CHRNB2

CHRNB2 cholinergic receptor nicotinic beta 2 subunit

Annotation transcript: NM_000748.3

705 unique variant annotations were identified in 451 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
1-154540468-C-A c.-53C>A - 5-UTRSNV 1/6 - 8
1-154540468-C-G c.-53C>G - 5-UTRSNV 1/6 - 8
1-154540468-C-T c.-53C>T - 5-UTRSNV 1/6 - 8
1-154540527-C-T c.7C>T p.R3W Missense 1/6 - 1
1-154540537-G-A c.17G>A p.G6D Missense 1/6 - 1
1-154540537-G-T c.17G>T p.G6V Missense 1/6 - 2
1-154540562-C-T c.42C>T p.F14= Synonymous 1/6 - 1
1-154540641-T-C c.64+57T>C - IntronicSNV - 1/5 1
1-154540717-A-G c.64+133A>G - IntronicSNV - 1/5 1
1-154540865-G-T c.64+281G>T - IntronicSNV - 1/5 1
1-154541717-G-A c.65-221G>A - IntronicSNV - 1/5 1
1-154541938-G-A c.65G>A p.G22E Missense 2/6 - 1
1-154541938-G-T c.65G>T p.G22V Missense 2/6 - 1
1-154541940-G-A c.67G>A p.V23M Missense 2/6 - 2
1-154541944-G-A c.71G>A p.W24* Nonsense 2/6 - 1
1-154541946-G-C c.73G>C p.G25R Missense 2/6 - 2
1-154541950-C-T c.77C>T p.T26M Missense 2/6 - 5
1-154541951-G-A c.78G>A p.T26= Synonymous 2/6 - 1
1-154541952-G-A c.79G>A p.D27N Missense 2/6 - 1
1-154541961-G-A c.88G>A p.E30K Missense 2/6 - 3
1-154541964-C-A c.91C>A p.R31= Synonymous 2/6 - 1
1-154541964-CGG-TGT c.91_93delinsTGT p.R31C Missense 2/6 - 1
1-154541964-C-T c.91C>T p.R31W Missense 2/6 - 3
1-154541965-G-A c.92G>A p.R31Q Missense 2/6 - 3
1-154541965-GG-AT c.92_93delinsAT p.R31H Missense 2/6 - 1
1-154541969-G-A c.96G>A p.L32= Synonymous 2/6 - 1
1-154541970-G-A c.97G>A p.V33M Missense 2/6 - 1
1-154541971-T-G c.98T>G p.V33G Missense 2/6 - 11
1-154541973-G-A c.100G>A p.E34K Missense 2/6 - 1
1-154541974-A-G c.101A>G p.E34G Missense 2/6 - 1
1-154541978-T-A c.105T>A p.H35Q Missense 2/6 - 3
1-154541978-T-G c.105T>G p.H35Q Missense 2/6 - 1
1-154541979-C-G c.106C>G p.L36V Missense 2/6 - 1
1-154541979-C-T c.106C>T p.L36F Missense 2/6 - 1
1-154541989-C-T c.116C>T p.P39L Missense 2/6 - 1
1-154541994-C-T c.121C>T p.R41C Missense 2/6 - 1
1-154541995-G-A c.122G>A p.R41H Missense 2/6 - 1
1-154541997-T-G c.124T>G p.Y42D Missense 2/6 - 1
1-154542002-C-T c.129C>T p.N43= Synonymous 2/6 - 1
1-154542007-T-G c.134T>G p.L45R Missense 2/6 - 1
1-154542010-T-C c.137T>C p.I46T Missense 2/6 - 1
1-154542011-C-T c.138C>T p.I46= Synonymous 2/6 - 1
1-154542010-TC-T c.139del p.R47Afs*10 Frameshift 2/6 - 1
1-154542012-C-T c.139C>T p.R47C Missense 2/6 - 3
1-154542013-G-A c.140G>A p.R47H Missense 2/6 - 2
1-154542027-G-A c.154G>A p.G52S Missense 2/6 - 1
1-154542028-G-A c.155G>A p.G52D Missense 2/6 - 3
1-154542031-C-A c.158C>A p.S53Y Missense 2/6 - 1
1-154542033-G-A c.160G>A p.E54K Missense 2/6 - 1
1-154542033-G-T c.160G>T p.E54* Nonsense 2/6 - 1
1-154542039-G-C c.166G>C p.V56L Missense 2/6 - 1
1-154542039-G-T c.166G>T p.V56L Missense 2/6 - 1
1-154542041-G-A c.168G>A p.V56= Synonymous 2/6 - 1
1-154542042-A-C c.169A>C p.T57P Missense 2/6 - 1
1-154542048-C-T c.175C>T p.Q59* Nonsense 2/6 - 3
1-154542051-C-T c.178C>T p.L60F Missense 2/6 - 2
1-154542065-G-C c.192G>C p.L64= Synonymous 2/6 - 1
1-154542076-T-C c.203T>C p.I68T Missense 2/6 - 1
1-154542076-T-G c.203T>G p.I68S Missense 2/6 - 1
1-154542077-C-A c.204C>A p.I68= Synonymous 2/6 - 1
1-154542077-C-T c.204C>T p.I68= Synonymous 2/6 - 1
1-154542080-T-C c.207T>C p.S69= Synonymous 2/6 - 1
1-154542085-T-A c.210+2T>A - IntronicSNV - 2/5 1
1-154542087-A-T c.210+4A>T - IntronicSNV - 2/5 1
1-154542092-A-G c.210+9A>G - IntronicSNV - 2/5 3
1-154542270-T-C c.213T>C p.H71= Synonymous 3/6 - 1
1-154542270-T-G c.213T>G p.H71Q Missense 3/6 - 1
1-154542274-C-A c.217C>A p.R73= Synonymous 3/6 - 1
1-154542274-C-T c.217C>T p.R73W Missense 3/6 - 5
1-154542276-G-A c.219G>A p.R73= Synonymous 3/6 - 1
1-154542276-G-C c.219G>C p.R73= Synonymous 3/6 - 1
1-154542276-G-T c.219G>T p.R73= Synonymous 3/6 - 1
1-154542275-G-A c.218G>A p.R73Q Missense 3/6 - 3
1-154542285-C-T c.228C>T p.I76= Synonymous 3/6 - 1
1-154542288-G-A c.231G>A p.M77I Missense 3/6 - 1
1-154542288-G-C c.231G>C p.M77I Missense 3/6 - 1
1-154542288-G-T c.231G>T p.M77I Missense 3/6 - 1
1-154542290-C-T c.233C>T p.T78I Missense 3/6 - 1
1-154542293-C-A c.236C>A p.T79N Missense 3/6 - 1
1-154542297-T-C c.240T>C p.N80= Synonymous 3/6 - 3
1-154542298-G-A c.241G>A p.V81I Missense 3/6 - 1
1-154542298-G-T c.241G>T p.V81F Missense 3/6 - 2
1-154542300-C-A c.243C>A p.V81= Synonymous 3/6 - 1
1-154542302-G-A c.245G>A p.W82* Nonsense 3/6 - 1
1-154542303-G-A c.246G>A p.W82* Nonsense 3/6 - 1
1-154542304-C-T c.247C>T p.L83= Synonymous 3/6 - 1
1-154542306-G-A c.249G>A p.L83= Synonymous 3/6 - 1
1-154542306-G-C c.249G>C p.L83= Synonymous 3/6 - 1
1-154542306-G-T c.249G>T p.L83= Synonymous 3/6 - 1
1-154542310-C-A c.253C>A p.Q85K Missense 3/6 - 1
1-154542318-C-T c.255+6C>T - IntronicSNV - 3/5 1
1-154542319-G-A c.255+7G>A - IntronicSNV - 3/5 2
1-154542319-G-C c.255+7G>C - IntronicSNV - 3/5 1
1-154542319-G-T c.255+7G>T - IntronicSNV - 3/5 1
1-154542333-CCACCCA-C c.255+27_255+32del - IntronicDeletion - 3/5 1
1-154542734-G-C c.256G>C p.E86Q Missense 4/6 - 1
1-154542739-G-C c.261G>C p.W87C Missense 4/6 - 1
1-154542739-G-T c.261G>T p.W87C Missense 4/6 - 1
1-154542740-G-C c.262G>C p.E88Q Missense 4/6 - 1
1-154542742-A-C c.264A>C p.E88D Missense 4/6 - 1
1-154542749-C-T c.271C>T p.R91C Missense 4/6 - 3
1-154542750-G-A c.272G>A p.R91H Missense 4/6 - 6
1-154542755-A-T c.277A>T p.T93S Missense 4/6 - 1
1-154542773-T-C c.295T>C p.F99L Missense 4/6 - 1
1-154542775-T-A c.297T>A p.F99L Missense 4/6 - 1
1-154542775-T-G c.297T>G p.F99L Missense 4/6 - 1
1-154542774-T-G c.296T>G p.F99C Missense 4/6 - 2
1-154542775-T-C c.297T>C p.F99= Synonymous 4/6 - 1
1-154542778-C-A c.300C>A p.D100E Missense 4/6 - 5
1-154542778-C-G c.300C>G p.D100E Missense 4/6 - 7
1-154542782-A-T c.304A>T p.M102L Missense 4/6 - 1
1-154542783-T-C c.305T>C p.M102T Missense 4/6 - 2
1-154542784-G-A c.306G>A p.M102I Missense 4/6 - 1
1-154542791-GTT-ATG c.313_315delinsATG p.V105M Missense 4/6 - 1
1-154542794-C-A c.316C>A p.R106= Synonymous 4/6 - 1
1-154542794-C-T c.316C>T p.R106W Missense 4/6 - 11
1-154542799-C-G c.321C>G p.L107= Synonymous 4/6 - 1
1-154542799-C-T c.321C>T p.L107= Synonymous 4/6 - 1
1-154542803-T-G c.325T>G p.S109A Missense 4/6 - 1
1-154542804-C-A c.326C>A p.S109Y Missense 4/6 - 1
1-154542804-C-G c.326C>G p.S109C Missense 4/6 - 3
1-154542807-AA-GC c.329_330delinsGC p.K110S Missense 4/6 - 1
1-154542807-A-C c.329A>C p.K110T Missense 4/6 - 1
1-154542809-C-T c.331C>T p.H111Y Missense 4/6 - 1
1-154542815-T-A c.337T>A p.W113R Missense 4/6 - 1
1-154542818-C-G c.340C>G p.L114V Missense 4/6 - 1
1-154542818-C-T c.340C>T p.L114F Missense 4/6 - 3
1-154542821-C-G c.343C>G p.P115A Missense 4/6 - 1
1-154542821-C-T c.343C>T p.P115S Missense 4/6 - 1
1-154542822-C-A c.344C>A p.P115Q Missense 4/6 - 1
1-154542824-G-A c.346G>A p.D116N Missense 4/6 - 2
1-154542830-G-C c.352G>C p.V118L Missense 4/6 - 1
1-154542833-C-A c.355C>A p.L119M Missense 4/6 - 1
1-154542845-T-C c.365+2T>C - IntronicSNV - 4/5 1
1-154543587-C-T c.366-78C>T - IntronicSNV - 4/5 1
1-154543671-C-T c.372C>T p.D124= Synonymous 5/6 - 4
1-154543672-G-A c.373G>A p.G125S Missense 5/6 - 9
1-154543672-G-T c.373G>T p.G125C Missense 5/6 - 1
1-154543673-G-C c.374G>C p.G125A Missense 5/6 - 1
1-154543675-A-G c.376A>G p.M126V Missense 5/6 - 1
1-154543676-T-C c.377T>C p.M126T Missense 5/6 - 1
1-154543676-T-G c.377T>G p.M126R Missense 5/6 - 2
1-154543677-G-A c.378G>A p.M126I Missense 5/6 - 2
1-154543677-G-C c.378G>C p.M126I Missense 5/6 - 2
1-154543677-G-T c.378G>T p.M126I Missense 5/6 - 2
1-154543680-C-A c.381C>A p.Y127* Nonsense 5/6 - 1
1-154543680-C-T c.381C>T p.Y127= Synonymous 5/6 - 1
1-154543681-G-A c.382G>A p.E128K Missense 5/6 - 1
1-154543683-G-A c.384G>A p.E128= Synonymous 5/6 - 1
1-154543684-G-A c.385G>A p.V129M Missense 5/6 - 1
1-154543686-G-C c.387G>C p.V129= Synonymous 5/6 - 1
1-154543688-C-T c.389C>T p.S130F Missense 5/6 - 1
1-154543690-T-C c.391T>C p.F131L Missense 5/6 - 1
1-154543692-C-A c.393C>A p.F131L Missense 5/6 - 1
1-154543692-C-G c.393C>G p.F131L Missense 5/6 - 1
1-154543694-A-G c.395A>G p.Y132C Missense 5/6 - 2
1-154543697-C-G c.398C>G p.S133C Missense 5/6 - 1
1-154543697-C-T c.398C>T p.S133F Missense 5/6 - 1
1-154543703-C-T c.404C>T p.A135V Missense 5/6 - 3
1-154543704-C-A c.405C>A p.A135= Synonymous 5/6 - 3
1-154543704-C-G c.405C>G p.A135= Synonymous 5/6 - 4
1-154543704-C-T c.405C>T p.A135= Synonymous 5/6 - 5
1-154543705-G-A c.406G>A p.V136M Missense 5/6 - 1
1-154543705-GTG-CAT c.406_408delinsCAT p.V136H Missense 5/6 - 1
1-154543709-T-C c.410T>C p.V137A Missense 5/6 - 1
1-154543710-C-A c.411C>A p.V137= Synonymous 5/6 - 1
1-154543710-C-G c.411C>G p.V137= Synonymous 5/6 - 1
1-154543710-C-T c.411C>T p.V137= Synonymous 5/6 - 1
1-154543715-A-G c.416A>G p.Y139C Missense 5/6 - 2
1-154543717-G-A c.418G>A p.D140N Missense 5/6 - 1
1-154543718-A-G c.419A>G p.D140G Missense 5/6 - 2
1-154543725-C-T c.426C>T p.S142= Synonymous 5/6 - 2
1-154543726-A-G c.427A>G p.I143V Missense 5/6 - 1
1-154543728-C-T c.429C>T p.I143= Synonymous 5/6 - 1
1-154543731-C-T c.432C>T p.F144= Synonymous 5/6 - 2
1-154543735-CT-AC c.436_437delinsAC p.L146T Missense 5/6 - 1
1-154543739-C-T c.440C>T p.P147L Missense 5/6 - 1
1-154543740-G-A c.441G>A p.P147= Synonymous 5/6 - 4
1-154543740-G-C c.441G>C p.P147= Synonymous 5/6 - 3
1-154543740-G-T c.441G>T p.P147= Synonymous 5/6 - 3
1-154543744-G-A c.445G>A p.A149T Missense 5/6 - 1
1-154543747-A-G c.448A>G p.I150V Missense 5/6 - 1
1-154543748-T-A c.449T>A p.I150N Missense 5/6 - 1
1-154543749-C-G c.450C>G p.I150M Missense 5/6 - 1
1-154543750-T-C c.451T>C p.Y151H Missense 5/6 - 1
1-154543758-C-G c.459C>G p.S153R Missense 5/6 - 1
1-154543758-C-T c.459C>T p.S153= Synonymous 5/6 - 1
1-154543759-G-A c.460G>A p.A154T Missense 5/6 - 2
1-154543761-A-C c.462A>C p.A154= Synonymous 5/6 - 1
1-154543761-A-G c.462A>G p.A154= Synonymous 5/6 - 1
1-154543761-A-T c.462A>T p.A154= Synonymous 5/6 - 1
1-154543762-T-C c.463T>C p.C155R Missense 5/6 - 2
1-154543763-G-A c.464G>A p.C155Y Missense 5/6 - 2
1-154543767-G-A c.468G>A p.K156= Synonymous 5/6 - 1
1-154543767-G-C c.468G>C p.K156N Missense 5/6 - 3
1-154543767-G-T c.468G>T p.K156N Missense 5/6 - 5
1-154543773-A-G c.474A>G p.E158= Synonymous 5/6 - 1
1-154543776-A-G c.477A>G p.V159= Synonymous 5/6 - 1
1-154543782-C-T c.483C>T p.H161= Synonymous 5/6 - 3
1-154543787-C-A c.488C>A p.P163Q Missense 5/6 - 2
1-154543789-T-C c.490T>C p.F164L Missense 5/6 - 1
1-154543791-T-A c.492T>A p.F164L Missense 5/6 - 1
1-154543791-T-G c.492T>G p.F164L Missense 5/6 - 1
1-154543798-C-A c.499C>A p.Q167K Missense 5/6 - 2
1-154543800-G-A c.501G>A p.Q167= Synonymous 5/6 - 1
1-154543801-A-G c.502A>G p.N168D Missense 5/6 - 1
1-154543814-A-G c.515A>G p.K172R Missense 5/6 - 1
1-154543818-C-T c.519C>T p.F173= Synonymous 5/6 - 2
1-154543819-C-G c.520C>G p.R174G Missense 5/6 - 2
1-154543819-C-T c.520C>T p.R174C Missense 5/6 - 12
1-154543820-G-A c.521G>A p.R174H Missense 5/6 - 1
1-154543823-C-G c.524C>G p.S175W Missense 5/6 - 1
1-154543823-C-T c.524C>T p.S175L Missense 5/6 - 6
1-154543824-G-A c.525G>A p.S175= Synonymous 5/6 - 1
1-154543824-G-C c.525G>C p.S175= Synonymous 5/6 - 1
1-154543824-G-T c.525G>T p.S175= Synonymous 5/6 - 1
1-154543828-A-G c.529A>G p.T177A Missense 5/6 - 1
1-154543833-C-A c.534C>A p.Y178* Nonsense 5/6 - 2
1-154543833-C-G c.534C>G p.Y178* Nonsense 5/6 - 1
1-154543833-C-T c.534C>T p.Y178= Synonymous 5/6 - 1
1-154543834-G-A c.535G>A p.D179N Missense 5/6 - 1
1-154543835-A-G c.536A>G p.D179G Missense 5/6 - 1
1-154543835-A-T c.536A>T p.D179V Missense 5/6 - 1
1-154543837-C-G c.538C>G p.R180G Missense 5/6 - 1
1-154543837-C-T c.538C>T p.R180C Missense 5/6 - 5
1-154543838-G-A c.539G>A p.R180H Missense 5/6 - 7
1-154543838-GCA-G c.542_543del p.T181Rfs*9 Frameshift 5/6 - 1
1-154543841-C-T c.542C>T p.T181I Missense 5/6 - 1
1-154543843-G-C c.544G>C p.E182Q Missense 5/6 - 3
1-154543845-G-T c.546G>T p.E182D Missense 5/6 - 1
1-154543846-A-T c.547A>T p.I183F Missense 5/6 - 1
1-154543848-C-G c.549C>G p.I183M Missense 5/6 - 1
1-154543848-C-T c.549C>T p.I183= Synonymous 5/6 - 2
1-154543849-G-A c.550G>A p.D184N Missense 5/6 - 2
1-154543849-G-T c.550G>T p.D184Y Missense 5/6 - 1
1-154543851-C-A c.552C>A p.D184E Missense 5/6 - 1
1-154543851-C-G c.552C>G p.D184E Missense 5/6 - 1
1-154543852-T-TC c.553_554insC p.L185Sfs*6 Frameshift 5/6 - 2
1-154543858-C-T c.559C>T p.L187= Synonymous 5/6 - 1
1-154543860-G-A c.561G>A p.L187= Synonymous 5/6 - 1
1-154543860-G-C c.561G>C p.L187= Synonymous 5/6 - 1
1-154543860-G-T c.561G>T p.L187= Synonymous 5/6 - 1
1-154543863-G-C c.564G>C p.K188N Missense 5/6 - 1
1-154543863-G-T c.564G>T p.K188N Missense 5/6 - 2
1-154543864-A-C c.565A>C p.S189R Missense 5/6 - 1
1-154543869-G-C c.570G>C p.E190D Missense 5/6 - 2
1-154543869-G-T c.570G>T p.E190D Missense 5/6 - 4
1-154543870-G-A c.571G>A p.V191M Missense 5/6 - 1
1-154543874-C-T c.575C>T p.A192V Missense 5/6 - 1
1-154543879-C-A c.580C>A p.L194M Missense 5/6 - 3
1-154543884-C-T c.585C>T p.D195= Synonymous 5/6 - 1
1-154543885-G-A c.586G>A p.D196N Missense 5/6 - 6
1-154543890-C-T c.591C>T p.F197= Synonymous 5/6 - 3
1-154543892-C-T c.593C>T p.T198I Missense 5/6 - 1
1-154543898-G-A c.599G>A p.S200N Missense 5/6 - 1
1-154543907-G-A c.608G>A p.W203* Nonsense 5/6 - 1
1-154543908-G-A c.609G>A p.W203* Nonsense 5/6 - 1
1-154543912-A-G c.613A>G p.I205V Missense 5/6 - 1
1-154543914-C-G c.615C>G p.I205M Missense 5/6 - 1
1-154543915-G-A c.616G>A p.V206M Missense 5/6 - 3
1-154543915-G-T c.616G>T p.V206L Missense 5/6 - 1
1-154543916-T-G c.617T>G p.V206G Missense 5/6 - 1
1-154543917-G-A c.618G>A p.V206= Synonymous 5/6 - 1
1-154543917-G-C c.618G>C p.V206= Synonymous 5/6 - 1
1-154543917-G-T c.618G>T p.V206= Synonymous 5/6 - 2
1-154543919-C-A c.620C>A p.A207E Missense 5/6 - 1
1-154543919-C-G c.620C>G p.A207G Missense 5/6 - 1
1-154543919-C-T c.620C>T p.A207V Missense 5/6 - 7
1-154543921-C-T c.622C>T p.L208= Synonymous 5/6 - 1
1-154543923-G-A c.624G>A p.L208= Synonymous 5/6 - 1
1-154543923-G-C c.624G>C p.L208= Synonymous 5/6 - 1
1-154543923-G-T c.624G>T p.L208= Synonymous 5/6 - 1
1-154543925-C-T c.626C>T p.P209L Missense 5/6 - 1
1-154543928-G-A c.629G>A p.G210D Missense 5/6 - 1
1-154543928-G-C c.629G>C p.G210A Missense 5/6 - 1
1-154543930-C-A c.631C>A p.R211= Synonymous 5/6 - 1
1-154543930-C-T c.631C>T p.R211W Missense 5/6 - 2
1-154543931-G-A c.632G>A p.R211Q Missense 5/6 - 3
1-154543933-C-T c.634C>T p.R212C Missense 5/6 - 3
1-154543934-G-A c.635G>A p.R212H Missense 5/6 - 3
1-154543935-C-A c.636C>A p.R212= Synonymous 5/6 - 1
1-154543935-C-G c.636C>G p.R212= Synonymous 5/6 - 1
1-154543935-C-T c.636C>T p.R212= Synonymous 5/6 - 1
1-154543936-A-C c.637A>C p.N213H Missense 5/6 - 1
1-154543938-C-T c.639C>T p.N213= Synonymous 5/6 - 1
1-154543939-G-A c.640G>A p.E214K Missense 5/6 - 5
1-154543941-G-C c.642G>C p.E214D Missense 5/6 - 1
1-154543941-G-T c.642G>T p.E214D Missense 5/6 - 1
1-154543943-A-G c.644A>G p.N215S Missense 5/6 - 1
1-154543945-CC-TT c.646_647delinsTT p.P216F Missense 5/6 - 2
1-154543947-C-A c.648C>A p.P216= Synonymous 5/6 - 1
1-154543947-C-T c.648C>T p.P216= Synonymous 5/6 - 1
1-154543948-G-A c.649G>A p.D217N Missense 5/6 - 1
1-154543950-C-T c.651C>T p.D217= Synonymous 5/6 - 1
1-154543951-G-A c.652G>A p.D218N Missense 5/6 - 2
1-154543953-C-A c.654C>A p.D218E Missense 5/6 - 1
1-154543953-C-G c.654C>G p.D218E Missense 5/6 - 1
1-154543958-C-T c.659C>T p.T220M Missense 5/6 - 1
1-154543959-G-A c.660G>A p.T220= Synonymous 5/6 - 2
1-154543959-G-C c.660G>C p.T220= Synonymous 5/6 - 1
1-154543959-G-T c.660G>T p.T220= Synonymous 5/6 - 1
1-154543963-G-A c.664G>A p.V222M Missense 5/6 - 1
1-154543966-G-A c.667G>A p.D223N Missense 5/6 - 1
1-154543969-A-G c.670A>G p.I224V Missense 5/6 - 1
1-154543971-C-A c.672C>A p.I224= Synonymous 5/6 - 1
1-154543971-C-T c.672C>T p.I224= Synonymous 5/6 - 3
1-154543972-A-C c.673A>C p.T225P Missense 5/6 - 1
1-154543973-C-A c.674C>A p.T225K Missense 5/6 - 1
1-154543973-C-T c.674C>T p.T225M Missense 5/6 - 3
1-154543982-T-C c.683T>C p.F228S Missense 5/6 - 1
1-154543986-C-A c.687C>A p.I229= Synonymous 5/6 - 3
1-154543986-C-G c.687C>G p.I229M Missense 5/6 - 1
1-154543986-C-T c.687C>T p.I229= Synonymous 5/6 - 4
1-154543990-C-A c.691C>A p.R231S Missense 5/6 - 1
1-154543990-C-T c.691C>T p.R231C Missense 5/6 - 1
1-154543991-G-A c.692G>A p.R231H Missense 5/6 - 4
1-154543992-C-A c.693C>A p.R231= Synonymous 5/6 - 1
1-154543992-C-G c.693C>G p.R231= Synonymous 5/6 - 1
1-154543992-C-T c.693C>T p.R231= Synonymous 5/6 - 1
1-154543993-C-T c.694C>T p.R232C Missense 5/6 - 2
1-154543994-G-A c.695G>A p.R232H Missense 5/6 - 4
1-154543994-G-T c.695G>T p.R232L Missense 5/6 - 2
1-154543995-C-CA c.698dup p.P234Afs*136 Frameshift 5/6 - 2
1-154543997-A-AG c.699dup p.P234Afs*136 Frameshift 5/6 - 2
1-154544000-C-T c.701C>T p.P234L Missense 5/6 - 5
1-154544001-G-A c.702G>A p.P234= Synonymous 5/6 - 3
1-154544001-G-C c.702G>C p.P234= Synonymous 5/6 - 2
1-154544001-G-T c.702G>T p.P234= Synonymous 5/6 - 2
1-154544002-C-T c.703C>T p.L235F Missense 5/6 - 3
1-154544005-T-C c.706T>C p.F236L Missense 5/6 - 1
1-154544007-C-A c.708C>A p.F236L Missense 5/6 - 1
1-154544007-C-G c.708C>G p.F236L Missense 5/6 - 2
1-154544007-C-T c.708C>T p.F236= Synonymous 5/6 - 1
1-154544009-A-G c.710A>G p.Y237C Missense 5/6 - 1
1-154544014-A-G c.715A>G p.I239V Missense 5/6 - 1
1-154544018-A-G c.719A>G p.N240S Missense 5/6 - 1
1-154544019-C-T c.720C>T p.N240= Synonymous 5/6 - 1
1-154544025-C-T c.726C>T p.I242= Synonymous 5/6 - 2
1-154544027-T-C c.728T>C p.I243T Missense 5/6 - 1
1-154544028-C-A c.729C>A p.I243= Synonymous 5/6 - 2
1-154544028-C-T c.729C>T p.I243= Synonymous 5/6 - 4
1-154544029-C-T c.730C>T p.P244S Missense 5/6 - 1
1-154544030-C-T c.731C>T p.P244L Missense 5/6 - 1
1-154544031-C-A c.732C>A p.P244= Synonymous 5/6 - 1
1-154544031-C-G c.732C>G p.P244= Synonymous 5/6 - 1
1-154544031-C-T c.732C>T p.P244= Synonymous 5/6 - 4
1-154544033-G-T c.734G>T p.C245F Missense 5/6 - 2
1-154544033-TG-T c.734del p.C245Lfs*7 Frameshift 5/6 - 1
1-154544035-G-A c.736G>A p.V246M Missense 5/6 - 1
1-154544044-A-C c.745A>C p.T249P Missense 5/6 - 1
1-154544048-C-A c.749C>A p.S250* Nonsense 5/6 - 3
1-154544048-C-T c.749C>T p.S250L Missense 5/6 - 4
1-154544049-G-A c.750G>A p.S250= Synonymous 5/6 - 2
1-154544049-G-C c.750G>C p.S250= Synonymous 5/6 - 2
1-154544049-G-T c.750G>T p.S250= Synonymous 5/6 - 2
1-154544053-G-T c.754G>T p.A252S Missense 5/6 - 1
1-154544053-G-GCCCAT c.756_757insCATCC p.I253Hfs*16 Frameshift 5/6 - 1
1-154544056-A-T c.757A>T p.I253F Missense 5/6 - 1
1-154544057-T-C c.758T>C p.I253T Missense 5/6 - 3
1-154544062-G-A c.763G>A p.V255I Missense 5/6 - 1
1-154544075-C-T c.776C>T p.P259L Missense 5/6 - 1
1-154544079-C-T c.780C>T p.S260= Synonymous 5/6 - 2
1-154544080-G-A c.781G>A p.D261N Missense 5/6 - 1
1-154544084-G-A c.785G>A p.C262Y Missense 5/6 - 1
1-154544085-T-A c.786T>A p.C262* Nonsense 5/6 - 1
1-154544087-G-A c.788G>A p.G263D Missense 5/6 - 5
1-154544087-G-T c.788G>T p.G263V Missense 5/6 - 1
1-154544088-C-T c.789C>T p.G263= Synonymous 5/6 - 1
1-154544089-G-A c.790G>A p.E264K Missense 5/6 - 2
1-154544089-GAGA-G c.794_796del p.K265del InFrameDeletion 5/6 - 1
1-154544096-T-C c.797T>C p.M266T Missense 5/6 - 1
1-154544097-G-A c.798G>A p.M266I Missense 5/6 - 1
1-154544099-C-T c.800C>T p.T267M Missense 5/6 - 3
1-154544100-G-A c.801G>A p.T267= Synonymous 5/6 - 2
1-154544107-A-G c.808A>G p.I270V Missense 5/6 - 1
1-154544111-C-A c.812C>A p.S271* Nonsense 5/6 - 5
1-154544111-C-G c.812C>G p.S271* Nonsense 5/6 - 4
1-154544113-G-A c.814G>A p.V272M Missense 5/6 - 1
1-154544123-C-A c.824C>A p.A275E Missense 5/6 - 1
1-154544123-C-T c.824C>T p.A275V Missense 5/6 - 3
1-154544124-G-A c.825G>A p.A275= Synonymous 5/6 - 4
1-154544124-G-C c.825G>C p.A275= Synonymous 5/6 - 2
1-154544124-G-T c.825G>T p.A275= Synonymous 5/6 - 2
1-154544128-A-G c.829A>G p.T277A Missense 5/6 - 4
1-154544129-C-T c.830C>T p.T277M Missense 5/6 - 5
1-154544130-G-A c.831G>A p.T277= Synonymous 5/6 - 1
1-154544130-G-C c.831G>C p.T277= Synonymous 5/6 - 1
1-154544130-G-T c.831G>T p.T277= Synonymous 5/6 - 1
1-154544131-G-A c.832G>A p.V278I Missense 5/6 - 1
1-154544133-C-A c.834C>A p.V278= Synonymous 5/6 - 1
1-154544133-C-G c.834C>G p.V278= Synonymous 5/6 - 1
1-154544133-C-T c.834C>T p.V278= Synonymous 5/6 - 1
1-154544137-CT-TC c.838_839delinsTC p.L280S Missense 5/6 - 1
1-154544138-T-C c.839T>C p.L280P Missense 5/6 - 1
1-154544144-T-G c.845T>G p.L282R Missense 5/6 - 1
1-154544145-C-A c.846C>A p.L282= Synonymous 5/6 - 1
1-154544145-C-G c.846C>G p.L282= Synonymous 5/6 - 1
1-154544145-C-T c.846C>T p.L282= Synonymous 5/6 - 1
1-154544149-TC-CT c.850_851delinsCT p.S284L Missense 5/6 - 7
1-154544150-C-G c.851C>G p.S284C Missense 5/6 - 1
1-154544150-C-T c.851C>T p.S284F Missense 5/6 - 1
1-154544151-C-A c.852C>A p.S284= Synonymous 5/6 - 1
1-154544151-C-G c.852C>G p.S284= Synonymous 5/6 - 1
1-154544151-C-T c.852C>T p.S284= Synonymous 5/6 - 1
1-154544157-C-A c.858C>A p.I286= Synonymous 5/6 - 3
1-154544157-C-T c.858C>T p.I286= Synonymous 5/6 - 7
1-154544158-G-A c.859G>A p.V287M Missense 5/6 - 14
1-154544158-G-C c.859G>C p.V287L Missense 5/6 - 19
1-154544158-G-T c.859G>T p.V287L Missense 5/6 - 17
1-154544160-G-A c.861G>A p.V287= Synonymous 5/6 - 2
1-154544160-G-C c.861G>C p.V287= Synonymous 5/6 - 1
1-154544160-G-T c.861G>T p.V287= Synonymous 5/6 - 1
1-154544162-C-T c.863C>T p.P288L Missense 5/6 - 1
1-154544164-C-T c.865C>T p.P289S Missense 5/6 - 4
1-154544168-CC-TG c.869_870delinsTG p.T290M Missense 5/6 - 1
1-154544172-C-T c.873C>T p.S291= Synonymous 5/6 - 1
1-154544175-C-A c.876C>A p.L292= Synonymous 5/6 - 2
1-154544175-C-G c.876C>G p.L292= Synonymous 5/6 - 2
1-154544175-C-T c.876C>T p.L292= Synonymous 5/6 - 3
1-154544176-G-A c.877G>A p.D293N Missense 5/6 - 1
1-154544178-C-T c.879C>T p.D293= Synonymous 5/6 - 2
1-154544179-G-A c.880G>A p.V294M Missense 5/6 - 2
1-154544179-G-C c.880G>C p.V294L Missense 5/6 - 1
1-154544179-G-T c.880G>T p.V294L Missense 5/6 - 2
1-154544180-T-A c.881T>A p.V294E Missense 5/6 - 1
1-154544182-C-T c.883C>T p.P295S Missense 5/6 - 3
1-154544183-C-T c.884C>T p.P295L Missense 5/6 - 2
1-154544183-C-CGACGAGCG c.885_886insACGAGCGG p.L296Tfs*43 Frameshift 5/6 - 1
1-154544184-G-A c.885G>A p.P295= Synonymous 5/6 - 1
1-154544186-T-A c.887T>A p.L296H Missense 5/6 - 1
1-154544187-C-T c.888C>T p.L296= Synonymous 5/6 - 1
1-154544188-G-A c.889G>A p.V297I Missense 5/6 - 1
1-154544190-C-A c.891C>A p.V297= Synonymous 5/6 - 1
1-154544191-G-A c.892G>A p.G298S Missense 5/6 - 2
1-154544191-G-T c.892G>T p.G298C Missense 5/6 - 1
1-154544200-C-G c.901C>G p.L301V Missense 5/6 - 9
1-154544202-C-A c.903C>A p.L301= Synonymous 5/6 - 1
1-154544202-C-G c.903C>G p.L301= Synonymous 5/6 - 1
1-154544202-C-T c.903C>T p.L301= Synonymous 5/6 - 2
1-154544209-CA-C c.910del p.T304Pfs*32 Frameshift 5/6 - 1
1-154544213-T-C c.914T>C p.M305T Missense 5/6 - 4
1-154544214-G-GT c.915_916insT p.V306Cfs*64 Frameshift 5/6 - 1
1-154544218-C-A c.919C>A p.L307I Missense 5/6 - 1
1-154544221-G-A c.922G>A p.V308I Missense 5/6 - 1
1-154544222-T-C c.923T>C p.V308A Missense 5/6 - 11
1-154544224-AC-GG c.925_926delinsGG p.T309G Missense 5/6 - 1
1-154544228-T-A c.929T>A p.F310Y Missense 5/6 - 1
1-154544231-C-T c.932C>T p.S311F Missense 5/6 - 2
1-154544235-C-G c.936C>G p.I312M Missense 5/6 - 19
1-154544235-C-T c.936C>T p.I312= Synonymous 5/6 - 2
1-154544236-G-A c.937G>A p.V313I Missense 5/6 - 3
1-154544237-T-C c.938T>C p.V313A Missense 5/6 - 1
1-154544242-A-T c.943A>T p.S315C Missense 5/6 - 6
1-154544244-C-T c.945C>T p.S315= Synonymous 5/6 - 1
1-154544245-G-A c.946G>A p.V316M Missense 5/6 - 9
1-154544245-G-T c.946G>T p.V316L Missense 5/6 - 1
1-154544250-C-G c.951C>G p.C317W Missense 5/6 - 1
1-154544251-G-A c.952G>A p.V318M Missense 5/6 - 2
1-154544253-G-A c.954G>A p.V318= Synonymous 5/6 - 2
1-154544253-G-C c.954G>C p.V318= Synonymous 5/6 - 1
1-154544253-G-T c.954G>T p.V318= Synonymous 5/6 - 1
1-154544255-T-A c.956T>A p.L319H Missense 5/6 - 1
1-154544256-C-T c.957C>T p.L319= Synonymous 5/6 - 1
1-154544260-G-A c.961G>A p.V321M Missense 5/6 - 2
1-154544260-G-C c.961G>C p.V321L Missense 5/6 - 1
1-154544263-C-A c.964C>A p.H322N Missense 5/6 - 1
1-154544263-C-T c.964C>T p.H322Y Missense 5/6 - 2
1-154544266-C-G c.967C>G p.H323D Missense 5/6 - 1
1-154544267-A-G c.968A>G p.H323R Missense 5/6 - 3
1-154544269-C-T c.970C>T p.R324C Missense 5/6 - 3
1-154544270-G-T c.971G>T p.R324L Missense 5/6 - 1
1-154544271-C-A c.972C>A p.R324= Synonymous 5/6 - 1
1-154544271-C-G c.972C>G p.R324= Synonymous 5/6 - 1
1-154544271-C-T c.972C>T p.R324= Synonymous 5/6 - 1
1-154544274-G-A c.975G>A p.S325= Synonymous 5/6 - 3
1-154544274-G-C c.975G>C p.S325= Synonymous 5/6 - 1
1-154544274-G-T c.975G>T p.S325= Synonymous 5/6 - 1
1-154544280-C-T c.981C>T p.T327= Synonymous 5/6 - 1
1-154544282-C-T c.983C>T p.T328M Missense 5/6 - 2
1-154544283-G-A c.984G>A p.T328= Synonymous 5/6 - 4
1-154544283-G-C c.984G>C p.T328= Synonymous 5/6 - 3
1-154544283-G-T c.984G>T p.T328= Synonymous 5/6 - 4
1-154544282-CGCACACCAT-C c.985_993del p.H329_M331del InFrameDeletion 5/6 - 2
1-154544290-A-G c.991A>G p.M331V Missense 5/6 - 2
1-154544294-C-T c.995C>T p.A332V Missense 5/6 - 5
1-154544295-G-A c.996G>A p.A332= Synonymous 5/6 - 5
1-154544295-G-C c.996G>C p.A332= Synonymous 5/6 - 2
1-154544295-G-T c.996G>T p.A332= Synonymous 5/6 - 2
1-154544297-C-G c.998C>G p.P333R Missense 5/6 - 1
1-154544302-G-A c.1003G>A p.V335M Missense 5/6 - 2
1-154544305-A-G c.1006A>G p.K336E Missense 5/6 - 1
1-154544309-T-G c.1010T>G p.V337G Missense 5/6 - 4
1-154544310-C-A c.1011C>A p.V337= Synonymous 5/6 - 1
1-154544310-C-T c.1011C>T p.V337= Synonymous 5/6 - 1
1-154544311-G-T c.1012G>T p.V338F Missense 5/6 - 1
1-154544314-T-C c.1015T>C p.F339L Missense 5/6 - 1
1-154544316-C-A c.1017C>A p.F339L Missense 5/6 - 1
1-154544316-C-G c.1017C>G p.F339L Missense 5/6 - 1
1-154544318-T-C c.1019T>C p.L340P Missense 5/6 - 1
1-154544319-G-A c.1020G>A p.L340= Synonymous 5/6 - 1
1-154544322-G-A c.1023G>A p.E341= Synonymous 5/6 - 1
1-154544325-G-C c.1026G>C p.K342N Missense 5/6 - 1
1-154544332-G-A c.1033G>A p.A345T Missense 5/6 - 1
1-154544333-C-T c.1034C>T p.A345V Missense 5/6 - 3
1-154544334-G-A c.1035G>A p.A345= Synonymous 5/6 - 1
1-154544335-C-T c.1036C>T p.L346= Synonymous 5/6 - 1
1-154544337-G-A c.1038G>A p.L346= Synonymous 5/6 - 1
1-154544337-G-C c.1038G>C p.L346= Synonymous 5/6 - 1
1-154544337-G-T c.1038G>T p.L346= Synonymous 5/6 - 1
1-154544338-C-T c.1039C>T p.L347F Missense 5/6 - 1
1-154544339-T-A c.1040T>A p.L347H Missense 5/6 - 1
1-154544339-T-C c.1040T>C p.L347P Missense 5/6 - 1
1-154544343-C-T c.1044C>T p.F348= Synonymous 5/6 - 2
1-154544344-A-G c.1045A>G p.M349V Missense 5/6 - 1
1-154544345-T-A c.1046T>A p.M349K Missense 5/6 - 1
1-154544345-T-C c.1046T>C p.M349T Missense 5/6 - 2
1-154544348-A-T c.1049A>T p.Q350L Missense 5/6 - 1
1-154544349-G-A c.1050G>A p.Q350= Synonymous 5/6 - 1
1-154544354-C-A c.1055C>A p.P352Q Missense 5/6 - 1
1-154544354-C-T c.1055C>T p.P352L Missense 5/6 - 1
1-154544357-G-C c.1058G>C p.R353P Missense 5/6 - 1
1-154544366-G-A c.1067G>A p.C356Y Missense 5/6 - 1
1-154544367-C-T c.1068C>T p.C356= Synonymous 5/6 - 1
1-154544374-C-A c.1075C>A p.Q359K Missense 5/6 - 1
1-154544378-G-A c.1079G>A p.R360H Missense 5/6 - 2
1-154544378-G-T c.1079G>T p.R360L Missense 5/6 - 1
1-154544383-C-T c.1084C>T p.R362C Missense 5/6 - 1
1-154544389-CG-TA c.1090_1091delinsTA p.R364* Nonsense 5/6 - 1
1-154544390-G-C c.1091G>C p.R364P Missense 5/6 - 1
1-154544393-G-A c.1094G>A p.R365Q Missense 5/6 - 6
1-154544396-G-A c.1097G>A p.R366H Missense 5/6 - 4
1-154544399-A-C c.1100A>C p.Q367P Missense 5/6 - 1
1-154544400-G-A c.1101G>A p.Q367= Synonymous 5/6 - 1
1-154544401-C-T c.1102C>T p.R368C Missense 5/6 - 1
1-154544402-G-A c.1103G>A p.R368H Missense 5/6 - 2
1-154544402-G-T c.1103G>T p.R368L Missense 5/6 - 2
1-154544404-G-A c.1105G>A p.E369K Missense 5/6 - 2
1-154544404-G-T c.1105G>T p.E369* Nonsense 5/6 - 1
1-154544409-C-T c.1110C>T p.R370= Synonymous 5/6 - 1
1-154544410-G-A c.1111G>A p.E371K Missense 5/6 - 3
1-154544413-G-A c.1114G>A p.G372S Missense 5/6 - 2
1-154544415-C-A c.1116C>A p.G372= Synonymous 5/6 - 1
1-154544415-C-G c.1116C>G p.G372= Synonymous 5/6 - 1
1-154544415-C-T c.1116C>T p.G372= Synonymous 5/6 - 3
1-154544416-G-A c.1117G>A p.A373T Missense 5/6 - 2
1-154544423-C-A c.1124C>A p.A375D Missense 5/6 - 1
1-154544424-C-A c.1125C>A p.A375= Synonymous 5/6 - 1
1-154544435-G-A c.1136G>A p.R379H Missense 5/6 - 1
1-154544436-C-A c.1137C>A p.R379= Synonymous 5/6 - 2
1-154544436-C-G c.1137C>G p.R379= Synonymous 5/6 - 1
1-154544436-C-T c.1137C>T p.R379= Synonymous 5/6 - 2
1-154544447-G-T c.1148G>T p.G383V Missense 5/6 - 1
1-154544450-C-T c.1151C>T p.A384V Missense 5/6 - 1
1-154544451-C-T c.1152C>T p.A384= Synonymous 5/6 - 1
1-154544452-G-A c.1153G>A p.D385N Missense 5/6 - 1
1-154544454-C-T c.1155C>T p.D385= Synonymous 5/6 - 1
1-154544456-C-G c.1157C>G p.S386C Missense 5/6 - 2
1-154544456-C-T c.1157C>T p.S386F Missense 5/6 - 1
1-154544460-C-A c.1161C>A p.C387* Nonsense 5/6 - 1
1-154544467-T-G c.1168T>G p.F390V Missense 5/6 - 1
1-154544470-G-C c.1171G>C p.V391L Missense 5/6 - 2
1-154544476-C-T c.1177C>T p.R393C Missense 5/6 - 1
1-154544477-G-A c.1178G>A p.R393H Missense 5/6 - 3
1-154544479-G-A c.1180G>A p.A394T Missense 5/6 - 1
1-154544480-C-A c.1181C>A p.A394E Missense 5/6 - 1
1-154544489-A-C c.1190A>C p.Q397P Missense 5/6 - 3
1-154544490-G-A c.1191G>A p.Q397= Synonymous 5/6 - 1
1-154544490-G-C c.1191G>C p.Q397H Missense 5/6 - 12
1-154544490-G-T c.1191G>T p.Q397H Missense 5/6 - 2
1-154544496-G-C c.1197G>C p.L399F Missense 5/6 - 1
1-154544496-G-T c.1197G>T p.L399F Missense 5/6 - 1
1-154544497-G-A c.1198G>A p.A400T Missense 5/6 - 1
1-154544499-C-A c.1200C>A p.A400= Synonymous 5/6 - 2
1-154544499-C-G c.1200C>G p.A400= Synonymous 5/6 - 2
1-154544499-C-T c.1200C>T p.A400= Synonymous 5/6 - 2
1-154544500-G-A c.1201G>A p.G401R Missense 5/6 - 1
1-154544500-G-C c.1201G>C p.G401R Missense 5/6 - 1
1-154544503-G-T c.1204G>T p.A402S Missense 5/6 - 2
1-154544511-G-A c.1212G>A p.G404= Synonymous 5/6 - 1
1-154544511-G-C c.1212G>C p.G404= Synonymous 5/6 - 1
1-154544511-G-T c.1212G>T p.G404= Synonymous 5/6 - 1
1-154544519-C-A c.1220C>A p.P407H Missense 5/6 - 1
1-154544521-G-A c.1222G>A p.A408T Missense 5/6 - 1
1-154544528-T-C c.1229T>C p.V410A Missense 5/6 - 2
1-154544530-G-C c.1231G>C p.A411P Missense 5/6 - 1
1-154544531-C-G c.1232C>G p.A411G Missense 5/6 - 1
1-154544531-C-T c.1232C>T p.A411V Missense 5/6 - 1
1-154544532-G-A c.1233G>A p.A411= Synonymous 5/6 - 3
1-154544533-G-A c.1234G>A p.G412S Missense 5/6 - 1
1-154544534-G-A c.1235G>A p.G412D Missense 5/6 - 4
1-154544548-G-A c.1249G>A p.G417R Missense 5/6 - 1
1-154544551-G-A c.1252G>A p.E418K Missense 5/6 - 1
1-154544552-A-G c.1253A>G p.E418G Missense 5/6 - 1
1-154544571-C-T c.1272C>T p.L424= Synonymous 5/6 - 2
1-154544572-C-T c.1273C>T p.R425W Missense 5/6 - 2
1-154544575-G-A c.1276G>A p.E426K Missense 5/6 - 2
1-154544576-A-G c.1277A>G p.E426G Missense 5/6 - 1
1-154544577-G-A c.1278G>A p.E426= Synonymous 5/6 - 1
1-154544578-GCG-ATC c.1279_1281delinsATC p.A427I Missense 5/6 - 1
1-154544580-G-A c.1281G>A p.A427= Synonymous 5/6 - 2
1-154544580-G-C c.1281G>C p.A427= Synonymous 5/6 - 1
1-154544580-G-T c.1281G>T p.A427= Synonymous 5/6 - 1
1-154544581-G-A c.1282G>A p.V428M Missense 5/6 - 1
1-154544589-C-T c.1290C>T p.G430= Synonymous 5/6 - 1
1-154544590-G-A c.1291G>A p.V431M Missense 5/6 - 1
1-154544590-G-C c.1291G>C p.V431L Missense 5/6 - 1
1-154544593-C-T c.1294C>T p.R432C Missense 5/6 - 2
1-154544605-G-A c.1306G>A p.D436N Missense 5/6 - 2
1-154544613-G-A c.1314G>A p.M438I Missense 5/6 - 1
1-154544616-G-C c.1317G>C p.R439= Synonymous 5/6 - 1
1-154544618-G-A c.1319G>A p.S440N Missense 5/6 - 1
1-154544620-G-A c.1321G>A p.E441K Missense 5/6 - 1
1-154544622-G-T c.1323G>T p.E441D Missense 5/6 - 1
1-154544626-G-A c.1327G>A p.D443N Missense 5/6 - 1
1-154544629-G-C c.1330G>C p.D444H Missense 5/6 - 1
1-154544634-G-C c.1335G>C p.Q445H Missense 5/6 - 1
1-154544638-G-A c.1338+1G>A - IntronicSNV - 5/5 2
1-154544640-G-T c.1338+3G>T - IntronicSNV - 5/5 1
1-154544651-G-A c.1338+14G>A - IntronicSNV - 5/5 16
1-154544651-G-T c.1338+14G>T - IntronicSNV - 5/5 19
1-154547292-A-C c.1339-946A>C - IntronicSNV - 5/5 1
1-154548222-C-T c.1339-16C>T - IntronicSNV - 5/5 1
1-154548238-G-A c.1339G>A p.V447M Missense 6/6 - 1
1-154548242-G-C c.1343G>C p.S448T Missense 6/6 - 1
1-154548242-G-T c.1343G>T p.S448I Missense 6/6 - 1
1-154548244-G-A c.1345G>A p.E449K Missense 6/6 - 1
1-154548252-G-A c.1353G>A p.W451* Nonsense 6/6 - 4
1-154548252-G-C c.1353G>C p.W451C Missense 6/6 - 2
1-154548258-C-G c.1359C>G p.Y453* Nonsense 6/6 - 1
1-154548258-C-T c.1359C>T p.Y453= Synonymous 6/6 - 3
1-154548259-G-A c.1360G>A p.V454I Missense 6/6 - 9
1-154548262-G-A c.1363G>A p.A455T Missense 6/6 - 3
1-154548267-G-A c.1368G>A p.M456I Missense 6/6 - 2
1-154548267-G-C c.1368G>C p.M456I Missense 6/6 - 1
1-154548267-G-T c.1368G>T p.M456I Missense 6/6 - 1
1-154548271-A-G c.1372A>G p.I458V Missense 6/6 - 1
1-154548273-C-A c.1374C>A p.I458= Synonymous 6/6 - 2
1-154548273-C-T c.1374C>T p.I458= Synonymous 6/6 - 2
1-154548274-G-A c.1375G>A p.D459N Missense 6/6 - 3
1-154548274-G-T c.1375G>T p.D459Y Missense 6/6 - 1
1-154548277-C-G c.1378C>G p.R460G Missense 6/6 - 6
1-154548277-C-T c.1378C>T p.R460C Missense 6/6 - 3
1-154548278-G-A c.1379G>A p.R460H Missense 6/6 - 6
1-154548280-C-T c.1381C>T p.L461F Missense 6/6 - 3
1-154548284-T-C c.1385T>C p.F462S Missense 6/6 - 1
1-154548288-C-A c.1389C>A p.L463= Synonymous 6/6 - 1
1-154548288-C-G c.1389C>G p.L463= Synonymous 6/6 - 1
1-154548288-C-T c.1389C>T p.L463= Synonymous 6/6 - 1
1-154548289-T-C c.1390T>C p.W464R Missense 6/6 - 5
1-154548289-T-G c.1390T>G p.W464G Missense 6/6 - 1
1-154548291-G-C c.1392G>C p.W464C Missense 6/6 - 1
1-154548294-C-G c.1395C>G p.I465M Missense 6/6 - 2
1-154548302-TTGTC-T c.1407_1410del p.C470Sfs*59 Frameshift 6/6 - 1
1-154548306-C-A c.1407C>A p.V469= Synonymous 6/6 - 1
1-154548306-C-G c.1407C>G p.V469= Synonymous 6/6 - 3
1-154548306-C-T c.1407C>T p.V469= Synonymous 6/6 - 1
1-154548307-T-G c.1408T>G p.C470G Missense 6/6 - 1
1-154548310-G-C c.1411G>C p.V471L Missense 6/6 - 1
1-154548313-T-G c.1414T>G p.F472V Missense 6/6 - 1
1-154548314-T-C c.1415T>C p.F472S Missense 6/6 - 3
1-154548318-C-T c.1419C>T p.G473= Synonymous 6/6 - 1
1-154548322-A-C c.1423A>C p.I475L Missense 6/6 - 2
1-154548322-A-G c.1423A>G p.I475V Missense 6/6 - 1
1-154548324-C-A c.1425C>A p.I475= Synonymous 6/6 - 1
1-154548324-C-T c.1425C>T p.I475= Synonymous 6/6 - 2
1-154548325-G-A c.1426G>A p.G476S Missense 6/6 - 3
1-154548326-G-A c.1427G>A p.G476D Missense 6/6 - 1
1-154548329-T-C c.1430T>C p.M477T Missense 6/6 - 1
1-154548331-T-C c.1432T>C p.F478L Missense 6/6 - 8
1-154548333-C-G c.1434C>G p.F478L Missense 6/6 - 2
1-154548333-C-A c.1434C>A p.F478L Missense 6/6 - 3
1-154548335-T-C c.1436T>C p.L479P Missense 6/6 - 1
1-154548338-A-T c.1439A>T p.Q480L Missense 6/6 - 1
1-154548339-G-C c.1440G>C p.Q480H Missense 6/6 - 1
1-154548339-G-T c.1440G>T p.Q480H Missense 6/6 - 2
1-154548343-C-G c.1444C>G p.L482V Missense 6/6 - 2
1-154548345-C-A c.1446C>A p.L482= Synonymous 6/6 - 1
1-154548345-C-G c.1446C>G p.L482= Synonymous 6/6 - 1
1-154548345-C-T c.1446C>T p.L482= Synonymous 6/6 - 1
1-154548350-A-T c.1451A>T p.Q484L Missense 6/6 - 1
1-154548359-C-A c.1460C>A p.T487N Missense 6/6 - 1
1-154548367-A-C c.1468A>C p.T490P Missense 6/6 - 1
1-154548373-C-T c.1474C>T p.L492F Missense 6/6 - 3
1-154548380-C-G c.1481C>G p.S494* Nonsense 6/6 - 1
1-154548382-G-A c.1483G>A p.D495N Missense 6/6 - 1
1-154548384-C-T c.1485C>T p.D495= Synonymous 6/6 - 1
1-154548386-A-C c.1487A>C p.H496P Missense 6/6 - 1
1-154548389-C-A c.1490C>A p.S497* Nonsense 6/6 - 1
1-154548389-C-G c.1490C>G p.S497* Nonsense 6/6 - 1
1-154548391-G-A c.1492G>A p.A498T Missense 6/6 - 1
1-154548395-C-T c.1496C>T p.P499L Missense 6/6 - 1
1-154548521-C-G c.*113C>G - 3-UTRSNV 6/6 - 17
1-154548721-T-C c.*313T>C - 3-UTRSNV 6/6 - 31
1-154548721-T-G c.*313T>G - 3-UTRSNV 6/6 - 31
1-154548880-G-A c.*472G>A - 3-UTRSNV 6/6 - 35
1-154548946-C-T c.*538C>T - 3-UTRSNV 6/6 - 5
1-154548992-C-T c.*584C>T - 3-UTRSNV 6/6 - 1
1-154549470-T-C c.*1062T>C - 3-UTRSNV 6/6 - 1
1-154549742-C-A c.*1334C>A - 3-UTRSNV 6/6 - 1
1-154549742-C-T c.*1334C>T - 3-UTRSNV 6/6 - 1
1-154550724-C-T c.*2316C>T - 3-UTRSNV 6/6 - 1
1-154551032-C-G c.*2624C>G - 3-UTRSNV 6/6 - 16
1-154551032-C-T c.*2624C>T - 3-UTRSNV 6/6 - 16
1-154551368-G-A c.*2960G>A - 3-UTRSNV 6/6 - 2
1-154551717-C-T c.*3309C>T - 3-UTRSNV 6/6 - 2