Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.117835455_117835462del | CA2695210028 | EXT1 | n.615_622del c.1148_1155del (p.Glu383ValfsTer15) c.516_523del c.*39_*46del (n.*39_*46del) | |
8 | g.117835460_117835461del | CA1813956681 | EXT1 | n.618_619del c.1151_1152del (p.Arg384IlefsTer16) c.519_520del c.*42_*43del (n.*42_*43del) | ClinVar dbSNP |
8 | g.117835461C>A | CA16605944 | EXT1 | n.614G>T c.1147G>T (p.Glu383Ter) c.515G>T c.*38G>T (n.*38G>T) | ClinVar dbSNP |
8 | g.117835461C= | CA1813956684 | EXT1 | n.614G= c.1147G= (p.Glu383=) c.515G= c.*38G= (n.*38G=) | |
8 | g.117835461C>G | CA371891912 | EXT1 | n.614G>C c.1147G>C (p.Glu383Gln) c.515G>C c.*38G>C (n.*38G>C) | |
8 | g.117835461C>T | CA371891914 | EXT1 | n.614G>A c.1147G>A (p.Glu383Lys) c.515G>A c.*38G>A (n.*38G>A) | dbSNP |
8 | g.117835462A>C | CA371891915 | EXT1 | n.613T>G c.1146T>G (p.Asp382Glu) c.514T>G c.*37T>G (n.*37T>G) | |
8 | g.117835462A>G | CA462468807 | EXT1 | n.613T>C c.1146T>C (p.Asp382=) c.514T>C c.*37T>C (n.*37T>C) | |
8 | g.117835462A>T | CA371891916 | EXT1 | n.613T>A c.1146T>A (p.Asp382Glu) c.514T>A c.*37T>A (n.*37T>A) | |
8 | g.117835463T>A | CA371891918 | EXT1 | n.612A>T c.1145A>T (p.Asp382Val) c.513A>T c.*36A>T (n.*36A>T) | |
8 | g.117835463T>C | CA371891919 | EXT1 | n.612A>G c.1145A>G (p.Asp382Gly) c.513A>G c.*36A>G (n.*36A>G) | |
8 | g.117835463T>G | CA371891921 | EXT1 | n.612A>C c.1145A>C (p.Asp382Ala) c.513A>C c.*36A>C (n.*36A>C) | |
8 | g.117835464C>A | CA371891936 | EXT1 | n.611G>T c.1144G>T (p.Asp382Tyr) c.512G>T c.*35G>T (n.*35G>T) | |
8 | g.117835464C= | CA1813956685 | EXT1 | n.611G= c.1144G= (p.Asp382=) c.512G= c.*35G= (n.*35G=) | |
8 | g.117835464C>G | CA371891938 | EXT1 | n.611G>C c.1144G>C (p.Asp382His) c.512G>C c.*35G>C (n.*35G>C) | |
8 | g.117835464C>T | CA184296527 | EXT1 | n.611G>A c.1144G>A (p.Asp382Asn) c.512G>A c.*35G>A (n.*35G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835465G>A | CA4854231 | EXT1 | n.610C>T c.1143C>T (p.Gly381=) c.511C>T c.*34C>T (n.*34C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835465G>C | CA462468808 | EXT1 | n.610C>G c.1143C>G (p.Gly381=) c.511C>G c.*34C>G (n.*34C>G) | |
8 | g.117835465G= | CA1813956686 | EXT1 | n.610C= c.1143C= (p.Gly381=) c.511C= c.*34C= (n.*34C=) | |
8 | g.117835465G>T | CA462468809 | EXT1 | n.610C>A c.1143C>A (p.Gly381=) c.511C>A c.*34C>A (n.*34C>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.117835466C>A | CA371891951 | EXT1 | n.609G>T c.1142G>T (p.Gly381Val) c.510G>T c.*33G>T (n.*33G>T) | |
8 | g.117835466C>G | CA371891952 | EXT1 | n.609G>C c.1142G>C (p.Gly381Ala) c.510G>C c.*33G>C (n.*33G>C) | |
8 | g.117835466C>T | CA371891955 | EXT1 | n.609G>A c.1142G>A (p.Gly381Asp) c.510G>A c.*33G>A (n.*33G>A) | |
8 | g.117835467C>A | CA371891959 | EXT1 | n.608G>T c.1141G>T (p.Gly381Cys) c.509G>T c.*32G>T (n.*32G>T) | |
8 | g.117835467C>G | CA371891971 | EXT1 | n.608G>C c.1141G>C (p.Gly381Arg) c.509G>C c.*32G>C (n.*32G>C) | |
8 | g.117835467C>T | CA371891974 | EXT1 | n.608G>A c.1141G>A (p.Gly381Ser) c.509G>A c.*32G>A (n.*32G>A) | |
8 | g.117835468T>A | CA462468810 | EXT1 | n.607A>T c.1140A>T (p.Ile380=) c.508A>T c.*31A>T (n.*31A>T) | |
8 | g.117835468T>C | CA371891978 | EXT1 | n.607A>G c.1140A>G (p.Ile380Met) c.508A>G c.*31A>G (n.*31A>G) | |
8 | g.117835468T>G | CA462468811 | EXT1 | n.607A>C c.1140A>C (p.Ile380=) c.508A>C c.*31A>C (n.*31A>C) | |
8 | g.117835469A>C | CA371891994 | EXT1 | n.606T>G c.1139T>G (p.Ile380Arg) c.507T>G c.*30T>G (n.*30T>G) | |
8 | g.117835469A>G | CA371892004 | EXT1 | n.606T>C c.1139T>C (p.Ile380Thr) c.507T>C c.*30T>C (n.*30T>C) | |
8 | g.117835469A>T | CA371892011 | EXT1 | n.606T>A c.1139T>A (p.Ile380Lys) c.507T>A c.*30T>A (n.*30T>A) | |
8 | g.117835470T>A | CA243103 | EXT1 | n.605A>T c.1138A>T (p.Ile380Leu) c.506A>T c.*29A>T (n.*29A>T) | ClinVar dbSNP gnomAD v4 |
8 | g.117835470T>C | CA4854232 | EXT1 | n.605A>G c.1138A>G (p.Ile380Val) c.506A>G c.*29A>G (n.*29A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835470T>G | CA371892016 | EXT1 | n.605A>C c.1138A>C (p.Ile380Leu) c.506A>C c.*29A>C (n.*29A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835470T= | CA1813956687 | EXT1 | n.605A= c.1138A= (p.Ile380=) c.506A= c.*29A= (n.*29A=) | |
8 | g.117835471G>A | CA184296557 | EXT1 | n.604C>T c.1137C>T (p.Val379=) c.505C>T c.*28C>T (n.*28C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.117835471G>C | CA462468812 | EXT1 | n.604C>G c.1137C>G (p.Val379=) c.505C>G c.*28C>G (n.*28C>G) | |
8 | g.117835471G= | CA1813956688 | EXT1 | n.604C= c.1137C= (p.Val379=) c.505C= c.*28C= (n.*28C=) | |
8 | g.117835471G>T | CA462468813 | EXT1 | n.604C>A c.1137C>A (p.Val379=) c.505C>A c.*28C>A (n.*28C>A) | |
8 | g.117835472A>C | CA371892023 | EXT1 | n.603T>G c.1136T>G (p.Val379Gly) c.504T>G c.*27T>G (n.*27T>G) | |
8 | g.117835472A>G | CA371892026 | EXT1 | n.603T>C c.1136T>C (p.Val379Ala) c.504T>C c.*27T>C (n.*27T>C) | |
8 | g.117835472A>T | CA371892020 | EXT1 | n.603T>A c.1136T>A (p.Val379Asp) c.504T>A c.*27T>A (n.*27T>A) | |
8 | g.117835473C>A | CA4854233 | EXT1 | n.602G>T c.1135G>T (p.Val379Phe) c.503G>T c.*26G>T (n.*26G>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
8 | g.117835473C= | CA1813956689 | EXT1 | n.602G= c.1135G= (p.Val379=) c.503G= c.*26G= (n.*26G=) | |
8 | g.117835473C>G | CA371892034 | EXT1 | n.602G>C c.1135G>C (p.Val379Leu) c.503G>C c.*26G>C (n.*26G>C) | dbSNP |
8 | g.117835473C>T | CA159095 | EXT1 | n.602G>A c.1135G>A (p.Val379Ile) c.503G>A c.*26G>A (n.*26G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835474G>A | CA462468814 | EXT1 | n.601C>T c.1134C>T (p.Ala378=) c.502C>T c.*25C>T (n.*25C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.117835474G>C | CA462468815 | EXT1 | n.601C>G c.1134C>G (p.Ala378=) c.502C>G c.*25C>G (n.*25C>G) | |
8 | g.117835474G= | CA1813956690 | EXT1 | n.601C= c.1134C= (p.Ala378=) c.502C= c.*25C= (n.*25C=) |