ESD

ESD esterase D

Annotation transcript: NM_001984.2

309 unique variant annotations were identified in 239 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
13-47345557-A-C c.843T>G p.N281K Missense 10/10 - 1
13-47345557-A-T c.843T>A p.N281K Missense 10/10 - 1
13-47345566-T-C c.834A>G p.K278= Synonymous 10/10 - 1
13-47345569-A-C c.831T>G p.A277= Synonymous 10/10 - 1
13-47345569-A-G c.831T>C p.A277= Synonymous 10/10 - 1
13-47345569-A-T c.831T>A p.A277= Synonymous 10/10 - 1
13-47345571-C-T c.829G>A p.A277T Missense 10/10 - 1
13-47345574-G-A c.826C>T p.H276Y Missense 10/10 - 1
13-47345581-G-T c.819C>A p.I273= Synonymous 10/10 - 1
13-47345584-G-A c.816C>T p.H272= Synonymous 10/10 - 3
13-47345585-T-C c.815A>G p.H272R Missense 10/10 - 1
13-47345587-G-A c.813C>T p.D271= Synonymous 10/10 - 2
13-47345592-T-C c.808A>G p.T270A Missense 10/10 - 1
13-47345600-G-A c.800C>T p.T267I Missense 10/10 - 3
13-47345600-GT-CA c.799_800delinsTG p.T267C Missense 10/10 - 1
13-47345603-G-C c.797C>G p.A266G Missense 10/10 - 1
13-47345612-T-C c.788A>G p.Y263C Missense 10/10 - 1
13-47345614-G-A c.786C>T p.Y262= Synonymous 10/10 - 1
13-47345616-A-G c.784T>C p.Y262H Missense 10/10 - 1
13-47345618-C-T c.782G>A p.S261N Missense 10/10 - 2
13-47345628-A-G c.772T>C p.Y258H Missense 10/10 - 3
13-47345630-C-A c.770G>T p.G257V Missense 10/10 - 2
13-47345630-C-G c.770G>C p.G257A Missense 10/10 - 2
13-47345630-C-T c.770G>A p.G257D Missense 10/10 - 14
13-47345631-C-G c.769G>C p.G257R Missense 10/10 - 1
13-47346555-G-A c.769-924C>T - IntronicSNV - 9/9 1
13-47349865-A-C c.768+1726T>G - IntronicSNV - 9/9 1
13-47349943-G-A c.768+1648C>T - IntronicSNV - 9/9 1
13-47350064-T-TGA c.768+1525_768+1526dup - IntronicInsertion - 9/9 1
13-47350124-C-A c.768+1467G>T - IntronicSNV - 9/9 1
13-47350482-G-A c.768+1109C>T - IntronicSNV - 9/9 1
13-47351403-T-C c.768+188A>G - IntronicSNV - 9/9 2
13-47351506-T-A c.768+85A>T - IntronicSNV - 9/9 1
13-47351596-G-C c.763C>G p.Q255E Missense 9/10 - 1
13-47351597-C-T c.762G>A p.L254= Synonymous 9/10 - 1
13-47351598-A-G c.761T>C p.L254S Missense 9/10 - 1
13-47351601-C-A c.758G>T p.R253L Missense 9/10 - 2
13-47351601-C-G c.758G>C p.R253P Missense 9/10 - 1
13-47351601-C-T c.758G>A p.R253Q Missense 9/10 - 2
13-47351611-C-T c.748G>A p.V250I Missense 9/10 - 3
13-47351613-G-A c.746C>T p.P249L Missense 9/10 - 1
13-47351615-G-A c.744C>T p.I248= Synonymous 9/10 - 1
13-47351615-G-T c.744C>A p.I248= Synonymous 9/10 - 1
13-47351616-A-T c.743T>A p.I248N Missense 9/10 - 1
13-47351618-T-C c.741A>G p.K247= Synonymous 9/10 - 1
13-47351624-T-C c.735A>G p.E245= Synonymous 9/10 - 1
13-47351626-C-T c.733G>A p.E245K Missense 9/10 - 1
13-47351630-A-G c.729T>C p.C243= Synonymous 9/10 - 1
13-47351634-G-C c.725C>G p.A242G Missense 9/10 - 1
13-47351635-C-T c.724G>A p.A242T Missense 9/10 - 1
13-47351642-G-T c.717C>A p.F239L Missense 9/10 - 1
13-47351657-T-A c.702A>T p.L234F Missense 9/10 - 2
13-47351667-T-C c.692A>G p.D231G Missense 9/10 - 2
13-47351668-C-T c.691G>A p.D231N Missense 9/10 - 2
13-47351670-A-G c.689T>C p.L230S Missense 9/10 - 1
13-47351674-G-A c.685C>T p.L229F Missense 9/10 - 2
13-47351674-G-C c.685C>G p.L229V Missense 9/10 - 1
13-47351676-A-T c.683T>A p.F228Y Missense 9/10 - 2
13-47351677-A-T c.682T>A p.F228I Missense 9/10 - 1
13-47351678-C-A c.681G>T p.Q227H Missense 9/10 - 1
13-47351678-C-G c.681G>C p.Q227H Missense 9/10 - 1
13-47351680-G-C c.679C>G p.Q227E Missense 9/10 - 1
13-47351681-G-A c.678C>T p.D226= Synonymous 9/10 - 1
13-47351681-G-C c.678C>G p.D226E Missense 9/10 - 1
13-47351682-T-C c.677A>G p.D226G Missense 9/10 - 3
13-47351692-C-A c.667G>T p.G223W Missense 9/10 - 1
13-47351695-G-T c.664C>A p.Q222K Missense 9/10 - 1
13-47351704-G-C c.655C>G p.L219V Missense 9/10 - 1
13-47351709-T-C c.650A>G p.D217G Missense 9/10 - 2
13-47351710-C-T c.649G>A p.D217N Missense 9/10 - 2
13-47351717-GAGA-G c.640_642del p.S214del InFrameDeletion 9/10 - 1
13-47351718-G-A c.641C>T p.S214F Missense 9/10 - 1
13-47351718-G-C c.641C>G p.S214C Missense 9/10 - 1
13-47351719-A-C c.640T>G p.S214A Missense 9/10 - 4
13-47351721-C-A c.638G>T p.G213V Missense 9/10 - 3
13-47351726-A-AT c.632dup p.Y211* Nonsense 9/10 - 1
13-47351729-G-A c.630C>T p.S210= Synonymous 9/10 - 1
13-47351732-T-C c.627A>G p.K209= Synonymous 9/10 - 1
13-47351737-C-A c.622G>T p.V208L Missense 9/10 - 1
13-47351742-T-G c.617A>C p.H206P Missense 9/10 - 1
13-47351743-G-C c.616C>G p.H206D Missense 9/10 - 1
13-47351749-C-A c.610G>T p.A204S Missense 9/10 - 4
13-47351758-C-A c.601G>T p.A201S Missense 9/10 - 1
13-47354063-T-G c.600+7A>C - IntronicSNV - 8/9 1
13-47354070-C-T c.600G>A p.K200= Synonymous 8/10 - 2
13-47354076-T-C c.594A>G p.K198= Synonymous 8/10 - 1
13-47354084-G-C c.586C>G p.Q196E Missense 8/10 - 1
13-47354085-A-G c.585T>C p.D195= Synonymous 8/10 - 2
13-47354086-T-A c.584A>T p.D195V Missense 8/10 - 1
13-47354087-C-A c.583G>T p.D195Y Missense 8/10 - 4
13-47354090-T-C c.580A>G p.T194A Missense 8/10 - 1
13-47354090-T-G c.580A>C p.T194P Missense 8/10 - 1
13-47354091-T-A c.579A>T p.G193= Synonymous 8/10 - 1
13-47354091-T-C c.579A>G p.G193= Synonymous 8/10 - 1
13-47354091-T-G c.579A>C p.G193= Synonymous 8/10 - 1
13-47354092-C-G c.578G>C p.G193A Missense 8/10 - 1
13-47354100-T-A c.570A>T p.G190= Synonymous 8/10 - 2
13-47354100-T-C c.570A>G p.G190= Synonymous 8/10 - 3
13-47354100-T-G c.570A>C p.G190= Synonymous 8/10 - 2
13-47354101-C-A c.569G>T p.G190V Missense 8/10 - 1
13-47354101-C-G c.569G>C p.G190A Missense 8/10 - 7
13-47354101-C-T c.569G>A p.G190E Missense 8/10 - 33
13-47354106-A-T c.564T>A p.F188L Missense 8/10 - 1
13-47354107-A-G c.563T>C p.F188S Missense 8/10 - 1
13-47354111-C-T c.559G>A p.A187T Missense 8/10 - 1
13-47354114-T-G c.556A>C p.K186Q Missense 8/10 - 1
13-47354111-C-CT c.558dup p.A187Sfs*3 Frameshift 8/10 - 3
13-47354119-C-G c.551G>C p.G184A Missense 8/10 - 1
13-47354121-C-A c.549G>T p.W183C Missense 8/10 - 2
13-47354121-C-G c.549G>C p.W183C Missense 8/10 - 3
13-47354121-C-T c.549G>A p.W183* Nonsense 8/10 - 1
13-47354122-C-T c.548G>A p.W183* Nonsense 8/10 - 1
13-47354125-G-A c.545C>T p.P182L Missense 8/10 - 1
13-47354130-G-A c.540C>T p.L180= Synonymous 8/10 - 1
13-47354132-G-A c.538C>T p.L180F Missense 8/10 - 1
13-47354138-G-A c.532C>T p.P178S Missense 8/10 - 1
13-47354143-C-T c.527G>A p.C176Y Missense 8/10 - 1
13-47354149-G-A c.521C>T p.P174L Missense 8/10 - 1
13-47354151-A-C c.519T>G p.A173= Synonymous 8/10 - 1
13-47354151-A-G c.519T>C p.A173= Synonymous 8/10 - 2
13-47354151-A-T c.519T>A p.A173= Synonymous 8/10 - 1
13-47354159-C-G c.511G>C p.A171P Missense 8/10 - 8
13-47354164-ACAG-TTTA c.503_506delinsTAAA p.S168_V169delinsLK MultiAAMissense 8/10 - 1
13-47354167-G-A c.503C>T p.S168F Missense 8/10 - 1
13-47354168-A-C c.502T>G p.S168A Missense 8/10 - 1
13-47355524-A-G c.501+107T>C - IntronicSNV - 7/9 3
13-47355630-C-T c.501+1G>A - IntronicSNV - 7/9 1
13-47355640-T-A c.492A>T p.G164= Synonymous 7/10 - 1
13-47355640-T-C c.492A>G p.G164= Synonymous 7/10 - 1
13-47355640-T-G c.492A>C p.G164= Synonymous 7/10 - 1
13-47355644-G-T c.488C>A p.P163H Missense 7/10 - 1
13-47355656-G-A c.476C>T p.A159V Missense 7/10 - 1
13-47355658-A-G c.474T>C p.C158= Synonymous 7/10 - 1
13-47355664-C-A c.468G>T p.L156= Synonymous 7/10 - 1
13-47355666-AGAGC-A c.463_466del p.A155* Frameshift 7/10 - 1
13-47355668-G-C c.464C>G p.A155G Missense 7/10 - 1
13-47355670-TCC-ACA c.460_462delinsTGT p.G154C Missense 7/10 - 1
13-47355671-C-G c.461G>C p.G154A Missense 7/10 - 1
13-47355678-C-T c.454G>A p.G152S Missense 7/10 - 1
13-47355681-C-G c.451G>C p.G151R Missense 7/10 - 1
13-47355681-C-T c.451G>A p.G151R Missense 7/10 - 2
13-47355682-C-A c.450G>T p.M150I Missense 7/10 - 2
13-47355682-C-G c.450G>C p.M150I Missense 7/10 - 1
13-47355682-C-T c.450G>A p.M150I Missense 7/10 - 1
13-47355684-T-C c.448A>G p.M150V Missense 7/10 - 1
13-47355691-G-A c.441C>T p.G147= Synonymous 7/10 - 3
13-47355691-G-C c.441C>G p.G147= Synonymous 7/10 - 2
13-47355691-G-T c.441C>A p.G147= Synonymous 7/10 - 2
13-47355692-C-T c.440G>A p.G147D Missense 7/10 - 1
13-47355693-CA-C c.438del p.F146Lfs*11 Frameshift 7/10 - 3
13-47355699-T-C c.433A>G p.I145V Missense 7/10 - 3
13-47355701-G-A c.431C>T p.S144F Missense 7/10 - 1
13-47355710-T-C c.422A>G p.Q141R Missense 7/10 - 1
13-47355711-G-C c.421C>G p.Q141E Missense 7/10 - 1
13-47355713-G-A c.419C>T p.P140L Missense 7/10 - 2
13-47355715-A-G c.417T>C p.D139= Synonymous 7/10 - 1
13-47355718-C-T c.414G>A p.V138= Synonymous 7/10 - 2
13-47355723-G-A c.409C>T p.P137S Missense 7/10 - 5
13-47355725-A-T c.407T>A p.F136Y Missense 7/10 - 1
13-47355735-T-G c.397A>C p.N133H Missense 7/10 - 1
13-47356801-C-A c.381+1G>T - IntronicSNV - 6/9 1
13-47356804-C-A c.379G>T p.E127* Nonsense 6/10 - 1
13-47356805-C-A c.378G>T p.E126D Missense 6/10 - 1
13-47356811-G-A c.372C>T p.V124= Synonymous 6/10 - 1
13-47356811-G-C c.372C>G p.V124= Synonymous 6/10 - 1
13-47356811-G-T c.372C>A p.V124= Synonymous 6/10 - 1
13-47356812-A-C c.371T>G p.V124G Missense 6/10 - 1
13-47356812-A-G c.371T>C p.V124A Missense 6/10 - 1
13-47356820-G-C c.363C>G p.Y121* Nonsense 6/10 - 1
13-47356820-G-T c.363C>A p.Y121* Nonsense 6/10 - 1
13-47356821-T-G c.362A>C p.Y121S Missense 6/10 - 1
13-47356826-T-C c.357A>G p.R119= Synonymous 6/10 - 1
13-47356828-T-G c.355A>C p.R119= Synonymous 6/10 - 1
13-47356827-C-T c.356G>A p.R119K Missense 6/10 - 1
13-47356835-G-A c.348C>T p.T116= Synonymous 6/10 - 1
13-47356837-T-C c.346A>G p.T116A Missense 6/10 - 4
13-47356845-G-T c.338C>A p.P113H Missense 6/10 - 1
13-47356846-G-A c.337C>T p.P113S Missense 6/10 - 4
13-47356848-T-C c.335A>G p.D112G Missense 6/10 - 1
13-47356852-C-G c.331G>C p.E111Q Missense 6/10 - 1
13-47356852-C-T c.331G>A p.E111K Missense 6/10 - 1
13-47356854-GT-AG c.328_329delinsCT p.T110L Missense 6/10 - 1
13-47356859-A-G c.324T>C p.D108= Synonymous 6/10 - 1
13-47356860-T-A c.323A>T p.D108V Missense 6/10 - 1
13-47356861-C-T c.322G>A p.D108N Missense 6/10 - 3
13-47356874-A-C c.309T>G p.A103= Synonymous 6/10 - 1
13-47356874-A-G c.309T>C p.A103= Synonymous 6/10 - 1
13-47356874-A-T c.309T>A p.A103= Synonymous 6/10 - 1
13-47356877-AC-CT c.305_306delinsAG p.G102E Missense 6/10 - 1
13-47356881-G-C c.302C>G p.T101S Missense 6/10 - 1
13-47356882-T-A c.301A>T p.T101S Missense 6/10 - 1
13-47356882-T-C c.301A>G p.T101A Missense 6/10 - 1
13-47356887-A-G c.296T>C p.F99S Missense 6/10 - 1
13-47356891-C-G c.292G>C p.D98H Missense 6/10 - 3
13-47356891-C-T c.292G>A p.D98N Missense 6/10 - 1
13-47356896-C-T c.287G>A p.S96N Missense 6/10 - 1
13-47356896-CT-AG c.286_287inv p.S96L Missense 6/10 - 1
13-47356898-C-A c.285G>T p.E95D Missense 6/10 - 1
13-47356898-C-G c.285G>C p.E95D Missense 6/10 - 2
13-47356899-T-G c.284A>C p.E95A Missense 6/10 - 1
13-47356903-C-T c.280G>A p.D94N Missense 6/10 - 1
13-47356906-C-T c.277G>A p.E93K Missense 6/10 - 1
13-47356908-C-A c.275G>T p.G92V Missense 6/10 - 1
13-47356916-A-C c.267T>G p.N89K Missense 6/10 - 1
13-47356916-A-T c.267T>A p.N89K Missense 6/10 - 1
13-47356923-C-T c.260G>A p.G87D Missense 6/10 - 1
13-47358380-C-T c.256+7G>A - IntronicSNV - 5/9 1
13-47358383-T-C c.256+4A>G - IntronicSNV - 5/9 1
13-47358384-T-C c.256+3A>G - IntronicSNV - 5/9 1
13-47358387-G-A c.256C>T p.R86C Missense 5/10 - 1
13-47358396-T-C c.247A>G p.T83A Missense 5/10 - 1
13-47358398-T-A c.245A>T p.D82V Missense 5/10 - 1
13-47358407-A-T c.236T>A p.I79N Missense 5/10 - 1
13-47358419-C-A c.224G>T p.G75V Missense 5/10 - 1
13-47358421-A-C c.222T>G p.H74Q Missense 5/10 - 1
13-47358421-A-T c.222T>A p.H74Q Missense 5/10 - 1
13-47358422-TG-GC c.220_221delinsGC p.H74A Missense 5/10 - 1
13-47358424-T-C c.219A>G p.E73= Synonymous 5/10 - 1
13-47358430-A-C c.213T>G p.A71= Synonymous 5/10 - 2
13-47358430-A-G c.213T>C p.A71= Synonymous 5/10 - 2
13-47358430-A-T c.213T>A p.A71= Synonymous 5/10 - 2
13-47358431-G-A c.212C>T p.A71V Missense 5/10 - 1
13-47358440-T-C c.203A>G p.H68R Missense 5/10 - 1
13-47358446-C-A c.197G>T p.G66V Missense 5/10 - 1
13-47358450-A-T c.193T>A p.S65T Missense 5/10 - 1
13-47358451-T-C c.192A>G p.K64= Synonymous 5/10 - 1
13-47358457-T-C c.186A>G p.I62M Missense 5/10 - 1
13-47358466-T-A c.177A>T p.Q59H Missense 5/10 - 1
13-47358466-T-G c.177A>C p.Q59H Missense 5/10 - 1
13-47358472-TG-GT c.170_171delinsAC p.T57N Missense 5/10 - 1
13-47358476-CA-GC c.166_167delinsGC p.C56A Missense 5/10 - 1
13-47358476-CA-GT c.166_167delinsAC p.C56T Missense 5/10 - 1
13-47358482-A-G c.161T>C p.L54S Missense 5/10 - 1
13-47358540-T-C c.158-55A>G - IntronicSNV - 4/9 5
13-47361124-G-A c.157+32C>T - IntronicSNV - 4/9 1
13-47361124-G-T c.157+32C>A - IntronicSNV - 4/9 1
13-47361163-C-T c.150G>A p.W50* Nonsense 4/10 - 1
13-47361169-C-A c.144G>T p.L48= Synonymous 4/10 - 1
13-47361173-G-A c.140C>T p.A47V Missense 4/10 - 1
13-47361173-G-T c.140C>A p.A47E Missense 4/10 - 1
13-47361177-G-A c.136C>T p.P46S Missense 4/10 - 2
13-47361178-G-A c.135C>T p.C45= Synonymous 4/10 - 2
13-47361179-C-T c.134G>A p.C45Y Missense 4/10 - 1
13-47361181-C-CT c.131dup p.C45Vfs*47 Frameshift 4/10 - 1
13-47361185-C-A c.128G>T p.G43V Missense 4/10 - 1
13-47361186-C-G c.127G>C p.G43R Missense 4/10 - 1
13-47361186-C-T c.127G>A p.G43R Missense 4/10 - 1
13-47361193-T-A c.120A>T p.A40= Synonymous 4/10 - 1
13-47361193-T-C c.120A>G p.A40= Synonymous 4/10 - 1
13-47361193-T-G c.120A>C p.A40= Synonymous 4/10 - 1
13-47361194-G-C c.119C>G p.A40G Missense 4/10 - 1
13-47361200-GG-AT c.112_113delinsAT p.P38I Missense 4/10 - 1
13-47361201-G-C c.112C>G p.P38A Missense 4/10 - 3
13-47361203-G-A c.110C>T p.P37L Missense 4/10 - 1
13-47361207-A-C c.106T>G p.L36V Missense 4/10 - 3
13-47361212-A-T c.101T>A p.V34D Missense 4/10 - 1
13-47361215-G-C c.98C>G p.A33G Missense 4/10 - 1
13-47361215-GC-AA c.97_98delinsTT p.A33F Missense 4/10 - 1
13-47361217-A-G c.96T>C p.F32= Synonymous 4/10 - 1
13-47361220-T-C c.93A>G p.K31= Synonymous 4/10 - 3
13-47361221-TT-GC c.91_92delinsGC p.K31A Missense 4/10 - 1
13-47361223-C-T c.90G>A p.M30I Missense 4/10 - 1
13-47361224-A-T c.89T>A p.M30K Missense 4/10 - 2
13-47361227-TT-GC c.85_86delinsGC p.K29A Missense 4/10 - 1
13-47361230-C-G c.83G>C p.C28S Missense 4/10 - 1
13-47361233-T-C c.80A>G p.N27S Missense 4/10 - 1
13-47361237-G-C c.76C>G p.L26V Missense 4/10 - 1
13-47361239-T-C c.74A>G p.E25G Missense 4/10 - 1
13-47361240-C-T c.73G>A p.E25K Missense 4/10 - 1
13-47361243-C-T c.70G>A p.V24I Missense 4/10 - 1
13-47365059-G-A c.68+422C>T - IntronicSNV - 3/9 1
13-47365388-G-C c.68+93C>G - IntronicSNV - 3/9 1
13-47365388-G-T c.68+93C>A - IntronicSNV - 3/9 2
13-47365450-G-GT c.68+30dup - IntronicInsertion - 3/9 5
13-47365481-C-G c.68G>C p.S23T Missense 3/10 - 1
13-47365481-C-T c.68G>A p.S23N Missense 3/10 - 2
13-47365483-G-A c.66C>T p.D22= Synonymous 3/10 - 1
13-47365483-G-C c.66C>G p.D22E Missense 3/10 - 1
13-47365483-G-T c.66C>A p.D22E Missense 3/10 - 1
13-47365487-TG-CA c.61_62inv p.H21C Missense 3/10 - 1
13-47365490-T-C c.59A>G p.E20G Missense 3/10 - 1
13-47365491-C-T c.58G>A p.E20K Missense 3/10 - 2
13-47365493-A-G c.56T>C p.F19S Missense 3/10 - 1
13-47365491-CA-C c.57del p.F19Lfs*8 Frameshift 3/10 - 1
13-47365498-T-A c.51A>T p.K17N Missense 3/10 - 2
13-47365498-T-G c.51A>C p.K17N Missense 3/10 - 2
13-47365499-T-C c.50A>G p.K17R Missense 3/10 - 4
13-47365499-TT-GC c.49_50delinsGC p.K17A Missense 3/10 - 1
13-47365501-C-A c.48G>T p.Q16H Missense 3/10 - 1
13-47365501-C-G c.48G>C p.Q16H Missense 3/10 - 1
13-47365503-G-A c.46C>T p.Q16* Nonsense 3/10 - 3
13-47365508-C-T c.41G>A p.G14E Missense 3/10 - 1
13-47365509-C-G c.40G>C p.G14R Missense 3/10 - 1
13-47365509-C-T c.40G>A p.G14R Missense 3/10 - 1
13-47365510-CC-GT c.38_39delinsAC p.G13D Missense 3/10 - 1
13-47365511-C-T c.38G>A p.G13E Missense 3/10 - 1
13-47365513-AAA-CTT c.34_36delinsAAG p.F12K Missense 3/10 - 1
13-47365516-G-A c.33C>T p.C11= Synonymous 3/10 - 1
13-47365517-CA-GC c.31_32delinsGC p.C11A Missense 3/10 - 1
13-47365519-C-T c.30G>A p.K10= Synonymous 3/10 - 1
13-47365520-T-C c.29A>G p.K10R Missense 3/10 - 1
13-47365531-A-G c.18T>C p.I6= Synonymous 3/10 - 1
13-47365531-A-T c.18T>A p.I6= Synonymous 3/10 - 1
13-47365541-A-G c.8T>C p.L3S Missense 3/10 - 4
13-47365540-C-T c.9G>A p.L3= Synonymous 3/10 - 1
13-47365542-A-G c.7T>C p.L3= Synonymous 3/10 - 1
13-47365543-T-C c.6A>G p.A2= Synonymous 3/10 - 1
13-47365545-C-T c.4G>A p.A2T Missense 3/10 - 2
13-47365547-AT-A c.1del - CdsStartDeletion 3/10 - 1