PRELP

PRELP proline and arginine rich end leucine rich repeat protein

Annotation transcript: NM_002725.4

492 unique variant annotations were identified in 234 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
1-203445012-G-A c.-71G>A - 5_prime_UTR_variant 1/3 - 1
1-203445012-G-C c.-71G>C - 5_prime_UTR_variant 1/3 - 1
1-203445012-G-T c.-71G>T - 5_prime_UTR_variant 1/3 - 1
1-203450140-A-AGCCCC c.-16-2157_-16-2156insGCCCC - IntronicInsertion - 1/2 1
1-203452226-T-C c.-16-71T>C - IntronicSNV - 1/2 8
1-203452317-G-A c.5G>A p.R2K Missense 2/3 - 4
1-203452325-C-A c.13C>A p.L5I Missense 2/3 - 2
1-203452333-G-C c.21G>C p.W7C Missense 2/3 - 1
1-203452333-G-T c.21G>T p.W7C Missense 2/3 - 1
1-203452337-C-A c.25C>A p.L9I Missense 2/3 - 1
1-203452337-C-G c.25C>G p.L9V Missense 2/3 - 1
1-203452351-C-A c.39C>A p.I13= Synonymous 2/3 - 1
1-203452351-C-T c.39C>T p.I13= Synonymous 2/3 - 1
1-203452352-T-G c.40T>G p.L14V Missense 2/3 - 2
1-203452356-CC-AG c.44_45delinsAG p.A15E Missense 2/3 - 1
1-203452357-C-A c.45C>A p.A15= Synonymous 2/3 - 2
1-203452357-C-G c.45C>G p.A15= Synonymous 2/3 - 2
1-203452357-C-T c.45C>T p.A15= Synonymous 2/3 - 2
1-203452360-A-C c.48A>C p.S16= Synonymous 2/3 - 1
1-203452360-A-G c.48A>G p.S16= Synonymous 2/3 - 1
1-203452360-A-T c.48A>T p.S16= Synonymous 2/3 - 1
1-203452363-G-A c.51G>A p.V17= Synonymous 2/3 - 1
1-203452364-G-A c.52G>A p.A18T Missense 2/3 - 1
1-203452366-C-T c.54C>T p.A18= Synonymous 2/3 - 2
1-203452370-G-T c.58G>T p.G20C Missense 2/3 - 1
1-203452373-C-T c.61C>T p.Q21* Nonsense 2/3 - 1
1-203452374-A-C c.62A>C p.Q21P Missense 2/3 - 1
1-203452382-AG-CA c.70_71delinsCA p.R24Q Missense 2/3 - 1
1-203452383-G-C c.71G>C p.R24T Missense 2/3 - 2
1-203452385-C-T c.73C>T p.R25* Nonsense 2/3 - 3
1-203452386-G-A c.74G>A p.R25Q Missense 2/3 - 1
1-203452388-C-T c.76C>T p.P26S Missense 2/3 - 1
1-203452389-C-A c.77C>A p.P26Q Missense 2/3 - 4
1-203452395-C-A c.83C>A p.P28H Missense 2/3 - 4
1-203452395-C-T c.83C>T p.P28L Missense 2/3 - 3
1-203452396-C-A c.84C>A p.P28= Synonymous 2/3 - 2
1-203452396-C-G c.84C>G p.P28= Synonymous 2/3 - 2
1-203452396-C-T c.84C>T p.P28= Synonymous 2/3 - 3
1-203452397-G-A c.85G>A p.G29R Missense 2/3 - 1
1-203452397-G-C c.85G>C p.G29R Missense 2/3 - 1
1-203452398-G-A c.86G>A p.G29E Missense 2/3 - 1
1-203452400-A-C c.88A>C p.T30P Missense 2/3 - 1
1-203452401-C-T c.89C>T p.T30I Missense 2/3 - 1
1-203452402-T-C c.90T>C p.T30= Synonymous 2/3 - 1
1-203452405-G-A c.93G>A p.G31= Synonymous 2/3 - 1
1-203452405-G-C c.93G>C p.G31= Synonymous 2/3 - 1
1-203452405-G-T c.93G>T p.G31= Synonymous 2/3 - 1
1-203452408-C-A c.96C>A p.P32= Synonymous 2/3 - 2
1-203452408-C-T c.96C>T p.P32= Synonymous 2/3 - 3
1-203452409-G-A c.97G>A p.G33R Missense 2/3 - 10
1-203452409-G-C c.97G>C p.G33R Missense 2/3 - 10
1-203452409-G-T c.97G>T p.G33W Missense 2/3 - 2
1-203452410-G-GGTCT c.99_100insTCTG p.R34Sfs*18 Frameshift 2/3 - 1
1-203452412-C-A c.100C>A p.R34S Missense 2/3 - 1
1-203452413-G-A c.101G>A p.R34H Missense 2/3 - 5
1-203452413-G-T c.101G>T p.R34L Missense 2/3 - 1
1-203452413-GCAGA-G c.103_106del p.R35Pfs*106 Frameshift 2/3 - 1
1-203452417-A-AACCAGG c.105_106insACCAGG p.R35_P36insTR InFrameInsertion 2/3 - 1
1-203452417-A-C c.105A>C p.R35S Missense 2/3 - 2
1-203452417-A-T c.105A>T p.R35S Missense 2/3 - 2
1-203452418-C-A c.106C>A p.P36T Missense 2/3 - 1
1-203452420-C-G c.108C>G p.P36= Synonymous 2/3 - 1
1-203452421-A-G c.109A>G p.R37G Missense 2/3 - 1
1-203452423-G-C c.111G>C p.R37S Missense 2/3 - 1
1-203452423-G-T c.111G>T p.R37S Missense 2/3 - 3
1-203452427-A-C c.115A>C p.R39= Synonymous 2/3 - 1
1-203452429-G-A c.117G>A p.R39= Synonymous 2/3 - 1
1-203452429-G-T c.117G>T p.R39S Missense 2/3 - 1
1-203452417-ACCCAGG-A c.122_127del p.R41_P42del InFrameDeletion 2/3 - 1
1-203452432-C-CAGCCCT c.122_123insCCCTAG p.P40_R41insSP InFrameInsertion 2/3 - 1
1-203452433-A-C c.121A>C p.R41= Synonymous 2/3 - 1
1-203452435-G-A c.123G>A p.R41= Synonymous 2/3 - 1
1-203452437-C-A c.125C>A p.P42H Missense 2/3 - 1
1-203452438-C-A c.126C>A p.P42= Synonymous 2/3 - 1
1-203452438-C-G c.126C>G p.P42= Synonymous 2/3 - 1
1-203452438-C-T c.126C>T p.P42= Synonymous 2/3 - 1
1-203452439-A-C c.127A>C p.T43P Missense 2/3 - 1
1-203452441-A-C c.129A>C p.T43= Synonymous 2/3 - 1
1-203452441-A-G c.129A>G p.T43= Synonymous 2/3 - 1
1-203452441-A-T c.129A>T p.T43= Synonymous 2/3 - 1
1-203452444-C-A c.132C>A p.P44= Synonymous 2/3 - 1
1-203452444-C-G c.132C>G p.P44= Synonymous 2/3 - 1
1-203452444-C-T c.132C>T p.P44= Synonymous 2/3 - 1
1-203452452-C-T c.140C>T p.P47L Missense 2/3 - 2
1-203452463-G-A c.151G>A p.E51K Missense 2/3 - 1
1-203452469-GC-AT c.157_158delinsAT p.A53I Missense 2/3 - 2
1-203452470-C-T c.158C>T p.A53V Missense 2/3 - 2
1-203452475-C-T c.163C>T p.P55S Missense 2/3 - 4
1-203452482-A-T c.170A>T p.D57V Missense 2/3 - 1
1-203452484-C-A c.172C>A p.L58M Missense 2/3 - 1
1-203452487-CC-GG c.175_176inv p.P59G Missense 2/3 - 1
1-203452487-C-G c.175C>G p.P59A Missense 2/3 - 1
1-203452489-T-A c.177T>A p.P59= Synonymous 2/3 - 1
1-203452489-T-C c.177T>C p.P59= Synonymous 2/3 - 1
1-203452489-T-G c.177T>G p.P59= Synonymous 2/3 - 1
1-203452490-C-G c.178C>G p.P60A Missense 2/3 - 1
1-203452493-C-T c.181C>T p.P61S Missense 2/3 - 1
1-203452495-C-T c.183C>T p.P61= Synonymous 2/3 - 1
1-203452496-CT-AG c.184_185inv p.L62S Missense 2/3 - 1
1-203452498-C-A c.186C>A p.L62= Synonymous 2/3 - 1
1-203452498-C-G c.186C>G p.L62= Synonymous 2/3 - 1
1-203452498-C-T c.186C>T p.L62= Synonymous 2/3 - 4
1-203452509-C-A c.197C>A p.P66H Missense 2/3 - 1
1-203452511-C-T c.199C>T p.P67S Missense 2/3 - 1
1-203452512-C-T c.200C>T p.P67L Missense 2/3 - 3
1-203452517-A-C c.205A>C p.I69L Missense 2/3 - 1
1-203452520-T-C c.208T>C p.F70L Missense 2/3 - 2
1-203452522-C-A c.210C>A p.F70L Missense 2/3 - 2
1-203452522-C-G c.210C>G p.F70L Missense 2/3 - 3
1-203452522-C-T c.210C>T p.F70= Synonymous 2/3 - 1
1-203452528-CTGTCCCCGCGAATGCTACTGCCCCCCTGAT-C c.218_247del p.C73_D82del InFrameDeletion 2/3 - 1
1-203452531-T-C c.219T>C p.C73= Synonymous 2/3 - 2
1-203452532-C-G c.220C>G p.P74A Missense 2/3 - 1
1-203452532-C-T c.220C>T p.P74S Missense 2/3 - 3
1-203452534-C-A c.222C>A p.P74= Synonymous 2/3 - 1
1-203452534-C-G c.222C>G p.P74= Synonymous 2/3 - 1
1-203452534-C-T c.222C>T p.P74= Synonymous 2/3 - 1
1-203452535-C-T c.223C>T p.R75C Missense 2/3 - 3
1-203452536-G-A c.224G>A p.R75H Missense 2/3 - 1
1-203452538-G-A c.226G>A p.E76K Missense 2/3 - 4
1-203452538-G-C c.226G>C p.E76Q Missense 2/3 - 4
1-203452553-C-T c.241C>T p.P81S Missense 2/3 - 1
1-203452548-GC-G c.242del p.P81Lfs*61 Frameshift 2/3 - 4
1-203452548-G-GC c.242dup p.D82* Nonsense 2/3 - 1
1-203452554-C-T c.242C>T p.P81L Missense 2/3 - 2
1-203452562-C-T c.250C>T p.P84S Missense 2/3 - 1
1-203452563-C-A c.251C>A p.P84Q Missense 2/3 - 1
1-203452563-C-T c.251C>T p.P84L Missense 2/3 - 1
1-203452569-C-T c.257C>T p.A86V Missense 2/3 - 1
1-203452570-C-T c.258C>T p.A86= Synonymous 2/3 - 1
1-203452573-C-G c.261C>G p.L87= Synonymous 2/3 - 1
1-203452578-G-A c.266G>A p.C89Y Missense 2/3 - 3
1-203452580-G-A c.268G>A p.D90N Missense 2/3 - 1
1-203452584-G-T c.272G>T p.S91I Missense 2/3 - 1
1-203452586-C-T c.274C>T p.R92C Missense 2/3 - 3
1-203452587-G-A c.275G>A p.R92H Missense 2/3 - 3
1-203452592-C-T c.280C>T p.L94= Synonymous 2/3 - 3
1-203452595-C-T c.283C>T p.R95* Nonsense 2/3 - 1
1-203452596-G-A c.284G>A p.R95Q Missense 2/3 - 4
1-203452599-A-G c.287A>G p.K96R Missense 2/3 - 1
1-203452601-G-T c.289G>T p.V97F Missense 2/3 - 1
1-203452608-T-C c.296T>C p.V99A Missense 2/3 - 1
1-203452613-C-G c.301C>G p.P101A Missense 2/3 - 1
1-203452613-C-T c.301C>T p.P101S Missense 2/3 - 4
1-203452614-C-A c.302C>A p.P101Q Missense 2/3 - 1
1-203452614-C-T c.302C>T p.P101L Missense 2/3 - 3
1-203452615-G-A c.303G>A p.P101= Synonymous 2/3 - 4
1-203452615-G-C c.303G>C p.P101= Synonymous 2/3 - 3
1-203452615-G-T c.303G>T p.P101= Synonymous 2/3 - 3
1-203452618-C-T c.306C>T p.P102= Synonymous 2/3 - 1
1-203452619-C-A c.307C>A p.R103S Missense 2/3 - 1
1-203452619-C-T c.307C>T p.R103C Missense 2/3 - 3
1-203452620-G-A c.308G>A p.R103H Missense 2/3 - 3
1-203452620-G-T c.308G>T p.R103L Missense 2/3 - 1
1-203452624-C-A c.312C>A p.I104= Synonymous 2/3 - 1
1-203452624-C-T c.312C>T p.I104= Synonymous 2/3 - 2
1-203452626-A-T c.314A>T p.H105L Missense 2/3 - 1
1-203452629-A-C c.317A>C p.Y106S Missense 2/3 - 1
1-203452631-CTC-ATG c.319_321delinsATG p.L107M Missense 2/3 - 1
1-203452637-C-A c.325C>A p.L109I Missense 2/3 - 1
1-203452640-C-A c.328C>A p.Q110K Missense 2/3 - 1
1-203452645-C-T c.333C>T p.N111= Synonymous 2/3 - 1
1-203452647-A-G c.335A>G p.N112S Missense 2/3 - 1
1-203452655-A-T c.343A>T p.T115S Missense 2/3 - 1
1-203452656-C-G c.344C>G p.T115S Missense 2/3 - 1
1-203452658-G-A c.346G>A p.E116K Missense 2/3 - 1
1-203452658-G-T c.346G>T p.E116* Nonsense 2/3 - 1
1-203452660-G-C c.348G>C p.E116D Missense 2/3 - 1
1-203452660-G-T c.348G>T p.E116D Missense 2/3 - 1
1-203452664-C-T c.352C>T p.P118S Missense 2/3 - 1
1-203452666-GG-TC c.354_355delinsTC p.V119L Missense 2/3 - 1
1-203452674-C-A c.362C>A p.S121Y Missense 2/3 - 1
1-203452674-C-T c.362C>T p.S121F Missense 2/3 - 2
1-203452675-C-T c.363C>T p.S121= Synonymous 2/3 - 2
1-203452685-G-A c.373G>A p.A125T Missense 2/3 - 1
1-203452686-C-T c.374C>T p.A125V Missense 2/3 - 1
1-203452687-C-A c.375C>A p.A125= Synonymous 2/3 - 1
1-203452687-C-G c.375C>G p.A125= Synonymous 2/3 - 1
1-203452687-C-T c.375C>T p.A125= Synonymous 2/3 - 1
1-203452694-CT-TC c.382_383delinsTC p.L128S Missense 2/3 - 2
1-203452697-CGA-TGG c.385_387delinsTGG p.R129W Missense 2/3 - 1
1-203452698-GA-AT c.386_387delinsAT p.R129H Missense 2/3 - 1
1-203452703-A-G c.391A>G p.I131V Missense 2/3 - 1
1-203452706-A-G c.394A>G p.N132D Missense 2/3 - 1
1-203452708-C-A c.396C>A p.N132K Missense 2/3 - 4
1-203452708-C-G c.396C>G p.N132K Missense 2/3 - 3
1-203452710-T-C c.398T>C p.L133P Missense 2/3 - 1
1-203452712-G-A c.400G>A p.D134N Missense 2/3 - 2
1-203452712-G-T c.400G>T p.D134Y Missense 2/3 - 3
1-203452720-C-T c.408C>T p.N136= Synonymous 2/3 - 2
1-203452721-C-A c.409C>A p.R137= Synonymous 2/3 - 1
1-203452723-A-C c.411A>C p.R137= Synonymous 2/3 - 1
1-203452723-A-G c.411A>G p.R137= Synonymous 2/3 - 1
1-203452723-A-T c.411A>T p.R137= Synonymous 2/3 - 1
1-203452722-G-A c.410G>A p.R137Q Missense 2/3 - 5
1-203452724-A-G c.412A>G p.I138V Missense 2/3 - 1
1-203452727-C-T c.415C>T p.R139C Missense 2/3 - 3
1-203452733-A-G c.421A>G p.I141V Missense 2/3 - 1
1-203452734-T-C c.422T>C p.I141T Missense 2/3 - 5
1-203452735-A-G c.423A>G p.I141M Missense 2/3 - 1
1-203452736-G-A c.424G>A p.D142N Missense 2/3 - 7
1-203452745-G-A c.433G>A p.V145M Missense 2/3 - 4
1-203452745-GTG-ATC c.433_435delinsATC p.V145I Missense 2/3 - 1
1-203452748-C-T c.436C>T p.L146= Synonymous 2/3 - 1
1-203452750-G-A c.438G>A p.L146= Synonymous 2/3 - 1
1-203452750-G-C c.438G>C p.L146= Synonymous 2/3 - 1
1-203452750-G-T c.438G>T p.L146= Synonymous 2/3 - 1
1-203452752-A-G c.440A>G p.E147G Missense 2/3 - 1
1-203452761-C-T c.449C>T p.P150L Missense 2/3 - 2
1-203452762-C-A c.450C>A p.P150= Synonymous 2/3 - 1
1-203452762-C-G c.450C>G p.P150= Synonymous 2/3 - 1
1-203452762-C-T c.450C>T p.P150= Synonymous 2/3 - 1
1-203452763-G-A c.451G>A p.G151S Missense 2/3 - 1
1-203452763-G-T c.451G>T p.G151C Missense 2/3 - 1
1-203452764-G-C c.452G>C p.G151A Missense 2/3 - 1
1-203452769-G-A c.457G>A p.V153M Missense 2/3 - 2
1-203452770-TG-CA c.458_459inv p.V153A Missense 2/3 - 1
1-203452775-C-T c.463C>T p.L155F Missense 2/3 - 1
1-203452777-C-G c.465C>G p.L155= Synonymous 2/3 - 2
1-203452781-A-G c.469A>G p.M157V Missense 2/3 - 16
1-203452782-T-C c.470T>C p.M157T Missense 2/3 - 1
1-203452791-A-C c.479A>C p.N160T Missense 2/3 - 1
1-203452791-A-G c.479A>G p.N160S Missense 2/3 - 1
1-203452791-A-T c.479A>T p.N160I Missense 2/3 - 1
1-203452793-C-T c.481C>T p.Q161* Nonsense 2/3 - 1
1-203452799-G-C c.487G>C p.E163Q Missense 2/3 - 1
1-203452808-C-T c.496C>T p.P166S Missense 2/3 - 1
1-203452809-C-A c.497C>A p.P166H Missense 2/3 - 1
1-203452813-G-A c.501G>A p.S167= Synonymous 2/3 - 1
1-203452813-G-C c.501G>C p.S167= Synonymous 2/3 - 1
1-203452815-C-T c.503C>T p.A168V Missense 2/3 - 5
1-203452820-CC-TT c.508_509delinsTT p.P170F Missense 2/3 - 1
1-203452820-C-T c.508C>T p.P170S Missense 2/3 - 1
1-203452821-C-T c.509C>T p.P170L Missense 2/3 - 1
1-203452824-G-A c.512G>A p.R171Q Missense 2/3 - 8
1-203452824-G-T c.512G>T p.R171L Missense 2/3 - 2
1-203452830-T-A c.518T>A p.L173Q Missense 2/3 - 1
1-203452839-T-C c.527T>C p.L176P Missense 2/3 - 1
1-203452838-C-T c.526C>T p.L176= Synonymous 2/3 - 1
1-203452840-G-A c.528G>A p.L176= Synonymous 2/3 - 1
1-203452840-G-C c.528G>C p.L176= Synonymous 2/3 - 1
1-203452840-G-T c.528G>T p.L176= Synonymous 2/3 - 1
1-203452843-G-A c.531G>A p.R177= Synonymous 2/3 - 1
1-203452843-G-C c.531G>C p.R177S Missense 2/3 - 2
1-203452843-G-T c.531G>T p.R177S Missense 2/3 - 1
1-203452859-A-G c.547A>G p.I183V Missense 2/3 - 1
1-203452864-C-A c.552C>A p.S184= Synonymous 2/3 - 1
1-203452864-C-G c.552C>G p.S184= Synonymous 2/3 - 1
1-203452864-C-T c.552C>T p.S184= Synonymous 2/3 - 1
1-203452866-G-A c.554G>A p.R185K Missense 2/3 - 1
1-203452870-C-A c.558C>A p.I186= Synonymous 2/3 - 1
1-203452870-C-T c.558C>T p.I186= Synonymous 2/3 - 1
1-203452871-C-T c.559C>T p.P187S Missense 2/3 - 2
1-203452872-C-T c.560C>T p.P187L Missense 2/3 - 2
1-203452873-G-A c.561G>A p.P187= Synonymous 2/3 - 1
1-203452874-C-T c.562C>T p.P188S Missense 2/3 - 2
1-203452879-T-G c.567T>G p.G189= Synonymous 2/3 - 1
1-203452883-T-C c.571T>C p.F191L Missense 2/3 - 1
1-203452885-C-A c.573C>A p.F191L Missense 2/3 - 1
1-203452885-C-G c.573C>G p.F191L Missense 2/3 - 1
1-203452901-C-G c.589C>G p.L197V Missense 2/3 - 1
1-203452908-T-C c.596T>C p.L199P Missense 2/3 - 1
1-203452909-C-A c.597C>A p.L199= Synonymous 2/3 - 1
1-203452913-G-T c.601G>T p.D201Y Missense 2/3 - 6
1-203452916-C-A c.604C>A p.L202I Missense 2/3 - 1
1-203452919-C-T c.607C>T p.Q203* Nonsense 2/3 - 3
1-203452922-C-T c.610C>T p.H204Y Missense 2/3 - 1
1-203452926-A-T c.614A>T p.N205I Missense 2/3 - 1
1-203452929-G-A c.617G>A p.R206K Missense 2/3 - 6
1-203452932-T-C c.620T>C p.L207P Missense 2/3 - 1
1-203452937-G-A c.625G>A p.D209N Missense 2/3 - 1
1-203452939-C-T c.627C>T p.D209= Synonymous 2/3 - 1
1-203452942-C-A c.630C>A p.G210= Synonymous 2/3 - 1
1-203452942-C-G c.630C>G p.G210= Synonymous 2/3 - 1
1-203452942-C-T c.630C>T p.G210= Synonymous 2/3 - 1
1-203452943-G-A c.631G>A p.V211I Missense 2/3 - 5
1-203452945-C-A c.633C>A p.V211= Synonymous 2/3 - 1
1-203452945-C-G c.633C>G p.V211= Synonymous 2/3 - 1
1-203452945-C-T c.633C>T p.V211= Synonymous 2/3 - 1
1-203452946-T-C c.634T>C p.F212L Missense 2/3 - 1
1-203452946-T-G c.634T>G p.F212V Missense 2/3 - 1
1-203452948-C-A c.636C>A p.F212L Missense 2/3 - 1
1-203452948-C-G c.636C>G p.F212L Missense 2/3 - 1
1-203452951-G-A c.639G>A p.K213= Synonymous 2/3 - 1
1-203452952-C-G c.640C>G p.P214A Missense 2/3 - 2
1-203452954-C-G c.642C>G p.P214= Synonymous 2/3 - 1
1-203452957-C-T c.645C>T p.D215= Synonymous 2/3 - 3
1-203452964-C-A c.652C>A p.H218N Missense 2/3 - 1
1-203452966-T-C c.654T>C p.H218= Synonymous 2/3 - 1
1-203452966-T-G c.654T>G p.H218Q Missense 2/3 - 2
1-203452968-G-A c.656G>A p.G219D Missense 2/3 - 1
1-203452981-C-G c.669C>G p.L223= Synonymous 2/3 - 1
1-203452982-A-G c.670A>G p.M224V Missense 2/3 - 6
1-203452983-T-C c.671T>C p.M224T Missense 2/3 - 1
1-203452983-T-G c.671T>G p.M224R Missense 2/3 - 1
1-203452988-C-G c.676C>G p.L226V Missense 2/3 - 1
1-203452994-C-T c.682C>T p.L228= Synonymous 2/3 - 1
1-203452996-G-A c.684G>A p.L228= Synonymous 2/3 - 1
1-203452996-G-C c.684G>C p.L228= Synonymous 2/3 - 1
1-203452996-G-T c.684G>T p.L228= Synonymous 2/3 - 1
1-203452997-G-A c.685G>A p.A229T Missense 2/3 - 2
1-203452999-C-T c.687C>T p.A229= Synonymous 2/3 - 2
1-203453001-A-G c.689A>G p.H230R Missense 2/3 - 1
1-203453009-C-T c.697C>T p.L233= Synonymous 2/3 - 2
1-203453011-G-A c.699G>A p.L233= Synonymous 2/3 - 1
1-203453011-G-C c.699G>C p.L233= Synonymous 2/3 - 1
1-203453011-G-T c.699G>T p.L233= Synonymous 2/3 - 1
1-203453013-G-T c.701G>T p.R234I Missense 2/3 - 1
1-203453017-G-C c.705G>C p.K235N Missense 2/3 - 1
1-203453017-G-T c.705G>T p.K235N Missense 2/3 - 1
1-203453021-C-T c.709C>T p.P237S Missense 2/3 - 4
1-203453022-C-T c.710C>T p.P237L Missense 2/3 - 2
1-203453023-G-A c.711G>A p.P237= Synonymous 2/3 - 1
1-203453031-T-C c.719T>C p.V240A Missense 2/3 - 1
1-203453032-C-A c.720C>A p.V240= Synonymous 2/3 - 1
1-203453032-C-G c.720C>G p.V240= Synonymous 2/3 - 1
1-203453032-C-T c.720C>T p.V240= Synonymous 2/3 - 1
1-203453035-C-A c.723C>A p.P241= Synonymous 2/3 - 2
1-203453036-A-G c.724A>G p.T242A Missense 2/3 - 1
1-203453039-G-A c.727G>A p.A243T Missense 2/3 - 3
1-203453040-C-G c.728C>G p.A243G Missense 2/3 - 1
1-203453041-C-A c.729C>A p.A243= Synonymous 2/3 - 1
1-203453041-C-G c.729C>G p.A243= Synonymous 2/3 - 1
1-203453041-C-T c.729C>T p.A243= Synonymous 2/3 - 1
1-203453047-C-A c.735C>A p.H245Q Missense 2/3 - 2
1-203453047-C-G c.735C>G p.H245Q Missense 2/3 - 1
1-203453052-T-A c.740T>A p.L247H Missense 2/3 - 1
1-203453056-C-A c.744C>A p.Y248* Nonsense 2/3 - 1
1-203453056-C-G c.744C>G p.Y248* Nonsense 2/3 - 1
1-203453057-C-A c.745C>A p.L249M Missense 2/3 - 4
1-203453057-C-T c.745C>T p.L249= Synonymous 2/3 - 2
1-203453064-G-T c.752G>T p.S251I Missense 2/3 - 1
1-203453067-A-G c.755A>G p.N252S Missense 2/3 - 5
1-203453071-G-A c.759G>A p.K253= Synonymous 2/3 - 1
1-203453075-G-A c.763G>A p.E255K Missense 2/3 - 1
1-203453080-C-T c.768C>T p.T256= Synonymous 2/3 - 1
1-203453082-T-C c.770T>C p.I257T Missense 2/3 - 1
1-203453084-C-A c.772C>A p.P258T Missense 2/3 - 1
1-203453084-CC-TT c.772_773delinsTT p.P258F Missense 2/3 - 3
1-203453084-C-T c.772C>T p.P258S Missense 2/3 - 2
1-203453085-C-T c.773C>T p.P258L Missense 2/3 - 8
1-203453089-C-A c.777C>A p.N259K Missense 2/3 - 1
1-203453089-C-T c.777C>T p.N259= Synonymous 2/3 - 6
1-203453090-G-A c.778G>A p.G260R Missense 2/3 - 2
1-203453090-G-C c.778G>C p.G260R Missense 2/3 - 2
1-203453093-T-C c.781T>C p.Y261H Missense 2/3 - 1
1-203453095-C-A c.783C>A p.Y261* Nonsense 2/3 - 1
1-203453095-C-G c.783C>G p.Y261* Nonsense 2/3 - 1
1-203453098-C-T c.786C>T p.F262= Synonymous 2/3 - 1
1-203453101-G-A c.789G>A p.K263= Synonymous 2/3 - 1
1-203453109-C-T c.797C>T p.P266L Missense 2/3 - 1
1-203453112-A-G c.800A>G p.N267S Missense 2/3 - 1
1-203453115-T-C c.803T>C p.L268P Missense 2/3 - 1
1-203453117-G-T c.805G>T p.A269S Missense 2/3 - 1
1-203453119-C-A c.807C>A p.A269= Synonymous 2/3 - 1
1-203453126-C-T c.814C>T p.R272W Missense 2/3 - 1
1-203453133-A-G c.821A>G p.N274S Missense 2/3 - 4
1-203453137-C-T c.825C>T p.Y275= Synonymous 2/3 - 1
1-203453143-G-A c.831G>A p.K277= Synonymous 2/3 - 1
1-203453154-G-T c.842G>T p.R281M Missense 2/3 - 1
1-203453155-G-T c.843G>T p.R281S Missense 2/3 - 2
1-203453157-G-A c.845G>A p.G282E Missense 2/3 - 1
1-203453157-G-C c.845G>C p.G282A Missense 2/3 - 1
1-203453159-C-A c.847C>A p.L283I Missense 2/3 - 1
1-203453164-C-CT c.852_853insT p.K285* Nonsense 2/3 - 1
1-203453172-C-G c.860C>G p.S287C Missense 2/3 - 1
1-203453189-C-A c.877C>A p.L293M Missense 2/3 - 2
1-203453203-C-T c.891C>T p.H297= Synonymous 2/3 - 1
1-203453207-T-C c.895T>C p.S299P Missense 2/3 - 2
1-203453208-C-G c.896C>G p.S299C Missense 2/3 - 1
1-203453209-C-T c.897C>T p.S299= Synonymous 2/3 - 1
1-203453215-C-A c.903C>A p.N301K Missense 2/3 - 1
1-203453215-C-G c.903C>G p.N301K Missense 2/3 - 1
1-203453216-AG-TA c.904_905delinsTA p.R302* Nonsense 2/3 - 1
1-203453221-C-T c.909C>T p.I303= Synonymous 2/3 - 1
1-203453226-G-A c.914G>A p.S305N Missense 2/3 - 1
1-203453230-G-A c.918G>A p.V306= Synonymous 2/3 - 2
1-203453230-G-C c.918G>C p.V306= Synonymous 2/3 - 1
1-203453230-G-T c.918G>T p.V306= Synonymous 2/3 - 1
1-203453234-G-A c.922G>A p.A308T Missense 2/3 - 2
1-203453242-C-A c.930C>A p.N310K Missense 2/3 - 1
1-203453245-C-A c.933C>A p.N311K Missense 2/3 - 2
1-203453245-C-G c.933C>G p.N311K Missense 2/3 - 1
1-203453246-AGG-TGT c.934_936delinsTGT p.R312C Missense 2/3 - 1
1-203453248-G-C c.936G>C p.R312S Missense 2/3 - 1
1-203453248-G-T c.936G>T p.R312S Missense 2/3 - 1
1-203453253-A-G c.941A>G p.E314G Missense 2/3 - 3
1-203453258-C-A c.946C>A p.L316M Missense 2/3 - 4
1-203453263-C-T c.951C>T p.Y317= Synonymous 2/3 - 1
1-203453264-C-A c.952C>A p.L318I Missense 2/3 - 1
1-203453266-C-A c.954C>A p.L318= Synonymous 2/3 - 1
1-203453266-C-G c.954C>G p.L318= Synonymous 2/3 - 2
1-203453266-C-T c.954C>T p.L318= Synonymous 2/3 - 3
1-203453268-A-C c.956A>C p.N319T Missense 2/3 - 1
1-203453269-C-A c.957C>A p.N319K Missense 2/3 - 4
1-203453269-C-G c.957C>G p.N319K Missense 2/3 - 3
1-203453270-A-G c.958A>G p.N320D Missense 2/3 - 1
1-203453271-A-G c.959A>G p.N320S Missense 2/3 - 1
1-203453265-TCAA-T c.960_962del p.N321del InFrameDeletion 2/3 - 1
1-203453274-A-G c.962A>G p.N321S Missense 2/3 - 3
1-203453277-G-C c.965G>C p.S322T Missense 2/3 - 1
1-203453278-C-T c.966C>T p.S322= Synonymous 2/3 - 1
1-203453280-T-A c.968T>A p.I323N Missense 2/3 - 1
1-203453281-C-A c.969C>A p.I323= Synonymous 2/3 - 1
1-203453281-C-T c.969C>T p.I323= Synonymous 2/3 - 1
1-203453282-G-A c.970G>A p.E324K Missense 2/3 - 1
1-203453285-A-C c.973A>C p.K325Q Missense 2/3 - 1
1-203453287-T-A c.973+2T>A - IntronicSNV - 2/2 1
1-203453313-G-A c.973+28G>A - IntronicSNV - 2/2 1
1-203453502-C-T c.973+217C>T - IntronicSNV - 2/2 1
1-203455754-G-A c.974-80G>A - IntronicSNV - 2/2 2
1-203455816-C-T c.974-18C>T - IntronicSNV - 2/2 1
1-203455841-C-T c.981C>T p.N327= Synonymous 3/3 - 5
1-203455842-G-A c.982G>A p.G328R Missense 3/3 - 6
1-203455842-G-C c.982G>C p.G328R Missense 3/3 - 1
1-203455842-G-T c.982G>T p.G328* Nonsense 3/3 - 2
1-203455843-G-A c.983G>A p.G328E Missense 3/3 - 3
1-203455845-A-G c.985A>G p.T329A Missense 3/3 - 3
1-203455846-C-A c.986C>A p.T329N Missense 3/3 - 1
1-203455846-C-T c.986C>T p.T329I Missense 3/3 - 1
1-203455850-G-C c.990G>C p.Q330H Missense 3/3 - 3
1-203455850-G-T c.990G>T p.Q330H Missense 3/3 - 1
1-203455852-T-C c.992T>C p.I331T Missense 3/3 - 1
1-203455861-A-G c.1001A>G p.N334S Missense 3/3 - 10
1-203455861-A-T c.1001A>T p.N334I Missense 3/3 - 2
1-203455862-C-T c.1002C>T p.N334= Synonymous 3/3 - 3
1-203455864-A-G c.1004A>G p.D335G Missense 3/3 - 2
1-203455866-C-A c.1006C>A p.L336I Missense 3/3 - 1
1-203455873-C-T c.1013C>T p.A338V Missense 3/3 - 4
1-203455874-G-A c.1014G>A p.A338= Synonymous 3/3 - 1
1-203455874-G-C c.1014G>C p.A338= Synonymous 3/3 - 1
1-203455874-G-T c.1014G>T p.A338= Synonymous 3/3 - 1
1-203455880-T-C c.1020T>C p.H340= Synonymous 3/3 - 1
1-203455883-C-T c.1023C>T p.D341= Synonymous 3/3 - 2
1-203455888-C-T c.1028C>T p.S343F Missense 3/3 - 1
1-203455889-C-A c.1029C>A p.S343= Synonymous 3/3 - 1
1-203455891-C-T c.1031C>T p.S344L Missense 3/3 - 1
1-203455892-G-A c.1032G>A p.S344= Synonymous 3/3 - 2
1-203455901-G-A c.1041G>A p.E347= Synonymous 3/3 - 1
1-203455902-A-C c.1042A>C p.N348H Missense 3/3 - 12
1-203455905-G-A c.1045G>A p.V349M Missense 3/3 - 1
1-203455908-C-T c.1048C>T p.P350S Missense 3/3 - 1
1-203455912-A-G c.1052A>G p.H351R Missense 3/3 - 2
1-203455914-C-A c.1054C>A p.L352M Missense 3/3 - 2
1-203455917-C-A c.1057C>A p.R353S Missense 3/3 - 1
1-203455918-G-A c.1058G>A p.R353H Missense 3/3 - 1
1-203455924-T-C c.1064T>C p.L355P Missense 3/3 - 1
1-203455926-C-A c.1066C>A p.R356= Synonymous 3/3 - 1
1-203455928-G-C c.1068G>C p.R356= Synonymous 3/3 - 1
1-203455928-G-T c.1068G>T p.R356= Synonymous 3/3 - 1
1-203455927-G-A c.1067G>A p.R356Q Missense 3/3 - 2
1-203455928-G-A c.1068G>A p.R356= Synonymous 3/3 - 2
1-203455936-G-A c.1076G>A p.G359E Missense 3/3 - 1
1-203455943-C-G c.1083C>G p.Y361* Nonsense 3/3 - 1
1-203455950-C-A c.1090C>A p.P364T Missense 3/3 - 1
1-203455950-C-T c.1090C>T p.P364S Missense 3/3 - 1
1-203455951-C-T c.1091C>T p.P364L Missense 3/3 - 2
1-203455952-G-A c.1092G>A p.P364= Synonymous 3/3 - 1
1-203455952-G-C c.1092G>C p.P364= Synonymous 3/3 - 1
1-203455952-G-T c.1092G>T p.P364= Synonymous 3/3 - 1
1-203455956-A-C c.1096A>C p.I366L Missense 3/3 - 1
1-203455957-T-C c.1097T>C p.I366T Missense 3/3 - 2
1-203455960-C-A c.1100C>A p.P367Q Missense 3/3 - 1
1-203455960-C-T c.1100C>T p.P367L Missense 3/3 - 1
1-203455961-G-A c.1101G>A p.P367= Synonymous 3/3 - 1
1-203455961-G-C c.1101G>C p.P367= Synonymous 3/3 - 1
1-203455961-G-T c.1101G>T p.P367= Synonymous 3/3 - 1
1-203455962-C-A c.1102C>A p.L368M Missense 3/3 - 1
1-203455963-T-C c.1103T>C p.L368P Missense 3/3 - 1
1-203455965-G-A c.1105G>A p.D369N Missense 3/3 - 2
1-203455966-A-C c.1106A>C p.D369A Missense 3/3 - 1
1-203455983-C-G c.1123C>G p.R375G Missense 3/3 - 1
1-203455983-C-T c.1123C>T p.R375C Missense 3/3 - 1
1-203455992-C-T c.1132C>T p.Q378* Nonsense 3/3 - 1
1-203455997-C-A c.1137C>A p.S379= Synonymous 3/3 - 1
1-203455997-C-G c.1137C>G p.S379= Synonymous 3/3 - 1
1-203455997-C-T c.1137C>T p.S379= Synonymous 3/3 - 4
1-203456000-G-A c.1140G>A p.V380= Synonymous 3/3 - 1
1-203456000-G-C c.1140G>C p.V380= Synonymous 3/3 - 1
1-203456000-G-T c.1140G>T p.V380= Synonymous 3/3 - 1
1-203456001-G-A c.1141G>A p.V381I Missense 3/3 - 1
1-203456001-G-T c.1141G>T p.V381F Missense 3/3 - 2
1-203456026-G-A c.*17G>A - 3-UTRSNV 3/3 - 1
1-203456026-G-C c.*17G>C - 3-UTRSNV 3/3 - 1
1-203456036-T-A c.*27T>A - 3-UTRSNV 3/3 - 1
1-203456036-T-C c.*27T>C - 3-UTRSNV 3/3 - 1
1-203456098-T-A c.*89T>A - 3-UTRSNV 3/3 - 5
1-203456098-T-C c.*89T>C - 3-UTRSNV 3/3 - 5
1-203456221-C-A c.*212C>A - 3-UTRSNV 3/3 - 3
1-203457098-A-G c.*1089A>G - 3-UTRSNV 3/3 - 2
1-203457476-C-T c.*1467C>T - 3-UTRSNV 3/3 - 1
1-203458278-C-G c.*2269C>G - 3-UTRSNV 3/3 - 1