Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.41965839C>A | CA454661759 | GLI3 | c.3234G>T (p.Leu1078=) c.3060G>T (p.Leu1020=) n.3211G>T c.3057G>T (p.Leu1019=) c.3231G>T (p.Leu1077=) | |
7 | g.41965839C>G | CA454661760 | GLI3 | c.3234G>C (p.Leu1078=) c.3060G>C (p.Leu1020=) n.3211G>C c.3057G>C (p.Leu1019=) c.3231G>C (p.Leu1077=) | |
7 | g.41965839C>T | CA454661761 | GLI3 | c.3234G>A (p.Leu1078=) c.3060G>A (p.Leu1020=) n.3211G>A c.3057G>A (p.Leu1019=) c.3231G>A (p.Leu1077=) | |
7 | g.41965840A>C | CA367318883 | GLI3 | c.3233T>G (p.Leu1078Arg) c.3059T>G (p.Leu1020Arg) n.3210T>G c.3056T>G (p.Leu1019Arg) c.3230T>G (p.Leu1077Arg) | |
7 | g.41965840A>G | CA367318884 | GLI3 | c.3233T>C (p.Leu1078Pro) c.3059T>C (p.Leu1020Pro) n.3210T>C c.3056T>C (p.Leu1019Pro) c.3230T>C (p.Leu1077Pro) | |
7 | g.41965840A>T | CA367318885 | GLI3 | c.3233T>A (p.Leu1078Gln) c.3059T>A (p.Leu1020Gln) n.3210T>A c.3056T>A (p.Leu1019Gln) c.3230T>A (p.Leu1077Gln) | |
7 | g.41965841G>A | CA4230417 | GLI3 | c.3232C>T (p.Leu1078=) c.3058C>T (p.Leu1020=) n.3209C>T c.3055C>T (p.Leu1019=) c.3229C>T (p.Leu1077=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41965841G>C | CA367318886 | GLI3 | c.3232C>G (p.Leu1078Val) c.3058C>G (p.Leu1020Val) n.3209C>G c.3055C>G (p.Leu1019Val) c.3229C>G (p.Leu1077Val) | |
7 | g.41965841G= | CA1702660963 | GLI3 | c.3232C= (p.Leu1078=) c.3058C= (p.Leu1020=) n.3209C= c.3055C= (p.Leu1019=) c.3229C= (p.Leu1077=) | |
7 | g.41965841G>T | CA367318887 | GLI3 | c.3232C>A (p.Leu1078Met) c.3058C>A (p.Leu1020Met) n.3209C>A c.3055C>A (p.Leu1019Met) c.3229C>A (p.Leu1077Met) | gnomAD v4 |
7 | g.41965842G>A | CA454661762 | GLI3 | c.3231C>T (p.Ser1077=) c.3057C>T (p.Ser1019=) n.3208C>T c.3054C>T (p.Ser1018=) c.3228C>T (p.Ser1076=) | |
7 | g.41965842G>C | CA454661763 | GLI3 | c.3231C>G (p.Ser1077=) c.3057C>G (p.Ser1019=) n.3208C>G c.3054C>G (p.Ser1018=) c.3228C>G (p.Ser1076=) | |
7 | g.41965842G= | CA1702660964 | GLI3 | c.3231C= (p.Ser1077=) c.3057C= (p.Ser1019=) n.3208C= c.3054C= (p.Ser1018=) c.3228C= (p.Ser1076=) | |
7 | g.41965842G>T | CA454661764 | GLI3 | c.3231C>A (p.Ser1077=) c.3057C>A (p.Ser1019=) n.3208C>A c.3054C>A (p.Ser1018=) c.3228C>A (p.Ser1076=) | gnomAD v4 |
7 | g.41965843G>A | CA367318888 | GLI3 | c.3230C>T (p.Ser1077Phe) c.3056C>T (p.Ser1019Phe) n.3207C>T c.3053C>T (p.Ser1018Phe) c.3227C>T (p.Ser1076Phe) | |
7 | g.41965843G>C | CA367318889 | GLI3 | c.3230C>G (p.Ser1077Cys) c.3056C>G (p.Ser1019Cys) n.3207C>G c.3053C>G (p.Ser1018Cys) c.3227C>G (p.Ser1076Cys) | |
7 | g.41965843G= | CA1702660965 | GLI3 | c.3230C= (p.Ser1077=) c.3056C= (p.Ser1019=) n.3207C= c.3053C= (p.Ser1018=) c.3227C= (p.Ser1076=) | |
7 | g.41965843G>T | CA367318890 | GLI3 | c.3230C>A (p.Ser1077Tyr) c.3056C>A (p.Ser1019Tyr) n.3207C>A c.3053C>A (p.Ser1018Tyr) c.3227C>A (p.Ser1076Tyr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41965843_41965845dup | CA573904735 | GLI3 | c.3228_3230dup (p.Ser1077_Leu1078insSer) c.3054_3056dup (p.Ser1019_Leu1020insSer) n.3205_3207dup c.3051_3053dup (p.Ser1018_Leu1019insSer) c.3225_3227dup (p.Ser1076_Leu1077insSer) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41965844A>C | CA367318893 | GLI3 | c.3229T>G (p.Ser1077Ala) c.3055T>G (p.Ser1019Ala) n.3206T>G c.3052T>G (p.Ser1018Ala) c.3226T>G (p.Ser1076Ala) | |
7 | g.41965844A>G | CA367318891 | GLI3 | c.3229T>C (p.Ser1077Pro) c.3055T>C (p.Ser1019Pro) n.3206T>C c.3052T>C (p.Ser1018Pro) c.3226T>C (p.Ser1076Pro) | |
7 | g.41965844A>T | CA367318892 | GLI3 | c.3229T>A (p.Ser1077Thr) c.3055T>A (p.Ser1019Thr) n.3206T>A c.3052T>A (p.Ser1018Thr) c.3226T>A (p.Ser1076Thr) | |
7 | g.41965845C>A | CA367318894 | GLI3 | c.3228G>T (p.Glu1076Asp) c.3054G>T (p.Glu1018Asp) n.3205G>T c.3051G>T (p.Glu1017Asp) c.3225G>T (p.Glu1075Asp) | |
7 | g.41965845C>G | CA367318895 | GLI3 | c.3228G>C (p.Glu1076Asp) c.3054G>C (p.Glu1018Asp) n.3205G>C c.3051G>C (p.Glu1017Asp) c.3225G>C (p.Glu1075Asp) | |
7 | g.41965845C>T | CA454661765 | GLI3 | c.3228G>A (p.Glu1076=) c.3054G>A (p.Glu1018=) n.3205G>A c.3051G>A (p.Glu1017=) c.3225G>A (p.Glu1075=) | gnomAD v4 |
7 | g.41965846T>A | CA367318896 | GLI3 | c.3227A>T (p.Glu1076Val) c.3053A>T (p.Glu1018Val) n.3204A>T c.3050A>T (p.Glu1017Val) c.3224A>T (p.Glu1075Val) | |
7 | g.41965846T>C | CA367318897 | GLI3 | c.3227A>G (p.Glu1076Gly) c.3053A>G (p.Glu1018Gly) n.3204A>G c.3050A>G (p.Glu1017Gly) c.3224A>G (p.Glu1075Gly) | |
7 | g.41965846T>G | CA367318898 | GLI3 | c.3227A>C (p.Glu1076Ala) c.3053A>C (p.Glu1018Ala) n.3204A>C c.3050A>C (p.Glu1017Ala) c.3224A>C (p.Glu1075Ala) | |
7 | g.41965847C>A | CA367318899 | GLI3 | c.3226G>T (p.Glu1076Ter) c.3052G>T (p.Glu1018Ter) n.3203G>T c.3049G>T (p.Glu1017Ter) c.3223G>T (p.Glu1075Ter) | |
7 | g.41965847C>G | CA367318900 | GLI3 | c.3226G>C (p.Glu1076Gln) c.3052G>C (p.Glu1018Gln) n.3203G>C c.3049G>C (p.Glu1017Gln) c.3223G>C (p.Glu1075Gln) | |
7 | g.41965847C>T | CA367318901 | GLI3 | c.3226G>A (p.Glu1076Lys) c.3052G>A (p.Glu1018Lys) n.3203G>A c.3049G>A (p.Glu1017Lys) c.3223G>A (p.Glu1075Lys) | COSMIC |
7 | g.41965848C>A | CA454661766 | GLI3 | c.3225G>T (p.Leu1075=) c.3051G>T (p.Leu1017=) n.3202G>T c.3048G>T (p.Leu1016=) c.3222G>T (p.Leu1074=) | |
7 | g.41965848C= | CA1702660966 | GLI3 | c.3225G= (p.Leu1075=) c.3051G= (p.Leu1017=) n.3202G= c.3048G= (p.Leu1016=) c.3222G= (p.Leu1074=) | |
7 | g.41965848C>G | CA454661767 | GLI3 | c.3225G>C (p.Leu1075=) c.3051G>C (p.Leu1017=) n.3202G>C c.3048G>C (p.Leu1016=) c.3222G>C (p.Leu1074=) | |
7 | g.41965848C>T | CA4230418 | GLI3 | c.3225G>A (p.Leu1075=) c.3051G>A (p.Leu1017=) n.3202G>A c.3048G>A (p.Leu1016=) c.3222G>A (p.Leu1074=) | dbSNP ExAC |
7 | g.41965849del | CA2582341644 | GLI3 | c.3224del (p.Leu1075ArgfsTer4) c.3050del (p.Leu1017ArgfsTer4) n.3201del c.3047del (p.Leu1016ArgfsTer4) c.3221del (p.Leu1074ArgfsTer4) | ClinVar |
7 | g.41965849A>C | CA367318902 | GLI3 | c.3224T>G (p.Leu1075Arg) c.3050T>G (p.Leu1017Arg) n.3201T>G c.3047T>G (p.Leu1016Arg) c.3221T>G (p.Leu1074Arg) | |
7 | g.41965849A>G | CA367318903 | GLI3 | c.3224T>C (p.Leu1075Pro) c.3050T>C (p.Leu1017Pro) n.3201T>C c.3047T>C (p.Leu1016Pro) c.3221T>C (p.Leu1074Pro) | |
7 | g.41965849A>T | CA367318904 | GLI3 | c.3224T>A (p.Leu1075Gln) c.3050T>A (p.Leu1017Gln) n.3201T>A c.3047T>A (p.Leu1016Gln) c.3221T>A (p.Leu1074Gln) | |
7 | g.41965850G>A | CA454661768 | GLI3 | c.3223C>T (p.Leu1075=) c.3049C>T (p.Leu1017=) n.3200C>T c.3046C>T (p.Leu1016=) c.3220C>T (p.Leu1074=) | |
7 | g.41965850G>C | CA367318906 | GLI3 | c.3223C>G (p.Leu1075Val) c.3049C>G (p.Leu1017Val) n.3200C>G c.3046C>G (p.Leu1016Val) c.3220C>G (p.Leu1074Val) | |
7 | g.41965850G>T | CA367318905 | GLI3 | c.3223C>A (p.Leu1075Met) c.3049C>A (p.Leu1017Met) n.3200C>A c.3046C>A (p.Leu1016Met) c.3220C>A (p.Leu1074Met) | |
7 | g.41965851G>A | CA454661771 | GLI3 | c.3222C>T (p.Thr1074=) c.3048C>T (p.Thr1016=) n.3199C>T c.3045C>T (p.Thr1015=) c.3219C>T (p.Thr1073=) | dbSNP |
7 | g.41965851G>C | CA454661769 | GLI3 | c.3222C>G (p.Thr1074=) c.3048C>G (p.Thr1016=) n.3199C>G c.3045C>G (p.Thr1015=) c.3219C>G (p.Thr1073=) | |
7 | g.41965851G= | CA1702660967 | GLI3 | c.3222C= (p.Thr1074=) c.3048C= (p.Thr1016=) n.3199C= c.3045C= (p.Thr1015=) c.3219C= (p.Thr1073=) | |
7 | g.41965851G>T | CA454661770 | GLI3 | c.3222C>A (p.Thr1074=) c.3048C>A (p.Thr1016=) n.3199C>A c.3045C>A (p.Thr1015=) c.3219C>A (p.Thr1073=) | |
7 | g.41965852G>A | CA367318907 | GLI3 | c.3221C>T (p.Thr1074Ile) c.3047C>T (p.Thr1016Ile) n.3198C>T c.3044C>T (p.Thr1015Ile) c.3218C>T (p.Thr1073Ile) | |
7 | g.41965852G>C | CA367318909 | GLI3 | c.3221C>G (p.Thr1074Ser) c.3047C>G (p.Thr1016Ser) n.3198C>G c.3044C>G (p.Thr1015Ser) c.3218C>G (p.Thr1073Ser) | |
7 | g.41965852G>T | CA367318908 | GLI3 | c.3221C>A (p.Thr1074Asn) c.3047C>A (p.Thr1016Asn) n.3198C>A c.3044C>A (p.Thr1015Asn) c.3218C>A (p.Thr1073Asn) | |
7 | g.41965853T>A | CA367318910 | GLI3 | c.3220A>T (p.Thr1074Ser) c.3046A>T (p.Thr1016Ser) n.3197A>T c.3043A>T (p.Thr1015Ser) c.3217A>T (p.Thr1073Ser) | |
7 | g.41965853T>C | CA367318911 | GLI3 | c.3220A>G (p.Thr1074Ala) c.3046A>G (p.Thr1016Ala) n.3197A>G c.3043A>G (p.Thr1015Ala) c.3217A>G (p.Thr1073Ala) | |
7 | g.41965853T>G | CA367318912 | GLI3 | c.3220A>C (p.Thr1074Pro) c.3046A>C (p.Thr1016Pro) n.3197A>C c.3043A>C (p.Thr1015Pro) c.3217A>C (p.Thr1073Pro) | |
7 | g.41965854G>A | CA454661772 | GLI3 | c.3219C>T (p.Val1073=) c.3045C>T (p.Val1015=) n.3196C>T c.3042C>T (p.Val1014=) c.3216C>T (p.Val1072=) | |
7 | g.41965854G>C | CA454661773 | GLI3 | c.3219C>G (p.Val1073=) c.3045C>G (p.Val1015=) n.3196C>G c.3042C>G (p.Val1014=) c.3216C>G (p.Val1072=) | |
7 | g.41965854G>T | CA454661774 | GLI3 | c.3219C>A (p.Val1073=) c.3045C>A (p.Val1015=) n.3196C>A c.3042C>A (p.Val1014=) c.3216C>A (p.Val1072=) | |
7 | g.41965855A>C | CA367318913 | GLI3 | c.3218T>G (p.Val1073Gly) c.3044T>G (p.Val1015Gly) n.3195T>G c.3041T>G (p.Val1014Gly) c.3215T>G (p.Val1072Gly) | |
7 | g.41965855A>G | CA367318914 | GLI3 | c.3218T>C (p.Val1073Ala) c.3044T>C (p.Val1015Ala) n.3195T>C c.3041T>C (p.Val1014Ala) c.3215T>C (p.Val1072Ala) | |
7 | g.41965855A>T | CA367318915 | GLI3 | c.3218T>A (p.Val1073Asp) c.3044T>A (p.Val1015Asp) n.3195T>A c.3041T>A (p.Val1014Asp) c.3215T>A (p.Val1072Asp) | |
7 | g.41965856C>A | CA367318916 | GLI3 | c.3217G>T (p.Val1073Phe) c.3043G>T (p.Val1015Phe) n.3194G>T c.3040G>T (p.Val1014Phe) c.3214G>T (p.Val1072Phe) | |
7 | g.41965856C>G | CA367318917 | GLI3 | c.3217G>C (p.Val1073Leu) c.3043G>C (p.Val1015Leu) n.3194G>C c.3040G>C (p.Val1014Leu) c.3214G>C (p.Val1072Leu) | |
7 | g.41965856C>T | CA367318918 | GLI3 | c.3217G>A (p.Val1073Ile) c.3043G>A (p.Val1015Ile) n.3194G>A c.3040G>A (p.Val1014Ile) c.3214G>A (p.Val1072Ile) | dbSNP COSMIC |
7 | g.41965857G>A | CA454661775 | GLI3 | c.3216C>T (p.Asn1072=) c.3042C>T (p.Asn1014=) n.3193C>T c.3039C>T (p.Asn1013=) c.3213C>T (p.Asn1071=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.41965857G>C | CA367318919 | GLI3 | c.3216C>G (p.Asn1072Lys) c.3042C>G (p.Asn1014Lys) n.3193C>G c.3039C>G (p.Asn1013Lys) c.3213C>G (p.Asn1071Lys) | |
7 | g.41965857G= | CA1702660968 | GLI3 | c.3216C= (p.Asn1072=) c.3042C= (p.Asn1014=) n.3193C= c.3039C= (p.Asn1013=) c.3213C= (p.Asn1071=) | |
7 | g.41965857G>T | CA367318920 | GLI3 | c.3216C>A (p.Asn1072Lys) c.3042C>A (p.Asn1014Lys) n.3193C>A c.3039C>A (p.Asn1013Lys) c.3213C>A (p.Asn1071Lys) | |
7 | g.41965858T>A | CA367318923 | GLI3 | c.3215A>T (p.Asn1072Ile) c.3041A>T (p.Asn1014Ile) n.3192A>T c.3038A>T (p.Asn1013Ile) c.3212A>T (p.Asn1071Ile) | |
7 | g.41965858T>C | CA367318922 | GLI3 | c.3215A>G (p.Asn1072Ser) c.3041A>G (p.Asn1014Ser) n.3192A>G c.3038A>G (p.Asn1013Ser) c.3212A>G (p.Asn1071Ser) | |
7 | g.41965858T>G | CA367318921 | GLI3 | c.3215A>C (p.Asn1072Thr) c.3041A>C (p.Asn1014Thr) n.3192A>C c.3038A>C (p.Asn1013Thr) c.3212A>C (p.Asn1071Thr) | dbSNP |
7 | g.41965858T= | CA1702660969 | GLI3 | c.3215A= (p.Asn1072=) c.3041A= (p.Asn1014=) n.3192A= c.3038A= (p.Asn1013=) c.3212A= (p.Asn1071=) | |
7 | g.41965859T>A | CA367318924 | GLI3 | c.3214A>T (p.Asn1072Tyr) c.3040A>T (p.Asn1014Tyr) n.3191A>T c.3037A>T (p.Asn1013Tyr) c.3211A>T (p.Asn1071Tyr) | |
7 | g.41965859T>C | CA367318925 | GLI3 | c.3214A>G (p.Asn1072Asp) c.3040A>G (p.Asn1014Asp) n.3191A>G c.3037A>G (p.Asn1013Asp) c.3211A>G (p.Asn1071Asp) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41965859T>G | CA367318926 | GLI3 | c.3214A>C (p.Asn1072His) c.3040A>C (p.Asn1014His) n.3191A>C c.3037A>C (p.Asn1013His) c.3211A>C (p.Asn1071His) | |
7 | g.41965859T= | CA1702660970 | GLI3 | c.3214A= (p.Asn1072=) c.3040A= (p.Asn1014=) n.3191A= c.3037A= (p.Asn1013=) c.3211A= (p.Asn1071=) | |
7 | g.41965860C>A | CA367318927 | GLI3 | c.3213G>T (p.Glu1071Asp) c.3039G>T (p.Glu1013Asp) n.3190G>T c.3036G>T (p.Glu1012Asp) c.3210G>T (p.Glu1070Asp) | dbSNP |
7 | g.41965860C= | CA1702660971 | GLI3 | c.3213G= (p.Glu1071=) c.3039G= (p.Glu1013=) n.3190G= c.3036G= (p.Glu1012=) c.3210G= (p.Glu1070=) | |
7 | g.41965860C>G | CA367318928 | GLI3 | c.3213G>C (p.Glu1071Asp) c.3039G>C (p.Glu1013Asp) n.3190G>C c.3036G>C (p.Glu1012Asp) c.3210G>C (p.Glu1070Asp) | |
7 | g.41965860C>T | CA454661776 | GLI3 | c.3213G>A (p.Glu1071=) c.3039G>A (p.Glu1013=) n.3190G>A c.3036G>A (p.Glu1012=) c.3210G>A (p.Glu1070=) | gnomAD v4 |
7 | g.41965861T>A | CA367318929 | GLI3 | c.3212A>T (p.Glu1071Val) c.3038A>T (p.Glu1013Val) n.3189A>T c.3035A>T (p.Glu1012Val) c.3209A>T (p.Glu1070Val) | |
7 | g.41965861T>C | CA367318930 | GLI3 | c.3212A>G (p.Glu1071Gly) c.3038A>G (p.Glu1013Gly) n.3189A>G c.3035A>G (p.Glu1012Gly) c.3209A>G (p.Glu1070Gly) | |
7 | g.41965861T>G | CA367318931 | GLI3 | c.3212A>C (p.Glu1071Ala) c.3038A>C (p.Glu1013Ala) n.3189A>C c.3035A>C (p.Glu1012Ala) c.3209A>C (p.Glu1070Ala) | |
7 | g.41965862C>A | CA367318932 | GLI3 | c.3211G>T (p.Glu1071Ter) c.3037G>T (p.Glu1013Ter) n.3188G>T c.3034G>T (p.Glu1012Ter) c.3208G>T (p.Glu1070Ter) | |
7 | g.41965862C= | CA1702660972 | GLI3 | c.3211G= (p.Glu1071=) c.3037G= (p.Glu1013=) n.3188G= c.3034G= (p.Glu1012=) c.3208G= (p.Glu1070=) | |
7 | g.41965862C>G | CA367318933 | GLI3 | c.3211G>C (p.Glu1071Gln) c.3037G>C (p.Glu1013Gln) n.3188G>C c.3034G>C (p.Glu1012Gln) c.3208G>C (p.Glu1070Gln) | |
7 | g.41965862C>T | CA367318934 | GLI3 | c.3211G>A (p.Glu1071Lys) c.3037G>A (p.Glu1013Lys) n.3188G>A c.3034G>A (p.Glu1012Lys) c.3208G>A (p.Glu1070Lys) | dbSNP gnomAD v4 |
7 | g.41965863G>A | CA156904454 | GLI3 | c.3210C>T (p.Thr1070=) c.3036C>T (p.Thr1012=) n.3187C>T c.3033C>T (p.Thr1011=) c.3207C>T (p.Thr1069=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41965863G>C | CA454661777 | GLI3 | c.3210C>G (p.Thr1070=) c.3036C>G (p.Thr1012=) n.3187C>G c.3033C>G (p.Thr1011=) c.3207C>G (p.Thr1069=) | |
7 | g.41965863G= | CA1702660973 | GLI3 | c.3210C= (p.Thr1070=) c.3036C= (p.Thr1012=) n.3187C= c.3033C= (p.Thr1011=) c.3207C= (p.Thr1069=) | |
7 | g.41965863G>T | CA156904448 | GLI3 | c.3210C>A (p.Thr1070=) c.3036C>A (p.Thr1012=) n.3187C>A c.3033C>A (p.Thr1011=) c.3207C>A (p.Thr1069=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965864G>A | CA367318937 | GLI3 | c.3209C>T (p.Thr1070Ile) c.3035C>T (p.Thr1012Ile) n.3186C>T c.3032C>T (p.Thr1011Ile) c.3206C>T (p.Thr1069Ile) | gnomAD v4 |
7 | g.41965864G>C | CA367318936 | GLI3 | c.3209C>G (p.Thr1070Ser) c.3035C>G (p.Thr1012Ser) n.3186C>G c.3032C>G (p.Thr1011Ser) c.3206C>G (p.Thr1069Ser) | dbSNP gnomAD v4 |
7 | g.41965864G= | CA1702660974 | GLI3 | c.3209C= (p.Thr1070=) c.3035C= (p.Thr1012=) n.3186C= c.3032C= (p.Thr1011=) c.3206C= (p.Thr1069=) | |
7 | g.41965864G>T | CA367318935 | GLI3 | c.3209C>A (p.Thr1070Asn) c.3035C>A (p.Thr1012Asn) n.3186C>A c.3032C>A (p.Thr1011Asn) c.3206C>A (p.Thr1069Asn) | |
7 | g.41965865T>A | CA4230419 | GLI3 | c.3208A>T (p.Thr1070Ser) c.3034A>T (p.Thr1012Ser) n.3185A>T c.3031A>T (p.Thr1011Ser) c.3205A>T (p.Thr1069Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965865T>C | CA367318939 | GLI3 | c.3208A>G (p.Thr1070Ala) c.3034A>G (p.Thr1012Ala) n.3185A>G c.3031A>G (p.Thr1011Ala) c.3205A>G (p.Thr1069Ala) | |
7 | g.41965865T>G | CA367318938 | GLI3 | c.3208A>C (p.Thr1070Pro) c.3034A>C (p.Thr1012Pro) n.3185A>C c.3031A>C (p.Thr1011Pro) c.3205A>C (p.Thr1069Pro) | |
7 | g.41965865T= | CA1702660975 | GLI3 | c.3208A= (p.Thr1070=) c.3034A= (p.Thr1012=) n.3185A= c.3031A= (p.Thr1011=) c.3205A= (p.Thr1069=) | |
7 | g.41965866G>A | CA454661778 | GLI3 | c.3207C>T (p.Ile1069=) c.3033C>T (p.Ile1011=) n.3184C>T c.3030C>T (p.Ile1010=) c.3204C>T (p.Ile1068=) | |
7 | g.41965866G>C | CA367318940 | GLI3 | c.3207C>G (p.Ile1069Met) c.3033C>G (p.Ile1011Met) n.3184C>G c.3030C>G (p.Ile1010Met) c.3204C>G (p.Ile1068Met) | |
7 | g.41965866G>T | CA454661779 | GLI3 | c.3207C>A (p.Ile1069=) c.3033C>A (p.Ile1011=) n.3184C>A c.3030C>A (p.Ile1010=) c.3204C>A (p.Ile1068=) | COSMIC |
7 | g.41965867A>C | CA367318941 | GLI3 | c.3206T>G (p.Ile1069Ser) c.3032T>G (p.Ile1011Ser) n.3183T>G c.3029T>G (p.Ile1010Ser) c.3203T>G (p.Ile1068Ser) | |
7 | g.41965867A>G | CA367318942 | GLI3 | c.3206T>C (p.Ile1069Thr) c.3032T>C (p.Ile1011Thr) n.3183T>C c.3029T>C (p.Ile1010Thr) c.3203T>C (p.Ile1068Thr) | gnomAD v4 |
7 | g.41965867A>T | CA367318943 | GLI3 | c.3206T>A (p.Ile1069Asn) c.3032T>A (p.Ile1011Asn) n.3183T>A c.3029T>A (p.Ile1010Asn) c.3203T>A (p.Ile1068Asn) | |
7 | g.41965868T>A | CA367318944 | GLI3 | c.3205A>T (p.Ile1069Phe) c.3031A>T (p.Ile1011Phe) n.3182A>T c.3028A>T (p.Ile1010Phe) c.3202A>T (p.Ile1068Phe) | |
7 | g.41965868T>C | CA367318945 | GLI3 | c.3205A>G (p.Ile1069Val) c.3031A>G (p.Ile1011Val) n.3182A>G c.3028A>G (p.Ile1010Val) c.3202A>G (p.Ile1068Val) | gnomAD v4 |
7 | g.41965868T>G | CA367318946 | GLI3 | c.3205A>C (p.Ile1069Leu) c.3031A>C (p.Ile1011Leu) n.3182A>C c.3028A>C (p.Ile1010Leu) c.3202A>C (p.Ile1068Leu) | |
7 | g.41965869G>A | CA454661780 | GLI3 | c.3204C>T (p.Ser1068=) c.3030C>T (p.Ser1010=) n.3181C>T c.3027C>T (p.Ser1009=) c.3201C>T (p.Ser1067=) | dbSNP gnomAD v4 |
7 | g.41965869G>C | CA367318947 | GLI3 | c.3204C>G (p.Ser1068Arg) c.3030C>G (p.Ser1010Arg) n.3181C>G c.3027C>G (p.Ser1009Arg) c.3201C>G (p.Ser1067Arg) | |
7 | g.41965869G= | CA1702660976 | GLI3 | c.3204C= (p.Ser1068=) c.3030C= (p.Ser1010=) n.3181C= c.3027C= (p.Ser1009=) c.3201C= (p.Ser1067=) | |
7 | g.41965869G>T | CA367318948 | GLI3 | c.3204C>A (p.Ser1068Arg) c.3030C>A (p.Ser1010Arg) n.3181C>A c.3027C>A (p.Ser1009Arg) c.3201C>A (p.Ser1067Arg) | |
7 | g.41965870C>A | CA367318949 | GLI3 | c.3203G>T (p.Ser1068Ile) c.3029G>T (p.Ser1010Ile) n.3180G>T c.3026G>T (p.Ser1009Ile) c.3200G>T (p.Ser1067Ile) | |
7 | g.41965870C= | CA1702660977 | GLI3 | c.3203G= (p.Ser1068=) c.3029G= (p.Ser1010=) n.3180G= c.3026G= (p.Ser1009=) c.3200G= (p.Ser1067=) | |
7 | g.41965870C>G | CA4230420 | GLI3 | c.3203G>C (p.Ser1068Thr) c.3029G>C (p.Ser1010Thr) n.3180G>C c.3026G>C (p.Ser1009Thr) c.3200G>C (p.Ser1067Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965870C>T | CA367318950 | GLI3 | c.3203G>A (p.Ser1068Asn) c.3029G>A (p.Ser1010Asn) n.3180G>A c.3026G>A (p.Ser1009Asn) c.3200G>A (p.Ser1067Asn) | |
7 | g.41965871T>A | CA367318953 | GLI3 | c.3202A>T (p.Ser1068Cys) c.3028A>T (p.Ser1010Cys) n.3179A>T c.3025A>T (p.Ser1009Cys) c.3199A>T (p.Ser1067Cys) | |
7 | g.41965871T>C | CA367318951 | GLI3 | c.3202A>G (p.Ser1068Gly) c.3028A>G (p.Ser1010Gly) n.3179A>G c.3025A>G (p.Ser1009Gly) c.3199A>G (p.Ser1067Gly) | |
7 | g.41965871T>G | CA367318952 | GLI3 | c.3202A>C (p.Ser1068Arg) c.3028A>C (p.Ser1010Arg) n.3179A>C c.3025A>C (p.Ser1009Arg) c.3199A>C (p.Ser1067Arg) | |
7 | g.41965872G>A | CA454661781 | GLI3 | c.3201C>T (p.Pro1067=) c.3027C>T (p.Pro1009=) n.3178C>T c.3024C>T (p.Pro1008=) c.3198C>T (p.Pro1066=) | |
7 | g.41965872G>C | CA454661782 | GLI3 | c.3201C>G (p.Pro1067=) c.3027C>G (p.Pro1009=) n.3178C>G c.3024C>G (p.Pro1008=) c.3198C>G (p.Pro1066=) | |
7 | g.41965872G>T | CA454661783 | GLI3 | c.3201C>A (p.Pro1067=) c.3027C>A (p.Pro1009=) n.3178C>A c.3024C>A (p.Pro1008=) c.3198C>A (p.Pro1066=) | |
7 | g.41965873G>A | CA367318954 | GLI3 | c.3200C>T (p.Pro1067Leu) c.3026C>T (p.Pro1009Leu) n.3177C>T c.3023C>T (p.Pro1008Leu) c.3197C>T (p.Pro1066Leu) | |
7 | g.41965873G>C | CA367318955 | GLI3 | c.3200C>G (p.Pro1067Arg) c.3026C>G (p.Pro1009Arg) n.3177C>G c.3023C>G (p.Pro1008Arg) c.3197C>G (p.Pro1066Arg) | |
7 | g.41965873G>T | CA367318956 | GLI3 | c.3200C>A (p.Pro1067His) c.3026C>A (p.Pro1009His) n.3177C>A c.3023C>A (p.Pro1008His) c.3197C>A (p.Pro1066His) | |
7 | g.41965874G>A | CA367318957 | GLI3 | c.3199C>T (p.Pro1067Ser) c.3025C>T (p.Pro1009Ser) n.3176C>T c.3022C>T (p.Pro1008Ser) c.3196C>T (p.Pro1066Ser) | |
7 | g.41965874G>C | CA367318958 | GLI3 | c.3199C>G (p.Pro1067Ala) c.3025C>G (p.Pro1009Ala) n.3176C>G c.3022C>G (p.Pro1008Ala) c.3196C>G (p.Pro1066Ala) | |
7 | g.41965874G>T | CA367318959 | GLI3 | c.3199C>A (p.Pro1067Thr) c.3025C>A (p.Pro1009Thr) n.3176C>A c.3022C>A (p.Pro1008Thr) c.3196C>A (p.Pro1066Thr) | |
7 | g.41965875A>C | CA454661784 | GLI3 | c.3198T>G (p.Pro1066=) c.3024T>G (p.Pro1008=) n.3175T>G c.3021T>G (p.Pro1007=) c.3195T>G (p.Pro1065=) | |
7 | g.41965875A>G | CA454661785 | GLI3 | c.3198T>C (p.Pro1066=) c.3024T>C (p.Pro1008=) n.3175T>C c.3021T>C (p.Pro1007=) c.3195T>C (p.Pro1065=) | |
7 | g.41965875A>T | CA454661786 | GLI3 | c.3198T>A (p.Pro1066=) c.3024T>A (p.Pro1008=) n.3175T>A c.3021T>A (p.Pro1007=) c.3195T>A (p.Pro1065=) | |
7 | g.41965876G>A | CA367318960 | GLI3 | c.3197C>T (p.Pro1066Leu) c.3023C>T (p.Pro1008Leu) n.3174C>T c.3020C>T (p.Pro1007Leu) c.3194C>T (p.Pro1065Leu) | |
7 | g.41965876G>C | CA367318961 | GLI3 | c.3197C>G (p.Pro1066Arg) c.3023C>G (p.Pro1008Arg) n.3174C>G c.3020C>G (p.Pro1007Arg) c.3194C>G (p.Pro1065Arg) | |
7 | g.41965876G>T | CA367318962 | GLI3 | c.3197C>A (p.Pro1066His) c.3023C>A (p.Pro1008His) n.3174C>A c.3020C>A (p.Pro1007His) c.3194C>A (p.Pro1065His) | |
7 | g.41965877G>A | CA367318963 | GLI3 | c.3196C>T (p.Pro1066Ser) c.3022C>T (p.Pro1008Ser) n.3173C>T c.3019C>T (p.Pro1007Ser) c.3193C>T (p.Pro1065Ser) | |
7 | g.41965877G>C | CA367318964 | GLI3 | c.3196C>G (p.Pro1066Ala) c.3022C>G (p.Pro1008Ala) n.3173C>G c.3019C>G (p.Pro1007Ala) c.3193C>G (p.Pro1065Ala) | |
7 | g.41965877G>T | CA367318965 | GLI3 | c.3196C>A (p.Pro1066Thr) c.3022C>A (p.Pro1008Thr) n.3173C>A c.3019C>A (p.Pro1007Thr) c.3193C>A (p.Pro1065Thr) | |
7 | g.41965878A>C | CA367318966 | GLI3 | c.3195T>G (p.Cys1065Trp) c.3021T>G (p.Cys1007Trp) n.3172T>G c.3018T>G (p.Cys1006Trp) c.3192T>G (p.Cys1064Trp) | |
7 | g.41965878A>G | CA454661787 | GLI3 | c.3195T>C (p.Cys1065=) c.3021T>C (p.Cys1007=) n.3172T>C c.3018T>C (p.Cys1006=) c.3192T>C (p.Cys1064=) | |
7 | g.41965878A>T | CA367318967 | GLI3 | c.3195T>A (p.Cys1065Ter) c.3021T>A (p.Cys1007Ter) n.3172T>A c.3018T>A (p.Cys1006Ter) c.3192T>A (p.Cys1064Ter) | |
7 | g.41965879C>A | CA367318968 | GLI3 | c.3194G>T (p.Cys1065Phe) c.3020G>T (p.Cys1007Phe) n.3171G>T c.3017G>T (p.Cys1006Phe) c.3191G>T (p.Cys1064Phe) | |
7 | g.41965879C= | CA1702660978 | GLI3 | c.3194G= (p.Cys1065=) c.3020G= (p.Cys1007=) n.3171G= c.3017G= (p.Cys1006=) c.3191G= (p.Cys1064=) | |
7 | g.41965879C>G | CA367318969 | GLI3 | c.3194G>C (p.Cys1065Ser) c.3020G>C (p.Cys1007Ser) n.3171G>C c.3017G>C (p.Cys1006Ser) c.3191G>C (p.Cys1064Ser) | |
7 | g.41965879C>T | CA4230421 | GLI3 | c.3194G>A (p.Cys1065Tyr) c.3020G>A (p.Cys1007Tyr) n.3171G>A c.3017G>A (p.Cys1006Tyr) c.3191G>A (p.Cys1064Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965880A>C | CA367318970 | GLI3 | c.3193T>G (p.Cys1065Gly) c.3019T>G (p.Cys1007Gly) n.3170T>G c.3016T>G (p.Cys1006Gly) c.3190T>G (p.Cys1064Gly) | |
7 | g.41965880A>G | CA367318971 | GLI3 | c.3193T>C (p.Cys1065Arg) c.3019T>C (p.Cys1007Arg) n.3170T>C c.3016T>C (p.Cys1006Arg) c.3190T>C (p.Cys1064Arg) | |
7 | g.41965880A>T | CA367318972 | GLI3 | c.3193T>A (p.Cys1065Ser) c.3019T>A (p.Cys1007Ser) n.3170T>A c.3016T>A (p.Cys1006Ser) c.3190T>A (p.Cys1064Ser) | |
7 | g.41965881G>A | CA4230422 | GLI3 | c.3192C>T (p.Pro1064=) c.3018C>T (p.Pro1006=) n.3169C>T c.3015C>T (p.Pro1005=) c.3189C>T (p.Pro1063=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41965881G>C | CA454661788 | GLI3 | c.3192C>G (p.Pro1064=) c.3018C>G (p.Pro1006=) n.3169C>G c.3015C>G (p.Pro1005=) c.3189C>G (p.Pro1063=) | |
7 | g.41965881G= | CA1702660979 | GLI3 | c.3192C= (p.Pro1064=) c.3018C= (p.Pro1006=) n.3169C= c.3015C= (p.Pro1005=) c.3189C= (p.Pro1063=) | |
7 | g.41965881G>T | CA454661789 | GLI3 | c.3192C>A (p.Pro1064=) c.3018C>A (p.Pro1006=) n.3169C>A c.3015C>A (p.Pro1005=) c.3189C>A (p.Pro1063=) | |
7 | g.41965885del | CA454661790 | GLI3 | c.3192del (p.Cys1065ValfsTer14) c.3018del (p.Cys1007ValfsTer14) n.3169del c.3015del (p.Cys1006ValfsTer14) c.3189del (p.Cys1064ValfsTer14) | COSMIC |
7 | g.41965882G>A | CA367318973 | GLI3 | c.3191C>T (p.Pro1064Leu) c.3017C>T (p.Pro1006Leu) n.3168C>T c.3014C>T (p.Pro1005Leu) c.3188C>T (p.Pro1063Leu) | gnomAD v4 |
7 | g.41965882G>C | CA367318974 | GLI3 | c.3191C>G (p.Pro1064Arg) c.3017C>G (p.Pro1006Arg) n.3168C>G c.3014C>G (p.Pro1005Arg) c.3188C>G (p.Pro1063Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41965882G= | CA1702660980 | GLI3 | c.3191C= (p.Pro1064=) c.3017C= (p.Pro1006=) n.3168C= c.3014C= (p.Pro1005=) c.3188C= (p.Pro1063=) | |
7 | g.41965882G>T | CA367318975 | GLI3 | c.3191C>A (p.Pro1064His) c.3017C>A (p.Pro1006His) n.3168C>A c.3014C>A (p.Pro1005His) c.3188C>A (p.Pro1063His) | |
7 | g.41965883G>A | CA4230423 | GLI3 | c.3190C>T (p.Pro1064Ser) c.3016C>T (p.Pro1006Ser) n.3167C>T c.3013C>T (p.Pro1005Ser) c.3187C>T (p.Pro1063Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965883G>C | CA367318976 | GLI3 | c.3190C>G (p.Pro1064Ala) c.3016C>G (p.Pro1006Ala) n.3167C>G c.3013C>G (p.Pro1005Ala) c.3187C>G (p.Pro1063Ala) | gnomAD v4 |
7 | g.41965883G= | CA1702660981 | GLI3 | c.3190C= (p.Pro1064=) c.3016C= (p.Pro1006=) n.3167C= c.3013C= (p.Pro1005=) c.3187C= (p.Pro1063=) | |
7 | g.41965883G>T | CA367318977 | GLI3 | c.3190C>A (p.Pro1064Thr) c.3016C>A (p.Pro1006Thr) n.3167C>A c.3013C>A (p.Pro1005Thr) c.3187C>A (p.Pro1063Thr) | |
7 | g.41965884G>A | CA454661791 | GLI3 | c.3189C>T (p.Ser1063=) c.3015C>T (p.Ser1005=) n.3166C>T c.3012C>T (p.Ser1004=) c.3186C>T (p.Ser1062=) | |
7 | g.41965884G>C | CA454661793 | GLI3 | c.3189C>G (p.Ser1063=) c.3015C>G (p.Ser1005=) n.3166C>G c.3012C>G (p.Ser1004=) c.3186C>G (p.Ser1062=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41965884G= | CA1702660982 | GLI3 | c.3189C= (p.Ser1063=) c.3015C= (p.Ser1005=) n.3166C= c.3012C= (p.Ser1004=) c.3186C= (p.Ser1062=) | |
7 | g.41965884G>T | CA454661792 | GLI3 | c.3189C>A (p.Ser1063=) c.3015C>A (p.Ser1005=) n.3166C>A c.3012C>A (p.Ser1004=) c.3186C>A (p.Ser1062=) | |
7 | g.41965885G>A | CA367318980 | GLI3 | c.3188C>T (p.Ser1063Phe) c.3014C>T (p.Ser1005Phe) n.3165C>T c.3011C>T (p.Ser1004Phe) c.3185C>T (p.Ser1062Phe) | dbSNP gnomAD v4 |
7 | g.41965885G>C | CA367318978 | GLI3 | c.3188C>G (p.Ser1063Cys) c.3014C>G (p.Ser1005Cys) n.3165C>G c.3011C>G (p.Ser1004Cys) c.3185C>G (p.Ser1062Cys) | |
7 | g.41965885G= | CA1702660983 | GLI3 | c.3188C= (p.Ser1063=) c.3014C= (p.Ser1005=) n.3165C= c.3011C= (p.Ser1004=) c.3185C= (p.Ser1062=) | |
7 | g.41965885G>T | CA367318979 | GLI3 | c.3188C>A (p.Ser1063Tyr) c.3014C>A (p.Ser1005Tyr) n.3165C>A c.3011C>A (p.Ser1004Tyr) c.3185C>A (p.Ser1062Tyr) | |
7 | g.41965886A>C | CA367318981 | GLI3 | c.3187T>G (p.Ser1063Ala) c.3013T>G (p.Ser1005Ala) n.3164T>G c.3010T>G (p.Ser1004Ala) c.3184T>G (p.Ser1062Ala) | gnomAD v4 |
7 | g.41965886A>G | CA367318982 | GLI3 | c.3187T>C (p.Ser1063Pro) c.3013T>C (p.Ser1005Pro) n.3164T>C c.3010T>C (p.Ser1004Pro) c.3184T>C (p.Ser1062Pro) | |
7 | g.41965886A>T | CA367318983 | GLI3 | c.3187T>A (p.Ser1063Thr) c.3013T>A (p.Ser1005Thr) n.3164T>A c.3010T>A (p.Ser1004Thr) c.3184T>A (p.Ser1062Thr) | |
7 | g.41965887C>A | CA156904490 | GLI3 | c.3186G>T (p.Ser1062=) c.3012G>T (p.Ser1004=) n.3163G>T c.3009G>T (p.Ser1003=) c.3183G>T (p.Ser1061=) | dbSNP gnomAD v4 |
7 | g.41965887C= | CA1702660984 | GLI3 | c.3186G= (p.Ser1062=) c.3012G= (p.Ser1004=) n.3163G= c.3009G= (p.Ser1003=) c.3183G= (p.Ser1061=) | |
7 | g.41965887C>G | CA454661794 | GLI3 | c.3186G>C (p.Ser1062=) c.3012G>C (p.Ser1004=) n.3163G>C c.3009G>C (p.Ser1003=) c.3183G>C (p.Ser1061=) | |
7 | g.41965887C>T | CA4230424 | GLI3 | c.3186G>A (p.Ser1062=) c.3012G>A (p.Ser1004=) n.3163G>A c.3009G>A (p.Ser1003=) c.3183G>A (p.Ser1061=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.41965888G>A | CA156904501 | GLI3 | c.3185C>T (p.Ser1062Leu) c.3011C>T (p.Ser1004Leu) n.3162C>T c.3008C>T (p.Ser1003Leu) c.3182C>T (p.Ser1061Leu) | dbSNP gnomAD v4 COSMIC |
7 | g.41965888G>C | CA367318984 | GLI3 | c.3185C>G (p.Ser1062Trp) c.3011C>G (p.Ser1004Trp) n.3162C>G c.3008C>G (p.Ser1003Trp) c.3182C>G (p.Ser1061Trp) | dbSNP |
7 | g.41965888G= | CA1702660985 | GLI3 | c.3185C= (p.Ser1062=) c.3011C= (p.Ser1004=) n.3162C= c.3008C= (p.Ser1003=) c.3182C= (p.Ser1061=) | |
7 | g.41965888G>T | CA367318985 | GLI3 | c.3185C>A (p.Ser1062Ter) c.3011C>A (p.Ser1004Ter) n.3162C>A c.3008C>A (p.Ser1003Ter) c.3182C>A (p.Ser1061Ter) | |
7 | g.41965889A>C | CA367318986 | GLI3 | c.3184T>G (p.Ser1062Ala) c.3010T>G (p.Ser1004Ala) n.3161T>G c.3007T>G (p.Ser1003Ala) c.3181T>G (p.Ser1061Ala) | |
7 | g.41965889A>G | CA367318987 | GLI3 | c.3184T>C (p.Ser1062Pro) c.3010T>C (p.Ser1004Pro) n.3161T>C c.3007T>C (p.Ser1003Pro) c.3181T>C (p.Ser1061Pro) | |
7 | g.41965889A>T | CA367318988 | GLI3 | c.3184T>A (p.Ser1062Thr) c.3010T>A (p.Ser1004Thr) n.3161T>A c.3007T>A (p.Ser1003Thr) c.3181T>A (p.Ser1061Thr) | |
7 | g.41965890G>A | CA454661795 | GLI3 | c.3183C>T (p.His1061=) c.3009C>T (p.His1003=) n.3160C>T c.3006C>T (p.His1002=) c.3180C>T (p.His1060=) | COSMIC |
7 | g.41965890G>C | CA4230425 | GLI3 | c.3183C>G (p.His1061Gln) c.3009C>G (p.His1003Gln) n.3160C>G c.3006C>G (p.His1002Gln) c.3180C>G (p.His1060Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965890G= | CA1702660986 | GLI3 | c.3183C= (p.His1061=) c.3009C= (p.His1003=) n.3160C= c.3006C= (p.His1002=) c.3180C= (p.His1060=) | |
7 | g.41965890G>T | CA367318989 | GLI3 | c.3183C>A (p.His1061Gln) c.3009C>A (p.His1003Gln) n.3160C>A c.3006C>A (p.His1002Gln) c.3180C>A (p.His1060Gln) | |
7 | g.41965891T>A | CA367318992 | GLI3 | c.3182A>T (p.His1061Leu) c.3008A>T (p.His1003Leu) n.3159A>T c.3005A>T (p.His1002Leu) c.3179A>T (p.His1060Leu) | |
7 | g.41965891T>C | CA367318991 | GLI3 | c.3182A>G (p.His1061Arg) c.3008A>G (p.His1003Arg) n.3159A>G c.3005A>G (p.His1002Arg) c.3179A>G (p.His1060Arg) | |
7 | g.41965891T>G | CA367318990 | GLI3 | c.3182A>C (p.His1061Pro) c.3008A>C (p.His1003Pro) n.3159A>C c.3005A>C (p.His1002Pro) c.3179A>C (p.His1060Pro) | |
7 | g.41965892G>A | CA367318993 | GLI3 | c.3181C>T (p.His1061Tyr) c.3007C>T (p.His1003Tyr) n.3158C>T c.3004C>T (p.His1002Tyr) c.3178C>T (p.His1060Tyr) | COSMIC |
7 | g.41965892G>C | CA367318995 | GLI3 | c.3181C>G (p.His1061Asp) c.3007C>G (p.His1003Asp) n.3158C>G c.3004C>G (p.His1002Asp) c.3178C>G (p.His1060Asp) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41965892G= | CA1702660987 | GLI3 | c.3181C= (p.His1061=) c.3007C= (p.His1003=) n.3158C= c.3004C= (p.His1002=) c.3178C= (p.His1060=) | |
7 | g.41965892G>T | CA367318994 | GLI3 | c.3181C>A (p.His1061Asn) c.3007C>A (p.His1003Asn) n.3158C>A c.3004C>A (p.His1002Asn) c.3178C>A (p.His1060Asn) | |
7 | g.41965893G>A | CA454661796 | GLI3 | c.3180C>T (p.Phe1060=) c.3006C>T (p.Phe1002=) n.3157C>T c.3003C>T (p.Phe1001=) c.3177C>T (p.Phe1059=) | gnomAD v4 |
7 | g.41965893G>C | CA367318996 | GLI3 | c.3180C>G (p.Phe1060Leu) c.3006C>G (p.Phe1002Leu) n.3157C>G c.3003C>G (p.Phe1001Leu) c.3177C>G (p.Phe1059Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41965893G= | CA1702660988 | GLI3 | c.3180C= (p.Phe1060=) c.3006C= (p.Phe1002=) n.3157C= c.3003C= (p.Phe1001=) c.3177C= (p.Phe1059=) | |
7 | g.41965893G>T | CA367318997 | GLI3 | c.3180C>A (p.Phe1060Leu) c.3006C>A (p.Phe1002Leu) n.3157C>A c.3003C>A (p.Phe1001Leu) c.3177C>A (p.Phe1059Leu) | |
7 | g.41965894A= | CA1702660989 | GLI3 | c.3179T= (p.Phe1060=) c.3005T= (p.Phe1002=) n.3156T= c.3002T= (p.Phe1001=) c.3176T= (p.Phe1059=) | |
7 | g.41965894A>C | CA367318998 | GLI3 | c.3179T>G (p.Phe1060Cys) c.3005T>G (p.Phe1002Cys) n.3156T>G c.3002T>G (p.Phe1001Cys) c.3176T>G (p.Phe1059Cys) | |
7 | g.41965894A>G | CA367318999 | GLI3 | c.3179T>C (p.Phe1060Ser) c.3005T>C (p.Phe1002Ser) n.3156T>C c.3002T>C (p.Phe1001Ser) c.3176T>C (p.Phe1059Ser) | gnomAD v4 |
7 | g.41965894A>T | CA4230426 | GLI3 | c.3179T>A (p.Phe1060Tyr) c.3005T>A (p.Phe1002Tyr) n.3156T>A c.3002T>A (p.Phe1001Tyr) c.3176T>A (p.Phe1059Tyr) | dbSNP ExAC gnomAD v2 |
7 | g.41965895A>C | CA367319000 | GLI3 | c.3178T>G (p.Phe1060Val) c.3004T>G (p.Phe1002Val) n.3155T>G c.3001T>G (p.Phe1001Val) c.3175T>G (p.Phe1059Val) | |
7 | g.41965895A>G | CA367319001 | GLI3 | c.3178T>C (p.Phe1060Leu) c.3004T>C (p.Phe1002Leu) n.3155T>C c.3001T>C (p.Phe1001Leu) c.3175T>C (p.Phe1059Leu) | |
7 | g.41965895A>T | CA367319002 | GLI3 | c.3178T>A (p.Phe1060Ile) c.3004T>A (p.Phe1002Ile) n.3155T>A c.3001T>A (p.Phe1001Ile) c.3175T>A (p.Phe1059Ile) | |
7 | g.41965896G>A | CA454661797 | GLI3 | c.3177C>T (p.Asn1059=) c.3003C>T (p.Asn1001=) n.3154C>T c.3000C>T (p.Asn1000=) c.3174C>T (p.Asn1058=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965896G>C | CA367319003 | GLI3 | c.3177C>G (p.Asn1059Lys) c.3003C>G (p.Asn1001Lys) n.3154C>G c.3000C>G (p.Asn1000Lys) c.3174C>G (p.Asn1058Lys) | gnomAD v4 |
7 | g.41965896G= | CA1702660990 | GLI3 | c.3177C= (p.Asn1059=) c.3003C= (p.Asn1001=) n.3154C= c.3000C= (p.Asn1000=) c.3174C= (p.Asn1058=) | |
7 | g.41965896G>T | CA367319004 | GLI3 | c.3177C>A (p.Asn1059Lys) c.3003C>A (p.Asn1001Lys) n.3154C>A c.3000C>A (p.Asn1000Lys) c.3174C>A (p.Asn1058Lys) | |
7 | g.41965897T>A | CA367319005 | GLI3 | c.3176A>T (p.Asn1059Ile) c.3002A>T (p.Asn1001Ile) n.3153A>T c.2999A>T (p.Asn1000Ile) c.3173A>T (p.Asn1058Ile) | |
7 | g.41965897T>C | CA367319006 | GLI3 | c.3176A>G (p.Asn1059Ser) c.3002A>G (p.Asn1001Ser) n.3153A>G c.2999A>G (p.Asn1000Ser) c.3173A>G (p.Asn1058Ser) | |
7 | g.41965897T>G | CA367319007 | GLI3 | c.3176A>C (p.Asn1059Thr) c.3002A>C (p.Asn1001Thr) n.3153A>C c.2999A>C (p.Asn1000Thr) c.3173A>C (p.Asn1058Thr) | gnomAD v4 |
7 | g.41965898T>A | CA367319010 | GLI3 | c.3175A>T (p.Asn1059Tyr) c.3001A>T (p.Asn1001Tyr) n.3152A>T c.2998A>T (p.Asn1000Tyr) c.3172A>T (p.Asn1058Tyr) | |
7 | g.41965898T>C | CA367319009 | GLI3 | c.3175A>G (p.Asn1059Asp) c.3001A>G (p.Asn1001Asp) n.3152A>G c.2998A>G (p.Asn1000Asp) c.3172A>G (p.Asn1058Asp) | |
7 | g.41965898T>G | CA367319008 | GLI3 | c.3175A>C (p.Asn1059His) c.3001A>C (p.Asn1001His) n.3152A>C c.2998A>C (p.Asn1000His) c.3172A>C (p.Asn1058His) | |
7 | g.41965899T>A | CA454661798 | GLI3 | c.3174A>T (p.Arg1058=) c.3000A>T (p.Arg1000=) n.3151A>T c.2997A>T (p.Arg999=) c.3171A>T (p.Arg1057=) | |
7 | g.41965899T>C | CA454661800 | GLI3 | c.3174A>G (p.Arg1058=) c.3000A>G (p.Arg1000=) n.3151A>G c.2997A>G (p.Arg999=) c.3171A>G (p.Arg1057=) | |
7 | g.41965899T>G | CA454661799 | GLI3 | c.3174A>C (p.Arg1058=) c.3000A>C (p.Arg1000=) n.3151A>C c.2997A>C (p.Arg999=) c.3171A>C (p.Arg1057=) | |
7 | g.41965900C>A | CA367319011 | GLI3 | c.3173G>T (p.Arg1058Leu) c.2999G>T (p.Arg1000Leu) n.3150G>T c.2996G>T (p.Arg999Leu) c.3170G>T (p.Arg1057Leu) | COSMIC |
7 | g.41965900C= | CA1702660991 | GLI3 | c.3173G= (p.Arg1058=) c.2999G= (p.Arg1000=) n.3150G= c.2996G= (p.Arg999=) c.3170G= (p.Arg1057=) | |
7 | g.41965900C>G | CA367319012 | GLI3 | c.3173G>C (p.Arg1058Pro) c.2999G>C (p.Arg1000Pro) n.3150G>C c.2996G>C (p.Arg999Pro) c.3170G>C (p.Arg1057Pro) | gnomAD v4 |
7 | g.41965900C>T | CA4230427 | GLI3 | c.3173G>A (p.Arg1058Gln) c.2999G>A (p.Arg1000Gln) n.3150G>A c.2996G>A (p.Arg999Gln) c.3170G>A (p.Arg1057Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.41965901G>A | CA367319013 | GLI3 | c.3172C>T (p.Arg1058Ter) c.2998C>T (p.Arg1000Ter) n.3149C>T c.2995C>T (p.Arg999Ter) c.3169C>T (p.Arg1057Ter) | |
7 | g.41965901G>C | CA367319014 | GLI3 | c.3172C>G (p.Arg1058Gly) c.2998C>G (p.Arg1000Gly) n.3149C>G c.2995C>G (p.Arg999Gly) c.3169C>G (p.Arg1057Gly) | gnomAD v4 |
7 | g.41965901G>T | CA454661801 | GLI3 | c.3172C>A (p.Arg1058=) c.2998C>A (p.Arg1000=) n.3149C>A c.2995C>A (p.Arg999=) c.3169C>A (p.Arg1057=) | COSMIC |
7 | g.41965902G>A | CA454661802 | GLI3 | c.3171C>T (p.Ser1057=) c.2997C>T (p.Ser999=) n.3148C>T c.2994C>T (p.Ser998=) c.3168C>T (p.Ser1056=) | |
7 | g.41965902G>C | CA454661803 | GLI3 | c.3171C>G (p.Ser1057=) c.2997C>G (p.Ser999=) n.3148C>G c.2994C>G (p.Ser998=) c.3168C>G (p.Ser1056=) | |
7 | g.41965902G>T | CA454661804 | GLI3 | c.3171C>A (p.Ser1057=) c.2997C>A (p.Ser999=) n.3148C>A c.2994C>A (p.Ser998=) c.3168C>A (p.Ser1056=) | |
7 | g.41965903G>A | CA367319015 | GLI3 | c.3170C>T (p.Ser1057Phe) c.2996C>T (p.Ser999Phe) n.3147C>T c.2993C>T (p.Ser998Phe) c.3167C>T (p.Ser1056Phe) | gnomAD v4 COSMIC |
7 | g.41965903G>C | CA367319016 | GLI3 | c.3170C>G (p.Ser1057Cys) c.2996C>G (p.Ser999Cys) n.3147C>G c.2993C>G (p.Ser998Cys) c.3167C>G (p.Ser1056Cys) | COSMIC |
7 | g.41965903G>T | CA367319017 | GLI3 | c.3170C>A (p.Ser1057Tyr) c.2996C>A (p.Ser999Tyr) n.3147C>A c.2993C>A (p.Ser998Tyr) c.3167C>A (p.Ser1056Tyr) | |
7 | g.41965904A>C | CA367319018 | GLI3 | c.3169T>G (p.Ser1057Ala) c.2995T>G (p.Ser999Ala) n.3146T>G c.2992T>G (p.Ser998Ala) c.3166T>G (p.Ser1056Ala) | |
7 | g.41965904A>G | CA367319019 | GLI3 | c.3169T>C (p.Ser1057Pro) c.2995T>C (p.Ser999Pro) n.3146T>C c.2992T>C (p.Ser998Pro) c.3166T>C (p.Ser1056Pro) | gnomAD v4 |
7 | g.41965904A>T | CA367319020 | GLI3 | c.3169T>A (p.Ser1057Thr) c.2995T>A (p.Ser999Thr) n.3146T>A c.2992T>A (p.Ser998Thr) c.3166T>A (p.Ser1056Thr) | |
7 | g.41965905C>A | CA367319021 | GLI3 | c.3168G>T (p.Gln1056His) c.2994G>T (p.Gln998His) n.3145G>T c.2991G>T (p.Gln997His) c.3165G>T (p.Gln1055His) | |
7 | g.41965905C>G | CA367319022 | GLI3 | c.3168G>C (p.Gln1056His) c.2994G>C (p.Gln998His) n.3145G>C c.2991G>C (p.Gln997His) c.3165G>C (p.Gln1055His) | |
7 | g.41965905C>T | CA454661805 | GLI3 | c.3168G>A (p.Gln1056=) c.2994G>A (p.Gln998=) n.3145G>A c.2991G>A (p.Gln997=) c.3165G>A (p.Gln1055=) | |
7 | g.41965906T>A | CA367319024 | GLI3 | c.3167A>T (p.Gln1056Leu) c.2993A>T (p.Gln998Leu) n.3144A>T c.2990A>T (p.Gln997Leu) c.3164A>T (p.Gln1055Leu) | |
7 | g.41965906T>C | CA367319023 | GLI3 | c.3167A>G (p.Gln1056Arg) c.2993A>G (p.Gln998Arg) n.3144A>G c.2990A>G (p.Gln997Arg) c.3164A>G (p.Gln1055Arg) | gnomAD v4 |
7 | g.41965906T>G | CA4230428 | GLI3 | c.3167A>C (p.Gln1056Pro) c.2993A>C (p.Gln998Pro) n.3144A>C c.2990A>C (p.Gln997Pro) c.3164A>C (p.Gln1055Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965906T= | CA1702660992 | GLI3 | c.3167A= (p.Gln1056=) c.2993A= (p.Gln998=) n.3144A= c.2990A= (p.Gln997=) c.3164A= (p.Gln1055=) | |
7 | g.41965907G>A | CA367319026 | GLI3 | c.3166C>T (p.Gln1056Ter) c.2992C>T (p.Gln998Ter) n.3143C>T c.2989C>T (p.Gln997Ter) c.3163C>T (p.Gln1055Ter) | |
7 | g.41965907G>C | CA367319025 | GLI3 | c.3166C>G (p.Gln1056Glu) c.2992C>G (p.Gln998Glu) n.3143C>G c.2989C>G (p.Gln997Glu) c.3163C>G (p.Gln1055Glu) | |
7 | g.41965907G= | CA1702660993 | GLI3 | c.3166C= (p.Gln1056=) c.2992C= (p.Gln998=) n.3143C= c.2989C= (p.Gln997=) c.3163C= (p.Gln1055=) | |
7 | g.41965907G>T | CA156904524 | GLI3 | c.3166C>A (p.Gln1056Lys) c.2992C>A (p.Gln998Lys) n.3143C>A c.2989C>A (p.Gln997Lys) c.3163C>A (p.Gln1055Lys) | dbSNP gnomAD v4 |
7 | g.41965908G>A | CA4230429 | GLI3 | c.3165C>T (p.Gly1055=) c.2991C>T (p.Gly997=) n.3142C>T c.2988C>T (p.Gly996=) c.3162C>T (p.Gly1054=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965908G>C | CA454661806 | GLI3 | c.3165C>G (p.Gly1055=) c.2991C>G (p.Gly997=) n.3142C>G c.2988C>G (p.Gly996=) c.3162C>G (p.Gly1054=) | |
7 | g.41965908G= | CA1702660994 | GLI3 | c.3165C= (p.Gly1055=) c.2991C= (p.Gly997=) n.3142C= c.2988C= (p.Gly996=) c.3162C= (p.Gly1054=) | |
7 | g.41965908G>T | CA454661807 | GLI3 | c.3165C>A (p.Gly1055=) c.2991C>A (p.Gly997=) n.3142C>A c.2988C>A (p.Gly996=) c.3162C>A (p.Gly1054=) | |
7 | g.41965909C>A | CA367319027 | GLI3 | c.3164G>T (p.Gly1055Val) c.2990G>T (p.Gly997Val) n.3141G>T c.2987G>T (p.Gly996Val) c.3161G>T (p.Gly1054Val) | gnomAD v4 COSMIC |
7 | g.41965909C>G | CA367319028 | GLI3 | c.3164G>C (p.Gly1055Ala) c.2990G>C (p.Gly997Ala) n.3141G>C c.2987G>C (p.Gly996Ala) c.3161G>C (p.Gly1054Ala) | |
7 | g.41965909C>T | CA367319029 | GLI3 | c.3164G>A (p.Gly1055Asp) c.2990G>A (p.Gly997Asp) n.3141G>A c.2987G>A (p.Gly996Asp) c.3161G>A (p.Gly1054Asp) | gnomAD v4 |
7 | g.41965910C>A | CA367319030 | GLI3 | c.3163G>T (p.Gly1055Cys) c.2989G>T (p.Gly997Cys) n.3140G>T c.2986G>T (p.Gly996Cys) c.3160G>T (p.Gly1054Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965910C= | CA1702660995 | GLI3 | c.3163G= (p.Gly1055=) c.2989G= (p.Gly997=) n.3140G= c.2986G= (p.Gly996=) c.3160G= (p.Gly1054=) | |
7 | g.41965910C>G | CA367319031 | GLI3 | c.3163G>C (p.Gly1055Arg) c.2989G>C (p.Gly997Arg) n.3140G>C c.2986G>C (p.Gly996Arg) c.3160G>C (p.Gly1054Arg) | gnomAD v4 |
7 | g.41965910C>T | CA367319032 | GLI3 | c.3163G>A (p.Gly1055Ser) c.2989G>A (p.Gly997Ser) n.3140G>A c.2986G>A (p.Gly996Ser) c.3160G>A (p.Gly1054Ser) | dbSNP gnomAD v4 COSMIC |
7 | g.41965911G>A | CA4230430 | GLI3 | c.3162C>T (p.Gly1054=) c.2988C>T (p.Gly996=) n.3139C>T c.2985C>T (p.Gly995=) c.3159C>T (p.Gly1053=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41965911G>C | CA454661808 | GLI3 | c.3162C>G (p.Gly1054=) c.2988C>G (p.Gly996=) n.3139C>G c.2985C>G (p.Gly995=) c.3159C>G (p.Gly1053=) | |
7 | g.41965911G= | CA1702660996 | GLI3 | c.3162C= (p.Gly1054=) c.2988C= (p.Gly996=) n.3139C= c.2985C= (p.Gly995=) c.3159C= (p.Gly1053=) | |
7 | g.41965911G>T | CA454661809 | GLI3 | c.3162C>A (p.Gly1054=) c.2988C>A (p.Gly996=) n.3139C>A c.2985C>A (p.Gly995=) c.3159C>A (p.Gly1053=) | dbSNP |
7 | g.41965912C>A | CA367319033 | GLI3 | c.3161G>T (p.Gly1054Val) c.2987G>T (p.Gly996Val) n.3138G>T c.2984G>T (p.Gly995Val) c.3158G>T (p.Gly1053Val) | |
7 | g.41965912C>G | CA367319034 | GLI3 | c.3161G>C (p.Gly1054Ala) c.2987G>C (p.Gly996Ala) n.3138G>C c.2984G>C (p.Gly995Ala) c.3158G>C (p.Gly1053Ala) | |
7 | g.41965912C>T | CA367319035 | GLI3 | c.3161G>A (p.Gly1054Asp) c.2987G>A (p.Gly996Asp) n.3138G>A c.2984G>A (p.Gly995Asp) c.3158G>A (p.Gly1053Asp) | |
7 | g.41965913C>A | CA367319037 | GLI3 | c.3160G>T (p.Gly1054Cys) c.2986G>T (p.Gly996Cys) n.3137G>T c.2983G>T (p.Gly995Cys) c.3157G>T (p.Gly1053Cys) | |
7 | g.41965913C= | CA1702660997 | GLI3 | c.3160G= (p.Gly1054=) c.2986G= (p.Gly996=) n.3137G= c.2983G= (p.Gly995=) c.3157G= (p.Gly1053=) | |
7 | g.41965913C>G | CA367319036 | GLI3 | c.3160G>C (p.Gly1054Arg) c.2986G>C (p.Gly996Arg) n.3137G>C c.2983G>C (p.Gly995Arg) c.3157G>C (p.Gly1053Arg) | |
7 | g.41965913C>T | CA4230431 | GLI3 | c.3160G>A (p.Gly1054Ser) c.2986G>A (p.Gly996Ser) n.3137G>A c.2983G>A (p.Gly995Ser) c.3157G>A (p.Gly1053Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41965914C>A | CA367319038 | GLI3 | c.3159G>T (p.Glu1053Asp) c.2985G>T (p.Glu995Asp) n.3136G>T c.2982G>T (p.Glu994Asp) c.3156G>T (p.Glu1052Asp) | |
7 | g.41965914C= | CA1702660998 | GLI3 | c.3159G= (p.Glu1053=) c.2985G= (p.Glu995=) n.3136G= c.2982G= (p.Glu994=) c.3156G= (p.Glu1052=) | |
7 | g.41965914C>G | CA367319039 | GLI3 | c.3159G>C (p.Glu1053Asp) c.2985G>C (p.Glu995Asp) n.3136G>C c.2982G>C (p.Glu994Asp) c.3156G>C (p.Glu1052Asp) | dbSNP |
7 | g.41965914C>T | CA454661810 | GLI3 | c.3159G>A (p.Glu1053=) c.2985G>A (p.Glu995=) n.3136G>A c.2982G>A (p.Glu994=) c.3156G>A (p.Glu1052=) | |
7 | g.41965915T>A | CA367319040 | GLI3 | c.3158A>T (p.Glu1053Val) c.2984A>T (p.Glu995Val) n.3135A>T c.2981A>T (p.Glu994Val) c.3155A>T (p.Glu1052Val) | |
7 | g.41965915T>C | CA367319041 | GLI3 | c.3158A>G (p.Glu1053Gly) c.2984A>G (p.Glu995Gly) n.3135A>G c.2981A>G (p.Glu994Gly) c.3155A>G (p.Glu1052Gly) | gnomAD v4 |
7 | g.41965915T>G | CA367319042 | GLI3 | c.3158A>C (p.Glu1053Ala) c.2984A>C (p.Glu995Ala) n.3135A>C c.2981A>C (p.Glu994Ala) c.3155A>C (p.Glu1052Ala) | gnomAD v4 |
7 | g.41965916C>A | CA367319043 | GLI3 | c.3157G>T (p.Glu1053Ter) c.2983G>T (p.Glu995Ter) n.3134G>T c.2980G>T (p.Glu994Ter) c.3154G>T (p.Glu1052Ter) | |
7 | g.41965916C= | CA1702660999 | GLI3 | c.3157G= (p.Glu1053=) c.2983G= (p.Glu995=) n.3134G= c.2980G= (p.Glu994=) c.3154G= (p.Glu1052=) | |
7 | g.41965916C>G | CA367319044 | GLI3 | c.3157G>C (p.Glu1053Gln) c.2983G>C (p.Glu995Gln) n.3134G>C c.2980G>C (p.Glu994Gln) c.3154G>C (p.Glu1052Gln) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41965916C>T | CA367319045 | GLI3 | c.3157G>A (p.Glu1053Lys) c.2983G>A (p.Glu995Lys) n.3134G>A c.2980G>A (p.Glu994Lys) c.3154G>A (p.Glu1052Lys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41965917G>A | CA4230432 | GLI3 | c.3156C>T (p.Pro1052=) c.2982C>T (p.Pro994=) n.3133C>T c.2979C>T (p.Pro993=) c.3153C>T (p.Pro1051=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41965917G>C | CA454661811 | GLI3 | c.3156C>G (p.Pro1052=) c.2982C>G (p.Pro994=) n.3133C>G c.2979C>G (p.Pro993=) c.3153C>G (p.Pro1051=) | gnomAD v4 |
7 | g.41965917G= | CA1702661000 | GLI3 | c.3156C= (p.Pro1052=) c.2982C= (p.Pro994=) n.3133C= c.2979C= (p.Pro993=) c.3153C= (p.Pro1051=) | |
7 | g.41965917G>T | CA454661812 | GLI3 | c.3156C>A (p.Pro1052=) c.2982C>A (p.Pro994=) n.3133C>A c.2979C>A (p.Pro993=) c.3153C>A (p.Pro1051=) | |
7 | g.41965918G>A | CA367319046 | GLI3 | c.3155C>T (p.Pro1052Leu) c.2981C>T (p.Pro994Leu) n.3132C>T c.2978C>T (p.Pro993Leu) c.3152C>T (p.Pro1051Leu) | COSMIC |
7 | g.41965918G>C | CA367319047 | GLI3 | c.3155C>G (p.Pro1052Arg) c.2981C>G (p.Pro994Arg) n.3132C>G c.2978C>G (p.Pro993Arg) c.3152C>G (p.Pro1051Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.41965918G>T | CA367319048 | GLI3 | c.3155C>A (p.Pro1052His) c.2981C>A (p.Pro994His) n.3132C>A c.2978C>A (p.Pro993His) c.3152C>A (p.Pro1051His) | |
7 | g.41965919G>A | CA367319050 | GLI3 | c.3154C>T (p.Pro1052Ser) c.2980C>T (p.Pro994Ser) n.3131C>T c.2977C>T (p.Pro993Ser) c.3151C>T (p.Pro1051Ser) | |
7 | g.41965919G>C | CA367319051 | GLI3 | c.3154C>G (p.Pro1052Ala) c.2980C>G (p.Pro994Ala) n.3131C>G c.2977C>G (p.Pro993Ala) c.3151C>G (p.Pro1051Ala) | |
7 | g.41965919G= | CA1702661001 | GLI3 | c.3154C= (p.Pro1052=) c.2980C= (p.Pro994=) n.3131C= c.2977C= (p.Pro993=) c.3151C= (p.Pro1051=) | |
7 | g.41965919G>T | CA367319049 | GLI3 | c.3154C>A (p.Pro1052Thr) c.2980C>A (p.Pro994Thr) n.3131C>A c.2977C>A (p.Pro993Thr) c.3151C>A (p.Pro1051Thr) | dbSNP gnomAD v4 |
7 | g.41965920C>A | CA454661813 | GLI3 | c.3153G>T (p.Arg1051=) c.2979G>T (p.Arg993=) n.3130G>T c.2976G>T (p.Arg992=) c.3150G>T (p.Arg1050=) | dbSNP gnomAD v2 |
7 | g.41965920C= | CA1702661002 | GLI3 | c.3153G= (p.Arg1051=) c.2979G= (p.Arg993=) n.3130G= c.2976G= (p.Arg992=) c.3150G= (p.Arg1050=) | |
7 | g.41965920C>G | CA454661814 | GLI3 | c.3153G>C (p.Arg1051=) c.2979G>C (p.Arg993=) n.3130G>C c.2976G>C (p.Arg992=) c.3150G>C (p.Arg1050=) | |
7 | g.41965920C>T | CA4230433 | GLI3 | c.3153G>A (p.Arg1051=) c.2979G>A (p.Arg993=) n.3130G>A c.2976G>A (p.Arg992=) c.3150G>A (p.Arg1050=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965921C>A | CA367319052 | GLI3 | c.3152G>T (p.Arg1051Leu) c.2978G>T (p.Arg993Leu) n.3129G>T c.2975G>T (p.Arg992Leu) c.3149G>T (p.Arg1050Leu) | COSMIC |
7 | g.41965921C= | CA1702661003 | GLI3 | c.3152G= (p.Arg1051=) c.2978G= (p.Arg993=) n.3129G= c.2975G= (p.Arg992=) c.3149G= (p.Arg1050=) | |
7 | g.41965921C>G | CA367319053 | GLI3 | c.3152G>C (p.Arg1051Pro) c.2978G>C (p.Arg993Pro) n.3129G>C c.2975G>C (p.Arg992Pro) c.3149G>C (p.Arg1050Pro) | |
7 | g.41965921C>T | CA367319054 | GLI3 | c.3152G>A (p.Arg1051Gln) c.2978G>A (p.Arg993Gln) n.3129G>A c.2975G>A (p.Arg992Gln) c.3149G>A (p.Arg1050Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.41965922G>A | CA4230434 | GLI3 | c.3151C>T (p.Arg1051Trp) c.2977C>T (p.Arg993Trp) n.3128C>T c.2974C>T (p.Arg992Trp) c.3148C>T (p.Arg1050Trp) | dbSNP ExAC gnomAD v2 COSMIC |
7 | g.41965922G>C | CA367319055 | GLI3 | c.3151C>G (p.Arg1051Gly) c.2977C>G (p.Arg993Gly) n.3128C>G c.2974C>G (p.Arg992Gly) c.3148C>G (p.Arg1050Gly) | |
7 | g.41965922G= | CA1702661004 | GLI3 | c.3151C= (p.Arg1051=) c.2977C= (p.Arg993=) n.3128C= c.2974C= (p.Arg992=) c.3148C= (p.Arg1050=) | |
7 | g.41965922G>T | CA454661815 | GLI3 | c.3151C>A (p.Arg1051=) c.2977C>A (p.Arg993=) n.3128C>A c.2974C>A (p.Arg992=) c.3148C>A (p.Arg1050=) | |
7 | g.41965923C>A | CA454661816 | GLI3 | c.3150G>T (p.Thr1050=) c.2976G>T (p.Thr992=) n.3127G>T c.2973G>T (p.Thr991=) c.3147G>T (p.Thr1049=) | |
7 | g.41965923C= | CA1702661005 | GLI3 | c.3150G= (p.Thr1050=) c.2976G= (p.Thr992=) n.3127G= c.2973G= (p.Thr991=) c.3147G= (p.Thr1049=) | |
7 | g.41965923C>G | CA454661817 | GLI3 | c.3150G>C (p.Thr1050=) c.2976G>C (p.Thr992=) n.3127G>C c.2973G>C (p.Thr991=) c.3147G>C (p.Thr1049=) | |
7 | g.41965923C>T | CA156904562 | GLI3 | c.3150G>A (p.Thr1050=) c.2976G>A (p.Thr992=) n.3127G>A c.2973G>A (p.Thr991=) c.3147G>A (p.Thr1049=) | dbSNP gnomAD v4 COSMIC |
7 | g.41965924G>A | CA4230435 | GLI3 | c.3149C>T (p.Thr1050Met) c.2975C>T (p.Thr992Met) n.3126C>T c.2972C>T (p.Thr991Met) c.3146C>T (p.Thr1049Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41965924G>C | CA367319057 | GLI3 | c.3149C>G (p.Thr1050Arg) c.2975C>G (p.Thr992Arg) n.3126C>G c.2972C>G (p.Thr991Arg) c.3146C>G (p.Thr1049Arg) | |
7 | g.41965924G= | CA1702661006 | GLI3 | c.3149C= (p.Thr1050=) c.2975C= (p.Thr992=) n.3126C= c.2972C= (p.Thr991=) c.3146C= (p.Thr1049=) | |
7 | g.41965924G>T | CA367319056 | GLI3 | c.3149C>A (p.Thr1050Lys) c.2975C>A (p.Thr992Lys) n.3126C>A c.2972C>A (p.Thr991Lys) c.3146C>A (p.Thr1049Lys) | gnomAD v4 |
7 | g.41965925T>A | CA4230436 | GLI3 | c.3148A>T (p.Thr1050Ser) c.2974A>T (p.Thr992Ser) n.3125A>T c.2971A>T (p.Thr991Ser) c.3145A>T (p.Thr1049Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965925T>C | CA367319058 | GLI3 | c.3148A>G (p.Thr1050Ala) c.2974A>G (p.Thr992Ala) n.3125A>G c.2971A>G (p.Thr991Ala) c.3145A>G (p.Thr1049Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41965925T>G | CA367319059 | GLI3 | c.3148A>C (p.Thr1050Pro) c.2974A>C (p.Thr992Pro) n.3125A>C c.2971A>C (p.Thr991Pro) c.3145A>C (p.Thr1049Pro) | |
7 | g.41965925T= | CA1702661007 | GLI3 | c.3148A= (p.Thr1050=) c.2974A= (p.Thr992=) n.3125A= c.2971A= (p.Thr991=) c.3145A= (p.Thr1049=) | |
7 | g.41965926G>A | CA4230437 | GLI3 | c.3147C>T (p.Tyr1049=) c.2973C>T (p.Tyr991=) n.3124C>T c.2970C>T (p.Tyr990=) c.3144C>T (p.Tyr1048=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965926G>C | CA367319060 | GLI3 | c.3147C>G (p.Tyr1049Ter) c.2973C>G (p.Tyr991Ter) n.3124C>G c.2970C>G (p.Tyr990Ter) c.3144C>G (p.Tyr1048Ter) | ClinVar dbSNP COSMIC |
7 | g.41965926G= | CA1702661008 | GLI3 | c.3147C= (p.Tyr1049=) c.2973C= (p.Tyr991=) n.3124C= c.2970C= (p.Tyr990=) c.3144C= (p.Tyr1048=) | |
7 | g.41965926G>T | CA367319061 | GLI3 | c.3147C>A (p.Tyr1049Ter) c.2973C>A (p.Tyr991Ter) n.3124C>A c.2970C>A (p.Tyr990Ter) c.3144C>A (p.Tyr1048Ter) | ClinVar |
7 | g.41965927T>A | CA367319062 | GLI3 | c.3146A>T (p.Tyr1049Phe) c.2972A>T (p.Tyr991Phe) n.3123A>T c.2969A>T (p.Tyr990Phe) c.3143A>T (p.Tyr1048Phe) | |
7 | g.41965927T>C | CA367319064 | GLI3 | c.3146A>G (p.Tyr1049Cys) c.2972A>G (p.Tyr991Cys) n.3123A>G c.2969A>G (p.Tyr990Cys) c.3143A>G (p.Tyr1048Cys) | |
7 | g.41965927T>G | CA367319063 | GLI3 | c.3146A>C (p.Tyr1049Ser) c.2972A>C (p.Tyr991Ser) n.3123A>C c.2969A>C (p.Tyr990Ser) c.3143A>C (p.Tyr1048Ser) | |
7 | g.41965928A>C | CA367319065 | GLI3 | c.3145T>G (p.Tyr1049Asp) c.2971T>G (p.Tyr991Asp) n.3122T>G c.2968T>G (p.Tyr990Asp) c.3142T>G (p.Tyr1048Asp) | |
7 | g.41965928A>G | CA367319066 | GLI3 | c.3145T>C (p.Tyr1049His) c.2971T>C (p.Tyr991His) n.3122T>C c.2968T>C (p.Tyr990His) c.3142T>C (p.Tyr1048His) | gnomAD v4 |
7 | g.41965928A>T | CA367319067 | GLI3 | c.3145T>A (p.Tyr1049Asn) c.2971T>A (p.Tyr991Asn) n.3122T>A c.2968T>A (p.Tyr990Asn) c.3142T>A (p.Tyr1048Asn) | |
7 | g.41965929A>C | CA367319068 | GLI3 | c.3144T>G (p.Asn1048Lys) c.2970T>G (p.Asn990Lys) n.3121T>G c.2967T>G (p.Asn989Lys) c.3141T>G (p.Asn1047Lys) | |
7 | g.41965929A>G | CA454661818 | GLI3 | c.3144T>C (p.Asn1048=) c.2970T>C (p.Asn990=) n.3121T>C c.2967T>C (p.Asn989=) c.3141T>C (p.Asn1047=) | gnomAD v3 gnomAD v4 |
7 | g.41965929A>T | CA367319069 | GLI3 | c.3144T>A (p.Asn1048Lys) c.2970T>A (p.Asn990Lys) n.3121T>A c.2967T>A (p.Asn989Lys) c.3141T>A (p.Asn1047Lys) | |
7 | g.41965930T>A | CA367319070 | GLI3 | c.3143A>T (p.Asn1048Ile) c.2969A>T (p.Asn990Ile) n.3120A>T c.2966A>T (p.Asn989Ile) c.3140A>T (p.Asn1047Ile) | |
7 | g.41965930T>C | CA367319071 | GLI3 | c.3143A>G (p.Asn1048Ser) c.2969A>G (p.Asn990Ser) n.3120A>G c.2966A>G (p.Asn989Ser) c.3140A>G (p.Asn1047Ser) | |
7 | g.41965930T>G | CA367319072 | GLI3 | c.3143A>C (p.Asn1048Thr) c.2969A>C (p.Asn990Thr) n.3120A>C c.2966A>C (p.Asn989Thr) c.3140A>C (p.Asn1047Thr) | |
7 | g.41965931T>A | CA367319073 | GLI3 | c.3142A>T (p.Asn1048Tyr) c.2968A>T (p.Asn990Tyr) n.3119A>T c.2965A>T (p.Asn989Tyr) c.3139A>T (p.Asn1047Tyr) | |
7 | g.41965931T>C | CA367319074 | GLI3 | c.3142A>G (p.Asn1048Asp) c.2968A>G (p.Asn990Asp) n.3119A>G c.2965A>G (p.Asn989Asp) c.3139A>G (p.Asn1047Asp) | |
7 | g.41965931T>G | CA367319075 | GLI3 | c.3142A>C (p.Asn1048His) c.2968A>C (p.Asn990His) n.3119A>C c.2965A>C (p.Asn989His) c.3139A>C (p.Asn1047His) | |
7 | g.41965932C>A | CA367319076 | GLI3 | c.3141G>T (p.Gln1047His) c.2967G>T (p.Gln989His) n.3118G>T c.2964G>T (p.Gln988His) c.3138G>T (p.Gln1046His) | COSMIC |
7 | g.41965932C= | CA1702661009 | GLI3 | c.3141G= (p.Gln1047=) c.2967G= (p.Gln989=) n.3118G= c.2964G= (p.Gln988=) c.3138G= (p.Gln1046=) | |
7 | g.41965932C>G | CA367319077 | GLI3 | c.3141G>C (p.Gln1047His) c.2967G>C (p.Gln989His) n.3118G>C c.2964G>C (p.Gln988His) c.3138G>C (p.Gln1046His) | |
7 | g.41965932C>T | CA4230438 | GLI3 | c.3141G>A (p.Gln1047=) c.2967G>A (p.Gln989=) n.3118G>A c.2964G>A (p.Gln988=) c.3138G>A (p.Gln1046=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965932_41965933delinsCT | CA1702661010 | GLI3 | c.3140_3141delinsAG (p.Gln1047=) c.2966_2967delinsAG (p.Gln989=) n.3117_3118delinsAG c.2963_2964delinsAG (p.Gln988=) c.3137_3138delinsAG (p.Gln1046=) | |
7 | g.41965932_41965933delinsTG | CA16618461 | GLI3 | c.3140_3141delinsCA (p.Gln1047Pro) c.2966_2967delinsCA (p.Gln989Pro) n.3117_3118delinsCA c.2963_2964delinsCA (p.Gln988Pro) c.3137_3138delinsCA (p.Gln1046Pro) | ClinVar dbSNP |
7 | g.41965933T>A | CA367319078 | GLI3 | c.3140A>T (p.Gln1047Leu) c.2966A>T (p.Gln989Leu) n.3117A>T c.2963A>T (p.Gln988Leu) c.3137A>T (p.Gln1046Leu) | |
7 | g.41965933T>C | CA367319079 | GLI3 | c.3140A>G (p.Gln1047Arg) c.2966A>G (p.Gln989Arg) n.3117A>G c.2963A>G (p.Gln988Arg) c.3137A>G (p.Gln1046Arg) | |
7 | g.41965933T>G | CA4230439 | GLI3 | c.3140A>C (p.Gln1047Pro) c.2966A>C (p.Gln989Pro) n.3117A>C c.2963A>C (p.Gln988Pro) c.3137A>C (p.Gln1046Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965933T= | CA1702661011 | GLI3 | c.3140A= (p.Gln1047=) c.2966A= (p.Gln989=) n.3117A= c.2963A= (p.Gln988=) c.3137A= (p.Gln1046=) | |
7 | g.41965934G>A | CA367319080 | GLI3 | c.3139C>T (p.Gln1047Ter) c.2965C>T (p.Gln989Ter) n.3116C>T c.2962C>T (p.Gln988Ter) c.3136C>T (p.Gln1046Ter) | |
7 | g.41965934G>C | CA367319081 | GLI3 | c.3139C>G (p.Gln1047Glu) c.2965C>G (p.Gln989Glu) n.3116C>G c.2962C>G (p.Gln988Glu) c.3136C>G (p.Gln1046Glu) | |
7 | g.41965934G= | CA1702661012 | GLI3 | c.3139C= (p.Gln1047=) c.2965C= (p.Gln989=) n.3116C= c.2962C= (p.Gln988=) c.3136C= (p.Gln1046=) | |
7 | g.41965934G>T | CA367319082 | GLI3 | c.3139C>A (p.Gln1047Lys) c.2965C>A (p.Gln989Lys) n.3116C>A c.2962C>A (p.Gln988Lys) c.3136C>A (p.Gln1046Lys) | dbSNP |
7 | g.41965935A>C | CA454661821 | GLI3 | c.3138T>G (p.Leu1046=) c.2964T>G (p.Leu988=) n.3115T>G c.2961T>G (p.Leu987=) c.3135T>G (p.Leu1045=) | |
7 | g.41965935A>G | CA454661820 | GLI3 | c.3138T>C (p.Leu1046=) c.2964T>C (p.Leu988=) n.3115T>C c.2961T>C (p.Leu987=) c.3135T>C (p.Leu1045=) | |
7 | g.41965935A>T | CA454661819 | GLI3 | c.3138T>A (p.Leu1046=) c.2964T>A (p.Leu988=) n.3115T>A c.2961T>A (p.Leu987=) c.3135T>A (p.Leu1045=) | COSMIC |
7 | g.41965936A>C | CA367319083 | GLI3 | c.3137T>G (p.Leu1046Arg) c.2963T>G (p.Leu988Arg) n.3114T>G c.2960T>G (p.Leu987Arg) c.3134T>G (p.Leu1045Arg) | |
7 | g.41965936A>G | CA367319084 | GLI3 | c.3137T>C (p.Leu1046Pro) c.2963T>C (p.Leu988Pro) n.3114T>C c.2960T>C (p.Leu987Pro) c.3134T>C (p.Leu1045Pro) | ClinVar |
7 | g.41965936A>T | CA367319085 | GLI3 | c.3137T>A (p.Leu1046His) c.2963T>A (p.Leu988His) n.3114T>A c.2960T>A (p.Leu987His) c.3134T>A (p.Leu1045His) | |
7 | g.41965937G>A | CA367319086 | GLI3 | c.3136C>T (p.Leu1046Phe) c.2962C>T (p.Leu988Phe) n.3113C>T c.2959C>T (p.Leu987Phe) c.3133C>T (p.Leu1045Phe) | |
7 | g.41965937G>C | CA367319087 | GLI3 | c.3136C>G (p.Leu1046Val) c.2962C>G (p.Leu988Val) n.3113C>G c.2959C>G (p.Leu987Val) c.3133C>G (p.Leu1045Val) | |
7 | g.41965937G>T | CA367319088 | GLI3 | c.3136C>A (p.Leu1046Ile) c.2962C>A (p.Leu988Ile) n.3113C>A c.2959C>A (p.Leu987Ile) c.3133C>A (p.Leu1045Ile) | dbSNP gnomAD v4 |
7 | g.41965938C>A | CA454661822 | GLI3 | c.3135G>T (p.Val1045=) c.2961G>T (p.Val987=) n.3112G>T c.2958G>T (p.Val986=) c.3132G>T (p.Val1044=) | |
7 | g.41965938C>G | CA454661823 | GLI3 | c.3135G>C (p.Val1045=) c.2961G>C (p.Val987=) n.3112G>C c.2958G>C (p.Val986=) c.3132G>C (p.Val1044=) | |
7 | g.41965938C>T | CA454661824 | GLI3 | c.3135G>A (p.Val1045=) c.2961G>A (p.Val987=) n.3112G>A c.2958G>A (p.Val986=) c.3132G>A (p.Val1044=) | |
7 | g.41965939A>C | CA367319091 | GLI3 | c.3134T>G (p.Val1045Gly) c.2960T>G (p.Val987Gly) n.3111T>G c.2957T>G (p.Val986Gly) c.3131T>G (p.Val1044Gly) | |
7 | g.41965939A>G | CA367319089 | GLI3 | c.3134T>C (p.Val1045Ala) c.2960T>C (p.Val987Ala) n.3111T>C c.2957T>C (p.Val986Ala) c.3131T>C (p.Val1044Ala) | gnomAD v4 |
7 | g.41965939A>T | CA367319090 | GLI3 | c.3134T>A (p.Val1045Glu) c.2960T>A (p.Val987Glu) n.3111T>A c.2957T>A (p.Val986Glu) c.3131T>A (p.Val1044Glu) | gnomAD v4 |