TRIM58

TRIM58 tripartite motif containing 58

Annotation transcript: NM_015431.4

898 unique variant annotations were identified in 457 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
1-248020526-C-A c.-23C>A - 5-UTRSNV 1/6 - 1
1-248020544-G-A c.-5G>A - 5-UTRSNV 1/6 - 1
1-248020552-G-A c.4G>A p.A2T Missense 1/6 - 1
1-248020552-G-C c.4G>C p.A2P Missense 1/6 - 1
1-248020553-C-T c.5C>T p.A2V Missense 1/6 - 1
1-248020556-G-C c.8G>C p.W3S Missense 1/6 - 29
1-248020556-G-T c.8G>T p.W3L Missense 1/6 - 13
1-248020557-G-A c.9G>A p.W3* Nonsense 1/6 - 1
1-248020558-G-C c.10G>C p.A4P Missense 1/6 - 1
1-248020563-G-A c.15G>A p.P5= Synonymous 1/6 - 1
1-248020563-G-C c.15G>C p.P5= Synonymous 1/6 - 1
1-248020563-G-T c.15G>T p.P5= Synonymous 1/6 - 1
1-248020565-C-A c.17C>A p.P6H Missense 1/6 - 1
1-248020565-C-T c.17C>T p.P6L Missense 1/6 - 3
1-248020567-G-T c.19G>T p.G7W Missense 1/6 - 1
1-248020568-G-A c.20G>A p.G7E Missense 1/6 - 1
1-248020570-G-A c.22G>A p.E8K Missense 1/6 - 1
1-248020579-C-T c.31C>T p.R11C Missense 1/6 - 1
1-248020580-G-T c.32G>T p.R11L Missense 1/6 - 1
1-248020582-G-A c.34G>A p.E12K Missense 1/6 - 1
1-248020584-G-A c.36G>A p.E12= Synonymous 1/6 - 1
1-248020588-GC-AA c.40_41delinsAA p.A14K Missense 1/6 - 1
1-248020588-GC-TG c.40_41delinsTG p.A14W Missense 1/6 - 1
1-248020589-C-T c.41C>T p.A14V Missense 1/6 - 1
1-248020590-G-A c.42G>A p.A14= Synonymous 1/6 - 3
1-248020590-G-C c.42G>C p.A14= Synonymous 1/6 - 2
1-248020590-G-T c.42G>T p.A14= Synonymous 1/6 - 2
1-248020592-G-A c.44G>A p.R15Q Missense 1/6 - 1
1-248020594-T-C c.46T>C p.C16R Missense 1/6 - 1
1-248020595-G-T c.47G>T p.C16F Missense 1/6 - 3
1-248020596-C-G c.48C>G p.C16W Missense 1/6 - 1
1-248020597-C-A c.49C>A p.P17T Missense 1/6 - 1
1-248020598-C-T c.50C>T p.P17L Missense 1/6 - 2
1-248020599-G-T c.51G>T p.P17= Synonymous 1/6 - 1
1-248020603-T-C c.55T>C p.C19R Missense 1/6 - 1
1-248020605-C-T c.57C>T p.C19= Synonymous 1/6 - 2
1-248020609-G-T c.61G>T p.D21Y Missense 1/6 - 3
1-248020614-C-T c.66C>T p.F22= Synonymous 1/6 - 1
1-248020615-C-T c.67C>T p.L23= Synonymous 1/6 - 2
1-248020616-T-A c.68T>A p.L23Q Missense 1/6 - 2
1-248020623-G-A c.75G>A p.E25= Synonymous 1/6 - 2
1-248020625-C-A c.77C>A p.P26Q Missense 1/6 - 1
1-248020626-G-A c.78G>A p.P26= Synonymous 1/6 - 2
1-248020626-G-C c.78G>C p.P26= Synonymous 1/6 - 1
1-248020626-G-T c.78G>T p.P26= Synonymous 1/6 - 1
1-248020627-G-A c.79G>A p.V27I Missense 1/6 - 1
1-248020627-G-T c.79G>T p.V27F Missense 1/6 - 1
1-248020630-A-T c.82A>T p.S28C Missense 1/6 - 1
1-248020633-G-A c.85G>A p.V29M Missense 1/6 - 4
1-248020636-G-T c.88G>T p.D30Y Missense 1/6 - 1
1-248020641-C-T c.93C>T p.C31= Synonymous 1/6 - 1
1-248020642-G-A c.94G>A p.G32S Missense 1/6 - 2
1-248020645-CA-GC c.97_98delinsGC p.H33A Missense 1/6 - 2
1-248020647-C-T c.99C>T p.H33= Synonymous 1/6 - 1
1-248020648-A-G c.100A>G p.S34G Missense 1/6 - 1
1-248020649-G-A c.101G>A p.S34N Missense 1/6 - 3
1-248020653-C-T c.105C>T p.F35= Synonymous 1/6 - 1
1-248020654-T-A c.106T>A p.C36S Missense 1/6 - 1
1-248020655-G-C c.107G>C p.C36S Missense 1/6 - 1
1-248020656-C-T c.108C>T p.C36= Synonymous 1/6 - 1
1-248020659-C-T c.111C>T p.L37= Synonymous 1/6 - 1
1-248020661-G-A c.113G>A p.R38K Missense 1/6 - 1
1-248020664-G-A c.116G>A p.C39Y Missense 1/6 - 1
1-248020672-G-A c.124G>A p.E42K Missense 1/6 - 3
1-248020675-T-G c.127T>G p.F43V Missense 1/6 - 1
1-248020676-T-A c.128T>A p.F43Y Missense 1/6 - 1
1-248020677-C-T c.129C>T p.F43= Synonymous 1/6 - 2
1-248020678-T-G c.130T>G p.C44G Missense 1/6 - 2
1-248020683-G-C c.135G>C p.E45D Missense 1/6 - 1
1-248020683-G-T c.135G>T p.E45D Missense 1/6 - 2
1-248020688-C-T c.140C>T p.S47L Missense 1/6 - 1
1-248020689-G-A c.141G>A p.S47= Synonymous 1/6 - 2
1-248020689-G-C c.141G>C p.S47= Synonymous 1/6 - 1
1-248020689-G-T c.141G>T p.S47= Synonymous 1/6 - 1
1-248020691-A-G c.143A>G p.D48G Missense 1/6 - 1
1-248020694-G-T c.146G>T p.G49V Missense 1/6 - 1
1-248020695-C-A c.147C>A p.G49= Synonymous 1/6 - 1
1-248020695-C-G c.147C>G p.G49= Synonymous 1/6 - 1
1-248020695-C-T c.147C>T p.G49= Synonymous 1/6 - 2
1-248020697-C-T c.149C>T p.A50V Missense 1/6 - 1
1-248020698-G-A c.150G>A p.A50= Synonymous 1/6 - 2
1-248020698-G-C c.150G>C p.A50= Synonymous 1/6 - 2
1-248020698-G-T c.150G>T p.A50= Synonymous 1/6 - 2
1-248020699-C-G c.151C>G p.Q51E Missense 1/6 - 2
1-248020702-G-C c.154G>C p.G52R Missense 1/6 - 1
1-248020704-C-A c.156C>A p.G52= Synonymous 1/6 - 2
1-248020704-C-G c.156C>G p.G52= Synonymous 1/6 - 2
1-248020704-C-T c.156C>T p.G52= Synonymous 1/6 - 3
1-248020708-G-A c.160G>A p.V54I Missense 1/6 - 1
1-248020710-C-G c.162C>G p.V54= Synonymous 1/6 - 1
1-248020712-A-T c.164A>T p.Y55F Missense 1/6 - 2
1-248020713-C-T c.165C>T p.Y55= Synonymous 1/6 - 3
1-248020714-G-A c.166G>A p.A56T Missense 1/6 - 3
1-248020715-C-G c.167C>G p.A56G Missense 1/6 - 1
1-248020715-C-T c.167C>T p.A56V Missense 1/6 - 2
1-248020716-C-A c.168C>A p.A56= Synonymous 1/6 - 1
1-248020718-G-C c.170G>C p.C57S Missense 1/6 - 1
1-248020721-C-T c.173C>T p.P58L Missense 1/6 - 3
1-248020723-C-A c.175C>A p.Q59K Missense 1/6 - 1
1-248020729-C-T c.181C>T p.R61W Missense 1/6 - 2
1-248020730-G-C c.182G>C p.R61P Missense 1/6 - 1
1-248020732-G-A c.184G>A p.G62S Missense 1/6 - 1
1-248020736-C-T c.188C>T p.P63L Missense 1/6 - 1
1-248020737-C-A c.189C>A p.P63= Synonymous 1/6 - 2
1-248020737-C-G c.189C>G p.P63= Synonymous 1/6 - 2
1-248020737-C-T c.189C>T p.P63= Synonymous 1/6 - 3
1-248020738-T-C c.190T>C p.F64L Missense 1/6 - 1
1-248020740-C-A c.192C>A p.F64L Missense 1/6 - 1
1-248020740-C-G c.192C>G p.F64L Missense 1/6 - 1
1-248020739-TTCCGGCCCTCGG-T c.191_202del p.F64_G68delinsC MultiAAMissense 1/6 - 1
1-248020740-C-T c.192C>T p.F64= Synonymous 1/6 - 2
1-248020742-G-A c.194G>A p.R65Q Missense 1/6 - 3
1-248020744-C-T c.196C>T p.P66S Missense 1/6 - 1
1-248020746-C-A c.198C>A p.P66= Synonymous 1/6 - 1
1-248020748-C-T c.200C>T p.S67L Missense 1/6 - 1
1-248020750-G-T c.202G>T p.G68C Missense 1/6 - 1
1-248020752-C-A c.204C>A p.G68= Synonymous 1/6 - 1
1-248020752-C-G c.204C>G p.G68= Synonymous 1/6 - 1
1-248020752-C-T c.204C>T p.G68= Synonymous 1/6 - 1
1-248020753-T-G c.205T>G p.F69V Missense 1/6 - 2
1-248020755-T-C c.207T>C p.F69= Synonymous 1/6 - 1
1-248020756-CGC-TGG c.208_210delinsTGG p.R70W Missense 1/6 - 1
1-248020756-C-T c.208C>T p.R70C Missense 1/6 - 4
1-248020758-C-A c.210C>A p.R70= Synonymous 1/6 - 1
1-248020758-C-G c.210C>G p.R70= Synonymous 1/6 - 1
1-248020758-C-T c.210C>T p.R70= Synonymous 1/6 - 1
1-248020759-C-T c.211C>T p.P71S Missense 1/6 - 1
1-248020760-C-A c.212C>A p.P71H Missense 1/6 - 1
1-248020762-A-T c.214A>T p.N72Y Missense 1/6 - 1
1-248020761-C-CA c.215dup p.N72Kfs*116 Frameshift 1/6 - 1
1-248020765-C-T c.217C>T p.R73W Missense 1/6 - 1
1-248020767-G-A c.219G>A p.R73= Synonymous 1/6 - 1
1-248020774-G-T c.226G>T p.A76S Missense 1/6 - 1
1-248020775-C-T c.227C>T p.A76V Missense 1/6 - 1
1-248020777-G-T c.229G>T p.G77C Missense 1/6 - 1
1-248020778-G-A c.230G>A p.G77D Missense 1/6 - 1
1-248020778-G-C c.230G>C p.G77A Missense 1/6 - 1
1-248020790-G-A c.242G>A p.S81N Missense 1/6 - 1
1-248020792-G-A c.244G>A p.V82M Missense 1/6 - 1
1-248020795-CGG-TGT c.247_249delinsTGT p.R83C Missense 1/6 - 1
1-248020796-G-A c.248G>A p.R83Q Missense 1/6 - 1
1-248020798-C-A c.250C>A p.R84= Synonymous 1/6 - 2
1-248020798-CG-AA c.250_251delinsAA p.R84K Missense 1/6 - 9
1-248020800-G-A c.252G>A p.R84= Synonymous 1/6 - 2
1-248020800-G-C c.252G>C p.R84= Synonymous 1/6 - 2
1-248020800-G-T c.252G>T p.R84= Synonymous 1/6 - 2
1-248020799-G-A c.251G>A p.R84Q Missense 1/6 - 3
1-248020801-C-T c.253C>T p.L85= Synonymous 1/6 - 1
1-248020803-G-A c.255G>A p.L85= Synonymous 1/6 - 1
1-248020803-G-C c.255G>C p.L85= Synonymous 1/6 - 1
1-248020803-G-T c.255G>T p.L85= Synonymous 1/6 - 1
1-248020804-G-A c.256G>A p.G86R Missense 1/6 - 1
1-248020804-G-C c.256G>C p.G86R Missense 1/6 - 1
1-248020809-G-C c.261G>C p.L87F Missense 1/6 - 1
1-248020809-G-T c.261G>T p.L87F Missense 1/6 - 1
1-248020813-G-A c.265G>A p.A89T Missense 1/6 - 1
1-248020814-C-A c.266C>A p.A89E Missense 1/6 - 2
1-248020814-C-T c.266C>T p.A89V Missense 1/6 - 1
1-248020820-C-T c.272C>T p.P91L Missense 1/6 - 1
1-248020818-GC-G c.273del p.A93Rfs*11 Frameshift 1/6 - 1
1-248020821-CG-C c.277del p.A93Rfs*11 Frameshift 1/6 - 1
1-248020825-G-A c.277G>A p.A93T Missense 1/6 - 1
1-248020826-C-A c.278C>A p.A93E Missense 1/6 - 1
1-248020828-C-T c.280C>T p.R94W Missense 1/6 - 3
1-248020830-G-A c.282G>A p.R94= Synonymous 1/6 - 1
1-248020832-G-A c.284G>A p.R95Q Missense 1/6 - 2
1-248020836-C-T c.288C>T p.C96= Synonymous 1/6 - 1
1-248020837-CGCG-C c.289_291del p.A97del InFrameDeletion 1/6 - 1
1-248020837-G-T c.289G>T p.A97S Missense 1/6 - 1
1-248020840-C-A c.292C>A p.R98= Synonymous 1/6 - 1
1-248020842-G-A c.294G>A p.R98= Synonymous 1/6 - 1
1-248020842-G-C c.294G>C p.R98= Synonymous 1/6 - 1
1-248020842-G-T c.294G>T p.R98= Synonymous 1/6 - 1
1-248020841-G-A c.293G>A p.R98Q Missense 1/6 - 1
1-248020849-G-T c.301G>T p.E101* Nonsense 1/6 - 1
1-248020858-AG-CT c.310_311inv p.S104L Missense 1/6 - 1
1-248020860-C-T c.312C>T p.S104= Synonymous 1/6 - 1
1-248020861-C-G c.313C>G p.R105G Missense 1/6 - 1
1-248020861-C-T c.313C>T p.R105C Missense 1/6 - 2
1-248020864-T-C c.316T>C p.F106L Missense 1/6 - 1
1-248020866-C-A c.318C>A p.F106L Missense 1/6 - 1
1-248020866-C-G c.318C>G p.F106L Missense 1/6 - 1
1-248020867-T-C c.319T>C p.C107R Missense 1/6 - 1
1-248020868-G-A c.320G>A p.C107Y Missense 1/6 - 1
1-248020869-C-T c.321C>T p.C107= Synonymous 1/6 - 1
1-248020876-G-T c.328G>T p.D110Y Missense 1/6 - 1
1-248020878-C-T c.330C>T p.D110= Synonymous 1/6 - 1
1-248020883-C-T c.335C>T p.A112V Missense 1/6 - 2
1-248020886-C-T c.338C>T p.A113V Missense 1/6 - 1
1-248020891-T-A c.343T>A p.C115S Missense 1/6 - 1
1-248020903-G-A c.355G>A p.D119N Missense 1/6 - 1
1-248020906-G-A c.358G>A p.A120T Missense 1/6 - 1
1-248020910-G-C c.362G>C p.G121A Missense 1/6 - 1
1-248020910-GC-AG c.362_363delinsAG p.G121E Missense 1/6 - 1
1-248020911-C-A c.363C>A p.G121= Synonymous 1/6 - 1
1-248020911-C-G c.363C>G p.G121= Synonymous 1/6 - 1
1-248020911-C-T c.363C>T p.G121= Synonymous 1/6 - 1
1-248020915-G-A c.367G>A p.E123K Missense 1/6 - 1
1-248020916-A-G c.368A>G p.E123G Missense 1/6 - 1
1-248020919-A-T c.371A>T p.H124L Missense 1/6 - 1
1-248020921-A-T c.373A>T p.R125W Missense 1/6 - 1
1-248020922-G-A c.374G>A p.R125K Missense 1/6 - 1
1-248020925-C-T c.377C>T p.T126M Missense 1/6 - 1
1-248020930-C-T c.382C>T p.R128C Missense 1/6 - 2
1-248020936-G-A c.388G>A p.A130T Missense 1/6 - 1
1-248020937-C-A c.389C>A p.A130E Missense 1/6 - 1
1-248020940-CG-AT c.392_393delinsAT p.P131H Missense 1/6 - 1
1-248020941-G-A c.393G>A p.P131= Synonymous 1/6 - 1
1-248020941-G-C c.393G>C p.P131= Synonymous 1/6 - 1
1-248020941-G-T c.393G>T p.P131= Synonymous 1/6 - 1
1-248020967-A-C c.419A>C p.Q140P Missense 1/6 - 1
1-248023727-C-CACA c.421-189_421-187dup - IntronicInsertion - 1/5 1
1-248023919-GTA-ATG c.421_423delinsATG p.V141M Missense 2/6 - 1
1-248023922-A-C c.424A>C p.K142Q Missense 2/6 - 1
1-248023924-G-C c.426G>C p.K142N Missense 2/6 - 1
1-248023924-G-T c.426G>T p.K142N Missense 2/6 - 1
1-248023925-C-T c.427C>T p.L143F Missense 2/6 - 3
1-248023926-T-C c.428T>C p.L143P Missense 2/6 - 2
1-248023928-C-A c.430C>A p.Q144K Missense 2/6 - 1
1-248023929-A-G c.431A>G p.Q144R Missense 2/6 - 1
1-248023932-T-A c.434T>A p.M145K Missense 2/6 - 1
1-248023934-G-A c.436G>A p.A146T Missense 2/6 - 3
1-248023937-C-G c.439C>G p.L147V Missense 2/6 - 1
1-248023940-G-A c.442G>A p.E148K Missense 2/6 - 4
1-248023942-A-G c.444A>G p.E148= Synonymous 2/6 - 1
1-248023944-T-G c.446T>G p.L149R Missense 2/6 - 2
1-248023946-A-G c.448A>G p.M150V Missense 2/6 - 1
1-248023948-G-A c.450G>A p.M150I Missense 2/6 - 1
1-248023951-G-A c.453G>A p.R151= Synonymous 2/6 - 1
1-248023951-G-T c.453G>T p.R151S Missense 2/6 - 1
1-248023952-A-G c.454A>G p.K152E Missense 2/6 - 1
1-248023955-G-A c.457G>A p.E153K Missense 2/6 - 2
1-248023955-G-T c.457G>T p.E153* Nonsense 2/6 - 1
1-248023963-G-C c.465G>C p.E155D Missense 2/6 - 1
1-248023963-G-T c.465G>T p.E155D Missense 2/6 - 1
1-248023966-C-T c.468C>T p.D156= Synonymous 2/6 - 11
1-248023967-G-T c.469G>T p.A157S Missense 2/6 - 2
1-248023969-C-A c.471C>A p.A157= Synonymous 2/6 - 1
1-248023969-C-G c.471C>G p.A157= Synonymous 2/6 - 1
1-248023969-C-T c.471C>T p.A157= Synonymous 2/6 - 1
1-248023970-T-A c.472T>A p.L158M Missense 2/6 - 1
1-248023972-G-C c.474G>C p.L158F Missense 2/6 - 3
1-248023976-C-A c.478C>A p.Q160K Missense 2/6 - 2
1-248023977-A-G c.479A>G p.Q160R Missense 2/6 - 1
1-248023981-G-A c.483G>A p.E161= Synonymous 2/6 - 2
1-248023982-G-A c.484G>A p.A162T Missense 2/6 - 2
1-248023984-C-A c.486C>A p.A162= Synonymous 2/6 - 1
1-248023984-C-G c.486C>G p.A162= Synonymous 2/6 - 1
1-248023984-C-T c.486C>T p.A162= Synonymous 2/6 - 1
1-248023987-C-T c.489C>T p.N163= Synonymous 2/6 - 5
1-248023988-G-A c.490G>A p.V164M Missense 2/6 - 6
1-248023988-G-C c.490G>C p.V164L Missense 2/6 - 3
1-248023988-G-T c.490G>T p.V164L Missense 2/6 - 5
1-248023989-T-C c.491T>C p.V164A Missense 2/6 - 1
1-248023990-G-A c.492G>A p.V164= Synonymous 2/6 - 1
1-248023990-G-C c.492G>C p.V164= Synonymous 2/6 - 1
1-248023990-G-T c.492G>T p.V164= Synonymous 2/6 - 1
1-248023991-G-A c.493G>A p.G165R Missense 2/6 - 1
1-248023991-G-C c.493G>C p.G165R Missense 2/6 - 1
1-248023991-G-T c.493G>T p.G165W Missense 2/6 - 1
1-248023992-G-A c.494G>A p.G165E Missense 2/6 - 4
1-248023993-G-A c.495G>A p.G165= Synonymous 2/6 - 3
1-248023994-A-G c.496A>G p.K166E Missense 2/6 - 1
1-248023996-A-C c.498A>C p.K166N Missense 2/6 - 5
1-248023997-A-C c.499A>C p.K167Q Missense 2/6 - 1
1-248023998-A-G c.500A>G p.K167R Missense 2/6 - 3
1-248023999-G-C c.501G>C p.K167N Missense 2/6 - 1
1-248023999-G-T c.501G>T p.K167N Missense 2/6 - 2
1-248024000-A-G c.502A>G p.T168A Missense 2/6 - 1
1-248024003-G-C c.505G>C p.V169L Missense 2/6 - 1
1-248024005-C-A c.507C>A p.V169= Synonymous 2/6 - 1
1-248024015-G-A c.516+1G>A - IntronicSNV - 2/5 1
1-248024028-G-A c.516+14G>A - IntronicSNV - 2/5 1
1-248024029-G-T c.516+15G>T - IntronicSNV - 2/5 1
1-248024073-A-C c.516+59A>C - IntronicSNV - 2/5 4
1-248024580-TAC-T c.516+580_516+581del - IntronicDeletion - 2/5 1
1-248025487-T-G c.516+1473T>G - IntronicSNV - 2/5 1
1-248027960-C-T c.517-47C>T - IntronicSNV - 2/5 1
1-248028007-G-A c.517G>A p.E173K Missense 3/6 - 2
1-248028008-A-G c.518A>G p.E173G Missense 3/6 - 1
1-248028009-G-C c.519G>C p.E173D Missense 3/6 - 1
1-248028009-G-T c.519G>T p.E173D Missense 3/6 - 1
1-248028012-A-T c.522A>T p.K174N Missense 3/6 - 1
1-248028013-G-A c.523G>A p.V175M Missense 3/6 - 1
1-248028015-G-T c.525G>T p.V175= Synonymous 3/6 - 1
1-248028016-G-A c.526G>A p.E176K Missense 3/6 - 4
1-248028021-G-A c.531G>A p.M177I Missense 3/6 - 3
1-248028021-G-C c.531G>C p.M177I Missense 3/6 - 1
1-248028021-G-T c.531G>T p.M177I Missense 3/6 - 1
1-248028024-G-T c.534G>T p.Q178H Missense 3/6 - 1
1-248028025-A-T c.535A>T p.R179W Missense 3/6 - 1
1-248028027-G-T c.537G>T p.R179S Missense 3/6 - 1
1-248028028-C-T c.538C>T p.Q180* Nonsense 3/6 - 1
1-248028031-C-T c.541C>T p.R181C Missense 3/6 - 9
1-248028032-G-A c.542G>A p.R181H Missense 3/6 - 8
1-248028032-G-T c.542G>T p.R181L Missense 3/6 - 2
1-248028034-T-A c.544T>A p.F182I Missense 3/6 - 1
1-248028036-C-T c.546C>T p.F182= Synonymous 3/6 - 1
1-248028037-A-C c.547A>C p.R183= Synonymous 3/6 - 1
1-248028039-A-G c.549A>G p.R183= Synonymous 3/6 - 2
1-248028040-T-C c.550T>C p.L184= Synonymous 3/6 - 1
1-248028042-G-A c.552G>A p.L184= Synonymous 3/6 - 1
1-248028043-G-C c.553G>C p.E185Q Missense 3/6 - 3
1-248028049-G-A c.559G>A p.E187K Missense 3/6 - 1
1-248028051-G-C c.561G>C p.E187D Missense 3/6 - 2
1-248028053-A-T c.563A>T p.K188M Missense 3/6 - 1
1-248028055-C-A c.565C>A p.H189N Missense 3/6 - 1
1-248028058-C-A c.568C>A p.R190S Missense 3/6 - 1
1-248028058-C-T c.568C>T p.R190C Missense 3/6 - 4
1-248028059-G-A c.569G>A p.R190H Missense 3/6 - 1
1-248028059-G-C c.569G>C p.R190P Missense 3/6 - 1
1-248028059-G-T c.569G>T p.R190L Missense 3/6 - 2
1-248028061-G-A c.571G>A p.G191S Missense 3/6 - 1
1-248028070-G-T c.580G>T p.A194S Missense 3/6 - 3
1-248028072-C-A c.582C>A p.A194= Synonymous 3/6 - 1
1-248028073-C-A c.583C>A p.Q195K Missense 3/6 - 2
1-248028073-C-T c.583C>T p.Q195* Nonsense 3/6 - 3
1-248028074-A-T c.584A>T p.Q195L Missense 3/6 - 1
1-248028075-G-A c.585G>A p.Q195= Synonymous 3/6 - 2
1-248028076-G-A c.586G>A p.E196K Missense 3/6 - 1
1-248028077-A-G c.587A>G p.E196G Missense 3/6 - 1
1-248028078-G-A c.588G>A p.E196= Synonymous 3/6 - 1
1-248028078-G-T c.588G>T p.E196D Missense 3/6 - 1
1-248028080-A-G c.590A>G p.E197G Missense 3/6 - 2
1-248028084-A-C c.594A>C p.Q198H Missense 3/6 - 1
1-248028084-A-T c.594A>T p.Q198H Missense 3/6 - 1
1-248028085-C-T c.595C>T p.R199W Missense 3/6 - 2
1-248028086-G-A c.596G>A p.R199Q Missense 3/6 - 2
1-248028086-G-T c.596G>T p.R199L Missense 3/6 - 1
1-248028090-G-T c.600G>T p.Q200H Missense 3/6 - 1
1-248028092-T-C c.602T>C p.L201P Missense 3/6 - 1
1-248028091-C-T c.601C>T p.L201= Synonymous 3/6 - 1
1-248028093-G-A c.603G>A p.L201= Synonymous 3/6 - 1
1-248028093-G-C c.603G>C p.L201= Synonymous 3/6 - 1
1-248028093-G-T c.603G>T p.L201= Synonymous 3/6 - 1
1-248028098-G-A c.608G>A p.R203Q Missense 3/6 - 4
1-248028092-TGAGGCGGCTG-T c.610_619del p.L204Rfs*23 Frameshift 3/6 - 2
1-248028101-T-C c.611T>C p.L204P Missense 3/6 - 1
1-248028101-TG-T c.613del p.E205Rfs*25 Frameshift 3/6 - 1
1-248028103-G-T c.613G>T p.E205* Nonsense 3/6 - 1
1-248028105-G-A c.615G>A p.E205= Synonymous 3/6 - 4
1-248028107-C-A c.617C>A p.A206E Missense 3/6 - 1
1-248028107-C-T c.617C>T p.A206V Missense 3/6 - 1
1-248028108-G-A c.618G>A p.A206= Synonymous 3/6 - 3
1-248028108-G-C c.618G>C p.A206= Synonymous 3/6 - 2
1-248028108-G-T c.618G>T p.A206= Synonymous 3/6 - 2
1-248028109-G-A c.619G>A p.E207K Missense 3/6 - 4
1-248028109-G-T c.619G>T p.E207* Nonsense 3/6 - 3
1-248028111-G-A c.621G>A p.E207= Synonymous 3/6 - 1
1-248028111-G-C c.621G>C p.E207D Missense 3/6 - 2
1-248028111-G-T c.621G>T p.E207D Missense 3/6 - 1
1-248028112-G-T c.622G>T p.E208* Nonsense 3/6 - 2
1-248028115-C-A c.625C>A p.R209= Synonymous 3/6 - 1
1-248028115-C-G c.625C>G p.R209G Missense 3/6 - 1
1-248028115-CGA-TGG c.625_627delinsTGG p.R209W Missense 3/6 - 1
1-248028115-C-T c.625C>T p.R209* Nonsense 3/6 - 2
1-248028119-C-A c.629C>A p.A210E Missense 3/6 - 3
1-248028120-G-A c.630G>A p.A210= Synonymous 3/6 - 2
1-248028122-C-T c.632C>T p.T211M Missense 3/6 - 5
1-248028123-G-A c.633G>A p.T211= Synonymous 3/6 - 5
1-248028123-G-C c.633G>C p.T211= Synonymous 3/6 - 3
1-248028123-G-T c.633G>T p.T211= Synonymous 3/6 - 3
1-248028124-C-T c.634C>T p.L212= Synonymous 3/6 - 1
1-248028126-G-A c.636G>A p.L212= Synonymous 3/6 - 1
1-248028126-G-C c.636G>C p.L212= Synonymous 3/6 - 1
1-248028126-G-T c.636G>T p.L212= Synonymous 3/6 - 1
1-248028131-AGAC-A c.641_643del p.R214_L215delinsM MultiAAMissense 3/6 - 3
1-248028131-G-A c.641G>A p.R214K Missense 3/6 - 4
1-248028134-CT-C c.644del p.L215Rfs*15 Frameshift 3/6 - 1
1-248028134-T-C c.644T>C p.L215P Missense 3/6 - 5
1-248028136-C-G c.646C>G p.R216G Missense 3/6 - 1
1-248028136-C-T c.646C>T p.R216W Missense 3/6 - 3
1-248028137-G-C c.647G>C p.R216P Missense 3/6 - 1
1-248028138-G-A c.648G>A p.R216= Synonymous 3/6 - 1
1-248028139-G-A c.649G>A p.E217K Missense 3/6 - 4
1-248028139-G-C c.649G>C p.E217Q Missense 3/6 - 1
1-248028142-A-G c.652A>G p.S218G Missense 3/6 - 1
1-248028142-A-T c.652A>T p.S218C Missense 3/6 - 1
1-248028145-A-C c.655A>C p.K219Q Missense 3/6 - 1
1-248028147-G-C c.657G>C p.K219N Missense 3/6 - 2
1-248028147-G-T c.657G>T p.K219N Missense 3/6 - 2
1-248028152-G-A c.662G>A p.R221Q Missense 3/6 - 2
1-248028152-G-T c.662G>T p.R221L Missense 3/6 - 1
1-248028155-T-A c.665T>A p.L222Q Missense 3/6 - 4
1-248028155-T-C c.665T>C p.L222P Missense 3/6 - 3
1-248028155-TG-CT c.665_666delinsCT p.L222P Missense 3/6 - 1
1-248028156-G-T c.666G>T p.L222= Synonymous 3/6 - 1
1-248028158-T-C c.668T>C p.V223A Missense 3/6 - 1
1-248028160-C-T c.670C>T p.Q224* Nonsense 3/6 - 5
1-248028162-G-A c.672G>A p.Q224= Synonymous 3/6 - 2
1-248028163-C-A c.673C>A p.Q225K Missense 3/6 - 2
1-248028165-G-T c.675G>T p.Q225H Missense 3/6 - 1
1-248028171-G-C c.681G>C p.K227N Missense 3/6 - 2
1-248028171-G-T c.681G>T p.K227N Missense 3/6 - 1
1-248028172-G-A c.682G>A p.A228T Missense 3/6 - 1
1-248028173-C-A c.683C>A p.A228D Missense 3/6 - 3
1-248028175-C-T c.685C>T p.L229= Synonymous 3/6 - 3
1-248028177-G-A c.687G>A p.L229= Synonymous 3/6 - 3
1-248028177-G-C c.687G>C p.L229= Synonymous 3/6 - 1
1-248028177-G-T c.687G>T p.L229= Synonymous 3/6 - 1
1-248028181-G-A c.691G>A p.E231K Missense 3/6 - 1
1-248028181-G-C c.691G>C p.E231Q Missense 3/6 - 2
1-248028181-G-T c.691G>T p.E231* Nonsense 3/6 - 2
1-248028188-C-T c.698C>T p.A233V Missense 3/6 - 4
1-248028189-G-A c.699G>A p.A233= Synonymous 3/6 - 1
1-248028189-G-T c.699G>T p.A233= Synonymous 3/6 - 1
1-248028192-T-A c.702T>A p.D234E Missense 3/6 - 1
1-248028195-G-C c.705G>C p.E235D Missense 3/6 - 1
1-248028195-G-T c.705G>T p.E235D Missense 3/6 - 2
1-248028199-C-G c.709C>G p.Q237E Missense 3/6 - 1
1-248028200-A-G c.710A>G p.Q237R Missense 3/6 - 1
1-248028201-G-A c.711G>A p.Q237= Synonymous 3/6 - 1
1-248028202-G-A c.712G>A p.E238K Missense 3/6 - 3
1-248028204-G-A c.714G>A p.E238= Synonymous 3/6 - 1
1-248028205-AGG-TGT c.715_717delinsTGT p.R239C Missense 3/6 - 1
1-248028214-C-G c.724C>G p.R242G Missense 3/6 - 1
1-248028214-C-T c.724C>T p.R242C Missense 3/6 - 1
1-248028215-G-A c.725G>A p.R242H Missense 3/6 - 1
1-248028216-C-A c.726C>A p.R242= Synonymous 3/6 - 1
1-248028216-C-G c.726C>G p.R242= Synonymous 3/6 - 1
1-248028216-C-T c.726C>T p.R242= Synonymous 3/6 - 2
1-248028217-C-G c.727C>G p.P243A Missense 3/6 - 1
1-248028218-C-T c.728C>T p.P243L Missense 3/6 - 6
1-248028219-G-A c.729G>A p.P243= Synonymous 3/6 - 16
1-248028219-G-C c.729G>C p.P243= Synonymous 3/6 - 2
1-248028219-G-T c.729G>T p.P243= Synonymous 3/6 - 15
1-248028220-G-T c.730G>T p.A244S Missense 3/6 - 1
1-248028222-C-A c.732C>A p.A244= Synonymous 3/6 - 2
1-248028222-C-G c.732C>G p.A244= Synonymous 3/6 - 2
1-248028222-C-T c.732C>T p.A244= Synonymous 3/6 - 2
1-248028232-C-A c.742C>A p.L248M Missense 3/6 - 1
1-248028232-C-T c.742C>T p.L248= Synonymous 3/6 - 1
1-248028237-G-C c.747G>C p.E249D Missense 3/6 - 1
1-248028780-A-C c.747+543A>C - IntronicSNV - 3/5 1
1-248029295-G-A c.747+1058G>A - IntronicSNV - 3/5 1
1-248031147-G-A c.748G>A p.G250S Missense 4/6 - 1
1-248031147-G-T c.748G>T p.G250C Missense 4/6 - 3
1-248031148-G-A c.749G>A p.G250D Missense 4/6 - 2
1-248031151-T-G c.752T>G p.V251G Missense 4/6 - 5
1-248031152-G-C c.753G>C p.V251= Synonymous 4/6 - 1
1-248031153-AG-CA c.754_755delinsCA p.R252Q Missense 4/6 - 1
1-248031154-G-T c.755G>T p.R252I Missense 4/6 - 1
1-248031156-G-A c.757G>A p.G253R Missense 4/6 - 1
1-248031156-G-C c.757G>C p.G253R Missense 4/6 - 1
1-248031157-G-A c.758G>A p.G253E Missense 4/6 - 2
1-248031159-G-A c.760G>A p.V254I Missense 4/6 - 1
1-248031161-C-A c.762C>A p.V254= Synonymous 4/6 - 1
1-248031161-CC-AA c.762_763delinsAA p.L255M Missense 4/6 - 1
1-248031162-C-A c.763C>A p.L255M Missense 4/6 - 2
1-248031169-G-T c.770G>T p.R257I Missense 4/6 - 1
1-248031274-T-A c.780T>A p.A260= Synonymous 5/6 - 1
1-248031274-T-C c.780T>C p.A260= Synonymous 5/6 - 1
1-248031274-T-G c.780T>G p.A260= Synonymous 5/6 - 2
1-248031279-C-A c.785C>A p.T262K Missense 5/6 - 2
1-248031280-A-AT c.786_787insT p.R263* Nonsense 5/6 - 1
1-248031282-G-A c.788G>A p.R263K Missense 5/6 - 1
1-248031284-C-A c.790C>A p.L264M Missense 5/6 - 1
1-248031287-G-T c.793G>T p.E265* Nonsense 5/6 - 1
1-248031288-A-G c.794A>G p.E265G Missense 5/6 - 2
1-248031290-G-T c.796G>T p.A266S Missense 5/6 - 2
1-248031300-T-C c.806T>C p.I269T Missense 5/6 - 1
1-248031301-C-T c.807C>T p.I269= Synonymous 5/6 - 1
1-248031302-C-A c.808C>A p.P270T Missense 5/6 - 1
1-248031303-C-T c.809C>T p.P270L Missense 5/6 - 1
1-248031304-C-T c.810C>T p.P270= Synonymous 5/6 - 1
1-248031307-G-A c.813G>A p.M271I Missense 5/6 - 6
1-248031307-G-C c.813G>C p.M271I Missense 5/6 - 1
1-248031307-G-T c.813G>T p.M271I Missense 5/6 - 1
1-248031308-G-A c.814G>A p.E272K Missense 5/6 - 1
1-248031311-C-A c.817C>A p.L273M Missense 5/6 - 1
1-248031315-A-C c.821A>C p.K274T Missense 5/6 - 1
1-248031316-G-A c.822G>A p.K274= Synonymous 5/6 - 1
1-248031319-A-T c.825A>T p.T275= Synonymous 5/6 - 1
1-248031320-G-A c.826G>A p.A276T Missense 5/6 - 3
1-248031320-G-T c.826G>T p.A276S Missense 5/6 - 1
1-248031324-G-A c.830G>A p.C277Y Missense 5/6 - 1
1-248031325-C-A c.831C>A p.C277* Nonsense 5/6 - 1
1-248031326-T-C c.832T>C p.C278R Missense 5/6 - 1
1-248031327-G-A c.833G>A p.C278Y Missense 5/6 - 1
1-248031328-C-G c.834C>G p.C278W Missense 5/6 - 1
1-248031328-C-T c.834C>T p.C278= Synonymous 5/6 - 4
1-248031332-C-A c.838C>A p.P280T Missense 5/6 - 1
1-248031333-C-A c.839C>A p.P280H Missense 5/6 - 2
1-248031333-C-T c.839C>T p.P280L Missense 5/6 - 2
1-248031335-GGG-AGC c.841_843delinsAGC p.G281S Missense 5/6 - 1
1-248031335-G-T c.841G>T p.G281W Missense 5/6 - 1
1-248031336-G-A c.842G>A p.G281E Missense 5/6 - 5
1-248031337-G-A c.843G>A p.G281= Synonymous 5/6 - 2
1-248031338-A-T c.844A>T p.R282W Missense 5/6 - 2
1-248031339-G-A c.845G>A p.R282K Missense 5/6 - 2
1-248031343-G-A c.849G>A p.R283= Synonymous 5/6 - 1
1-248031344-G-A c.850G>A p.E284K Missense 5/6 - 3
1-248031344-G-T c.850G>T p.E284* Nonsense 5/6 - 1
1-248031347-C-T c.853C>T p.L285F Missense 5/6 - 3
1-248031350-T-C c.856T>C p.L286= Synonymous 5/6 - 1
1-248031352-A-G c.858A>G p.L286= Synonymous 5/6 - 1
1-248031351-T-A c.857T>A p.L286* Nonsense 5/6 - 1
1-248031353-A-G c.859A>G p.R287G Missense 5/6 - 1
1-248031355-G-A c.861G>A p.R287= Synonymous 5/6 - 3
1-248031358-G-A c.864G>A p.K288= Synonymous 5/6 - 1
1-248031358-G-C c.864G>C p.K288N Missense 5/6 - 1
1-248031358-G-T c.864G>T p.K288N Missense 5/6 - 1
1-248031359-T-C c.865T>C p.F289L Missense 5/6 - 4
1-248031365-G-C c.871G>C p.V291L Missense 5/6 - 1
1-248031365-G-T c.871G>T p.V291L Missense 5/6 - 2
1-248032614-TG-T c.871+1258del - IntronicDeletion - 5/5 1
1-248034301-T-G c.871+2936T>G - IntronicSNV - 5/5 1
1-248038119-C-T c.872-1083C>T - IntronicSNV - 5/5 2
1-248038325-T-C c.872-877T>C - IntronicSNV - 5/5 1
1-248039202-T-G c.872T>G p.V291G Missense 6/6 - 1
1-248039204-G-A c.874G>A p.D292N Missense 6/6 - 2
1-248039211-A-G c.881A>G p.K294R Missense 6/6 - 1
1-248039212-G-A c.882G>A p.K294= Synonymous 6/6 - 1
1-248039212-G-C c.882G>C p.K294N Missense 6/6 - 1
1-248039212-G-T c.882G>T p.K294N Missense 6/6 - 1
1-248039213-C-T c.883C>T p.L295= Synonymous 6/6 - 1
1-248039215-G-A c.885G>A p.L295= Synonymous 6/6 - 1
1-248039215-G-C c.885G>C p.L295= Synonymous 6/6 - 1
1-248039215-G-T c.885G>T p.L295= Synonymous 6/6 - 1
1-248039216-G-C c.886G>C p.D296H Missense 6/6 - 1
1-248039216-G-T c.886G>T p.D296Y Missense 6/6 - 3
1-248039218-T-C c.888T>C p.D296= Synonymous 6/6 - 1
1-248039219-C-A c.889C>A p.P297T Missense 6/6 - 1
1-248039219-C-T c.889C>T p.P297S Missense 6/6 - 2
1-248039220-C-T c.890C>T p.P297L Missense 6/6 - 1
1-248039221-C-A c.891C>A p.P297= Synonymous 6/6 - 3
1-248039221-C-G c.891C>G p.P297= Synonymous 6/6 - 3
1-248039221-C-T c.891C>T p.P297= Synonymous 6/6 - 4
1-248039222-G-A c.892G>A p.A298T Missense 6/6 - 2
1-248039223-C-A c.893C>A p.A298D Missense 6/6 - 1
1-248039223-C-T c.893C>T p.A298V Missense 6/6 - 1
1-248039226-C-T c.896C>T p.T299M Missense 6/6 - 6
1-248039228-G-T c.898G>T p.A300S Missense 6/6 - 2
1-248039229-C-A c.899C>A p.A300E Missense 6/6 - 2
1-248039229-C-T c.899C>T p.A300V Missense 6/6 - 6
1-248039232-A-C c.902A>C p.H301P Missense 6/6 - 1
1-248039232-A-T c.902A>T p.H301L Missense 6/6 - 1
1-248039235-C-G c.905C>G p.P302R Missense 6/6 - 1
1-248039235-C-T c.905C>T p.P302L Missense 6/6 - 4
1-248039236-G-A c.906G>A p.P302= Synonymous 6/6 - 6
1-248039236-G-C c.906G>C p.P302= Synonymous 6/6 - 2
1-248039236-G-T c.906G>T p.P302= Synonymous 6/6 - 2
1-248039238-G-A c.908G>A p.S303N Missense 6/6 - 1
1-248039238-G-T c.908G>T p.S303I Missense 6/6 - 3
1-248039245-C-A c.915C>A p.L305= Synonymous 6/6 - 1
1-248039245-C-G c.915C>G p.L305= Synonymous 6/6 - 1
1-248039245-C-T c.915C>T p.L305= Synonymous 6/6 - 3
1-248039249-A-T c.919A>T p.T307S Missense 6/6 - 2
1-248039250-C-G c.920C>G p.T307S Missense 6/6 - 1
1-248039251-C-A c.921C>A p.T307= Synonymous 6/6 - 1
1-248039251-C-G c.921C>G p.T307= Synonymous 6/6 - 1
1-248039251-C-T c.921C>T p.T307= Synonymous 6/6 - 1
1-248039252-G-A c.922G>A p.A308T Missense 6/6 - 8
1-248039253-C-A c.923C>A p.A308D Missense 6/6 - 1
1-248039254-C-A c.924C>A p.A308= Synonymous 6/6 - 1
1-248039254-C-G c.924C>G p.A308= Synonymous 6/6 - 1
1-248039254-C-T c.924C>T p.A308= Synonymous 6/6 - 2
1-248039255-G-A c.925G>A p.D309N Missense 6/6 - 6
1-248039255-G-T c.925G>T p.D309Y Missense 6/6 - 1
1-248039261-C-G c.931C>G p.R311G Missense 6/6 - 1
1-248039261-C-T c.931C>T p.R311C Missense 6/6 - 5
1-248039262-G-A c.932G>A p.R311H Missense 6/6 - 3
1-248039262-G-T c.932G>T p.R311L Missense 6/6 - 4
1-248039263-C-A c.933C>A p.R311= Synonymous 6/6 - 1
1-248039263-C-G c.933C>G p.R311= Synonymous 6/6 - 1
1-248039263-C-T c.933C>T p.R311= Synonymous 6/6 - 2
1-248039273-G-A c.943G>A p.D315N Missense 6/6 - 2
1-248039277-G-C c.947G>C p.G316A Missense 6/6 - 2
1-248039279-G-A c.949G>A p.E317K Missense 6/6 - 1
1-248039279-GA-AC c.949_950delinsAC p.E317T Missense 6/6 - 1
1-248039283-C-T c.953C>T p.P318L Missense 6/6 - 3
1-248039284-A-C c.954A>C p.P318= Synonymous 6/6 - 1
1-248039284-A-G c.954A>G p.P318= Synonymous 6/6 - 1
1-248039284-A-T c.954A>T p.P318= Synonymous 6/6 - 1
1-248039286-G-A c.956G>A p.W319* Nonsense 6/6 - 1
1-248039287-G-A c.957G>A p.W319* Nonsense 6/6 - 3
1-248039288-A-G c.958A>G p.R320G Missense 6/6 - 1
1-248039289-G-A c.959G>A p.R320K Missense 6/6 - 1
1-248039289-G-T c.959G>T p.R320M Missense 6/6 - 1
1-248039290-G-T c.960G>T p.R320S Missense 6/6 - 1
1-248039291-G-A c.961G>A p.D321N Missense 6/6 - 3
1-248039293-T-A c.963T>A p.D321E Missense 6/6 - 1
1-248039294-G-A c.964G>A p.V322I Missense 6/6 - 19
1-248039294-GTC-ATG c.964_966delinsATG p.V322M Missense 6/6 - 1
1-248039295-T-A c.965T>A p.V322D Missense 6/6 - 1
1-248039296-C-A c.966C>A p.V322= Synonymous 6/6 - 3
1-248039296-C-G c.966C>G p.V322= Synonymous 6/6 - 3
1-248039296-C-T c.966C>T p.V322= Synonymous 6/6 - 5
1-248039299-C-A c.969C>A p.P323= Synonymous 6/6 - 1
1-248039299-C-G c.969C>G p.P323= Synonymous 6/6 - 1
1-248039299-C-T c.969C>T p.P323= Synonymous 6/6 - 1
1-248039301-A-T c.971A>T p.N324I Missense 6/6 - 3
1-248039304-A-C c.974A>C p.N325T Missense 6/6 - 1
1-248039305-C-T c.975C>T p.N325= Synonymous 6/6 - 1
1-248039307-C-A c.977C>A p.P326H Missense 6/6 - 1
1-248039310-A-G c.980A>G p.E327G Missense 6/6 - 1
1-248039312-C-T c.982C>T p.R328* Nonsense 6/6 - 1
1-248039313-G-A c.983G>A p.R328Q Missense 6/6 - 11
1-248039321-A-T c.991A>T p.T331S Missense 6/6 - 1
1-248039323-A-C c.993A>C p.T331= Synonymous 6/6 - 1
1-248039323-A-G c.993A>G p.T331= Synonymous 6/6 - 1
1-248039323-A-T c.993A>T p.T331= Synonymous 6/6 - 1
1-248039325-G-T c.995G>T p.W332L Missense 6/6 - 1
1-248039327-C-T c.997C>T p.P333S Missense 6/6 - 1
1-248039328-C-T c.998C>T p.P333L Missense 6/6 - 2
1-248039331-G-T c.1001G>T p.C334F Missense 6/6 - 1
1-248039335-C-T c.1005C>T p.I335= Synonymous 6/6 - 1
1-248039347-G-C c.1017G>C p.Q339H Missense 6/6 - 1
1-248039347-G-T c.1017G>T p.Q339H Missense 6/6 - 1
1-248039350-C-A c.1020C>A p.S340R Missense 6/6 - 1
1-248039350-C-T c.1020C>T p.S340= Synonymous 6/6 - 1
1-248039351-T-G c.1021T>G p.F341V Missense 6/6 - 1
1-248039358-CA-AT c.1028_1029delinsAT p.S343Y Missense 6/6 - 1
1-248039358-C-T c.1028C>T p.S343L Missense 6/6 - 4
1-248039360-G-T c.1030G>T p.G344W Missense 6/6 - 1
1-248039361-G-A c.1031G>A p.G344E Missense 6/6 - 4
1-248039361-G-T c.1031G>T p.G344V Missense 6/6 - 2
1-248039365-G-C c.1035G>C p.R345S Missense 6/6 - 1
1-248039365-G-T c.1035G>T p.R345S Missense 6/6 - 1
1-248039368-T-C c.1038T>C p.H346= Synonymous 6/6 - 1
1-248039374-G-C c.1044G>C p.W348C Missense 6/6 - 3
1-248039374-G-T c.1044G>T p.W348C Missense 6/6 - 2
1-248039376-A-T c.1046A>T p.E349V Missense 6/6 - 1
1-248039385-T-G c.1055T>G p.V352G Missense 6/6 - 1
1-248039386-G-A c.1056G>A p.V352= Synonymous 6/6 - 2
1-248039386-G-C c.1056G>C p.V352= Synonymous 6/6 - 1
1-248039386-G-T c.1056G>T p.V352= Synonymous 6/6 - 2
1-248039387-G-A c.1057G>A p.G353R Missense 6/6 - 4
1-248039387-G-C c.1057G>C p.G353R Missense 6/6 - 4
1-248039388-G-A c.1058G>A p.G353E Missense 6/6 - 11
1-248039390-G-A c.1060G>A p.E354K Missense 6/6 - 2
1-248039392-A-C c.1062A>C p.E354D Missense 6/6 - 2
1-248039392-A-T c.1062A>T p.E354D Missense 6/6 - 3
1-248039393-G-A c.1063G>A p.G355R Missense 6/6 - 2
1-248039393-G-C c.1063G>C p.G355R Missense 6/6 - 2
1-248039394-G-A c.1064G>A p.G355E Missense 6/6 - 2
1-248039394-G-T c.1064G>T p.G355V Missense 6/6 - 3
1-248039396-G-T c.1066G>T p.A356S Missense 6/6 - 1
1-248039399-G-A c.1069G>A p.E357K Missense 6/6 - 3
1-248039399-G-T c.1069G>T p.E357* Nonsense 6/6 - 1
1-248039400-A-G c.1070A>G p.E357G Missense 6/6 - 1
1-248039402-T-A c.1072T>A p.W358R Missense 6/6 - 1
1-248039402-T-C c.1072T>C p.W358R Missense 6/6 - 1
1-248039403-G-A c.1073G>A p.W358* Nonsense 6/6 - 4
1-248039403-G-T c.1073G>T p.W358L Missense 6/6 - 1
1-248039404-G-A c.1074G>A p.W358* Nonsense 6/6 - 7
1-248039404-G-C c.1074G>C p.W358C Missense 6/6 - 3
1-248039404-G-T c.1074G>T p.W358C Missense 6/6 - 2
1-248039405-G-A c.1075G>A p.G359S Missense 6/6 - 1
1-248039405-G-T c.1075G>T p.G359C Missense 6/6 - 2
1-248039411-G-A c.1081G>A p.G361R Missense 6/6 - 1
1-248039411-G-C c.1081G>C p.G361R Missense 6/6 - 1
1-248039412-G-A c.1082G>A p.G361E Missense 6/6 - 8
1-248039413-G-A c.1083G>A p.G361= Synonymous 6/6 - 1
1-248039413-G-C c.1083G>C p.G361= Synonymous 6/6 - 1
1-248039413-G-T c.1083G>T p.G361= Synonymous 6/6 - 1
1-248039414-G-T c.1084G>T p.V362F Missense 6/6 - 3
1-248039416-C-A c.1086C>A p.V362= Synonymous 6/6 - 3
1-248039416-C-G c.1086C>G p.V362= Synonymous 6/6 - 2
1-248039416-C-T c.1086C>T p.V362= Synonymous 6/6 - 4
1-248039417-T-C c.1087T>C p.C363R Missense 6/6 - 1
1-248039420-C-T c.1090C>T p.Q364* Nonsense 6/6 - 1
1-248039423-G-T c.1093G>T p.D365Y Missense 6/6 - 1
1-248039429-C-T c.1099C>T p.L367= Synonymous 6/6 - 1
1-248039433-C-A c.1103C>A p.P368Q Missense 6/6 - 3
1-248039438-A-T c.1108A>T p.K370* Nonsense 6/6 - 2
1-248039439-A-G c.1109A>G p.K370R Missense 6/6 - 3
1-248039440-G-C c.1110G>C p.K370N Missense 6/6 - 1
1-248039440-G-T c.1110G>T p.K370N Missense 6/6 - 1
1-248039441-G-A c.1111G>A p.G371R Missense 6/6 - 9
1-248039441-G-C c.1111G>C p.G371R Missense 6/6 - 3
1-248039443-G-A c.1113G>A p.G371= Synonymous 6/6 - 5
1-248039443-G-C c.1113G>C p.G371= Synonymous 6/6 - 1
1-248039443-G-T c.1113G>T p.G371= Synonymous 6/6 - 1
1-248039444-G-A c.1114G>A p.E372K Missense 6/6 - 9
1-248039447-A-T c.1117A>T p.T373S Missense 6/6 - 1
1-248039448-C-G c.1118C>G p.T373S Missense 6/6 - 1
1-248039448-C-T c.1118C>T p.T373I Missense 6/6 - 3
1-248039449-C-A c.1119C>A p.T373= Synonymous 6/6 - 2
1-248039449-C-G c.1119C>G p.T373= Synonymous 6/6 - 1
1-248039449-C-T c.1119C>T p.T373= Synonymous 6/6 - 2
1-248039450-A-G c.1120A>G p.T374A Missense 6/6 - 1
1-248039451-C-T c.1121C>T p.T374M Missense 6/6 - 46
1-248039452-G-A c.1122G>A p.T374= Synonymous 6/6 - 6
1-248039452-G-C c.1122G>C p.T374= Synonymous 6/6 - 5
1-248039452-G-T c.1122G>T p.T374= Synonymous 6/6 - 5
1-248039454-C-A c.1124C>A p.P375Q Missense 6/6 - 2
1-248039454-C-T c.1124C>T p.P375L Missense 6/6 - 1
1-248039457-C-T c.1127C>T p.S376F Missense 6/6 - 1
1-248039459-C-T c.1129C>T p.P377S Missense 6/6 - 3
1-248039460-C-T c.1130C>T p.P377L Missense 6/6 - 5
1-248039461-T-A c.1131T>A p.P377= Synonymous 6/6 - 1
1-248039461-T-C c.1131T>C p.P377= Synonymous 6/6 - 1
1-248039461-T-G c.1131T>G p.P377= Synonymous 6/6 - 1
1-248039462-G-A c.1132G>A p.E378K Missense 6/6 - 1
1-248039463-A-C c.1133A>C p.E378A Missense 6/6 - 2
1-248039464-G-A c.1134G>A p.E378= Synonymous 6/6 - 1
1-248039468-G-A c.1138G>A p.G380R Missense 6/6 - 2
1-248039469-G-C c.1139G>C p.G380A Missense 6/6 - 1
1-248039469-G-T c.1139G>T p.G380V Missense 6/6 - 1
1-248039470-G-A c.1140G>A p.G380= Synonymous 6/6 - 1
1-248039471-GTC-ATG c.1141_1143delinsATG p.V381M Missense 6/6 - 1
1-248039476-G-T c.1146G>T p.W382C Missense 6/6 - 1
1-248039478-C-A c.1148C>A p.A383D Missense 6/6 - 2
1-248039480-C-T c.1150C>T p.L384= Synonymous 6/6 - 1
1-248039481-T-C c.1151T>C p.L384P Missense 6/6 - 1
1-248039484-G-A c.1154G>A p.W385* Nonsense 6/6 - 1
1-248039484-G-T c.1154G>T p.W385L Missense 6/6 - 6
1-248039487-T-A c.1157T>A p.L386Q Missense 6/6 - 1
1-248039489-C-G c.1159C>G p.L387V Missense 6/6 - 1
1-248039491-G-A c.1161G>A p.L387= Synonymous 6/6 - 1
1-248039491-G-T c.1161G>T p.L387= Synonymous 6/6 - 1
1-248039495-G-A c.1165G>A p.G389R Missense 6/6 - 1
1-248039495-G-C c.1165G>C p.G389R Missense 6/6 - 1
1-248039496-G-A c.1166G>A p.G389E Missense 6/6 - 4
1-248039497-G-A c.1167G>A p.G389= Synonymous 6/6 - 1
1-248039501-G-A c.1171G>A p.E391K Missense 6/6 - 2
1-248039501-G-T c.1171G>T p.E391* Nonsense 6/6 - 3
1-248039506-C-A c.1176C>A p.Y392* Nonsense 6/6 - 1
1-248039507-A-C c.1177A>C p.M393L Missense 6/6 - 1
1-248039507-A-T c.1177A>T p.M393L Missense 6/6 - 1
1-248039512-C-T c.1182C>T p.V394= Synonymous 6/6 - 1
1-248039513-C-T c.1183C>T p.L395F Missense 6/6 - 5
1-248039516-G-A c.1186G>A p.A396T Missense 6/6 - 1
1-248039517-C-A c.1187C>A p.A396D Missense 6/6 - 1
1-248039517-C-T c.1187C>T p.A396V Missense 6/6 - 5
1-248039520-C-A c.1190C>A p.S397Y Missense 6/6 - 1
1-248039522-C-T c.1192C>T p.P398S Missense 6/6 - 2
1-248039523-C-A c.1193C>A p.P398Q Missense 6/6 - 1
1-248039526-C-T c.1196C>T p.S399L Missense 6/6 - 1
1-248039531-C-A c.1201C>A p.P401T Missense 6/6 - 1
1-248039531-C-G c.1201C>G p.P401A Missense 6/6 - 1
1-248039531-C-T c.1201C>T p.P401S Missense 6/6 - 1
1-248039534-C-G c.1204C>G p.L402V Missense 6/6 - 1
1-248039535-CTT-C c.1205_1206del p.L402Pfs*16 Frameshift 6/6 - 1
1-248039540-C-T c.1210C>T p.Q404* Nonsense 6/6 - 3
1-248039543-CTG-ATC c.1213_1215delinsATC p.L405I Missense 6/6 - 1
1-248039546-G-A c.1216G>A p.E406K Missense 6/6 - 4
1-248039546-G-T c.1216G>T p.E406* Nonsense 6/6 - 1
1-248039547-A-G c.1217A>G p.E406G Missense 6/6 - 1
1-248039548-A-C c.1218A>C p.E406D Missense 6/6 - 2
1-248039548-A-T c.1218A>T p.E406D Missense 6/6 - 1
1-248039550-G-A c.1220G>A p.S407N Missense 6/6 - 1
1-248039552-C-G c.1222C>G p.P408A Missense 6/6 - 1
1-248039553-C-T c.1223C>T p.P408L Missense 6/6 - 1
1-248039555-C-G c.1225C>G p.R409G Missense 6/6 - 2
1-248039555-C-T c.1225C>T p.R409C Missense 6/6 - 1
1-248039556-G-A c.1226G>A p.R409H Missense 6/6 - 2
1-248039556-G-T c.1226G>T p.R409L Missense 6/6 - 4
1-248039559-G-A c.1229G>A p.C410Y Missense 6/6 - 1
1-248039562-T-C c.1232T>C p.I411T Missense 6/6 - 1
1-248039564-G-A c.1234G>A p.G412R Missense 6/6 - 1
1-248039564-G-C c.1234G>C p.G412R Missense 6/6 - 1
1-248039565-G-A c.1235G>A p.G412E Missense 6/6 - 4
1-248039566-G-A c.1236G>A p.G412= Synonymous 6/6 - 1
1-248039566-G-C c.1236G>C p.G412= Synonymous 6/6 - 1
1-248039566-G-T c.1236G>T p.G412= Synonymous 6/6 - 1
1-248039567-A-G c.1237A>G p.I413V Missense 6/6 - 1
1-248039567-A-T c.1237A>T p.I413F Missense 6/6 - 1
1-248039569-T-G c.1239T>G p.I413M Missense 6/6 - 5
1-248039571-T-A c.1241T>A p.F414Y Missense 6/6 - 1
1-248039573-T-C c.1243T>C p.L415= Synonymous 6/6 - 1
1-248039575-G-A c.1245G>A p.L415= Synonymous 6/6 - 4
1-248039575-G-C c.1245G>C p.L415F Missense 6/6 - 1
1-248039575-G-T c.1245G>T p.L415F Missense 6/6 - 1
1-248039576-G-T c.1246G>T p.D416Y Missense 6/6 - 3
1-248039577-A-T c.1247A>T p.D416V Missense 6/6 - 1
1-248039582-G-A c.1252G>A p.E418K Missense 6/6 - 2
1-248039582-G-T c.1252G>T p.E418* Nonsense 6/6 - 1
1-248039584-A-T c.1254A>T p.E418D Missense 6/6 - 1
1-248039585-G-C c.1255G>C p.A419P Missense 6/6 - 1
1-248039588-G-A c.1258G>A p.G420S Missense 6/6 - 3
1-248039589-G-C c.1259G>C p.G420A Missense 6/6 - 1
1-248039589-G-T c.1259G>T p.G420V Missense 6/6 - 2
1-248039591-G-A c.1261G>A p.E421K Missense 6/6 - 3
1-248039598-C-T c.1268C>T p.S423L Missense 6/6 - 9
1-248039603-T-C c.1273T>C p.Y425H Missense 6/6 - 1
1-248039604-A-G c.1274A>G p.Y425C Missense 6/6 - 1
1-248039604-A-T c.1274A>T p.Y425F Missense 6/6 - 1
1-248039605-C-A c.1275C>A p.Y425* Nonsense 6/6 - 1
1-248039615-G-A c.1285G>A p.D429N Missense 6/6 - 5
1-248039617-T-C c.1287T>C p.D429= Synonymous 6/6 - 1
1-248039618-G-A c.1288G>A p.G430R Missense 6/6 - 1
1-248039618-G-C c.1288G>C p.G430R Missense 6/6 - 1
1-248039618-G-T c.1288G>T p.G430* Nonsense 6/6 - 2
1-248039619-G-A c.1289G>A p.G430E Missense 6/6 - 2
1-248039627-A-T c.1297A>T p.I433F Missense 6/6 - 1
1-248039632-C-A c.1302C>A p.Y434* Nonsense 6/6 - 3
1-248039632-C-G c.1302C>G p.Y434* Nonsense 6/6 - 4
1-248039634-CA-TG c.1304_1305inv p.T435M Missense 6/6 - 1
1-248039638-C-T c.1308C>T p.F436= Synonymous 6/6 - 2
1-248039642-C-T c.1312C>T p.Q438* Nonsense 6/6 - 1
1-248039645-C-A c.1315C>A p.L439I Missense 6/6 - 5
1-248039647-C-T c.1317C>T p.L439= Synonymous 6/6 - 3
1-248039649-T-G c.1319T>G p.F440C Missense 6/6 - 1
1-248039652-TC-T c.1322del p.S441Lfs*23 Frameshift 6/6 - 1
1-248039654-G-T c.1324G>T p.G442C Missense 6/6 - 1
1-248039659-T-C c.1329T>C p.L443= Synonymous 6/6 - 1
1-248039660-C-T c.1330C>T p.L444F Missense 6/6 - 1
1-248039661-T-A c.1331T>A p.L444H Missense 6/6 - 1
1-248039663-C-T c.1333C>T p.R445W Missense 6/6 - 1
1-248039664-G-A c.1334G>A p.R445Q Missense 6/6 - 1
1-248039670-A-C c.1340A>C p.Y447S Missense 6/6 - 3
1-248039670-A-G c.1340A>G p.Y447C Missense 6/6 - 3
1-248039671-C-A c.1341C>A p.Y447* Nonsense 6/6 - 1
1-248039676-T-C c.1346T>C p.F449S Missense 6/6 - 1
1-248039677-C-T c.1347C>T p.F449= Synonymous 6/6 - 5
1-248039679-T-C c.1349T>C p.I450T Missense 6/6 - 1
1-248039680-C-A c.1350C>A p.I450= Synonymous 6/6 - 1
1-248039680-C-T c.1350C>T p.I450= Synonymous 6/6 - 1
1-248039681-T-C c.1351T>C p.C451R Missense 6/6 - 1
1-248039684-G-A c.1354G>A p.D452N Missense 6/6 - 1
1-248039685-A-G c.1355A>G p.D452G Missense 6/6 - 1
1-248039688-CA-AC c.1358_1359delinsAC p.A453D Missense 6/6 - 1
1-248039690-A-G c.1360A>G p.T454A Missense 6/6 - 1
1-248039693-C-T c.1363C>T p.P455S Missense 6/6 - 1
1-248039696-C-G c.1366C>G p.L456V Missense 6/6 - 1
1-248039696-C-T c.1366C>T p.L456F Missense 6/6 - 4
1-248039696-CT-AG c.1366_1367inv p.L456S Missense 6/6 - 1
1-248039697-T-C c.1367T>C p.L456P Missense 6/6 - 1
1-248039697-T-G c.1367T>G p.L456R Missense 6/6 - 1
1-248039699-A-T c.1369A>T p.I457F Missense 6/6 - 1
1-248039700-T-C c.1370T>C p.I457T Missense 6/6 - 1
1-248039701-C-T c.1371C>T p.I457= Synonymous 6/6 - 3
1-248039702-T-A c.1372T>A p.L458M Missense 6/6 - 1
1-248039702-T-C c.1372T>C p.L458= Synonymous 6/6 - 1
1-248039702-T-G c.1372T>G p.L458V Missense 6/6 - 3
1-248039703-T-G c.1373T>G p.L458W Missense 6/6 - 1
1-248039704-G-A c.1374G>A p.L458= Synonymous 6/6 - 2
1-248039705-C-T c.1375C>T p.P459S Missense 6/6 - 1
1-248039706-C-T c.1376C>T p.P459L Missense 6/6 - 2
1-248039710-C-T c.1380C>T p.P460= Synonymous 6/6 - 1
1-248039712-C-T c.1382C>T p.T461I Missense 6/6 - 2
1-248039713-A-C c.1383A>C p.T461= Synonymous 6/6 - 11
1-248039713-A-G c.1383A>G p.T461= Synonymous 6/6 - 17
1-248039717-A-G c.1387A>G p.I463V Missense 6/6 - 2
1-248039719-A-G c.1389A>G p.I463M Missense 6/6 - 1
1-248039721-C-T c.1391C>T p.A464V Missense 6/6 - 3
1-248039722-A-AAT c.1392_1393insAT p.G465Mfs*12 Frameshift 6/6 - 1
1-248039723-G-A c.1393G>A p.G465R Missense 6/6 - 2
1-248039724-G-T c.1394G>T p.G465V Missense 6/6 - 1
1-248039727-C-A c.1397C>A p.S466* Nonsense 6/6 - 1
1-248039730-G-A c.1400G>A p.G467E Missense 6/6 - 16
1-248039733-A-G c.1403A>G p.N468S Missense 6/6 - 4
1-248039734-T-A c.1404T>A p.N468K Missense 6/6 - 3
1-248039735-T-A c.1405T>A p.W469R Missense 6/6 - 2
1-248039735-T-C c.1405T>C p.W469R Missense 6/6 - 1
1-248039736-G-A c.1406G>A p.W469* Nonsense 6/6 - 1
1-248039737-G-A c.1407G>A p.W469* Nonsense 6/6 - 1
1-248039738-G-A c.1408G>A p.A470T Missense 6/6 - 1
1-248039742-C-A c.1412C>A p.S471Y Missense 6/6 - 4
1-248039742-C-T c.1412C>T p.S471F Missense 6/6 - 5
1-248039745-G-T c.1415G>T p.R472M Missense 6/6 - 1
1-248039747-G-A c.1417G>A p.D473N Missense 6/6 - 4
1-248039748-A-G c.1418A>G p.D473G Missense 6/6 - 1
1-248039749-T-C c.1419T>C p.D473= Synonymous 6/6 - 2
1-248039750-C-T c.1420C>T p.H474Y Missense 6/6 - 7
1-248039753-T-C c.1423T>C p.L475= Synonymous 6/6 - 1
1-248039754-T-A c.1424T>A p.L475* Nonsense 6/6 - 1
1-248039754-T-G c.1424T>G p.L475* Nonsense 6/6 - 1
1-248039756-G-A c.1426G>A p.D476N Missense 6/6 - 1
1-248039759-C-T c.1429C>T p.P477S Missense 6/6 - 9
1-248039760-C-G c.1430C>G p.P477R Missense 6/6 - 1
1-248039760-C-T c.1430C>T p.P477L Missense 6/6 - 2
1-248039762-G-A c.1432G>A p.A478T Missense 6/6 - 1
1-248039762-G-T c.1432G>T p.A478S Missense 6/6 - 1
1-248039764-T-A c.1434T>A p.A478= Synonymous 6/6 - 1
1-248039764-T-C c.1434T>C p.A478= Synonymous 6/6 - 1
1-248039764-T-G c.1434T>G p.A478= Synonymous 6/6 - 1
1-248039766-C-T c.1436C>T p.S479F Missense 6/6 - 1
1-248039768-G-A c.1438G>A p.D480N Missense 6/6 - 6
1-248039768-G-T c.1438G>T p.D480Y Missense 6/6 - 1
1-248039771-G-A c.1441G>A p.V481I Missense 6/6 - 1
1-248039771-G-C c.1441G>C p.V481L Missense 6/6 - 3
1-248039771-G-T c.1441G>T p.V481L Missense 6/6 - 1
1-248039772-T-C c.1442T>C p.V481A Missense 6/6 - 5
1-248039773-A-C c.1443A>C p.V481= Synonymous 6/6 - 1
1-248039774-A-G c.1444A>G p.R482G Missense 6/6 - 4
1-248039775-G-A c.1445G>A p.R482K Missense 6/6 - 1
1-248039777-G-T c.1447G>T p.D483Y Missense 6/6 - 3
1-248039780-G-A c.1450G>A p.D484N Missense 6/6 - 1
1-248039782-T-A c.1452T>A p.D484E Missense 6/6 - 1
1-248039782-T-G c.1452T>G p.D484E Missense 6/6 - 1
1-248039783-C-T c.1453C>T p.H485Y Missense 6/6 - 3
1-248039784-A-T c.1454A>T p.H485L Missense 6/6 - 5
1-248039789-T-C c.1459T>C p.*487Qext*9 Missense 6/6 - 7
1-248040018-A-G c.*227A>G - 3-UTRSNV 6/6 - 2
1-248040018-A-T c.*227A>T - 3-UTRSNV 6/6 - 2
1-248040104-C-T c.*313C>T - 3-UTRSNV 6/6 - 1
1-248040293-T-C c.*502T>C - 3-UTRSNV 6/6 - 2
1-248041182-T-A c.*1391T>A - 3-UTRSNV 6/6 - 1
1-248041182-T-G c.*1391T>G - 3-UTRSNV 6/6 - 1
1-248041421-C-T c.*1630C>T - 3-UTRSNV 6/6 - 1
1-248041599-A-G c.*1808A>G - 3-UTRSNV 6/6 - 1
1-248041599-A-T c.*1808A>T - 3-UTRSNV 6/6 - 1
1-248042225-T-A c.*2434T>A - 3-UTRSNV 6/6 - 1
1-248042225-T-C c.*2434T>C - 3-UTRSNV 6/6 - 1
1-248042279-T-G c.*2488T>G - 3-UTRSNV 6/6 - 1