe1133Leu)
c.3345T>G (p.Phe1115Leu)
c.3165T>G (p.Phe1055Leu)
c.3114T>G (p.Phe1038Leu)
c.3792T>G (p.Phe1264Leu)
c.3441T>G (p.Phe1147Leu)
c.3741T>G (p.Phe1247Leu)
2g.120989454T=CA1283795643GLI2c.3489T= (p.Phe1163=)
c.3540T= (p.Phe1180=)
c.*2588T= (n.*2588T=)
c.*2543+96T= (n.*2543+96T=)
c.*2639T= (n.*2639T=)
c.*2492+96T= (n.*2492+96T=)
c.3522T= (p.Phe1174=)
c.3399T= (p.Phe1133=)
c.3345T= (p.Phe1115=)
c.3165T= (p.Phe1055=)
c.3114T= (p.Phe1038=)
c.3792T= (p.Phe1264=)
c.3441T= (p.Phe1147=)
c.3741T= (p.Phe1247=)
2g.120989455G>ACA348174744GLI2c.3490G>A (p.Gly1164Ser)
c.3541G>A (p.Gly1181Ser)
c.*2589G>A (n.*2589G>A)
c.*2543+97G>A (n.*2543+97G>A)
c.*2640G>A (n.*2640G>A)
c.*2492+97G>A (n.*2492+97G>A)
c.3523G>A (p.Gly1175Ser)
c.3400G>A (p.Gly1134Ser)
c.3346G>A (p.Gly1116Ser)
c.3166G>A (p.Gly1056Ser)
c.3115G>A (p.Gly1039Ser)
c.3793G>A (p.Gly1265Ser)
c.3442G>A (p.Gly1148Ser)
c.3742G>A (p.Gly1248Ser)
 gnomAD v4
2g.120989455G>CCA348174749GLI2c.3490G>C (p.Gly1164Arg)
c.3541G>C (p.Gly1181Arg)
c.*2589G>C (n.*2589G>C)
c.*2543+97G>C (n.*2543+97G>C)
c.*2640G>C (n.*2640G>C)
c.*2492+97G>C (n.*2492+97G>C)
c.3523G>C (p.Gly1175Arg)
c.3400G>C (p.Gly1134Arg)
c.3346G>C (p.Gly1116Arg)
c.3166G>C (p.Gly1056Arg)
c.3115G>C (p.Gly1039Arg)
c.3793G>C (p.Gly1265Arg)
c.3442G>C (p.Gly1148Arg)
c.3742G>C (p.Gly1248Arg)
2g.120989455G>TCA348174752GLI2c.3490G>T (p.Gly1164Cys)
c.3541G>T (p.Gly1181Cys)
c.*2589G>T (n.*2589G>T)
c.*2543+97G>T (n.*2543+97G>T)
c.*2640G>T (n.*2640G>T)
c.*2492+97G>T (n.*2492+97G>T)
c.3523G>T (p.Gly1175Cys)
c.3400G>T (p.Gly1134Cys)
c.3346G>T (p.Gly1116Cys)
c.3166G>T (p.Gly1056Cys)
c.3115G>T (p.Gly1039Cys)
c.3793G>T (p.Gly1265Cys)
c.3442G>T (p.Gly1148Cys)
c.3742G>T (p.Gly1248Cys)
2g.120989456G>ACA348174757GLI2c.3491G>A (p.Gly1164Asp)
c.3542G>A (p.Gly1181Asp)
c.*2590G>A (n.*2590G>A)
c.*2543+98G>A (n.*2543+98G>A)
c.*2641G>A (n.*2641G>A)
c.*2492+98G>A (n.*2492+98G>A)
c.3524G>A (p.Gly1175Asp)
c.3401G>A (p.Gly1134Asp)
c.3347G>A (p.Gly1116Asp)
c.3167G>A (p.Gly1056Asp)
c.3116G>A (p.Gly1039Asp)
c.3794G>A (p.Gly1265Asp)
c.3443G>A (p.Gly1148Asp)
c.3743G>A (p.Gly1248Asp)
 gnomAD v4
2g.120989456G>CCA348174768GLI2c.3491G>C (p.Gly1164Ala)
c.3542G>C (p.Gly1181Ala)
c.*2590G>C (n.*2590G>C)
c.*2543+98G>C (n.*2543+98G>C)
c.*2641G>C (n.*2641G>C)
c.*2492+98G>C (n.*2492+98G>C)
c.3524G>C (p.Gly1175Ala)
c.3401G>C (p.Gly1134Ala)
c.3347G>C (p.Gly1116Ala)
c.3167G>C (p.Gly1056Ala)
c.3116G>C (p.Gly1039Ala)
c.3794G>C (p.Gly1265Ala)
c.3443G>C (p.Gly1148Ala)
c.3743G>C (p.Gly1248Ala)
 COSMIC
2g.120989456G>TCA348174769GLI2c.3491G>T (p.Gly1164Val)
c.3542G>T (p.Gly1181Val)
c.*2590G>T (n.*2590G>T)
c.*2543+98G>T (n.*2543+98G>T)
c.*2641G>T (n.*2641G>T)
c.*2492+98G>T (n.*2492+98G>T)
c.3524G>T (p.Gly1175Val)
c.3401G>T (p.Gly1134Val)
c.3347G>T (p.Gly1116Val)
c.3167G>T (p.Gly1056Val)
c.3116G>T (p.Gly1039Val)
c.3794G>T (p.Gly1265Val)
c.3443G>T (p.Gly1148Val)
c.3743G>T (p.Gly1248Val)
 gnomAD v4
2g.120989457C>ACA428749986GLI2c.3492C>A (p.Gly1164=)
c.3543C>A (p.Gly1181=)
c.*2591C>A (n.*2591C>A)
c.*2543+99C>A (n.*2543+99C>A)
c.*2642C>A (n.*2642C>A)
c.*2492+99C>A (n.*2492+99C>A)
c.3525C>A (p.Gly1175=)
c.3402C>A (p.Gly1134=)
c.3348C>A (p.Gly1116=)
c.3168C>A (p.Gly1056=)
c.3117C>A (p.Gly1039=)
c.3795C>A (p.Gly1265=)
c.3444C>A (p.Gly1148=)
c.3744C>A (p.Gly1248=)
2g.120989457C=CA1283795644GLI2c.3492C= (p.Gly1164=)
c.3543C= (p.Gly1181=)
c.*2591C= (n.*2591C=)
c.*2543+99C= (n.*2543+99C=)
c.*2642C= (n.*2642C=)
c.*2492+99C= (n.*2492+99C=)
c.3525C= (p.Gly1175=)
c.3402C= (p.Gly1134=)
c.3348C= (p.Gly1116=)
c.3168C= (p.Gly1056=)
c.3117C= (p.Gly1039=)
c.3795C= (p.Gly1265=)
c.3444C= (p.Gly1148=)
c.3744C= (p.Gly1248=)
2g.120989457C>GCA428749987GLI2c.3492C>G (p.Gly1164=)
c.3543C>G (p.Gly1181=)
c.*2591C>G (n.*2591C>G)
c.*2543+99C>G (n.*2543+99C>G)
c.*2642C>G (n.*2642C>G)
c.*2492+99C>G (n.*2492+99C>G)
c.3525C>G (p.Gly1175=)
c.3402C>G (p.Gly1134=)
c.3348C>G (p.Gly1116=)
c.3168C>G (p.Gly1056=)
c.3117C>G (p.Gly1039=)
c.3795C>G (p.Gly1265=)
c.3444C>G (p.Gly1148=)
c.3744C>G (p.Gly1248=)
2g.120989457C>TCA54384616GLI2c.3492C>T (p.Gly1164=)
c.3543C>T (p.Gly1181=)
c.*2591C>T (n.*2591C>T)
c.*2543+99C>T (n.*2543+99C>T)
c.*2642C>T (n.*2642C>T)
c.*2492+99C>T (n.*2492+99C>T)
c.3525C>T (p.Gly1175=)
c.3402C>T (p.Gly1134=)
c.3348C>T (p.Gly1116=)
c.3168C>T (p.Gly1056=)
c.3117C>T (p.Gly1039=)
c.3795C>T (p.Gly1265=)
c.3444C>T (p.Gly1148=)
c.3744C>T (p.Gly1248=)
 dbSNP gnomAD v4
2g.120989458C>ACA1852414GLI2c.3493C>A (p.Gln1165Lys)
c.3544C>A (p.Gln1182Lys)
c.*2592C>A (n.*2592C>A)
c.*2543+100C>A (n.*2543+100C>A)
c.*2643C>A (n.*2643C>A)
c.*2492+100C>A (n.*2492+100C>A)
c.3526C>A (p.Gln1176Lys)
c.3403C>A (p.Gln1135Lys)
c.3349C>A (p.Gln1117Lys)
c.3169C>A (p.Gln1057Lys)
c.3118C>A (p.Gln1040Lys)
c.3796C>A (p.Gln1266Lys)
c.3445C>A (p.Gln1149Lys)
c.3745C>A (p.Gln1249Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989458C=CA1283795645GLI2c.3493C= (p.Gln1165=)
c.3544C= (p.Gln1182=)
c.*2592C= (n.*2592C=)
c.*2543+100C= (n.*2543+100C=)
c.*2643C= (n.*2643C=)
c.*2492+100C= (n.*2492+100C=)
c.3526C= (p.Gln1176=)
c.3403C= (p.Gln1135=)
c.3349C= (p.Gln1117=)
c.3169C= (p.Gln1057=)
c.3118C= (p.Gln1040=)
c.3796C= (p.Gln1266=)
c.3445C= (p.Gln1149=)
c.3745C= (p.Gln1249=)
2g.120989458C>GCA348174778GLI2c.3493C>G (p.Gln1165Glu)
c.3544C>G (p.Gln1182Glu)
c.*2592C>G (n.*2592C>G)
c.*2543+100C>G (n.*2543+100C>G)
c.*2643C>G (n.*2643C>G)
c.*2492+100C>G (n.*2492+100C>G)
c.3526C>G (p.Gln1176Glu)
c.3403C>G (p.Gln1135Glu)
c.3349C>G (p.Gln1117Glu)
c.3169C>G (p.Gln1057Glu)
c.3118C>G (p.Gln1040Glu)
c.3796C>G (p.Gln1266Glu)
c.3445C>G (p.Gln1149Glu)
c.3745C>G (p.Gln1249Glu)
2g.120989458C>TCA348174779GLI2c.3493C>T (p.Gln1165Ter)
c.3544C>T (p.Gln1182Ter)
c.*2592C>T (n.*2592C>T)
c.*2543+100C>T (n.*2543+100C>T)
c.*2643C>T (n.*2643C>T)
c.*2492+100C>T (n.*2492+100C>T)
c.3526C>T (p.Gln1176Ter)
c.3403C>T (p.Gln1135Ter)
c.3349C>T (p.Gln1117Ter)
c.3169C>T (p.Gln1057Ter)
c.3118C>T (p.Gln1040Ter)
c.3796C>T (p.Gln1266Ter)
c.3445C>T (p.Gln1149Ter)
c.3745C>T (p.Gln1249Ter)
2g.120989459A>CCA348174781GLI2c.3494A>C (p.Gln1165Pro)
c.3545A>C (p.Gln1182Pro)
c.*2593A>C (n.*2593A>C)
c.*2543+101A>C (n.*2543+101A>C)
c.*2644A>C (n.*2644A>C)
c.*2492+101A>C (n.*2492+101A>C)
c.3527A>C (p.Gln1176Pro)
c.3404A>C (p.Gln1135Pro)
c.3350A>C (p.Gln1117Pro)
c.3170A>C (p.Gln1057Pro)
c.3119A>C (p.Gln1040Pro)
c.3797A>C (p.Gln1266Pro)
c.3446A>C (p.Gln1149Pro)
c.3746A>C (p.Gln1249Pro)
2g.120989459A>GCA348174783GLI2c.3494A>G (p.Gln1165Arg)
c.3545A>G (p.Gln1182Arg)
c.*2593A>G (n.*2593A>G)
c.*2543+101A>G (n.*2543+101A>G)
c.*2644A>G (n.*2644A>G)
c.*2492+101A>G (n.*2492+101A>G)
c.3527A>G (p.Gln1176Arg)
c.3404A>G (p.Gln1135Arg)
c.3350A>G (p.Gln1117Arg)
c.3170A>G (p.Gln1057Arg)
c.3119A>G (p.Gln1040Arg)
c.3797A>G (p.Gln1266Arg)
c.3446A>G (p.Gln1149Arg)
c.3746A>G (p.Gln1249Arg)
2g.120989459A>TCA348174788GLI2c.3494A>T (p.Gln1165Leu)
c.3545A>T (p.Gln1182Leu)
c.*2593A>T (n.*2593A>T)
c.*2543+101A>T (n.*2543+101A>T)
c.*2644A>T (n.*2644A>T)
c.*2492+101A>T (n.*2492+101A>T)
c.3527A>T (p.Gln1176Leu)
c.3404A>T (p.Gln1135Leu)
c.3350A>T (p.Gln1117Leu)
c.3170A>T (p.Gln1057Leu)
c.3119A>T (p.Gln1040Leu)
c.3797A>T (p.Gln1266Leu)
c.3446A>T (p.Gln1149Leu)
c.3746A>T (p.Gln1249Leu)
2g.120989460G>ACA428749988GLI2c.3495G>A (p.Gln1165=)
c.3546G>A (p.Gln1182=)
c.*2594G>A (n.*2594G>A)
c.*2543+102G>A (n.*2543+102G>A)
c.*2645G>A (n.*2645G>A)
c.*2492+102G>A (n.*2492+102G>A)
c.3528G>A (p.Gln1176=)
c.3405G>A (p.Gln1135=)
c.3351G>A (p.Gln1117=)
c.3171G>A (p.Gln1057=)
c.3120G>A (p.Gln1040=)
c.3798G>A (p.Gln1266=)
c.3447G>A (p.Gln1149=)
c.3747G>A (p.Gln1249=)
 gnomAD v4
2g.120989460G>CCA348174791GLI2c.3495G>C (p.Gln1165His)
c.3546G>C (p.Gln1182His)
c.*2594G>C (n.*2594G>C)
c.*2543+102G>C (n.*2543+102G>C)
c.*2645G>C (n.*2645G>C)
c.*2492+102G>C (n.*2492+102G>C)
c.3528G>C (p.Gln1176His)
c.3405G>C (p.Gln1135His)
c.3351G>C (p.Gln1117His)
c.3171G>C (p.Gln1057His)
c.3120G>C (p.Gln1040His)
c.3798G>C (p.Gln1266His)
c.3447G>C (p.Gln1149His)
c.3747G>C (p.Gln1249His)
2g.120989460G>TCA348174793GLI2c.3495G>T (p.Gln1165His)
c.3546G>T (p.Gln1182His)
c.*2594G>T (n.*2594G>T)
c.*2543+102G>T (n.*2543+102G>T)
c.*2645G>T (n.*2645G>T)
c.*2492+102G>T (n.*2492+102G>T)
c.3528G>T (p.Gln1176His)
c.3405G>T (p.Gln1135His)
c.3351G>T (p.Gln1117His)
c.3171G>T (p.Gln1057His)
c.3120G>T (p.Gln1040His)
c.3798G>T (p.Gln1266His)
c.3447G>T (p.Gln1149His)
c.3747G>T (p.Gln1249His)
2g.120989461T>ACA348174803GLI2c.3496T>A (p.Tyr1166Asn)
c.3547T>A (p.Tyr1183Asn)
c.*2595T>A (n.*2595T>A)
c.*2543+103T>A (n.*2543+103T>A)
c.*2646T>A (n.*2646T>A)
c.*2492+103T>A (n.*2492+103T>A)
c.3529T>A (p.Tyr1177Asn)
c.3406T>A (p.Tyr1136Asn)
c.3352T>A (p.Tyr1118Asn)
c.3172T>A (p.Tyr1058Asn)
c.3121T>A (p.Tyr1041Asn)
c.3799T>A (p.Tyr1267Asn)
c.3448T>A (p.Tyr1150Asn)
c.3748T>A (p.Tyr1250Asn)
 gnomAD v4
2g.120989461T>CCA348174805GLI2c.3496T>C (p.Tyr1166His)
c.3547T>C (p.Tyr1183His)
c.*2595T>C (n.*2595T>C)
c.*2543+103T>C (n.*2543+103T>C)
c.*2646T>C (n.*2646T>C)
c.*2492+103T>C (n.*2492+103T>C)
c.3529T>C (p.Tyr1177His)
c.3406T>C (p.Tyr1136His)
c.3352T>C (p.Tyr1118His)
c.3172T>C (p.Tyr1058His)
c.3121T>C (p.Tyr1041His)
c.3799T>C (p.Tyr1267His)
c.3448T>C (p.Tyr1150His)
c.3748T>C (p.Tyr1250His)
2g.120989461T>GCA348174804GLI2c.3496T>G (p.Tyr1166Asp)
c.3547T>G (p.Tyr1183Asp)
c.*2595T>G (n.*2595T>G)
c.*2543+103T>G (n.*2543+103T>G)
c.*2646T>G (n.*2646T>G)
c.*2492+103T>G (n.*2492+103T>G)
c.3529T>G (p.Tyr1177Asp)
c.3406T>G (p.Tyr1136Asp)
c.3352T>G (p.Tyr1118Asp)
c.3172T>G (p.Tyr1058Asp)
c.3121T>G (p.Tyr1041Asp)
c.3799T>G (p.Tyr1267Asp)
c.3448T>G (p.Tyr1150Asp)
c.3748T>G (p.Tyr1250Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989461T=CA1283795646GLI2c.3496T= (p.Tyr1166=)
c.3547T= (p.Tyr1183=)
c.*2595T= (n.*2595T=)
c.*2543+103T= (n.*2543+103T=)
c.*2646T= (n.*2646T=)
c.*2492+103T= (n.*2492+103T=)
c.3529T= (p.Tyr1177=)
c.3406T= (p.Tyr1136=)
c.3352T= (p.Tyr1118=)
c.3172T= (p.Tyr1058=)
c.3121T= (p.Tyr1041=)
c.3799T= (p.Tyr1267=)
c.3448T= (p.Tyr1150=)
c.3748T= (p.Tyr1250=)
2g.120989462A>CCA348174806GLI2c.3497A>C (p.Tyr1166Ser)
c.3548A>C (p.Tyr1183Ser)
c.*2596A>C (n.*2596A>C)
c.*2543+104A>C (n.*2543+104A>C)
c.*2647A>C (n.*2647A>C)
c.*2492+104A>C (n.*2492+104A>C)
c.3530A>C (p.Tyr1177Ser)
c.3407A>C (p.Tyr1136Ser)
c.3353A>C (p.Tyr1118Ser)
c.3173A>C (p.Tyr1058Ser)
c.3122A>C (p.Tyr1041Ser)
c.3800A>C (p.Tyr1267Ser)
c.3449A>C (p.Tyr1150Ser)
c.3749A>C (p.Tyr1250Ser)
2g.120989462A>GCA348174810GLI2c.3497A>G (p.Tyr1166Cys)
c.3548A>G (p.Tyr1183Cys)
c.*2596A>G (n.*2596A>G)
c.*2543+104A>G (n.*2543+104A>G)
c.*2647A>G (n.*2647A>G)
c.*2492+104A>G (n.*2492+104A>G)
c.3530A>G (p.Tyr1177Cys)
c.3407A>G (p.Tyr1136Cys)
c.3353A>G (p.Tyr1118Cys)
c.3173A>G (p.Tyr1058Cys)
c.3122A>G (p.Tyr1041Cys)
c.3800A>G (p.Tyr1267Cys)
c.3449A>G (p.Tyr1150Cys)
c.3749A>G (p.Tyr1250Cys)
2g.120989462A>TCA348174819GLI2c.3497A>T (p.Tyr1166Phe)
c.3548A>T (p.Tyr1183Phe)
c.*2596A>T (n.*2596A>T)
c.*2543+104A>T (n.*2543+104A>T)
c.*2647A>T (n.*2647A>T)
c.*2492+104A>T (n.*2492+104A>T)
c.3530A>T (p.Tyr1177Phe)
c.3407A>T (p.Tyr1136Phe)
c.3353A>T (p.Tyr1118Phe)
c.3173A>T (p.Tyr1058Phe)
c.3122A>T (p.Tyr1041Phe)
c.3800A>T (p.Tyr1267Phe)
c.3449A>T (p.Tyr1150Phe)
c.3749A>T (p.Tyr1250Phe)
2g.120989463C>ACA348174823GLI2c.3498C>A (p.Tyr1166Ter)
c.3549C>A (p.Tyr1183Ter)
c.*2597C>A (n.*2597C>A)
c.*2543+105C>A (n.*2543+105C>A)
c.*2648C>A (n.*2648C>A)
c.*2492+105C>A (n.*2492+105C>A)
c.3531C>A (p.Tyr1177Ter)
c.3408C>A (p.Tyr1136Ter)
c.3354C>A (p.Tyr1118Ter)
c.3174C>A (p.Tyr1058Ter)
c.3123C>A (p.Tyr1041Ter)
c.3801C>A (p.Tyr1267Ter)
c.3450C>A (p.Tyr1150Ter)
c.3750C>A (p.Tyr1250Ter)
2g.120989463C>GCA348174836GLI2c.3498C>G (p.Tyr1166Ter)
c.3549C>G (p.Tyr1183Ter)
c.*2597C>G (n.*2597C>G)
c.*2543+105C>G (n.*2543+105C>G)
c.*2648C>G (n.*2648C>G)
c.*2492+105C>G (n.*2492+105C>G)
c.3531C>G (p.Tyr1177Ter)
c.3408C>G (p.Tyr1136Ter)
c.3354C>G (p.Tyr1118Ter)
c.3174C>G (p.Tyr1058Ter)
c.3123C>G (p.Tyr1041Ter)
c.3801C>G (p.Tyr1267Ter)
c.3450C>G (p.Tyr1150Ter)
c.3750C>G (p.Tyr1250Ter)
2g.120989463C>TCA428749990GLI2c.3498C>T (p.Tyr1166=)
c.3549C>T (p.Tyr1183=)
c.*2597C>T (n.*2597C>T)
c.*2543+105C>T (n.*2543+105C>T)
c.*2648C>T (n.*2648C>T)
c.*2492+105C>T (n.*2492+105C>T)
c.3531C>T (p.Tyr1177=)
c.3408C>T (p.Tyr1136=)
c.3354C>T (p.Tyr1118=)
c.3174C>T (p.Tyr1058=)
c.3123C>T (p.Tyr1041=)
c.3801C>T (p.Tyr1267=)
c.3450C>T (p.Tyr1150=)
c.3750C>T (p.Tyr1250=)
 gnomAD v4
2g.120989464C>ACA348174844GLI2c.3499C>A (p.Pro1167Thr)
c.3550C>A (p.Pro1184Thr)
c.*2598C>A (n.*2598C>A)
c.*2543+106C>A (n.*2543+106C>A)
c.*2649C>A (n.*2649C>A)
c.*2492+106C>A (n.*2492+106C>A)
c.3532C>A (p.Pro1178Thr)
c.3409C>A (p.Pro1137Thr)
c.3355C>A (p.Pro1119Thr)
c.3175C>A (p.Pro1059Thr)
c.3124C>A (p.Pro1042Thr)
c.3802C>A (p.Pro1268Thr)
c.3451C>A (p.Pro1151Thr)
c.3751C>A (p.Pro1251Thr)
 COSMIC
2g.120989464C>GCA348174845GLI2c.3499C>G (p.Pro1167Ala)
c.3550C>G (p.Pro1184Ala)
c.*2598C>G (n.*2598C>G)
c.*2543+106C>G (n.*2543+106C>G)
c.*2649C>G (n.*2649C>G)
c.*2492+106C>G (n.*2492+106C>G)
c.3532C>G (p.Pro1178Ala)
c.3409C>G (p.Pro1137Ala)
c.3355C>G (p.Pro1119Ala)
c.3175C>G (p.Pro1059Ala)
c.3124C>G (p.Pro1042Ala)
c.3802C>G (p.Pro1268Ala)
c.3451C>G (p.Pro1151Ala)
c.3751C>G (p.Pro1251Ala)
2g.120989464C>TCA348174849GLI2c.3499C>T (p.Pro1167Ser)
c.3550C>T (p.Pro1184Ser)
c.*2598C>T (n.*2598C>T)
c.*2543+106C>T (n.*2543+106C>T)
c.*2649C>T (n.*2649C>T)
c.*2492+106C>T (n.*2492+106C>T)
c.3532C>T (p.Pro1178Ser)
c.3409C>T (p.Pro1137Ser)
c.3355C>T (p.Pro1119Ser)
c.3175C>T (p.Pro1059Ser)
c.3124C>T (p.Pro1042Ser)
c.3802C>T (p.Pro1268Ser)
c.3451C>T (p.Pro1151Ser)
c.3751C>T (p.Pro1251Ser)
 gnomAD v4
2g.120989465C>ACA10586750GLI2c.3500C>A (p.Pro1167Gln)
c.3551C>A (p.Pro1184Gln)
c.*2599C>A (n.*2599C>A)
c.*2543+107C>A (n.*2543+107C>A)
c.*2650C>A (n.*2650C>A)
c.*2492+107C>A (n.*2492+107C>A)
c.3533C>A (p.Pro1178Gln)
c.3410C>A (p.Pro1137Gln)
c.3356C>A (p.Pro1119Gln)
c.3176C>A (p.Pro1059Gln)
c.3125C>A (p.Pro1042Gln)
c.3803C>A (p.Pro1268Gln)
c.3452C>A (p.Pro1151Gln)
c.3752C>A (p.Pro1251Gln)
 ClinVar dbSNP
2g.120989465C=CA1283795647GLI2c.3500C= (p.Pro1167=)
c.3551C= (p.Pro1184=)
c.*2599C= (n.*2599C=)
c.*2543+107C= (n.*2543+107C=)
c.*2650C= (n.*2650C=)
c.*2492+107C= (n.*2492+107C=)
c.3533C= (p.Pro1178=)
c.3410C= (p.Pro1137=)
c.3356C= (p.Pro1119=)
c.3176C= (p.Pro1059=)
c.3125C= (p.Pro1042=)
c.3803C= (p.Pro1268=)
c.3452C= (p.Pro1151=)
c.3752C= (p.Pro1251=)
2g.120989465C>GCA348174853GLI2c.3500C>G (p.Pro1167Arg)
c.3551C>G (p.Pro1184Arg)
c.*2599C>G (n.*2599C>G)
c.*2543+107C>G (n.*2543+107C>G)
c.*2650C>G (n.*2650C>G)
c.*2492+107C>G (n.*2492+107C>G)
c.3533C>G (p.Pro1178Arg)
c.3410C>G (p.Pro1137Arg)
c.3356C>G (p.Pro1119Arg)
c.3176C>G (p.Pro1059Arg)
c.3125C>G (p.Pro1042Arg)
c.3803C>G (p.Pro1268Arg)
c.3452C>G (p.Pro1151Arg)
c.3752C>G (p.Pro1251Arg)
 dbSNP
2g.120989465C>TCA1852415GLI2c.3500C>T (p.Pro1167Leu)
c.3551C>T (p.Pro1184Leu)
c.*2599C>T (n.*2599C>T)
c.*2543+107C>T (n.*2543+107C>T)
c.*2650C>T (n.*2650C>T)
c.*2492+107C>T (n.*2492+107C>T)
c.3533C>T (p.Pro1178Leu)
c.3410C>T (p.Pro1137Leu)
c.3356C>T (p.Pro1119Leu)
c.3176C>T (p.Pro1059Leu)
c.3125C>T (p.Pro1042Leu)
c.3803C>T (p.Pro1268Leu)
c.3452C>T (p.Pro1151Leu)
c.3752C>T (p.Pro1251Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989466G>ACA428749991GLI2c.3501G>A (p.Pro1167=)
c.3552G>A (p.Pro1184=)
c.*2600G>A (n.*2600G>A)
c.*2543+108G>A (n.*2543+108G>A)
c.*2651G>A (n.*2651G>A)
c.*2492+108G>A (n.*2492+108G>A)
c.3534G>A (p.Pro1178=)
c.3411G>A (p.Pro1137=)
c.3357G>A (p.Pro1119=)
c.3177G>A (p.Pro1059=)
c.3126G>A (p.Pro1042=)
c.3804G>A (p.Pro1268=)
c.3453G>A (p.Pro1151=)
c.3753G>A (p.Pro1251=)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.120989466G>CCA428749992GLI2c.3501G>C (p.Pro1167=)
c.3552G>C (p.Pro1184=)
c.*2600G>C (n.*2600G>C)
c.*2543+108G>C (n.*2543+108G>C)
c.*2651G>C (n.*2651G>C)
c.*2492+108G>C (n.*2492+108G>C)
c.3534G>C (p.Pro1178=)
c.3411G>C (p.Pro1137=)
c.3357G>C (p.Pro1119=)
c.3177G>C (p.Pro1059=)
c.3126G>C (p.Pro1042=)
c.3804G>C (p.Pro1268=)
c.3453G>C (p.Pro1151=)
c.3753G>C (p.Pro1251=)
2g.120989466G=CA1283795648GLI2c.3501G= (p.Pro1167=)
c.3552G= (p.Pro1184=)
c.*2600G= (n.*2600G=)
c.*2543+108G= (n.*2543+108G=)
c.*2651G= (n.*2651G=)
c.*2492+108G= (n.*2492+108G=)
c.3534G= (p.Pro1178=)
c.3411G= (p.Pro1137=)
c.3357G= (p.Pro1119=)
c.3177G= (p.Pro1059=)
c.3126G= (p.Pro1042=)
c.3804G= (p.Pro1268=)
c.3453G= (p.Pro1151=)
c.3753G= (p.Pro1251=)
2g.120989466G>TCA428749993GLI2c.3501G>T (p.Pro1167=)
c.3552G>T (p.Pro1184=)
c.*2600G>T (n.*2600G>T)
c.*2543+108G>T (n.*2543+108G>T)
c.*2651G>T (n.*2651G>T)
c.*2492+108G>T (n.*2492+108G>T)
c.3534G>T (p.Pro1178=)
c.3411G>T (p.Pro1137=)
c.3357G>T (p.Pro1119=)
c.3177G>T (p.Pro1059=)
c.3126G>T (p.Pro1042=)
c.3804G>T (p.Pro1268=)
c.3453G>T (p.Pro1151=)
c.3753G>T (p.Pro1251=)
 gnomAD v4
2g.120989467G>ACA348174855GLI2c.3502G>A (p.Gly1168Ser)
c.3553G>A (p.Gly1185Ser)
c.*2601G>A (n.*2601G>A)
c.*2543+109G>A (n.*2543+109G>A)
c.*2652G>A (n.*2652G>A)
c.*2492+109G>A (n.*2492+109G>A)
c.3535G>A (p.Gly1179Ser)
c.3412G>A (p.Gly1138Ser)
c.3358G>A (p.Gly1120Ser)
c.3178G>A (p.Gly1060Ser)
c.3127G>A (p.Gly1043Ser)
c.3805G>A (p.Gly1269Ser)
c.3454G>A (p.Gly1152Ser)
c.3754G>A (p.Gly1252Ser)
 dbSNP
2g.120989467G>CCA348174858GLI2c.3502G>C (p.Gly1168Arg)
c.3553G>C (p.Gly1185Arg)
c.*2601G>C (n.*2601G>C)
c.*2543+109G>C (n.*2543+109G>C)
c.*2652G>C (n.*2652G>C)
c.*2492+109G>C (n.*2492+109G>C)
c.3535G>C (p.Gly1179Arg)
c.3412G>C (p.Gly1138Arg)
c.3358G>C (p.Gly1120Arg)
c.3178G>C (p.Gly1060Arg)
c.3127G>C (p.Gly1043Arg)
c.3805G>C (p.Gly1269Arg)
c.3454G>C (p.Gly1152Arg)
c.3754G>C (p.Gly1252Arg)
 gnomAD v4
2g.120989467G>TCA348174856GLI2c.3502G>T (p.Gly1168Cys)
c.3553G>T (p.Gly1185Cys)
c.*2601G>T (n.*2601G>T)
c.*2543+109G>T (n.*2543+109G>T)
c.*2652G>T (n.*2652G>T)
c.*2492+109G>T (n.*2492+109G>T)
c.3535G>T (p.Gly1179Cys)
c.3412G>T (p.Gly1138Cys)
c.3358G>T (p.Gly1120Cys)
c.3178G>T (p.Gly1060Cys)
c.3127G>T (p.Gly1043Cys)
c.3805G>T (p.Gly1269Cys)
c.3454G>T (p.Gly1152Cys)
c.3754G>T (p.Gly1252Cys)
2g.120989468G>ACA348174863GLI2c.3503G>A (p.Gly1168Asp)
c.3554G>A (p.Gly1185Asp)
c.*2602G>A (n.*2602G>A)
c.*2543+110G>A (n.*2543+110G>A)
c.*2653G>A (n.*2653G>A)
c.*2492+110G>A (n.*2492+110G>A)
c.3536G>A (p.Gly1179Asp)
c.3413G>A (p.Gly1138Asp)
c.3359G>A (p.Gly1120Asp)
c.3179G>A (p.Gly1060Asp)
c.3128G>A (p.Gly1043Asp)
c.3806G>A (p.Gly1269Asp)
c.3455G>A (p.Gly1152Asp)
c.3755G>A (p.Gly1252Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.120989468G>CCA348174869GLI2c.3503G>C (p.Gly1168Ala)
c.3554G>C (p.Gly1185Ala)
c.*2602G>C (n.*2602G>C)
c.*2543+110G>C (n.*2543+110G>C)
c.*2653G>C (n.*2653G>C)
c.*2492+110G>C (n.*2492+110G>C)
c.3536G>C (p.Gly1179Ala)
c.3413G>C (p.Gly1138Ala)
c.3359G>C (p.Gly1120Ala)
c.3179G>C (p.Gly1060Ala)
c.3128G>C (p.Gly1043Ala)
c.3806G>C (p.Gly1269Ala)
c.3455G>C (p.Gly1152Ala)
c.3755G>C (p.Gly1252Ala)
2g.120989468G=CA1283795649GLI2c.3503G= (p.Gly1168=)
c.3554G= (p.Gly1185=)
c.*2602G= (n.*2602G=)
c.*2543+110G= (n.*2543+110G=)
c.*2653G= (n.*2653G=)
c.*2492+110G= (n.*2492+110G=)
c.3536G= (p.Gly1179=)
c.3413G= (p.Gly1138=)
c.3359G= (p.Gly1120=)
c.3179G= (p.Gly1060=)
c.3128G= (p.Gly1043=)
c.3806G= (p.Gly1269=)
c.3455G= (p.Gly1152=)
c.3755G= (p.Gly1252=)
2g.120989468G>TCA348174876GLI2c.3503G>T (p.Gly1168Val)
c.3554G>T (p.Gly1185Val)
c.*2602G>T (n.*2602G>T)
c.*2543+110G>T (n.*2543+110G>T)
c.*2653G>T (n.*2653G>T)
c.*2492+110G>T (n.*2492+110G>T)
c.3536G>T (p.Gly1179Val)
c.3413G>T (p.Gly1138Val)
c.3359G>T (p.Gly1120Val)
c.3179G>T (p.Gly1060Val)
c.3128G>T (p.Gly1043Val)
c.3806G>T (p.Gly1269Val)
c.3455G>T (p.Gly1152Val)
c.3755G>T (p.Gly1252Val)
2g.120989469delCA2586969878GLI2c.3504del (p.Tyr1169ThrfsTer?)
c.3555del (p.Tyr1186ThrfsTer?)
c.*2603del (n.*2603del)
c.*2543+111del (n.*2543+111del)
c.*2654del (n.*2654del)
c.*2492+111del (n.*2492+111del)
c.3537del (p.Tyr1180ThrfsTer?)
c.3414del (p.Tyr1139ThrfsTer?)
c.3360del (p.Tyr1121ThrfsTer?)
c.3180del (p.Tyr1061ThrfsTer?)
c.3129del (p.Tyr1044ThrfsTer?)
c.3807del (p.Tyr1270ThrfsTer?)
c.3456del (p.Tyr1153ThrfsTer?)
c.3756del (p.Tyr1253ThrfsTer?)
2g.120989469C>ACA428749994GLI2c.3504C>A (p.Gly1168=)
c.3555C>A (p.Gly1185=)
c.*2603C>A (n.*2603C>A)
c.*2543+111C>A (n.*2543+111C>A)
c.*2654C>A (n.*2654C>A)
c.*2492+111C>A (n.*2492+111C>A)
c.3537C>A (p.Gly1179=)
c.3414C>A (p.Gly1138=)
c.3360C>A (p.Gly1120=)
c.3180C>A (p.Gly1060=)
c.3129C>A (p.Gly1043=)
c.3807C>A (p.Gly1269=)
c.3456C>A (p.Gly1152=)
c.3756C>A (p.Gly1252=)
2g.120989469C=CA1283795650GLI2c.3504C= (p.Gly1168=)
c.3555C= (p.Gly1185=)
c.*2603C= (n.*2603C=)
c.*2543+111C= (n.*2543+111C=)
c.*2654C= (n.*2654C=)
c.*2492+111C= (n.*2492+111C=)
c.3537C= (p.Gly1179=)
c.3414C= (p.Gly1138=)
c.3360C= (p.Gly1120=)
c.3180C= (p.Gly1060=)
c.3129C= (p.Gly1043=)
c.3807C= (p.Gly1269=)
c.3456C= (p.Gly1152=)
c.3756C= (p.Gly1252=)
2g.120989469C>GCA428749995GLI2c.3504C>G (p.Gly1168=)
c.3555C>G (p.Gly1185=)
c.*2603C>G (n.*2603C>G)
c.*2543+111C>G (n.*2543+111C>G)
c.*2654C>G (n.*2654C>G)
c.*2492+111C>G (n.*2492+111C>G)
c.3537C>G (p.Gly1179=)
c.3414C>G (p.Gly1138=)
c.3360C>G (p.Gly1120=)
c.3180C>G (p.Gly1060=)
c.3129C>G (p.Gly1043=)
c.3807C>G (p.Gly1269=)
c.3456C>G (p.Gly1152=)
c.3756C>G (p.Gly1252=)
2g.120989469C>TCA1852416GLI2c.3504C>T (p.Gly1168=)
c.3555C>T (p.Gly1185=)
c.*2603C>T (n.*2603C>T)
c.*2543+111C>T (n.*2543+111C>T)
c.*2654C>T (n.*2654C>T)
c.*2492+111C>T (n.*2492+111C>T)
c.3537C>T (p.Gly1179=)
c.3414C>T (p.Gly1138=)
c.3360C>T (p.Gly1120=)
c.3180C>T (p.Gly1060=)
c.3129C>T (p.Gly1043=)
c.3807C>T (p.Gly1269=)
c.3456C>T (p.Gly1152=)
c.3756C>T (p.Gly1252=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989470T>ACA348174883GLI2c.3505T>A (p.Tyr1169Asn)
c.3556T>A (p.Tyr1186Asn)
c.*2604T>A (n.*2604T>A)
c.*2543+112T>A (n.*2543+112T>A)
c.*2655T>A (n.*2655T>A)
c.*2492+112T>A (n.*2492+112T>A)
c.3538T>A (p.Tyr1180Asn)
c.3415T>A (p.Tyr1139Asn)
c.3361T>A (p.Tyr1121Asn)
c.3181T>A (p.Tyr1061Asn)
c.3130T>A (p.Tyr1044Asn)
c.3808T>A (p.Tyr1270Asn)
c.3457T>A (p.Tyr1153Asn)
c.3757T>A (p.Tyr1253Asn)
2g.120989470T>CCA348174887GLI2c.3505T>C (p.Tyr1169His)
c.3556T>C (p.Tyr1186His)
c.*2604T>C (n.*2604T>C)
c.*2543+112T>C (n.*2543+112T>C)
c.*2655T>C (n.*2655T>C)
c.*2492+112T>C (n.*2492+112T>C)
c.3538T>C (p.Tyr1180His)
c.3415T>C (p.Tyr1139His)
c.3361T>C (p.Tyr1121His)
c.3181T>C (p.Tyr1061His)
c.3130T>C (p.Tyr1044His)
c.3808T>C (p.Tyr1270His)
c.3457T>C (p.Tyr1153His)
c.3757T>C (p.Tyr1253His)
2g.120989470T>GCA348174895GLI2c.3505T>G (p.Tyr1169Asp)
c.3556T>G (p.Tyr1186Asp)
c.*2604T>G (n.*2604T>G)
c.*2543+112T>G (n.*2543+112T>G)
c.*2655T>G (n.*2655T>G)
c.*2492+112T>G (n.*2492+112T>G)
c.3538T>G (p.Tyr1180Asp)
c.3415T>G (p.Tyr1139Asp)
c.3361T>G (p.Tyr1121Asp)
c.3181T>G (p.Tyr1061Asp)
c.3130T>G (p.Tyr1044Asp)
c.3808T>G (p.Tyr1270Asp)
c.3457T>G (p.Tyr1153Asp)
c.3757T>G (p.Tyr1253Asp)
2g.120989471A=CA1283795651GLI2c.3506A= (p.Tyr1169=)
c.3557A= (p.Tyr1186=)
c.*2605A= (n.*2605A=)
c.*2543+113A= (n.*2543+113A=)
c.*2656A= (n.*2656A=)
c.*2492+113A= (n.*2492+113A=)
c.3539A= (p.Tyr1180=)
c.3416A= (p.Tyr1139=)
c.3362A= (p.Tyr1121=)
c.3182A= (p.Tyr1061=)
c.3131A= (p.Tyr1044=)
c.3809A= (p.Tyr1270=)
c.3458A= (p.Tyr1153=)
c.3758A= (p.Tyr1253=)
2g.120989471A>CCA348174899GLI2c.3506A>C (p.Tyr1169Ser)
c.3557A>C (p.Tyr1186Ser)
c.*2605A>C (n.*2605A>C)
c.*2543+113A>C (n.*2543+113A>C)
c.*2656A>C (n.*2656A>C)
c.*2492+113A>C (n.*2492+113A>C)
c.3539A>C (p.Tyr1180Ser)
c.3416A>C (p.Tyr1139Ser)
c.3362A>C (p.Tyr1121Ser)
c.3182A>C (p.Tyr1061Ser)
c.3131A>C (p.Tyr1044Ser)
c.3809A>C (p.Tyr1270Ser)
c.3458A>C (p.Tyr1153Ser)
c.3758A>C (p.Tyr1253Ser)
2g.120989471A>GCA1852417GLI2c.3506A>G (p.Tyr1169Cys)
c.3557A>G (p.Tyr1186Cys)
c.*2605A>G (n.*2605A>G)
c.*2543+113A>G (n.*2543+113A>G)
c.*2656A>G (n.*2656A>G)
c.*2492+113A>G (n.*2492+113A>G)
c.3539A>G (p.Tyr1180Cys)
c.3416A>G (p.Tyr1139Cys)
c.3362A>G (p.Tyr1121Cys)
c.3182A>G (p.Tyr1061Cys)
c.3131A>G (p.Tyr1044Cys)
c.3809A>G (p.Tyr1270Cys)
c.3458A>G (p.Tyr1153Cys)
c.3758A>G (p.Tyr1253Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989471A>TCA348174905GLI2c.3506A>T (p.Tyr1169Phe)
c.3557A>T (p.Tyr1186Phe)
c.*2605A>T (n.*2605A>T)
c.*2543+113A>T (n.*2543+113A>T)
c.*2656A>T (n.*2656A>T)
c.*2492+113A>T (n.*2492+113A>T)
c.3539A>T (p.Tyr1180Phe)
c.3416A>T (p.Tyr1139Phe)
c.3362A>T (p.Tyr1121Phe)
c.3182A>T (p.Tyr1061Phe)
c.3131A>T (p.Tyr1044Phe)
c.3809A>T (p.Tyr1270Phe)
c.3458A>T (p.Tyr1153Phe)
c.3758A>T (p.Tyr1253Phe)
2g.120989472C>ACA348174919GLI2c.3507C>A (p.Tyr1169Ter)
c.3558C>A (p.Tyr1186Ter)
c.*2606C>A (n.*2606C>A)
c.*2543+114C>A (n.*2543+114C>A)
c.*2657C>A (n.*2657C>A)
c.*2492+114C>A (n.*2492+114C>A)
c.3540C>A (p.Tyr1180Ter)
c.3417C>A (p.Tyr1139Ter)
c.3363C>A (p.Tyr1121Ter)
c.3183C>A (p.Tyr1061Ter)
c.3132C>A (p.Tyr1044Ter)
c.3810C>A (p.Tyr1270Ter)
c.3459C>A (p.Tyr1153Ter)
c.3759C>A (p.Tyr1253Ter)
2g.120989472C=CA1283795652GLI2c.3507C= (p.Tyr1169=)
c.3558C= (p.Tyr1186=)
c.*2606C= (n.*2606C=)
c.*2543+114C= (n.*2543+114C=)
c.*2657C= (n.*2657C=)
c.*2492+114C= (n.*2492+114C=)
c.3540C= (p.Tyr1180=)
c.3417C= (p.Tyr1139=)
c.3363C= (p.Tyr1121=)
c.3183C= (p.Tyr1061=)
c.3132C= (p.Tyr1044=)
c.3810C= (p.Tyr1270=)
c.3459C= (p.Tyr1153=)
c.3759C= (p.Tyr1253=)
2g.120989472C>GCA348174922GLI2c.3507C>G (p.Tyr1169Ter)
c.3558C>G (p.Tyr1186Ter)
c.*2606C>G (n.*2606C>G)
c.*2543+114C>G (n.*2543+114C>G)
c.*2657C>G (n.*2657C>G)
c.*2492+114C>G (n.*2492+114C>G)
c.3540C>G (p.Tyr1180Ter)
c.3417C>G (p.Tyr1139Ter)
c.3363C>G (p.Tyr1121Ter)
c.3183C>G (p.Tyr1061Ter)
c.3132C>G (p.Tyr1044Ter)
c.3810C>G (p.Tyr1270Ter)
c.3459C>G (p.Tyr1153Ter)
c.3759C>G (p.Tyr1253Ter)
2g.120989472C>TCA428749996GLI2c.3507C>T (p.Tyr1169=)
c.3558C>T (p.Tyr1186=)
c.*2606C>T (n.*2606C>T)
c.*2543+114C>T (n.*2543+114C>T)
c.*2657C>T (n.*2657C>T)
c.*2492+114C>T (n.*2492+114C>T)
c.3540C>T (p.Tyr1180=)
c.3417C>T (p.Tyr1139=)
c.3363C>T (p.Tyr1121=)
c.3183C>T (p.Tyr1061=)
c.3132C>T (p.Tyr1044=)
c.3810C>T (p.Tyr1270=)
c.3459C>T (p.Tyr1153=)
c.3759C>T (p.Tyr1253=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989473A=CA1283795653GLI2c.3508A= (p.Ser1170=)
c.3559A= (p.Ser1187=)
c.*2607A= (n.*2607A=)
c.*2543+115A= (n.*2543+115A=)
c.*2658A= (n.*2658A=)
c.*2492+115A= (n.*2492+115A=)
c.3541A= (p.Ser1181=)
c.3418A= (p.Ser1140=)
c.3364A= (p.Ser1122=)
c.3184A= (p.Ser1062=)
c.3133A= (p.Ser1045=)
c.3811A= (p.Ser1271=)
c.3460A= (p.Ser1154=)
c.3760A= (p.Ser1254=)
2g.120989473A>CCA348174931GLI2c.3508A>C (p.Ser1170Arg)
c.3559A>C (p.Ser1187Arg)
c.*2607A>C (n.*2607A>C)
c.*2543+115A>C (n.*2543+115A>C)
c.*2658A>C (n.*2658A>C)
c.*2492+115A>C (n.*2492+115A>C)
c.3541A>C (p.Ser1181Arg)
c.3418A>C (p.Ser1140Arg)
c.3364A>C (p.Ser1122Arg)
c.3184A>C (p.Ser1062Arg)
c.3133A>C (p.Ser1045Arg)
c.3811A>C (p.Ser1271Arg)
c.3460A>C (p.Ser1154Arg)
c.3760A>C (p.Ser1254Arg)
2g.120989473A>GCA348174925GLI2c.3508A>G (p.Ser1170Gly)
c.3559A>G (p.Ser1187Gly)
c.*2607A>G (n.*2607A>G)
c.*2543+115A>G (n.*2543+115A>G)
c.*2658A>G (n.*2658A>G)
c.*2492+115A>G (n.*2492+115A>G)
c.3541A>G (p.Ser1181Gly)
c.3418A>G (p.Ser1140Gly)
c.3364A>G (p.Ser1122Gly)
c.3184A>G (p.Ser1062Gly)
c.3133A>G (p.Ser1045Gly)
c.3811A>G (p.Ser1271Gly)
c.3460A>G (p.Ser1154Gly)
c.3760A>G (p.Ser1254Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.120989473A>TCA348174926GLI2c.3508A>T (p.Ser1170Cys)
c.3559A>T (p.Ser1187Cys)
c.*2607A>T (n.*2607A>T)
c.*2543+115A>T (n.*2543+115A>T)
c.*2658A>T (n.*2658A>T)
c.*2492+115A>T (n.*2492+115A>T)
c.3541A>T (p.Ser1181Cys)
c.3418A>T (p.Ser1140Cys)
c.3364A>T (p.Ser1122Cys)
c.3184A>T (p.Ser1062Cys)
c.3133A>T (p.Ser1045Cys)
c.3811A>T (p.Ser1271Cys)
c.3460A>T (p.Ser1154Cys)
c.3760A>T (p.Ser1254Cys)
2g.120989474G>ACA348174937GLI2c.3509G>A (p.Ser1170Asn)
c.3560G>A (p.Ser1187Asn)
c.*2608G>A (n.*2608G>A)
c.*2543+116G>A (n.*2543+116G>A)
c.*2659G>A (n.*2659G>A)
c.*2492+116G>A (n.*2492+116G>A)
c.3542G>A (p.Ser1181Asn)
c.3419G>A (p.Ser1140Asn)
c.3365G>A (p.Ser1122Asn)
c.3185G>A (p.Ser1062Asn)
c.3134G>A (p.Ser1045Asn)
c.3812G>A (p.Ser1271Asn)
c.3461G>A (p.Ser1154Asn)
c.3761G>A (p.Ser1254Asn)
2g.120989474G>CCA348174941GLI2c.3509G>C (p.Ser1170Thr)
c.3560G>C (p.Ser1187Thr)
c.*2608G>C (n.*2608G>C)
c.*2543+116G>C (n.*2543+116G>C)
c.*2659G>C (n.*2659G>C)
c.*2492+116G>C (n.*2492+116G>C)
c.3542G>C (p.Ser1181Thr)
c.3419G>C (p.Ser1140Thr)
c.3365G>C (p.Ser1122Thr)
c.3185G>C (p.Ser1062Thr)
c.3134G>C (p.Ser1045Thr)
c.3812G>C (p.Ser1271Thr)
c.3461G>C (p.Ser1154Thr)
c.3761G>C (p.Ser1254Thr)
2g.120989474G>TCA348174942GLI2c.3509G>T (p.Ser1170Ile)
c.3560G>T (p.Ser1187Ile)
c.*2608G>T (n.*2608G>T)
c.*2543+116G>T (n.*2543+116G>T)
c.*2659G>T (n.*2659G>T)
c.*2492+116G>T (n.*2492+116G>T)
c.3542G>T (p.Ser1181Ile)
c.3419G>T (p.Ser1140Ile)
c.3365G>T (p.Ser1122Ile)
c.3185G>T (p.Ser1062Ile)
c.3134G>T (p.Ser1045Ile)
c.3812G>T (p.Ser1271Ile)
c.3461G>T (p.Ser1154Ile)
c.3761G>T (p.Ser1254Ile)
2g.120989475T>ACA348174943GLI2c.3510T>A (p.Ser1170Arg)
c.3561T>A (p.Ser1187Arg)
c.*2609T>A (n.*2609T>A)
c.*2543+117T>A (n.*2543+117T>A)
c.*2660T>A (n.*2660T>A)
c.*2492+117T>A (n.*2492+117T>A)
c.3543T>A (p.Ser1181Arg)
c.3420T>A (p.Ser1140Arg)
c.3366T>A (p.Ser1122Arg)
c.3186T>A (p.Ser1062Arg)
c.3135T>A (p.Ser1045Arg)
c.3813T>A (p.Ser1271Arg)
c.3462T>A (p.Ser1154Arg)
c.3762T>A (p.Ser1254Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989475T>CCA428749997GLI2c.3510T>C (p.Ser1170=)
c.3561T>C (p.Ser1187=)
c.*2609T>C (n.*2609T>C)
c.*2543+117T>C (n.*2543+117T>C)
c.*2660T>C (n.*2660T>C)
c.*2492+117T>C (n.*2492+117T>C)
c.3543T>C (p.Ser1181=)
c.3420T>C (p.Ser1140=)
c.3366T>C (p.Ser1122=)
c.3186T>C (p.Ser1062=)
c.3135T>C (p.Ser1045=)
c.3813T>C (p.Ser1271=)
c.3462T>C (p.Ser1154=)
c.3762T>C (p.Ser1254=)
 dbSNP
2g.120989475T>GCA348174944GLI2c.3510T>G (p.Ser1170Arg)
c.3561T>G (p.Ser1187Arg)
c.*2609T>G (n.*2609T>G)
c.*2543+117T>G (n.*2543+117T>G)
c.*2660T>G (n.*2660T>G)
c.*2492+117T>G (n.*2492+117T>G)
c.3543T>G (p.Ser1181Arg)
c.3420T>G (p.Ser1140Arg)
c.3366T>G (p.Ser1122Arg)
c.3186T>G (p.Ser1062Arg)
c.3135T>G (p.Ser1045Arg)
c.3813T>G (p.Ser1271Arg)
c.3462T>G (p.Ser1154Arg)
c.3762T>G (p.Ser1254Arg)
2g.120989475T=CA1283795654GLI2c.3510T= (p.Ser1170=)
c.3561T= (p.Ser1187=)
c.*2609T= (n.*2609T=)
c.*2543+117T= (n.*2543+117T=)
c.*2660T= (n.*2660T=)
c.*2492+117T= (n.*2492+117T=)
c.3543T= (p.Ser1181=)
c.3420T= (p.Ser1140=)
c.3366T= (p.Ser1122=)
c.3186T= (p.Ser1062=)
c.3135T= (p.Ser1045=)
c.3813T= (p.Ser1271=)
c.3462T= (p.Ser1154=)
c.3762T= (p.Ser1254=)
2g.120989476C>ACA348174947GLI2c.3511C>A (p.Pro1171Thr)
c.3562C>A (p.Pro1188Thr)
c.*2610C>A (n.*2610C>A)
c.*2543+118C>A (n.*2543+118C>A)
c.*2661C>A (n.*2661C>A)
c.*2492+118C>A (n.*2492+118C>A)
c.3544C>A (p.Pro1182Thr)
c.3421C>A (p.Pro1141Thr)
c.3367C>A (p.Pro1123Thr)
c.3187C>A (p.Pro1063Thr)
c.3136C>A (p.Pro1046Thr)
c.3814C>A (p.Pro1272Thr)
c.3463C>A (p.Pro1155Thr)
c.3763C>A (p.Pro1255Thr)
2g.120989476C>GCA348174954GLI2c.3511C>G (p.Pro1171Ala)
c.3562C>G (p.Pro1188Ala)
c.*2610C>G (n.*2610C>G)
c.*2543+118C>G (n.*2543+118C>G)
c.*2661C>G (n.*2661C>G)
c.*2492+118C>G (n.*2492+118C>G)
c.3544C>G (p.Pro1182Ala)
c.3421C>G (p.Pro1141Ala)
c.3367C>G (p.Pro1123Ala)
c.3187C>G (p.Pro1063Ala)
c.3136C>G (p.Pro1046Ala)
c.3814C>G (p.Pro1272Ala)
c.3463C>G (p.Pro1155Ala)
c.3763C>G (p.Pro1255Ala)
2g.120989476C>TCA348174958GLI2c.3511C>T (p.Pro1171Ser)
c.3562C>T (p.Pro1188Ser)
c.*2610C>T (n.*2610C>T)
c.*2543+118C>T (n.*2543+118C>T)
c.*2661C>T (n.*2661C>T)
c.*2492+118C>T (n.*2492+118C>T)
c.3544C>T (p.Pro1182Ser)
c.3421C>T (p.Pro1141Ser)
c.3367C>T (p.Pro1123Ser)
c.3187C>T (p.Pro1063Ser)
c.3136C>T (p.Pro1046Ser)
c.3814C>T (p.Pro1272Ser)
c.3463C>T (p.Pro1155Ser)
c.3763C>T (p.Pro1255Ser)
2g.120989477C>ACA348174963GLI2c.3512C>A (p.Pro1171Gln)
c.3563C>A (p.Pro1188Gln)
c.*2611C>A (n.*2611C>A)
c.*2543+119C>A (n.*2543+119C>A)
c.*2662C>A (n.*2662C>A)
c.*2492+119C>A (n.*2492+119C>A)
c.3545C>A (p.Pro1182Gln)
c.3422C>A (p.Pro1141Gln)
c.3368C>A (p.Pro1123Gln)
c.3188C>A (p.Pro1063Gln)
c.3137C>A (p.Pro1046Gln)
c.3815C>A (p.Pro1272Gln)
c.3464C>A (p.Pro1155Gln)
c.3764C>A (p.Pro1255Gln)
2g.120989477C=CA1283795655GLI2c.3512C= (p.Pro1171=)
c.3563C= (p.Pro1188=)
c.*2611C= (n.*2611C=)
c.*2543+119C= (n.*2543+119C=)
c.*2662C= (n.*2662C=)
c.*2492+119C= (n.*2492+119C=)
c.3545C= (p.Pro1182=)
c.3422C= (p.Pro1141=)
c.3368C= (p.Pro1123=)
c.3188C= (p.Pro1063=)
c.3137C= (p.Pro1046=)
c.3815C= (p.Pro1272=)
c.3464C= (p.Pro1155=)
c.3764C= (p.Pro1255=)
2g.120989477C>GCA1852419GLI2c.3512C>G (p.Pro1171Arg)
c.3563C>G (p.Pro1188Arg)
c.*2611C>G (n.*2611C>G)
c.*2543+119C>G (n.*2543+119C>G)
c.*2662C>G (n.*2662C>G)
c.*2492+119C>G (n.*2492+119C>G)
c.3545C>G (p.Pro1182Arg)
c.3422C>G (p.Pro1141Arg)
c.3368C>G (p.Pro1123Arg)
c.3188C>G (p.Pro1063Arg)
c.3137C>G (p.Pro1046Arg)
c.3815C>G (p.Pro1272Arg)
c.3464C>G (p.Pro1155Arg)
c.3764C>G (p.Pro1255Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989477C>TCA1852418GLI2c.3512C>T (p.Pro1171Leu)
c.3563C>T (p.Pro1188Leu)
c.*2611C>T (n.*2611C>T)
c.*2543+119C>T (n.*2543+119C>T)
c.*2662C>T (n.*2662C>T)
c.*2492+119C>T (n.*2492+119C>T)
c.3545C>T (p.Pro1182Leu)
c.3422C>T (p.Pro1141Leu)
c.3368C>T (p.Pro1123Leu)
c.3188C>T (p.Pro1063Leu)
c.3137C>T (p.Pro1046Leu)
c.3815C>T (p.Pro1272Leu)
c.3464C>T (p.Pro1155Leu)
c.3764C>T (p.Pro1255Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.120989478G>ACA1852420GLI2c.3513G>A (p.Pro1171=)
c.3564G>A (p.Pro1188=)
c.*2612G>A (n.*2612G>A)
c.*2543+120G>A (n.*2543+120G>A)
c.*2663G>A (n.*2663G>A)
c.*2492+120G>A (n.*2492+120G>A)
c.3546G>A (p.Pro1182=)
c.3423G>A (p.Pro1141=)
c.3369G>A (p.Pro1123=)
c.3189G>A (p.Pro1063=)
c.3138G>A (p.Pro1046=)
c.3816G>A (p.Pro1272=)
c.3465G>A (p.Pro1155=)
c.3765G>A (p.Pro1255=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.120989478G>CCA428749998GLI2c.3513G>C (p.Pro1171=)
c.3564G>C (p.Pro1188=)
c.*2612G>C (n.*2612G>C)
c.*2543+120G>C (n.*2543+120G>C)
c.*2663G>C (n.*2663G>C)
c.*2492+120G>C (n.*2492+120G>C)
c.3546G>C (p.Pro1182=)
c.3423G>C (p.Pro1141=)
c.3369G>C (p.Pro1123=)
c.3189G>C (p.Pro1063=)
c.3138G>C (p.Pro1046=)
c.3816G>C (p.Pro1272=)
c.3465G>C (p.Pro1155=)
c.3765G>C (p.Pro1255=)
 gnomAD v4
2g.120989478G=CA1283795656GLI2c.3513G= (p.Pro1171=)
c.3564G= (p.Pro1188=)
c.*2612G= (n.*2612G=)
c.*2543+120G= (n.*2543+120G=)
c.*2663G= (n.*2663G=)
c.*2492+120G= (n.*2492+120G=)
c.3546G= (p.Pro1182=)
c.3423G= (p.Pro1141=)
c.3369G= (p.Pro1123=)
c.3189G= (p.Pro1063=)
c.3138G= (p.Pro1046=)
c.3816G= (p.Pro1272=)
c.3465G= (p.Pro1155=)
c.3765G= (p.Pro1255=)
2g.120989478G>TCA1852421GLI2c.3513G>T (p.Pro1171=)
c.3564G>T (p.Pro1188=)
c.*2612G>T (n.*2612G>T)
c.*2543+120G>T (n.*2543+120G>T)
c.*2663G>T (n.*2663G>T)
c.*2492+120G>T (n.*2492+120G>T)
c.3546G>T (p.Pro1182=)
c.3423G>T (p.Pro1141=)
c.3369G>T (p.Pro1123=)
c.3189G>T (p.Pro1063=)
c.3138G>T (p.Pro1046=)
c.3816G>T (p.Pro1272=)
c.3465G>T (p.Pro1155=)
c.3765G>T (p.Pro1255=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989479C>ACA348174973GLI2c.3514C>A (p.Gln1172Lys)
c.3565C>A (p.Gln1189Lys)
c.*2613C>A (n.*2613C>A)
c.*2543+121C>A (n.*2543+121C>A)
c.*2664C>A (n.*2664C>A)
c.*2492+121C>A (n.*2492+121C>A)
c.3547C>A (p.Gln1183Lys)
c.3424C>A (p.Gln1142Lys)
c.3370C>A (p.Gln1124Lys)
c.3190C>A (p.Gln1064Lys)
c.3139C>A (p.Gln1047Lys)
c.3817C>A (p.Gln1273Lys)
c.3466C>A (p.Gln1156Lys)
c.3766C>A (p.Gln1256Lys)
 dbSNP
2g.120989479C=CA1283795657GLI2c.3514C= (p.Gln1172=)
c.3565C= (p.Gln1189=)
c.*2613C= (n.*2613C=)
c.*2543+121C= (n.*2543+121C=)
c.*2664C= (n.*2664C=)
c.*2492+121C= (n.*2492+121C=)
c.3547C= (p.Gln1183=)
c.3424C= (p.Gln1142=)
c.3370C= (p.Gln1124=)
c.3190C= (p.Gln1064=)
c.3139C= (p.Gln1047=)
c.3817C= (p.Gln1273=)
c.3466C= (p.Gln1156=)
c.3766C= (p.Gln1256=)
2g.120989479C>GCA348174993GLI2c.3514C>G (p.Gln1172Glu)
c.3565C>G (p.Gln1189Glu)
c.*2613C>G (n.*2613C>G)
c.*2543+121C>G (n.*2543+121C>G)
c.*2664C>G (n.*2664C>G)
c.*2492+121C>G (n.*2492+121C>G)
c.3547C>G (p.Gln1183Glu)
c.3424C>G (p.Gln1142Glu)
c.3370C>G (p.Gln1124Glu)
c.3190C>G (p.Gln1064Glu)
c.3139C>G (p.Gln1047Glu)
c.3817C>G (p.Gln1273Glu)
c.3466C>G (p.Gln1156Glu)
c.3766C>G (p.Gln1256Glu)
2g.120989479C>TCA348174989GLI2c.3514C>T (p.Gln1172Ter)
c.3565C>T (p.Gln1189Ter)
c.*2613C>T (n.*2613C>T)
c.*2543+121C>T (n.*2543+121C>T)
c.*2664C>T (n.*2664C>T)
c.*2492+121C>T (n.*2492+121C>T)
c.3547C>T (p.Gln1183Ter)
c.3424C>T (p.Gln1142Ter)
c.3370C>T (p.Gln1124Ter)
c.3190C>T (p.Gln1064Ter)
c.3139C>T (p.Gln1047Ter)
c.3817C>T (p.Gln1273Ter)
c.3466C>T (p.Gln1156Ter)
c.3766C>T (p.Gln1256Ter)
2g.120989480A>CCA348175004GLI2c.3515A>C (p.Gln1172Pro)
c.3566A>C (p.Gln1189Pro)
c.*2614A>C (n.*2614A>C)
c.*2543+122A>C (n.*2543+122A>C)
c.*2665A>C (n.*2665A>C)
c.*2492+122A>C (n.*2492+122A>C)
c.3548A>C (p.Gln1183Pro)
c.3425A>C (p.Gln1142Pro)
c.3371A>C (p.Gln1124Pro)
c.3191A>C (p.Gln1064Pro)
c.3140A>C (p.Gln1047Pro)
c.3818A>C (p.Gln1273Pro)
c.3467A>C (p.Gln1156Pro)
c.3767A>C (p.Gln1256Pro)
 gnomAD v4
2g.120989480A>GCA348175006GLI2c.3515A>G (p.Gln1172Arg)
c.3566A>G (p.Gln1189Arg)
c.*2614A>G (n.*2614A>G)
c.*2543+122A>G (n.*2543+122A>G)
c.*2665A>G (n.*2665A>G)
c.*2492+122A>G (n.*2492+122A>G)
c.3548A>G (p.Gln1183Arg)
c.3425A>G (p.Gln1142Arg)
c.3371A>G (p.Gln1124Arg)
c.3191A>G (p.Gln1064Arg)
c.3140A>G (p.Gln1047Arg)
c.3818A>G (p.Gln1273Arg)
c.3467A>G (p.Gln1156Arg)
c.3767A>G (p.Gln1256Arg)
2g.120989480A>TCA348175010GLI2c.3515A>T (p.Gln1172Leu)
c.3566A>T (p.Gln1189Leu)
c.*2614A>T (n.*2614A>T)
c.*2543+122A>T (n.*2543+122A>T)
c.*2665A>T (n.*2665A>T)
c.*2492+122A>T (n.*2492+122A>T)
c.3548A>T (p.Gln1183Leu)
c.3425A>T (p.Gln1142Leu)
c.3371A>T (p.Gln1124Leu)
c.3191A>T (p.Gln1064Leu)
c.3140A>T (p.Gln1047Leu)
c.3818A>T (p.Gln1273Leu)
c.3467A>T (p.Gln1156Leu)
c.3767A>T (p.Gln1256Leu)

Number of alleles fetched