Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.41965843_41965845dupCA573904735GLI3c.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
7g.41965844A>CCA367318893GLI3c.3229T>G (p.Ser1077Ala)
c.3055T>G (p.Ser1019Ala)
n.3206T>G
c.3052T>G (p.Ser1018Ala)
c.3226T>G (p.Ser1076Ala)
7g.41965844A>GCA367318891GLI3c.3229T>C (p.Ser1077Pro)
c.3055T>C (p.Ser1019Pro)
n.3206T>C
c.3052T>C (p.Ser1018Pro)
c.3226T>C (p.Ser1076Pro)
7g.41965844A>TCA367318892GLI3c.3229T>A (p.Ser1077Thr)
c.3055T>A (p.Ser1019Thr)
n.3206T>A
c.3052T>A (p.Ser1018Thr)
c.3226T>A (p.Ser1076Thr)
7g.41965845C>ACA367318894GLI3c.3228G>T (p.Glu1076Asp)
c.3054G>T (p.Glu1018Asp)
n.3205G>T
c.3051G>T (p.Glu1017Asp)
c.3225G>T (p.Glu1075Asp)
7g.41965845C>GCA367318895GLI3c.3228G>C (p.Glu1076Asp)
c.3054G>C (p.Glu1018Asp)
n.3205G>C
c.3051G>C (p.Glu1017Asp)
c.3225G>C (p.Glu1075Asp)
7g.41965845C>TCA454661765GLI3c.3228G>A (p.Glu1076=)
c.3054G>A (p.Glu1018=)
n.3205G>A
c.3051G>A (p.Glu1017=)
c.3225G>A (p.Glu1075=)
 gnomAD v4
7g.41965846T>ACA367318896GLI3c.3227A>T (p.Glu1076Val)
c.3053A>T (p.Glu1018Val)
n.3204A>T
c.3050A>T (p.Glu1017Val)
c.3224A>T (p.Glu1075Val)
7g.41965846T>CCA367318897GLI3c.3227A>G (p.Glu1076Gly)
c.3053A>G (p.Glu1018Gly)
n.3204A>G
c.3050A>G (p.Glu1017Gly)
c.3224A>G (p.Glu1075Gly)
7g.41965846T>GCA367318898GLI3c.3227A>C (p.Glu1076Ala)
c.3053A>C (p.Glu1018Ala)
n.3204A>C
c.3050A>C (p.Glu1017Ala)
c.3224A>C (p.Glu1075Ala)
7g.41965847C>ACA367318899GLI3c.3226G>T (p.Glu1076Ter)
c.3052G>T (p.Glu1018Ter)
n.3203G>T
c.3049G>T (p.Glu1017Ter)
c.3223G>T (p.Glu1075Ter)
7g.41965847C>GCA367318900GLI3c.3226G>C (p.Glu1076Gln)
c.3052G>C (p.Glu1018Gln)
n.3203G>C
c.3049G>C (p.Glu1017Gln)
c.3223G>C (p.Glu1075Gln)
7g.41965847C>TCA367318901GLI3c.3226G>A (p.Glu1076Lys)
c.3052G>A (p.Glu1018Lys)
n.3203G>A
c.3049G>A (p.Glu1017Lys)
c.3223G>A (p.Glu1075Lys)
 COSMIC
7g.41965848C>ACA454661766GLI3c.3225G>T (p.Leu1075=)
c.3051G>T (p.Leu1017=)
n.3202G>T
c.3048G>T (p.Leu1016=)
c.3222G>T (p.Leu1074=)
7g.41965848C=CA1702660966GLI3c.3225G= (p.Leu1075=)
c.3051G= (p.Leu1017=)
n.3202G=
c.3048G= (p.Leu1016=)
c.3222G= (p.Leu1074=)
7g.41965848C>GCA454661767GLI3c.3225G>C (p.Leu1075=)
c.3051G>C (p.Leu1017=)
n.3202G>C
c.3048G>C (p.Leu1016=)
c.3222G>C (p.Leu1074=)
7g.41965848C>TCA4230418GLI3c.3225G>A (p.Leu1075=)
c.3051G>A (p.Leu1017=)
n.3202G>A
c.3048G>A (p.Leu1016=)
c.3222G>A (p.Leu1074=)
 dbSNP ExAC
7g.41965849delCA2582341644GLI3c.3224del (p.Leu1075ArgfsTer4)
c.3050del (p.Leu1017ArgfsTer4)
n.3201del
c.3047del (p.Leu1016ArgfsTer4)
c.3221del (p.Leu1074ArgfsTer4)
 ClinVar
7g.41965849A>CCA367318902GLI3c.3224T>G (p.Leu1075Arg)
c.3050T>G (p.Leu1017Arg)
n.3201T>G
c.3047T>G (p.Leu1016Arg)
c.3221T>G (p.Leu1074Arg)
7g.41965849A>GCA367318903GLI3c.3224T>C (p.Leu1075Pro)
c.3050T>C (p.Leu1017Pro)
n.3201T>C
c.3047T>C (p.Leu1016Pro)
c.3221T>C (p.Leu1074Pro)
7g.41965849A>TCA367318904GLI3c.3224T>A (p.Leu1075Gln)
c.3050T>A (p.Leu1017Gln)
n.3201T>A
c.3047T>A (p.Leu1016Gln)
c.3221T>A (p.Leu1074Gln)
7g.41965850G>ACA454661768GLI3c.3223C>T (p.Leu1075=)
c.3049C>T (p.Leu1017=)
n.3200C>T
c.3046C>T (p.Leu1016=)
c.3220C>T (p.Leu1074=)
7g.41965850G>CCA367318906GLI3c.3223C>G (p.Leu1075Val)
c.3049C>G (p.Leu1017Val)
n.3200C>G
c.3046C>G (p.Leu1016Val)
c.3220C>G (p.Leu1074Val)
7g.41965850G>TCA367318905GLI3c.3223C>A (p.Leu1075Met)
c.3049C>A (p.Leu1017Met)
n.3200C>A
c.3046C>A (p.Leu1016Met)
c.3220C>A (p.Leu1074Met)
7g.41965851G>ACA454661771GLI3c.3222C>T (p.Thr1074=)
c.3048C>T (p.Thr1016=)
n.3199C>T
c.3045C>T (p.Thr1015=)
c.3219C>T (p.Thr1073=)
 dbSNP
7g.41965851G>CCA454661769GLI3c.3222C>G (p.Thr1074=)
c.3048C>G (p.Thr1016=)
n.3199C>G
c.3045C>G (p.Thr1015=)
c.3219C>G (p.Thr1073=)
7g.41965851G=CA1702660967GLI3c.3222C= (p.Thr1074=)
c.3048C= (p.Thr1016=)
n.3199C=
c.3045C= (p.Thr1015=)
c.3219C= (p.Thr1073=)
7g.41965851G>TCA454661770GLI3c.3222C>A (p.Thr1074=)
c.3048C>A (p.Thr1016=)
n.3199C>A
c.3045C>A (p.Thr1015=)
c.3219C>A (p.Thr1073=)
7g.41965852G>ACA367318907GLI3c.3221C>T (p.Thr1074Ile)
c.3047C>T (p.Thr1016Ile)
n.3198C>T
c.3044C>T (p.Thr1015Ile)
c.3218C>T (p.Thr1073Ile)
7g.41965852G>CCA367318909GLI3c.3221C>G (p.Thr1074Ser)
c.3047C>G (p.Thr1016Ser)
n.3198C>G
c.3044C>G (p.Thr1015Ser)
c.3218C>G (p.Thr1073Ser)
7g.41965852G>TCA367318908GLI3c.3221C>A (p.Thr1074Asn)
c.3047C>A (p.Thr1016Asn)
n.3198C>A
c.3044C>A (p.Thr1015Asn)
c.3218C>A (p.Thr1073Asn)
7g.41965853T>ACA367318910GLI3c.3220A>T (p.Thr1074Ser)
c.3046A>T (p.Thr1016Ser)
n.3197A>T
c.3043A>T (p.Thr1015Ser)
c.3217A>T (p.Thr1073Ser)
7g.41965853T>CCA367318911GLI3c.3220A>G (p.Thr1074Ala)
c.3046A>G (p.Thr1016Ala)
n.3197A>G
c.3043A>G (p.Thr1015Ala)
c.3217A>G (p.Thr1073Ala)
7g.41965853T>GCA367318912GLI3c.3220A>C (p.Thr1074Pro)
c.3046A>C (p.Thr1016Pro)
n.3197A>C
c.3043A>C (p.Thr1015Pro)
c.3217A>C (p.Thr1073Pro)
7g.41965854G>ACA454661772GLI3c.3219C>T (p.Val1073=)
c.3045C>T (p.Val1015=)
n.3196C>T
c.3042C>T (p.Val1014=)
c.3216C>T (p.Val1072=)
7g.41965854G>CCA454661773GLI3c.3219C>G (p.Val1073=)
c.3045C>G (p.Val1015=)
n.3196C>G
c.3042C>G (p.Val1014=)
c.3216C>G (p.Val1072=)
7g.41965854G>TCA454661774GLI3c.3219C>A (p.Val1073=)
c.3045C>A (p.Val1015=)
n.3196C>A
c.3042C>A (p.Val1014=)
c.3216C>A (p.Val1072=)
7g.41965855A>CCA367318913GLI3c.3218T>G (p.Val1073Gly)
c.3044T>G (p.Val1015Gly)
n.3195T>G
c.3041T>G (p.Val1014Gly)
c.3215T>G (p.Val1072Gly)
7g.41965855A>GCA367318914GLI3c.3218T>C (p.Val1073Ala)
c.3044T>C (p.Val1015Ala)
n.3195T>C
c.3041T>C (p.Val1014Ala)
c.3215T>C (p.Val1072Ala)
7g.41965855A>TCA367318915GLI3c.3218T>A (p.Val1073Asp)
c.3044T>A (p.Val1015Asp)
n.3195T>A
c.3041T>A (p.Val1014Asp)
c.3215T>A (p.Val1072Asp)
7g.41965856C>ACA367318916GLI3c.3217G>T (p.Val1073Phe)
c.3043G>T (p.Val1015Phe)
n.3194G>T
c.3040G>T (p.Val1014Phe)
c.3214G>T (p.Val1072Phe)
7g.41965856C>GCA367318917GLI3c.3217G>C (p.Val1073Leu)
c.3043G>C (p.Val1015Leu)
n.3194G>C
c.3040G>C (p.Val1014Leu)
c.3214G>C (p.Val1072Leu)
7g.41965856C>TCA367318918GLI3c.3217G>A (p.Val1073Ile)
c.3043G>A (p.Val1015Ile)
n.3194G>A
c.3040G>A (p.Val1014Ile)
c.3214G>A (p.Val1072Ile)
 dbSNP COSMIC
7g.41965857G>ACA454661775GLI3c.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
7g.41965857G>CCA367318919GLI3c.3216C>G (p.Asn1072Lys)
c.3042C>G (p.Asn1014Lys)
n.3193C>G
c.3039C>G (p.Asn1013Lys)
c.3213C>G (p.Asn1071Lys)
7g.41965857G=CA1702660968GLI3c.3216C= (p.Asn1072=)
c.3042C= (p.Asn1014=)
n.3193C=
c.3039C= (p.Asn1013=)
c.3213C= (p.Asn1071=)
7g.41965857G>TCA367318920GLI3c.3216C>A (p.Asn1072Lys)
c.3042C>A (p.Asn1014Lys)
n.3193C>A
c.3039C>A (p.Asn1013Lys)
c.3213C>A (p.Asn1071Lys)
7g.41965858T>ACA367318923GLI3c.3215A>T (p.Asn1072Ile)
c.3041A>T (p.Asn1014Ile)
n.3192A>T
c.3038A>T (p.Asn1013Ile)
c.3212A>T (p.Asn1071Ile)
7g.41965858T>CCA367318922GLI3c.3215A>G (p.Asn1072Ser)
c.3041A>G (p.Asn1014Ser)
n.3192A>G
c.3038A>G (p.Asn1013Ser)
c.3212A>G (p.Asn1071Ser)
7g.41965858T>GCA367318921GLI3c.3215A>C (p.Asn1072Thr)
c.3041A>C (p.Asn1014Thr)
n.3192A>C
c.3038A>C (p.Asn1013Thr)
c.3212A>C (p.Asn1071Thr)
 dbSNP
7g.41965858T=CA1702660969GLI3c.3215A= (p.Asn1072=)
c.3041A= (p.Asn1014=)
n.3192A=
c.3038A= (p.Asn1013=)
c.3212A= (p.Asn1071=)
7g.41965859T>ACA367318924GLI3c.3214A>T (p.Asn1072Tyr)
c.3040A>T (p.Asn1014Tyr)
n.3191A>T
c.3037A>T (p.Asn1013Tyr)
c.3211A>T (p.Asn1071Tyr)
7g.41965859T>CCA367318925GLI3c.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
7g.41965859T>GCA367318926GLI3c.3214A>C (p.Asn1072His)
c.3040A>C (p.Asn1014His)
n.3191A>C
c.3037A>C (p.Asn1013His)
c.3211A>C (p.Asn1071His)
7g.41965859T=CA1702660970GLI3c.3214A= (p.Asn1072=)
c.3040A= (p.Asn1014=)
n.3191A=
c.3037A= (p.Asn1013=)
c.3211A= (p.Asn1071=)
7g.41965860C>ACA367318927GLI3c.3213G>T (p.Glu1071Asp)
c.3039G>T (p.Glu1013Asp)
n.3190G>T
c.3036G>T (p.Glu1012Asp)
c.3210G>T (p.Glu1070Asp)
 dbSNP
7g.41965860C=CA1702660971GLI3c.3213G= (p.Glu1071=)
c.3039G= (p.Glu1013=)
n.3190G=
c.3036G= (p.Glu1012=)
c.3210G= (p.Glu1070=)
7g.41965860C>GCA367318928GLI3c.3213G>C (p.Glu1071Asp)
c.3039G>C (p.Glu1013Asp)
n.3190G>C
c.3036G>C (p.Glu1012Asp)
c.3210G>C (p.Glu1070Asp)
7g.41965860C>TCA454661776GLI3c.3213G>A (p.Glu1071=)
c.3039G>A (p.Glu1013=)
n.3190G>A
c.3036G>A (p.Glu1012=)
c.3210G>A (p.Glu1070=)
 gnomAD v4
7g.41965861T>ACA367318929GLI3c.3212A>T (p.Glu1071Val)
c.3038A>T (p.Glu1013Val)
n.3189A>T
c.3035A>T (p.Glu1012Val)
c.3209A>T (p.Glu1070Val)
7g.41965861T>CCA367318930GLI3c.3212A>G (p.Glu1071Gly)
c.3038A>G (p.Glu1013Gly)
n.3189A>G
c.3035A>G (p.Glu1012Gly)
c.3209A>G (p.Glu1070Gly)
7g.41965861T>GCA367318931GLI3c.3212A>C (p.Glu1071Ala)
c.3038A>C (p.Glu1013Ala)
n.3189A>C
c.3035A>C (p.Glu1012Ala)
c.3209A>C (p.Glu1070Ala)
7g.41965862C>ACA367318932GLI3c.3211G>T (p.Glu1071Ter)
c.3037G>T (p.Glu1013Ter)
n.3188G>T
c.3034G>T (p.Glu1012Ter)
c.3208G>T (p.Glu1070Ter)
7g.41965862C=CA1702660972GLI3c.3211G= (p.Glu1071=)
c.3037G= (p.Glu1013=)
n.3188G=
c.3034G= (p.Glu1012=)
c.3208G= (p.Glu1070=)
7g.41965862C>GCA367318933GLI3c.3211G>C (p.Glu1071Gln)
c.3037G>C (p.Glu1013Gln)
n.3188G>C
c.3034G>C (p.Glu1012Gln)
c.3208G>C (p.Glu1070Gln)
7g.41965862C>TCA367318934GLI3c.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
7g.41965863G>ACA156904454GLI3c.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
7g.41965863G>CCA454661777GLI3c.3210C>G (p.Thr1070=)
c.3036C>G (p.Thr1012=)
n.3187C>G
c.3033C>G (p.Thr1011=)
c.3207C>G (p.Thr1069=)
7g.41965863G=CA1702660973GLI3c.3210C= (p.Thr1070=)
c.3036C= (p.Thr1012=)
n.3187C=
c.3033C= (p.Thr1011=)
c.3207C= (p.Thr1069=)
7g.41965863G>TCA156904448GLI3c.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
7g.41965864G>ACA367318937GLI3c.3209C>T (p.Thr1070Ile)
c.3035C>T (p.Thr1012Ile)
n.3186C>T
c.3032C>T (p.Thr1011Ile)
c.3206C>T (p.Thr1069Ile)
 gnomAD v4
7g.41965864G>CCA367318936GLI3c.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
7g.41965864G=CA1702660974GLI3c.3209C= (p.Thr1070=)
c.3035C= (p.Thr1012=)
n.3186C=
c.3032C= (p.Thr1011=)
c.3206C= (p.Thr1069=)
7g.41965864G>TCA367318935GLI3c.3209C>A (p.Thr1070Asn)
c.3035C>A (p.Thr1012Asn)
n.3186C>A
c.3032C>A (p.Thr1011Asn)
c.3206C>A (p.Thr1069Asn)
7g.41965865T>ACA4230419GLI3c.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
7g.41965865T>CCA367318939GLI3c.3208A>G (p.Thr1070Ala)
c.3034A>G (p.Thr1012Ala)
n.3185A>G
c.3031A>G (p.Thr1011Ala)
c.3205A>G (p.Thr1069Ala)
7g.41965865T>GCA367318938GLI3c.3208A>C (p.Thr1070Pro)
c.3034A>C (p.Thr1012Pro)
n.3185A>C
c.3031A>C (p.Thr1011Pro)
c.3205A>C (p.Thr1069Pro)
7g.41965865T=CA1702660975GLI3c.3208A= (p.Thr1070=)
c.3034A= (p.Thr1012=)
n.3185A=
c.3031A= (p.Thr1011=)
c.3205A= (p.Thr1069=)
7g.41965866G>ACA454661778GLI3c.3207C>T (p.Ile1069=)
c.3033C>T (p.Ile1011=)
n.3184C>T
c.3030C>T (p.Ile1010=)
c.3204C>T (p.Ile1068=)
7g.41965866G>CCA367318940GLI3c.3207C>G (p.Ile1069Met)
c.3033C>G (p.Ile1011Met)
n.3184C>G
c.3030C>G (p.Ile1010Met)
c.3204C>G (p.Ile1068Met)
7g.41965866G>TCA454661779GLI3c.3207C>A (p.Ile1069=)
c.3033C>A (p.Ile1011=)
n.3184C>A
c.3030C>A (p.Ile1010=)
c.3204C>A (p.Ile1068=)
 COSMIC
7g.41965867A>CCA367318941GLI3c.3206T>G (p.Ile1069Ser)
c.3032T>G (p.Ile1011Ser)
n.3183T>G
c.3029T>G (p.Ile1010Ser)
c.3203T>G (p.Ile1068Ser)
7g.41965867A>GCA367318942GLI3c.3206T>C (p.Ile1069Thr)
c.3032T>C (p.Ile1011Thr)
n.3183T>C
c.3029T>C (p.Ile1010Thr)
c.3203T>C (p.Ile1068Thr)
 gnomAD v4
7g.41965867A>TCA367318943GLI3c.3206T>A (p.Ile1069Asn)
c.3032T>A (p.Ile1011Asn)
n.3183T>A
c.3029T>A (p.Ile1010Asn)
c.3203T>A (p.Ile1068Asn)
7g.41965868T>ACA367318944GLI3c.3205A>T (p.Ile1069Phe)
c.3031A>T (p.Ile1011Phe)
n.3182A>T
c.3028A>T (p.Ile1010Phe)
c.3202A>T (p.Ile1068Phe)
7g.41965868T>CCA367318945GLI3c.3205A>G (p.Ile1069Val)
c.3031A>G (p.Ile1011Val)
n.3182A>G
c.3028A>G (p.Ile1010Val)
c.3202A>G (p.Ile1068Val)
 gnomAD v4
7g.41965868T>GCA367318946GLI3c.3205A>C (p.Ile1069Leu)
c.3031A>C (p.Ile1011Leu)
n.3182A>C
c.3028A>C (p.Ile1010Leu)
c.3202A>C (p.Ile1068Leu)
7g.41965869G>ACA454661780GLI3c.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
7g.41965869G>CCA367318947GLI3c.3204C>G (p.Ser1068Arg)
c.3030C>G (p.Ser1010Arg)
n.3181C>G
c.3027C>G (p.Ser1009Arg)
c.3201C>G (p.Ser1067Arg)
7g.41965869G=CA1702660976GLI3c.3204C= (p.Ser1068=)
c.3030C= (p.Ser1010=)
n.3181C=
c.3027C= (p.Ser1009=)
c.3201C= (p.Ser1067=)
7g.41965869G>TCA367318948GLI3c.3204C>A (p.Ser1068Arg)
c.3030C>A (p.Ser1010Arg)
n.3181C>A
c.3027C>A (p.Ser1009Arg)
c.3201C>A (p.Ser1067Arg)
7g.41965870C>ACA367318949GLI3c.3203G>T (p.Ser1068Ile)
c.3029G>T (p.Ser1010Ile)
n.3180G>T
c.3026G>T (p.Ser1009Ile)
c.3200G>T (p.Ser1067Ile)
7g.41965870C=CA1702660977GLI3c.3203G= (p.Ser1068=)
c.3029G= (p.Ser1010=)
n.3180G=
c.3026G= (p.Ser1009=)
c.3200G= (p.Ser1067=)
7g.41965870C>GCA4230420GLI3c.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
7g.41965870C>TCA367318950GLI3c.3203G>A (p.Ser1068Asn)
c.3029G>A (p.Ser1010Asn)
n.3180G>A
c.3026G>A (p.Ser1009Asn)
c.3200G>A (p.Ser1067Asn)
7g.41965871T>ACA367318953GLI3c.3202A>T (p.Ser1068Cys)
c.3028A>T (p.Ser1010Cys)
n.3179A>T
c.3025A>T (p.Ser1009Cys)
c.3199A>T (p.Ser1067Cys)
7g.41965871T>CCA367318951GLI3c.3202A>G (p.Ser1068Gly)
c.3028A>G (p.Ser1010Gly)
n.3179A>G
c.3025A>G (p.Ser1009Gly)
c.3199A>G (p.Ser1067Gly)
7g.41965871T>GCA367318952GLI3c.3202A>C (p.Ser1068Arg)
c.3028A>C (p.Ser1010Arg)
n.3179A>C
c.3025A>C (p.Ser1009Arg)
c.3199A>C (p.Ser1067Arg)
7g.41965872G>ACA454661781GLI3c.3201C>T (p.Pro1067=)
c.3027C>T (p.Pro1009=)
n.3178C>T
c.3024C>T (p.Pro1008=)
c.3198C>T (p.Pro1066=)
7g.41965872G>CCA454661782GLI3c.3201C>G (p.Pro1067=)
c.3027C>G (p.Pro1009=)
n.3178C>G
c.3024C>G (p.Pro1008=)
c.3198C>G (p.Pro1066=)
7g.41965872G>TCA454661783GLI3c.3201C>A (p.Pro1067=)
c.3027C>A (p.Pro1009=)
n.3178C>A
c.3024C>A (p.Pro1008=)
c.3198C>A (p.Pro1066=)
7g.41965873G>ACA367318954GLI3c.3200C>T (p.Pro1067Leu)
c.3026C>T (p.Pro1009Leu)
n.3177C>T
c.3023C>T (p.Pro1008Leu)
c.3197C>T (p.Pro1066Leu)
7g.41965873G>CCA367318955GLI3c.3200C>G (p.Pro1067Arg)
c.3026C>G (p.Pro1009Arg)
n.3177C>G
c.3023C>G (p.Pro1008Arg)
c.3197C>G (p.Pro1066Arg)
7g.41965873G>TCA367318956GLI3c.3200C>A (p.Pro1067His)
c.3026C>A (p.Pro1009His)
n.3177C>A
c.3023C>A (p.Pro1008His)
c.3197C>A (p.Pro1066His)
7g.41965874G>ACA367318957GLI3c.3199C>T (p.Pro1067Ser)
c.3025C>T (p.Pro1009Ser)
n.3176C>T
c.3022C>T (p.Pro1008Ser)
c.3196C>T (p.Pro1066Ser)
7g.41965874G>CCA367318958GLI3c.3199C>G (p.Pro1067Ala)
c.3025C>G (p.Pro1009Ala)
n.3176C>G
c.3022C>G (p.Pro1008Ala)
c.3196C>G (p.Pro1066Ala)
7g.41965874G>TCA367318959GLI3c.3199C>A (p.Pro1067Thr)
c.3025C>A (p.Pro1009Thr)
n.3176C>A
c.3022C>A (p.Pro1008Thr)
c.3196C>A (p.Pro1066Thr)
7g.41965875A>CCA454661784GLI3c.3198T>G (p.Pro1066=)
c.3024T>G (p.Pro1008=)
n.3175T>G
c.3021T>G (p.Pro1007=)
c.3195T>G (p.Pro1065=)
7g.41965875A>GCA454661785GLI3c.3198T>C (p.Pro1066=)
c.3024T>C (p.Pro1008=)
n.3175T>C
c.3021T>C (p.Pro1007=)
c.3195T>C (p.Pro1065=)
7g.41965875A>TCA454661786GLI3c.3198T>A (p.Pro1066=)
c.3024T>A (p.Pro1008=)
n.3175T>A
c.3021T>A (p.Pro1007=)
c.3195T>A (p.Pro1065=)
7g.41965876G>ACA367318960GLI3c.3197C>T (p.Pro1066Leu)
c.3023C>T (p.Pro1008Leu)
n.3174C>T
c.3020C>T (p.Pro1007Leu)
c.3194C>T (p.Pro1065Leu)
7g.41965876G>CCA367318961GLI3c.3197C>G (p.Pro1066Arg)
c.3023C>G (p.Pro1008Arg)
n.3174C>G
c.3020C>G (p.Pro1007Arg)
c.3194C>G (p.Pro1065Arg)
7g.41965876G>TCA367318962GLI3c.3197C>A (p.Pro1066His)
c.3023C>A (p.Pro1008His)
n.3174C>A
c.3020C>A (p.Pro1007His)
c.3194C>A (p.Pro1065His)
7g.41965877G>ACA367318963GLI3c.3196C>T (p.Pro1066Ser)
c.3022C>T (p.Pro1008Ser)
n.3173C>T
c.3019C>T (p.Pro1007Ser)
c.3193C>T (p.Pro1065Ser)
7g.41965877G>CCA367318964GLI3c.3196C>G (p.Pro1066Ala)
c.3022C>G (p.Pro1008Ala)
n.3173C>G
c.3019C>G (p.Pro1007Ala)
c.3193C>G (p.Pro1065Ala)
7g.41965877G>TCA367318965GLI3c.3196C>A (p.Pro1066Thr)
c.3022C>A (p.Pro1008Thr)
n.3173C>A
c.3019C>A (p.Pro1007Thr)
c.3193C>A (p.Pro1065Thr)
7g.41965878A>CCA367318966GLI3c.3195T>G (p.Cys1065Trp)
c.3021T>G (p.Cys1007Trp)
n.3172T>G
c.3018T>G (p.Cys1006Trp)
c.3192T>G (p.Cys1064Trp)
7g.41965878A>GCA454661787GLI3c.3195T>C (p.Cys1065=)
c.3021T>C (p.Cys1007=)
n.3172T>C
c.3018T>C (p.Cys1006=)
c.3192T>C (p.Cys1064=)
7g.41965878A>TCA367318967GLI3c.3195T>A (p.Cys1065Ter)
c.3021T>A (p.Cys1007Ter)
n.3172T>A
c.3018T>A (p.Cys1006Ter)
c.3192T>A (p.Cys1064Ter)
7g.41965879C>ACA367318968GLI3c.3194G>T (p.Cys1065Phe)
c.3020G>T (p.Cys1007Phe)
n.3171G>T
c.3017G>T (p.Cys1006Phe)
c.3191G>T (p.Cys1064Phe)
7g.41965879C=CA1702660978GLI3c.3194G= (p.Cys1065=)
c.3020G= (p.Cys1007=)
n.3171G=
c.3017G= (p.Cys1006=)
c.3191G= (p.Cys1064=)
7g.41965879C>GCA367318969GLI3c.3194G>C (p.Cys1065Ser)
c.3020G>C (p.Cys1007Ser)
n.3171G>C
c.3017G>C (p.Cys1006Ser)
c.3191G>C (p.Cys1064Ser)
7g.41965879C>TCA4230421GLI3c.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
7g.41965880A>CCA367318970GLI3c.3193T>G (p.Cys1065Gly)
c.3019T>G (p.Cys1007Gly)
n.3170T>G
c.3016T>G (p.Cys1006Gly)
c.3190T>G (p.Cys1064Gly)
7g.41965880A>GCA367318971GLI3c.3193T>C (p.Cys1065Arg)
c.3019T>C (p.Cys1007Arg)
n.3170T>C
c.3016T>C (p.Cys1006Arg)
c.3190T>C (p.Cys1064Arg)
7g.41965880A>TCA367318972GLI3c.3193T>A (p.Cys1065Ser)
c.3019T>A (p.Cys1007Ser)
n.3170T>A
c.3016T>A (p.Cys1006Ser)
c.3190T>A (p.Cys1064Ser)
7g.41965881G>ACA4230422GLI3c.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
7g.41965881G>CCA454661788GLI3c.3192C>G (p.Pro1064=)
c.3018C>G (p.Pro1006=)
n.3169C>G
c.3015C>G (p.Pro1005=)
c.3189C>G (p.Pro1063=)
7g.41965881G=CA1702660979GLI3c.3192C= (p.Pro1064=)
c.3018C= (p.Pro1006=)
n.3169C=
c.3015C= (p.Pro1005=)
c.3189C= (p.Pro1063=)
7g.41965881G>TCA454661789GLI3c.3192C>A (p.Pro1064=)
c.3018C>A (p.Pro1006=)
n.3169C>A
c.3015C>A (p.Pro1005=)
c.3189C>A (p.Pro1063=)
7g.41965885delCA454661790GLI3c.3192del (p.Cys1065ValfsTer14)
c.3018del (p.Cys1007ValfsTer14)
n.3169del
c.3015del (p.Cys1006ValfsTer14)
c.3189del (p.Cys1064ValfsTer14)
 COSMIC
7g.41965882G>ACA367318973GLI3c.3191C>T (p.Pro1064Leu)
c.3017C>T (p.Pro1006Leu)
n.3168C>T
c.3014C>T (p.Pro1005Leu)
c.3188C>T (p.Pro1063Leu)
 gnomAD v4
7g.41965882G>CCA367318974GLI3c.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
7g.41965882G=CA1702660980GLI3c.3191C= (p.Pro1064=)
c.3017C= (p.Pro1006=)
n.3168C=
c.3014C= (p.Pro1005=)
c.3188C= (p.Pro1063=)
7g.41965882G>TCA367318975GLI3c.3191C>A (p.Pro1064His)
c.3017C>A (p.Pro1006His)
n.3168C>A
c.3014C>A (p.Pro1005His)
c.3188C>A (p.Pro1063His)
7g.41965883G>ACA4230423GLI3c.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
7g.41965883G>CCA367318976GLI3c.3190C>G (p.Pro1064Ala)
c.3016C>G (p.Pro1006Ala)
n.3167C>G
c.3013C>G (p.Pro1005Ala)
c.3187C>G (p.Pro1063Ala)
 gnomAD v4
7g.41965883G=CA1702660981GLI3c.3190C= (p.Pro1064=)
c.3016C= (p.Pro1006=)
n.3167C=
c.3013C= (p.Pro1005=)
c.3187C= (p.Pro1063=)
7g.41965883G>TCA367318977GLI3c.3190C>A (p.Pro1064Thr)
c.3016C>A (p.Pro1006Thr)
n.3167C>A
c.3013C>A (p.Pro1005Thr)
c.3187C>A (p.Pro1063Thr)
7g.41965884G>ACA454661791GLI3c.3189C>T (p.Ser1063=)
c.3015C>T (p.Ser1005=)
n.3166C>T
c.3012C>T (p.Ser1004=)
c.3186C>T (p.Ser1062=)
7g.41965884G>CCA454661793GLI3c.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
7g.41965884G=CA1702660982GLI3c.3189C= (p.Ser1063=)
c.3015C= (p.Ser1005=)
n.3166C=
c.3012C= (p.Ser1004=)
c.3186C= (p.Ser1062=)
7g.41965884G>TCA454661792GLI3c.3189C>A (p.Ser1063=)
c.3015C>A (p.Ser1005=)
n.3166C>A
c.3012C>A (p.Ser1004=)
c.3186C>A (p.Ser1062=)
7g.41965885G>ACA367318980GLI3c.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
7g.41965885G>CCA367318978GLI3c.3188C>G (p.Ser1063Cys)
c.3014C>G (p.Ser1005Cys)
n.3165C>G
c.3011C>G (p.Ser1004Cys)
c.3185C>G (p.Ser1062Cys)
7g.41965885G=CA1702660983GLI3c.3188C= (p.Ser1063=)
c.3014C= (p.Ser1005=)
n.3165C=
c.3011C= (p.Ser1004=)
c.3185C= (p.Ser1062=)
7g.41965885G>TCA367318979GLI3c.3188C>A (p.Ser1063Tyr)
c.3014C>A (p.Ser1005Tyr)
n.3165C>A
c.3011C>A (p.Ser1004Tyr)
c.3185C>A (p.Ser1062Tyr)
7g.41965886A>CCA367318981GLI3c.3187T>G (p.Ser1063Ala)
c.3013T>G (p.Ser1005Ala)
n.3164T>G
c.3010T>G (p.Ser1004Ala)
c.3184T>G (p.Ser1062Ala)
 gnomAD v4
7g.41965886A>GCA367318982GLI3c.3187T>C (p.Ser1063Pro)
c.3013T>C (p.Ser1005Pro)
n.3164T>C
c.3010T>C (p.Ser1004Pro)
c.3184T>C (p.Ser1062Pro)
7g.41965886A>TCA367318983GLI3c.3187T>A (p.Ser1063Thr)
c.3013T>A (p.Ser1005Thr)
n.3164T>A
c.3010T>A (p.Ser1004Thr)
c.3184T>A (p.Ser1062Thr)
7g.41965887C>ACA156904490GLI3c.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
7g.41965887C=CA1702660984GLI3c.3186G= (p.Ser1062=)
c.3012G= (p.Ser1004=)
n.3163G=
c.3009G= (p.Ser1003=)
c.3183G= (p.Ser1061=)
7g.41965887C>GCA454661794GLI3c.3186G>C (p.Ser1062=)
c.3012G>C (p.Ser1004=)
n.3163G>C
c.3009G>C (p.Ser1003=)
c.3183G>C (p.Ser1061=)
7g.41965887C>TCA4230424GLI3c.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
7g.41965888G>ACA156904501GLI3c.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
7g.41965888G>CCA367318984GLI3c.3185C>G (p.Ser1062Trp)
c.3011C>G (p.Ser1004Trp)
n.3162C>G
c.3008C>G (p.Ser1003Trp)
c.3182C>G (p.Ser1061Trp)
 dbSNP
7g.41965888G=CA1702660985GLI3c.3185C= (p.Ser1062=)
c.3011C= (p.Ser1004=)
n.3162C=
c.3008C= (p.Ser1003=)
c.3182C= (p.Ser1061=)
7g.41965888G>TCA367318985GLI3c.3185C>A (p.Ser1062Ter)
c.3011C>A (p.Ser1004Ter)
n.3162C>A
c.3008C>A (p.Ser1003Ter)
c.3182C>A (p.Ser1061Ter)
7g.41965889A>CCA367318986GLI3c.3184T>G (p.Ser1062Ala)
c.3010T>G (p.Ser1004Ala)
n.3161T>G
c.3007T>G (p.Ser1003Ala)
c.3181T>G (p.Ser1061Ala)
7g.41965889A>GCA367318987GLI3c.3184T>C (p.Ser1062Pro)
c.3010T>C (p.Ser1004Pro)
n.3161T>C
c.3007T>C (p.Ser1003Pro)
c.3181T>C (p.Ser1061Pro)
7g.41965889A>TCA367318988GLI3c.3184T>A (p.Ser1062Thr)
c.3010T>A (p.Ser1004Thr)
n.3161T>A
c.3007T>A (p.Ser1003Thr)
c.3181T>A (p.Ser1061Thr)
7g.41965890G>ACA454661795GLI3c.3183C>T (p.His1061=)
c.3009C>T (p.His1003=)
n.3160C>T
c.3006C>T (p.His1002=)
c.3180C>T (p.His1060=)
 COSMIC
7g.41965890G>CCA4230425GLI3c.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
7g.41965890G=CA1702660986GLI3c.3183C= (p.His1061=)
c.3009C= (p.His1003=)
n.3160C=
c.3006C= (p.His1002=)
c.3180C= (p.His1060=)
7g.41965890G>TCA367318989GLI3c.3183C>A (p.His1061Gln)
c.3009C>A (p.His1003Gln)
n.3160C>A
c.3006C>A (p.His1002Gln)
c.3180C>A (p.His1060Gln)
7g.41965891T>ACA367318992GLI3c.3182A>T (p.His1061Leu)
c.3008A>T (p.His1003Leu)
n.3159A>T
c.3005A>T (p.His1002Leu)
c.3179A>T (p.His1060Leu)
7g.41965891T>CCA367318991GLI3c.3182A>G (p.His1061Arg)
c.3008A>G (p.His1003Arg)
n.3159A>G
c.3005A>G (p.His1002Arg)
c.3179A>G (p.His1060Arg)
7g.41965891T>GCA367318990GLI3c.3182A>C (p.His1061Pro)
c.3008A>C (p.His1003Pro)
n.3159A>C
c.3005A>C (p.His1002Pro)
c.3179A>C (p.His1060Pro)
7g.41965892G>ACA367318993GLI3c.3181C>T (p.His1061Tyr)
c.3007C>T (p.His1003Tyr)
n.3158C>T
c.3004C>T (p.His1002Tyr)
c.3178C>T (p.His1060Tyr)
 COSMIC
7g.41965892G>CCA367318995GLI3c.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
7g.41965892G=CA1702660987GLI3c.3181C= (p.His1061=)
c.3007C= (p.His1003=)
n.3158C=
c.3004C= (p.His1002=)
c.3178C= (p.His1060=)
7g.41965892G>TCA367318994GLI3c.3181C>A (p.His1061Asn)
c.3007C>A (p.His1003Asn)
n.3158C>A
c.3004C>A (p.His1002Asn)
c.3178C>A (p.His1060Asn)
7g.41965893G>ACA454661796GLI3c.3180C>T (p.Phe1060=)
c.3006C>T (p.Phe1002=)
n.3157C>T
c.3003C>T (p.Phe1001=)
c.3177C>T (p.Phe1059=)
 gnomAD v4
7g.41965893G>CCA367318996GLI3c.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
7g.41965893G=CA1702660988GLI3c.3180C= (p.Phe1060=)
c.3006C= (p.Phe1002=)
n.3157C=
c.3003C= (p.Phe1001=)
c.3177C= (p.Phe1059=)
7g.41965893G>TCA367318997GLI3c.3180C>A (p.Phe1060Leu)
c.3006C>A (p.Phe1002Leu)
n.3157C>A
c.3003C>A (p.Phe1001Leu)
c.3177C>A (p.Phe1059Leu)
7g.41965894A=CA1702660989GLI3c.3179T= (p.Phe1060=)
c.3005T= (p.Phe1002=)
n.3156T=
c.3002T= (p.Phe1001=)
c.3176T= (p.Phe1059=)
7g.41965894A>CCA367318998GLI3c.3179T>G (p.Phe1060Cys)
c.3005T>G (p.Phe1002Cys)
n.3156T>G
c.3002T>G (p.Phe1001Cys)
c.3176T>G (p.Phe1059Cys)
7g.41965894A>GCA367318999GLI3c.3179T>C (p.Phe1060Ser)
c.3005T>C (p.Phe1002Ser)
n.3156T>C
c.3002T>C (p.Phe1001Ser)
c.3176T>C (p.Phe1059Ser)
 gnomAD v4
7g.41965894A>TCA4230426GLI3c.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
7g.41965895A>CCA367319000GLI3c.3178T>G (p.Phe1060Val)
c.3004T>G (p.Phe1002Val)
n.3155T>G
c.3001T>G (p.Phe1001Val)
c.3175T>G (p.Phe1059Val)
7g.41965895A>GCA367319001GLI3c.3178T>C (p.Phe1060Leu)
c.3004T>C (p.Phe1002Leu)
n.3155T>C
c.3001T>C (p.Phe1001Leu)
c.3175T>C (p.Phe1059Leu)
7g.41965895A>TCA367319002GLI3c.3178T>A (p.Phe1060Ile)
c.3004T>A (p.Phe1002Ile)
n.3155T>A
c.3001T>A (p.Phe1001Ile)
c.3175T>A (p.Phe1059Ile)
7g.41965896G>ACA454661797GLI3c.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
7g.41965896G>CCA367319003GLI3c.3177C>G (p.Asn1059Lys)
c.3003C>G (p.Asn1001Lys)
n.3154C>G
c.3000C>G (p.Asn1000Lys)
c.3174C>G (p.Asn1058Lys)
 gnomAD v4
7g.41965896G=CA1702660990GLI3c.3177C= (p.Asn1059=)
c.3003C= (p.Asn1001=)
n.3154C=
c.3000C= (p.Asn1000=)
c.3174C= (p.Asn1058=)
7g.41965896G>TCA367319004GLI3c.3177C>A (p.Asn1059Lys)
c.3003C>A (p.Asn1001Lys)
n.3154C>A
c.3000C>A (p.Asn1000Lys)
c.3174C>A (p.Asn1058Lys)
7g.41965897T>ACA367319005GLI3c.3176A>T (p.Asn1059Ile)
c.3002A>T (p.Asn1001Ile)
n.3153A>T
c.2999A>T (p.Asn1000Ile)
c.3173A>T (p.Asn1058Ile)
7g.41965897T>CCA367319006GLI3c.3176A>G (p.Asn1059Ser)
c.3002A>G (p.Asn1001Ser)
n.3153A>G
c.2999A>G (p.Asn1000Ser)
c.3173A>G (p.Asn1058Ser)
7g.41965897T>GCA367319007GLI3c.3176A>C (p.Asn1059Thr)
c.3002A>C (p.Asn1001Thr)
n.3153A>C
c.2999A>C (p.Asn1000Thr)
c.3173A>C (p.Asn1058Thr)
 gnomAD v4
7g.41965898T>ACA367319010GLI3c.3175A>T (p.Asn1059Tyr)
c.3001A>T (p.Asn1001Tyr)
n.3152A>T
c.2998A>T (p.Asn1000Tyr)
c.3172A>T (p.Asn1058Tyr)
7g.41965898T>CCA367319009GLI3c.3175A>G (p.Asn1059Asp)
c.3001A>G (p.Asn1001Asp)
n.3152A>G
c.2998A>G (p.Asn1000Asp)
c.3172A>G (p.Asn1058Asp)
7g.41965898T>GCA367319008GLI3c.3175A>C (p.Asn1059His)
c.3001A>C (p.Asn1001His)
n.3152A>C
c.2998A>C (p.Asn1000His)
c.3172A>C (p.Asn1058His)
7g.41965899T>ACA454661798GLI3c.3174A>T (p.Arg1058=)
c.3000A>T (p.Arg1000=)
n.3151A>T
c.2997A>T (p.Arg999=)
c.3171A>T (p.Arg1057=)
7g.41965899T>CCA454661800GLI3c.3174A>G (p.Arg1058=)
c.3000A>G (p.Arg1000=)
n.3151A>G
c.2997A>G (p.Arg999=)
c.3171A>G (p.Arg1057=)
7g.41965899T>GCA454661799GLI3c.3174A>C (p.Arg1058=)
c.3000A>C (p.Arg1000=)
n.3151A>C
c.2997A>C (p.Arg999=)
c.3171A>C (p.Arg1057=)
7g.41965900C>ACA367319011GLI3c.3173G>T (p.Arg1058Leu)
c.2999G>T (p.Arg1000Leu)
n.3150G>T
c.2996G>T (p.Arg999Leu)
c.3170G>T (p.Arg1057Leu)
 COSMIC
7g.41965900C=CA1702660991GLI3c.3173G= (p.Arg1058=)
c.2999G= (p.Arg1000=)
n.3150G=
c.2996G= (p.Arg999=)
c.3170G= (p.Arg1057=)
7g.41965900C>GCA367319012GLI3c.3173G>C (p.Arg1058Pro)
c.2999G>C (p.Arg1000Pro)
n.3150G>C
c.2996G>C (p.Arg999Pro)
c.3170G>C (p.Arg1057Pro)
 gnomAD v4
7g.41965900C>TCA4230427GLI3c.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
7g.41965901G>ACA367319013GLI3c.3172C>T (p.Arg1058Ter)
c.2998C>T (p.Arg1000Ter)
n.3149C>T
c.2995C>T (p.Arg999Ter)
c.3169C>T (p.Arg1057Ter)
7g.41965901G>CCA367319014GLI3c.3172C>G (p.Arg1058Gly)
c.2998C>G (p.Arg1000Gly)
n.3149C>G
c.2995C>G (p.Arg999Gly)
c.3169C>G (p.Arg1057Gly)
 gnomAD v4
7g.41965901G>TCA454661801GLI3c.3172C>A (p.Arg1058=)
c.2998C>A (p.Arg1000=)
n.3149C>A
c.2995C>A (p.Arg999=)
c.3169C>A (p.Arg1057=)
 COSMIC
7g.41965902G>ACA454661802GLI3c.3171C>T (p.Ser1057=)
c.2997C>T (p.Ser999=)
n.3148C>T
c.2994C>T (p.Ser998=)
c.3168C>T (p.Ser1056=)
7g.41965902G>CCA454661803GLI3c.3171C>G (p.Ser1057=)
c.2997C>G (p.Ser999=)
n.3148C>G
c.2994C>G (p.Ser998=)
c.3168C>G (p.Ser1056=)
7g.41965902G>TCA454661804GLI3c.3171C>A (p.Ser1057=)
c.2997C>A (p.Ser999=)
n.3148C>A
c.2994C>A (p.Ser998=)
c.3168C>A (p.Ser1056=)
7g.41965903G>ACA367319015GLI3c.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
7g.41965903G>CCA367319016GLI3c.3170C>G (p.Ser1057Cys)
c.2996C>G (p.Ser999Cys)
n.3147C>G
c.2993C>G (p.Ser998Cys)
c.3167C>G (p.Ser1056Cys)
 COSMIC
7g.41965903G>TCA367319017GLI3c.3170C>A (p.Ser1057Tyr)
c.2996C>A (p.Ser999Tyr)
n.3147C>A
c.2993C>A (p.Ser998Tyr)
c.3167C>A (p.Ser1056Tyr)
7g.41965904A>CCA367319018GLI3c.3169T>G (p.Ser1057Ala)
c.2995T>G (p.Ser999Ala)
n.3146T>G
c.2992T>G (p.Ser998Ala)
c.3166T>G (p.Ser1056Ala)
7g.41965904A>GCA367319019GLI3c.3169T>C (p.Ser1057Pro)
c.2995T>C (p.Ser999Pro)
n.3146T>C
c.2992T>C (p.Ser998Pro)
c.3166T>C (p.Ser1056Pro)
 gnomAD v4
7g.41965904A>TCA367319020GLI3c.3169T>A (p.Ser1057Thr)
c.2995T>A (p.Ser999Thr)
n.3146T>A
c.2992T>A (p.Ser998Thr)
c.3166T>A (p.Ser1056Thr)
7g.41965905C>ACA367319021GLI3c.3168G>T (p.Gln1056His)
c.2994G>T (p.Gln998His)
n.3145G>T
c.2991G>T (p.Gln997His)
c.3165G>T (p.Gln1055His)
7g.41965905C>GCA367319022GLI3c.3168G>C (p.Gln1056His)
c.2994G>C (p.Gln998His)
n.3145G>C
c.2991G>C (p.Gln997His)
c.3165G>C (p.Gln1055His)
7g.41965905C>TCA454661805GLI3c.3168G>A (p.Gln1056=)
c.2994G>A (p.Gln998=)
n.3145G>A
c.2991G>A (p.Gln997=)
c.3165G>A (p.Gln1055=)
7g.41965906T>ACA367319024GLI3c.3167A>T (p.Gln1056Leu)
c.2993A>T (p.Gln998Leu)
n.3144A>T
c.2990A>T (p.Gln997Leu)
c.3164A>T (p.Gln1055Leu)
7g.41965906T>CCA367319023GLI3c.3167A>G (p.Gln1056Arg)
c.2993A>G (p.Gln998Arg)
n.3144A>G
c.2990A>G (p.Gln997Arg)
c.3164A>G (p.Gln1055Arg)
 gnomAD v4
7g.41965906T>GCA4230428GLI3c.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
7g.41965906T=CA1702660992GLI3c.3167A= (p.Gln1056=)
c.2993A= (p.Gln998=)
n.3144A=
c.2990A= (p.Gln997=)
c.3164A= (p.Gln1055=)
7g.41965907G>ACA367319026GLI3c.3166C>T (p.Gln1056Ter)
c.2992C>T (p.Gln998Ter)
n.3143C>T
c.2989C>T (p.Gln997Ter)
c.3163C>T (p.Gln1055Ter)
7g.41965907G>CCA367319025GLI3c.3166C>G (p.Gln1056Glu)
c.2992C>G (p.Gln998Glu)
n.3143C>G
c.2989C>G (p.Gln997Glu)
c.3163C>G (p.Gln1055Glu)
7g.41965907G=CA1702660993GLI3c.3166C= (p.Gln1056=)
c.2992C= (p.Gln998=)
n.3143C=
c.2989C= (p.Gln997=)
c.3163C= (p.Gln1055=)
7g.41965907G>TCA156904524GLI3c.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
7g.41965908G>ACA4230429GLI3c.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
7g.41965908G>CCA454661806GLI3c.3165C>G (p.Gly1055=)
c.2991C>G (p.Gly997=)
n.3142C>G
c.2988C>G (p.Gly996=)
c.3162C>G (p.Gly1054=)
7g.41965908G=CA1702660994GLI3c.3165C= (p.Gly1055=)
c.2991C= (p.Gly997=)
n.3142C=
c.2988C= (p.Gly996=)
c.3162C= (p.Gly1054=)
7g.41965908G>TCA454661807GLI3c.3165C>A (p.Gly1055=)
c.2991C>A (p.Gly997=)
n.3142C>A
c.2988C>A (p.Gly996=)
c.3162C>A (p.Gly1054=)
7g.41965909C>ACA367319027GLI3c.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
7g.41965909C>GCA367319028GLI3c.3164G>C (p.Gly1055Ala)
c.2990G>C (p.Gly997Ala)
n.3141G>C
c.2987G>C (p.Gly996Ala)
c.3161G>C (p.Gly1054Ala)
7g.41965909C>TCA367319029GLI3c.3164G>A (p.Gly1055Asp)
c.2990G>A (p.Gly997Asp)
n.3141G>A
c.2987G>A (p.Gly996Asp)
c.3161G>A (p.Gly1054Asp)
 gnomAD v4
7g.41965910C>ACA367319030GLI3c.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
7g.41965910C=CA1702660995GLI3c.3163G= (p.Gly1055=)
c.2989G= (p.Gly997=)
n.3140G=
c.2986G= (p.Gly996=)
c.3160G= (p.Gly1054=)
7g.41965910C>GCA367319031GLI3c.3163G>C (p.Gly1055Arg)
c.2989G>C (p.Gly997Arg)
n.3140G>C
c.2986G>C (p.Gly996Arg)
c.3160G>C (p.Gly1054Arg)
 gnomAD v4
7g.41965910C>TCA367319032GLI3c.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
7g.41965911G>ACA4230430GLI3c.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
7g.41965911G>CCA454661808GLI3c.3162C>G (p.Gly1054=)
c.2988C>G (p.Gly996=)
n.3139C>G
c.2985C>G (p.Gly995=)
c.3159C>G (p.Gly1053=)
7g.41965911G=CA1702660996GLI3c.3162C= (p.Gly1054=)
c.2988C= (p.Gly996=)
n.3139C=
c.2985C= (p.Gly995=)
c.3159C= (p.Gly1053=)
7g.41965911G>TCA454661809GLI3c.3162C>A (p.Gly1054=)
c.2988C>A (p.Gly996=)
n.3139C>A
c.2985C>A (p.Gly995=)
c.3159C>A (p.Gly1053=)
 dbSNP
7g.41965912C>ACA367319033GLI3c.3161G>T (p.Gly1054Val)
c.2987G>T (p.Gly996Val)
n.3138G>T
c.2984G>T (p.Gly995Val)
c.3158G>T (p.Gly1053Val)
7g.41965912C>GCA367319034GLI3c.3161G>C (p.Gly1054Ala)
c.2987G>C (p.Gly996Ala)
n.3138G>C
c.2984G>C (p.Gly995Ala)
c.3158G>C (p.Gly1053Ala)
7g.41965912C>TCA367319035GLI3c.3161G>A (p.Gly1054Asp)
c.2987G>A (p.Gly996Asp)
n.3138G>A
c.2984G>A (p.Gly995Asp)
c.3158G>A (p.Gly1053Asp)
7g.41965913C>ACA367319037GLI3c.3160G>T (p.Gly1054Cys)
c.2986G>T (p.Gly996Cys)
n.3137G>T
c.2983G>T (p.Gly995Cys)
c.3157G>T (p.Gly1053Cys)
7g.41965913C=CA1702660997GLI3c.3160G= (p.Gly1054=)
c.2986G= (p.Gly996=)
n.3137G=
c.2983G= (p.Gly995=)
c.3157G= (p.Gly1053=)
7g.41965913C>GCA367319036GLI3c.3160G>C (p.Gly1054Arg)
c.2986G>C (p.Gly996Arg)
n.3137G>C
c.2983G>C (p.Gly995Arg)
c.3157G>C (p.Gly1053Arg)
7g.41965913C>TCA4230431GLI3c.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
7g.41965914C>ACA367319038GLI3c.3159G>T (p.Glu1053Asp)
c.2985G>T (p.Glu995Asp)
n.3136G>T
c.2982G>T (p.Glu994Asp)
c.3156G>T (p.Glu1052Asp)
7g.41965914C=CA1702660998GLI3c.3159G= (p.Glu1053=)
c.2985G= (p.Glu995=)
n.3136G=
c.2982G= (p.Glu994=)
c.3156G= (p.Glu1052=)
7g.41965914C>GCA367319039GLI3c.3159G>C (p.Glu1053Asp)
c.2985G>C (p.Glu995Asp)
n.3136G>C
c.2982G>C (p.Glu994Asp)
c.3156G>C (p.Glu1052Asp)
 dbSNP
7g.41965914C>TCA454661810GLI3c.3159G>A (p.Glu1053=)
c.2985G>A (p.Glu995=)
n.3136G>A
c.2982G>A (p.Glu994=)
c.3156G>A (p.Glu1052=)
7g.41965915T>ACA367319040GLI3c.3158A>T (p.Glu1053Val)
c.2984A>T (p.Glu995Val)
n.3135A>T
c.2981A>T (p.Glu994Val)
c.3155A>T (p.Glu1052Val)
7g.41965915T>CCA367319041GLI3c.3158A>G (p.Glu1053Gly)
c.2984A>G (p.Glu995Gly)
n.3135A>G
c.2981A>G (p.Glu994Gly)
c.3155A>G (p.Glu1052Gly)
 gnomAD v4
7g.41965915T>GCA367319042GLI3c.3158A>C (p.Glu1053Ala)
c.2984A>C (p.Glu995Ala)
n.3135A>C
c.2981A>C (p.Glu994Ala)
c.3155A>C (p.Glu1052Ala)
 gnomAD v4
7g.41965916C>ACA367319043GLI3c.3157G>T (p.Glu1053Ter)
c.2983G>T (p.Glu995Ter)
n.3134G>T
c.2980G>T (p.Glu994Ter)
c.3154G>T (p.Glu1052Ter)
7g.41965916C=CA1702660999GLI3c.3157G= (p.Glu1053=)
c.2983G= (p.Glu995=)
n.3134G=
c.2980G= (p.Glu994=)
c.3154G= (p.Glu1052=)
7g.41965916C>GCA367319044GLI3c.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
7g.41965916C>TCA367319045GLI3c.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
7g.41965917G>ACA4230432GLI3c.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
7g.41965917G>CCA454661811GLI3c.3156C>G (p.Pro1052=)
c.2982C>G (p.Pro994=)
n.3133C>G
c.2979C>G (p.Pro993=)
c.3153C>G (p.Pro1051=)
 gnomAD v4
7g.41965917G=CA1702661000GLI3c.3156C= (p.Pro1052=)
c.2982C= (p.Pro994=)
n.3133C=
c.2979C= (p.Pro993=)
c.3153C= (p.Pro1051=)
7g.41965917G>TCA454661812GLI3c.3156C>A (p.Pro1052=)
c.2982C>A (p.Pro994=)
n.3133C>A
c.2979C>A (p.Pro993=)
c.3153C>A (p.Pro1051=)
7g.41965918G>ACA367319046GLI3c.3155C>T (p.Pro1052Leu)
c.2981C>T (p.Pro994Leu)
n.3132C>T
c.2978C>T (p.Pro993Leu)
c.3152C>T (p.Pro1051Leu)
 COSMIC
7g.41965918G>CCA367319047GLI3c.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
7g.41965918G>TCA367319048GLI3c.3155C>A (p.Pro1052His)
c.2981C>A (p.Pro994His)
n.3132C>A
c.2978C>A (p.Pro993His)
c.3152C>A (p.Pro1051His)
7g.41965919G>ACA367319050GLI3c.3154C>T (p.Pro1052Ser)
c.2980C>T (p.Pro994Ser)
n.3131C>T
c.2977C>T (p.Pro993Ser)
c.3151C>T (p.Pro1051Ser)
7g.41965919G>CCA367319051GLI3c.3154C>G (p.Pro1052Ala)
c.2980C>G (p.Pro994Ala)
n.3131C>G
c.2977C>G (p.Pro993Ala)
c.3151C>G (p.Pro1051Ala)
7g.41965919G=CA1702661001GLI3c.3154C= (p.Pro1052=)
c.2980C= (p.Pro994=)
n.3131C=
c.2977C= (p.Pro993=)
c.3151C= (p.Pro1051=)
7g.41965919G>TCA367319049GLI3c.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
7g.41965920C>ACA454661813GLI3c.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
7g.41965920C=CA1702661002GLI3c.3153G= (p.Arg1051=)
c.2979G= (p.Arg993=)
n.3130G=
c.2976G= (p.Arg992=)
c.3150G= (p.Arg1050=)
7g.41965920C>GCA454661814GLI3c.3153G>C (p.Arg1051=)
c.2979G>C (p.Arg993=)
n.3130G>C
c.2976G>C (p.Arg992=)
c.3150G>C (p.Arg1050=)
7g.41965920C>TCA4230433GLI3c.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
7g.41965921C>ACA367319052GLI3c.3152G>T (p.Arg1051Leu)
c.2978G>T (p.Arg993Leu)
n.3129G>T
c.2975G>T (p.Arg992Leu)
c.3149G>T (p.Arg1050Leu)
 COSMIC
7g.41965921C=CA1702661003GLI3c.3152G= (p.Arg1051=)
c.2978G= (p.Arg993=)
n.3129G=
c.2975G= (p.Arg992=)
c.3149G= (p.Arg1050=)
7g.41965921C>GCA367319053GLI3c.3152G>C (p.Arg1051Pro)
c.2978G>C (p.Arg993Pro)
n.3129G>C
c.2975G>C (p.Arg992Pro)
c.3149G>C (p.Arg1050Pro)
7g.41965921C>TCA367319054GLI3c.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
7g.41965922G>ACA4230434GLI3c.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
7g.41965922G>CCA367319055GLI3c.3151C>G (p.Arg1051Gly)
c.2977C>G (p.Arg993Gly)
n.3128C>G
c.2974C>G (p.Arg992Gly)
c.3148C>G (p.Arg1050Gly)
7g.41965922G=CA1702661004GLI3c.3151C= (p.Arg1051=)
c.2977C= (p.Arg993=)
n.3128C=
c.2974C= (p.Arg992=)
c.3148C= (p.Arg1050=)
7g.41965922G>TCA454661815GLI3c.3151C>A (p.Arg1051=)
c.2977C>A (p.Arg993=)
n.3128C>A
c.2974C>A (p.Arg992=)
c.3148C>A (p.Arg1050=)
7g.41965923C>ACA454661816GLI3c.3150G>T (p.Thr1050=)
c.2976G>T (p.Thr992=)
n.3127G>T
c.2973G>T (p.Thr991=)
c.3147G>T (p.Thr1049=)
7g.41965923C=CA1702661005GLI3c.3150G= (p.Thr1050=)
c.2976G= (p.Thr992=)
n.3127G=
c.2973G= (p.Thr991=)
c.3147G= (p.Thr1049=)
7g.41965923C>GCA454661817GLI3c.3150G>C (p.Thr1050=)
c.2976G>C (p.Thr992=)
n.3127G>C
c.2973G>C (p.Thr991=)
c.3147G>C (p.Thr1049=)
7g.41965923C>TCA156904562GLI3c.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
7g.41965924G>ACA4230435GLI3c.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
7g.41965924G>CCA367319057GLI3c.3149C>G (p.Thr1050Arg)
c.2975C>G (p.Thr992Arg)
n.3126C>G
c.2972C>G (p.Thr991Arg)
c.3146C>G (p.Thr1049Arg)
7g.41965924G=CA1702661006GLI3c.3149C= (p.Thr1050=)
c.2975C= (p.Thr992=)
n.3126C=
c.2972C= (p.Thr991=)
c.3146C= (p.Thr1049=)
7g.41965924G>TCA367319056GLI3c.3149C>A (p.Thr1050Lys)
c.2975C>A (p.Thr992Lys)
n.3126C>A
c.2972C>A (p.Thr991Lys)
c.3146C>A (p.Thr1049Lys)
 gnomAD v4
7g.41965925T>ACA4230436GLI3c.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
7g.41965925T>CCA367319058GLI3c.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
7g.41965925T>GCA367319059GLI3c.3148A>C (p.Thr1050Pro)
c.2974A>C (p.Thr992Pro)
n.3125A>C
c.2971A>C (p.Thr991Pro)
c.3145A>C (p.Thr1049Pro)
7g.41965925T=CA1702661007GLI3c.3148A= (p.Thr1050=)
c.2974A= (p.Thr992=)
n.3125A=
c.2971A= (p.Thr991=)
c.3145A= (p.Thr1049=)
7g.41965926G>ACA4230437GLI3c.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
7g.41965926G>CCA367319060GLI3c.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
7g.41965926G=CA1702661008GLI3c.3147C= (p.Tyr1049=)
c.2973C= (p.Tyr991=)
n.3124C=
c.2970C= (p.Tyr990=)
c.3144C= (p.Tyr1048=)
7g.41965926G>TCA367319061GLI3c.3147C>A (p.Tyr1049Ter)
c.2973C>A (p.Tyr991Ter)
n.3124C>A
c.2970C>A (p.Tyr990Ter)
c.3144C>A (p.Tyr1048Ter)
 ClinVar
7g.41965927T>ACA367319062GLI3c.3146A>T (p.Tyr1049Phe)
c.2972A>T (p.Tyr991Phe)
n.3123A>T
c.2969A>T (p.Tyr990Phe)
c.3143A>T (p.Tyr1048Phe)
7g.41965927T>CCA367319064GLI3c.3146A>G (p.Tyr1049Cys)
c.2972A>G (p.Tyr991Cys)
n.3123A>G
c.2969A>G (p.Tyr990Cys)
c.3143A>G (p.Tyr1048Cys)
7g.41965927T>GCA367319063GLI3c.3146A>C (p.Tyr1049Ser)
c.2972A>C (p.Tyr991Ser)
n.3123A>C
c.2969A>C (p.Tyr990Ser)
c.3143A>C (p.Tyr1048Ser)
7g.41965928A>CCA367319065GLI3c.3145T>G (p.Tyr1049Asp)
c.2971T>G (p.Tyr991Asp)
n.3122T>G
c.2968T>G (p.Tyr990Asp)
c.3142T>G (p.Tyr1048Asp)
7g.41965928A>GCA367319066GLI3c.3145T>C (p.Tyr1049His)
c.2971T>C (p.Tyr991His)
n.3122T>C
c.2968T>C (p.Tyr990His)
c.3142T>C (p.Tyr1048His)
 gnomAD v4
7g.41965928A>TCA367319067GLI3c.3145T>A (p.Tyr1049Asn)
c.2971T>A (p.Tyr991Asn)
n.3122T>A
c.2968T>A (p.Tyr990Asn)
c.3142T>A (p.Tyr1048Asn)
7g.41965929A>CCA367319068GLI3c.3144T>G (p.Asn1048Lys)
c.2970T>G (p.Asn990Lys)
n.3121T>G
c.2967T>G (p.Asn989Lys)
c.3141T>G (p.Asn1047Lys)
7g.41965929A>GCA454661818GLI3c.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
7g.41965929A>TCA367319069GLI3c.3144T>A (p.Asn1048Lys)
c.2970T>A (p.Asn990Lys)
n.3121T>A
c.2967T>A (p.Asn989Lys)
c.3141T>A (p.Asn1047Lys)
7g.41965930T>ACA367319070GLI3c.3143A>T (p.Asn1048Ile)
c.2969A>T (p.Asn990Ile)
n.3120A>T
c.2966A>T (p.Asn989Ile)
c.3140A>T (p.Asn1047Ile)
7g.41965930T>CCA367319071GLI3c.3143A>G (p.Asn1048Ser)
c.2969A>G (p.Asn990Ser)
n.3120A>G
c.2966A>G (p.Asn989Ser)
c.3140A>G (p.Asn1047Ser)
7g.41965930T>GCA367319072GLI3c.3143A>C (p.Asn1048Thr)
c.2969A>C (p.Asn990Thr)
n.3120A>C
c.2966A>C (p.Asn989Thr)
c.3140A>C (p.Asn1047Thr)
7g.41965931T>ACA367319073GLI3c.3142A>T (p.Asn1048Tyr)
c.2968A>T (p.Asn990Tyr)
n.3119A>T
c.2965A>T (p.Asn989Tyr)
c.3139A>T (p.Asn1047Tyr)
7g.41965931T>CCA367319074GLI3c.3142A>G (p.Asn1048Asp)
c.2968A>G (p.Asn990Asp)
n.3119A>G
c.2965A>G (p.Asn989Asp)
c.3139A>G (p.Asn1047Asp)
7g.41965931T>GCA367319075GLI3c.3142A>C (p.Asn1048His)
c.2968A>C (p.Asn990His)
n.3119A>C
c.2965A>C (p.Asn989His)
c.3139A>C (p.Asn1047His)
7g.41965932C>ACA367319076GLI3c.3141G>T (p.Gln1047His)
c.2967G>T (p.Gln989His)
n.3118G>T
c.2964G>T (p.Gln988His)
c.3138G>T (p.Gln1046His)
 COSMIC
7g.41965932C=CA1702661009GLI3c.3141G= (p.Gln1047=)
c.2967G= (p.Gln989=)
n.3118G=
c.2964G= (p.Gln988=)
c.3138G= (p.Gln1046=)
7g.41965932C>GCA367319077GLI3c.3141G>C (p.Gln1047His)
c.2967G>C (p.Gln989His)
n.3118G>C
c.2964G>C (p.Gln988His)
c.3138G>C (p.Gln1046His)
7g.41965932C>TCA4230438GLI3c.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
7g.41965932_41965933delinsCTCA1702661010GLI3c.3140_3141delinsAG (p.Gln1047=)
c.2966_2967delinsAG (p.Gln989=)
n.3117_3118delinsAG
c.2963_2964delinsAG (p.Gln988=)
c.3137_3138delinsAG (p.Gln1046=)
7g.41965932_41965933delinsTGCA16618461GLI3c.3140_3141delinsCA (p.Gln1047Pro)
c.2966_2967delinsCA (p.Gln989Pro)
n.3117_3118delinsCA
c.2963_2964delinsCA (p.Gln988Pro)
c.3137_3138delinsCA (p.Gln1046Pro)
 ClinVar dbSNP
7g.41965933T>ACA367319078GLI3c.3140A>T (p.Gln1047Leu)
c.2966A>T (p.Gln989Leu)
n.3117A>T
c.2963A>T (p.Gln988Leu)
c.3137A>T (p.Gln1046Leu)
7g.41965933T>CCA367319079GLI3c.3140A>G (p.Gln1047Arg)
c.2966A>G (p.Gln989Arg)
n.3117A>G
c.2963A>G (p.Gln988Arg)
c.3137A>G (p.Gln1046Arg)
7g.41965933T>GCA4230439GLI3c.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
7g.41965933T=CA1702661011GLI3c.3140A= (p.Gln1047=)
c.2966A= (p.Gln989=)
n.3117A=
c.2963A= (p.Gln988=)
c.3137A= (p.Gln1046=)
7g.41965934G>ACA367319080GLI3c.3139C>T (p.Gln1047Ter)
c.2965C>T (p.Gln989Ter)
n.3116C>T
c.2962C>T (p.Gln988Ter)
c.3136C>T (p.Gln1046Ter)
7g.41965934G>CCA367319081GLI3c.3139C>G (p.Gln1047Glu)
c.2965C>G (p.Gln989Glu)
n.3116C>G
c.2962C>G (p.Gln988Glu)
c.3136C>G (p.Gln1046Glu)
7g.41965934G=CA1702661012GLI3c.3139C= (p.Gln1047=)
c.2965C= (p.Gln989=)
n.3116C=
c.2962C= (p.Gln988=)
c.3136C= (p.Gln1046=)
7g.41965934G>TCA367319082GLI3c.3139C>A (p.Gln1047Lys)
c.2965C>A (p.Gln989Lys)
n.3116C>A
c.2962C>A (p.Gln988Lys)
c.3136C>A (p.Gln1046Lys)
 dbSNP
7g.41965935A>CCA454661821GLI3c.3138T>G (p.Leu1046=)
c.2964T>G (p.Leu988=)
n.3115T>G
c.2961T>G (p.Leu987=)
c.3135T>G (p.Leu1045=)
7g.41965935A>GCA454661820GLI3c.3138T>C (p.Leu1046=)
c.2964T>C (p.Leu988=)
n.3115T>C
c.2961T>C (p.Leu987=)
c.3135T>C (p.Leu1045=)
7g.41965935A>TCA454661819GLI3c.3138T>A (p.Leu1046=)
c.2964T>A (p.Leu988=)
n.3115T>A
c.2961T>A (p.Leu987=)
c.3135T>A (p.Leu1045=)
 COSMIC
7g.41965936A>CCA367319083GLI3c.3137T>G (p.Leu1046Arg)
c.2963T>G (p.Leu988Arg)
n.3114T>G
c.2960T>G (p.Leu987Arg)
c.3134T>G (p.Leu1045Arg)
7g.41965936A>GCA367319084GLI3c.3137T>C (p.Leu1046Pro)
c.2963T>C (p.Leu988Pro)
n.3114T>C
c.2960T>C (p.Leu987Pro)
c.3134T>C (p.Leu1045Pro)
 ClinVar
7g.41965936A>TCA367319085GLI3c.3137T>A (p.Leu1046His)
c.2963T>A (p.Leu988His)
n.3114T>A
c.2960T>A (p.Leu987His)
c.3134T>A (p.Leu1045His)
7g.41965937G>ACA367319086GLI3c.3136C>T (p.Leu1046Phe)
c.2962C>T (p.Leu988Phe)
n.3113C>T
c.2959C>T (p.Leu987Phe)
c.3133C>T (p.Leu1045Phe)
7g.41965937G>CCA367319087GLI3c.3136C>G (p.Leu1046Val)
c.2962C>G (p.Leu988Val)
n.3113C>G
c.2959C>G (p.Leu987Val)
c.3133C>G (p.Leu1045Val)
7g.41965937G>TCA367319088GLI3c.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
7g.41965938C>ACA454661822GLI3c.3135G>T (p.Val1045=)
c.2961G>T (p.Val987=)
n.3112G>T
c.2958G>T (p.Val986=)
c.3132G>T (p.Val1044=)
7g.41965938C>GCA454661823GLI3c.3135G>C (p.Val1045=)
c.2961G>C (p.Val987=)
n.3112G>C
c.2958G>C (p.Val986=)
c.3132G>C (p.Val1044=)
7g.41965938C>TCA454661824GLI3c.3135G>A (p.Val1045=)
c.2961G>A (p.Val987=)
n.3112G>A
c.2958G>A (p.Val986=)
c.3132G>A (p.Val1044=)
7g.41965939A>CCA367319091GLI3c.3134T>G (p.Val1045Gly)
c.2960T>G (p.Val987Gly)
n.3111T>G
c.2957T>G (p.Val986Gly)
c.3131T>G (p.Val1044Gly)
7g.41965939A>GCA367319089GLI3c.3134T>C (p.Val1045Ala)
c.2960T>C (p.Val987Ala)
n.3111T>C
c.2957T>C (p.Val986Ala)
c.3131T>C (p.Val1044Ala)
 gnomAD v4
7g.41965939A>TCA367319090GLI3c.3134T>A (p.Val1045Glu)
c.2960T>A (p.Val987Glu)
n.3111T>A
c.2957T>A (p.Val986Glu)
c.3131T>A (p.Val1044Glu)
 gnomAD v4
7g.41965940C>ACA367319092GLI3c.3133G>T (p.Val1045Leu)
c.2959G>T (p.Val987Leu)
n.3110G>T
c.2956G>T (p.Val986Leu)
c.3130G>T (p.Val1044Leu)
 gnomAD v4
7g.41965940C=CA1702661013GLI3c.3133G= (p.Val1045=)
c.2959G= (p.Val987=)
n.3110G=
c.2956G= (p.Val986=)
c.3130G= (p.Val1044=)
7g.41965940C>GCA367319093GLI3c.3133G>C (p.Val1045Leu)
c.2959G>C (p.Val987Leu)
n.3110G>C
c.2956G>C (p.Val986Leu)
c.3130G>C (p.Val1044Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.41965940C>TCA367319094GLI3c.3133G>A (p.Val1045Met)
c.2959G>A (p.Val987Met)
n.3110G>A
c.2956G>A (p.Val986Met)
c.3130G>A (p.Val1044Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.41965941G>ACA454661825GLI3c.3132C>T (p.Leu1044=)
c.2958C>T (p.Leu986=)
n.3109C>T
c.2955C>T (p.Leu985=)
c.3129C>T (p.Leu1043=)
7g.41965941G>CCA454661827GLI3c.3132C>G (p.Leu1044=)
c.2958C>G (p.Leu986=)
n.3109C>G
c.2955C>G (p.Leu985=)
c.3129C>G (p.Leu1043=)
 ClinVar gnomAD v4
7g.41965941G>TCA454661826GLI3c.3132C>A (p.Leu1044=)
c.2958C>A (p.Leu986=)
n.3109C>A
c.2955C>A (p.Leu985=)
c.3129C>A (p.Leu1043=)
 gnomAD v4
7g.41965942A=CA1702661014GLI3c.3131T= (p.Leu1044=)
c.2957T= (p.Leu986=)
n.3108T=
c.2954T= (p.Leu985=)
c.3128T= (p.Leu1043=)
7g.41965942A>CCA367319095GLI3c.3131T>G (p.Leu1044Arg)
c.2957T>G (p.Leu986Arg)
n.3108T>G
c.2954T>G (p.Leu985Arg)
c.3128T>G (p.Leu1043Arg)
7g.41965942A>GCA367319096GLI3c.3131T>C (p.Leu1044Pro)
c.2957T>C (p.Leu986Pro)
n.3108T>C
c.2954T>C (p.Leu985Pro)
c.3128T>C (p.Leu1043Pro)
 dbSNP gnomAD v2 gnomAD v4
7g.41965942A>TCA367319097GLI3c.3131T>A (p.Leu1044His)
c.2957T>A (p.Leu986His)
n.3108T>A
c.2954T>A (p.Leu985His)
c.3128T>A (p.Leu1043His)
 gnomAD v4
7g.41965943G>ACA367319098GLI3c.3130C>T (p.Leu1044Phe)
c.2956C>T (p.Leu986Phe)
n.3107C>T
c.2953C>T (p.Leu985Phe)
c.3127C>T (p.Leu1043Phe)
 gnomAD v4
7g.41965943G>CCA367319099GLI3c.3130C>G (p.Leu1044Val)
c.2956C>G (p.Leu986Val)
n.3107C>G
c.2953C>G (p.Leu985Val)
c.3127C>G (p.Leu1043Val)
 dbSNP gnomAD v3 gnomAD v4
7g.41965943G=CA1702661015GLI3c.3130C= (p.Leu1044=)
c.2956C= (p.Leu986=)
n.3107C=
c.2953C= (p.Leu985=)
c.3127C= (p.Leu1043=)
7g.41965943G>TCA367319100GLI3c.3130C>A (p.Leu1044Ile)
c.2956C>A (p.Leu986Ile)
n.3107C>A
c.2953C>A (p.Leu985Ile)
c.3127C>A (p.Leu1043Ile)
7g.41965944A>CCA367319101GLI3c.3129T>G (p.Ser1043Arg)
c.2955T>G (p.Ser985Arg)
n.3106T>G
c.2952T>G (p.Ser984Arg)
c.3126T>G (p.Ser1042Arg)
7g.41965944A>GCA454661828GLI3c.3129T>C (p.Ser1043=)
c.2955T>C (p.Ser985=)
n.3106T>C
c.2952T>C (p.Ser984=)
c.3126T>C (p.Ser1042=)
 gnomAD v4
7g.41965944A>TCA367319102GLI3c.3129T>A (p.Ser1043Arg)
c.2955T>A (p.Ser985Arg)
n.3106T>A
c.2952T>A (p.Ser984Arg)
c.3126T>A (p.Ser1042Arg)

Number of alleles fetched