UGT2B10

UGT2B10 UDP glucuronosyltransferase family 2 member B10

Annotation transcript: NM_001075.6

640 unique variant annotations were identified in 264 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
4-69681747-A-C c.10A>C p.K4Q Missense 1/6 - 1
4-69681748-A-C c.11A>C p.K4T Missense 1/6 - 2
4-69681749-A-G c.12A>G p.K4= Synonymous 1/6 - 1
4-69681758-A-G c.21A>G p.T7= Synonymous 1/6 - 1
4-69681765-C-T c.28C>T p.L10= Synonymous 1/6 - 1
4-69681767-G-A c.30G>A p.L10= Synonymous 1/6 - 2
4-69681767-G-C c.30G>C p.L10= Synonymous 1/6 - 1
4-69681767-G-T c.30G>T p.L10= Synonymous 1/6 - 1
4-69681773-A-C c.36A>C p.Q12H Missense 1/6 - 1
4-69681773-A-T c.36A>T p.Q12H Missense 1/6 - 1
4-69681781-T-G c.44T>G p.F15C Missense 1/6 - 1
4-69681783-T-A c.46T>A p.Y16N Missense 1/6 - 1
4-69681793-C-A c.56C>A p.S19Y Missense 1/6 - 1
4-69681793-C-T c.56C>T p.S19F Missense 1/6 - 5
4-69681801-TGT-GAG c.64_66delinsGAG p.C22E Missense 1/6 - 1
4-69681805-G-A c.68G>A p.G23E Missense 1/6 - 6
4-69681818-A-G c.81A>G p.V27= Synonymous 1/6 - 1
4-69681820-G-A c.83G>A p.W28* Nonsense 1/6 - 1
4-69681820-G-T c.83G>T p.W28L Missense 1/6 - 1
4-69681822-G-A c.85G>A p.A29T Missense 1/6 - 1
4-69681822-GCC-ATG c.85_87delinsATG p.A29M Missense 1/6 - 4
4-69681823-C-A c.86C>A p.A29D Missense 1/6 - 3
4-69681823-CC-AG c.86_87delinsAG p.A29E Missense 1/6 - 2
4-69681823-C-G c.86C>G p.A29G Missense 1/6 - 1
4-69681823-C-T c.86C>T p.A29V Missense 1/6 - 3
4-69681828-G-C c.91G>C p.E31Q Missense 1/6 - 1
4-69681828-G-T c.91G>T p.E31* Nonsense 1/6 - 1
4-69681835-G-A c.98G>A p.S33N Missense 1/6 - 2
4-69681841-G-A c.104G>A p.W35* Nonsense 1/6 - 6
4-69681841-G-T c.104G>T p.W35L Missense 1/6 - 3
4-69681842-G-A c.105G>A p.W35* Nonsense 1/6 - 8
4-69681845-G-A c.108G>A p.M36I Missense 1/6 - 2
4-69681845-G-T c.108G>T p.M36I Missense 1/6 - 1
4-69681847-A-C c.110A>C p.N37T Missense 1/6 - 1
4-69681847-A-G c.110A>G p.N37S Missense 1/6 - 1
4-69681848-T-C c.111T>C p.N37= Synonymous 1/6 - 7
4-69681849-A-G c.112A>G p.M38V Missense 1/6 - 2
4-69681851-G-A c.114G>A p.M38I Missense 1/6 - 4
4-69681852-A-G c.115A>G p.K39E Missense 1/6 - 1
4-69681854-G-A c.117G>A p.K39= Synonymous 1/6 - 1
4-69681860-C-T c.123C>T p.I41= Synonymous 1/6 - 3
4-69681861-C-T c.124C>T p.L42= Synonymous 1/6 - 3
4-69681863-G-T c.126G>T p.L42= Synonymous 1/6 - 1
4-69681867-G-A c.130G>A p.E44K Missense 1/6 - 3
4-69681867-G-T c.130G>T p.E44* Nonsense 1/6 - 1
4-69681869-A-G c.132A>G p.E44= Synonymous 1/6 - 3
4-69681879-A-C c.142A>C p.R48= Synonymous 1/6 - 1
4-69681880-G-T c.143G>T p.R48I Missense 1/6 - 1
4-69681885-C-A c.148C>A p.H50N Missense 1/6 - 1
4-69681886-A-C c.149A>C p.H50P Missense 1/6 - 5
4-69681890-G-A c.153G>A p.E51= Synonymous 1/6 - 2
4-69681890-G-T c.153G>T p.E51D Missense 1/6 - 1
4-69681891-G-A c.154G>A p.V52M Missense 1/6 - 1
4-69681892-T-A c.155T>A p.V52E Missense 1/6 - 1
4-69681903-G-A c.166G>A p.A56T Missense 1/6 - 1
4-69681903-GCA-TGT c.166_168delinsTGT p.A56C Missense 1/6 - 1
4-69681904-C-T c.167C>T p.A56V Missense 1/6 - 2
4-69681907-C-T c.170C>T p.S57F Missense 1/6 - 1
4-69681910-C-T c.173C>T p.S58L Missense 1/6 - 1
4-69681915-TTCC-T c.178_180del p.S60del InFrameDeletion 1/6 - 1
4-69681916-C-T c.179C>T p.S60F Missense 1/6 - 1
4-69681921-C-A c.184C>A p.L62I Missense 1/6 - 6
4-69681927-G-C c.190G>C p.D64H Missense 1/6 - 4
4-69681930-C-T c.193C>T p.P65S Missense 1/6 - 5
4-69681935-C-T c.198C>T p.N66= Synonymous 1/6 - 2
4-69681936-G-A c.199G>A p.D67N Missense 1/6 - 16
4-69681936-G-T c.199G>T p.D67Y Missense 1/6 - 41
4-69681942-T-A c.205T>A p.S69T Missense 1/6 - 2
4-69681949-T-C c.212T>C p.L71P Missense 1/6 - 2
4-69681950-T-C c.213T>C p.L71= Synonymous 1/6 - 1
4-69681960-G-A c.223G>A p.V75I Missense 1/6 - 1
4-69681966-C-A c.229C>A p.P77T Missense 1/6 - 4
4-69681966-C-T c.229C>T p.P77S Missense 1/6 - 8
4-69681969-A-T c.232A>T p.T78S Missense 1/6 - 2
4-69681971-A-G c.234A>G p.T78= Synonymous 1/6 - 1
4-69681973-C-T c.236C>T p.S79F Missense 1/6 - 1
4-69681978-A-G c.241A>G p.T81A Missense 1/6 - 1
4-69681984-A-G c.247A>G p.T83A Missense 1/6 - 1
4-69681989-A-AC c.252_253insC p.F85Lfs*2 Frameshift 1/6 - 1
4-69681989-A-G c.252A>G p.E84= Synonymous 1/6 - 1
4-69682001-C-T c.264C>T p.I88= Synonymous 1/6 - 3
4-69682008-C-A c.271C>A p.Q91K Missense 1/6 - 1
4-69682013-G-A c.276G>A p.L92= Synonymous 1/6 - 1
4-69682013-G-C c.276G>C p.L92F Missense 1/6 - 2
4-69682013-G-T c.276G>T p.L92F Missense 1/6 - 3
4-69682018-A-G c.281A>G p.K94R Missense 1/6 - 1
4-69682021-G-A c.284G>A p.R95K Missense 1/6 - 3
4-69682021-G-T c.284G>T p.R95I Missense 1/6 - 2
4-69682026-T-C c.289T>C p.S97P Missense 1/6 - 4
4-69682035-C-T c.298C>T p.Q100* Nonsense 1/6 - 4
4-69682037-A-T c.300A>T p.Q100H Missense 1/6 - 1
4-69682040-A-G c.303A>G p.K101= Synonymous 1/6 - 1
4-69682041-G-A c.304G>A p.D102N Missense 1/6 - 2
4-69682043-T-A c.306T>A p.D102E Missense 1/6 - 2
4-69682043-T-G c.306T>G p.D102E Missense 1/6 - 1
4-69682044-A-G c.307A>G p.T103A Missense 1/6 - 1
4-69682045-C-G c.308C>G p.T103R Missense 1/6 - 1
4-69682052-G-T c.315G>T p.W105C Missense 1/6 - 1
4-69682053-T-C c.316T>C p.L106= Synonymous 1/6 - 1
4-69682055-A-G c.318A>G p.L106= Synonymous 1/6 - 1
4-69682055-A-C c.318A>C p.L106F Missense 1/6 - 1
4-69682055-A-T c.318A>T p.L106F Missense 1/6 - 1
4-69682057-C-T c.320C>T p.P107L Missense 1/6 - 2
4-69682063-C-T c.326C>T p.S109L Missense 1/6 - 2
4-69682065-C-T c.328C>T p.Q110* Nonsense 1/6 - 1
4-69682070-A-C c.333A>C p.E111D Missense 1/6 - 1
4-69682074-G-A c.337G>A p.E113K Missense 1/6 - 2
4-69682078-T-C c.341T>C p.I114T Missense 1/6 - 1
4-69682079-C-T c.342C>T p.I114= Synonymous 1/6 - 1
4-69682083-T-A c.346T>A p.W116R Missense 1/6 - 1
4-69682087-C-T c.350C>T p.A117V Missense 1/6 - 1
4-69682090-T-G c.353T>G p.I118S Missense 1/6 - 1
4-69682093-A-G c.356A>G p.N119S Missense 1/6 - 1
4-69682095-G-C c.358G>C p.D120H Missense 1/6 - 2
4-69682097-C-G c.360C>G p.D120E Missense 1/6 - 1
4-69682101-A-T c.364A>T p.I122F Missense 1/6 - 1
4-69682102-T-A c.365T>A p.I122N Missense 1/6 - 1
4-69682102-T-C c.365T>C p.I122T Missense 1/6 - 1
4-69682108-AAC-A c.371_372del p.N124Ifs*3 Frameshift 1/6 - 1
4-69682112-C-T c.375C>T p.F125= Synonymous 1/6 - 1
4-69682121-T-A c.384T>A p.D128E Missense 1/6 - 5
4-69682121-T-C c.384T>C p.D128= Synonymous 1/6 - 1
4-69682121-T-G c.384T>G p.D128E Missense 1/6 - 4
4-69682121-T-TA c.384_385insA p.V129Sfs*5 Frameshift 1/6 - 1
4-69682123-T-C c.386T>C p.V129A Missense 1/6 - 3
4-69682124-A-G c.387A>G p.V129= Synonymous 1/6 - 1
4-69682127-T-A c.390T>A p.V130= Synonymous 1/6 - 1
4-69682127-T-C c.390T>C p.V130= Synonymous 1/6 - 1
4-69682127-T-G c.390T>G p.V130= Synonymous 1/6 - 1
4-69682128-T-C c.391T>C p.S131P Missense 1/6 - 2
4-69682129-C-A c.392C>A p.S131* Nonsense 1/6 - 1
4-69682129-C-G c.392C>G p.S131* Nonsense 1/6 - 1
4-69682129-C-T c.392C>T p.S131L Missense 1/6 - 7
4-69682133-T-A c.396T>A p.N132K Missense 1/6 - 1
4-69682133-T-G c.396T>G p.N132K Missense 1/6 - 1
4-69682144-T-C c.407T>C p.M136T Missense 1/6 - 1
4-69682145-G-A c.408G>A p.M136I Missense 1/6 - 6
4-69682145-G-C c.408G>C p.M136I Missense 1/6 - 3
4-69682145-G-T c.408G>T p.M136I Missense 1/6 - 3
4-69682162-C-T c.425C>T p.S142L Missense 1/6 - 1
4-69682170-G-C c.433G>C p.D145H Missense 1/6 - 2
4-69682172-C-T c.435C>T p.D145= Synonymous 1/6 - 2
4-69682175-C-T c.438C>T p.I146= Synonymous 1/6 - 1
4-69682176-G-A c.439G>A p.V147I Missense 1/6 - 1
4-69682176-G-T c.439G>T p.V147F Missense 1/6 - 1
4-69682185-G-T c.448G>T p.D150Y Missense 1/6 - 2
4-69682188-G-A c.451G>A p.A151T Missense 1/6 - 1
4-69682192-A-G c.455A>G p.Y152C Missense 1/6 - 1
4-69682198-C-T c.461C>T p.P154L Missense 1/6 - 4
4-69682200-T-C c.463T>C p.C155R Missense 1/6 - 1
4-69682206-G-A c.469G>A p.E157K Missense 1/6 - 2
4-69682206-G-T c.469G>T p.E157* Nonsense 1/6 - 3
4-69682209-C-T c.472C>T p.L158= Synonymous 1/6 - 1
4-69682211-G-A c.474G>A p.L158= Synonymous 1/6 - 1
4-69682211-G-C c.474G>C p.L158= Synonymous 1/6 - 1
4-69682211-G-T c.474G>T p.L158= Synonymous 1/6 - 1
4-69682212-C-A c.475C>A p.L159M Missense 1/6 - 1
4-69682212-C-T c.475C>T p.L159= Synonymous 1/6 - 1
4-69682214-G-A c.477G>A p.L159= Synonymous 1/6 - 1
4-69682214-G-C c.477G>C p.L159= Synonymous 1/6 - 1
4-69682214-G-T c.477G>T p.L159= Synonymous 1/6 - 1
4-69682215-G-C c.478G>C p.A160P Missense 1/6 - 1
4-69682219-A-C c.482A>C p.E161A Missense 1/6 - 1
4-69682239-G-C c.502G>C p.V168L Missense 1/6 - 1
4-69682239-G-T c.502G>T p.V168L Missense 1/6 - 1
4-69682240-T-G c.503T>G p.V168G Missense 1/6 - 1
4-69682244-C-T c.507C>T p.Y169= Synonymous 1/6 - 1
4-69682251-AGC-TGA c.514_516delinsTGA p.S172* Nonsense 1/6 - 1
4-69682260-C-A c.523C>A p.P175T Missense 1/6 - 1
4-69682260-C-T c.523C>T p.P175S Missense 1/6 - 1
4-69682270-C-T c.533C>T p.S178L Missense 1/6 - 2
4-69682271-A-AG c.534_535insG p.F179Vfs*2 Frameshift 1/6 - 1
4-69682273-T-G c.536T>G p.F179C Missense 1/6 - 1
4-69682275-G-A c.538G>A p.E180K Missense 1/6 - 5
4-69682276-AA-G c.539_540delinsG p.E180Gfs*21 Frameshift 1/6 - 1
4-69682277-A-G c.540A>G p.E180= Synonymous 1/6 - 3
4-69682279-G-T c.542G>T p.R181M Missense 1/6 - 1
4-69682280-G-A c.543G>A p.R181= Synonymous 1/6 - 1
4-69682280-G-T c.543G>T p.R181S Missense 1/6 - 1
4-69682283-C-T c.546C>T p.H182= Synonymous 1/6 - 1
4-69682287-G-A c.550G>A p.G184R Missense 1/6 - 3
4-69682287-G-C c.550G>C p.G184R Missense 1/6 - 1
4-69682288-G-C c.551G>C p.G184A Missense 1/6 - 5
4-69682301-C-T c.564C>T p.F188= Synonymous 1/6 - 5
4-69682302-C-A c.565C>A p.P189T Missense 1/6 - 1
4-69682302-C-T c.565C>T p.P189S Missense 1/6 - 3
4-69682303-C-A c.566C>A p.P189H Missense 1/6 - 1
4-69682305-C-T c.568C>T p.P190S Missense 1/6 - 1
4-69682309-C-T c.572C>T p.S191F Missense 1/6 - 4
4-69682317-C-T c.580C>T p.P194S Missense 1/6 - 1
4-69682318-C-T c.581C>T p.P194L Missense 1/6 - 1
4-69682320-G-T c.583G>T p.V195F Missense 1/6 - 1
4-69682318-CTGT-C c.586_588del p.V196del InFrameDeletion 1/6 - 1
4-69682326-A-AC c.589_590insC p.M197Tfs*6 Frameshift 1/6 - 1
4-69682327-T-C c.590T>C p.M197T Missense 1/6 - 1
4-69682328-G-A c.591G>A p.M197I Missense 1/6 - 2
4-69682328-G-C c.591G>C p.M197I Missense 1/6 - 1
4-69682328-G-T c.591G>T p.M197I Missense 1/6 - 2
4-69682330-C-G c.593C>G p.S198* Nonsense 1/6 - 1
4-69682330-C-T c.593C>T p.S198L Missense 1/6 - 1
4-69682336-T-A c.599T>A p.L200* Nonsense 1/6 - 2
4-69682338-AG-TT c.601_602delinsTT p.S201F Missense 1/6 - 1
4-69682347-A-G c.610A>G p.M204V Missense 1/6 - 2
4-69682349-G-A c.612G>A p.M204I Missense 1/6 - 1
4-69682349-G-C c.612G>C p.M204I Missense 1/6 - 1
4-69682349-G-T c.612G>T p.M204I Missense 1/6 - 1
4-69682355-C-T c.618C>T p.F206= Synonymous 1/6 - 3
4-69682359-G-T c.622G>T p.E208* Nonsense 1/6 - 1
4-69682361-G-T c.624G>T p.E208D Missense 1/6 - 1
4-69682363-G-A c.626G>A p.R209K Missense 1/6 - 2
4-69682363-G-T c.626G>T p.R209M Missense 1/6 - 1
4-69682371-A-T c.634A>T p.N212Y Missense 1/6 - 1
4-69682366-TA-T c.635del p.N212Ifs*17 Frameshift 1/6 - 1
4-69682379-C-A c.642C>A p.L214= Synonymous 1/6 - 2
4-69682379-C-G c.642C>G p.L214= Synonymous 1/6 - 1
4-69682379-C-T c.642C>T p.L214= Synonymous 1/6 - 1
4-69682382-T-A c.645T>A p.Y215* Nonsense 1/6 - 1
4-69682382-T-G c.645T>G p.Y215* Nonsense 1/6 - 1
4-69682393-T-C c.656T>C p.F219S Missense 1/6 - 1
4-69682390-A-AT c.657dup p.D220* Nonsense 1/6 - 1
4-69682395-G-T c.658G>T p.D220Y Missense 1/6 - 1
4-69682399-T-G c.662T>G p.F221C Missense 1/6 - 1
4-69682402-G-A c.665G>A p.W222* Nonsense 1/6 - 1
4-69682402-G-C c.665G>C p.W222S Missense 1/6 - 3
4-69682406-C-T c.669C>T p.F223= Synonymous 1/6 - 2
4-69682409-A-G c.672A>G p.Q224= Synonymous 1/6 - 1
4-69682412-A-G c.675A>G p.I225M Missense 1/6 - 3
4-69682421-G-A c.684G>A p.M228I Missense 1/6 - 2
4-69682424-G-C c.687G>C p.K229N Missense 1/6 - 1
4-69682424-G-T c.687G>T p.K229N Missense 1/6 - 1
4-69682427-G-A c.690G>A p.K230= Synonymous 1/6 - 1
4-69682427-G-T c.690G>T p.K230N Missense 1/6 - 1
4-69682430-G-C c.693G>C p.W231C Missense 1/6 - 2
4-69682430-G-T c.693G>T p.W231C Missense 1/6 - 2
4-69682431-G-A c.694G>A p.D232N Missense 1/6 - 2
4-69682436-G-C c.699G>C p.Q233H Missense 1/6 - 4
4-69682436-G-T c.699G>T p.Q233H Missense 1/6 - 2
4-69682442-C-T c.705C>T p.Y235= Synonymous 1/6 - 2
4-69682446-G-A c.709G>A p.E237K Missense 1/6 - 6
4-69682449-G-A c.712G>A p.V238I Missense 1/6 - 1
4-69682452-T-A c.715T>A p.L239I Missense 1/6 - 1
4-69682456-G-A c.718+1G>A - IntronicSNV - 1/5 1
4-69682456-G-T c.718+1G>T - IntronicSNV - 1/5 1
4-69682459-A-T c.718+4A>T - IntronicSNV - 1/5 1
4-69682471-A-G c.718+16A>G - IntronicSNV - 1/5 5
4-69682471-A-T c.718+16A>T - IntronicSNV - 1/5 3
4-69682555-G-A c.718+100G>A - IntronicSNV - 1/5 4
4-69682629-A-C c.718+174A>C - IntronicSNV - 1/5 1
4-69682629-A-G c.718+174A>G - IntronicSNV - 1/5 2
4-69682795-G-A c.718+340G>A - IntronicSNV - 1/5 3
4-69682855-T-A c.718+400T>A - IntronicSNV - 1/5 2
4-69682855-T-G c.718+400T>G - IntronicSNV - 1/5 2
4-69683756-C-T c.728C>T p.T243I Missense 2/6 - 1
4-69683761-T-G c.733T>G p.L245V Missense 2/6 - 1
4-69683762-T-C c.734T>C p.L245S Missense 2/6 - 1
4-69683765-C-T c.737C>T p.S246F Missense 2/6 - 2
4-69683767-G-C c.739G>C p.E247Q Missense 2/6 - 3
4-69683768-A-AG c.741dup p.T248Dfs*6 Frameshift 2/6 - 1
4-69683769-G-T c.741G>T p.E247D Missense 2/6 - 1
4-69683775-G-T c.747G>T p.M249I Missense 2/6 - 1
4-69683785-G-A c.757G>A p.D253N Missense 2/6 - 2
4-69683792-G-T c.764G>T p.W255L Missense 2/6 - 1
4-69683793-G-A c.765G>A p.W255* Nonsense 2/6 - 2
4-69683794-C-T c.766C>T p.L256F Missense 2/6 - 4
4-69683796-T-C c.768T>C p.L256= Synonymous 2/6 - 1
4-69683797-A-C c.769A>C p.M257L Missense 2/6 - 1
4-69683799-G-A c.771G>A p.M257I Missense 2/6 - 1
4-69683799-G-C c.771G>C p.M257I Missense 2/6 - 1
4-69683799-G-T c.771G>T p.M257I Missense 2/6 - 1
4-69683800-C-G c.772C>G p.R258G Missense 2/6 - 1
4-69683800-C-T c.772C>T p.R258* Nonsense 2/6 - 2
4-69683800-GC-G c.772del p.R258Efs*58 Frameshift 2/6 - 1
4-69683801-G-A c.773G>A p.R258Q Missense 2/6 - 1
4-69683801-G-C c.773G>C p.R258P Missense 2/6 - 2
4-69683804-A-T c.776A>T p.N259I Missense 2/6 - 1
4-69683807-C-A c.779C>A p.S260Y Missense 2/6 - 1
4-69683807-C-T c.779C>T p.S260F Missense 2/6 - 5
4-69683822-T-G c.794T>G p.F265C Missense 2/6 - 5
4-69683824-C-T c.796C>T p.P266S Missense 2/6 - 7
4-69683829-T-A c.801T>A p.H267Q Missense 2/6 - 1
4-69683830-C-T c.802C>T p.P268S Missense 2/6 - 3
4-69683831-C-A c.803C>A p.P268Q Missense 2/6 - 1
4-69683831-C-T c.803C>T p.P268L Missense 2/6 - 1
4-69683839-C-A c.811C>A p.P271T Missense 2/6 - 3
4-69683839-C-T c.811C>T p.P271S Missense 2/6 - 1
4-69683840-C-T c.812C>T p.P271L Missense 2/6 - 2
4-69683844-T-C c.816T>C p.N272= Synonymous 2/6 - 1
4-69683845-G-T c.817G>T p.V273F Missense 2/6 - 1
4-69683846-T-C c.818T>C p.V273A Missense 2/6 - 1
4-69683847-T-A c.819T>A p.V273= Synonymous 2/6 - 1
4-69683847-T-C c.819T>C p.V273= Synonymous 2/6 - 1
4-69683847-T-G c.819T>G p.V273= Synonymous 2/6 - 1
4-69683848-G-A c.820G>A p.D274N Missense 2/6 - 2
4-69683858-G-A c.830G>A p.G277E Missense 2/6 - 3
4-69683860-G-A c.832G>A p.G278R Missense 2/6 - 1
4-69683860-G-C c.832G>C p.G278R Missense 2/6 - 1
4-69683865-C-T c.837C>T p.L279= Synonymous 2/6 - 1
4-69683869-T-A c.841T>A p.C281S Missense 2/6 - 1
4-69683870-G-C c.842G>C p.C281S Missense 2/6 - 1
4-69683875-C-G c.847C>G p.P283A Missense 2/6 - 3
4-69683876-C-T c.848C>T p.P283L Missense 2/6 - 4
4-69683877-T-A c.849T>A p.P283= Synonymous 2/6 - 1
4-69683879-C-A c.851C>A p.A284D Missense 2/6 - 1
4-69683879-C-T c.851C>T p.A284V Missense 2/6 - 1
4-69683882-A-G c.854A>G p.K285R Missense 2/6 - 2
4-69683885-C-T c.857C>T p.P286L Missense 2/6 - 5
4-69683890-C-G c.862C>G p.P288A Missense 2/6 - 1
4-69683891-C-T c.863C>T p.P288L Missense 2/6 - 1
4-69683893-A-C c.865A>C p.K289Q Missense 2/6 - 1
4-69683953-G-A c.866+59G>A - IntronicSNV - 2/5 2
4-69683953-G-C c.866+59G>C - IntronicSNV - 2/5 2
4-69684121-G-T c.866+227G>T - IntronicSNV - 2/5 2
4-69685772-G-A c.866+1878G>A - IntronicSNV - 2/5 1
4-69685853-G-A c.866+1959G>A - IntronicSNV - 2/5 2
4-69686221-G-T c.867-1767G>T - IntronicSNV - 2/5 2
4-69687964-G-A c.867-24G>A - IntronicSNV - 2/5 2
4-69687987-C-A c.867-1C>A - IntronicSNV - 2/5 14
4-69687987-C-G c.867-1C>G - IntronicSNV - 2/5 14
4-69687987-C-T c.867-1C>T - IntronicSNV - 2/5 14
4-69687989-G-A c.868G>A p.E290K Missense 3/6 - 5
4-69687990-A-G c.869A>G p.E290G Missense 3/6 - 1
4-69687994-G-A c.873G>A p.M291I Missense 3/6 - 2
4-69687995-G-A c.874G>A p.E292K Missense 3/6 - 1
4-69687995-G-T c.874G>T p.E292* Nonsense 3/6 - 1
4-69688000-G-T c.879G>T p.E293D Missense 3/6 - 1
4-69688017-G-A c.896G>A p.G299E Missense 3/6 - 2
4-69688022-A-T c.901A>T p.N301Y Missense 3/6 - 2
4-69688025-G-A c.904G>A p.G302S Missense 3/6 - 4
4-69688025-G-T c.904G>T p.G302C Missense 3/6 - 2
4-69688026-GT-AG c.905_906delinsAG p.G302E Missense 3/6 - 1
4-69688029-T-C c.908T>C p.V303A Missense 3/6 - 1
4-69688033-G-T c.912G>T p.V304= Synonymous 3/6 - 1
4-69688050-C-T c.929C>T p.S310L Missense 3/6 - 1
4-69688051-A-C c.930A>C p.S310= Synonymous 3/6 - 1
4-69688051-A-G c.930A>G p.S310= Synonymous 3/6 - 1
4-69688051-A-T c.930A>T p.S310= Synonymous 3/6 - 1
4-69688052-A-G c.931A>G p.M311V Missense 3/6 - 1
4-69688053-T-C c.932T>C p.M311T Missense 3/6 - 1
4-69688054-G-T c.933G>T p.M311I Missense 3/6 - 1
4-69688060-T-C c.939T>C p.S313= Synonymous 3/6 - 1
4-69688068-C-T c.947C>T p.T316I Missense 3/6 - 1
4-69688069-A-G c.948A>G p.T316= Synonymous 3/6 - 2
4-69688071-A-C c.950A>C p.E317A Missense 3/6 - 2
4-69688071-A-T c.950A>T p.E317V Missense 3/6 - 4
4-69688077-G-T c.956G>T p.R319M Missense 3/6 - 1
4-69688080-C-T c.959C>T p.A320V Missense 3/6 - 1
4-69688085-G-A c.964G>A p.V322I Missense 3/6 - 2
4-69688091-G-T c.970G>T p.A324S Missense 3/6 - 1
4-69688092-C-T c.971C>T p.A324V Missense 3/6 - 1
4-69688094-A-G c.973A>G p.T325A Missense 3/6 - 1
4-69688099-C-A c.978C>A p.A326= Synonymous 3/6 - 1
4-69688100-C-T c.979C>T p.L327F Missense 3/6 - 2
4-69688108-G-C c.987G>C p.K329N Missense 3/6 - 2
4-69688108-G-T c.987G>T p.K329N Missense 3/6 - 2
4-69688112-C-T c.991C>T p.P331S Missense 3/6 - 1
4-69688120-G-A c.999G>A p.K333= Synonymous 3/6 - 3
4-69688125-G-T c.999+5G>T - IntronicSNV - 3/5 2
4-69691521-G-C c.1000-607G>C - IntronicSNV - 3/5 3
4-69692127-G-C c.1000-1G>C - IntronicSNV - 3/5 1
4-69692131-C-A c.1003C>A p.L335I Missense 4/6 - 6
4-69692136-G-C c.1008G>C p.W336C Missense 4/6 - 1
4-69692138-G-A c.1010G>A p.R337K Missense 4/6 - 1
4-69692138-G-C c.1010G>C p.R337T Missense 4/6 - 1
4-69692146-G-A c.1018G>A p.G340R Missense 4/6 - 1
4-69692146-G-C c.1018G>C p.G340R Missense 4/6 - 1
4-69692148-G-A c.1020G>A p.G340= Synonymous 4/6 - 3
4-69692148-G-T c.1020G>T p.G340= Synonymous 4/6 - 2
4-69692154-A-T c.1026A>T p.K342N Missense 4/6 - 2
4-69692155-C-A c.1027C>A p.P343T Missense 4/6 - 1
4-69692156-C-A c.1028C>A p.P343Q Missense 4/6 - 2
4-69692156-C-T c.1028C>T p.P343L Missense 4/6 - 1
4-69692158-G-A c.1030G>A p.D344N Missense 4/6 - 3
4-69692162-C-G c.1034C>G p.A345G Missense 4/6 - 1
4-69692162-C-T c.1034C>T p.A345V Missense 4/6 - 1
4-69692163-C-A c.1035C>A p.A345= Synonymous 4/6 - 4
4-69692163-C-G c.1035C>G p.A345= Synonymous 4/6 - 4
4-69692163-C-T c.1035C>T p.A345= Synonymous 4/6 - 1
4-69692167-G-A c.1039G>A p.G347S Missense 4/6 - 4
4-69692168-GT-AG c.1040_1041delinsAG p.G347E Missense 4/6 - 1
4-69692170-C-A c.1042C>A p.L348I Missense 4/6 - 1
4-69692173-A-T c.1045A>T p.N349Y Missense 4/6 - 1
4-69692176-A-G c.1048A>G p.T350A Missense 4/6 - 1
4-69692176-A-T c.1048A>T p.T350S Missense 4/6 - 1
4-69692179-C-T c.1051C>T p.R351* Nonsense 4/6 - 1
4-69692180-G-A c.1052G>A p.R351Q Missense 4/6 - 3
4-69692180-G-C c.1052G>C p.R351P Missense 4/6 - 2
4-69692182-C-A c.1054C>A p.L352M Missense 4/6 - 1
4-69692182-C-T c.1054C>T p.L352= Synonymous 4/6 - 1
4-69692184-G-A c.1056G>A p.L352= Synonymous 4/6 - 1
4-69692184-G-C c.1056G>C p.L352= Synonymous 4/6 - 3
4-69692184-G-T c.1056G>T p.L352= Synonymous 4/6 - 1
4-69692189-A-C c.1061A>C p.K354T Missense 4/6 - 1
4-69692191-T-A c.1063T>A p.W355R Missense 4/6 - 1
4-69692191-T-C c.1063T>C p.W355R Missense 4/6 - 1
4-69692192-G-A c.1064G>A p.W355* Nonsense 4/6 - 3
4-69692193-G-A c.1065G>A p.W355* Nonsense 4/6 - 1
4-69692198-C-T c.1070C>T p.P357L Missense 4/6 - 1
4-69692199-C-A c.1071C>A p.P357= Synonymous 4/6 - 2
4-69692199-C-G c.1071C>G p.P357= Synonymous 4/6 - 2
4-69692199-C-T c.1071C>T p.P357= Synonymous 4/6 - 3
4-69692200-C-T c.1072C>T p.Q358* Nonsense 4/6 - 1
4-69692202-G-C c.1074G>C p.Q358H Missense 4/6 - 2
4-69692202-G-T c.1074G>T p.Q358H Missense 4/6 - 2
4-69692206-G-A c.1078G>A p.D360N Missense 4/6 - 2
4-69692208-C-A c.1080C>A p.D360E Missense 4/6 - 1
4-69692208-C-G c.1080C>G p.D360E Missense 4/6 - 1
4-69692209-C-T c.1081C>T p.L361F Missense 4/6 - 2
4-69692210-T-A c.1082T>A p.L361H Missense 4/6 - 1
4-69692212-C-A c.1084C>A p.L362I Missense 4/6 - 1
4-69692212-C-T c.1084C>T p.L362= Synonymous 4/6 - 3
4-69692214-A-C c.1086A>C p.L362= Synonymous 4/6 - 1
4-69692214-A-G c.1086A>G p.L362= Synonymous 4/6 - 1
4-69692214-A-T c.1086A>T p.L362= Synonymous 4/6 - 1
4-69692215-G-C c.1087G>C p.G363R Missense 4/6 - 1
4-69692215-G-T c.1087G>T p.G363C Missense 4/6 - 5
4-69693052-C-T c.1093C>T p.P365S Missense 5/6 - 4
4-69693056-A-T c.1097A>T p.K366I Missense 5/6 - 1
4-69693053-C-CA c.1099dup p.T367Nfs*15 Frameshift 5/6 - 2
4-69693059-C-A c.1100C>A p.T367N Missense 5/6 - 1
4-69693067-T-C c.1108T>C p.F370L Missense 5/6 - 1
4-69693068-T-A c.1109T>A p.F370Y Missense 5/6 - 1
4-69693070-A-T c.1111A>T p.I371L Missense 5/6 - 2
4-69693080-G-T c.1121G>T p.G374V Missense 5/6 - 1
4-69693083-G-A c.1124G>A p.G375E Missense 5/6 - 1
4-69693089-A-G c.1130A>G p.N377S Missense 5/6 - 1
4-69693092-G-A c.1133G>A p.G378D Missense 5/6 - 3
4-69693099-T-C c.1140T>C p.Y380= Synonymous 5/6 - 2
4-69693102-G-T c.1143G>T p.E381D Missense 5/6 - 1
4-69693103-G-A c.1144G>A p.A382T Missense 5/6 - 2
4-69693116-G-A c.1157G>A p.G386E Missense 5/6 - 4
4-69693116-GG-AA c.1157_1158delinsAA p.G386E Missense 5/6 - 1
4-69693120-C-T c.1161C>T p.I387= Synonymous 5/6 - 2
4-69693121-C-G c.1162C>G p.P388A Missense 5/6 - 1
4-69693122-C-T c.1163C>T p.P388L Missense 5/6 - 1
4-69693123-T-A c.1164T>A p.P388= Synonymous 5/6 - 1
4-69693123-T-C c.1164T>C p.P388= Synonymous 5/6 - 1
4-69693123-T-G c.1164T>G p.P388= Synonymous 5/6 - 1
4-69693124-A-C c.1165A>C p.M389L Missense 5/6 - 1
4-69693124-A-T c.1165A>T p.M389L Missense 5/6 - 1
4-69693136-C-T c.1177C>T p.P393S Missense 5/6 - 3
4-69693137-C-T c.1178C>T p.P393L Missense 5/6 - 6
4-69693142-T-A c.1183T>A p.F395I Missense 5/6 - 2
4-69693143-T-G c.1184T>G p.F395C Missense 5/6 - 2
4-69693141-GT-G c.1188del p.F396Lfs*10 Frameshift 5/6 - 3
4-69693151-C-A c.1192C>A p.Q398K Missense 5/6 - 1
4-69693154-C-A c.1195C>A p.P399T Missense 5/6 - 1
4-69693154-C-T c.1195C>T p.P399S Missense 5/6 - 1
4-69693155-C-T c.1196C>T p.P399L Missense 5/6 - 1
4-69693157-G-A c.1198G>A p.D400N Missense 5/6 - 1
4-69693162-T-C c.1203T>C p.N401= Synonymous 5/6 - 1
4-69693173-T-C c.1214T>C p.M405T Missense 5/6 - 2
4-69693177-G-A c.1218G>A p.K406= Synonymous 5/6 - 3
4-69693177-G-T c.1218G>T p.K406N Missense 5/6 - 1
4-69693179-C-T c.1220C>T p.A407V Missense 5/6 - 1
4-69693182-A-C c.1223A>C p.K408T Missense 5/6 - 1
4-69693182-A-G c.1223A>G p.K408R Missense 5/6 - 1
4-69693184-G-A c.1225G>A p.G409R Missense 5/6 - 4
4-69693184-G-C c.1225G>C p.G409R Missense 5/6 - 1
4-69693184-GGA-AGC c.1225_1227delinsAGC p.G409S Missense 5/6 - 1
4-69693185-G-A c.1226G>A p.G409E Missense 5/6 - 1
4-69693186-A-T c.1227A>T p.G409= Synonymous 5/6 - 1
4-69693187-G-A c.1228G>A p.A410T Missense 5/6 - 2
4-69693188-C-A c.1229C>A p.A410E Missense 5/6 - 1
4-69693193-G-A c.1234G>A p.V412I Missense 5/6 - 1
4-69693196-A-T c.1237A>T p.R413* Nonsense 5/6 - 1
4-69693199-G-T c.1240G>T p.V414L Missense 5/6 - 1
4-69693205-T-C c.1246T>C p.F416L Missense 5/6 - 1
4-69693207-C-A c.1248C>A p.F416L Missense 5/6 - 1
4-69693207-C-G c.1248C>G p.F416L Missense 5/6 - 1
4-69693211-A-G c.1252A>G p.T418A Missense 5/6 - 1
4-69693212-C-T c.1253C>T p.T418I Missense 5/6 - 1
4-69693218-C-A c.1259C>A p.S420* Nonsense 5/6 - 1
4-69693218-C-G c.1259C>G p.S420W Missense 5/6 - 1
4-69693218-CG-GT c.1259_1260delinsGT p.S420C Missense 5/6 - 1
4-69693219-G-A c.1260G>A p.S420= Synonymous 5/6 - 1
4-69693219-G-C c.1260G>C p.S420= Synonymous 5/6 - 1
4-69693219-G-T c.1260G>T p.S420= Synonymous 5/6 - 1
4-69693221-G-C c.1262G>C p.S421T Missense 5/6 - 1
4-69693221-G-T c.1262G>T p.S421I Missense 5/6 - 2
4-69693223-A-G c.1264A>G p.T422A Missense 5/6 - 3
4-69693229-C-T c.1270C>T p.L424= Synonymous 5/6 - 2
4-69693235-A-T c.1276A>T p.N426Y Missense 5/6 - 2
4-69693237-T-A c.1278T>A p.N426K Missense 5/6 - 1
4-69693238-G-A c.1279G>A p.A427T Missense 5/6 - 3
4-69693242-T-C c.1283T>C p.L428P Missense 5/6 - 2
4-69693241-C-T c.1282C>T p.L428= Synonymous 5/6 - 1
4-69693243-G-A c.1284G>A p.L428= Synonymous 5/6 - 1
4-69693243-G-C c.1284G>C p.L428= Synonymous 5/6 - 1
4-69693243-G-T c.1284G>T p.L428= Synonymous 5/6 - 1
4-69693245-A-C c.1286A>C p.K429T Missense 5/6 - 1
4-69693246-G-T c.1287G>T p.K429N Missense 5/6 - 1
4-69693248-C-G c.1289C>G p.T430R Missense 5/6 - 4
4-69693255-T-G c.1296T>G p.I432M Missense 5/6 - 1
4-69693259-G-A c.1300G>A p.D434N Missense 5/6 - 5
4-69693259-G-T c.1300G>T p.D434Y Missense 5/6 - 4
4-69693261-T-A c.1302T>A p.D434E Missense 5/6 - 1
4-69693262-C-T c.1303C>T p.P435S Missense 5/6 - 3
4-69693263-C-A c.1304C>A p.P435H Missense 5/6 - 1
4-69693266-C-T c.1307C>T p.S436L Missense 5/6 - 6
4-69693267-G-A c.1307+1G>A - IntronicSNV - 5/5 3
4-69693267-G-C c.1307+1G>C - IntronicSNV - 5/5 3
4-69693815-C-T c.1307+549C>T - IntronicSNV - 5/5 1
4-69694824-C-T c.1308-1494C>T - IntronicSNV - 5/5 1
4-69695310-G-A c.1308-1008G>A - IntronicSNV - 5/5 1
4-69695921-T-A c.1308-397T>A - IntronicSNV - 5/5 1
4-69696323-A-C c.1313A>C p.K438T Missense 6/6 - 1
4-69696331-A-G c.1321A>G p.I441V Missense 6/6 - 1
4-69696341-T-C c.1331T>C p.L444S Missense 6/6 - 1
4-69696344-C-T c.1334C>T p.S445L Missense 6/6 - 2
4-69696346-A-G c.1336A>G p.R446G Missense 6/6 - 2
4-69696346-A-T c.1336A>T p.R446* Nonsense 6/6 - 1
4-69696347-G-A c.1337G>A p.R446K Missense 6/6 - 2
4-69696347-G-C c.1337G>C p.R446T Missense 6/6 - 1
4-69696349-A-C c.1339A>C p.I447L Missense 6/6 - 1
4-69696352-C-A c.1342C>A p.Q448K Missense 6/6 - 1
4-69696360-T-A c.1350T>A p.D450E Missense 6/6 - 2
4-69696360-T-G c.1350T>G p.D450E Missense 6/6 - 2
4-69696361-C-T c.1351C>T p.Q451* Nonsense 6/6 - 1
4-69696363-A-G c.1353A>G p.Q451= Synonymous 6/6 - 1
4-69696364-C-T c.1354C>T p.P452S Missense 6/6 - 1
4-69696367-G-A c.1357G>A p.V453M Missense 6/6 - 1
4-69696369-GA-G c.1361del p.K454Sfs*39 Frameshift 6/6 - 1
4-69696374-C-A c.1364C>A p.P455H Missense 6/6 - 1
4-69696378-G-T c.1368G>T p.L456= Synonymous 6/6 - 1
4-69696380-A-G c.1370A>G p.D457G Missense 6/6 - 1
4-69696382-C-T c.1372C>T p.R458* Nonsense 6/6 - 5
4-69696393-C-T c.1383C>T p.F461= Synonymous 6/6 - 1
4-69696394-T-A c.1384T>A p.W462R Missense 6/6 - 2
4-69696394-T-C c.1384T>C p.W462R Missense 6/6 - 1
4-69696395-G-A c.1385G>A p.W462* Nonsense 6/6 - 1
4-69696399-T-A c.1389T>A p.I463= Synonymous 6/6 - 1
4-69696399-T-C c.1389T>C p.I463= Synonymous 6/6 - 1
4-69696401-A-G c.1391A>G p.E464G Missense 6/6 - 2
4-69696404-T-C c.1394T>C p.F465S Missense 6/6 - 1
4-69696406-G-C c.1396G>C p.V466L Missense 6/6 - 4
4-69696411-G-T c.1401G>T p.M467I Missense 6/6 - 1
4-69696412-C-T c.1402C>T p.R468C Missense 6/6 - 6
4-69696413-G-A c.1403G>A p.R468H Missense 6/6 - 3
4-69696413-G-T c.1403G>T p.R468L Missense 6/6 - 1
4-69696422-G-A c.1412G>A p.G471E Missense 6/6 - 5
4-69696425-C-T c.1415C>T p.A472V Missense 6/6 - 1
4-69696429-A-C c.1419A>C p.K473N Missense 6/6 - 1
4-69696429-A-T c.1419A>T p.K473N Missense 6/6 - 2
4-69696430-C-T c.1420C>T p.H474Y Missense 6/6 - 1
4-69696436-CGA-TGT c.1426_1428delinsTGT p.R476C Missense 6/6 - 1
4-69696436-C-T c.1426C>T p.R476* Nonsense 6/6 - 6
4-69696437-G-A c.1427G>A p.R476Q Missense 6/6 - 2
4-69696437-G-C c.1427G>C p.R476P Missense 6/6 - 2
4-69696437-G-T c.1427G>T p.R476L Missense 6/6 - 1
4-69696438-A-T c.1428A>T p.R476= Synonymous 6/6 - 2
4-69696447-C-A c.1437C>A p.A479= Synonymous 6/6 - 1
4-69696447-C-G c.1437C>G p.A479= Synonymous 6/6 - 1
4-69696447-C-T c.1437C>T p.A479= Synonymous 6/6 - 1
4-69696450-C-A c.1440C>A p.H480Q Missense 6/6 - 2
4-69696450-C-G c.1440C>G p.H480Q Missense 6/6 - 1
4-69696451-A-G c.1441A>G p.N481D Missense 6/6 - 3
4-69696453-C-T c.1443C>T p.N481= Synonymous 6/6 - 1
4-69696454-C-A c.1444C>A p.L482I Missense 6/6 - 1
4-69696458-C-T c.1448C>T p.T483I Missense 6/6 - 1
4-69696459-C-A c.1449C>A p.T483= Synonymous 6/6 - 1
4-69696459-C-G c.1449C>G p.T483= Synonymous 6/6 - 2
4-69696459-C-T c.1449C>T p.T483= Synonymous 6/6 - 1
4-69696460-T-C c.1450T>C p.W484R Missense 6/6 - 1
4-69696460-T-G c.1450T>G p.W484G Missense 6/6 - 1
4-69696461-G-C c.1451G>C p.W484S Missense 6/6 - 1
4-69696461-G-GAAGA c.1451_1452insAAGA p.W484* Nonsense 6/6 - 1
4-69696462-G-C c.1452G>C p.W484C Missense 6/6 - 1
4-69696462-G-T c.1452G>T p.W484C Missense 6/6 - 1
4-69696465-C-T c.1455C>T p.F485= Synonymous 6/6 - 3
4-69696466-C-T c.1456C>T p.Q486* Nonsense 6/6 - 1
4-69696467-A-G c.1457A>G p.Q486R Missense 6/6 - 1
4-69696468-G-A c.1458G>A p.Q486= Synonymous 6/6 - 2
4-69696470-A-C c.1460A>C p.Y487S Missense 6/6 - 1
4-69696472-C-A c.1462C>A p.H488N Missense 6/6 - 1
4-69696479-T-C c.1469T>C p.L490S Missense 6/6 - 2
4-69696480-GG-AA c.1470_1471delinsAA p.D491N Missense 6/6 - 1
4-69696481-G-A c.1471G>A p.D491N Missense 6/6 - 4
4-69696483-T-C c.1473T>C p.D491= Synonymous 6/6 - 1
4-69696484-G-A c.1474G>A p.V492M Missense 6/6 - 2
4-69696486-G-A c.1476G>A p.V492= Synonymous 6/6 - 1
4-69696486-G-C c.1476G>C p.V492= Synonymous 6/6 - 1
4-69696486-G-T c.1476G>T p.V492= Synonymous 6/6 - 1
4-69696488-T-C c.1478T>C p.I493T Missense 6/6 - 3
4-69696492-G-A c.1482G>A p.G494= Synonymous 6/6 - 1
4-69696492-G-C c.1482G>C p.G494= Synonymous 6/6 - 1
4-69696492-G-T c.1482G>T p.G494= Synonymous 6/6 - 2
4-69696495-C-T c.1485C>T p.F495= Synonymous 6/6 - 5
4-69696500-T-C c.1490T>C p.L497P Missense 6/6 - 1
4-69696502-G-T c.1492G>T p.A498S Missense 6/6 - 3
4-69696504-T-A c.1494T>A p.A498= Synonymous 6/6 - 1
4-69696504-T-C c.1494T>C p.A498= Synonymous 6/6 - 3
4-69696504-T-G c.1494T>G p.A498= Synonymous 6/6 - 3
4-69696510-G-T c.1500G>T p.V500= Synonymous 6/6 - 1
4-69696511-G-A c.1501G>A p.A501T Missense 6/6 - 1
4-69696511-G-T c.1501G>T p.A501S Missense 6/6 - 4
4-69696512-C-A c.1502C>A p.A501E Missense 6/6 - 1
4-69696515-C-T c.1505C>T p.T502I Missense 6/6 - 5
4-69696516-C-T c.1506C>T p.T502= Synonymous 6/6 - 1
4-69696517-G-C c.1507G>C p.V503L Missense 6/6 - 1
4-69696517-G-T c.1507G>T p.V503L Missense 6/6 - 1
4-69696525-T-C c.1515T>C p.F505= Synonymous 6/6 - 1
4-69696528-C-T c.1518C>T p.I506= Synonymous 6/6 - 1
4-69696535-A-T c.1525A>T p.K509* Nonsense 6/6 - 3
4-69696539-G-C c.1529G>C p.C510S Missense 6/6 - 1
4-69696544-C-A c.1534C>A p.L512M Missense 6/6 - 1
4-69696547-T-A c.1537T>A p.F513I Missense 6/6 - 1
4-69696558-G-C c.1548G>C p.W516C Missense 6/6 - 1
4-69696558-G-T c.1548G>T p.W516C Missense 6/6 - 1
4-69696561-G-A c.1551G>A p.K517= Synonymous 6/6 - 1
4-69696564-T-C c.1554T>C p.F518= Synonymous 6/6 - 1
4-69696567-T-A c.1557T>A p.A519= Synonymous 6/6 - 1
4-69696568-A-G c.1558A>G p.R520G Missense 6/6 - 4
4-69696568-A-T c.1558A>T p.R520* Nonsense 6/6 - 1
4-69696569-G-A c.1559G>A p.R520K Missense 6/6 - 2
4-69696568-A-C c.1558A>C p.R520= Synonymous 6/6 - 1
4-69696570-A-G c.1560A>G p.R520= Synonymous 6/6 - 1
4-69696575-G-A c.1565G>A p.G522E Missense 6/6 - 6
4-69696577-A-C c.1567A>C p.K523Q Missense 6/6 - 1
4-69696576-A-AAAT c.1568_1569insTAA p.G522_K523insN InFrameInsertion 6/6 - 1
4-69696579-G-C c.1569G>C p.K523N Missense 6/6 - 2
4-69696579-G-T c.1569G>T p.K523N Missense 6/6 - 2
4-69696582-G-A c.1572G>A p.K524= Synonymous 6/6 - 2
4-69696583-G-A c.1573G>A p.G525R Missense 6/6 - 1
4-69696583-G-C c.1573G>C p.G525R Missense 6/6 - 1
4-69696583-G-T c.1573G>T p.G525* Nonsense 6/6 - 2
4-69696584-G-A c.1574G>A p.G525E Missense 6/6 - 6
4-69696584-G-T c.1574G>T p.G525V Missense 6/6 - 3
4-69696586-A-C c.1576A>C p.K526Q Missense 6/6 - 1
4-69696584-GA-G c.1579del p.R527Gfs*6 Frameshift 6/6 - 1
4-69696589-A-G c.1579A>G p.R527G Missense 6/6 - 3
4-69696590-G-A c.1580G>A p.R527K Missense 6/6 - 6
4-69696591-G-A c.1581G>A p.R527= Synonymous 6/6 - 1
4-69696592-G-A c.1582G>A p.D528N Missense 6/6 - 4
4-69696596-A-C c.1586A>C p.*529Sext*13 Missense 6/6 - 2
4-69696596-A-G c.1586A>G p.*529Wext*13 Missense 6/6 - 2
4-69696638-A-G c.*41A>G - 3-UTRSNV 6/6 - 8
4-69696648-T-C c.*51T>C - 3-UTRSNV 6/6 - 6
4-69696752-A-G c.*155A>G - 3-UTRSNV 6/6 - 2
4-69697187-G-A c.*590G>A - 3-UTRSNV 6/6 - 2
4-69697613-A-G c.*1016A>G - 3-UTRSNV 6/6 - 1