Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.41965500A=CA1702660789GLI3c.3573T= (p.Phe1191=)
c.3399T= (p.Phe1133=)
n.3550T=
c.3396T= (p.Phe1132=)
c.3570T= (p.Phe1190=)
7g.41965500A>CCA367317756GLI3c.3573T>G (p.Phe1191Leu)
c.3399T>G (p.Phe1133Leu)
n.3550T>G
c.3396T>G (p.Phe1132Leu)
c.3570T>G (p.Phe1190Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.41965500A>GCA454662752GLI3c.3573T>C (p.Phe1191=)
c.3399T>C (p.Phe1133=)
n.3550T>C
c.3396T>C (p.Phe1132=)
c.3570T>C (p.Phe1190=)
7g.41965500A>TCA367317757GLI3c.3573T>A (p.Phe1191Leu)
c.3399T>A (p.Phe1133Leu)
n.3550T>A
c.3396T>A (p.Phe1132Leu)
c.3570T>A (p.Phe1190Leu)
7g.41965502delCA2682510062GLI3c.3573del (p.Phe1191LeufsTer15)
c.3399del (p.Phe1133LeufsTer15)
n.3550del
c.3396del (p.Phe1132LeufsTer15)
c.3570del (p.Phe1190LeufsTer15)
 gnomAD v4
7g.41965501A>CCA367317760GLI3c.3572T>G (p.Phe1191Cys)
c.3398T>G (p.Phe1133Cys)
n.3549T>G
c.3395T>G (p.Phe1132Cys)
c.3569T>G (p.Phe1190Cys)
7g.41965501A>GCA367317758GLI3c.3572T>C (p.Phe1191Ser)
c.3398T>C (p.Phe1133Ser)
n.3549T>C
c.3395T>C (p.Phe1132Ser)
c.3569T>C (p.Phe1190Ser)
 COSMIC
7g.41965501A>TCA367317759GLI3c.3572T>A (p.Phe1191Tyr)
c.3398T>A (p.Phe1133Tyr)
n.3549T>A
c.3395T>A (p.Phe1132Tyr)
c.3569T>A (p.Phe1190Tyr)
7g.41965502A>CCA367317761GLI3c.3571T>G (p.Phe1191Val)
c.3397T>G (p.Phe1133Val)
n.3548T>G
c.3394T>G (p.Phe1132Val)
c.3568T>G (p.Phe1190Val)
7g.41965502A>GCA367317762GLI3c.3571T>C (p.Phe1191Leu)
c.3397T>C (p.Phe1133Leu)
n.3548T>C
c.3394T>C (p.Phe1132Leu)
c.3568T>C (p.Phe1190Leu)
 gnomAD v4
7g.41965502A>TCA367317763GLI3c.3571T>A (p.Phe1191Ile)
c.3397T>A (p.Phe1133Ile)
n.3548T>A
c.3394T>A (p.Phe1132Ile)
c.3568T>A (p.Phe1190Ile)
7g.41965503G>ACA454662753GLI3c.3570C>T (p.Ala1190=)
c.3396C>T (p.Ala1132=)
n.3547C>T
c.3393C>T (p.Ala1131=)
c.3567C>T (p.Ala1189=)
7g.41965503G>CCA454662754GLI3c.3570C>G (p.Ala1190=)
c.3396C>G (p.Ala1132=)
n.3547C>G
c.3393C>G (p.Ala1131=)
c.3567C>G (p.Ala1189=)
7g.41965503G>TCA454662755GLI3c.3570C>A (p.Ala1190=)
c.3396C>A (p.Ala1132=)
n.3547C>A
c.3393C>A (p.Ala1131=)
c.3567C>A (p.Ala1189=)
7g.41965504G>ACA4230332GLI3c.3569C>T (p.Ala1190Val)
c.3395C>T (p.Ala1132Val)
n.3546C>T
c.3392C>T (p.Ala1131Val)
c.3566C>T (p.Ala1189Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965504G>CCA367317764GLI3c.3569C>G (p.Ala1190Gly)
c.3395C>G (p.Ala1132Gly)
n.3546C>G
c.3392C>G (p.Ala1131Gly)
c.3566C>G (p.Ala1189Gly)
7g.41965504G=CA1702660790GLI3c.3569C= (p.Ala1190=)
c.3395C= (p.Ala1132=)
n.3546C=
c.3392C= (p.Ala1131=)
c.3566C= (p.Ala1189=)
7g.41965504G>TCA367317765GLI3c.3569C>A (p.Ala1190Asp)
c.3395C>A (p.Ala1132Asp)
n.3546C>A
c.3392C>A (p.Ala1131Asp)
c.3566C>A (p.Ala1189Asp)
 gnomAD v4
7g.41965505C>ACA4230333GLI3c.3568G>T (p.Ala1190Ser)
c.3394G>T (p.Ala1132Ser)
n.3545G>T
c.3391G>T (p.Ala1131Ser)
c.3565G>T (p.Ala1189Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965505C=CA1702660791GLI3c.3568G= (p.Ala1190=)
c.3394G= (p.Ala1132=)
n.3545G=
c.3391G= (p.Ala1131=)
c.3565G= (p.Ala1189=)
7g.41965505C>GCA367317766GLI3c.3568G>C (p.Ala1190Pro)
c.3394G>C (p.Ala1132Pro)
n.3545G>C
c.3391G>C (p.Ala1131Pro)
c.3565G>C (p.Ala1189Pro)
7g.41965505C>TCA156903746GLI3c.3568G>A (p.Ala1190Thr)
c.3394G>A (p.Ala1132Thr)
n.3545G>A
c.3391G>A (p.Ala1131Thr)
c.3565G>A (p.Ala1189Thr)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.41965505dupCA2695207630GLI3c.3568dup (p.Ala1190GlyfsTer?)
c.3394dup (p.Ala1132GlyfsTer?)
n.3545dup
c.3391dup (p.Ala1131GlyfsTer?)
c.3565dup (p.Ala1189GlyfsTer?)
7g.41965506G>ACA454662758GLI3c.3567C>T (p.Arg1189=)
c.3393C>T (p.Arg1131=)
n.3544C>T
c.3390C>T (p.Arg1130=)
c.3564C>T (p.Arg1188=)
 gnomAD v2 gnomAD v4
7g.41965506G>CCA454662759GLI3c.3567C>G (p.Arg1189=)
c.3393C>G (p.Arg1131=)
n.3544C>G
c.3390C>G (p.Arg1130=)
c.3564C>G (p.Arg1188=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41965506G=CA1702660792GLI3c.3567C= (p.Arg1189=)
c.3393C= (p.Arg1131=)
n.3544C=
c.3390C= (p.Arg1130=)
c.3564C= (p.Arg1188=)
7g.41965506G>TCA454662760GLI3c.3567C>A (p.Arg1189=)
c.3393C>A (p.Arg1131=)
n.3544C>A
c.3390C>A (p.Arg1130=)
c.3564C>A (p.Arg1188=)
7g.41965507C>ACA367317767GLI3c.3566G>T (p.Arg1189Leu)
c.3392G>T (p.Arg1131Leu)
n.3543G>T
c.3389G>T (p.Arg1130Leu)
c.3563G>T (p.Arg1188Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.41965507C=CA1702660793GLI3c.3566G= (p.Arg1189=)
c.3392G= (p.Arg1131=)
n.3543G=
c.3389G= (p.Arg1130=)
c.3563G= (p.Arg1188=)
7g.41965507C>GCA367317768GLI3c.3566G>C (p.Arg1189Pro)
c.3392G>C (p.Arg1131Pro)
n.3543G>C
c.3389G>C (p.Arg1130Pro)
c.3563G>C (p.Arg1188Pro)
7g.41965507C>TCA367317769GLI3c.3566G>A (p.Arg1189His)
c.3392G>A (p.Arg1131His)
n.3543G>A
c.3389G>A (p.Arg1130His)
c.3563G>A (p.Arg1188His)
 gnomAD v4 COSMIC
7g.41965507dupCA573855668GLI3c.3566dup (p.Ala1190ArgfsTer?)
c.3392dup (p.Ala1132ArgfsTer?)
n.3543dup
c.3389dup (p.Ala1131ArgfsTer?)
c.3563dup (p.Ala1189ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
7g.41965508G>ACA367317770GLI3c.3565C>T (p.Arg1189Cys)
c.3391C>T (p.Arg1131Cys)
n.3542C>T
c.3388C>T (p.Arg1130Cys)
c.3562C>T (p.Arg1188Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41965508G>CCA367317772GLI3c.3565C>G (p.Arg1189Gly)
c.3391C>G (p.Arg1131Gly)
n.3542C>G
c.3388C>G (p.Arg1130Gly)
c.3562C>G (p.Arg1188Gly)
 gnomAD v4
7g.41965508G=CA1702660794GLI3c.3565C= (p.Arg1189=)
c.3391C= (p.Arg1131=)
n.3542C=
c.3388C= (p.Arg1130=)
c.3562C= (p.Arg1188=)
7g.41965508G>TCA367317771GLI3c.3565C>A (p.Arg1189Ser)
c.3391C>A (p.Arg1131Ser)
n.3542C>A
c.3388C>A (p.Arg1130Ser)
c.3562C>A (p.Arg1188Ser)
7g.41965509_41965532delCA2682510063GLI3c.3542_3565del (p.Pro1181_Thr1188del)
c.3368_3391del (p.Pro1123_Thr1130del)
n.3519_3542del
c.3365_3388del (p.Pro1122_Thr1129del)
c.3539_3562del (p.Pro1180_Thr1187del)
 gnomAD v4
7g.41965509A>CCA454662764GLI3c.3564T>G (p.Thr1188=)
c.3390T>G (p.Thr1130=)
n.3541T>G
c.3387T>G (p.Thr1129=)
c.3561T>G (p.Thr1187=)
7g.41965509A>GCA454662765GLI3c.3564T>C (p.Thr1188=)
c.3390T>C (p.Thr1130=)
n.3541T>C
c.3387T>C (p.Thr1129=)
c.3561T>C (p.Thr1187=)
 gnomAD v4
7g.41965509A>TCA454662766GLI3c.3564T>A (p.Thr1188=)
c.3390T>A (p.Thr1130=)
n.3541T>A
c.3387T>A (p.Thr1129=)
c.3561T>A (p.Thr1187=)
7g.41965510G>ACA367317773GLI3c.3563C>T (p.Thr1188Ile)
c.3389C>T (p.Thr1130Ile)
n.3540C>T
c.3386C>T (p.Thr1129Ile)
c.3560C>T (p.Thr1187Ile)
 gnomAD v4
7g.41965510G>CCA367317774GLI3c.3563C>G (p.Thr1188Ser)
c.3389C>G (p.Thr1130Ser)
n.3540C>G
c.3386C>G (p.Thr1129Ser)
c.3560C>G (p.Thr1187Ser)
7g.41965510G>TCA367317775GLI3c.3563C>A (p.Thr1188Asn)
c.3389C>A (p.Thr1130Asn)
n.3540C>A
c.3386C>A (p.Thr1129Asn)
c.3560C>A (p.Thr1187Asn)
7g.41965511T>ACA367317776GLI3c.3562A>T (p.Thr1188Ser)
c.3388A>T (p.Thr1130Ser)
n.3539A>T
c.3385A>T (p.Thr1129Ser)
c.3559A>T (p.Thr1187Ser)
7g.41965511T>CCA367317777GLI3c.3562A>G (p.Thr1188Ala)
c.3388A>G (p.Thr1130Ala)
n.3539A>G
c.3385A>G (p.Thr1129Ala)
c.3559A>G (p.Thr1187Ala)
7g.41965511T>GCA367317778GLI3c.3562A>C (p.Thr1188Pro)
c.3388A>C (p.Thr1130Pro)
n.3539A>C
c.3385A>C (p.Thr1129Pro)
c.3559A>C (p.Thr1187Pro)
7g.41965512C>ACA367317779GLI3c.3561G>T (p.Gln1187His)
c.3387G>T (p.Gln1129His)
n.3538G>T
c.3384G>T (p.Gln1128His)
c.3558G>T (p.Gln1186His)
7g.41965512C=CA1702660795GLI3c.3561G= (p.Gln1187=)
c.3387G= (p.Gln1129=)
n.3538G=
c.3384G= (p.Gln1128=)
c.3558G= (p.Gln1186=)
7g.41965512C>GCA4230334GLI3c.3561G>C (p.Gln1187His)
c.3387G>C (p.Gln1129His)
n.3538G>C
c.3384G>C (p.Gln1128His)
c.3558G>C (p.Gln1186His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965512C>TCA454662769GLI3c.3561G>A (p.Gln1187=)
c.3387G>A (p.Gln1129=)
n.3538G>A
c.3384G>A (p.Gln1128=)
c.3558G>A (p.Gln1186=)
7g.41965513T>ACA367317780GLI3c.3560A>T (p.Gln1187Leu)
c.3386A>T (p.Gln1129Leu)
n.3537A>T
c.3383A>T (p.Gln1128Leu)
c.3557A>T (p.Gln1186Leu)
7g.41965513T>CCA367317781GLI3c.3560A>G (p.Gln1187Arg)
c.3386A>G (p.Gln1129Arg)
n.3537A>G
c.3383A>G (p.Gln1128Arg)
c.3557A>G (p.Gln1186Arg)
 COSMIC
7g.41965513T>GCA367317782GLI3c.3560A>C (p.Gln1187Pro)
c.3386A>C (p.Gln1129Pro)
n.3537A>C
c.3383A>C (p.Gln1128Pro)
c.3557A>C (p.Gln1186Pro)
7g.41965513T=CA1702660796GLI3c.3560A= (p.Gln1187=)
c.3386A= (p.Gln1129=)
n.3537A=
c.3383A= (p.Gln1128=)
c.3557A= (p.Gln1186=)
7g.41965514G>ACA367317785GLI3c.3559C>T (p.Gln1187Ter)
c.3385C>T (p.Gln1129Ter)
n.3536C>T
c.3382C>T (p.Gln1128Ter)
c.3556C>T (p.Gln1186Ter)
 gnomAD v4
7g.41965514G>CCA367317784GLI3c.3559C>G (p.Gln1187Glu)
c.3385C>G (p.Gln1129Glu)
n.3536C>G
c.3382C>G (p.Gln1128Glu)
c.3556C>G (p.Gln1186Glu)
7g.41965514G=CA1702660797GLI3c.3559C= (p.Gln1187=)
c.3385C= (p.Gln1129=)
n.3536C=
c.3382C= (p.Gln1128=)
c.3556C= (p.Gln1186=)
7g.41965514G>TCA367317783GLI3c.3559C>A (p.Gln1187Lys)
c.3385C>A (p.Gln1129Lys)
n.3536C>A
c.3382C>A (p.Gln1128Lys)
c.3556C>A (p.Gln1186Lys)
 dbSNP gnomAD v3 gnomAD v4
7g.41965519_41965533dupCA1702660798GLI3c.3545_3559dup (p.Pro1186_Gln1187insArgProAlaValPro)
c.3371_3385dup (p.Pro1128_Gln1129insArgProAlaValPro)
n.3522_3536dup
c.3368_3382dup (p.Pro1127_Gln1128insArgProAlaValPro)
c.3542_3556dup (p.Pro1185_Gln1186insArgProAlaValPro)
 dbSNP
7g.41965515C>ACA454662774GLI3c.3558G>T (p.Pro1186=)
c.3384G>T (p.Pro1128=)
n.3535G>T
c.3381G>T (p.Pro1127=)
c.3555G>T (p.Pro1185=)
 gnomAD v4 COSMIC
7g.41965515C=CA1702660799GLI3c.3558G= (p.Pro1186=)
c.3384G= (p.Pro1128=)
n.3535G=
c.3381G= (p.Pro1127=)
c.3555G= (p.Pro1185=)
7g.41965515C>GCA454662773GLI3c.3558G>C (p.Pro1186=)
c.3384G>C (p.Pro1128=)
n.3535G>C
c.3381G>C (p.Pro1127=)
c.3555G>C (p.Pro1185=)
7g.41965515C>TCA4230335GLI3c.3558G>A (p.Pro1186=)
c.3384G>A (p.Pro1128=)
n.3535G>A
c.3381G>A (p.Pro1127=)
c.3555G>A (p.Pro1185=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41965516G>ACA4230336GLI3c.3557C>T (p.Pro1186Leu)
c.3383C>T (p.Pro1128Leu)
n.3534C>T
c.3380C>T (p.Pro1127Leu)
c.3554C>T (p.Pro1185Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41965516G>CCA367317786GLI3c.3557C>G (p.Pro1186Arg)
c.3383C>G (p.Pro1128Arg)
n.3534C>G
c.3380C>G (p.Pro1127Arg)
c.3554C>G (p.Pro1185Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.41965516G=CA1702660800GLI3c.3557C= (p.Pro1186=)
c.3383C= (p.Pro1128=)
n.3534C=
c.3380C= (p.Pro1127=)
c.3554C= (p.Pro1185=)
7g.41965516G>TCA367317787GLI3c.3557C>A (p.Pro1186Gln)
c.3383C>A (p.Pro1128Gln)
n.3534C>A
c.3380C>A (p.Pro1127Gln)
c.3554C>A (p.Pro1185Gln)
7g.41965517G>ACA367317788GLI3c.3556C>T (p.Pro1186Ser)
c.3382C>T (p.Pro1128Ser)
n.3533C>T
c.3379C>T (p.Pro1127Ser)
c.3553C>T (p.Pro1185Ser)
 gnomAD v4
7g.41965517G>CCA367317789GLI3c.3556C>G (p.Pro1186Ala)
c.3382C>G (p.Pro1128Ala)
n.3533C>G
c.3379C>G (p.Pro1127Ala)
c.3553C>G (p.Pro1185Ala)
7g.41965517G>TCA367317790GLI3c.3556C>A (p.Pro1186Thr)
c.3382C>A (p.Pro1128Thr)
n.3533C>A
c.3379C>A (p.Pro1127Thr)
c.3553C>A (p.Pro1185Thr)
7g.41965518C>ACA454662776GLI3c.3555G>T (p.Val1185=)
c.3381G>T (p.Val1127=)
n.3532G>T
c.3378G>T (p.Val1126=)
c.3552G>T (p.Val1184=)
7g.41965518C>GCA454662777GLI3c.3555G>C (p.Val1185=)
c.3381G>C (p.Val1127=)
n.3532G>C
c.3378G>C (p.Val1126=)
c.3552G>C (p.Val1184=)
7g.41965518C>TCA454662778GLI3c.3555G>A (p.Val1185=)
c.3381G>A (p.Val1127=)
n.3532G>A
c.3378G>A (p.Val1126=)
c.3552G>A (p.Val1184=)
7g.41965519A=CA1702660801GLI3c.3554T= (p.Val1185=)
c.3380T= (p.Val1127=)
n.3531T=
c.3377T= (p.Val1126=)
c.3551T= (p.Val1184=)
7g.41965519A>CCA4230337GLI3c.3554T>G (p.Val1185Gly)
c.3380T>G (p.Val1127Gly)
n.3531T>G
c.3377T>G (p.Val1126Gly)
c.3551T>G (p.Val1184Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965519A>GCA367317791GLI3c.3554T>C (p.Val1185Ala)
c.3380T>C (p.Val1127Ala)
n.3531T>C
c.3377T>C (p.Val1126Ala)
c.3551T>C (p.Val1184Ala)
7g.41965519A>TCA367317792GLI3c.3554T>A (p.Val1185Glu)
c.3380T>A (p.Val1127Glu)
n.3531T>A
c.3377T>A (p.Val1126Glu)
c.3551T>A (p.Val1184Glu)
7g.41965520C>ACA367317793GLI3c.3553G>T (p.Val1185Leu)
c.3379G>T (p.Val1127Leu)
n.3530G>T
c.3376G>T (p.Val1126Leu)
c.3550G>T (p.Val1184Leu)
7g.41965520C>GCA367317794GLI3c.3553G>C (p.Val1185Leu)
c.3379G>C (p.Val1127Leu)
n.3530G>C
c.3376G>C (p.Val1126Leu)
c.3550G>C (p.Val1184Leu)
7g.41965520C>TCA367317795GLI3c.3553G>A (p.Val1185Met)
c.3379G>A (p.Val1127Met)
n.3530G>A
c.3376G>A (p.Val1126Met)
c.3550G>A (p.Val1184Met)
7g.41965521A>CCA454662782GLI3c.3552T>G (p.Ala1184=)
c.3378T>G (p.Ala1126=)
n.3529T>G
c.3375T>G (p.Ala1125=)
c.3549T>G (p.Ala1183=)
7g.41965521A>GCA454662779GLI3c.3552T>C (p.Ala1184=)
c.3378T>C (p.Ala1126=)
n.3529T>C
c.3375T>C (p.Ala1125=)
c.3549T>C (p.Ala1183=)
7g.41965521A>TCA454662781GLI3c.3552T>A (p.Ala1184=)
c.3378T>A (p.Ala1126=)
n.3529T>A
c.3375T>A (p.Ala1125=)
c.3549T>A (p.Ala1183=)
7g.41965522G>ACA367317797GLI3c.3551C>T (p.Ala1184Val)
c.3377C>T (p.Ala1126Val)
n.3528C>T
c.3374C>T (p.Ala1125Val)
c.3548C>T (p.Ala1183Val)
 gnomAD v4
7g.41965522G>CCA367317798GLI3c.3551C>G (p.Ala1184Gly)
c.3377C>G (p.Ala1126Gly)
n.3528C>G
c.3374C>G (p.Ala1125Gly)
c.3548C>G (p.Ala1183Gly)
7g.41965522G=CA1702660802GLI3c.3551C= (p.Ala1184=)
c.3377C= (p.Ala1126=)
n.3528C=
c.3374C= (p.Ala1125=)
c.3548C= (p.Ala1183=)
7g.41965522G>TCA367317796GLI3c.3551C>A (p.Ala1184Asp)
c.3377C>A (p.Ala1126Asp)
n.3528C>A
c.3374C>A (p.Ala1125Asp)
c.3548C>A (p.Ala1183Asp)
 dbSNP gnomAD v4
7g.41965523C>ACA367317800GLI3c.3550G>T (p.Ala1184Ser)
c.3376G>T (p.Ala1126Ser)
n.3527G>T
c.3373G>T (p.Ala1125Ser)
c.3547G>T (p.Ala1183Ser)
 gnomAD v4
7g.41965523C=CA1702660803GLI3c.3550G= (p.Ala1184=)
c.3376G= (p.Ala1126=)
n.3527G=
c.3373G= (p.Ala1125=)
c.3547G= (p.Ala1183=)
7g.41965523C>GCA367317799GLI3c.3550G>C (p.Ala1184Pro)
c.3376G>C (p.Ala1126Pro)
n.3527G>C
c.3373G>C (p.Ala1125Pro)
c.3547G>C (p.Ala1183Pro)
7g.41965523C>TCA367317801GLI3c.3550G>A (p.Ala1184Thr)
c.3376G>A (p.Ala1126Thr)
n.3527G>A
c.3373G>A (p.Ala1125Thr)
c.3547G>A (p.Ala1183Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.41965524_41965534delCA2580077121GLI3c.3540_3550del (p.Pro1181CysfsTer?)
c.3366_3376del (p.Pro1123CysfsTer?)
n.3517_3527del
c.3363_3373del (p.Pro1122CysfsTer?)
c.3537_3547del (p.Pro1180CysfsTer?)
 ClinVar dbSNP
7g.41965524G>ACA4230338GLI3c.3549C>T (p.Pro1183=)
c.3375C>T (p.Pro1125=)
n.3526C>T
c.3372C>T (p.Pro1124=)
c.3546C>T (p.Pro1182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965524G>CCA4230339GLI3c.3549C>G (p.Pro1183=)
c.3375C>G (p.Pro1125=)
n.3526C>G
c.3372C>G (p.Pro1124=)
c.3546C>G (p.Pro1182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965524G=CA1702660804GLI3c.3549C= (p.Pro1183=)
c.3375C= (p.Pro1125=)
n.3526C=
c.3372C= (p.Pro1124=)
c.3546C= (p.Pro1182=)
7g.41965524G>TCA454662783GLI3c.3549C>A (p.Pro1183=)
c.3375C>A (p.Pro1125=)
n.3526C>A
c.3372C>A (p.Pro1124=)
c.3546C>A (p.Pro1182=)
 dbSNP gnomAD v2 gnomAD v4
7g.41965525G>ACA367317802GLI3c.3548C>T (p.Pro1183Leu)
c.3374C>T (p.Pro1125Leu)
n.3525C>T
c.3371C>T (p.Pro1124Leu)
c.3545C>T (p.Pro1182Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.41965525G>CCA367317803GLI3c.3548C>G (p.Pro1183Arg)
c.3374C>G (p.Pro1125Arg)
n.3525C>G
c.3371C>G (p.Pro1124Arg)
c.3545C>G (p.Pro1182Arg)
7g.41965525G=CA1702660805GLI3c.3548C= (p.Pro1183=)
c.3374C= (p.Pro1125=)
n.3525C=
c.3371C= (p.Pro1124=)
c.3545C= (p.Pro1182=)
7g.41965525G>TCA367317804GLI3c.3548C>A (p.Pro1183His)
c.3374C>A (p.Pro1125His)
n.3525C>A
c.3371C>A (p.Pro1124His)
c.3545C>A (p.Pro1182His)
 gnomAD v4
7g.41965526G>ACA367317805GLI3c.3547C>T (p.Pro1183Ser)
c.3373C>T (p.Pro1125Ser)
n.3524C>T
c.3370C>T (p.Pro1124Ser)
c.3544C>T (p.Pro1182Ser)
 gnomAD v4
7g.41965526G>CCA367317806GLI3c.3547C>G (p.Pro1183Ala)
c.3373C>G (p.Pro1125Ala)
n.3524C>G
c.3370C>G (p.Pro1124Ala)
c.3544C>G (p.Pro1182Ala)
7g.41965526G>TCA367317807GLI3c.3547C>A (p.Pro1183Thr)
c.3373C>A (p.Pro1125Thr)
n.3524C>A
c.3370C>A (p.Pro1124Thr)
c.3544C>A (p.Pro1182Thr)
7g.41965527C>ACA454662787GLI3c.3546G>T (p.Arg1182=)
c.3372G>T (p.Arg1124=)
n.3523G>T
c.3369G>T (p.Arg1123=)
c.3543G>T (p.Arg1181=)
7g.41965527C>GCA454662785GLI3c.3546G>C (p.Arg1182=)
c.3372G>C (p.Arg1124=)
n.3523G>C
c.3369G>C (p.Arg1123=)
c.3543G>C (p.Arg1181=)
7g.41965527C>TCA454662786GLI3c.3546G>A (p.Arg1182=)
c.3372G>A (p.Arg1124=)
n.3523G>A
c.3369G>A (p.Arg1123=)
c.3543G>A (p.Arg1181=)
7g.41965528C>ACA367317808GLI3c.3545G>T (p.Arg1182Leu)
c.3371G>T (p.Arg1124Leu)
n.3522G>T
c.3368G>T (p.Arg1123Leu)
c.3542G>T (p.Arg1181Leu)
 dbSNP gnomAD v3 gnomAD v4
7g.41965528C=CA1702660806GLI3c.3545G= (p.Arg1182=)
c.3371G= (p.Arg1124=)
n.3522G=
c.3368G= (p.Arg1123=)
c.3542G= (p.Arg1181=)
7g.41965528C>GCA367317809GLI3c.3545G>C (p.Arg1182Pro)
c.3371G>C (p.Arg1124Pro)
n.3522G>C
c.3368G>C (p.Arg1123Pro)
c.3542G>C (p.Arg1181Pro)
7g.41965528C>TCA367317810GLI3c.3545G>A (p.Arg1182Gln)
c.3371G>A (p.Arg1124Gln)
n.3522G>A
c.3368G>A (p.Arg1123Gln)
c.3542G>A (p.Arg1181Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41965529G>ACA367317811GLI3c.3544C>T (p.Arg1182Trp)
c.3370C>T (p.Arg1124Trp)
n.3521C>T
c.3367C>T (p.Arg1123Trp)
c.3541C>T (p.Arg1181Trp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.41965529G>CCA367317812GLI3c.3544C>G (p.Arg1182Gly)
c.3370C>G (p.Arg1124Gly)
n.3521C>G
c.3367C>G (p.Arg1123Gly)
c.3541C>G (p.Arg1181Gly)
7g.41965529G=CA1702660807GLI3c.3544C= (p.Arg1182=)
c.3370C= (p.Arg1124=)
n.3521C=
c.3367C= (p.Arg1123=)
c.3541C= (p.Arg1181=)
7g.41965529G>TCA454662790GLI3c.3544C>A (p.Arg1182=)
c.3370C>A (p.Arg1124=)
n.3521C>A
c.3367C>A (p.Arg1123=)
c.3541C>A (p.Arg1181=)
7g.41965530C>ACA156903813GLI3c.3543G>T (p.Pro1181=)
c.3369G>T (p.Pro1123=)
n.3520G>T
c.3366G>T (p.Pro1122=)
c.3540G>T (p.Pro1180=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41965530C=CA1702660808GLI3c.3543G= (p.Pro1181=)
c.3369G= (p.Pro1123=)
n.3520G=
c.3366G= (p.Pro1122=)
c.3540G= (p.Pro1180=)
7g.41965530C>GCA454662791GLI3c.3543G>C (p.Pro1181=)
c.3369G>C (p.Pro1123=)
n.3520G>C
c.3366G>C (p.Pro1122=)
c.3540G>C (p.Pro1180=)
 gnomAD v4
7g.41965530C>TCA454662793GLI3c.3543G>A (p.Pro1181=)
c.3369G>A (p.Pro1123=)
n.3520G>A
c.3366G>A (p.Pro1122=)
c.3540G>A (p.Pro1180=)
 dbSNP gnomAD v2 gnomAD v4
7g.41965531G>ACA367317813GLI3c.3542C>T (p.Pro1181Leu)
c.3368C>T (p.Pro1123Leu)
n.3519C>T
c.3365C>T (p.Pro1122Leu)
c.3539C>T (p.Pro1180Leu)
 dbSNP gnomAD v2 COSMIC
7g.41965531G>CCA367317815GLI3c.3542C>G (p.Pro1181Arg)
c.3368C>G (p.Pro1123Arg)
n.3519C>G
c.3365C>G (p.Pro1122Arg)
c.3539C>G (p.Pro1180Arg)
7g.41965531G=CA1702660809GLI3c.3542C= (p.Pro1181=)
c.3368C= (p.Pro1123=)
n.3519C=
c.3365C= (p.Pro1122=)
c.3539C= (p.Pro1180=)
7g.41965531G>TCA367317814GLI3c.3542C>A (p.Pro1181Gln)
c.3368C>A (p.Pro1123Gln)
n.3519C>A
c.3365C>A (p.Pro1122Gln)
c.3539C>A (p.Pro1180Gln)
7g.41965532G>ACA367317816GLI3c.3541C>T (p.Pro1181Ser)
c.3367C>T (p.Pro1123Ser)
n.3518C>T
c.3364C>T (p.Pro1122Ser)
c.3538C>T (p.Pro1180Ser)
 gnomAD v4
7g.41965532G>CCA367317817GLI3c.3541C>G (p.Pro1181Ala)
c.3367C>G (p.Pro1123Ala)
n.3518C>G
c.3364C>G (p.Pro1122Ala)
c.3538C>G (p.Pro1180Ala)
7g.41965532G>TCA367317818GLI3c.3541C>A (p.Pro1181Thr)
c.3367C>A (p.Pro1123Thr)
n.3518C>A
c.3364C>A (p.Pro1122Thr)
c.3538C>A (p.Pro1180Thr)
 gnomAD v4
7g.41965533C>ACA454662795GLI3c.3540G>T (p.Gly1180=)
c.3366G>T (p.Gly1122=)
n.3517G>T
c.3363G>T (p.Gly1121=)
c.3537G>T (p.Gly1179=)
7g.41965533C=CA1702660810GLI3c.3540G= (p.Gly1180=)
c.3366G= (p.Gly1122=)
n.3517G=
c.3363G= (p.Gly1121=)
c.3537G= (p.Gly1179=)
7g.41965533C>GCA454662796GLI3c.3540G>C (p.Gly1180=)
c.3366G>C (p.Gly1122=)
n.3517G>C
c.3363G>C (p.Gly1121=)
c.3537G>C (p.Gly1179=)
7g.41965533C>TCA4230340GLI3c.3540G>A (p.Gly1180=)
c.3366G>A (p.Gly1122=)
n.3517G>A
c.3363G>A (p.Gly1121=)
c.3537G>A (p.Gly1179=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965534C>ACA367317819GLI3c.3539G>T (p.Gly1180Val)
c.3365G>T (p.Gly1122Val)
n.3516G>T
c.3362G>T (p.Gly1121Val)
c.3536G>T (p.Gly1179Val)
 gnomAD v4
7g.41965534C=CA1702660811GLI3c.3539G= (p.Gly1180=)
c.3365G= (p.Gly1122=)
n.3516G=
c.3362G= (p.Gly1121=)
c.3536G= (p.Gly1179=)
7g.41965534C>GCA4230341GLI3c.3539G>C (p.Gly1180Ala)
c.3365G>C (p.Gly1122Ala)
n.3516G>C
c.3362G>C (p.Gly1121Ala)
c.3536G>C (p.Gly1179Ala)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
7g.41965534C>TCA367317820GLI3c.3539G>A (p.Gly1180Glu)
c.3365G>A (p.Gly1122Glu)
n.3516G>A
c.3362G>A (p.Gly1121Glu)
c.3536G>A (p.Gly1179Glu)
7g.41965535C>ACA367317821GLI3c.3538G>T (p.Gly1180Trp)
c.3364G>T (p.Gly1122Trp)
n.3515G>T
c.3361G>T (p.Gly1121Trp)
c.3535G>T (p.Gly1179Trp)
 gnomAD v4
7g.41965535C=CA1702660812GLI3c.3538G= (p.Gly1180=)
c.3364G= (p.Gly1122=)
n.3515G=
c.3361G= (p.Gly1121=)
c.3535G= (p.Gly1179=)
7g.41965535C>GCA367317822GLI3c.3538G>C (p.Gly1180Arg)
c.3364G>C (p.Gly1122Arg)
n.3515G>C
c.3361G>C (p.Gly1121Arg)
c.3535G>C (p.Gly1179Arg)
 dbSNP gnomAD v2
7g.41965535C>TCA367317823GLI3c.3538G>A (p.Gly1180Arg)
c.3364G>A (p.Gly1122Arg)
n.3515G>A
c.3361G>A (p.Gly1121Arg)
c.3535G>A (p.Gly1179Arg)
7g.41965536A>CCA367317825GLI3c.3537T>G (p.Cys1179Trp)
c.3363T>G (p.Cys1121Trp)
n.3514T>G
c.3360T>G (p.Cys1120Trp)
c.3534T>G (p.Cys1178Trp)
7g.41965536A>GCA454662800GLI3c.3537T>C (p.Cys1179=)
c.3363T>C (p.Cys1121=)
n.3514T>C
c.3360T>C (p.Cys1120=)
c.3534T>C (p.Cys1178=)
 gnomAD v4
7g.41965536A>TCA367317824GLI3c.3537T>A (p.Cys1179Ter)
c.3363T>A (p.Cys1121Ter)
n.3514T>A
c.3360T>A (p.Cys1120Ter)
c.3534T>A (p.Cys1178Ter)
7g.41965537C>ACA367317826GLI3c.3536G>T (p.Cys1179Phe)
c.3362G>T (p.Cys1121Phe)
n.3513G>T
c.3359G>T (p.Cys1120Phe)
c.3533G>T (p.Cys1178Phe)
7g.41965537C>GCA367317827GLI3c.3536G>C (p.Cys1179Ser)
c.3362G>C (p.Cys1121Ser)
n.3513G>C
c.3359G>C (p.Cys1120Ser)
c.3533G>C (p.Cys1178Ser)
7g.41965537C>TCA367317828GLI3c.3536G>A (p.Cys1179Tyr)
c.3362G>A (p.Cys1121Tyr)
n.3513G>A
c.3359G>A (p.Cys1120Tyr)
c.3533G>A (p.Cys1178Tyr)
7g.41965538A>CCA367317829GLI3c.3535T>G (p.Cys1179Gly)
c.3361T>G (p.Cys1121Gly)
n.3512T>G
c.3358T>G (p.Cys1120Gly)
c.3532T>G (p.Cys1178Gly)
 gnomAD v4
7g.41965538A>GCA367317830GLI3c.3535T>C (p.Cys1179Arg)
c.3361T>C (p.Cys1121Arg)
n.3512T>C
c.3358T>C (p.Cys1120Arg)
c.3532T>C (p.Cys1178Arg)
7g.41965538A>TCA367317831GLI3c.3535T>A (p.Cys1179Ser)
c.3361T>A (p.Cys1121Ser)
n.3512T>A
c.3358T>A (p.Cys1120Ser)
c.3532T>A (p.Cys1178Ser)
7g.41965539C>ACA367317832GLI3c.3534G>T (p.Lys1178Asn)
c.3360G>T (p.Lys1120Asn)
n.3511G>T
c.3357G>T (p.Lys1119Asn)
c.3531G>T (p.Lys1177Asn)
 gnomAD v4
7g.41965539C=CA1702660813GLI3c.3534G= (p.Lys1178=)
c.3360G= (p.Lys1120=)
n.3511G=
c.3357G= (p.Lys1119=)
c.3531G= (p.Lys1177=)
7g.41965539C>GCA156903847GLI3c.3534G>C (p.Lys1178Asn)
c.3360G>C (p.Lys1120Asn)
n.3511G>C
c.3357G>C (p.Lys1119Asn)
c.3531G>C (p.Lys1177Asn)
 dbSNP gnomAD v3 gnomAD v4
7g.41965539C>TCA454662802GLI3c.3534G>A (p.Lys1178=)
c.3360G>A (p.Lys1120=)
n.3511G>A
c.3357G>A (p.Lys1119=)
c.3531G>A (p.Lys1177=)
 dbSNP
7g.41965540T>ACA367317833GLI3c.3533A>T (p.Lys1178Met)
c.3359A>T (p.Lys1120Met)
n.3510A>T
c.3356A>T (p.Lys1119Met)
c.3530A>T (p.Lys1177Met)
7g.41965540T>CCA367317834GLI3c.3533A>G (p.Lys1178Arg)
c.3359A>G (p.Lys1120Arg)
n.3510A>G
c.3356A>G (p.Lys1119Arg)
c.3530A>G (p.Lys1177Arg)
 gnomAD v4
7g.41965540T>GCA367317835GLI3c.3533A>C (p.Lys1178Thr)
c.3359A>C (p.Lys1120Thr)
n.3510A>C
c.3356A>C (p.Lys1119Thr)
c.3530A>C (p.Lys1177Thr)
7g.41965541T>ACA367317836GLI3c.3532A>T (p.Lys1178Ter)
c.3358A>T (p.Lys1120Ter)
n.3509A>T
c.3355A>T (p.Lys1119Ter)
c.3529A>T (p.Lys1177Ter)
7g.41965541T>CCA367317837GLI3c.3532A>G (p.Lys1178Glu)
c.3358A>G (p.Lys1120Glu)
n.3509A>G
c.3355A>G (p.Lys1119Glu)
c.3529A>G (p.Lys1177Glu)
 COSMIC
7g.41965541T>GCA367317838GLI3c.3532A>C (p.Lys1178Gln)
c.3358A>C (p.Lys1120Gln)
n.3509A>C
c.3355A>C (p.Lys1119Gln)
c.3529A>C (p.Lys1177Gln)
 dbSNP gnomAD v4
7g.41965541T=CA1702660814GLI3c.3532A= (p.Lys1178=)
c.3358A= (p.Lys1120=)
n.3509A=
c.3355A= (p.Lys1119=)
c.3529A= (p.Lys1177=)
7g.41965542G>ACA454662804GLI3c.3531C>T (p.Leu1177=)
c.3357C>T (p.Leu1119=)
n.3508C>T
c.3354C>T (p.Leu1118=)
c.3528C>T (p.Leu1176=)
 COSMIC
7g.41965542G>CCA454662806GLI3c.3531C>G (p.Leu1177=)
c.3357C>G (p.Leu1119=)
n.3508C>G
c.3354C>G (p.Leu1118=)
c.3528C>G (p.Leu1176=)
 gnomAD v4
7g.41965542G>TCA454662808GLI3c.3531C>A (p.Leu1177=)
c.3357C>A (p.Leu1119=)
n.3508C>A
c.3354C>A (p.Leu1118=)
c.3528C>A (p.Leu1176=)
7g.41965543A=CA1702660815GLI3c.3530T= (p.Leu1177=)
c.3356T= (p.Leu1119=)
n.3507T=
c.3353T= (p.Leu1118=)
c.3527T= (p.Leu1176=)
7g.41965543A>CCA367317839GLI3c.3530T>G (p.Leu1177Arg)
c.3356T>G (p.Leu1119Arg)
n.3507T>G
c.3353T>G (p.Leu1118Arg)
c.3527T>G (p.Leu1176Arg)
7g.41965543A>GCA367317841GLI3c.3530T>C (p.Leu1177Pro)
c.3356T>C (p.Leu1119Pro)
n.3507T>C
c.3353T>C (p.Leu1118Pro)
c.3527T>C (p.Leu1176Pro)
 dbSNP gnomAD v4
7g.41965543A>TCA367317840GLI3c.3530T>A (p.Leu1177His)
c.3356T>A (p.Leu1119His)
n.3507T>A
c.3353T>A (p.Leu1118His)
c.3527T>A (p.Leu1176His)
7g.41965544G>ACA367317842GLI3c.3529C>T (p.Leu1177Phe)
c.3355C>T (p.Leu1119Phe)
n.3506C>T
c.3352C>T (p.Leu1118Phe)
c.3526C>T (p.Leu1176Phe)
7g.41965544G>CCA367317843GLI3c.3529C>G (p.Leu1177Val)
c.3355C>G (p.Leu1119Val)
n.3506C>G
c.3352C>G (p.Leu1118Val)
c.3526C>G (p.Leu1176Val)
 gnomAD v4
7g.41965544G>TCA367317844GLI3c.3529C>A (p.Leu1177Ile)
c.3355C>A (p.Leu1119Ile)
n.3506C>A
c.3352C>A (p.Leu1118Ile)
c.3526C>A (p.Leu1176Ile)
7g.41965545C>ACA367317845GLI3c.3528G>T (p.Lys1176Asn)
c.3354G>T (p.Lys1118Asn)
n.3505G>T
c.3351G>T (p.Lys1117Asn)
c.3525G>T (p.Lys1175Asn)
7g.41965545C=CA1702660816GLI3c.3528G= (p.Lys1176=)
c.3354G= (p.Lys1118=)
n.3505G=
c.3351G= (p.Lys1117=)
c.3525G= (p.Lys1175=)
7g.41965545C>GCA4230342GLI3c.3528G>C (p.Lys1176Asn)
c.3354G>C (p.Lys1118Asn)
n.3505G>C
c.3351G>C (p.Lys1117Asn)
c.3525G>C (p.Lys1175Asn)
 dbSNP ExAC gnomAD v3 gnomAD v4
7g.41965545C>TCA454662810GLI3c.3528G>A (p.Lys1176=)
c.3354G>A (p.Lys1118=)
n.3505G>A
c.3351G>A (p.Lys1117=)
c.3525G>A (p.Lys1175=)
 gnomAD v4
7g.41965546T>ACA367317846GLI3c.3527A>T (p.Lys1176Met)
c.3353A>T (p.Lys1118Met)
n.3504A>T
c.3350A>T (p.Lys1117Met)
c.3524A>T (p.Lys1175Met)
7g.41965546T>CCA367317847GLI3c.3527A>G (p.Lys1176Arg)
c.3353A>G (p.Lys1118Arg)
n.3504A>G
c.3350A>G (p.Lys1117Arg)
c.3524A>G (p.Lys1175Arg)
7g.41965546T>GCA367317848GLI3c.3527A>C (p.Lys1176Thr)
c.3353A>C (p.Lys1118Thr)
n.3504A>C
c.3350A>C (p.Lys1117Thr)
c.3524A>C (p.Lys1175Thr)
7g.41965547T>ACA367317849GLI3c.3526A>T (p.Lys1176Ter)
c.3352A>T (p.Lys1118Ter)
n.3503A>T
c.3349A>T (p.Lys1117Ter)
c.3523A>T (p.Lys1175Ter)
7g.41965547T>CCA367317850GLI3c.3526A>G (p.Lys1176Glu)
c.3352A>G (p.Lys1118Glu)
n.3503A>G
c.3349A>G (p.Lys1117Glu)
c.3523A>G (p.Lys1175Glu)
 ClinVar
7g.41965547T>GCA367317851GLI3c.3526A>C (p.Lys1176Gln)
c.3352A>C (p.Lys1118Gln)
n.3503A>C
c.3349A>C (p.Lys1117Gln)
c.3523A>C (p.Lys1175Gln)
7g.41965547_41965550delinsTGGACA1702660817GLI3c.3523_3526delinsTCCA (p.Ser1175=)
c.3349_3352delinsTCCA (p.Ser1117=)
n.3500_3503delinsTCCA
c.3346_3349delinsTCCA (p.Ser1116=)
c.3520_3523delinsTCCA (p.Ser1174=)
7g.41965548G>ACA454662814GLI3c.3525C>T (p.Ser1175=)
c.3351C>T (p.Ser1117=)
n.3502C>T
c.3348C>T (p.Ser1116=)
c.3522C>T (p.Ser1174=)
7g.41965548G>CCA454662816GLI3c.3525C>G (p.Ser1175=)
c.3351C>G (p.Ser1117=)
n.3502C>G
c.3348C>G (p.Ser1116=)
c.3522C>G (p.Ser1174=)
 gnomAD v4
7g.41965548G>TCA454662815GLI3c.3525C>A (p.Ser1175=)
c.3351C>A (p.Ser1117=)
n.3502C>A
c.3348C>A (p.Ser1116=)
c.3522C>A (p.Ser1174=)
7g.41965554_41965556delCA573855669GLI3c.3523_3525del (p.Ser1175del)
c.3349_3351del (p.Ser1117del)
n.3500_3502del
c.3346_3348del (p.Ser1116del)
c.3520_3522del (p.Ser1174del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.41965549G>ACA367317853GLI3c.3524C>T (p.Ser1175Phe)
c.3350C>T (p.Ser1117Phe)
n.3501C>T
c.3347C>T (p.Ser1116Phe)
c.3521C>T (p.Ser1174Phe)
7g.41965549G>CCA367317854GLI3c.3524C>G (p.Ser1175Cys)
c.3350C>G (p.Ser1117Cys)
n.3501C>G
c.3347C>G (p.Ser1116Cys)
c.3521C>G (p.Ser1174Cys)
7g.41965549G>TCA367317852GLI3c.3524C>A (p.Ser1175Tyr)
c.3350C>A (p.Ser1117Tyr)
n.3501C>A
c.3347C>A (p.Ser1116Tyr)
c.3521C>A (p.Ser1174Tyr)
7g.41965550delCA2695198480GLI3c.3523del (p.Ser1175ProfsTer?)
c.3349del (p.Ser1117ProfsTer?)
n.3500del
c.3346del (p.Ser1116ProfsTer?)
c.3520del (p.Ser1174ProfsTer?)
 ClinVar
7g.41965550A>CCA367317857GLI3c.3523T>G (p.Ser1175Ala)
c.3349T>G (p.Ser1117Ala)
n.3500T>G
c.3346T>G (p.Ser1116Ala)
c.3520T>G (p.Ser1174Ala)
7g.41965550A>GCA367317855GLI3c.3523T>C (p.Ser1175Pro)
c.3349T>C (p.Ser1117Pro)
n.3500T>C
c.3346T>C (p.Ser1116Pro)
c.3520T>C (p.Ser1174Pro)
7g.41965550A>TCA367317856GLI3c.3523T>A (p.Ser1175Thr)
c.3349T>A (p.Ser1117Thr)
n.3500T>A
c.3346T>A (p.Ser1116Thr)
c.3520T>A (p.Ser1174Thr)
7g.41965551G>ACA454662820GLI3c.3522C>T (p.Ser1174=)
c.3348C>T (p.Ser1116=)
n.3499C>T
c.3345C>T (p.Ser1115=)
c.3519C>T (p.Ser1173=)
 ClinVar dbSNP
7g.41965551G>CCA454662821GLI3c.3522C>G (p.Ser1174=)
c.3348C>G (p.Ser1116=)
n.3499C>G
c.3345C>G (p.Ser1115=)
c.3519C>G (p.Ser1173=)
7g.41965551G=CA1702660818GLI3c.3522C= (p.Ser1174=)
c.3348C= (p.Ser1116=)
n.3499C=
c.3345C= (p.Ser1115=)
c.3519C= (p.Ser1173=)
7g.41965551G>TCA454662822GLI3c.3522C>A (p.Ser1174=)
c.3348C>A (p.Ser1116=)
n.3499C>A
c.3345C>A (p.Ser1115=)
c.3519C>A (p.Ser1173=)
7g.41965552G>ACA367317858GLI3c.3521C>T (p.Ser1174Phe)
c.3347C>T (p.Ser1116Phe)
n.3498C>T
c.3344C>T (p.Ser1115Phe)
c.3518C>T (p.Ser1173Phe)
7g.41965552G>CCA367317859GLI3c.3521C>G (p.Ser1174Cys)
c.3347C>G (p.Ser1116Cys)
n.3498C>G
c.3344C>G (p.Ser1115Cys)
c.3518C>G (p.Ser1173Cys)
7g.41965552G>TCA367317860GLI3c.3521C>A (p.Ser1174Tyr)
c.3347C>A (p.Ser1116Tyr)
n.3498C>A
c.3344C>A (p.Ser1115Tyr)
c.3518C>A (p.Ser1173Tyr)
7g.41965553A=CA1702660819GLI3c.3520T= (p.Ser1174=)
c.3346T= (p.Ser1116=)
n.3497T=
c.3343T= (p.Ser1115=)
c.3517T= (p.Ser1173=)
7g.41965553A>CCA367317862GLI3c.3520T>G (p.Ser1174Ala)
c.3346T>G (p.Ser1116Ala)
n.3497T>G
c.3343T>G (p.Ser1115Ala)
c.3517T>G (p.Ser1173Ala)
7g.41965553A>GCA4230343GLI3c.3520T>C (p.Ser1174Pro)
c.3346T>C (p.Ser1116Pro)
n.3497T>C
c.3343T>C (p.Ser1115Pro)
c.3517T>C (p.Ser1173Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965553A>TCA367317861GLI3c.3520T>A (p.Ser1174Thr)
c.3346T>A (p.Ser1116Thr)
n.3497T>A
c.3343T>A (p.Ser1115Thr)
c.3517T>A (p.Ser1173Thr)
7g.41965554G>ACA454661911GLI3c.3519C>T (p.Ser1173=)
c.3345C>T (p.Ser1115=)
n.3496C>T
c.3342C>T (p.Ser1114=)
c.3516C>T (p.Ser1172=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.41965554G>CCA454661912GLI3c.3519C>G (p.Ser1173=)
c.3345C>G (p.Ser1115=)
n.3496C>G
c.3342C>G (p.Ser1114=)
c.3516C>G (p.Ser1172=)
 dbSNP gnomAD v2 gnomAD v4
7g.41965554G=CA1702660820GLI3c.3519C= (p.Ser1173=)
c.3345C= (p.Ser1115=)
n.3496C=
c.3342C= (p.Ser1114=)
c.3516C= (p.Ser1172=)
7g.41965554G>TCA454661913GLI3c.3519C>A (p.Ser1173=)
c.3345C>A (p.Ser1115=)
n.3496C>A
c.3342C>A (p.Ser1114=)
c.3516C>A (p.Ser1172=)
7g.41965555G>ACA367317863GLI3c.3518C>T (p.Ser1173Phe)
c.3344C>T (p.Ser1115Phe)
n.3495C>T
c.3341C>T (p.Ser1114Phe)
c.3515C>T (p.Ser1172Phe)
7g.41965555G>CCA367317864GLI3c.3518C>G (p.Ser1173Cys)
c.3344C>G (p.Ser1115Cys)
n.3495C>G
c.3341C>G (p.Ser1114Cys)
c.3515C>G (p.Ser1172Cys)
7g.41965555G>TCA367317865GLI3c.3518C>A (p.Ser1173Tyr)
c.3344C>A (p.Ser1115Tyr)
n.3495C>A
c.3341C>A (p.Ser1114Tyr)
c.3515C>A (p.Ser1172Tyr)
7g.41965556A=CA1702660821GLI3c.3517T= (p.Ser1173=)
c.3343T= (p.Ser1115=)
n.3494T=
c.3340T= (p.Ser1114=)
c.3514T= (p.Ser1172=)
7g.41965556A>CCA367317866GLI3c.3517T>G (p.Ser1173Ala)
c.3343T>G (p.Ser1115Ala)
n.3494T>G
c.3340T>G (p.Ser1114Ala)
c.3514T>G (p.Ser1172Ala)
7g.41965556A>GCA367317867GLI3c.3517T>C (p.Ser1173Pro)
c.3343T>C (p.Ser1115Pro)
n.3494T>C
c.3340T>C (p.Ser1114Pro)
c.3514T>C (p.Ser1172Pro)
 dbSNP gnomAD v2 gnomAD v4
7g.41965556A>TCA367317868GLI3c.3517T>A (p.Ser1173Thr)
c.3343T>A (p.Ser1115Thr)
n.3494T>A
c.3340T>A (p.Ser1114Thr)
c.3514T>A (p.Ser1172Thr)
7g.41965557C>ACA454661914GLI3c.3516G>T (p.Leu1172=)
c.3342G>T (p.Leu1114=)
n.3493G>T
c.3339G>T (p.Leu1113=)
c.3513G>T (p.Leu1171=)
7g.41965557C>GCA454661915GLI3c.3516G>C (p.Leu1172=)
c.3342G>C (p.Leu1114=)
n.3493G>C
c.3339G>C (p.Leu1113=)
c.3513G>C (p.Leu1171=)
7g.41965557C>TCA454661916GLI3c.3516G>A (p.Leu1172=)
c.3342G>A (p.Leu1114=)
n.3493G>A
c.3339G>A (p.Leu1113=)
c.3513G>A (p.Leu1171=)
7g.41965558A>CCA367317869GLI3c.3515T>G (p.Leu1172Arg)
c.3341T>G (p.Leu1114Arg)
n.3492T>G
c.3338T>G (p.Leu1113Arg)
c.3512T>G (p.Leu1171Arg)
7g.41965558A>GCA367317871GLI3c.3515T>C (p.Leu1172Pro)
c.3341T>C (p.Leu1114Pro)
n.3492T>C
c.3338T>C (p.Leu1113Pro)
c.3512T>C (p.Leu1171Pro)
 gnomAD v4
7g.41965558A>TCA367317870GLI3c.3515T>A (p.Leu1172Gln)
c.3341T>A (p.Leu1114Gln)
n.3492T>A
c.3338T>A (p.Leu1113Gln)
c.3512T>A (p.Leu1171Gln)
 gnomAD v4
7g.41965559G>ACA4230344GLI3c.3514C>T (p.Leu1172=)
c.3340C>T (p.Leu1114=)
n.3491C>T
c.3337C>T (p.Leu1113=)
c.3511C>T (p.Leu1171=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965559G>CCA367317872GLI3c.3514C>G (p.Leu1172Val)
c.3340C>G (p.Leu1114Val)
n.3491C>G
c.3337C>G (p.Leu1113Val)
c.3511C>G (p.Leu1171Val)
 gnomAD v4
7g.41965559G=CA1702660822GLI3c.3514C= (p.Leu1172=)
c.3340C= (p.Leu1114=)
n.3491C=
c.3337C= (p.Leu1113=)
c.3511C= (p.Leu1171=)
7g.41965559G>TCA367317873GLI3c.3514C>A (p.Leu1172Met)
c.3340C>A (p.Leu1114Met)
n.3491C>A
c.3337C>A (p.Leu1113Met)
c.3511C>A (p.Leu1171Met)
7g.41965560G>ACA4230345GLI3c.3513C>T (p.Asp1171=)
c.3339C>T (p.Asp1113=)
n.3490C>T
c.3336C>T (p.Asp1112=)
c.3510C>T (p.Asp1170=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965560G>CCA367317874GLI3c.3513C>G (p.Asp1171Glu)
c.3339C>G (p.Asp1113Glu)
n.3490C>G
c.3336C>G (p.Asp1112Glu)
c.3510C>G (p.Asp1170Glu)
7g.41965560G=CA1702660823GLI3c.3513C= (p.Asp1171=)
c.3339C= (p.Asp1113=)
n.3490C=
c.3336C= (p.Asp1112=)
c.3510C= (p.Asp1170=)
7g.41965560G>TCA367317875GLI3c.3513C>A (p.Asp1171Glu)
c.3339C>A (p.Asp1113Glu)
n.3490C>A
c.3336C>A (p.Asp1112Glu)
c.3510C>A (p.Asp1170Glu)
 gnomAD v4
7g.41965561T>ACA367317876GLI3c.3512A>T (p.Asp1171Val)
c.3338A>T (p.Asp1113Val)
n.3489A>T
c.3335A>T (p.Asp1112Val)
c.3509A>T (p.Asp1170Val)
7g.41965561T>CCA367317877GLI3c.3512A>G (p.Asp1171Gly)
c.3338A>G (p.Asp1113Gly)
n.3489A>G
c.3335A>G (p.Asp1112Gly)
c.3509A>G (p.Asp1170Gly)
7g.41965561T>GCA367317878GLI3c.3512A>C (p.Asp1171Ala)
c.3338A>C (p.Asp1113Ala)
n.3489A>C
c.3335A>C (p.Asp1112Ala)
c.3509A>C (p.Asp1170Ala)
7g.41965562C>ACA367317879GLI3c.3511G>T (p.Asp1171Tyr)
c.3337G>T (p.Asp1113Tyr)
n.3488G>T
c.3334G>T (p.Asp1112Tyr)
c.3508G>T (p.Asp1170Tyr)
7g.41965562C>GCA367317880GLI3c.3511G>C (p.Asp1171His)
c.3337G>C (p.Asp1113His)
n.3488G>C
c.3334G>C (p.Asp1112His)
c.3508G>C (p.Asp1170His)
7g.41965562C>TCA367317881GLI3c.3511G>A (p.Asp1171Asn)
c.3337G>A (p.Asp1113Asn)
n.3488G>A
c.3334G>A (p.Asp1112Asn)
c.3508G>A (p.Asp1170Asn)
 gnomAD v4
7g.41965563G>ACA4230346GLI3c.3510C>T (p.Ala1170=)
c.3336C>T (p.Ala1112=)
n.3487C>T
c.3333C>T (p.Ala1111=)
c.3507C>T (p.Ala1169=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965563G>CCA454661917GLI3c.3510C>G (p.Ala1170=)
c.3336C>G (p.Ala1112=)
n.3487C>G
c.3333C>G (p.Ala1111=)
c.3507C>G (p.Ala1169=)
7g.41965563G=CA1702660824GLI3c.3510C= (p.Ala1170=)
c.3336C= (p.Ala1112=)
n.3487C=
c.3333C= (p.Ala1111=)
c.3507C= (p.Ala1169=)
7g.41965563G>TCA4230347GLI3c.3510C>A (p.Ala1170=)
c.3336C>A (p.Ala1112=)
n.3487C>A
c.3333C>A (p.Ala1111=)
c.3507C>A (p.Ala1169=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965564G>ACA367317882GLI3c.3509C>T (p.Ala1170Val)
c.3335C>T (p.Ala1112Val)
n.3486C>T
c.3332C>T (p.Ala1111Val)
c.3506C>T (p.Ala1169Val)
 gnomAD v4
7g.41965564G>CCA4230348GLI3c.3509C>G (p.Ala1170Gly)
c.3335C>G (p.Ala1112Gly)
n.3486C>G
c.3332C>G (p.Ala1111Gly)
c.3506C>G (p.Ala1169Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965564G=CA1702660825GLI3c.3509C= (p.Ala1170=)
c.3335C= (p.Ala1112=)
n.3486C=
c.3332C= (p.Ala1111=)
c.3506C= (p.Ala1169=)
7g.41965564G>TCA367317883GLI3c.3509C>A (p.Ala1170Asp)
c.3335C>A (p.Ala1112Asp)
n.3486C>A
c.3332C>A (p.Ala1111Asp)
c.3506C>A (p.Ala1169Asp)
 gnomAD v4
7g.41965565C>ACA4230350GLI3c.3508G>T (p.Ala1170Ser)
c.3334G>T (p.Ala1112Ser)
n.3485G>T
c.3331G>T (p.Ala1111Ser)
c.3505G>T (p.Ala1169Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965565C=CA1702660826GLI3c.3508G= (p.Ala1170=)
c.3334G= (p.Ala1112=)
n.3485G=
c.3331G= (p.Ala1111=)
c.3505G= (p.Ala1169=)
7g.41965565C>GCA367317884GLI3c.3508G>C (p.Ala1170Pro)
c.3334G>C (p.Ala1112Pro)
n.3485G>C
c.3331G>C (p.Ala1111Pro)
c.3505G>C (p.Ala1169Pro)
7g.41965565C>TCA4230349GLI3c.3508G>A (p.Ala1170Thr)
c.3334G>A (p.Ala1112Thr)
n.3485G>A
c.3331G>A (p.Ala1111Thr)
c.3505G>A (p.Ala1169Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965566G>ACA4230351GLI3c.3507C>T (p.Ser1169=)
c.3333C>T (p.Ser1111=)
n.3484C>T
c.3330C>T (p.Ser1110=)
c.3504C>T (p.Ser1168=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.41965566G>CCA367317886GLI3c.3507C>G (p.Ser1169Arg)
c.3333C>G (p.Ser1111Arg)
n.3484C>G
c.3330C>G (p.Ser1110Arg)
c.3504C>G (p.Ser1168Arg)
7g.41965566G=CA1702660827GLI3c.3507C= (p.Ser1169=)
c.3333C= (p.Ser1111=)
n.3484C=
c.3330C= (p.Ser1110=)
c.3504C= (p.Ser1168=)
7g.41965566G>TCA367317885GLI3c.3507C>A (p.Ser1169Arg)
c.3333C>A (p.Ser1111Arg)
n.3484C>A
c.3330C>A (p.Ser1110Arg)
c.3504C>A (p.Ser1168Arg)
 gnomAD v4
7g.41965567C>ACA367317887GLI3c.3506G>T (p.Ser1169Ile)
c.3332G>T (p.Ser1111Ile)
n.3483G>T
c.3329G>T (p.Ser1110Ile)
c.3503G>T (p.Ser1168Ile)
7g.41965567C>GCA367317888GLI3c.3506G>C (p.Ser1169Thr)
c.3332G>C (p.Ser1111Thr)
n.3483G>C
c.3329G>C (p.Ser1110Thr)
c.3503G>C (p.Ser1168Thr)
7g.41965567C>TCA367317889GLI3c.3506G>A (p.Ser1169Asn)
c.3332G>A (p.Ser1111Asn)
n.3483G>A
c.3329G>A (p.Ser1110Asn)
c.3503G>A (p.Ser1168Asn)
7g.41965568T>ACA367317890GLI3c.3505A>T (p.Ser1169Cys)
c.3331A>T (p.Ser1111Cys)
n.3482A>T
c.3328A>T (p.Ser1110Cys)
c.3502A>T (p.Ser1168Cys)
7g.41965568T>CCA367317891GLI3c.3505A>G (p.Ser1169Gly)
c.3331A>G (p.Ser1111Gly)
n.3482A>G
c.3328A>G (p.Ser1110Gly)
c.3502A>G (p.Ser1168Gly)
 gnomAD v4
7g.41965568T>GCA367317892GLI3c.3505A>C (p.Ser1169Arg)
c.3331A>C (p.Ser1111Arg)
n.3482A>C
c.3328A>C (p.Ser1110Arg)
c.3502A>C (p.Ser1168Arg)
7g.41965569T>ACA454661920GLI3c.3504A>T (p.Gly1168=)
c.3330A>T (p.Gly1110=)
n.3481A>T
c.3327A>T (p.Gly1109=)
c.3501A>T (p.Gly1167=)
7g.41965569T>CCA454661919GLI3c.3504A>G (p.Gly1168=)
c.3330A>G (p.Gly1110=)
n.3481A>G
c.3327A>G (p.Gly1109=)
c.3501A>G (p.Gly1167=)
7g.41965569T>GCA454661918GLI3c.3504A>C (p.Gly1168=)
c.3330A>C (p.Gly1110=)
n.3481A>C
c.3327A>C (p.Gly1109=)
c.3501A>C (p.Gly1167=)
7g.41965570C>ACA367317893GLI3c.3503G>T (p.Gly1168Val)
c.3329G>T (p.Gly1110Val)
n.3480G>T
c.3326G>T (p.Gly1109Val)
c.3500G>T (p.Gly1167Val)
7g.41965570C>GCA367317895GLI3c.3503G>C (p.Gly1168Ala)
c.3329G>C (p.Gly1110Ala)
n.3480G>C
c.3326G>C (p.Gly1109Ala)
c.3500G>C (p.Gly1167Ala)
7g.41965570C>TCA367317894GLI3c.3503G>A (p.Gly1168Glu)
c.3329G>A (p.Gly1110Glu)
n.3480G>A
c.3326G>A (p.Gly1109Glu)
c.3500G>A (p.Gly1167Glu)
7g.41965571delCA2695207631GLI3c.3503del (p.Gly1168GlufsTer?)
c.3329del (p.Gly1110GlufsTer?)
n.3480del
c.3326del (p.Gly1109GlufsTer?)
c.3500del (p.Gly1167GlufsTer?)
7g.41965571C>ACA367317896GLI3c.3502G>T (p.Gly1168Ter)
c.3328G>T (p.Gly1110Ter)
n.3479G>T
c.3325G>T (p.Gly1109Ter)
c.3499G>T (p.Gly1167Ter)
7g.41965571C=CA1702660828GLI3c.3502G= (p.Gly1168=)
c.3328G= (p.Gly1110=)
n.3479G=
c.3325G= (p.Gly1109=)
c.3499G= (p.Gly1167=)
7g.41965571C>GCA367317897GLI3c.3502G>C (p.Gly1168Arg)
c.3328G>C (p.Gly1110Arg)
n.3479G>C
c.3325G>C (p.Gly1109Arg)
c.3499G>C (p.Gly1167Arg)
 gnomAD v4
7g.41965571C>TCA367317898GLI3c.3502G>A (p.Gly1168Arg)
c.3328G>A (p.Gly1110Arg)
n.3479G>A
c.3325G>A (p.Gly1109Arg)
c.3499G>A (p.Gly1167Arg)
 gnomAD v4 COSMIC
7g.41965572G>ACA156903891GLI3c.3501C>T (p.Ser1167=)
c.3327C>T (p.Ser1109=)
n.3478C>T
c.3324C>T (p.Ser1108=)
c.3498C>T (p.Ser1166=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41965572G>CCA454661921GLI3c.3501C>G (p.Ser1167=)
c.3327C>G (p.Ser1109=)
n.3478C>G
c.3324C>G (p.Ser1108=)
c.3498C>G (p.Ser1166=)
7g.41965572G=CA1702660829GLI3c.3501C= (p.Ser1167=)
c.3327C= (p.Ser1109=)
n.3478C=
c.3324C= (p.Ser1108=)
c.3498C= (p.Ser1166=)
7g.41965572G>TCA454661922GLI3c.3501C>A (p.Ser1167=)
c.3327C>A (p.Ser1109=)
n.3478C>A
c.3324C>A (p.Ser1108=)
c.3498C>A (p.Ser1166=)
7g.41965573_41965575dupCA573857082GLI3c.3499_3501dup (p.Ser1167_Gly1168insSer)
c.3325_3327dup (p.Ser1109_Gly1110insSer)
n.3476_3478dup
c.3322_3324dup (p.Ser1108_Gly1109insSer)
c.3496_3498dup (p.Ser1166_Gly1167insSer)
 dbSNP gnomAD v2 gnomAD v4
7g.41965573G>ACA367317899GLI3c.3500C>T (p.Ser1167Phe)
c.3326C>T (p.Ser1109Phe)
n.3477C>T
c.3323C>T (p.Ser1108Phe)
c.3497C>T (p.Ser1166Phe)
7g.41965573G>CCA367317900GLI3c.3500C>G (p.Ser1167Cys)
c.3326C>G (p.Ser1109Cys)
n.3477C>G
c.3323C>G (p.Ser1108Cys)
c.3497C>G (p.Ser1166Cys)
7g.41965573G>TCA367317901GLI3c.3500C>A (p.Ser1167Tyr)
c.3326C>A (p.Ser1109Tyr)
n.3477C>A
c.3323C>A (p.Ser1108Tyr)
c.3497C>A (p.Ser1166Tyr)
7g.41965574A>CCA367317902GLI3c.3499T>G (p.Ser1167Ala)
c.3325T>G (p.Ser1109Ala)
n.3476T>G
c.3322T>G (p.Ser1108Ala)
c.3496T>G (p.Ser1166Ala)
7g.41965574A>GCA367317903GLI3c.3499T>C (p.Ser1167Pro)
c.3325T>C (p.Ser1109Pro)
n.3476T>C
c.3322T>C (p.Ser1108Pro)
c.3496T>C (p.Ser1166Pro)
7g.41965574A>TCA367317904GLI3c.3499T>A (p.Ser1167Thr)
c.3325T>A (p.Ser1109Thr)
n.3476T>A
c.3322T>A (p.Ser1108Thr)
c.3496T>A (p.Ser1166Thr)
7g.41965575G>ACA454661923GLI3c.3498C>T (p.Ser1166=)
c.3324C>T (p.Ser1108=)
n.3475C>T
c.3321C>T (p.Ser1107=)
c.3495C>T (p.Ser1165=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41965575G>CCA367317905GLI3c.3498C>G (p.Ser1166Arg)
c.3324C>G (p.Ser1108Arg)
n.3475C>G
c.3321C>G (p.Ser1107Arg)
c.3495C>G (p.Ser1165Arg)
 gnomAD v4
7g.41965575G=CA1702660830GLI3c.3498C= (p.Ser1166=)
c.3324C= (p.Ser1108=)
n.3475C=
c.3321C= (p.Ser1107=)
c.3495C= (p.Ser1165=)
7g.41965575G>TCA367317906GLI3c.3498C>A (p.Ser1166Arg)
c.3324C>A (p.Ser1108Arg)
n.3475C>A
c.3321C>A (p.Ser1107Arg)
c.3495C>A (p.Ser1165Arg)
7g.41965576C>ACA367317908GLI3c.3497G>T (p.Ser1166Ile)
c.3323G>T (p.Ser1108Ile)
n.3474G>T
c.3320G>T (p.Ser1107Ile)
c.3494G>T (p.Ser1165Ile)
7g.41965576C>GCA367317909GLI3c.3497G>C (p.Ser1166Thr)
c.3323G>C (p.Ser1108Thr)
n.3474G>C
c.3320G>C (p.Ser1107Thr)
c.3494G>C (p.Ser1165Thr)
7g.41965576C>TCA367317907GLI3c.3497G>A (p.Ser1166Asn)
c.3323G>A (p.Ser1108Asn)
n.3474G>A
c.3320G>A (p.Ser1107Asn)
c.3494G>A (p.Ser1165Asn)
7g.41965577delCA2695207632GLI3c.3496del (p.Ser1166AlafsTer?)
c.3322del (p.Ser1108AlafsTer?)
n.3473del
c.3319del (p.Ser1107AlafsTer?)
c.3493del (p.Ser1165AlafsTer?)
7g.41965577T>ACA367317911GLI3c.3496A>T (p.Ser1166Cys)
c.3322A>T (p.Ser1108Cys)
n.3473A>T
c.3319A>T (p.Ser1107Cys)
c.3493A>T (p.Ser1165Cys)
7g.41965577T>CCA367317910GLI3c.3496A>G (p.Ser1166Gly)
c.3322A>G (p.Ser1108Gly)
n.3473A>G
c.3319A>G (p.Ser1107Gly)
c.3493A>G (p.Ser1165Gly)
7g.41965577T>GCA367317912GLI3c.3496A>C (p.Ser1166Arg)
c.3322A>C (p.Ser1108Arg)
n.3473A>C
c.3319A>C (p.Ser1107Arg)
c.3493A>C (p.Ser1165Arg)
7g.41965578G>ACA454661924GLI3c.3495C>T (p.Val1165=)
c.3321C>T (p.Val1107=)
n.3472C>T
c.3318C>T (p.Val1106=)
c.3492C>T (p.Val1164=)
7g.41965578G>CCA4230352GLI3c.3495C>G (p.Val1165=)
c.3321C>G (p.Val1107=)
n.3472C>G
c.3318C>G (p.Val1106=)
c.3492C>G (p.Val1164=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965578G=CA1702660831GLI3c.3495C= (p.Val1165=)
c.3321C= (p.Val1107=)
n.3472C=
c.3318C= (p.Val1106=)
c.3492C= (p.Val1164=)
7g.41965578G>TCA4230353GLI3c.3495C>A (p.Val1165=)
c.3321C>A (p.Val1107=)
n.3472C>A
c.3318C>A (p.Val1106=)
c.3492C>A (p.Val1164=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965579A>CCA367317913GLI3c.3494T>G (p.Val1165Gly)
c.3320T>G (p.Val1107Gly)
n.3471T>G
c.3317T>G (p.Val1106Gly)
c.3491T>G (p.Val1164Gly)
7g.41965579A>GCA367317914GLI3c.3494T>C (p.Val1165Ala)
c.3320T>C (p.Val1107Ala)
n.3471T>C
c.3317T>C (p.Val1106Ala)
c.3491T>C (p.Val1164Ala)
 gnomAD v4
7g.41965579A>TCA367317915GLI3c.3494T>A (p.Val1165Asp)
c.3320T>A (p.Val1107Asp)
n.3471T>A
c.3317T>A (p.Val1106Asp)
c.3491T>A (p.Val1164Asp)
7g.41965580C>ACA367317916GLI3c.3493G>T (p.Val1165Phe)
c.3319G>T (p.Val1107Phe)
n.3470G>T
c.3316G>T (p.Val1106Phe)
c.3490G>T (p.Val1164Phe)
 gnomAD v4
7g.41965580C>GCA367317917GLI3c.3493G>C (p.Val1165Leu)
c.3319G>C (p.Val1107Leu)
n.3470G>C
c.3316G>C (p.Val1106Leu)
c.3490G>C (p.Val1164Leu)
7g.41965580C>TCA367317918GLI3c.3493G>A (p.Val1165Ile)
c.3319G>A (p.Val1107Ile)
n.3470G>A
c.3316G>A (p.Val1106Ile)
c.3490G>A (p.Val1164Ile)
7g.41965581T>ACA367317919GLI3c.3492A>T (p.Glu1164Asp)
c.3318A>T (p.Glu1106Asp)
n.3469A>T
c.3315A>T (p.Glu1105Asp)
c.3489A>T (p.Glu1163Asp)
7g.41965581T>CCA454661925GLI3c.3492A>G (p.Glu1164=)
c.3318A>G (p.Glu1106=)
n.3469A>G
c.3315A>G (p.Glu1105=)
c.3489A>G (p.Glu1163=)
7g.41965581T>GCA367317920GLI3c.3492A>C (p.Glu1164Asp)
c.3318A>C (p.Glu1106Asp)
n.3469A>C
c.3315A>C (p.Glu1105Asp)
c.3489A>C (p.Glu1163Asp)
7g.41965582T>ACA367317921GLI3c.3491A>T (p.Glu1164Val)
c.3317A>T (p.Glu1106Val)
n.3468A>T
c.3314A>T (p.Glu1105Val)
c.3488A>T (p.Glu1163Val)
7g.41965582T>CCA367317922GLI3c.3491A>G (p.Glu1164Gly)
c.3317A>G (p.Glu1106Gly)
n.3468A>G
c.3314A>G (p.Glu1105Gly)
c.3488A>G (p.Glu1163Gly)
7g.41965582T>GCA367317923GLI3c.3491A>C (p.Glu1164Ala)
c.3317A>C (p.Glu1106Ala)
n.3468A>C
c.3314A>C (p.Glu1105Ala)
c.3488A>C (p.Glu1163Ala)
7g.41965582_41965583delinsTCCA1702660832GLI3c.3490_3491delinsGA (p.Glu1164=)
c.3316_3317delinsGA (p.Glu1106=)
n.3467_3468delinsGA
c.3313_3314delinsGA (p.Glu1105=)
c.3487_3488delinsGA (p.Glu1163=)
7g.41965583delCA913189378GLI3c.3490del (p.Glu1164LysfsTer?)
c.3316del (p.Glu1106LysfsTer?)
n.3467del
c.3313del (p.Glu1105LysfsTer?)
c.3487del (p.Glu1163LysfsTer?)
 ClinVar dbSNP
7g.41965583C>ACA367317926GLI3c.3490G>T (p.Glu1164Ter)
c.3316G>T (p.Glu1106Ter)
n.3467G>T
c.3313G>T (p.Glu1105Ter)
c.3487G>T (p.Glu1163Ter)
 ClinVar
7g.41965583C=CA1702660833GLI3c.3490G= (p.Glu1164=)
c.3316G= (p.Glu1106=)
n.3467G=
c.3313G= (p.Glu1105=)
c.3487G= (p.Glu1163=)
7g.41965583C>GCA367317925GLI3c.3490G>C (p.Glu1164Gln)
c.3316G>C (p.Glu1106Gln)
n.3467G>C
c.3313G>C (p.Glu1105Gln)
c.3487G>C (p.Glu1163Gln)
 dbSNP gnomAD v3 gnomAD v4
7g.41965583C>TCA367317924GLI3c.3490G>A (p.Glu1164Lys)
c.3316G>A (p.Glu1106Lys)
n.3467G>A
c.3313G>A (p.Glu1105Lys)
c.3487G>A (p.Glu1163Lys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.41965584G>ACA4230354GLI3c.3489C>T (p.Asn1163=)
c.3315C>T (p.Asn1105=)
n.3466C>T
c.3312C>T (p.Asn1104=)
c.3486C>T (p.Asn1162=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41965584G>CCA367317927GLI3c.3489C>G (p.Asn1163Lys)
c.3315C>G (p.Asn1105Lys)
n.3466C>G
c.3312C>G (p.Asn1104Lys)
c.3486C>G (p.Asn1162Lys)
 dbSNP
7g.41965584G=CA1702660834GLI3c.3489C= (p.Asn1163=)
c.3315C= (p.Asn1105=)
n.3466C=
c.3312C= (p.Asn1104=)
c.3486C= (p.Asn1162=)
7g.41965584G>TCA367317928GLI3c.3489C>A (p.Asn1163Lys)
c.3315C>A (p.Asn1105Lys)
n.3466C>A
c.3312C>A (p.Asn1104Lys)
c.3486C>A (p.Asn1162Lys)
7g.41965585T>ACA367317929GLI3c.3488A>T (p.Asn1163Ile)
c.3314A>T (p.Asn1105Ile)
n.3465A>T
c.3311A>T (p.Asn1104Ile)
c.3485A>T (p.Asn1162Ile)
7g.41965585T>CCA367317930GLI3c.3488A>G (p.Asn1163Ser)
c.3314A>G (p.Asn1105Ser)
n.3465A>G
c.3311A>G (p.Asn1104Ser)
c.3485A>G (p.Asn1162Ser)
7g.41965585T>GCA367317931GLI3c.3488A>C (p.Asn1163Thr)
c.3314A>C (p.Asn1105Thr)
n.3465A>C
c.3311A>C (p.Asn1104Thr)
c.3485A>C (p.Asn1162Thr)
7g.41965586T>ACA367317932GLI3c.3487A>T (p.Asn1163Tyr)
c.3313A>T (p.Asn1105Tyr)
n.3464A>T
c.3310A>T (p.Asn1104Tyr)
c.3484A>T (p.Asn1162Tyr)
7g.41965586T>CCA367317933GLI3c.3487A>G (p.Asn1163Asp)
c.3313A>G (p.Asn1105Asp)
n.3464A>G
c.3310A>G (p.Asn1104Asp)
c.3484A>G (p.Asn1162Asp)
7g.41965586T>GCA367317934GLI3c.3487A>C (p.Asn1163His)
c.3313A>C (p.Asn1105His)
n.3464A>C
c.3310A>C (p.Asn1104His)
c.3484A>C (p.Asn1162His)
7g.41965587C>ACA367317935GLI3c.3486G>T (p.Trp1162Cys)
c.3312G>T (p.Trp1104Cys)
n.3463G>T
c.3309G>T (p.Trp1103Cys)
c.3483G>T (p.Trp1161Cys)
 gnomAD v4
7g.41965587C>GCA367317936GLI3c.3486G>C (p.Trp1162Cys)
c.3312G>C (p.Trp1104Cys)
n.3463G>C
c.3309G>C (p.Trp1103Cys)
c.3483G>C (p.Trp1161Cys)
7g.41965587C>TCA367317937GLI3c.3486G>A (p.Trp1162Ter)
c.3312G>A (p.Trp1104Ter)
n.3463G>A
c.3309G>A (p.Trp1103Ter)
c.3483G>A (p.Trp1161Ter)
 ClinVar dbSNP
7g.41965588C>ACA367317940GLI3c.3485G>T (p.Trp1162Leu)
c.3311G>T (p.Trp1104Leu)
n.3462G>T
c.3308G>T (p.Trp1103Leu)
c.3482G>T (p.Trp1161Leu)
7g.41965588C>GCA367317939GLI3c.3485G>C (p.Trp1162Ser)
c.3311G>C (p.Trp1104Ser)
n.3462G>C
c.3308G>C (p.Trp1103Ser)
c.3482G>C (p.Trp1161Ser)
7g.41965588C>TCA367317938GLI3c.3485G>A (p.Trp1162Ter)
c.3311G>A (p.Trp1104Ter)
n.3462G>A
c.3308G>A (p.Trp1103Ter)
c.3482G>A (p.Trp1161Ter)
7g.41965589A=CA1702660835GLI3c.3484T= (p.Trp1162=)
c.3310T= (p.Trp1104=)
n.3461T=
c.3307T= (p.Trp1103=)
c.3481T= (p.Trp1161=)
7g.41965589A>CCA367317941GLI3c.3484T>G (p.Trp1162Gly)
c.3310T>G (p.Trp1104Gly)
n.3461T>G
c.3307T>G (p.Trp1103Gly)
c.3481T>G (p.Trp1161Gly)
7g.41965589A>GCA367317942GLI3c.3484T>C (p.Trp1162Arg)
c.3310T>C (p.Trp1104Arg)
n.3461T>C
c.3307T>C (p.Trp1103Arg)
c.3481T>C (p.Trp1161Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.41965589A>TCA367317943GLI3c.3484T>A (p.Trp1162Arg)
c.3310T>A (p.Trp1104Arg)
n.3461T>A
c.3307T>A (p.Trp1103Arg)
c.3481T>A (p.Trp1161Arg)
7g.41965589_41965594delCA2682510064GLI3c.3479_3484del (p.Ile1160_Trp1162delinsArg)
c.3305_3310del (p.Ile1102_Trp1104delinsArg)
n.3456_3461del
c.3302_3307del (p.Ile1101_Trp1103delinsArg)
c.3476_3481del (p.Ile1159_Trp1161delinsArg)
 gnomAD v4
7g.41965590C>ACA367317944GLI3c.3483G>T (p.Gln1161His)
c.3309G>T (p.Gln1103His)
n.3460G>T
c.3306G>T (p.Gln1102His)
c.3480G>T (p.Gln1160His)
7g.41965590C=CA1702660836GLI3c.3483G= (p.Gln1161=)
c.3309G= (p.Gln1103=)
n.3460G=
c.3306G= (p.Gln1102=)
c.3480G= (p.Gln1160=)
7g.41965590C>GCA367317945GLI3c.3483G>C (p.Gln1161His)
c.3309G>C (p.Gln1103His)
n.3460G>C
c.3306G>C (p.Gln1102His)
c.3480G>C (p.Gln1160His)
 gnomAD v4
7g.41965590C>TCA454661926GLI3c.3483G>A (p.Gln1161=)
c.3309G>A (p.Gln1103=)
n.3460G>A
c.3306G>A (p.Gln1102=)
c.3480G>A (p.Gln1160=)
 dbSNP
7g.41965591T>ACA367317946GLI3c.3482A>T (p.Gln1161Leu)
c.3308A>T (p.Gln1103Leu)
n.3459A>T
c.3305A>T (p.Gln1102Leu)
c.3479A>T (p.Gln1160Leu)
7g.41965591T>CCA367317947GLI3c.3482A>G (p.Gln1161Arg)
c.3308A>G (p.Gln1103Arg)
n.3459A>G
c.3305A>G (p.Gln1102Arg)
c.3479A>G (p.Gln1160Arg)
7g.41965591T>GCA367317948GLI3c.3482A>C (p.Gln1161Pro)
c.3308A>C (p.Gln1103Pro)
n.3459A>C
c.3305A>C (p.Gln1102Pro)
c.3479A>C (p.Gln1160Pro)
7g.41965592G>ACA342945GLI3c.3481C>T (p.Gln1161Ter)
c.3307C>T (p.Gln1103Ter)
n.3458C>T
c.3304C>T (p.Gln1102Ter)
c.3478C>T (p.Gln1160Ter)
 ClinVar dbSNP
7g.41965592G>CCA367317949GLI3c.3481C>G (p.Gln1161Glu)
c.3307C>G (p.Gln1103Glu)
n.3458C>G
c.3304C>G (p.Gln1102Glu)
c.3478C>G (p.Gln1160Glu)
7g.41965592G=CA1702660837GLI3c.3481C= (p.Gln1161=)
c.3307C= (p.Gln1103=)
n.3458C=
c.3304C= (p.Gln1102=)
c.3478C= (p.Gln1160=)
7g.41965592G>TCA367317950GLI3c.3481C>A (p.Gln1161Lys)
c.3307C>A (p.Gln1103Lys)
n.3458C>A
c.3304C>A (p.Gln1102Lys)
c.3478C>A (p.Gln1160Lys)
7g.41965593A>CCA367317951GLI3c.3480T>G (p.Ile1160Met)
c.3306T>G (p.Ile1102Met)
n.3457T>G
c.3303T>G (p.Ile1101Met)
c.3477T>G (p.Ile1159Met)
7g.41965593A>GCA454661927GLI3c.3480T>C (p.Ile1160=)
c.3306T>C (p.Ile1102=)
n.3457T>C
c.3303T>C (p.Ile1101=)
c.3477T>C (p.Ile1159=)
7g.41965593A>TCA454661928GLI3c.3480T>A (p.Ile1160=)
c.3306T>A (p.Ile1102=)
n.3457T>A
c.3303T>A (p.Ile1101=)
c.3477T>A (p.Ile1159=)
7g.41965594A>CCA367317954GLI3c.3479T>G (p.Ile1160Ser)
c.3305T>G (p.Ile1102Ser)
n.3456T>G
c.3302T>G (p.Ile1101Ser)
c.3476T>G (p.Ile1159Ser)
7g.41965594A>GCA367317953GLI3c.3479T>C (p.Ile1160Thr)
c.3305T>C (p.Ile1102Thr)
n.3456T>C
c.3302T>C (p.Ile1101Thr)
c.3476T>C (p.Ile1159Thr)
7g.41965594A>TCA367317952GLI3c.3479T>A (p.Ile1160Asn)
c.3305T>A (p.Ile1102Asn)
n.3456T>A
c.3302T>A (p.Ile1101Asn)
c.3476T>A (p.Ile1159Asn)
7g.41965595T>ACA367317955GLI3c.3478A>T (p.Ile1160Phe)
c.3304A>T (p.Ile1102Phe)
n.3455A>T
c.3301A>T (p.Ile1101Phe)
c.3475A>T (p.Ile1159Phe)
7g.41965595T>CCA367317956GLI3c.3478A>G (p.Ile1160Val)
c.3304A>G (p.Ile1102Val)
n.3455A>G
c.3301A>G (p.Ile1101Val)
c.3475A>G (p.Ile1159Val)
 ClinVar gnomAD v4
7g.41965595T>GCA367317957GLI3c.3478A>C (p.Ile1160Leu)
c.3304A>C (p.Ile1102Leu)
n.3455A>C
c.3301A>C (p.Ile1101Leu)
c.3475A>C (p.Ile1159Leu)
7g.41965596G>ACA4230355GLI3c.3477C>T (p.Pro1159=)
c.3303C>T (p.Pro1101=)
n.3454C>T
c.3300C>T (p.Pro1100=)
c.3474C>T (p.Pro1158=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965596G>CCA454661929GLI3c.3477C>G (p.Pro1159=)
c.3303C>G (p.Pro1101=)
n.3454C>G
c.3300C>G (p.Pro1100=)
c.3474C>G (p.Pro1158=)
7g.41965596G=CA1702660838GLI3c.3477C= (p.Pro1159=)
c.3303C= (p.Pro1101=)
n.3454C=
c.3300C= (p.Pro1100=)
c.3474C= (p.Pro1158=)
7g.41965596G>TCA454661930GLI3c.3477C>A (p.Pro1159=)
c.3303C>A (p.Pro1101=)
n.3454C>A
c.3300C>A (p.Pro1100=)
c.3474C>A (p.Pro1158=)
 gnomAD v4
7g.41965597G>ACA367317958GLI3c.3476C>T (p.Pro1159Leu)
c.3302C>T (p.Pro1101Leu)
n.3453C>T
c.3299C>T (p.Pro1100Leu)
c.3473C>T (p.Pro1158Leu)
7g.41965597G>CCA367317959GLI3c.3476C>G (p.Pro1159Arg)
c.3302C>G (p.Pro1101Arg)
n.3453C>G
c.3299C>G (p.Pro1100Arg)
c.3473C>G (p.Pro1158Arg)
 gnomAD v4
7g.41965597G>TCA367317960GLI3c.3476C>A (p.Pro1159His)
c.3302C>A (p.Pro1101His)
n.3453C>A
c.3299C>A (p.Pro1100His)
c.3473C>A (p.Pro1158His)
7g.41965598G>ACA367317961GLI3c.3475C>T (p.Pro1159Ser)
c.3301C>T (p.Pro1101Ser)
n.3452C>T
c.3298C>T (p.Pro1100Ser)
c.3472C>T (p.Pro1158Ser)
7g.41965598G>CCA367317962GLI3c.3475C>G (p.Pro1159Ala)
c.3301C>G (p.Pro1101Ala)
n.3452C>G
c.3298C>G (p.Pro1100Ala)
c.3472C>G (p.Pro1158Ala)
 COSMIC
7g.41965598G>TCA367317963GLI3c.3475C>A (p.Pro1159Thr)
c.3301C>A (p.Pro1101Thr)
n.3452C>A
c.3298C>A (p.Pro1100Thr)
c.3472C>A (p.Pro1158Thr)
7g.41965599delCA2695207633GLI3c.3474del (p.Ile1160PhefsTer?)
c.3300del (p.Ile1102PhefsTer?)
n.3451del
c.3297del (p.Ile1101PhefsTer?)
c.3471del (p.Ile1159PhefsTer?)
7g.41965599C>ACA454661931GLI3c.3474G>T (p.Leu1158=)
c.3300G>T (p.Leu1100=)
n.3451G>T
c.3297G>T (p.Leu1099=)
c.3471G>T (p.Leu1157=)
 gnomAD v4
7g.41965599C>GCA454661932GLI3c.3474G>C (p.Leu1158=)
c.3300G>C (p.Leu1100=)
n.3451G>C
c.3297G>C (p.Leu1099=)
c.3471G>C (p.Leu1157=)
7g.41965599C>TCA454661933GLI3c.3474G>A (p.Leu1158=)
c.3300G>A (p.Leu1100=)
n.3451G>A
c.3297G>A (p.Leu1099=)
c.3471G>A (p.Leu1157=)
 gnomAD v4
7g.41965600A=CA1702660839GLI3c.3473T= (p.Leu1158=)
c.3299T= (p.Leu1100=)
n.3450T=
c.3296T= (p.Leu1099=)
c.3470T= (p.Leu1157=)
7g.41965600A>CCA367317964GLI3c.3473T>G (p.Leu1158Arg)
c.3299T>G (p.Leu1100Arg)
n.3450T>G
c.3296T>G (p.Leu1099Arg)
c.3470T>G (p.Leu1157Arg)
7g.41965600A>GCA4230356GLI3c.3473T>C (p.Leu1158Pro)
c.3299T>C (p.Leu1100Pro)
n.3450T>C
c.3296T>C (p.Leu1099Pro)
c.3470T>C (p.Leu1157Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41965600A>TCA367317965GLI3c.3473T>A (p.Leu1158Gln)
c.3299T>A (p.Leu1100Gln)
n.3450T>A
c.3296T>A (p.Leu1099Gln)
c.3470T>A (p.Leu1157Gln)

Number of alleles fetched