Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.41965660T>ACA367318091GLI3c.3413A>T (p.His1138Leu)
c.3239A>T (p.His1080Leu)
n.3390A>T
c.3236A>T (p.His1079Leu)
c.3410A>T (p.His1137Leu)
7g.41965660T>CCA367318092GLI3c.3413A>G (p.His1138Arg)
c.3239A>G (p.His1080Arg)
n.3390A>G
c.3236A>G (p.His1079Arg)
c.3410A>G (p.His1137Arg)
7g.41965660T>GCA367318093GLI3c.3413A>C (p.His1138Pro)
c.3239A>C (p.His1080Pro)
n.3390A>C
c.3236A>C (p.His1079Pro)
c.3410A>C (p.His1137Pro)
 dbSNP gnomAD v3 gnomAD v4
7g.41965660T=CA1702660866GLI3c.3413A= (p.His1138=)
c.3239A= (p.His1080=)
n.3390A=
c.3236A= (p.His1079=)
c.3410A= (p.His1137=)
7g.41965661G>ACA367318094GLI3c.3412C>T (p.His1138Tyr)
c.3238C>T (p.His1080Tyr)
n.3389C>T
c.3235C>T (p.His1079Tyr)
c.3409C>T (p.His1137Tyr)
7g.41965661G>CCA367318095GLI3c.3412C>G (p.His1138Asp)
c.3238C>G (p.His1080Asp)
n.3389C>G
c.3235C>G (p.His1079Asp)
c.3409C>G (p.His1137Asp)
 dbSNP gnomAD v2 gnomAD v4
7g.41965661G=CA1702660867GLI3c.3412C= (p.His1138=)
c.3238C= (p.His1080=)
n.3389C=
c.3235C= (p.His1079=)
c.3409C= (p.His1137=)
7g.41965661G>TCA367318096GLI3c.3412C>A (p.His1138Asn)
c.3238C>A (p.His1080Asn)
n.3389C>A
c.3235C>A (p.His1079Asn)
c.3409C>A (p.His1137Asn)
7g.41965662G>ACA454661992GLI3c.3411C>T (p.Ser1137=)
c.3237C>T (p.Ser1079=)
n.3388C>T
c.3234C>T (p.Ser1078=)
c.3408C>T (p.Ser1136=)
 gnomAD v4
7g.41965662G>CCA367318097GLI3c.3411C>G (p.Ser1137Arg)
c.3237C>G (p.Ser1079Arg)
n.3388C>G
c.3234C>G (p.Ser1078Arg)
c.3408C>G (p.Ser1136Arg)
7g.41965662G=CA1702660868GLI3c.3411C= (p.Ser1137=)
c.3237C= (p.Ser1079=)
n.3388C=
c.3234C= (p.Ser1078=)
c.3408C= (p.Ser1136=)
7g.41965662G>TCA156904100GLI3c.3411C>A (p.Ser1137Arg)
c.3237C>A (p.Ser1079Arg)
n.3388C>A
c.3234C>A (p.Ser1078Arg)
c.3408C>A (p.Ser1136Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.41965663C>ACA367318098GLI3c.3410G>T (p.Ser1137Ile)
c.3236G>T (p.Ser1079Ile)
n.3387G>T
c.3233G>T (p.Ser1078Ile)
c.3407G>T (p.Ser1136Ile)
7g.41965663C>GCA367318099GLI3c.3410G>C (p.Ser1137Thr)
c.3236G>C (p.Ser1079Thr)
n.3387G>C
c.3233G>C (p.Ser1078Thr)
c.3407G>C (p.Ser1136Thr)
7g.41965663C>TCA367318100GLI3c.3410G>A (p.Ser1137Asn)
c.3236G>A (p.Ser1079Asn)
n.3387G>A
c.3233G>A (p.Ser1078Asn)
c.3407G>A (p.Ser1136Asn)
7g.41965664T>ACA367318101GLI3c.3409A>T (p.Ser1137Cys)
c.3235A>T (p.Ser1079Cys)
n.3386A>T
c.3232A>T (p.Ser1078Cys)
c.3406A>T (p.Ser1136Cys)
7g.41965664T>CCA367318102GLI3c.3409A>G (p.Ser1137Gly)
c.3235A>G (p.Ser1079Gly)
n.3386A>G
c.3232A>G (p.Ser1078Gly)
c.3406A>G (p.Ser1136Gly)
7g.41965664T>GCA367318103GLI3c.3409A>C (p.Ser1137Arg)
c.3235A>C (p.Ser1079Arg)
n.3386A>C
c.3232A>C (p.Ser1078Arg)
c.3406A>C (p.Ser1136Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.41965664T=CA1702660869GLI3c.3409A= (p.Ser1137=)
c.3235A= (p.Ser1079=)
n.3386A=
c.3232A= (p.Ser1078=)
c.3406A= (p.Ser1136=)
7g.41965665G>ACA454661995GLI3c.3408C>T (p.Asp1136=)
c.3234C>T (p.Asp1078=)
n.3385C>T
c.3231C>T (p.Asp1077=)
c.3405C>T (p.Asp1135=)
7g.41965665G>CCA367318104GLI3c.3408C>G (p.Asp1136Glu)
c.3234C>G (p.Asp1078Glu)
n.3385C>G
c.3231C>G (p.Asp1077Glu)
c.3405C>G (p.Asp1135Glu)
 gnomAD v4
7g.41965665G>TCA367318105GLI3c.3408C>A (p.Asp1136Glu)
c.3234C>A (p.Asp1078Glu)
n.3385C>A
c.3231C>A (p.Asp1077Glu)
c.3405C>A (p.Asp1135Glu)
7g.41965666T>ACA367318106GLI3c.3407A>T (p.Asp1136Val)
c.3233A>T (p.Asp1078Val)
n.3384A>T
c.3230A>T (p.Asp1077Val)
c.3404A>T (p.Asp1135Val)
 gnomAD v4
7g.41965666T>CCA367318108GLI3c.3407A>G (p.Asp1136Gly)
c.3233A>G (p.Asp1078Gly)
n.3384A>G
c.3230A>G (p.Asp1077Gly)
c.3404A>G (p.Asp1135Gly)
7g.41965666T>GCA367318107GLI3c.3407A>C (p.Asp1136Ala)
c.3233A>C (p.Asp1078Ala)
n.3384A>C
c.3230A>C (p.Asp1077Ala)
c.3404A>C (p.Asp1135Ala)
7g.41965667C>ACA367318109GLI3c.3406G>T (p.Asp1136Tyr)
c.3232G>T (p.Asp1078Tyr)
n.3383G>T
c.3229G>T (p.Asp1077Tyr)
c.3403G>T (p.Asp1135Tyr)
7g.41965667C>GCA367318110GLI3c.3406G>C (p.Asp1136His)
c.3232G>C (p.Asp1078His)
n.3383G>C
c.3229G>C (p.Asp1077His)
c.3403G>C (p.Asp1135His)
7g.41965667C>TCA367318111GLI3c.3406G>A (p.Asp1136Asn)
c.3232G>A (p.Asp1078Asn)
n.3383G>A
c.3229G>A (p.Asp1077Asn)
c.3403G>A (p.Asp1135Asn)
7g.41965668T>ACA454661996GLI3c.3405A>T (p.Pro1135=)
c.3231A>T (p.Pro1077=)
n.3382A>T
c.3228A>T (p.Pro1076=)
c.3402A>T (p.Pro1134=)
 ClinVar dbSNP
7g.41965668T>CCA454661997GLI3c.3405A>G (p.Pro1135=)
c.3231A>G (p.Pro1077=)
n.3382A>G
c.3228A>G (p.Pro1076=)
c.3402A>G (p.Pro1134=)
 dbSNP gnomAD v4
7g.41965668T>GCA454661999GLI3c.3405A>C (p.Pro1135=)
c.3231A>C (p.Pro1077=)
n.3382A>C
c.3228A>C (p.Pro1076=)
c.3402A>C (p.Pro1134=)
7g.41965668T=CA1702660870GLI3c.3405A= (p.Pro1135=)
c.3231A= (p.Pro1077=)
n.3382A=
c.3228A= (p.Pro1076=)
c.3402A= (p.Pro1134=)
7g.41965669G>ACA367318112GLI3c.3404C>T (p.Pro1135Leu)
c.3230C>T (p.Pro1077Leu)
n.3381C>T
c.3227C>T (p.Pro1076Leu)
c.3401C>T (p.Pro1134Leu)
7g.41965669G>CCA367318113GLI3c.3404C>G (p.Pro1135Arg)
c.3230C>G (p.Pro1077Arg)
n.3381C>G
c.3227C>G (p.Pro1076Arg)
c.3401C>G (p.Pro1134Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41965669G=CA1702660871GLI3c.3404C= (p.Pro1135=)
c.3230C= (p.Pro1077=)
n.3381C=
c.3227C= (p.Pro1076=)
c.3401C= (p.Pro1134=)
7g.41965669G>TCA367318114GLI3c.3404C>A (p.Pro1135Gln)
c.3230C>A (p.Pro1077Gln)
n.3381C>A
c.3227C>A (p.Pro1076Gln)
c.3401C>A (p.Pro1134Gln)
7g.41965670G>ACA367318115GLI3c.3403C>T (p.Pro1135Ser)
c.3229C>T (p.Pro1077Ser)
n.3380C>T
c.3226C>T (p.Pro1076Ser)
c.3400C>T (p.Pro1134Ser)
 gnomAD v4
7g.41965670G>CCA367318116GLI3c.3403C>G (p.Pro1135Ala)
c.3229C>G (p.Pro1077Ala)
n.3380C>G
c.3226C>G (p.Pro1076Ala)
c.3400C>G (p.Pro1134Ala)
7g.41965670G>TCA367318117GLI3c.3403C>A (p.Pro1135Thr)
c.3229C>A (p.Pro1077Thr)
n.3380C>A
c.3226C>A (p.Pro1076Thr)
c.3400C>A (p.Pro1134Thr)
7g.41965671C>ACA454662001GLI3c.3402G>T (p.Leu1134=)
c.3228G>T (p.Leu1076=)
n.3379G>T
c.3225G>T (p.Leu1075=)
c.3399G>T (p.Leu1133=)
7g.41965671C>GCA454662002GLI3c.3402G>C (p.Leu1134=)
c.3228G>C (p.Leu1076=)
n.3379G>C
c.3225G>C (p.Leu1075=)
c.3399G>C (p.Leu1133=)
7g.41965671C>TCA454662003GLI3c.3402G>A (p.Leu1134=)
c.3228G>A (p.Leu1076=)
n.3379G>A
c.3225G>A (p.Leu1075=)
c.3399G>A (p.Leu1133=)
7g.41965672A>CCA367318118GLI3c.3401T>G (p.Leu1134Arg)
c.3227T>G (p.Leu1076Arg)
n.3378T>G
c.3224T>G (p.Leu1075Arg)
c.3398T>G (p.Leu1133Arg)
7g.41965672A>GCA367318119GLI3c.3401T>C (p.Leu1134Pro)
c.3227T>C (p.Leu1076Pro)
n.3378T>C
c.3224T>C (p.Leu1075Pro)
c.3398T>C (p.Leu1133Pro)
 gnomAD v4
7g.41965672A>TCA367318120GLI3c.3401T>A (p.Leu1134Gln)
c.3227T>A (p.Leu1076Gln)
n.3378T>A
c.3224T>A (p.Leu1075Gln)
c.3398T>A (p.Leu1133Gln)
7g.41965673G>ACA454662004GLI3c.3400C>T (p.Leu1134=)
c.3226C>T (p.Leu1076=)
n.3377C>T
c.3223C>T (p.Leu1075=)
c.3397C>T (p.Leu1133=)
 ClinVar gnomAD v4
7g.41965673G>CCA367318121GLI3c.3400C>G (p.Leu1134Val)
c.3226C>G (p.Leu1076Val)
n.3377C>G
c.3223C>G (p.Leu1075Val)
c.3397C>G (p.Leu1133Val)
7g.41965673G>TCA367318122GLI3c.3400C>A (p.Leu1134Met)
c.3226C>A (p.Leu1076Met)
n.3377C>A
c.3223C>A (p.Leu1075Met)
c.3397C>A (p.Leu1133Met)
7g.41965674C>ACA454662006GLI3c.3399G>T (p.Gly1133=)
c.3225G>T (p.Gly1075=)
n.3376G>T
c.3222G>T (p.Gly1074=)
c.3396G>T (p.Gly1132=)
7g.41965674C>GCA454662007GLI3c.3399G>C (p.Gly1133=)
c.3225G>C (p.Gly1075=)
n.3376G>C
c.3222G>C (p.Gly1074=)
c.3396G>C (p.Gly1132=)
7g.41965674C>TCA454662008GLI3c.3399G>A (p.Gly1133=)
c.3225G>A (p.Gly1075=)
n.3376G>A
c.3222G>A (p.Gly1074=)
c.3396G>A (p.Gly1132=)
7g.41965675C>ACA367318123GLI3c.3398G>T (p.Gly1133Val)
c.3224G>T (p.Gly1075Val)
n.3375G>T
c.3221G>T (p.Gly1074Val)
c.3395G>T (p.Gly1132Val)
7g.41965675C>GCA367318124GLI3c.3398G>C (p.Gly1133Ala)
c.3224G>C (p.Gly1075Ala)
n.3375G>C
c.3221G>C (p.Gly1074Ala)
c.3395G>C (p.Gly1132Ala)
7g.41965675C>TCA367318125GLI3c.3398G>A (p.Gly1133Glu)
c.3224G>A (p.Gly1075Glu)
n.3375G>A
c.3221G>A (p.Gly1074Glu)
c.3395G>A (p.Gly1132Glu)
 COSMIC
7g.41965675_41965681delinsCCGGGCGCA1702660872GLI3c.3392_3398delinsCGCCCGG (p.Ala1131=)
c.3218_3224delinsCGCCCGG (p.Ala1073=)
n.3369_3375delinsCGCCCGG
c.3215_3221delinsCGCCCGG (p.Ala1072=)
c.3389_3395delinsCGCCCGG (p.Ala1130=)
7g.41965676C>ACA367318126GLI3c.3397G>T (p.Gly1133Trp)
c.3223G>T (p.Gly1075Trp)
n.3374G>T
c.3220G>T (p.Gly1074Trp)
c.3394G>T (p.Gly1132Trp)
7g.41965676C=CA1702660874GLI3c.3397G= (p.Gly1133=)
c.3223G= (p.Gly1075=)
n.3374G=
c.3220G= (p.Gly1074=)
c.3394G= (p.Gly1132=)
7g.41965676C>GCA367318127GLI3c.3397G>C (p.Gly1133Arg)
c.3223G>C (p.Gly1075Arg)
n.3374G>C
c.3220G>C (p.Gly1074Arg)
c.3394G>C (p.Gly1132Arg)
 dbSNP
7g.41965676C>TCA4230371GLI3c.3397G>A (p.Gly1133Arg)
c.3223G>A (p.Gly1075Arg)
n.3374G>A
c.3220G>A (p.Gly1074Arg)
c.3394G>A (p.Gly1132Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41965678_41965683delCA1702660873GLI3c.3392_3397del (p.Ala1131_Pro1132del)
c.3218_3223del (p.Ala1073_Pro1074del)
n.3369_3374del
c.3215_3220del (p.Ala1072_Pro1073del)
c.3389_3394del (p.Ala1130_Pro1131del)
 ClinVar dbSNP
7g.41965677G>ACA156904110GLI3c.3396C>T (p.Pro1132=)
c.3222C>T (p.Pro1074=)
n.3373C>T
c.3219C>T (p.Pro1073=)
c.3393C>T (p.Pro1131=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41965677G>CCA454662011GLI3c.3396C>G (p.Pro1132=)
c.3222C>G (p.Pro1074=)
n.3373C>G
c.3219C>G (p.Pro1073=)
c.3393C>G (p.Pro1131=)
 gnomAD v4
7g.41965677G=CA1702660875GLI3c.3396C= (p.Pro1132=)
c.3222C= (p.Pro1074=)
n.3373C=
c.3219C= (p.Pro1073=)
c.3393C= (p.Pro1131=)
7g.41965677G>TCA454662010GLI3c.3396C>A (p.Pro1132=)
c.3222C>A (p.Pro1074=)
n.3373C>A
c.3219C>A (p.Pro1073=)
c.3393C>A (p.Pro1131=)
7g.41965678G>ACA367318128GLI3c.3395C>T (p.Pro1132Leu)
c.3221C>T (p.Pro1074Leu)
n.3372C>T
c.3218C>T (p.Pro1073Leu)
c.3392C>T (p.Pro1131Leu)
 COSMIC
7g.41965678G>CCA367318129GLI3c.3395C>G (p.Pro1132Arg)
c.3221C>G (p.Pro1074Arg)
n.3372C>G
c.3218C>G (p.Pro1073Arg)
c.3392C>G (p.Pro1131Arg)
7g.41965678G>TCA367318130GLI3c.3395C>A (p.Pro1132His)
c.3221C>A (p.Pro1074His)
n.3372C>A
c.3218C>A (p.Pro1073His)
c.3392C>A (p.Pro1131His)
7g.41965679G>ACA367318131GLI3c.3394C>T (p.Pro1132Ser)
c.3220C>T (p.Pro1074Ser)
n.3371C>T
c.3217C>T (p.Pro1073Ser)
c.3391C>T (p.Pro1131Ser)
 dbSNP gnomAD v4
7g.41965679G>CCA367318132GLI3c.3394C>G (p.Pro1132Ala)
c.3220C>G (p.Pro1074Ala)
n.3371C>G
c.3217C>G (p.Pro1073Ala)
c.3391C>G (p.Pro1131Ala)
 dbSNP gnomAD v4
7g.41965679G=CA1702660876GLI3c.3394C= (p.Pro1132=)
c.3220C= (p.Pro1074=)
n.3371C=
c.3217C= (p.Pro1073=)
c.3391C= (p.Pro1131=)
7g.41965679G>TCA367318133GLI3c.3394C>A (p.Pro1132Thr)
c.3220C>A (p.Pro1074Thr)
n.3371C>A
c.3217C>A (p.Pro1073Thr)
c.3391C>A (p.Pro1131Thr)
7g.41965680C>ACA454662018GLI3c.3393G>T (p.Ala1131=)
c.3219G>T (p.Ala1073=)
n.3370G>T
c.3216G>T (p.Ala1072=)
c.3390G>T (p.Ala1130=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.41965680C=CA1702660877GLI3c.3393G= (p.Ala1131=)
c.3219G= (p.Ala1073=)
n.3370G=
c.3216G= (p.Ala1072=)
c.3390G= (p.Ala1130=)
7g.41965680C>GCA454662019GLI3c.3393G>C (p.Ala1131=)
c.3219G>C (p.Ala1073=)
n.3370G>C
c.3216G>C (p.Ala1072=)
c.3390G>C (p.Ala1130=)
7g.41965680C>TCA454662020GLI3c.3393G>A (p.Ala1131=)
c.3219G>A (p.Ala1073=)
n.3370G>A
c.3216G>A (p.Ala1072=)
c.3390G>A (p.Ala1130=)
 gnomAD v4 COSMIC
7g.41965681G>ACA4230372GLI3c.3392C>T (p.Ala1131Val)
c.3218C>T (p.Ala1073Val)
n.3369C>T
c.3215C>T (p.Ala1072Val)
c.3389C>T (p.Ala1130Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41965681G>CCA367318136GLI3c.3392C>G (p.Ala1131Gly)
c.3218C>G (p.Ala1073Gly)
n.3369C>G
c.3215C>G (p.Ala1072Gly)
c.3389C>G (p.Ala1130Gly)
7g.41965681G=CA1702660878GLI3c.3392C= (p.Ala1131=)
c.3218C= (p.Ala1073=)
n.3369C=
c.3215C= (p.Ala1072=)
c.3389C= (p.Ala1130=)
7g.41965681G>TCA367318134GLI3c.3392C>A (p.Ala1131Glu)
c.3218C>A (p.Ala1073Glu)
n.3369C>A
c.3215C>A (p.Ala1072Glu)
c.3389C>A (p.Ala1130Glu)
7g.41965682C>ACA367318139GLI3c.3391G>T (p.Ala1131Ser)
c.3217G>T (p.Ala1073Ser)
n.3368G>T
c.3214G>T (p.Ala1072Ser)
c.3388G>T (p.Ala1130Ser)
7g.41965682C=CA1702660879GLI3c.3391G= (p.Ala1131=)
c.3217G= (p.Ala1073=)
n.3368G=
c.3214G= (p.Ala1072=)
c.3388G= (p.Ala1130=)
7g.41965682C>GCA367318143GLI3c.3391G>C (p.Ala1131Pro)
c.3217G>C (p.Ala1073Pro)
n.3368G>C
c.3214G>C (p.Ala1072Pro)
c.3388G>C (p.Ala1130Pro)
 dbSNP gnomAD v3 gnomAD v4
7g.41965682C>TCA367318141GLI3c.3391G>A (p.Ala1131Thr)
c.3217G>A (p.Ala1073Thr)
n.3368G>A
c.3214G>A (p.Ala1072Thr)
c.3388G>A (p.Ala1130Thr)
 dbSNP gnomAD v4
7g.41965683G>ACA4230373GLI3c.3390C>T (p.Asp1130=)
c.3216C>T (p.Asp1072=)
n.3367C>T
c.3213C>T (p.Asp1071=)
c.3387C>T (p.Asp1129=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41965683G>CCA367318150GLI3c.3390C>G (p.Asp1130Glu)
c.3216C>G (p.Asp1072Glu)
n.3367C>G
c.3213C>G (p.Asp1071Glu)
c.3387C>G (p.Asp1129Glu)
7g.41965683G=CA1702660880GLI3c.3390C= (p.Asp1130=)
c.3216C= (p.Asp1072=)
n.3367C=
c.3213C= (p.Asp1071=)
c.3387C= (p.Asp1129=)
7g.41965683G>TCA367318148GLI3c.3390C>A (p.Asp1130Glu)
c.3216C>A (p.Asp1072Glu)
n.3367C>A
c.3213C>A (p.Asp1071Glu)
c.3387C>A (p.Asp1129Glu)
 gnomAD v4
7g.41965684T>ACA367318154GLI3c.3389A>T (p.Asp1130Val)
c.3215A>T (p.Asp1072Val)
n.3366A>T
c.3212A>T (p.Asp1071Val)
c.3386A>T (p.Asp1129Val)
7g.41965684T>CCA367318158GLI3c.3389A>G (p.Asp1130Gly)
c.3215A>G (p.Asp1072Gly)
n.3366A>G
c.3212A>G (p.Asp1071Gly)
c.3386A>G (p.Asp1129Gly)
7g.41965684T>GCA367318156GLI3c.3389A>C (p.Asp1130Ala)
c.3215A>C (p.Asp1072Ala)
n.3366A>C
c.3212A>C (p.Asp1071Ala)
c.3386A>C (p.Asp1129Ala)
7g.41965685C>ACA367318161GLI3c.3388G>T (p.Asp1130Tyr)
c.3214G>T (p.Asp1072Tyr)
n.3365G>T
c.3211G>T (p.Asp1071Tyr)
c.3385G>T (p.Asp1129Tyr)
7g.41965685C=CA1702660882GLI3c.3388G= (p.Asp1130=)
c.3214G= (p.Asp1072=)
n.3365G=
c.3211G= (p.Asp1071=)
c.3385G= (p.Asp1129=)
7g.41965685C>GCA367318163GLI3c.3388G>C (p.Asp1130His)
c.3214G>C (p.Asp1072His)
n.3365G>C
c.3211G>C (p.Asp1071His)
c.3385G>C (p.Asp1129His)
 dbSNP
7g.41965685C>TCA367318165GLI3c.3388G>A (p.Asp1130Asn)
c.3214G>A (p.Asp1072Asn)
n.3365G>A
c.3211G>A (p.Asp1071Asn)
c.3385G>A (p.Asp1129Asn)
7g.41965685_41965687delinsCAACA1702660881GLI3c.3386_3388delinsTTG (p.Phe1129=)
c.3212_3214delinsTTG (p.Phe1071=)
n.3363_3365delinsTTG
c.3209_3211delinsTTG (p.Phe1070=)
c.3383_3385delinsTTG (p.Phe1128=)
7g.41965686A>CCA367318169GLI3c.3387T>G (p.Phe1129Leu)
c.3213T>G (p.Phe1071Leu)
n.3364T>G
c.3210T>G (p.Phe1070Leu)
c.3384T>G (p.Phe1128Leu)
7g.41965686A>GCA454662305GLI3c.3387T>C (p.Phe1129=)
c.3213T>C (p.Phe1071=)
n.3364T>C
c.3210T>C (p.Phe1070=)
c.3384T>C (p.Phe1128=)
7g.41965686A>TCA367318171GLI3c.3387T>A (p.Phe1129Leu)
c.3213T>A (p.Phe1071Leu)
n.3364T>A
c.3210T>A (p.Phe1070Leu)
c.3384T>A (p.Phe1128Leu)
7g.41965688delCA156904137GLI3c.3387del (p.Phe1129LeufsTer?)
c.3213del (p.Phe1071LeufsTer?)
n.3364del
c.3210del (p.Phe1070LeufsTer?)
c.3384del (p.Phe1128LeufsTer?)
 dbSNP
7g.41965687_41965688delCA342942GLI3c.3386_3387del (p.Phe1129Ter)
c.3212_3213del (p.Phe1071Ter)
n.3363_3364del
c.3209_3210del (p.Phe1070Ter)
c.3383_3384del (p.Phe1128Ter)
 ClinVar dbSNP
7g.41965687A>CCA367318179GLI3c.3386T>G (p.Phe1129Cys)
c.3212T>G (p.Phe1071Cys)
n.3363T>G
c.3209T>G (p.Phe1070Cys)
c.3383T>G (p.Phe1128Cys)
7g.41965687A>GCA367318175GLI3c.3386T>C (p.Phe1129Ser)
c.3212T>C (p.Phe1071Ser)
n.3363T>C
c.3209T>C (p.Phe1070Ser)
c.3383T>C (p.Phe1128Ser)
 ClinVar
7g.41965687A>TCA367318177GLI3c.3386T>A (p.Phe1129Tyr)
c.3212T>A (p.Phe1071Tyr)
n.3363T>A
c.3209T>A (p.Phe1070Tyr)
c.3383T>A (p.Phe1128Tyr)
7g.41965688A=CA1702660883GLI3c.3385T= (p.Phe1129=)
c.3211T= (p.Phe1071=)
n.3362T=
c.3208T= (p.Phe1070=)
c.3382T= (p.Phe1128=)
7g.41965688A>CCA367318182GLI3c.3385T>G (p.Phe1129Val)
c.3211T>G (p.Phe1071Val)
n.3362T>G
c.3208T>G (p.Phe1070Val)
c.3382T>G (p.Phe1128Val)
 gnomAD v4
7g.41965688A>GCA156904146GLI3c.3385T>C (p.Phe1129Leu)
c.3211T>C (p.Phe1071Leu)
n.3362T>C
c.3208T>C (p.Phe1070Leu)
c.3382T>C (p.Phe1128Leu)
 dbSNP
7g.41965688A>TCA367318186GLI3c.3385T>A (p.Phe1129Ile)
c.3211T>A (p.Phe1071Ile)
n.3362T>A
c.3208T>A (p.Phe1070Ile)
c.3382T>A (p.Phe1128Ile)
7g.41965689G>ACA454662310GLI3c.3384C>T (p.Asp1128=)
c.3210C>T (p.Asp1070=)
n.3361C>T
c.3207C>T (p.Asp1069=)
c.3381C>T (p.Asp1127=)
 dbSNP gnomAD v2 gnomAD v4
7g.41965689G>CCA367318187GLI3c.3384C>G (p.Asp1128Glu)
c.3210C>G (p.Asp1070Glu)
n.3361C>G
c.3207C>G (p.Asp1069Glu)
c.3381C>G (p.Asp1127Glu)
7g.41965689G=CA1702660884GLI3c.3384C= (p.Asp1128=)
c.3210C= (p.Asp1070=)
n.3361C=
c.3207C= (p.Asp1069=)
c.3381C= (p.Asp1127=)
7g.41965689G>TCA367318189GLI3c.3384C>A (p.Asp1128Glu)
c.3210C>A (p.Asp1070Glu)
n.3361C>A
c.3207C>A (p.Asp1069Glu)
c.3381C>A (p.Asp1127Glu)
7g.41965690delCA2695207638GLI3c.3383del (p.Asp1128AlafsTer?)
c.3209del (p.Asp1070AlafsTer?)
n.3360del
c.3206del (p.Asp1069AlafsTer?)
c.3380del (p.Asp1127AlafsTer?)
7g.41965690T>ACA367318192GLI3c.3383A>T (p.Asp1128Val)
c.3209A>T (p.Asp1070Val)
n.3360A>T
c.3206A>T (p.Asp1069Val)
c.3380A>T (p.Asp1127Val)
7g.41965690T>CCA367318195GLI3c.3383A>G (p.Asp1128Gly)
c.3209A>G (p.Asp1070Gly)
n.3360A>G
c.3206A>G (p.Asp1069Gly)
c.3380A>G (p.Asp1127Gly)
 gnomAD v4
7g.41965690T>GCA367318193GLI3c.3383A>C (p.Asp1128Ala)
c.3209A>C (p.Asp1070Ala)
n.3360A>C
c.3206A>C (p.Asp1069Ala)
c.3380A>C (p.Asp1127Ala)
7g.41965691C>ACA367318199GLI3c.3382G>T (p.Asp1128Tyr)
c.3208G>T (p.Asp1070Tyr)
n.3359G>T
c.3205G>T (p.Asp1069Tyr)
c.3379G>T (p.Asp1127Tyr)
7g.41965691C>GCA367318201GLI3c.3382G>C (p.Asp1128His)
c.3208G>C (p.Asp1070His)
n.3359G>C
c.3205G>C (p.Asp1069His)
c.3379G>C (p.Asp1127His)
7g.41965691C>TCA367318204GLI3c.3382G>A (p.Asp1128Asn)
c.3208G>A (p.Asp1070Asn)
n.3359G>A
c.3205G>A (p.Asp1069Asn)
c.3379G>A (p.Asp1127Asn)
7g.41965692A=CA1702660885GLI3c.3381T= (p.Gly1127=)
c.3207T= (p.Gly1069=)
n.3358T=
c.3204T= (p.Gly1068=)
c.3378T= (p.Gly1126=)
7g.41965692A>CCA454662316GLI3c.3381T>G (p.Gly1127=)
c.3207T>G (p.Gly1069=)
n.3358T>G
c.3204T>G (p.Gly1068=)
c.3378T>G (p.Gly1126=)
7g.41965692A>GCA454662317GLI3c.3381T>C (p.Gly1127=)
c.3207T>C (p.Gly1069=)
n.3358T>C
c.3204T>C (p.Gly1068=)
c.3378T>C (p.Gly1126=)
7g.41965692A>TCA4230374GLI3c.3381T>A (p.Gly1127=)
c.3207T>A (p.Gly1069=)
n.3358T>A
c.3204T>A (p.Gly1068=)
c.3378T>A (p.Gly1126=)
 dbSNP ExAC gnomAD v2
7g.41965693C>ACA367318208GLI3c.3380G>T (p.Gly1127Val)
c.3206G>T (p.Gly1069Val)
n.3357G>T
c.3203G>T (p.Gly1068Val)
c.3377G>T (p.Gly1126Val)
7g.41965693C>GCA367318209GLI3c.3380G>C (p.Gly1127Ala)
c.3206G>C (p.Gly1069Ala)
n.3357G>C
c.3203G>C (p.Gly1068Ala)
c.3377G>C (p.Gly1126Ala)
7g.41965693C>TCA367318211GLI3c.3380G>A (p.Gly1127Asp)
c.3206G>A (p.Gly1069Asp)
n.3357G>A
c.3203G>A (p.Gly1068Asp)
c.3377G>A (p.Gly1126Asp)
7g.41965694C>ACA4230376GLI3c.3379G>T (p.Gly1127Cys)
c.3205G>T (p.Gly1069Cys)
n.3356G>T
c.3202G>T (p.Gly1068Cys)
c.3376G>T (p.Gly1126Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965694C=CA1702660886GLI3c.3379G= (p.Gly1127=)
c.3205G= (p.Gly1069=)
n.3356G=
c.3202G= (p.Gly1068=)
c.3376G= (p.Gly1126=)
7g.41965694C>GCA367318215GLI3c.3379G>C (p.Gly1127Arg)
c.3205G>C (p.Gly1069Arg)
n.3356G>C
c.3202G>C (p.Gly1068Arg)
c.3376G>C (p.Gly1126Arg)
 ClinVar
7g.41965694C>TCA4230375GLI3c.3379G>A (p.Gly1127Ser)
c.3205G>A (p.Gly1069Ser)
n.3356G>A
c.3202G>A (p.Gly1068Ser)
c.3376G>A (p.Gly1126Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965695G>ACA4230377GLI3c.3378C>T (p.Pro1126=)
c.3204C>T (p.Pro1068=)
n.3355C>T
c.3201C>T (p.Pro1067=)
c.3375C>T (p.Pro1125=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41965695G>CCA156904178GLI3c.3378C>G (p.Pro1126=)
c.3204C>G (p.Pro1068=)
n.3355C>G
c.3201C>G (p.Pro1067=)
c.3375C>G (p.Pro1125=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41965695G=CA1702660887GLI3c.3378C= (p.Pro1126=)
c.3204C= (p.Pro1068=)
n.3355C=
c.3201C= (p.Pro1067=)
c.3375C= (p.Pro1125=)
7g.41965695G>TCA454662325GLI3c.3378C>A (p.Pro1126=)
c.3204C>A (p.Pro1068=)
n.3355C>A
c.3201C>A (p.Pro1067=)
c.3375C>A (p.Pro1125=)
 gnomAD v3 gnomAD v4
7g.41965697delCA2695198481GLI3c.3378del (p.Gly1127ValfsTer?)
c.3204del (p.Gly1069ValfsTer?)
n.3355del
c.3201del (p.Gly1068ValfsTer?)
c.3375del (p.Gly1126ValfsTer?)
 ClinVar
7g.41965696G>ACA367318221GLI3c.3377C>T (p.Pro1126Leu)
c.3203C>T (p.Pro1068Leu)
n.3354C>T
c.3200C>T (p.Pro1067Leu)
c.3374C>T (p.Pro1125Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41965696G>CCA367318225GLI3c.3377C>G (p.Pro1126Arg)
c.3203C>G (p.Pro1068Arg)
n.3354C>G
c.3200C>G (p.Pro1067Arg)
c.3374C>G (p.Pro1125Arg)
7g.41965696G=CA1702660888GLI3c.3377C= (p.Pro1126=)
c.3203C= (p.Pro1068=)
n.3354C=
c.3200C= (p.Pro1067=)
c.3374C= (p.Pro1125=)
7g.41965696G>TCA367318223GLI3c.3377C>A (p.Pro1126His)
c.3203C>A (p.Pro1068His)
n.3354C>A
c.3200C>A (p.Pro1067His)
c.3374C>A (p.Pro1125His)
7g.41965697G>ACA367318229GLI3c.3376C>T (p.Pro1126Ser)
c.3202C>T (p.Pro1068Ser)
n.3353C>T
c.3199C>T (p.Pro1067Ser)
c.3373C>T (p.Pro1125Ser)
7g.41965697G>CCA367318231GLI3c.3376C>G (p.Pro1126Ala)
c.3202C>G (p.Pro1068Ala)
n.3353C>G
c.3199C>G (p.Pro1067Ala)
c.3373C>G (p.Pro1125Ala)
 gnomAD v4
7g.41965697G>TCA367318233GLI3c.3376C>A (p.Pro1126Thr)
c.3202C>A (p.Pro1068Thr)
n.3353C>A
c.3199C>A (p.Pro1067Thr)
c.3373C>A (p.Pro1125Thr)
7g.41965698C>ACA454662329GLI3c.3375G>T (p.Gly1125=)
c.3201G>T (p.Gly1067=)
n.3352G>T
c.3198G>T (p.Gly1066=)
c.3372G>T (p.Gly1124=)
7g.41965698C=CA1702660889GLI3c.3375G= (p.Gly1125=)
c.3201G= (p.Gly1067=)
n.3352G=
c.3198G= (p.Gly1066=)
c.3372G= (p.Gly1124=)
7g.41965698C>GCA454662331GLI3c.3375G>C (p.Gly1125=)
c.3201G>C (p.Gly1067=)
n.3352G>C
c.3198G>C (p.Gly1066=)
c.3372G>C (p.Gly1124=)
7g.41965698C>TCA454662334GLI3c.3375G>A (p.Gly1125=)
c.3201G>A (p.Gly1067=)
n.3352G>A
c.3198G>A (p.Gly1066=)
c.3372G>A (p.Gly1124=)
 dbSNP gnomAD v3 gnomAD v4
7g.41965699C>ACA4230378GLI3c.3374G>T (p.Gly1125Val)
c.3200G>T (p.Gly1067Val)
n.3351G>T
c.3197G>T (p.Gly1066Val)
c.3371G>T (p.Gly1124Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41965699C=CA1702660890GLI3c.3374G= (p.Gly1125=)
c.3200G= (p.Gly1067=)
n.3351G=
c.3197G= (p.Gly1066=)
c.3371G= (p.Gly1124=)
7g.41965699C>GCA367318237GLI3c.3374G>C (p.Gly1125Ala)
c.3200G>C (p.Gly1067Ala)
n.3351G>C
c.3197G>C (p.Gly1066Ala)
c.3371G>C (p.Gly1124Ala)
7g.41965699C>TCA367318239GLI3c.3374G>A (p.Gly1125Glu)
c.3200G>A (p.Gly1067Glu)
n.3351G>A
c.3197G>A (p.Gly1066Glu)
c.3371G>A (p.Gly1124Glu)
 ClinVar
7g.41965700C>ACA367318241GLI3c.3373G>T (p.Gly1125Trp)
c.3199G>T (p.Gly1067Trp)
n.3350G>T
c.3196G>T (p.Gly1066Trp)
c.3370G>T (p.Gly1124Trp)
7g.41965700C=CA1702660891GLI3c.3373G= (p.Gly1125=)
c.3199G= (p.Gly1067=)
n.3350G=
c.3196G= (p.Gly1066=)
c.3370G= (p.Gly1124=)
7g.41965700C>GCA4230379GLI3c.3373G>C (p.Gly1125Arg)
c.3199G>C (p.Gly1067Arg)
n.3350G>C
c.3196G>C (p.Gly1066Arg)
c.3370G>C (p.Gly1124Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965700C>TCA367318244GLI3c.3373G>A (p.Gly1125Arg)
c.3199G>A (p.Gly1067Arg)
n.3350G>A
c.3196G>A (p.Gly1066Arg)
c.3370G>A (p.Gly1124Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.41965701G>ACA156904188GLI3c.3372C>T (p.His1124=)
c.3198C>T (p.His1066=)
n.3349C>T
c.3195C>T (p.His1065=)
c.3369C>T (p.His1123=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41965701G>CCA367318249GLI3c.3372C>G (p.His1124Gln)
c.3198C>G (p.His1066Gln)
n.3349C>G
c.3195C>G (p.His1065Gln)
c.3369C>G (p.His1123Gln)
7g.41965701G=CA1702660892GLI3c.3372C= (p.His1124=)
c.3198C= (p.His1066=)
n.3349C=
c.3195C= (p.His1065=)
c.3369C= (p.His1123=)
7g.41965701G>TCA4230380GLI3c.3372C>A (p.His1124Gln)
c.3198C>A (p.His1066Gln)
n.3349C>A
c.3195C>A (p.His1065Gln)
c.3369C>A (p.His1123Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965702T>ACA4230381GLI3c.3371A>T (p.His1124Leu)
c.3197A>T (p.His1066Leu)
n.3348A>T
c.3194A>T (p.His1065Leu)
c.3368A>T (p.His1123Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965702T>CCA367318257GLI3c.3371A>G (p.His1124Arg)
c.3197A>G (p.His1066Arg)
n.3348A>G
c.3194A>G (p.His1065Arg)
c.3368A>G (p.His1123Arg)
7g.41965702T>GCA367318254GLI3c.3371A>C (p.His1124Pro)
c.3197A>C (p.His1066Pro)
n.3348A>C
c.3194A>C (p.His1065Pro)
c.3368A>C (p.His1123Pro)
7g.41965702T=CA1702660893GLI3c.3371A= (p.His1124=)
c.3197A= (p.His1066=)
n.3348A=
c.3194A= (p.His1065=)
c.3368A= (p.His1123=)
7g.41965703G>ACA367318260GLI3c.3370C>T (p.His1124Tyr)
c.3196C>T (p.His1066Tyr)
n.3347C>T
c.3193C>T (p.His1065Tyr)
c.3367C>T (p.His1123Tyr)
 COSMIC
7g.41965703G>CCA367318262GLI3c.3370C>G (p.His1124Asp)
c.3196C>G (p.His1066Asp)
n.3347C>G
c.3193C>G (p.His1065Asp)
c.3367C>G (p.His1123Asp)
7g.41965703G>TCA367318264GLI3c.3370C>A (p.His1124Asn)
c.3196C>A (p.His1066Asn)
n.3347C>A
c.3193C>A (p.His1065Asn)
c.3367C>A (p.His1123Asn)
7g.41965706dupCA2695207639GLI3c.3370dup (p.His1124ProfsTer5)
c.3196dup (p.His1066ProfsTer5)
n.3347dup
c.3193dup (p.His1065ProfsTer5)
c.3367dup (p.His1123ProfsTer5)
7g.41965704G>ACA4230382GLI3c.3369C>T (p.Pro1123=)
c.3195C>T (p.Pro1065=)
n.3346C>T
c.3192C>T (p.Pro1064=)
c.3366C>T (p.Pro1122=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965704G>CCA454662342GLI3c.3369C>G (p.Pro1123=)
c.3195C>G (p.Pro1065=)
n.3346C>G
c.3192C>G (p.Pro1064=)
c.3366C>G (p.Pro1122=)
7g.41965704G=CA1702660894GLI3c.3369C= (p.Pro1123=)
c.3195C= (p.Pro1065=)
n.3346C=
c.3192C= (p.Pro1064=)
c.3366C= (p.Pro1122=)
7g.41965704G>TCA454662341GLI3c.3369C>A (p.Pro1123=)
c.3195C>A (p.Pro1065=)
n.3346C>A
c.3192C>A (p.Pro1064=)
c.3366C>A (p.Pro1122=)
7g.41965705G>ACA4230383GLI3c.3368C>T (p.Pro1123Leu)
c.3194C>T (p.Pro1065Leu)
n.3345C>T
c.3191C>T (p.Pro1064Leu)
c.3365C>T (p.Pro1122Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965705G>CCA367318271GLI3c.3368C>G (p.Pro1123Arg)
c.3194C>G (p.Pro1065Arg)
n.3345C>G
c.3191C>G (p.Pro1064Arg)
c.3365C>G (p.Pro1122Arg)
7g.41965705G=CA1702660895GLI3c.3368C= (p.Pro1123=)
c.3194C= (p.Pro1065=)
n.3345C=
c.3191C= (p.Pro1064=)
c.3365C= (p.Pro1122=)
7g.41965705G>TCA367318273GLI3c.3368C>A (p.Pro1123His)
c.3194C>A (p.Pro1065His)
n.3345C>A
c.3191C>A (p.Pro1064His)
c.3365C>A (p.Pro1122His)
7g.41965706G>ACA367318275GLI3c.3367C>T (p.Pro1123Ser)
c.3193C>T (p.Pro1065Ser)
n.3344C>T
c.3190C>T (p.Pro1064Ser)
c.3364C>T (p.Pro1122Ser)
7g.41965706G>CCA367318278GLI3c.3367C>G (p.Pro1123Ala)
c.3193C>G (p.Pro1065Ala)
n.3344C>G
c.3190C>G (p.Pro1064Ala)
c.3364C>G (p.Pro1122Ala)
7g.41965706G=CA1702660896GLI3c.3367C= (p.Pro1123=)
c.3193C= (p.Pro1065=)
n.3344C=
c.3190C= (p.Pro1064=)
c.3364C= (p.Pro1122=)
7g.41965706G>TCA367318280GLI3c.3367C>A (p.Pro1123Thr)
c.3193C>A (p.Pro1065Thr)
n.3344C>A
c.3190C>A (p.Pro1064Thr)
c.3364C>A (p.Pro1122Thr)
 dbSNP gnomAD v4
7g.41965707C>ACA454662347GLI3c.3366G>T (p.Val1122=)
c.3192G>T (p.Val1064=)
n.3343G>T
c.3189G>T (p.Val1063=)
c.3363G>T (p.Val1121=)
 dbSNP gnomAD v4
7g.41965707C>GCA454662348GLI3c.3366G>C (p.Val1122=)
c.3192G>C (p.Val1064=)
n.3343G>C
c.3189G>C (p.Val1063=)
c.3363G>C (p.Val1121=)
7g.41965707C>TCA454662349GLI3c.3366G>A (p.Val1122=)
c.3192G>A (p.Val1064=)
n.3343G>A
c.3189G>A (p.Val1063=)
c.3363G>A (p.Val1121=)
7g.41965708_41965709delCA2499218885GLI3c.3365_3366del (p.Val1122AlafsTer6)
c.3191_3192del (p.Val1064AlafsTer6)
n.3342_3343del
c.3188_3189del (p.Val1063AlafsTer6)
c.3362_3363del (p.Val1121AlafsTer6)
 ClinVar dbSNP
7g.41965708A>CCA367318285GLI3c.3365T>G (p.Val1122Gly)
c.3191T>G (p.Val1064Gly)
n.3342T>G
c.3188T>G (p.Val1063Gly)
c.3362T>G (p.Val1121Gly)
7g.41965708A>GCA367318287GLI3c.3365T>C (p.Val1122Ala)
c.3191T>C (p.Val1064Ala)
n.3342T>C
c.3188T>C (p.Val1063Ala)
c.3362T>C (p.Val1121Ala)
7g.41965708A>TCA367318283GLI3c.3365T>A (p.Val1122Glu)
c.3191T>A (p.Val1064Glu)
n.3342T>A
c.3188T>A (p.Val1063Glu)
c.3362T>A (p.Val1121Glu)
7g.41965709C>ACA367318293GLI3c.3364G>T (p.Val1122Leu)
c.3190G>T (p.Val1064Leu)
n.3341G>T
c.3187G>T (p.Val1063Leu)
c.3361G>T (p.Val1121Leu)
7g.41965709C>GCA367318289GLI3c.3364G>C (p.Val1122Leu)
c.3190G>C (p.Val1064Leu)
n.3341G>C
c.3187G>C (p.Val1063Leu)
c.3361G>C (p.Val1121Leu)
7g.41965709C>TCA367318291GLI3c.3364G>A (p.Val1122Met)
c.3190G>A (p.Val1064Met)
n.3341G>A
c.3187G>A (p.Val1063Met)
c.3361G>A (p.Val1121Met)
7g.41965710T>ACA367318295GLI3c.3363A>T (p.Lys1121Asn)
c.3189A>T (p.Lys1063Asn)
n.3340A>T
c.3186A>T (p.Lys1062Asn)
c.3360A>T (p.Lys1120Asn)
7g.41965710T>CCA454662353GLI3c.3363A>G (p.Lys1121=)
c.3189A>G (p.Lys1063=)
n.3340A>G
c.3186A>G (p.Lys1062=)
c.3360A>G (p.Lys1120=)
 dbSNP gnomAD v4
7g.41965710T>GCA367318298GLI3c.3363A>C (p.Lys1121Asn)
c.3189A>C (p.Lys1063Asn)
n.3340A>C
c.3186A>C (p.Lys1062Asn)
c.3360A>C (p.Lys1120Asn)
 dbSNP gnomAD v3 gnomAD v4
7g.41965710T=CA1702660897GLI3c.3363A= (p.Lys1121=)
c.3189A= (p.Lys1063=)
n.3340A=
c.3186A= (p.Lys1062=)
c.3360A= (p.Lys1120=)
7g.41965710_41965711delinsCGCA1702660899GLI3c.3362_3363delinsCG (p.Lys1121Thr)
c.3188_3189delinsCG (p.Lys1063Thr)
n.3339_3340delinsCG
c.3185_3186delinsCG (p.Lys1062Thr)
c.3359_3360delinsCG (p.Lys1120Thr)
 ClinVar dbSNP
7g.41965710_41965711delinsTTCA1702660898GLI3c.3362_3363delinsAA (p.Lys1121=)
c.3188_3189delinsAA (p.Lys1063=)
n.3339_3340delinsAA
c.3185_3186delinsAA (p.Lys1062=)
c.3359_3360delinsAA (p.Lys1120=)
7g.41965711T>ACA367318300GLI3c.3362A>T (p.Lys1121Ile)
c.3188A>T (p.Lys1063Ile)
n.3339A>T
c.3185A>T (p.Lys1062Ile)
c.3359A>T (p.Lys1120Ile)
7g.41965711T>CCA367318302GLI3c.3362A>G (p.Lys1121Arg)
c.3188A>G (p.Lys1063Arg)
n.3339A>G
c.3185A>G (p.Lys1062Arg)
c.3359A>G (p.Lys1120Arg)
7g.41965711T>GCA367318303GLI3c.3362A>C (p.Lys1121Thr)
c.3188A>C (p.Lys1063Thr)
n.3339A>C
c.3185A>C (p.Lys1062Thr)
c.3359A>C (p.Lys1120Thr)
7g.41965712T>ACA367318307GLI3c.3361A>T (p.Lys1121Ter)
c.3187A>T (p.Lys1063Ter)
n.3338A>T
c.3184A>T (p.Lys1062Ter)
c.3358A>T (p.Lys1120Ter)
7g.41965712T>CCA367318309GLI3c.3361A>G (p.Lys1121Glu)
c.3187A>G (p.Lys1063Glu)
n.3338A>G
c.3184A>G (p.Lys1062Glu)
c.3358A>G (p.Lys1120Glu)
7g.41965712T>GCA367318311GLI3c.3361A>C (p.Lys1121Gln)
c.3187A>C (p.Lys1063Gln)
n.3338A>C
c.3184A>C (p.Lys1062Gln)
c.3358A>C (p.Lys1120Gln)
7g.41965713G>ACA454662358GLI3c.3360C>T (p.Ser1120=)
c.3186C>T (p.Ser1062=)
n.3337C>T
c.3183C>T (p.Ser1061=)
c.3357C>T (p.Ser1119=)
 gnomAD v4
7g.41965713G>CCA367318314GLI3c.3360C>G (p.Ser1120Arg)
c.3186C>G (p.Ser1062Arg)
n.3337C>G
c.3183C>G (p.Ser1061Arg)
c.3357C>G (p.Ser1119Arg)
 gnomAD v4
7g.41965713G>TCA367318316GLI3c.3360C>A (p.Ser1120Arg)
c.3186C>A (p.Ser1062Arg)
n.3337C>A
c.3183C>A (p.Ser1061Arg)
c.3357C>A (p.Ser1119Arg)
 gnomAD v4
7g.41965714C>ACA367318322GLI3c.3359G>T (p.Ser1120Ile)
c.3185G>T (p.Ser1062Ile)
n.3336G>T
c.3182G>T (p.Ser1061Ile)
c.3356G>T (p.Ser1119Ile)
7g.41965714C>GCA367318319GLI3c.3359G>C (p.Ser1120Thr)
c.3185G>C (p.Ser1062Thr)
n.3336G>C
c.3182G>C (p.Ser1061Thr)
c.3356G>C (p.Ser1119Thr)
7g.41965714C>TCA367318320GLI3c.3359G>A (p.Ser1120Asn)
c.3185G>A (p.Ser1062Asn)
n.3336G>A
c.3182G>A (p.Ser1061Asn)
c.3356G>A (p.Ser1119Asn)
7g.41965715T>ACA367318325GLI3c.3358A>T (p.Ser1120Cys)
c.3184A>T (p.Ser1062Cys)
n.3335A>T
c.3181A>T (p.Ser1061Cys)
c.3355A>T (p.Ser1119Cys)
7g.41965715T>CCA367318327GLI3c.3358A>G (p.Ser1120Gly)
c.3184A>G (p.Ser1062Gly)
n.3335A>G
c.3181A>G (p.Ser1061Gly)
c.3355A>G (p.Ser1119Gly)
 ClinVar dbSNP gnomAD v4
7g.41965715T>GCA367318329GLI3c.3358A>C (p.Ser1120Arg)
c.3184A>C (p.Ser1062Arg)
n.3335A>C
c.3181A>C (p.Ser1061Arg)
c.3355A>C (p.Ser1119Arg)
7g.41965715T=CA1702660900GLI3c.3358A= (p.Ser1120=)
c.3184A= (p.Ser1062=)
n.3335A=
c.3181A= (p.Ser1061=)
c.3355A= (p.Ser1119=)
7g.41965716G>ACA454662368GLI3c.3357C>T (p.Asp1119=)
c.3183C>T (p.Asp1061=)
n.3334C>T
c.3180C>T (p.Asp1060=)
c.3354C>T (p.Asp1118=)
 dbSNP gnomAD v4
7g.41965716G>CCA367318333GLI3c.3357C>G (p.Asp1119Glu)
c.3183C>G (p.Asp1061Glu)
n.3334C>G
c.3180C>G (p.Asp1060Glu)
c.3354C>G (p.Asp1118Glu)
7g.41965716G=CA1702660901GLI3c.3357C= (p.Asp1119=)
c.3183C= (p.Asp1061=)
n.3334C=
c.3180C= (p.Asp1060=)
c.3354C= (p.Asp1118=)
7g.41965716G>TCA367318334GLI3c.3357C>A (p.Asp1119Glu)
c.3183C>A (p.Asp1061Glu)
n.3334C>A
c.3180C>A (p.Asp1060Glu)
c.3354C>A (p.Asp1118Glu)
7g.41965717T>ACA367318337GLI3c.3356A>T (p.Asp1119Val)
c.3182A>T (p.Asp1061Val)
n.3333A>T
c.3179A>T (p.Asp1060Val)
c.3353A>T (p.Asp1118Val)
7g.41965717T>CCA367318338GLI3c.3356A>G (p.Asp1119Gly)
c.3182A>G (p.Asp1061Gly)
n.3333A>G
c.3179A>G (p.Asp1060Gly)
c.3353A>G (p.Asp1118Gly)
 gnomAD v4
7g.41965717T>GCA367318341GLI3c.3356A>C (p.Asp1119Ala)
c.3182A>C (p.Asp1061Ala)
n.3333A>C
c.3179A>C (p.Asp1060Ala)
c.3353A>C (p.Asp1118Ala)
 dbSNP gnomAD v2 gnomAD v4
7g.41965717T=CA1702660902GLI3c.3356A= (p.Asp1119=)
c.3182A= (p.Asp1061=)
n.3333A=
c.3179A= (p.Asp1060=)
c.3353A= (p.Asp1118=)
7g.41965718C>ACA367318344GLI3c.3355G>T (p.Asp1119Tyr)
c.3181G>T (p.Asp1061Tyr)
n.3332G>T
c.3178G>T (p.Asp1060Tyr)
c.3352G>T (p.Asp1118Tyr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.41965718C=CA1702660903GLI3c.3355G= (p.Asp1119=)
c.3181G= (p.Asp1061=)
n.3332G=
c.3178G= (p.Asp1060=)
c.3352G= (p.Asp1118=)
7g.41965718C>GCA367318346GLI3c.3355G>C (p.Asp1119His)
c.3181G>C (p.Asp1061His)
n.3332G>C
c.3178G>C (p.Asp1060His)
c.3352G>C (p.Asp1118His)
 gnomAD v4
7g.41965718C>TCA4230384GLI3c.3355G>A (p.Asp1119Asn)
c.3181G>A (p.Asp1061Asn)
n.3332G>A
c.3178G>A (p.Asp1060Asn)
c.3352G>A (p.Asp1118Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41965719G>ACA4230385GLI3c.3354C>T (p.Asp1118=)
c.3180C>T (p.Asp1060=)
n.3331C>T
c.3177C>T (p.Asp1059=)
c.3351C>T (p.Asp1117=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965719G>CCA367318351GLI3c.3354C>G (p.Asp1118Glu)
c.3180C>G (p.Asp1060Glu)
n.3331C>G
c.3177C>G (p.Asp1059Glu)
c.3351C>G (p.Asp1117Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41965719G=CA1702660904GLI3c.3354C= (p.Asp1118=)
c.3180C= (p.Asp1060=)
n.3331C=
c.3177C= (p.Asp1059=)
c.3351C= (p.Asp1117=)
7g.41965719G>TCA4230386GLI3c.3354C>A (p.Asp1118Glu)
c.3180C>A (p.Asp1060Glu)
n.3331C>A
c.3177C>A (p.Asp1059Glu)
c.3351C>A (p.Asp1117Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965720T>ACA367318352GLI3c.3353A>T (p.Asp1118Val)
c.3179A>T (p.Asp1060Val)
n.3330A>T
c.3176A>T (p.Asp1059Val)
c.3350A>T (p.Asp1117Val)
 gnomAD v4
7g.41965720T>CCA367318354GLI3c.3353A>G (p.Asp1118Gly)
c.3179A>G (p.Asp1060Gly)
n.3330A>G
c.3176A>G (p.Asp1059Gly)
c.3350A>G (p.Asp1117Gly)
7g.41965720T>GCA367318357GLI3c.3353A>C (p.Asp1118Ala)
c.3179A>C (p.Asp1060Ala)
n.3330A>C
c.3176A>C (p.Asp1059Ala)
c.3350A>C (p.Asp1117Ala)
7g.41965721C>ACA367318359GLI3c.3352G>T (p.Asp1118Tyr)
c.3178G>T (p.Asp1060Tyr)
n.3329G>T
c.3175G>T (p.Asp1059Tyr)
c.3349G>T (p.Asp1117Tyr)
7g.41965721C>GCA367318362GLI3c.3352G>C (p.Asp1118His)
c.3178G>C (p.Asp1060His)
n.3329G>C
c.3175G>C (p.Asp1059His)
c.3349G>C (p.Asp1117His)
7g.41965721C>TCA367318364GLI3c.3352G>A (p.Asp1118Asn)
c.3178G>A (p.Asp1060Asn)
n.3329G>A
c.3175G>A (p.Asp1059Asn)
c.3349G>A (p.Asp1117Asn)
7g.41965722C>ACA454662377GLI3c.3351G>T (p.Pro1117=)
c.3177G>T (p.Pro1059=)
n.3328G>T
c.3174G>T (p.Pro1058=)
c.3348G>T (p.Pro1116=)
 dbSNP gnomAD v4
7g.41965722C=CA1702660905GLI3c.3351G= (p.Pro1117=)
c.3177G= (p.Pro1059=)
n.3328G=
c.3174G= (p.Pro1058=)
c.3348G= (p.Pro1116=)
7g.41965722C>GCA454662379GLI3c.3351G>C (p.Pro1117=)
c.3177G>C (p.Pro1059=)
n.3328G>C
c.3174G>C (p.Pro1058=)
c.3348G>C (p.Pro1116=)
7g.41965722C>TCA4230387GLI3c.3351G>A (p.Pro1117=)
c.3177G>A (p.Pro1059=)
n.3328G>A
c.3174G>A (p.Pro1058=)
c.3348G>A (p.Pro1116=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41965723G>ACA4230389GLI3c.3350C>T (p.Pro1117Leu)
c.3176C>T (p.Pro1059Leu)
n.3327C>T
c.3173C>T (p.Pro1058Leu)
c.3347C>T (p.Pro1116Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965723G>CCA4230388GLI3c.3350C>G (p.Pro1117Arg)
c.3176C>G (p.Pro1059Arg)
n.3327C>G
c.3173C>G (p.Pro1058Arg)
c.3347C>G (p.Pro1116Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965723G=CA1702660906GLI3c.3350C= (p.Pro1117=)
c.3176C= (p.Pro1059=)
n.3327C=
c.3173C= (p.Pro1058=)
c.3347C= (p.Pro1116=)
7g.41965723G>TCA367318371GLI3c.3350C>A (p.Pro1117Gln)
c.3176C>A (p.Pro1059Gln)
n.3327C>A
c.3173C>A (p.Pro1058Gln)
c.3347C>A (p.Pro1116Gln)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.41965724G>ACA367318374GLI3c.3349C>T (p.Pro1117Ser)
c.3175C>T (p.Pro1059Ser)
n.3326C>T
c.3172C>T (p.Pro1058Ser)
c.3346C>T (p.Pro1116Ser)
 ClinVar
7g.41965724G>CCA367318375GLI3c.3349C>G (p.Pro1117Ala)
c.3175C>G (p.Pro1059Ala)
n.3326C>G
c.3172C>G (p.Pro1058Ala)
c.3346C>G (p.Pro1116Ala)
7g.41965724G>TCA367318377GLI3c.3349C>A (p.Pro1117Thr)
c.3175C>A (p.Pro1059Thr)
n.3326C>A
c.3172C>A (p.Pro1058Thr)
c.3346C>A (p.Pro1116Thr)
7g.41965725G>ACA454662385GLI3c.3348C>T (p.Leu1116=)
c.3174C>T (p.Leu1058=)
n.3325C>T
c.3171C>T (p.Leu1057=)
c.3345C>T (p.Leu1115=)
7g.41965725G>CCA454662387GLI3c.3348C>G (p.Leu1116=)
c.3174C>G (p.Leu1058=)
n.3325C>G
c.3171C>G (p.Leu1057=)
c.3345C>G (p.Leu1115=)
 dbSNP
7g.41965725G=CA1702660907GLI3c.3348C= (p.Leu1116=)
c.3174C= (p.Leu1058=)
n.3325C=
c.3171C= (p.Leu1057=)
c.3345C= (p.Leu1115=)
7g.41965725G>TCA454662389GLI3c.3348C>A (p.Leu1116=)
c.3174C>A (p.Leu1058=)
n.3325C>A
c.3171C>A (p.Leu1057=)
c.3345C>A (p.Leu1115=)
7g.41965726delCA2682510065GLI3c.3347del (p.Leu1116ProfsTer?)
c.3173del (p.Leu1058ProfsTer?)
n.3324del
c.3170del (p.Leu1057ProfsTer?)
c.3344del (p.Leu1115ProfsTer?)
 gnomAD v4
7g.41965726A>CCA367318384GLI3c.3347T>G (p.Leu1116Arg)
c.3173T>G (p.Leu1058Arg)
n.3324T>G
c.3170T>G (p.Leu1057Arg)
c.3344T>G (p.Leu1115Arg)
7g.41965726A>GCA367318381GLI3c.3347T>C (p.Leu1116Pro)
c.3173T>C (p.Leu1058Pro)
n.3324T>C
c.3170T>C (p.Leu1057Pro)
c.3344T>C (p.Leu1115Pro)
7g.41965726A>TCA367318380GLI3c.3347T>A (p.Leu1116His)
c.3173T>A (p.Leu1058His)
n.3324T>A
c.3170T>A (p.Leu1057His)
c.3344T>A (p.Leu1115His)
7g.41965727G>ACA4230390GLI3c.3346C>T (p.Leu1116Phe)
c.3172C>T (p.Leu1058Phe)
n.3323C>T
c.3169C>T (p.Leu1057Phe)
c.3343C>T (p.Leu1115Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965727G>CCA367318388GLI3c.3346C>G (p.Leu1116Val)
c.3172C>G (p.Leu1058Val)
n.3323C>G
c.3169C>G (p.Leu1057Val)
c.3343C>G (p.Leu1115Val)
 gnomAD v4
7g.41965727G=CA1702660908GLI3c.3346C= (p.Leu1116=)
c.3172C= (p.Leu1058=)
n.3323C=
c.3169C= (p.Leu1057=)
c.3343C= (p.Leu1115=)
7g.41965727G>TCA367318390GLI3c.3346C>A (p.Leu1116Ile)
c.3172C>A (p.Leu1058Ile)
n.3323C>A
c.3169C>A (p.Leu1057Ile)
c.3343C>A (p.Leu1115Ile)
7g.41965728G>ACA454662395GLI3c.3345C>T (p.Ala1115=)
c.3171C>T (p.Ala1057=)
n.3322C>T
c.3168C>T (p.Ala1056=)
c.3342C>T (p.Ala1114=)
 gnomAD v4
7g.41965728G>CCA454662396GLI3c.3345C>G (p.Ala1115=)
c.3171C>G (p.Ala1057=)
n.3322C>G
c.3168C>G (p.Ala1056=)
c.3342C>G (p.Ala1114=)
7g.41965728G>TCA454662398GLI3c.3345C>A (p.Ala1115=)
c.3171C>A (p.Ala1057=)
n.3322C>A
c.3168C>A (p.Ala1056=)
c.3342C>A (p.Ala1114=)
7g.41965729G>ACA367318393GLI3c.3344C>T (p.Ala1115Val)
c.3170C>T (p.Ala1057Val)
n.3321C>T
c.3167C>T (p.Ala1056Val)
c.3341C>T (p.Ala1114Val)
 gnomAD v4
7g.41965729G>CCA367318395GLI3c.3344C>G (p.Ala1115Gly)
c.3170C>G (p.Ala1057Gly)
n.3321C>G
c.3167C>G (p.Ala1056Gly)
c.3341C>G (p.Ala1114Gly)
7g.41965729G>TCA367318397GLI3c.3344C>A (p.Ala1115Asp)
c.3170C>A (p.Ala1057Asp)
n.3321C>A
c.3167C>A (p.Ala1056Asp)
c.3341C>A (p.Ala1114Asp)
7g.41965730C>ACA4230392GLI3c.3343G>T (p.Ala1115Ser)
c.3169G>T (p.Ala1057Ser)
n.3320G>T
c.3166G>T (p.Ala1056Ser)
c.3340G>T (p.Ala1114Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965730C=CA1702660909GLI3c.3343G= (p.Ala1115=)
c.3169G= (p.Ala1057=)
n.3320G=
c.3166G= (p.Ala1056=)
c.3340G= (p.Ala1114=)
7g.41965730C>GCA367318402GLI3c.3343G>C (p.Ala1115Pro)
c.3169G>C (p.Ala1057Pro)
n.3320G>C
c.3166G>C (p.Ala1056Pro)
c.3340G>C (p.Ala1114Pro)
7g.41965730C>TCA4230391GLI3c.3343G>A (p.Ala1115Thr)
c.3169G>A (p.Ala1057Thr)
n.3320G>A
c.3166G>A (p.Ala1056Thr)
c.3340G>A (p.Ala1114Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965731G>ACA454662401GLI3c.3342C>T (p.Ser1114=)
c.3168C>T (p.Ser1056=)
n.3319C>T
c.3165C>T (p.Ser1055=)
c.3339C>T (p.Ser1113=)
 dbSNP gnomAD v4
7g.41965731G>CCA367318406GLI3c.3342C>G (p.Ser1114Arg)
c.3168C>G (p.Ser1056Arg)
n.3319C>G
c.3165C>G (p.Ser1055Arg)
c.3339C>G (p.Ser1113Arg)
7g.41965731G=CA1702660910GLI3c.3342C= (p.Ser1114=)
c.3168C= (p.Ser1056=)
n.3319C=
c.3165C= (p.Ser1055=)
c.3339C= (p.Ser1113=)
7g.41965731G>TCA367318408GLI3c.3342C>A (p.Ser1114Arg)
c.3168C>A (p.Ser1056Arg)
n.3319C>A
c.3165C>A (p.Ser1055Arg)
c.3339C>A (p.Ser1113Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.41965732C>ACA367318411GLI3c.3341G>T (p.Ser1114Ile)
c.3167G>T (p.Ser1056Ile)
n.3318G>T
c.3164G>T (p.Ser1055Ile)
c.3338G>T (p.Ser1113Ile)
 COSMIC
7g.41965732C>GCA367318413GLI3c.3341G>C (p.Ser1114Thr)
c.3167G>C (p.Ser1056Thr)
n.3318G>C
c.3164G>C (p.Ser1055Thr)
c.3338G>C (p.Ser1113Thr)
7g.41965732C>TCA367318415GLI3c.3341G>A (p.Ser1114Asn)
c.3167G>A (p.Ser1056Asn)
n.3318G>A
c.3164G>A (p.Ser1055Asn)
c.3338G>A (p.Ser1113Asn)
7g.41965733T>ACA367318422GLI3c.3340A>T (p.Ser1114Cys)
c.3166A>T (p.Ser1056Cys)
n.3317A>T
c.3163A>T (p.Ser1055Cys)
c.3337A>T (p.Ser1113Cys)
7g.41965733T>CCA367318420GLI3c.3340A>G (p.Ser1114Gly)
c.3166A>G (p.Ser1056Gly)
n.3317A>G
c.3163A>G (p.Ser1055Gly)
c.3337A>G (p.Ser1113Gly)
7g.41965733T>GCA367318418GLI3c.3340A>C (p.Ser1114Arg)
c.3166A>C (p.Ser1056Arg)
n.3317A>C
c.3163A>C (p.Ser1055Arg)
c.3337A>C (p.Ser1113Arg)
7g.41965734G>ACA454662405GLI3c.3339C>T (p.Pro1113=)
c.3165C>T (p.Pro1055=)
n.3316C>T
c.3162C>T (p.Pro1054=)
c.3336C>T (p.Pro1112=)
7g.41965734G>CCA4230393GLI3c.3339C>G (p.Pro1113=)
c.3165C>G (p.Pro1055=)
n.3316C>G
c.3162C>G (p.Pro1054=)
c.3336C>G (p.Pro1112=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965734G=CA1702660911GLI3c.3339C= (p.Pro1113=)
c.3165C= (p.Pro1055=)
n.3316C=
c.3162C= (p.Pro1054=)
c.3336C= (p.Pro1112=)
7g.41965734G>TCA454662409GLI3c.3339C>A (p.Pro1113=)
c.3165C>A (p.Pro1055=)
n.3316C>A
c.3162C>A (p.Pro1054=)
c.3336C>A (p.Pro1112=)
 dbSNP
7g.41965735G>ACA367318426GLI3c.3338C>T (p.Pro1113Leu)
c.3164C>T (p.Pro1055Leu)
n.3315C>T
c.3161C>T (p.Pro1054Leu)
c.3335C>T (p.Pro1112Leu)
 gnomAD v4
7g.41965735G>CCA367318429GLI3c.3338C>G (p.Pro1113Arg)
c.3164C>G (p.Pro1055Arg)
n.3315C>G
c.3161C>G (p.Pro1054Arg)
c.3335C>G (p.Pro1112Arg)
7g.41965735G>TCA367318427GLI3c.3338C>A (p.Pro1113His)
c.3164C>A (p.Pro1055His)
n.3315C>A
c.3161C>A (p.Pro1054His)
c.3335C>A (p.Pro1112His)
7g.41965736G>ACA367318432GLI3c.3337C>T (p.Pro1113Ser)
c.3163C>T (p.Pro1055Ser)
n.3314C>T
c.3160C>T (p.Pro1054Ser)
c.3334C>T (p.Pro1112Ser)
 gnomAD v4
7g.41965736G>CCA367318434GLI3c.3337C>G (p.Pro1113Ala)
c.3163C>G (p.Pro1055Ala)
n.3314C>G
c.3160C>G (p.Pro1054Ala)
c.3334C>G (p.Pro1112Ala)
 gnomAD v4
7g.41965736G>TCA367318436GLI3c.3337C>A (p.Pro1113Thr)
c.3163C>A (p.Pro1055Thr)
n.3314C>A
c.3160C>A (p.Pro1054Thr)
c.3334C>A (p.Pro1112Thr)
7g.41965737G>ACA454662416GLI3c.3336C>T (p.Phe1112=)
c.3162C>T (p.Phe1054=)
n.3313C>T
c.3159C>T (p.Phe1053=)
c.3333C>T (p.Phe1111=)
 dbSNP
7g.41965737G>CCA367318439GLI3c.3336C>G (p.Phe1112Leu)
c.3162C>G (p.Phe1054Leu)
n.3313C>G
c.3159C>G (p.Phe1053Leu)
c.3333C>G (p.Phe1111Leu)
 dbSNP
7g.41965737G=CA1702660912GLI3c.3336C= (p.Phe1112=)
c.3162C= (p.Phe1054=)
n.3313C=
c.3159C= (p.Phe1053=)
c.3333C= (p.Phe1111=)
7g.41965737G>TCA367318441GLI3c.3336C>A (p.Phe1112Leu)
c.3162C>A (p.Phe1054Leu)
n.3313C>A
c.3159C>A (p.Phe1053Leu)
c.3333C>A (p.Phe1111Leu)
7g.41965738A=CA1702660913GLI3c.3335T= (p.Phe1112=)
c.3161T= (p.Phe1054=)
n.3312T=
c.3158T= (p.Phe1053=)
c.3332T= (p.Phe1111=)
7g.41965738A>CCA367318444GLI3c.3335T>G (p.Phe1112Cys)
c.3161T>G (p.Phe1054Cys)
n.3312T>G
c.3158T>G (p.Phe1053Cys)
c.3332T>G (p.Phe1111Cys)
7g.41965738A>GCA4230394GLI3c.3335T>C (p.Phe1112Ser)
c.3161T>C (p.Phe1054Ser)
n.3312T>C
c.3158T>C (p.Phe1053Ser)
c.3332T>C (p.Phe1111Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965738A>TCA367318448GLI3c.3335T>A (p.Phe1112Tyr)
c.3161T>A (p.Phe1054Tyr)
n.3312T>A
c.3158T>A (p.Phe1053Tyr)
c.3332T>A (p.Phe1111Tyr)
7g.41965739A>CCA367318451GLI3c.3334T>G (p.Phe1112Val)
c.3160T>G (p.Phe1054Val)
n.3311T>G
c.3157T>G (p.Phe1053Val)
c.3331T>G (p.Phe1111Val)
7g.41965739A>GCA367318453GLI3c.3334T>C (p.Phe1112Leu)
c.3160T>C (p.Phe1054Leu)
n.3311T>C
c.3157T>C (p.Phe1053Leu)
c.3331T>C (p.Phe1111Leu)
7g.41965739A>TCA367318455GLI3c.3334T>A (p.Phe1112Ile)
c.3160T>A (p.Phe1054Ile)
n.3311T>A
c.3157T>A (p.Phe1053Ile)
c.3331T>A (p.Phe1111Ile)
7g.41965740G>ACA454662418GLI3c.3333C>T (p.His1111=)
c.3159C>T (p.His1053=)
n.3310C>T
c.3156C>T (p.His1052=)
c.3330C>T (p.His1110=)
7g.41965740G>CCA367318457GLI3c.3333C>G (p.His1111Gln)
c.3159C>G (p.His1053Gln)
n.3310C>G
c.3156C>G (p.His1052Gln)
c.3330C>G (p.His1110Gln)
7g.41965740G>TCA367318459GLI3c.3333C>A (p.His1111Gln)
c.3159C>A (p.His1053Gln)
n.3310C>A
c.3156C>A (p.His1052Gln)
c.3330C>A (p.His1110Gln)
7g.41965741T>ACA367318468GLI3c.3332A>T (p.His1111Leu)
c.3158A>T (p.His1053Leu)
n.3309A>T
c.3155A>T (p.His1052Leu)
c.3329A>T (p.His1110Leu)
7g.41965741T>CCA367318466GLI3c.3332A>G (p.His1111Arg)
c.3158A>G (p.His1053Arg)
n.3309A>G
c.3155A>G (p.His1052Arg)
c.3329A>G (p.His1110Arg)
7g.41965741T>GCA367318464GLI3c.3332A>C (p.His1111Pro)
c.3158A>C (p.His1053Pro)
n.3309A>C
c.3155A>C (p.His1052Pro)
c.3329A>C (p.His1110Pro)
 dbSNP gnomAD v2
7g.41965741T=CA1702660914GLI3c.3332A= (p.His1111=)
c.3158A= (p.His1053=)
n.3309A=
c.3155A= (p.His1052=)
c.3329A= (p.His1110=)
7g.41965742G>ACA367318470GLI3c.3331C>T (p.His1111Tyr)
c.3157C>T (p.His1053Tyr)
n.3308C>T
c.3154C>T (p.His1052Tyr)
c.3328C>T (p.His1110Tyr)
7g.41965742G>CCA367318472GLI3c.3331C>G (p.His1111Asp)
c.3157C>G (p.His1053Asp)
n.3308C>G
c.3154C>G (p.His1052Asp)
c.3328C>G (p.His1110Asp)
 gnomAD v4
7g.41965742G>TCA367318474GLI3c.3331C>A (p.His1111Asn)
c.3157C>A (p.His1053Asn)
n.3308C>A
c.3154C>A (p.His1052Asn)
c.3328C>A (p.His1110Asn)
7g.41965743C>ACA367318475GLI3c.3330G>T (p.Gln1110His)
c.3156G>T (p.Gln1052His)
n.3307G>T
c.3153G>T (p.Gln1051His)
c.3327G>T (p.Gln1109His)
7g.41965743C>GCA367318477GLI3c.3330G>C (p.Gln1110His)
c.3156G>C (p.Gln1052His)
n.3307G>C
c.3153G>C (p.Gln1051His)
c.3327G>C (p.Gln1109His)
7g.41965743C>TCA454662425GLI3c.3330G>A (p.Gln1110=)
c.3156G>A (p.Gln1052=)
n.3307G>A
c.3153G>A (p.Gln1051=)
c.3327G>A (p.Gln1109=)
7g.41965744T>ACA367318480GLI3c.3329A>T (p.Gln1110Leu)
c.3155A>T (p.Gln1052Leu)
n.3306A>T
c.3152A>T (p.Gln1051Leu)
c.3326A>T (p.Gln1109Leu)
7g.41965744T>CCA4230395GLI3c.3329A>G (p.Gln1110Arg)
c.3155A>G (p.Gln1052Arg)
n.3306A>G
c.3152A>G (p.Gln1051Arg)
c.3326A>G (p.Gln1109Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965744T>GCA367318482GLI3c.3329A>C (p.Gln1110Pro)
c.3155A>C (p.Gln1052Pro)
n.3306A>C
c.3152A>C (p.Gln1051Pro)
c.3326A>C (p.Gln1109Pro)
 gnomAD v4
7g.41965744T=CA1702660915GLI3c.3329A= (p.Gln1110=)
c.3155A= (p.Gln1052=)
n.3306A=
c.3152A= (p.Gln1051=)
c.3326A= (p.Gln1109=)
7g.41965745G>ACA367318485GLI3c.3328C>T (p.Gln1110Ter)
c.3154C>T (p.Gln1052Ter)
n.3305C>T
c.3151C>T (p.Gln1051Ter)
c.3325C>T (p.Gln1109Ter)
7g.41965745G>CCA156904283GLI3c.3328C>G (p.Gln1110Glu)
c.3154C>G (p.Gln1052Glu)
n.3305C>G
c.3151C>G (p.Gln1051Glu)
c.3325C>G (p.Gln1109Glu)
 dbSNP
7g.41965745G=CA1702660916GLI3c.3328C= (p.Gln1110=)
c.3154C= (p.Gln1052=)
n.3305C=
c.3151C= (p.Gln1051=)
c.3325C= (p.Gln1109=)
7g.41965745G>TCA367318487GLI3c.3328C>A (p.Gln1110Lys)
c.3154C>A (p.Gln1052Lys)
n.3305C>A
c.3151C>A (p.Gln1051Lys)
c.3325C>A (p.Gln1109Lys)
7g.41965745_41965746insACCA454662431GLI3c.3327_3328insGT (p.Gln1110ValfsTer?)
c.3153_3154insGT (p.Gln1052ValfsTer?)
n.3304_3305insGT
c.3150_3151insGT (p.Gln1051ValfsTer?)
c.3324_3325insGT (p.Gln1109ValfsTer?)
7g.41965746C>ACA367318490GLI3c.3327G>T (p.Glu1109Asp)
c.3153G>T (p.Glu1051Asp)
n.3304G>T
c.3150G>T (p.Glu1050Asp)
c.3324G>T (p.Glu1108Asp)
7g.41965746C>GCA367318492GLI3c.3327G>C (p.Glu1109Asp)
c.3153G>C (p.Glu1051Asp)
n.3304G>C
c.3150G>C (p.Glu1050Asp)
c.3324G>C (p.Glu1108Asp)
7g.41965746C>TCA454662437GLI3c.3327G>A (p.Glu1109=)
c.3153G>A (p.Glu1051=)
n.3304G>A
c.3150G>A (p.Glu1050=)
c.3324G>A (p.Glu1108=)
7g.41965747T>ACA367318496GLI3c.3326A>T (p.Glu1109Val)
c.3152A>T (p.Glu1051Val)
n.3303A>T
c.3149A>T (p.Glu1050Val)
c.3323A>T (p.Glu1108Val)
7g.41965747T>CCA367318497GLI3c.3326A>G (p.Glu1109Gly)
c.3152A>G (p.Glu1051Gly)
n.3303A>G
c.3149A>G (p.Glu1050Gly)
c.3323A>G (p.Glu1108Gly)
 gnomAD v4
7g.41965747T>GCA367318494GLI3c.3326A>C (p.Glu1109Ala)
c.3152A>C (p.Glu1051Ala)
n.3303A>C
c.3149A>C (p.Glu1050Ala)
c.3323A>C (p.Glu1108Ala)
7g.41965748C>ACA367318501GLI3c.3325G>T (p.Glu1109Ter)
c.3151G>T (p.Glu1051Ter)
n.3302G>T
c.3148G>T (p.Glu1050Ter)
c.3322G>T (p.Glu1108Ter)
 ClinVar dbSNP
7g.41965748C=CA1702660917GLI3c.3325G= (p.Glu1109=)
c.3151G= (p.Glu1051=)
n.3302G=
c.3148G= (p.Glu1050=)
c.3322G= (p.Glu1108=)
7g.41965748C>GCA367318503GLI3c.3325G>C (p.Glu1109Gln)
c.3151G>C (p.Glu1051Gln)
n.3302G>C
c.3148G>C (p.Glu1050Gln)
c.3322G>C (p.Glu1108Gln)
7g.41965748C>TCA4230396GLI3c.3325G>A (p.Glu1109Lys)
c.3151G>A (p.Glu1051Lys)
n.3302G>A
c.3148G>A (p.Glu1050Lys)
c.3322G>A (p.Glu1108Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965749G>ACA454662445GLI3c.3324C>T (p.Tyr1108=)
c.3150C>T (p.Tyr1050=)
n.3301C>T
c.3147C>T (p.Tyr1049=)
c.3321C>T (p.Tyr1107=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.41965749G>CCA342940GLI3c.3324C>G (p.Tyr1108Ter)
c.3150C>G (p.Tyr1050Ter)
n.3301C>G
c.3147C>G (p.Tyr1049Ter)
c.3321C>G (p.Tyr1107Ter)
 ClinVar dbSNP
7g.41965749G=CA1702660918GLI3c.3324C= (p.Tyr1108=)
c.3150C= (p.Tyr1050=)
n.3301C=
c.3147C= (p.Tyr1049=)
c.3321C= (p.Tyr1107=)
7g.41965749G>TCA367318510GLI3c.3324C>A (p.Tyr1108Ter)
c.3150C>A (p.Tyr1050Ter)
n.3301C>A
c.3147C>A (p.Tyr1049Ter)
c.3321C>A (p.Tyr1107Ter)
 ClinVar dbSNP
7g.41965750T>ACA367318513GLI3c.3323A>T (p.Tyr1108Phe)
c.3149A>T (p.Tyr1050Phe)
n.3300A>T
c.3146A>T (p.Tyr1049Phe)
c.3320A>T (p.Tyr1107Phe)
7g.41965750T>CCA367318515GLI3c.3323A>G (p.Tyr1108Cys)
c.3149A>G (p.Tyr1050Cys)
n.3300A>G
c.3146A>G (p.Tyr1049Cys)
c.3320A>G (p.Tyr1107Cys)
7g.41965750T>GCA367318517GLI3c.3323A>C (p.Tyr1108Ser)
c.3149A>C (p.Tyr1050Ser)
n.3300A>C
c.3146A>C (p.Tyr1049Ser)
c.3320A>C (p.Tyr1107Ser)
7g.41965751A>CCA367318520GLI3c.3322T>G (p.Tyr1108Asp)
c.3148T>G (p.Tyr1050Asp)
n.3299T>G
c.3145T>G (p.Tyr1049Asp)
c.3319T>G (p.Tyr1107Asp)
7g.41965751A>GCA367318521GLI3c.3322T>C (p.Tyr1108His)
c.3148T>C (p.Tyr1050His)
n.3299T>C
c.3145T>C (p.Tyr1049His)
c.3319T>C (p.Tyr1107His)
7g.41965751A>TCA367318524GLI3c.3322T>A (p.Tyr1108Asn)
c.3148T>A (p.Tyr1050Asn)
n.3299T>A
c.3145T>A (p.Tyr1049Asn)
c.3319T>A (p.Tyr1107Asn)
7g.41965752C>ACA454662447GLI3c.3321G>T (p.Gly1107=)
c.3147G>T (p.Gly1049=)
n.3298G>T
c.3144G>T (p.Gly1048=)
c.3318G>T (p.Gly1106=)
 gnomAD v4
7g.41965752C=CA1702660919GLI3c.3321G= (p.Gly1107=)
c.3147G= (p.Gly1049=)
n.3298G=
c.3144G= (p.Gly1048=)
c.3318G= (p.Gly1106=)
7g.41965752C>GCA454662450GLI3c.3321G>C (p.Gly1107=)
c.3147G>C (p.Gly1049=)
n.3298G>C
c.3144G>C (p.Gly1048=)
c.3318G>C (p.Gly1106=)
 dbSNP
7g.41965752C>TCA454662451GLI3c.3321G>A (p.Gly1107=)
c.3147G>A (p.Gly1049=)
n.3298G>A
c.3144G>A (p.Gly1048=)
c.3318G>A (p.Gly1106=)
 gnomAD v4
7g.41965753C>ACA4230397GLI3c.3320G>T (p.Gly1107Val)
c.3146G>T (p.Gly1049Val)
n.3297G>T
c.3143G>T (p.Gly1048Val)
c.3317G>T (p.Gly1106Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965753C=CA1702660920GLI3c.3320G= (p.Gly1107=)
c.3146G= (p.Gly1049=)
n.3297G=
c.3143G= (p.Gly1048=)
c.3317G= (p.Gly1106=)
7g.41965753C>GCA367318529GLI3c.3320G>C (p.Gly1107Ala)
c.3146G>C (p.Gly1049Ala)
n.3297G>C
c.3143G>C (p.Gly1048Ala)
c.3317G>C (p.Gly1106Ala)
 dbSNP gnomAD v2 gnomAD v4
7g.41965753C>TCA367318527GLI3c.3320G>A (p.Gly1107Glu)
c.3146G>A (p.Gly1049Glu)
n.3297G>A
c.3143G>A (p.Gly1048Glu)
c.3317G>A (p.Gly1106Glu)
7g.41965754C>ACA367318533GLI3c.3319G>T (p.Gly1107Trp)
c.3145G>T (p.Gly1049Trp)
n.3296G>T
c.3142G>T (p.Gly1048Trp)
c.3316G>T (p.Gly1106Trp)
7g.41965754C=CA1702660921GLI3c.3319G= (p.Gly1107=)
c.3145G= (p.Gly1049=)
n.3296G=
c.3142G= (p.Gly1048=)
c.3316G= (p.Gly1106=)
7g.41965754C>GCA367318535GLI3c.3319G>C (p.Gly1107Arg)
c.3145G>C (p.Gly1049Arg)
n.3296G>C
c.3142G>C (p.Gly1048Arg)
c.3316G>C (p.Gly1106Arg)
 gnomAD v4
7g.41965754C>TCA156904291GLI3c.3319G>A (p.Gly1107Arg)
c.3145G>A (p.Gly1049Arg)
n.3296G>A
c.3142G>A (p.Gly1048Arg)
c.3316G>A (p.Gly1106Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41965755T>ACA454662452GLI3c.3318A>T (p.Ala1106=)
c.3144A>T (p.Ala1048=)
n.3295A>T
c.3141A>T (p.Ala1047=)
c.3315A>T (p.Ala1105=)
 dbSNP COSMIC
7g.41965755T>CCA454662453GLI3c.3318A>G (p.Ala1106=)
c.3144A>G (p.Ala1048=)
n.3295A>G
c.3141A>G (p.Ala1047=)
c.3315A>G (p.Ala1105=)
 gnomAD v4
7g.41965755T>GCA4230398GLI3c.3318A>C (p.Ala1106=)
c.3144A>C (p.Ala1048=)
n.3295A>C
c.3141A>C (p.Ala1047=)
c.3315A>C (p.Ala1105=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965755T=CA1702660922GLI3c.3318A= (p.Ala1106=)
c.3144A= (p.Ala1048=)
n.3295A=
c.3141A= (p.Ala1047=)
c.3315A= (p.Ala1105=)
7g.41965756G>ACA367318540GLI3c.3317C>T (p.Ala1106Val)
c.3143C>T (p.Ala1048Val)
n.3294C>T
c.3140C>T (p.Ala1047Val)
c.3314C>T (p.Ala1105Val)
 gnomAD v4
7g.41965756G>CCA367318543GLI3c.3317C>G (p.Ala1106Gly)
c.3143C>G (p.Ala1048Gly)
n.3294C>G
c.3140C>G (p.Ala1047Gly)
c.3314C>G (p.Ala1105Gly)
7g.41965756G>TCA367318544GLI3c.3317C>A (p.Ala1106Glu)
c.3143C>A (p.Ala1048Glu)
n.3294C>A
c.3140C>A (p.Ala1047Glu)
c.3314C>A (p.Ala1105Glu)
7g.41965757C>ACA367318548GLI3c.3316G>T (p.Ala1106Ser)
c.3142G>T (p.Ala1048Ser)
n.3293G>T
c.3139G>T (p.Ala1047Ser)
c.3313G>T (p.Ala1105Ser)
7g.41965757C>GCA367318550GLI3c.3316G>C (p.Ala1106Pro)
c.3142G>C (p.Ala1048Pro)
n.3293G>C
c.3139G>C (p.Ala1047Pro)
c.3313G>C (p.Ala1105Pro)
7g.41965757C>TCA367318552GLI3c.3316G>A (p.Ala1106Thr)
c.3142G>A (p.Ala1048Thr)
n.3293G>A
c.3139G>A (p.Ala1047Thr)
c.3313G>A (p.Ala1105Thr)
7g.41965758T>ACA367318555GLI3c.3315A>T (p.Gln1105His)
c.3141A>T (p.Gln1047His)
n.3292A>T
c.3138A>T (p.Gln1046His)
c.3312A>T (p.Gln1104His)
7g.41965758T>CCA454662464GLI3c.3315A>G (p.Gln1105=)
c.3141A>G (p.Gln1047=)
n.3292A>G
c.3138A>G (p.Gln1046=)
c.3312A>G (p.Gln1104=)
7g.41965758T>GCA367318557GLI3c.3315A>C (p.Gln1105His)
c.3141A>C (p.Gln1047His)
n.3292A>C
c.3138A>C (p.Gln1046His)
c.3312A>C (p.Gln1104His)
7g.41965759T>ACA367318564GLI3c.3314A>T (p.Gln1105Leu)
c.3140A>T (p.Gln1047Leu)
n.3291A>T
c.3137A>T (p.Gln1046Leu)
c.3311A>T (p.Gln1104Leu)
7g.41965759T>CCA367318562GLI3c.3314A>G (p.Gln1105Arg)
c.3140A>G (p.Gln1047Arg)
n.3291A>G
c.3137A>G (p.Gln1046Arg)
c.3311A>G (p.Gln1104Arg)
7g.41965759T>GCA367318560GLI3c.3314A>C (p.Gln1105Pro)
c.3140A>C (p.Gln1047Pro)
n.3291A>C
c.3137A>C (p.Gln1046Pro)
c.3311A>C (p.Gln1104Pro)
7g.41965760G>ACA367318567GLI3c.3313C>T (p.Gln1105Ter)
c.3139C>T (p.Gln1047Ter)
n.3290C>T
c.3136C>T (p.Gln1046Ter)
c.3310C>T (p.Gln1104Ter)
7g.41965760G>CCA367318570GLI3c.3313C>G (p.Gln1105Glu)
c.3139C>G (p.Gln1047Glu)
n.3290C>G
c.3136C>G (p.Gln1046Glu)
c.3310C>G (p.Gln1104Glu)
7g.41965760G>TCA367318569GLI3c.3313C>A (p.Gln1105Lys)
c.3139C>A (p.Gln1047Lys)
n.3290C>A
c.3136C>A (p.Gln1046Lys)
c.3310C>A (p.Gln1104Lys)

Number of alleles fetched