SMTNL2

SMTNL2 smoothelin like 2

Annotation transcript: NM_001114974.2

460 unique variant annotations were identified in 242 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
17-4487906-G-T c.6G>T p.E2D Missense 1/8 - 1
17-4487910-G-A c.10G>A p.A4T Missense 1/8 - 1
17-4487915-C-A c.15C>A p.P5= Synonymous 1/8 - 1
17-4487915-C-G c.15C>G p.P5= Synonymous 1/8 - 1
17-4487915-C-T c.15C>T p.P5= Synonymous 1/8 - 1
17-4487921-C-T c.21C>T p.A7= Synonymous 1/8 - 1
17-4487928-G-A c.28G>A p.A10T Missense 1/8 - 1
17-4487928-GCG-TAT c.28_30delinsTAT p.A10Y Missense 1/8 - 1
17-4487928-G-T c.28G>T p.A10S Missense 1/8 - 2
17-4487937-G-A c.37G>A p.V13M Missense 1/8 - 1
17-4487941-G-A c.41G>A p.R14H Missense 1/8 - 1
17-4487941-G-T c.41G>T p.R14L Missense 1/8 - 1
17-4487943-G-A c.43G>A p.E15K Missense 1/8 - 1
17-4487943-G-C c.43G>C p.E15Q Missense 1/8 - 1
17-4487952-G-A c.52G>A p.G18S Missense 1/8 - 1
17-4487953-G-A c.53G>A p.G18D Missense 1/8 - 1
17-4487957-C-A c.57C>A p.R19= Synonymous 1/8 - 1
17-4487957-C-G c.57C>G p.R19= Synonymous 1/8 - 1
17-4487957-C-T c.57C>T p.R19= Synonymous 1/8 - 1
17-4487978-T-G c.78T>G p.G26= Synonymous 1/8 - 1
17-4487982-G-A c.82G>A p.V28M Missense 1/8 - 1
17-4487991-C-T c.91C>T p.L31= Synonymous 1/8 - 1
17-4487993-G-A c.93G>A p.L31= Synonymous 1/8 - 1
17-4487993-G-C c.93G>C p.L31= Synonymous 1/8 - 1
17-4487993-G-T c.93G>T p.L31= Synonymous 1/8 - 1
17-4488000-G-T c.100G>T p.D34Y Missense 1/8 - 1
17-4488002-C-A c.102C>A p.D34E Missense 1/8 - 1
17-4488005-G-A c.105G>A p.M35I Missense 1/8 - 3
17-4488005-G-C c.105G>C p.M35I Missense 1/8 - 4
17-4488005-G-T c.105G>T p.M35I Missense 1/8 - 3
17-4488006-C-G c.106C>G p.R36G Missense 1/8 - 1
17-4488006-C-T c.106C>T p.R36W Missense 1/8 - 1
17-4488006-C-CG c.111dup p.L38Afs*102 Frameshift 1/8 - 1
17-4488013-T-C c.113T>C p.L38P Missense 1/8 - 1
17-4488014-G-T c.114G>T p.L38= Synonymous 1/8 - 1
17-4488018-C-T c.118C>T p.R40C Missense 1/8 - 2
17-4488030-C-T c.130C>T p.R44W Missense 1/8 - 1
17-4488031-G-A c.131G>A p.R44Q Missense 1/8 - 1
17-4488039-GCA-TTT c.139_141delinsTTT p.A47F Missense 1/8 - 1
17-4488042-G-A c.142G>A p.E48K Missense 1/8 - 3
17-4488042-G-C c.142G>C p.E48Q Missense 1/8 - 1
17-4488054-C-G c.154C>G p.L52V Missense 1/8 - 1
17-4488059-C-A c.159C>A p.A53= Synonymous 1/8 - 2
17-4488059-C-G c.159C>G p.A53= Synonymous 1/8 - 1
17-4488059-C-T c.159C>T p.A53= Synonymous 1/8 - 1
17-4488062-C-T c.162C>T p.G54= Synonymous 1/8 - 1
17-4488064-C-T c.164C>T p.P55L Missense 1/8 - 1
17-4488073-G-A c.173G>A p.R58H Missense 1/8 - 1
17-4488092-G-A c.192G>A p.Q64= Synonymous 1/8 - 1
17-4488093-C-T c.193C>T p.R65W Missense 1/8 - 1
17-4488101-C-T c.201C>T p.N67= Synonymous 1/8 - 1
17-4488106-G-A c.206G>A p.R69Q Missense 1/8 - 1
17-4488119-G-A c.219G>A p.Q73= Synonymous 1/8 - 1
17-4488121-T-A c.221T>A p.L74H Missense 1/8 - 1
17-4488129-C-A c.229C>A p.L77M Missense 1/8 - 1
17-4488144-G-A c.244G>A p.E82K Missense 1/8 - 3
17-4488147-G-A c.247G>A p.A83T Missense 1/8 - 1
17-4488164-C-T c.264C>T p.S88= Synonymous 1/8 - 1
17-4488165-GGG-AGC c.265_267delinsAGC p.G89S Missense 1/8 - 1
17-4488166-G-A c.266G>A p.G89E Missense 1/8 - 1
17-4488175-C-G c.275C>G p.P92R Missense 1/8 - 1
17-4488180-C-T c.280C>T p.P94S Missense 1/8 - 1
17-4488185-C-A c.285C>A p.G95= Synonymous 1/8 - 1
17-4488185-C-G c.285C>G p.G95= Synonymous 1/8 - 1
17-4488185-C-T c.285C>T p.G95= Synonymous 1/8 - 1
17-4488192-G-C c.292G>C p.G98R Missense 1/8 - 1
17-4488203-C-A c.303C>A p.S101R Missense 1/8 - 1
17-4488214-C-CG c.315dup p.P106Afs*34 Frameshift 1/8 - 1
17-4488237-C-T c.337C>T p.P113S Missense 1/8 - 2
17-4488240-C-A c.340C>A p.R114S Missense 1/8 - 1
17-4488258-T-A c.358T>A p.F120I Missense 1/8 - 1
17-4488260-C-T c.360C>T p.F120= Synonymous 1/8 - 1
17-4488275-C-A c.375C>A p.T125= Synonymous 1/8 - 1
17-4488275-C-G c.375C>G p.T125= Synonymous 1/8 - 1
17-4488275-C-T c.375C>T p.T125= Synonymous 1/8 - 1
17-4488283-T-A c.383T>A p.L128Q Missense 1/8 - 1
17-4488295-G-A c.395G>A p.G132D Missense 1/8 - 2
17-4488296-C-A c.396C>A p.G132= Synonymous 1/8 - 1
17-4488296-C-G c.396C>G p.G132= Synonymous 1/8 - 1
17-4488296-C-T c.396C>T p.G132= Synonymous 1/8 - 1
17-4488304-G-T c.399+5G>T - IntronicSNV - 1/7 1
17-4488414-C-G c.399+115C>G - IntronicSNV - 1/7 1
17-4495658-T-C c.402T>C p.S134= Synonymous 2/8 - 1
17-4495660-T-C c.404T>C p.L135S Missense 2/8 - 1
17-4495662-G-A c.406G>A p.D136N Missense 2/8 - 1
17-4495663-A-G c.407A>G p.D136G Missense 2/8 - 2
17-4495666-A-G c.410A>G p.H137R Missense 2/8 - 1
17-4495668-G-A c.412G>A p.D138N Missense 2/8 - 1
17-4495671-G-A c.415G>A p.E139K Missense 2/8 - 1
17-4495674-G-A c.418G>A p.A140T Missense 2/8 - 2
17-4495679-T-C c.423T>C p.S141= Synonymous 2/8 - 1
17-4495682-G-A c.426G>A p.E142= Synonymous 2/8 - 6
17-4495684-C-T c.428C>T p.S143L Missense 2/8 - 2
17-4495685-G-A c.429G>A p.S143= Synonymous 2/8 - 2
17-4495685-G-C c.429G>C p.S143= Synonymous 2/8 - 2
17-4495685-G-T c.429G>T p.S143= Synonymous 2/8 - 2
17-4495697-G-C c.441G>C p.K147N Missense 2/8 - 1
17-4495697-G-T c.441G>T p.K147N Missense 2/8 - 1
17-4495708-C-T c.452C>T p.S151F Missense 2/8 - 1
17-4495709-C-A c.453C>A p.S151= Synonymous 2/8 - 1
17-4495717-T-C c.461T>C p.M154T Missense 2/8 - 1
17-4495718-G-A c.462G>A p.M154I Missense 2/8 - 2
17-4495728-C-T c.472C>T p.H158Y Missense 2/8 - 1
17-4495735-C-T c.479C>T p.P160L Missense 2/8 - 1
17-4495737-G-A c.481G>A p.G161R Missense 2/8 - 1
17-4495737-G-C c.481G>C p.G161R Missense 2/8 - 1
17-4495740-G-A c.484G>A p.A162T Missense 2/8 - 26
17-4495741-C-T c.485C>T p.A162V Missense 2/8 - 1
17-4495742-A-C c.486A>C p.A162= Synonymous 2/8 - 2
17-4495742-A-G c.486A>G p.A162= Synonymous 2/8 - 2
17-4495742-A-T c.486A>T p.A162= Synonymous 2/8 - 2
17-4495965-T-A c.487+222T>A - IntronicSNV - 2/7 1
17-4495996-C-A c.488-228C>A - IntronicSNV - 2/7 2
17-4495996-C-T c.488-228C>T - IntronicSNV - 2/7 2
17-4496226-C-T c.490C>T p.P164S Missense 3/8 - 2
17-4496231-C-A c.495C>A p.G165= Synonymous 3/8 - 1
17-4496231-C-G c.495C>G p.G165= Synonymous 3/8 - 1
17-4496231-C-T c.495C>T p.G165= Synonymous 3/8 - 1
17-4496232-G-A c.496G>A p.D166N Missense 3/8 - 4
17-4496234-T-G c.498T>G p.D166E Missense 3/8 - 1
17-4496236-G-A c.500G>A p.G167E Missense 3/8 - 4
17-4496239-C-G c.503C>G p.P168R Missense 3/8 - 2
17-4496241-C-T c.505C>T p.P169S Missense 3/8 - 1
17-4496243-T-G c.507T>G p.P169= Synonymous 3/8 - 2
17-4496244-G-A c.508G>A p.E170K Missense 3/8 - 2
17-4496251-C-G c.515C>G p.A172G Missense 3/8 - 1
17-4496254-A-G c.518A>G p.Q173R Missense 3/8 - 1
17-4496259-T-C c.523T>C p.F175L Missense 3/8 - 1
17-4496261-C-G c.525C>G p.F175L Missense 3/8 - 1
17-4496261-C-A c.525C>A p.F175L Missense 3/8 - 6
17-4496263-C-G c.527C>G p.S176* Nonsense 3/8 - 1
17-4496264-A-C c.528A>C p.S176= Synonymous 3/8 - 1
17-4496264-A-G c.528A>G p.S176= Synonymous 3/8 - 1
17-4496264-A-T c.528A>T p.S176= Synonymous 3/8 - 1
17-4496274-C-A c.538C>A p.P180T Missense 3/8 - 1
17-4496274-C-T c.538C>T p.P180S Missense 3/8 - 2
17-4496275-C-T c.539C>T p.P180L Missense 3/8 - 1
17-4496276-C-T c.540C>T p.P180= Synonymous 3/8 - 1
17-4496277-C-T c.541C>T p.P181S Missense 3/8 - 1
17-4496273-TC-T c.543del p.R182Gfs*5 Frameshift 3/8 - 1
17-4496281-G-T c.545G>T p.R182M Missense 3/8 - 1
17-4496284-C-T c.548C>T p.P183L Missense 3/8 - 2
17-4496286-C-T c.550C>T p.R184C Missense 3/8 - 4
17-4496287-G-A c.551G>A p.R184H Missense 3/8 - 2
17-4496293-T-C c.557T>C p.V186A Missense 3/8 - 2
17-4496301-TC-CT c.565_566delinsCT p.S189L Missense 3/8 - 1
17-4496303-C-T c.567C>T p.S189= Synonymous 3/8 - 2
17-4496308-G-A c.572G>A p.R191Q Missense 3/8 - 1
17-4496313-C-G c.577C>G p.P193A Missense 3/8 - 1
17-4496315-C-A c.579C>A p.P193= Synonymous 3/8 - 1
17-4496317-A-C c.581A>C p.H194P Missense 3/8 - 5
17-4496329-C-G c.593C>G p.T198R UnclassifiedSNV 3/8 - 1
17-4496329-C-T c.593C>T p.T198M Missense 3/8 - 1
17-4496330-G-A c.594G>A p.T198= Synonymous 3/8 - 2
17-4496330-G-T c.594G>T p.T198= Synonymous 3/8 - 1
17-4496331-G-C c.595G>C p.A199P Missense 3/8 - 1
17-4496337-A-C c.601A>C p.T201P Missense 3/8 - 1
17-4496340-C-T c.604C>T p.R202* Nonsense 3/8 - 1
17-4496341-G-A c.605G>A p.R202Q Missense 3/8 - 5
17-4496341-G-C c.605G>C p.R202P Missense 3/8 - 1
17-4496347-C-G c.611C>G p.S204C Missense 3/8 - 1
17-4496352-AGG-CAT c.616_618delinsCAT p.R206H Missense 3/8 - 1
17-4496352-AGG-TGT c.616_618delinsTGT p.R206C Missense 3/8 - 1
17-4496362-G-A c.626G>A p.G209E Missense 3/8 - 3
17-4496372-A-C c.636A>C p.S212= Synonymous 3/8 - 2
17-4496372-A-G c.636A>G p.S212= Synonymous 3/8 - 3
17-4496372-A-T c.636A>T p.S212= Synonymous 3/8 - 2
17-4496377-C-T c.641C>T p.A214V Missense 3/8 - 4
17-4496386-C-T c.650C>T p.S217L Missense 3/8 - 2
17-4496393-G-A c.657G>A p.M219I Missense 3/8 - 1
17-4496397-G-A c.661G>A p.A221T Missense 3/8 - 1
17-4496403-A-T c.667A>T p.T223S Missense 3/8 - 1
17-4496404-C-G c.668C>G p.T223S Missense 3/8 - 1
17-4496404-C-T c.668C>T p.T223I Missense 3/8 - 2
17-4496405-C-A c.669C>A p.T223= Synonymous 3/8 - 2
17-4496405-C-G c.669C>G p.T223= Synonymous 3/8 - 2
17-4496405-C-T c.669C>T p.T223= Synonymous 3/8 - 2
17-4496411-G-A c.675G>A p.G225= Synonymous 3/8 - 1
17-4496412-G-T c.676G>T p.G226C Missense 3/8 - 1
17-4496413-G-A c.677G>A p.G226D Missense 3/8 - 4
17-4496413-G-C c.677G>C p.G226A Missense 3/8 - 1
17-4496415-C-A c.679C>A p.L227I Missense 3/8 - 1
17-4496420-C-A c.684C>A p.N228K Missense 3/8 - 1
17-4496420-C-G c.684C>G p.N228K Missense 3/8 - 1
17-4496420-C-T c.684C>T p.N228= Synonymous 3/8 - 1
17-4496421-C-T c.685C>T p.P229S Missense 3/8 - 1
17-4496425-G-A c.689G>A p.S230N Missense 3/8 - 1
17-4496427-C-T c.691C>T p.P231S Missense 3/8 - 3
17-4496430-A-G c.694A>G p.S232G Missense 3/8 - 1
17-4496433-G-A c.697G>A p.E233K Missense 3/8 - 4
17-4496438-C-A c.702C>A p.V234= Synonymous 3/8 - 1
17-4496438-C-G c.702C>G p.V234= Synonymous 3/8 - 1
17-4496438-C-T c.702C>T p.V234= Synonymous 3/8 - 1
17-4496443-C-T c.707C>T p.T236M Missense 3/8 - 1
17-4496449-G-T c.713G>T p.W238L Missense 3/8 - 1
17-4496454-C-T c.718C>T p.P240S Missense 3/8 - 1
17-4496457-A-T c.721A>T p.S241C Missense 3/8 - 1
17-4496457-A-C c.721A>C p.S241R Missense 3/8 - 1
17-4496459-T-A c.723T>A p.S241R Missense 3/8 - 1
17-4496459-T-G c.723T>G p.S241R Missense 3/8 - 1
17-4496463-AG-TA c.727_728delinsTA p.S243Y Missense 3/8 - 1
17-4496463-A-C c.727A>C p.S243R Missense 3/8 - 1
17-4496465-C-A c.729C>A p.S243R Missense 3/8 - 1
17-4496465-C-G c.729C>G p.S243R Missense 3/8 - 1
17-4496466-G-A c.730G>A p.E244K Missense 3/8 - 2
17-4496467-G-T c.730+1G>T - IntronicSNV - 3/7 3
17-4496662-G-A c.730+196G>A - IntronicSNV - 3/7 1
17-4497084-G-A c.731-33G>A - IntronicSNV - 3/7 4
17-4497084-G-T c.731-33G>T - IntronicSNV - 3/7 4
17-4497118-G-C c.732G>C p.E244D Missense 4/8 - 2
17-4497118-G-T c.732G>T p.E244D Missense 4/8 - 1
17-4497121-G-C c.735G>C p.K245N Missense 4/8 - 3
17-4497121-G-T c.735G>T p.K245N Missense 4/8 - 6
17-4497129-C-T c.743C>T p.S248F Missense 4/8 - 2
17-4497133-C-T c.747C>T p.F249= Synonymous 4/8 - 2
17-4497135-C-T c.749C>T p.T250M Missense 4/8 - 1
17-4497136-G-A c.750G>A p.T250= Synonymous 4/8 - 1
17-4497137-T-A c.751T>A p.W251R Missense 4/8 - 3
17-4497137-T-C c.751T>C p.W251R Missense 4/8 - 8
17-4497144-T-G c.758T>G p.V253G Missense 4/8 - 1
17-4497153-C-G c.767C>G p.S256C Missense 4/8 - 1
17-4497156-G-T c.770G>T p.G257V Missense 4/8 - 2
17-4497160-T-A c.774T>A p.Y258* Nonsense 4/8 - 1
17-4497160-T-C c.774T>C p.Y258= Synonymous 4/8 - 21
17-4497164-G-A c.778G>A p.A260T Missense 4/8 - 1
17-4497169-G-A c.783G>A p.V261= Synonymous 4/8 - 1
17-4497177-G-A c.791G>A p.S264N Missense 4/8 - 1
17-4497178-C-T c.792C>T p.S264= Synonymous 4/8 - 1
17-4497182-C-T c.796C>T p.H266Y Missense 4/8 - 1
17-4497469-C-T c.806+277C>T - IntronicSNV - 4/7 1
17-4498443-A-C c.810A>C p.P270= Synonymous 5/8 - 1
17-4498443-A-G c.810A>G p.P270= Synonymous 5/8 - 1
17-4498443-A-T c.810A>T p.P270= Synonymous 5/8 - 1
17-4498446-G-T c.813G>T p.P271= Synonymous 5/8 - 1
17-4498448-T-A c.815T>A p.L272Q Missense 5/8 - 1
17-4498450-GTG-TTT c.817_819delinsTTT p.V273F Missense 5/8 - 1
17-4498459-C-A c.826C>A p.P276T Missense 5/8 - 2
17-4498466-C-T c.833C>T p.S278L Missense 5/8 - 1
17-4498470-C-A c.837C>A p.P279= Synonymous 5/8 - 1
17-4498470-C-G c.837C>G p.P279= Synonymous 5/8 - 1
17-4498470-C-T c.837C>T p.P279= Synonymous 5/8 - 1
17-4498476-C-T c.843C>T p.S281= Synonymous 5/8 - 1
17-4498477-C-A c.844C>A p.P282T Missense 5/8 - 2
17-4498478-C-T c.845C>T p.P282L Missense 5/8 - 2
17-4498479-CGCAGCCG-C c.846_852del p.P285* Frameshift 5/8 - 1
17-4498479-G-A c.846G>A p.P282= Synonymous 5/8 - 2
17-4498484-C-A c.851C>A p.P284Q Missense 5/8 - 1
17-4498485-G-C c.852G>C p.P284= Synonymous 5/8 - 1
17-4498499-A-C c.866A>C p.Q289P Missense 5/8 - 1
17-4498501-G-A c.868G>A p.V290I Missense 5/8 - 1
17-4498512-G-A c.879G>A p.Q293= Synonymous 5/8 - 4
17-4498513-G-A c.880G>A p.G294R Missense 5/8 - 1
17-4498513-G-C c.880G>C p.G294R Missense 5/8 - 1
17-4498514-G-C c.881G>C p.G294A Missense 5/8 - 1
17-4498522-C-T c.889C>T p.R297C Missense 5/8 - 1
17-4498523-G-A c.890G>A p.R297H Missense 5/8 - 4
17-4498538-G-A c.905G>A p.R302K Missense 5/8 - 3
17-4498547-CG-TC c.914_915delinsTC p.T305I Missense 5/8 - 1
17-4498547-C-T c.914C>T p.T305M Missense 5/8 - 2
17-4498550-T-G c.917T>G p.L306R Missense 5/8 - 1
17-4498553-C-A c.920C>A p.P307H Missense 5/8 - 1
17-4498553-C-T c.920C>T p.P307L Missense 5/8 - 1
17-4498554-C-A c.921C>A p.P307= Synonymous 5/8 - 1
17-4498554-C-G c.921C>G p.P307= Synonymous 5/8 - 1
17-4498554-C-T c.921C>T p.P307= Synonymous 5/8 - 2
17-4498555-C-T c.922C>T p.R308C Missense 5/8 - 2
17-4498556-G-A c.923G>A p.R308H Missense 5/8 - 2
17-4498562-C-T c.929C>T p.S310L Missense 5/8 - 3
17-4498563-G-A c.930G>A p.S310= Synonymous 5/8 - 1
17-4498564-G-A c.931G>A p.E311K Missense 5/8 - 3
17-4498568-C-T c.935C>T p.A312V Missense 5/8 - 1
17-4498569-G-A c.936G>A p.A312= Synonymous 5/8 - 1
17-4498570-C-A c.937C>A p.Q313K Missense 5/8 - 1
17-4498573-G-T c.940G>T p.A314S Missense 5/8 - 1
17-4498576-CGG-TGT c.943_945delinsTGT p.R315C Missense 5/8 - 1
17-4498577-G-A c.944G>A p.R315Q Missense 5/8 - 1
17-4498602-G-C c.969G>C p.E323D Missense 5/8 - 2
17-4498602-G-T c.969G>T p.E323D Missense 5/8 - 2
17-4498610-C-T c.977C>T p.T326M Missense 5/8 - 1
17-4498611-G-A c.978G>A p.T326= Synonymous 5/8 - 6
17-4498612-G-A c.979G>A p.A327T Missense 5/8 - 1
17-4498617-C-A c.984C>A p.A328= Synonymous 5/8 - 1
17-4498617-C-G c.984C>G p.A328= Synonymous 5/8 - 1
17-4498617-C-T c.984C>T p.A328= Synonymous 5/8 - 2
17-4498641-A-G c.989+19A>G - IntronicSNV - 5/7 3
17-4498656-C-A c.989+34C>A - IntronicSNV - 5/7 3
17-4498656-C-G c.989+34C>G - IntronicSNV - 5/7 5
17-4498682-C-G c.989+60C>G - IntronicSNV - 5/7 7
17-4499121-A-G c.989+499A>G - IntronicSNV - 5/7 2
17-4499121-A-T c.989+499A>T - IntronicSNV - 5/7 2
17-4499207-C-A c.989+585C>A - IntronicSNV - 5/7 1
17-4499207-C-T c.989+585C>T - IntronicSNV - 5/7 1
17-4500072-A-G c.990-83A>G - IntronicSNV - 5/7 4
17-4500155-G-A c.990G>A p.K330= Synonymous 6/8 - 1
17-4500156-GG-AA c.991_992delinsAA p.G331K Missense 6/8 - 2
17-4500158-G-A c.993G>A p.G331= Synonymous 6/8 - 1
17-4500158-G-C c.993G>C p.G331= Synonymous 6/8 - 1
17-4500158-G-T c.993G>T p.G331= Synonymous 6/8 - 1
17-4500160-A-T c.995A>T p.K332I Missense 6/8 - 1
17-4500176-C-A c.1011C>A p.A337= Synonymous 6/8 - 1
17-4500176-C-G c.1011C>G p.A337= Synonymous 6/8 - 1
17-4500176-C-T c.1011C>T p.A337= Synonymous 6/8 - 1
17-4500177-AG-CT c.1012_1013inv p.R338L Missense 6/8 - 1
17-4500178-G-T c.1013G>T p.R338M Missense 6/8 - 1
17-4500182-G-A c.1017G>A p.L339= Synonymous 6/8 - 2
17-4500187-G-A c.1022G>A p.R341Q Missense 6/8 - 1
17-4500190-C-T c.1025C>T p.S342L Missense 6/8 - 2
17-4500191-G-A c.1026G>A p.S342= Synonymous 6/8 - 2
17-4500197-C-T c.1032C>T p.S344= Synonymous 6/8 - 1
17-4500201-G-C c.1036G>C p.G346R Missense 6/8 - 1
17-4500203-C-A c.1038C>A p.G346= Synonymous 6/8 - 1
17-4500203-C-G c.1038C>G p.G346= Synonymous 6/8 - 1
17-4500203-C-T c.1038C>T p.G346= Synonymous 6/8 - 2
17-4500204-G-A c.1039G>A p.V347M Missense 6/8 - 1
17-4500206-G-A c.1041G>A p.V347= Synonymous 6/8 - 1
17-4500206-G-C c.1041G>C p.V347= Synonymous 6/8 - 1
17-4500206-G-T c.1041G>T p.V347= Synonymous 6/8 - 1
17-4500208-C-T c.1043C>T p.A348V Missense 6/8 - 2
17-4500219-AG-TT c.1054_1055delinsTT p.S352F Missense 6/8 - 1
17-4500239-C-A c.1074C>A p.L358= Synonymous 6/8 - 1
17-4500239-C-G c.1074C>G p.L358= Synonymous 6/8 - 1
17-4500239-C-T c.1074C>T p.L358= Synonymous 6/8 - 1
17-4500240-G-A c.1075G>A p.E359K Missense 6/8 - 3
17-4500244-G-A c.1079G>A p.W360* Nonsense 6/8 - 2
17-4500245-G-A c.1080G>A p.W360* Nonsense 6/8 - 2
17-4500259-C-T c.1094C>T p.T365M Missense 6/8 - 2
17-4500265-G-A c.1100G>A p.G367D Missense 6/8 - 1
17-4500270-C-T c.1105C>T p.Q369* Nonsense 6/8 - 1
17-4500304-C-T c.1107+32C>T - IntronicSNV - 6/7 7
17-4500469-C-T c.1110C>T p.H370= Synonymous 7/8 - 1
17-4500470-G-A c.1111G>A p.V371M Missense 7/8 - 2
17-4500472-G-A c.1113G>A p.V371= Synonymous 7/8 - 2
17-4500477-T-C c.1118T>C p.L373P Missense 7/8 - 1
17-4500481-G-A c.1122G>A p.Q374= Synonymous 7/8 - 1
17-4500484-C-T c.1125C>T p.N375= Synonymous 7/8 - 5
17-4500490-C-A c.1131C>A p.S377= Synonymous 7/8 - 1
17-4500490-C-G c.1131C>G p.S377= Synonymous 7/8 - 1
17-4500490-C-T c.1131C>T p.S377= Synonymous 7/8 - 1
17-4500492-C-G c.1133C>G p.S378C Missense 7/8 - 1
17-4500494-A-G c.1135A>G p.S379G Missense 7/8 - 1
17-4500496-C-G c.1137C>G p.S379R Missense 7/8 - 1
17-4500503-G-A c.1144G>A p.D382N Missense 7/8 - 3
17-4500504-A-G c.1145A>G p.D382G Missense 7/8 - 1
17-4500505-C-T c.1146C>T p.D382= Synonymous 7/8 - 1
17-4500506-G-A c.1147G>A p.G383S Missense 7/8 - 1
17-4500511-G-A c.1152G>A p.M384I Missense 7/8 - 1
17-4500511-G-C c.1152G>C p.M384I Missense 7/8 - 1
17-4500511-G-T c.1152G>T p.M384I Missense 7/8 - 1
17-4500512-G-T c.1153G>T p.A385S Missense 7/8 - 1
17-4500520-C-T c.1161C>T p.C387= Synonymous 7/8 - 3
17-4500531-A-C c.1172A>C p.H391P Missense 7/8 - 1
17-4500532-C-T c.1173C>T p.H391= Synonymous 7/8 - 1
17-4500534-C-G c.1175C>G p.S392C Missense 7/8 - 1
17-4500534-C-T c.1175C>T p.S392F Missense 7/8 - 4
17-4500538-C-T c.1179C>T p.F393= Synonymous 7/8 - 1
17-4500539-T-C c.1180T>C p.F394L Missense 7/8 - 1
17-4500541-C-A c.1182C>A p.F394L Missense 7/8 - 1
17-4500541-C-G c.1182C>G p.F394L Missense 7/8 - 1
17-4500542-C-T c.1183C>T p.P395S Missense 7/8 - 2
17-4500543-C-T c.1184C>T p.P395L Missense 7/8 - 1
17-4500545-G-A c.1186G>A p.D396N Missense 7/8 - 1
17-4500545-G-T c.1186G>T p.D396Y Missense 7/8 - 5
17-4500549-C-T c.1190C>T p.A397V Missense 7/8 - 2
17-4500552-T-C c.1193T>C p.F398S Missense 7/8 - 1
17-4500554-G-T c.1195G>T p.D399Y Missense 7/8 - 1
17-4500556-C-T c.1197C>T p.D399= Synonymous 7/8 - 1
17-4500559-C-T c.1200C>T p.Y400= Synonymous 7/8 - 1
17-4500565-C-T c.1206C>T p.S402= Synonymous 7/8 - 1
17-4500569-AG-TA c.1210_1211delinsTA p.S404Y Missense 7/8 - 1
17-4500571-C-T c.1212C>T p.S404= Synonymous 7/8 - 1
17-4500572-C-T c.1213C>T p.P405S Missense 7/8 - 1
17-4500575-A-G c.1216A>G p.T406A Missense 7/8 - 1
17-4500577-G-A c.1218G>A p.T406= Synonymous 7/8 - 1
17-4500579-A-C c.1220A>C p.Q407P Missense 7/8 - 3
17-4500580-G-C c.1221G>C p.Q407H Missense 7/8 - 1
17-4500580-G-T c.1221G>T p.Q407H Missense 7/8 - 1
17-4500584-CAGAAGAACTTCG-C c.1228_1239del p.K410_E413del InFrameDeletion 7/8 - 1
17-4500587-A-C c.1228A>C p.K410Q Missense 7/8 - 1
17-4500589-G-C c.1230G>C p.K410N Missense 7/8 - 4
17-4500589-G-T c.1230G>T p.K410N Missense 7/8 - 3
17-4500593-T-C c.1234T>C p.F412L Missense 7/8 - 1
17-4500595-C-A c.1236C>A p.F412L Missense 7/8 - 1
17-4500595-C-G c.1236C>G p.F412L Missense 7/8 - 1
17-4500594-T-G c.1235T>G p.F412C Missense 7/8 - 4
17-4500596-G-A c.1237G>A p.E413K Missense 7/8 - 1
17-4500597-A-G c.1238A>G p.E413G Missense 7/8 - 1
17-4500598-G-A c.1239G>A p.E413= Synonymous 7/8 - 1
17-4500609-C-A c.1250C>A p.T417N Missense 7/8 - 1
17-4500612-T-G c.1253T>G p.M418R Missense 7/8 - 1
17-4500615-C-T c.1256C>T p.A419V Missense 7/8 - 2
17-4500616-C-A c.1257C>A p.A419= Synonymous 7/8 - 1
17-4500616-C-G c.1257C>G p.A419= Synonymous 7/8 - 1
17-4500616-C-T c.1257C>T p.A419= Synonymous 7/8 - 1
17-4500617-G-A c.1258G>A p.E420K Missense 7/8 - 1
17-4500618-A-T c.1259A>T p.E420V Missense 7/8 - 1
17-4500700-G-A c.1259+82G>A - IntronicSNV - 7/7 1
17-4500700-G-T c.1259+82G>T - IntronicSNV - 7/7 1
17-4502083-T-A c.1259+1465T>A - IntronicSNV - 7/7 1
17-4502083-T-C c.1259+1465T>C - IntronicSNV - 7/7 1
17-4502245-G-A c.1259+1627G>A - IntronicSNV - 7/7 2
17-4502245-G-C c.1259+1627G>C - IntronicSNV - 7/7 1
17-4502310-T-G c.1259+1692T>G - IntronicSNV - 7/7 1
17-4502386-G-A c.1259+1768G>A - IntronicSNV - 7/7 1
17-4504026-C-T c.1259+3408C>T - IntronicSNV - 7/7 1
17-4507225-C-T c.1260-3431C>T - IntronicSNV - 7/7 1
17-4508141-T-C c.1260-2515T>C - IntronicSNV - 7/7 1
17-4510526-C-T c.1260-130C>T - IntronicSNV - 7/7 2
17-4510600-C-CT c.1260-55dup - IntronicInsertion - 7/7 5
17-4510656-G-C c.1260G>C p.E420D Missense 8/8 - 1
17-4510656-G-T c.1260G>T p.E420D Missense 8/8 - 1
17-4510674-G-A c.1278G>A p.E426= Synonymous 8/8 - 1
17-4510675-C-T c.1279C>T p.R427C Missense 8/8 - 1
17-4510676-G-A c.1280G>A p.R427H Missense 8/8 - 6
17-4510683-C-A c.1287C>A p.I429= Synonymous 8/8 - 1
17-4510683-C-T c.1287C>T p.I429= Synonymous 8/8 - 1
17-4510684-G-A c.1288G>A p.E430K Missense 8/8 - 5
17-4510690-G-A c.1294G>A p.E432K Missense 8/8 - 1
17-4510692-G-A c.1296G>A p.E432= Synonymous 8/8 - 1
17-4510695-C-T c.1299C>T p.D433= Synonymous 8/8 - 1
17-4510701-G-A c.1305G>A p.M435I Missense 8/8 - 1
17-4510701-G-C c.1305G>C p.M435I Missense 8/8 - 1
17-4510701-G-T c.1305G>T p.M435I Missense 8/8 - 1
17-4510708-G-A c.1312G>A p.G438S Missense 8/8 - 1
17-4510709-G-C c.1313G>C p.G438A Missense 8/8 - 1
17-4510711-C-A c.1315C>A p.R439S Missense 8/8 - 1
17-4510711-C-T c.1315C>T p.R439C Missense 8/8 - 2
17-4510712-G-A c.1316G>A p.R439H Missense 8/8 - 2
17-4510720-G-A c.1324G>A p.D442N Missense 8/8 - 1
17-4510724-CC-AA c.1328_1329delinsAA p.P443Q Missense 8/8 - 1
17-4510725-C-A c.1329C>A p.P443= Synonymous 8/8 - 1
17-4510725-C-G c.1329C>G p.P443= Synonymous 8/8 - 1
17-4510725-C-T c.1329C>T p.P443= Synonymous 8/8 - 1
17-4510726-A-G c.1330A>G p.M444V Missense 8/8 - 1
17-4510732-G-A c.1336G>A p.V446I Missense 8/8 - 1
17-4510737-C-T c.1341C>T p.F447= Synonymous 8/8 - 2
17-4510740-C-A c.1344C>A p.T448= Synonymous 8/8 - 1
17-4510740-C-G c.1344C>G p.T448= Synonymous 8/8 - 1
17-4510740-C-T c.1344C>T p.T448= Synonymous 8/8 - 1
17-4510743-C-T c.1347C>T p.Y449= Synonymous 8/8 - 2
17-4510744-G-A c.1348G>A p.V450I Missense 8/8 - 1
17-4510747-C-G c.1351C>G p.Q451E Missense 8/8 - 1
17-4510749-G-A c.1353G>A p.Q451= Synonymous 8/8 - 1
17-4510751-C-T c.1355C>T p.S452L Missense 8/8 - 1
17-4510756-GT-G c.1360del p.Y454Tfs*64 Frameshift 8/8 - 1
17-4510756-T-C c.1360T>C p.Y454H Missense 8/8 - 1
17-4510757-A-G c.1361A>G p.Y454C Missense 8/8 - 1
17-4510765-C-T c.1369C>T p.L457= Synonymous 8/8 - 1
17-4510767-G-A c.1371G>A p.L457= Synonymous 8/8 - 1
17-4510767-G-C c.1371G>C p.L457= Synonymous 8/8 - 1
17-4510767-G-T c.1371G>T p.L457= Synonymous 8/8 - 1
17-4510768-C-T c.1372C>T p.R458C Missense 8/8 - 2
17-4510769-G-A c.1373G>A p.R458H Missense 8/8 - 4
17-4510771-C-T c.1375C>T p.R459C Missense 8/8 - 1
17-4510772-G-A c.1376G>A p.R459H Missense 8/8 - 3
17-4510774-T-C c.1378T>C p.F460L Missense 8/8 - 1
17-4510776-C-A c.1380C>A p.F460L Missense 8/8 - 1
17-4510776-C-G c.1380C>G p.F460L Missense 8/8 - 2
17-4510776-C-T c.1380C>T p.F460= Synonymous 8/8 - 2
17-4510777-G-A c.1381G>A p.E461K Missense 8/8 - 4
17-4511163-G-T c.*381G>T - 3-UTRSNV 8/8 - 1