Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.120988975C>ACA348171011GLI2c.3010C>A (p.Arg1004Ser)
c.3061C>A (p.Arg1021Ser)
c.*2109C>A (n.*2109C>A)
c.*2160C>A (n.*2160C>A)
c.3043C>A (p.Arg1015Ser)
c.2920C>A (p.Arg974Ser)
c.2866C>A (p.Arg956Ser)
c.2686C>A (p.Arg896Ser)
c.2635C>A (p.Arg879Ser)
c.3313C>A (p.Arg1105Ser)
c.2962C>A (p.Arg988Ser)
c.3262C>A (p.Arg1088Ser)
 gnomAD v4
2g.120988975C=CA1283795391GLI2c.3010C= (p.Arg1004=)
c.3061C= (p.Arg1021=)
c.*2109C= (n.*2109C=)
c.*2160C= (n.*2160C=)
c.3043C= (p.Arg1015=)
c.2920C= (p.Arg974=)
c.2866C= (p.Arg956=)
c.2686C= (p.Arg896=)
c.2635C= (p.Arg879=)
c.3313C= (p.Arg1105=)
c.2962C= (p.Arg988=)
c.3262C= (p.Arg1088=)
2g.120988975C>GCA348171014GLI2c.3010C>G (p.Arg1004Gly)
c.3061C>G (p.Arg1021Gly)
c.*2109C>G (n.*2109C>G)
c.*2160C>G (n.*2160C>G)
c.3043C>G (p.Arg1015Gly)
c.2920C>G (p.Arg974Gly)
c.2866C>G (p.Arg956Gly)
c.2686C>G (p.Arg896Gly)
c.2635C>G (p.Arg879Gly)
c.3313C>G (p.Arg1105Gly)
c.2962C>G (p.Arg988Gly)
c.3262C>G (p.Arg1088Gly)
 gnomAD v4
2g.120988975C>TCA1852299GLI2c.3010C>T (p.Arg1004Cys)
c.3061C>T (p.Arg1021Cys)
c.*2109C>T (n.*2109C>T)
c.*2160C>T (n.*2160C>T)
c.3043C>T (p.Arg1015Cys)
c.2920C>T (p.Arg974Cys)
c.2866C>T (p.Arg956Cys)
c.2686C>T (p.Arg896Cys)
c.2635C>T (p.Arg879Cys)
c.3313C>T (p.Arg1105Cys)
c.2962C>T (p.Arg988Cys)
c.3262C>T (p.Arg1088Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120988976G>ACA1852300GLI2c.3011G>A (p.Arg1004His)
c.3062G>A (p.Arg1021His)
c.*2110G>A (n.*2110G>A)
c.*2161G>A (n.*2161G>A)
c.3044G>A (p.Arg1015His)
c.2921G>A (p.Arg974His)
c.2867G>A (p.Arg956His)
c.2687G>A (p.Arg896His)
c.2636G>A (p.Arg879His)
c.3314G>A (p.Arg1105His)
c.2963G>A (p.Arg988His)
c.3263G>A (p.Arg1088His)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.120988976G>CCA348171020GLI2c.3011G>C (p.Arg1004Pro)
c.3062G>C (p.Arg1021Pro)
c.*2110G>C (n.*2110G>C)
c.*2161G>C (n.*2161G>C)
c.3044G>C (p.Arg1015Pro)
c.2921G>C (p.Arg974Pro)
c.2867G>C (p.Arg956Pro)
c.2687G>C (p.Arg896Pro)
c.2636G>C (p.Arg879Pro)
c.3314G>C (p.Arg1105Pro)
c.2963G>C (p.Arg988Pro)
c.3263G>C (p.Arg1088Pro)
2g.120988976G=CA1283795392GLI2c.3011G= (p.Arg1004=)
c.3062G= (p.Arg1021=)
c.*2110G= (n.*2110G=)
c.*2161G= (n.*2161G=)
c.3044G= (p.Arg1015=)
c.2921G= (p.Arg974=)
c.2867G= (p.Arg956=)
c.2687G= (p.Arg896=)
c.2636G= (p.Arg879=)
c.3314G= (p.Arg1105=)
c.2963G= (p.Arg988=)
c.3263G= (p.Arg1088=)
2g.120988976G>TCA348171022GLI2c.3011G>T (p.Arg1004Leu)
c.3062G>T (p.Arg1021Leu)
c.*2110G>T (n.*2110G>T)
c.*2161G>T (n.*2161G>T)
c.3044G>T (p.Arg1015Leu)
c.2921G>T (p.Arg974Leu)
c.2867G>T (p.Arg956Leu)
c.2687G>T (p.Arg896Leu)
c.2636G>T (p.Arg879Leu)
c.3314G>T (p.Arg1105Leu)
c.2963G>T (p.Arg988Leu)
c.3263G>T (p.Arg1088Leu)
 dbSNP gnomAD v4
2g.120988977C>ACA428749665GLI2c.3012C>A (p.Arg1004=)
c.3063C>A (p.Arg1021=)
c.*2111C>A (n.*2111C>A)
c.*2162C>A (n.*2162C>A)
c.3045C>A (p.Arg1015=)
c.2922C>A (p.Arg974=)
c.2868C>A (p.Arg956=)
c.2688C>A (p.Arg896=)
c.2637C>A (p.Arg879=)
c.3315C>A (p.Arg1105=)
c.2964C>A (p.Arg988=)
c.3264C>A (p.Arg1088=)
 gnomAD v4
2g.120988977C>GCA428749666GLI2c.3012C>G (p.Arg1004=)
c.3063C>G (p.Arg1021=)
c.*2111C>G (n.*2111C>G)
c.*2162C>G (n.*2162C>G)
c.3045C>G (p.Arg1015=)
c.2922C>G (p.Arg974=)
c.2868C>G (p.Arg956=)
c.2688C>G (p.Arg896=)
c.2637C>G (p.Arg879=)
c.3315C>G (p.Arg1105=)
c.2964C>G (p.Arg988=)
c.3264C>G (p.Arg1088=)
2g.120988977C>TCA428749667GLI2c.3012C>T (p.Arg1004=)
c.3063C>T (p.Arg1021=)
c.*2111C>T (n.*2111C>T)
c.*2162C>T (n.*2162C>T)
c.3045C>T (p.Arg1015=)
c.2922C>T (p.Arg974=)
c.2868C>T (p.Arg956=)
c.2688C>T (p.Arg896=)
c.2637C>T (p.Arg879=)
c.3315C>T (p.Arg1105=)
c.2964C>T (p.Arg988=)
c.3264C>T (p.Arg1088=)
 gnomAD v4
2g.120988978G>ACA348171026GLI2c.3013G>A (p.Gly1005Ser)
c.3064G>A (p.Gly1022Ser)
c.*2112G>A (n.*2112G>A)
c.*2163G>A (n.*2163G>A)
c.3046G>A (p.Gly1016Ser)
c.2923G>A (p.Gly975Ser)
c.2869G>A (p.Gly957Ser)
c.2689G>A (p.Gly897Ser)
c.2638G>A (p.Gly880Ser)
c.3316G>A (p.Gly1106Ser)
c.2965G>A (p.Gly989Ser)
c.3265G>A (p.Gly1089Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.120988978G>CCA348171027GLI2c.3013G>C (p.Gly1005Arg)
c.3064G>C (p.Gly1022Arg)
c.*2112G>C (n.*2112G>C)
c.*2163G>C (n.*2163G>C)
c.3046G>C (p.Gly1016Arg)
c.2923G>C (p.Gly975Arg)
c.2869G>C (p.Gly957Arg)
c.2689G>C (p.Gly897Arg)
c.2638G>C (p.Gly880Arg)
c.3316G>C (p.Gly1106Arg)
c.2965G>C (p.Gly989Arg)
c.3265G>C (p.Gly1089Arg)
2g.120988978G=CA1283795393GLI2c.3013G= (p.Gly1005=)
c.3064G= (p.Gly1022=)
c.*2112G= (n.*2112G=)
c.*2163G= (n.*2163G=)
c.3046G= (p.Gly1016=)
c.2923G= (p.Gly975=)
c.2869G= (p.Gly957=)
c.2689G= (p.Gly897=)
c.2638G= (p.Gly880=)
c.3316G= (p.Gly1106=)
c.2965G= (p.Gly989=)
c.3265G= (p.Gly1089=)
2g.120988978G>TCA348171029GLI2c.3013G>T (p.Gly1005Cys)
c.3064G>T (p.Gly1022Cys)
c.*2112G>T (n.*2112G>T)
c.*2163G>T (n.*2163G>T)
c.3046G>T (p.Gly1016Cys)
c.2923G>T (p.Gly975Cys)
c.2869G>T (p.Gly957Cys)
c.2689G>T (p.Gly897Cys)
c.2638G>T (p.Gly880Cys)
c.3316G>T (p.Gly1106Cys)
c.2965G>T (p.Gly989Cys)
c.3265G>T (p.Gly1089Cys)
 gnomAD v4
2g.120988979G>ACA348171031GLI2c.3014G>A (p.Gly1005Asp)
c.3065G>A (p.Gly1022Asp)
c.*2113G>A (n.*2113G>A)
c.*2164G>A (n.*2164G>A)
c.3047G>A (p.Gly1016Asp)
c.2924G>A (p.Gly975Asp)
c.2870G>A (p.Gly957Asp)
c.2690G>A (p.Gly897Asp)
c.2639G>A (p.Gly880Asp)
c.3317G>A (p.Gly1106Asp)
c.2966G>A (p.Gly989Asp)
c.3266G>A (p.Gly1089Asp)
2g.120988979G>CCA348171033GLI2c.3014G>C (p.Gly1005Ala)
c.3065G>C (p.Gly1022Ala)
c.*2113G>C (n.*2113G>C)
c.*2164G>C (n.*2164G>C)
c.3047G>C (p.Gly1016Ala)
c.2924G>C (p.Gly975Ala)
c.2870G>C (p.Gly957Ala)
c.2690G>C (p.Gly897Ala)
c.2639G>C (p.Gly880Ala)
c.3317G>C (p.Gly1106Ala)
c.2966G>C (p.Gly989Ala)
c.3266G>C (p.Gly1089Ala)
2g.120988979G>TCA348171035GLI2c.3014G>T (p.Gly1005Val)
c.3065G>T (p.Gly1022Val)
c.*2113G>T (n.*2113G>T)
c.*2164G>T (n.*2164G>T)
c.3047G>T (p.Gly1016Val)
c.2924G>T (p.Gly975Val)
c.2870G>T (p.Gly957Val)
c.2690G>T (p.Gly897Val)
c.2639G>T (p.Gly880Val)
c.3317G>T (p.Gly1106Val)
c.2966G>T (p.Gly989Val)
c.3266G>T (p.Gly1089Val)
 gnomAD v4
2g.120988980C>ACA428749668GLI2c.3015C>A (p.Gly1005=)
c.3066C>A (p.Gly1022=)
c.*2114C>A (n.*2114C>A)
c.*2165C>A (n.*2165C>A)
c.3048C>A (p.Gly1016=)
c.2925C>A (p.Gly975=)
c.2871C>A (p.Gly957=)
c.2691C>A (p.Gly897=)
c.2640C>A (p.Gly880=)
c.3318C>A (p.Gly1106=)
c.2967C>A (p.Gly989=)
c.3267C>A (p.Gly1089=)
 gnomAD v4
2g.120988980C=CA1283795394GLI2c.3015C= (p.Gly1005=)
c.3066C= (p.Gly1022=)
c.*2114C= (n.*2114C=)
c.*2165C= (n.*2165C=)
c.3048C= (p.Gly1016=)
c.2925C= (p.Gly975=)
c.2871C= (p.Gly957=)
c.2691C= (p.Gly897=)
c.2640C= (p.Gly880=)
c.3318C= (p.Gly1106=)
c.2967C= (p.Gly989=)
c.3267C= (p.Gly1089=)
2g.120988980C>GCA428749670GLI2c.3015C>G (p.Gly1005=)
c.3066C>G (p.Gly1022=)
c.*2114C>G (n.*2114C>G)
c.*2165C>G (n.*2165C>G)
c.3048C>G (p.Gly1016=)
c.2925C>G (p.Gly975=)
c.2871C>G (p.Gly957=)
c.2691C>G (p.Gly897=)
c.2640C>G (p.Gly880=)
c.3318C>G (p.Gly1106=)
c.2967C>G (p.Gly989=)
c.3267C>G (p.Gly1089=)
 dbSNP gnomAD v3 gnomAD v4
2g.120988980C>TCA428749669GLI2c.3015C>T (p.Gly1005=)
c.3066C>T (p.Gly1022=)
c.*2114C>T (n.*2114C>T)
c.*2165C>T (n.*2165C>T)
c.3048C>T (p.Gly1016=)
c.2925C>T (p.Gly975=)
c.2871C>T (p.Gly957=)
c.2691C>T (p.Gly897=)
c.2640C>T (p.Gly880=)
c.3318C>T (p.Gly1106=)
c.2967C>T (p.Gly989=)
c.3267C>T (p.Gly1089=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.120988981G>ACA1852301GLI2c.3016G>A (p.Ala1006Thr)
c.3067G>A (p.Ala1023Thr)
c.*2115G>A (n.*2115G>A)
c.*2166G>A (n.*2166G>A)
c.3049G>A (p.Ala1017Thr)
c.2926G>A (p.Ala976Thr)
c.2872G>A (p.Ala958Thr)
c.2692G>A (p.Ala898Thr)
c.2641G>A (p.Ala881Thr)
c.3319G>A (p.Ala1107Thr)
c.2968G>A (p.Ala990Thr)
c.3268G>A (p.Ala1090Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.120988981G>CCA348171041GLI2c.3016G>C (p.Ala1006Pro)
c.3067G>C (p.Ala1023Pro)
c.*2115G>C (n.*2115G>C)
c.*2166G>C (n.*2166G>C)
c.3049G>C (p.Ala1017Pro)
c.2926G>C (p.Ala976Pro)
c.2872G>C (p.Ala958Pro)
c.2692G>C (p.Ala898Pro)
c.2641G>C (p.Ala881Pro)
c.3319G>C (p.Ala1107Pro)
c.2968G>C (p.Ala990Pro)
c.3268G>C (p.Ala1090Pro)
2g.120988981G=CA1283795395GLI2c.3016G= (p.Ala1006=)
c.3067G= (p.Ala1023=)
c.*2115G= (n.*2115G=)
c.*2166G= (n.*2166G=)
c.3049G= (p.Ala1017=)
c.2926G= (p.Ala976=)
c.2872G= (p.Ala958=)
c.2692G= (p.Ala898=)
c.2641G= (p.Ala881=)
c.3319G= (p.Ala1107=)
c.2968G= (p.Ala990=)
c.3268G= (p.Ala1090=)
2g.120988981G>TCA348171038GLI2c.3016G>T (p.Ala1006Ser)
c.3067G>T (p.Ala1023Ser)
c.*2115G>T (n.*2115G>T)
c.*2166G>T (n.*2166G>T)
c.3049G>T (p.Ala1017Ser)
c.2926G>T (p.Ala976Ser)
c.2872G>T (p.Ala958Ser)
c.2692G>T (p.Ala898Ser)
c.2641G>T (p.Ala881Ser)
c.3319G>T (p.Ala1107Ser)
c.2968G>T (p.Ala990Ser)
c.3268G>T (p.Ala1090Ser)
 gnomAD v4
2g.120988982C>ACA348171045GLI2c.3017C>A (p.Ala1006Asp)
c.3068C>A (p.Ala1023Asp)
c.*2116C>A (n.*2116C>A)
c.*2167C>A (n.*2167C>A)
c.3050C>A (p.Ala1017Asp)
c.2927C>A (p.Ala976Asp)
c.2873C>A (p.Ala958Asp)
c.2693C>A (p.Ala898Asp)
c.2642C>A (p.Ala881Asp)
c.3320C>A (p.Ala1107Asp)
c.2969C>A (p.Ala990Asp)
c.3269C>A (p.Ala1090Asp)
 gnomAD v4
2g.120988982C=CA1283795396GLI2c.3017C= (p.Ala1006=)
c.3068C= (p.Ala1023=)
c.*2116C= (n.*2116C=)
c.*2167C= (n.*2167C=)
c.3050C= (p.Ala1017=)
c.2927C= (p.Ala976=)
c.2873C= (p.Ala958=)
c.2693C= (p.Ala898=)
c.2642C= (p.Ala881=)
c.3320C= (p.Ala1107=)
c.2969C= (p.Ala990=)
c.3269C= (p.Ala1090=)
2g.120988982C>GCA54382079GLI2c.3017C>G (p.Ala1006Gly)
c.3068C>G (p.Ala1023Gly)
c.*2116C>G (n.*2116C>G)
c.*2167C>G (n.*2167C>G)
c.3050C>G (p.Ala1017Gly)
c.2927C>G (p.Ala976Gly)
c.2873C>G (p.Ala958Gly)
c.2693C>G (p.Ala898Gly)
c.2642C>G (p.Ala881Gly)
c.3320C>G (p.Ala1107Gly)
c.2969C>G (p.Ala990Gly)
c.3269C>G (p.Ala1090Gly)
 dbSNP
2g.120988982C>TCA348171047GLI2c.3017C>T (p.Ala1006Val)
c.3068C>T (p.Ala1023Val)
c.*2116C>T (n.*2116C>T)
c.*2167C>T (n.*2167C>T)
c.3050C>T (p.Ala1017Val)
c.2927C>T (p.Ala976Val)
c.2873C>T (p.Ala958Val)
c.2693C>T (p.Ala898Val)
c.2642C>T (p.Ala881Val)
c.3320C>T (p.Ala1107Val)
c.2969C>T (p.Ala990Val)
c.3269C>T (p.Ala1090Val)
2g.120988983C>ACA428749671GLI2c.3018C>A (p.Ala1006=)
c.3069C>A (p.Ala1023=)
c.*2117C>A (n.*2117C>A)
c.*2168C>A (n.*2168C>A)
c.3051C>A (p.Ala1017=)
c.2928C>A (p.Ala976=)
c.2874C>A (p.Ala958=)
c.2694C>A (p.Ala898=)
c.2643C>A (p.Ala881=)
c.3321C>A (p.Ala1107=)
c.2970C>A (p.Ala990=)
c.3270C>A (p.Ala1090=)
 gnomAD v4
2g.120988983C>GCA428749672GLI2c.3018C>G (p.Ala1006=)
c.3069C>G (p.Ala1023=)
c.*2117C>G (n.*2117C>G)
c.*2168C>G (n.*2168C>G)
c.3051C>G (p.Ala1017=)
c.2928C>G (p.Ala976=)
c.2874C>G (p.Ala958=)
c.2694C>G (p.Ala898=)
c.2643C>G (p.Ala881=)
c.3321C>G (p.Ala1107=)
c.2970C>G (p.Ala990=)
c.3270C>G (p.Ala1090=)
2g.120988983C>TCA428749673GLI2c.3018C>T (p.Ala1006=)
c.3069C>T (p.Ala1023=)
c.*2117C>T (n.*2117C>T)
c.*2168C>T (n.*2168C>T)
c.3051C>T (p.Ala1017=)
c.2928C>T (p.Ala976=)
c.2874C>T (p.Ala958=)
c.2694C>T (p.Ala898=)
c.2643C>T (p.Ala881=)
c.3321C>T (p.Ala1107=)
c.2970C>T (p.Ala990=)
c.3270C>T (p.Ala1090=)
2g.120988984T>ACA348171050GLI2c.3019T>A (p.Tyr1007Asn)
c.3070T>A (p.Tyr1024Asn)
c.*2118T>A (n.*2118T>A)
c.*2169T>A (n.*2169T>A)
c.3052T>A (p.Tyr1018Asn)
c.2929T>A (p.Tyr977Asn)
c.2875T>A (p.Tyr959Asn)
c.2695T>A (p.Tyr899Asn)
c.2644T>A (p.Tyr882Asn)
c.3322T>A (p.Tyr1108Asn)
c.2971T>A (p.Tyr991Asn)
c.3271T>A (p.Tyr1091Asn)
2g.120988984T>CCA348171053GLI2c.3019T>C (p.Tyr1007His)
c.3070T>C (p.Tyr1024His)
c.*2118T>C (n.*2118T>C)
c.*2169T>C (n.*2169T>C)
c.3052T>C (p.Tyr1018His)
c.2929T>C (p.Tyr977His)
c.2875T>C (p.Tyr959His)
c.2695T>C (p.Tyr899His)
c.2644T>C (p.Tyr882His)
c.3322T>C (p.Tyr1108His)
c.2971T>C (p.Tyr991His)
c.3271T>C (p.Tyr1091His)
 dbSNP gnomAD v4
2g.120988984T>GCA348171055GLI2c.3019T>G (p.Tyr1007Asp)
c.3070T>G (p.Tyr1024Asp)
c.*2118T>G (n.*2118T>G)
c.*2169T>G (n.*2169T>G)
c.3052T>G (p.Tyr1018Asp)
c.2929T>G (p.Tyr977Asp)
c.2875T>G (p.Tyr959Asp)
c.2695T>G (p.Tyr899Asp)
c.2644T>G (p.Tyr882Asp)
c.3322T>G (p.Tyr1108Asp)
c.2971T>G (p.Tyr991Asp)
c.3271T>G (p.Tyr1091Asp)
2g.120988985A=CA1283795397GLI2c.3020A= (p.Tyr1007=)
c.3071A= (p.Tyr1024=)
c.*2119A= (n.*2119A=)
c.*2170A= (n.*2170A=)
c.3053A= (p.Tyr1018=)
c.2930A= (p.Tyr977=)
c.2876A= (p.Tyr959=)
c.2696A= (p.Tyr899=)
c.2645A= (p.Tyr882=)
c.3323A= (p.Tyr1108=)
c.2972A= (p.Tyr991=)
c.3272A= (p.Tyr1091=)
2g.120988985A>CCA348171057GLI2c.3020A>C (p.Tyr1007Ser)
c.3071A>C (p.Tyr1024Ser)
c.*2119A>C (n.*2119A>C)
c.*2170A>C (n.*2170A>C)
c.3053A>C (p.Tyr1018Ser)
c.2930A>C (p.Tyr977Ser)
c.2876A>C (p.Tyr959Ser)
c.2696A>C (p.Tyr899Ser)
c.2645A>C (p.Tyr882Ser)
c.3323A>C (p.Tyr1108Ser)
c.2972A>C (p.Tyr991Ser)
c.3272A>C (p.Tyr1091Ser)
2g.120988985A>GCA348171062GLI2c.3020A>G (p.Tyr1007Cys)
c.3071A>G (p.Tyr1024Cys)
c.*2119A>G (n.*2119A>G)
c.*2170A>G (n.*2170A>G)
c.3053A>G (p.Tyr1018Cys)
c.2930A>G (p.Tyr977Cys)
c.2876A>G (p.Tyr959Cys)
c.2696A>G (p.Tyr899Cys)
c.2645A>G (p.Tyr882Cys)
c.3323A>G (p.Tyr1108Cys)
c.2972A>G (p.Tyr991Cys)
c.3272A>G (p.Tyr1091Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.120988985A>TCA348171060GLI2c.3020A>T (p.Tyr1007Phe)
c.3071A>T (p.Tyr1024Phe)
c.*2119A>T (n.*2119A>T)
c.*2170A>T (n.*2170A>T)
c.3053A>T (p.Tyr1018Phe)
c.2930A>T (p.Tyr977Phe)
c.2876A>T (p.Tyr959Phe)
c.2696A>T (p.Tyr899Phe)
c.2645A>T (p.Tyr882Phe)
c.3323A>T (p.Tyr1108Phe)
c.2972A>T (p.Tyr991Phe)
c.3272A>T (p.Tyr1091Phe)
2g.120988986C>ACA348171063GLI2c.3021C>A (p.Tyr1007Ter)
c.3072C>A (p.Tyr1024Ter)
c.*2120C>A (n.*2120C>A)
c.*2171C>A (n.*2171C>A)
c.3054C>A (p.Tyr1018Ter)
c.2931C>A (p.Tyr977Ter)
c.2877C>A (p.Tyr959Ter)
c.2697C>A (p.Tyr899Ter)
c.2646C>A (p.Tyr882Ter)
c.3324C>A (p.Tyr1108Ter)
c.2973C>A (p.Tyr991Ter)
c.3273C>A (p.Tyr1091Ter)
2g.120988986C>GCA348171064GLI2c.3021C>G (p.Tyr1007Ter)
c.3072C>G (p.Tyr1024Ter)
c.*2120C>G (n.*2120C>G)
c.*2171C>G (n.*2171C>G)
c.3054C>G (p.Tyr1018Ter)
c.2931C>G (p.Tyr977Ter)
c.2877C>G (p.Tyr959Ter)
c.2697C>G (p.Tyr899Ter)
c.2646C>G (p.Tyr882Ter)
c.3324C>G (p.Tyr1108Ter)
c.2973C>G (p.Tyr991Ter)
c.3273C>G (p.Tyr1091Ter)
2g.120988986C>TCA428749676GLI2c.3021C>T (p.Tyr1007=)
c.3072C>T (p.Tyr1024=)
c.*2120C>T (n.*2120C>T)
c.*2171C>T (n.*2171C>T)
c.3054C>T (p.Tyr1018=)
c.2931C>T (p.Tyr977=)
c.2877C>T (p.Tyr959=)
c.2697C>T (p.Tyr899=)
c.2646C>T (p.Tyr882=)
c.3324C>T (p.Tyr1108=)
c.2973C>T (p.Tyr991=)
c.3273C>T (p.Tyr1091=)
2g.120988987T>ACA348171065GLI2c.3022T>A (p.Ser1008Thr)
c.3073T>A (p.Ser1025Thr)
c.*2121T>A (n.*2121T>A)
c.*2172T>A (n.*2172T>A)
c.3055T>A (p.Ser1019Thr)
c.2932T>A (p.Ser978Thr)
c.2878T>A (p.Ser960Thr)
c.2698T>A (p.Ser900Thr)
c.2647T>A (p.Ser883Thr)
c.3325T>A (p.Ser1109Thr)
c.2974T>A (p.Ser992Thr)
c.3274T>A (p.Ser1092Thr)
2g.120988987T>CCA348171066GLI2c.3022T>C (p.Ser1008Pro)
c.3073T>C (p.Ser1025Pro)
c.*2121T>C (n.*2121T>C)
c.*2172T>C (n.*2172T>C)
c.3055T>C (p.Ser1019Pro)
c.2932T>C (p.Ser978Pro)
c.2878T>C (p.Ser960Pro)
c.2698T>C (p.Ser900Pro)
c.2647T>C (p.Ser883Pro)
c.3325T>C (p.Ser1109Pro)
c.2974T>C (p.Ser992Pro)
c.3274T>C (p.Ser1092Pro)
 gnomAD v4
2g.120988987T>GCA348171067GLI2c.3022T>G (p.Ser1008Ala)
c.3073T>G (p.Ser1025Ala)
c.*2121T>G (n.*2121T>G)
c.*2172T>G (n.*2172T>G)
c.3055T>G (p.Ser1019Ala)
c.2932T>G (p.Ser978Ala)
c.2878T>G (p.Ser960Ala)
c.2698T>G (p.Ser900Ala)
c.2647T>G (p.Ser883Ala)
c.3325T>G (p.Ser1109Ala)
c.2974T>G (p.Ser992Ala)
c.3274T>G (p.Ser1092Ala)
 dbSNP
2g.120988987T=CA1283795398GLI2c.3022T= (p.Ser1008=)
c.3073T= (p.Ser1025=)
c.*2121T= (n.*2121T=)
c.*2172T= (n.*2172T=)
c.3055T= (p.Ser1019=)
c.2932T= (p.Ser978=)
c.2878T= (p.Ser960=)
c.2698T= (p.Ser900=)
c.2647T= (p.Ser883=)
c.3325T= (p.Ser1109=)
c.2974T= (p.Ser992=)
c.3274T= (p.Ser1092=)
2g.120988988C>ACA348171069GLI2c.3023C>A (p.Ser1008Ter)
c.3074C>A (p.Ser1025Ter)
c.*2122C>A (n.*2122C>A)
c.*2173C>A (n.*2173C>A)
c.3056C>A (p.Ser1019Ter)
c.2933C>A (p.Ser978Ter)
c.2879C>A (p.Ser960Ter)
c.2699C>A (p.Ser900Ter)
c.2648C>A (p.Ser883Ter)
c.3326C>A (p.Ser1109Ter)
c.2975C>A (p.Ser992Ter)
c.3275C>A (p.Ser1092Ter)
 gnomAD v4
2g.120988988C=CA1283795399GLI2c.3023C= (p.Ser1008=)
c.3074C= (p.Ser1025=)
c.*2122C= (n.*2122C=)
c.*2173C= (n.*2173C=)
c.3056C= (p.Ser1019=)
c.2933C= (p.Ser978=)
c.2879C= (p.Ser960=)
c.2699C= (p.Ser900=)
c.2648C= (p.Ser883=)
c.3326C= (p.Ser1109=)
c.2975C= (p.Ser992=)
c.3275C= (p.Ser1092=)
2g.120988988C>GCA348171068GLI2c.3023C>G (p.Ser1008Trp)
c.3074C>G (p.Ser1025Trp)
c.*2122C>G (n.*2122C>G)
c.*2173C>G (n.*2173C>G)
c.3056C>G (p.Ser1019Trp)
c.2933C>G (p.Ser978Trp)
c.2879C>G (p.Ser960Trp)
c.2699C>G (p.Ser900Trp)
c.2648C>G (p.Ser883Trp)
c.3326C>G (p.Ser1109Trp)
c.2975C>G (p.Ser992Trp)
c.3275C>G (p.Ser1092Trp)
2g.120988988C>TCA54382121GLI2c.3023C>T (p.Ser1008Leu)
c.3074C>T (p.Ser1025Leu)
c.*2122C>T (n.*2122C>T)
c.*2173C>T (n.*2173C>T)
c.3056C>T (p.Ser1019Leu)
c.2933C>T (p.Ser978Leu)
c.2879C>T (p.Ser960Leu)
c.2699C>T (p.Ser900Leu)
c.2648C>T (p.Ser883Leu)
c.3326C>T (p.Ser1109Leu)
c.2975C>T (p.Ser992Leu)
c.3275C>T (p.Ser1092Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120988989G>ACA1852302GLI2c.3024G>A (p.Ser1008=)
c.3075G>A (p.Ser1025=)
c.*2123G>A (n.*2123G>A)
c.*2174G>A (n.*2174G>A)
c.3057G>A (p.Ser1019=)
c.2934G>A (p.Ser978=)
c.2880G>A (p.Ser960=)
c.2700G>A (p.Ser900=)
c.2649G>A (p.Ser883=)
c.3327G>A (p.Ser1109=)
c.2976G>A (p.Ser992=)
c.3276G>A (p.Ser1092=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120988989G>CCA428749677GLI2c.3024G>C (p.Ser1008=)
c.3075G>C (p.Ser1025=)
c.*2123G>C (n.*2123G>C)
c.*2174G>C (n.*2174G>C)
c.3057G>C (p.Ser1019=)
c.2934G>C (p.Ser978=)
c.2880G>C (p.Ser960=)
c.2700G>C (p.Ser900=)
c.2649G>C (p.Ser883=)
c.3327G>C (p.Ser1109=)
c.2976G>C (p.Ser992=)
c.3276G>C (p.Ser1092=)
2g.120988989G=CA1283795400GLI2c.3024G= (p.Ser1008=)
c.3075G= (p.Ser1025=)
c.*2123G= (n.*2123G=)
c.*2174G= (n.*2174G=)
c.3057G= (p.Ser1019=)
c.2934G= (p.Ser978=)
c.2880G= (p.Ser960=)
c.2700G= (p.Ser900=)
c.2649G= (p.Ser883=)
c.3327G= (p.Ser1109=)
c.2976G= (p.Ser992=)
c.3276G= (p.Ser1092=)
2g.120988989G>TCA428749678GLI2c.3024G>T (p.Ser1008=)
c.3075G>T (p.Ser1025=)
c.*2123G>T (n.*2123G>T)
c.*2174G>T (n.*2174G>T)
c.3057G>T (p.Ser1019=)
c.2934G>T (p.Ser978=)
c.2880G>T (p.Ser960=)
c.2700G>T (p.Ser900=)
c.2649G>T (p.Ser883=)
c.3327G>T (p.Ser1109=)
c.2976G>T (p.Ser992=)
c.3276G>T (p.Ser1092=)
 gnomAD v4
2g.120988990C>ACA348171072GLI2c.3025C>A (p.Pro1009Thr)
c.3076C>A (p.Pro1026Thr)
c.*2124C>A (n.*2124C>A)
c.*2175C>A (n.*2175C>A)
c.3058C>A (p.Pro1020Thr)
c.2935C>A (p.Pro979Thr)
c.2881C>A (p.Pro961Thr)
c.2701C>A (p.Pro901Thr)
c.2650C>A (p.Pro884Thr)
c.3328C>A (p.Pro1110Thr)
c.2977C>A (p.Pro993Thr)
c.3277C>A (p.Pro1093Thr)
 gnomAD v4
2g.120988990C>GCA348171070GLI2c.3025C>G (p.Pro1009Ala)
c.3076C>G (p.Pro1026Ala)
c.*2124C>G (n.*2124C>G)
c.*2175C>G (n.*2175C>G)
c.3058C>G (p.Pro1020Ala)
c.2935C>G (p.Pro979Ala)
c.2881C>G (p.Pro961Ala)
c.2701C>G (p.Pro901Ala)
c.2650C>G (p.Pro884Ala)
c.3328C>G (p.Pro1110Ala)
c.2977C>G (p.Pro993Ala)
c.3277C>G (p.Pro1093Ala)
 gnomAD v4
2g.120988990C>TCA348171071GLI2c.3025C>T (p.Pro1009Ser)
c.3076C>T (p.Pro1026Ser)
c.*2124C>T (n.*2124C>T)
c.*2175C>T (n.*2175C>T)
c.3058C>T (p.Pro1020Ser)
c.2935C>T (p.Pro979Ser)
c.2881C>T (p.Pro961Ser)
c.2701C>T (p.Pro901Ser)
c.2650C>T (p.Pro884Ser)
c.3328C>T (p.Pro1110Ser)
c.2977C>T (p.Pro993Ser)
c.3277C>T (p.Pro1093Ser)
 gnomAD v4
2g.120988991C>ACA348171073GLI2c.3026C>A (p.Pro1009His)
c.3077C>A (p.Pro1026His)
c.*2125C>A (n.*2125C>A)
c.*2176C>A (n.*2176C>A)
c.3059C>A (p.Pro1020His)
c.2936C>A (p.Pro979His)
c.2882C>A (p.Pro961His)
c.2702C>A (p.Pro901His)
c.2651C>A (p.Pro884His)
c.3329C>A (p.Pro1110His)
c.2978C>A (p.Pro993His)
c.3278C>A (p.Pro1093His)
2g.120988991C>GCA348171074GLI2c.3026C>G (p.Pro1009Arg)
c.3077C>G (p.Pro1026Arg)
c.*2125C>G (n.*2125C>G)
c.*2176C>G (n.*2176C>G)
c.3059C>G (p.Pro1020Arg)
c.2936C>G (p.Pro979Arg)
c.2882C>G (p.Pro961Arg)
c.2702C>G (p.Pro901Arg)
c.2651C>G (p.Pro884Arg)
c.3329C>G (p.Pro1110Arg)
c.2978C>G (p.Pro993Arg)
c.3278C>G (p.Pro1093Arg)
 gnomAD v4
2g.120988991C>TCA348171075GLI2c.3026C>T (p.Pro1009Leu)
c.3077C>T (p.Pro1026Leu)
c.*2125C>T (n.*2125C>T)
c.*2176C>T (n.*2176C>T)
c.3059C>T (p.Pro1020Leu)
c.2936C>T (p.Pro979Leu)
c.2882C>T (p.Pro961Leu)
c.2702C>T (p.Pro901Leu)
c.2651C>T (p.Pro884Leu)
c.3329C>T (p.Pro1110Leu)
c.2978C>T (p.Pro993Leu)
c.3278C>T (p.Pro1093Leu)
 gnomAD v4
2g.120988992C>ACA428749681GLI2c.3027C>A (p.Pro1009=)
c.3078C>A (p.Pro1026=)
c.*2126C>A (n.*2126C>A)
c.*2177C>A (n.*2177C>A)
c.3060C>A (p.Pro1020=)
c.2937C>A (p.Pro979=)
c.2883C>A (p.Pro961=)
c.2703C>A (p.Pro901=)
c.2652C>A (p.Pro884=)
c.3330C>A (p.Pro1110=)
c.2979C>A (p.Pro993=)
c.3279C>A (p.Pro1093=)
2g.120988992C=CA1283795401GLI2c.3027C= (p.Pro1009=)
c.3078C= (p.Pro1026=)
c.*2126C= (n.*2126C=)
c.*2177C= (n.*2177C=)
c.3060C= (p.Pro1020=)
c.2937C= (p.Pro979=)
c.2883C= (p.Pro961=)
c.2703C= (p.Pro901=)
c.2652C= (p.Pro884=)
c.3330C= (p.Pro1110=)
c.2979C= (p.Pro993=)
c.3279C= (p.Pro1093=)
2g.120988992C>GCA428749684GLI2c.3027C>G (p.Pro1009=)
c.3078C>G (p.Pro1026=)
c.*2126C>G (n.*2126C>G)
c.*2177C>G (n.*2177C>G)
c.3060C>G (p.Pro1020=)
c.2937C>G (p.Pro979=)
c.2883C>G (p.Pro961=)
c.2703C>G (p.Pro901=)
c.2652C>G (p.Pro884=)
c.3330C>G (p.Pro1110=)
c.2979C>G (p.Pro993=)
c.3279C>G (p.Pro1093=)
 gnomAD v4
2g.120988992C>TCA428749683GLI2c.3027C>T (p.Pro1009=)
c.3078C>T (p.Pro1026=)
c.*2126C>T (n.*2126C>T)
c.*2177C>T (n.*2177C>T)
c.3060C>T (p.Pro1020=)
c.2937C>T (p.Pro979=)
c.2883C>T (p.Pro961=)
c.2703C>T (p.Pro901=)
c.2652C>T (p.Pro884=)
c.3330C>T (p.Pro1110=)
c.2979C>T (p.Pro993=)
c.3279C>T (p.Pro1093=)
 dbSNP gnomAD v2
2g.120988993C>ACA428749685GLI2c.3028C>A (p.Arg1010=)
c.3079C>A (p.Arg1027=)
c.*2127C>A (n.*2127C>A)
c.*2178C>A (n.*2178C>A)
c.3061C>A (p.Arg1021=)
c.2938C>A (p.Arg980=)
c.2884C>A (p.Arg962=)
c.2704C>A (p.Arg902=)
c.2653C>A (p.Arg885=)
c.3331C>A (p.Arg1111=)
c.2980C>A (p.Arg994=)
c.3280C>A (p.Arg1094=)
 gnomAD v4
2g.120988993C=CA1283795402GLI2c.3028C= (p.Arg1010=)
c.3079C= (p.Arg1027=)
c.*2127C= (n.*2127C=)
c.*2178C= (n.*2178C=)
c.3061C= (p.Arg1021=)
c.2938C= (p.Arg980=)
c.2884C= (p.Arg962=)
c.2704C= (p.Arg902=)
c.2653C= (p.Arg885=)
c.3331C= (p.Arg1111=)
c.2980C= (p.Arg994=)
c.3280C= (p.Arg1094=)
2g.120988993C>GCA348171076GLI2c.3028C>G (p.Arg1010Gly)
c.3079C>G (p.Arg1027Gly)
c.*2127C>G (n.*2127C>G)
c.*2178C>G (n.*2178C>G)
c.3061C>G (p.Arg1021Gly)
c.2938C>G (p.Arg980Gly)
c.2884C>G (p.Arg962Gly)
c.2704C>G (p.Arg902Gly)
c.2653C>G (p.Arg885Gly)
c.3331C>G (p.Arg1111Gly)
c.2980C>G (p.Arg994Gly)
c.3280C>G (p.Arg1094Gly)
2g.120988993C>TCA348171077GLI2c.3028C>T (p.Arg1010Trp)
c.3079C>T (p.Arg1027Trp)
c.*2127C>T (n.*2127C>T)
c.*2178C>T (n.*2178C>T)
c.3061C>T (p.Arg1021Trp)
c.2938C>T (p.Arg980Trp)
c.2884C>T (p.Arg962Trp)
c.2704C>T (p.Arg902Trp)
c.2653C>T (p.Arg885Trp)
c.3331C>T (p.Arg1111Trp)
c.2980C>T (p.Arg994Trp)
c.3280C>T (p.Arg1094Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.120988994G>ACA1852303GLI2c.3029G>A (p.Arg1010Gln)
c.3080G>A (p.Arg1027Gln)
c.*2128G>A (n.*2128G>A)
c.*2179G>A (n.*2179G>A)
c.3062G>A (p.Arg1021Gln)
c.2939G>A (p.Arg980Gln)
c.2885G>A (p.Arg962Gln)
c.2705G>A (p.Arg902Gln)
c.2654G>A (p.Arg885Gln)
c.3332G>A (p.Arg1111Gln)
c.2981G>A (p.Arg994Gln)
c.3281G>A (p.Arg1094Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120988994G>CCA348171078GLI2c.3029G>C (p.Arg1010Pro)
c.3080G>C (p.Arg1027Pro)
c.*2128G>C (n.*2128G>C)
c.*2179G>C (n.*2179G>C)
c.3062G>C (p.Arg1021Pro)
c.2939G>C (p.Arg980Pro)
c.2885G>C (p.Arg962Pro)
c.2705G>C (p.Arg902Pro)
c.2654G>C (p.Arg885Pro)
c.3332G>C (p.Arg1111Pro)
c.2981G>C (p.Arg994Pro)
c.3281G>C (p.Arg1094Pro)
2g.120988994G=CA1283795403GLI2c.3029G= (p.Arg1010=)
c.3080G= (p.Arg1027=)
c.*2128G= (n.*2128G=)
c.*2179G= (n.*2179G=)
c.3062G= (p.Arg1021=)
c.2939G= (p.Arg980=)
c.2885G= (p.Arg962=)
c.2705G= (p.Arg902=)
c.2654G= (p.Arg885=)
c.3332G= (p.Arg1111=)
c.2981G= (p.Arg994=)
c.3281G= (p.Arg1094=)
2g.120988994G>TCA348171079GLI2c.3029G>T (p.Arg1010Leu)
c.3080G>T (p.Arg1027Leu)
c.*2128G>T (n.*2128G>T)
c.*2179G>T (n.*2179G>T)
c.3062G>T (p.Arg1021Leu)
c.2939G>T (p.Arg980Leu)
c.2885G>T (p.Arg962Leu)
c.2705G>T (p.Arg902Leu)
c.2654G>T (p.Arg885Leu)
c.3332G>T (p.Arg1111Leu)
c.2981G>T (p.Arg994Leu)
c.3281G>T (p.Arg1094Leu)
 gnomAD v4
2g.120988995G>ACA1852304GLI2c.3030G>A (p.Arg1010=)
c.3081G>A (p.Arg1027=)
c.*2129G>A (n.*2129G>A)
c.*2180G>A (n.*2180G>A)
c.3063G>A (p.Arg1021=)
c.2940G>A (p.Arg980=)
c.2886G>A (p.Arg962=)
c.2706G>A (p.Arg902=)
c.2655G>A (p.Arg885=)
c.3333G>A (p.Arg1111=)
c.2982G>A (p.Arg994=)
c.3282G>A (p.Arg1094=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120988995G>CCA428749687GLI2c.3030G>C (p.Arg1010=)
c.3081G>C (p.Arg1027=)
c.*2129G>C (n.*2129G>C)
c.*2180G>C (n.*2180G>C)
c.3063G>C (p.Arg1021=)
c.2940G>C (p.Arg980=)
c.2886G>C (p.Arg962=)
c.2706G>C (p.Arg902=)
c.2655G>C (p.Arg885=)
c.3333G>C (p.Arg1111=)
c.2982G>C (p.Arg994=)
c.3282G>C (p.Arg1094=)
 gnomAD v4
2g.120988995G=CA1283795404GLI2c.3030G= (p.Arg1010=)
c.3081G= (p.Arg1027=)
c.*2129G= (n.*2129G=)
c.*2180G= (n.*2180G=)
c.3063G= (p.Arg1021=)
c.2940G= (p.Arg980=)
c.2886G= (p.Arg962=)
c.2706G= (p.Arg902=)
c.2655G= (p.Arg885=)
c.3333G= (p.Arg1111=)
c.2982G= (p.Arg994=)
c.3282G= (p.Arg1094=)
2g.120988995G>TCA428749688GLI2c.3030G>T (p.Arg1010=)
c.3081G>T (p.Arg1027=)
c.*2129G>T (n.*2129G>T)
c.*2180G>T (n.*2180G>T)
c.3063G>T (p.Arg1021=)
c.2940G>T (p.Arg980=)
c.2886G>T (p.Arg962=)
c.2706G>T (p.Arg902=)
c.2655G>T (p.Arg885=)
c.3333G>T (p.Arg1111=)
c.2982G>T (p.Arg994=)
c.3282G>T (p.Arg1094=)
 gnomAD v4
2g.120988996C>ACA1852305GLI2c.3031C>A (p.Pro1011Thr)
c.3082C>A (p.Pro1028Thr)
c.*2130C>A (n.*2130C>A)
c.*2181C>A (n.*2181C>A)
c.3064C>A (p.Pro1022Thr)
c.2941C>A (p.Pro981Thr)
c.2887C>A (p.Pro963Thr)
c.2707C>A (p.Pro903Thr)
c.2656C>A (p.Pro886Thr)
c.3334C>A (p.Pro1112Thr)
c.2983C>A (p.Pro995Thr)
c.3283C>A (p.Pro1095Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120988996C=CA1283795405GLI2c.3031C= (p.Pro1011=)
c.3082C= (p.Pro1028=)
c.*2130C= (n.*2130C=)
c.*2181C= (n.*2181C=)
c.3064C= (p.Pro1022=)
c.2941C= (p.Pro981=)
c.2887C= (p.Pro963=)
c.2707C= (p.Pro903=)
c.2656C= (p.Pro886=)
c.3334C= (p.Pro1112=)
c.2983C= (p.Pro995=)
c.3283C= (p.Pro1095=)
2g.120988996C>GCA348171081GLI2c.3031C>G (p.Pro1011Ala)
c.3082C>G (p.Pro1028Ala)
c.*2130C>G (n.*2130C>G)
c.*2181C>G (n.*2181C>G)
c.3064C>G (p.Pro1022Ala)
c.2941C>G (p.Pro981Ala)
c.2887C>G (p.Pro963Ala)
c.2707C>G (p.Pro903Ala)
c.2656C>G (p.Pro886Ala)
c.3334C>G (p.Pro1112Ala)
c.2983C>G (p.Pro995Ala)
c.3283C>G (p.Pro1095Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120988996C>TCA348171080GLI2c.3031C>T (p.Pro1011Ser)
c.3082C>T (p.Pro1028Ser)
c.*2130C>T (n.*2130C>T)
c.*2181C>T (n.*2181C>T)
c.3064C>T (p.Pro1022Ser)
c.2941C>T (p.Pro981Ser)
c.2887C>T (p.Pro963Ser)
c.2707C>T (p.Pro903Ser)
c.2656C>T (p.Pro886Ser)
c.3334C>T (p.Pro1112Ser)
c.2983C>T (p.Pro995Ser)
c.3283C>T (p.Pro1095Ser)
 gnomAD v4
2g.120988997C>ACA348171082GLI2c.3032C>A (p.Pro1011Gln)
c.3083C>A (p.Pro1028Gln)
c.*2131C>A (n.*2131C>A)
c.*2182C>A (n.*2182C>A)
c.3065C>A (p.Pro1022Gln)
c.2942C>A (p.Pro981Gln)
c.2888C>A (p.Pro963Gln)
c.2708C>A (p.Pro903Gln)
c.2657C>A (p.Pro886Gln)
c.3335C>A (p.Pro1112Gln)
c.2984C>A (p.Pro995Gln)
c.3284C>A (p.Pro1095Gln)
2g.120988997C>GCA348171083GLI2c.3032C>G (p.Pro1011Arg)
c.3083C>G (p.Pro1028Arg)
c.*2131C>G (n.*2131C>G)
c.*2182C>G (n.*2182C>G)
c.3065C>G (p.Pro1022Arg)
c.2942C>G (p.Pro981Arg)
c.2888C>G (p.Pro963Arg)
c.2708C>G (p.Pro903Arg)
c.2657C>G (p.Pro886Arg)
c.3335C>G (p.Pro1112Arg)
c.2984C>G (p.Pro995Arg)
c.3284C>G (p.Pro1095Arg)
2g.120988997C>TCA348171084GLI2c.3032C>T (p.Pro1011Leu)
c.3083C>T (p.Pro1028Leu)
c.*2131C>T (n.*2131C>T)
c.*2182C>T (n.*2182C>T)
c.3065C>T (p.Pro1022Leu)
c.2942C>T (p.Pro981Leu)
c.2888C>T (p.Pro963Leu)
c.2708C>T (p.Pro903Leu)
c.2657C>T (p.Pro886Leu)
c.3335C>T (p.Pro1112Leu)
c.2984C>T (p.Pro995Leu)
c.3284C>T (p.Pro1095Leu)
 ClinVar COSMIC
2g.120988998G>ACA428749693GLI2c.3033G>A (p.Pro1011=)
c.3084G>A (p.Pro1028=)
c.*2132G>A (n.*2132G>A)
c.*2183G>A (n.*2183G>A)
c.3066G>A (p.Pro1022=)
c.2943G>A (p.Pro981=)
c.2889G>A (p.Pro963=)
c.2709G>A (p.Pro903=)
c.2658G>A (p.Pro886=)
c.3336G>A (p.Pro1112=)
c.2985G>A (p.Pro995=)
c.3285G>A (p.Pro1095=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120988998G>CCA428749694GLI2c.3033G>C (p.Pro1011=)
c.3084G>C (p.Pro1028=)
c.*2132G>C (n.*2132G>C)
c.*2183G>C (n.*2183G>C)
c.3066G>C (p.Pro1022=)
c.2943G>C (p.Pro981=)
c.2889G>C (p.Pro963=)
c.2709G>C (p.Pro903=)
c.2658G>C (p.Pro886=)
c.3336G>C (p.Pro1112=)
c.2985G>C (p.Pro995=)
c.3285G>C (p.Pro1095=)
2g.120988998G=CA1283795406GLI2c.3033G= (p.Pro1011=)
c.3084G= (p.Pro1028=)
c.*2132G= (n.*2132G=)
c.*2183G= (n.*2183G=)
c.3066G= (p.Pro1022=)
c.2943G= (p.Pro981=)
c.2889G= (p.Pro963=)
c.2709G= (p.Pro903=)
c.2658G= (p.Pro886=)
c.3336G= (p.Pro1112=)
c.2985G= (p.Pro995=)
c.3285G= (p.Pro1095=)
2g.120988998G>TCA428749695GLI2c.3033G>T (p.Pro1011=)
c.3084G>T (p.Pro1028=)
c.*2132G>T (n.*2132G>T)
c.*2183G>T (n.*2183G>T)
c.3066G>T (p.Pro1022=)
c.2943G>T (p.Pro981=)
c.2889G>T (p.Pro963=)
c.2709G>T (p.Pro903=)
c.2658G>T (p.Pro886=)
c.3336G>T (p.Pro1112=)
c.2985G>T (p.Pro995=)
c.3285G>T (p.Pro1095=)
 gnomAD v4
2g.120988999C>ACA348171085GLI2c.3034C>A (p.Pro1012Thr)
c.3085C>A (p.Pro1029Thr)
c.*2133C>A (n.*2133C>A)
c.*2184C>A (n.*2184C>A)
c.3067C>A (p.Pro1023Thr)
c.2944C>A (p.Pro982Thr)
c.2890C>A (p.Pro964Thr)
c.2710C>A (p.Pro904Thr)
c.2659C>A (p.Pro887Thr)
c.3337C>A (p.Pro1113Thr)
c.2986C>A (p.Pro996Thr)
c.3286C>A (p.Pro1096Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.120988999C=CA1283795407GLI2c.3034C= (p.Pro1012=)
c.3085C= (p.Pro1029=)
c.*2133C= (n.*2133C=)
c.*2184C= (n.*2184C=)
c.3067C= (p.Pro1023=)
c.2944C= (p.Pro982=)
c.2890C= (p.Pro964=)
c.2710C= (p.Pro904=)
c.2659C= (p.Pro887=)
c.3337C= (p.Pro1113=)
c.2986C= (p.Pro996=)
c.3286C= (p.Pro1096=)
2g.120988999C>GCA348171086GLI2c.3034C>G (p.Pro1012Ala)
c.3085C>G (p.Pro1029Ala)
c.*2133C>G (n.*2133C>G)
c.*2184C>G (n.*2184C>G)
c.3067C>G (p.Pro1023Ala)
c.2944C>G (p.Pro982Ala)
c.2890C>G (p.Pro964Ala)
c.2710C>G (p.Pro904Ala)
c.2659C>G (p.Pro887Ala)
c.3337C>G (p.Pro1113Ala)
c.2986C>G (p.Pro996Ala)
c.3286C>G (p.Pro1096Ala)
2g.120988999C>TCA1852306GLI2c.3034C>T (p.Pro1012Ser)
c.3085C>T (p.Pro1029Ser)
c.*2133C>T (n.*2133C>T)
c.*2184C>T (n.*2184C>T)
c.3067C>T (p.Pro1023Ser)
c.2944C>T (p.Pro982Ser)
c.2890C>T (p.Pro964Ser)
c.2710C>T (p.Pro904Ser)
c.2659C>T (p.Pro887Ser)
c.3337C>T (p.Pro1113Ser)
c.2986C>T (p.Pro996Ser)
c.3286C>T (p.Pro1096Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989000C>ACA348171087GLI2c.3035C>A (p.Pro1012His)
c.3086C>A (p.Pro1029His)
c.*2134C>A (n.*2134C>A)
c.*2185C>A (n.*2185C>A)
c.3068C>A (p.Pro1023His)
c.2945C>A (p.Pro982His)
c.2891C>A (p.Pro964His)
c.2711C>A (p.Pro904His)
c.2660C>A (p.Pro887His)
c.3338C>A (p.Pro1113His)
c.2987C>A (p.Pro996His)
c.3287C>A (p.Pro1096His)
2g.120989000C=CA1283795408GLI2c.3035C= (p.Pro1012=)
c.3086C= (p.Pro1029=)
c.*2134C= (n.*2134C=)
c.*2185C= (n.*2185C=)
c.3068C= (p.Pro1023=)
c.2945C= (p.Pro982=)
c.2891C= (p.Pro964=)
c.2711C= (p.Pro904=)
c.2660C= (p.Pro887=)
c.3338C= (p.Pro1113=)
c.2987C= (p.Pro996=)
c.3287C= (p.Pro1096=)
2g.120989000C>GCA348171088GLI2c.3035C>G (p.Pro1012Arg)
c.3086C>G (p.Pro1029Arg)
c.*2134C>G (n.*2134C>G)
c.*2185C>G (n.*2185C>G)
c.3068C>G (p.Pro1023Arg)
c.2945C>G (p.Pro982Arg)
c.2891C>G (p.Pro964Arg)
c.2711C>G (p.Pro904Arg)
c.2660C>G (p.Pro887Arg)
c.3338C>G (p.Pro1113Arg)
c.2987C>G (p.Pro996Arg)
c.3287C>G (p.Pro1096Arg)
2g.120989000C>TCA1852307GLI2c.3035C>T (p.Pro1012Leu)
c.3086C>T (p.Pro1029Leu)
c.*2134C>T (n.*2134C>T)
c.*2185C>T (n.*2185C>T)
c.3068C>T (p.Pro1023Leu)
c.2945C>T (p.Pro982Leu)
c.2891C>T (p.Pro964Leu)
c.2711C>T (p.Pro904Leu)
c.2660C>T (p.Pro887Leu)
c.3338C>T (p.Pro1113Leu)
c.2987C>T (p.Pro996Leu)
c.3287C>T (p.Pro1096Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989001T>ACA428749700GLI2c.3036T>A (p.Pro1012=)
c.3087T>A (p.Pro1029=)
c.*2135T>A (n.*2135T>A)
c.*2186T>A (n.*2186T>A)
c.3069T>A (p.Pro1023=)
c.2946T>A (p.Pro982=)
c.2892T>A (p.Pro964=)
c.2712T>A (p.Pro904=)
c.2661T>A (p.Pro887=)
c.3339T>A (p.Pro1113=)
c.2988T>A (p.Pro996=)
c.3288T>A (p.Pro1096=)
2g.120989001T>CCA428749701GLI2c.3036T>C (p.Pro1012=)
c.3087T>C (p.Pro1029=)
c.*2135T>C (n.*2135T>C)
c.*2186T>C (n.*2186T>C)
c.3069T>C (p.Pro1023=)
c.2946T>C (p.Pro982=)
c.2892T>C (p.Pro964=)
c.2712T>C (p.Pro904=)
c.2661T>C (p.Pro887=)
c.3339T>C (p.Pro1113=)
c.2988T>C (p.Pro996=)
c.3288T>C (p.Pro1096=)
 dbSNP
2g.120989001T>GCA428749702GLI2c.3036T>G (p.Pro1012=)
c.3087T>G (p.Pro1029=)
c.*2135T>G (n.*2135T>G)
c.*2186T>G (n.*2186T>G)
c.3069T>G (p.Pro1023=)
c.2946T>G (p.Pro982=)
c.2892T>G (p.Pro964=)
c.2712T>G (p.Pro904=)
c.2661T>G (p.Pro887=)
c.3339T>G (p.Pro1113=)
c.2988T>G (p.Pro996=)
c.3288T>G (p.Pro1096=)
2g.120989002A=CA1283795409GLI2c.3037A= (p.Ser1013=)
c.3088A= (p.Ser1030=)
c.*2136A= (n.*2136A=)
c.*2187A= (n.*2187A=)
c.3070A= (p.Ser1024=)
c.2947A= (p.Ser983=)
c.2893A= (p.Ser965=)
c.2713A= (p.Ser905=)
c.2662A= (p.Ser888=)
c.3340A= (p.Ser1114=)
c.2989A= (p.Ser997=)
c.3289A= (p.Ser1097=)
2g.120989002A>CCA348171089GLI2c.3037A>C (p.Ser1013Arg)
c.3088A>C (p.Ser1030Arg)
c.*2136A>C (n.*2136A>C)
c.*2187A>C (n.*2187A>C)
c.3070A>C (p.Ser1024Arg)
c.2947A>C (p.Ser983Arg)
c.2893A>C (p.Ser965Arg)
c.2713A>C (p.Ser905Arg)
c.2662A>C (p.Ser888Arg)
c.3340A>C (p.Ser1114Arg)
c.2989A>C (p.Ser997Arg)
c.3289A>C (p.Ser1097Arg)
2g.120989002A>GCA348171090GLI2c.3037A>G (p.Ser1013Gly)
c.3088A>G (p.Ser1030Gly)
c.*2136A>G (n.*2136A>G)
c.*2187A>G (n.*2187A>G)
c.3070A>G (p.Ser1024Gly)
c.2947A>G (p.Ser983Gly)
c.2893A>G (p.Ser965Gly)
c.2713A>G (p.Ser905Gly)
c.2662A>G (p.Ser888Gly)
c.3340A>G (p.Ser1114Gly)
c.2989A>G (p.Ser997Gly)
c.3289A>G (p.Ser1097Gly)
 ClinVar dbSNP
2g.120989002A>TCA348171091GLI2c.3037A>T (p.Ser1013Cys)
c.3088A>T (p.Ser1030Cys)
c.*2136A>T (n.*2136A>T)
c.*2187A>T (n.*2187A>T)
c.3070A>T (p.Ser1024Cys)
c.2947A>T (p.Ser983Cys)
c.2893A>T (p.Ser965Cys)
c.2713A>T (p.Ser905Cys)
c.2662A>T (p.Ser888Cys)
c.3340A>T (p.Ser1114Cys)
c.2989A>T (p.Ser997Cys)
c.3289A>T (p.Ser1097Cys)
2g.120989003G>ACA348171099GLI2c.3038G>A (p.Ser1013Asn)
c.3089G>A (p.Ser1030Asn)
c.*2137G>A (n.*2137G>A)
c.*2188G>A (n.*2188G>A)
c.3071G>A (p.Ser1024Asn)
c.2948G>A (p.Ser983Asn)
c.2894G>A (p.Ser965Asn)
c.2714G>A (p.Ser905Asn)
c.2663G>A (p.Ser888Asn)
c.3341G>A (p.Ser1114Asn)
c.2990G>A (p.Ser997Asn)
c.3290G>A (p.Ser1097Asn)
 gnomAD v4
2g.120989003G>CCA348171096GLI2c.3038G>C (p.Ser1013Thr)
c.3089G>C (p.Ser1030Thr)
c.*2137G>C (n.*2137G>C)
c.*2188G>C (n.*2188G>C)
c.3071G>C (p.Ser1024Thr)
c.2948G>C (p.Ser983Thr)
c.2894G>C (p.Ser965Thr)
c.2714G>C (p.Ser905Thr)
c.2663G>C (p.Ser888Thr)
c.3341G>C (p.Ser1114Thr)
c.2990G>C (p.Ser997Thr)
c.3290G>C (p.Ser1097Thr)
 gnomAD v4
2g.120989003G>TCA348171094GLI2c.3038G>T (p.Ser1013Ile)
c.3089G>T (p.Ser1030Ile)
c.*2137G>T (n.*2137G>T)
c.*2188G>T (n.*2188G>T)
c.3071G>T (p.Ser1024Ile)
c.2948G>T (p.Ser983Ile)
c.2894G>T (p.Ser965Ile)
c.2714G>T (p.Ser905Ile)
c.2663G>T (p.Ser888Ile)
c.3341G>T (p.Ser1114Ile)
c.2990G>T (p.Ser997Ile)
c.3290G>T (p.Ser1097Ile)
 gnomAD v4
2g.120989004C>ACA348171105GLI2c.3039C>A (p.Ser1013Arg)
c.3090C>A (p.Ser1030Arg)
c.*2138C>A (n.*2138C>A)
c.*2189C>A (n.*2189C>A)
c.3072C>A (p.Ser1024Arg)
c.2949C>A (p.Ser983Arg)
c.2895C>A (p.Ser965Arg)
c.2715C>A (p.Ser905Arg)
c.2664C>A (p.Ser888Arg)
c.3342C>A (p.Ser1114Arg)
c.2991C>A (p.Ser997Arg)
c.3291C>A (p.Ser1097Arg)
2g.120989004C=CA1283795410GLI2c.3039C= (p.Ser1013=)
c.3090C= (p.Ser1030=)
c.*2138C= (n.*2138C=)
c.*2189C= (n.*2189C=)
c.3072C= (p.Ser1024=)
c.2949C= (p.Ser983=)
c.2895C= (p.Ser965=)
c.2715C= (p.Ser905=)
c.2664C= (p.Ser888=)
c.3342C= (p.Ser1114=)
c.2991C= (p.Ser997=)
c.3291C= (p.Ser1097=)
2g.120989004C>GCA348171102GLI2c.3039C>G (p.Ser1013Arg)
c.3090C>G (p.Ser1030Arg)
c.*2138C>G (n.*2138C>G)
c.*2189C>G (n.*2189C>G)
c.3072C>G (p.Ser1024Arg)
c.2949C>G (p.Ser983Arg)
c.2895C>G (p.Ser965Arg)
c.2715C>G (p.Ser905Arg)
c.2664C>G (p.Ser888Arg)
c.3342C>G (p.Ser1114Arg)
c.2991C>G (p.Ser997Arg)
c.3291C>G (p.Ser1097Arg)
 gnomAD v4
2g.120989004C>TCA428749707GLI2c.3039C>T (p.Ser1013=)
c.3090C>T (p.Ser1030=)
c.*2138C>T (n.*2138C>T)
c.*2189C>T (n.*2189C>T)
c.3072C>T (p.Ser1024=)
c.2949C>T (p.Ser983=)
c.2895C>T (p.Ser965=)
c.2715C>T (p.Ser905=)
c.2664C>T (p.Ser888=)
c.3342C>T (p.Ser1114=)
c.2991C>T (p.Ser997=)
c.3291C>T (p.Ser1097=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989005A=CA1283795411GLI2c.3040A= (p.Ile1014=)
c.3091A= (p.Ile1031=)
c.*2139A= (n.*2139A=)
c.*2190A= (n.*2190A=)
c.3073A= (p.Ile1025=)
c.2950A= (p.Ile984=)
c.2896A= (p.Ile966=)
c.2716A= (p.Ile906=)
c.2665A= (p.Ile889=)
c.3343A= (p.Ile1115=)
c.2992A= (p.Ile998=)
c.3292A= (p.Ile1098=)
2g.120989005A>CCA348171108GLI2c.3040A>C (p.Ile1014Leu)
c.3091A>C (p.Ile1031Leu)
c.*2139A>C (n.*2139A>C)
c.*2190A>C (n.*2190A>C)
c.3073A>C (p.Ile1025Leu)
c.2950A>C (p.Ile984Leu)
c.2896A>C (p.Ile966Leu)
c.2716A>C (p.Ile906Leu)
c.2665A>C (p.Ile889Leu)
c.3343A>C (p.Ile1115Leu)
c.2992A>C (p.Ile998Leu)
c.3292A>C (p.Ile1098Leu)
2g.120989005A>GCA1852308GLI2c.3040A>G (p.Ile1014Val)
c.3091A>G (p.Ile1031Val)
c.*2139A>G (n.*2139A>G)
c.*2190A>G (n.*2190A>G)
c.3073A>G (p.Ile1025Val)
c.2950A>G (p.Ile984Val)
c.2896A>G (p.Ile966Val)
c.2716A>G (p.Ile906Val)
c.2665A>G (p.Ile889Val)
c.3343A>G (p.Ile1115Val)
c.2992A>G (p.Ile998Val)
c.3292A>G (p.Ile1098Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989005A>TCA348171111GLI2c.3040A>T (p.Ile1014Phe)
c.3091A>T (p.Ile1031Phe)
c.*2139A>T (n.*2139A>T)
c.*2190A>T (n.*2190A>T)
c.3073A>T (p.Ile1025Phe)
c.2950A>T (p.Ile984Phe)
c.2896A>T (p.Ile966Phe)
c.2716A>T (p.Ile906Phe)
c.2665A>T (p.Ile889Phe)
c.3343A>T (p.Ile1115Phe)
c.2992A>T (p.Ile998Phe)
c.3292A>T (p.Ile1098Phe)
2g.120989006T>ACA348171115GLI2c.3041T>A (p.Ile1014Asn)
c.3092T>A (p.Ile1031Asn)
c.*2140T>A (n.*2140T>A)
c.*2191T>A (n.*2191T>A)
c.3074T>A (p.Ile1025Asn)
c.2951T>A (p.Ile984Asn)
c.2897T>A (p.Ile966Asn)
c.2717T>A (p.Ile906Asn)
c.2666T>A (p.Ile889Asn)
c.3344T>A (p.Ile1115Asn)
c.2993T>A (p.Ile998Asn)
c.3293T>A (p.Ile1098Asn)
2g.120989006T>CCA348171117GLI2c.3041T>C (p.Ile1014Thr)
c.3092T>C (p.Ile1031Thr)
c.*2140T>C (n.*2140T>C)
c.*2191T>C (n.*2191T>C)
c.3074T>C (p.Ile1025Thr)
c.2951T>C (p.Ile984Thr)
c.2897T>C (p.Ile966Thr)
c.2717T>C (p.Ile906Thr)
c.2666T>C (p.Ile889Thr)
c.3344T>C (p.Ile1115Thr)
c.2993T>C (p.Ile998Thr)
c.3293T>C (p.Ile1098Thr)
 dbSNP
2g.120989006T>GCA348171118GLI2c.3041T>G (p.Ile1014Ser)
c.3092T>G (p.Ile1031Ser)
c.*2140T>G (n.*2140T>G)
c.*2191T>G (n.*2191T>G)
c.3074T>G (p.Ile1025Ser)
c.2951T>G (p.Ile984Ser)
c.2897T>G (p.Ile966Ser)
c.2717T>G (p.Ile906Ser)
c.2666T>G (p.Ile889Ser)
c.3344T>G (p.Ile1115Ser)
c.2993T>G (p.Ile998Ser)
c.3293T>G (p.Ile1098Ser)
2g.120989006T=CA1283795412GLI2c.3041T= (p.Ile1014=)
c.3092T= (p.Ile1031=)
c.*2140T= (n.*2140T=)
c.*2191T= (n.*2191T=)
c.3074T= (p.Ile1025=)
c.2951T= (p.Ile984=)
c.2897T= (p.Ile966=)
c.2717T= (p.Ile906=)
c.2666T= (p.Ile889=)
c.3344T= (p.Ile1115=)
c.2993T= (p.Ile998=)
c.3293T= (p.Ile1098=)
2g.120989007C>ACA428749710GLI2c.3042C>A (p.Ile1014=)
c.3093C>A (p.Ile1031=)
c.*2141C>A (n.*2141C>A)
c.*2192C>A (n.*2192C>A)
c.3075C>A (p.Ile1025=)
c.2952C>A (p.Ile984=)
c.2898C>A (p.Ile966=)
c.2718C>A (p.Ile906=)
c.2667C>A (p.Ile889=)
c.3345C>A (p.Ile1115=)
c.2994C>A (p.Ile998=)
c.3294C>A (p.Ile1098=)
2g.120989007C=CA1283795413GLI2c.3042C= (p.Ile1014=)
c.3093C= (p.Ile1031=)
c.*2141C= (n.*2141C=)
c.*2192C= (n.*2192C=)
c.3075C= (p.Ile1025=)
c.2952C= (p.Ile984=)
c.2898C= (p.Ile966=)
c.2718C= (p.Ile906=)
c.2667C= (p.Ile889=)
c.3345C= (p.Ile1115=)
c.2994C= (p.Ile998=)
c.3294C= (p.Ile1098=)
2g.120989007C>GCA348171119GLI2c.3042C>G (p.Ile1014Met)
c.3093C>G (p.Ile1031Met)
c.*2141C>G (n.*2141C>G)
c.*2192C>G (n.*2192C>G)
c.3075C>G (p.Ile1025Met)
c.2952C>G (p.Ile984Met)
c.2898C>G (p.Ile966Met)
c.2718C>G (p.Ile906Met)
c.2667C>G (p.Ile889Met)
c.3345C>G (p.Ile1115Met)
c.2994C>G (p.Ile998Met)
c.3294C>G (p.Ile1098Met)
 gnomAD v4
2g.120989007C>TCA1852309GLI2c.3042C>T (p.Ile1014=)
c.3093C>T (p.Ile1031=)
c.*2141C>T (n.*2141C>T)
c.*2192C>T (n.*2192C>T)
c.3075C>T (p.Ile1025=)
c.2952C>T (p.Ile984=)
c.2898C>T (p.Ile966=)
c.2718C>T (p.Ile906=)
c.2667C>T (p.Ile889=)
c.3345C>T (p.Ile1115=)
c.2994C>T (p.Ile998=)
c.3294C>T (p.Ile1098=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989008A>CCA348171122GLI2c.3043A>C (p.Ser1015Arg)
c.3094A>C (p.Ser1032Arg)
c.*2142A>C (n.*2142A>C)
c.*2193A>C (n.*2193A>C)
c.3076A>C (p.Ser1026Arg)
c.2953A>C (p.Ser985Arg)
c.2899A>C (p.Ser967Arg)
c.2719A>C (p.Ser907Arg)
c.2668A>C (p.Ser890Arg)
c.3346A>C (p.Ser1116Arg)
c.2995A>C (p.Ser999Arg)
c.3295A>C (p.Ser1099Arg)
2g.120989008A>GCA348171124GLI2c.3043A>G (p.Ser1015Gly)
c.3094A>G (p.Ser1032Gly)
c.*2142A>G (n.*2142A>G)
c.*2193A>G (n.*2193A>G)
c.3076A>G (p.Ser1026Gly)
c.2953A>G (p.Ser985Gly)
c.2899A>G (p.Ser967Gly)
c.2719A>G (p.Ser907Gly)
c.2668A>G (p.Ser890Gly)
c.3346A>G (p.Ser1116Gly)
c.2995A>G (p.Ser999Gly)
c.3295A>G (p.Ser1099Gly)
 gnomAD v4
2g.120989008A>TCA348171125GLI2c.3043A>T (p.Ser1015Cys)
c.3094A>T (p.Ser1032Cys)
c.*2142A>T (n.*2142A>T)
c.*2193A>T (n.*2193A>T)
c.3076A>T (p.Ser1026Cys)
c.2953A>T (p.Ser985Cys)
c.2899A>T (p.Ser967Cys)
c.2719A>T (p.Ser907Cys)
c.2668A>T (p.Ser890Cys)
c.3346A>T (p.Ser1116Cys)
c.2995A>T (p.Ser999Cys)
c.3295A>T (p.Ser1099Cys)
2g.120989009G>ACA348171131GLI2c.3044G>A (p.Ser1015Asn)
c.3095G>A (p.Ser1032Asn)
c.*2143G>A (n.*2143G>A)
c.*2194G>A (n.*2194G>A)
c.3077G>A (p.Ser1026Asn)
c.2954G>A (p.Ser985Asn)
c.2900G>A (p.Ser967Asn)
c.2720G>A (p.Ser907Asn)
c.2669G>A (p.Ser890Asn)
c.3347G>A (p.Ser1116Asn)
c.2996G>A (p.Ser999Asn)
c.3296G>A (p.Ser1099Asn)
 ClinVar gnomAD v4
2g.120989009G>CCA348171129GLI2c.3044G>C (p.Ser1015Thr)
c.3095G>C (p.Ser1032Thr)
c.*2143G>C (n.*2143G>C)
c.*2194G>C (n.*2194G>C)
c.3077G>C (p.Ser1026Thr)
c.2954G>C (p.Ser985Thr)
c.2900G>C (p.Ser967Thr)
c.2720G>C (p.Ser907Thr)
c.2669G>C (p.Ser890Thr)
c.3347G>C (p.Ser1116Thr)
c.2996G>C (p.Ser999Thr)
c.3296G>C (p.Ser1099Thr)
2g.120989009G>TCA348171127GLI2c.3044G>T (p.Ser1015Ile)
c.3095G>T (p.Ser1032Ile)
c.*2143G>T (n.*2143G>T)
c.*2194G>T (n.*2194G>T)
c.3077G>T (p.Ser1026Ile)
c.2954G>T (p.Ser985Ile)
c.2900G>T (p.Ser967Ile)
c.2720G>T (p.Ser907Ile)
c.2669G>T (p.Ser890Ile)
c.3347G>T (p.Ser1116Ile)
c.2996G>T (p.Ser999Ile)
c.3296G>T (p.Ser1099Ile)
2g.120989010C>ACA348171134GLI2c.3045C>A (p.Ser1015Arg)
c.3096C>A (p.Ser1032Arg)
c.*2144C>A (n.*2144C>A)
c.*2195C>A (n.*2195C>A)
c.3078C>A (p.Ser1026Arg)
c.2955C>A (p.Ser985Arg)
c.2901C>A (p.Ser967Arg)
c.2721C>A (p.Ser907Arg)
c.2670C>A (p.Ser890Arg)
c.3348C>A (p.Ser1116Arg)
c.2997C>A (p.Ser999Arg)
c.3297C>A (p.Ser1099Arg)
 dbSNP gnomAD v2
2g.120989010C=CA1283795414GLI2c.3045C= (p.Ser1015=)
c.3096C= (p.Ser1032=)
c.*2144C= (n.*2144C=)
c.*2195C= (n.*2195C=)
c.3078C= (p.Ser1026=)
c.2955C= (p.Ser985=)
c.2901C= (p.Ser967=)
c.2721C= (p.Ser907=)
c.2670C= (p.Ser890=)
c.3348C= (p.Ser1116=)
c.2997C= (p.Ser999=)
c.3297C= (p.Ser1099=)
2g.120989010C>GCA348171136GLI2c.3045C>G (p.Ser1015Arg)
c.3096C>G (p.Ser1032Arg)
c.*2144C>G (n.*2144C>G)
c.*2195C>G (n.*2195C>G)
c.3078C>G (p.Ser1026Arg)
c.2955C>G (p.Ser985Arg)
c.2901C>G (p.Ser967Arg)
c.2721C>G (p.Ser907Arg)
c.2670C>G (p.Ser890Arg)
c.3348C>G (p.Ser1116Arg)
c.2997C>G (p.Ser999Arg)
c.3297C>G (p.Ser1099Arg)
2g.120989010C>TCA428749712GLI2c.3045C>T (p.Ser1015=)
c.3096C>T (p.Ser1032=)
c.*2144C>T (n.*2144C>T)
c.*2195C>T (n.*2195C>T)
c.3078C>T (p.Ser1026=)
c.2955C>T (p.Ser985=)
c.2901C>T (p.Ser967=)
c.2721C>T (p.Ser907=)
c.2670C>T (p.Ser890=)
c.3348C>T (p.Ser1116=)
c.2997C>T (p.Ser999=)
c.3297C>T (p.Ser1099=)
 dbSNP gnomAD v3 gnomAD v4
2g.120989011G>ACA348171139GLI2c.3046G>A (p.Glu1016Lys)
c.3097G>A (p.Glu1033Lys)
c.*2145G>A (n.*2145G>A)
c.*2196G>A (n.*2196G>A)
c.3079G>A (p.Glu1027Lys)
c.2956G>A (p.Glu986Lys)
c.2902G>A (p.Glu968Lys)
c.2722G>A (p.Glu908Lys)
c.2671G>A (p.Glu891Lys)
c.3349G>A (p.Glu1117Lys)
c.2998G>A (p.Glu1000Lys)
c.3298G>A (p.Glu1100Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.120989011G>CCA348171141GLI2c.3046G>C (p.Glu1016Gln)
c.3097G>C (p.Glu1033Gln)
c.*2145G>C (n.*2145G>C)
c.*2196G>C (n.*2196G>C)
c.3079G>C (p.Glu1027Gln)
c.2956G>C (p.Glu986Gln)
c.2902G>C (p.Glu968Gln)
c.2722G>C (p.Glu908Gln)
c.2671G>C (p.Glu891Gln)
c.3349G>C (p.Glu1117Gln)
c.2998G>C (p.Glu1000Gln)
c.3298G>C (p.Glu1100Gln)
2g.120989011G=CA1283795415GLI2c.3046G= (p.Glu1016=)
c.3097G= (p.Glu1033=)
c.*2145G= (n.*2145G=)
c.*2196G= (n.*2196G=)
c.3079G= (p.Glu1027=)
c.2956G= (p.Glu986=)
c.2902G= (p.Glu968=)
c.2722G= (p.Glu908=)
c.2671G= (p.Glu891=)
c.3349G= (p.Glu1117=)
c.2998G= (p.Glu1000=)
c.3298G= (p.Glu1100=)
2g.120989011G>TCA348171144GLI2c.3046G>T (p.Glu1016Ter)
c.3097G>T (p.Glu1033Ter)
c.*2145G>T (n.*2145G>T)
c.*2196G>T (n.*2196G>T)
c.3079G>T (p.Glu1027Ter)
c.2956G>T (p.Glu986Ter)
c.2902G>T (p.Glu968Ter)
c.2722G>T (p.Glu908Ter)
c.2671G>T (p.Glu891Ter)
c.3349G>T (p.Glu1117Ter)
c.2998G>T (p.Glu1000Ter)
c.3298G>T (p.Glu1100Ter)
2g.120989012A>CCA348171147GLI2c.3047A>C (p.Glu1016Ala)
c.3098A>C (p.Glu1033Ala)
c.*2146A>C (n.*2146A>C)
c.*2197A>C (n.*2197A>C)
c.3080A>C (p.Glu1027Ala)
c.2957A>C (p.Glu986Ala)
c.2903A>C (p.Glu968Ala)
c.2723A>C (p.Glu908Ala)
c.2672A>C (p.Glu891Ala)
c.3350A>C (p.Glu1117Ala)
c.2999A>C (p.Glu1000Ala)
c.3299A>C (p.Glu1100Ala)
2g.120989012A>GCA348171149GLI2c.3047A>G (p.Glu1016Gly)
c.3098A>G (p.Glu1033Gly)
c.*2146A>G (n.*2146A>G)
c.*2197A>G (n.*2197A>G)
c.3080A>G (p.Glu1027Gly)
c.2957A>G (p.Glu986Gly)
c.2903A>G (p.Glu968Gly)
c.2723A>G (p.Glu908Gly)
c.2672A>G (p.Glu891Gly)
c.3350A>G (p.Glu1117Gly)
c.2999A>G (p.Glu1000Gly)
c.3299A>G (p.Glu1100Gly)
2g.120989012A>TCA348171151GLI2c.3047A>T (p.Glu1016Val)
c.3098A>T (p.Glu1033Val)
c.*2146A>T (n.*2146A>T)
c.*2197A>T (n.*2197A>T)
c.3080A>T (p.Glu1027Val)
c.2957A>T (p.Glu986Val)
c.2903A>T (p.Glu968Val)
c.2723A>T (p.Glu908Val)
c.2672A>T (p.Glu891Val)
c.3350A>T (p.Glu1117Val)
c.2999A>T (p.Glu1000Val)
c.3299A>T (p.Glu1100Val)
2g.120989013G>ACA428749713GLI2c.3048G>A (p.Glu1016=)
c.3099G>A (p.Glu1033=)
c.*2147G>A (n.*2147G>A)
c.*2198G>A (n.*2198G>A)
c.3081G>A (p.Glu1027=)
c.2958G>A (p.Glu986=)
c.2904G>A (p.Glu968=)
c.2724G>A (p.Glu908=)
c.2673G>A (p.Glu891=)
c.3351G>A (p.Glu1117=)
c.3000G>A (p.Glu1000=)
c.3300G>A (p.Glu1100=)
 dbSNP gnomAD v2 COSMIC
2g.120989013G>CCA1852310GLI2c.3048G>C (p.Glu1016Asp)
c.3099G>C (p.Glu1033Asp)
c.*2147G>C (n.*2147G>C)
c.*2198G>C (n.*2198G>C)
c.3081G>C (p.Glu1027Asp)
c.2958G>C (p.Glu986Asp)
c.2904G>C (p.Glu968Asp)
c.2724G>C (p.Glu908Asp)
c.2673G>C (p.Glu891Asp)
c.3351G>C (p.Glu1117Asp)
c.3000G>C (p.Glu1000Asp)
c.3300G>C (p.Glu1100Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989013G=CA1283795416GLI2c.3048G= (p.Glu1016=)
c.3099G= (p.Glu1033=)
c.*2147G= (n.*2147G=)
c.*2198G= (n.*2198G=)
c.3081G= (p.Glu1027=)
c.2958G= (p.Glu986=)
c.2904G= (p.Glu968=)
c.2724G= (p.Glu908=)
c.2673G= (p.Glu891=)
c.3351G= (p.Glu1117=)
c.3000G= (p.Glu1000=)
c.3300G= (p.Glu1100=)
2g.120989013G>TCA348171155GLI2c.3048G>T (p.Glu1016Asp)
c.3099G>T (p.Glu1033Asp)
c.*2147G>T (n.*2147G>T)
c.*2198G>T (n.*2198G>T)
c.3081G>T (p.Glu1027Asp)
c.2958G>T (p.Glu986Asp)
c.2904G>T (p.Glu968Asp)
c.2724G>T (p.Glu908Asp)
c.2673G>T (p.Glu891Asp)
c.3351G>T (p.Glu1117Asp)
c.3000G>T (p.Glu1000Asp)
c.3300G>T (p.Glu1100Asp)
2g.120989014A>CCA348171159GLI2c.3049A>C (p.Asn1017His)
c.3100A>C (p.Asn1034His)
c.*2148A>C (n.*2148A>C)
c.*2199A>C (n.*2199A>C)
c.3082A>C (p.Asn1028His)
c.2959A>C (p.Asn987His)
c.2905A>C (p.Asn969His)
c.2725A>C (p.Asn909His)
c.2674A>C (p.Asn892His)
c.3352A>C (p.Asn1118His)
c.3001A>C (p.Asn1001His)
c.3301A>C (p.Asn1101His)
2g.120989014A>GCA348171161GLI2c.3049A>G (p.Asn1017Asp)
c.3100A>G (p.Asn1034Asp)
c.*2148A>G (n.*2148A>G)
c.*2199A>G (n.*2199A>G)
c.3082A>G (p.Asn1028Asp)
c.2959A>G (p.Asn987Asp)
c.2905A>G (p.Asn969Asp)
c.2725A>G (p.Asn909Asp)
c.2674A>G (p.Asn892Asp)
c.3352A>G (p.Asn1118Asp)
c.3001A>G (p.Asn1001Asp)
c.3301A>G (p.Asn1101Asp)
2g.120989014A>TCA348171162GLI2c.3049A>T (p.Asn1017Tyr)
c.3100A>T (p.Asn1034Tyr)
c.*2148A>T (n.*2148A>T)
c.*2199A>T (n.*2199A>T)
c.3082A>T (p.Asn1028Tyr)
c.2959A>T (p.Asn987Tyr)
c.2905A>T (p.Asn969Tyr)
c.2725A>T (p.Asn909Tyr)
c.2674A>T (p.Asn892Tyr)
c.3352A>T (p.Asn1118Tyr)
c.3001A>T (p.Asn1001Tyr)
c.3301A>T (p.Asn1101Tyr)
2g.120989015A=CA1283795417GLI2c.3050A= (p.Asn1017=)
c.3101A= (p.Asn1034=)
c.*2149A= (n.*2149A=)
c.*2200A= (n.*2200A=)
c.3083A= (p.Asn1028=)
c.2960A= (p.Asn987=)
c.2906A= (p.Asn969=)
c.2726A= (p.Asn909=)
c.2675A= (p.Asn892=)
c.3353A= (p.Asn1118=)
c.3002A= (p.Asn1001=)
c.3302A= (p.Asn1101=)
2g.120989015A>CCA348171168GLI2c.3050A>C (p.Asn1017Thr)
c.3101A>C (p.Asn1034Thr)
c.*2149A>C (n.*2149A>C)
c.*2200A>C (n.*2200A>C)
c.3083A>C (p.Asn1028Thr)
c.2960A>C (p.Asn987Thr)
c.2906A>C (p.Asn969Thr)
c.2726A>C (p.Asn909Thr)
c.2675A>C (p.Asn892Thr)
c.3353A>C (p.Asn1118Thr)
c.3002A>C (p.Asn1001Thr)
c.3302A>C (p.Asn1101Thr)
2g.120989015A>GCA348171170GLI2c.3050A>G (p.Asn1017Ser)
c.3101A>G (p.Asn1034Ser)
c.*2149A>G (n.*2149A>G)
c.*2200A>G (n.*2200A>G)
c.3083A>G (p.Asn1028Ser)
c.2960A>G (p.Asn987Ser)
c.2906A>G (p.Asn969Ser)
c.2726A>G (p.Asn909Ser)
c.2675A>G (p.Asn892Ser)
c.3353A>G (p.Asn1118Ser)
c.3002A>G (p.Asn1001Ser)
c.3302A>G (p.Asn1101Ser)
2g.120989015A>TCA348171166GLI2c.3050A>T (p.Asn1017Ile)
c.3101A>T (p.Asn1034Ile)
c.*2149A>T (n.*2149A>T)
c.*2200A>T (n.*2200A>T)
c.3083A>T (p.Asn1028Ile)
c.2960A>T (p.Asn987Ile)
c.2906A>T (p.Asn969Ile)
c.2726A>T (p.Asn909Ile)
c.2675A>T (p.Asn892Ile)
c.3353A>T (p.Asn1118Ile)
c.3002A>T (p.Asn1001Ile)
c.3302A>T (p.Asn1101Ile)
2g.120989016C>ACA348171172GLI2c.3051C>A (p.Asn1017Lys)
c.3102C>A (p.Asn1034Lys)
c.*2150C>A (n.*2150C>A)
c.*2201C>A (n.*2201C>A)
c.3084C>A (p.Asn1028Lys)
c.2961C>A (p.Asn987Lys)
c.2907C>A (p.Asn969Lys)
c.2727C>A (p.Asn909Lys)
c.2676C>A (p.Asn892Lys)
c.3354C>A (p.Asn1118Lys)
c.3003C>A (p.Asn1001Lys)
c.3303C>A (p.Asn1101Lys)
 dbSNP
2g.120989016C=CA1283795418GLI2c.3051C= (p.Asn1017=)
c.3102C= (p.Asn1034=)
c.*2150C= (n.*2150C=)
c.*2201C= (n.*2201C=)
c.3084C= (p.Asn1028=)
c.2961C= (p.Asn987=)
c.2907C= (p.Asn969=)
c.2727C= (p.Asn909=)
c.2676C= (p.Asn892=)
c.3354C= (p.Asn1118=)
c.3003C= (p.Asn1001=)
c.3303C= (p.Asn1101=)
2g.120989016C>GCA348171176GLI2c.3051C>G (p.Asn1017Lys)
c.3102C>G (p.Asn1034Lys)
c.*2150C>G (n.*2150C>G)
c.*2201C>G (n.*2201C>G)
c.3084C>G (p.Asn1028Lys)
c.2961C>G (p.Asn987Lys)
c.2907C>G (p.Asn969Lys)
c.2727C>G (p.Asn909Lys)
c.2676C>G (p.Asn892Lys)
c.3354C>G (p.Asn1118Lys)
c.3003C>G (p.Asn1001Lys)
c.3303C>G (p.Asn1101Lys)
2g.120989016C>TCA1852311GLI2c.3051C>T (p.Asn1017=)
c.3102C>T (p.Asn1034=)
c.*2150C>T (n.*2150C>T)
c.*2201C>T (n.*2201C>T)
c.3084C>T (p.Asn1028=)
c.2961C>T (p.Asn987=)
c.2907C>T (p.Asn969=)
c.2727C>T (p.Asn909=)
c.2676C>T (p.Asn892=)
c.3354C>T (p.Asn1118=)
c.3003C>T (p.Asn1001=)
c.3303C>T (p.Asn1101=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.120989023_120989037dupCA756021997GLI2c.3058_3072dup (p.Ala1024_Ala1025insMetGluAlaValAla)
c.3109_3123dup (p.Ala1041_Ala1042insMetGluAlaValAla)
c.*2157_*2171dup (n.*2157_*2171dup)
c.*2208_*2222dup (n.*2208_*2222dup)
c.3091_3105dup (p.Ala1035_Ala1036insMetGluAlaValAla)
c.2968_2982dup (p.Ala994_Ala995insMetGluAlaValAla)
c.2914_2928dup (p.Ala976_Ala977insMetGluAlaValAla)
c.2734_2748dup (p.Ala916_Ala917insMetGluAlaValAla)
c.2683_2697dup (p.Ala899_Ala900insMetGluAlaValAla)
c.3361_3375dup (p.Ala1125_Ala1126insMetGluAlaValAla)
c.3010_3024dup (p.Ala1008_Ala1009insMetGluAlaValAla)
c.3310_3324dup (p.Ala1108_Ala1109insMetGluAlaValAla)
 dbSNP
2g.120989023_120989037delCA2660922167GLI2c.3058_3072del (p.Met1020_Ala1024del)
c.3109_3123del (p.Met1037_Ala1041del)
c.*2157_*2171del (n.*2157_*2171del)
c.*2208_*2222del (n.*2208_*2222del)
c.3091_3105del (p.Met1031_Ala1035del)
c.2968_2982del (p.Met990_Ala994del)
c.2914_2928del (p.Met972_Ala976del)
c.2734_2748del (p.Met912_Ala916del)
c.2683_2697del (p.Met895_Ala899del)
c.3361_3375del (p.Met1121_Ala1125del)
c.3010_3024del (p.Met1004_Ala1008del)
c.3310_3324del (p.Met1104_Ala1108del)
 gnomAD v4
2g.120989017G>ACA348171178GLI2c.3052G>A (p.Val1018Met)
c.3103G>A (p.Val1035Met)
c.*2151G>A (n.*2151G>A)
c.*2202G>A (n.*2202G>A)
c.3085G>A (p.Val1029Met)
c.2962G>A (p.Val988Met)
c.2908G>A (p.Val970Met)
c.2728G>A (p.Val910Met)
c.2677G>A (p.Val893Met)
c.3355G>A (p.Val1119Met)
c.3004G>A (p.Val1002Met)
c.3304G>A (p.Val1102Met)
 gnomAD v4
2g.120989017G>CCA348171183GLI2c.3052G>C (p.Val1018Leu)
c.3103G>C (p.Val1035Leu)
c.*2151G>C (n.*2151G>C)
c.*2202G>C (n.*2202G>C)
c.3085G>C (p.Val1029Leu)
c.2962G>C (p.Val988Leu)
c.2908G>C (p.Val970Leu)
c.2728G>C (p.Val910Leu)
c.2677G>C (p.Val893Leu)
c.3355G>C (p.Val1119Leu)
c.3004G>C (p.Val1002Leu)
c.3304G>C (p.Val1102Leu)
2g.120989017G>TCA348171180GLI2c.3052G>T (p.Val1018Leu)
c.3103G>T (p.Val1035Leu)
c.*2151G>T (n.*2151G>T)
c.*2202G>T (n.*2202G>T)
c.3085G>T (p.Val1029Leu)
c.2962G>T (p.Val988Leu)
c.2908G>T (p.Val970Leu)
c.2728G>T (p.Val910Leu)
c.2677G>T (p.Val893Leu)
c.3355G>T (p.Val1119Leu)
c.3004G>T (p.Val1002Leu)
c.3304G>T (p.Val1102Leu)
 gnomAD v4
2g.120989018T>ACA348171186GLI2c.3053T>A (p.Val1018Glu)
c.3104T>A (p.Val1035Glu)
c.*2152T>A (n.*2152T>A)
c.*2203T>A (n.*2203T>A)
c.3086T>A (p.Val1029Glu)
c.2963T>A (p.Val988Glu)
c.2909T>A (p.Val970Glu)
c.2729T>A (p.Val910Glu)
c.2678T>A (p.Val893Glu)
c.3356T>A (p.Val1119Glu)
c.3005T>A (p.Val1002Glu)
c.3305T>A (p.Val1102Glu)
2g.120989018T>CCA348171189GLI2c.3053T>C (p.Val1018Ala)
c.3104T>C (p.Val1035Ala)
c.*2152T>C (n.*2152T>C)
c.*2203T>C (n.*2203T>C)
c.3086T>C (p.Val1029Ala)
c.2963T>C (p.Val988Ala)
c.2909T>C (p.Val970Ala)
c.2729T>C (p.Val910Ala)
c.2678T>C (p.Val893Ala)
c.3356T>C (p.Val1119Ala)
c.3005T>C (p.Val1002Ala)
c.3305T>C (p.Val1102Ala)
2g.120989018T>GCA348171188GLI2c.3053T>G (p.Val1018Gly)
c.3104T>G (p.Val1035Gly)
c.*2152T>G (n.*2152T>G)
c.*2203T>G (n.*2203T>G)
c.3086T>G (p.Val1029Gly)
c.2963T>G (p.Val988Gly)
c.2909T>G (p.Val970Gly)
c.2729T>G (p.Val910Gly)
c.2678T>G (p.Val893Gly)
c.3356T>G (p.Val1119Gly)
c.3005T>G (p.Val1002Gly)
c.3305T>G (p.Val1102Gly)
2g.120989019G>ACA428749718GLI2c.3054G>A (p.Val1018=)
c.3105G>A (p.Val1035=)
c.*2153G>A (n.*2153G>A)
c.*2204G>A (n.*2204G>A)
c.3087G>A (p.Val1029=)
c.2964G>A (p.Val988=)
c.2910G>A (p.Val970=)
c.2730G>A (p.Val910=)
c.2679G>A (p.Val893=)
c.3357G>A (p.Val1119=)
c.3006G>A (p.Val1002=)
c.3306G>A (p.Val1102=)
 dbSNP gnomAD v2 gnomAD v4
2g.120989019G>CCA428749719GLI2c.3054G>C (p.Val1018=)
c.3105G>C (p.Val1035=)
c.*2153G>C (n.*2153G>C)
c.*2204G>C (n.*2204G>C)
c.3087G>C (p.Val1029=)
c.2964G>C (p.Val988=)
c.2910G>C (p.Val970=)
c.2730G>C (p.Val910=)
c.2679G>C (p.Val893=)
c.3357G>C (p.Val1119=)
c.3006G>C (p.Val1002=)
c.3306G>C (p.Val1102=)
 dbSNP gnomAD v3 gnomAD v4
2g.120989019G=CA1283795419GLI2c.3054G= (p.Val1018=)
c.3105G= (p.Val1035=)
c.*2153G= (n.*2153G=)
c.*2204G= (n.*2204G=)
c.3087G= (p.Val1029=)
c.2964G= (p.Val988=)
c.2910G= (p.Val970=)
c.2730G= (p.Val910=)
c.2679G= (p.Val893=)
c.3357G= (p.Val1119=)
c.3006G= (p.Val1002=)
c.3306G= (p.Val1102=)
2g.120989019G>TCA428749720GLI2c.3054G>T (p.Val1018=)
c.3105G>T (p.Val1035=)
c.*2153G>T (n.*2153G>T)
c.*2204G>T (n.*2204G>T)
c.3087G>T (p.Val1029=)
c.2964G>T (p.Val988=)
c.2910G>T (p.Val970=)
c.2730G>T (p.Val910=)
c.2679G>T (p.Val893=)
c.3357G>T (p.Val1119=)
c.3006G>T (p.Val1002=)
c.3306G>T (p.Val1102=)
2g.120989020G>ACA348171193GLI2c.3055G>A (p.Ala1019Thr)
c.3106G>A (p.Ala1036Thr)
c.*2154G>A (n.*2154G>A)
c.*2205G>A (n.*2205G>A)
c.3088G>A (p.Ala1030Thr)
c.2965G>A (p.Ala989Thr)
c.2911G>A (p.Ala971Thr)
c.2731G>A (p.Ala911Thr)
c.2680G>A (p.Ala894Thr)
c.3358G>A (p.Ala1120Thr)
c.3007G>A (p.Ala1003Thr)
c.3307G>A (p.Ala1103Thr)
2g.120989020G>CCA348171194GLI2c.3055G>C (p.Ala1019Pro)
c.3106G>C (p.Ala1036Pro)
c.*2154G>C (n.*2154G>C)
c.*2205G>C (n.*2205G>C)
c.3088G>C (p.Ala1030Pro)
c.2965G>C (p.Ala989Pro)
c.2911G>C (p.Ala971Pro)
c.2731G>C (p.Ala911Pro)
c.2680G>C (p.Ala894Pro)
c.3358G>C (p.Ala1120Pro)
c.3007G>C (p.Ala1003Pro)
c.3307G>C (p.Ala1103Pro)
2g.120989020G>TCA348171197GLI2c.3055G>T (p.Ala1019Ser)
c.3106G>T (p.Ala1036Ser)
c.*2154G>T (n.*2154G>T)
c.*2205G>T (n.*2205G>T)
c.3088G>T (p.Ala1030Ser)
c.2965G>T (p.Ala989Ser)
c.2911G>T (p.Ala971Ser)
c.2731G>T (p.Ala911Ser)
c.2680G>T (p.Ala894Ser)
c.3358G>T (p.Ala1120Ser)
c.3007G>T (p.Ala1003Ser)
c.3307G>T (p.Ala1103Ser)
 gnomAD v4
2g.120989021C>ACA348171199GLI2c.3056C>A (p.Ala1019Glu)
c.3107C>A (p.Ala1036Glu)
c.*2155C>A (n.*2155C>A)
c.*2206C>A (n.*2206C>A)
c.3089C>A (p.Ala1030Glu)
c.2966C>A (p.Ala989Glu)
c.2912C>A (p.Ala971Glu)
c.2732C>A (p.Ala911Glu)
c.2681C>A (p.Ala894Glu)
c.3359C>A (p.Ala1120Glu)
c.3008C>A (p.Ala1003Glu)
c.3308C>A (p.Ala1103Glu)
2g.120989021C=CA1283795420GLI2c.3056C= (p.Ala1019=)
c.3107C= (p.Ala1036=)
c.*2155C= (n.*2155C=)
c.*2206C= (n.*2206C=)
c.3089C= (p.Ala1030=)
c.2966C= (p.Ala989=)
c.2912C= (p.Ala971=)
c.2732C= (p.Ala911=)
c.2681C= (p.Ala894=)
c.3359C= (p.Ala1120=)
c.3008C= (p.Ala1003=)
c.3308C= (p.Ala1103=)
2g.120989021C>GCA348171201GLI2c.3056C>G (p.Ala1019Gly)
c.3107C>G (p.Ala1036Gly)
c.*2155C>G (n.*2155C>G)
c.*2206C>G (n.*2206C>G)
c.3089C>G (p.Ala1030Gly)
c.2966C>G (p.Ala989Gly)
c.2912C>G (p.Ala971Gly)
c.2732C>G (p.Ala911Gly)
c.2681C>G (p.Ala894Gly)
c.3359C>G (p.Ala1120Gly)
c.3008C>G (p.Ala1003Gly)
c.3308C>G (p.Ala1103Gly)
2g.120989021C>TCA1852312GLI2c.3056C>T (p.Ala1019Val)
c.3107C>T (p.Ala1036Val)
c.*2155C>T (n.*2155C>T)
c.*2206C>T (n.*2206C>T)
c.3089C>T (p.Ala1030Val)
c.2966C>T (p.Ala989Val)
c.2912C>T (p.Ala971Val)
c.2732C>T (p.Ala911Val)
c.2681C>T (p.Ala894Val)
c.3359C>T (p.Ala1120Val)
c.3008C>T (p.Ala1003Val)
c.3308C>T (p.Ala1103Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.120989022G>ACA428749729GLI2c.3057G>A (p.Ala1019=)
c.3108G>A (p.Ala1036=)
c.*2156G>A (n.*2156G>A)
c.*2207G>A (n.*2207G>A)
c.3090G>A (p.Ala1030=)
c.2967G>A (p.Ala989=)
c.2913G>A (p.Ala971=)
c.2733G>A (p.Ala911=)
c.2682G>A (p.Ala894=)
c.3360G>A (p.Ala1120=)
c.3009G>A (p.Ala1003=)
c.3309G>A (p.Ala1103=)
 dbSNP
2g.120989022G>CCA428749725GLI2c.3057G>C (p.Ala1019=)
c.3108G>C (p.Ala1036=)
c.*2156G>C (n.*2156G>C)
c.*2207G>C (n.*2207G>C)
c.3090G>C (p.Ala1030=)
c.2967G>C (p.Ala989=)
c.2913G>C (p.Ala971=)
c.2733G>C (p.Ala911=)
c.2682G>C (p.Ala894=)
c.3360G>C (p.Ala1120=)
c.3009G>C (p.Ala1003=)
c.3309G>C (p.Ala1103=)
2g.120989022G>TCA428749724GLI2c.3057G>T (p.Ala1019=)
c.3108G>T (p.Ala1036=)
c.*2156G>T (n.*2156G>T)
c.*2207G>T (n.*2207G>T)
c.3090G>T (p.Ala1030=)
c.2967G>T (p.Ala989=)
c.2913G>T (p.Ala971=)
c.2733G>T (p.Ala911=)
c.2682G>T (p.Ala894=)
c.3360G>T (p.Ala1120=)
c.3009G>T (p.Ala1003=)
c.3309G>T (p.Ala1103=)
2g.120989023A>CCA348171204GLI2c.3058A>C (p.Met1020Leu)
c.3109A>C (p.Met1037Leu)
c.*2157A>C (n.*2157A>C)
c.*2208A>C (n.*2208A>C)
c.3091A>C (p.Met1031Leu)
c.2968A>C (p.Met990Leu)
c.2914A>C (p.Met972Leu)
c.2734A>C (p.Met912Leu)
c.2683A>C (p.Met895Leu)
c.3361A>C (p.Met1121Leu)
c.3010A>C (p.Met1004Leu)
c.3310A>C (p.Met1104Leu)
2g.120989023A>GCA348171206GLI2c.3058A>G (p.Met1020Val)
c.3109A>G (p.Met1037Val)
c.*2157A>G (n.*2157A>G)
c.*2208A>G (n.*2208A>G)
c.3091A>G (p.Met1031Val)
c.2968A>G (p.Met990Val)
c.2914A>G (p.Met972Val)
c.2734A>G (p.Met912Val)
c.2683A>G (p.Met895Val)
c.3361A>G (p.Met1121Val)
c.3010A>G (p.Met1004Val)
c.3310A>G (p.Met1104Val)
 gnomAD v4
2g.120989023A>TCA348171208GLI2c.3058A>T (p.Met1020Leu)
c.3109A>T (p.Met1037Leu)
c.*2157A>T (n.*2157A>T)
c.*2208A>T (n.*2208A>T)
c.3091A>T (p.Met1031Leu)
c.2968A>T (p.Met990Leu)
c.2914A>T (p.Met972Leu)
c.2734A>T (p.Met912Leu)
c.2683A>T (p.Met895Leu)
c.3361A>T (p.Met1121Leu)
c.3010A>T (p.Met1004Leu)
c.3310A>T (p.Met1104Leu)
2g.120989024T>ACA348171214GLI2c.3059T>A (p.Met1020Lys)
c.3110T>A (p.Met1037Lys)
c.*2158T>A (n.*2158T>A)
c.*2209T>A (n.*2209T>A)
c.3092T>A (p.Met1031Lys)
c.2969T>A (p.Met990Lys)
c.2915T>A (p.Met972Lys)
c.2735T>A (p.Met912Lys)
c.2684T>A (p.Met895Lys)
c.3362T>A (p.Met1121Lys)
c.3011T>A (p.Met1004Lys)
c.3311T>A (p.Met1104Lys)
2g.120989024T>CCA348171212GLI2c.3059T>C (p.Met1020Thr)
c.3110T>C (p.Met1037Thr)
c.*2158T>C (n.*2158T>C)
c.*2209T>C (n.*2209T>C)
c.3092T>C (p.Met1031Thr)
c.2969T>C (p.Met990Thr)
c.2915T>C (p.Met972Thr)
c.2735T>C (p.Met912Thr)
c.2684T>C (p.Met895Thr)
c.3362T>C (p.Met1121Thr)
c.3011T>C (p.Met1004Thr)
c.3311T>C (p.Met1104Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989024T>GCA348171209GLI2c.3059T>G (p.Met1020Arg)
c.3110T>G (p.Met1037Arg)
c.*2158T>G (n.*2158T>G)
c.*2209T>G (n.*2209T>G)
c.3092T>G (p.Met1031Arg)
c.2969T>G (p.Met990Arg)
c.2915T>G (p.Met972Arg)
c.2735T>G (p.Met912Arg)
c.2684T>G (p.Met895Arg)
c.3362T>G (p.Met1121Arg)
c.3011T>G (p.Met1004Arg)
c.3311T>G (p.Met1104Arg)
2g.120989024T=CA1283795421GLI2c.3059T= (p.Met1020=)
c.3110T= (p.Met1037=)
c.*2158T= (n.*2158T=)
c.*2209T= (n.*2209T=)
c.3092T= (p.Met1031=)
c.2969T= (p.Met990=)
c.2915T= (p.Met972=)
c.2735T= (p.Met912=)
c.2684T= (p.Met895=)
c.3362T= (p.Met1121=)
c.3011T= (p.Met1004=)
c.3311T= (p.Met1104=)
2g.120989025G>ACA348171217GLI2c.3060G>A (p.Met1020Ile)
c.3111G>A (p.Met1037Ile)
c.*2159G>A (n.*2159G>A)
c.*2210G>A (n.*2210G>A)
c.3093G>A (p.Met1031Ile)
c.2970G>A (p.Met990Ile)
c.2916G>A (p.Met972Ile)
c.2736G>A (p.Met912Ile)
c.2685G>A (p.Met895Ile)
c.3363G>A (p.Met1121Ile)
c.3012G>A (p.Met1004Ile)
c.3312G>A (p.Met1104Ile)
2g.120989025G>CCA348171219GLI2c.3060G>C (p.Met1020Ile)
c.3111G>C (p.Met1037Ile)
c.*2159G>C (n.*2159G>C)
c.*2210G>C (n.*2210G>C)
c.3093G>C (p.Met1031Ile)
c.2970G>C (p.Met990Ile)
c.2916G>C (p.Met972Ile)
c.2736G>C (p.Met912Ile)
c.2685G>C (p.Met895Ile)
c.3363G>C (p.Met1121Ile)
c.3012G>C (p.Met1004Ile)
c.3312G>C (p.Met1104Ile)
2g.120989025G>TCA348171221GLI2c.3060G>T (p.Met1020Ile)
c.3111G>T (p.Met1037Ile)
c.*2159G>T (n.*2159G>T)
c.*2210G>T (n.*2210G>T)
c.3093G>T (p.Met1031Ile)
c.2970G>T (p.Met990Ile)
c.2916G>T (p.Met972Ile)
c.2736G>T (p.Met912Ile)
c.2685G>T (p.Met895Ile)
c.3363G>T (p.Met1121Ile)
c.3012G>T (p.Met1004Ile)
c.3312G>T (p.Met1104Ile)
2g.120989026G>ACA348171222GLI2c.3061G>A (p.Glu1021Lys)
c.3112G>A (p.Glu1038Lys)
c.*2160G>A (n.*2160G>A)
c.*2211G>A (n.*2211G>A)
c.3094G>A (p.Glu1032Lys)
c.2971G>A (p.Glu991Lys)
c.2917G>A (p.Glu973Lys)
c.2737G>A (p.Glu913Lys)
c.2686G>A (p.Glu896Lys)
c.3364G>A (p.Glu1122Lys)
c.3013G>A (p.Glu1005Lys)
c.3313G>A (p.Glu1105Lys)
2g.120989026G>CCA348171224GLI2c.3061G>C (p.Glu1021Gln)
c.3112G>C (p.Glu1038Gln)
c.*2160G>C (n.*2160G>C)
c.*2211G>C (n.*2211G>C)
c.3094G>C (p.Glu1032Gln)
c.2971G>C (p.Glu991Gln)
c.2917G>C (p.Glu973Gln)
c.2737G>C (p.Glu913Gln)
c.2686G>C (p.Glu896Gln)
c.3364G>C (p.Glu1122Gln)
c.3013G>C (p.Glu1005Gln)
c.3313G>C (p.Glu1105Gln)
 gnomAD v4
2g.120989026G>TCA348171226GLI2c.3061G>T (p.Glu1021Ter)
c.3112G>T (p.Glu1038Ter)
c.*2160G>T (n.*2160G>T)
c.*2211G>T (n.*2211G>T)
c.3094G>T (p.Glu1032Ter)
c.2971G>T (p.Glu991Ter)
c.2917G>T (p.Glu973Ter)
c.2737G>T (p.Glu913Ter)
c.2686G>T (p.Glu896Ter)
c.3364G>T (p.Glu1122Ter)
c.3013G>T (p.Glu1005Ter)
c.3313G>T (p.Glu1105Ter)
2g.120989027A>CCA348171229GLI2c.3062A>C (p.Glu1021Ala)
c.3113A>C (p.Glu1038Ala)
c.*2161A>C (n.*2161A>C)
c.*2212A>C (n.*2212A>C)
c.3095A>C (p.Glu1032Ala)
c.2972A>C (p.Glu991Ala)
c.2918A>C (p.Glu973Ala)
c.2738A>C (p.Glu913Ala)
c.2687A>C (p.Glu896Ala)
c.3365A>C (p.Glu1122Ala)
c.3014A>C (p.Glu1005Ala)
c.3314A>C (p.Glu1105Ala)
2g.120989027A>GCA348171231GLI2c.3062A>G (p.Glu1021Gly)
c.3113A>G (p.Glu1038Gly)
c.*2161A>G (n.*2161A>G)
c.*2212A>G (n.*2212A>G)
c.3095A>G (p.Glu1032Gly)
c.2972A>G (p.Glu991Gly)
c.2918A>G (p.Glu973Gly)
c.2738A>G (p.Glu913Gly)
c.2687A>G (p.Glu896Gly)
c.3365A>G (p.Glu1122Gly)
c.3014A>G (p.Glu1005Gly)
c.3314A>G (p.Glu1105Gly)
2g.120989027A>TCA348171233GLI2c.3062A>T (p.Glu1021Val)
c.3113A>T (p.Glu1038Val)
c.*2161A>T (n.*2161A>T)
c.*2212A>T (n.*2212A>T)
c.3095A>T (p.Glu1032Val)
c.2972A>T (p.Glu991Val)
c.2918A>T (p.Glu973Val)
c.2738A>T (p.Glu913Val)
c.2687A>T (p.Glu896Val)
c.3365A>T (p.Glu1122Val)
c.3014A>T (p.Glu1005Val)
c.3314A>T (p.Glu1105Val)
2g.120989028G>ACA428749733GLI2c.3063G>A (p.Glu1021=)
c.3114G>A (p.Glu1038=)
c.*2162G>A (n.*2162G>A)
c.*2213G>A (n.*2213G>A)
c.3096G>A (p.Glu1032=)
c.2973G>A (p.Glu991=)
c.2919G>A (p.Glu973=)
c.2739G>A (p.Glu913=)
c.2688G>A (p.Glu896=)
c.3366G>A (p.Glu1122=)
c.3015G>A (p.Glu1005=)
c.3315G>A (p.Glu1105=)
2g.120989028G>CCA348171234GLI2c.3063G>C (p.Glu1021Asp)
c.3114G>C (p.Glu1038Asp)
c.*2162G>C (n.*2162G>C)
c.*2213G>C (n.*2213G>C)
c.3096G>C (p.Glu1032Asp)
c.2973G>C (p.Glu991Asp)
c.2919G>C (p.Glu973Asp)
c.2739G>C (p.Glu913Asp)
c.2688G>C (p.Glu896Asp)
c.3366G>C (p.Glu1122Asp)
c.3015G>C (p.Glu1005Asp)
c.3315G>C (p.Glu1105Asp)
 gnomAD v4
2g.120989028G>TCA348171235GLI2c.3063G>T (p.Glu1021Asp)
c.3114G>T (p.Glu1038Asp)
c.*2162G>T (n.*2162G>T)
c.*2213G>T (n.*2213G>T)
c.3096G>T (p.Glu1032Asp)
c.2973G>T (p.Glu991Asp)
c.2919G>T (p.Glu973Asp)
c.2739G>T (p.Glu913Asp)
c.2688G>T (p.Glu896Asp)
c.3366G>T (p.Glu1122Asp)
c.3015G>T (p.Glu1005Asp)
c.3315G>T (p.Glu1105Asp)
2g.120989029G>ACA348171239GLI2c.3064G>A (p.Ala1022Thr)
c.3115G>A (p.Ala1039Thr)
c.*2163G>A (n.*2163G>A)
c.*2214G>A (n.*2214G>A)
c.3097G>A (p.Ala1033Thr)
c.2974G>A (p.Ala992Thr)
c.2920G>A (p.Ala974Thr)
c.2740G>A (p.Ala914Thr)
c.2689G>A (p.Ala897Thr)
c.3367G>A (p.Ala1123Thr)
c.3016G>A (p.Ala1006Thr)
c.3316G>A (p.Ala1106Thr)
 dbSNP
2g.120989029G>CCA348171240GLI2c.3064G>C (p.Ala1022Pro)
c.3115G>C (p.Ala1039Pro)
c.*2163G>C (n.*2163G>C)
c.*2214G>C (n.*2214G>C)
c.3097G>C (p.Ala1033Pro)
c.2974G>C (p.Ala992Pro)
c.2920G>C (p.Ala974Pro)
c.2740G>C (p.Ala914Pro)
c.2689G>C (p.Ala897Pro)
c.3367G>C (p.Ala1123Pro)
c.3016G>C (p.Ala1006Pro)
c.3316G>C (p.Ala1106Pro)
2g.120989029G=CA1283795422GLI2c.3064G= (p.Ala1022=)
c.3115G= (p.Ala1039=)
c.*2163G= (n.*2163G=)
c.*2214G= (n.*2214G=)
c.3097G= (p.Ala1033=)
c.2974G= (p.Ala992=)
c.2920G= (p.Ala974=)
c.2740G= (p.Ala914=)
c.2689G= (p.Ala897=)
c.3367G= (p.Ala1123=)
c.3016G= (p.Ala1006=)
c.3316G= (p.Ala1106=)
2g.120989029G>TCA348171237GLI2c.3064G>T (p.Ala1022Ser)
c.3115G>T (p.Ala1039Ser)
c.*2163G>T (n.*2163G>T)
c.*2214G>T (n.*2214G>T)
c.3097G>T (p.Ala1033Ser)
c.2974G>T (p.Ala992Ser)
c.2920G>T (p.Ala974Ser)
c.2740G>T (p.Ala914Ser)
c.2689G>T (p.Ala897Ser)
c.3367G>T (p.Ala1123Ser)
c.3016G>T (p.Ala1006Ser)
c.3316G>T (p.Ala1106Ser)
2g.120989030C>ACA348171241GLI2c.3065C>A (p.Ala1022Asp)
c.3116C>A (p.Ala1039Asp)
c.*2164C>A (n.*2164C>A)
c.*2215C>A (n.*2215C>A)
c.3098C>A (p.Ala1033Asp)
c.2975C>A (p.Ala992Asp)
c.2921C>A (p.Ala974Asp)
c.2741C>A (p.Ala914Asp)
c.2690C>A (p.Ala897Asp)
c.3368C>A (p.Ala1123Asp)
c.3017C>A (p.Ala1006Asp)
c.3317C>A (p.Ala1106Asp)
 gnomAD v4
2g.120989030C=CA1283795423GLI2c.3065C= (p.Ala1022=)
c.3116C= (p.Ala1039=)
c.*2164C= (n.*2164C=)
c.*2215C= (n.*2215C=)
c.3098C= (p.Ala1033=)
c.2975C= (p.Ala992=)
c.2921C= (p.Ala974=)
c.2741C= (p.Ala914=)
c.2690C= (p.Ala897=)
c.3368C= (p.Ala1123=)
c.3017C= (p.Ala1006=)
c.3317C= (p.Ala1106=)
2g.120989030C>GCA348171242GLI2c.3065C>G (p.Ala1022Gly)
c.3116C>G (p.Ala1039Gly)
c.*2164C>G (n.*2164C>G)
c.*2215C>G (n.*2215C>G)
c.3098C>G (p.Ala1033Gly)
c.2975C>G (p.Ala992Gly)
c.2921C>G (p.Ala974Gly)
c.2741C>G (p.Ala914Gly)
c.2690C>G (p.Ala897Gly)
c.3368C>G (p.Ala1123Gly)
c.3017C>G (p.Ala1006Gly)
c.3317C>G (p.Ala1106Gly)
2g.120989030C>TCA348171243GLI2c.3065C>T (p.Ala1022Val)
c.3116C>T (p.Ala1039Val)
c.*2164C>T (n.*2164C>T)
c.*2215C>T (n.*2215C>T)
c.3098C>T (p.Ala1033Val)
c.2975C>T (p.Ala992Val)
c.2921C>T (p.Ala974Val)
c.2741C>T (p.Ala914Val)
c.2690C>T (p.Ala897Val)
c.3368C>T (p.Ala1123Val)
c.3017C>T (p.Ala1006Val)
c.3317C>T (p.Ala1106Val)
 dbSNP gnomAD v2 gnomAD v4
2g.120989031C>ACA428749734GLI2c.3066C>A (p.Ala1022=)
c.3117C>A (p.Ala1039=)
c.*2165C>A (n.*2165C>A)
c.*2216C>A (n.*2216C>A)
c.3099C>A (p.Ala1033=)
c.2976C>A (p.Ala992=)
c.2922C>A (p.Ala974=)
c.2742C>A (p.Ala914=)
c.2691C>A (p.Ala897=)
c.3369C>A (p.Ala1123=)
c.3018C>A (p.Ala1006=)
c.3318C>A (p.Ala1106=)
 gnomAD v4
2g.120989031C=CA1283795424GLI2c.3066C= (p.Ala1022=)
c.3117C= (p.Ala1039=)
c.*2165C= (n.*2165C=)
c.*2216C= (n.*2216C=)
c.3099C= (p.Ala1033=)
c.2976C= (p.Ala992=)
c.2922C= (p.Ala974=)
c.2742C= (p.Ala914=)
c.2691C= (p.Ala897=)
c.3369C= (p.Ala1123=)
c.3018C= (p.Ala1006=)
c.3318C= (p.Ala1106=)
2g.120989031C>GCA428749735GLI2c.3066C>G (p.Ala1022=)
c.3117C>G (p.Ala1039=)
c.*2165C>G (n.*2165C>G)
c.*2216C>G (n.*2216C>G)
c.3099C>G (p.Ala1033=)
c.2976C>G (p.Ala992=)
c.2922C>G (p.Ala974=)
c.2742C>G (p.Ala914=)
c.2691C>G (p.Ala897=)
c.3369C>G (p.Ala1123=)
c.3018C>G (p.Ala1006=)
c.3318C>G (p.Ala1106=)
 gnomAD v4
2g.120989031C>TCA428749736GLI2c.3066C>T (p.Ala1022=)
c.3117C>T (p.Ala1039=)
c.*2165C>T (n.*2165C>T)
c.*2216C>T (n.*2216C>T)
c.3099C>T (p.Ala1033=)
c.2976C>T (p.Ala992=)
c.2922C>T (p.Ala974=)
c.2742C>T (p.Ala914=)
c.2691C>T (p.Ala897=)
c.3369C>T (p.Ala1123=)
c.3018C>T (p.Ala1006=)
c.3318C>T (p.Ala1106=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989032G>ACA1852313GLI2c.3067G>A (p.Val1023Met)
c.3118G>A (p.Val1040Met)
c.*2166G>A (n.*2166G>A)
c.*2217G>A (n.*2217G>A)
c.3100G>A (p.Val1034Met)
c.2977G>A (p.Val993Met)
c.2923G>A (p.Val975Met)
c.2743G>A (p.Val915Met)
c.2692G>A (p.Val898Met)
c.3370G>A (p.Val1124Met)
c.3019G>A (p.Val1007Met)
c.3319G>A (p.Val1107Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989032G>CCA348171247GLI2c.3067G>C (p.Val1023Leu)
c.3118G>C (p.Val1040Leu)
c.*2166G>C (n.*2166G>C)
c.*2217G>C (n.*2217G>C)
c.3100G>C (p.Val1034Leu)
c.2977G>C (p.Val993Leu)
c.2923G>C (p.Val975Leu)
c.2743G>C (p.Val915Leu)
c.2692G>C (p.Val898Leu)
c.3370G>C (p.Val1124Leu)
c.3019G>C (p.Val1007Leu)
c.3319G>C (p.Val1107Leu)
2g.120989032G=CA1283795425GLI2c.3067G= (p.Val1023=)
c.3118G= (p.Val1040=)
c.*2166G= (n.*2166G=)
c.*2217G= (n.*2217G=)
c.3100G= (p.Val1034=)
c.2977G= (p.Val993=)
c.2923G= (p.Val975=)
c.2743G= (p.Val915=)
c.2692G= (p.Val898=)
c.3370G= (p.Val1124=)
c.3019G= (p.Val1007=)
c.3319G= (p.Val1107=)
2g.120989032G>TCA348171249GLI2c.3067G>T (p.Val1023Leu)
c.3118G>T (p.Val1040Leu)
c.*2166G>T (n.*2166G>T)
c.*2217G>T (n.*2217G>T)
c.3100G>T (p.Val1034Leu)
c.2977G>T (p.Val993Leu)
c.2923G>T (p.Val975Leu)
c.2743G>T (p.Val915Leu)
c.2692G>T (p.Val898Leu)
c.3370G>T (p.Val1124Leu)
c.3019G>T (p.Val1007Leu)
c.3319G>T (p.Val1107Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.120989033T>ACA348171251GLI2c.3068T>A (p.Val1023Glu)
c.3119T>A (p.Val1040Glu)
c.*2167T>A (n.*2167T>A)
c.*2218T>A (n.*2218T>A)
c.3101T>A (p.Val1034Glu)
c.2978T>A (p.Val993Glu)
c.2924T>A (p.Val975Glu)
c.2744T>A (p.Val915Glu)
c.2693T>A (p.Val898Glu)
c.3371T>A (p.Val1124Glu)
c.3020T>A (p.Val1007Glu)
c.3320T>A (p.Val1107Glu)
2g.120989033T>CCA348171253GLI2c.3068T>C (p.Val1023Ala)
c.3119T>C (p.Val1040Ala)
c.*2167T>C (n.*2167T>C)
c.*2218T>C (n.*2218T>C)
c.3101T>C (p.Val1034Ala)
c.2978T>C (p.Val993Ala)
c.2924T>C (p.Val975Ala)
c.2744T>C (p.Val915Ala)
c.2693T>C (p.Val898Ala)
c.3371T>C (p.Val1124Ala)
c.3020T>C (p.Val1007Ala)
c.3320T>C (p.Val1107Ala)
2g.120989033T>GCA348171255GLI2c.3068T>G (p.Val1023Gly)
c.3119T>G (p.Val1040Gly)
c.*2167T>G (n.*2167T>G)
c.*2218T>G (n.*2218T>G)
c.3101T>G (p.Val1034Gly)
c.2978T>G (p.Val993Gly)
c.2924T>G (p.Val975Gly)
c.2744T>G (p.Val915Gly)
c.2693T>G (p.Val898Gly)
c.3371T>G (p.Val1124Gly)
c.3020T>G (p.Val1007Gly)
c.3320T>G (p.Val1107Gly)
2g.120989034G>ACA428749738GLI2c.3069G>A (p.Val1023=)
c.3120G>A (p.Val1040=)
c.*2168G>A (n.*2168G>A)
c.*2219G>A (n.*2219G>A)
c.3102G>A (p.Val1034=)
c.2979G>A (p.Val993=)
c.2925G>A (p.Val975=)
c.2745G>A (p.Val915=)
c.2694G>A (p.Val898=)
c.3372G>A (p.Val1124=)
c.3021G>A (p.Val1007=)
c.3321G>A (p.Val1107=)
 dbSNP
2g.120989034G>CCA428749739GLI2c.3069G>C (p.Val1023=)
c.3120G>C (p.Val1040=)
c.*2168G>C (n.*2168G>C)
c.*2219G>C (n.*2219G>C)
c.3102G>C (p.Val1034=)
c.2979G>C (p.Val993=)
c.2925G>C (p.Val975=)
c.2745G>C (p.Val915=)
c.2694G>C (p.Val898=)
c.3372G>C (p.Val1124=)
c.3021G>C (p.Val1007=)
c.3321G>C (p.Val1107=)
2g.120989034G=CA1283795426GLI2c.3069G= (p.Val1023=)
c.3120G= (p.Val1040=)
c.*2168G= (n.*2168G=)
c.*2219G= (n.*2219G=)
c.3102G= (p.Val1034=)
c.2979G= (p.Val993=)
c.2925G= (p.Val975=)
c.2745G= (p.Val915=)
c.2694G= (p.Val898=)
c.3372G= (p.Val1124=)
c.3021G= (p.Val1007=)
c.3321G= (p.Val1107=)
2g.120989034G>TCA428749740GLI2c.3069G>T (p.Val1023=)
c.3120G>T (p.Val1040=)
c.*2168G>T (n.*2168G>T)
c.*2219G>T (n.*2219G>T)
c.3102G>T (p.Val1034=)
c.2979G>T (p.Val993=)
c.2925G>T (p.Val975=)
c.2745G>T (p.Val915=)
c.2694G>T (p.Val898=)
c.3372G>T (p.Val1124=)
c.3021G>T (p.Val1007=)
c.3321G>T (p.Val1107=)
2g.120989035G>ACA348171260GLI2c.3070G>A (p.Ala1024Thr)
c.3121G>A (p.Ala1041Thr)
c.*2169G>A (n.*2169G>A)
c.*2220G>A (n.*2220G>A)
c.3103G>A (p.Ala1035Thr)
c.2980G>A (p.Ala994Thr)
c.2926G>A (p.Ala976Thr)
c.2746G>A (p.Ala916Thr)
c.2695G>A (p.Ala899Thr)
c.3373G>A (p.Ala1125Thr)
c.3022G>A (p.Ala1008Thr)
c.3322G>A (p.Ala1108Thr)
2g.120989035G>CCA348171262GLI2c.3070G>C (p.Ala1024Pro)
c.3121G>C (p.Ala1041Pro)
c.*2169G>C (n.*2169G>C)
c.*2220G>C (n.*2220G>C)
c.3103G>C (p.Ala1035Pro)
c.2980G>C (p.Ala994Pro)
c.2926G>C (p.Ala976Pro)
c.2746G>C (p.Ala916Pro)
c.2695G>C (p.Ala899Pro)
c.3373G>C (p.Ala1125Pro)
c.3022G>C (p.Ala1008Pro)
c.3322G>C (p.Ala1108Pro)
2g.120989035G=CA1283795427GLI2c.3070G= (p.Ala1024=)
c.3121G= (p.Ala1041=)
c.*2169G= (n.*2169G=)
c.*2220G= (n.*2220G=)
c.3103G= (p.Ala1035=)
c.2980G= (p.Ala994=)
c.2926G= (p.Ala976=)
c.2746G= (p.Ala916=)
c.2695G= (p.Ala899=)
c.3373G= (p.Ala1125=)
c.3022G= (p.Ala1008=)
c.3322G= (p.Ala1108=)
2g.120989035G>TCA348171263GLI2c.3070G>T (p.Ala1024Ser)
c.3121G>T (p.Ala1041Ser)
c.*2169G>T (n.*2169G>T)
c.*2220G>T (n.*2220G>T)
c.3103G>T (p.Ala1035Ser)
c.2980G>T (p.Ala994Ser)
c.2926G>T (p.Ala976Ser)
c.2746G>T (p.Ala916Ser)
c.2695G>T (p.Ala899Ser)
c.3373G>T (p.Ala1125Ser)
c.3022G>T (p.Ala1008Ser)
c.3322G>T (p.Ala1108Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.120989036C>ACA348171269GLI2c.3071C>A (p.Ala1024Glu)
c.3122C>A (p.Ala1041Glu)
c.*2170C>A (n.*2170C>A)
c.*2221C>A (n.*2221C>A)
c.3104C>A (p.Ala1035Glu)
c.2981C>A (p.Ala994Glu)
c.2927C>A (p.Ala976Glu)
c.2747C>A (p.Ala916Glu)
c.2696C>A (p.Ala899Glu)
c.3374C>A (p.Ala1125Glu)
c.3023C>A (p.Ala1008Glu)
c.3323C>A (p.Ala1108Glu)
 gnomAD v4
2g.120989036C=CA1283795428GLI2c.3071C= (p.Ala1024=)
c.3122C= (p.Ala1041=)
c.*2170C= (n.*2170C=)
c.*2221C= (n.*2221C=)
c.3104C= (p.Ala1035=)
c.2981C= (p.Ala994=)
c.2927C= (p.Ala976=)
c.2747C= (p.Ala916=)
c.2696C= (p.Ala899=)
c.3374C= (p.Ala1125=)
c.3023C= (p.Ala1008=)
c.3323C= (p.Ala1108=)
2g.120989036C>GCA54382192GLI2c.3071C>G (p.Ala1024Gly)
c.3122C>G (p.Ala1041Gly)
c.*2170C>G (n.*2170C>G)
c.*2221C>G (n.*2221C>G)
c.3104C>G (p.Ala1035Gly)
c.2981C>G (p.Ala994Gly)
c.2927C>G (p.Ala976Gly)
c.2747C>G (p.Ala916Gly)
c.2696C>G (p.Ala899Gly)
c.3374C>G (p.Ala1125Gly)
c.3023C>G (p.Ala1008Gly)
c.3323C>G (p.Ala1108Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.120989036C>TCA348171267GLI2c.3071C>T (p.Ala1024Val)
c.3122C>T (p.Ala1041Val)
c.*2170C>T (n.*2170C>T)
c.*2221C>T (n.*2221C>T)
c.3104C>T (p.Ala1035Val)
c.2981C>T (p.Ala994Val)
c.2927C>T (p.Ala976Val)
c.2747C>T (p.Ala916Val)
c.2696C>T (p.Ala899Val)
c.3374C>T (p.Ala1125Val)
c.3023C>T (p.Ala1008Val)
c.3323C>T (p.Ala1108Val)
 dbSNP gnomAD v3 gnomAD v4
2g.120989037G>ACA428749744GLI2c.3072G>A (p.Ala1024=)
c.3123G>A (p.Ala1041=)
c.*2171G>A (n.*2171G>A)
c.*2222G>A (n.*2222G>A)
c.3105G>A (p.Ala1035=)
c.2982G>A (p.Ala994=)
c.2928G>A (p.Ala976=)
c.2748G>A (p.Ala916=)
c.2697G>A (p.Ala899=)
c.3375G>A (p.Ala1125=)
c.3024G>A (p.Ala1008=)
c.3324G>A (p.Ala1108=)
 dbSNP gnomAD v2 gnomAD v4
2g.120989037G>CCA428749745GLI2c.3072G>C (p.Ala1024=)
c.3123G>C (p.Ala1041=)
c.*2171G>C (n.*2171G>C)
c.*2222G>C (n.*2222G>C)
c.3105G>C (p.Ala1035=)
c.2982G>C (p.Ala994=)
c.2928G>C (p.Ala976=)
c.2748G>C (p.Ala916=)
c.2697G>C (p.Ala899=)
c.3375G>C (p.Ala1125=)
c.3024G>C (p.Ala1008=)
c.3324G>C (p.Ala1108=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.120989037G=CA1283795429GLI2c.3072G= (p.Ala1024=)
c.3123G= (p.Ala1041=)
c.*2171G= (n.*2171G=)
c.*2222G= (n.*2222G=)
c.3105G= (p.Ala1035=)
c.2982G= (p.Ala994=)
c.2928G= (p.Ala976=)
c.2748G= (p.Ala916=)
c.2697G= (p.Ala899=)
c.3375G= (p.Ala1125=)
c.3024G= (p.Ala1008=)
c.3324G= (p.Ala1108=)
2g.120989037G>TCA428749746GLI2c.3072G>T (p.Ala1024=)
c.3123G>T (p.Ala1041=)
c.*2171G>T (n.*2171G>T)
c.*2222G>T (n.*2222G>T)
c.3105G>T (p.Ala1035=)
c.2982G>T (p.Ala994=)
c.2928G>T (p.Ala976=)
c.2748G>T (p.Ala916=)
c.2697G>T (p.Ala899=)
c.3375G>T (p.Ala1125=)
c.3024G>T (p.Ala1008=)
c.3324G>T (p.Ala1108=)
 gnomAD v4
2g.120989038G>ACA348171271GLI2c.3073G>A (p.Ala1025Thr)
c.3124G>A (p.Ala1042Thr)
c.*2172G>A (n.*2172G>A)
c.*2223G>A (n.*2223G>A)
c.3106G>A (p.Ala1036Thr)
c.2983G>A (p.Ala995Thr)
c.2929G>A (p.Ala977Thr)
c.2749G>A (p.Ala917Thr)
c.2698G>A (p.Ala900Thr)
c.3376G>A (p.Ala1126Thr)
c.3025G>A (p.Ala1009Thr)
c.3325G>A (p.Ala1109Thr)
 dbSNP gnomAD v2
2g.120989038G>CCA348171273GLI2c.3073G>C (p.Ala1025Pro)
c.3124G>C (p.Ala1042Pro)
c.*2172G>C (n.*2172G>C)
c.*2223G>C (n.*2223G>C)
c.3106G>C (p.Ala1036Pro)
c.2983G>C (p.Ala995Pro)
c.2929G>C (p.Ala977Pro)
c.2749G>C (p.Ala917Pro)
c.2698G>C (p.Ala900Pro)
c.3376G>C (p.Ala1126Pro)
c.3025G>C (p.Ala1009Pro)
c.3325G>C (p.Ala1109Pro)
2g.120989038G=CA1283795430GLI2c.3073G= (p.Ala1025=)
c.3124G= (p.Ala1042=)
c.*2172G= (n.*2172G=)
c.*2223G= (n.*2223G=)
c.3106G= (p.Ala1036=)
c.2983G= (p.Ala995=)
c.2929G= (p.Ala977=)
c.2749G= (p.Ala917=)
c.2698G= (p.Ala900=)
c.3376G= (p.Ala1126=)
c.3025G= (p.Ala1009=)
c.3325G= (p.Ala1109=)
2g.120989038G>TCA348171275GLI2c.3073G>T (p.Ala1025Ser)
c.3124G>T (p.Ala1042Ser)
c.*2172G>T (n.*2172G>T)
c.*2223G>T (n.*2223G>T)
c.3106G>T (p.Ala1036Ser)
c.2983G>T (p.Ala995Ser)
c.2929G>T (p.Ala977Ser)
c.2749G>T (p.Ala917Ser)
c.2698G>T (p.Ala900Ser)
c.3376G>T (p.Ala1126Ser)
c.3025G>T (p.Ala1009Ser)
c.3325G>T (p.Ala1109Ser)
 dbSNP
2g.120989039C>ACA348171278GLI2c.3074C>A (p.Ala1025Glu)
c.3125C>A (p.Ala1042Glu)
c.*2173C>A (n.*2173C>A)
c.*2224C>A (n.*2224C>A)
c.3107C>A (p.Ala1036Glu)
c.2984C>A (p.Ala995Glu)
c.2930C>A (p.Ala977Glu)
c.2750C>A (p.Ala917Glu)
c.2699C>A (p.Ala900Glu)
c.3377C>A (p.Ala1126Glu)
c.3026C>A (p.Ala1009Glu)
c.3326C>A (p.Ala1109Glu)
 gnomAD v4
2g.120989039C>GCA348171280GLI2c.3074C>G (p.Ala1025Gly)
c.3125C>G (p.Ala1042Gly)
c.*2173C>G (n.*2173C>G)
c.*2224C>G (n.*2224C>G)
c.3107C>G (p.Ala1036Gly)
c.2984C>G (p.Ala995Gly)
c.2930C>G (p.Ala977Gly)
c.2750C>G (p.Ala917Gly)
c.2699C>G (p.Ala900Gly)
c.3377C>G (p.Ala1126Gly)
c.3026C>G (p.Ala1009Gly)
c.3326C>G (p.Ala1109Gly)
2g.120989039C>TCA348171282GLI2c.3074C>T (p.Ala1025Val)
c.3125C>T (p.Ala1042Val)
c.*2173C>T (n.*2173C>T)
c.*2224C>T (n.*2224C>T)
c.3107C>T (p.Ala1036Val)
c.2984C>T (p.Ala995Val)
c.2930C>T (p.Ala977Val)
c.2750C>T (p.Ala917Val)
c.2699C>T (p.Ala900Val)
c.3377C>T (p.Ala1126Val)
c.3026C>T (p.Ala1009Val)
c.3326C>T (p.Ala1109Val)
2g.120989040A>CCA428749747GLI2c.3075A>C (p.Ala1025=)
c.3126A>C (p.Ala1042=)
c.*2174A>C (n.*2174A>C)
c.*2225A>C (n.*2225A>C)
c.3108A>C (p.Ala1036=)
c.2985A>C (p.Ala995=)
c.2931A>C (p.Ala977=)
c.2751A>C (p.Ala917=)
c.2700A>C (p.Ala900=)
c.3378A>C (p.Ala1126=)
c.3027A>C (p.Ala1009=)
c.3327A>C (p.Ala1109=)
2g.120989040A>GCA428749748GLI2c.3075A>G (p.Ala1025=)
c.3126A>G (p.Ala1042=)
c.*2174A>G (n.*2174A>G)
c.*2225A>G (n.*2225A>G)
c.3108A>G (p.Ala1036=)
c.2985A>G (p.Ala995=)
c.2931A>G (p.Ala977=)
c.2751A>G (p.Ala917=)
c.2700A>G (p.Ala900=)
c.3378A>G (p.Ala1126=)
c.3027A>G (p.Ala1009=)
c.3327A>G (p.Ala1109=)
2g.120989040A>TCA428749750GLI2c.3075A>T (p.Ala1025=)
c.3126A>T (p.Ala1042=)
c.*2174A>T (n.*2174A>T)
c.*2225A>T (n.*2225A>T)
c.3108A>T (p.Ala1036=)
c.2985A>T (p.Ala995=)
c.2931A>T (p.Ala977=)
c.2751A>T (p.Ala917=)
c.2700A>T (p.Ala900=)
c.3378A>T (p.Ala1126=)
c.3027A>T (p.Ala1009=)
c.3327A>T (p.Ala1109=)
2g.120989041G>ACA348171285GLI2c.3076G>A (p.Gly1026Arg)
c.3127G>A (p.Gly1043Arg)
c.*2175G>A (n.*2175G>A)
c.*2226G>A (n.*2226G>A)
c.3109G>A (p.Gly1037Arg)
c.2986G>A (p.Gly996Arg)
c.2932G>A (p.Gly978Arg)
c.2752G>A (p.Gly918Arg)
c.2701G>A (p.Gly901Arg)
c.3379G>A (p.Gly1127Arg)
c.3028G>A (p.Gly1010Arg)
c.3328G>A (p.Gly1110Arg)
2g.120989041G>CCA348171288GLI2c.3076G>C (p.Gly1026Arg)
c.3127G>C (p.Gly1043Arg)
c.*2175G>C (n.*2175G>C)
c.*2226G>C (n.*2226G>C)
c.3109G>C (p.Gly1037Arg)
c.2986G>C (p.Gly996Arg)
c.2932G>C (p.Gly978Arg)
c.2752G>C (p.Gly918Arg)
c.2701G>C (p.Gly901Arg)
c.3379G>C (p.Gly1127Arg)
c.3028G>C (p.Gly1010Arg)
c.3328G>C (p.Gly1110Arg)
2g.120989041G>TCA348171289GLI2c.3076G>T (p.Gly1026Ter)
c.3127G>T (p.Gly1043Ter)
c.*2175G>T (n.*2175G>T)
c.*2226G>T (n.*2226G>T)
c.3109G>T (p.Gly1037Ter)
c.2986G>T (p.Gly996Ter)
c.2932G>T (p.Gly978Ter)
c.2752G>T (p.Gly918Ter)
c.2701G>T (p.Gly901Ter)
c.3379G>T (p.Gly1127Ter)
c.3028G>T (p.Gly1010Ter)
c.3328G>T (p.Gly1110Ter)
2g.120989042G>ACA348171292GLI2c.3077G>A (p.Gly1026Glu)
c.3128G>A (p.Gly1043Glu)
c.*2176G>A (n.*2176G>A)
c.*2227G>A (n.*2227G>A)
c.3110G>A (p.Gly1037Glu)
c.2987G>A (p.Gly996Glu)
c.2933G>A (p.Gly978Glu)
c.2753G>A (p.Gly918Glu)
c.2702G>A (p.Gly901Glu)
c.3380G>A (p.Gly1127Glu)
c.3029G>A (p.Gly1010Glu)
c.3329G>A (p.Gly1110Glu)
2g.120989042G>CCA348171294GLI2c.3077G>C (p.Gly1026Ala)
c.3128G>C (p.Gly1043Ala)
c.*2176G>C (n.*2176G>C)
c.*2227G>C (n.*2227G>C)
c.3110G>C (p.Gly1037Ala)
c.2987G>C (p.Gly996Ala)
c.2933G>C (p.Gly978Ala)
c.2753G>C (p.Gly918Ala)
c.2702G>C (p.Gly901Ala)
c.3380G>C (p.Gly1127Ala)
c.3029G>C (p.Gly1010Ala)
c.3329G>C (p.Gly1110Ala)
2g.120989042G>TCA348171295GLI2c.3077G>T (p.Gly1026Val)
c.3128G>T (p.Gly1043Val)
c.*2176G>T (n.*2176G>T)
c.*2227G>T (n.*2227G>T)
c.3110G>T (p.Gly1037Val)
c.2987G>T (p.Gly996Val)
c.2933G>T (p.Gly978Val)
c.2753G>T (p.Gly918Val)
c.2702G>T (p.Gly901Val)
c.3380G>T (p.Gly1127Val)
c.3029G>T (p.Gly1010Val)
c.3329G>T (p.Gly1110Val)
2g.120989043A>CCA428749755GLI2c.3078A>C (p.Gly1026=)
c.3129A>C (p.Gly1043=)
c.*2177A>C (n.*2177A>C)
c.*2228A>C (n.*2228A>C)
c.3111A>C (p.Gly1037=)
c.2988A>C (p.Gly996=)
c.2934A>C (p.Gly978=)
c.2754A>C (p.Gly918=)
c.2703A>C (p.Gly901=)
c.3381A>C (p.Gly1127=)
c.3030A>C (p.Gly1010=)
c.3330A>C (p.Gly1110=)
2g.120989043A>GCA428749754GLI2c.3078A>G (p.Gly1026=)
c.3129A>G (p.Gly1043=)
c.*2177A>G (n.*2177A>G)
c.*2228A>G (n.*2228A>G)
c.3111A>G (p.Gly1037=)
c.2988A>G (p.Gly996=)
c.2934A>G (p.Gly978=)
c.2754A>G (p.Gly918=)
c.2703A>G (p.Gly901=)
c.3381A>G (p.Gly1127=)
c.3030A>G (p.Gly1010=)
c.3330A>G (p.Gly1110=)
2g.120989043A>TCA428749753GLI2c.3078A>T (p.Gly1026=)
c.3129A>T (p.Gly1043=)
c.*2177A>T (n.*2177A>T)
c.*2228A>T (n.*2228A>T)
c.3111A>T (p.Gly1037=)
c.2988A>T (p.Gly996=)
c.2934A>T (p.Gly978=)
c.2754A>T (p.Gly918=)
c.2703A>T (p.Gly901=)
c.3381A>T (p.Gly1127=)
c.3030A>T (p.Gly1010=)
c.3330A>T (p.Gly1110=)
2g.120989044G>ACA348171300GLI2c.3079G>A (p.Val1027Met)
c.3130G>A (p.Val1044Met)
c.*2178G>A (n.*2178G>A)
c.*2229G>A (n.*2229G>A)
c.3112G>A (p.Val1038Met)
c.2989G>A (p.Val997Met)
c.2935G>A (p.Val979Met)
c.2755G>A (p.Val919Met)
c.2704G>A (p.Val902Met)
c.3382G>A (p.Val1128Met)
c.3031G>A (p.Val1011Met)
c.3331G>A (p.Val1111Met)
2g.120989044G>CCA348171302GLI2c.3079G>C (p.Val1027Leu)
c.3130G>C (p.Val1044Leu)
c.*2178G>C (n.*2178G>C)
c.*2229G>C (n.*2229G>C)
c.3112G>C (p.Val1038Leu)
c.2989G>C (p.Val997Leu)
c.2935G>C (p.Val979Leu)
c.2755G>C (p.Val919Leu)
c.2704G>C (p.Val902Leu)
c.3382G>C (p.Val1128Leu)
c.3031G>C (p.Val1011Leu)
c.3331G>C (p.Val1111Leu)
2g.120989044G=CA1283795431GLI2c.3079G= (p.Val1027=)
c.3130G= (p.Val1044=)
c.*2178G= (n.*2178G=)
c.*2229G= (n.*2229G=)
c.3112G= (p.Val1038=)
c.2989G= (p.Val997=)
c.2935G= (p.Val979=)
c.2755G= (p.Val919=)
c.2704G= (p.Val902=)
c.3382G= (p.Val1128=)
c.3031G= (p.Val1011=)
c.3331G= (p.Val1111=)
2g.120989044G>TCA1852314GLI2c.3079G>T (p.Val1027Leu)
c.3130G>T (p.Val1044Leu)
c.*2178G>T (n.*2178G>T)
c.*2229G>T (n.*2229G>T)
c.3112G>T (p.Val1038Leu)
c.2989G>T (p.Val997Leu)
c.2935G>T (p.Val979Leu)
c.2755G>T (p.Val919Leu)
c.2704G>T (p.Val902Leu)
c.3382G>T (p.Val1128Leu)
c.3031G>T (p.Val1011Leu)
c.3331G>T (p.Val1111Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989045T>ACA348171309GLI2c.3080T>A (p.Val1027Glu)
c.3131T>A (p.Val1044Glu)
c.*2179T>A (n.*2179T>A)
c.*2230T>A (n.*2230T>A)
c.3113T>A (p.Val1038Glu)
c.2990T>A (p.Val997Glu)
c.2936T>A (p.Val979Glu)
c.2756T>A (p.Val919Glu)
c.2705T>A (p.Val902Glu)
c.3383T>A (p.Val1128Glu)
c.3032T>A (p.Val1011Glu)
c.3332T>A (p.Val1111Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.120989045T>CCA348171305GLI2c.3080T>C (p.Val1027Ala)
c.3131T>C (p.Val1044Ala)
c.*2179T>C (n.*2179T>C)
c.*2230T>C (n.*2230T>C)
c.3113T>C (p.Val1038Ala)
c.2990T>C (p.Val997Ala)
c.2936T>C (p.Val979Ala)
c.2756T>C (p.Val919Ala)
c.2705T>C (p.Val902Ala)
c.3383T>C (p.Val1128Ala)
c.3032T>C (p.Val1011Ala)
c.3332T>C (p.Val1111Ala)
2g.120989045T>GCA348171307GLI2c.3080T>G (p.Val1027Gly)
c.3131T>G (p.Val1044Gly)
c.*2179T>G (n.*2179T>G)
c.*2230T>G (n.*2230T>G)
c.3113T>G (p.Val1038Gly)
c.2990T>G (p.Val997Gly)
c.2936T>G (p.Val979Gly)
c.2756T>G (p.Val919Gly)
c.2705T>G (p.Val902Gly)
c.3383T>G (p.Val1128Gly)
c.3032T>G (p.Val1011Gly)
c.3332T>G (p.Val1111Gly)
2g.120989045T=CA1283795432GLI2c.3080T= (p.Val1027=)
c.3131T= (p.Val1044=)
c.*2179T= (n.*2179T=)
c.*2230T= (n.*2230T=)
c.3113T= (p.Val1038=)
c.2990T= (p.Val997=)
c.2936T= (p.Val979=)
c.2756T= (p.Val919=)
c.2705T= (p.Val902=)
c.3383T= (p.Val1128=)
c.3032T= (p.Val1011=)
c.3332T= (p.Val1111=)
2g.120989046G>ACA54382193GLI2c.3081G>A (p.Val1027=)
c.3132G>A (p.Val1044=)
c.*2180G>A (n.*2180G>A)
c.*2231G>A (n.*2231G>A)
c.3114G>A (p.Val1038=)
c.2991G>A (p.Val997=)
c.2937G>A (p.Val979=)
c.2757G>A (p.Val919=)
c.2706G>A (p.Val902=)
c.3384G>A (p.Val1128=)
c.3033G>A (p.Val1011=)
c.3333G>A (p.Val1111=)
 dbSNP gnomAD v4
2g.120989046G>CCA428749758GLI2c.3081G>C (p.Val1027=)
c.3132G>C (p.Val1044=)
c.*2180G>C (n.*2180G>C)
c.*2231G>C (n.*2231G>C)
c.3114G>C (p.Val1038=)
c.2991G>C (p.Val997=)
c.2937G>C (p.Val979=)
c.2757G>C (p.Val919=)
c.2706G>C (p.Val902=)
c.3384G>C (p.Val1128=)
c.3033G>C (p.Val1011=)
c.3333G>C (p.Val1111=)
2g.120989046G=CA1283795433GLI2c.3081G= (p.Val1027=)
c.3132G= (p.Val1044=)
c.*2180G= (n.*2180G=)
c.*2231G= (n.*2231G=)
c.3114G= (p.Val1038=)
c.2991G= (p.Val997=)
c.2937G= (p.Val979=)
c.2757G= (p.Val919=)
c.2706G= (p.Val902=)
c.3384G= (p.Val1128=)
c.3033G= (p.Val1011=)
c.3333G= (p.Val1111=)
2g.120989046G>TCA428749757GLI2c.3081G>T (p.Val1027=)
c.3132G>T (p.Val1044=)
c.*2180G>T (n.*2180G>T)
c.*2231G>T (n.*2231G>T)
c.3114G>T (p.Val1038=)
c.2991G>T (p.Val997=)
c.2937G>T (p.Val979=)
c.2757G>T (p.Val919=)
c.2706G>T (p.Val902=)
c.3384G>T (p.Val1128=)
c.3033G>T (p.Val1011=)
c.3333G>T (p.Val1111=)
2g.120989047G>ACA348171312GLI2c.3082G>A (p.Asp1028Asn)
c.3133G>A (p.Asp1045Asn)
c.*2181G>A (n.*2181G>A)
c.*2232G>A (n.*2232G>A)
c.3115G>A (p.Asp1039Asn)
c.2992G>A (p.Asp998Asn)
c.2938G>A (p.Asp980Asn)
c.2758G>A (p.Asp920Asn)
c.2707G>A (p.Asp903Asn)
c.3385G>A (p.Asp1129Asn)
c.3034G>A (p.Asp1012Asn)
c.3334G>A (p.Asp1112Asn)
2g.120989047G>CCA348171314GLI2c.3082G>C (p.Asp1028His)
c.3133G>C (p.Asp1045His)
c.*2181G>C (n.*2181G>C)
c.*2232G>C (n.*2232G>C)
c.3115G>C (p.Asp1039His)
c.2992G>C (p.Asp998His)
c.2938G>C (p.Asp980His)
c.2758G>C (p.Asp920His)
c.2707G>C (p.Asp903His)
c.3385G>C (p.Asp1129His)
c.3034G>C (p.Asp1012His)
c.3334G>C (p.Asp1112His)
 gnomAD v4
2g.120989047G>TCA348171316GLI2c.3082G>T (p.Asp1028Tyr)
c.3133G>T (p.Asp1045Tyr)
c.*2181G>T (n.*2181G>T)
c.*2232G>T (n.*2232G>T)
c.3115G>T (p.Asp1039Tyr)
c.2992G>T (p.Asp998Tyr)
c.2938G>T (p.Asp980Tyr)
c.2758G>T (p.Asp920Tyr)
c.2707G>T (p.Asp903Tyr)
c.3385G>T (p.Asp1129Tyr)
c.3034G>T (p.Asp1012Tyr)
c.3334G>T (p.Asp1112Tyr)
 gnomAD v4
2g.120989048A=CA1283795434GLI2c.3083A= (p.Asp1028=)
c.3134A= (p.Asp1045=)
c.*2182A= (n.*2182A=)
c.*2233A= (n.*2233A=)
c.3116A= (p.Asp1039=)
c.2993A= (p.Asp998=)
c.2939A= (p.Asp980=)
c.2759A= (p.Asp920=)
c.2708A= (p.Asp903=)
c.3386A= (p.Asp1129=)
c.3035A= (p.Asp1012=)
c.3335A= (p.Asp1112=)
2g.120989048A>CCA348171318GLI2c.3083A>C (p.Asp1028Ala)
c.3134A>C (p.Asp1045Ala)
c.*2182A>C (n.*2182A>C)
c.*2233A>C (n.*2233A>C)
c.3116A>C (p.Asp1039Ala)
c.2993A>C (p.Asp998Ala)
c.2939A>C (p.Asp980Ala)
c.2759A>C (p.Asp920Ala)
c.2708A>C (p.Asp903Ala)
c.3386A>C (p.Asp1129Ala)
c.3035A>C (p.Asp1012Ala)
c.3335A>C (p.Asp1112Ala)
2g.120989048A>GCA348171319GLI2c.3083A>G (p.Asp1028Gly)
c.3134A>G (p.Asp1045Gly)
c.*2182A>G (n.*2182A>G)
c.*2233A>G (n.*2233A>G)
c.3116A>G (p.Asp1039Gly)
c.2993A>G (p.Asp998Gly)
c.2939A>G (p.Asp980Gly)
c.2759A>G (p.Asp920Gly)
c.2708A>G (p.Asp903Gly)
c.3386A>G (p.Asp1129Gly)
c.3035A>G (p.Asp1012Gly)
c.3335A>G (p.Asp1112Gly)
 ClinVar
2g.120989048A>TCA348171320GLI2c.3083A>T (p.Asp1028Val)
c.3134A>T (p.Asp1045Val)
c.*2182A>T (n.*2182A>T)
c.*2233A>T (n.*2233A>T)
c.3116A>T (p.Asp1039Val)
c.2993A>T (p.Asp998Val)
c.2939A>T (p.Asp980Val)
c.2759A>T (p.Asp920Val)
c.2708A>T (p.Asp903Val)
c.3386A>T (p.Asp1129Val)
c.3035A>T (p.Asp1012Val)
c.3335A>T (p.Asp1112Val)
 dbSNP gnomAD v2 gnomAD v4
2g.120989049C>ACA348171323GLI2c.3084C>A (p.Asp1028Glu)
c.3135C>A (p.Asp1045Glu)
c.*2183C>A (n.*2183C>A)
c.*2234C>A (n.*2234C>A)
c.3117C>A (p.Asp1039Glu)
c.2994C>A (p.Asp998Glu)
c.2940C>A (p.Asp980Glu)
c.2760C>A (p.Asp920Glu)
c.2709C>A (p.Asp903Glu)
c.3387C>A (p.Asp1129Glu)
c.3036C>A (p.Asp1012Glu)
c.3336C>A (p.Asp1112Glu)
2g.120989049C=CA1283795435GLI2c.3084C= (p.Asp1028=)
c.3135C= (p.Asp1045=)
c.*2183C= (n.*2183C=)
c.*2234C= (n.*2234C=)
c.3117C= (p.Asp1039=)
c.2994C= (p.Asp998=)
c.2940C= (p.Asp980=)
c.2760C= (p.Asp920=)
c.2709C= (p.Asp903=)
c.3387C= (p.Asp1129=)
c.3036C= (p.Asp1012=)
c.3336C= (p.Asp1112=)
2g.120989049C>GCA348171325GLI2c.3084C>G (p.Asp1028Glu)
c.3135C>G (p.Asp1045Glu)
c.*2183C>G (n.*2183C>G)
c.*2234C>G (n.*2234C>G)
c.3117C>G (p.Asp1039Glu)
c.2994C>G (p.Asp998Glu)
c.2940C>G (p.Asp980Glu)
c.2760C>G (p.Asp920Glu)
c.2709C>G (p.Asp903Glu)
c.3387C>G (p.Asp1129Glu)
c.3036C>G (p.Asp1012Glu)
c.3336C>G (p.Asp1112Glu)
2g.120989049C>TCA1852315GLI2c.3084C>T (p.Asp1028=)
c.3135C>T (p.Asp1045=)
c.*2183C>T (n.*2183C>T)
c.*2234C>T (n.*2234C>T)
c.3117C>T (p.Asp1039=)
c.2994C>T (p.Asp998=)
c.2940C>T (p.Asp980=)
c.2760C>T (p.Asp920=)
c.2709C>T (p.Asp903=)
c.3387C>T (p.Asp1129=)
c.3036C>T (p.Asp1012=)
c.3336C>T (p.Asp1112=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.120989050G>ACA348171347GLI2c.3085G>A (p.Gly1029Ser)
c.3136G>A (p.Gly1046Ser)
c.*2184G>A (n.*2184G>A)
c.*2235G>A (n.*2235G>A)
c.3118G>A (p.Gly1040Ser)
c.2995G>A (p.Gly999Ser)
c.2941G>A (p.Gly981Ser)
c.2761G>A (p.Gly921Ser)
c.2710G>A (p.Gly904Ser)
c.3388G>A (p.Gly1130Ser)
c.3037G>A (p.Gly1013Ser)
c.3337G>A (p.Gly1113Ser)
 gnomAD v4
2g.120989050G>CCA348171337GLI2c.3085G>C (p.Gly1029Arg)
c.3136G>C (p.Gly1046Arg)
c.*2184G>C (n.*2184G>C)
c.*2235G>C (n.*2235G>C)
c.3118G>C (p.Gly1040Arg)
c.2995G>C (p.Gly999Arg)
c.2941G>C (p.Gly981Arg)
c.2761G>C (p.Gly921Arg)
c.2710G>C (p.Gly904Arg)
c.3388G>C (p.Gly1130Arg)
c.3037G>C (p.Gly1013Arg)
c.3337G>C (p.Gly1113Arg)
 gnomAD v4
2g.120989050G=CA1283795436GLI2c.3085G= (p.Gly1029=)
c.3136G= (p.Gly1046=)
c.*2184G= (n.*2184G=)
c.*2235G= (n.*2235G=)
c.3118G= (p.Gly1040=)
c.2995G= (p.Gly999=)
c.2941G= (p.Gly981=)
c.2761G= (p.Gly921=)
c.2710G= (p.Gly904=)
c.3388G= (p.Gly1130=)
c.3037G= (p.Gly1013=)
c.3337G= (p.Gly1113=)
2g.120989050G>TCA1852316GLI2c.3085G>T (p.Gly1029Cys)
c.3136G>T (p.Gly1046Cys)
c.*2184G>T (n.*2184G>T)
c.*2235G>T (n.*2235G>T)
c.3118G>T (p.Gly1040Cys)
c.2995G>T (p.Gly999Cys)
c.2941G>T (p.Gly981Cys)
c.2761G>T (p.Gly921Cys)
c.2710G>T (p.Gly904Cys)
c.3388G>T (p.Gly1130Cys)
c.3037G>T (p.Gly1013Cys)
c.3337G>T (p.Gly1113Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989051delCA2586969870GLI2c.3086del (p.Gly1029AlafsTer?)
c.3137del (p.Gly1046AlafsTer?)
c.*2185del (n.*2185del)
c.*2236del (n.*2236del)
c.3119del (p.Gly1040AlafsTer?)
c.2996del (p.Gly999AlafsTer?)
c.2942del (p.Gly981AlafsTer?)
c.2762del (p.Gly921AlafsTer?)
c.2711del (p.Gly904AlafsTer?)
c.3389del (p.Gly1130AlafsTer?)
c.3038del (p.Gly1013AlafsTer?)
c.3338del (p.Gly1113AlafsTer?)
2g.120989051G>ACA348171352GLI2c.3086G>A (p.Gly1029Asp)
c.3137G>A (p.Gly1046Asp)
c.*2185G>A (n.*2185G>A)
c.*2236G>A (n.*2236G>A)
c.3119G>A (p.Gly1040Asp)
c.2996G>A (p.Gly999Asp)
c.2942G>A (p.Gly981Asp)
c.2762G>A (p.Gly921Asp)
c.2711G>A (p.Gly904Asp)
c.3389G>A (p.Gly1130Asp)
c.3038G>A (p.Gly1013Asp)
c.3338G>A (p.Gly1113Asp)
2g.120989051G>CCA348171357GLI2c.3086G>C (p.Gly1029Ala)
c.3137G>C (p.Gly1046Ala)
c.*2185G>C (n.*2185G>C)
c.*2236G>C (n.*2236G>C)
c.3119G>C (p.Gly1040Ala)
c.2996G>C (p.Gly999Ala)
c.2942G>C (p.Gly981Ala)
c.2762G>C (p.Gly921Ala)
c.2711G>C (p.Gly904Ala)
c.3389G>C (p.Gly1130Ala)
c.3038G>C (p.Gly1013Ala)
c.3338G>C (p.Gly1113Ala)
2g.120989051G>TCA348171359GLI2c.3086G>T (p.Gly1029Val)
c.3137G>T (p.Gly1046Val)
c.*2185G>T (n.*2185G>T)
c.*2236G>T (n.*2236G>T)
c.3119G>T (p.Gly1040Val)
c.2996G>T (p.Gly999Val)
c.2942G>T (p.Gly981Val)
c.2762G>T (p.Gly921Val)
c.2711G>T (p.Gly904Val)
c.3389G>T (p.Gly1130Val)
c.3038G>T (p.Gly1013Val)
c.3338G>T (p.Gly1113Val)
2g.120989052C>ACA428749759GLI2c.3087C>A (p.Gly1029=)
c.3138C>A (p.Gly1046=)
c.*2186C>A (n.*2186C>A)
c.*2237C>A (n.*2237C>A)
c.3120C>A (p.Gly1040=)
c.2997C>A (p.Gly999=)
c.2943C>A (p.Gly981=)
c.2763C>A (p.Gly921=)
c.2712C>A (p.Gly904=)
c.3390C>A (p.Gly1130=)
c.3039C>A (p.Gly1013=)
c.3339C>A (p.Gly1113=)
2g.120989052C>GCA428749760GLI2c.3087C>G (p.Gly1029=)
c.3138C>G (p.Gly1046=)
c.*2186C>G (n.*2186C>G)
c.*2237C>G (n.*2237C>G)
c.3120C>G (p.Gly1040=)
c.2997C>G (p.Gly999=)
c.2943C>G (p.Gly981=)
c.2763C>G (p.Gly921=)
c.2712C>G (p.Gly904=)
c.3390C>G (p.Gly1130=)
c.3039C>G (p.Gly1013=)
c.3339C>G (p.Gly1113=)
2g.120989052C>TCA428749762GLI2c.3087C>T (p.Gly1029=)
c.3138C>T (p.Gly1046=)
c.*2186C>T (n.*2186C>T)
c.*2237C>T (n.*2237C>T)
c.3120C>T (p.Gly1040=)
c.2997C>T (p.Gly999=)
c.2943C>T (p.Gly981=)
c.2763C>T (p.Gly921=)
c.2712C>T (p.Gly904=)
c.3390C>T (p.Gly1130=)
c.3039C>T (p.Gly1013=)
c.3339C>T (p.Gly1113=)
 dbSNP gnomAD v3 gnomAD v4
2g.120989053G>ACA348171360GLI2c.3088G>A (p.Ala1030Thr)
c.3139G>A (p.Ala1047Thr)
c.*2187G>A (n.*2187G>A)
c.*2238G>A (n.*2238G>A)
c.3121G>A (p.Ala1041Thr)
c.2998G>A (p.Ala1000Thr)
c.2944G>A (p.Ala982Thr)
c.2764G>A (p.Ala922Thr)
c.2713G>A (p.Ala905Thr)
c.3391G>A (p.Ala1131Thr)
c.3040G>A (p.Ala1014Thr)
c.3340G>A (p.Ala1114Thr)
 dbSNP gnomAD v4 COSMIC
2g.120989053G>CCA348171361GLI2c.3088G>C (p.Ala1030Pro)
c.3139G>C (p.Ala1047Pro)
c.*2187G>C (n.*2187G>C)
c.*2238G>C (n.*2238G>C)
c.3121G>C (p.Ala1041Pro)
c.2998G>C (p.Ala1000Pro)
c.2944G>C (p.Ala982Pro)
c.2764G>C (p.Ala922Pro)
c.2713G>C (p.Ala905Pro)
c.3391G>C (p.Ala1131Pro)
c.3040G>C (p.Ala1014Pro)
c.3340G>C (p.Ala1114Pro)
2g.120989053G=CA1283795437GLI2c.3088G= (p.Ala1030=)
c.3139G= (p.Ala1047=)
c.*2187G= (n.*2187G=)
c.*2238G= (n.*2238G=)
c.3121G= (p.Ala1041=)
c.2998G= (p.Ala1000=)
c.2944G= (p.Ala982=)
c.2764G= (p.Ala922=)
c.2713G= (p.Ala905=)
c.3391G= (p.Ala1131=)
c.3040G= (p.Ala1014=)
c.3340G= (p.Ala1114=)
2g.120989053G>TCA348171362GLI2c.3088G>T (p.Ala1030Ser)
c.3139G>T (p.Ala1047Ser)
c.*2187G>T (n.*2187G>T)
c.*2238G>T (n.*2238G>T)
c.3121G>T (p.Ala1041Ser)
c.2998G>T (p.Ala1000Ser)
c.2944G>T (p.Ala982Ser)
c.2764G>T (p.Ala922Ser)
c.2713G>T (p.Ala905Ser)
c.3391G>T (p.Ala1131Ser)
c.3040G>T (p.Ala1014Ser)
c.3340G>T (p.Ala1114Ser)
 dbSNP gnomAD v4
2g.120989054C>ACA348171365GLI2c.3089C>A (p.Ala1030Glu)
c.3140C>A (p.Ala1047Glu)
c.*2188C>A (n.*2188C>A)
c.*2239C>A (n.*2239C>A)
c.3122C>A (p.Ala1041Glu)
c.2999C>A (p.Ala1000Glu)
c.2945C>A (p.Ala982Glu)
c.2765C>A (p.Ala922Glu)
c.2714C>A (p.Ala905Glu)
c.3392C>A (p.Ala1131Glu)
c.3041C>A (p.Ala1014Glu)
c.3341C>A (p.Ala1114Glu)
2g.120989054C>GCA348171366GLI2c.3089C>G (p.Ala1030Gly)
c.3140C>G (p.Ala1047Gly)
c.*2188C>G (n.*2188C>G)
c.*2239C>G (n.*2239C>G)
c.3122C>G (p.Ala1041Gly)
c.2999C>G (p.Ala1000Gly)
c.2945C>G (p.Ala982Gly)
c.2765C>G (p.Ala922Gly)
c.2714C>G (p.Ala905Gly)
c.3392C>G (p.Ala1131Gly)
c.3041C>G (p.Ala1014Gly)
c.3341C>G (p.Ala1114Gly)
2g.120989054C>TCA348171369GLI2c.3089C>T (p.Ala1030Val)
c.3140C>T (p.Ala1047Val)
c.*2188C>T (n.*2188C>T)
c.*2239C>T (n.*2239C>T)
c.3122C>T (p.Ala1041Val)
c.2999C>T (p.Ala1000Val)
c.2945C>T (p.Ala982Val)
c.2765C>T (p.Ala922Val)
c.2714C>T (p.Ala905Val)
c.3392C>T (p.Ala1131Val)
c.3041C>T (p.Ala1014Val)
c.3341C>T (p.Ala1114Val)
 gnomAD v4
2g.120989055G>ACA1852317GLI2c.3090G>A (p.Ala1030=)
c.3141G>A (p.Ala1047=)
c.*2189G>A (n.*2189G>A)
c.*2240G>A (n.*2240G>A)
c.3123G>A (p.Ala1041=)
c.3000G>A (p.Ala1000=)
c.2946G>A (p.Ala982=)
c.2766G>A (p.Ala922=)
c.2715G>A (p.Ala905=)
c.3393G>A (p.Ala1131=)
c.3042G>A (p.Ala1014=)
c.3342G>A (p.Ala1114=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.120989055G>CCA428749764GLI2c.3090G>C (p.Ala1030=)
c.3141G>C (p.Ala1047=)
c.*2189G>C (n.*2189G>C)
c.*2240G>C (n.*2240G>C)
c.3123G>C (p.Ala1041=)
c.3000G>C (p.Ala1000=)
c.2946G>C (p.Ala982=)
c.2766G>C (p.Ala922=)
c.2715G>C (p.Ala905=)
c.3393G>C (p.Ala1131=)
c.3042G>C (p.Ala1014=)
c.3342G>C (p.Ala1114=)
 dbSNP gnomAD v3 gnomAD v4
2g.120989055G=CA1283795438GLI2c.3090G= (p.Ala1030=)
c.3141G= (p.Ala1047=)
c.*2189G= (n.*2189G=)
c.*2240G= (n.*2240G=)
c.3123G= (p.Ala1041=)
c.3000G= (p.Ala1000=)
c.2946G= (p.Ala982=)
c.2766G= (p.Ala922=)
c.2715G= (p.Ala905=)
c.3393G= (p.Ala1131=)
c.3042G= (p.Ala1014=)
c.3342G= (p.Ala1114=)
2g.120989055G>TCA428749765GLI2c.3090G>T (p.Ala1030=)
c.3141G>T (p.Ala1047=)
c.*2189G>T (n.*2189G>T)
c.*2240G>T (n.*2240G>T)
c.3123G>T (p.Ala1041=)
c.3000G>T (p.Ala1000=)
c.2946G>T (p.Ala982=)
c.2766G>T (p.Ala922=)
c.2715G>T (p.Ala905=)
c.3393G>T (p.Ala1131=)
c.3042G>T (p.Ala1014=)
c.3342G>T (p.Ala1114=)
2g.120989058delCA2514693368GLI2c.3093del (p.Glu1033ArgfsTer?)
c.3144del (p.Glu1050ArgfsTer?)
c.*2192del (n.*2192del)
c.*2243del (n.*2243del)
c.3126del (p.Glu1044ArgfsTer?)
c.3003del (p.Glu1003ArgfsTer?)
c.2949del (p.Glu985ArgfsTer?)
c.2769del (p.Glu925ArgfsTer?)
c.2718del (p.Glu908ArgfsTer?)
c.3396del (p.Glu1134ArgfsTer?)
c.3045del (p.Glu1017ArgfsTer?)
c.3345del (p.Glu1117ArgfsTer?)
2g.120989056G>ACA54382217GLI2c.3091G>A (p.Gly1031Arg)
c.3142G>A (p.Gly1048Arg)
c.*2190G>A (n.*2190G>A)
c.*2241G>A (n.*2241G>A)
c.3124G>A (p.Gly1042Arg)
c.3001G>A (p.Gly1001Arg)
c.2947G>A (p.Gly983Arg)
c.2767G>A (p.Gly923Arg)
c.2716G>A (p.Gly906Arg)
c.3394G>A (p.Gly1132Arg)
c.3043G>A (p.Gly1015Arg)
c.3343G>A (p.Gly1115Arg)
 dbSNP gnomAD v2
2g.120989056G>CCA348171373GLI2c.3091G>C (p.Gly1031Arg)
c.3142G>C (p.Gly1048Arg)
c.*2190G>C (n.*2190G>C)
c.*2241G>C (n.*2241G>C)
c.3124G>C (p.Gly1042Arg)
c.3001G>C (p.Gly1001Arg)
c.2947G>C (p.Gly983Arg)
c.2767G>C (p.Gly923Arg)
c.2716G>C (p.Gly906Arg)
c.3394G>C (p.Gly1132Arg)
c.3043G>C (p.Gly1015Arg)
c.3343G>C (p.Gly1115Arg)
 gnomAD v4
2g.120989056G=CA1283795439GLI2c.3091G= (p.Gly1031=)
c.3142G= (p.Gly1048=)
c.*2190G= (n.*2190G=)
c.*2241G= (n.*2241G=)
c.3124G= (p.Gly1042=)
c.3001G= (p.Gly1001=)
c.2947G= (p.Gly983=)
c.2767G= (p.Gly923=)
c.2716G= (p.Gly906=)
c.3394G= (p.Gly1132=)
c.3043G= (p.Gly1015=)
c.3343G= (p.Gly1115=)
2g.120989056G>TCA348171375GLI2c.3091G>T (p.Gly1031Trp)
c.3142G>T (p.Gly1048Trp)
c.*2190G>T (n.*2190G>T)
c.*2241G>T (n.*2241G>T)
c.3124G>T (p.Gly1042Trp)
c.3001G>T (p.Gly1001Trp)
c.2947G>T (p.Gly983Trp)
c.2767G>T (p.Gly923Trp)
c.2716G>T (p.Gly906Trp)
c.3394G>T (p.Gly1132Trp)
c.3043G>T (p.Gly1015Trp)
c.3343G>T (p.Gly1115Trp)
2g.120989057G>ACA348171378GLI2c.3092G>A (p.Gly1031Glu)
c.3143G>A (p.Gly1048Glu)
c.*2191G>A (n.*2191G>A)
c.*2242G>A (n.*2242G>A)
c.3125G>A (p.Gly1042Glu)
c.3002G>A (p.Gly1001Glu)
c.2948G>A (p.Gly983Glu)
c.2768G>A (p.Gly923Glu)
c.2717G>A (p.Gly906Glu)
c.3395G>A (p.Gly1132Glu)
c.3044G>A (p.Gly1015Glu)
c.3344G>A (p.Gly1115Glu)
 dbSNP
2g.120989057G>CCA348171380GLI2c.3092G>C (p.Gly1031Ala)
c.3143G>C (p.Gly1048Ala)
c.*2191G>C (n.*2191G>C)
c.*2242G>C (n.*2242G>C)
c.3125G>C (p.Gly1042Ala)
c.3002G>C (p.Gly1001Ala)
c.2948G>C (p.Gly983Ala)
c.2768G>C (p.Gly923Ala)
c.2717G>C (p.Gly906Ala)
c.3395G>C (p.Gly1132Ala)
c.3044G>C (p.Gly1015Ala)
c.3344G>C (p.Gly1115Ala)
2g.120989057G=CA1283795440GLI2c.3092G= (p.Gly1031=)
c.3143G= (p.Gly1048=)
c.*2191G= (n.*2191G=)
c.*2242G= (n.*2242G=)
c.3125G= (p.Gly1042=)
c.3002G= (p.Gly1001=)
c.2948G= (p.Gly983=)
c.2768G= (p.Gly923=)
c.2717G= (p.Gly906=)
c.3395G= (p.Gly1132=)
c.3044G= (p.Gly1015=)
c.3344G= (p.Gly1115=)
2g.120989057G>TCA348171377GLI2c.3092G>T (p.Gly1031Val)
c.3143G>T (p.Gly1048Val)
c.*2191G>T (n.*2191G>T)
c.*2242G>T (n.*2242G>T)
c.3125G>T (p.Gly1042Val)
c.3002G>T (p.Gly1001Val)
c.2948G>T (p.Gly983Val)
c.2768G>T (p.Gly923Val)
c.2717G>T (p.Gly906Val)
c.3395G>T (p.Gly1132Val)
c.3044G>T (p.Gly1015Val)
c.3344G>T (p.Gly1115Val)
 ClinVar dbSNP gnomAD v4
2g.120989057_120989077dupCA2660922222GLI2c.3092_3112dup (p.Gly1037_Leu1038insArgProGluAlaAspLeuGly)
c.3143_3163dup (p.Gly1054_Leu1055insArgProGluAlaAspLeuGly)
c.*2191_*2211dup (n.*2191_*2211dup)
c.*2242_*2262dup (n.*2242_*2262dup)
c.3125_3145dup (p.Gly1048_Leu1049insArgProGluAlaAspLeuGly)
c.3002_3022dup (p.Gly1007_Leu1008insArgProGluAlaAspLeuGly)
c.2948_2968dup (p.Gly989_Leu990insArgProGluAlaAspLeuGly)
c.2768_2788dup (p.Gly929_Leu930insArgProGluAlaAspLeuGly)
c.2717_2737dup (p.Gly912_Leu913insArgProGluAlaAspLeuGly)
c.3395_3415dup (p.Gly1138_Leu1139insArgProGluAlaAspLeuGly)
c.3044_3064dup (p.Gly1021_Leu1022insArgProGluAlaAspLeuGly)
c.3344_3364dup (p.Gly1121_Leu1122insArgProGluAlaAspLeuGly)
 gnomAD v4
2g.120989058G>ACA428749767GLI2c.3093G>A (p.Gly1031=)
c.3144G>A (p.Gly1048=)
c.*2192G>A (n.*2192G>A)
c.*2243G>A (n.*2243G>A)
c.3126G>A (p.Gly1042=)
c.3003G>A (p.Gly1001=)
c.2949G>A (p.Gly983=)
c.2769G>A (p.Gly923=)
c.2718G>A (p.Gly906=)
c.3396G>A (p.Gly1132=)
c.3045G>A (p.Gly1015=)
c.3345G>A (p.Gly1115=)
 gnomAD v4
2g.120989058G>CCA428749768GLI2c.3093G>C (p.Gly1031=)
c.3144G>C (p.Gly1048=)
c.*2192G>C (n.*2192G>C)
c.*2243G>C (n.*2243G>C)
c.3126G>C (p.Gly1042=)
c.3003G>C (p.Gly1001=)
c.2949G>C (p.Gly983=)
c.2769G>C (p.Gly923=)
c.2718G>C (p.Gly906=)
c.3396G>C (p.Gly1132=)
c.3045G>C (p.Gly1015=)
c.3345G>C (p.Gly1115=)
2g.120989058G>TCA428749769GLI2c.3093G>T (p.Gly1031=)
c.3144G>T (p.Gly1048=)
c.*2192G>T (n.*2192G>T)
c.*2243G>T (n.*2243G>T)
c.3126G>T (p.Gly1042=)
c.3003G>T (p.Gly1001=)
c.2949G>T (p.Gly983=)
c.2769G>T (p.Gly923=)
c.2718G>T (p.Gly906=)
c.3396G>T (p.Gly1132=)
c.3045G>T (p.Gly1015=)
c.3345G>T (p.Gly1115=)
2g.120989059C>ACA348172414GLI2c.3094C>A (p.Pro1032Thr)
c.3145C>A (p.Pro1049Thr)
c.*2193C>A (n.*2193C>A)
c.*2244C>A (n.*2244C>A)
c.3127C>A (p.Pro1043Thr)
c.3004C>A (p.Pro1002Thr)
c.2950C>A (p.Pro984Thr)
c.2770C>A (p.Pro924Thr)
c.2719C>A (p.Pro907Thr)
c.3397C>A (p.Pro1133Thr)
c.3046C>A (p.Pro1016Thr)
c.3346C>A (p.Pro1116Thr)
2g.120989059C=CA1283795441GLI2c.3094C= (p.Pro1032=)
c.3145C= (p.Pro1049=)
c.*2193C= (n.*2193C=)
c.*2244C= (n.*2244C=)
c.3127C= (p.Pro1043=)
c.3004C= (p.Pro1002=)
c.2950C= (p.Pro984=)
c.2770C= (p.Pro924=)
c.2719C= (p.Pro907=)
c.3397C= (p.Pro1133=)
c.3046C= (p.Pro1016=)
c.3346C= (p.Pro1116=)
2g.120989059C>GCA348172415GLI2c.3094C>G (p.Pro1032Ala)
c.3145C>G (p.Pro1049Ala)
c.*2193C>G (n.*2193C>G)
c.*2244C>G (n.*2244C>G)
c.3127C>G (p.Pro1043Ala)
c.3004C>G (p.Pro1002Ala)
c.2950C>G (p.Pro984Ala)
c.2770C>G (p.Pro924Ala)
c.2719C>G (p.Pro907Ala)
c.3397C>G (p.Pro1133Ala)
c.3046C>G (p.Pro1016Ala)
c.3346C>G (p.Pro1116Ala)
2g.120989059C>TCA54383864GLI2c.3094C>T (p.Pro1032Ser)
c.3145C>T (p.Pro1049Ser)
c.*2193C>T (n.*2193C>T)
c.*2244C>T (n.*2244C>T)
c.3127C>T (p.Pro1043Ser)
c.3004C>T (p.Pro1002Ser)
c.2950C>T (p.Pro984Ser)
c.2770C>T (p.Pro924Ser)
c.2719C>T (p.Pro907Ser)
c.3397C>T (p.Pro1133Ser)
c.3046C>T (p.Pro1016Ser)
c.3346C>T (p.Pro1116Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989060C>ACA348172416GLI2c.3095C>A (p.Pro1032His)
c.3146C>A (p.Pro1049His)
c.*2194C>A (n.*2194C>A)
c.*2245C>A (n.*2245C>A)
c.3128C>A (p.Pro1043His)
c.3005C>A (p.Pro1002His)
c.2951C>A (p.Pro984His)
c.2771C>A (p.Pro924His)
c.2720C>A (p.Pro907His)
c.3398C>A (p.Pro1133His)
c.3047C>A (p.Pro1016His)
c.3347C>A (p.Pro1116His)
2g.120989060C=CA1283795442GLI2c.3095C= (p.Pro1032=)
c.3146C= (p.Pro1049=)
c.*2194C= (n.*2194C=)
c.*2245C= (n.*2245C=)
c.3128C= (p.Pro1043=)
c.3005C= (p.Pro1002=)
c.2951C= (p.Pro984=)
c.2771C= (p.Pro924=)
c.2720C= (p.Pro907=)
c.3398C= (p.Pro1133=)
c.3047C= (p.Pro1016=)
c.3347C= (p.Pro1116=)
2g.120989060C>GCA348172417GLI2c.3095C>G (p.Pro1032Arg)
c.3146C>G (p.Pro1049Arg)
c.*2194C>G (n.*2194C>G)
c.*2245C>G (n.*2245C>G)
c.3128C>G (p.Pro1043Arg)
c.3005C>G (p.Pro1002Arg)
c.2951C>G (p.Pro984Arg)
c.2771C>G (p.Pro924Arg)
c.2720C>G (p.Pro907Arg)
c.3398C>G (p.Pro1133Arg)
c.3047C>G (p.Pro1016Arg)
c.3347C>G (p.Pro1116Arg)
2g.120989060C>TCA348172418GLI2c.3095C>T (p.Pro1032Leu)
c.3146C>T (p.Pro1049Leu)
c.*2194C>T (n.*2194C>T)
c.*2245C>T (n.*2245C>T)
c.3128C>T (p.Pro1043Leu)
c.3005C>T (p.Pro1002Leu)
c.2951C>T (p.Pro984Leu)
c.2771C>T (p.Pro924Leu)
c.2720C>T (p.Pro907Leu)
c.3398C>T (p.Pro1133Leu)
c.3047C>T (p.Pro1016Leu)
c.3347C>T (p.Pro1116Leu)
 dbSNP gnomAD v4
2g.120989061C>ACA428749674GLI2c.3096C>A (p.Pro1032=)
c.3147C>A (p.Pro1049=)
c.*2195C>A (n.*2195C>A)
c.*2246C>A (n.*2246C>A)
c.3129C>A (p.Pro1043=)
c.3006C>A (p.Pro1002=)
c.2952C>A (p.Pro984=)
c.2772C>A (p.Pro924=)
c.2721C>A (p.Pro907=)
c.3399C>A (p.Pro1133=)
c.3048C>A (p.Pro1016=)
c.3348C>A (p.Pro1116=)
2g.120989061C=CA1283795443GLI2c.3096C= (p.Pro1032=)
c.3147C= (p.Pro1049=)
c.*2195C= (n.*2195C=)
c.*2246C= (n.*2246C=)
c.3129C= (p.Pro1043=)
c.3006C= (p.Pro1002=)
c.2952C= (p.Pro984=)
c.2772C= (p.Pro924=)
c.2721C= (p.Pro907=)
c.3399C= (p.Pro1133=)
c.3048C= (p.Pro1016=)
c.3348C= (p.Pro1116=)
2g.120989061C>GCA1852318GLI2c.3096C>G (p.Pro1032=)
c.3147C>G (p.Pro1049=)
c.*2195C>G (n.*2195C>G)
c.*2246C>G (n.*2246C>G)
c.3129C>G (p.Pro1043=)
c.3006C>G (p.Pro1002=)
c.2952C>G (p.Pro984=)
c.2772C>G (p.Pro924=)
c.2721C>G (p.Pro907=)
c.3399C>G (p.Pro1133=)
c.3048C>G (p.Pro1016=)
c.3348C>G (p.Pro1116=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989061C>TCA428749675GLI2c.3096C>T (p.Pro1032=)
c.3147C>T (p.Pro1049=)
c.*2195C>T (n.*2195C>T)
c.*2246C>T (n.*2246C>T)
c.3129C>T (p.Pro1043=)
c.3006C>T (p.Pro1002=)
c.2952C>T (p.Pro984=)
c.2772C>T (p.Pro924=)
c.2721C>T (p.Pro907=)
c.3399C>T (p.Pro1133=)
c.3048C>T (p.Pro1016=)
c.3348C>T (p.Pro1116=)
 dbSNP gnomAD v3 gnomAD v4
2g.120989062G>ACA54383872GLI2c.3097G>A (p.Glu1033Lys)
c.3148G>A (p.Glu1050Lys)
c.*2196G>A (n.*2196G>A)
c.*2247G>A (n.*2247G>A)
c.3130G>A (p.Glu1044Lys)
c.3007G>A (p.Glu1003Lys)
c.2953G>A (p.Glu985Lys)
c.2773G>A (p.Glu925Lys)
c.2722G>A (p.Glu908Lys)
c.3400G>A (p.Glu1134Lys)
c.3049G>A (p.Glu1017Lys)
c.3349G>A (p.Glu1117Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.120989062G>CCA348172419GLI2c.3097G>C (p.Glu1033Gln)
c.3148G>C (p.Glu1050Gln)
c.*2196G>C (n.*2196G>C)
c.*2247G>C (n.*2247G>C)
c.3130G>C (p.Glu1044Gln)
c.3007G>C (p.Glu1003Gln)
c.2953G>C (p.Glu985Gln)
c.2773G>C (p.Glu925Gln)
c.2722G>C (p.Glu908Gln)
c.3400G>C (p.Glu1134Gln)
c.3049G>C (p.Glu1017Gln)
c.3349G>C (p.Glu1117Gln)
2g.120989062G=CA1283795444GLI2c.3097G= (p.Glu1033=)
c.3148G= (p.Glu1050=)
c.*2196G= (n.*2196G=)
c.*2247G= (n.*2247G=)
c.3130G= (p.Glu1044=)
c.3007G= (p.Glu1003=)
c.2953G= (p.Glu985=)
c.2773G= (p.Glu925=)
c.2722G= (p.Glu908=)
c.3400G= (p.Glu1134=)
c.3049G= (p.Glu1017=)
c.3349G= (p.Glu1117=)
2g.120989062G>TCA348172420GLI2c.3097G>T (p.Glu1033Ter)
c.3148G>T (p.Glu1050Ter)
c.*2196G>T (n.*2196G>T)
c.*2247G>T (n.*2247G>T)
c.3130G>T (p.Glu1044Ter)
c.3007G>T (p.Glu1003Ter)
c.2953G>T (p.Glu985Ter)
c.2773G>T (p.Glu925Ter)
c.2722G>T (p.Glu908Ter)
c.3400G>T (p.Glu1134Ter)
c.3049G>T (p.Glu1017Ter)
c.3349G>T (p.Glu1117Ter)
2g.120989066_120989086dupCA2660922223GLI2c.3101_3121dup (p.Glu1040_Asp1041insAlaAspLeuGlyLeuProGlu)
c.3152_3172dup (p.Glu1057_Asp1058insAlaAspLeuGlyLeuProGlu)
c.*2200_*2220dup (n.*2200_*2220dup)
c.*2251_*2271dup (n.*2251_*2271dup)
c.3134_3154dup (p.Glu1051_Asp1052insAlaAspLeuGlyLeuProGlu)
c.3011_3031dup (p.Glu1010_Asp1011insAlaAspLeuGlyLeuProGlu)
c.2957_2977dup (p.Glu992_Asp993insAlaAspLeuGlyLeuProGlu)
c.2777_2797dup (p.Glu932_Asp933insAlaAspLeuGlyLeuProGlu)
c.2726_2746dup (p.Glu915_Asp916insAlaAspLeuGlyLeuProGlu)
c.3404_3424dup (p.Glu1141_Asp1142insAlaAspLeuGlyLeuProGlu)
c.3053_3073dup (p.Glu1024_Asp1025insAlaAspLeuGlyLeuProGlu)
c.3353_3373dup (p.Glu1124_Asp1125insAlaAspLeuGlyLeuProGlu)
 gnomAD v4
2g.120989066_120989086delCA2660922224GLI2c.3101_3121del (p.Ala1034_Glu1040del)
c.3152_3172del (p.Ala1051_Glu1057del)
c.*2200_*2220del (n.*2200_*2220del)
c.*2251_*2271del (n.*2251_*2271del)
c.3134_3154del (p.Ala1045_Glu1051del)
c.3011_3031del (p.Ala1004_Glu1010del)
c.2957_2977del (p.Ala986_Glu992del)
c.2777_2797del (p.Ala926_Glu932del)
c.2726_2746del (p.Ala909_Glu915del)
c.3404_3424del (p.Ala1135_Glu1141del)
c.3053_3073del (p.Ala1018_Glu1024del)
c.3353_3373del (p.Ala1118_Glu1124del)
 gnomAD v4
2g.120989063A>CCA348172421GLI2c.3098A>C (p.Glu1033Ala)
c.3149A>C (p.Glu1050Ala)
c.*2197A>C (n.*2197A>C)
c.*2248A>C (n.*2248A>C)
c.3131A>C (p.Glu1044Ala)
c.3008A>C (p.Glu1003Ala)
c.2954A>C (p.Glu985Ala)
c.2774A>C (p.Glu925Ala)
c.2723A>C (p.Glu908Ala)
c.3401A>C (p.Glu1134Ala)
c.3050A>C (p.Glu1017Ala)
c.3350A>C (p.Glu1117Ala)
2g.120989063A>GCA348172422GLI2c.3098A>G (p.Glu1033Gly)
c.3149A>G (p.Glu1050Gly)
c.*2197A>G (n.*2197A>G)
c.*2248A>G (n.*2248A>G)
c.3131A>G (p.Glu1044Gly)
c.3008A>G (p.Glu1003Gly)
c.2954A>G (p.Glu985Gly)
c.2774A>G (p.Glu925Gly)
c.2723A>G (p.Glu908Gly)
c.3401A>G (p.Glu1134Gly)
c.3050A>G (p.Glu1017Gly)
c.3350A>G (p.Glu1117Gly)
2g.120989063A>TCA348172423GLI2c.3098A>T (p.Glu1033Val)
c.3149A>T (p.Glu1050Val)
c.*2197A>T (n.*2197A>T)
c.*2248A>T (n.*2248A>T)
c.3131A>T (p.Glu1044Val)
c.3008A>T (p.Glu1003Val)
c.2954A>T (p.Glu985Val)
c.2774A>T (p.Glu925Val)
c.2723A>T (p.Glu908Val)
c.3401A>T (p.Glu1134Val)
c.3050A>T (p.Glu1017Val)
c.3350A>T (p.Glu1117Val)
2g.120989063_120989067delCA2514460333GLI2c.3098_3102del (p.Glu1033GlyfsTer?)
c.3149_3153del (p.Glu1050GlyfsTer?)
c.*2197_*2201del (n.*2197_*2201del)
c.*2248_*2252del (n.*2248_*2252del)
c.3131_3135del (p.Glu1044GlyfsTer?)
c.3008_3012del (p.Glu1003GlyfsTer?)
c.2954_2958del (p.Glu985GlyfsTer?)
c.2774_2778del (p.Glu925GlyfsTer?)
c.2723_2727del (p.Glu908GlyfsTer?)
c.3401_3405del (p.Glu1134GlyfsTer?)
c.3050_3054del (p.Glu1017GlyfsTer?)
c.3350_3354del (p.Glu1117GlyfsTer?)
2g.120989064G>ACA1852319GLI2c.3099G>A (p.Glu1033=)
c.3150G>A (p.Glu1050=)
c.*2198G>A (n.*2198G>A)
c.*2249G>A (n.*2249G>A)
c.3132G>A (p.Glu1044=)
c.3009G>A (p.Glu1003=)
c.2955G>A (p.Glu985=)
c.2775G>A (p.Glu925=)
c.2724G>A (p.Glu908=)
c.3402G>A (p.Glu1134=)
c.3051G>A (p.Glu1017=)
c.3351G>A (p.Glu1117=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989064G>CCA348172426GLI2c.3099G>C (p.Glu1033Asp)
c.3150G>C (p.Glu1050Asp)
c.*2198G>C (n.*2198G>C)
c.*2249G>C (n.*2249G>C)
c.3132G>C (p.Glu1044Asp)
c.3009G>C (p.Glu1003Asp)
c.2955G>C (p.Glu985Asp)
c.2775G>C (p.Glu925Asp)
c.2724G>C (p.Glu908Asp)
c.3402G>C (p.Glu1134Asp)
c.3051G>C (p.Glu1017Asp)
c.3351G>C (p.Glu1117Asp)
2g.120989064G=CA1283795445GLI2c.3099G= (p.Glu1033=)
c.3150G= (p.Glu1050=)
c.*2198G= (n.*2198G=)
c.*2249G= (n.*2249G=)
c.3132G= (p.Glu1044=)
c.3009G= (p.Glu1003=)
c.2955G= (p.Glu985=)
c.2775G= (p.Glu925=)
c.2724G= (p.Glu908=)
c.3402G= (p.Glu1134=)
c.3051G= (p.Glu1017=)
c.3351G= (p.Glu1117=)
2g.120989064G>TCA348172425GLI2c.3099G>T (p.Glu1033Asp)
c.3150G>T (p.Glu1050Asp)
c.*2198G>T (n.*2198G>T)
c.*2249G>T (n.*2249G>T)
c.3132G>T (p.Glu1044Asp)
c.3009G>T (p.Glu1003Asp)
c.2955G>T (p.Glu985Asp)
c.2775G>T (p.Glu925Asp)
c.2724G>T (p.Glu908Asp)
c.3402G>T (p.Glu1134Asp)
c.3051G>T (p.Glu1017Asp)
c.3351G>T (p.Glu1117Asp)
 dbSNP gnomAD v4
2g.120989065G>ACA348172427GLI2c.3100G>A (p.Ala1034Thr)
c.3151G>A (p.Ala1051Thr)
c.*2199G>A (n.*2199G>A)
c.*2250G>A (n.*2250G>A)
c.3133G>A (p.Ala1045Thr)
c.3010G>A (p.Ala1004Thr)
c.2956G>A (p.Ala986Thr)
c.2776G>A (p.Ala926Thr)
c.2725G>A (p.Ala909Thr)
c.3403G>A (p.Ala1135Thr)
c.3052G>A (p.Ala1018Thr)
c.3352G>A (p.Ala1118Thr)
2g.120989065G>CCA348172428GLI2c.3100G>C (p.Ala1034Pro)
c.3151G>C (p.Ala1051Pro)
c.*2199G>C (n.*2199G>C)
c.*2250G>C (n.*2250G>C)
c.3133G>C (p.Ala1045Pro)
c.3010G>C (p.Ala1004Pro)
c.2956G>C (p.Ala986Pro)
c.2776G>C (p.Ala926Pro)
c.2725G>C (p.Ala909Pro)
c.3403G>C (p.Ala1135Pro)
c.3052G>C (p.Ala1018Pro)
c.3352G>C (p.Ala1118Pro)
2g.120989065G>TCA348172429GLI2c.3100G>T (p.Ala1034Ser)
c.3151G>T (p.Ala1051Ser)
c.*2199G>T (n.*2199G>T)
c.*2250G>T (n.*2250G>T)
c.3133G>T (p.Ala1045Ser)
c.3010G>T (p.Ala1004Ser)
c.2956G>T (p.Ala986Ser)
c.2776G>T (p.Ala926Ser)
c.2725G>T (p.Ala909Ser)
c.3403G>T (p.Ala1135Ser)
c.3052G>T (p.Ala1018Ser)
c.3352G>T (p.Ala1118Ser)
2g.120989066C>ACA348172430GLI2c.3101C>A (p.Ala1034Asp)
c.3152C>A (p.Ala1051Asp)
c.*2200C>A (n.*2200C>A)
c.*2251C>A (n.*2251C>A)
c.3134C>A (p.Ala1045Asp)
c.3011C>A (p.Ala1004Asp)
c.2957C>A (p.Ala986Asp)
c.2777C>A (p.Ala926Asp)
c.2726C>A (p.Ala909Asp)
c.3404C>A (p.Ala1135Asp)
c.3053C>A (p.Ala1018Asp)
c.3353C>A (p.Ala1118Asp)
2g.120989066C=CA1283795446GLI2c.3101C= (p.Ala1034=)
c.3152C= (p.Ala1051=)
c.*2200C= (n.*2200C=)
c.*2251C= (n.*2251C=)
c.3134C= (p.Ala1045=)
c.3011C= (p.Ala1004=)
c.2957C= (p.Ala986=)
c.2777C= (p.Ala926=)
c.2726C= (p.Ala909=)
c.3404C= (p.Ala1135=)
c.3053C= (p.Ala1018=)
c.3353C= (p.Ala1118=)
2g.120989066C>GCA348172432GLI2c.3101C>G (p.Ala1034Gly)
c.3152C>G (p.Ala1051Gly)
c.*2200C>G (n.*2200C>G)
c.*2251C>G (n.*2251C>G)
c.3134C>G (p.Ala1045Gly)
c.3011C>G (p.Ala1004Gly)
c.2957C>G (p.Ala986Gly)
c.2777C>G (p.Ala926Gly)
c.2726C>G (p.Ala909Gly)
c.3404C>G (p.Ala1135Gly)
c.3053C>G (p.Ala1018Gly)
c.3353C>G (p.Ala1118Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.120989066C>TCA348172434GLI2c.3101C>T (p.Ala1034Val)
c.3152C>T (p.Ala1051Val)
c.*2200C>T (n.*2200C>T)
c.*2251C>T (n.*2251C>T)
c.3134C>T (p.Ala1045Val)
c.3011C>T (p.Ala1004Val)
c.2957C>T (p.Ala986Val)
c.2777C>T (p.Ala926Val)
c.2726C>T (p.Ala909Val)
c.3404C>T (p.Ala1135Val)
c.3053C>T (p.Ala1018Val)
c.3353C>T (p.Ala1118Val)
 dbSNP
2g.120989067C>ACA428749679GLI2c.3102C>A (p.Ala1034=)
c.3153C>A (p.Ala1051=)
c.*2201C>A (n.*2201C>A)
c.*2252C>A (n.*2252C>A)
c.3135C>A (p.Ala1045=)
c.3012C>A (p.Ala1004=)
c.2958C>A (p.Ala986=)
c.2778C>A (p.Ala926=)
c.2727C>A (p.Ala909=)
c.3405C>A (p.Ala1135=)
c.3054C>A (p.Ala1018=)
c.3354C>A (p.Ala1118=)
 dbSNP
2g.120989067C=CA1283795447GLI2c.3102C= (p.Ala1034=)
c.3153C= (p.Ala1051=)
c.*2201C= (n.*2201C=)
c.*2252C= (n.*2252C=)
c.3135C= (p.Ala1045=)
c.3012C= (p.Ala1004=)
c.2958C= (p.Ala986=)
c.2778C= (p.Ala926=)
c.2727C= (p.Ala909=)
c.3405C= (p.Ala1135=)
c.3054C= (p.Ala1018=)
c.3354C= (p.Ala1118=)
2g.120989067C>GCA428749680GLI2c.3102C>G (p.Ala1034=)
c.3153C>G (p.Ala1051=)
c.*2201C>G (n.*2201C>G)
c.*2252C>G (n.*2252C>G)
c.3135C>G (p.Ala1045=)
c.3012C>G (p.Ala1004=)
c.2958C>G (p.Ala986=)
c.2778C>G (p.Ala926=)
c.2727C>G (p.Ala909=)
c.3405C>G (p.Ala1135=)
c.3054C>G (p.Ala1018=)
c.3354C>G (p.Ala1118=)
2g.120989067C>TCA428749682GLI2c.3102C>T (p.Ala1034=)
c.3153C>T (p.Ala1051=)
c.*2201C>T (n.*2201C>T)
c.*2252C>T (n.*2252C>T)
c.3135C>T (p.Ala1045=)
c.3012C>T (p.Ala1004=)
c.2958C>T (p.Ala986=)
c.2778C>T (p.Ala926=)
c.2727C>T (p.Ala909=)
c.3405C>T (p.Ala1135=)
c.3054C>T (p.Ala1018=)
c.3354C>T (p.Ala1118=)
 dbSNP gnomAD v4
2g.120989075_120989095delCA2660922225GLI2c.3110_3130del (p.Gly1037_Leu1043del)
c.3161_3181del (p.Gly1054_Leu1060del)
c.*2209_*2229del (n.*2209_*2229del)
c.*2260_*2280del (n.*2260_*2280del)
c.3143_3163del (p.Gly1048_Leu1054del)
c.3020_3040del (p.Gly1007_Leu1013del)
c.2966_2986del (p.Gly989_Leu995del)
c.2786_2806del (p.Gly929_Leu935del)
c.2735_2755del (p.Gly912_Leu918del)
c.3413_3433del (p.Gly1138_Leu1144del)
c.3062_3082del (p.Gly1021_Leu1027del)
c.3362_3382del (p.Gly1121_Leu1127del)
 gnomAD v4
2g.120989068G>ACA348172438GLI2c.3103G>A (p.Asp1035Asn)
c.3154G>A (p.Asp1052Asn)
c.*2202G>A (n.*2202G>A)
c.*2253G>A (n.*2253G>A)
c.3136G>A (p.Asp1046Asn)
c.3013G>A (p.Asp1005Asn)
c.2959G>A (p.Asp987Asn)
c.2779G>A (p.Asp927Asn)
c.2728G>A (p.Asp910Asn)
c.3406G>A (p.Asp1136Asn)
c.3055G>A (p.Asp1019Asn)
c.3355G>A (p.Asp1119Asn)
 gnomAD v4
2g.120989068G>CCA348172440GLI2c.3103G>C (p.Asp1035His)
c.3154G>C (p.Asp1052His)
c.*2202G>C (n.*2202G>C)
c.*2253G>C (n.*2253G>C)
c.3136G>C (p.Asp1046His)
c.3013G>C (p.Asp1005His)
c.2959G>C (p.Asp987His)
c.2779G>C (p.Asp927His)
c.2728G>C (p.Asp910His)
c.3406G>C (p.Asp1136His)
c.3055G>C (p.Asp1019His)
c.3355G>C (p.Asp1119His)
 gnomAD v4
2g.120989068G=CA1283795448GLI2c.3103G= (p.Asp1035=)
c.3154G= (p.Asp1052=)
c.*2202G= (n.*2202G=)
c.*2253G= (n.*2253G=)
c.3136G= (p.Asp1046=)
c.3013G= (p.Asp1005=)
c.2959G= (p.Asp987=)
c.2779G= (p.Asp927=)
c.2728G= (p.Asp910=)
c.3406G= (p.Asp1136=)
c.3055G= (p.Asp1019=)
c.3355G= (p.Asp1119=)
2g.120989068G>TCA1852320GLI2c.3103G>T (p.Asp1035Tyr)
c.3154G>T (p.Asp1052Tyr)
c.*2202G>T (n.*2202G>T)
c.*2253G>T (n.*2253G>T)
c.3136G>T (p.Asp1046Tyr)
c.3013G>T (p.Asp1005Tyr)
c.2959G>T (p.Asp987Tyr)
c.2779G>T (p.Asp927Tyr)
c.2728G>T (p.Asp910Tyr)
c.3406G>T (p.Asp1136Tyr)
c.3055G>T (p.Asp1019Tyr)
c.3355G>T (p.Asp1119Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989069A=CA1283795449GLI2c.3104A= (p.Asp1035=)
c.3155A= (p.Asp1052=)
c.*2203A= (n.*2203A=)
c.*2254A= (n.*2254A=)
c.3137A= (p.Asp1046=)
c.3014A= (p.Asp1005=)
c.2960A= (p.Asp987=)
c.2780A= (p.Asp927=)
c.2729A= (p.Asp910=)
c.3407A= (p.Asp1136=)
c.3056A= (p.Asp1019=)
c.3356A= (p.Asp1119=)
2g.120989069A>CCA348172444GLI2c.3104A>C (p.Asp1035Ala)
c.3155A>C (p.Asp1052Ala)
c.*2203A>C (n.*2203A>C)
c.*2254A>C (n.*2254A>C)
c.3137A>C (p.Asp1046Ala)
c.3014A>C (p.Asp1005Ala)
c.2960A>C (p.Asp987Ala)
c.2780A>C (p.Asp927Ala)
c.2729A>C (p.Asp910Ala)
c.3407A>C (p.Asp1136Ala)
c.3056A>C (p.Asp1019Ala)
c.3356A>C (p.Asp1119Ala)
2g.120989069A>GCA348172446GLI2c.3104A>G (p.Asp1035Gly)
c.3155A>G (p.Asp1052Gly)
c.*2203A>G (n.*2203A>G)
c.*2254A>G (n.*2254A>G)
c.3137A>G (p.Asp1046Gly)
c.3014A>G (p.Asp1005Gly)
c.2960A>G (p.Asp987Gly)
c.2780A>G (p.Asp927Gly)
c.2729A>G (p.Asp910Gly)
c.3407A>G (p.Asp1136Gly)
c.3056A>G (p.Asp1019Gly)
c.3356A>G (p.Asp1119Gly)
2g.120989069A>TCA1852321GLI2c.3104A>T (p.Asp1035Val)
c.3155A>T (p.Asp1052Val)
c.*2203A>T (n.*2203A>T)
c.*2254A>T (n.*2254A>T)
c.3137A>T (p.Asp1046Val)
c.3014A>T (p.Asp1005Val)
c.2960A>T (p.Asp987Val)
c.2780A>T (p.Asp927Val)
c.2729A>T (p.Asp910Val)
c.3407A>T (p.Asp1136Val)
c.3056A>T (p.Asp1019Val)
c.3356A>T (p.Asp1119Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120989069_120989070insGATCA2517148362GLI2c.3104_3105insGAT (p.Asp1035delinsGluIle)
c.3155_3156insGAT (p.Asp1052delinsGluIle)
c.*2203_*2204insGAT (n.*2203_*2204insGAT)
c.*2254_*2255insGAT (n.*2254_*2255insGAT)
c.3137_3138insGAT (p.Asp1046delinsGluIle)
c.3014_3015insGAT (p.Asp1005delinsGluIle)
c.2960_2961insGAT (p.Asp987delinsGluIle)
c.2780_2781insGAT (p.Asp927delinsGluIle)
c.2729_2730insGAT (p.Asp910delinsGluIle)
c.3407_3408insGAT (p.Asp1136delinsGluIle)
c.3056_3057insGAT (p.Asp1019delinsGluIle)
c.3356_3357insGAT (p.Asp1119delinsGluIle)
2g.120989070C>ACA348172449GLI2c.3105C>A (p.Asp1035Glu)
c.3156C>A (p.Asp1052Glu)
c.*2204C>A (n.*2204C>A)
c.*2255C>A (n.*2255C>A)
c.3138C>A (p.Asp1046Glu)
c.3015C>A (p.Asp1005Glu)
c.2961C>A (p.Asp987Glu)
c.2781C>A (p.Asp927Glu)
c.2730C>A (p.Asp910Glu)
c.3408C>A (p.Asp1136Glu)
c.3057C>A (p.Asp1019Glu)
c.3357C>A (p.Asp1119Glu)
2g.120989070C=CA1283795450GLI2c.3105C= (p.Asp1035=)
c.3156C= (p.Asp1052=)
c.*2204C= (n.*2204C=)
c.*2255C= (n.*2255C=)
c.3138C= (p.Asp1046=)
c.3015C= (p.Asp1005=)
c.2961C= (p.Asp987=)
c.2781C= (p.Asp927=)
c.2730C= (p.Asp910=)
c.3408C= (p.Asp1136=)
c.3057C= (p.Asp1019=)
c.3357C= (p.Asp1119=)
2g.120989070C>GCA1852322GLI2c.3105C>G (p.Asp1035Glu)
c.3156C>G (p.Asp1052Glu)
c.*2204C>G (n.*2204C>G)
c.*2255C>G (n.*2255C>G)
c.3138C>G (p.Asp1046Glu)
c.3015C>G (p.Asp1005Glu)
c.2961C>G (p.Asp987Glu)
c.2781C>G (p.Asp927Glu)
c.2730C>G (p.Asp910Glu)
c.3408C>G (p.Asp1136Glu)
c.3057C>G (p.Asp1019Glu)
c.3357C>G (p.Asp1119Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120989070C>TCA428749686GLI2c.3105C>T (p.Asp1035=)
c.3156C>T (p.Asp1052=)
c.*2204C>T (n.*2204C>T)
c.*2255C>T (n.*2255C>T)
c.3138C>T (p.Asp1046=)
c.3015C>T (p.Asp1005=)
c.2961C>T (p.Asp987=)
c.2781C>T (p.Asp927=)
c.2730C>T (p.Asp910=)
c.3408C>T (p.Asp1136=)
c.3057C>T (p.Asp1019=)
c.3357C>T (p.Asp1119=)
2g.120989070_120989071insAGTCA2531731452GLI2c.3105_3106insAGT (p.Asp1035_Leu1036insSer)
c.3156_3157insAGT (p.Asp1052_Leu1053insSer)
c.*2204_*2205insAGT (n.*2204_*2205insAGT)
c.*2255_*2256insAGT (n.*2255_*2256insAGT)
c.3138_3139insAGT (p.Asp1046_Leu1047insSer)
c.3015_3016insAGT (p.Asp1005_Leu1006insSer)
c.2961_2962insAGT (p.Asp987_Leu988insSer)
c.2781_2782insAGT (p.Asp927_Leu928insSer)
c.2730_2731insAGT (p.Asp910_Leu911insSer)
c.3408_3409insAGT (p.Asp1136_Leu1137insSer)
c.3057_3058insAGT (p.Asp1019_Leu1020insSer)
c.3357_3358insAGT (p.Asp1119_Leu1120insSer)
2g.120989071C>ACA348172453GLI2c.3106C>A (p.Leu1036Met)
c.3157C>A (p.Leu1053Met)
c.*2205C>A (n.*2205C>A)
c.*2256C>A (n.*2256C>A)
c.3139C>A (p.Leu1047Met)
c.3016C>A (p.Leu1006Met)
c.2962C>A (p.Leu988Met)
c.2782C>A (p.Leu928Met)
c.2731C>A (p.Leu911Met)
c.3409C>A (p.Leu1137Met)
c.3058C>A (p.Leu1020Met)
c.3358C>A (p.Leu1120Met)
2g.120989071C>GCA348172455GLI2c.3106C>G (p.Leu1036Val)
c.3157C>G (p.Leu1053Val)
c.*2205C>G (n.*2205C>G)
c.*2256C>G (n.*2256C>G)
c.3139C>G (p.Leu1047Val)
c.3016C>G (p.Leu1006Val)
c.2962C>G (p.Leu988Val)
c.2782C>G (p.Leu928Val)
c.2731C>G (p.Leu911Val)
c.3409C>G (p.Leu1137Val)
c.3058C>G (p.Leu1020Val)
c.3358C>G (p.Leu1120Val)
2g.120989071C>TCA428749689GLI2c.3106C>T (p.Leu1036=)
c.3157C>T (p.Leu1053=)
c.*2205C>T (n.*2205C>T)
c.*2256C>T (n.*2256C>T)
c.3139C>T (p.Leu1047=)
c.3016C>T (p.Leu1006=)
c.2962C>T (p.Leu988=)
c.2782C>T (p.Leu928=)
c.2731C>T (p.Leu911=)
c.3409C>T (p.Leu1137=)
c.3058C>T (p.Leu1020=)
c.3358C>T (p.Leu1120=)
2g.120989072T>ACA348172458GLI2c.3107T>A (p.Leu1036Gln)
c.3158T>A (p.Leu1053Gln)
c.*2206T>A (n.*2206T>A)
c.*2257T>A (n.*2257T>A)
c.3140T>A (p.Leu1047Gln)
c.3017T>A (p.Leu1006Gln)
c.2963T>A (p.Leu988Gln)
c.2783T>A (p.Leu928Gln)
c.2732T>A (p.Leu911Gln)
c.3410T>A (p.Leu1137Gln)
c.3059T>A (p.Leu1020Gln)
c.3359T>A (p.Leu1120Gln)
2g.120989072T>CCA348172462GLI2c.3107T>C (p.Leu1036Pro)
c.3158T>C (p.Leu1053Pro)
c.*2206T>C (n.*2206T>C)
c.*2257T>C (n.*2257T>C)
c.3140T>C (p.Leu1047Pro)
c.3017T>C (p.Leu1006Pro)
c.2963T>C (p.Leu988Pro)
c.2783T>C (p.Leu928Pro)
c.2732T>C (p.Leu911Pro)
c.3410T>C (p.Leu1137Pro)
c.3059T>C (p.Leu1020Pro)
c.3359T>C (p.Leu1120Pro)
2g.120989072T>GCA348172460GLI2c.3107T>G (p.Leu1036Arg)
c.3158T>G (p.Leu1053Arg)
c.*2206T>G (n.*2206T>G)
c.*2257T>G (n.*2257T>G)
c.3140T>G (p.Leu1047Arg)
c.3017T>G (p.Leu1006Arg)
c.2963T>G (p.Leu988Arg)
c.2783T>G (p.Leu928Arg)
c.2732T>G (p.Leu911Arg)
c.3410T>G (p.Leu1137Arg)
c.3059T>G (p.Leu1020Arg)
c.3359T>G (p.Leu1120Arg)
2g.120989073G>ACA428749690GLI2c.3108G>A (p.Leu1036=)
c.3159G>A (p.Leu1053=)
c.*2207G>A (n.*2207G>A)
c.*2258G>A (n.*2258G>A)
c.3141G>A (p.Leu1047=)
c.3018G>A (p.Leu1006=)
c.2964G>A (p.Leu988=)
c.2784G>A (p.Leu928=)
c.2733G>A (p.Leu911=)
c.3411G>A (p.Leu1137=)
c.3060G>A (p.Leu1020=)
c.3360G>A (p.Leu1120=)
2g.120989073G>CCA428749691GLI2c.3108G>C (p.Leu1036=)
c.3159G>C (p.Leu1053=)
c.*2207G>C (n.*2207G>C)
c.*2258G>C (n.*2258G>C)
c.3141G>C (p.Leu1047=)
c.3018G>C (p.Leu1006=)
c.2964G>C (p.Leu988=)
c.2784G>C (p.Leu928=)
c.2733G>C (p.Leu911=)
c.3411G>C (p.Leu1137=)
c.3060G>C (p.Leu1020=)
c.3360G>C (p.Leu1120=)
 gnomAD v4
2g.120989073G>TCA428749692GLI2c.3108G>T (p.Leu1036=)
c.3159G>T (p.Leu1053=)
c.*2207G>T (n.*2207G>T)
c.*2258G>T (n.*2258G>T)
c.3141G>T (p.Leu1047=)
c.3018G>T (p.Leu1006=)
c.2964G>T (p.Leu988=)
c.2784G>T (p.Leu928=)
c.2733G>T (p.Leu911=)
c.3411G>T (p.Leu1137=)
c.3060G>T (p.Leu1020=)
c.3360G>T (p.Leu1120=)
2g.120989076delCA2660922226GLI2c.3111del (p.Leu1038CysfsTer?)
c.3162del (p.Leu1055CysfsTer?)
c.*2210del (n.*2210del)
c.*2261del (n.*2261del)
c.3144del (p.Leu1049CysfsTer?)
c.3021del (p.Leu1008CysfsTer?)
c.2967del (p.Leu990CysfsTer?)
c.2787del (p.Leu930CysfsTer?)
c.2736del (p.Leu913CysfsTer?)
c.3414del (p.Leu1139CysfsTer?)
c.3063del (p.Leu1022CysfsTer?)
c.3363del (p.Leu1122CysfsTer?)
 gnomAD v4
2g.120989074G>ACA348172465GLI2c.3109G>A (p.Gly1037Arg)
c.3160G>A (p.Gly1054Arg)
c.*2208G>A (n.*2208G>A)
c.*2259G>A (n.*2259G>A)
c.3142G>A (p.Gly1048Arg)
c.3019G>A (p.Gly1007Arg)
c.2965G>A (p.Gly989Arg)
c.2785G>A (p.Gly929Arg)
c.2734G>A (p.Gly912Arg)
c.3412G>A (p.Gly1138Arg)
c.3061G>A (p.Gly1021Arg)
c.3361G>A (p.Gly1121Arg)
2g.120989074G>CCA348172468GLI2c.3109G>C (p.Gly1037Arg)
c.3160G>C (p.Gly1054Arg)
c.*2208G>C (n.*2208G>C)
c.*2259G>C (n.*2259G>C)
c.3142G>C (p.Gly1048Arg)
c.3019G>C (p.Gly1007Arg)
c.2965G>C (p.Gly989Arg)
c.2785G>C (p.Gly929Arg)
c.2734G>C (p.Gly912Arg)
c.3412G>C (p.Gly1138Arg)
c.3061G>C (p.Gly1021Arg)
c.3361G>C (p.Gly1121Arg)
2g.120989074G>TCA348172470GLI2c.3109G>T (p.Gly1037Trp)
c.3160G>T (p.Gly1054Trp)
c.*2208G>T (n.*2208G>T)
c.*2259G>T (n.*2259G>T)
c.3142G>T (p.Gly1048Trp)
c.3019G>T (p.Gly1007Trp)
c.2965G>T (p.Gly989Trp)
c.2785G>T (p.Gly929Trp)
c.2734G>T (p.Gly912Trp)
c.3412G>T (p.Gly1138Trp)
c.3061G>T (p.Gly1021Trp)
c.3361G>T (p.Gly1121Trp)
2g.120989075G>ACA348172473GLI2c.3110G>A (p.Gly1037Glu)
c.3161G>A (p.Gly1054Glu)
c.*2209G>A (n.*2209G>A)
c.*2260G>A (n.*2260G>A)
c.3143G>A (p.Gly1048Glu)
c.3020G>A (p.Gly1007Glu)
c.2966G>A (p.Gly989Glu)
c.2786G>A (p.Gly929Glu)
c.2735G>A (p.Gly912Glu)
c.3413G>A (p.Gly1138Glu)
c.3062G>A (p.Gly1021Glu)
c.3362G>A (p.Gly1121Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120989075G>CCA348172475GLI2c.3110G>C (p.Gly1037Ala)
c.3161G>C (p.Gly1054Ala)
c.*2209G>C (n.*2209G>C)
c.*2260G>C (n.*2260G>C)
c.3143G>C (p.Gly1048Ala)
c.3020G>C (p.Gly1007Ala)
c.2966G>C (p.Gly989Ala)
c.2786G>C (p.Gly929Ala)
c.2735G>C (p.Gly912Ala)
c.3413G>C (p.Gly1138Ala)
c.3062G>C (p.Gly1021Ala)
c.3362G>C (p.Gly1121Ala)
 gnomAD v4
2g.120989075G=CA1283795451GLI2c.3110G= (p.Gly1037=)
c.3161G= (p.Gly1054=)
c.*2209G= (n.*2209G=)
c.*2260G= (n.*2260G=)
c.3143G= (p.Gly1048=)
c.3020G= (p.Gly1007=)
c.2966G= (p.Gly989=)
c.2786G= (p.Gly929=)
c.2735G= (p.Gly912=)
c.3413G= (p.Gly1138=)
c.3062G= (p.Gly1021=)
c.3362G= (p.Gly1121=)
2g.120989075G>TCA348172478GLI2c.3110G>T (p.Gly1037Val)
c.3161G>T (p.Gly1054Val)
c.*2209G>T (n.*2209G>T)
c.*2260G>T (n.*2260G>T)
c.3143G>T (p.Gly1048Val)
c.3020G>T (p.Gly1007Val)
c.2966G>T (p.Gly989Val)
c.2786G>T (p.Gly929Val)
c.2735G>T (p.Gly912Val)
c.3413G>T (p.Gly1138Val)
c.3062G>T (p.Gly1021Val)
c.3362G>T (p.Gly1121Val)

Number of alleles fetched