LDLRAP1 low density lipoprotein receptor adaptor protein 1

Annotation transcript: NM_015627.3

103 unique variant annotations were identified in 101 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-25870219-G-A c.30G>A p.A10= Synonymous 1/9 - 2
1-25870219-G-C c.30G>C p.A10= Synonymous 1/9 - 2
1-25870219-G-T c.30G>T p.A10= Synonymous 1/9 - 2
1-25870229-AG-GC c.40_41delinsGC p.S14A Missense 1/9 - 1
1-25870254-G-A c.65G>A p.W22* Nonsense 1/9 - 5
1-25870254-G-C c.65G>C p.W22S Missense 1/9 - 2
1-25870255-G-A c.66G>A p.W22* Nonsense 1/9 - 4
1-25870308-C-A c.88+31C>A - IntronicSNV - 1/8 1
1-25880448-CT-GC c.124_125delinsGC p.L42A Missense 2/9 - 1
1-25880467-T-C c.143T>C p.F48S Missense 2/9 - 2
1-25880470-G-A c.146G>A p.S49N Missense 2/9 - 1
1-25880476-A-T c.152A>T p.K51M Missense 2/9 - 1
1-25880491-C-T c.167C>T p.T56M Missense 2/9 - 2
1-25880492-G-A c.168G>A p.T56= Synonymous 2/9 - 1
1-25880492-G-C c.168G>C p.T56= Synonymous 2/9 - 1
1-25880492-G-T c.168G>T p.T56= Synonymous 2/9 - 1
1-25880516-G-C c.192G>C p.E64D Missense 2/9 - 3
1-25880516-G-T c.192G>T p.E64D Missense 2/9 - 3
1-25880530-CC-AG c.206_207delinsAG p.A69E Missense 2/9 - 1
1-25881393-G-A c.274G>A p.V92M Missense 3/9 - 2
1-25881405-GGA-AGC c.286_288delinsAGC p.G96S Missense 3/9 - 1
1-25881424-A-G c.305A>G p.N102S Missense 3/9 - 1
1-25881459-TA-GC c.340_341delinsGC p.Y114A Missense 3/9 - 1
1-25883642-A-T c.345-2A>T - IntronicSNV - 3/8 1
1-25883649-C-A c.350C>A p.S117Y Missense 4/9 - 1
1-25883649-C-T c.350C>T p.S117F Missense 4/9 - 1
1-25883672-C-T c.373C>T p.H125Y Missense 4/9 - 1
1-25883680-GG-T c.381_382delinsT p.K127Nfs*35 Frameshift 4/9 - 1
1-25883682-T-G c.383T>G p.V128G Missense 4/9 - 1
1-25883687-G-C c.388G>C p.A130P Missense 4/9 - 1
1-25883696-G-A c.397G>A p.A133T Missense 4/9 - 1
1-25883699-C-T c.400C>T p.Q134* Nonsense 4/9 - 1
1-25883705-C-T c.406C>T p.Q136* Nonsense 4/9 - 4
1-25883712-A-G c.413A>G p.N138S Missense 4/9 - 1
1-25883720-C-A c.421C>A p.L141I Missense 4/9 - 1
1-25883720-C-G c.421C>G p.L141V Missense 4/9 - 1
1-25883720-C-T c.421C>T p.L141F Missense 4/9 - 5
1-25883720-CTC-ATG c.421_423delinsATG p.L141M Missense 4/9 - 1
1-25883731-C-CA c.432_433insA p.A145Sfs*26 Frameshift 4/9 - 1
1-25883747-A-G c.448A>G p.K150E Missense 4/9 - 1
1-25883750-CGG-TGT c.451_453delinsTGT p.R151C Missense 4/9 - 1
1-25883751-G-A c.452G>A p.R151Q Missense 4/9 - 1
1-25889156-G-A c.481G>A p.V161I Missense 5/9 - 1
1-25889165-G-T c.490G>T p.A164S Missense 5/9 - 1
1-25889168-TT-GC c.493_494delinsGC p.F165A Missense 5/9 - 1
1-25889196-T-C c.521T>C p.V174A Missense 5/9 - 2
1-25889206-A-C c.531A>C p.E177D Missense 5/9 - 1
1-25889342-CAG-C c.532+138_532+139del - IntronicDeletion - 5/8 1
1-25889422-C-A c.533-139C>A - IntronicSNV - 5/8 2
1-25889422-C-T c.533-139C>T - IntronicSNV - 5/8 2
1-25889539-A-G c.533-22A>G - IntronicSNV - 5/8 1
1-25889615-G-A c.587G>A p.R196H Missense 6/9 - 1
1-25889623-TG-GC c.595_596delinsGC p.C199A Missense 6/9 - 1
1-25889626-A-ACC c.602_603dup p.S202Pfs*3 Frameshift 6/9 - 1
1-25889630-C-G c.602C>G p.P201R Missense 6/9 - 1
1-25889626-A-AC c.603dup p.S202Lfs*19 Frameshift 6/9 - 1
1-25889632-CT-C c.604del p.S202Pfs*2 Frameshift 6/9 - 1
1-25889632-T-A c.604T>A p.S202T Missense 6/9 - 5
1-25889632-T-C c.604T>C p.S202P Missense 6/9 - 9
1-25889632-TC-A c.604_605delinsA p.S202Tfs*2 Frameshift 6/9 - 1
1-25889632-TC-CA c.604_605delinsCA p.S202H Missense 6/9 - 1
1-25889632-T-G c.604T>G p.S202A Missense 6/9 - 5
1-25889633-C-A c.605C>A p.S202Y Missense 6/9 - 3
1-25889633-C-G c.605C>G p.S202C Missense 6/9 - 2
1-25889633-C-T c.605C>T p.S202F Missense 6/9 - 1
1-25889641-AGC-TGA c.613_615delinsTGA p.S205* Nonsense 6/9 - 1
1-25889642-G-A c.614G>A p.S205N Missense 6/9 - 1
1-25889672-G-A c.616+28G>A - IntronicSNV - 6/8 1
1-25890050-A-G c.617-102A>G - IntronicSNV - 6/8 1
1-25890139-G-A c.617-13G>A - IntronicSNV - 6/8 1
1-25890149-C-G c.617-3C>G - IntronicSNV - 6/8 1
1-25890150-A-G c.617-2A>G - IntronicSNV - 6/8 1
1-25890157-G-C c.622G>C p.A208P Missense 7/9 - 1
1-25890173-CT-C c.638del p.L213Rfs*3 Frameshift 7/9 - 1
1-25890184-G-T c.649G>T p.E217* Nonsense 7/9 - 1
1-25890189-A-G c.654A>G p.T218= Synonymous 7/9 - 1
1-25890189-A-T c.654A>G p.T218= Synonymous 7/9 - 1
1-25890215-G-A c.680G>A p.S227N Missense 7/9 - 1
1-25890217-G-T c.682G>T p.A228S Missense 7/9 - 1
1-25890247-C-T c.712C>T p.R238W Missense 7/9 - 2
1-25890256-G-A c.721G>A p.A241T Missense 7/9 - 1
1-25890274-G-C c.739G>C p.V247L Missense 7/9 - 1
1-25890277-G-A c.742G>A p.V248I Missense 7/9 - 1
1-25890835-G-A c.747+553G>A - IntronicSNV - 7/8 1
1-25891174-G-A c.748-490G>A - IntronicSNV - 7/8 1
1-25891662-A-AG c.748dup p.E250Gfs*4 SpliceAcceptorInsertion 8/9 - 1
1-25891691-TT-GC c.775_776delinsGC p.F259A Missense 8/9 - 2
1-25891959-G-A c.782+261G>A - IntronicSNV - 8/8 1
1-25892880-T-A c.783-459T>A - IntronicSNV - 8/8 1
1-25892880-T-G c.783-459T>G - IntronicSNV - 8/8 1
1-25893242-T-C c.783-97T>C - IntronicSNV - 8/8 2
1-25893340-C-T c.784C>T p.L262F Missense 9/9 - 1
1-25893340-CT-TA c.784_785delinsTA p.L262Y Missense 9/9 - 1
1-25893340-CTT-GAG c.784_786delinsGAG p.L262E Missense 9/9 - 1
1-25893352-CG-GC c.796_797delinsGC p.R266A Missense 9/9 - 2
1-25893367-G-A c.811G>A p.V271I Missense 9/9 - 1
1-25893394-G-T c.838G>T p.D280Y Missense 9/9 - 1
1-25893412-TG-GC c.856_857delinsGC p.C286A Missense 9/9 - 1
1-25893463-G-A c.907G>A p.D303N Missense 9/9 - 1
1-25893468-C-G c.912C>G p.D304E Missense 9/9 - 1
1-25893471-C-G c.915C>G p.L305= Synonymous 9/9 - 1
1-25894653-T-G c.*1170T>G - 3-UTRSNV 9/9 - 1
1-25894853-G-T c.*1370G>T - 3-UTRSNV 9/9 - 2