Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.41965492C>A | CA367317736 | GLI3 | c.3581G>T (p.Cys1194Phe) c.3407G>T (p.Cys1136Phe) n.3558G>T c.3404G>T (p.Cys1135Phe) c.3578G>T (p.Cys1193Phe) | |
7 | g.41965492C>G | CA367317737 | GLI3 | c.3581G>C (p.Cys1194Ser) c.3407G>C (p.Cys1136Ser) n.3558G>C c.3404G>C (p.Cys1135Ser) c.3578G>C (p.Cys1193Ser) | COSMIC |
7 | g.41965492C>T | CA367317738 | GLI3 | c.3581G>A (p.Cys1194Tyr) c.3407G>A (p.Cys1136Tyr) n.3558G>A c.3404G>A (p.Cys1135Tyr) c.3578G>A (p.Cys1193Tyr) | |
7 | g.41965492_41965495delinsCAGA | CA1702660784 | GLI3 | c.3578_3581delinsTCTG (p.Phe1193=) c.3404_3407delinsTCTG (p.Phe1135=) n.3555_3558delinsTCTG c.3401_3404delinsTCTG (p.Phe1134=) c.3575_3578delinsTCTG (p.Phe1192=) | |
7 | g.41965493A= | CA1702660785 | GLI3 | c.3580T= (p.Cys1194=) c.3406T= (p.Cys1136=) n.3557T= c.3403T= (p.Cys1135=) c.3577T= (p.Cys1193=) | |
7 | g.41965493A>C | CA367317739 | GLI3 | c.3580T>G (p.Cys1194Gly) c.3406T>G (p.Cys1136Gly) n.3557T>G c.3403T>G (p.Cys1135Gly) c.3577T>G (p.Cys1193Gly) | |
7 | g.41965493A>G | CA367317740 | GLI3 | c.3580T>C (p.Cys1194Arg) c.3406T>C (p.Cys1136Arg) n.3557T>C c.3403T>C (p.Cys1135Arg) c.3577T>C (p.Cys1193Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41965493A>T | CA367317741 | GLI3 | c.3580T>A (p.Cys1194Ser) c.3406T>A (p.Cys1136Ser) n.3557T>A c.3403T>A (p.Cys1135Ser) c.3577T>A (p.Cys1193Ser) | gnomAD v4 |
7 | g.41965494_41965496del | CA156903738 | GLI3 | c.3578_3580del (p.Phe1193del) c.3404_3406del (p.Phe1135del) n.3555_3557del c.3401_3403del (p.Phe1134del) c.3575_3577del (p.Phe1192del) | dbSNP |
7 | g.41965494G>A | CA454662745 | GLI3 | c.3579C>T (p.Phe1193=) c.3405C>T (p.Phe1135=) n.3556C>T c.3402C>T (p.Phe1134=) c.3576C>T (p.Phe1192=) | ClinVar dbSNP gnomAD v4 |
7 | g.41965494G>C | CA367317743 | GLI3 | c.3579C>G (p.Phe1193Leu) c.3405C>G (p.Phe1135Leu) n.3556C>G c.3402C>G (p.Phe1134Leu) c.3576C>G (p.Phe1192Leu) | |
7 | g.41965494G= | CA1702660786 | GLI3 | c.3579C= (p.Phe1193=) c.3405C= (p.Phe1135=) n.3556C= c.3402C= (p.Phe1134=) c.3576C= (p.Phe1192=) | |
7 | g.41965494G>T | CA367317742 | GLI3 | c.3579C>A (p.Phe1193Leu) c.3405C>A (p.Phe1135Leu) n.3556C>A c.3402C>A (p.Phe1134Leu) c.3576C>A (p.Phe1192Leu) | |
7 | g.41965495A>C | CA367317744 | GLI3 | c.3578T>G (p.Phe1193Cys) c.3404T>G (p.Phe1135Cys) n.3555T>G c.3401T>G (p.Phe1134Cys) c.3575T>G (p.Phe1192Cys) | |
7 | g.41965495A>G | CA367317745 | GLI3 | c.3578T>C (p.Phe1193Ser) c.3404T>C (p.Phe1135Ser) n.3555T>C c.3401T>C (p.Phe1134Ser) c.3575T>C (p.Phe1192Ser) | |
7 | g.41965495A>T | CA367317746 | GLI3 | c.3578T>A (p.Phe1193Tyr) c.3404T>A (p.Phe1135Tyr) n.3555T>A c.3401T>A (p.Phe1134Tyr) c.3575T>A (p.Phe1192Tyr) | |
7 | g.41965496A= | CA1702660787 | GLI3 | c.3577T= (p.Phe1193=) c.3403T= (p.Phe1135=) n.3554T= c.3400T= (p.Phe1134=) c.3574T= (p.Phe1192=) | |
7 | g.41965496A>C | CA367317747 | GLI3 | c.3577T>G (p.Phe1193Val) c.3403T>G (p.Phe1135Val) n.3554T>G c.3400T>G (p.Phe1134Val) c.3574T>G (p.Phe1192Val) | |
7 | g.41965496A>G | CA367317748 | GLI3 | c.3577T>C (p.Phe1193Leu) c.3403T>C (p.Phe1135Leu) n.3554T>C c.3400T>C (p.Phe1134Leu) c.3574T>C (p.Phe1192Leu) | dbSNP gnomAD v4 |
7 | g.41965496A>T | CA367317749 | GLI3 | c.3577T>A (p.Phe1193Ile) c.3403T>A (p.Phe1135Ile) n.3554T>A c.3400T>A (p.Phe1134Ile) c.3574T>A (p.Phe1192Ile) | |
7 | g.41965497C>A | CA454662750 | GLI3 | c.3576G>T (p.Gly1192=) c.3402G>T (p.Gly1134=) n.3553G>T c.3399G>T (p.Gly1133=) c.3573G>T (p.Gly1191=) | |
7 | g.41965497C>G | CA454662749 | GLI3 | c.3576G>C (p.Gly1192=) c.3402G>C (p.Gly1134=) n.3553G>C c.3399G>C (p.Gly1133=) c.3573G>C (p.Gly1191=) | |
7 | g.41965497C>T | CA454662748 | GLI3 | c.3576G>A (p.Gly1192=) c.3402G>A (p.Gly1134=) n.3553G>A c.3399G>A (p.Gly1133=) c.3573G>A (p.Gly1191=) | |
7 | g.41965498C>A | CA367317752 | GLI3 | c.3575G>T (p.Gly1192Val) c.3401G>T (p.Gly1134Val) n.3552G>T c.3398G>T (p.Gly1133Val) c.3572G>T (p.Gly1191Val) | gnomAD v4 COSMIC |
7 | g.41965498C= | CA1702660788 | GLI3 | c.3575G= (p.Gly1192=) c.3401G= (p.Gly1134=) n.3552G= c.3398G= (p.Gly1133=) c.3572G= (p.Gly1191=) | |
7 | g.41965498C>G | CA367317750 | GLI3 | c.3575G>C (p.Gly1192Ala) c.3401G>C (p.Gly1134Ala) n.3552G>C c.3398G>C (p.Gly1133Ala) c.3572G>C (p.Gly1191Ala) | |
7 | g.41965498C>T | CA367317751 | GLI3 | c.3575G>A (p.Gly1192Glu) c.3401G>A (p.Gly1134Glu) n.3552G>A c.3398G>A (p.Gly1133Glu) c.3572G>A (p.Gly1191Glu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41965499C>A | CA367317753 | GLI3 | c.3574G>T (p.Gly1192Trp) c.3400G>T (p.Gly1134Trp) n.3551G>T c.3397G>T (p.Gly1133Trp) c.3571G>T (p.Gly1191Trp) | |
7 | g.41965499C>G | CA367317754 | GLI3 | c.3574G>C (p.Gly1192Arg) c.3400G>C (p.Gly1134Arg) n.3551G>C c.3397G>C (p.Gly1133Arg) c.3571G>C (p.Gly1191Arg) | |
7 | g.41965499C>T | CA367317755 | GLI3 | c.3574G>A (p.Gly1192Arg) c.3400G>A (p.Gly1134Arg) n.3551G>A c.3397G>A (p.Gly1133Arg) c.3571G>A (p.Gly1191Arg) | |
7 | g.41965500A= | CA1702660789 | GLI3 | c.3573T= (p.Phe1191=) c.3399T= (p.Phe1133=) n.3550T= c.3396T= (p.Phe1132=) c.3570T= (p.Phe1190=) | |
7 | g.41965500A>C | CA367317756 | GLI3 | c.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 |
7 | g.41965500A>G | CA454662752 | GLI3 | c.3573T>C (p.Phe1191=) c.3399T>C (p.Phe1133=) n.3550T>C c.3396T>C (p.Phe1132=) c.3570T>C (p.Phe1190=) | |
7 | g.41965500A>T | CA367317757 | GLI3 | c.3573T>A (p.Phe1191Leu) c.3399T>A (p.Phe1133Leu) n.3550T>A c.3396T>A (p.Phe1132Leu) c.3570T>A (p.Phe1190Leu) | |
7 | g.41965502del | CA2682510062 | GLI3 | c.3573del (p.Phe1191LeufsTer15) c.3399del (p.Phe1133LeufsTer15) n.3550del c.3396del (p.Phe1132LeufsTer15) c.3570del (p.Phe1190LeufsTer15) | gnomAD v4 |
7 | g.41965501A>C | CA367317760 | GLI3 | c.3572T>G (p.Phe1191Cys) c.3398T>G (p.Phe1133Cys) n.3549T>G c.3395T>G (p.Phe1132Cys) c.3569T>G (p.Phe1190Cys) | |
7 | g.41965501A>G | CA367317758 | GLI3 | c.3572T>C (p.Phe1191Ser) c.3398T>C (p.Phe1133Ser) n.3549T>C c.3395T>C (p.Phe1132Ser) c.3569T>C (p.Phe1190Ser) | COSMIC |
7 | g.41965501A>T | CA367317759 | GLI3 | c.3572T>A (p.Phe1191Tyr) c.3398T>A (p.Phe1133Tyr) n.3549T>A c.3395T>A (p.Phe1132Tyr) c.3569T>A (p.Phe1190Tyr) | |
7 | g.41965502A>C | CA367317761 | GLI3 | c.3571T>G (p.Phe1191Val) c.3397T>G (p.Phe1133Val) n.3548T>G c.3394T>G (p.Phe1132Val) c.3568T>G (p.Phe1190Val) | |
7 | g.41965502A>G | CA367317762 | GLI3 | c.3571T>C (p.Phe1191Leu) c.3397T>C (p.Phe1133Leu) n.3548T>C c.3394T>C (p.Phe1132Leu) c.3568T>C (p.Phe1190Leu) | gnomAD v4 |
7 | g.41965502A>T | CA367317763 | GLI3 | c.3571T>A (p.Phe1191Ile) c.3397T>A (p.Phe1133Ile) n.3548T>A c.3394T>A (p.Phe1132Ile) c.3568T>A (p.Phe1190Ile) | |
7 | g.41965503G>A | CA454662753 | GLI3 | c.3570C>T (p.Ala1190=) c.3396C>T (p.Ala1132=) n.3547C>T c.3393C>T (p.Ala1131=) c.3567C>T (p.Ala1189=) | |
7 | g.41965503G>C | CA454662754 | GLI3 | c.3570C>G (p.Ala1190=) c.3396C>G (p.Ala1132=) n.3547C>G c.3393C>G (p.Ala1131=) c.3567C>G (p.Ala1189=) | |
7 | g.41965503G>T | CA454662755 | GLI3 | c.3570C>A (p.Ala1190=) c.3396C>A (p.Ala1132=) n.3547C>A c.3393C>A (p.Ala1131=) c.3567C>A (p.Ala1189=) | |
7 | g.41965504G>A | CA4230332 | GLI3 | c.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 |
7 | g.41965504G>C | CA367317764 | GLI3 | c.3569C>G (p.Ala1190Gly) c.3395C>G (p.Ala1132Gly) n.3546C>G c.3392C>G (p.Ala1131Gly) c.3566C>G (p.Ala1189Gly) | |
7 | g.41965504G= | CA1702660790 | GLI3 | c.3569C= (p.Ala1190=) c.3395C= (p.Ala1132=) n.3546C= c.3392C= (p.Ala1131=) c.3566C= (p.Ala1189=) | |
7 | g.41965504G>T | CA367317765 | GLI3 | c.3569C>A (p.Ala1190Asp) c.3395C>A (p.Ala1132Asp) n.3546C>A c.3392C>A (p.Ala1131Asp) c.3566C>A (p.Ala1189Asp) | gnomAD v4 |
7 | g.41965505C>A | CA4230333 | GLI3 | c.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 |
7 | g.41965505C= | CA1702660791 | GLI3 | c.3568G= (p.Ala1190=) c.3394G= (p.Ala1132=) n.3545G= c.3391G= (p.Ala1131=) c.3565G= (p.Ala1189=) | |
7 | g.41965505C>G | CA367317766 | GLI3 | c.3568G>C (p.Ala1190Pro) c.3394G>C (p.Ala1132Pro) n.3545G>C c.3391G>C (p.Ala1131Pro) c.3565G>C (p.Ala1189Pro) | |
7 | g.41965505C>T | CA156903746 | GLI3 | c.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 |
7 | g.41965505dup | CA2695207630 | GLI3 | c.3568dup (p.Ala1190GlyfsTer?) c.3394dup (p.Ala1132GlyfsTer?) n.3545dup c.3391dup (p.Ala1131GlyfsTer?) c.3565dup (p.Ala1189GlyfsTer?) | |
7 | g.41965506G>A | CA454662758 | GLI3 | c.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 |
7 | g.41965506G>C | CA454662759 | GLI3 | c.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 |
7 | g.41965506G= | CA1702660792 | GLI3 | c.3567C= (p.Arg1189=) c.3393C= (p.Arg1131=) n.3544C= c.3390C= (p.Arg1130=) c.3564C= (p.Arg1188=) | |
7 | g.41965506G>T | CA454662760 | GLI3 | c.3567C>A (p.Arg1189=) c.3393C>A (p.Arg1131=) n.3544C>A c.3390C>A (p.Arg1130=) c.3564C>A (p.Arg1188=) | |
7 | g.41965507C>A | CA367317767 | GLI3 | c.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 |
7 | g.41965507C= | CA1702660793 | GLI3 | c.3566G= (p.Arg1189=) c.3392G= (p.Arg1131=) n.3543G= c.3389G= (p.Arg1130=) c.3563G= (p.Arg1188=) | |
7 | g.41965507C>G | CA367317768 | GLI3 | c.3566G>C (p.Arg1189Pro) c.3392G>C (p.Arg1131Pro) n.3543G>C c.3389G>C (p.Arg1130Pro) c.3563G>C (p.Arg1188Pro) | |
7 | g.41965507C>T | CA367317769 | GLI3 | c.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 |
7 | g.41965507dup | CA573855668 | GLI3 | c.3566dup (p.Ala1190ArgfsTer?) c.3392dup (p.Ala1132ArgfsTer?) n.3543dup c.3389dup (p.Ala1131ArgfsTer?) c.3563dup (p.Ala1189ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41965508G>A | CA367317770 | GLI3 | c.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 |
7 | g.41965508G>C | CA367317772 | GLI3 | c.3565C>G (p.Arg1189Gly) c.3391C>G (p.Arg1131Gly) n.3542C>G c.3388C>G (p.Arg1130Gly) c.3562C>G (p.Arg1188Gly) | gnomAD v4 |
7 | g.41965508G= | CA1702660794 | GLI3 | c.3565C= (p.Arg1189=) c.3391C= (p.Arg1131=) n.3542C= c.3388C= (p.Arg1130=) c.3562C= (p.Arg1188=) | |
7 | g.41965508G>T | CA367317771 | GLI3 | c.3565C>A (p.Arg1189Ser) c.3391C>A (p.Arg1131Ser) n.3542C>A c.3388C>A (p.Arg1130Ser) c.3562C>A (p.Arg1188Ser) | |
7 | g.41965509_41965532del | CA2682510063 | GLI3 | c.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 |
7 | g.41965509A>C | CA454662764 | GLI3 | c.3564T>G (p.Thr1188=) c.3390T>G (p.Thr1130=) n.3541T>G c.3387T>G (p.Thr1129=) c.3561T>G (p.Thr1187=) | |
7 | g.41965509A>G | CA454662765 | GLI3 | c.3564T>C (p.Thr1188=) c.3390T>C (p.Thr1130=) n.3541T>C c.3387T>C (p.Thr1129=) c.3561T>C (p.Thr1187=) | gnomAD v4 |
7 | g.41965509A>T | CA454662766 | GLI3 | c.3564T>A (p.Thr1188=) c.3390T>A (p.Thr1130=) n.3541T>A c.3387T>A (p.Thr1129=) c.3561T>A (p.Thr1187=) | |
7 | g.41965510G>A | CA367317773 | GLI3 | c.3563C>T (p.Thr1188Ile) c.3389C>T (p.Thr1130Ile) n.3540C>T c.3386C>T (p.Thr1129Ile) c.3560C>T (p.Thr1187Ile) | gnomAD v4 |
7 | g.41965510G>C | CA367317774 | GLI3 | c.3563C>G (p.Thr1188Ser) c.3389C>G (p.Thr1130Ser) n.3540C>G c.3386C>G (p.Thr1129Ser) c.3560C>G (p.Thr1187Ser) | |
7 | g.41965510G>T | CA367317775 | GLI3 | c.3563C>A (p.Thr1188Asn) c.3389C>A (p.Thr1130Asn) n.3540C>A c.3386C>A (p.Thr1129Asn) c.3560C>A (p.Thr1187Asn) | |
7 | g.41965511T>A | CA367317776 | GLI3 | c.3562A>T (p.Thr1188Ser) c.3388A>T (p.Thr1130Ser) n.3539A>T c.3385A>T (p.Thr1129Ser) c.3559A>T (p.Thr1187Ser) | |
7 | g.41965511T>C | CA367317777 | GLI3 | c.3562A>G (p.Thr1188Ala) c.3388A>G (p.Thr1130Ala) n.3539A>G c.3385A>G (p.Thr1129Ala) c.3559A>G (p.Thr1187Ala) | |
7 | g.41965511T>G | CA367317778 | GLI3 | c.3562A>C (p.Thr1188Pro) c.3388A>C (p.Thr1130Pro) n.3539A>C c.3385A>C (p.Thr1129Pro) c.3559A>C (p.Thr1187Pro) | |
7 | g.41965512C>A | CA367317779 | GLI3 | c.3561G>T (p.Gln1187His) c.3387G>T (p.Gln1129His) n.3538G>T c.3384G>T (p.Gln1128His) c.3558G>T (p.Gln1186His) | |
7 | g.41965512C= | CA1702660795 | GLI3 | c.3561G= (p.Gln1187=) c.3387G= (p.Gln1129=) n.3538G= c.3384G= (p.Gln1128=) c.3558G= (p.Gln1186=) | |
7 | g.41965512C>G | CA4230334 | GLI3 | c.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 |
7 | g.41965512C>T | CA454662769 | GLI3 | c.3561G>A (p.Gln1187=) c.3387G>A (p.Gln1129=) n.3538G>A c.3384G>A (p.Gln1128=) c.3558G>A (p.Gln1186=) | |
7 | g.41965513T>A | CA367317780 | GLI3 | c.3560A>T (p.Gln1187Leu) c.3386A>T (p.Gln1129Leu) n.3537A>T c.3383A>T (p.Gln1128Leu) c.3557A>T (p.Gln1186Leu) | |
7 | g.41965513T>C | CA367317781 | GLI3 | c.3560A>G (p.Gln1187Arg) c.3386A>G (p.Gln1129Arg) n.3537A>G c.3383A>G (p.Gln1128Arg) c.3557A>G (p.Gln1186Arg) | COSMIC |
7 | g.41965513T>G | CA367317782 | GLI3 | c.3560A>C (p.Gln1187Pro) c.3386A>C (p.Gln1129Pro) n.3537A>C c.3383A>C (p.Gln1128Pro) c.3557A>C (p.Gln1186Pro) | |
7 | g.41965513T= | CA1702660796 | GLI3 | c.3560A= (p.Gln1187=) c.3386A= (p.Gln1129=) n.3537A= c.3383A= (p.Gln1128=) c.3557A= (p.Gln1186=) | |
7 | g.41965514G>A | CA367317785 | GLI3 | c.3559C>T (p.Gln1187Ter) c.3385C>T (p.Gln1129Ter) n.3536C>T c.3382C>T (p.Gln1128Ter) c.3556C>T (p.Gln1186Ter) | gnomAD v4 |
7 | g.41965514G>C | CA367317784 | GLI3 | c.3559C>G (p.Gln1187Glu) c.3385C>G (p.Gln1129Glu) n.3536C>G c.3382C>G (p.Gln1128Glu) c.3556C>G (p.Gln1186Glu) | |
7 | g.41965514G= | CA1702660797 | GLI3 | c.3559C= (p.Gln1187=) c.3385C= (p.Gln1129=) n.3536C= c.3382C= (p.Gln1128=) c.3556C= (p.Gln1186=) | |
7 | g.41965514G>T | CA367317783 | GLI3 | c.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 |
7 | g.41965519_41965533dup | CA1702660798 | GLI3 | c.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 |
7 | g.41965515C>A | CA454662774 | GLI3 | c.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 |
7 | g.41965515C= | CA1702660799 | GLI3 | c.3558G= (p.Pro1186=) c.3384G= (p.Pro1128=) n.3535G= c.3381G= (p.Pro1127=) c.3555G= (p.Pro1185=) | |
7 | g.41965515C>G | CA454662773 | GLI3 | c.3558G>C (p.Pro1186=) c.3384G>C (p.Pro1128=) n.3535G>C c.3381G>C (p.Pro1127=) c.3555G>C (p.Pro1185=) | |
7 | g.41965515C>T | CA4230335 | GLI3 | c.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 |
7 | g.41965516G>A | CA4230336 | GLI3 | c.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 |
7 | g.41965516G>C | CA367317786 | GLI3 | c.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 |
7 | g.41965516G= | CA1702660800 | GLI3 | c.3557C= (p.Pro1186=) c.3383C= (p.Pro1128=) n.3534C= c.3380C= (p.Pro1127=) c.3554C= (p.Pro1185=) | |
7 | g.41965516G>T | CA367317787 | GLI3 | c.3557C>A (p.Pro1186Gln) c.3383C>A (p.Pro1128Gln) n.3534C>A c.3380C>A (p.Pro1127Gln) c.3554C>A (p.Pro1185Gln) | |
7 | g.41965517G>A | CA367317788 | GLI3 | c.3556C>T (p.Pro1186Ser) c.3382C>T (p.Pro1128Ser) n.3533C>T c.3379C>T (p.Pro1127Ser) c.3553C>T (p.Pro1185Ser) | gnomAD v4 |
7 | g.41965517G>C | CA367317789 | GLI3 | c.3556C>G (p.Pro1186Ala) c.3382C>G (p.Pro1128Ala) n.3533C>G c.3379C>G (p.Pro1127Ala) c.3553C>G (p.Pro1185Ala) | |
7 | g.41965517G>T | CA367317790 | GLI3 | c.3556C>A (p.Pro1186Thr) c.3382C>A (p.Pro1128Thr) n.3533C>A c.3379C>A (p.Pro1127Thr) c.3553C>A (p.Pro1185Thr) | |
7 | g.41965518C>A | CA454662776 | GLI3 | c.3555G>T (p.Val1185=) c.3381G>T (p.Val1127=) n.3532G>T c.3378G>T (p.Val1126=) c.3552G>T (p.Val1184=) | |
7 | g.41965518C>G | CA454662777 | GLI3 | c.3555G>C (p.Val1185=) c.3381G>C (p.Val1127=) n.3532G>C c.3378G>C (p.Val1126=) c.3552G>C (p.Val1184=) | |
7 | g.41965518C>T | CA454662778 | GLI3 | c.3555G>A (p.Val1185=) c.3381G>A (p.Val1127=) n.3532G>A c.3378G>A (p.Val1126=) c.3552G>A (p.Val1184=) | |
7 | g.41965519A= | CA1702660801 | GLI3 | c.3554T= (p.Val1185=) c.3380T= (p.Val1127=) n.3531T= c.3377T= (p.Val1126=) c.3551T= (p.Val1184=) | |
7 | g.41965519A>C | CA4230337 | GLI3 | c.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 |
7 | g.41965519A>G | CA367317791 | GLI3 | c.3554T>C (p.Val1185Ala) c.3380T>C (p.Val1127Ala) n.3531T>C c.3377T>C (p.Val1126Ala) c.3551T>C (p.Val1184Ala) | |
7 | g.41965519A>T | CA367317792 | GLI3 | c.3554T>A (p.Val1185Glu) c.3380T>A (p.Val1127Glu) n.3531T>A c.3377T>A (p.Val1126Glu) c.3551T>A (p.Val1184Glu) | |
7 | g.41965520C>A | CA367317793 | GLI3 | c.3553G>T (p.Val1185Leu) c.3379G>T (p.Val1127Leu) n.3530G>T c.3376G>T (p.Val1126Leu) c.3550G>T (p.Val1184Leu) | |
7 | g.41965520C>G | CA367317794 | GLI3 | c.3553G>C (p.Val1185Leu) c.3379G>C (p.Val1127Leu) n.3530G>C c.3376G>C (p.Val1126Leu) c.3550G>C (p.Val1184Leu) | |
7 | g.41965520C>T | CA367317795 | GLI3 | c.3553G>A (p.Val1185Met) c.3379G>A (p.Val1127Met) n.3530G>A c.3376G>A (p.Val1126Met) c.3550G>A (p.Val1184Met) | |
7 | g.41965520dup | CA2838196902 | GLI3 | c.3553dup (p.Val1185GlyfsTer?) c.3379dup (p.Val1127GlyfsTer?) n.3530dup c.3376dup (p.Val1126GlyfsTer?) c.3550dup (p.Val1184GlyfsTer?) | |
7 | g.41965521A>C | CA454662782 | GLI3 | c.3552T>G (p.Ala1184=) c.3378T>G (p.Ala1126=) n.3529T>G c.3375T>G (p.Ala1125=) c.3549T>G (p.Ala1183=) | |
7 | g.41965521A>G | CA454662779 | GLI3 | c.3552T>C (p.Ala1184=) c.3378T>C (p.Ala1126=) n.3529T>C c.3375T>C (p.Ala1125=) c.3549T>C (p.Ala1183=) | |
7 | g.41965521A>T | CA454662781 | GLI3 | c.3552T>A (p.Ala1184=) c.3378T>A (p.Ala1126=) n.3529T>A c.3375T>A (p.Ala1125=) c.3549T>A (p.Ala1183=) | |
7 | g.41965522G>A | CA367317797 | GLI3 | c.3551C>T (p.Ala1184Val) c.3377C>T (p.Ala1126Val) n.3528C>T c.3374C>T (p.Ala1125Val) c.3548C>T (p.Ala1183Val) | gnomAD v4 |
7 | g.41965522G>C | CA367317798 | GLI3 | c.3551C>G (p.Ala1184Gly) c.3377C>G (p.Ala1126Gly) n.3528C>G c.3374C>G (p.Ala1125Gly) c.3548C>G (p.Ala1183Gly) | |
7 | g.41965522G= | CA1702660802 | GLI3 | c.3551C= (p.Ala1184=) c.3377C= (p.Ala1126=) n.3528C= c.3374C= (p.Ala1125=) c.3548C= (p.Ala1183=) | |
7 | g.41965522G>T | CA367317796 | GLI3 | c.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 |
7 | g.41965523C>A | CA367317800 | GLI3 | c.3550G>T (p.Ala1184Ser) c.3376G>T (p.Ala1126Ser) n.3527G>T c.3373G>T (p.Ala1125Ser) c.3547G>T (p.Ala1183Ser) | gnomAD v4 |
7 | g.41965523C= | CA1702660803 | GLI3 | c.3550G= (p.Ala1184=) c.3376G= (p.Ala1126=) n.3527G= c.3373G= (p.Ala1125=) c.3547G= (p.Ala1183=) | |
7 | g.41965523C>G | CA367317799 | GLI3 | c.3550G>C (p.Ala1184Pro) c.3376G>C (p.Ala1126Pro) n.3527G>C c.3373G>C (p.Ala1125Pro) c.3547G>C (p.Ala1183Pro) | |
7 | g.41965523C>T | CA367317801 | GLI3 | c.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 |
7 | g.41965524_41965534del | CA2580077121 | GLI3 | c.3540_3550del (p.Pro1181CysfsTer?) c.3366_3376del (p.Pro1123CysfsTer?) n.3517_3527del c.3363_3373del (p.Pro1122CysfsTer?) c.3537_3547del (p.Pro1180CysfsTer?) | ClinVar dbSNP |
7 | g.41965524G>A | CA4230338 | GLI3 | c.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 |
7 | g.41965524G>C | CA4230339 | GLI3 | c.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 |
7 | g.41965524G= | CA1702660804 | GLI3 | c.3549C= (p.Pro1183=) c.3375C= (p.Pro1125=) n.3526C= c.3372C= (p.Pro1124=) c.3546C= (p.Pro1182=) | |
7 | g.41965524G>T | CA454662783 | GLI3 | c.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 |
7 | g.41965525G>A | CA367317802 | GLI3 | c.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 |
7 | g.41965525G>C | CA367317803 | GLI3 | c.3548C>G (p.Pro1183Arg) c.3374C>G (p.Pro1125Arg) n.3525C>G c.3371C>G (p.Pro1124Arg) c.3545C>G (p.Pro1182Arg) | |
7 | g.41965525G= | CA1702660805 | GLI3 | c.3548C= (p.Pro1183=) c.3374C= (p.Pro1125=) n.3525C= c.3371C= (p.Pro1124=) c.3545C= (p.Pro1182=) | |
7 | g.41965525G>T | CA367317804 | GLI3 | c.3548C>A (p.Pro1183His) c.3374C>A (p.Pro1125His) n.3525C>A c.3371C>A (p.Pro1124His) c.3545C>A (p.Pro1182His) | gnomAD v4 |
7 | g.41965526G>A | CA367317805 | GLI3 | c.3547C>T (p.Pro1183Ser) c.3373C>T (p.Pro1125Ser) n.3524C>T c.3370C>T (p.Pro1124Ser) c.3544C>T (p.Pro1182Ser) | gnomAD v4 |
7 | g.41965526G>C | CA367317806 | GLI3 | c.3547C>G (p.Pro1183Ala) c.3373C>G (p.Pro1125Ala) n.3524C>G c.3370C>G (p.Pro1124Ala) c.3544C>G (p.Pro1182Ala) | |
7 | g.41965526G>T | CA367317807 | GLI3 | c.3547C>A (p.Pro1183Thr) c.3373C>A (p.Pro1125Thr) n.3524C>A c.3370C>A (p.Pro1124Thr) c.3544C>A (p.Pro1182Thr) | |
7 | g.41965527C>A | CA454662787 | GLI3 | c.3546G>T (p.Arg1182=) c.3372G>T (p.Arg1124=) n.3523G>T c.3369G>T (p.Arg1123=) c.3543G>T (p.Arg1181=) | |
7 | g.41965527C>G | CA454662785 | GLI3 | c.3546G>C (p.Arg1182=) c.3372G>C (p.Arg1124=) n.3523G>C c.3369G>C (p.Arg1123=) c.3543G>C (p.Arg1181=) | |
7 | g.41965527C>T | CA454662786 | GLI3 | c.3546G>A (p.Arg1182=) c.3372G>A (p.Arg1124=) n.3523G>A c.3369G>A (p.Arg1123=) c.3543G>A (p.Arg1181=) | |
7 | g.41965528C>A | CA367317808 | GLI3 | c.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 |
7 | g.41965528C= | CA1702660806 | GLI3 | c.3545G= (p.Arg1182=) c.3371G= (p.Arg1124=) n.3522G= c.3368G= (p.Arg1123=) c.3542G= (p.Arg1181=) | |
7 | g.41965528C>G | CA367317809 | GLI3 | c.3545G>C (p.Arg1182Pro) c.3371G>C (p.Arg1124Pro) n.3522G>C c.3368G>C (p.Arg1123Pro) c.3542G>C (p.Arg1181Pro) | |
7 | g.41965528C>T | CA367317810 | GLI3 | c.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 |
7 | g.41965529G>A | CA367317811 | GLI3 | c.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 |
7 | g.41965529G>C | CA367317812 | GLI3 | c.3544C>G (p.Arg1182Gly) c.3370C>G (p.Arg1124Gly) n.3521C>G c.3367C>G (p.Arg1123Gly) c.3541C>G (p.Arg1181Gly) | |
7 | g.41965529G= | CA1702660807 | GLI3 | c.3544C= (p.Arg1182=) c.3370C= (p.Arg1124=) n.3521C= c.3367C= (p.Arg1123=) c.3541C= (p.Arg1181=) | |
7 | g.41965529G>T | CA454662790 | GLI3 | c.3544C>A (p.Arg1182=) c.3370C>A (p.Arg1124=) n.3521C>A c.3367C>A (p.Arg1123=) c.3541C>A (p.Arg1181=) | |
7 | g.41965530C>A | CA156903813 | GLI3 | c.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 |
7 | g.41965530C= | CA1702660808 | GLI3 | c.3543G= (p.Pro1181=) c.3369G= (p.Pro1123=) n.3520G= c.3366G= (p.Pro1122=) c.3540G= (p.Pro1180=) | |
7 | g.41965530C>G | CA454662791 | GLI3 | c.3543G>C (p.Pro1181=) c.3369G>C (p.Pro1123=) n.3520G>C c.3366G>C (p.Pro1122=) c.3540G>C (p.Pro1180=) | gnomAD v4 |
7 | g.41965530C>T | CA454662793 | GLI3 | c.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 |
7 | g.41965531G>A | CA367317813 | GLI3 | c.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 |
7 | g.41965531G>C | CA367317815 | GLI3 | c.3542C>G (p.Pro1181Arg) c.3368C>G (p.Pro1123Arg) n.3519C>G c.3365C>G (p.Pro1122Arg) c.3539C>G (p.Pro1180Arg) | |
7 | g.41965531G= | CA1702660809 | GLI3 | c.3542C= (p.Pro1181=) c.3368C= (p.Pro1123=) n.3519C= c.3365C= (p.Pro1122=) c.3539C= (p.Pro1180=) | |
7 | g.41965531G>T | CA367317814 | GLI3 | c.3542C>A (p.Pro1181Gln) c.3368C>A (p.Pro1123Gln) n.3519C>A c.3365C>A (p.Pro1122Gln) c.3539C>A (p.Pro1180Gln) | |
7 | g.41965532G>A | CA367317816 | GLI3 | c.3541C>T (p.Pro1181Ser) c.3367C>T (p.Pro1123Ser) n.3518C>T c.3364C>T (p.Pro1122Ser) c.3538C>T (p.Pro1180Ser) | gnomAD v4 |
7 | g.41965532G>C | CA367317817 | GLI3 | c.3541C>G (p.Pro1181Ala) c.3367C>G (p.Pro1123Ala) n.3518C>G c.3364C>G (p.Pro1122Ala) c.3538C>G (p.Pro1180Ala) | |
7 | g.41965532G>T | CA367317818 | GLI3 | c.3541C>A (p.Pro1181Thr) c.3367C>A (p.Pro1123Thr) n.3518C>A c.3364C>A (p.Pro1122Thr) c.3538C>A (p.Pro1180Thr) | gnomAD v4 |
7 | g.41965533C>A | CA454662795 | GLI3 | c.3540G>T (p.Gly1180=) c.3366G>T (p.Gly1122=) n.3517G>T c.3363G>T (p.Gly1121=) c.3537G>T (p.Gly1179=) | |
7 | g.41965533C= | CA1702660810 | GLI3 | c.3540G= (p.Gly1180=) c.3366G= (p.Gly1122=) n.3517G= c.3363G= (p.Gly1121=) c.3537G= (p.Gly1179=) | |
7 | g.41965533C>G | CA454662796 | GLI3 | c.3540G>C (p.Gly1180=) c.3366G>C (p.Gly1122=) n.3517G>C c.3363G>C (p.Gly1121=) c.3537G>C (p.Gly1179=) | |
7 | g.41965533C>T | CA4230340 | GLI3 | c.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 |
7 | g.41965535dup | CA2840406858 | GLI3 | c.3540dup (p.Pro1181AlafsTer?) c.3366dup (p.Pro1123AlafsTer?) n.3517dup c.3363dup (p.Pro1122AlafsTer?) c.3537dup (p.Pro1180AlafsTer?) | |
7 | g.41965534C>A | CA367317819 | GLI3 | c.3539G>T (p.Gly1180Val) c.3365G>T (p.Gly1122Val) n.3516G>T c.3362G>T (p.Gly1121Val) c.3536G>T (p.Gly1179Val) | gnomAD v4 |
7 | g.41965534C= | CA1702660811 | GLI3 | c.3539G= (p.Gly1180=) c.3365G= (p.Gly1122=) n.3516G= c.3362G= (p.Gly1121=) c.3536G= (p.Gly1179=) | |
7 | g.41965534C>G | CA4230341 | GLI3 | c.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 |
7 | g.41965534C>T | CA367317820 | GLI3 | c.3539G>A (p.Gly1180Glu) c.3365G>A (p.Gly1122Glu) n.3516G>A c.3362G>A (p.Gly1121Glu) c.3536G>A (p.Gly1179Glu) | |
7 | g.41965535C>A | CA367317821 | GLI3 | c.3538G>T (p.Gly1180Trp) c.3364G>T (p.Gly1122Trp) n.3515G>T c.3361G>T (p.Gly1121Trp) c.3535G>T (p.Gly1179Trp) | gnomAD v4 |
7 | g.41965535C= | CA1702660812 | GLI3 | c.3538G= (p.Gly1180=) c.3364G= (p.Gly1122=) n.3515G= c.3361G= (p.Gly1121=) c.3535G= (p.Gly1179=) | |
7 | g.41965535C>G | CA367317822 | GLI3 | c.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 |
7 | g.41965535C>T | CA367317823 | GLI3 | c.3538G>A (p.Gly1180Arg) c.3364G>A (p.Gly1122Arg) n.3515G>A c.3361G>A (p.Gly1121Arg) c.3535G>A (p.Gly1179Arg) | |
7 | g.41965536A>C | CA367317825 | GLI3 | c.3537T>G (p.Cys1179Trp) c.3363T>G (p.Cys1121Trp) n.3514T>G c.3360T>G (p.Cys1120Trp) c.3534T>G (p.Cys1178Trp) | |
7 | g.41965536A>G | CA454662800 | GLI3 | c.3537T>C (p.Cys1179=) c.3363T>C (p.Cys1121=) n.3514T>C c.3360T>C (p.Cys1120=) c.3534T>C (p.Cys1178=) | gnomAD v4 |
7 | g.41965536A>T | CA367317824 | GLI3 | c.3537T>A (p.Cys1179Ter) c.3363T>A (p.Cys1121Ter) n.3514T>A c.3360T>A (p.Cys1120Ter) c.3534T>A (p.Cys1178Ter) | |
7 | g.41965537C>A | CA367317826 | GLI3 | c.3536G>T (p.Cys1179Phe) c.3362G>T (p.Cys1121Phe) n.3513G>T c.3359G>T (p.Cys1120Phe) c.3533G>T (p.Cys1178Phe) | |
7 | g.41965537C>G | CA367317827 | GLI3 | c.3536G>C (p.Cys1179Ser) c.3362G>C (p.Cys1121Ser) n.3513G>C c.3359G>C (p.Cys1120Ser) c.3533G>C (p.Cys1178Ser) | |
7 | g.41965537C>T | CA367317828 | GLI3 | c.3536G>A (p.Cys1179Tyr) c.3362G>A (p.Cys1121Tyr) n.3513G>A c.3359G>A (p.Cys1120Tyr) c.3533G>A (p.Cys1178Tyr) | |
7 | g.41965538A>C | CA367317829 | GLI3 | c.3535T>G (p.Cys1179Gly) c.3361T>G (p.Cys1121Gly) n.3512T>G c.3358T>G (p.Cys1120Gly) c.3532T>G (p.Cys1178Gly) | gnomAD v4 |
7 | g.41965538A>G | CA367317830 | GLI3 | c.3535T>C (p.Cys1179Arg) c.3361T>C (p.Cys1121Arg) n.3512T>C c.3358T>C (p.Cys1120Arg) c.3532T>C (p.Cys1178Arg) | |
7 | g.41965538A>T | CA367317831 | GLI3 | c.3535T>A (p.Cys1179Ser) c.3361T>A (p.Cys1121Ser) n.3512T>A c.3358T>A (p.Cys1120Ser) c.3532T>A (p.Cys1178Ser) | |
7 | g.41965539C>A | CA367317832 | GLI3 | c.3534G>T (p.Lys1178Asn) c.3360G>T (p.Lys1120Asn) n.3511G>T c.3357G>T (p.Lys1119Asn) c.3531G>T (p.Lys1177Asn) | gnomAD v4 |
7 | g.41965539C= | CA1702660813 | GLI3 | c.3534G= (p.Lys1178=) c.3360G= (p.Lys1120=) n.3511G= c.3357G= (p.Lys1119=) c.3531G= (p.Lys1177=) | |
7 | g.41965539C>G | CA156903847 | GLI3 | c.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 |
7 | g.41965539C>T | CA454662802 | GLI3 | c.3534G>A (p.Lys1178=) c.3360G>A (p.Lys1120=) n.3511G>A c.3357G>A (p.Lys1119=) c.3531G>A (p.Lys1177=) | dbSNP |
7 | g.41965540T>A | CA367317833 | GLI3 | c.3533A>T (p.Lys1178Met) c.3359A>T (p.Lys1120Met) n.3510A>T c.3356A>T (p.Lys1119Met) c.3530A>T (p.Lys1177Met) | |
7 | g.41965540T>C | CA367317834 | GLI3 | c.3533A>G (p.Lys1178Arg) c.3359A>G (p.Lys1120Arg) n.3510A>G c.3356A>G (p.Lys1119Arg) c.3530A>G (p.Lys1177Arg) | gnomAD v4 |
7 | g.41965540T>G | CA367317835 | GLI3 | c.3533A>C (p.Lys1178Thr) c.3359A>C (p.Lys1120Thr) n.3510A>C c.3356A>C (p.Lys1119Thr) c.3530A>C (p.Lys1177Thr) | |
7 | g.41965541T>A | CA367317836 | GLI3 | c.3532A>T (p.Lys1178Ter) c.3358A>T (p.Lys1120Ter) n.3509A>T c.3355A>T (p.Lys1119Ter) c.3529A>T (p.Lys1177Ter) | |
7 | g.41965541T>C | CA367317837 | GLI3 | c.3532A>G (p.Lys1178Glu) c.3358A>G (p.Lys1120Glu) n.3509A>G c.3355A>G (p.Lys1119Glu) c.3529A>G (p.Lys1177Glu) | COSMIC |
7 | g.41965541T>G | CA367317838 | GLI3 | c.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 |
7 | g.41965541T= | CA1702660814 | GLI3 | c.3532A= (p.Lys1178=) c.3358A= (p.Lys1120=) n.3509A= c.3355A= (p.Lys1119=) c.3529A= (p.Lys1177=) | |
7 | g.41965542G>A | CA454662804 | GLI3 | c.3531C>T (p.Leu1177=) c.3357C>T (p.Leu1119=) n.3508C>T c.3354C>T (p.Leu1118=) c.3528C>T (p.Leu1176=) | COSMIC |
7 | g.41965542G>C | CA454662806 | GLI3 | c.3531C>G (p.Leu1177=) c.3357C>G (p.Leu1119=) n.3508C>G c.3354C>G (p.Leu1118=) c.3528C>G (p.Leu1176=) | gnomAD v4 |
7 | g.41965542G>T | CA454662808 | GLI3 | c.3531C>A (p.Leu1177=) c.3357C>A (p.Leu1119=) n.3508C>A c.3354C>A (p.Leu1118=) c.3528C>A (p.Leu1176=) | |
7 | g.41965543A= | CA1702660815 | GLI3 | c.3530T= (p.Leu1177=) c.3356T= (p.Leu1119=) n.3507T= c.3353T= (p.Leu1118=) c.3527T= (p.Leu1176=) | |
7 | g.41965543A>C | CA367317839 | GLI3 | c.3530T>G (p.Leu1177Arg) c.3356T>G (p.Leu1119Arg) n.3507T>G c.3353T>G (p.Leu1118Arg) c.3527T>G (p.Leu1176Arg) | |
7 | g.41965543A>G | CA367317841 | GLI3 | c.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 |
7 | g.41965543A>T | CA367317840 | GLI3 | c.3530T>A (p.Leu1177His) c.3356T>A (p.Leu1119His) n.3507T>A c.3353T>A (p.Leu1118His) c.3527T>A (p.Leu1176His) | |
7 | g.41965544G>A | CA367317842 | GLI3 | c.3529C>T (p.Leu1177Phe) c.3355C>T (p.Leu1119Phe) n.3506C>T c.3352C>T (p.Leu1118Phe) c.3526C>T (p.Leu1176Phe) | |
7 | g.41965544G>C | CA367317843 | GLI3 | c.3529C>G (p.Leu1177Val) c.3355C>G (p.Leu1119Val) n.3506C>G c.3352C>G (p.Leu1118Val) c.3526C>G (p.Leu1176Val) | gnomAD v4 |
7 | g.41965544G>T | CA367317844 | GLI3 | c.3529C>A (p.Leu1177Ile) c.3355C>A (p.Leu1119Ile) n.3506C>A c.3352C>A (p.Leu1118Ile) c.3526C>A (p.Leu1176Ile) | |
7 | g.41965545C>A | CA367317845 | GLI3 | c.3528G>T (p.Lys1176Asn) c.3354G>T (p.Lys1118Asn) n.3505G>T c.3351G>T (p.Lys1117Asn) c.3525G>T (p.Lys1175Asn) | |
7 | g.41965545C= | CA1702660816 | GLI3 | c.3528G= (p.Lys1176=) c.3354G= (p.Lys1118=) n.3505G= c.3351G= (p.Lys1117=) c.3525G= (p.Lys1175=) | |
7 | g.41965545C>G | CA4230342 | GLI3 | c.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 |
7 | g.41965545C>T | CA454662810 | GLI3 | c.3528G>A (p.Lys1176=) c.3354G>A (p.Lys1118=) n.3505G>A c.3351G>A (p.Lys1117=) c.3525G>A (p.Lys1175=) | gnomAD v4 |
7 | g.41965546T>A | CA367317846 | GLI3 | c.3527A>T (p.Lys1176Met) c.3353A>T (p.Lys1118Met) n.3504A>T c.3350A>T (p.Lys1117Met) c.3524A>T (p.Lys1175Met) | |
7 | g.41965546T>C | CA367317847 | GLI3 | c.3527A>G (p.Lys1176Arg) c.3353A>G (p.Lys1118Arg) n.3504A>G c.3350A>G (p.Lys1117Arg) c.3524A>G (p.Lys1175Arg) | |
7 | g.41965546T>G | CA367317848 | GLI3 | c.3527A>C (p.Lys1176Thr) c.3353A>C (p.Lys1118Thr) n.3504A>C c.3350A>C (p.Lys1117Thr) c.3524A>C (p.Lys1175Thr) | |
7 | g.41965547T>A | CA367317849 | GLI3 | c.3526A>T (p.Lys1176Ter) c.3352A>T (p.Lys1118Ter) n.3503A>T c.3349A>T (p.Lys1117Ter) c.3523A>T (p.Lys1175Ter) | |
7 | g.41965547T>C | CA367317850 | GLI3 | c.3526A>G (p.Lys1176Glu) c.3352A>G (p.Lys1118Glu) n.3503A>G c.3349A>G (p.Lys1117Glu) c.3523A>G (p.Lys1175Glu) | ClinVar |
7 | g.41965547T>G | CA367317851 | GLI3 | c.3526A>C (p.Lys1176Gln) c.3352A>C (p.Lys1118Gln) n.3503A>C c.3349A>C (p.Lys1117Gln) c.3523A>C (p.Lys1175Gln) | |
7 | g.41965547_41965550delinsTGGA | CA1702660817 | GLI3 | c.3523_3526delinsTCCA (p.Ser1175=) c.3349_3352delinsTCCA (p.Ser1117=) n.3500_3503delinsTCCA c.3346_3349delinsTCCA (p.Ser1116=) c.3520_3523delinsTCCA (p.Ser1174=) | |
7 | g.41965548G>A | CA454662814 | GLI3 | c.3525C>T (p.Ser1175=) c.3351C>T (p.Ser1117=) n.3502C>T c.3348C>T (p.Ser1116=) c.3522C>T (p.Ser1174=) | |
7 | g.41965548G>C | CA454662816 | GLI3 | c.3525C>G (p.Ser1175=) c.3351C>G (p.Ser1117=) n.3502C>G c.3348C>G (p.Ser1116=) c.3522C>G (p.Ser1174=) | gnomAD v4 |
7 | g.41965548G>T | CA454662815 | GLI3 | c.3525C>A (p.Ser1175=) c.3351C>A (p.Ser1117=) n.3502C>A c.3348C>A (p.Ser1116=) c.3522C>A (p.Ser1174=) | |
7 | g.41965554_41965556del | CA573855669 | GLI3 | c.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 |
7 | g.41965549G>A | CA367317853 | GLI3 | c.3524C>T (p.Ser1175Phe) c.3350C>T (p.Ser1117Phe) n.3501C>T c.3347C>T (p.Ser1116Phe) c.3521C>T (p.Ser1174Phe) | |
7 | g.41965549G>C | CA367317854 | GLI3 | c.3524C>G (p.Ser1175Cys) c.3350C>G (p.Ser1117Cys) n.3501C>G c.3347C>G (p.Ser1116Cys) c.3521C>G (p.Ser1174Cys) | |
7 | g.41965549G>T | CA367317852 | GLI3 | c.3524C>A (p.Ser1175Tyr) c.3350C>A (p.Ser1117Tyr) n.3501C>A c.3347C>A (p.Ser1116Tyr) c.3521C>A (p.Ser1174Tyr) | |
7 | g.41965550del | CA2695198480 | GLI3 | c.3523del (p.Ser1175ProfsTer?) c.3349del (p.Ser1117ProfsTer?) n.3500del c.3346del (p.Ser1116ProfsTer?) c.3520del (p.Ser1174ProfsTer?) | ClinVar |
7 | g.41965550A>C | CA367317857 | GLI3 | c.3523T>G (p.Ser1175Ala) c.3349T>G (p.Ser1117Ala) n.3500T>G c.3346T>G (p.Ser1116Ala) c.3520T>G (p.Ser1174Ala) | |
7 | g.41965550A>G | CA367317855 | GLI3 | c.3523T>C (p.Ser1175Pro) c.3349T>C (p.Ser1117Pro) n.3500T>C c.3346T>C (p.Ser1116Pro) c.3520T>C (p.Ser1174Pro) | |
7 | g.41965550A>T | CA367317856 | GLI3 | c.3523T>A (p.Ser1175Thr) c.3349T>A (p.Ser1117Thr) n.3500T>A c.3346T>A (p.Ser1116Thr) c.3520T>A (p.Ser1174Thr) | |
7 | g.41965551G>A | CA454662820 | GLI3 | c.3522C>T (p.Ser1174=) c.3348C>T (p.Ser1116=) n.3499C>T c.3345C>T (p.Ser1115=) c.3519C>T (p.Ser1173=) | ClinVar dbSNP |
7 | g.41965551G>C | CA454662821 | GLI3 | c.3522C>G (p.Ser1174=) c.3348C>G (p.Ser1116=) n.3499C>G c.3345C>G (p.Ser1115=) c.3519C>G (p.Ser1173=) | |
7 | g.41965551G= | CA1702660818 | GLI3 | c.3522C= (p.Ser1174=) c.3348C= (p.Ser1116=) n.3499C= c.3345C= (p.Ser1115=) c.3519C= (p.Ser1173=) | |
7 | g.41965551G>T | CA454662822 | GLI3 | c.3522C>A (p.Ser1174=) c.3348C>A (p.Ser1116=) n.3499C>A c.3345C>A (p.Ser1115=) c.3519C>A (p.Ser1173=) | |
7 | g.41965552G>A | CA367317858 | GLI3 | c.3521C>T (p.Ser1174Phe) c.3347C>T (p.Ser1116Phe) n.3498C>T c.3344C>T (p.Ser1115Phe) c.3518C>T (p.Ser1173Phe) | |
7 | g.41965552G>C | CA367317859 | GLI3 | c.3521C>G (p.Ser1174Cys) c.3347C>G (p.Ser1116Cys) n.3498C>G c.3344C>G (p.Ser1115Cys) c.3518C>G (p.Ser1173Cys) | |
7 | g.41965552G>T | CA367317860 | GLI3 | c.3521C>A (p.Ser1174Tyr) c.3347C>A (p.Ser1116Tyr) n.3498C>A c.3344C>A (p.Ser1115Tyr) c.3518C>A (p.Ser1173Tyr) | |
7 | g.41965553A= | CA1702660819 | GLI3 | c.3520T= (p.Ser1174=) c.3346T= (p.Ser1116=) n.3497T= c.3343T= (p.Ser1115=) c.3517T= (p.Ser1173=) | |
7 | g.41965553A>C | CA367317862 | GLI3 | c.3520T>G (p.Ser1174Ala) c.3346T>G (p.Ser1116Ala) n.3497T>G c.3343T>G (p.Ser1115Ala) c.3517T>G (p.Ser1173Ala) | |
7 | g.41965553A>G | CA4230343 | GLI3 | c.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 |
7 | g.41965553A>T | CA367317861 | GLI3 | c.3520T>A (p.Ser1174Thr) c.3346T>A (p.Ser1116Thr) n.3497T>A c.3343T>A (p.Ser1115Thr) c.3517T>A (p.Ser1173Thr) | |
7 | g.41965554G>A | CA454661911 | GLI3 | c.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 |
7 | g.41965554G>C | CA454661912 | GLI3 | c.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 |
7 | g.41965554G= | CA1702660820 | GLI3 | c.3519C= (p.Ser1173=) c.3345C= (p.Ser1115=) n.3496C= c.3342C= (p.Ser1114=) c.3516C= (p.Ser1172=) | |
7 | g.41965554G>T | CA454661913 | GLI3 | c.3519C>A (p.Ser1173=) c.3345C>A (p.Ser1115=) n.3496C>A c.3342C>A (p.Ser1114=) c.3516C>A (p.Ser1172=) | |
7 | g.41965555G>A | CA367317863 | GLI3 | c.3518C>T (p.Ser1173Phe) c.3344C>T (p.Ser1115Phe) n.3495C>T c.3341C>T (p.Ser1114Phe) c.3515C>T (p.Ser1172Phe) | |
7 | g.41965555G>C | CA367317864 | GLI3 | c.3518C>G (p.Ser1173Cys) c.3344C>G (p.Ser1115Cys) n.3495C>G c.3341C>G (p.Ser1114Cys) c.3515C>G (p.Ser1172Cys) | |
7 | g.41965555G>T | CA367317865 | GLI3 | c.3518C>A (p.Ser1173Tyr) c.3344C>A (p.Ser1115Tyr) n.3495C>A c.3341C>A (p.Ser1114Tyr) c.3515C>A (p.Ser1172Tyr) | |
7 | g.41965556A= | CA1702660821 | GLI3 | c.3517T= (p.Ser1173=) c.3343T= (p.Ser1115=) n.3494T= c.3340T= (p.Ser1114=) c.3514T= (p.Ser1172=) | |
7 | g.41965556A>C | CA367317866 | GLI3 | c.3517T>G (p.Ser1173Ala) c.3343T>G (p.Ser1115Ala) n.3494T>G c.3340T>G (p.Ser1114Ala) c.3514T>G (p.Ser1172Ala) | |
7 | g.41965556A>G | CA367317867 | GLI3 | c.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 |
7 | g.41965556A>T | CA367317868 | GLI3 | c.3517T>A (p.Ser1173Thr) c.3343T>A (p.Ser1115Thr) n.3494T>A c.3340T>A (p.Ser1114Thr) c.3514T>A (p.Ser1172Thr) | |
7 | g.41965557C>A | CA454661914 | GLI3 | c.3516G>T (p.Leu1172=) c.3342G>T (p.Leu1114=) n.3493G>T c.3339G>T (p.Leu1113=) c.3513G>T (p.Leu1171=) | |
7 | g.41965557C>G | CA454661915 | GLI3 | c.3516G>C (p.Leu1172=) c.3342G>C (p.Leu1114=) n.3493G>C c.3339G>C (p.Leu1113=) c.3513G>C (p.Leu1171=) | |
7 | g.41965557C>T | CA454661916 | GLI3 | c.3516G>A (p.Leu1172=) c.3342G>A (p.Leu1114=) n.3493G>A c.3339G>A (p.Leu1113=) c.3513G>A (p.Leu1171=) | |
7 | g.41965558A>C | CA367317869 | GLI3 | c.3515T>G (p.Leu1172Arg) c.3341T>G (p.Leu1114Arg) n.3492T>G c.3338T>G (p.Leu1113Arg) c.3512T>G (p.Leu1171Arg) | |
7 | g.41965558A>G | CA367317871 | GLI3 | c.3515T>C (p.Leu1172Pro) c.3341T>C (p.Leu1114Pro) n.3492T>C c.3338T>C (p.Leu1113Pro) c.3512T>C (p.Leu1171Pro) | gnomAD v4 |
7 | g.41965558A>T | CA367317870 | GLI3 | c.3515T>A (p.Leu1172Gln) c.3341T>A (p.Leu1114Gln) n.3492T>A c.3338T>A (p.Leu1113Gln) c.3512T>A (p.Leu1171Gln) | gnomAD v4 |
7 | g.41965559G>A | CA4230344 | GLI3 | c.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 |
7 | g.41965559G>C | CA367317872 | GLI3 | c.3514C>G (p.Leu1172Val) c.3340C>G (p.Leu1114Val) n.3491C>G c.3337C>G (p.Leu1113Val) c.3511C>G (p.Leu1171Val) | gnomAD v4 |
7 | g.41965559G= | CA1702660822 | GLI3 | c.3514C= (p.Leu1172=) c.3340C= (p.Leu1114=) n.3491C= c.3337C= (p.Leu1113=) c.3511C= (p.Leu1171=) | |
7 | g.41965559G>T | CA367317873 | GLI3 | c.3514C>A (p.Leu1172Met) c.3340C>A (p.Leu1114Met) n.3491C>A c.3337C>A (p.Leu1113Met) c.3511C>A (p.Leu1171Met) | |
7 | g.41965560G>A | CA4230345 | GLI3 | c.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 |
7 | g.41965560G>C | CA367317874 | GLI3 | c.3513C>G (p.Asp1171Glu) c.3339C>G (p.Asp1113Glu) n.3490C>G c.3336C>G (p.Asp1112Glu) c.3510C>G (p.Asp1170Glu) | |
7 | g.41965560G= | CA1702660823 | GLI3 | c.3513C= (p.Asp1171=) c.3339C= (p.Asp1113=) n.3490C= c.3336C= (p.Asp1112=) c.3510C= (p.Asp1170=) | |
7 | g.41965560G>T | CA367317875 | GLI3 | c.3513C>A (p.Asp1171Glu) c.3339C>A (p.Asp1113Glu) n.3490C>A c.3336C>A (p.Asp1112Glu) c.3510C>A (p.Asp1170Glu) | gnomAD v4 |
7 | g.41965561T>A | CA367317876 | GLI3 | c.3512A>T (p.Asp1171Val) c.3338A>T (p.Asp1113Val) n.3489A>T c.3335A>T (p.Asp1112Val) c.3509A>T (p.Asp1170Val) | |
7 | g.41965561T>C | CA367317877 | GLI3 | c.3512A>G (p.Asp1171Gly) c.3338A>G (p.Asp1113Gly) n.3489A>G c.3335A>G (p.Asp1112Gly) c.3509A>G (p.Asp1170Gly) | |
7 | g.41965561T>G | CA367317878 | GLI3 | c.3512A>C (p.Asp1171Ala) c.3338A>C (p.Asp1113Ala) n.3489A>C c.3335A>C (p.Asp1112Ala) c.3509A>C (p.Asp1170Ala) | |
7 | g.41965562C>A | CA367317879 | GLI3 | c.3511G>T (p.Asp1171Tyr) c.3337G>T (p.Asp1113Tyr) n.3488G>T c.3334G>T (p.Asp1112Tyr) c.3508G>T (p.Asp1170Tyr) | |
7 | g.41965562C>G | CA367317880 | GLI3 | c.3511G>C (p.Asp1171His) c.3337G>C (p.Asp1113His) n.3488G>C c.3334G>C (p.Asp1112His) c.3508G>C (p.Asp1170His) | |
7 | g.41965562C>T | CA367317881 | GLI3 | c.3511G>A (p.Asp1171Asn) c.3337G>A (p.Asp1113Asn) n.3488G>A c.3334G>A (p.Asp1112Asn) c.3508G>A (p.Asp1170Asn) | gnomAD v4 |
7 | g.41965563G>A | CA4230346 | GLI3 | c.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 |
7 | g.41965563G>C | CA454661917 | GLI3 | c.3510C>G (p.Ala1170=) c.3336C>G (p.Ala1112=) n.3487C>G c.3333C>G (p.Ala1111=) c.3507C>G (p.Ala1169=) | |
7 | g.41965563G= | CA1702660824 | GLI3 | c.3510C= (p.Ala1170=) c.3336C= (p.Ala1112=) n.3487C= c.3333C= (p.Ala1111=) c.3507C= (p.Ala1169=) | |
7 | g.41965563G>T | CA4230347 | GLI3 | c.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 |
7 | g.41965564G>A | CA367317882 | GLI3 | c.3509C>T (p.Ala1170Val) c.3335C>T (p.Ala1112Val) n.3486C>T c.3332C>T (p.Ala1111Val) c.3506C>T (p.Ala1169Val) | gnomAD v4 |
7 | g.41965564G>C | CA4230348 | GLI3 | c.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 |
7 | g.41965564G= | CA1702660825 | GLI3 | c.3509C= (p.Ala1170=) c.3335C= (p.Ala1112=) n.3486C= c.3332C= (p.Ala1111=) c.3506C= (p.Ala1169=) | |
7 | g.41965564G>T | CA367317883 | GLI3 | c.3509C>A (p.Ala1170Asp) c.3335C>A (p.Ala1112Asp) n.3486C>A c.3332C>A (p.Ala1111Asp) c.3506C>A (p.Ala1169Asp) | gnomAD v4 |
7 | g.41965565C>A | CA4230350 | GLI3 | c.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 |
7 | g.41965565C= | CA1702660826 | GLI3 | c.3508G= (p.Ala1170=) c.3334G= (p.Ala1112=) n.3485G= c.3331G= (p.Ala1111=) c.3505G= (p.Ala1169=) | |
7 | g.41965565C>G | CA367317884 | GLI3 | c.3508G>C (p.Ala1170Pro) c.3334G>C (p.Ala1112Pro) n.3485G>C c.3331G>C (p.Ala1111Pro) c.3505G>C (p.Ala1169Pro) | |
7 | g.41965565C>T | CA4230349 | GLI3 | c.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 |
7 | g.41965566G>A | CA4230351 | GLI3 | c.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 |
7 | g.41965566G>C | CA367317886 | GLI3 | c.3507C>G (p.Ser1169Arg) c.3333C>G (p.Ser1111Arg) n.3484C>G c.3330C>G (p.Ser1110Arg) c.3504C>G (p.Ser1168Arg) | |
7 | g.41965566G= | CA1702660827 | GLI3 | c.3507C= (p.Ser1169=) c.3333C= (p.Ser1111=) n.3484C= c.3330C= (p.Ser1110=) c.3504C= (p.Ser1168=) | |
7 | g.41965566G>T | CA367317885 | GLI3 | c.3507C>A (p.Ser1169Arg) c.3333C>A (p.Ser1111Arg) n.3484C>A c.3330C>A (p.Ser1110Arg) c.3504C>A (p.Ser1168Arg) | gnomAD v4 |
7 | g.41965567C>A | CA367317887 | GLI3 | c.3506G>T (p.Ser1169Ile) c.3332G>T (p.Ser1111Ile) n.3483G>T c.3329G>T (p.Ser1110Ile) c.3503G>T (p.Ser1168Ile) | |
7 | g.41965567C>G | CA367317888 | GLI3 | c.3506G>C (p.Ser1169Thr) c.3332G>C (p.Ser1111Thr) n.3483G>C c.3329G>C (p.Ser1110Thr) c.3503G>C (p.Ser1168Thr) | |
7 | g.41965567C>T | CA367317889 | GLI3 | c.3506G>A (p.Ser1169Asn) c.3332G>A (p.Ser1111Asn) n.3483G>A c.3329G>A (p.Ser1110Asn) c.3503G>A (p.Ser1168Asn) | |
7 | g.41965568T>A | CA367317890 | GLI3 | c.3505A>T (p.Ser1169Cys) c.3331A>T (p.Ser1111Cys) n.3482A>T c.3328A>T (p.Ser1110Cys) c.3502A>T (p.Ser1168Cys) | |
7 | g.41965568T>C | CA367317891 | GLI3 | c.3505A>G (p.Ser1169Gly) c.3331A>G (p.Ser1111Gly) n.3482A>G c.3328A>G (p.Ser1110Gly) c.3502A>G (p.Ser1168Gly) | gnomAD v4 |
7 | g.41965568T>G | CA367317892 | GLI3 | c.3505A>C (p.Ser1169Arg) c.3331A>C (p.Ser1111Arg) n.3482A>C c.3328A>C (p.Ser1110Arg) c.3502A>C (p.Ser1168Arg) | |
7 | g.41965569T>A | CA454661920 | GLI3 | c.3504A>T (p.Gly1168=) c.3330A>T (p.Gly1110=) n.3481A>T c.3327A>T (p.Gly1109=) c.3501A>T (p.Gly1167=) | |
7 | g.41965569T>C | CA454661919 | GLI3 | c.3504A>G (p.Gly1168=) c.3330A>G (p.Gly1110=) n.3481A>G c.3327A>G (p.Gly1109=) c.3501A>G (p.Gly1167=) | |
7 | g.41965569T>G | CA454661918 | GLI3 | c.3504A>C (p.Gly1168=) c.3330A>C (p.Gly1110=) n.3481A>C c.3327A>C (p.Gly1109=) c.3501A>C (p.Gly1167=) | |
7 | g.41965570C>A | CA367317893 | GLI3 | c.3503G>T (p.Gly1168Val) c.3329G>T (p.Gly1110Val) n.3480G>T c.3326G>T (p.Gly1109Val) c.3500G>T (p.Gly1167Val) | |
7 | g.41965570C>G | CA367317895 | GLI3 | c.3503G>C (p.Gly1168Ala) c.3329G>C (p.Gly1110Ala) n.3480G>C c.3326G>C (p.Gly1109Ala) c.3500G>C (p.Gly1167Ala) | |
7 | g.41965570C>T | CA367317894 | GLI3 | c.3503G>A (p.Gly1168Glu) c.3329G>A (p.Gly1110Glu) n.3480G>A c.3326G>A (p.Gly1109Glu) c.3500G>A (p.Gly1167Glu) | |
7 | g.41965571del | CA2695207631 | GLI3 | c.3503del (p.Gly1168GlufsTer?) c.3329del (p.Gly1110GlufsTer?) n.3480del c.3326del (p.Gly1109GlufsTer?) c.3500del (p.Gly1167GlufsTer?) | |
7 | g.41965571C>A | CA367317896 | GLI3 | c.3502G>T (p.Gly1168Ter) c.3328G>T (p.Gly1110Ter) n.3479G>T c.3325G>T (p.Gly1109Ter) c.3499G>T (p.Gly1167Ter) | |
7 | g.41965571C= | CA1702660828 | GLI3 | c.3502G= (p.Gly1168=) c.3328G= (p.Gly1110=) n.3479G= c.3325G= (p.Gly1109=) c.3499G= (p.Gly1167=) | |
7 | g.41965571C>G | CA367317897 | GLI3 | c.3502G>C (p.Gly1168Arg) c.3328G>C (p.Gly1110Arg) n.3479G>C c.3325G>C (p.Gly1109Arg) c.3499G>C (p.Gly1167Arg) | gnomAD v4 |
7 | g.41965571C>T | CA367317898 | GLI3 | c.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 |
7 | g.41965572G>A | CA156903891 | GLI3 | c.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 |
7 | g.41965572G>C | CA454661921 | GLI3 | c.3501C>G (p.Ser1167=) c.3327C>G (p.Ser1109=) n.3478C>G c.3324C>G (p.Ser1108=) c.3498C>G (p.Ser1166=) | |
7 | g.41965572G= | CA1702660829 | GLI3 | c.3501C= (p.Ser1167=) c.3327C= (p.Ser1109=) n.3478C= c.3324C= (p.Ser1108=) c.3498C= (p.Ser1166=) | |
7 | g.41965572G>T | CA454661922 | GLI3 | c.3501C>A (p.Ser1167=) c.3327C>A (p.Ser1109=) n.3478C>A c.3324C>A (p.Ser1108=) c.3498C>A (p.Ser1166=) | |
7 | g.41965573_41965575dup | CA573857082 | GLI3 | c.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 |
7 | g.41965573G>A | CA367317899 | GLI3 | c.3500C>T (p.Ser1167Phe) c.3326C>T (p.Ser1109Phe) n.3477C>T c.3323C>T (p.Ser1108Phe) c.3497C>T (p.Ser1166Phe) | |
7 | g.41965573G>C | CA367317900 | GLI3 | c.3500C>G (p.Ser1167Cys) c.3326C>G (p.Ser1109Cys) n.3477C>G c.3323C>G (p.Ser1108Cys) c.3497C>G (p.Ser1166Cys) | |
7 | g.41965573G>T | CA367317901 | GLI3 | c.3500C>A (p.Ser1167Tyr) c.3326C>A (p.Ser1109Tyr) n.3477C>A c.3323C>A (p.Ser1108Tyr) c.3497C>A (p.Ser1166Tyr) | |
7 | g.41965574A>C | CA367317902 | GLI3 | c.3499T>G (p.Ser1167Ala) c.3325T>G (p.Ser1109Ala) n.3476T>G c.3322T>G (p.Ser1108Ala) c.3496T>G (p.Ser1166Ala) | |
7 | g.41965574A>G | CA367317903 | GLI3 | c.3499T>C (p.Ser1167Pro) c.3325T>C (p.Ser1109Pro) n.3476T>C c.3322T>C (p.Ser1108Pro) c.3496T>C (p.Ser1166Pro) | |
7 | g.41965574A>T | CA367317904 | GLI3 | c.3499T>A (p.Ser1167Thr) c.3325T>A (p.Ser1109Thr) n.3476T>A c.3322T>A (p.Ser1108Thr) c.3496T>A (p.Ser1166Thr) | |
7 | g.41965575G>A | CA454661923 | GLI3 | c.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 |
7 | g.41965575G>C | CA367317905 | GLI3 | c.3498C>G (p.Ser1166Arg) c.3324C>G (p.Ser1108Arg) n.3475C>G c.3321C>G (p.Ser1107Arg) c.3495C>G (p.Ser1165Arg) | gnomAD v4 |
7 | g.41965575G= | CA1702660830 | GLI3 | c.3498C= (p.Ser1166=) c.3324C= (p.Ser1108=) n.3475C= c.3321C= (p.Ser1107=) c.3495C= (p.Ser1165=) | |
7 | g.41965575G>T | CA367317906 | GLI3 | c.3498C>A (p.Ser1166Arg) c.3324C>A (p.Ser1108Arg) n.3475C>A c.3321C>A (p.Ser1107Arg) c.3495C>A (p.Ser1165Arg) | |
7 | g.41965576C>A | CA367317908 | GLI3 | c.3497G>T (p.Ser1166Ile) c.3323G>T (p.Ser1108Ile) n.3474G>T c.3320G>T (p.Ser1107Ile) c.3494G>T (p.Ser1165Ile) | |
7 | g.41965576C>G | CA367317909 | GLI3 | c.3497G>C (p.Ser1166Thr) c.3323G>C (p.Ser1108Thr) n.3474G>C c.3320G>C (p.Ser1107Thr) c.3494G>C (p.Ser1165Thr) | |
7 | g.41965576C>T | CA367317907 | GLI3 | c.3497G>A (p.Ser1166Asn) c.3323G>A (p.Ser1108Asn) n.3474G>A c.3320G>A (p.Ser1107Asn) c.3494G>A (p.Ser1165Asn) | |
7 | g.41965577del | CA2695207632 | GLI3 | c.3496del (p.Ser1166AlafsTer?) c.3322del (p.Ser1108AlafsTer?) n.3473del c.3319del (p.Ser1107AlafsTer?) c.3493del (p.Ser1165AlafsTer?) | |
7 | g.41965577T>A | CA367317911 | GLI3 | c.3496A>T (p.Ser1166Cys) c.3322A>T (p.Ser1108Cys) n.3473A>T c.3319A>T (p.Ser1107Cys) c.3493A>T (p.Ser1165Cys) | |
7 | g.41965577T>C | CA367317910 | GLI3 | c.3496A>G (p.Ser1166Gly) c.3322A>G (p.Ser1108Gly) n.3473A>G c.3319A>G (p.Ser1107Gly) c.3493A>G (p.Ser1165Gly) | |
7 | g.41965577T>G | CA367317912 | GLI3 | c.3496A>C (p.Ser1166Arg) c.3322A>C (p.Ser1108Arg) n.3473A>C c.3319A>C (p.Ser1107Arg) c.3493A>C (p.Ser1165Arg) | |
7 | g.41965578G>A | CA454661924 | GLI3 | c.3495C>T (p.Val1165=) c.3321C>T (p.Val1107=) n.3472C>T c.3318C>T (p.Val1106=) c.3492C>T (p.Val1164=) | |
7 | g.41965578G>C | CA4230352 | GLI3 | c.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 |
7 | g.41965578G= | CA1702660831 | GLI3 | c.3495C= (p.Val1165=) c.3321C= (p.Val1107=) n.3472C= c.3318C= (p.Val1106=) c.3492C= (p.Val1164=) | |
7 | g.41965578G>T | CA4230353 | GLI3 | c.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 |
7 | g.41965579A>C | CA367317913 | GLI3 | c.3494T>G (p.Val1165Gly) c.3320T>G (p.Val1107Gly) n.3471T>G c.3317T>G (p.Val1106Gly) c.3491T>G (p.Val1164Gly) | |
7 | g.41965579A>G | CA367317914 | GLI3 | c.3494T>C (p.Val1165Ala) c.3320T>C (p.Val1107Ala) n.3471T>C c.3317T>C (p.Val1106Ala) c.3491T>C (p.Val1164Ala) | gnomAD v4 |
7 | g.41965579A>T | CA367317915 | GLI3 | c.3494T>A (p.Val1165Asp) c.3320T>A (p.Val1107Asp) n.3471T>A c.3317T>A (p.Val1106Asp) c.3491T>A (p.Val1164Asp) | |
7 | g.41965580C>A | CA367317916 | GLI3 | c.3493G>T (p.Val1165Phe) c.3319G>T (p.Val1107Phe) n.3470G>T c.3316G>T (p.Val1106Phe) c.3490G>T (p.Val1164Phe) | gnomAD v4 |
7 | g.41965580C>G | CA367317917 | GLI3 | c.3493G>C (p.Val1165Leu) c.3319G>C (p.Val1107Leu) n.3470G>C c.3316G>C (p.Val1106Leu) c.3490G>C (p.Val1164Leu) | |
7 | g.41965580C>T | CA367317918 | GLI3 | c.3493G>A (p.Val1165Ile) c.3319G>A (p.Val1107Ile) n.3470G>A c.3316G>A (p.Val1106Ile) c.3490G>A (p.Val1164Ile) | |
7 | g.41965581T>A | CA367317919 | GLI3 | c.3492A>T (p.Glu1164Asp) c.3318A>T (p.Glu1106Asp) n.3469A>T c.3315A>T (p.Glu1105Asp) c.3489A>T (p.Glu1163Asp) | |
7 | g.41965581T>C | CA454661925 | GLI3 | c.3492A>G (p.Glu1164=) c.3318A>G (p.Glu1106=) n.3469A>G c.3315A>G (p.Glu1105=) c.3489A>G (p.Glu1163=) | |
7 | g.41965581T>G | CA367317920 | GLI3 | c.3492A>C (p.Glu1164Asp) c.3318A>C (p.Glu1106Asp) n.3469A>C c.3315A>C (p.Glu1105Asp) c.3489A>C (p.Glu1163Asp) | |
7 | g.41965582T>A | CA367317921 | GLI3 | c.3491A>T (p.Glu1164Val) c.3317A>T (p.Glu1106Val) n.3468A>T c.3314A>T (p.Glu1105Val) c.3488A>T (p.Glu1163Val) | |
7 | g.41965582T>C | CA367317922 | GLI3 | c.3491A>G (p.Glu1164Gly) c.3317A>G (p.Glu1106Gly) n.3468A>G c.3314A>G (p.Glu1105Gly) c.3488A>G (p.Glu1163Gly) | |
7 | g.41965582T>G | CA367317923 | GLI3 | c.3491A>C (p.Glu1164Ala) c.3317A>C (p.Glu1106Ala) n.3468A>C c.3314A>C (p.Glu1105Ala) c.3488A>C (p.Glu1163Ala) | |
7 | g.41965582_41965583delinsTC | CA1702660832 | GLI3 | c.3490_3491delinsGA (p.Glu1164=) c.3316_3317delinsGA (p.Glu1106=) n.3467_3468delinsGA c.3313_3314delinsGA (p.Glu1105=) c.3487_3488delinsGA (p.Glu1163=) | |
7 | g.41965583del | CA913189378 | GLI3 | c.3490del (p.Glu1164LysfsTer?) c.3316del (p.Glu1106LysfsTer?) n.3467del c.3313del (p.Glu1105LysfsTer?) c.3487del (p.Glu1163LysfsTer?) | ClinVar dbSNP |
7 | g.41965583C>A | CA367317926 | GLI3 | c.3490G>T (p.Glu1164Ter) c.3316G>T (p.Glu1106Ter) n.3467G>T c.3313G>T (p.Glu1105Ter) c.3487G>T (p.Glu1163Ter) | ClinVar |
7 | g.41965583C= | CA1702660833 | GLI3 | c.3490G= (p.Glu1164=) c.3316G= (p.Glu1106=) n.3467G= c.3313G= (p.Glu1105=) c.3487G= (p.Glu1163=) | |
7 | g.41965583C>G | CA367317925 | GLI3 | c.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 |
7 | g.41965583C>T | CA367317924 | GLI3 | c.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 |
7 | g.41965584G>A | CA4230354 | GLI3 | c.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 |
7 | g.41965584G>C | CA367317927 | GLI3 | c.3489C>G (p.Asn1163Lys) c.3315C>G (p.Asn1105Lys) n.3466C>G c.3312C>G (p.Asn1104Lys) c.3486C>G (p.Asn1162Lys) | dbSNP |
7 | g.41965584G= | CA1702660834 | GLI3 | c.3489C= (p.Asn1163=) c.3315C= (p.Asn1105=) n.3466C= c.3312C= (p.Asn1104=) c.3486C= (p.Asn1162=) | |
7 | g.41965584G>T | CA367317928 | GLI3 | c.3489C>A (p.Asn1163Lys) c.3315C>A (p.Asn1105Lys) n.3466C>A c.3312C>A (p.Asn1104Lys) c.3486C>A (p.Asn1162Lys) | |
7 | g.41965585T>A | CA367317929 | GLI3 | c.3488A>T (p.Asn1163Ile) c.3314A>T (p.Asn1105Ile) n.3465A>T c.3311A>T (p.Asn1104Ile) c.3485A>T (p.Asn1162Ile) | |
7 | g.41965585T>C | CA367317930 | GLI3 | c.3488A>G (p.Asn1163Ser) c.3314A>G (p.Asn1105Ser) n.3465A>G c.3311A>G (p.Asn1104Ser) c.3485A>G (p.Asn1162Ser) | |
7 | g.41965585T>G | CA367317931 | GLI3 | c.3488A>C (p.Asn1163Thr) c.3314A>C (p.Asn1105Thr) n.3465A>C c.3311A>C (p.Asn1104Thr) c.3485A>C (p.Asn1162Thr) | |
7 | g.41965586T>A | CA367317932 | GLI3 | c.3487A>T (p.Asn1163Tyr) c.3313A>T (p.Asn1105Tyr) n.3464A>T c.3310A>T (p.Asn1104Tyr) c.3484A>T (p.Asn1162Tyr) | |
7 | g.41965586T>C | CA367317933 | GLI3 | c.3487A>G (p.Asn1163Asp) c.3313A>G (p.Asn1105Asp) n.3464A>G c.3310A>G (p.Asn1104Asp) c.3484A>G (p.Asn1162Asp) | |
7 | g.41965586T>G | CA367317934 | GLI3 | c.3487A>C (p.Asn1163His) c.3313A>C (p.Asn1105His) n.3464A>C c.3310A>C (p.Asn1104His) c.3484A>C (p.Asn1162His) | |
7 | g.41965587C>A | CA367317935 | GLI3 | c.3486G>T (p.Trp1162Cys) c.3312G>T (p.Trp1104Cys) n.3463G>T c.3309G>T (p.Trp1103Cys) c.3483G>T (p.Trp1161Cys) | gnomAD v4 |
7 | g.41965587C>G | CA367317936 | GLI3 | c.3486G>C (p.Trp1162Cys) c.3312G>C (p.Trp1104Cys) n.3463G>C c.3309G>C (p.Trp1103Cys) c.3483G>C (p.Trp1161Cys) | |
7 | g.41965587C>T | CA367317937 | GLI3 | c.3486G>A (p.Trp1162Ter) c.3312G>A (p.Trp1104Ter) n.3463G>A c.3309G>A (p.Trp1103Ter) c.3483G>A (p.Trp1161Ter) | ClinVar dbSNP |
7 | g.41965588C>A | CA367317940 | GLI3 | c.3485G>T (p.Trp1162Leu) c.3311G>T (p.Trp1104Leu) n.3462G>T c.3308G>T (p.Trp1103Leu) c.3482G>T (p.Trp1161Leu) | |
7 | g.41965588C>G | CA367317939 | GLI3 | c.3485G>C (p.Trp1162Ser) c.3311G>C (p.Trp1104Ser) n.3462G>C c.3308G>C (p.Trp1103Ser) c.3482G>C (p.Trp1161Ser) | |
7 | g.41965588C>T | CA367317938 | GLI3 | c.3485G>A (p.Trp1162Ter) c.3311G>A (p.Trp1104Ter) n.3462G>A c.3308G>A (p.Trp1103Ter) c.3482G>A (p.Trp1161Ter) | |
7 | g.41965589A= | CA1702660835 | GLI3 | c.3484T= (p.Trp1162=) c.3310T= (p.Trp1104=) n.3461T= c.3307T= (p.Trp1103=) c.3481T= (p.Trp1161=) | |
7 | g.41965589A>C | CA367317941 | GLI3 | c.3484T>G (p.Trp1162Gly) c.3310T>G (p.Trp1104Gly) n.3461T>G c.3307T>G (p.Trp1103Gly) c.3481T>G (p.Trp1161Gly) | |
7 | g.41965589A>G | CA367317942 | GLI3 | c.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 |
7 | g.41965589A>T | CA367317943 | GLI3 | c.3484T>A (p.Trp1162Arg) c.3310T>A (p.Trp1104Arg) n.3461T>A c.3307T>A (p.Trp1103Arg) c.3481T>A (p.Trp1161Arg) | |
7 | g.41965589_41965594del | CA2682510064 | GLI3 | c.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 |
7 | g.41965590C>A | CA367317944 | GLI3 | c.3483G>T (p.Gln1161His) c.3309G>T (p.Gln1103His) n.3460G>T c.3306G>T (p.Gln1102His) c.3480G>T (p.Gln1160His) | |
7 | g.41965590C= | CA1702660836 | GLI3 | c.3483G= (p.Gln1161=) c.3309G= (p.Gln1103=) n.3460G= c.3306G= (p.Gln1102=) c.3480G= (p.Gln1160=) | |
7 | g.41965590C>G | CA367317945 | GLI3 | c.3483G>C (p.Gln1161His) c.3309G>C (p.Gln1103His) n.3460G>C c.3306G>C (p.Gln1102His) c.3480G>C (p.Gln1160His) | gnomAD v4 |
7 | g.41965590C>T | CA454661926 | GLI3 | c.3483G>A (p.Gln1161=) c.3309G>A (p.Gln1103=) n.3460G>A c.3306G>A (p.Gln1102=) c.3480G>A (p.Gln1160=) | dbSNP |
7 | g.41965591T>A | CA367317946 | GLI3 | c.3482A>T (p.Gln1161Leu) c.3308A>T (p.Gln1103Leu) n.3459A>T c.3305A>T (p.Gln1102Leu) c.3479A>T (p.Gln1160Leu) | |
7 | g.41965591T>C | CA367317947 | GLI3 | c.3482A>G (p.Gln1161Arg) c.3308A>G (p.Gln1103Arg) n.3459A>G c.3305A>G (p.Gln1102Arg) c.3479A>G (p.Gln1160Arg) | |
7 | g.41965591T>G | CA367317948 | GLI3 | c.3482A>C (p.Gln1161Pro) c.3308A>C (p.Gln1103Pro) n.3459A>C c.3305A>C (p.Gln1102Pro) c.3479A>C (p.Gln1160Pro) | |
7 | g.41965592G>A | CA342945 | GLI3 | c.3481C>T (p.Gln1161Ter) c.3307C>T (p.Gln1103Ter) n.3458C>T c.3304C>T (p.Gln1102Ter) c.3478C>T (p.Gln1160Ter) | ClinVar dbSNP |
7 | g.41965592G>C | CA367317949 | GLI3 | c.3481C>G (p.Gln1161Glu) c.3307C>G (p.Gln1103Glu) n.3458C>G c.3304C>G (p.Gln1102Glu) c.3478C>G (p.Gln1160Glu) | |
7 | g.41965592G= | CA1702660837 | GLI3 | c.3481C= (p.Gln1161=) c.3307C= (p.Gln1103=) n.3458C= c.3304C= (p.Gln1102=) c.3478C= (p.Gln1160=) | |
7 | g.41965592G>T | CA367317950 | GLI3 | c.3481C>A (p.Gln1161Lys) c.3307C>A (p.Gln1103Lys) n.3458C>A c.3304C>A (p.Gln1102Lys) c.3478C>A (p.Gln1160Lys) |