OR56A3

OR56A3 olfactory receptor family 56 subfamily A member 3

Annotation transcript: NM_001003443.3

689 unique variant annotations were identified in 244 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
11-5968540-G-A c.-36-1G>A - IntergenicSNV - 2/2 1
11-5968540-G-T c.-36-1G>T - IntergenicSNV - 2/2 1
11-5968579-G-A c.3G>A p.M1? Missense 3/3 - 1
11-5968579-G-C c.3G>C p.M1? Missense 3/3 - 1
11-5968579-G-T c.3G>T p.M1? Missense 3/3 - 1
11-5968580-A-G c.4A>G p.T2A Missense 3/3 - 1
11-5968581-C-G c.5C>G p.T2R Missense 3/3 - 1
11-5968581-C-T c.5C>T p.T2I Missense 3/3 - 1
11-5968585-A-T c.9A>T p.T3= Synonymous 3/3 - 1
11-5968586-C-T c.10C>T p.H4Y Missense 3/3 - 1
11-5968589-C-T c.13C>T p.R5* Nonsense 3/3 - 1
11-5968590-G-A c.14G>A p.R5Q Missense 3/3 - 4
11-5968591-A-G c.15A>G p.R5= Synonymous 3/3 - 1
11-5968595-G-A c.19G>A p.D7N Missense 3/3 - 2
11-5968597-C-T c.21C>T p.D7= Synonymous 3/3 - 1
11-5968599-C-T c.23C>T p.T8I Missense 3/3 - 2
11-5968600-C-A c.24C>A p.T8= Synonymous 3/3 - 1
11-5968600-C-G c.24C>G p.T8= Synonymous 3/3 - 1
11-5968600-C-T c.24C>T p.T8= Synonymous 3/3 - 1
11-5968602-T-C c.26T>C p.L9P Missense 3/3 - 1
11-5968603-C-A c.27C>A p.L9= Synonymous 3/3 - 3
11-5968603-C-G c.27C>G p.L9= Synonymous 3/3 - 3
11-5968603-C-T c.27C>T p.L9= Synonymous 3/3 - 3
11-5968604-T-A c.28T>A p.S10T Missense 3/3 - 2
11-5968605-C-T c.29C>T p.S10F Missense 3/3 - 1
11-5968606-C-A c.30C>A p.S10= Synonymous 3/3 - 2
11-5968606-C-G c.30C>G p.S10= Synonymous 3/3 - 1
11-5968606-C-T c.30C>T p.S10= Synonymous 3/3 - 1
11-5968608-C-A c.32C>A p.T11N Missense 3/3 - 2
11-5968609-T-G c.33T>G p.T11= Synonymous 3/3 - 1
11-5968615-T-C c.39T>C p.A13= Synonymous 3/3 - 1
11-5968619-G-C c.43G>C p.D15H Missense 3/3 - 1
11-5968620-A-G c.44A>G p.D15G Missense 3/3 - 1
11-5968624-C-T c.48C>T p.F16= Synonymous 3/3 - 4
11-5968627-C-A c.51C>A p.L17= Synonymous 3/3 - 1
11-5968627-C-G c.51C>G p.L17= Synonymous 3/3 - 1
11-5968627-C-T c.51C>T p.L17= Synonymous 3/3 - 1
11-5968628-T-A c.52T>A p.L18M Missense 3/3 - 1
11-5968631-A-G c.55A>G p.N19D Missense 3/3 - 2
11-5968635-G-A c.59G>A p.C20Y Missense 3/3 - 2
11-5968636-T-C c.60T>C p.C20= Synonymous 3/3 - 1
11-5968641-T-C c.65T>C p.V22A Missense 3/3 - 1
11-5968643-AGA-TGT c.67_69delinsTGT p.R23C Missense 3/3 - 1
11-5968644-G-A c.68G>A p.R23K Missense 3/3 - 1
11-5968644-G-T c.68G>T p.R23I Missense 3/3 - 2
11-5968645-A-G c.69A>G p.R23= Synonymous 3/3 - 1
11-5968647-C-G c.71C>G p.S24C Missense 3/3 - 2
11-5968647-C-T c.71C>T p.S24F Missense 3/3 - 1
11-5968648-C-G c.72C>G p.S24= Synonymous 3/3 - 1
11-5968648-C-T c.72C>T p.S24= Synonymous 3/3 - 1
11-5968650-C-A c.74C>A p.P25H Missense 3/3 - 1
11-5968646-TC-T c.75del p.S26Afs*18 Frameshift 3/3 - 2
11-5968651-C-A c.75C>A p.P25= Synonymous 3/3 - 2
11-5968651-C-G c.75C>G p.P25= Synonymous 3/3 - 1
11-5968651-C-T c.75C>T p.P25= Synonymous 3/3 - 1
11-5968652-CA-C c.76del p.S26Afs*18 Frameshift 3/3 - 2
11-5968653-G-A c.77G>A p.S26N Missense 3/3 - 2
11-5968656-G-A c.80G>A p.W27* Nonsense 3/3 - 2
11-5968657-G-A c.81G>A p.W27* Nonsense 3/3 - 1
11-5968658-C-G c.82C>G p.Q28E Missense 3/3 - 1
11-5968659-A-C c.83A>C p.Q28P Missense 3/3 - 1
11-5968660-G-C c.84G>C p.Q28H Missense 3/3 - 3
11-5968660-G-T c.84G>T p.Q28H Missense 3/3 - 4
11-5968661-C-T c.85C>T p.H29Y Missense 3/3 - 1
11-5968663-C-A c.87C>A p.H29Q Missense 3/3 - 2
11-5968663-C-G c.87C>G p.H29Q Missense 3/3 - 1
11-5968665-G-A c.89G>A p.W30* Nonsense 3/3 - 4
11-5968666-G-A c.90G>A p.W30* Nonsense 3/3 - 1
11-5968669-G-A c.93G>A p.L31= Synonymous 3/3 - 2
11-5968672-C-A c.96C>A p.S32= Synonymous 3/3 - 1
11-5968672-C-G c.96C>G p.S32= Synonymous 3/3 - 1
11-5968672-C-T c.96C>T p.S32= Synonymous 3/3 - 2
11-5968675-G-A c.99G>A p.L33= Synonymous 3/3 - 2
11-5968676-C-T c.100C>T p.P34S Missense 3/3 - 3
11-5968677-C-A c.101C>A p.P34H Missense 3/3 - 2
11-5968677-C-T c.101C>T p.P34L Missense 3/3 - 3
11-5968680-T-C c.104T>C p.L35P Missense 3/3 - 1
11-5968681-C-A c.105C>A p.L35= Synonymous 3/3 - 1
11-5968681-C-G c.105C>G p.L35= Synonymous 3/3 - 1
11-5968681-C-T c.105C>T p.L35= Synonymous 3/3 - 2
11-5968682-A-G c.106A>G p.S36G Missense 3/3 - 2
11-5968684-C-T c.108C>T p.S36= Synonymous 3/3 - 1
11-5968685-C-A c.109C>A p.L37I Missense 3/3 - 2
11-5968685-C-T c.109C>T p.L37F Missense 3/3 - 1
11-5968686-T-C c.110T>C p.L37P Missense 3/3 - 1
11-5968687-C-T c.111C>T p.L37= Synonymous 3/3 - 1
11-5968688-C-A c.112C>A p.L38I Missense 3/3 - 1
11-5968688-C-T c.112C>T p.L38F Missense 3/3 - 1
11-5968689-T-C c.113T>C p.L38P Missense 3/3 - 1
11-5968693-C-T c.117C>T p.F39= Synonymous 3/3 - 6
11-5968694-C-A c.118C>A p.L40I Missense 3/3 - 2
11-5968696-C-A c.120C>A p.L40= Synonymous 3/3 - 1
11-5968696-C-T c.120C>T p.L40= Synonymous 3/3 - 4
11-5968699-G-T c.123G>T p.L41F Missense 3/3 - 1
11-5968700-G-T c.124G>T p.A42S Missense 3/3 - 1
11-5968702-C-A c.126C>A p.A42= Synonymous 3/3 - 2
11-5968702-C-CCCTACGGCCAAGAGGAAAAGGAGGCT c.126_127insCCTACGGCCAAGAGGAAAAGGAGGCT p.V43Pfs*10 Frameshift 3/3 - 1
11-5968702-C-T c.126C>T p.A42= Synonymous 3/3 - 1
11-5968703-G-A c.127G>A p.V43I Missense 3/3 - 1
11-5968703-G-T c.127G>T p.V43L Missense 3/3 - 1
11-5968705-A-T c.129A>T p.V43= Synonymous 3/3 - 1
11-5968706-G-A c.130G>A p.G44R Missense 3/3 - 2
11-5968706-G-C c.130G>C p.G44R Missense 3/3 - 1
11-5968710-C-A c.134C>A p.A45D Missense 3/3 - 1
11-5968711-C-A c.135C>A p.A45= Synonymous 3/3 - 1
11-5968711-C-G c.135C>G p.A45= Synonymous 3/3 - 3
11-5968711-C-T c.135C>T p.A45= Synonymous 3/3 - 1
11-5968713-A-G c.137A>G p.N46S Missense 3/3 - 1
11-5968714-C-A c.138C>A p.N46K Missense 3/3 - 1
11-5968714-C-T c.138C>T p.N46= Synonymous 3/3 - 1
11-5968716-C-T c.140C>T p.T47I Missense 3/3 - 2
11-5968717-C-A c.141C>A p.T47= Synonymous 3/3 - 4
11-5968717-C-G c.141C>G p.T47= Synonymous 3/3 - 3
11-5968717-C-T c.141C>T p.T47= Synonymous 3/3 - 4
11-5968719-C-T c.143C>T p.T48I Missense 3/3 - 1
11-5968720-C-A c.144C>A p.T48= Synonymous 3/3 - 1
11-5968720-C-T c.144C>T p.T48= Synonymous 3/3 - 1
11-5968721-C-T c.145C>T p.L49F Missense 3/3 - 2
11-5968722-T-C c.146T>C p.L49P Missense 3/3 - 1
11-5968723-C-T c.147C>T p.L49= Synonymous 3/3 - 1
11-5968724-CT-TA c.148_149delinsTA p.L50* Missense 3/3 - 3
11-5968725-T-A c.149T>A p.L50Q Missense 3/3 - 2
11-5968728-T-C c.152T>C p.M51T Missense 3/3 - 33
11-5968729-G-A c.153G>A p.M51I Missense 3/3 - 5
11-5968729-G-C c.153G>C p.M51I Missense 3/3 - 4
11-5968729-G-T c.153G>T p.M51I Missense 3/3 - 5
11-5968733-A-G c.157A>G p.I53V Missense 3/3 - 3
11-5968735-C-A c.159C>A p.I53= Synonymous 3/3 - 2
11-5968735-C-T c.159C>T p.I53= Synonymous 3/3 - 1
11-5968737-G-A c.161G>A p.W54* Nonsense 3/3 - 1
11-5968737-G-T c.161G>T p.W54L Missense 3/3 - 1
11-5968738-G-A c.162G>A p.W54* Nonsense 3/3 - 1
11-5968740-T-C c.164T>C p.L55P Missense 3/3 - 1
11-5968741-G-GGTGCAGA c.166_167insTGCAGAG p.E56Vfs*39 Frameshift 3/3 - 1
11-5968742-G-A c.166G>A p.E56K Missense 3/3 - 2
11-5968742-G-C c.166G>C p.E56Q Missense 3/3 - 1
11-5968744-G-A c.168G>A p.E56= Synonymous 3/3 - 1
11-5968745-G-A c.169G>A p.A57T Missense 3/3 - 1
11-5968746-C-T c.170C>T p.A57V Missense 3/3 - 1
11-5968747-C-A c.171C>A p.A57= Synonymous 3/3 - 1
11-5968747-C-G c.171C>G p.A57= Synonymous 3/3 - 2
11-5968747-C-T c.171C>T p.A57= Synonymous 3/3 - 1
11-5968748-TCTCTGCA-T c.174_180del p.L59Sfs*26 Frameshift 3/3 - 1
11-5968751-C-A c.175C>A p.L59M Missense 3/3 - 3
11-5968751-C-T c.175C>T p.L59= Synonymous 3/3 - 2
11-5968752-T-C c.176T>C p.L59P Missense 3/3 - 1
11-5968753-G-T c.177G>T p.L59= Synonymous 3/3 - 2
11-5968754-C-T c.178C>T p.H60Y Missense 3/3 - 3
11-5968755-A-C c.179A>C p.H60P Missense 3/3 - 1
11-5968755-A-G c.179A>G p.H60R Missense 3/3 - 1
11-5968756-C-T c.180C>T p.H60= Synonymous 3/3 - 4
11-5968758-A-T c.182A>T p.Q61L Missense 3/3 - 4
11-5968761-C-A c.185C>A p.P62H Missense 3/3 - 2
11-5968762-C-T c.186C>T p.P62= Synonymous 3/3 - 2
11-5968759-GC-G c.187del p.L63Cfs*24 Frameshift 3/3 - 1
11-5968763-C-A c.187C>A p.L63M Missense 3/3 - 3
11-5968763-C-T c.187C>T p.L63= Synonymous 3/3 - 1
11-5968766-T-A c.190T>A p.Y64N Missense 3/3 - 1
11-5968766-T-C c.190T>C p.Y64H Missense 3/3 - 2
11-5968768-C-A c.192C>A p.Y64* Nonsense 3/3 - 1
11-5968768-C-G c.192C>G p.Y64* Nonsense 3/3 - 2
11-5968769-T-G c.193T>G p.Y65D Missense 3/3 - 1
11-5968771-C-T c.195C>T p.Y65= Synonymous 3/3 - 1
11-5968772-C-A c.196C>A p.L66M Missense 3/3 - 1
11-5968772-C-T c.196C>T p.L66= Synonymous 3/3 - 4
11-5968774-G-A c.198G>A p.L66= Synonymous 3/3 - 2
11-5968779-G-A c.203G>A p.S68N Missense 3/3 - 1
11-5968780-C-A c.204C>A p.S68R Missense 3/3 - 1
11-5968783-C-T c.207C>T p.L69= Synonymous 3/3 - 1
11-5968784-C-A c.208C>A p.L70I Missense 3/3 - 1
11-5968785-T-C c.209T>C p.L70P Missense 3/3 - 4
11-5968786-C-T c.210C>T p.L70= Synonymous 3/3 - 1
11-5968787-T-C c.211T>C p.S71P Missense 3/3 - 1
11-5968787-TC-AA c.211_212delinsAA p.S71N Missense 3/3 - 1
11-5968788-C-T c.212C>T p.S71F Missense 3/3 - 4
11-5968789-C-T c.213C>T p.S71= Synonymous 3/3 - 1
11-5968790-C-T c.214C>T p.L72= Synonymous 3/3 - 1
11-5968791-T-G c.215T>G p.L72R Missense 3/3 - 1
11-5968793-C-A c.217C>A p.L73M Missense 3/3 - 1
11-5968793-C-T c.217C>T p.L73= Synonymous 3/3 - 1
11-5968794-T-C c.218T>C p.L73P Missense 3/3 - 1
11-5968796-G-C c.220G>C p.D74H Missense 3/3 - 1
11-5968797-A-G c.221A>G p.D74G Missense 3/3 - 1
11-5968798-C-A c.222C>A p.D74E Missense 3/3 - 1
11-5968798-C-G c.222C>G p.D74E Missense 3/3 - 1
11-5968799-A-G c.223A>G p.I75V Missense 3/3 - 1
11-5968801-C-A c.225C>A p.I75= Synonymous 3/3 - 1
11-5968801-C-G c.225C>G p.I75M Missense 3/3 - 1
11-5968801-C-T c.225C>T p.I75= Synonymous 3/3 - 5
11-5968802-G-A c.226G>A p.V76M Missense 3/3 - 11
11-5968803-T-C c.227T>C p.V76A Missense 3/3 - 1
11-5968804-G-A c.228G>A p.V76= Synonymous 3/3 - 1
11-5968805-C-T c.229C>T p.L77F Missense 3/3 - 1
11-5968806-T-G c.230T>G p.L77R Missense 3/3 - 1
11-5968809-G-A c.233G>A p.C78Y Missense 3/3 - 1
11-5968810-C-A c.234C>A p.C78* Nonsense 3/3 - 6
11-5968812-T-G c.236T>G p.L79R Missense 3/3 - 1
11-5968813-C-T c.237C>T p.L79= Synonymous 3/3 - 1
11-5968815-C-T c.239C>T p.T80I Missense 3/3 - 1
11-5968816-T-C c.240T>C p.T80= Synonymous 3/3 - 1
11-5968817-G-T c.241G>T p.V81F Missense 3/3 - 3
11-5968819-C-A c.243C>A p.V81= Synonymous 3/3 - 1
11-5968821-T-C c.245T>C p.I82T Missense 3/3 - 1
11-5968822-C-T c.246C>T p.I82= Synonymous 3/3 - 4
11-5968823-C-T c.247C>T p.P83S Missense 3/3 - 1
11-5968824-C-T c.248C>T p.P83L Missense 3/3 - 1
11-5968827-A-G c.251A>G p.K84R Missense 3/3 - 1
11-5968829-G-A c.253G>A p.V85I Missense 3/3 - 2
11-5968830-T-G c.254T>G p.V85G Missense 3/3 - 1
11-5968831-C-G c.255C>G p.V85= Synonymous 3/3 - 1
11-5968833-T-C c.257T>C p.L86P Missense 3/3 - 1
11-5968834-G-A c.258G>A p.L86= Synonymous 3/3 - 1
11-5968836-C-A c.260C>A p.T87N Missense 3/3 - 1
11-5968836-C-T c.260C>T p.T87I Missense 3/3 - 2
11-5968840-C-G c.264C>G p.I88M Missense 3/3 - 2
11-5968843-C-T c.267C>T p.F89= Synonymous 3/3 - 1
11-5968845-G-T c.269G>T p.W90L Missense 3/3 - 3
11-5968849-T-C c.273T>C p.F91= Synonymous 3/3 - 1
11-5968850-G-A c.274G>A p.D92N Missense 3/3 - 2
11-5968852-C-A c.276C>A p.D92E Missense 3/3 - 1
11-5968852-C-G c.276C>G p.D92E Missense 3/3 - 1
11-5968852-C-T c.276C>T p.D92= Synonymous 3/3 - 1
11-5968853-C-T c.277C>T p.L93F Missense 3/3 - 1
11-5968854-T-C c.278T>C p.L93P Missense 3/3 - 1
11-5968855-C-A c.279C>A p.L93= Synonymous 3/3 - 2
11-5968855-C-G c.279C>G p.L93= Synonymous 3/3 - 3
11-5968855-C-T c.279C>T p.L93= Synonymous 3/3 - 2
11-5968861-C-A c.285C>A p.P95= Synonymous 3/3 - 1
11-5968861-C-G c.285C>G p.P95= Synonymous 3/3 - 1
11-5968861-C-T c.285C>T p.P95= Synonymous 3/3 - 2
11-5968864-C-T c.288C>T p.I96= Synonymous 3/3 - 1
11-5968865-A-T c.289A>T p.S97C Missense 3/3 - 1
11-5968866-G-C c.290G>C p.S97T Missense 3/3 - 1
11-5968867-C-T c.291C>T p.S97= Synonymous 3/3 - 4
11-5968870-C-T c.294C>T p.F98= Synonymous 3/3 - 6
11-5968871-C-T c.295C>T p.P99S Missense 3/3 - 6
11-5968872-C-A c.296C>A p.P99H Missense 3/3 - 2
11-5968872-C-T c.296C>T p.P99L Missense 3/3 - 3
11-5968873-T-A c.297T>A p.P99= Synonymous 3/3 - 1
11-5968874-G-T c.298G>T p.A100S Missense 3/3 - 2
11-5968875-C-G c.299C>G p.A100G Missense 3/3 - 1
11-5968874-GC-G c.300del p.C101Afs*8 Frameshift 3/3 - 1
11-5968876-C-T c.300C>T p.A100= Synonymous 3/3 - 2
11-5968877-T-A c.301T>A p.C101S Missense 3/3 - 1
11-5968877-T-C c.301T>C p.C101R Missense 3/3 - 1
11-5968878-G-C c.302G>C p.C101S Missense 3/3 - 1
11-5968879-C-T c.303C>T p.C101= Synonymous 3/3 - 1
11-5968880-T-C c.304T>C p.F102L Missense 3/3 - 1
11-5968882-C-T c.306C>T p.F102= Synonymous 3/3 - 1
11-5968883-C-T c.307C>T p.L103F Missense 3/3 - 1
11-5968885-C-T c.309C>T p.L103= Synonymous 3/3 - 2
11-5968886-C-T c.310C>T p.Q104* Nonsense 3/3 - 1
11-5968888-G-C c.312G>C p.Q104H Missense 3/3 - 3
11-5968888-G-T c.312G>T p.Q104H Missense 3/3 - 2
11-5968889-A-G c.313A>G p.M105V Missense 3/3 - 1
11-5968891-G-A c.315G>A p.M105I Missense 3/3 - 1
11-5968891-G-C c.315G>C p.M105I Missense 3/3 - 1
11-5968891-G-T c.315G>T p.M105I Missense 3/3 - 1
11-5968892-5968893---ACATCATGAATTGTTTC c.317_333dup p.L112Tfs*3 frameshift_variant 3/3 - 1
11-5968892-T-A c.316T>A p.Y106N Missense 3/3 - 1
11-5968893-A-G c.317A>G p.Y106C Missense 3/3 - 1
11-5968898-A-G c.322A>G p.M108V Missense 3/3 - 1
11-5968899-T-A c.323T>A p.M108K Missense 3/3 - 1
11-5968902-A-C c.326A>C p.N109T Missense 3/3 - 3
11-5968905-G-T c.329G>T p.C110F Missense 3/3 - 1
11-5968907-T-G c.331T>G p.F111V Missense 3/3 - 1
11-5968909-C-T c.333C>T p.F111= Synonymous 3/3 - 4
11-5968910-C-T c.334C>T p.L112= Synonymous 3/3 - 2
11-5968912-A-G c.336A>G p.L112= Synonymous 3/3 - 1
11-5968915-C-T c.339C>T p.A113= Synonymous 3/3 - 2
11-5968916-A-G c.340A>G p.M114V Missense 3/3 - 1
11-5968919-G-A c.343G>A p.E115K Missense 3/3 - 1
11-5968921-G-A c.345G>A p.E115= Synonymous 3/3 - 1
11-5968922-T-C c.346T>C p.S116P Missense 3/3 - 1
11-5968927-C-T c.351C>T p.C117= Synonymous 3/3 - 1
11-5968928-A-C c.352A>C p.T118P Missense 3/3 - 1
11-5968929-C-T c.353C>T p.T118I Missense 3/3 - 4
11-5968933-C-T c.357C>T p.F119= Synonymous 3/3 - 1
11-5968936-G-A c.360G>A p.M120I Missense 3/3 - 3
11-5968936-G-C c.360G>C p.M120I Missense 3/3 - 1
11-5968936-G-T c.360G>T p.M120I Missense 3/3 - 2
11-5968937-G-A c.361G>A p.V121I Missense 3/3 - 2
11-5968939-C-T c.363C>T p.V121= Synonymous 3/3 - 2
11-5968942-G-A c.366G>A p.M122I Missense 3/3 - 4
11-5968943-G-A c.367G>A p.A123T Missense 3/3 - 1
11-5968944-C-T c.368C>T p.A123V Missense 3/3 - 1
11-5968947-A-T c.371A>T p.Y124F Missense 3/3 - 1
11-5968949-G-A c.373G>A p.D125N Missense 3/3 - 6
11-5968949-G-T c.373G>T p.D125Y Missense 3/3 - 1
11-5968952-C-A c.376C>A p.R126S Missense 3/3 - 5
11-5968952-CGT-TGG c.376_378delinsTGG p.R126W Missense 3/3 - 1
11-5968952-C-T c.376C>T p.R126C Missense 3/3 - 7
11-5968953-G-A c.377G>A p.R126H Missense 3/3 - 1
11-5968956-A-G c.380A>G p.Y127C Missense 3/3 - 1
11-5968957-T-C c.381T>C p.Y127= Synonymous 3/3 - 2
11-5968957-T-G c.381T>G p.Y127* Nonsense 3/3 - 1
11-5968958-G-A c.382G>A p.V128I Missense 3/3 - 1
11-5968959-T-C c.383T>C p.V128A Missense 3/3 - 1
11-5968961-G-C c.385G>C p.A129P Missense 3/3 - 1
11-5968963-C-T c.387C>T p.A129= Synonymous 3/3 - 1
11-5968967-T-C c.391T>C p.C131R Missense 3/3 - 1
11-5968969-C-T c.393C>T p.C131= Synonymous 3/3 - 2
11-5968971-A-G c.395A>G p.H132R Missense 3/3 - 1
11-5968972-C-A c.396C>A p.H132Q Missense 3/3 - 1
11-5968972-C-T c.396C>T p.H132= Synonymous 3/3 - 1
11-5968973-C-A c.397C>A p.P133T Missense 3/3 - 1
11-5968974-C-A c.398C>A p.P133Q Missense 3/3 - 1
11-5968975-A-G c.399A>G p.P133= Synonymous 3/3 - 1
11-5968976-C-T c.400C>T p.L134= Synonymous 3/3 - 1
11-5968978-G-A c.402G>A p.L134= Synonymous 3/3 - 2
11-5968985-C-A c.409C>A p.P137T Missense 3/3 - 1
11-5968985-C-T c.409C>T p.P137S Missense 3/3 - 1
11-5968986-C-A c.410C>A p.P137Q Missense 3/3 - 1
11-5968986-C-G c.410C>G p.P137R Missense 3/3 - 1
11-5968986-C-T c.410C>T p.P137L Missense 3/3 - 1
11-5968989-C-T c.413C>T p.S138L Missense 3/3 - 1
11-5968994-A-G c.418A>G p.I140V Missense 3/3 - 1
11-5968995-T-A c.419T>A p.I140N Missense 3/3 - 1
11-5968996-C-G c.420C>G p.I140M Missense 3/3 - 1
11-5969000-G-A c.424G>A p.D142N Missense 3/3 - 3
11-5969003-C-T c.427C>T p.H143Y Missense 3/3 - 2
11-5969005-C-A c.429C>A p.H143Q Missense 3/3 - 3
11-5969007-T-A c.431T>A p.F144Y Missense 3/3 - 1
11-5969009-G-A c.433G>A p.V145I Missense 3/3 - 1
11-5969009-G-T c.433G>T p.V145L Missense 3/3 - 1
11-5969013-T-A c.437T>A p.V146D Missense 3/3 - 1
11-5969015-A-G c.439A>G p.K147E Missense 3/3 - 1
11-5969017-G-A c.441G>A p.K147= Synonymous 3/3 - 3
11-5969017-G-C c.441G>C p.K147N Missense 3/3 - 2
11-5969017-G-T c.441G>T p.K147N Missense 3/3 - 5
11-5969018-G-A c.442G>A p.A148T Missense 3/3 - 1
11-5969019-C-A c.443C>A p.A148D Missense 3/3 - 1
11-5969019-C-T c.443C>T p.A148V Missense 3/3 - 1
11-5969021-G-A c.445G>A p.A149T Missense 3/3 - 1
11-5969021-G-C c.445G>C p.A149P Missense 3/3 - 1
11-5969021-G-T c.445G>T p.A149S Missense 3/3 - 1
11-5969022-C-A c.446C>A p.A149D Missense 3/3 - 1
11-5969022-C-T c.446C>T p.A149V Missense 3/3 - 1
11-5969023-C-T c.447C>T p.A149= Synonymous 3/3 - 1
11-5969025-TG-CA c.449_450inv p.M150T Missense 3/3 - 1
11-5969026-G-A c.450G>A p.M150I Missense 3/3 - 3
11-5969026-G-C c.450G>C p.M150I Missense 3/3 - 2
11-5969026-G-T c.450G>T p.M150I Missense 3/3 - 2
11-5969032-T-A c.456T>A p.I152= Synonymous 3/3 - 1
11-5969036-AC-GT c.460_461inv p.T154V Missense 3/3 - 1
11-5969036-A-G c.460A>G p.T154A Missense 3/3 - 4
11-5969038-C-G c.462C>G p.T154= Synonymous 3/3 - 1
11-5969039-AG-CA c.463_464delinsCA p.R155Q Missense 3/3 - 1
11-5969040-G-A c.464G>A p.R155K Missense 3/3 - 1
11-5969047-G-A c.471G>A p.V157= Synonymous 3/3 - 1
11-5969047-G-T c.471G>T p.V157= Synonymous 3/3 - 1
11-5969048-C-T c.472C>T p.L158F Missense 3/3 - 1
11-5969049-T-A c.473T>A p.L158H Missense 3/3 - 1
11-5969051-A-G c.475A>G p.M159V Missense 3/3 - 1
11-5969051-A-T c.475A>T p.M159L Missense 3/3 - 1
11-5969052-T-C c.476T>C p.M159T Missense 3/3 - 1
11-5969053-G-A c.477G>A p.M159I Missense 3/3 - 3
11-5969053-G-C c.477G>C p.M159I Missense 3/3 - 2
11-5969053-G-T c.477G>T p.M159I Missense 3/3 - 2
11-5969056-T-A c.480T>A p.T160= Synonymous 3/3 - 3
11-5969056-T-C c.480T>C p.T160= Synonymous 3/3 - 1
11-5969056-T-G c.480T>G p.T160= Synonymous 3/3 - 1
11-5969057-CTG-TTT c.481_483delinsTTT p.L161F Missense 3/3 - 1
11-5969059-G-T c.483G>T p.L161= Synonymous 3/3 - 1
11-5969060-C-T c.484C>T p.P162S Missense 3/3 - 1
11-5969062-C-T c.486C>T p.P162= Synonymous 3/3 - 1
11-5969065-C-T c.489C>T p.I163= Synonymous 3/3 - 4
11-5969068-C-T c.492C>T p.P164= Synonymous 3/3 - 1
11-5969071-C-G c.495C>G p.I165M Missense 3/3 - 3
11-5969071-C-T c.495C>T p.I165= Synonymous 3/3 - 1
11-5969072-C-A c.496C>A p.L166I Missense 3/3 - 1
11-5969072-C-G c.496C>G p.L166V Missense 3/3 - 2
11-5969072-C-T c.496C>T p.L166F Missense 3/3 - 1
11-5969073-T-C c.497T>C p.L166P Missense 3/3 - 1
11-5969076-C-G c.500C>G p.S167* Nonsense 3/3 - 2
11-5969076-C-T c.500C>T p.S167L Missense 3/3 - 1
11-5969078-G-A c.502G>A p.A168T Missense 3/3 - 3
11-5969078-G-T c.502G>T p.A168S Missense 3/3 - 1
11-5969079-C-T c.503C>T p.A168V Missense 3/3 - 2
11-5969080-A-G c.504A>G p.A168= Synonymous 3/3 - 1
11-5969082-A-G c.506A>G p.Q169R Missense 3/3 - 1
11-5969082-A-T c.506A>T p.Q169L Missense 3/3 - 1
11-5969083-A-G c.507A>G p.Q169= Synonymous 3/3 - 1
11-5969086-C-T c.510C>T p.L170= Synonymous 3/3 - 1
11-5969087-C-A c.511C>A p.R171S Missense 3/3 - 1
11-5969087-C-T c.511C>T p.R171C Missense 3/3 - 1
11-5969088-G-A c.512G>A p.R171H Missense 3/3 - 2
11-5969090-T-C c.514T>C p.Y172H Missense 3/3 - 1
11-5969091-A-ATT c.516_517dup p.C173Ffs*40 Frameshift 3/3 - 1
11-5969094-G-A c.518G>A p.C173Y Missense 3/3 - 1
11-5969097-G-A c.521G>A p.G174E Missense 3/3 - 1
11-5969097-G-T c.521G>T p.G174V Missense 3/3 - 1
11-5969099-A-C c.523A>C p.R175= Synonymous 3/3 - 1
11-5969099-A-G c.523A>G p.R175G Missense 3/3 - 1
11-5969100-G-T c.524G>T p.R175I Missense 3/3 - 3
11-5969102-A-C c.526A>C p.N176H Missense 3/3 - 1
11-5969102-A-G c.526A>G p.N176D Missense 3/3 - 1
11-5969107-C-T c.531C>T p.V177= Synonymous 3/3 - 1
11-5969109-T-C c.533T>C p.I178T Missense 3/3 - 1
11-5969111-G-A c.535G>A p.E179K Missense 3/3 - 1
11-5969111-G-T c.535G>T p.E179* Nonsense 3/3 - 1
11-5969115-A-G c.539A>G p.N180S Missense 3/3 - 4
11-5969116-C-A c.540C>A p.N180K Missense 3/3 - 1
11-5969116-C-T c.540C>T p.N180= Synonymous 3/3 - 1
11-5969117-T-A c.541T>A p.C181S Missense 3/3 - 1
11-5969118-G-C c.542G>C p.C181S Missense 3/3 - 1
11-5969119-C-A c.543C>A p.C181* Nonsense 3/3 - 1
11-5969121-T-C c.545T>C p.I182T Missense 3/3 - 1
11-5969123-T-G c.547T>G p.C183G Missense 3/3 - 1
11-5969127-C-T c.551C>T p.A184V Missense 3/3 - 5
11-5969128-C-A c.552C>A p.A184= Synonymous 3/3 - 1
11-5969128-C-G c.552C>G p.A184= Synonymous 3/3 - 1
11-5969128-C-T c.552C>T p.A184= Synonymous 3/3 - 1
11-5969129-A-C c.553A>C p.N185H Missense 3/3 - 1
11-5969130-A-G c.554A>G p.N185S Missense 3/3 - 1
11-5969130-A-T c.554A>T p.N185I Missense 3/3 - 1
11-5969135-T-G c.559T>G p.S187A Missense 3/3 - 1
11-5969136-C-T c.560C>T p.S187F Missense 3/3 - 1
11-5969142-C-G c.566C>G p.S189C Missense 3/3 - 1
11-5969142-C-T c.566C>T p.S189F Missense 3/3 - 6
11-5969145-G-C c.569G>C p.R190T Missense 3/3 - 1
11-5969145-G-T c.569G>T p.R190I Missense 3/3 - 4
11-5969148-T-A c.572T>A p.L191H Missense 3/3 - 1
11-5969149-C-T c.573C>T p.L191= Synonymous 3/3 - 1
11-5969150-T-C c.574T>C p.S192P Missense 3/3 - 1
11-5969151-C-T c.575C>T p.S192F Missense 3/3 - 1
11-5969152-C-A c.576C>A p.S192= Synonymous 3/3 - 3
11-5969152-C-G c.576C>G p.S192= Synonymous 3/3 - 2
11-5969152-C-T c.576C>T p.S192= Synonymous 3/3 - 2
11-5969155-C-T c.579C>T p.C193= Synonymous 3/3 - 3
11-5969156-G-A c.580G>A p.D194N Missense 3/3 - 6
11-5969157-A-G c.581A>G p.D194G Missense 3/3 - 1
11-5969164-C-T c.588C>T p.V196= Synonymous 3/3 - 1
11-5969167-C-A c.591C>A p.T197= Synonymous 3/3 - 1
11-5969167-C-G c.591C>G p.T197= Synonymous 3/3 - 2
11-5969167-C-T c.591C>T p.T197= Synonymous 3/3 - 4
11-5969172-A-G c.596A>G p.N199S Missense 3/3 - 1
11-5969173-T-A c.597T>A p.N199K Missense 3/3 - 1
11-5969174-C-T c.598C>T p.H200Y Missense 3/3 - 1
11-5969176-C-A c.600C>A p.H200Q Missense 3/3 - 4
11-5969176-C-G c.600C>G p.H200Q Missense 3/3 - 3
11-5969179-T-G c.603T>G p.L201= Synonymous 3/3 - 3
11-5969183-C-A c.607C>A p.Q203K Missense 3/3 - 4
11-5969183-C-G c.607C>G p.Q203E Missense 3/3 - 1
11-5969185-A-G c.609A>G p.Q203= Synonymous 3/3 - 18
11-5969186-T-C c.610T>C p.F204L Missense 3/3 - 1
11-5969189-G-T c.613G>T p.A205S Missense 3/3 - 1
11-5969192-G-A c.616G>A p.G206R Missense 3/3 - 1
11-5969193-G-C c.617G>C p.G206A Missense 3/3 - 1
11-5969195-G-A c.619G>A p.G207S Missense 3/3 - 1
11-5969196-G-A c.620G>A p.G207D Missense 3/3 - 1
11-5969197-C-A c.621C>A p.G207= Synonymous 3/3 - 2
11-5969197-C-G c.621C>G p.G207= Synonymous 3/3 - 2
11-5969197-C-T c.621C>T p.G207= Synonymous 3/3 - 3
11-5969199-G-A c.623G>A p.W208* Nonsense 3/3 - 1
11-5969200-G-A c.624G>A p.W208* Nonsense 3/3 - 4
11-5969200-G-T c.624G>T p.W208C Missense 3/3 - 1
11-5969202-C-A c.626C>A p.T209N Missense 3/3 - 1
11-5969205-T-A c.629T>A p.L210Q Missense 3/3 - 1
11-5969207-C-T c.631C>T p.L211= Synonymous 3/3 - 1
11-5969209-A-G c.633A>G p.L211= Synonymous 3/3 - 1
11-5969210-G-T c.634G>T p.G212* Nonsense 3/3 - 1
11-5969211-G-A c.635G>A p.G212E Missense 3/3 - 8
11-5969211-G-T c.635G>T p.G212V Missense 3/3 - 1
11-5969214-C-A c.638C>A p.S213Y Missense 3/3 - 2
11-5969216-G-A c.640G>A p.D214N Missense 3/3 - 2
11-5969218-C-T c.642C>T p.D214= Synonymous 3/3 - 1
11-5969219-C-T c.643C>T p.L215F Missense 3/3 - 4
11-5969220-T-C c.644T>C p.L215P Missense 3/3 - 1
11-5969224-C-T c.648C>T p.I216= Synonymous 3/3 - 1
11-5969226-T-C c.650T>C p.L217P Missense 3/3 - 1
11-5969228-A-C c.652A>C p.I218L Missense 3/3 - 1
11-5969228-A-G c.652A>G p.I218V Missense 3/3 - 1
11-5969229-T-C c.653T>C p.I218T Missense 3/3 - 1
11-5969230-C-T c.654C>T p.I218= Synonymous 3/3 - 3
11-5969233-C-T c.657C>T p.F219= Synonymous 3/3 - 1
11-5969234-C-T c.658C>T p.L220F Missense 3/3 - 3
11-5969236-C-G c.660C>G p.L220= Synonymous 3/3 - 1
11-5969236-C-T c.660C>T p.L220= Synonymous 3/3 - 1
11-5969238-C-A c.662C>A p.S221Y Missense 3/3 - 1
11-5969238-C-T c.662C>T p.S221F Missense 3/3 - 2
11-5969240-T-C c.664T>C p.Y222H Missense 3/3 - 4
11-5969241-A-G c.665A>G p.Y222C Missense 3/3 - 2
11-5969242-C-T c.666C>T p.Y222= Synonymous 3/3 - 1
11-5969243-A-C c.667A>C p.T223P Missense 3/3 - 1
11-5969243-A-G c.667A>G p.T223A Missense 3/3 - 1
11-5969244-C-A c.668C>A p.T223N Missense 3/3 - 1
11-5969245-C-T c.669C>T p.T223= Synonymous 3/3 - 1
11-5969248-C-A c.672C>A p.F224L Missense 3/3 - 1
11-5969248-C-T c.672C>T p.F224= Synonymous 3/3 - 1
11-5969249-A-C c.673A>C p.I225L Missense 3/3 - 1
11-5969252-C-T c.676C>T p.L226= Synonymous 3/3 - 3
11-5969254-G-T c.678G>T p.L226= Synonymous 3/3 - 2
11-5969255-C-A c.679C>A p.R227= Synonymous 3/3 - 2
11-5969255-C-T c.679C>T p.R227* Nonsense 3/3 - 5
11-5969256-G-A c.680G>A p.R227Q Missense 3/3 - 8
11-5969258-G-T c.682G>T p.A228S Missense 3/3 - 1
11-5969259-C-T c.683C>T p.A228V Missense 3/3 - 3
11-5969260-T-C c.684T>C p.A228= Synonymous 3/3 - 1
11-5969261-G-A c.685G>A p.V229M Missense 3/3 - 2
11-5969261-G-C c.685G>C p.V229L Missense 3/3 - 1
11-5969261-G-T c.685G>T p.V229L Missense 3/3 - 1
11-5969263-G-A c.687G>A p.V229= Synonymous 3/3 - 2
11-5969263-G-C c.687G>C p.V229= Synonymous 3/3 - 2
11-5969263-G-T c.687G>T p.V229= Synonymous 3/3 - 1
11-5969267-A-C c.691A>C p.R231= Synonymous 3/3 - 2
11-5969268-G-A c.692G>A p.R231K Missense 3/3 - 4
11-5969269-A-T c.693A>T p.R231S Missense 3/3 - 1
11-5969270-C-T c.694C>T p.L232F Missense 3/3 - 1
11-5969271-T-G c.695T>G p.L232R Missense 3/3 - 1
11-5969272-C-A c.696C>A p.L232= Synonymous 3/3 - 1
11-5969272-C-T c.696C>T p.L232= Synonymous 3/3 - 1
11-5969273-A-C c.697A>C p.K233Q Missense 3/3 - 2
11-5969275-G-A c.699G>A p.K233= Synonymous 3/3 - 3
11-5969276-G-A c.700G>A p.A234T Missense 3/3 - 1
11-5969276-G-C c.700G>C p.A234P Missense 3/3 - 1
11-5969278-A-C c.702A>C p.A234= Synonymous 3/3 - 1
11-5969282-G-A c.706G>A p.G236S Missense 3/3 - 5
11-5969282-G-C c.706G>C p.G236R Missense 3/3 - 1
11-5969284-T-A c.708T>A p.G236= Synonymous 3/3 - 2
11-5969284-T-C c.708T>C p.G236= Synonymous 3/3 - 3
11-5969284-T-G c.708T>G p.G236= Synonymous 3/3 - 2
11-5969286-C-A c.710C>A p.A237D Missense 3/3 - 4
11-5969286-C-T c.710C>T p.A237V Missense 3/3 - 5
11-5969287-C-T c.711C>T p.A237= Synonymous 3/3 - 1
11-5969288-G-A c.712G>A p.V238M Missense 3/3 - 1
11-5969290-G-T c.714G>T p.V238= Synonymous 3/3 - 2
11-5969291-G-A c.715G>A p.A239T Missense 3/3 - 1
11-5969296-G-A c.720G>A p.K240= Synonymous 3/3 - 1
11-5969298-C-T c.722C>T p.A241V Missense 3/3 - 2
11-5969299-C-T c.723C>T p.A241= Synonymous 3/3 - 2
11-5969300-C-A c.724C>A p.L242I Missense 3/3 - 1
11-5969300-C-T c.724C>T p.L242= Synonymous 3/3 - 1
11-5969301-T-TA c.727dup p.S243Kfs*27 Frameshift 3/3 - 1
11-5969303-A-C c.727A>C p.S243R Missense 3/3 - 1
11-5969303-A-G c.727A>G p.S243G Missense 3/3 - 1
11-5969304-G-T c.728G>T p.S243I Missense 3/3 - 3
11-5969305-C-T c.729C>T p.S243= Synonymous 3/3 - 1
11-5969306-A-C c.730A>C p.T244P Missense 3/3 - 1
11-5969306-A-G c.730A>G p.T244A Missense 3/3 - 1
11-5969306-A-T c.730A>T p.T244S Missense 3/3 - 2
11-5969309-T-C c.733T>C p.C245R Missense 3/3 - 4
11-5969311-T-A c.735T>A p.C245* Nonsense 3/3 - 3
11-5969312-G-T c.736G>T p.G246C Missense 3/3 - 4
11-5969313-G-A c.737G>A p.G246D Missense 3/3 - 2
11-5969313-G-T c.737G>T p.G246V Missense 3/3 - 3
11-5969314-C-G c.738C>G p.G246= Synonymous 3/3 - 1
11-5969316-C-T c.740C>T p.S247F Missense 3/3 - 4
11-5969318-C-G c.742C>G p.H248D Missense 3/3 - 1
11-5969318-C-T c.742C>T p.H248Y Missense 3/3 - 1
11-5969319-A-G c.743A>G p.H248R Missense 3/3 - 1
11-5969319-A-T c.743A>T p.H248L Missense 3/3 - 1
11-5969325-T-A c.749T>A p.M250K Missense 3/3 - 1
11-5969325-T-G c.749T>G p.M250R Missense 3/3 - 1
11-5969326-G-A c.750G>A p.M250I Missense 3/3 - 2
11-5969327-C-A c.751C>A p.L251I Missense 3/3 - 1
11-5969332-C-T c.756C>T p.I252= Synonymous 3/3 - 3
11-5969335-C-A c.759C>A p.L253= Synonymous 3/3 - 1
11-5969335-C-T c.759C>T p.L253= Synonymous 3/3 - 2
11-5969336-T-C c.760T>C p.F254L Missense 3/3 - 2
11-5969338-C-A c.762C>A p.F254L Missense 3/3 - 1
11-5969338-C-G c.762C>G p.F254L Missense 3/3 - 2
11-5969341-C-T c.765C>T p.F255= Synonymous 3/3 - 2
11-5969341-TC-T c.765del p.F255Lfs*44 Frameshift 3/3 - 1
11-5969342-A-G c.766A>G p.S256G Missense 3/3 - 2
11-5969345-A-G c.769A>G p.T257A Missense 3/3 - 2
11-5969347-C-A c.771C>A p.T257= Synonymous 3/3 - 3
11-5969347-C-G c.771C>G p.T257= Synonymous 3/3 - 1
11-5969347-C-T c.771C>T p.T257= Synonymous 3/3 - 2
11-5969350-C-A c.774C>A p.I258= Synonymous 3/3 - 1
11-5969350-C-G c.774C>G p.I258M Missense 3/3 - 2
11-5969350-C-T c.774C>T p.I258= Synonymous 3/3 - 1
11-5969351-C-T c.775C>T p.L259F Missense 3/3 - 6
11-5969356-G-A c.780G>A p.L260= Synonymous 3/3 - 4
11-5969356-G-T c.780G>T p.L260= Synonymous 3/3 - 2
11-5969357-G-A c.781G>A p.V261I Missense 3/3 - 1
11-5969362-T-C c.786T>C p.F262= Synonymous 3/3 - 1
11-5969363-G-C c.787G>C p.V263L Missense 3/3 - 1
11-5969365-C-A c.789C>A p.V263= Synonymous 3/3 - 1
11-5969365-C-T c.789C>T p.V263= Synonymous 3/3 - 1
11-5969366-C-A c.790C>A p.L264I Missense 3/3 - 1
11-5969374-T-C c.798T>C p.H266= Synonymous 3/3 - 1
11-5969376-T-A c.800T>A p.V267E Missense 3/3 - 1
11-5969377-G-C c.801G>C p.V267= Synonymous 3/3 - 1
11-5969377-G-T c.801G>T p.V267= Synonymous 3/3 - 2
11-5969381-A-G c.805A>G p.K269E Missense 3/3 - 4
11-5969383-G-A c.807G>A p.K269= Synonymous 3/3 - 1
11-5969383-G-C c.807G>C p.K269N Missense 3/3 - 1
11-5969383-G-T c.807G>T p.K269N Missense 3/3 - 1
11-5969384-A-G c.808A>G p.K270E Missense 3/3 - 1
11-5969386-G-C c.810G>C p.K270N Missense 3/3 - 1
11-5969386-G-T c.810G>T p.K270N Missense 3/3 - 1
11-5969387-A-G c.811A>G p.K271E Missense 3/3 - 1
11-5969389-A-C c.813A>C p.K271N Missense 3/3 - 3
11-5969389-A-T c.813A>T p.K271N Missense 3/3 - 3
11-5969390-G-C c.814G>C p.V272L Missense 3/3 - 1
11-5969394-C-T c.818C>T p.S273F Missense 3/3 - 1
11-5969395-C-A c.819C>A p.S273= Synonymous 3/3 - 1
11-5969395-C-G c.819C>G p.S273= Synonymous 3/3 - 1
11-5969395-C-T c.819C>T p.S273= Synonymous 3/3 - 1
11-5969397-C-T c.821C>T p.P274L Missense 3/3 - 1
11-5969402-G-C c.826G>C p.V276L Missense 3/3 - 2
11-5969402-G-T c.826G>T p.V276L Missense 3/3 - 4
11-5969405-C-A c.829C>A p.P277T Missense 3/3 - 1
11-5969405-C-T c.829C>T p.P277S Missense 3/3 - 2
11-5969408-G-A c.832G>A p.V278I Missense 3/3 - 2
11-5969408-G-T c.832G>T p.V278F Missense 3/3 - 1
11-5969409-T-A c.833T>A p.V278D Missense 3/3 - 1
11-5969413-G-A c.837G>A p.L279= Synonymous 3/3 - 1
11-5969418-A-G c.842A>G p.N281S Missense 3/3 - 2
11-5969421-T-G c.845T>G p.V282G Missense 3/3 - 1
11-5969425-C-T c.849C>T p.L283= Synonymous 3/3 - 1
11-5969427-A-G c.851A>G p.H284R Missense 3/3 - 1
11-5969428-C-G c.852C>G p.H284Q Missense 3/3 - 1
11-5969428-C-T c.852C>T p.H284= Synonymous 3/3 - 2
11-5969429-C-T c.853C>T p.H285Y Missense 3/3 - 1
11-5969430-A-G c.854A>G p.H285R Missense 3/3 - 1
11-5969437-T-C c.861T>C p.I287= Synonymous 3/3 - 1
11-5969438-C-T c.862C>T p.P288S Missense 3/3 - 6
11-5969440-T-C c.864T>C p.P288= Synonymous 3/3 - 1
11-5969442-C-G c.866C>G p.A289G Missense 3/3 - 1
11-5969442-C-T c.866C>T p.A289V Missense 3/3 - 1
11-5969443-A-G c.867A>G p.A289= Synonymous 3/3 - 1
11-5969444-G-T c.868G>T p.A290S Missense 3/3 - 1
11-5969445-C-T c.869C>T p.A290V Missense 3/3 - 1
11-5969447-C-T c.871C>T p.L291F Missense 3/3 - 2
11-5969451-A-C c.875A>C p.N292T Missense 3/3 - 1
11-5969452-C-T c.876C>T p.N292= Synonymous 3/3 - 2
11-5969453-C-T c.877C>T p.P293S Missense 3/3 - 1
11-5969454-CCCATCATTTACGGGGTG-C c.878_894del p.P293Qfs*6 Frameshift 3/3 - 1
11-5969451-AC-A c.879del p.I294Sfs*5 Frameshift 3/3 - 1
11-5969456-A-G c.880A>G p.I294V Missense 3/3 - 1
11-5969457-T-C c.881T>C p.I294T Missense 3/3 - 1
11-5969458-C-G c.882C>G p.I294M Missense 3/3 - 1
11-5969458-C-T c.882C>T p.I294= Synonymous 3/3 - 3
11-5969459-A-G c.883A>G p.I295V Missense 3/3 - 1
11-5969462-T-C c.886T>C p.Y296H Missense 3/3 - 1
11-5969464-C-T c.888C>T p.Y296= Synonymous 3/3 - 2
11-5969465-G-A c.889G>A p.G297R Missense 3/3 - 3
11-5969467-G-A c.891G>A p.G297= Synonymous 3/3 - 2
11-5969468-G-C c.892G>C p.V298L Missense 3/3 - 1
11-5969468-G-T c.892G>T p.V298L Missense 3/3 - 1
11-5969469-T-C c.893T>C p.V298A Missense 3/3 - 1
11-5969470-G-A c.894G>A p.V298= Synonymous 3/3 - 1
11-5969471-A-C c.895A>C p.R299= Synonymous 3/3 - 1
11-5969471-A-G c.895A>G p.R299G Missense 3/3 - 1
11-5969471-A-T c.895A>T p.R299* Nonsense 3/3 - 1
11-5969475-C-A c.899C>A p.T300N Missense 3/3 - 1
11-5969480-G-A c.904G>A p.E302K Missense 3/3 - 4
11-5969480-G-T c.904G>T p.E302* Nonsense 3/3 - 1
11-5969483-A-C c.907A>C p.I303L Missense 3/3 - 1
11-5969486-A-C c.910A>C p.K304Q Missense 3/3 - 1
11-5969487-A-G c.911A>G p.K304R Missense 3/3 - 1
11-5969489-C-T c.913C>T p.Q305* Nonsense 3/3 - 1
11-5969491-G-A c.915G>A p.Q305= Synonymous 3/3 - 2
11-5969492-G-A c.916G>A p.G306R Missense 3/3 - 1
11-5969493-G-T c.917G>T p.G306V Missense 3/3 - 1
11-5969494-A-G c.918A>G p.G306= Synonymous 3/3 - 1
11-5969497-G-A c.921G>A p.M307I Missense 3/3 - 1
11-5969497-G-C c.921G>C p.M307I Missense 3/3 - 1
11-5969497-G-T c.921G>T p.M307I Missense 3/3 - 2
11-5969498-C-A c.922C>A p.Q308K Missense 3/3 - 1
11-5969498-C-T c.922C>T p.Q308* Nonsense 3/3 - 1
11-5969500-G-C c.924G>C p.Q308H Missense 3/3 - 3
11-5969500-G-T c.924G>T p.Q308H Missense 3/3 - 3
11-5969501-A-T c.925A>T p.R309W Missense 3/3 - 1
11-5969502-G-A c.926G>A p.R309K Missense 3/3 - 2
11-5969502-G-C c.926G>C p.R309T Missense 3/3 - 2
11-5969507-T-C c.931T>C p.L311= Synonymous 3/3 - 1
11-5969509-G-A c.933G>A p.L311= Synonymous 3/3 - 2
11-5969509-G-C c.933G>C p.L311F Missense 3/3 - 2
11-5969512-G-A c.936G>A p.K312= Synonymous 3/3 - 2
11-5969513-A-G c.937A>G p.K313E Missense 3/3 - 1
11-5969516-G-T c.940G>T p.G314W Missense 3/3 - 1
11-5969517-G-A c.941G>A p.G314E Missense 3/3 - 3
11-5969517-G-T c.941G>T p.G314V Missense 3/3 - 1
11-5969518-G-T c.942G>T p.G314= Synonymous 3/3 - 1
11-5969532-C-G c.*8C>G - IntergenicSNV 3/3 - 1
11-5969534-C-T c.*10C>T - IntergenicSNV 3/3 - 1
11-5969535-T-A c.*11T>A - IntergenicSNV 3/3 - 1
11-5969536-G-A c.*12G>A - IntergenicSNV 3/3 - 1
11-5969537-G-T c.*13G>T - IntergenicSNV 3/3 - 1
11-5969539-T-G c.*15T>G - IntergenicSNV 3/3 - 1
11-5969556-T-C c.*32T>C - IntergenicSNV 3/3 - 1
11-5969564-T-C c.*40T>C - IntergenicSNV 3/3 - 1
11-5969566-T-C c.*42T>C - IntergenicSNV 3/3 - 1
11-5969569-T-C c.*45T>C - IntergenicSNV 3/3 - 1
11-5969576-T-C c.*52T>C - IntergenicSNV 3/3 - 1
11-5969579-A-G c.*55A>G - IntergenicSNV 3/3 - 1