ARHGEF40

ARHGEF40 Rho guanine nucleotide exchange factor 40

Annotation transcript: NM_018071.5

1530 unique variant annotations were identified in 640 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
14-21538614-G-A c.3+56G>A - IntronicSNV - 1/23 1
14-21538839-C-T c.3+281C>T - IntronicSNV - 1/23 1
14-21540863-G-T c.4-341G>T - IntronicSNV - 1/23 1
14-21541206-G-A c.6G>A p.E2= Synonymous 2/24 - 4
14-21541206-G-C c.6G>C p.E2D Missense 2/24 - 1
14-21541206-G-T c.6G>T p.E2D Missense 2/24 - 1
14-21541211-A-G c.11A>G p.E4G Missense 2/24 - 1
14-21541212-G-A c.12G>A p.E4= Synonymous 2/24 - 1
14-21541213-C-A c.13C>A p.P5T Missense 2/24 - 1
14-21541216-GTG-ATC c.16_18delinsATC p.V6I Missense 2/24 - 1
14-21541219-G-A c.19G>A p.E7K Missense 2/24 - 1
14-21541222-G-A c.22G>A p.D8N Missense 2/24 - 1
14-21541224-C-T c.24C>T p.D8= Synonymous 2/24 - 1
14-21541225-T-G c.25T>G p.C9G Missense 2/24 - 1
14-21541228-GTG-ATC c.28_30delinsATC p.V10I Missense 2/24 - 1
14-21541231-CAG-TGT c.31_33delinsTGT p.Q11C Missense 2/24 - 1
14-21541234-A-G c.34A>G p.S12G Missense 2/24 - 1
14-21541234-AG-GA c.34_35delinsGA p.S12D Missense 2/24 - 3
14-21541234-AG-GC c.34_35delinsGC p.S12A Missense 2/24 - 13
14-21541234-A-T c.34A>T p.S12C Missense 2/24 - 3
14-21541237-A-G c.37A>G p.T13A Missense 2/24 - 1
14-21541237-A-T c.37A>T p.T13S Missense 2/24 - 1
14-21541238-C-A c.38C>A p.T13N Missense 2/24 - 1
14-21541238-C-G c.38C>G p.T13S Missense 2/24 - 1
14-21541239-T-C c.39T>C p.T13= Synonymous 2/24 - 1
14-21541239-T-G c.39T>G p.T13= Synonymous 2/24 - 1
14-21541242-C-A c.42C>A p.L14= Synonymous 2/24 - 2
14-21541242-C-G c.42C>G p.L14= Synonymous 2/24 - 1
14-21541242-C-T c.42C>T p.L14= Synonymous 2/24 - 1
14-21541243-G-A c.43G>A p.A15T Missense 2/24 - 1
14-21541243-G-C c.43G>C p.A15P Missense 2/24 - 1
14-21541243-G-T c.43G>T p.A15S Missense 2/24 - 1
14-21541244-CC-AG c.44_45delinsAG p.A15E Missense 2/24 - 1
14-21541244-C-T c.44C>T p.A15V Missense 2/24 - 2
14-21541245-C-A c.45C>A p.A15= Synonymous 2/24 - 1
14-21541245-C-G c.45C>G p.A15= Synonymous 2/24 - 1
14-21541245-C-T c.45C>T p.A15= Synonymous 2/24 - 1
14-21541246-G-A c.46G>A p.A16T Missense 2/24 - 3
14-21541246-GCC-TAA c.46_48delinsTAA p.A16* Nonsense 2/24 - 1
14-21541246-GC-TA c.46_47delinsTA p.A16Y Missense 2/24 - 1
14-21541246-G-T c.46G>T p.A16S Missense 2/24 - 1
14-21541248-C-A c.48C>A p.A16= Synonymous 2/24 - 1
14-21541248-C-G c.48C>G p.A16= Synonymous 2/24 - 1
14-21541248-C-T c.48C>T p.A16= Synonymous 2/24 - 1
14-21541249-CT-GA c.49_50delinsGA p.L17E Missense 2/24 - 1
14-21541249-CTG-TTT c.49_51delinsTTT p.L17F Missense 2/24 - 1
14-21541255-CC-GT c.55_56delinsGT p.P19V Missense 2/24 - 1
14-21541258-C-A c.58C>A p.P20T Missense 2/24 - 1
14-21541260-C-A c.60C>A p.P20= Synonymous 2/24 - 1
14-21541260-C-G c.60C>G p.P20= Synonymous 2/24 - 1
14-21541260-C-T c.60C>T p.P20= Synonymous 2/24 - 1
14-21541261-TT-GC c.61_62delinsGC p.F21A Missense 2/24 - 1
14-21541264-G-C c.64G>C p.E22Q Missense 2/24 - 2
14-21541265-A-G c.65A>G p.E22G Missense 2/24 - 1
14-21541266-G-T c.66G>T p.E22D Missense 2/24 - 1
14-21541267-GCA-ATG c.67_69delinsATG p.A23M Missense 2/24 - 1
14-21541267-GCA-TGT c.67_69delinsTGT p.A23C Missense 2/24 - 1
14-21541267-GCA-TTT c.67_69delinsTTT p.A23F Missense 2/24 - 1
14-21541268-CA-AC c.68_69delinsAC p.A23D Missense 2/24 - 1
14-21541270-A-G c.70A>G p.T24A Missense 2/24 - 1
14-21541271-C-T c.71C>T p.T24I Missense 2/24 - 1
14-21541273-GC-TT c.73_74delinsTT p.A25F Missense 2/24 - 1
14-21541274-C-A c.74C>A p.A25D Missense 2/24 - 1
14-21541276-C-T c.76C>T p.P26S Missense 2/24 - 1
14-21541277-C-T c.77C>T p.P26L Missense 2/24 - 1
14-21541280-C-A c.80C>A p.T27N Missense 2/24 - 1
14-21541288-GGC-TGA c.88_90delinsTGA p.G30* Nonsense 2/24 - 1
14-21541290-C-G c.90C>G p.G30= Synonymous 2/24 - 1
14-21541293-G-A c.93G>A p.Q31= Synonymous 2/24 - 1
14-21541297-TT-CA c.97_98delinsCA p.F33H Missense 2/24 - 1
14-21541302-G-A c.102G>A p.Q34= Synonymous 2/24 - 1
14-21541305-G-A c.105G>A p.V35= Synonymous 2/24 - 1
14-21541305-G-C c.105G>C p.V35= Synonymous 2/24 - 1
14-21541305-G-T c.105G>T p.V35= Synonymous 2/24 - 1
14-21541312-AGG-CAT c.112_114delinsCAT p.R38H Missense 2/24 - 1
14-21541313-G-A c.113G>A p.R38K Missense 2/24 - 1
14-21541316-C-T c.116C>T p.T39I Missense 2/24 - 1
14-21541318-TA-GC c.118_119delinsGC p.Y40A Missense 2/24 - 1
14-21541319-A-T c.119A>T p.Y40F Missense 2/24 - 1
14-21541321-C-T c.121C>T p.R41W Missense 2/24 - 2
14-21541322-G-A c.122G>A p.R41Q Missense 2/24 - 4
14-21541322-GG-AT c.122_123delinsAT p.R41H Missense 2/24 - 1
14-21541324-G-T c.124G>T p.E42* Nonsense 2/24 - 1
14-21541325-A-C c.125A>C p.E42A Missense 2/24 - 1
14-21541327-G-A c.127G>A p.D43N Missense 2/24 - 2
14-21541330-G-T c.130G>T p.A44S Missense 2/24 - 1
14-21541331-C-T c.131C>T p.A44V Missense 2/24 - 1
14-21541332-A-C c.132A>C p.A44= Synonymous 2/24 - 2
14-21541332-A-G c.132A>G p.A44= Synonymous 2/24 - 2
14-21541332-A-T c.132A>T p.A44= Synonymous 2/24 - 2
14-21541336-A-G c.136A>G p.R46G Missense 2/24 - 1
14-21541336-AGG-CAT c.136_138delinsCAT p.R46H Missense 2/24 - 1
14-21541345-C-A c.145C>A p.L49M Missense 2/24 - 1
14-21541350-C-T c.150C>T p.D50= Synonymous 2/24 - 1
14-21541351-TT-GA c.151_152delinsGA p.F51D Missense 2/24 - 2
14-21541353-C-T c.153C>T p.F51= Synonymous 2/24 - 1
14-21541354-C-T c.154C>T p.L52= Synonymous 2/24 - 1
14-21541356-G-A c.156G>A p.L52= Synonymous 2/24 - 1
14-21541356-G-C c.156G>C p.L52= Synonymous 2/24 - 1
14-21541356-G-T c.156G>T p.L52= Synonymous 2/24 - 1
14-21541360-C-G c.160C>G p.P54A Missense 2/24 - 1
14-21541360-C-T c.160C>T p.P54S Missense 2/24 - 2
14-21541361-C-T c.161C>T p.P54L Missense 2/24 - 1
14-21541365-C-G c.165C>G p.A55= Synonymous 2/24 - 1
14-21541373-T-C c.173T>C p.L58P Missense 2/24 - 1
14-21541375-C-A c.175C>A p.L59I Missense 2/24 - 1
14-21541378-GC-CG c.178_179delinsCG p.A60R Missense 2/24 - 1
14-21541379-CC-AG c.179_180delinsAG p.A60E Missense 2/24 - 1
14-21541379-C-T c.179C>T p.A60V Missense 2/24 - 1
14-21541380-C-A c.180C>A p.A60= Synonymous 2/24 - 1
14-21541380-C-G c.180C>G p.A60= Synonymous 2/24 - 1
14-21541380-C-T c.180C>T p.A60= Synonymous 2/24 - 3
14-21541382-A-C c.182A>C p.K61T Missense 2/24 - 1
14-21541382-A-T c.182A>T p.K61M Missense 2/24 - 1
14-21541384-G-A c.184G>A p.V62I Missense 2/24 - 1
14-21541384-GTC-ATG c.184_186delinsATG p.V62M Missense 2/24 - 1
14-21541386-C-A c.186C>A p.V62= Synonymous 2/24 - 1
14-21541386-C-G c.186C>G p.V62= Synonymous 2/24 - 1
14-21541386-C-T c.186C>T p.V62= Synonymous 2/24 - 1
14-21541388-A-T c.188A>T p.Q63L Missense 2/24 - 1
14-21541393-G-A c.193G>A p.E65K Missense 2/24 - 1
14-21541394-A-C c.194A>C p.E65A Missense 2/24 - 1
14-21541396-G-A c.196G>A p.A66T Missense 2/24 - 1
14-21541397-C-A c.197C>A p.A66D Missense 2/24 - 1
14-21541399-T-A c.199T>A p.C67S Missense 2/24 - 1
14-21541879-C-G c.202-212C>G - IntronicSNV - 2/23 1
14-21541879-C-T c.202-212C>T - IntronicSNV - 2/23 1
14-21542002-T-A c.202-89T>A - IntronicSNV - 2/23 1
14-21542037-C-T c.202-54C>T - IntronicSNV - 2/23 5
14-21542091-GC-TG c.202_203delinsTG p.A68C Missense 3/24 - 1
14-21542093-C-A c.204C>A p.A68= Synonymous 3/24 - 1
14-21542093-C-G c.204C>G p.A68= Synonymous 3/24 - 1
14-21542093-C-T c.204C>T p.A68= Synonymous 3/24 - 1
14-21542094-C-A c.205C>A p.Q69K Missense 3/24 - 2
14-21542100-AG-CT c.211_212inv p.S71L Missense 3/24 - 1
14-21542104-G-A c.215G>A p.G72E Missense 3/24 - 1
14-21542104-G-C c.215G>C p.G72A Missense 3/24 - 2
14-21542109-C-A c.220C>A p.L74I Missense 3/24 - 1
14-21542109-C-T c.220C>T p.L74F Missense 3/24 - 1
14-21542122-A-G c.233A>G p.E78G Missense 3/24 - 2
14-21542125-G-A c.236G>A p.G79E Missense 3/24 - 1
14-21542125-GG-AC c.236_237delinsAC p.G79D Missense 3/24 - 1
14-21542126-G-T c.237G>T p.G79= Synonymous 3/24 - 1
14-21542128-G-C c.239G>C p.W80S Missense 3/24 - 1
14-21542131-C-T c.242C>T p.P81L Missense 3/24 - 1
14-21542132-G-A c.243G>A p.P81= Synonymous 3/24 - 2
14-21542132-G-C c.243G>C p.P81= Synonymous 3/24 - 1
14-21542132-G-T c.243G>T p.P81= Synonymous 3/24 - 1
14-21542138-C-T c.249C>T p.C83= Synonymous 3/24 - 1
14-21542139-C-A c.250C>A p.L84M Missense 3/24 - 1
14-21542147-A-G c.258A>G p.E86= Synonymous 3/24 - 1
14-21542154-G-A c.265G>A p.V89M Missense 3/24 - 1
14-21542154-G-C c.265G>C p.V89L Missense 3/24 - 1
14-21542154-G-T c.265G>T p.V89L Missense 3/24 - 1
14-21542154-GTG-TTT c.265_267delinsTTT p.V89F Missense 3/24 - 1
14-21542160-CA-GC c.271_272delinsGC p.Q91A Missense 3/24 - 1
14-21542160-CAG-GAC c.271_273delinsGAC p.Q91D Missense 3/24 - 2
14-21542160-CAG-TGT c.271_273delinsTGT p.Q91C Missense 3/24 - 1
14-21542160-C-G c.271C>G p.Q91E Missense 3/24 - 1
14-21542162-G-C c.273G>C p.Q91H Missense 3/24 - 2
14-21542162-G-T c.273G>T p.Q91H Missense 3/24 - 2
14-21542167-C-T c.278C>T p.A93V Missense 3/24 - 1
14-21542168-A-G c.279A>G p.A93= Synonymous 3/24 - 1
14-21542177-C-A c.288C>A p.P96= Synonymous 3/24 - 1
14-21542181-C-A c.292C>A p.Q98K Missense 3/24 - 1
14-21542183-A-C c.294A>C p.Q98H Missense 3/24 - 1
14-21542183-A-T c.294A>T p.Q98H Missense 3/24 - 1
14-21542186-G-T c.297G>T p.L99= Synonymous 3/24 - 2
14-21542188-T-A c.299T>A p.L100Q Missense 3/24 - 1
14-21542187-C-T c.298C>T p.L100= Synonymous 3/24 - 1
14-21542189-G-A c.300G>A p.L100= Synonymous 3/24 - 1
14-21542189-G-C c.300G>C p.L100= Synonymous 3/24 - 1
14-21542189-G-T c.300G>T p.L100= Synonymous 3/24 - 1
14-21542190-C-T c.301C>T p.R101C Missense 3/24 - 1
14-21542191-G-A c.302G>A p.R101H Missense 3/24 - 4
14-21542192-C-T c.303C>T p.R101= Synonymous 3/24 - 1
14-21542199-G-A c.310G>A p.D104N Missense 3/24 - 1
14-21542199-GA-AT c.310_311delinsAT p.D104I Missense 3/24 - 1
14-21542199-G-T c.310G>T p.D104Y Missense 3/24 - 1
14-21542204-TCTATCTGCA-T c.315_323del p.F105_Q108delinsL MultiAAMissense 3/24 - 1
14-21542208-C-G c.319C>G p.L107V Missense 3/24 - 1
14-21542212-A-G c.323A>G p.Q108R Missense 3/24 - 1
14-21542214-G-A c.325G>A p.V109M Missense 3/24 - 1
14-21542215-T-A c.326T>A p.V109E Missense 3/24 - 1
14-21542220-C-T c.331C>T p.P111S Missense 3/24 - 1
14-21542221-C-T c.332C>T p.P111L Missense 3/24 - 1
14-21542232-C-A c.343C>A p.Q115K Missense 3/24 - 1
14-21542232-C-G c.343C>G p.Q115E Missense 3/24 - 1
14-21542235-G-A c.346G>A p.A116T Missense 3/24 - 1
14-21542236-C-A c.347C>A p.A116E Missense 3/24 - 1
14-21542241-CG-AC c.352_353delinsAC p.R118T Missense 3/24 - 1
14-21542241-C-T c.352C>T p.R118* Nonsense 3/24 - 1
14-21542244-C-T c.355C>T p.L119= Synonymous 3/24 - 1
14-21542252-C-T c.363C>T p.L121= Synonymous 3/24 - 1
14-21542256-T-C c.367T>C p.C123R Missense 3/24 - 1
14-21542259-C-G c.370C>G p.L124V Missense 3/24 - 1
14-21542262-G-T c.373G>T p.A125S Missense 3/24 - 1
14-21542264-C-T c.375C>T p.A125= Synonymous 3/24 - 1
14-21542268-G-A c.379G>A p.G127R Missense 3/24 - 1
14-21542268-G-C c.379G>C p.G127R Missense 3/24 - 1
14-21542269-G-A c.380G>A p.G127E Missense 3/24 - 3
14-21542271-G-A c.382G>A p.G128S Missense 3/24 - 1
14-21542274-G-A c.385G>A p.G129R Missense 3/24 - 1
14-21542274-G-C c.385G>C p.G129R Missense 3/24 - 2
14-21542275-G-A c.386G>A p.G129E Missense 3/24 - 1
14-21542277-C-A c.388C>A p.R130= Synonymous 3/24 - 1
14-21542277-C-T c.388C>T p.R130W Missense 3/24 - 2
14-21542279-G-A c.390G>A p.R130= Synonymous 3/24 - 1
14-21542279-G-C c.390G>C p.R130= Synonymous 3/24 - 1
14-21542279-G-T c.390G>T p.R130= Synonymous 3/24 - 1
14-21542278-G-A c.389G>A p.R130Q Missense 3/24 - 2
14-21542278-GG-AT c.389_390delinsAT p.R130H Missense 3/24 - 1
14-21542278-G-T c.389G>T p.R130L Missense 3/24 - 2
14-21542280-G-A c.391G>A p.V131M Missense 3/24 - 2
14-21542280-G-T c.391G>T p.V131L Missense 3/24 - 1
14-21542289-G-A c.400G>A p.V134I Missense 3/24 - 1
14-21542291-T-C c.402T>C p.V134= Synonymous 3/24 - 1
14-21542295-G-A c.406G>A p.V136M Missense 3/24 - 1
14-21542302-A-G c.413A>G p.N138S Missense 3/24 - 1
14-21542304-G-A c.415G>A p.E139K Missense 3/24 - 3
14-21542308-C-A c.419C>A p.A140D Missense 3/24 - 1
14-21542308-C-T c.419C>T p.A140V Missense 3/24 - 1
14-21542310-T-C c.421T>C p.C141R Missense 3/24 - 2
14-21542314-C-T c.425C>T p.A142V Missense 3/24 - 1
14-21542316-T-C c.427T>C p.Y143H Missense 3/24 - 1
14-21542317-A-T c.428A>T p.Y143F Missense 3/24 - 2
14-21542318-C-T c.429C>T p.Y143= Synonymous 3/24 - 1
14-21542320-T-A c.431T>A p.L144Q Missense 3/24 - 1
14-21542320-T-C c.431T>C p.L144P Missense 3/24 - 1
14-21542321-A-C c.432A>C p.L144= Synonymous 3/24 - 1
14-21542326-C-T c.437C>T p.T146I Missense 3/24 - 1
14-21542327-A-C c.438A>C p.T146= Synonymous 3/24 - 1
14-21542327-A-G c.438A>G p.T146= Synonymous 3/24 - 1
14-21542327-A-T c.438A>T p.T146= Synonymous 3/24 - 1
14-21542330-T-A c.441T>A p.P147= Synonymous 3/24 - 1
14-21542330-T-C c.441T>C p.P147= Synonymous 3/24 - 1
14-21542330-T-G c.441T>G p.P147= Synonymous 3/24 - 1
14-21542331-G-A c.442G>A p.E148K Missense 3/24 - 1
14-21542331-G-C c.442G>C p.E148Q Missense 3/24 - 2
14-21542331-G-T c.442G>T p.E148* Nonsense 3/24 - 1
14-21542337-C-T c.448C>T p.L150= Synonymous 3/24 - 1
14-21542337-CTA-TTT c.448_450delinsTTT p.L150F Missense 3/24 - 1
14-21542342-A-C c.453A>C p.Q151H Missense 3/24 - 1
14-21542342-A-T c.453A>T p.Q151H Missense 3/24 - 1
14-21542344-G-C c.455G>C p.G152A Missense 3/24 - 1
14-21542347-T-C c.458T>C p.I153T Missense 3/24 - 1
14-21542348-C-T c.459C>T p.I153= Synonymous 3/24 - 1
14-21542355-G-T c.466G>T p.D156Y Missense 3/24 - 1
14-21542358-C-T c.469C>T p.R157W Missense 3/24 - 3
14-21542359-G-A c.470G>A p.R157Q Missense 3/24 - 3
14-21542360-G-T c.471G>T p.R157= Synonymous 3/24 - 1
14-21542364-A-G c.475A>G p.T159A Missense 3/24 - 1
14-21542365-C-T c.476C>T p.T159I Missense 3/24 - 1
14-21542366-A-C c.477A>C p.T159= Synonymous 3/24 - 1
14-21542366-A-G c.477A>G p.T159= Synonymous 3/24 - 1
14-21542366-A-T c.477A>T p.T159= Synonymous 3/24 - 1
14-21542366-AG-A c.479del p.G160Vfs*87 Frameshift 3/24 - 1
14-21542370-C-T c.481C>T p.R161C Missense 3/24 - 2
14-21542371-GC-AA c.482_483delinsAA p.R161Q Missense 3/24 - 1
14-21542373-C-T c.484C>T p.L162F Missense 3/24 - 1
14-21542375-C-A c.486C>A p.L162= Synonymous 3/24 - 2
14-21542375-C-G c.486C>G p.L162= Synonymous 3/24 - 2
14-21542375-C-T c.486C>T p.L162= Synonymous 3/24 - 2
14-21542379-A-G c.490A>G p.T164A Missense 3/24 - 1
14-21542388-CTG-TTT c.499_501delinsTTT p.L167F Missense 3/24 - 1
14-21542395-C-T c.506C>T p.A169V Missense 3/24 - 2
14-21542404-G-A c.515G>A p.G172E Missense 3/24 - 1
14-21542404-G-C c.515G>C p.G172A Missense 3/24 - 1
14-21542410-A-T c.521A>T p.Q174L Missense 3/24 - 1
14-21542412-C-T c.523C>T p.R175W Missense 3/24 - 1
14-21542413-G-A c.524G>A p.R175Q Missense 3/24 - 3
14-21542416-T-C c.527T>C p.L176P Missense 3/24 - 3
14-21542417-G-T c.528G>T p.L176= Synonymous 3/24 - 1
14-21542419-C-A c.530C>A p.P177H Missense 3/24 - 1
14-21542419-C-T c.530C>T p.P177L Missense 3/24 - 1
14-21542422-G-A c.533G>A p.W178* Nonsense 3/24 - 3
14-21542423-G-A c.534G>A p.W178* Nonsense 3/24 - 2
14-21542424-G-A c.535G>A p.A179T Missense 3/24 - 1
14-21542427-G-A c.538G>A p.E180K Missense 3/24 - 1
14-21542432-C-A c.543C>A p.L181= Synonymous 3/24 - 1
14-21542432-C-G c.543C>G p.L181= Synonymous 3/24 - 1
14-21542432-C-T c.543C>T p.L181= Synonymous 3/24 - 1
14-21542435-C-A c.546C>A p.I182= Synonymous 3/24 - 1
14-21542435-C-T c.546C>T p.I182= Synonymous 3/24 - 1
14-21542440-C-T c.551C>T p.P184L Missense 3/24 - 1
14-21542442-C-T c.553C>T p.R185* Nonsense 3/24 - 2
14-21542443-G-A c.554G>A p.R185Q Missense 3/24 - 1
14-21542446-T-C c.557T>C p.F186S Missense 3/24 - 1
14-21542454-A-G c.565A>G p.K189E Missense 3/24 - 1
14-21542455-A-C c.566A>C p.K189T Missense 3/24 - 1
14-21542457-G-C c.568G>C p.E190Q Missense 3/24 - 1
14-21542464-T-G c.575T>G p.L192R Missense 3/24 - 1
14-21542473-G-A c.584G>A p.G195E Missense 3/24 - 1
14-21542475-C-T c.586C>T p.H196Y Missense 3/24 - 1
14-21542476-A-G c.587A>G p.H196R Missense 3/24 - 4
14-21542484-A-G c.595A>G p.S199G Missense 3/24 - 1
14-21542484-A-T c.595A>T p.S199C Missense 3/24 - 4
14-21542485-G-A c.596G>A p.S199N Missense 3/24 - 1
14-21542495-C-G c.606C>G p.P202= Synonymous 3/24 - 1
14-21542495-C-T c.606C>T p.P202= Synonymous 3/24 - 1
14-21542497-C-G c.608C>G p.P203R Missense 3/24 - 1
14-21542499-G-A c.610G>A p.E204K Missense 3/24 - 1
14-21542500-A-T c.611A>T p.E204V Missense 3/24 - 1
14-21542505-C-T c.616C>T p.P206S Missense 3/24 - 1
14-21542509-C-T c.620C>T p.S207F Missense 3/24 - 1
14-21542511-G-A c.622G>A p.G208R Missense 3/24 - 1
14-21542511-G-C c.622G>C p.G208R Missense 3/24 - 1
14-21542514-C-T c.625C>T p.P209S Missense 3/24 - 1
14-21542517-C-T c.628C>T p.P210S Missense 3/24 - 4
14-21542518-C-T c.629C>T p.P210L Missense 3/24 - 1
14-21542513-ACCTCCAGGGCTTCCCAGC-A c.631_648del p.G211_P216del InFrameDeletion 3/24 - 1
14-21542521-G-C c.632G>C p.G211A Missense 3/24 - 1
14-21542522-G-T c.633G>T p.G211= Synonymous 3/24 - 1
14-21542527-C-G c.638C>G p.P213R Missense 3/24 - 1
14-21542533-C-T c.644C>T p.P215L Missense 3/24 - 1
14-21542535-C-A c.646C>A p.P216T Missense 3/24 - 2
14-21542540-TC-GT c.651_652delinsGT p.P218S Missense 3/24 - 1
14-21542541-C-T c.652C>T p.P218S Missense 3/24 - 6
14-21542542-C-T c.653C>T p.P218L Missense 3/24 - 2
14-21542551-C-T c.662C>T p.A221V Missense 3/24 - 3
14-21542553-C-T c.664C>T p.L222= Synonymous 3/24 - 1
14-21542555-G-A c.666G>A p.L222= Synonymous 3/24 - 1
14-21542555-G-C c.666G>C p.L222= Synonymous 3/24 - 1
14-21542555-G-T c.666G>T p.L222= Synonymous 3/24 - 1
14-21542557-G-C c.668G>C p.G223A Missense 3/24 - 1
14-21542560-C-A c.671C>A p.T224N Missense 3/24 - 1
14-21542561-CC-TT c.672_673delinsTT p.R225W Missense 3/24 - 2
14-21542562-C-T c.673C>T p.R225W Missense 3/24 - 4
14-21542563-G-A c.674G>A p.R225Q Missense 3/24 - 2
14-21542563-GG-AT c.674_675delinsAT p.R225H Missense 3/24 - 1
14-21542569-C-T c.680C>T p.P227L Missense 3/24 - 2
14-21542572-G-A c.683G>A p.G228E Missense 3/24 - 1
14-21542572-GG-AC c.683_684delinsAC p.G228D Missense 3/24 - 1
14-21542573-G-A c.684G>A p.G228= Synonymous 3/24 - 1
14-21542573-G-C c.684G>C p.G228= Synonymous 3/24 - 1
14-21542573-G-T c.684G>T p.G228= Synonymous 3/24 - 1
14-21542575-A-T c.686A>T p.D229V Missense 3/24 - 2
14-21542579-G-A c.690G>A p.G230= Synonymous 3/24 - 1
14-21542585-T-A c.696T>A p.N232K Missense 3/24 - 1
14-21542585-T-G c.696T>G p.N232K Missense 3/24 - 1
14-21542587-C-T c.698C>T p.A233V Missense 3/24 - 1
14-21542589-C-G c.700C>G p.P234A Missense 3/24 - 1
14-21542589-C-T c.700C>T p.P234S Missense 3/24 - 1
14-21542592-G-T c.703G>T p.V235L Missense 3/24 - 1
14-21542594-G-A c.705G>A p.V235= Synonymous 3/24 - 1
14-21542595-G-A c.706G>A p.E236K Missense 3/24 - 1
14-21542598-G-A c.709G>A p.G237R Missense 3/24 - 1
14-21542598-G-C c.709G>C p.G237R Missense 3/24 - 1
14-21542601-C-T c.712C>T p.P238S Missense 3/24 - 1
14-21542604-G-A c.715G>A p.E239K Missense 3/24 - 1
14-21542608-GC-AG c.719_720delinsAG p.G240E Missense 3/24 - 1
14-21542609-C-A c.720C>A p.G240= Synonymous 3/24 - 1
14-21542609-C-G c.720C>G p.G240= Synonymous 3/24 - 1
14-21542609-C-T c.720C>T p.G240= Synonymous 3/24 - 2
14-21542616-GTG-ATC c.727_729delinsATC p.V243I Missense 3/24 - 2
14-21542617-T-C c.728T>C p.V243A Missense 3/24 - 1
14-21542625-T-A c.736T>A p.L246I Missense 3/24 - 1
14-21542631-G-A c.742G>A p.V248M Missense 3/24 - 1
14-21542632-T-C c.743T>C p.V248A Missense 3/24 - 2
14-21542635-C-T c.746C>T p.T249M Missense 3/24 - 4
14-21542638-T-G c.749T>G p.L250R Missense 3/24 - 1
14-21542643-G-A c.754G>A p.V252M Missense 3/24 - 1
14-21542643-GTG-ATC c.754_756delinsATC p.V252I Missense 3/24 - 1
14-21542644-T-C c.755T>C p.V252A Missense 3/24 - 2
14-21542647-G-A c.758G>A p.R253K Missense 3/24 - 1
14-21542647-G-T c.758G>T p.R253M Missense 3/24 - 1
14-21542649-G-A c.760G>A p.G254R Missense 3/24 - 1
14-21542649-G-C c.760G>C p.G254R Missense 3/24 - 1
14-21542650-G-C c.761G>C p.G254A Missense 3/24 - 1
14-21542646-AG-A c.762del p.S255Afs*96 Frameshift 3/24 - 2
14-21542651-G-C c.762G>C p.G254= Synonymous 3/24 - 1
14-21542652-GA-G c.763del p.S255Afs*96 Frameshift 3/24 - 1
14-21542658-ACA-TGT c.769_771inv p.T257C Missense 3/24 - 1
14-21542661-G-C c.772G>C p.D258H Missense 3/24 - 1
14-21542664-G-A c.775G>A p.A259T Missense 3/24 - 2
14-21542667-G-A c.778G>A p.E260K Missense 3/24 - 1
14-21542671-G-A c.782G>A p.G261D Missense 3/24 - 1
14-21542675-C-A c.786C>A p.S262= Synonymous 3/24 - 1
14-21542675-C-G c.786C>G p.S262= Synonymous 3/24 - 1
14-21542675-C-T c.786C>T p.S262= Synonymous 3/24 - 1
14-21542677-C-T c.788C>T p.P263L Missense 3/24 - 2
14-21542679-G-A c.790G>A p.G264S Missense 3/24 - 1
14-21542679-G-C c.790G>C p.G264R Missense 3/24 - 1
14-21542682-C-T c.793C>T p.L265F Missense 3/24 - 1
14-21542685-TC-AA c.796_797delinsAA p.S266N Missense 3/24 - 1
14-21542692-T-G c.803T>G p.V268G Missense 3/24 - 1
14-21542693-C-A c.804C>A p.V268= Synonymous 3/24 - 1
14-21542693-C-G c.804C>G p.V268= Synonymous 3/24 - 1
14-21542693-C-T c.804C>T p.V268= Synonymous 3/24 - 1
14-21542694-C-G c.805C>G p.R269G Missense 3/24 - 1
14-21542694-C-T c.805C>T p.R269W Missense 3/24 - 2
14-21542695-G-A c.806G>A p.R269Q Missense 3/24 - 2
14-21542695-G-C c.806G>C p.R269P Missense 3/24 - 1
14-21542696-G-A c.807G>A p.R269= Synonymous 3/24 - 1
14-21542697-A-T c.808A>T p.T270S Missense 3/24 - 1
14-21542698-C-A c.809C>A p.T270K Missense 3/24 - 1
14-21542698-CG-TC c.809_810delinsTC p.T270I Missense 3/24 - 1
14-21542698-C-T c.809C>T p.T270M Missense 3/24 - 2
14-21542699-G-A c.810G>A p.T270= Synonymous 3/24 - 1
14-21542699-G-C c.810G>C p.T270= Synonymous 3/24 - 1
14-21542699-G-T c.810G>T p.T270= Synonymous 3/24 - 1
14-21542700-G-A c.811G>A p.V271I Missense 3/24 - 2
14-21542701-T-C c.812T>C p.V271A Missense 3/24 - 1
14-21542709-C-T c.820C>T p.R274C Missense 3/24 - 1
14-21542710-GC-AA c.821_822delinsAA p.R274Q Missense 3/24 - 2
14-21542715-GG-AC c.826_827delinsAC p.G276T Missense 3/24 - 1
14-21542717-C-A c.828C>A p.G276= Synonymous 3/24 - 1
14-21542717-C-G c.828C>G p.G276= Synonymous 3/24 - 1
14-21542717-C-T c.828C>T p.G276= Synonymous 3/24 - 3
14-21542718-G-A c.829G>A p.A277T Missense 3/24 - 2
14-21542719-C-G c.830C>G p.A277G Missense 3/24 - 1
14-21542722-G-A c.833G>A p.G278E Missense 3/24 - 1
14-21542733-C-G c.844C>G p.R282G Missense 3/24 - 1
14-21542733-C-T c.844C>T p.R282C Missense 3/24 - 2
14-21542735-C-G c.846C>G p.R282= Synonymous 3/24 - 1
14-21542740-G-A c.851G>A p.R284Q Missense 3/24 - 5
14-21542747-C-T c.858C>T p.H286= Synonymous 3/24 - 1
14-21542749-G-A c.860G>A p.R287Q Missense 3/24 - 1
14-21542751-G-A c.862G>A p.A288T Missense 3/24 - 1
14-21542752-C-T c.863C>T p.A288V Missense 3/24 - 1
14-21542753-G-A c.864G>A p.A288= Synonymous 3/24 - 16
14-21542753-G-C c.864G>C p.A288= Synonymous 3/24 - 3
14-21542753-G-T c.864G>T p.A288= Synonymous 3/24 - 3
14-21542765-G-A c.876G>A p.Q292= Synonymous 3/24 - 1
14-21542766-A-G c.877A>G p.K293E Missense 3/24 - 20
14-21542768-G-A c.879G>A p.K293= Synonymous 3/24 - 2
14-21542770-G-C c.881G>C p.G294A Missense 3/24 - 1
14-21542771-C-A c.882C>A p.G294= Synonymous 3/24 - 1
14-21542771-C-G c.882C>G p.G294= Synonymous 3/24 - 1
14-21542771-C-T c.882C>T p.G294= Synonymous 3/24 - 1
14-21542772-C-T c.883C>T p.L295= Synonymous 3/24 - 1
14-21542774-G-A c.885G>A p.L295= Synonymous 3/24 - 2
14-21542774-G-C c.885G>C p.L295= Synonymous 3/24 - 1
14-21542774-G-T c.885G>T p.L295= Synonymous 3/24 - 1
14-21542775-GGG-AGC c.886_888delinsAGC p.G296S Missense 3/24 - 1
14-21542778-C-T c.889C>T p.P297S Missense 3/24 - 2
14-21542779-C-T c.890C>T p.P297L Missense 3/24 - 2
14-21542781-C-T c.892C>T p.R298W Missense 3/24 - 2
14-21542785-G-A c.896G>A p.G299D Missense 3/24 - 1
14-21542787-CA-AC c.898_899delinsAC p.Q300T Missense 3/24 - 1
14-21542789-G-C c.900G>C p.Q300H Missense 3/24 - 1
14-21542789-G-T c.900G>T p.Q300H Missense 3/24 - 1
14-21542790-G-A c.901G>A p.D301N Missense 3/24 - 1
14-21542793-G-A c.904G>A p.G302R Missense 3/24 - 1
14-21542793-G-C c.904G>C p.G302R Missense 3/24 - 1
14-21542794-G-A c.905G>A p.G302E Missense 3/24 - 1
14-21542799-C-T c.910C>T p.R304C Missense 3/24 - 1
14-21542801-C-A c.912C>A p.R304= Synonymous 3/24 - 1
14-21542801-C-G c.912C>G p.R304= Synonymous 3/24 - 1
14-21542801-C-T c.912C>T p.R304= Synonymous 3/24 - 1
14-21542805-C-G c.916C>G p.P306A Missense 3/24 - 1
14-21542807-C-A c.918C>A p.P306= Synonymous 3/24 - 1
14-21542807-C-G c.918C>G p.P306= Synonymous 3/24 - 1
14-21542807-C-T c.918C>T p.P306= Synonymous 3/24 - 1
14-21542808-G-A c.919G>A p.G307S Missense 3/24 - 1
14-21542809-G-A c.920G>A p.G307D Missense 3/24 - 1
14-21542812-AG-A c.927del p.S310Afs*41 Frameshift 3/24 - 1
14-21542817-AG-GC c.928_929delinsGC p.S310A Missense 3/24 - 1
14-21542823-A-G c.934A>G p.T312A Missense 3/24 - 1
14-21542825-C-A c.936C>A p.T312= Synonymous 3/24 - 1
14-21542825-C-G c.936C>G p.T312= Synonymous 3/24 - 1
14-21542825-C-T c.936C>T p.T312= Synonymous 3/24 - 3
14-21542826-G-A c.937G>A p.G313R Missense 3/24 - 2
14-21542826-G-C c.937G>C p.G313R Missense 3/24 - 1
14-21542828-A-G c.939A>G p.G313= Synonymous 3/24 - 1
14-21542830-C-T c.941C>T p.A314V Missense 3/24 - 1
14-21542835-C-G c.946C>G p.P316A Missense 3/24 - 1
14-21542835-C-T c.946C>T p.P316S Missense 3/24 - 1
14-21542837-T-A c.948T>A p.P316= Synonymous 3/24 - 1
14-21542837-T-C c.948T>C p.P316= Synonymous 3/24 - 1
14-21542837-T-G c.948T>G p.P316= Synonymous 3/24 - 1
14-21542847-C-T c.958C>T p.P320S Missense 3/24 - 1
14-21542848-C-T c.959C>T p.P320L Missense 3/24 - 3
14-21542856-G-A c.967G>A p.E323K Missense 3/24 - 3
14-21542860-C-T c.971C>T p.A324V Missense 3/24 - 2
14-21542862-G-A c.973G>A p.V325I Missense 3/24 - 1
14-21542865-C-T c.976C>T p.P326S Missense 3/24 - 1
14-21542867-A-C c.978A>C p.P326= Synonymous 3/24 - 1
14-21542867-A-G c.978A>G p.P326= Synonymous 3/24 - 1
14-21542867-A-T c.978A>T p.P326= Synonymous 3/24 - 1
14-21542868-G-T c.979G>T p.E327* Nonsense 3/24 - 1
14-21542877-G-C c.988G>C p.V330L Missense 3/24 - 1
14-21542883-G-A c.994G>A p.E332K Missense 3/24 - 1
14-21542894-GC-G c.1010del p.P337Qfs*14 Frameshift 3/24 - 3
14-21542904-G-C c.1015G>C p.E339Q Missense 3/24 - 1
14-21542906-G-C c.1017G>C p.E339D Missense 3/24 - 1
14-21542906-G-T c.1017G>T p.E339D Missense 3/24 - 1
14-21542909-T-A c.1020T>A p.A340= Synonymous 3/24 - 1
14-21542909-T-C c.1020T>C p.A340= Synonymous 3/24 - 1
14-21542909-T-G c.1020T>G p.A340= Synonymous 3/24 - 1
14-21542920-C-G c.1031C>G p.A344G Missense 3/24 - 1
14-21542921-C-A c.1032C>A p.A344= Synonymous 3/24 - 1
14-21542921-C-G c.1032C>G p.A344= Synonymous 3/24 - 1
14-21542921-C-T c.1032C>T p.A344= Synonymous 3/24 - 1
14-21542925-G-A c.1036G>A p.G346R Missense 3/24 - 1
14-21542925-G-C c.1036G>C p.G346R Missense 3/24 - 1
14-21542925-GGA-AGC c.1036_1038delinsAGC p.G346S Missense 3/24 - 1
14-21542928-TC-GA c.1039_1040inv p.S347D Missense 3/24 - 1
14-21542928-T-G c.1039T>G p.S347A Missense 3/24 - 1
14-21542934-C-T c.1045C>T p.P349S Missense 3/24 - 1
14-21542936-C-T c.1047C>T p.P349= Synonymous 3/24 - 1
14-21542943-C-A c.1054C>A p.P352T Missense 3/24 - 1
14-21542955-AG-CT c.1066_1067inv p.R356L Missense 3/24 - 1
14-21542955-A-C c.1066A>C p.R356= Synonymous 3/24 - 1
14-21542957-A-G c.1068A>G p.R356= Synonymous 3/24 - 1
14-21542957-A-T c.1068A>T p.R356S Missense 3/24 - 1
14-21542964-G-T c.1075G>T p.G359* Nonsense 3/24 - 2
14-21542967-GG-AT c.1078_1079delinsAT p.G360I Missense 3/24 - 1
14-21542975-C-CGGT c.1086_1087insGGT p.G362dup InFrameInsertion 3/24 - 1
14-21542976-CA-GC c.1087_1088delinsGC p.Q363A Missense 3/24 - 1
14-21542976-C-T c.1087C>T p.Q363* Nonsense 3/24 - 1
14-21542977-A-T c.1088A>T p.Q363L Missense 3/24 - 1
14-21542979-G-T c.1090G>T p.G364W Missense 3/24 - 1
14-21542981-G-A c.1092G>A p.G364= Synonymous 3/24 - 1
14-21542981-G-C c.1092G>C p.G364= Synonymous 3/24 - 1
14-21542981-G-T c.1092G>T p.G364= Synonymous 3/24 - 1
14-21542982-G-A c.1093G>A p.A365T Missense 3/24 - 1
14-21542983-GC-G c.1094del p.A365Vfs*36 Frameshift 3/24 - 1
14-21542988-G-T c.1099G>T p.G367* Nonsense 3/24 - 1
14-21542995-C-T c.1106C>T p.P369L Missense 3/24 - 1
14-21542998-G-C c.1109G>C p.G370A Missense 3/24 - 1
14-21543002-C-A c.1113C>A p.T371= Synonymous 3/24 - 1
14-21543002-C-G c.1113C>G p.T371= Synonymous 3/24 - 1
14-21543002-C-T c.1113C>T p.T371= Synonymous 3/24 - 1
14-21543006-C-A c.1117C>A p.R373= Synonymous 3/24 - 1
14-21543006-C-T c.1117C>T p.R373W Missense 3/24 - 1
14-21543008-G-A c.1119G>A p.R373= Synonymous 3/24 - 1
14-21543008-G-C c.1119G>C p.R373= Synonymous 3/24 - 1
14-21543008-G-T c.1119G>T p.R373= Synonymous 3/24 - 1
14-21543007-G-A c.1118G>A p.R373Q Missense 3/24 - 1
14-21543009-AGA-CAT c.1120_1122delinsCAT p.R374H Missense 3/24 - 1
14-21543013-CA-TG c.1124_1125inv p.T375M Missense 3/24 - 1
14-21543013-C-T c.1124C>T p.T375I Missense 3/24 - 1
14-21543014-A-C c.1125A>C p.T375= Synonymous 3/24 - 1
14-21543014-A-G c.1125A>G p.T375= Synonymous 3/24 - 1
14-21543014-A-T c.1125A>T p.T375= Synonymous 3/24 - 1
14-21543016-G-A c.1127G>A p.G376D Missense 3/24 - 1
14-21543017-C-G c.1128C>G p.G376= Synonymous 3/24 - 1
14-21543022-G-T c.1133G>T p.G378V Missense 3/24 - 2
14-21543031-G-A c.1142G>A p.R381K Missense 3/24 - 3
14-21543035-G-C c.1146G>C p.K382N Missense 3/24 - 4
14-21543035-G-T c.1146G>T p.K382N Missense 3/24 - 3
14-21543036-A-G c.1147A>G p.K383E Missense 3/24 - 1
14-21543039-C-T c.1150C>T p.R384* Nonsense 3/24 - 1
14-21543042-G-A c.1153G>A p.A385T Missense 3/24 - 1
14-21543048-G-A c.1159G>A p.G387S Missense 3/24 - 1
14-21543049-G-C c.1160G>C p.G387A Missense 3/24 - 1
14-21543050-T-A c.1161T>A p.G387= Synonymous 3/24 - 1
14-21543050-T-C c.1161T>C p.G387= Synonymous 3/24 - 1
14-21543050-T-G c.1161T>G p.G387= Synonymous 3/24 - 1
14-21543052-G-A c.1163G>A p.R388Q Missense 3/24 - 1
14-21543066-C-G c.1177C>G p.R393G Missense 3/24 - 1
14-21543067-G-C c.1178G>C p.R393P Missense 3/24 - 1
14-21543067-G-T c.1178G>T p.R393L Missense 3/24 - 4
14-21543073-G-A c.1184G>A p.G395E Missense 3/24 - 1
14-21543075-G-T c.1186G>T p.D396Y Missense 3/24 - 3
14-21543081-G-A c.1192G>A p.A398T Missense 3/24 - 1
14-21543083-C-A c.1194C>A p.A398= Synonymous 3/24 - 1
14-21543083-C-G c.1194C>G p.A398= Synonymous 3/24 - 1
14-21543083-C-T c.1194C>T p.A398= Synonymous 3/24 - 1
14-21543087-C-G c.1198C>G p.L400V Missense 3/24 - 1
14-21543088-T-C c.1199T>C p.L400P Missense 3/24 - 2
14-21543093-C-T c.1204C>T p.P402S Missense 3/24 - 5
14-21543094-C-T c.1205C>T p.P402L Missense 3/24 - 3
14-21543122-A-G c.1233A>G p.Q411= Synonymous 3/24 - 1
14-21543146-A-C c.1257A>C p.S419= Synonymous 3/24 - 1
14-21543146-A-G c.1257A>G p.S419= Synonymous 3/24 - 1
14-21543146-A-T c.1257A>T p.S419= Synonymous 3/24 - 1
14-21543148-C-T c.1259C>T p.P420L Missense 3/24 - 1
14-21543154-A-G c.1265A>G p.E422G Missense 3/24 - 1
14-21543155-G-A c.1266G>A p.E422= Synonymous 3/24 - 1
14-21543156-C-T c.1267C>T p.H423Y Missense 3/24 - 1
14-21543160-A-C c.1271A>C p.K424T Missense 3/24 - 1
14-21543162-C-T c.1273C>T p.L425F Missense 3/24 - 1
14-21543170-A-C c.1281A>C p.E427D Missense 3/24 - 1
14-21543170-A-T c.1281A>T p.E427D Missense 3/24 - 1
14-21543171-TG-AC c.1282_1283delinsAC p.C428T Missense 3/24 - 1
14-21543173-C-T c.1284C>T p.C428= Synonymous 3/24 - 1
14-21543193-A-G c.1304A>G p.Y435C Missense 3/24 - 1
14-21543197-A-C c.1308A>C p.E436D Missense 3/24 - 1
14-21543197-A-T c.1308A>T p.E436D Missense 3/24 - 1
14-21543199-G-C c.1310G>C p.G437A Missense 3/24 - 1
14-21543202-CA-TT c.1313_1314delinsTT p.S438F Missense 3/24 - 1
14-21543204-G-A c.1315G>A p.G439R Missense 3/24 - 1
14-21543205-G-T c.1316G>T p.G439V Missense 3/24 - 1
14-21543206-G-A c.1317G>A p.G439= Synonymous 3/24 - 1
14-21543206-G-C c.1317G>C p.G439= Synonymous 3/24 - 1
14-21543206-G-T c.1317G>T p.G439= Synonymous 3/24 - 1
14-21543216-TC-CT c.1327_1328delinsCT p.S443L Missense 3/24 - 1
14-21543217-C-A c.1328C>A p.S443Y Missense 3/24 - 1
14-21543228-G-C c.1339G>C p.E447Q Missense 3/24 - 1
14-21543229-A-G c.1340A>G p.E447G Missense 3/24 - 1
14-21543238-CA-TG c.1349_1350inv p.T450M Missense 3/24 - 1
14-21543241-C-T c.1352C>T p.A451V Missense 3/24 - 1
14-21543247-A-G c.1358A>G p.E453G Missense 3/24 - 2
14-21543251-A-C c.1362A>C p.K454N Missense 3/24 - 1
14-21543267-G-A c.1378G>A p.E460K Missense 3/24 - 1
14-21543268-A-C c.1379A>C p.E460A Missense 3/24 - 1
14-21543269-A-G c.1380A>G p.E460= Synonymous 3/24 - 1
14-21543272-C-T c.1383C>T p.A461= Synonymous 3/24 - 2
14-21543274-G-T c.1385G>T p.C462F Missense 3/24 - 1
14-21543275-T-C c.1386T>C p.C462= Synonymous 3/24 - 1
14-21543279-C-G c.1390C>G p.P464A Missense 3/24 - 1
14-21543280-C-G c.1391C>G p.P464R Missense 3/24 - 1
14-21543285-G-C c.1396G>C p.E466Q Missense 3/24 - 1
14-21543289-A-C c.1400A>C p.E467A Missense 3/24 - 1
14-21543290-G-C c.1401G>C p.E467D Missense 3/24 - 1
14-21543291-G-A c.1402G>A p.G468R Missense 3/24 - 1
14-21543295-C-T c.1406C>T p.A469V Missense 3/24 - 1
14-21543297-G-A c.1408G>A p.G470R Missense 3/24 - 1
14-21543297-G-T c.1408G>T p.G470* Nonsense 3/24 - 3
14-21543298-G-C c.1409G>C p.G470A Missense 3/24 - 1
14-21543303-AG-GC c.1414_1415delinsGC p.R472A Missense 3/24 - 1
14-21543303-A-C c.1414A>C p.R472= Synonymous 3/24 - 1
14-21543305-A-G c.1416A>G p.R472= Synonymous 3/24 - 1
14-21543310-T-C c.1421T>C p.L474P Missense 3/24 - 3
14-21543319-C-T c.1430C>T p.P477L Missense 3/24 - 1
14-21543321-G-A c.1432G>A p.G478S Missense 3/24 - 1
14-21543322-G-A c.1433G>A p.G478D Missense 3/24 - 1
14-21543326-G-C c.1437G>C p.L479= Synonymous 3/24 - 1
14-21543327-C-A c.1438C>A p.L480M Missense 3/24 - 1
14-21543327-C-T c.1438C>T p.L480= Synonymous 3/24 - 1
14-21543329-G-A c.1440G>A p.L480= Synonymous 3/24 - 2
14-21543330-TG-AC c.1441_1442delinsAC p.C481T Missense 3/24 - 1
14-21543331-G-A c.1442G>A p.C481Y Missense 3/24 - 1
14-21543341-T-G c.1450+2T>G - IntronicSNV - 3/23 1
14-21543364-A-G c.1450+25A>G - IntronicSNV - 3/23 1
14-21543364-A-T c.1450+25A>T - IntronicSNV - 3/23 1
14-21543491-G-A c.1451G>A p.G484E Missense 4/24 - 1
14-21543499-G-C c.1459G>C p.G487R Missense 4/24 - 1
14-21543500-G-C c.1460G>C p.G487A Missense 4/24 - 2
14-21543511-C-T c.1471C>T p.P491S Missense 4/24 - 3
14-21543514-C-T c.1474C>T p.L492= Synonymous 4/24 - 2
14-21543517-T-G c.1477T>G p.S493A Missense 4/24 - 1
14-21543526-C-G c.1486C>G p.P496A Missense 4/24 - 2
14-21543530-C-T c.1490C>T p.T497I Missense 4/24 - 1
14-21543531-A-C c.1491A>C p.T497= Synonymous 4/24 - 1
14-21543531-A-G c.1491A>G p.T497= Synonymous 4/24 - 1
14-21543531-A-T c.1491A>T p.T497= Synonymous 4/24 - 1
14-21543544-A-G c.1504A>G p.T502A Missense 4/24 - 1
14-21543564-G-A c.1524G>A p.G508= Synonymous 4/24 - 1
14-21543565-G-C c.1525G>C p.D509H Missense 4/24 - 1
14-21543585-C-T c.1545C>T p.A515= Synonymous 4/24 - 2
14-21543592-G-A c.1552G>A p.V518I Missense 4/24 - 1
14-21543593-T-C c.1553T>C p.V518A Missense 4/24 - 1
14-21543594-C-A c.1554C>A p.V518= Synonymous 4/24 - 1
14-21543594-C-G c.1554C>G p.V518= Synonymous 4/24 - 1
14-21543594-C-T c.1554C>T p.V518= Synonymous 4/24 - 1
14-21543595-T-C c.1555T>C p.S519P Missense 4/24 - 2
14-21543597-C-T c.1557C>T p.S519= Synonymous 4/24 - 1
14-21543598-G-A c.1558G>A p.V520I Missense 4/24 - 1
14-21543598-GTC-ATG c.1558_1560delinsATG p.V520M Missense 4/24 - 1
14-21543599-T-C c.1559T>C p.V520A Missense 4/24 - 1
14-21543604-G-T c.1564G>T p.D522Y Missense 4/24 - 1
14-21543610-C-A c.1570C>A p.P524T Missense 4/24 - 4
14-21543610-C-G c.1570C>G p.P524A Missense 4/24 - 1
14-21543610-C-T c.1570C>T p.P524S Missense 4/24 - 2
14-21543619-G-C c.1579G>C p.A527P Missense 4/24 - 1
14-21543620-C-T c.1580C>T p.A527V Missense 4/24 - 1
14-21543623-G-A c.1583G>A p.W528* Nonsense 4/24 - 1
14-21543624-G-A c.1584G>A p.W528* Nonsense 4/24 - 3
14-21543625-G-A c.1585G>A p.D529N Missense 4/24 - 1
14-21543630-G-C c.1590G>C p.L530F Missense 4/24 - 1
14-21543638-C-T c.1598C>T p.S533F Missense 4/24 - 1
14-21543641-G-A c.1601G>A p.G534E Missense 4/24 - 1
14-21543646-C-T c.1606C>T p.L536F Missense 4/24 - 1
14-21543646-CTC-ATG c.1606_1608delinsATG p.L536M Missense 4/24 - 1
14-21543656-C-T c.1616C>T p.T539M Missense 4/24 - 1
14-21543681-A-G c.1618+23A>G - IntronicSNV - 4/23 1
14-21543723-G-A c.1618+65G>A - IntronicSNV - 4/23 1
14-21543804-G-A c.1619G>A p.G540E Missense 5/24 - 2
14-21543807-G-C c.1622G>C p.G541A Missense 5/24 - 1
14-21543807-GGGT-G c.1625_1627del p.V542del InFrameDeletion 5/24 - 1
14-21543816-A-T c.1631A>T p.Q544L Missense 5/24 - 1
14-21543818-AG-CC c.1633_1634delinsCC p.S545P Missense 5/24 - 1
14-21543824-CGA-TGT c.1639_1641delinsTGT p.R547C Missense 5/24 - 3
14-21543824-C-T c.1639C>T p.R547* Nonsense 5/24 - 1
14-21543827-G-A c.1642G>A p.A548T Missense 5/24 - 1
14-21543833-C-T c.1648C>T p.L550= Synonymous 5/24 - 1
14-21543846-CA-AT c.1661_1662delinsAT p.P554H Missense 5/24 - 1
14-21543849-C-T c.1664C>T p.P555L Missense 5/24 - 3
14-21543854-C-T c.1669C>T p.P557S Missense 5/24 - 2
14-21543855-C-T c.1670C>T p.P557L Missense 5/24 - 1
14-21543860-G-A c.1675G>A p.E559K Missense 5/24 - 4
14-21543860-G-C c.1675G>C p.E559Q Missense 5/24 - 1
14-21543863-G-C c.1678G>C p.E560Q Missense 5/24 - 1
14-21543867-C-G c.1682C>G p.P561R Missense 5/24 - 1
14-21543870-C-A c.1685C>A p.P562Q Missense 5/24 - 1
14-21543871-A-C c.1686A>C p.P562= Synonymous 5/24 - 1
14-21543871-A-G c.1686A>G p.P562= Synonymous 5/24 - 1
14-21543871-A-T c.1686A>T p.P562= Synonymous 5/24 - 1
14-21543872-CC-TT c.1687_1688delinsTT p.P563F Missense 5/24 - 1
14-21543872-C-T c.1687C>T p.P563S Missense 5/24 - 1
14-21543873-C-A c.1688C>A p.P563H Missense 5/24 - 1
14-21543873-C-T c.1688C>T p.P563L Missense 5/24 - 2
14-21543874-C-A c.1689C>A p.P563= Synonymous 5/24 - 1
14-21543874-C-G c.1689C>G p.P563= Synonymous 5/24 - 1
14-21543874-C-T c.1689C>T p.P563= Synonymous 5/24 - 1
14-21543879-G-A c.1694G>A p.R565Q Missense 5/24 - 2
14-21543881-G-A c.1696G>A p.D566N Missense 5/24 - 2
14-21543882-A-C c.1697A>C p.D566A Missense 5/24 - 1
14-21543884-A-G c.1699A>G p.T567A Missense 5/24 - 1
14-21543885-CG-TC c.1700_1701delinsTC p.T567I Missense 5/24 - 1
14-21543885-C-T c.1700C>T p.T567M Missense 5/24 - 7
14-21543886-G-A c.1701G>A p.T567= Synonymous 5/24 - 1
14-21543886-G-C c.1701G>C p.T567= Synonymous 5/24 - 1
14-21543886-G-T c.1701G>T p.T567= Synonymous 5/24 - 1
14-21543898-T-A c.1713T>A p.T571= Synonymous 5/24 - 2
14-21543930-C-T c.1739+6C>T - IntronicSNV - 5/23 1
14-21544056-C-T c.1739+132C>T - IntronicSNV - 5/23 6
14-21544274-T-C c.1740-245T>C - IntronicSNV - 5/23 2
14-21544343-T-C c.1740-176T>C - IntronicSNV - 5/23 1
14-21544397-C-T c.1740-122C>T - IntronicSNV - 5/23 1
14-21544536-T-C c.1757T>C p.L586P Missense 6/24 - 1
14-21544546-C-T c.1767C>T p.S589= Synonymous 6/24 - 1
14-21544550-C-T c.1771C>T p.L591= Synonymous 6/24 - 2
14-21544552-G-A c.1773G>A p.L591= Synonymous 6/24 - 1
14-21544552-G-C c.1773G>C p.L591= Synonymous 6/24 - 1
14-21544552-G-T c.1773G>T p.L591= Synonymous 6/24 - 1
14-21544562-C-T c.1783C>T p.R595C Missense 6/24 - 1
14-21544563-G-T c.1784G>T p.R595L Missense 6/24 - 1
14-21544565-C-T c.1786C>T p.Q596* Nonsense 6/24 - 1
14-21544577-C-T c.1798C>T p.L600= Synonymous 6/24 - 1
14-21544579-TG-T c.1800del p.P601Lfs*8 Frameshift 6/24 - 1
14-21544584-C-T c.1805C>T p.P602L Missense 6/24 - 1
14-21544586-G-A c.1807G>A p.A603T Missense 6/24 - 1
14-21544595-C-T c.1816C>T p.P606S Missense 6/24 - 2
14-21544606-C-A c.1827C>A p.S609R Missense 6/24 - 1
14-21544607-C-T c.1828C>T p.Q610* Nonsense 6/24 - 1
14-21544721-G-A c.1837-1G>A - IntronicSNV - 6/23 1
14-21544722-G-A c.1837G>A p.D613N Missense 7/24 - 2
14-21544728-GGA-AGC c.1843_1845delinsAGC p.G615S Missense 7/24 - 1
14-21544731-G-A c.1846G>A p.D616N Missense 7/24 - 1
14-21544734-C-T c.1849C>T p.P617S Missense 7/24 - 1
14-21544735-C-T c.1850C>T p.P617L Missense 7/24 - 2
14-21544737-C-T c.1852C>T p.P618S Missense 7/24 - 2
14-21544739-C-A c.1854C>A p.P618= Synonymous 7/24 - 1
14-21544739-C-G c.1854C>G p.P618= Synonymous 7/24 - 3
14-21544739-C-T c.1854C>T p.P618= Synonymous 7/24 - 3
14-21544746-C-G c.1861C>G p.Q621E Missense 7/24 - 1
14-21544750-G-A c.1865G>A p.R622Q Missense 7/24 - 2
14-21544752-C-T c.1867C>T p.L623= Synonymous 7/24 - 1
14-21544753-T-C c.1868T>C p.L623P Missense 7/24 - 1
14-21544764-A-G c.1879A>G p.I627V Missense 7/24 - 1
14-21544766-T-G c.1881T>G p.I627M Missense 7/24 - 1
14-21544776-C-A c.1891C>A p.L631I Missense 7/24 - 2
14-21544777-T-G c.1892T>G p.L631R Missense 7/24 - 1
14-21544790-CTG-C c.1908_1909del p.C636Wfs*6 Frameshift 7/24 - 1
14-21544799-T-G c.1914T>G p.F638L Missense 7/24 - 1
14-21544842-T-TG c.1917+44dup - IntronicInsertion - 7/23 10
14-21544860-C-T c.1917+58C>T - IntronicSNV - 7/23 1
14-21544934-GT-AG c.1919_1920delinsAG p.G640E Missense 8/24 - 1
14-21544936-G-C c.1921G>C p.A641P Missense 8/24 - 1
14-21544937-C-T c.1922C>T p.A641V Missense 8/24 - 2
14-21544941-G-C c.1926G>C p.E642D Missense 8/24 - 1
14-21544941-G-T c.1926G>T p.E642D Missense 8/24 - 1
14-21544942-G-A c.1927G>A p.V643M Missense 8/24 - 2
14-21544955-A-G c.1940A>G p.N647S Missense 8/24 - 4
14-21544957-G-T c.1942G>T p.D648Y Missense 8/24 - 2
14-21544961-T-C c.1946T>C p.L649P Missense 8/24 - 1
14-21544960-C-T c.1945C>T p.L649= Synonymous 8/24 - 1
14-21544962-G-A c.1947G>A p.L649= Synonymous 8/24 - 1
14-21544962-G-C c.1947G>C p.L649= Synonymous 8/24 - 1
14-21544962-G-T c.1947G>T p.L649= Synonymous 8/24 - 2
14-21544967-G-A c.1952G>A p.R651K Missense 8/24 - 2
14-21544978-C-G c.1963C>G p.P655A Missense 8/24 - 2
14-21544981-G-C c.1966G>C p.E656Q Missense 8/24 - 1
14-21544983-G-C c.1968G>C p.E656D Missense 8/24 - 1
14-21544983-G-T c.1968G>T p.E656D Missense 8/24 - 1
14-21544986-G-C c.1971G>C p.E657D Missense 8/24 - 1
14-21544988-TGCA-T c.1975_1977del p.Q659del InFrameDeletion 8/24 - 1
14-21544998-G-C c.1983G>C p.E661D Missense 8/24 - 1
14-21545008-C-A c.1993C>A p.H665N Missense 8/24 - 1
14-21545013-G-A c.1998G>A p.R666= Synonymous 8/24 - 1
14-21545015-A-C c.2000A>C p.D667A Missense 8/24 - 1
14-21545021-C-T c.2006C>T p.S669F Missense 8/24 - 1
14-21545026-A-T c.2011A>T p.S671C Missense 8/24 - 1
14-21545033-G-A c.2018G>A p.W673* Nonsense 8/24 - 1
14-21545045-A-G c.2030A>G p.H677R Missense 8/24 - 1
14-21545366-C-T c.2034+317C>T - IntronicSNV - 8/23 1
14-21546339-G-A c.2038G>A p.V680M Missense 9/24 - 1
14-21546345-AG-CA c.2044_2045delinsCA p.R682Q Missense 9/24 - 1
14-21546346-G-A c.2045G>A p.R682K Missense 9/24 - 1
14-21546354-C-T c.2053C>T p.R685C Missense 9/24 - 10
14-21546355-G-A c.2054G>A p.R685H Missense 9/24 - 3
14-21546356-C-A c.2055C>A p.R685= Synonymous 9/24 - 1
14-21546356-C-G c.2055C>G p.R685= Synonymous 9/24 - 1
14-21546356-C-T c.2055C>T p.R685= Synonymous 9/24 - 1
14-21546362-C-G c.2061C>G p.C687W Missense 9/24 - 1
14-21546364-A-G c.2063A>G p.Q688R Missense 9/24 - 1
14-21546372-C-A c.2071C>A p.L691M Missense 9/24 - 1
14-21546372-C-G c.2071C>G p.L691V Missense 9/24 - 1
14-21546372-C-T c.2071C>T p.L691= Synonymous 9/24 - 1
14-21546374-G-A c.2073G>A p.L691= Synonymous 9/24 - 1
14-21546374-G-C c.2073G>C p.L691= Synonymous 9/24 - 1
14-21546374-G-T c.2073G>T p.L691= Synonymous 9/24 - 1
14-21546376-G-A c.2075G>A p.G692D Missense 9/24 - 1
14-21546376-G-C c.2075G>C p.G692A Missense 9/24 - 1
14-21546377-C-T c.2076C>T p.G692= Synonymous 9/24 - 1
14-21546384-C-A c.2083C>A p.R695= Synonymous 9/24 - 1
14-21546384-C-T c.2083C>T p.R695W Missense 9/24 - 1
14-21546386-G-A c.2085G>A p.R695= Synonymous 9/24 - 1
14-21546386-G-C c.2085G>C p.R695= Synonymous 9/24 - 1
14-21546385-G-A c.2084G>A p.R695Q Missense 9/24 - 2
14-21546385-G-T c.2084G>T p.R695L Missense 9/24 - 1
14-21546386-G-T c.2085G>T p.R695= Synonymous 9/24 - 2
14-21546399-G-T c.2098G>T p.E700* Nonsense 9/24 - 1
14-21546401-G-T c.2100G>T p.E700D Missense 9/24 - 1
14-21546418-A-G c.2117A>G p.E706G Missense 9/24 - 1
14-21546426-G-A c.2125G>A p.E709K Missense 9/24 - 1
14-21546437-A-G c.2130+6A>G - IntronicSNV - 9/23 2
14-21546541-G-A c.2140G>A p.G714R Missense 10/24 - 1
14-21546541-G-C c.2140G>C p.G714R Missense 10/24 - 1
14-21546547-C-T c.2146C>T p.P716S Missense 10/24 - 5
14-21546552-G-A c.2151G>A p.K717= Synonymous 10/24 - 1
14-21546566-T-A c.2165T>A p.V722E Missense 10/24 - 1
14-21546567-G-GC c.2167dup p.L723Pfs*108 Frameshift 10/24 - 1
14-21546571-G-C c.2170G>C p.A724P Missense 10/24 - 1
14-21546577-C-T c.2176C>T p.P726S Missense 10/24 - 2
14-21546578-C-A c.2177C>A p.P726H Missense 10/24 - 1
14-21546581-G-A c.2180G>A p.R727Q Missense 10/24 - 1
14-21546581-GG-AT c.2180_2181delinsAT p.R727H Missense 10/24 - 1
14-21546583-C-T c.2182C>T p.L728= Synonymous 10/24 - 2
14-21546585-G-A c.2184G>A p.L728= Synonymous 10/24 - 2
14-21546585-G-C c.2184G>C p.L728= Synonymous 10/24 - 2
14-21546585-G-T c.2184G>T p.L728= Synonymous 10/24 - 2
14-21546590-C-G c.2189C>G p.A730G Missense 10/24 - 1
14-21546592-C-G c.2191C>G p.L731V Missense 10/24 - 3
14-21546598-AG-CA c.2197_2198delinsCA p.R733Q Missense 10/24 - 1
14-21546598-AGG-TGT c.2197_2199delinsTGT p.R733C Missense 10/24 - 1
14-21546603-T-A c.2202T>A p.D734E Missense 10/24 - 1
14-21546603-T-G c.2202T>G p.D734E Missense 10/24 - 4
14-21546605-GG-AC c.2204_2205delinsAC p.G735D Missense 10/24 - 1
14-21546606-G-A c.2205G>A p.G735= Synonymous 10/24 - 2
14-21546608-G-A c.2207G>A p.G736E Missense 10/24 - 1
14-21546608-G-C c.2207G>C p.G736A Missense 10/24 - 1
14-21546603-TG-T c.2209del p.A737Pfs*3 Frameshift 10/24 - 4
14-21546603-T-TG c.2209dup p.A737Gfs*94 Frameshift 10/24 - 2
14-21546609-G-GGGT c.2209_2210insGTG p.G736dup InFrameInsertion 10/24 - 1
14-21546611-C-G c.2210C>G p.A737G Missense 10/24 - 2
14-21546616-C-T c.2215C>T p.L739= Synonymous 10/24 - 1
14-21546624-G-A c.2223G>A p.R741= Synonymous 10/24 - 2
14-21546629-G-A c.2228G>A p.R743H Missense 10/24 - 3
14-21546633-C-A c.2232C>A p.S744= Synonymous 10/24 - 1
14-21546633-C-G c.2232C>G p.S744= Synonymous 10/24 - 1
14-21546633-C-T c.2232C>T p.S744= Synonymous 10/24 - 1
14-21546635-C-T c.2234C>T p.T745I Missense 10/24 - 2
14-21546638-C-T c.2237C>T p.P746L Missense 10/24 - 1
14-21546641-G-A c.2240G>A p.S747N Missense 10/24 - 2
14-21546648-G-A c.2246+1G>A - IntronicSNV - 10/23 1
14-21546652-G-A c.2246+5G>A - IntronicSNV - 10/23 1
14-21546653-A-G c.2246+6A>G - IntronicSNV - 10/23 1
14-21547044-C-A c.2248C>A p.L750M Missense 11/24 - 1
14-21547050-G-A c.2254G>A p.G752S Missense 11/24 - 1
14-21547053-C-T c.2257C>T p.Q753* Nonsense 11/24 - 1
14-21547077-G-A c.2281G>A p.E761K Missense 11/24 - 1
14-21547081-T-A c.2285T>A p.V762E Missense 11/24 - 1
14-21547086-G-A c.2290G>A p.E764K Missense 11/24 - 1
14-21547088-G-C c.2292G>C p.E764D Missense 11/24 - 1
14-21547088-G-T c.2292G>T p.E764D Missense 11/24 - 1
14-21547096-A-C c.2300A>C p.H767P Missense 11/24 - 1
14-21547104-GTG-ATC c.2308_2310delinsATC p.V770I Missense 11/24 - 1
14-21547113-T-A c.2317T>A p.S773T Missense 11/24 - 1
14-21547122-C-A c.2326C>A p.H776N Missense 11/24 - 4
14-21547123-A-T c.2327A>T p.H776L Missense 11/24 - 1
14-21547125-G-A c.2329G>A p.V777M Missense 11/24 - 1
14-21547125-G-T c.2329G>T p.V777L Missense 11/24 - 1
14-21547127-G-C c.2331G>C p.V777= Synonymous 11/24 - 1
14-21547127-G-T c.2331G>T p.V777= Synonymous 11/24 - 1
14-21547129-A-T c.2333A>T p.Q778L Missense 11/24 - 1
14-21547132-A-T c.2336A>T p.Q779L Missense 11/24 - 1
14-21547143-C-T c.2347C>T p.R783W Missense 11/24 - 2
14-21547144-G-A c.2348G>A p.R783Q Missense 11/24 - 2
14-21547144-G-T c.2348G>T p.R783L Missense 11/24 - 2
14-21547156-G-A c.2360G>A p.R787Q Missense 11/24 - 2
14-21547167-C-A c.2371C>A p.Q791K Missense 11/24 - 1
14-21547204-C-G c.2373+35C>G - IntronicSNV - 11/23 1
14-21547204-C-T c.2373+35C>T - IntronicSNV - 11/23 1
14-21547371-T-C c.2373+202T>C - IntronicSNV - 11/23 1
14-21548817-A-G c.2374-2A>G - IntronicSNV - 11/23 1
14-21548827-G-C c.2382G>C p.Q794H Missense 12/24 - 1
14-21548835-C-T c.2390C>T p.S797L Missense 12/24 - 3
14-21548836-G-A c.2391G>A p.S797= Synonymous 12/24 - 1
14-21548836-G-C c.2391G>C p.S797= Synonymous 12/24 - 1
14-21548836-G-T c.2391G>T p.S797= Synonymous 12/24 - 1
14-21548838-G-T c.2393G>T p.G798V Missense 12/24 - 2
14-21548840-C-T c.2395C>T p.P799S Missense 12/24 - 1
14-21548843-G-A c.2398G>A p.G800R Missense 12/24 - 2
14-21548855-C-T c.2410C>T p.L804= Synonymous 12/24 - 1
14-21548857-G-A c.2412G>A p.L804= Synonymous 12/24 - 1
14-21548857-G-C c.2412G>C p.L804= Synonymous 12/24 - 1
14-21548857-G-T c.2412G>T p.L804= Synonymous 12/24 - 1
14-21548858-G-A c.2413G>A p.A805T Missense 12/24 - 3
14-21548862-G-C c.2417G>C p.S806T Missense 12/24 - 1
14-21548864-T-C c.2419T>C p.F807L Missense 12/24 - 1
14-21548870-AT-TA c.2425_2426delinsTA p.M809* Nonsense 12/24 - 1
14-21548877-G-T c.2432G>T p.G811V Missense 12/24 - 1
14-21548879-G-T c.2434G>T p.D812Y Missense 12/24 - 3
14-21548885-T-C c.2440T>C p.L814= Synonymous 12/24 - 1
14-21548887-G-A c.2442G>A p.L814= Synonymous 12/24 - 1
14-21548899-G-A c.2454G>A p.Q818= Synonymous 12/24 - 1
14-21548900-G-A c.2455G>A p.E819K Missense 12/24 - 1
14-21548902-G-A c.2457G>A p.E819= Synonymous 12/24 - 1
14-21548902-G-C c.2457G>C p.E819D Missense 12/24 - 1
14-21548905-A-G c.2460A>G p.T820= Synonymous 12/24 - 1
14-21548906-G-T c.2461G>T p.E821* Nonsense 12/24 - 1
14-21548904-CAG-C c.2462_2463del p.E821Afs*9 Frameshift 12/24 - 1
14-21548913-G-A c.2468G>A p.R823Q Missense 12/24 - 4
14-21548918-C-T c.2473C>T p.R825C Missense 12/24 - 3
14-21548922-C-T c.2477C>T p.A826V Missense 12/24 - 1
14-21548924-T-C c.2479T>C p.F827L Missense 12/24 - 1
14-21548926-C-A c.2481C>A p.F827L Missense 12/24 - 1
14-21548926-C-G c.2481C>G p.F827L Missense 12/24 - 1
14-21548930-G-A c.2485G>A p.A829T Missense 12/24 - 4
14-21548933-G-A c.2488G>A p.E830K Missense 12/24 - 1
14-21548938-CCAGGTGAGAAGGGGCTGGAGGG-C c.2496+7_2496+28del - IntronicDeletion - 12/23 1
14-21549033-A-G c.2498A>G p.E833G Missense 13/24 - 1
14-21549035-C-T c.2500C>T p.R834C Missense 13/24 - 5
14-21549050-C-T c.2515C>T p.R839W Missense 13/24 - 1
14-21549051-G-A c.2516G>A p.R839Q Missense 13/24 - 1
14-21549055-G-T c.2520G>T p.E840D Missense 13/24 - 1
14-21549056-G-T c.2521G>T p.A841S Missense 13/24 - 1
14-21549057-C-T c.2522C>T p.A841V Missense 13/24 - 1
14-21549056-GC-G c.2524del p.L842Wfs*107 Frameshift 13/24 - 1
14-21549084-C-T c.2549C>T p.S850F Missense 13/24 - 1
14-21549086-C-A c.2551C>A p.Q851K Missense 13/24 - 1
14-21549088-G-A c.2553G>A p.Q851= Synonymous 13/24 - 1
14-21549093-T-A c.2558T>A p.V853E Missense 13/24 - 1
14-21549099-A-T c.2564A>T p.D855V Missense 13/24 - 1
14-21549112-G-A c.2577G>A p.Q859= Synonymous 13/24 - 5
14-21549113-C-T c.2578C>T p.R860W Missense 13/24 - 1
14-21549115-G-A c.2580G>A p.R860= Synonymous 13/24 - 1
14-21549125-G-T c.2590G>T p.V864F Missense 13/24 - 1
14-21549128-GA-TC c.2593_2594inv p.E865S Missense 13/24 - 1
14-21549134-G-A c.2599G>A p.G867S Missense 13/24 - 1
14-21549137-C-T c.2602C>T p.L868F Missense 13/24 - 3
14-21549144-G-A c.2609G>A p.R870Q Missense 13/24 - 2
14-21549144-G-T c.2609G>T p.R870L Missense 13/24 - 1
14-21549146-G-A c.2611G>A p.A871T Missense 13/24 - 2
14-21549146-G-C c.2611G>C p.A871P Missense 13/24 - 1
14-21549152-C-T c.2617C>T p.R873W Missense 13/24 - 5
14-21549153-G-A c.2618G>A p.R873Q Missense 13/24 - 1
14-21549161-C-A c.2626C>A p.R876S Missense 13/24 - 1
14-21549161-C-T c.2626C>T p.R876C Missense 13/24 - 2
14-21549162-G-A c.2627G>A p.R876H Missense 13/24 - 1
14-21549170-C-T c.2635C>T p.Q879* Nonsense 13/24 - 1
14-21549175-G-A c.2640G>A p.Q880= Synonymous 13/24 - 1
14-21549335-G-A c.2640+160G>A - IntronicSNV - 13/23 1
14-21549602-C-T c.2641-66C>T - IntronicSNV - 13/23 2
14-21549654-C-T c.2641-14C>T - IntronicSNV - 13/23 2
14-21549680-G-C c.2653G>C p.V885L Missense 14/24 - 1
14-21549680-G-T c.2653G>T p.V885L Missense 14/24 - 1
14-21549692-T-C c.2665T>C p.F889L Missense 14/24 - 1
14-21549692-T-G c.2665T>G p.F889V Missense 14/24 - 1
14-21549694-T-A c.2667T>A p.F889L Missense 14/24 - 1
14-21549694-T-G c.2667T>G p.F889L Missense 14/24 - 1
14-21549693-T-G c.2666T>G p.F889C Missense 14/24 - 1
14-21549698-C-T c.2671C>T p.R891W Missense 14/24 - 2
14-21549700-G-A c.2673G>A p.R891= Synonymous 14/24 - 1
14-21549704-GCA-TGT c.2677_2679delinsTGT p.A893C Missense 14/24 - 1
14-21549708-G-A c.2681G>A p.G894E Missense 14/24 - 1
14-21549709-A-C c.2682A>C p.G894= Synonymous 14/24 - 1
14-21549709-A-G c.2682A>G p.G894= Synonymous 14/24 - 1
14-21549709-A-T c.2682A>T p.G894= Synonymous 14/24 - 1
14-21549721-T-A c.2694T>A p.G898= Synonymous 14/24 - 1
14-21549721-T-C c.2694T>C p.G898= Synonymous 14/24 - 1
14-21549721-T-G c.2694T>G p.G898= Synonymous 14/24 - 1
14-21549722-C-T c.2695C>T p.R899W Missense 14/24 - 3
14-21549725-G-T c.2698G>T p.E900* Nonsense 14/24 - 2
14-21549738-C-T c.2711C>T p.A904V Missense 14/24 - 2
14-21549739-T-G c.2712T>G p.A904= Synonymous 14/24 - 1
14-21549743-C-G c.2716C>G p.L906V Missense 14/24 - 1
14-21549748-C-T c.2721C>T p.A907= Synonymous 14/24 - 1
14-21549752-C-G c.2725C>G p.R909G Missense 14/24 - 1
14-21549752-C-T c.2725C>T p.R909W Missense 14/24 - 2
14-21549755-C-A c.2728C>A p.R910= Synonymous 14/24 - 1
14-21549755-C-G c.2728C>G p.R910G Missense 14/24 - 1
14-21549755-C-T c.2728C>T p.R910W Missense 14/24 - 1
14-21549757-G-A c.2730G>A p.R910= Synonymous 14/24 - 1
14-21549757-G-C c.2730G>C p.R910= Synonymous 14/24 - 1
14-21549757-G-T c.2730G>T p.R910= Synonymous 14/24 - 1
14-21549761-C-T c.2734C>T p.P912S Missense 14/24 - 1
14-21549767-C-G c.2740C>G p.P914A Missense 14/24 - 1
14-21549767-C-T c.2740C>T p.P914S Missense 14/24 - 1
14-21549772-T-C c.2745T>C p.S915= Synonymous 14/24 - 1
14-21549774-C-T c.2747C>T p.A916V Missense 14/24 - 1
14-21549776-G-A c.2749G>A p.G917S Missense 14/24 - 4
14-21549777-G-A c.2750G>A p.G917D Missense 14/24 - 1
14-21549781-C-T c.2754C>T p.T918= Synonymous 14/24 - 1
14-21549785-C-A c.2758C>A p.Q920K Missense 14/24 - 1
14-21549790-G-A c.2763G>A p.E921= Synonymous 14/24 - 1
14-21549794-C-T c.2767C>T p.R923W Missense 14/24 - 4
14-21549795-G-A c.2768G>A p.R923Q Missense 14/24 - 2
14-21549803-G-A c.2776G>A p.A926T Missense 14/24 - 1
14-21549804-C-T c.2777C>T p.A926V Missense 14/24 - 1
14-21549812-C-T c.2785C>T p.L929= Synonymous 14/24 - 1
14-21549813-T-C c.2786T>C p.L929P Missense 14/24 - 1
14-21549814-G-A c.2787G>A p.L929= Synonymous 14/24 - 4
14-21549815-G-A c.2788G>A p.G930S Missense 14/24 - 2
14-21549821-C-CCAGG c.2797_2798insGCAG p.A933Gfs*86 Frameshift 14/24 - 1
14-21549833-CGA-TGT c.2806_2808delinsTGT p.R936C Missense 14/24 - 1
14-21549840-G-T c.2813G>T p.W938L Missense 14/24 - 1
14-21549843-G-A c.2816G>A p.G939D Missense 14/24 - 1
14-21549845-C-G c.2818C>G p.R940G Missense 14/24 - 1
14-21549846-G-A c.2819G>A p.R940H Missense 14/24 - 2
14-21549861-G-T c.2834G>T p.C945F Missense 14/24 - 1
14-21549865-A-C c.2838A>C p.Q946H Missense 14/24 - 1
14-21549865-A-T c.2838A>T p.Q946H Missense 14/24 - 1
14-21549882-T-C c.2855T>C p.I952T Missense 14/24 - 1
14-21549893-G-A c.2866G>A p.V956M Missense 14/24 - 7
14-21549893-G-C c.2866G>C p.V956L Missense 14/24 - 40
14-21549893-G-T c.2866G>T p.V956L Missense 14/24 - 7
14-21549895-G-A c.2868G>A p.V956= Synonymous 14/24 - 3
14-21549895-G-C c.2868G>C p.V956= Synonymous 14/24 - 3
14-21549895-G-T c.2868G>T p.V956= Synonymous 14/24 - 3
14-21549905-G-A c.2878G>A p.A960T Missense 14/24 - 2
14-21549907-G-C c.2880G>C p.A960= Synonymous 14/24 - 1
14-21549910-C-T c.2883C>T p.S961= Synonymous 14/24 - 1
14-21549913-A-C c.2886A>C p.P962= Synonymous 14/24 - 2
14-21549913-A-G c.2886A>G p.P962= Synonymous 14/24 - 2
14-21549913-A-T c.2886A>T p.P962= Synonymous 14/24 - 2
14-21549915-G-A c.2888G>A p.R963Q Missense 14/24 - 2
14-21549923-C-T c.2896C>T p.R966* Nonsense 14/24 - 2
14-21549924-GA-AT c.2897_2898delinsAT p.R966H Missense 14/24 - 1
14-21549929-C-T c.2902C>T p.R968W Missense 14/24 - 1
14-21549940-ACGG-A c.2913_2915del p.G972del InFrameDeletion 14/24 - 1
14-21549941-G-C c.2914G>C p.G972R Missense 14/24 - 1
14-21549945-C-G c.2918C>G p.A973G Missense 14/24 - 1
14-21549947-A-G c.2920A>G p.S974G Missense 14/24 - 2
14-21549950-A-G c.2923A>G p.S975G Missense 14/24 - 1
14-21549953-G-A c.2926G>A p.G976R Missense 14/24 - 2
14-21549953-G-C c.2926G>C p.G976R Missense 14/24 - 2
14-21549954-G-C c.2927G>C p.G976A Missense 14/24 - 1
14-21549964-G-A c.2937G>A p.Q979= Synonymous 14/24 - 1
14-21549972-C-T c.2945C>T p.P982L Missense 14/24 - 1
14-21549984-C-T c.2957C>T p.S986L Missense 14/24 - 3
14-21549985-G-A c.2958G>A p.S986= Synonymous 14/24 - 1
14-21549985-G-C c.2958G>C p.S986= Synonymous 14/24 - 1
14-21549985-G-T c.2958G>T p.S986= Synonymous 14/24 - 2
14-21549998-TC-AA c.2971_2972delinsAA p.S991N Missense 14/24 - 1
14-21549999-C-T c.2972C>T p.S991F Missense 14/24 - 1
14-21550009-C-T c.2982C>T p.L994= Synonymous 14/24 - 1
14-21550013-AG-CC c.2986_2987delinsCC p.S996P Missense 14/24 - 1
14-21550013-AG-TT c.2986_2987delinsTT p.S996F Missense 14/24 - 1
14-21550018-C-T c.2991C>T p.S997= Synonymous 14/24 - 1
14-21550020-C-G c.2993C>G p.P998R Missense 14/24 - 1
14-21550022-G-A c.2995G>A p.G999R Missense 14/24 - 1
14-21550031-C-G c.3004C>G p.P1002A Missense 14/24 - 1
14-21550036-C-A c.3009C>A p.A1003= Synonymous 14/24 - 2
14-21550036-C-G c.3009C>G p.A1003= Synonymous 14/24 - 3
14-21550036-C-T c.3009C>T p.A1003= Synonymous 14/24 - 2
14-21550037-C-A c.3010C>A p.P1004T Missense 14/24 - 1
14-21550046-T-G c.3019T>G p.C1007G Missense 14/24 - 1
14-21550055-G-T c.3028G>T p.A1010S Missense 14/24 - 3
14-21550055-GC-G c.3032del p.P1011Hfs*26 Frameshift 14/24 - 1
14-21550063-T-C c.3036T>C p.C1012= Synonymous 14/24 - 1
14-21550064-G-A c.3037G>A p.G1013R Missense 14/24 - 3
14-21550064-G-C c.3037G>C p.G1013R Missense 14/24 - 2
14-21550066-A-T c.3039A>T p.G1013= Synonymous 14/24 - 1
14-21550071-A-G c.3044A>G p.D1015G Missense 14/24 - 1
14-21550091-G-C c.3064G>C p.E1022Q Missense 14/24 - 1
14-21550102-A-G c.3075A>G p.P1025= Synonymous 14/24 - 1
14-21550115-A-G c.3088A>G p.R1030G Missense 14/24 - 1
14-21550122-C-G c.3095C>G p.P1032R Missense 14/24 - 1
14-21550125-G-A c.3098G>A p.R1033K Missense 14/24 - 1
14-21550127-G-A c.3100G>A p.A1034T Missense 14/24 - 1
14-21550138-C-A c.3111C>A p.I1037= Synonymous 14/24 - 1
14-21550139-C-A c.3112C>A p.R1038= Synonymous 14/24 - 2
14-21550139-C-G c.3112C>G p.R1038G Missense 14/24 - 1
14-21550139-C-T c.3112C>T p.R1038* Nonsense 14/24 - 2
14-21550141-A-C c.3114A>C p.R1038= Synonymous 14/24 - 1
14-21550141-A-G c.3114A>G p.R1038= Synonymous 14/24 - 1
14-21550141-A-T c.3114A>T p.R1038= Synonymous 14/24 - 1
14-21550140-G-A c.3113G>A p.R1038Q Missense 14/24 - 1
14-21550152-T-C c.3125T>C p.V1042A Missense 14/24 - 1
14-21550156-C-T c.3129C>T p.T1043= Synonymous 14/24 - 1
14-21550162-T-A c.3135T>A p.T1045= Synonymous 14/24 - 1
14-21550162-T-C c.3135T>C p.T1045= Synonymous 14/24 - 1
14-21550162-T-G c.3135T>G p.T1045= Synonymous 14/24 - 1
14-21550172-G-A c.3145G>A p.D1049N Missense 14/24 - 1
14-21550176-G-T c.3149G>T p.R1050M Missense 14/24 - 1
14-21550175-AG-A c.3150del p.T1051Rfs*22 Frameshift 14/24 - 1
14-21550179-C-T c.3152C>T p.T1051M Missense 14/24 - 2
14-21550185-C-T c.3158C>T p.S1053L Missense 14/24 - 1
14-21550190-C-A c.3163C>A p.R1055= Synonymous 14/24 - 1
14-21550192-G-A c.3165G>A p.R1055= Synonymous 14/24 - 1
14-21550192-G-C c.3165G>C p.R1055= Synonymous 14/24 - 1
14-21550192-G-T c.3165G>T p.R1055= Synonymous 14/24 - 1
14-21550198-C-T c.3171C>T p.H1057= Synonymous 14/24 - 1
14-21550212-G-A c.3185G>A p.R1062Q Missense 14/24 - 4
14-21550212-G-T c.3185G>T p.R1062L Missense 14/24 - 1
14-21550218-G-A c.3191G>A p.R1064K Missense 14/24 - 1
14-21550222-G-A c.3195G>A p.G1065= Synonymous 14/24 - 3
14-21550222-G-C c.3195G>C p.G1065= Synonymous 14/24 - 2
14-21550222-G-T c.3195G>T p.G1065= Synonymous 14/24 - 2
14-21550228-C-A c.3201C>A p.D1067E Missense 14/24 - 1
14-21550228-C-G c.3201C>G p.D1067E Missense 14/24 - 1
14-21550228-C-T c.3201C>T p.D1067= Synonymous 14/24 - 3
14-21550230-G-C c.3203G>C p.G1068A Missense 14/24 - 1
14-21550239-G-T c.3212G>T p.G1071V Missense 14/24 - 1
14-21550244-G-A c.3217G>A p.G1073S Missense 14/24 - 1
14-21550245-G-C c.3218G>C p.G1073A Missense 14/24 - 3
14-21550249-C-A c.3222C>A p.T1074= Synonymous 14/24 - 1
14-21550249-C-G c.3222C>G p.T1074= Synonymous 14/24 - 1
14-21550249-C-T c.3222C>T p.T1074= Synonymous 14/24 - 1
14-21550251-C-T c.3224C>T p.P1075L Missense 14/24 - 1
14-21550247-A-AC c.3226dup p.R1076Pfs*17 Frameshift 14/24 - 1
14-21550247-AC-A c.3226del p.R1076Gfs*18 Frameshift 14/24 - 3
14-21550254-G-T c.3227G>T p.R1076L Missense 14/24 - 3
14-21550259-G-A c.3232G>A p.E1078K Missense 14/24 - 1
14-21550261-G-C c.3234G>C p.E1078D Missense 14/24 - 1
14-21550261-G-T c.3234G>T p.E1078D Missense 14/24 - 1
14-21550263-G-A c.3236G>A p.R1079H Missense 14/24 - 3
14-21550264-C-A c.3237C>A p.R1079= Synonymous 14/24 - 1
14-21550264-C-G c.3237C>G p.R1079= Synonymous 14/24 - 1
14-21550264-C-T c.3237C>T p.R1079= Synonymous 14/24 - 1
14-21550269-G-A c.3242G>A p.R1081Q Missense 14/24 - 2
14-21550273-C-T c.3246C>T p.S1082= Synonymous 14/24 - 1
14-21550279-G-A c.3251+1G>A - IntronicSNV - 14/23 1
14-21550406-C-A c.3255C>A p.A1085= Synonymous 15/24 - 1
14-21550406-C-G c.3255C>G p.A1085= Synonymous 15/24 - 1
14-21550406-C-T c.3255C>T p.A1085= Synonymous 15/24 - 1
14-21550413-C-T c.3262C>T p.R1088W Missense 15/24 - 1
14-21550415-G-A c.3264G>A p.R1088= Synonymous 15/24 - 2
14-21550420-T-G c.3269T>G p.V1090G Missense 15/24 - 1
14-21550426-A-C c.3275A>C p.E1092A Missense 15/24 - 1
14-21550441-A-T c.3290A>T p.E1097V Missense 15/24 - 1
14-21550452-G-A c.3301G>A p.V1101M Missense 15/24 - 2
14-21550452-G-T c.3301G>T p.V1101L Missense 15/24 - 1
14-21550456-C-T c.3305C>T p.A1102V Missense 15/24 - 4
14-21550460-C-A c.3309C>A p.T1103= Synonymous 15/24 - 1
14-21550460-C-G c.3309C>G p.T1103= Synonymous 15/24 - 1
14-21550460-C-T c.3309C>T p.T1103= Synonymous 15/24 - 1
14-21550467-G-A c.3316G>A p.E1106K Missense 15/24 - 1
14-21550478-AC-A c.3332del p.P1111Lfs*5 Frameshift 15/24 - 5
14-21550490-T-A c.3339T>A p.P1113= Synonymous 15/24 - 1
14-21550490-T-C c.3339T>C p.P1113= Synonymous 15/24 - 1
14-21550490-T-G c.3339T>G p.P1113= Synonymous 15/24 - 1
14-21550499-G-A c.3348G>A p.T1116= Synonymous 15/24 - 4
14-21550499-G-C c.3348G>C p.T1116= Synonymous 15/24 - 4
14-21550499-G-T c.3348G>T p.T1116= Synonymous 15/24 - 5
14-21550508-T-A c.3357T>A p.L1119= Synonymous 15/24 - 1
14-21550508-T-C c.3357T>C p.L1119= Synonymous 15/24 - 1
14-21550508-T-G c.3357T>G p.L1119= Synonymous 15/24 - 1
14-21550509-C-T c.3358C>T p.R1120W Missense 15/24 - 1
14-21550510-G-C c.3359G>C p.R1120P Missense 15/24 - 1
14-21550513-G-A c.3362G>A p.G1121D Missense 15/24 - 1
14-21550516-C-CT c.3365_3366insT p.W1123Lfs*106 Frameshift 15/24 - 1
14-21550518-T-A c.3367T>A p.W1123R Missense 15/24 - 1
14-21550531-T-A c.3380T>A p.L1127Q Missense 15/24 - 1
14-21550533-GA-G c.3382del p.S1128Vfs*46 Frameshift 15/24 - 1
14-21550539-C-G c.3388C>G p.R1130G Missense 15/24 - 1
14-21550540-G-C c.3389G>C p.R1130P Missense 15/24 - 1
14-21550541-G-GT c.3390_3391insT p.E1131* Nonsense 15/24 - 1
14-21550542-G-A c.3391G>A p.E1131K Missense 15/24 - 1
14-21550552-G-A c.3401G>A p.R1134H Missense 15/24 - 3
14-21550559-C-T c.3408C>T p.F1136= Synonymous 15/24 - 2
14-21550561-A-G c.3410A>G p.H1137R Missense 15/24 - 1
14-21550563-C-T c.3412C>T p.R1138W Missense 15/24 - 6
14-21550564-G-A c.3413G>A p.R1138Q Missense 15/24 - 2
14-21550575-C-T c.3424C>T p.L1142= Synonymous 15/24 - 1
14-21550577-G-A c.3426G>A p.L1142= Synonymous 15/24 - 1
14-21550577-G-C c.3426G>C p.L1142= Synonymous 15/24 - 1
14-21550577-G-T c.3426G>T p.L1142= Synonymous 15/24 - 1
14-21550578-C-T c.3427C>T p.R1143W Missense 15/24 - 1
14-21550581-G-A c.3430G>A p.E1144K Missense 15/24 - 2
14-21550586-T-A c.3435T>A p.L1145= Synonymous 15/24 - 1
14-21550586-T-C c.3435T>C p.L1145= Synonymous 15/24 - 1
14-21550586-T-G c.3435T>G p.L1145= Synonymous 15/24 - 1
14-21550590-G-T c.3439G>T p.G1147C Missense 15/24 - 4
14-21550591-G-C c.3440G>C p.G1147A Missense 15/24 - 1
14-21550596-G-A c.3445G>A p.A1149T Missense 15/24 - 2
14-21550602-C-T c.3451C>T p.H1151Y Missense 15/24 - 1
14-21550611-CGC-TGG c.3460_3462delinsTGG p.R1154W Missense 15/24 - 1
14-21550611-C-T c.3460C>T p.R1154C Missense 15/24 - 2
14-21550612-G-A c.3461G>A p.R1154H Missense 15/24 - 1
14-21550617-G-T c.3466G>T p.G1156W Missense 15/24 - 1
14-21550618-G-T c.3467G>T p.G1156V Missense 15/24 - 1
14-21550626-T-C c.3475T>C p.F1159L Missense 15/24 - 1
14-21550628-C-A c.3477C>A p.F1159L Missense 15/24 - 1
14-21550628-C-G c.3477C>G p.F1159L Missense 15/24 - 1
14-21550632-C-T c.3481C>T p.R1161C Missense 15/24 - 1
14-21550633-G-T c.3482G>T p.R1161L Missense 15/24 - 1
14-21550996-C-A c.3493C>A p.Q1165K Missense 16/24 - 1
14-21550997-A-T c.3494A>T p.Q1165L Missense 16/24 - 1
14-21551001-C-T c.3498C>T p.F1166= Synonymous 16/24 - 2
14-21551005-C-T c.3502C>T p.L1168F Missense 16/24 - 1
14-21551020-G-A c.3517G>A p.V1173M Missense 16/24 - 1
14-21551024-A-G c.3521A>G p.K1174R Missense 16/24 - 2
14-21551025-G-C c.3522G>C p.K1174N Missense 16/24 - 1
14-21551025-G-T c.3522G>T p.K1174N Missense 16/24 - 1
14-21551030-G-A c.3527G>A p.R1176Q Missense 16/24 - 3
14-21551030-G-T c.3527G>T p.R1176L Missense 16/24 - 1
14-21551041-G-C c.3538G>C p.E1180Q Missense 16/24 - 1
14-21551051-T-C c.3548T>C p.L1183P Missense 16/24 - 1
14-21551058-G-A c.3555G>A p.A1185= Synonymous 16/24 - 18
14-21551058-G-C c.3555G>C p.A1185= Synonymous 16/24 - 1
14-21551058-G-T c.3555G>T p.A1185= Synonymous 16/24 - 1
14-21551061-C-A c.3558C>A p.L1186= Synonymous 16/24 - 1
14-21551066-C-A c.3563C>A p.P1188H Missense 16/24 - 2
14-21551068-T-C c.3565T>C p.L1189= Synonymous 16/24 - 2
14-21551068-T-TCAAGCAAGG c.3565_3566insCAAGCAAGG p.L1189delinsSSKV MultiAAMissense 16/24 - 1
14-21551070-A-G c.3567A>G p.L1189= Synonymous 16/24 - 2
14-21551069-T-C c.3566T>C p.L1189S Missense 16/24 - 36
14-21551071-A-G c.3568A>G p.S1190G Missense 16/24 - 1
14-21551075-A-G c.3572A>G p.K1191R Missense 16/24 - 1
14-21551089-C-T c.3573+13C>T - IntronicSNV - 16/23 1
14-21551996-C-T c.3576C>T p.G1192= Synonymous 17/24 - 1
14-21552003-G-A c.3583G>A p.E1195K Missense 17/24 - 1
14-21552006-G-A c.3586G>A p.A1196T Missense 17/24 - 2
14-21552011-C-A c.3591C>A p.G1197= Synonymous 17/24 - 1
14-21552011-C-G c.3591C>G p.G1197= Synonymous 17/24 - 1
14-21552011-C-T c.3591C>T p.G1197= Synonymous 17/24 - 1
14-21552016-A-G c.3596A>G p.Y1199C Missense 17/24 - 1
14-21552027-G-A c.3607G>A p.A1203T Missense 17/24 - 1
14-21552029-C-A c.3609C>A p.A1203= Synonymous 17/24 - 1
14-21552035-G-A c.3615G>A p.Q1205= Synonymous 17/24 - 1
14-21552038-G-A c.3618G>A p.Q1206= Synonymous 17/24 - 1
14-21552039-C-T c.3619C>T p.P1207S Missense 17/24 - 1
14-21552040-C-T c.3620C>T p.P1207L Missense 17/24 - 1
14-21552051-C-T c.3631C>T p.L1211= Synonymous 17/24 - 1
14-21552053-G-A c.3633G>A p.L1211= Synonymous 17/24 - 1
14-21552053-G-C c.3633G>C p.L1211= Synonymous 17/24 - 1
14-21552053-G-T c.3633G>T p.L1211= Synonymous 17/24 - 1
14-21552058-G-A c.3638G>A p.R1213Q Missense 17/24 - 2
14-21552066-C-T c.3646C>T p.R1216W Missense 17/24 - 1
14-21552067-G-A c.3647G>A p.R1216Q Missense 17/24 - 1
14-21552072-C-T c.3652C>T p.L1218= Synonymous 17/24 - 1
14-21552074-G-A c.3654G>A p.L1218= Synonymous 17/24 - 2
14-21552074-G-C c.3654G>C p.L1218= Synonymous 17/24 - 1
14-21552074-G-T c.3654G>T p.L1218= Synonymous 17/24 - 1
14-21552086-G-A c.3666G>A p.L1222= Synonymous 17/24 - 1
14-21552090-G-A c.3670G>A p.E1224K Missense 17/24 - 1
14-21552090-G-C c.3670G>C p.E1224Q Missense 17/24 - 1
14-21552099-C-T c.3679C>T p.P1227S Missense 17/24 - 1
14-21552106-T-G c.3686T>G p.L1229R Missense 17/24 - 1
14-21552114-G-A c.3694G>A p.E1232K Missense 17/24 - 1
14-21552129-GGG-TGT c.3709_3711delinsTGT p.G1237C Missense 17/24 - 1
14-21552141-C-A c.3721C>A p.Q1241K Missense 17/24 - 1
14-21552141-C-T c.3721C>T p.Q1241* Nonsense 17/24 - 1
14-21552142-A-G c.3722A>G p.Q1241R Missense 17/24 - 1
14-21552147-C-T c.3727C>T p.L1243F Missense 17/24 - 1
14-21552158-A-C c.3738A>C p.Q1246H Missense 17/24 - 1
14-21552158-A-T c.3738A>T p.Q1246H Missense 17/24 - 1
14-21552164-C-T c.3744C>T p.A1248= Synonymous 17/24 - 1
14-21552165-C-T c.3745C>T p.R1249C Missense 17/24 - 2
14-21552166-GT-AA c.3746_3747delinsAA p.R1249Q Missense 17/24 - 1
14-21552171-AG-CA c.3751_3752delinsCA p.R1251Q Missense 17/24 - 1
14-21552170-CAG-C c.3754_3755del p.D1252Pfs*11 Frameshift 17/24 - 1
14-21552180-CTG-ATC c.3760_3762delinsATC p.L1254I Missense 17/24 - 1
14-21552184-C-T c.3764C>T p.A1255V Missense 17/24 - 2
14-21552186-G-A c.3766G>A p.V1256M Missense 17/24 - 3
14-21552188-G-A c.3768G>A p.V1256= Synonymous 17/24 - 2
14-21552188-G-C c.3768G>C p.V1256= Synonymous 17/24 - 2
14-21552188-G-T c.3768G>T p.V1256= Synonymous 17/24 - 3
14-21552189-G-A c.3769G>A p.E1257K Missense 17/24 - 2
14-21552191-G-C c.3771G>C p.E1257D Missense 17/24 - 1
14-21552191-G-T c.3771G>T p.E1257D Missense 17/24 - 1
14-21552193-C-A c.3773C>A p.A1258E Missense 17/24 - 1
14-21552197-G-A c.3777G>A p.V1259= Synonymous 17/24 - 1
14-21552198-C-T c.3778C>T p.R1260C Missense 17/24 - 1
14-21552918-CTG-ATC c.3796_3798delinsATC p.L1266I Missense 18/24 - 1
14-21552918-C-T c.3796C>T p.L1266= Synonymous 18/24 - 1
14-21552920-G-A c.3798G>A p.L1266= Synonymous 18/24 - 1
14-21552920-G-C c.3798G>C p.L1266= Synonymous 18/24 - 1
14-21552920-G-T c.3798G>T p.L1266= Synonymous 18/24 - 1
14-21552930-GGA-TGT c.3808_3810delinsTGT p.G1270C Missense 18/24 - 1
14-21552942-C-G c.3820C>G p.H1274D Missense 18/24 - 1
14-21552946-G-A c.3824G>A p.R1275Q Missense 18/24 - 4
14-21552960-G-A c.3838G>A p.V1280I Missense 18/24 - 1
14-21552965-C-A c.3843C>A p.I1281= Synonymous 18/24 - 2
14-21552965-C-T c.3843C>T p.I1281= Synonymous 18/24 - 3
14-21552970-G-A c.3848G>A p.G1283D Missense 18/24 - 1
14-21552971-C-G c.3849C>G p.G1283= Synonymous 18/24 - 1
14-21552972-C-A c.3850C>A p.R1284= Synonymous 18/24 - 1
14-21552972-C-T c.3850C>T p.R1284* Nonsense 18/24 - 1
14-21552974-A-C c.3852A>C p.R1284= Synonymous 18/24 - 1
14-21552974-A-G c.3852A>G p.R1284= Synonymous 18/24 - 1
14-21552974-A-T c.3852A>T p.R1284= Synonymous 18/24 - 1
14-21552975-A-G c.3853A>G p.K1285E Missense 18/24 - 2
14-21552987-C-A c.3865C>A p.R1289S Missense 18/24 - 1
14-21552988-G-A c.3866G>A p.R1289H Missense 18/24 - 1
14-21552991-A-G c.3869A>G p.H1290R Missense 18/24 - 1
14-21552996-T-G c.3874T>G p.F1292V Missense 18/24 - 1
14-21552999-CT-AG c.3877_3878inv p.L1293S Missense 18/24 - 1
14-21553001-C-A c.3879C>A p.L1293= Synonymous 18/24 - 1
14-21553001-C-G c.3879C>G p.L1293= Synonymous 18/24 - 1
14-21553001-C-T c.3879C>T p.L1293= Synonymous 18/24 - 1
14-21553002-CTT-C c.3880_3881del p.F1294Rfs*13 Frameshift 18/24 - 1
14-21553002-T-C c.3880T>C p.F1294L Missense 18/24 - 1
14-21553004-C-A c.3882C>A p.F1294L Missense 18/24 - 1
14-21553004-C-G c.3882C>G p.F1294L Missense 18/24 - 1
14-21553004-C-T c.3882C>T p.F1294= Synonymous 18/24 - 5
14-21553005-G-T c.3883G>T p.E1295* Nonsense 18/24 - 1
14-21553010-TCTC-T c.3894_3896del p.L1299del InFrameDeletion 18/24 - 1
14-21553024-G-A c.3902G>A p.S1301N Missense 18/24 - 1
14-21553025-C-A c.3903C>A p.S1301R Missense 18/24 - 1
14-21553028-G-C c.3906G>C p.K1302N Missense 18/24 - 1
14-21553028-G-T c.3906G>T p.K1302N Missense 18/24 - 1
14-21553029-C-A c.3907C>A p.L1303I Missense 18/24 - 1
14-21553029-C-T c.3907C>T p.L1303F Missense 18/24 - 1
14-21553035-G-A c.3913G>A p.G1305S Missense 18/24 - 1
14-21553041-G-T c.3919G>T p.E1307* Nonsense 18/24 - 1
14-21553046-G-A c.3924G>A p.G1308= Synonymous 18/24 - 2
14-21553043-AG-A c.3927del p.S1310Qfs*17 Frameshift 18/24 - 1
14-21553056-A-G c.3934A>G p.M1312V Missense 18/24 - 1
14-21553057-T-C c.3935T>C p.M1312T Missense 18/24 - 11
14-21553823-C-T c.3961-25C>T - IntronicSNV - 18/23 2
14-21553854-G-T c.3967G>T p.D1323Y Missense 19/24 - 1
14-21553877-C-A c.3990C>A p.I1330= Synonymous 19/24 - 2
14-21553877-C-T c.3990C>T p.I1330= Synonymous 19/24 - 3
14-21553881-G-A c.3994G>A p.D1332N Missense 19/24 - 1
14-21553887-G-T c.4000G>T p.G1334* Nonsense 19/24 - 1
14-21553888-G-A c.4001G>A p.G1334E Missense 19/24 - 1
14-21553890-CT-AG c.4003_4004inv p.L1335S Missense 19/24 - 1
14-21553899-G-C c.4012G>C p.E1338Q Missense 19/24 - 2
14-21553911-C-T c.4024C>T p.R1342W Missense 19/24 - 1
14-21553912-G-A c.4025G>A p.R1342Q Missense 19/24 - 1
14-21553914-C-T c.4027C>T p.R1343W Missense 19/24 - 1
14-21553915-G-A c.4028G>A p.R1343Q Missense 19/24 - 1
14-21553917-C-A c.4030C>A p.R1344= Synonymous 19/24 - 1
14-21553917-CGG-TGT c.4030_4032delinsTGT p.R1344C Missense 19/24 - 1
14-21553917-C-T c.4030C>T p.R1344W Missense 19/24 - 3
14-21553919-G-A c.4032G>A p.R1344= Synonymous 19/24 - 1
14-21553919-G-C c.4032G>C p.R1344= Synonymous 19/24 - 1
14-21553919-G-T c.4032G>T p.R1344= Synonymous 19/24 - 1
14-21553927-G-A c.4040G>A p.R1347Q Missense 19/24 - 1
14-21553928-A-G c.4041A>G p.R1347= Synonymous 19/24 - 1
14-21553929-G-C c.4042G>C p.E1348Q Missense 19/24 - 3
14-21553944-C-T c.4057C>T p.Q1353* Nonsense 19/24 - 1
14-21553956-C-A c.4069C>A p.P1357T Missense 19/24 - 2
14-21553956-C-T c.4069C>T p.P1357S Missense 19/24 - 1
14-21553957-C-A c.4070C>A p.P1357Q Missense 19/24 - 1
14-21553959-G-C c.4072G>C p.E1358Q Missense 19/24 - 1
14-21553977-A-G c.4090A>G p.T1364A Missense 19/24 - 1
14-21553984-C-A c.4097C>A p.S1366Y Missense 19/24 - 1
14-21553984-CT-AA c.4097_4098delinsAA p.S1366* Nonsense 19/24 - 1
14-21553987-T-C c.4100T>C p.I1367T Missense 19/24 - 1
14-21553988-T-A c.4101T>A p.I1367= Synonymous 19/24 - 2
14-21553988-T-C c.4101T>C p.I1367= Synonymous 19/24 - 3
14-21553992-C-A c.4105C>A p.Q1369K Missense 19/24 - 2
14-21554016-CACA-C c.4134_4136del p.N1378del InFrameDeletion 19/24 - 1
14-21554024-G-A c.4137G>A p.K1379= Synonymous 19/24 - 1
14-21554243-A-G c.4138+218A>G - IntronicSNV - 19/23 1
14-21554243-A-T c.4138+218A>T - IntronicSNV - 19/23 2
14-21554542-T-A c.4138+517T>A - IntronicSNV - 19/23 1
14-21555068-A-G c.4139-92A>G - IntronicSNV - 19/23 1
14-21555088-A-C c.4139-72A>C - IntronicSNV - 19/23 1
14-21555162-C-T c.4141C>T p.L1381F Missense 20/24 - 1
14-21555165-C-T c.4144C>T p.R1382* Nonsense 20/24 - 2
14-21555166-G-A c.4145G>A p.R1382Q Missense 20/24 - 1
14-21555169-T-C c.4148T>C p.V1383A Missense 20/24 - 1
14-21555190-G-T c.4169G>T p.G1390V Missense 20/24 - 1
14-21555191-C-A c.4170C>A p.G1390= Synonymous 20/24 - 1
14-21555191-C-G c.4170C>G p.G1390= Synonymous 20/24 - 1
14-21555191-C-T c.4170C>T p.G1390= Synonymous 20/24 - 1
14-21555196-G-A c.4175G>A p.G1392E Missense 20/24 - 1
14-21555204-C-G c.4183C>G p.P1395A Missense 20/24 - 2
14-21555211-T-C c.4190T>C p.L1397P Missense 20/24 - 1
14-21555225-C-T c.4204C>T p.L1402F Missense 20/24 - 1
14-21555234-C-T c.4213C>T p.R1405W Missense 20/24 - 3
14-21555238-C-A c.4217C>A p.T1406K Missense 20/24 - 1
14-21555262-G-A c.4241G>A p.R1414K Missense 20/24 - 1
14-21555460-C-A c.4244-19C>A - IntronicSNV - 20/23 1
14-21555460-C-G c.4244-19C>G - IntronicSNV - 20/23 1
14-21555460-C-T c.4244-19C>T - IntronicSNV - 20/23 1
14-21555480-C-A c.4245C>A p.A1415= Synonymous 21/24 - 1
14-21555480-C-G c.4245C>G p.A1415= Synonymous 21/24 - 1
14-21555480-C-T c.4245C>T p.A1415= Synonymous 21/24 - 2
14-21555481-G-A c.4246G>A p.A1416T Missense 21/24 - 9
14-21555482-C-T c.4247C>T p.A1416V Missense 21/24 - 2
14-21555485-G-A c.4250G>A p.R1417H Missense 21/24 - 3
14-21555486-C-T c.4251C>T p.R1417= Synonymous 21/24 - 1
14-21555487-A-C c.4252A>C p.T1418P Missense 21/24 - 1
14-21555501-G-A c.4266G>A p.V1422= Synonymous 21/24 - 1
14-21555517-G-C c.4282G>C p.E1428Q Missense 21/24 - 1
14-21555535-C-T c.4300C>T p.L1434F Missense 21/24 - 1
14-21555533-CCCTT-C c.4301_4304del p.L1434Pfs*67 Frameshift 21/24 - 1
14-21555546-T-C c.4311T>C p.L1437= Synonymous 21/24 - 1
14-21555549-G-A c.4314G>A p.S1438= Synonymous 21/24 - 3
14-21555549-G-C c.4314G>C p.S1438= Synonymous 21/24 - 1
14-21555549-G-T c.4314G>T p.S1438= Synonymous 21/24 - 2
14-21555550-C-T c.4315C>T p.P1439S Missense 21/24 - 1
14-21555549-GC-G c.4316del p.P1439Rfs*63 Frameshift 21/24 - 1
14-21555551-C-T c.4316C>T p.P1439L Missense 21/24 - 1
14-21555573-C-A c.4338C>A p.A1446= Synonymous 21/24 - 1
14-21555573-C-G c.4338C>G p.A1446= Synonymous 21/24 - 1
14-21555573-C-T c.4338C>T p.A1446= Synonymous 21/24 - 1
14-21555574-C-T c.4339C>T p.R1447C Missense 21/24 - 2
14-21555575-G-A c.4340G>A p.R1447H Missense 21/24 - 3
14-21555575-G-T c.4340G>T p.R1447L Missense 21/24 - 1
14-21555578-T-C c.4343T>C p.V1448A Missense 21/24 - 1
14-21555580-G-A c.4345G>A p.E1449K Missense 21/24 - 1
14-21555579-CGAG-C c.4352_4354del p.E1451del InFrameDeletion 21/24 - 1
14-21555592-T-C c.4357T>C p.W1453R Missense 21/24 - 1
14-21555593-G-A c.4358G>A p.W1453* Nonsense 21/24 - 1
14-21555594-G-A c.4359G>A p.W1453* Nonsense 21/24 - 1
14-21555601-G-A c.4366G>A p.D1456N Missense 21/24 - 1
14-21555618-C-G c.4383C>G p.S1461= Synonymous 21/24 - 1
14-21555619-C-T c.4384C>T p.L1462= Synonymous 21/24 - 1
14-21555645-G-C c.4387+23G>C - IntronicSNV - 21/23 1
14-21555788-T-A c.4387+166T>A - IntronicSNV - 21/23 1
14-21555799-A-G c.4387+177A>G - IntronicSNV - 21/23 1
14-21555824-C-T c.4387+202C>T - IntronicSNV - 21/23 1
14-21556130-C-T c.4391C>T p.P1464L Missense 22/24 - 1
14-21556131-A-C c.4392A>C p.P1464= Synonymous 22/24 - 1
14-21556131-A-G c.4392A>G p.P1464= Synonymous 22/24 - 1
14-21556131-A-T c.4392A>T p.P1464= Synonymous 22/24 - 1
14-21556132-AG-A c.4393del p.E1465Kfs*37 Frameshift 22/24 - 1
14-21556134-A-C c.4395A>C p.E1465D Missense 22/24 - 1
14-21556134-A-T c.4395A>T p.E1465D Missense 22/24 - 1
14-21556135-ACA-TGT c.4396_4398inv p.T1466C Missense 22/24 - 1
14-21556138-C-T c.4399C>T p.L1467F Missense 22/24 - 1
14-21556139-T-C c.4400T>C p.L1467P Missense 22/24 - 1
14-21556142-A-G c.4403A>G p.D1468G Missense 22/24 - 1
14-21556148-C-T c.4409C>T p.S1470F Missense 22/24 - 1
14-21556151-G-C c.4412G>C p.G1471A Missense 22/24 - 1
14-21556153-G-A c.4414G>A p.D1472N Missense 22/24 - 1
14-21556153-G-T c.4414G>T p.D1472Y Missense 22/24 - 1
14-21556154-A-G c.4415A>G p.D1472G Missense 22/24 - 1
14-21556155-T-C c.4416T>C p.D1472= Synonymous 22/24 - 1
14-21556156-G-A c.4417G>A p.V1473M Missense 22/24 - 2
14-21556158-G-A c.4419G>A p.V1473= Synonymous 22/24 - 1
14-21556158-G-C c.4419G>C p.V1473= Synonymous 22/24 - 1
14-21556158-G-T c.4419G>T p.V1473= Synonymous 22/24 - 1
14-21556160-C-A c.4421C>A p.S1474Y Missense 22/24 - 1
14-21556161-C-A c.4422C>A p.S1474= Synonymous 22/24 - 1
14-21556161-C-G c.4422C>G p.S1474= Synonymous 22/24 - 1
14-21556161-C-T c.4422C>T p.S1474= Synonymous 22/24 - 1
14-21556166-G-A c.4427G>A p.G1476E Missense 22/24 - 3
14-21556166-GA-AC c.4427_4428delinsAC p.G1476D Missense 22/24 - 1
14-21556167-A-C c.4428A>C p.G1476= Synonymous 22/24 - 1
14-21556167-A-T c.4428A>T p.G1476= Synonymous 22/24 - 2
14-21556169-C-A c.4430C>A p.P1477Q Missense 22/24 - 2
14-21556177-AG-CT c.4438_4439inv p.S1480L Missense 22/24 - 1
14-21556178-G-T c.4439G>T p.S1480I Missense 22/24 - 1
14-21556179-C-T c.4440C>T p.S1480= Synonymous 22/24 - 1
14-21556180-C-T c.4441C>T p.P1481S Missense 22/24 - 1
14-21556188-G-A c.4449G>A p.L1483= Synonymous 22/24 - 1
14-21556189-C-A c.4450C>A p.Q1484K Missense 22/24 - 4
14-21556191-A-C c.4452A>C p.Q1484H Missense 22/24 - 1
14-21556192-C-A c.4453C>A p.P1485T Missense 22/24 - 1
14-21556192-C-T c.4453C>T p.P1485S Missense 22/24 - 1
14-21556193-C-A c.4454C>A p.P1485H Missense 22/24 - 1
14-21556193-C-T c.4454C>T p.P1485L Missense 22/24 - 1
14-21556194-C-T c.4455C>T p.P1485= Synonymous 22/24 - 1
14-21556196-C-A c.4457C>A p.P1486H Missense 22/24 - 1
14-21556197-C-A c.4458C>A p.P1486= Synonymous 22/24 - 1
14-21556197-C-G c.4458C>G p.P1486= Synonymous 22/24 - 1
14-21556191-A-AC c.4459dup p.H1487Pfs*28 Frameshift 22/24 - 4
14-21556191-AC-A c.4459del p.H1487Tfs*15 Frameshift 22/24 - 5
14-21556198-C-A c.4459C>A p.H1487N Missense 22/24 - 1
14-21556198-C-G c.4459C>G p.H1487D Missense 22/24 - 1
14-21556198-C-T c.4459C>T p.H1487Y Missense 22/24 - 1
14-21556199-A-C c.4460A>C p.H1487P Missense 22/24 - 1
14-21556200-C-A c.4461C>A p.H1487Q Missense 22/24 - 1
14-21556200-C-T c.4461C>T p.H1487= Synonymous 22/24 - 1
14-21556201-C-T c.4462C>T p.P1488S Missense 22/24 - 2
14-21556195-CCCCACCCTGGGAGCAGCACT-C c.4467_4486del p.S1490Qfs*18 Frameshift 22/24 - 1
14-21556206-G-A c.4467G>A p.G1489= Synonymous 22/24 - 1
14-21556207-A-T c.4468A>T p.S1490C Missense 22/24 - 1
14-21556211-G-A c.4472G>A p.S1491N Missense 22/24 - 1
14-21556211-G-T c.4472G>T p.S1491I Missense 22/24 - 2
14-21556212-C-T c.4473C>T p.S1491= Synonymous 22/24 - 1
14-21556214-C-A c.4475C>A p.T1492N Missense 22/24 - 1
14-21556215-T-A c.4476T>A p.T1492= Synonymous 22/24 - 1
14-21556215-T-C c.4476T>C p.T1492= Synonymous 22/24 - 1
14-21556215-T-G c.4476T>G p.T1492= Synonymous 22/24 - 1
14-21556216-C-T c.4477C>T p.P1493S Missense 22/24 - 1
14-21556219-A-C c.4480A>C p.T1494P Missense 22/24 - 1
14-21556220-C-T c.4481C>T p.T1494I Missense 22/24 - 2
14-21556221-C-A c.4482C>A p.T1494= Synonymous 22/24 - 1
14-21556221-C-G c.4482C>G p.T1494= Synonymous 22/24 - 1
14-21556221-C-T c.4482C>T p.T1494= Synonymous 22/24 - 1
14-21556222-C-A c.4483C>A p.L1495M Missense 22/24 - 1
14-21556225-G-A c.4486G>A p.A1496T Missense 22/24 - 1
14-21556226-C-A c.4487C>A p.A1496D Missense 22/24 - 1
14-21556227-C-A c.4488C>A p.A1496= Synonymous 22/24 - 1
14-21556227-C-G c.4488C>G p.A1496= Synonymous 22/24 - 2
14-21556227-C-T c.4488C>T p.A1496= Synonymous 22/24 - 3
14-21556228-A-C c.4489A>C p.S1497R Missense 22/24 - 1
14-21556230-T-A c.4491T>A p.S1497R Missense 22/24 - 1
14-21556230-T-G c.4491T>G p.S1497R Missense 22/24 - 1
14-21556231-C-T c.4492C>T p.R1498* Nonsense 22/24 - 2
14-21556229-GTCGAGGGA-G c.4493_4500del p.R1498Lfs*14 Frameshift 22/24 - 1
14-21556232-G-A c.4493G>A p.R1498Q Missense 22/24 - 2
14-21556235-G-T c.4496G>T p.G1499V Missense 22/24 - 1
14-21556236-G-GA c.4498dup p.I1500Nfs*15 Frameshift 22/24 - 1
14-21556239-C-G c.4500C>G p.I1500M Missense 22/24 - 1
14-21556239-C-T c.4500C>T p.I1500= Synonymous 22/24 - 1
14-21556241-T-C c.4502T>C p.L1501S Missense 22/24 - 1
14-21556244-G-A c.4505G>A p.G1502E Missense 22/24 - 1
14-21556244-G-C c.4505G>C p.G1502A Missense 22/24 - 1
14-21556244-G-T c.4505G>T p.G1502V Missense 22/24 - 1
14-21556248-A-G c.4509A>G p.L1503= Synonymous 22/24 - 1
14-21556250-C-G c.4511C>G p.S1504C Missense 22/24 - 1
14-21556252-C-A c.4513C>A p.R1505= Synonymous 22/24 - 1
14-21556252-CGA-TGG c.4513_4515delinsTGG p.R1505W Missense 22/24 - 1
14-21556252-C-T c.4513C>T p.R1505* Nonsense 22/24 - 1
14-21556253-G-A c.4514G>A p.R1505Q Missense 22/24 - 1
14-21556253-G-T c.4514G>T p.R1505L Missense 22/24 - 2
14-21556255-C-G c.4516C>G p.Q1506E Missense 22/24 - 1
14-21556963-A-AT c.4519-24dup - IntronicInsertion - 22/23 8
14-21556989-A-G c.4519A>G p.S1507G Missense 23/24 - 1
14-21556990-G-A c.4520G>A p.S1507N Missense 23/24 - 1
14-21556994-T-C c.4524T>C p.H1508= Synonymous 23/24 - 1
14-21556995-G-A c.4525G>A p.A1509T Missense 23/24 - 2
14-21556995-G-GCTC c.4526_4528dup p.A1509_R1510insP InFrameInsertion 23/24 - 1
14-21556998-C-G c.4528C>G p.R1510G Missense 23/24 - 1
14-21556998-C-T c.4528C>T p.R1510* Nonsense 23/24 - 3
14-21556999-G-A c.4529G>A p.R1510Q Missense 23/24 - 2
14-21557002-C-T c.4532C>T p.A1511V Missense 23/24 - 1
14-21557003-C-T c.4533C>T p.A1511= Synonymous 23/24 - 1
14-21557006-G-T c.4536G>T p.L1512= Synonymous 23/24 - 1
14-21557014-C-G c.4544C>G p.P1515R Missense 23/24 - 1
14-21557014-C-T c.4544C>T p.P1515L Missense 23/24 - 1
14-21557011-AC-A c.4545del p.T1516Pfs*37 Frameshift 23/24 - 1
14-21557015-C-T c.4545C>T p.P1515= Synonymous 23/24 - 2
14-21557017-C-G c.4547C>G p.T1516S Missense 23/24 - 1
14-21557018-C-G c.4548C>G p.T1516= Synonymous 23/24 - 1
14-21557020-C-T c.4550C>T p.T1517M Missense 23/24 - 1
14-21557021-G-A c.4551G>A p.T1517= Synonymous 23/24 - 7
14-21557021-G-C c.4551G>C p.T1517= Synonymous 23/24 - 2
14-21557021-G-T c.4551G>T p.T1517= Synonymous 23/24 - 2
14-21557022-C-A c.4552C>A p.P1518T Missense 23/24 - 1
14-21557022-C-T c.4552C>T p.P1518S Missense 23/24 - 1
14-21557023-C-A c.4553C>A p.P1518H Missense 23/24 - 3
14-21557025-C-A c.4555C>A p.L1519M Missense 23/24 - 1
14-21557025-C-G c.4555C>G p.L1519V Missense 23/24 - 1
14-21557109-G-A c.*6-64G>A - intron_variant - 23/23 2