LRP8 LDL receptor related protein 8

Canonical transcript: NM_004631

89 unique variant annotations were identified in 93 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-53708850-G-T c.*3840C>A - 3-UTRSNV 19/19 - 1
1-53709447-T-A c.*3243A>T - 3-UTRSNV 19/19 - 1
1-53711735-G-A c.*955C>T - 3-UTRSNV 19/19 - 7
1-53711735-G-C c.*955C>G - 3-UTRSNV 19/19 - 7
1-53712727-C-T c.2855G>A p.Arg952Gln Missense 19/19 - 28
1-53713336-A-G c.2854-608T>C - IntronicSNV - 18/18 1
1-53714139-C-T c.2853+913G>A - IntronicSNV - 18/18 1
1-53716416-G-A c.2622C>T p.Asp874Asp Synonymous 17/19 - 9
1-53716416-G-T c.2622C>A p.Asp874Glu Missense 17/19 - 9
1-53716438-CT-CC c.2599delinsG p.Arg867Gly Missense 17/19 - 1
1-53716491-T-C c.2547A>G p.Arg849Arg Synonymous 17/19 - 1
1-53723222-C-T c.2210-86G>A - IntronicSNV - 14/18 2
1-53723495-A-G c.2210-359T>C - IntronicSNV - 14/18 3
1-53726180-TT-CT c.2012delinsG p.Asn671Ser Missense 13/19 - 1
1-53726234-C-G c.1958G>C p.Ser653Thr Missense 13/19 - 2
1-53727823-T-G c.1831A>C p.Ile611Leu Missense 12/19 - 1
1-53730071-T-C c.1428-3A>G - IntronicSNV - 9/18 1
1-53732138-C-A c.1427+7G>T - IntronicSNV - 9/18 1
1-53732138-C-T c.1427+7G>A - IntronicSNV - 9/18 1
1-53732174-C-G c.1398G>C p.Trp466Cys Missense 9/19 - 2
1-53732215-C-T c.1357G>A p.Val453Met Missense 9/19 - 1
1-53732286-C-T c.1286G>A p.Arg429Gln Missense 9/19 - 1
1-53732315-G-A c.1257C>T p.Gly419Gly Synonymous 9/19 - 1
1-53732315-G-C c.1257C>G p.Gly419Gly Synonymous 9/19 - 1
1-53732315-G-T c.1257C>A p.Gly419Gly Synonymous 9/19 - 6
1-53736136-G-A c.1252+564C>T - IntronicSNV - 8/18 1
1-53736750-CA-AC c.1201_1202delinsGT p.Cys401Val Missense 8/19 - 1
1-53737028-G-A c.1007-10C>T - IntronicSNV - 6/18 1
1-53737028-G-T c.1007-10C>A - IntronicSNV - 6/18 1
1-53738100-C-T c.1007-1082G>A - IntronicSNV - 6/18 1
1-53738183-A-G c.1007-1165T>C - IntronicSNV - 6/18 2
1-53742412-A-C c.835T>G p.Cys279Gly Missense 5/19 - 1
1-53742664-C-G c.583G>C p.Gly195Arg Missense 5/19 - 1
1-53742690-C-G c.557G>C p.Cys186Ser Missense 5/19 - 1
1-53742691-A-T c.556T>A p.Cys186Ser Missense 5/19 - 1
1-53746260-GG-TG c.495delinsA p.Thr165Thr Missense 4/19 - 1
1-53746346-T-G c.409A>C p.Thr137Pro Missense 4/19 - 1
1-53748286-G-A c.368-1899C>T - IntronicSNV - 3/18 6
1-53751610-C-T c.367+3629G>A - IntronicSNV - 3/18 1
1-53752134-A-G c.367+3105T>C - IntronicSNV - 3/18 1
1-53754104-G-C c.367+1135C>G - IntronicSNV - 3/18 1
1-53754104-G-T c.367+1135C>A - IntronicSNV - 3/18 1
1-53755332-T-C c.274A>G p.Thr92Ala Missense 3/19 - 1
1-53755679-A-C c.245-318T>G - IntronicSNV - 2/18 1
1-53755911-G-C c.245-550C>G - IntronicSNV - 2/18 1
1-53755911-G-T c.245-550C>A - IntronicSNV - 2/18 1
1-53756870-C-G c.245-1509G>C - IntronicSNV - 2/18 1
1-53756870-C-T c.245-1509G>A - IntronicSNV - 2/18 1
1-53757154-C-A c.245-1793G>T - IntronicSNV - 2/18 1
1-53757257-C-T c.245-1896G>A - IntronicSNV - 2/18 1
1-53762189-G-A c.245-6828C>T - IntronicSNV - 2/18 1
1-53762226-C-A c.245-6865G>T - IntronicSNV - 2/18 1
1-53762226-C-T c.245-6865G>A - IntronicSNV - 2/18 1
1-53763537-C-T c.245-8176G>A - IntronicSNV - 2/18 1
1-53763851-G-A c.245-8490C>T - IntronicSNV - 2/18 1
1-53765434-G-A c.245-10073C>T - IntronicSNV - 2/18 1
1-53766972-A-G c.245-11611T>C - IntronicSNV - 2/18 1
1-53771202-A-G c.245-15841T>C - IntronicSNV - 2/18 1
1-53771202-A-T c.245-15841T>A - IntronicSNV - 2/18 1
1-53772544-C-A c.245-17183G>T - IntronicSNV - 2/18 2
1-53772544-C-G c.245-17183G>C - IntronicSNV - 2/18 2
1-53774534-T-A c.244+18011A>T - IntronicSNV - 2/18 1
1-53774534-T-G c.244+18011A>C - IntronicSNV - 2/18 1
1-53776616-C-T c.244+15929G>A - IntronicSNV - 2/18 3
1-53777543-T-C c.244+15002A>G - IntronicSNV - 2/18 1
1-53777631-A-C c.244+14914T>G - IntronicSNV - 2/18 1
1-53777739-C-T c.244+14806G>A - IntronicSNV - 2/18 1
1-53784098-A-G c.244+8447T>C - IntronicSNV - 2/18 3
1-53786149-T-A c.244+6396A>T - IntronicSNV - 2/18 2
1-53786149-T-G c.244+6396A>C - IntronicSNV - 2/18 2
1-53787360-C-A c.244+5185G>T - IntronicSNV - 2/18 2
1-53787360-C-T c.244+5185G>A - IntronicSNV - 2/18 2
1-53787633-G-A c.244+4912C>T - IntronicSNV - 2/18 1
1-53787633-G-C c.244+4912C>G - IntronicSNV - 2/18 1
1-53787673-C-T c.244+4872G>A - IntronicSNV - 2/18 1
1-53788874-G-A c.244+3671C>T - IntronicSNV - 2/18 1
1-53792598-CA-GC c.190_191delinsGC p.Trp64Ala Missense 2/19 - 1
1-53792599-A-G c.190T>C p.Trp64Arg Missense 2/19 - 1
1-53792599-A-T c.190T>A p.Trp64Arg Missense 2/19 - 1
1-53792617-G-A c.172C>T p.Arg58Cys Missense 2/19 - 1
1-53792640-TC-AG c.148_149delinsCT p.Asp50Leu Missense 2/19 - 1
1-53792651-A-C c.138T>G p.Asp46Glu Missense 2/19 - 13
1-53793487-CGCTGCCGCCGCAAGATGCTGGAGCTGCAGC-C c.70_99del p.Leu24_Ala33del InFrameDeletion 1/19 - 1
1-53793496-G-C c.89C>G p.Ala30Gly Missense 1/19 - 1
1-53793509-AGC-A c.75_76del p.Gln25Hisfs*10 Frameshift 1/19 - 1
1-53793511-T-A c.74A>T p.Gln25Leu Missense 1/19 - 2
1-53793511-T-C c.74A>G p.Gln25Arg Missense 1/19 - 1
1-53793511-T-G c.74A>C p.Gln25Pro Missense 1/19 - 1
1-53793514-CA-C c.71del p.Leu24Argfs*50 Frameshift 1/19 - 1