WARS2

WARS2 tryptophanyl tRNA synthetase 2, mitochondrial

Annotation transcript: NM_015836.4

478 unique variant annotations were identified in 331 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
1-119573860-T-C c.*1674A>G - 3-UTRSNV 6/6 - 1
1-119574074-G-C c.*1460C>G - 3-UTRSNV 6/6 - 4
1-119574074-G-T c.*1460C>A - 3-UTRSNV 6/6 - 4
1-119574289-G-A c.*1245C>T - 3-UTRSNV 6/6 - 3
1-119574453-C-A c.*1081G>T - 3-UTRSNV 6/6 - 1
1-119574453-C-T c.*1081G>A - 3-UTRSNV 6/6 - 1
1-119574537-G-A c.*997C>T - 3-UTRSNV 6/6 - 3
1-119574537-G-C c.*997C>G - 3-UTRSNV 6/6 - 3
1-119574537-G-T c.*997C>A - 3-UTRSNV 6/6 - 3
1-119574587-C-T c.*947G>A - 3-UTRSNV 6/6 - 13
1-119575170-C-A c.*364G>T - 3-UTRSNV 6/6 - 3
1-119575232-T-C c.*302A>G - 3-UTRSNV 6/6 - 4
1-119575297-C-G c.*237G>C - 3-UTRSNV 6/6 - 1
1-119575297-C-T c.*237G>A - 3-UTRSNV 6/6 - 1
1-119575487-C-T c.*47G>A - 3-UTRSNV 6/6 - 1
1-119575538-A-G c.1079T>C p.L360P Missense 6/6 - 1
1-119575545-C-T c.1072G>A p.G358S Missense 6/6 - 1
1-119575549-C-T c.1068G>A p.L356= Synonymous 6/6 - 2
1-119575553-T-G c.1064A>C p.K355T Missense 6/6 - 2
1-119575555-C-T c.1062G>A p.K354= Synonymous 6/6 - 1
1-119575560-C-T c.1057G>A p.V353M Missense 6/6 - 6
1-119575563-C-A c.1054G>T p.E352* Nonsense 6/6 - 3
1-119575563-C-T c.1054G>A p.E352K Missense 6/6 - 2
1-119575565-T-C c.1052A>G p.Q351R Missense 6/6 - 1
1-119575572-C-A c.1045G>T p.V349L Missense 6/6 - 2
1-119575572-C-G c.1045G>C p.V349L Missense 6/6 - 2
1-119575572-C-T c.1045G>A p.V349M Missense 6/6 - 3
1-119575575-T-C c.1042A>G p.T348A Missense 6/6 - 2
1-119575579-T-A c.1038A>T p.A346= Synonymous 6/6 - 1
1-119575579-T-C c.1038A>G p.A346= Synonymous 6/6 - 2
1-119575579-T-G c.1038A>C p.A346= Synonymous 6/6 - 1
1-119575582-T-C c.1035A>G p.L345= Synonymous 6/6 - 3
1-119575582-T-G c.1035A>C p.L345F Missense 6/6 - 1
1-119575584-A-G c.1033T>C p.L345= Synonymous 6/6 - 2
1-119575586-T-G c.1031A>C p.E344A Missense 6/6 - 2
1-119575587-C-A c.1030G>T p.E344* Nonsense 6/6 - 2
1-119575589-T-C c.1028A>G p.K343R Missense 6/6 - 4
1-119575590-T-A c.1027A>T p.K343* Nonsense 6/6 - 1
1-119575593-C-T c.1024G>A p.A342T Missense 6/6 - 1
1-119575595-T-C c.1022A>G p.K341R Missense 6/6 - 1
1-119575597-T-C c.1020A>G p.A340= Synonymous 6/6 - 3
1-119575597-T-G c.1020A>C p.A340= Synonymous 6/6 - 1
1-119575599-C-T c.1018G>A p.A340T Missense 6/6 - 1
1-119575604-C-T c.1013G>A p.G338E Missense 6/6 - 1
1-119575605-C-G c.1012G>C p.G338R Missense 6/6 - 2
1-119575605-C-T c.1012G>A p.G338R Missense 6/6 - 2
1-119575616-A-C c.1001T>G p.V334G Missense 6/6 - 1
1-119575618-C-T c.999G>A p.K333= Synonymous 6/6 - 1
1-119575620-T-C c.997A>G p.K333E Missense 6/6 - 1
1-119575622-T-A c.995A>T p.E332V Missense 6/6 - 2
1-119575623-C-G c.994G>C p.E332Q Missense 6/6 - 2
1-119575628-T-A c.989A>T p.H330L Missense 6/6 - 1
1-119575634-T-C c.983A>G p.K328R Missense 6/6 - 2
1-119575637-T-C c.980A>G p.D327G Missense 6/6 - 2
1-119575638-C-T c.979G>A p.D327N Missense 6/6 - 1
1-119575639-C-A c.978G>T p.L326= Synonymous 6/6 - 1
1-119575639-C-G c.978G>C p.L326= Synonymous 6/6 - 1
1-119575639-C-T c.978G>A p.L326= Synonymous 6/6 - 1
1-119575641-G-A c.976C>T p.L326= Synonymous 6/6 - 1
1-119575659-C-A c.958G>T p.E320* Nonsense 6/6 - 4
1-119575660-AC-TT c.956_957delinsAA p.R319Q Missense 6/6 - 1
1-119575661-C-A c.956G>T p.R319L Missense 6/6 - 1
1-119575661-C-T c.956G>A p.R319H Missense 6/6 - 4
1-119575662-G-A c.955C>T p.R319C Missense 6/6 - 1
1-119575668-T-C c.949A>G p.I317V Missense 6/6 - 1
1-119575670-G-C c.947C>G p.P316R Missense 6/6 - 3
1-119575670-G-T c.947C>A p.P316Q Missense 6/6 - 1
1-119575679-T-A c.938A>T p.K313M Missense 6/6 - 7
1-119575683-C-A c.934G>T p.E312* Nonsense 6/6 - 5
1-119575687-C-A c.930G>T p.V310= Synonymous 6/6 - 1
1-119575697-G-A c.920C>T p.A307V Missense 6/6 - 1
1-119575697-G-T c.920C>A p.A307E Missense 6/6 - 1
1-119575701-C-T c.916G>A p.V306M Missense 6/6 - 3
1-119575702-G-A c.915C>T p.A305= Synonymous 6/6 - 1
1-119575702-G-C c.915C>G p.A305= Synonymous 6/6 - 1
1-119575702-G-T c.915C>A p.A305= Synonymous 6/6 - 1
1-119575703-G-A c.914C>T p.A305V Missense 6/6 - 1
1-119575710-T-C c.907A>G p.K303E Missense 6/6 - 1
1-119575715-C-T c.902G>A p.R301H Missense 6/6 - 2
1-119575716-G-C c.901C>G p.R301G Missense 6/6 - 2
1-119575721-G-A c.896C>T p.T299I Missense 6/6 - 1
1-119575726-C-A c.891G>T p.M297I Missense 6/6 - 1
1-119575726-C-G c.891G>C p.M297I Missense 6/6 - 1
1-119575726-C-T c.891G>A p.M297I Missense 6/6 - 3
1-119575729-G-T c.888C>A p.G296= Synonymous 6/6 - 1
1-119575731-C-G c.886G>C p.G296R Missense 6/6 - 2
1-119575732-C-T c.885G>A p.A295= Synonymous 6/6 - 1
1-119575733-G-A c.884C>T p.A295V Missense 6/6 - 7
1-119575735-G-A c.882C>T p.S294= Synonymous 6/6 - 2
1-119575740-G-T c.877C>A p.R293S Missense 6/6 - 3
1-119575742-C-T c.875G>A p.R292H Missense 6/6 - 2
1-119575743-G-A c.874C>T p.R292C Missense 6/6 - 7
1-119575744-C-A c.873G>T p.V291= Synonymous 6/6 - 1
1-119575744-C-G c.873G>C p.V291= Synonymous 6/6 - 1
1-119575744-C-T c.873G>A p.V291= Synonymous 6/6 - 1
1-119575749-C-A c.868G>T p.V290L Missense 6/6 - 1
1-119575749-C-G c.868G>C p.V290L Missense 6/6 - 1
1-119575758-C-G c.859G>C p.V287L Missense 6/6 - 2
1-119575758-C-T c.859G>A p.V287M Missense 6/6 - 7
1-119575759-G-A c.858C>T p.S286= Synonymous 6/6 - 1
1-119575760-G-A c.857C>T p.S286F Missense 6/6 - 2
1-119575761-A-G c.856T>C p.S286P Missense 6/6 - 1
1-119575762-G-A c.855C>T p.L285= Synonymous 6/6 - 3
1-119575764-G-A c.853C>T p.L285F Missense 6/6 - 5
1-119575766-C-G c.851G>C p.G284A Missense 6/6 - 1
1-119575768-C-A c.849G>T p.T283= Synonymous 6/6 - 1
1-119575768-C-G c.849G>C p.T283= Synonymous 6/6 - 1
1-119575768-C-T c.849G>A p.T283= Synonymous 6/6 - 1
1-119575769-G-A c.848C>T p.T283M Missense 6/6 - 1
1-119575769-GT-CC c.847_848delinsGG p.T283G Missense 6/6 - 1
1-119575772-A-C c.845T>G p.V282G Missense 6/6 - 1
1-119575774-C-A c.843G>T p.A281= Synonymous 6/6 - 1
1-119575775-G-A c.842C>T p.A281V Missense 6/6 - 4
1-119575776-C-T c.841G>A p.A281T Missense 6/6 - 1
1-119575777-G-A c.840C>T p.A280= Synonymous 6/6 - 3
1-119575777-G-C c.840C>G p.A280= Synonymous 6/6 - 1
1-119575777-G-T c.840C>A p.A280= Synonymous 6/6 - 1
1-119575778-G-A c.839C>T p.A280V Missense 6/6 - 2
1-119575779-C-T c.838G>A p.A280T Missense 6/6 - 1
1-119575780-A-G c.837T>C p.H279= Synonymous 6/6 - 1
1-119575781-T-C c.836A>G p.H279R Missense 6/6 - 1
1-119575784-A-C c.833T>G p.V278G Missense 6/6 - 4
1-119575786-C-A c.831G>T p.A277= Synonymous 6/6 - 1
1-119575786-C-G c.831G>C p.A277= Synonymous 6/6 - 1
1-119575786-C-T c.831G>A p.A277= Synonymous 6/6 - 1
1-119575787-G-A c.830C>T p.A277V Missense 6/6 - 2
1-119575796-T-C c.821A>G p.N274S Missense 6/6 - 2
1-119575797-T-TA c.819_820insT p.N274* Nonsense 6/6 - 1
1-119575800-A-G c.817T>C p.S273P Missense 6/6 - 1
1-119575803-C-A c.814G>T p.V272L Missense 6/6 - 1
1-119575803-C-G c.814G>C p.V272L Missense 6/6 - 1
1-119575803-C-T c.814G>A p.V272M Missense 6/6 - 5
1-119575804-G-A c.813C>T p.G271= Synonymous 6/6 - 2
1-119575804-G-C c.813C>G p.G271= Synonymous 6/6 - 1
1-119575804-G-T c.813C>A p.G271= Synonymous 6/6 - 1
1-119575805-C-T c.812G>A p.G271D Missense 6/6 - 1
1-119575811-C-T c.806G>A p.R269H Missense 6/6 - 1
1-119575812-G-A c.805C>T p.R269C Missense 6/6 - 3
1-119575816-A-C c.801T>G p.A267= Synonymous 6/6 - 2
1-119575816-A-G c.801T>C p.A267= Synonymous 6/6 - 2
1-119575816-A-T c.801T>A p.A267= Synonymous 6/6 - 2
1-119575817-G-C c.800C>G p.A267G Missense 6/6 - 1
1-119575818-C-G c.799G>C p.A267P Missense 6/6 - 22
1-119575819-C-A c.798G>T p.P266= Synonymous 6/6 - 1
1-119575819-C-G c.798G>C p.P266= Synonymous 6/6 - 1
1-119575819-C-T c.798G>A p.P266= Synonymous 6/6 - 1
1-119575820-G-A c.797C>T p.P266L Missense 6/6 - 3
1-119575821-G-C c.796C>G p.P266A Missense 6/6 - 1
1-119575819-CG-C c.797del p.P266Rfs*10 Frameshift 6/6 - 1
1-119575822-G-T c.795C>A p.D265E Missense 6/6 - 1
1-119575824-C-A c.793G>T p.D265Y Missense 6/6 - 1
1-119575826-T-C c.791A>G p.Y264C Missense 6/6 - 1
1-119575827-A-G c.790T>C p.Y264H Missense 6/6 - 1
1-119575831-GAC-CAT c.784_786delinsATG p.V262M Missense 6/6 - 1
1-119575832-A-G c.785T>C p.V262A Missense 6/6 - 1
1-119575836-C-T c.781G>A p.E261K Missense 6/6 - 1
1-119575837-C-A c.780G>T p.S260= Synonymous 6/6 - 1
1-119575837-C-G c.780G>C p.S260= Synonymous 6/6 - 1
1-119575837-C-T c.780G>A p.S260= Synonymous 6/6 - 2
1-119575838-G-A c.779C>T p.S260L Missense 6/6 - 2
1-119575841-G-A c.776C>T p.T259I Missense 6/6 - 1
1-119575843-G-A c.774C>T p.F258= Synonymous 6/6 - 5
1-119575848-C-G c.769G>C p.D257H Missense 6/6 - 2
1-119575854-C-T c.763G>A p.V255M Missense 6/6 - 2
1-119575856-G-A c.761C>T p.A254V Missense 6/6 - 1
1-119575857-C-T c.760G>A p.A254T Missense 6/6 - 1
1-119575862-C-T c.755G>A p.R252H Missense 6/6 - 3
1-119575864-G-A c.753C>T p.F251= Synonymous 6/6 - 2
1-119575866-A-G c.751T>C p.F251L Missense 6/6 - 1
1-119575866-A-T c.751T>A p.F251I Missense 6/6 - 1
1-119575872-G-A c.745C>T p.Q249* Nonsense 6/6 - 1
1-119575873-C-T c.744G>A p.V248= Synonymous 6/6 - 1
1-119575875-C-A c.742G>T p.V248L Missense 6/6 - 1
1-119575875-C-G c.742G>C p.V248L Missense 6/6 - 1
1-119575876-T-A c.741A>T p.I247= Synonymous 6/6 - 1
1-119575879-C-A c.738G>T p.E246D Missense 6/6 - 1
1-119575881-C-A c.736G>T p.E246* Nonsense 6/6 - 1
1-119575886-G-A c.731C>T p.P244L Missense 6/6 - 1
1-119575887-G-C c.730C>G p.P244A Missense 6/6 - 1
1-119575893-C-A c.724G>T p.D242Y Missense 6/6 - 3
1-119575901-C-T c.716G>A p.R239Q Missense 6/6 - 2
1-119575900-T-A c.717A>T p.R239= Synonymous 6/6 - 1
1-119575900-T-C c.717A>G p.R239= Synonymous 6/6 - 1
1-119575900-T-G c.717A>C p.R239= Synonymous 6/6 - 1
1-119575902-G-A c.715C>T p.R239* Nonsense 6/6 - 4
1-119575902-G-T c.715C>A p.R239= Synonymous 6/6 - 1
1-119575905-C-T c.712G>A p.V238I Missense 6/6 - 4
1-119575906-G-A c.711C>T p.T237= Synonymous 6/6 - 1
1-119575907-G-T c.710C>A p.T237N Missense 6/6 - 1
1-119575912-C-G c.705G>C p.L235= Synonymous 6/6 - 1
1-119575913-A-C c.704T>G p.L235R Missense 6/6 - 3
1-119575922-G-T c.695C>A p.P232H Missense 6/6 - 1
1-119575923-G-T c.694C>A p.P232T Missense 6/6 - 3
1-119575924-G-T c.693C>A p.D231E Missense 6/6 - 1
1-119575933-C-A c.684G>T p.S228= Synonymous 6/6 - 2
1-119575933-C-G c.684G>C p.S228= Synonymous 6/6 - 2
1-119575933-C-T c.684G>A p.S228= Synonymous 6/6 - 3
1-119575934-G-C c.683C>G p.S228W Missense 6/6 - 3
1-119575934-G-T c.683C>A p.S228* Nonsense 6/6 - 3
1-119575935-A-G c.682T>C p.S228P Missense 6/6 - 1
1-119575938-T-C c.679A>G p.M227V Missense 6/6 - 3
1-119575949-G-A c.668C>T p.P223L Missense 6/6 - 6
1-119575949-GG-AA c.667_668delinsTT p.P223F Missense 6/6 - 3
1-119575949-G-T c.668C>A p.P223H Missense 6/6 - 1
1-119575954-AC-TT c.662_663delinsAA p.R221Q Missense 6/6 - 1
1-119575955-C-T c.662G>A p.R221H Missense 6/6 - 2
1-119575957-T-A c.660A>T p.L220= Synonymous 6/6 - 2
1-119575959-G-T c.658C>A p.L220I Missense 6/6 - 1
1-119575960-G-A c.657C>T p.S219= Synonymous 6/6 - 1
1-119575960-G-C c.657C>G p.S219= Synonymous 6/6 - 1
1-119575960-G-T c.657C>A p.S219= Synonymous 6/6 - 1
1-119575961-G-A c.656C>T p.S219F Missense 6/6 - 5
1-119575967-A-C c.650T>G p.V217G Missense 6/6 - 1
1-119575968-C-G c.649G>C p.V217L Missense 6/6 - 1
1-119575979-G-A c.638C>T p.S213F Missense 6/6 - 1
1-119575978-G-GGAATTGATTCTGTTTCCTTGGA c.638_639insTCCAAGGAAACAGAATCAATTC p.M214Pfs*16 SpliceAcceptorInsertion 6/6 - 1
1-119576008-A-G c.635-26T>C - IntronicSNV - 5/5 1
1-119576011-C-A c.635-29G>T - IntronicSNV - 5/5 1
1-119576011-C-T c.635-29G>A - IntronicSNV - 5/5 1
1-119576721-G-C c.631C>G p.L211V Missense 5/6 - 2
1-119576723-A-C c.629T>G p.I210S Missense 5/6 - 1
1-119576728-C-T c.624G>A p.E208= Synonymous 5/6 - 1
1-119576730-C-A c.622G>T p.E208* Nonsense 5/6 - 1
1-119576730-C-T c.622G>A p.E208K Missense 5/6 - 2
1-119576736-C-T c.616G>A p.V206M Missense 5/6 - 1
1-119576743-G-T c.609C>A p.F203L Missense 5/6 - 1
1-119576751-C-A c.601G>T p.G201W Missense 5/6 - 2
1-119576751-C-G c.601G>C p.G201R Missense 5/6 - 2
1-119576751-C-T c.601G>A p.G201R Missense 5/6 - 2
1-119576758-C-A c.594G>T p.K198N Missense 5/6 - 1
1-119576758-C-G c.594G>C p.K198N Missense 5/6 - 1
1-119576771-T-A c.581A>T p.Q194L Missense 5/6 - 2
1-119576783-T-C c.569A>G p.Q190R Missense 5/6 - 1
1-119576787-C-G c.565G>C p.V189L Missense 5/6 - 1
1-119576801-T-TATTGATTCTGTTTCCTTGGAGA c.550_551insTCTCCAAGGAAACAGAATCAAT p.Q184Lfs*46 Frameshift 5/6 - 1
1-119576804-A-G c.548T>C p.V183A Missense 5/6 - 1
1-119576809-A-G c.543T>C p.D181= Synonymous 5/6 - 1
1-119576811-C-A c.541G>T p.D181Y Missense 5/6 - 1
1-119576811-C-G c.541G>C p.D181H Missense 5/6 - 1
1-119576812-C-T c.540G>A p.E180= Synonymous 5/6 - 1
1-119576816-C-G c.536G>C p.G179A Missense 5/6 - 2
1-119576817-C-T c.535G>A p.G179R Missense 5/6 - 1
1-119576818-A-G c.534T>C p.V178= Synonymous 5/6 - 1
1-119576819-A-C c.533T>G p.V178G Missense 5/6 - 1
1-119576820-C-G c.532G>C p.V178L Missense 5/6 - 2
1-119576822-G-A c.530C>T p.P177L Missense 5/6 - 4
1-119576822-G-C c.530C>G p.P177R Missense 5/6 - 1
1-119576826-C-G c.526G>C p.V176L Missense 5/6 - 1
1-119576826-C-T c.526G>A p.V176I Missense 5/6 - 1
1-119576827-G-A c.525C>T p.H175= Synonymous 5/6 - 3
1-119576829-G-A c.523C>T p.H175Y Missense 5/6 - 1
1-119576833-G-A c.519C>T p.S173= Synonymous 5/6 - 1
1-119576833-G-C c.519C>G p.S173= Synonymous 5/6 - 1
1-119576833-G-T c.519C>A p.S173= Synonymous 5/6 - 1
1-119576834-G-A c.518C>T p.S173F Missense 5/6 - 5
1-119576834-GA-CC c.517_518delinsGG p.S173G Missense 5/6 - 1
1-119576834-G-C c.518C>G p.S173C Missense 5/6 - 1
1-119579276-A-C c.516-2440T>G - IntronicSNV - 4/5 1
1-119579276-A-G c.516-2440T>C - IntronicSNV - 4/5 1
1-119580841-G-T c.516-4005C>A - IntronicSNV - 4/5 1
1-119581610-C-T c.515+3277G>A - IntronicSNV - 4/5 1
1-119583650-G-C c.515+1237C>G - IntronicSNV - 4/5 1
1-119584660-A-G c.515+227T>C - IntronicSNV - 4/5 1
1-119584889-G-C c.513C>G p.Y171* Nonsense 4/6 - 2
1-119584889-G-T c.513C>A p.Y171* Nonsense 4/6 - 2
1-119584893-A-C c.509T>G p.L170W Missense 4/6 - 1
1-119584900-T-C c.502A>G p.I168V Missense 4/6 - 1
1-119584902-T-A c.500A>T p.D167V Missense 4/6 - 1
1-119584902-T-C c.500A>G p.D167G Missense 4/6 - 2
1-119584908-G-T c.494C>A p.A165E Missense 4/6 - 2
1-119584915-G-A c.487C>T p.L163F Missense 4/6 - 1
1-119584922-G-A c.480C>T p.Y160= Synonymous 4/6 - 1
1-119584927-T-G c.475A>C p.T159P Missense 4/6 - 1
1-119584928-G-A c.474C>T p.L158= Synonymous 4/6 - 2
1-119584928-G-C c.474C>G p.L158= Synonymous 4/6 - 1
1-119584935-C-T c.467G>A p.G156D Missense 4/6 - 1
1-119584941-G-A c.461C>T p.T154M Missense 4/6 - 2
1-119584944-C-T c.458G>A p.G153D Missense 4/6 - 2
1-119584948-C-A c.454G>T p.D152Y Missense 4/6 - 2
1-119584948-C-T c.454G>A p.D152N Missense 4/6 - 2
1-119584949-G-A c.453C>T p.H151= Synonymous 4/6 - 5
1-119584950-T-C c.452A>G p.H151R Missense 4/6 - 3
1-119584952-C-A c.450G>T p.K150N Missense 4/6 - 1
1-119584953-T-G c.449A>C p.K150T Missense 4/6 - 1
1-119584955-C-T c.447G>A p.Q149= Synonymous 4/6 - 1
1-119584961-GG-CA c.440_441delinsTG p.T147M Missense 4/6 - 1
1-119584963-T-C c.439A>G p.T147A Missense 4/6 - 3
1-119584965-GTCTT-G c.433_436del p.K145Lfs*43 Frameshift 4/6 - 1
1-119584967-C-A c.435G>T p.K145N Missense 4/6 - 1
1-119584967-C-G c.435G>C p.K145N Missense 4/6 - 1
1-119584970-T-A c.432A>T p.A144= Synonymous 4/6 - 1
1-119584970-T-C c.432A>G p.A144= Synonymous 4/6 - 1
1-119584970-T-G c.432A>C p.A144= Synonymous 4/6 - 1
1-119584971-G-C c.431C>G p.A144G Missense 4/6 - 1
1-119586392-G-C c.430-1420C>G - IntronicSNV - 3/5 1
1-119588038-T-C c.429+167A>G - IntronicSNV - 3/5 1
1-119588166-G-A c.429+39C>T - IntronicSNV - 3/5 1
1-119588203-A-G c.429+2T>C - IntronicSNV - 3/5 1
1-119588204-CCTT-C c.427_429del p.K143del InFrameDeletion 3/6 - 1
1-119588206-T-C c.428A>G p.K143R Missense 3/6 - 1
1-119588212-T-C c.422A>G p.Q141R Missense 3/6 - 1
1-119588226-T-C c.408A>G p.L136= Synonymous 3/6 - 1
1-119588228-A-G c.406T>C p.L136= Synonymous 3/6 - 1
1-119588230-C-A c.404G>T p.R135L Missense 3/6 - 2
1-119588230-C-G c.404G>C p.R135P Missense 3/6 - 1
1-119588230-C-T c.404G>A p.R135Q Missense 3/6 - 4
1-119588231-G-A c.403C>T p.R135* Nonsense 3/6 - 1
1-119588247-G-A c.387C>T p.C129= Synonymous 3/6 - 2
1-119588254-A-G c.380T>C p.L127P Missense 3/6 - 1
1-119588255-G-T c.379C>A p.L127I Missense 3/6 - 2
1-119588267-A-C c.367T>G p.L123V Missense 3/6 - 1
1-119588267-A-AT c.366dup p.L123Ifs*100 Frameshift 3/6 - 1
1-119588269-T-A c.365A>T p.Q122L Missense 3/6 - 1
1-119588285-C-A c.349G>T p.V117L Missense 3/6 - 4
1-119588285-C-G c.349G>C p.V117L Missense 3/6 - 3
1-119606759-G-C c.348+12214C>G - IntronicSNV - 2/5 1
1-119607540-C-T c.348+11433G>A - IntronicSNV - 2/5 2
1-119608732-T-C c.348+10241A>G - IntronicSNV - 2/5 2
1-119613429-A-T c.348+5544T>A - IntronicSNV - 2/5 1
1-119615888-T-A c.348+3085A>T - IntronicSNV - 2/5 1
1-119616278-A-G c.348+2695T>C - IntronicSNV - 2/5 1
1-119618885-C-T c.348+88G>A - IntronicSNV - 2/5 1
1-119618975-G-A c.346C>T p.Q116* Nonsense 2/6 - 1
1-119618975-G-C c.346C>G p.Q116E Missense 2/6 - 1
1-119618974-TGAGATTGTTGGAAAAGGATGCTTTTTTCCGGGTTTATGCCACAGGCAAGAAGAACAGCA-T c.288_346del p.A97Gfs*3 InFrameDeletion 2/6 - 2
1-119618976-A-C c.345T>G p.S115= Synonymous 2/6 - 1
1-119618977-G-A c.344C>T p.S115F Missense 2/6 - 2
1-119618979-T-A c.342A>T p.Q114H Missense 2/6 - 1
1-119618979-T-G c.342A>C p.Q114H Missense 2/6 - 1
1-119618984-G-A c.337C>T p.Q113* Nonsense 2/6 - 1
1-119618985-G-A c.336C>T p.F112= Synonymous 2/6 - 4
1-119618990-G-C c.331C>G p.L111V Missense 2/6 - 1
1-119618996-T-TA c.324_325insT p.S109* Nonsense 2/6 - 1
1-119618995-CTTT-C c.323_325del p.K108del InFrameDeletion 2/6 - 1
1-119618995-CT-C c.325del p.S109Afs*15 Frameshift 2/6 - 3
1-119619004-G-A c.317C>T p.P106L Missense 2/6 - 5
1-119619013-CC-GT c.307_308delinsAC p.G103T Missense 2/6 - 1
1-119619015-A-G c.306T>C p.C102= Synonymous 2/6 - 2
1-119619023-G-A c.298C>T p.L100F Missense 2/6 - 2
1-119619020-CAAG-C c.298_300del p.L100del InFrameDeletion 2/6 - 3
1-119619029-C-A c.292G>T p.V98F Missense 2/6 - 1
1-119619030-A-C c.291T>G p.A97= Synonymous 2/6 - 1
1-119619038-T-A c.283A>T p.M95L Missense 2/6 - 1
1-119619038-T-G c.283A>C p.M95L Missense 2/6 - 1
1-119619043-A-T c.278T>A p.L93Q Missense 2/6 - 1
1-119619052-T-C c.269A>G p.Q90R Missense 2/6 - 1
1-119619052-T-TATTGATTCTGTTTCCTTGGAGA c.268_269insTCTCCAAGGAAACAGAATCAAT p.Q90Lfs*37 Frameshift 2/6 - 1
1-119619053-G-A c.268C>T p.Q90* Nonsense 2/6 - 2
1-119619056-G-A c.265C>T p.R89W Missense 2/6 - 2
1-119619059-G-A c.262C>T p.L88F Missense 2/6 - 2
1-119619063-A-C c.258T>G p.A86= Synonymous 2/6 - 1
1-119619063-A-G c.258T>C p.A86= Synonymous 2/6 - 1
1-119619063-A-T c.258T>A p.A86= Synonymous 2/6 - 1
1-119619068-G-A c.253C>T p.P85S Missense 2/6 - 2
1-119619068-G-T c.253C>A p.P85T Missense 2/6 - 1
1-119619073-T-C c.248A>G p.Q83R Missense 2/6 - 1
1-119619074-G-A c.247C>T p.Q83* Nonsense 2/6 - 2
1-119619080-C-G c.241G>C p.V81L Missense 2/6 - 1
1-119619085-A-G c.236T>C p.I79T Missense 2/6 - 1
1-119619086-T-A c.235A>T p.I79F Missense 2/6 - 1
1-119619088-G-A c.233C>T p.S78F Missense 2/6 - 3
1-119619090-G-C c.231C>G p.H77Q Missense 2/6 - 2
1-119619090-G-T c.231C>A p.H77Q Missense 2/6 - 1
1-119619092-G-A c.229C>T p.H77Y Missense 2/6 - 1
1-119619093-G-A c.228C>T p.L76= Synonymous 2/6 - 4
1-119619093-G-C c.228C>G p.L76= Synonymous 2/6 - 1
1-119619093-G-T c.228C>A p.L76= Synonymous 2/6 - 1
1-119619097-T-C c.224A>G p.D75G Missense 2/6 - 2
1-119619098-C-A c.223G>T p.D75Y Missense 2/6 - 1
1-119619100-A-T c.221T>A p.V74D Missense 2/6 - 1
1-119619106-C-T c.215G>A p.S72N Missense 2/6 - 1
1-119619116-C-A c.205G>T p.V69L Missense 2/6 - 1
1-119619117-A-T c.204T>A p.S68= Synonymous 2/6 - 1
1-119619118-G-A c.203C>T p.S68F Missense 2/6 - 2
1-119619122-C-G c.199G>C p.D67H Missense 2/6 - 2
1-119619129-A-C c.192T>G p.D64E Missense 2/6 - 3
1-119619129-A-G c.192T>C p.D64= Synonymous 2/6 - 2
1-119619133-T-C c.188A>G p.Q63R Missense 2/6 - 1
1-119619138-C-A c.183G>T p.R61S Missense 2/6 - 1
1-119619141-C-T c.180G>A p.V60= Synonymous 2/6 - 1
1-119619152-C-A c.169G>T p.E57* Nonsense 2/6 - 1
1-119619152-C-G c.169G>C p.E57Q Missense 2/6 - 2
1-119619152-C-T c.169G>A p.E57K Missense 2/6 - 1
1-119619156-G-A c.165C>T p.A55= Synonymous 2/6 - 1
1-119619156-G-C c.165C>G p.A55= Synonymous 2/6 - 1
1-119619156-G-T c.165C>A p.A55= Synonymous 2/6 - 1
1-119619157-GC-CG c.163_164delinsCG p.A55R Missense 2/6 - 2
1-119619160-C-T c.161G>A p.G54E Missense 2/6 - 3
1-119619162-CAG-AAA c.157_159delinsTTT p.L53F Missense 2/6 - 1
1-119619166-T-C c.155A>G p.Y52C Missense 2/6 - 1
1-119619171-G-T c.150C>A p.G50= Synonymous 2/6 - 2
1-119619172-C-T c.149G>A p.G50D Missense 2/6 - 3
1-119619173-C-A c.148G>T p.G50C Missense 2/6 - 1
1-119619173-C-T c.148G>A p.G50S Missense 2/6 - 2
1-119619178-T-C c.143A>G p.H48R Missense 2/6 - 1
1-119619180-G-A c.141C>T p.L47= Synonymous 2/6 - 2
1-119619180-G-C c.141C>G p.L47= Synonymous 2/6 - 2
1-119619180-G-T c.141C>A p.L47= Synonymous 2/6 - 3
1-119619183-G-A c.138C>T p.I46= Synonymous 2/6 - 3
1-119619185-T-C c.136A>G p.I46V Missense 2/6 - 4
1-119619187-C-A c.134G>T p.G45V Missense 2/6 - 2
1-119619188-C-A c.133G>T p.G45* Nonsense 2/6 - 1
1-119619197-G-T c.124C>A p.Q42K Missense 2/6 - 4
1-119619202-C-T c.119G>A p.G40D Missense 2/6 - 1
1-119619205-G-A c.116C>T p.S39F Missense 2/6 - 4
1-119619208-A-G c.113T>C p.F38S Missense 2/6 - 1
1-119619209-A-C c.112T>G p.F38V Missense 2/6 - 1
1-119619214-C-A c.107G>T p.R36L Missense 2/6 - 1
1-119619217-T-A c.104A>T p.K35M Missense 2/6 - 1
1-119619219-C-A c.102G>T p.K34N Missense 2/6 - 1
1-119619448-G-T c.91-218C>A - IntronicSNV - 1/5 2
1-119624996-C-G c.91-5766G>C - IntronicSNV - 1/5 1
1-119627227-C-T c.91-7997G>A - IntronicSNV - 1/5 2
1-119627679-C-T c.91-8449G>A - IntronicSNV - 1/5 1
1-119627856-C-A c.91-8626G>T - IntronicSNV - 1/5 1
1-119627856-C-T c.91-8626G>A - IntronicSNV - 1/5 1
1-119631174-T-C c.91-11944A>G - IntronicSNV - 1/5 1
1-119632855-C-T c.91-13625G>A - IntronicSNV - 1/5 1
1-119635723-T-C c.91-16493A>G - IntronicSNV - 1/5 1
1-119638553-G-A c.91-19323C>T - IntronicSNV - 1/5 1
1-119638553-G-C c.91-19323C>G - IntronicSNV - 1/5 1
1-119643820-T-C c.91-24590A>G - IntronicSNV - 1/5 1
1-119646694-A-G c.91-27464T>C - IntronicSNV - 1/5 1
1-119646694-A-T c.91-27464T>A - IntronicSNV - 1/5 1
1-119652420-CT-C c.90+30757del - IntronicDeletion - 1/5 1
1-119652514-C-A c.90+30664G>T - IntronicSNV - 1/5 1
1-119656867-G-A c.90+26311C>T - IntronicSNV - 1/5 1
1-119657881-A-G c.90+25297T>C - IntronicSNV - 1/5 1
1-119657989-G-A c.90+25189C>T - IntronicSNV - 1/5 1
1-119664420-A-T c.90+18758T>A - IntronicSNV - 1/5 1
1-119669266-G-C c.90+13912C>G - IntronicSNV - 1/5 1
1-119669271-A-G c.90+13907T>C - IntronicSNV - 1/5 1
1-119669271-A-T c.90+13907T>A - IntronicSNV - 1/5 1
1-119669506-G-A c.90+13672C>T - IntronicSNV - 1/5 1
1-119673331-AT-A c.90+9846del - IntronicDeletion - 1/5 1
1-119673470-G-A c.90+9708C>T - IntronicSNV - 1/5 1
1-119674088-G-T c.90+9090C>A - IntronicSNV - 1/5 1
1-119678373-A-AT c.90+4804dup - IntronicInsertion - 1/5 2
1-119678374-T-C c.90+4804A>G - IntronicSNV - 1/5 2
1-119678374-T-G c.90+4804A>C - IntronicSNV - 1/5 2
1-119679587-G-A c.90+3591C>T - IntronicSNV - 1/5 1
1-119682370-T-C c.90+808A>G - IntronicSNV - 1/5 1
1-119682943-G-C c.90+235C>G - IntronicSNV - 1/5 1
1-119683007-GC-G c.90+171del - IntronicDeletion - 1/5 1
1-119683063-G-A c.90+115C>T - IntronicSNV - 1/5 5
1-119683180-G-A c.88C>T p.Q30* Nonsense 1/6 - 2
1-119683180-G-T c.88C>A p.Q30K Missense 1/6 - 1
1-119683186-C-T c.82G>A p.A28T Missense 1/6 - 1
1-119683189-G-T c.79C>A p.P27T Missense 1/6 - 1
1-119683190-AGC-CCA c.76_78delinsTGG p.A26W Missense 1/6 - 1
1-119683191-G-A c.77C>T p.A26V Missense 1/6 - 1
1-119683191-G-C c.77C>G p.A26G Missense 1/6 - 1
1-119683191-GC-AT c.76_77delinsAT p.A26I Missense 1/6 - 1
1-119683191-GC-TA c.76_77delinsTA p.A26Y Missense 1/6 - 1
1-119683194-G-T c.74C>A p.A25D Missense 1/6 - 1
1-119683197-G-C c.71C>G p.A24G Missense 1/6 - 1
1-119683210-G-T c.58C>A p.H20N Missense 1/6 - 1
1-119683211-A-C c.57T>G p.L19= Synonymous 1/6 - 2
1-119683211-A-G c.57T>C p.L19= Synonymous 1/6 - 2
1-119683211-A-T c.57T>A p.L19= Synonymous 1/6 - 2
1-119683215-G-A c.53C>T p.A18V Missense 1/6 - 1
1-119683215-G-T c.53C>A p.A18E Missense 1/6 - 2
1-119683216-C-T c.52G>A p.A18T Missense 1/6 - 4
1-119683223-G-A c.45C>T p.F15= Synonymous 1/6 - 2
1-119683231-A-C c.37T>G p.W13G Missense 1/6 - 18
1-119683231-A-G c.37T>C p.W13R Missense 1/6 - 1
1-119683231-A-T c.37T>A p.W13R Missense 1/6 - 1
1-119683233-C-G c.35G>C p.R12P Missense 1/6 - 1
1-119683235-C-A c.33G>T p.E11D Missense 1/6 - 1
1-119683237-C-A c.31G>T p.E11* Nonsense 1/6 - 6
1-119683247-C-T c.21G>A p.R7= Synonymous 1/6 - 2
1-119683248-C-T c.20G>A p.R7Q Missense 1/6 - 1
1-119683249-G-A c.19C>T p.R7W Missense 1/6 - 1
1-119683250-C-T c.18G>A p.M6I Missense 1/6 - 1
1-119683254-G-A c.14C>T p.S5L Missense 1/6 - 1
1-119683254-G-C c.14C>G p.S5* Nonsense 1/6 - 1
1-119683255-A-G c.13T>C p.S5P Missense 1/6 - 2
1-119683258-G-A c.10C>T p.H4Y Missense 1/6 - 1