GPAA1

GPAA1 glycosylphosphatidylinositol anchor attachment 1

Annotation transcript: NM_003801.4

612 unique variant annotations were identified in 279 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
8-145137652-C-T c.19C>T p.P7S Missense 1/12 - 1
8-145137653-C-T c.20C>T p.P7L Missense 1/12 - 1
8-145137654-G-A c.21G>A p.P7= Synonymous 1/12 - 1
8-145137654-G-C c.21G>C p.P7= Synonymous 1/12 - 1
8-145137654-G-T c.21G>T p.P7= Synonymous 1/12 - 1
8-145137668-C-T c.35C>T p.A12V Missense 1/12 - 1
8-145137671-T-C c.38T>C p.L13P Missense 1/12 - 1
8-145137685-C-G c.52C>G p.L18V Missense 1/12 - 1
8-145137694-A-G c.61A>G p.N21D Missense 1/12 - 1
8-145137697-G-C c.64G>C p.A22P Missense 1/12 - 1
8-145137697-GC-TA c.64_65delinsTA p.A22* Nonsense 1/12 - 1
8-145138028-G-A c.76G>A p.V26M Missense 2/12 - 1
8-145138031-CT-GC c.79_80delinsGC p.L27A Missense 2/12 - 2
8-145138040-GTG-ATC c.88_90delinsATC p.V30I Missense 2/12 - 1
8-145138042-G-T c.90G>T p.V30= Synonymous 2/12 - 1
8-145138043-GC-TA c.91_92delinsTA p.A31* Nonsense 2/12 - 1
8-145138044-C-A c.92C>A p.A31E Missense 2/12 - 1
8-145138045-G-A c.93G>A p.A31= Synonymous 2/12 - 1
8-145138045-G-C c.93G>C p.A31= Synonymous 2/12 - 1
8-145138045-G-T c.93G>T p.A31= Synonymous 2/12 - 1
8-145138046-G-A c.94G>A p.G32S Missense 2/12 - 2
8-145138047-G-A c.95G>A p.G32D Missense 2/12 - 1
8-145138051-C-G c.99C>G p.I33M Missense 2/12 - 2
8-145138052-G-T c.100G>T p.A34S Missense 2/12 - 1
8-145138053-C-A c.101C>A p.A34D Missense 2/12 - 1
8-145138058-T-C c.106T>C p.F36L Missense 2/12 - 1
8-145138061-TT-GC c.109_110delinsGC p.L37A Missense 2/12 - 1
8-145138063-G-A c.111G>A p.L37= Synonymous 2/12 - 5
8-145138065-C-T c.113C>T p.A38V Missense 2/12 - 6
8-145138075-C-T c.123C>T p.F41= Synonymous 2/12 - 1
8-145138078-G-A c.126G>A p.P42= Synonymous 2/12 - 1
8-145138078-G-C c.126G>C p.P42= Synonymous 2/12 - 1
8-145138078-G-T c.126G>T p.P42= Synonymous 2/12 - 1
8-145138096-T-G c.144T>G p.T48= Synonymous 2/12 - 1
8-145138100-A-C c.148A>C p.M50L Missense 2/12 - 1
8-145138101-T-A c.149T>A p.M50K Missense 2/12 - 1
8-145138104-C-T c.152C>T p.S51L Missense 2/12 - 4
8-145138106-G-C c.154G>C p.E52Q Missense 2/12 - 1
8-145138107-A-T c.155A>T p.E52V Missense 2/12 - 1
8-145138108-G-C c.156G>C p.E52D Missense 2/12 - 4
8-145138108-G-T c.156G>T p.E52D Missense 2/12 - 3
8-145138112-GC-AA c.160_161delinsAA p.A54N Missense 2/12 - 3
8-145138113-C-T c.161C>T p.A54V Missense 2/12 - 2
8-145138116-T-C c.164T>C p.M55T Missense 2/12 - 1
8-145138118-G-C c.166G>C p.G56R Missense 2/12 - 1
8-145138124-A-G c.172A>G p.T58A Missense 2/12 - 1
8-145138135-G-T c.183G>T p.E61D Missense 2/12 - 1
8-145138138-G-A c.186G>A p.E62= Synonymous 2/12 - 1
8-145138146-C-A c.194C>A p.A65E Missense 2/12 - 1
8-145138146-C-T c.194C>T p.A65V Missense 2/12 - 1
8-145138150-C-T c.198C>T p.G66= Synonymous 2/12 - 1
8-145138156-C-T c.204C>T p.D68= Synonymous 2/12 - 2
8-145138155-AC-A c.205del p.R69Vfs*31 Frameshift 2/12 - 1
8-145138157-C-A c.205C>A p.R69S Missense 2/12 - 1
8-145138158-G-A c.206G>A p.R69H Missense 2/12 - 1
8-145138160-TG-T c.208del p.A70Pfs*30 Frameshift 2/12 - 1
8-145138161-C-T c.209C>T p.A70V Missense 2/12 - 1
8-145138164-G-A c.212G>A p.R71Q Missense 2/12 - 1
8-145138165-G-A c.213G>A p.R71= Synonymous 2/12 - 1
8-145138168-CTTTT-C c.216_219del p.F73Pfs*26 Frameshift 2/12 - 1
8-145138171-T-TAAAA c.219_220insAAAA p.A74Kfs*21 Frameshift 2/12 - 1
8-145138173-C-T c.221C>T p.A74V Missense 2/12 - 1
8-145138174-C-A c.222C>A p.A74= Synonymous 2/12 - 2
8-145138174-C-G c.222C>G p.A74= Synonymous 2/12 - 1
8-145138174-C-T c.222C>T p.A74= Synonymous 2/12 - 1
8-145138175-CG-AA c.223_224delinsAA p.R75K Missense 2/12 - 1
8-145138175-C-T c.223C>T p.R75W Missense 2/12 - 1
8-145138176-G-T c.224G>T p.R75L Missense 2/12 - 1
8-145138175-C-CG c.226dup p.D76Gfs*18 Frameshift 2/12 - 1
8-145138178-G-GC c.226_227insC p.D76Afs*18 Frameshift 2/12 - 1
8-145138180-C-CG c.228_229insG p.F77Vfs*17 Frameshift 2/12 - 1
8-145138181-T-G c.229T>G p.F77V Missense 2/12 - 2
8-145138183-C-A c.231C>A p.F77L Missense 2/12 - 1
8-145138186-C-T c.234C>T p.A78= Synonymous 2/12 - 1
8-145138187-G-T c.235G>T p.A79S Missense 2/12 - 1
8-145138189-C-A c.237C>A p.A79= Synonymous 2/12 - 1
8-145138189-C-G c.237C>G p.A79= Synonymous 2/12 - 1
8-145138189-C-T c.237C>T p.A79= Synonymous 2/12 - 1
8-145138195-C-A c.243C>A p.R81= Synonymous 2/12 - 1
8-145138195-C-G c.243C>G p.R81= Synonymous 2/12 - 1
8-145138195-C-T c.243C>T p.R81= Synonymous 2/12 - 1
8-145138197-A-G c.245A>G p.K82R Missense 2/12 - 1
8-145138198-G-A c.246G>A p.K82= Synonymous 2/12 - 2
8-145138198-G-C c.246G>C p.K82N Missense 2/12 - 1
8-145138198-G-T c.246G>T p.K82N Missense 2/12 - 1
8-145138203-C-G c.251C>G p.S84W Missense 2/12 - 1
8-145138208-GTGAGCGGCAGAGCAGGGCGTATGGGGCGAGCAGTGGTGGCTAAGGCCGGGGAGCTCTGC-G c.254+3_255-25del - SpliceAcceptorDeletion - 2/11 1
8-145138292-G-C c.255G>C p.G85= Synonymous 3/12 - 1
8-145138296-C-G c.259C>G p.L87V Missense 3/12 - 1
8-145138299-C-T c.262C>T p.P88S Missense 3/12 - 1
8-145138314-G-C c.277G>C p.E93Q Missense 3/12 - 1
8-145138315-A-G c.278A>G p.E93G Missense 3/12 - 1
8-145138317-C-T c.280C>T p.R94W Missense 3/12 - 1
8-145138318-G-A c.281G>A p.R94Q Missense 3/12 - 1
8-145138336-G-A c.299G>A p.G100E Missense 3/12 - 1
8-145138336-G-C c.299G>C p.G100A Missense 3/12 - 1
8-145138344-G-A c.307G>A p.V103I Missense 3/12 - 2
8-145138351-C-G c.314C>G p.T105R Missense 3/12 - 1
8-145138351-C-T c.314C>T p.T105M Missense 3/12 - 2
8-145138363-C-T c.326C>T p.S109F Missense 3/12 - 1
8-145138364-C-A c.327C>A p.S109= Synonymous 3/12 - 1
8-145138364-C-G c.327C>G p.S109= Synonymous 3/12 - 1
8-145138364-C-T c.327C>T p.S109= Synonymous 3/12 - 1
8-145138365-C-T c.328C>T p.R110W Missense 3/12 - 1
8-145138370-A-G c.333A>G p.K111= Synonymous 3/12 - 1
8-145138380-C-T c.343C>T p.P115S Missense 3/12 - 1
8-145138381-C-A c.344C>A p.P115Q Missense 3/12 - 2
8-145138381-C-T c.344C>T p.P115L Missense 3/12 - 1
8-145138388-G-C c.351G>C p.E117D Missense 3/12 - 4
8-145138388-G-T c.351G>T p.E117D Missense 3/12 - 3
8-145138387-AGACCCAC-A c.353_359del p.T118Sfs*65 Frameshift 3/12 - 1
8-145138395-G-A c.358G>A p.E120K Missense 3/12 - 1
8-145138398-C-A c.361C>A p.R121S Missense 3/12 - 1
8-145138402-A-G c.365A>G p.Y122C Missense 3/12 - 1
8-145138406-A-G c.366+3A>G - IntronicSNV - 3/11 1
8-145138420-G-C c.366+17G>C - IntronicSNV - 3/11 1
8-145138477-G-C c.366+74G>C - IntronicSNV - 3/11 2
8-145138621-T-C c.371T>C p.V124A Missense 4/12 - 3
8-145138624-C-G c.374C>G p.S125W Missense 4/12 - 2
8-145138627-G-A c.377G>A p.G126D Missense 4/12 - 1
8-145138633-A-G c.383A>G p.N128S Missense 4/12 - 1
8-145138647-C-T c.397C>T p.L133= Synonymous 4/12 - 1
8-145138650-C-T c.400C>T p.R134W Missense 4/12 - 1
8-145138651-G-A c.401G>A p.R134Q Missense 4/12 - 3
8-145138652-G-A c.402G>A p.R134= Synonymous 4/12 - 1
8-145138653-G-A c.403G>A p.A135T Missense 4/12 - 1
8-145138659-C-G c.409C>G p.R137G Missense 4/12 - 1
8-145138659-C-T c.409C>T p.R137C Missense 4/12 - 2
8-145138666-C-T c.416C>T p.A139V Missense 4/12 - 2
8-145138672-C-A c.422C>A p.T141N Missense 4/12 - 1
8-145138674-G-C c.424G>C p.E142Q Missense 4/12 - 1
8-145138676-G-A c.426G>A p.E142= Synonymous 4/12 - 1
8-145138678-C-T c.428C>T p.S143L Missense 4/12 - 2
8-145138681-T-G c.431T>G p.L144R Missense 4/12 - 2
8-145138686-C-T c.436C>T p.L146F Missense 4/12 - 1
8-145138688-C-G c.438C>G p.L146= Synonymous 4/12 - 1
8-145138692-G-A c.442G>A p.V148M Missense 4/12 - 2
8-145138695-C-G c.445C>G p.P149A Missense 4/12 - 1
8-145138695-C-T c.445C>T p.P149S Missense 4/12 - 1
8-145138698-T-A c.448T>A p.C150S Missense 4/12 - 1
8-145138698-T-C c.448T>C p.C150R Missense 4/12 - 1
8-145138700-T-G c.450T>G p.C150W Missense 4/12 - 1
8-145138708-A-C c.458A>C p.D153A Missense 4/12 - 2
8-145138708-A-G c.458A>G p.D153G Missense 4/12 - 1
8-145138717-A-G c.467A>G p.N156S Missense 4/12 - 2
8-145138719-A-T c.469A>T p.S157C Missense 4/12 - 1
8-145138720-G-A c.470G>A p.S157N Missense 4/12 - 2
8-145138727-T-C c.477T>C p.A159= Synonymous 4/12 - 1
8-145138728-G-A c.478G>A p.V160M Missense 4/12 - 1
8-145138732-G-T c.482G>T p.G161V Missense 4/12 - 1
8-145138733-G-A c.483G>A p.G161= Synonymous 4/12 - 2
8-145138733-G-C c.483G>C p.G161= Synonymous 4/12 - 1
8-145138733-G-T c.483G>T p.G161= Synonymous 4/12 - 1
8-145138735-TGCTGCTGGCACTGGCTGCCCACTTCCGGG-T c.487_514+1del - SpliceDonorDeletion 4/12 4/11 1
8-145138740-C-A c.490C>A p.L164M Missense 4/12 - 1
8-145138743-G-T c.493G>T p.A165S Missense 4/12 - 1
8-145138749-G-C c.499G>C p.A167P Missense 4/12 - 1
8-145138750-C-A c.500C>A p.A167D Missense 4/12 - 1
8-145138754-C-T c.504C>T p.A168= Synonymous 4/12 - 1
8-145138760-C-A c.510C>A p.F170L Missense 4/12 - 1
8-145138844-C-A c.517C>A p.Q173K Missense 5/12 - 1
8-145138854-G-C c.527G>C p.W176S Missense 5/12 - 6
8-145138857-C-T c.530C>T p.A177V Missense 5/12 - 1
8-145138860-A-G c.533A>G p.K178R Missense 5/12 - 1
8-145138862-G-C c.535G>C p.D179H Missense 5/12 - 1
8-145138862-G-T c.535G>T p.D179Y Missense 5/12 - 3
8-145138867-C-A c.540C>A p.I180= Synonymous 5/12 - 2
8-145138867-C-T c.540C>T p.I180= Synonymous 5/12 - 3
8-145138873-C-T c.546C>T p.F182= Synonymous 5/12 - 1
8-145138877-G-A c.550G>A p.V184I Missense 5/12 - 1
8-145138884-A-C c.557A>C p.E186A Missense 5/12 - 1
8-145138886-CA-GC c.559_560delinsGC p.H187A Missense 5/12 - 1
8-145138886-C-G c.559C>G p.H187D Missense 5/12 - 1
8-145138886-C-T c.559C>T p.H187Y Missense 5/12 - 1
8-145138889-G-T c.562G>T p.D188Y Missense 5/12 - 1
8-145138890-A-C c.563A>C p.D188A Missense 5/12 - 2
8-145138892-C-G c.565C>G p.L189V Missense 5/12 - 1
8-145138892-C-T c.565C>T p.L189F Missense 5/12 - 1
8-145138896-T-A c.569T>A p.L190Q Missense 5/12 - 1
8-145138897-G-C c.570G>C p.L190= Synonymous 5/12 - 1
8-145138899-G-C c.572G>C p.G191A Missense 5/12 - 1
8-145138899-G-T c.572G>T p.G191V Missense 5/12 - 3
8-145138902-C-G c.575C>G p.T192S Missense 5/12 - 1
8-145138904-G-A c.577G>A p.E193K Missense 5/12 - 1
8-145138905-A-T c.578A>T p.E193V Missense 5/12 - 1
8-145138920-C-T c.593C>T p.A198V Missense 5/12 - 1
8-145138922-T-C c.595T>C p.Y199H Missense 5/12 - 1
8-145138928-G-A c.601G>A p.D201N Missense 5/12 - 1
8-145138928-G-C c.601G>C p.D201H Missense 5/12 - 1
8-145138934-AAT-CAA c.607_609delinsCAA p.N203Q Missense 5/12 - 1
8-145138935-A-G c.608A>G p.N203S Missense 5/12 - 1
8-145138937-G-A c.610G>A p.V204I Missense 5/12 - 1
8-145138940-A-C c.613A>C p.T205P Missense 5/12 - 1
8-145138941-C-T c.614C>T p.T205I Missense 5/12 - 1
8-145139038-C-A c.618C>A p.G206= Synonymous 6/12 - 1
8-145139038-C-G c.618C>G p.G206= Synonymous 6/12 - 1
8-145139038-C-T c.618C>T p.G206= Synonymous 6/12 - 1
8-145139039-CA-C c.619del p.M207Cfs*21 Frameshift 6/12 - 1
8-145139046-C-T c.626C>T p.S209L Missense 6/12 - 1
8-145139047-G-A c.627G>A p.S209= Synonymous 6/12 - 3
8-145139047-G-C c.627G>C p.S209= Synonymous 6/12 - 2
8-145139047-G-T c.627G>T p.S209= Synonymous 6/12 - 2
8-145139049-C-G c.629C>G p.S210C Missense 6/12 - 1
8-145139049-C-T c.629C>T p.S210F Missense 6/12 - 2
8-145139051-C-G c.631C>G p.P211A Missense 6/12 - 1
8-145139052-C-T c.632C>T p.P211L Missense 6/12 - 1
8-145139054-C-T c.634C>T p.L212= Synonymous 6/12 - 1
8-145139056-G-A c.636G>A p.L212= Synonymous 6/12 - 1
8-145139056-G-C c.636G>C p.L212= Synonymous 6/12 - 1
8-145139056-G-T c.636G>T p.L212= Synonymous 6/12 - 1
8-145139057-C-G c.637C>G p.Q213E Missense 6/12 - 1
8-145139058-A-G c.638A>G p.Q213R Missense 6/12 - 1
8-145139062-C-T c.642C>T p.G214= Synonymous 6/12 - 1
8-145139063-C-G c.643C>G p.R215G Missense 6/12 - 1
8-145139063-CGA-TGT c.643_645delinsTGT p.R215C Missense 6/12 - 1
8-145139064-G-A c.644G>A p.R215Q Missense 6/12 - 2
8-145139066-G-T c.646G>T p.A216S Missense 6/12 - 1
8-145139073-C-T c.653C>T p.A218V Missense 6/12 - 1
8-145139078-C-A c.658C>A p.Q220K Missense 6/12 - 1
8-145139078-C-T c.658C>T p.Q220* Nonsense 6/12 - 2
8-145139087-G-A c.667G>A p.V223M Missense 6/12 - 2
8-145139088-T-A c.668T>A p.V223E Missense 6/12 - 1
8-145139097-A-C c.677A>C p.E226A Missense 6/12 - 2
8-145139098-G-C c.678G>C p.E226D Missense 6/12 - 1
8-145139098-G-T c.678G>T p.E226D Missense 6/12 - 1
8-145139101-G-C c.681G>C p.L227= Synonymous 6/12 - 1
8-145139112-T-TG c.694dup p.V232Gfs*12 Frameshift 6/12 - 1
8-145139114-G-T c.694G>T p.V232F Missense 6/12 - 2
8-145139121-G-T c.701G>T p.S234I Missense 6/12 - 1
8-145139120-A-C c.700A>C p.S234R Missense 6/12 - 1
8-145139126-G-A c.706G>A p.D236N Missense 6/12 - 1
8-145139127-A-G c.707A>G p.D236G Missense 6/12 - 2
8-145139129-G-C c.709G>C p.V237L Missense 6/12 - 1
8-145139129-G-T c.709G>T p.V237L Missense 6/12 - 1
8-145139132-G-A c.712G>A p.A238T Missense 6/12 - 2
8-145139133-C-G c.713C>G p.A238G Missense 6/12 - 1
8-145139133-C-T c.713C>T p.A238V Missense 6/12 - 1
8-145139135-G-A c.715G>A p.V239M Missense 6/12 - 1
8-145139137-GG-AA c.717_718delinsAA p.E240K Missense 6/12 - 1
8-145139138-G-A c.718G>A p.E240K Missense 6/12 - 3
8-145139139-A-G c.719A>G p.E240G Missense 6/12 - 1
8-145139140-G-A c.720G>A p.E240= Synonymous 6/12 - 1
8-145139140-G-C c.720G>C p.E240D Missense 6/12 - 2
8-145139144-C-G c.724C>G p.L242V Missense 6/12 - 1
8-145139145-T-C c.725T>C p.L242P Missense 6/12 - 1
8-145139147-A-C c.727A>C p.N243H Missense 6/12 - 1
8-145139149-C-T c.729C>T p.N243= Synonymous 6/12 - 1
8-145139150-GGG-AGC c.730_732delinsAGC p.G244S Missense 6/12 - 1
8-145139156-CTG-TTT c.736_738delinsTTT p.L246F Missense 6/12 - 1
8-145139164-C-G c.744C>G p.N248K Missense 6/12 - 1
8-145139169-A-C c.749A>C p.D250A Missense 6/12 - 1
8-145139170-C-A c.750C>A p.D250E Missense 6/12 - 1
8-145139170-C-G c.750C>G p.D250E Missense 6/12 - 1
8-145139175-T-C c.755T>C p.L252P Missense 6/12 - 1
8-145139176-C-T c.756C>T p.L252= Synonymous 6/12 - 1
8-145139178-A-G c.758A>G p.N253S Missense 6/12 - 1
8-145139185-C-T c.765C>T p.F255= Synonymous 6/12 - 3
8-145139192-T-C c.772T>C p.F258L Missense 6/12 - 1
8-145139194-C-T c.774C>T p.F258= Synonymous 6/12 - 1
8-145139196-G-T c.776G>T p.C259F Missense 6/12 - 2
8-145139200-G-C c.780G>C p.Q260H Missense 6/12 - 1
8-145139200-G-T c.780G>T p.Q260H Missense 6/12 - 1
8-145139204-G-A c.784G>A p.G262R Missense 6/12 - 1
8-145139204-G-C c.784G>C p.G262R Missense 6/12 - 1
8-145139210-C-A c.790C>A p.L264M Missense 6/12 - 1
8-145139220-C-T c.800C>T p.T267M Missense 6/12 - 1
8-145139221-G-A c.801G>A p.T267= Synonymous 6/12 - 2
8-145139221-G-C c.801G>C p.T267= Synonymous 6/12 - 2
8-145139221-G-T c.801G>T p.T267= Synonymous 6/12 - 2
8-145139308-C-A c.814-8C>A - IntronicSNV - 6/11 1
8-145139308-C-T c.814-8C>T - IntronicSNV - 6/11 1
8-145139319-C-T c.817C>T p.Q273* Nonsense 7/12 - 1
8-145139321-G-C c.819G>C p.Q273H Missense 7/12 - 1
8-145139321-G-T c.819G>T p.Q273H Missense 7/12 - 1
8-145139322-C-T c.820C>T p.P274S Missense 7/12 - 2
8-145139324-C-A c.822C>A p.P274= Synonymous 7/12 - 1
8-145139324-C-G c.822C>G p.P274= Synonymous 7/12 - 1
8-145139324-C-T c.822C>T p.P274= Synonymous 7/12 - 1
8-145139325-G-A c.823G>A p.E275K Missense 7/12 - 1
8-145139325-G-C c.823G>C p.E275Q Missense 7/12 - 8
8-145139326-A-G c.824A>G p.E275G Missense 7/12 - 1
8-145139328-G-A c.826G>A p.D276N Missense 7/12 - 1
8-145139332-G-A c.830G>A p.W277* Nonsense 7/12 - 1
8-145139332-G-T c.830G>T p.W277L Missense 7/12 - 1
8-145139333-G-A c.831G>A p.W277* Nonsense 7/12 - 1
8-145139335-C-T c.833C>T p.T278I Missense 7/12 - 1
8-145139344-A-C c.842A>C p.D281A Missense 7/12 - 1
8-145139349-C-G c.847C>G p.P283A Missense 7/12 - 1
8-145139350-C-T c.848C>T p.P283L Missense 7/12 - 2
8-145139351-G-A c.849G>A p.P283= Synonymous 7/12 - 1
8-145139351-G-C c.849G>C p.P283= Synonymous 7/12 - 1
8-145139351-G-T c.849G>T p.P283= Synonymous 7/12 - 1
8-145139352-C-A c.850C>A p.L284M Missense 7/12 - 1
8-145139352-C-T c.850C>T p.L284= Synonymous 7/12 - 3
8-145139354-G-A c.852G>A p.L284= Synonymous 7/12 - 2
8-145139354-G-C c.852G>C p.L284= Synonymous 7/12 - 2
8-145139354-G-T c.852G>T p.L284= Synonymous 7/12 - 2
8-145139357-G-C c.855G>C p.Q285H Missense 7/12 - 1
8-145139357-G-T c.855G>T p.Q285H Missense 7/12 - 2
8-145139359-G-T c.857G>T p.G286V Missense 7/12 - 4
8-145139361-C-T c.859C>T p.L287= Synonymous 7/12 - 2
8-145139363-G-A c.861G>A p.L287= Synonymous 7/12 - 2
8-145139363-G-C c.861G>C p.L287= Synonymous 7/12 - 2
8-145139363-G-T c.861G>T p.L287= Synonymous 7/12 - 2
8-145139371-T-C c.869T>C p.L290P Missense 7/12 - 5
8-145139374-T-C c.872T>C p.L291P Missense 7/12 - 4
8-145139388-C-T c.886C>T p.R296W Missense 7/12 - 3
8-145139389-G-T c.887G>T p.R296L Missense 7/12 - 1
8-145139397-T-C c.895T>C p.S299P Missense 7/12 - 1
8-145139400-G-A c.898G>A p.G300S Missense 7/12 - 2
8-145139400-G-T c.898G>T p.G300C Missense 7/12 - 1
8-145139403-CGC-AAG c.901_903delinsAAG p.R301K Missense 7/12 - 1
8-145139404-G-A c.902G>A p.R301H Missense 7/12 - 1
8-145139409-CA-GC c.907_908delinsGC p.H303A Missense 7/12 - 1
8-145139410-A-G c.908A>G p.H303R Missense 7/12 - 1
8-145139411-C-A c.909C>A p.H303Q Missense 7/12 - 1
8-145139412-G-A c.910G>A p.G304S Missense 7/12 - 2
8-145139412-G-T c.910G>T p.G304C Missense 7/12 - 1
8-145139413-G-A c.911G>A p.G304D Missense 7/12 - 1
8-145139417-C-A c.915C>A p.S305= Synonymous 7/12 - 3
8-145139417-C-G c.915C>G p.S305= Synonymous 7/12 - 2
8-145139417-C-T c.915C>T p.S305= Synonymous 7/12 - 2
8-145139419-A-G c.917A>G p.H306R Missense 7/12 - 1
8-145139420-TG-T c.920del p.G307Afs*11 Frameshift 7/12 - 3
8-145139422-G-A c.920G>A p.G307D Missense 7/12 - 1
8-145139433-C-T c.931C>T p.R311C Missense 7/12 - 2
8-145139449-C-T c.947C>T p.A316V Missense 7/12 - 2
8-145139455-C-A c.953C>A p.T318N Missense 7/12 - 1
8-145139456-C-T c.954C>T p.T318= Synonymous 7/12 - 1
8-145139460-C-T c.958C>T p.R320C Missense 7/12 - 7
8-145139461-G-A c.959G>A p.R320H Missense 7/12 - 2
8-145139461-G-T c.959G>T p.R320L Missense 7/12 - 1
8-145139463-G-A c.961G>A p.G321S Missense 7/12 - 2
8-145139466-A-G c.964A>G p.I322V Missense 7/12 - 1
8-145139467-T-A c.965T>A p.I322N Missense 7/12 - 1
8-145139468-C-A c.966C>A p.I322= Synonymous 7/12 - 1
8-145139468-C-T c.966C>T p.I322= Synonymous 7/12 - 1
8-145139470-A-G c.968A>G p.N323S Missense 7/12 - 2
8-145139477-CC-TT c.975_976delinsTT p.R326C Missense 7/12 - 1
8-145139477-C-G c.975C>G p.F325L Missense 7/12 - 1
8-145139478-C-T c.976C>T p.R326C Missense 7/12 - 5
8-145139479-G-A c.977G>A p.R326H Missense 7/12 - 1
8-145139483-AGTACAAGTATGAC-A c.981_993del p.Q327Hfs*102 Frameshift 7/12 - 3
8-145139484-TA-GC c.982_983delinsGC p.Y328A Missense 7/12 - 1
8-145139486-C-T c.984C>T p.Y328= Synonymous 7/12 - 1
8-145139489-G-A c.987G>A p.K329= Synonymous 7/12 - 1
8-145139491-A-T c.989A>T p.Y330F Missense 7/12 - 2
8-145139493-G-A c.991G>A p.D331N Missense 7/12 - 3
8-145139502-G-A c.1000G>A p.A334T Missense 7/12 - 1
8-145139505-G-T c.1003G>T p.V335L Missense 7/12 - 1
8-145139522-C-G c.1010+10C>G - IntronicSNV - 7/11 4
8-145139629-T-C c.1015T>C p.L339= Synonymous 8/12 - 1
8-145139636-G-A c.1022G>A p.G341D Missense 8/12 - 1
8-145139639-T-G c.1025T>G p.M342R Missense 8/12 - 1
8-145139643-C-T c.1029C>T p.F343= Synonymous 8/12 - 1
8-145139644-C-T c.1030C>T p.R344C Missense 8/12 - 1
8-145139652-C-A c.1038C>A p.L346= Synonymous 8/12 - 1
8-145139652-C-G c.1038C>G p.L346= Synonymous 8/12 - 2
8-145139652-C-T c.1038C>T p.L346= Synonymous 8/12 - 1
8-145139654-A-G c.1040A>G p.N347S Missense 8/12 - 1
8-145139655-C-T c.1041C>T p.N347= Synonymous 8/12 - 1
8-145139663-T-G c.1049T>G p.L350R Missense 8/12 - 1
8-145139668-C-T c.1054C>T p.R352C Missense 8/12 - 1
8-145139669-G-A c.1055G>A p.R352H Missense 8/12 - 1
8-145139674-CAC-GAG c.1060_1062delinsGAG p.H354E Missense 8/12 - 1
8-145139674-CA-GC c.1060_1061delinsGC p.H354A Missense 8/12 - 1
8-145139674-CA-TT c.1060_1061delinsTT p.H354F Missense 8/12 - 1
8-145139677-CA-GC c.1063_1064delinsGC p.Q355A Missense 8/12 - 1
8-145139677-CAG-TTT c.1063_1065delinsTTT p.Q355F Missense 8/12 - 1
8-145139680-TC-CT c.1066_1067delinsCT p.S356L Missense 8/12 - 1
8-145139685-C-T c.1071C>T p.F357= Synonymous 8/12 - 4
8-145139691-C-G c.1077C>G p.L359= Synonymous 8/12 - 1
8-145139700-C-T c.1086C>T p.L362= Synonymous 8/12 - 1
8-145139699-TC-T c.1089del p.G364Afs*69 Frameshift 8/12 - 1
8-145139703-C-A c.1089C>A p.P363= Synonymous 8/12 - 1
8-145139703-C-G c.1089C>G p.P363= Synonymous 8/12 - 1
8-145139703-C-T c.1089C>T p.P363= Synonymous 8/12 - 1
8-145139704-G-A c.1090G>A p.G364S Missense 8/12 - 1
8-145139712-C-A c.1098C>A p.S366= Synonymous 8/12 - 1
8-145139712-C-G c.1098C>G p.S366= Synonymous 8/12 - 1
8-145139712-C-T c.1098C>T p.S366= Synonymous 8/12 - 1
8-145139713-C-T c.1099C>T p.R367C Missense 8/12 - 4
8-145139714-G-A c.1100G>A p.R367H Missense 8/12 - 2
8-145139714-G-C c.1100G>C p.R367P Missense 8/12 - 1
8-145139714-GC-AA c.1100_1101delinsAA p.R367Q Missense 8/12 - 1
8-145139718-C-T c.1104C>T p.F368= Synonymous 8/12 - 5
8-145139721-C-A c.1107C>A p.V369= Synonymous 8/12 - 1
8-145139721-C-G c.1107C>G p.V369= Synonymous 8/12 - 1
8-145139721-C-T c.1107C>T p.V369= Synonymous 8/12 - 1
8-145139723-C-T c.1109C>T p.S370F Missense 8/12 - 3
8-145139727-C-A c.1113C>A p.I371= Synonymous 8/12 - 1
8-145139727-C-T c.1113C>T p.I371= Synonymous 8/12 - 5
8-145139728-G-A c.1114G>A p.G372S Missense 8/12 - 1
8-145139728-G-C c.1114G>C p.G372R Missense 8/12 - 1
8-145139730-C-A c.1116C>A p.G372= Synonymous 8/12 - 3
8-145139730-C-G c.1116C>G p.G372= Synonymous 8/12 - 3
8-145139730-C-T c.1116C>T p.G372= Synonymous 8/12 - 5
8-145139735-A-G c.1121A>G p.Y374C Missense 8/12 - 1
8-145139737-A-G c.1123A>G p.M375V Missense 8/12 - 1
8-145139739-G-A c.1125G>A p.M375I Missense 8/12 - 1
8-145139741-C-A c.1127C>A p.P376H Missense 8/12 - 1
8-145139742-C-A c.1128C>A p.P376= Synonymous 8/12 - 1
8-145139742-C-G c.1128C>G p.P376= Synonymous 8/12 - 1
8-145139742-C-T c.1128C>T p.P376= Synonymous 8/12 - 1
8-145139743-G-A c.1129G>A p.A377T Missense 8/12 - 2
8-145139744-C-T c.1130C>T p.A377V Missense 8/12 - 1
8-145139748-C-A c.1134C>A p.V378= Synonymous 8/12 - 1
8-145139748-C-G c.1134C>G p.V378= Synonymous 8/12 - 1
8-145139748-C-T c.1134C>T p.V378= Synonymous 8/12 - 1
8-145139749-G-A c.1135G>A p.G379S Missense 8/12 - 3
8-145139750-G-A c.1136G>A p.G379D Missense 8/12 - 4
8-145139755-T-C c.1141T>C p.L381= Synonymous 8/12 - 1
8-145139757-G-A c.1143G>A p.L381= Synonymous 8/12 - 1
8-145139758-C-G c.1144C>G p.L382V Missense 8/12 - 1
8-145139762-T-C c.1148T>C p.L383P Missense 8/12 - 1
8-145139766-C-A c.1152C>A p.V384= Synonymous 8/12 - 1
8-145139766-C-G c.1152C>G p.V384= Synonymous 8/12 - 1
8-145139766-C-T c.1152C>T p.V384= Synonymous 8/12 - 1
8-145139777-A-T c.1163A>T p.K388M Missense 8/12 - 1
8-145139783-C-T c.1164+5C>T - IntronicSNV - 8/11 2
8-145139859-A-T c.1164+81A>T - IntronicSNV - 8/11 1
8-145139860-T-G c.1164+82T>G - IntronicSNV - 8/11 1
8-145139945-C-T c.1165-1C>T - IntronicSNV - 8/11 1
8-145139946-G-C c.1165G>C p.A389P Missense 9/12 - 4
8-145139953-A-C c.1172A>C p.E391A Missense 9/12 - 1
8-145139958-T-C c.1177T>C p.W393R Missense 9/12 - 2
8-145139960-G-A c.1179G>A p.W393* Nonsense 9/12 - 2
8-145139972-T-C c.1191T>C p.H397= Synonymous 9/12 - 1
8-145139976-G-A c.1195G>A p.A399T Missense 9/12 - 1
8-145139977-C-A c.1196C>A p.A399D Missense 9/12 - 1
8-145139988-CT-C c.1209del p.E404Rfs*29 Frameshift 9/12 - 1
8-145139991-G-A c.1210G>A p.E404K Missense 9/12 - 1
8-145139991-G-C c.1210G>C p.E404Q Missense 9/12 - 1
8-145139991-G-T c.1210G>T p.E404* Nonsense 9/12 - 1
8-145139999-C-A c.1218C>A p.P406= Synonymous 9/12 - 1
8-145139999-C-G c.1218C>G p.P406= Synonymous 9/12 - 1
8-145139999-C-T c.1218C>T p.P406= Synonymous 9/12 - 2
8-145140000-G-T c.1219G>T p.G407W Missense 9/12 - 1
8-145140004-G-A c.1223G>A p.G408D Missense 9/12 - 3
8-145140014-GCCCCAGT-G c.1233_1239del p.P412Yfs*19 Frameshift 9/12 - 1
8-145140020-T-G c.1239T>G p.S413R Missense 9/12 - 1
8-145140026-C-T c.1245C>T p.P415= Synonymous 9/12 - 1
8-145140027-C-T c.1246C>T p.L416F Missense 9/12 - 1
8-145140031-C-T c.1250C>T p.P417L Missense 9/12 - 1
8-145140035-A-C c.1254A>C p.P418= Synonymous 9/12 - 1
8-145140035-A-G c.1254A>G p.P418= Synonymous 9/12 - 1
8-145140035-A-T c.1254A>T p.P418= Synonymous 9/12 - 1
8-145140042-G-T c.1260+1G>T - IntronicSNV - 9/11 1
8-145140208-C-T c.1277C>T p.S426L Missense 10/12 - 1
8-145140212-C-A c.1281C>A p.L427= Synonymous 10/12 - 2
8-145140212-C-G c.1281C>G p.L427= Synonymous 10/12 - 1
8-145140212-C-T c.1281C>T p.L427= Synonymous 10/12 - 1
8-145140216-G-A c.1285G>A p.A429T Missense 10/12 - 1
8-145140219-C-T c.1288C>T p.P430S Missense 10/12 - 3
8-145140220-C-G c.1289C>G p.P430R Missense 10/12 - 1
8-145140222-C-T c.1291C>T p.L431= Synonymous 10/12 - 1
8-145140227-G-A c.1296G>A p.L432= Synonymous 10/12 - 1
8-145140228-A-G c.1297A>G p.I433V Missense 10/12 - 1
8-145140237-G-A c.1306G>A p.A436T Missense 10/12 - 1
8-145140242-G-A c.1311G>A p.M437I Missense 10/12 - 2
8-145140242-G-C c.1311G>C p.M437I Missense 10/12 - 2
8-145140242-G-T c.1311G>T p.M437I Missense 10/12 - 2
8-145140244-G-C c.1313G>C p.G438A Missense 10/12 - 1
8-145140249-G-A c.1318G>A p.A440T Missense 10/12 - 1
8-145140252-C-A c.1321C>A p.L441I Missense 10/12 - 1
8-145140252-C-T c.1321C>T p.L441F Missense 10/12 - 1
8-145140254-C-A c.1323C>A p.L441= Synonymous 10/12 - 1
8-145140254-C-G c.1323C>G p.L441= Synonymous 10/12 - 2
8-145140254-C-T c.1323C>T p.L441= Synonymous 10/12 - 1
8-145140256-A-G c.1325A>G p.Y442C Missense 10/12 - 1
8-145140260-C-T c.1329C>T p.V443= Synonymous 10/12 - 1
8-145140261-C-T c.1330C>T p.L444= Synonymous 10/12 - 1
8-145140263-G-A c.1332G>A p.L444= Synonymous 10/12 - 1
8-145140263-G-C c.1332G>C p.L444= Synonymous 10/12 - 1
8-145140263-G-T c.1332G>T p.L444= Synonymous 10/12 - 1
8-145140267-G-C c.1336G>C p.V446L Missense 10/12 - 1
8-145140267-G-T c.1336G>T p.V446L Missense 10/12 - 1
8-145140273-G-GGT c.1343_1344insTG p.Q449Afs*19 Frameshift 10/12 - 1
8-145140274-G-A c.1343G>A p.G448D Missense 10/12 - 1
8-145140275-C-A c.1344C>A p.G448= Synonymous 10/12 - 2
8-145140275-C-G c.1344C>G p.G448= Synonymous 10/12 - 3
8-145140275-C-T c.1344C>T p.G448= Synonymous 10/12 - 3
8-145140276-C-T c.1345C>T p.Q449* Nonsense 10/12 - 1
8-145140280-A-G c.1349A>G p.H450R Missense 10/12 - 1
8-145140281-C-T c.1350C>T p.H450= Synonymous 10/12 - 1
8-145140282-G-A c.1351G>A p.V451I Missense 10/12 - 3
8-145140286-C-T c.1355C>T p.A452V Missense 10/12 - 3
8-145140286-GCC-G c.1355_1356del p.A452Dfs*10 Frameshift 10/12 - 1
8-145140288-A-G c.1357A>G p.T453A Missense 10/12 - 2
8-145140289-C-T c.1358C>T p.T453I Missense 10/12 - 1
8-145140293-G-C c.1362G>C p.Q454H Missense 10/12 - 2
8-145140293-G-T c.1362G>T p.Q454H Missense 10/12 - 2
8-145140309-G-A c.1378G>A p.E460K Missense 10/12 - 1
8-145140309-G-T c.1378G>T p.E460* Nonsense 10/12 - 1
8-145140315-G-A c.1384G>A p.E462K Missense 10/12 - 1
8-145140316-A-G c.1385A>G p.E462G Missense 10/12 - 1
8-145140319-CTG-C c.1391_1392del p.V464Gfs*181 Frameshift 10/12 - 1
8-145140324-G-A c.1393G>A p.V465M Missense 10/12 - 1
8-145140340-C-T c.1409C>T p.A470V Missense 10/12 - 2
8-145140358-T-C c.1427T>C p.L476P Missense 10/12 - 1
8-145140380-C-G c.1449C>G p.H483Q Missense 10/12 - 1
8-145140381-C-T c.1450C>T p.R484W Missense 10/12 - 1
8-145140382-G-A c.1451G>A p.R484Q Missense 10/12 - 3
8-145140472-A-G c.1452-4A>G - IntronicSNV - 10/11 1
8-145140478-T-G c.1454T>G p.V485G Missense 11/12 - 1
8-145140485-C-A c.1461C>A p.S487R Missense 11/12 - 1
8-145140493-C-T c.1469C>T p.A490V Missense 11/12 - 1
8-145140496-C-A c.1472C>A p.P491Q Missense 11/12 - 1
8-145140496-C-T c.1472C>T p.P491L Missense 11/12 - 1
8-145140501-A-G c.1477A>G p.R493G Missense 11/12 - 1
8-145140501-CAG-C c.1477_1478del p.R493Gfs*152 Frameshift 11/12 - 1
8-145140516-C-A c.1492C>A p.L498M Missense 11/12 - 3
8-145140527-A-G c.1503A>G p.V501= Synonymous 11/12 - 1
8-145140532-T-C c.1508T>C p.L503P Missense 11/12 - 2
8-145140537-T-C c.1513T>C p.Y505H Missense 11/12 - 1
8-145140540-C-G c.1516C>G p.L506V Missense 11/12 - 1
8-145140543-GC-CA c.1519_1520delinsCA p.A507Q Missense 11/12 - 1
8-145140544-C-G c.1520C>G p.A507G Missense 11/12 - 1
8-145140563-C-A c.1539C>A p.I513= Synonymous 11/12 - 1
8-145140563-C-T c.1539C>T p.I513= Synonymous 11/12 - 1
8-145140564-G-A c.1540G>A p.A514T Missense 11/12 - 7
8-145140568-T-C c.1544T>C p.L515P Missense 11/12 - 1
8-145140569-C-A c.1545C>A p.L515= Synonymous 11/12 - 1
8-145140569-C-G c.1545C>G p.L515= Synonymous 11/12 - 1
8-145140569-C-T c.1545C>T p.L515= Synonymous 11/12 - 1
8-145140571-C-T c.1547C>T p.T516I Missense 11/12 - 1
8-145140573-AAC-CAA c.1549_1551delinsCAA p.N517Q Missense 11/12 - 1
8-145140574-A-C c.1550A>C p.N517T Missense 11/12 - 3
8-145140583-T-G c.1559T>G p.L520R Missense 11/12 - 1
8-145140597-G-A c.1573G>A p.A525T Missense 11/12 - 1
8-145140600-AC-TG c.1576_1577delinsTG p.T526C Missense 11/12 - 1
8-145140612-C-T c.1588C>T p.P530S Missense 11/12 - 1
8-145140613-C-G c.1589C>G p.P530R Missense 11/12 - 1
8-145140613-C-T c.1589C>T p.P530L Missense 11/12 - 1
8-145140618-G-T c.1594G>T p.A532S Missense 11/12 - 1
8-145140621-G-T c.1597G>T p.A533S Missense 11/12 - 1
8-145140622-C-A c.1598C>A p.A533E Missense 11/12 - 1
8-145140632-G-A c.1608G>A p.K536= Synonymous 11/12 - 1
8-145140636-C-T c.1612C>T p.H538Y Missense 11/12 - 1
8-145140638-T-A c.1614T>A p.H538Q Missense 11/12 - 1
8-145140638-T-G c.1614T>G p.H538Q Missense 11/12 - 1
8-145140645-C-T c.1621C>T p.R541W Missense 11/12 - 1
8-145140646-G-A c.1622G>A p.R541Q Missense 11/12 - 2
8-145140796-C-T c.1634C>T p.A545V Missense 12/12 - 1
8-145140806-GGT-G c.1646_1647del p.V549Afs*96 Frameshift 12/12 - 2
8-145140817-G-A c.1655G>A p.S552N Missense 12/12 - 1
8-145140818-C-T c.1656C>T p.S552= Synonymous 12/12 - 1
8-145140820-C-T c.1658C>T p.P553L Missense 12/12 - 1
8-145140829-C-T c.1667C>T p.T556M Missense 12/12 - 1
8-145140837-G-A c.1675G>A p.G559S Missense 12/12 - 1
8-145140841-G-T c.1679G>T p.S560I Missense 12/12 - 1
8-145140845-G-A c.1683G>A p.L561= Synonymous 12/12 - 1
8-145140849-C-T c.1687C>T p.L563= Synonymous 12/12 - 1
8-145140851-G-A c.1689G>A p.L563= Synonymous 12/12 - 1
8-145140851-G-C c.1689G>C p.L563= Synonymous 12/12 - 1
8-145140851-G-T c.1689G>T p.L563= Synonymous 12/12 - 1
8-145140854-G-C c.1692G>C p.W564C Missense 12/12 - 1
8-145140854-G-T c.1692G>T p.W564C Missense 12/12 - 2
8-145140864-C-A c.1702C>A p.Q568K Missense 12/12 - 1
8-145140867-G-T c.1705G>T p.E569* Nonsense 12/12 - 1
8-145140876-C-T c.1714C>T p.L572= Synonymous 12/12 - 1
8-145140888-G-A c.1726G>A p.E576K Missense 12/12 - 8
8-145140893-C-A c.1731C>A p.G577= Synonymous 12/12 - 2
8-145140893-C-G c.1731C>G p.G577= Synonymous 12/12 - 2
8-145140893-C-T c.1731C>T p.G577= Synonymous 12/12 - 3
8-145140896-G-A c.1734G>A p.W578* Nonsense 12/12 - 1
8-145140899-G-A c.1737G>A p.Q579= Synonymous 12/12 - 2
8-145140902-C-T c.1740C>T p.L580= Synonymous 12/12 - 2
8-145140905-C-T c.1743C>T p.F581= Synonymous 12/12 - 1
8-145140910-C-T c.1748C>T p.A583V Missense 12/12 - 1
8-145140918-G-A c.1756G>A p.A586T Missense 12/12 - 1
8-145140930-C-G c.1768C>G p.L590V Missense 12/12 - 1
8-145140933-G-A c.1771G>A p.E591K Missense 12/12 - 1
8-145140933-G-C c.1771G>C p.E591Q Missense 12/12 - 1
8-145140933-G-T c.1771G>T p.E591* Nonsense 12/12 - 1
8-145140934-A-G c.1772A>G p.E591G Missense 12/12 - 1
8-145140937-A-C c.1775A>C p.H592P Missense 12/12 - 1
8-145140942-A-T c.1780A>T p.T594S Missense 12/12 - 1
8-145140943-C-A c.1781C>A p.T594N Missense 12/12 - 1
8-145140943-C-G c.1781C>G p.T594S Missense 12/12 - 1
8-145140944-C-A c.1782C>A p.T594= Synonymous 12/12 - 1
8-145140944-C-G c.1782C>G p.T594= Synonymous 12/12 - 1
8-145140944-C-T c.1782C>T p.T594= Synonymous 12/12 - 2
8-145140946-A-T c.1784A>T p.Y595F Missense 12/12 - 1
8-145140950-C-A c.1788C>A p.G596= Synonymous 12/12 - 2
8-145140950-C-G c.1788C>G p.G596= Synonymous 12/12 - 2
8-145140950-C-T c.1788C>T p.G596= Synonymous 12/12 - 2
8-145140951-G-A c.1789G>A p.A597T Missense 12/12 - 1
8-145140957-C-A c.1795C>A p.L599I Missense 12/12 - 1
8-145140965-A-C c.1803A>C p.P601= Synonymous 12/12 - 1
8-145140965-A-G c.1803A>G p.P601= Synonymous 12/12 - 1
8-145140965-A-T c.1803A>T p.P601= Synonymous 12/12 - 1
8-145140970-T-A c.1808T>A p.L603Q Missense 12/12 - 1
8-145140969-C-T c.1807C>T p.L603= Synonymous 12/12 - 1
8-145140971-G-A c.1809G>A p.L603= Synonymous 12/12 - 1
8-145140971-G-C c.1809G>C p.L603= Synonymous 12/12 - 1
8-145140971-G-T c.1809G>T p.L603= Synonymous 12/12 - 1
8-145140988-C-T c.1826C>T p.P609L Missense 12/12 - 3
8-145140992-C-A c.1830C>A p.C610* Nonsense 12/12 - 1
8-145140993-T-A c.1831T>A p.W611R Missense 12/12 - 1
8-145140993-T-C c.1831T>C p.W611R Missense 12/12 - 2
8-145140996-C-A c.1834C>A p.L612M Missense 12/12 - 2
8-145141002-T-C c.1840T>C p.F614L Missense 12/12 - 1
8-145141004-C-A c.1842C>A p.F614L Missense 12/12 - 1
8-145141004-C-G c.1842C>G p.F614L Missense 12/12 - 1
8-145141011-GTG-TTT c.1849_1851delinsTTT p.V617F Missense 12/12 - 1
8-145141014-C-T c.1852C>T p.L618F Missense 12/12 - 1
8-145141019-C-T c.1857C>T p.F619= Synonymous 12/12 - 2
8-145141021-G-A c.1859G>A p.W620* Nonsense 12/12 - 1
8-145141022-G-C c.1860G>C p.W620C Missense 12/12 - 1
8-145141022-G-T c.1860G>T p.W620C Missense 12/12 - 1
8-145141025-G-T c.1863G>T p.K621N Missense 12/12 - 4