SMOC1

SMOC1 SPARC related modular calcium binding 1

Annotation transcript: NM_001034852.3

615 unique variant annotations were identified in 319 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
14-70346396-A-G c.1A>G p.M1? Missense 1/12 - 1
14-70346415-C-T c.20C>T p.A7V Missense 1/12 - 1
14-70346416-C-A c.21C>A p.A7= Synonymous 1/12 - 1
14-70346416-C-G c.21C>G p.A7= Synonymous 1/12 - 1
14-70346416-C-T c.21C>T p.A7= Synonymous 1/12 - 1
14-70346419-C-CG c.24_25insG p.L9Afs*30 Frameshift 1/12 - 1
14-70346427-C-T c.32C>T p.T11M Missense 1/12 - 1
14-70346453-C-T c.58C>T p.Q20* Nonsense 1/12 - 1
14-70346455-G-A c.60G>A p.Q20= Synonymous 1/12 - 1
14-70346460-C-T c.65C>T p.S22F Missense 1/12 - 4
14-70346468-C-A c.73C>A p.R25S Missense 1/12 - 1
14-70346469-G-T c.74G>T p.R25L Missense 1/12 - 1
14-70346472-G-A c.77G>A p.G26D Missense 1/12 - 1
14-70346474-C-T c.79C>T p.H27Y Missense 1/12 - 1
14-70346477-C-T c.82C>T p.R28C Missense 1/12 - 2
14-70346491-C-A c.96C>A p.P32= Synonymous 1/12 - 1
14-70346494-G-A c.99G>A p.R33= Synonymous 1/12 - 1
14-70346494-G-C c.99G>C p.R33S Missense 1/12 - 1
14-70346494-G-T c.99G>T p.R33S Missense 1/12 - 1
14-70346689-C-T c.99+195C>T - IntronicSNV - 1/11 3
14-70346827-G-C c.99+333G>C - IntronicSNV - 1/11 1
14-70347348-A-G c.99+854A>G - IntronicSNV - 1/11 1
14-70347818-C-T c.99+1324C>T - IntronicSNV - 1/11 1
14-70347978-C-T c.99+1484C>T - IntronicSNV - 1/11 1
14-70348461-C-T c.99+1967C>T - IntronicSNV - 1/11 1
14-70349026-G-C c.99+2532G>C - IntronicSNV - 1/11 1
14-70349034-T-C c.99+2540T>C - IntronicSNV - 1/11 1
14-70349168-C-T c.99+2674C>T - IntronicSNV - 1/11 1
14-70349169-T-C c.99+2675T>C - IntronicSNV - 1/11 1
14-70352192-G-A c.99+5698G>A - IntronicSNV - 1/11 1
14-70352309-A-G c.99+5815A>G - IntronicSNV - 1/11 1
14-70352477-G-A c.99+5983G>A - IntronicSNV - 1/11 1
14-70352522-C-T c.99+6028C>T - IntronicSNV - 1/11 1
14-70352564-C-A c.99+6070C>A - IntronicSNV - 1/11 1
14-70352787-G-A c.99+6293G>A - IntronicSNV - 1/11 2
14-70352817-G-A c.99+6323G>A - IntronicSNV - 1/11 1
14-70354858-A-C c.99+8364A>C - IntronicSNV - 1/11 4
14-70354858-A-G c.99+8364A>G - IntronicSNV - 1/11 4
14-70365181-GT-G c.99+18697del - IntronicDeletion - 1/11 1
14-70365924-A-C c.99+19430A>C - IntronicSNV - 1/11 4
14-70365924-A-G c.99+19430A>G - IntronicSNV - 1/11 4
14-70373038-T-G c.99+26544T>G - IntronicSNV - 1/11 1
14-70377652-C-T c.99+31158C>T - IntronicSNV - 1/11 1
14-70377665-A-G c.99+31171A>G - IntronicSNV - 1/11 1
14-70379477-GT-G c.99+32992del - IntronicDeletion - 1/11 1
14-70380434-G-A c.99+33940G>A - IntronicSNV - 1/11 1
14-70384420-C-T c.100-34435C>T - IntronicSNV - 1/11 1
14-70387376-A-C c.100-31479A>C - IntronicSNV - 1/11 3
14-70387376-A-G c.100-31479A>G - IntronicSNV - 1/11 3
14-70391516-G-C c.100-27339G>C - IntronicSNV - 1/11 1
14-70395077-C-T c.100-23778C>T - IntronicSNV - 1/11 1
14-70404674-C-A c.100-14181C>A - IntronicSNV - 1/11 1
14-70404674-C-G c.100-14181C>G - IntronicSNV - 1/11 1
14-70404674-C-T c.100-14181C>T - IntronicSNV - 1/11 1
14-70409157-G-A c.100-9698G>A - IntronicSNV - 1/11 1
14-70418858-C-G c.103C>G p.L35V Missense 2/12 - 2
14-70418870-C-A c.115C>A p.R39S Missense 2/12 - 4
14-70418870-C-T c.115C>T p.R39C Missense 2/12 - 2
14-70418873-G-A c.118G>A p.D40N Missense 2/12 - 8
14-70418877-C-A c.122C>A p.P41Q Missense 2/12 - 2
14-70418879-C-T c.124C>T p.Q42* Nonsense 2/12 - 1
14-70418881-G-A c.126G>A p.Q42= Synonymous 2/12 - 22
14-70418881-G-C c.126G>C p.Q42H Missense 2/12 - 3
14-70418887-C-T c.132C>T p.N44= Synonymous 2/12 - 1
14-70418890-C-A c.135C>A p.L45= Synonymous 2/12 - 1
14-70418890-C-G c.135C>G p.L45= Synonymous 2/12 - 1
14-70418890-C-T c.135C>T p.L45= Synonymous 2/12 - 2
14-70418891-C-T c.136C>T p.H46Y Missense 2/12 - 1
14-70418896-C-T c.141C>T p.C47= Synonymous 2/12 - 2
14-70418897-T-C c.142T>C p.S48P Missense 2/12 - 2
14-70418899-C-T c.144C>T p.S48= Synonymous 2/12 - 1
14-70418901-G-A c.146G>A p.R49K Missense 2/12 - 2
14-70418902-G-C c.147G>C p.R49S Missense 2/12 - 1
14-70418902-G-T c.147G>T p.R49S Missense 2/12 - 1
14-70418903-A-G c.148A>G p.T50A Missense 2/12 - 1
14-70418905-T-C c.150T>C p.T50= Synonymous 2/12 - 1
14-70418906-C-T c.151C>T p.Q51* Nonsense 2/12 - 3
14-70418920-C-A c.165C>A p.I55= Synonymous 2/12 - 1
14-70418920-C-T c.165C>T p.I55= Synonymous 2/12 - 1
14-70418926-C-A c.171C>A p.A57= Synonymous 2/12 - 1
14-70418926-C-G c.171C>G p.A57= Synonymous 2/12 - 1
14-70418926-C-T c.171C>T p.A57= Synonymous 2/12 - 2
14-70418932-T-C c.177T>C p.D59= Synonymous 2/12 - 1
14-70418933-G-A c.178G>A p.G60S Missense 2/12 - 1
14-70418936-A-C c.181A>C p.R61= Synonymous 2/12 - 1
14-70418938-G-A c.183G>A p.R61= Synonymous 2/12 - 1
14-70418939-T-C c.184T>C p.S62P Missense 2/12 - 1
14-70418941-C-A c.186C>A p.S62= Synonymous 2/12 - 2
14-70418941-C-G c.186C>G p.S62= Synonymous 2/12 - 1
14-70418941-C-T c.186C>T p.S62= Synonymous 2/12 - 1
14-70418944-C-A c.189C>A p.Y63* Nonsense 2/12 - 2
14-70418944-C-G c.189C>G p.Y63* Nonsense 2/12 - 1
14-70418945-G-A c.190G>A p.E64K Missense 2/12 - 1
14-70418950-C-T c.195C>T p.S65= Synonymous 2/12 - 3
14-70418954-T-C c.199T>C p.C67R Missense 2/12 - 1
14-70418959-G-T c.204G>T p.E68D Missense 2/12 - 1
14-70418964-A-G c.209A>G p.Q70R Missense 2/12 - 1
14-70418966-C-T c.211C>T p.R71* Nonsense 2/12 - 6
14-70418967-G-A c.212G>A p.R71Q Missense 2/12 - 8
14-70418978-C-T c.223C>T p.R75* Nonsense 2/12 - 2
14-70418979-G-A c.224G>A p.R75Q Missense 2/12 - 2
14-70418985-C-T c.230C>T p.P77L Missense 2/12 - 6
14-70418986-G-A c.231G>A p.P77= Synonymous 2/12 - 1
14-70418989-C-A c.234C>A p.T78= Synonymous 2/12 - 1
14-70418989-C-G c.234C>G p.T78= Synonymous 2/12 - 1
14-70418989-C-T c.234C>T p.T78= Synonymous 2/12 - 2
14-70418990-C-A c.235C>A p.L79M Missense 2/12 - 1
14-70418990-C-G c.235C>G p.L79V Missense 2/12 - 2
14-70418994-G-A c.239G>A p.G80D Missense 2/12 - 1
14-70418995-C-T c.240C>T p.G80= Synonymous 2/12 - 4
14-70418996-G-A c.241G>A p.V81M Missense 2/12 - 2
14-70418998-G-A c.243G>A p.V81= Synonymous 2/12 - 3
14-70418999-G-A c.244G>A p.V82M Missense 2/12 - 4
14-70419005-C-T c.250C>T p.R84* Nonsense 2/12 - 3
14-70419006-G-A c.251G>A p.R84Q Missense 2/12 - 7
14-70419008-G-C c.253G>C p.G85R Missense 2/12 - 2
14-70419016-C-A c.261C>A p.C87* Nonsense 2/12 - 1
14-70419266-G-A c.265+246G>A - IntronicSNV - 2/11 1
14-70420142-G-T c.271G>T p.G91C Missense 3/12 - 1
14-70420143-G-T c.272G>T p.G91V Missense 3/12 - 1
14-70420144-C-T c.273C>T p.G91= Synonymous 3/12 - 2
14-70420145-C-T c.274C>T p.Q92* Nonsense 3/12 - 5
14-70420149-G-A c.278G>A p.S93N Missense 3/12 - 2
14-70420152-A-T c.281A>T p.K94M Missense 3/12 - 1
14-70420156-T-C c.285T>C p.C95= Synonymous 3/12 - 1
14-70420157-C-T c.286C>T p.R96C Missense 3/12 - 10
14-70420158-G-A c.287G>A p.R96H Missense 3/12 - 2
14-70420161-T-C c.290T>C p.L97P Missense 3/12 - 1
14-70420160-C-T c.289C>T p.L97= Synonymous 3/12 - 1
14-70420162-G-A c.291G>A p.L97= Synonymous 3/12 - 4
14-70420162-G-C c.291G>C p.L97= Synonymous 3/12 - 1
14-70420162-G-T c.291G>T p.L97= Synonymous 3/12 - 1
14-70420166-C-T c.295C>T p.R99W Missense 3/12 - 3
14-70420167-G-A c.296G>A p.R99Q Missense 3/12 - 1
14-70420168-G-A c.297G>A p.R99= Synonymous 3/12 - 1
14-70420169-G-GCCAAGCCCTGGAGCAAGC c.299_300insCAAGCCCTGGAGCAAGCC p.A100_Q101insKPWSKP InFrameInsertion 3/12 - 1
14-70420170-C-T c.299C>T p.A100V Missense 3/12 - 3
14-70420177-C-A c.306C>A p.A102= Synonymous 3/12 - 1
14-70420177-C-T c.306C>T p.A102= Synonymous 3/12 - 3
14-70420178-C-A c.307C>A p.L103M Missense 3/12 - 1
14-70420186-A-C c.315A>C p.Q105H Missense 3/12 - 1
14-70420186-A-T c.315A>T p.Q105H Missense 3/12 - 1
14-70420188-C-A c.317C>A p.A106D Missense 3/12 - 1
14-70420188-C-T c.317C>T p.A106V Missense 3/12 - 2
14-70420190-A-C c.319A>C p.K107Q Missense 3/12 - 4
14-70420192-G-C c.321G>C p.K107N Missense 3/12 - 1
14-70420192-G-T c.321G>T p.K107N Missense 3/12 - 1
14-70420198-T-A c.327T>A p.P109= Synonymous 3/12 - 1
14-70420198-T-C c.327T>C p.P109= Synonymous 3/12 - 1
14-70420198-T-G c.327T>G p.P109= Synonymous 3/12 - 1
14-70420201-G-A c.330G>A p.Q110= Synonymous 3/12 - 2
14-70420202-G-A c.331G>A p.E111K Missense 3/12 - 4
14-70420206-C-A c.335C>A p.A112D Missense 3/12 - 1
14-70420210-G-A c.339G>A p.V113= Synonymous 3/12 - 1
14-70420210-G-C c.339G>C p.V113= Synonymous 3/12 - 1
14-70420210-G-T c.339G>T p.V113= Synonymous 3/12 - 1
14-70420211-T-G c.340T>G p.F114V Missense 3/12 - 1
14-70420216-C-T c.345C>T p.V115= Synonymous 3/12 - 1
14-70420217-C-T c.346C>T p.P116S Missense 3/12 - 2
14-70420219-A-C c.348A>C p.P116= Synonymous 3/12 - 1
14-70420219-A-G c.348A>G p.P116= Synonymous 3/12 - 1
14-70420219-A-T c.348A>T p.P116= Synonymous 3/12 - 1
14-70420220-G-T c.349G>T p.E117* Nonsense 3/12 - 1
14-70420221-A-G c.350A>G p.E117G Missense 3/12 - 1
14-70420223-T-C c.352T>C p.C118R Missense 3/12 - 1
14-70420226-G-A c.355G>A p.G119S Missense 3/12 - 2
14-70420229-G-A c.358G>A p.E120K Missense 3/12 - 2
14-70420231-G-A c.360G>A p.E120= Synonymous 3/12 - 1
14-70420232-G-A c.361G>A p.D121N Missense 3/12 - 1
14-70420238-T-C c.367T>C p.S123P Missense 3/12 - 2
14-70420239-C-T c.368C>T p.S123F Missense 3/12 - 5
14-70420240-C-T c.369C>T p.S123= Synonymous 3/12 - 4
14-70420242-T-G c.371T>G p.F124C Missense 3/12 - 1
14-70420249-G-C c.378G>C p.Q126H Missense 3/12 - 3
14-70420249-G-T c.378G>T p.Q126H Missense 3/12 - 3
14-70420250-G-A c.378+1G>A - IntronicSNV - 3/11 1
14-70420250-G-T c.378+1G>T - IntronicSNV - 3/11 1
14-70420263-C-T c.378+14C>T - IntronicSNV - 3/11 1
14-70420300-G-T c.378+51G>T - IntronicSNV - 3/11 1
14-70431113-G-T c.378+10864G>T - IntronicSNV - 3/11 1
14-70442433-T-C c.380T>C p.V127A Missense 4/12 - 1
14-70442435-C-A c.382C>A p.Q128K Missense 4/12 - 1
14-70442435-C-T c.382C>T p.Q128* Nonsense 4/12 - 1
14-70442445-C-G c.392C>G p.T131S Missense 4/12 - 1
14-70442447-T-TA c.395dup p.Y132* Nonsense 4/12 - 2
14-70442449-AC-A c.396del p.Y132* Frameshift 4/12 - 1
14-70442453-G-T c.400G>T p.G134W Missense 4/12 - 2
14-70442456-T-A c.403T>A p.Y135N Missense 4/12 - 2
14-70442463-G-T c.410G>T p.W137L Missense 4/12 - 1
14-70442466-G-T c.413G>T p.C138F Missense 4/12 - 1
14-70442469-T-C c.416T>C p.V139A Missense 4/12 - 1
14-70442470-C-T c.417C>T p.V139= Synonymous 4/12 - 1
14-70442474-C-A c.421C>A p.P141T Missense 4/12 - 1
14-70442474-C-T c.421C>T p.P141S Missense 4/12 - 4
14-70442475-C-T c.422C>T p.P141L Missense 4/12 - 4
14-70442476-G-A c.423G>A p.P141= Synonymous 4/12 - 5
14-70442476-G-C c.423G>C p.P141= Synonymous 4/12 - 4
14-70442476-G-T c.423G>T p.P141= Synonymous 4/12 - 4
14-70442477-G-A c.424G>A p.D142N Missense 4/12 - 1
14-70442478-A-G c.425A>G p.D142G Missense 4/12 - 1
14-70442480-G-A c.427G>A p.G143R Missense 4/12 - 2
14-70442480-G-C c.427G>C p.G143R Missense 4/12 - 2
14-70442486-C-A c.433C>A p.P145T Missense 4/12 - 5
14-70442491-C-A c.438C>A p.I146= Synonymous 4/12 - 1
14-70442491-C-T c.438C>T p.I146= Synonymous 4/12 - 1
14-70442499-C-G c.446C>G p.S149C Missense 4/12 - 2
14-70442500-TTC-T c.449_450del p.S150Cfs*4 Frameshift 4/12 - 1
14-70442502-C-T c.449C>T p.S150F Missense 4/12 - 3
14-70442513-A-G c.460A>G p.K154E Missense 4/12 - 1
14-70442520-C-T c.467C>T p.P156L Missense 4/12 - 1
14-70442529-C-T c.476C>T p.S159L Missense 4/12 - 4
14-70442531-G-A c.478G>A p.G160S Missense 4/12 - 4
14-70442617-G-C c.478+86G>C - IntronicSNV - 4/11 1
14-70442987-A-G c.478+456A>G - IntronicSNV - 4/11 1
14-70444465-C-T c.479-170C>T - IntronicSNV - 4/11 1
14-70444645-C-A c.489C>A p.T163= Synonymous 5/12 - 1
14-70444645-C-G c.489C>G p.T163= Synonymous 5/12 - 1
14-70444645-C-T c.489C>T p.T163= Synonymous 5/12 - 1
14-70444647-A-G c.491A>G p.D164G Missense 5/12 - 3
14-70444651-G-A c.495G>A p.K165= Synonymous 5/12 - 1
14-70444652-C-T c.496C>T p.P166S Missense 5/12 - 1
14-70444656-T-A c.500T>A p.L167* Nonsense 5/12 - 4
14-70444659-G-A c.503G>A p.S168N Missense 5/12 - 1
14-70444663-G-A c.507G>A p.Q169= Synonymous 5/12 - 1
14-70444664-G-A c.508G>A p.G170S Missense 5/12 - 1
14-70444664-G-T c.508G>T p.G170C Missense 5/12 - 2
14-70444665-G-A c.509G>A p.G170D Missense 5/12 - 1
14-70444667-A-G c.511A>G p.N171D Missense 5/12 - 1
14-70444674-G-T c.518G>T p.G173V Missense 5/12 - 1
14-70444676-AGG-TGT c.520_522delinsTGT p.R174C Missense 5/12 - 1
14-70444678-G-A c.522G>A p.R174= Synonymous 5/12 - 5
14-70444679-A-G c.523A>G p.K175E Missense 5/12 - 1
14-70444790-G-A c.526+108G>A - IntronicSNV - 5/11 1
14-70445106-A-C c.526+424A>C - IntronicSNV - 5/11 1
14-70445106-A-G c.526+424A>G - IntronicSNV - 5/11 1
14-70446782-G-A c.526+2100G>A - IntronicSNV - 5/11 1
14-70446782-G-T c.526+2100G>T - IntronicSNV - 5/11 1
14-70446781-TG-T c.526+2106del - IntronicDeletion - 5/11 1
14-70448865-T-C c.526+4183T>C - IntronicSNV - 5/11 1
14-70455467-G-A c.527-3667G>A - IntronicSNV - 5/11 1
14-70455523-G-A c.527-3611G>A - IntronicSNV - 5/11 1
14-70456664-G-C c.527-2470G>C - IntronicSNV - 5/11 3
14-70456664-G-T c.527-2470G>T - IntronicSNV - 5/11 3
14-70456699-T-A c.527-2435T>A - IntronicSNV - 5/11 7
14-70456699-T-G c.527-2435T>G - IntronicSNV - 5/11 7
14-70456804-A-C c.527-2330A>C - IntronicSNV - 5/11 2
14-70456804-A-T c.527-2330A>T - IntronicSNV - 5/11 2
14-70457644-A-G c.527-1490A>G - IntronicSNV - 5/11 2
14-70457644-A-T c.527-1490A>T - IntronicSNV - 5/11 2
14-70457653-A-C c.527-1481A>C - IntronicSNV - 5/11 1
14-70458035-C-T c.527-1099C>T - IntronicSNV - 5/11 1
14-70459136-G-A c.529G>A p.D177N Missense 6/12 - 2
14-70459138-C-T c.531C>T p.D177= Synonymous 6/12 - 3
14-70459139-G-A c.532G>A p.G178R Missense 6/12 - 4
14-70459139-G-C c.532G>C p.G178R Missense 6/12 - 2
14-70459140-G-A c.533G>A p.G178E Missense 6/12 - 9
14-70459140-G-T c.533G>T p.G178V Missense 6/12 - 2
14-70459143-C-G c.536C>G p.S179C Missense 6/12 - 1
14-70459143-C-T c.536C>T p.S179F Missense 6/12 - 1
14-70459150-G-T c.543G>T p.P181= Synonymous 6/12 - 1
14-70459151-A-G c.544A>G p.T182A Missense 6/12 - 1
14-70459152-C-G c.545C>G p.T182R Missense 6/12 - 2
14-70459152-C-T c.545C>T p.T182I Missense 6/12 - 1
14-70459154-C-A c.547C>A p.P183T Missense 6/12 - 1
14-70459154-C-G c.547C>G p.P183A Missense 6/12 - 1
14-70459158-C-T c.551C>T p.T184M Missense 6/12 - 2
14-70459159-G-A c.552G>A p.T184= Synonymous 6/12 - 3
14-70459163-G-A c.556G>A p.E186K Missense 6/12 - 6
14-70459173-C-T c.566C>T p.P189L Missense 6/12 - 1
14-70459174-G-A c.567G>A p.P189= Synonymous 6/12 - 3
14-70459174-G-C c.567G>C p.P189= Synonymous 6/12 - 3
14-70459174-G-T c.567G>T p.P189= Synonymous 6/12 - 4
14-70459180-C-T c.573C>T p.F191= Synonymous 6/12 - 1
14-70459181-G-A c.574G>A p.D192N Missense 6/12 - 3
14-70459184-G-A c.577G>A p.G193R Missense 6/12 - 2
14-70459187-G-A c.580G>A p.D194N Missense 6/12 - 1
14-70459187-G-T c.580G>T p.D194Y Missense 6/12 - 1
14-70459189-T-A c.582T>A p.D194E Missense 6/12 - 2
14-70459191-G-A c.583+1G>A - IntronicSNV - 6/11 1
14-70459209-T-A c.583+19T>A - IntronicSNV - 6/11 1
14-70459230-C-T c.583+40C>T - IntronicSNV - 6/11 1
14-70459370-T-C c.583+180T>C - IntronicSNV - 6/11 4
14-70461121-C-A c.588C>A p.I196= Synonymous 7/12 - 1
14-70461121-C-T c.588C>T p.I196= Synonymous 7/12 - 2
14-70461123-C-A c.590C>A p.T197K Missense 7/12 - 3
14-70461125-G-T c.592G>T p.A198S Missense 7/12 - 1
14-70461126-C-T c.593C>T p.A198V Missense 7/12 - 1
14-70461130-A-C c.597A>C p.P199= Synonymous 7/12 - 1
14-70461130-A-G c.597A>G p.P199= Synonymous 7/12 - 1
14-70461130-A-T c.597A>T p.P199= Synonymous 7/12 - 1
14-70461131-A-G c.598A>G p.T200A Missense 7/12 - 1
14-70461134-CT-TC c.601_602delinsTC p.L201S Missense 7/12 - 1
14-70461138-G-A c.605G>A p.W202* Nonsense 7/12 - 5
14-70461139-G-A c.606G>A p.W202* Nonsense 7/12 - 2
14-70461144-A-G c.611A>G p.K204R Missense 7/12 - 1
14-70461161-G-T c.628G>T p.D210Y Missense 7/12 - 1
14-70461168-A-G c.635A>G p.K212R Missense 7/12 - 1
14-70461169-A-C c.636A>C p.K212N Missense 7/12 - 1
14-70461169-A-T c.636A>T p.K212N Missense 7/12 - 1
14-70461172-G-T c.639G>T p.L213= Synonymous 7/12 - 1
14-70461183-A-G c.650A>G p.N217S Missense 7/12 - 2
14-70461185-A-C c.652A>C p.I218L Missense 7/12 - 1
14-70461185-A-T c.652A>T p.I218L Missense 7/12 - 2
14-70461186-T-C c.653T>C p.I218T Missense 7/12 - 2
14-70461189-G-A c.656G>A p.R219K Missense 7/12 - 6
14-70461188-A-C c.655A>C p.R219= Synonymous 7/12 - 4
14-70461190-A-C c.657A>C p.R219S Missense 7/12 - 1
14-70461190-A-G c.657A>G p.R219= Synonymous 7/12 - 1
14-70461190-A-T c.657A>T p.R219S Missense 7/12 - 1
14-70461195-C-T c.662C>T p.S221L Missense 7/12 - 4
14-70461197-G-A c.664G>A p.E222K Missense 7/12 - 1
14-70461198-G-A c.664+1G>A - IntronicSNV - 7/11 2
14-70461199-T-G c.664+2T>G - IntronicSNV - 7/11 1
14-70461272-G-T c.664+75G>T - IntronicSNV - 7/11 1
14-70465571-G-GT c.664+4381dup - IntronicInsertion - 7/11 1
14-70469120-T-C c.664+7923T>C - IntronicSNV - 7/11 1
14-70469255-A-C c.664+8058A>C - IntronicSNV - 7/11 1
14-70477483-C-T c.677C>T p.S226L Missense 8/12 - 6
14-70477484-G-A c.678G>A p.S226= Synonymous 8/12 - 2
14-70477484-G-C c.678G>C p.S226= Synonymous 8/12 - 1
14-70477484-G-T c.678G>T p.S226= Synonymous 8/12 - 1
14-70477487-T-A c.681T>A p.C227* Nonsense 8/12 - 1
14-70477488-G-A c.682G>A p.D228N Missense 8/12 - 1
14-70477491-C-T c.685C>T p.Q229* Nonsense 8/12 - 1
14-70477502-G-A c.696G>A p.Q232= Synonymous 8/12 - 1
14-70477508-C-A c.702C>A p.A234= Synonymous 8/12 - 1
14-70477508-C-G c.702C>G p.A234= Synonymous 8/12 - 16
14-70477508-C-T c.702C>T p.A234= Synonymous 8/12 - 18
14-70477509-C-A c.703C>A p.L235M Missense 8/12 - 1
14-70477510-T-A c.704T>A p.L235Q Missense 8/12 - 1
14-70477512-G-T c.706G>T p.E236* Nonsense 8/12 - 2
14-70477514-A-G c.708A>G p.E236= Synonymous 8/12 - 1
14-70477515-G-A c.709G>A p.E237K Missense 8/12 - 1
14-70477519-C-A c.713C>A p.A238D Missense 8/12 - 3
14-70477523-G-C c.717G>C p.Q239H Missense 8/12 - 1
14-70477523-G-T c.717G>T p.Q239H Missense 8/12 - 1
14-70477524-C-A c.718C>A p.Q240K Missense 8/12 - 1
14-70477524-C-T c.718C>T p.Q240* Nonsense 8/12 - 1
14-70477526-G-A c.720G>A p.Q240= Synonymous 8/12 - 1
14-70477527-A-T c.721A>T p.N241Y Missense 8/12 - 1
14-70477530-C-A c.724C>A p.P242T Missense 8/12 - 1
14-70477532-C-T c.726C>T p.P242= Synonymous 8/12 - 2
14-70477533-C-T c.727C>T p.R243C Missense 8/12 - 2
14-70477534-G-A c.728G>A p.R243H Missense 8/12 - 1
14-70477534-G-T c.728G>T p.R243L Missense 8/12 - 1
14-70477537-A-T c.731A>T p.E244V Missense 8/12 - 1
14-70477539-G-A c.733G>A p.G245S Missense 8/12 - 1
14-70477540-G-T c.734G>T p.G245V Missense 8/12 - 1
14-70477543-T-C c.737T>C p.I246T Missense 8/12 - 1
14-70477546-T-C c.740T>C p.V247A Missense 8/12 - 3
14-70477547-C-T c.741C>T p.V247= Synonymous 8/12 - 2
14-70477550-C-T c.744C>T p.I248= Synonymous 8/12 - 2
14-70477552-C-A c.746C>A p.P249H Missense 8/12 - 4
14-70477552-C-T c.746C>T p.P249L Missense 8/12 - 1
14-70477558-G-T c.752G>T p.C251F Missense 8/12 - 2
14-70477560-G-T c.754G>T p.A252S Missense 8/12 - 1
14-70477560-G-GC c.758dup p.G254Wfs*5 Frameshift 8/12 - 1
14-70477566-G-A c.760G>A p.G254R Missense 8/12 - 1
14-70477567-G-C c.761G>C p.G254A Missense 8/12 - 1
14-70477569-G-A c.763G>A p.G255R Missense 8/12 - 4
14-70477570-G-T c.764G>T p.G255V Missense 8/12 - 1
14-70477572-C-A c.766C>A p.L256I Missense 8/12 - 1
14-70477591-G-A c.785G>A p.C262Y Missense 8/12 - 1
14-70477595-C-A c.789C>A p.H263Q Missense 8/12 - 1
14-70477595-C-G c.789C>G p.H263Q Missense 8/12 - 1
14-70477596-C-T c.790C>T p.Q264* Nonsense 8/12 - 3
14-70477600-C-T c.794C>T p.S265F Missense 8/12 - 2
14-70477603-C-T c.797C>T p.T266I Missense 8/12 - 1
14-70477608-T-G c.802T>G p.Y268D Missense 8/12 - 1
14-70477618-G-A c.812G>A p.C271Y Missense 8/12 - 1
14-70477622-G-A c.816G>A p.V272= Synonymous 8/12 - 1
14-70477622-G-C c.816G>C p.V272= Synonymous 8/12 - 2
14-70477622-G-T c.816G>T p.V272= Synonymous 8/12 - 1
14-70477623-C-T c.817C>T p.L273= Synonymous 8/12 - 2
14-70477625-G-A c.819G>A p.L273= Synonymous 8/12 - 1
14-70477625-G-C c.819G>C p.L273= Synonymous 8/12 - 3
14-70477625-G-T c.819G>T p.L273= Synonymous 8/12 - 1
14-70477632-A-T c.826A>T p.T276S Missense 8/12 - 1
14-70477638-C-T c.832C>T p.R278C Missense 8/12 - 11
14-70477639-G-A c.833G>A p.R278H Missense 8/12 - 6
14-70477641-C-G c.835C>G p.P279A Missense 8/12 - 3
14-70477653-A-G c.847A>G p.T283A Missense 8/12 - 1
14-70477654-C-A c.848C>A p.T283N Missense 8/12 - 3
14-70477655-C-A c.849C>A p.T283= Synonymous 8/12 - 1
14-70477657-C-T c.851C>T p.S284F Missense 8/12 - 1
14-70477662-C-T c.856C>T p.R286C Missense 8/12 - 1
14-70477663-G-A c.857G>A p.R286H Missense 8/12 - 6
14-70477664-G-C c.857+1G>C - IntronicSNV - 8/11 1
14-70477695-C-T c.857+32C>T - IntronicSNV - 8/11 6
14-70477702-G-A c.857+39G>A - IntronicSNV - 8/11 1
14-70477702-G-C c.857+39G>C - IntronicSNV - 8/11 1
14-70477786-A-G c.857+123A>G - IntronicSNV - 8/11 1
14-70477942-G-A c.858-260G>A - IntronicSNV - 8/11 2
14-70478175-A-C c.858-27A>C - IntronicSNV - 8/11 4
14-70478175-A-T c.858-27A>T - IntronicSNV - 8/11 4
14-70478176-C-A c.858-26C>A - IntronicSNV - 8/11 2
14-70478176-C-T c.858-26C>T - IntronicSNV - 8/11 2
14-70478178-C-G c.858-24C>G - IntronicSNV - 8/11 1
14-70478178-C-T c.858-24C>T - IntronicSNV - 8/11 1
14-70478183-C-A c.858-19C>A - IntronicSNV - 8/11 6
14-70478205-C-G c.861C>G p.Y287* Nonsense 9/12 - 1
14-70478205-C-T c.861C>T p.Y287= Synonymous 9/12 - 4
14-70478206-G-A c.862G>A p.V288M Missense 9/12 - 7
14-70478208-G-A c.864G>A p.V288= Synonymous 9/12 - 3
14-70478211-G-A c.867G>A p.M289I Missense 9/12 - 1
14-70478213-C-T c.869C>T p.P290L Missense 9/12 - 1
14-70478221-G-T c.877G>T p.E293* Nonsense 9/12 - 2
14-70478223-G-C c.879G>C p.E293D Missense 9/12 - 1
14-70478226-C-T c.882C>T p.S294= Synonymous 9/12 - 2
14-70478227-G-A c.883G>A p.D295N Missense 9/12 - 1
14-70478227-G-T c.883G>T p.D295Y Missense 9/12 - 1
14-70478229-C-T c.885C>T p.D295= Synonymous 9/12 - 1
14-70478230-G-A c.886G>A p.A296T Missense 9/12 - 1
14-70478233-A-T c.889A>T p.R297W Missense 9/12 - 1
14-70478234-G-A c.890G>A p.R297K Missense 9/12 - 1
14-70478237-C-T c.893C>T p.A298V Missense 9/12 - 3
14-70478238-C-A c.894C>A p.A298= Synonymous 9/12 - 1
14-70478238-C-G c.894C>G p.A298= Synonymous 9/12 - 1
14-70478238-C-T c.894C>T p.A298= Synonymous 9/12 - 3
14-70478242-A-G c.898A>G p.T300A Missense 9/12 - 1
14-70478243-C-T c.899C>T p.T300I Missense 9/12 - 1
14-70478253-G-A c.909G>A p.A303= Synonymous 9/12 - 1
14-70478253-G-C c.909G>C p.A303= Synonymous 9/12 - 1
14-70478253-G-T c.909G>T p.A303= Synonymous 9/12 - 1
14-70478252-CG-C c.910del p.D304Mfs*60 Frameshift 9/12 - 1
14-70478254-G-A c.910G>A p.D304N Missense 9/12 - 2
14-70478254-G-T c.910G>T p.D304Y Missense 9/12 - 2
14-70478257-G-T c.913G>T p.D305Y Missense 9/12 - 2
14-70478258-A-T c.914A>T p.D305V Missense 9/12 - 1
14-70478265-C-T c.921C>T p.F307= Synonymous 9/12 - 1
14-70478266-A-G c.922A>G p.K308E Missense 9/12 - 1
14-70478267-A-G c.923A>G p.K308R Missense 9/12 - 1
14-70478268-G-A c.924G>A p.K308= Synonymous 9/12 - 1
14-70478269-G-T c.925G>T p.D309Y Missense 9/12 - 1
14-70478270-A-C c.926A>C p.D309A Missense 9/12 - 2
14-70478272-AGG-TGT c.928_930delinsTGT p.R310C Missense 9/12 - 1
14-70478273-G-A c.929G>A p.R310K Missense 9/12 - 1
14-70478272-A-C c.928A>C p.R310= Synonymous 9/12 - 1
14-70478274-G-A c.930G>A p.R310= Synonymous 9/12 - 1
14-70478275-G-A c.931G>A p.E311K Missense 9/12 - 4
14-70478281-C-T c.937C>T p.P313S Missense 9/12 - 1
14-70478282-C-A c.938C>A p.P313Q Missense 9/12 - 1
14-70478284-G-A c.940G>A p.G314S Missense 9/12 - 1
14-70480104-C-T c.942C>T p.G314= Synonymous 10/12 - 1
14-70480109-C-T c.947C>T p.P316L Missense 10/12 - 1
14-70480111-G-A c.949G>A p.E317K Missense 10/12 - 1
14-70480111-G-C c.949G>C p.E317Q Missense 10/12 - 1
14-70480120-A-G c.958A>G p.K320E Missense 10/12 - 1
14-70480124-T-G c.962T>G p.M321R Missense 10/12 - 1
14-70480126-G-A c.964G>A p.E322K Missense 10/12 - 3
14-70480128-G-A c.966G>A p.E322= Synonymous 10/12 - 1
14-70480129-T-C c.967T>C p.F323L Missense 10/12 - 1
14-70480138-A-G c.976A>G p.S326G Missense 10/12 - 1
14-70480148-A-G c.986A>G p.D329G Missense 10/12 - 1
14-70480150-G-A c.988G>A p.A330T Missense 10/12 - 1
14-70480152-T-G c.990T>G p.A330= Synonymous 10/12 - 1
14-70480153-C-T c.991C>T p.L331F Missense 10/12 - 1
14-70480160-CT-TG c.998_999delinsTG p.T333M Missense 10/12 - 1
14-70480165-A-G c.1003A>G p.M335V Missense 10/12 - 1
14-70480168-G-A c.1006G>A p.V336I Missense 10/12 - 3
14-70480168-G-C c.1006G>C p.V336L Missense 10/12 - 1
14-70480172-A-G c.1010A>G p.Q337R Missense 10/12 - 1
14-70480177-A-G c.1015A>G p.I339V Missense 10/12 - 1
14-70480178-T-C c.1016T>C p.I339T Missense 10/12 - 1
14-70480181-A-T c.1019A>T p.N340I Missense 10/12 - 1
14-70480182-C-A c.1020C>A p.N340K Missense 10/12 - 2
14-70480182-C-G c.1020C>G p.N340K Missense 10/12 - 1
14-70480183-T-G c.1021T>G p.S341A Missense 10/12 - 1
14-70480189-G-A c.1027G>A p.A343T Missense 10/12 - 1
14-70480189-G-C c.1027G>C p.A343P Missense 10/12 - 2
14-70480190-C-T c.1028C>T p.A343V Missense 10/12 - 1
14-70480191-G-T c.1029G>T p.A343= Synonymous 10/12 - 1
14-70480192-C-T c.1030C>T p.P344S Missense 10/12 - 1
14-70480196-C-A c.1034C>A p.T345N Missense 10/12 - 1
14-70480198-GGA-TGG c.1036_1038delinsTGG p.G346W Missense 10/12 - 1
14-70480205-G-A c.1043G>A p.G348E Missense 10/12 - 1
14-70480215-T-A c.1046+7T>A - IntronicSNV - 10/11 6
14-70480215-T-C c.1046+7T>C - IntronicSNV - 10/11 2
14-70480236-AG-A c.1046+30del - IntronicDeletion - 10/11 1
14-70487396-C-T c.1047-2524C>T - IntronicSNV - 10/11 1
14-70489680-T-G c.1047-240T>G - IntronicSNV - 10/11 1
14-70489920-G-A c.1047G>A p.R349= Synonymous 11/12 - 1
14-70489925-C-A c.1052C>A p.S351* Nonsense 11/12 - 1
14-70489925-C-T c.1052C>T p.S351L Missense 11/12 - 2
14-70489929-G-A c.1056G>A p.E352= Synonymous 11/12 - 1
14-70489935-C-T c.1062C>T p.D354= Synonymous 11/12 - 2
14-70489936-C-T c.1063C>T p.P355S Missense 11/12 - 1
14-70489937-C-T c.1064C>T p.P355L Missense 11/12 - 1
14-70489940-G-A c.1067G>A p.S356N Missense 11/12 - 1
14-70489948-C-A c.1075C>A p.L359M Missense 11/12 - 1
14-70489952-A-T c.1079A>T p.E360V Missense 11/12 - 2
14-70489953-G-T c.1080G>T p.E360D Missense 11/12 - 4
14-70489956-G-C c.1083G>C p.E361D Missense 11/12 - 1
14-70489956-G-T c.1083G>T p.E361D Missense 11/12 - 1
14-70489957-C-A c.1084C>A p.R362= Synonymous 11/12 - 1
14-70489957-C-T c.1084C>T p.R362W Missense 11/12 - 2
14-70489958-G-A c.1085G>A p.R362Q Missense 11/12 - 3
14-70489958-G-C c.1085G>C p.R362P Missense 11/12 - 2
14-70489958-G-T c.1085G>T p.R362L Missense 11/12 - 2
14-70489962-A-C c.1089A>C p.V363= Synonymous 11/12 - 2
14-70489962-A-G c.1089A>G p.V363= Synonymous 11/12 - 1
14-70489962-A-T c.1089A>T p.V363= Synonymous 11/12 - 1
14-70489963-G-C c.1090G>C p.V364L Missense 11/12 - 1
14-70489963-G-T c.1090G>T p.V364L Missense 11/12 - 1
14-70489964-T-C c.1091T>C p.V364A Missense 11/12 - 2
14-70489966-C-T c.1093C>T p.H365Y Missense 11/12 - 1
14-70489972-T-C c.1099T>C p.Y367H Missense 11/12 - 1
14-70489975-T-A c.1102T>A p.F368I Missense 11/12 - 1
14-70489977-C-T c.1104C>T p.F368= Synonymous 11/12 - 3
14-70489978-AG-CT c.1105_1106inv p.S369L Missense 11/12 - 1
14-70489979-G-A c.1106G>A p.S369N Missense 11/12 - 1
14-70489980-C-T c.1107C>T p.S369= Synonymous 11/12 - 1
14-70489981-C-T c.1108C>T p.Q370* Nonsense 11/12 - 2
14-70489989-C-A c.1116C>A p.D372E Missense 11/12 - 1
14-70489989-C-G c.1116C>G p.D372E Missense 11/12 - 1
14-70489990-A-G c.1117A>G p.S373G Missense 11/12 - 1
14-70489993-A-C c.1120A>C p.N374H Missense 11/12 - 1
14-70489995-T-A c.1122T>A p.N374K Missense 11/12 - 1
14-70489995-T-G c.1122T>G p.N374K Missense 11/12 - 1
14-70489996-A-C c.1123A>C p.S375R Missense 11/12 - 1
14-70490001-C-T c.1128C>T p.S376= Synonymous 11/12 - 1
14-70490004-C-T c.1131C>T p.N377= Synonymous 11/12 - 1
14-70490005-G-A c.1132G>A p.D378N Missense 11/12 - 5
14-70490014-AA-GC c.1141_1142delinsGC p.K381A Missense 11/12 - 1
14-70490017-C-T c.1144C>T p.R382W Missense 11/12 - 1
14-70490018-G-A c.1145G>A p.R382Q Missense 11/12 - 5
14-70490020-G-A c.1147G>A p.E383K Missense 11/12 - 1
14-70490020-G-T c.1147G>T p.E383* Nonsense 11/12 - 1
14-70490021-A-G c.1148A>G p.E383G Missense 11/12 - 1
14-70490022-G-C c.1149G>C p.E383D Missense 11/12 - 1
14-70490022-G-T c.1149G>T p.E383D Missense 11/12 - 1
14-70490025-G-A c.1152G>A p.M384I Missense 11/12 - 1
14-70490025-G-T c.1152G>T p.M384I Missense 11/12 - 1
14-70490029-C-T c.1156C>T p.P386S Missense 11/12 - 2
14-70490034-C-T c.1161C>T p.F387= Synonymous 11/12 - 2
14-70490037-G-A c.1164G>A p.K388= Synonymous 11/12 - 1
14-70490038-C-A c.1165C>A p.R389S Missense 11/12 - 1
14-70490038-CG-GC c.1165_1166delinsGC p.R389A Missense 11/12 - 1
14-70490038-C-T c.1165C>T p.R389C Missense 11/12 - 3
14-70490039-G-A c.1166G>A p.R389H Missense 11/12 - 2
14-70490043-C-A c.1170C>A p.Y390* Nonsense 11/12 - 2
14-70490043-C-G c.1170C>G p.Y390* Nonsense 11/12 - 2
14-70490043-C-T c.1170C>T p.Y390= Synonymous 11/12 - 1
14-70490044-G-A c.1171G>A p.V391M Missense 11/12 - 2
14-70490044-G-C c.1171G>C p.V391L Missense 11/12 - 1
14-70490044-G-T c.1171G>T p.V391L Missense 11/12 - 2
14-70490047-AA-GC c.1174_1175delinsGC p.K392A Missense 11/12 - 1
14-70490048-A-C c.1175A>C p.K392T Missense 11/12 - 1
14-70490048-A-T c.1175A>T p.K392M Missense 11/12 - 1
14-70490049-G-A c.1176G>A p.K392= Synonymous 11/12 - 1
14-70490056-G-A c.1183G>A p.A395T Missense 11/12 - 3
14-70490065-AA-GC c.1192_1193delinsGC p.K398A Missense 11/12 - 1
14-70490067-G-A c.1194G>A p.K398= Synonymous 11/12 - 3
14-70490067-G-C c.1194G>C p.K398N Missense 11/12 - 3
14-70490067-G-T c.1194G>T p.K398N Missense 11/12 - 4
14-70490068-AA-GC c.1195_1196delinsGC p.K399A Missense 11/12 - 1
14-70490074-G-C c.1201G>C p.A401P Missense 11/12 - 2
14-70490076-C-A c.1203C>A p.A401= Synonymous 11/12 - 1
14-70490077-CG-GC c.1204_1205delinsGC p.R402A Missense 11/12 - 1
14-70490077-CG-TA c.1204_1205delinsTA p.R402* Nonsense 11/12 - 1
14-70490078-G-T c.1205G>T p.R402L Missense 11/12 - 4
14-70490080-CG-GC c.1207_1208delinsGC p.R403A Missense 11/12 - 1
14-70490080-C-T c.1207C>T p.R403C Missense 11/12 - 2
14-70490081-G-A c.1208G>A p.R403H Missense 11/12 - 1
14-70490088-C-A c.1215C>A p.T405= Synonymous 11/12 - 1
14-70490088-C-G c.1215C>G p.T405= Synonymous 11/12 - 1
14-70490088-C-T c.1215C>T p.T405= Synonymous 11/12 - 1
14-70490089-G-A c.1216G>A p.D406N Missense 11/12 - 4
14-70490096-G-A c.1223G>A p.C408Y Missense 11/12 - 1
14-70490098-G-A c.1225G>A p.D409N Missense 11/12 - 1
14-70490099-A-T c.1226A>T p.D409V Missense 11/12 - 2
14-70490101-C-T c.1228C>T p.L410= Synonymous 11/12 - 2
14-70490103-G-A c.1230G>A p.L410= Synonymous 11/12 - 2
14-70490103-G-C c.1230G>C p.L410= Synonymous 11/12 - 2
14-70490103-G-T c.1230G>T p.L410= Synonymous 11/12 - 3
14-70490105-A-G c.1232A>G p.N411S Missense 11/12 - 1
14-70490110-G-A c.1237G>A p.D413N Missense 11/12 - 1
14-70490111-A-C c.1238A>C p.D413A Missense 11/12 - 1
14-70490114-A-G c.1241A>G p.K414R Missense 11/12 - 1
14-70490115-G-A c.1242G>A p.K414= Synonymous 11/12 - 2
14-70490116-G-A c.1243G>A p.V415I Missense 11/12 - 2
14-70490117-T-A c.1244T>A p.V415D Missense 11/12 - 1
14-70490118-C-A c.1245C>A p.V415= Synonymous 11/12 - 2
14-70490118-C-G c.1245C>G p.V415= Synonymous 11/12 - 1
14-70490118-C-T c.1245C>T p.V415= Synonymous 11/12 - 1
14-70490123-C-T c.1250C>T p.S417L Missense 11/12 - 2
14-70490130-T-A c.1257T>A p.P419= Synonymous 11/12 - 1
14-70490130-T-C c.1257T>C p.P419= Synonymous 11/12 - 1
14-70490130-T-G c.1257T>G p.P419= Synonymous 11/12 - 1
14-70490131-G-A c.1258G>A p.E420K Missense 11/12 - 1
14-70490134-C-T c.1261C>T p.L421= Synonymous 11/12 - 1
14-70490139-G-A c.1266G>A p.K422= Synonymous 11/12 - 3
14-70490143-T-G c.1270T>G p.C424G Missense 11/12 - 1
14-70490164-G-A c.1291G>A p.V431I Missense 11/12 - 2
14-70490164-G-T c.1291G>T p.V431L Missense 11/12 - 1
14-70490234-T-C c.1291+70T>C - IntronicSNV - 11/11 1
14-70490264-A-G c.1291+100A>G - IntronicSNV - 11/11 5
14-70490372-A-C c.1291+208A>C - IntronicSNV - 11/11 1
14-70495371-A-G c.1292-1588A>G - IntronicSNV - 11/11 1
14-70496867-C-T c.1292-92C>T - IntronicSNV - 11/11 7
14-70496959-T-G c.1292T>G p.V431G Missense 12/12 - 1
14-70496963-A-C c.1296A>C p.G432= Synonymous 12/12 - 1
14-70496963-A-G c.1296A>G p.G432= Synonymous 12/12 - 1
14-70496963-A-T c.1296A>T p.G432= Synonymous 12/12 - 1
14-70496965-G-A c.1298G>A p.R433H Missense 12/12 - 2
14-70496965-G-C c.1298G>C p.R433P Missense 12/12 - 1
14-70496965-GC-AA c.1298_1299delinsAA p.R433Q Missense 12/12 - 1
14-70496968-T-A c.1301T>A p.L434H Missense 12/12 - 2
14-70496969-C-A c.1302C>A p.L434= Synonymous 12/12 - 1
14-70496970-G-C c.1303G>C p.V435L Missense 12/12 - 1
14-70497055-A-G c.*80A>G - 3-UTRSNV 12/12 - 1
14-70497535-G-A c.*560G>A - 3-UTRSNV 12/12 - 2
14-70498139-T-G c.*1164T>G - 3-UTRSNV 12/12 - 1
14-70498141-G-A c.*1166G>A - 3-UTRSNV 12/12 - 1
14-70498353-G-A c.*1378G>A - 3-UTRSNV 12/12 - 3