NAGS

NAGS N-acetylglutamate synthase

Annotation transcript: NM_153006.3

461 unique variant annotations were identified in 257 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
17-42082033-T-C c.2T>C p.M1? Missense 1/7 - 1
17-42082036-C-T c.5C>T p.A2V Missense 1/7 - 1
17-42082037-G-A c.6G>A p.A2= Synonymous 1/7 - 1
17-42082039-C-A c.8C>A p.T3K Missense 1/7 - 1
17-42082039-C-T c.8C>T p.T3M Missense 1/7 - 1
17-42082046-G-A c.15G>A p.L5= Synonymous 1/7 - 1
17-42082049-G-A c.18G>A p.M6I Missense 1/7 - 3
17-42082049-G-C c.18G>C p.M6I Missense 1/7 - 2
17-42082049-G-T c.18G>T p.M6I Missense 1/7 - 4
17-42082052-T-G c.21T>G p.A7= Synonymous 1/7 - 1
17-42082055-G-A c.24G>A p.V8= Synonymous 1/7 - 1
17-42082062-C-G c.31C>G p.R11G Missense 1/7 - 2
17-42082066-C-T c.35C>T p.A12V Missense 1/7 - 1
17-42082068-G-A c.37G>A p.A13T Missense 1/7 - 1
17-42082068-GCT-TGG c.37_39delinsTGG p.A13W Missense 1/7 - 1
17-42082072-C-A c.41C>A p.A14D Missense 1/7 - 2
17-42082082-G-A c.51G>A p.P17= Synonymous 1/7 - 5
17-42082082-G-C c.51G>C p.P17= Synonymous 1/7 - 3
17-42082082-G-T c.51G>T p.P17= Synonymous 1/7 - 3
17-42082089-AGA-CAT c.58_60delinsCAT p.R20H Missense 1/7 - 1
17-42082094-C-G c.63C>G p.G21= Synonymous 1/7 - 1
17-42082095-C-T c.64C>T p.R22W Missense 1/7 - 1
17-42082108-G-T c.77G>T p.G26V Missense 1/7 - 1
17-42082111-G-A c.80G>A p.G27D Missense 1/7 - 1
17-42082117-G-A c.86G>A p.R29Q Missense 1/7 - 1
17-42082125-A-G c.94A>G p.S32G Missense 1/7 - 1
17-42082125-A-C c.94A>C p.S32R Missense 1/7 - 1
17-42082127-C-A c.96C>A p.S32R Missense 1/7 - 1
17-42082127-C-G c.96C>G p.S32R Missense 1/7 - 1
17-42082130-T-C c.99T>C p.C33= Synonymous 1/7 - 2
17-42082131-G-A c.100G>A p.G34S Missense 1/7 - 1
17-42082133-C-A c.102C>A p.G34= Synonymous 1/7 - 1
17-42082133-C-G c.102C>G p.G34= Synonymous 1/7 - 1
17-42082133-C-T c.102C>T p.G34= Synonymous 1/7 - 1
17-42082136-G-A c.105G>A p.A35= Synonymous 1/7 - 2
17-42082137-C-A c.106C>A p.R36= Synonymous 1/7 - 1
17-42082139-G-A c.108G>A p.R36= Synonymous 1/7 - 2
17-42082139-G-C c.108G>C p.R36= Synonymous 1/7 - 1
17-42082139-G-T c.108G>T p.R36= Synonymous 1/7 - 1
17-42082141-G-A c.110G>A p.R37Q Missense 1/7 - 1
17-42082147-C-T c.116C>T p.A39V Missense 1/7 - 2
17-42082159-C-T c.128C>T p.T43I Missense 1/7 - 2
17-42082170-CGC-TGG c.139_141delinsTGG p.R47W Missense 1/7 - 1
17-42082174-G-A c.143G>A p.R48Q Missense 1/7 - 1
17-42082191-TC-AG c.160_161delinsAG p.S54R Missense 1/7 - 1
17-42082192-C-A c.161C>A p.S54* Nonsense 1/7 - 1
17-42082195-A-G c.164A>G p.Q55R Missense 1/7 - 1
17-42082196-G-A c.165G>A p.Q55= Synonymous 1/7 - 1
17-42082212-G-A c.181G>A p.E61K Missense 1/7 - 1
17-42082212-G-C c.181G>C p.E61Q Missense 1/7 - 1
17-42082213-A-G c.182A>G p.E61G Missense 1/7 - 4
17-42082213-A-T c.182A>T p.E61V Missense 1/7 - 1
17-42082224-G-A c.193G>A p.G65S Missense 1/7 - 1
17-42082232-C-A c.201C>A p.D67E Missense 1/7 - 1
17-42082240-C-T c.209C>T p.S70F Missense 1/7 - 1
17-42082245-T-C c.214T>C p.S72P Missense 1/7 - 1
17-42082252-GTC-G c.221_222del p.V74Gfs*221 Frameshift 1/7 - 1
17-42082257-G-A c.226G>A p.E76K Missense 1/7 - 1
17-42082264-C-T c.233C>T p.P78L Missense 1/7 - 1
17-42082267-C-A c.236C>A p.S79* Nonsense 1/7 - 1
17-42082272-G-C c.241G>C p.V81L Missense 1/7 - 5
17-42082272-G-T c.241G>T p.V81L Missense 1/7 - 5
17-42082277-G-C c.246G>C p.P82= Synonymous 1/7 - 1
17-42082280-T-C c.249T>C p.S83= Synonymous 1/7 - 1
17-42082305-TC-T c.278del p.P93Qfs*18 Frameshift 1/7 - 2
17-42082309-C-CA c.279dup p.E94Rfs*202 Frameshift 1/7 - 1
17-42082312-A-C c.281A>C p.E94A Missense 1/7 - 1
17-42082317-C-T c.286C>T p.P96S Missense 1/7 - 1
17-42082319-T-A c.288T>A p.P96= Synonymous 1/7 - 1
17-42082319-T-C c.288T>C p.P96= Synonymous 1/7 - 1
17-42082319-T-G c.288T>G p.P96= Synonymous 1/7 - 1
17-42082324-G-A c.293G>A p.G98D Missense 1/7 - 1
17-42082328-C-A c.297C>A p.R99= Synonymous 1/7 - 1
17-42082328-C-G c.297C>G p.R99= Synonymous 1/7 - 1
17-42082328-C-T c.297C>T p.R99= Synonymous 1/7 - 2
17-42082329-T-C c.298T>C p.S100P Missense 1/7 - 3
17-42082330-C-A c.299C>A p.S100* Nonsense 1/7 - 1
17-42082330-C-G c.299C>G p.S100W Missense 1/7 - 1
17-42082339-A-C c.308A>C p.Q103P Missense 1/7 - 1
17-42082344-G-A c.313G>A p.D105N Missense 1/7 - 1
17-42082347-A-C c.316A>C p.I106L Missense 1/7 - 1
17-42082349-C-G c.318C>G p.I106M Missense 1/7 - 1
17-42082352-G-C c.321G>C p.Q107H Missense 1/7 - 1
17-42082352-G-T c.321G>T p.Q107H Missense 1/7 - 1
17-42082355-C-A c.324C>A p.A108= Synonymous 1/7 - 1
17-42082355-C-G c.324C>G p.A108= Synonymous 1/7 - 1
17-42082355-C-T c.324C>T p.A108= Synonymous 1/7 - 1
17-42082353-GCCTT-G c.326_329del p.F109* Frameshift 1/7 - 1
17-42082362-A-G c.331A>G p.N111D Missense 1/7 - 1
17-42082366-A-C c.335A>C p.Q112P Missense 1/7 - 1
17-42082369-G-A c.338G>A p.C113Y Missense 1/7 - 1
17-42082370-C-T c.339C>T p.C113= Synonymous 1/7 - 1
17-42082372-G-C c.341G>C p.G114A Missense 1/7 - 1
17-42082375-C-T c.344C>T p.A115V Missense 1/7 - 1
17-42082381-C-T c.350C>T p.P117L Missense 1/7 - 1
17-42082391-G-T c.360G>T p.A120= Synonymous 1/7 - 1
17-42082393-G-T c.362G>T p.R121L Missense 1/7 - 1
17-42082400-G-A c.369G>A p.W123* Nonsense 1/7 - 1
17-42082405-C-A c.374C>A p.T125K Missense 1/7 - 7
17-42082416-A-T c.385A>T p.T129S Missense 1/7 - 1
17-42082417-C-G c.386C>G p.T129S Missense 1/7 - 2
17-42082425-C-T c.394C>T p.H132Y Missense 1/7 - 1
17-42082434-G-C c.403G>C p.D135H Missense 1/7 - 1
17-42082443-T-C c.412T>C p.F138L Missense 1/7 - 1
17-42082452-A-G c.421A>G p.I141V Missense 1/7 - 1
17-42082454-C-A c.423C>A p.I141= Synonymous 1/7 - 1
17-42082454-C-T c.423C>T p.I141= Synonymous 1/7 - 1
17-42082455-G-T c.424G>T p.E142* Nonsense 1/7 - 1
17-42082460-G-C c.426+3G>C - IntronicSNV - 1/6 1
17-42082509-G-A c.426+52G>A - IntronicSNV - 1/6 1
17-42082509-G-T c.426+52G>T - IntronicSNV - 1/6 1
17-42082641-C-A c.426+184C>A - IntronicSNV - 1/6 1
17-42082641-C-T c.426+184C>T - IntronicSNV - 1/6 1
17-42082681-T-A c.426+224T>A - IntronicSNV - 1/6 4
17-42083005-G-A c.427G>A p.V143M Missense 2/7 - 1
17-42083011-G-A c.433G>A p.E145K Missense 2/7 - 3
17-42083014-G-A c.436G>A p.E146K Missense 2/7 - 1
17-42083016-G-C c.438G>C p.E146D Missense 2/7 - 1
17-42083016-G-T c.438G>T p.E146D Missense 2/7 - 1
17-42083021-T-C c.443T>C p.L148P Missense 2/7 - 1
17-42083031-G-A c.453G>A p.Q151= Synonymous 2/7 - 1
17-42083042-C-T c.464C>T p.S155F Missense 2/7 - 1
17-42083050-G-C c.472G>C p.A158P Missense 2/7 - 1
17-42083051-CC-AG c.473_474delinsAG p.A158E Missense 2/7 - 1
17-42083057-C-A c.479C>A p.A160D Missense 2/7 - 1
17-42083062-G-A c.484G>A p.A162T Missense 2/7 - 1
17-42083065-T-G c.487T>G p.F163V Missense 2/7 - 4
17-42083066-T-A c.488T>A p.F163Y Missense 2/7 - 1
17-42083074-C-A c.496C>A p.R166S Missense 2/7 - 1
17-42083074-C-T c.496C>T p.R166C Missense 2/7 - 2
17-42083077-A-G c.499A>G p.M167V Missense 2/7 - 4
17-42083082-C-T c.504C>T p.D168= Synonymous 2/7 - 1
17-42083083-A-C c.505A>C p.M169L Missense 2/7 - 4
17-42083083-A-T c.505A>T p.M169L Missense 2/7 - 4
17-42083091-G-A c.513G>A p.P171= Synonymous 2/7 - 3
17-42083096-T-A c.518T>A p.V173E Missense 2/7 - 3
17-42083105-G-T c.527G>T p.G176V Missense 2/7 - 1
17-42083115-C-T c.537C>T p.A179= Synonymous 2/7 - 2
17-42083119-A-G c.541A>G p.T181A Missense 2/7 - 3
17-42083120-C-G c.542C>G p.T181R Missense 2/7 - 1
17-42083120-C-T c.542C>T p.T181M Missense 2/7 - 2
17-42083122-G-A c.544G>A p.A182T Missense 2/7 - 1
17-42083123-GC-G c.545del p.A182Vfs*23 Frameshift 2/7 - 1
17-42083124-T-C c.546T>C p.A182= Synonymous 2/7 - 1
17-42083125-C-T c.547C>T p.P183S Missense 2/7 - 4
17-42083131-G-A c.553G>A p.G185S Missense 2/7 - 1
17-42083141-C-A c.563C>A p.S188Y Missense 2/7 - 1
17-42083148-G-A c.570G>A p.W190* Nonsense 2/7 - 1
17-42083148-G-T c.570G>T p.W190C Missense 2/7 - 1
17-42083149-G-T c.571G>T p.E191* Nonsense 2/7 - 1
17-42083161-C-T c.583C>T p.Q195* Nonsense 2/7 - 1
17-42083174-G-C c.596G>C p.S199T Missense 2/7 - 1
17-42083176-T-C c.598T>C p.C200R Missense 2/7 - 5
17-42083181-G-C c.603G>C p.K201N Missense 2/7 - 3
17-42083181-G-T c.603G>T p.K201N Missense 2/7 - 2
17-42083182-G-A c.604G>A p.V202M Missense 2/7 - 1
17-42083189-T-C c.611T>C p.V204A Missense 2/7 - 1
17-42083191-G-A c.613G>A p.D205N Missense 2/7 - 1
17-42083200-C-T c.622C>T p.R208* Nonsense 2/7 - 2
17-42083216-C-T c.638C>T p.A213V Missense 2/7 - 1
17-42083223-TG-T c.645del p.P216Hfs*62 Frameshift 2/7 - 1
17-42083226-AT-A c.654del p.F218Lfs*60 Frameshift 2/7 - 1
17-42083248-C-T c.670C>T p.L224= Synonymous 2/7 - 1
17-42083250-A-C c.672A>C p.L224= Synonymous 2/7 - 1
17-42083250-A-G c.672A>G p.L224= Synonymous 2/7 - 1
17-42083250-A-T c.672A>T p.L224= Synonymous 2/7 - 1
17-42083251-C-A c.673C>A p.R225S Missense 2/7 - 1
17-42083254-G-A c.676G>A p.A226T Missense 2/7 - 1
17-42083255-C-T c.677C>T p.A226V Missense 2/7 - 1
17-42083260-G-A c.682G>A p.E228K Missense 2/7 - 2
17-42083261-A-G c.683A>G p.E228G Missense 2/7 - 1
17-42083266-G-A c.688G>A p.A230T Missense 2/7 - 1
17-42083275-GC-TG c.697_698delinsTG p.A233C Missense 2/7 - 1
17-42083276-C-G c.698C>G p.A233G Missense 2/7 - 1
17-42083276-C-T c.698C>T p.A233V Missense 2/7 - 2
17-42083279-G-A c.701G>A p.S234N Missense 2/7 - 2
17-42083280-G-A c.701+1G>A - IntronicSNV - 2/6 1
17-42083393-T-TA c.704dup p.Y235* Nonsense 3/7 - 1
17-42083396-G-A c.706G>A p.G236S Missense 3/7 - 1
17-42083396-G-T c.706G>T p.G236C Missense 3/7 - 3
17-42083397-G-A c.707G>A p.G236D Missense 3/7 - 1
17-42083409-C-A c.719C>A p.S240* Nonsense 3/7 - 1
17-42083409-C-T c.719C>T p.S240L Missense 3/7 - 1
17-42083412-T-C c.722T>C p.V241A Missense 3/7 - 3
17-42083414-G-A c.724G>A p.E242K Missense 3/7 - 3
17-42083429-C-T c.739C>T p.Q247* Nonsense 3/7 - 2
17-42083441-G-A c.751G>A p.E251K Missense 3/7 - 1
17-42083445-C-T c.755C>T p.S252L Missense 3/7 - 1
17-42083469-C-T c.779C>T p.P260L Missense 3/7 - 1
17-42083472-T-A c.782T>A p.I261N Missense 3/7 - 1
17-42083473-C-T c.783C>T p.I261= Synonymous 3/7 - 1
17-42083477-G-T c.787G>T p.E263* Nonsense 3/7 - 1
17-42083479-G-C c.789G>C p.E263D Missense 3/7 - 1
17-42083479-G-T c.789G>T p.E263D Missense 3/7 - 1
17-42083481-C-A c.791C>A p.T264K Missense 3/7 - 1
17-42083481-C-T c.791C>T p.T264M Missense 3/7 - 1
17-42083482-G-A c.792G>A p.T264= Synonymous 3/7 - 1
17-42083482-G-C c.792G>C p.T264= Synonymous 3/7 - 1
17-42083482-G-T c.792G>T p.T264= Synonymous 3/7 - 1
17-42083483-G-A c.793G>A p.A265T Missense 3/7 - 1
17-42083487-C-T c.797C>T p.A266V Missense 3/7 - 3
17-42083499-T-A c.809T>A p.V270E Missense 3/7 - 3
17-42083500-G-T c.810G>T p.V270= Synonymous 3/7 - 1
17-42083506-C-A c.816C>A p.L272= Synonymous 3/7 - 1
17-42083506-C-G c.816C>G p.L272= Synonymous 3/7 - 1
17-42083506-C-T c.816C>T p.L272= Synonymous 3/7 - 1
17-42083508-A-G c.818A>G p.D273G Missense 3/7 - 1
17-42083512-C-T c.822C>T p.S274= Synonymous 3/7 - 1
17-42083513-C-A c.823C>A p.L275M Missense 3/7 - 1
17-42083516-G-A c.826G>A p.E276K Missense 3/7 - 1
17-42083519-G-C c.829G>C p.V277L Missense 3/7 - 1
17-42083521-G-A c.831G>A p.V277= Synonymous 3/7 - 1
17-42083525-G-A c.835G>A p.A279T Missense 3/7 - 6
17-42083525-G-C c.835G>C p.A279P Missense 3/7 - 3
17-42083532-T-C c.842T>C p.L281P Missense 3/7 - 1
17-42083539-G-T c.849G>T p.K283N Missense 3/7 - 1
17-42083544-T-C c.854T>C p.L285P Missense 3/7 - 1
17-42083543-C-T c.853C>T p.L285= Synonymous 3/7 - 1
17-42083545-G-A c.855G>A p.L285= Synonymous 3/7 - 1
17-42083545-G-C c.855G>C p.L285= Synonymous 3/7 - 1
17-42083545-G-T c.855G>T p.L285= Synonymous 3/7 - 1
17-42083553-C-T c.863C>T p.T288I Missense 3/7 - 2
17-42083559-T-C c.869T>C p.I290T Missense 3/7 - 2
17-42083560-C-G c.870C>G p.I290M Missense 3/7 - 1
17-42083562-T-A c.872T>A p.I291N Missense 3/7 - 1
17-42083563-C-G c.873C>G p.I291M Missense 3/7 - 1
17-42083566-C-G c.876C>G p.F292L Missense 3/7 - 1
17-42083567-C-T c.877C>T p.L293F Missense 3/7 - 2
17-42083570-A-T c.880A>T p.N294Y Missense 3/7 - 2
17-42083571-A-G c.881A>G p.N294S Missense 3/7 - 1
17-42083575-C-T c.885C>T p.N295= Synonymous 3/7 - 1
17-42083576-A-G c.886A>G p.T296A Missense 3/7 - 1
17-42083582-G-A c.892G>A p.G298S Missense 3/7 - 1
17-42083585-C-A c.895C>A p.L299M Missense 3/7 - 1
17-42083591-G-A c.901G>A p.D301N Missense 3/7 - 1
17-42083591-G-C c.901G>C p.D301H Missense 3/7 - 1
17-42083598-G-T c.908G>T p.S303I Missense 3/7 - 1
17-42083599-T-G c.909T>G p.S303R Missense 3/7 - 1
17-42083601-A-G c.911A>G p.H304R Missense 3/7 - 1
17-42083606-G-T c.915+1G>T - IntronicSNV - 3/6 1
17-42083634-C-T c.915+29C>T - IntronicSNV - 3/6 1
17-42083840-T-C c.916-57T>C - IntronicSNV - 3/6 9
17-42083910-T-C c.929T>C p.V310A Missense 4/7 - 3
17-42083916-T-C c.935T>C p.L312P Missense 4/7 - 3
17-42083917-G-A c.936G>A p.L312= Synonymous 4/7 - 1
17-42083921-G-A c.940G>A p.A314T Missense 4/7 - 3
17-42083944-C-T c.963C>T p.N321= Synonymous 4/7 - 1
17-42083946-C-T c.965C>T p.A322V Missense 4/7 - 1
17-42083948-CG-C c.967del p.E323Sfs*3 Frameshift 4/7 - 1
17-42083952-G-A c.971G>A p.W324* Nonsense 4/7 - 7
17-42083953-G-A c.972G>A p.W324* Nonsense 4/7 - 4
17-42083954-G-C c.973G>C p.V325L Missense 4/7 - 1
17-42083954-G-T c.973G>T p.V325L Missense 4/7 - 1
17-42083955-T-C c.974T>C p.V325A Missense 4/7 - 1
17-42083959-C-T c.978C>T p.S326= Synonymous 4/7 - 3
17-42083959-C-CA c.979dup p.T327Nfs*29 Frameshift 4/7 - 1
17-42083966-G-C c.985G>C p.E329Q Missense 4/7 - 1
17-42083969-CGG-TGT c.988_990delinsTGT p.R330C Missense 4/7 - 1
17-42083972-C-T c.991C>T p.Q331* Nonsense 4/7 - 2
17-42083984-C-T c.1003C>T p.L335F Missense 4/7 - 1
17-42083993-G-T c.1012G>T p.D338Y Missense 4/7 - 1
17-42083999-C-T c.1018C>T p.L340F Missense 4/7 - 1
17-42084001-C-A c.1020C>A p.L340= Synonymous 4/7 - 1
17-42084001-C-G c.1020C>G p.L340= Synonymous 4/7 - 1
17-42084001-C-T c.1020C>T p.L340= Synonymous 4/7 - 1
17-42084002-A-T c.1021A>T p.S341C Missense 4/7 - 1
17-42084004-C-T c.1023C>T p.S341= Synonymous 4/7 - 1
17-42084005-C-T c.1024C>T p.R342C Missense 4/7 - 1
17-42084006-CG-C c.1025del p.R342Pfs*50 Frameshift 4/7 - 2
17-42084015-A-AC c.1036dup p.H346Pfs*10 Frameshift 4/7 - 2
17-42084020-T-G c.1039T>G p.S347A Missense 4/7 - 1
17-42084029-G-A c.1048G>A p.V350I Missense 4/7 - 4
17-42084041-G-A c.1060G>A p.A354T Missense 4/7 - 4
17-42084044-A-C c.1063A>C p.S355R Missense 4/7 - 1
17-42084046-C-A c.1065C>A p.S355R Missense 4/7 - 1
17-42084046-C-G c.1065C>G p.S355R Missense 4/7 - 1
17-42084048-C-T c.1067C>T p.T356M Missense 4/7 - 1
17-42084050-C-G c.1069C>G p.L357V Missense 4/7 - 1
17-42084059-G-T c.1078G>T p.E360* Nonsense 4/7 - 1
17-42084061-G-T c.1080G>T p.E360D Missense 4/7 - 1
17-42084067-T-C c.1086T>C p.F362= Synonymous 4/7 - 12
17-42084069-G-A c.1088G>A p.S363N Missense 4/7 - 1
17-42084073-C-A c.1092C>A p.N364K Missense 4/7 - 1
17-42084097-C-A c.1096+20C>A - IntronicSNV - 4/6 4
17-42084097-C-G c.1096+20C>G - IntronicSNV - 4/6 5
17-42084326-GC-G c.1096+255del - IntronicDeletion - 4/6 1
17-42084377-G-A c.1096+300G>A - IntronicSNV - 4/6 4
17-42084455-C-T c.1097-236C>T - IntronicSNV - 4/6 1
17-42084692-G-A c.1098G>A p.G366= Synonymous 5/7 - 1
17-42084694-C-T c.1100C>T p.S367F Missense 5/7 - 1
17-42084700-C-T c.1106C>T p.T369I Missense 5/7 - 1
17-42084707-C-A c.1113C>A p.F371L Missense 5/7 - 1
17-42084715-C-G c.1121C>G p.A374G Missense 5/7 - 1
17-42084717-G-A c.1123G>A p.E375K Missense 5/7 - 1
17-42084721-G-A c.1127G>A p.R376Q Missense 5/7 - 1
17-42084729-C-T c.1135C>T p.R379W Missense 5/7 - 1
17-42084733-T-A c.1139T>A p.V380E Missense 5/7 - 1
17-42084743-GG-AA c.1149_1150delinsAA p.D384N Missense 5/7 - 1
17-42084744-G-A c.1150G>A p.D384N Missense 5/7 - 4
17-42084746-C-A c.1152C>A p.D384E Missense 5/7 - 2
17-42084746-C-G c.1152C>G p.D384E Missense 5/7 - 3
17-42084748-A-C c.1154A>C p.K385T Missense 5/7 - 1
17-42084748-A-G c.1154A>G p.K385R Missense 5/7 - 1
17-42084749-G-A c.1155G>A p.K385= Synonymous 5/7 - 1
17-42084750-C-T c.1156C>T p.L386= Synonymous 5/7 - 1
17-42084752-G-A c.1158G>A p.L386= Synonymous 5/7 - 1
17-42084752-G-C c.1158G>C p.L386= Synonymous 5/7 - 1
17-42084752-G-T c.1158G>T p.L386= Synonymous 5/7 - 1
17-42084762-C-T c.1168C>T p.R390C Missense 5/7 - 1
17-42084763-CG-C c.1169del p.R390Lfs*2 Frameshift 5/7 - 1
17-42084765-C-G c.1171C>G p.L391V Missense 5/7 - 1
17-42084766-T-G c.1172T>G p.L391R Missense 5/7 - 1
17-42084768-G-GA c.1174_1175insA p.V392Dfs*99 Frameshift 5/7 - 1
17-42084768-G-T c.1174G>T p.V392L Missense 5/7 - 1
17-42084769-T-A c.1175T>A p.V392E Missense 5/7 - 1
17-42084769-T-C c.1175T>C p.V392A Missense 5/7 - 1
17-42084771-G-A c.1177G>A p.D393N Missense 5/7 - 1
17-42084778-T-TC c.1185dup p.N396Qfs*95 Frameshift 5/7 - 1
17-42084781-A-T c.1187A>T p.N396I Missense 5/7 - 1
17-42084786-A-T c.1192A>T p.S398C Missense 5/7 - 2
17-42084788-C-T c.1194C>T p.S398= Synonymous 5/7 - 2
17-42084793-G-C c.1199G>C p.G400A Missense 5/7 - 1
17-42084800-G-A c.1206G>A p.K402= Synonymous 5/7 - 1
17-42084807-G-A c.1213G>A p.D405N Missense 5/7 - 1
17-42084810-G-A c.1216G>A p.D406N Missense 5/7 - 3
17-42084813-T-G c.1219T>G p.Y407D Missense 5/7 - 1
17-42084822-T-C c.1228T>C p.S410P Missense 5/7 - 7
17-42084823-C-T c.1229C>T p.S410L Missense 5/7 - 1
17-42084825-C-A c.1231C>A p.L411M Missense 5/7 - 3
17-42084828-C-T c.1234C>T p.R412C Missense 5/7 - 2
17-42084833-G-A c.1239G>A p.P413= Synonymous 5/7 - 1
17-42084835-G-C c.1241G>C p.R414P Missense 5/7 - 2
17-42084844-C-T c.1250C>T p.S417F Missense 5/7 - 1
17-42084846-A-G c.1252A>G p.I418V Missense 5/7 - 1
17-42084847-T-C c.1253T>C p.I418T Missense 5/7 - 1
17-42084852-G-A c.1258G>A p.V420I Missense 5/7 - 4
17-42084854-TC-T c.1260del p.S421Pfs*10 Frameshift 5/7 - 1
17-42084855-T-G c.1261T>G p.S421A Missense 5/7 - 1
17-42084857-C-A c.1263C>A p.S421= Synonymous 5/7 - 1
17-42084857-C-G c.1263C>G p.S421= Synonymous 5/7 - 1
17-42084857-C-T c.1263C>T p.S421= Synonymous 5/7 - 2
17-42084858-G-A c.1264G>A p.E422K Missense 5/7 - 2
17-42084858-G-T c.1264G>T p.E422* Nonsense 5/7 - 3
17-42084859-A-C c.1265A>C p.E422A Missense 5/7 - 2
17-42084861-G-A c.1267G>A p.G423R Missense 5/7 - 3
17-42084864-T-C c.1268+2T>C - IntronicSNV - 5/6 4
17-42084873-G-A c.1268+11G>A - IntronicSNV - 5/6 1
17-42084907-G-A c.1268+45G>A - IntronicSNV - 5/6 1
17-42084940-C-A c.1269-19C>A - IntronicSNV - 5/6 1
17-42084943-T-TC c.1269-15dup - IntronicInsertion - 5/6 1
17-42084958-G-C c.1269-1G>C - IntronicSNV - 5/6 2
17-42084962-C-G c.1272C>G p.Y424* Nonsense 6/7 - 1
17-42084970-C-T c.1280C>T p.A427V Missense 6/7 - 1
17-42084979-T-C c.1289T>C p.L430P Missense 6/7 - 11
17-42084978-C-T c.1288C>T p.L430= Synonymous 6/7 - 1
17-42084980-G-A c.1290G>A p.L430= Synonymous 6/7 - 1
17-42084980-G-C c.1290G>C p.L430= Synonymous 6/7 - 2
17-42084980-G-T c.1290G>T p.L430= Synonymous 6/7 - 1
17-42084981-AC-CT c.1291_1292delinsCT p.T431L Missense 6/7 - 1
17-42084982-C-T c.1292C>T p.T431I Missense 6/7 - 3
17-42084985-T-C c.1295T>C p.M432T Missense 6/7 - 1
17-42084987-GA-TC c.1297_1298inv p.E433S Missense 6/7 - 2
17-42084988-A-C c.1298A>C p.E433A Missense 6/7 - 1
17-42084988-A-G c.1298A>G p.E433G Missense 6/7 - 3
17-42084989-G-C c.1299G>C p.E433D Missense 6/7 - 2
17-42084989-G-T c.1299G>T p.E433D Missense 6/7 - 2
17-42084990-C-A c.1300C>A p.P434T Missense 6/7 - 1
17-42084992-C-T c.1302C>T p.P434= Synonymous 6/7 - 1
17-42084996-C-CT c.1307dup p.T439Hfs*52 Frameshift 6/7 - 2
17-42085001-G-A c.1311G>A p.G437= Synonymous 6/7 - 1
17-42084997-TG-T c.1313del p.G438Afs*10 Frameshift 6/7 - 1
17-42084997-T-TG c.1313dup p.T439Hfs*52 Frameshift 6/7 - 3
17-42085005-A-AC c.1319dup p.Y441Vfs*50 Frameshift 6/7 - 1
17-42085009-C-T c.1319C>T p.P440L Missense 6/7 - 1
17-42085011-T-C c.1321T>C p.Y441H Missense 6/7 - 1
17-42085012-A-T c.1322A>T p.Y441F Missense 6/7 - 1
17-42085013-C-G c.1323C>G p.Y441* Nonsense 6/7 - 1
17-42085014-C-G c.1324C>G p.L442V Missense 6/7 - 4
17-42085026-G-A c.1336G>A p.V446M Missense 6/7 - 1
17-42085030-T-G c.1340T>G p.V447G Missense 6/7 - 1
17-42085040-C-T c.1350C>T p.S450= Synonymous 6/7 - 1
17-42085041-C-T c.1351C>T p.R451C Missense 6/7 - 1
17-42085046-G-T c.1356G>T p.Q452H Missense 6/7 - 1
17-42085047-G-A c.1357G>A p.G453S Missense 6/7 - 1
17-42085048-G-A c.1358G>A p.G453D Missense 6/7 - 1
17-42085053-GGC-TGA c.1363_1365delinsTGA p.G455* Nonsense 6/7 - 2
17-42085055-C-A c.1365C>A p.G455= Synonymous 6/7 - 3
17-42085055-C-G c.1365C>G p.G455= Synonymous 6/7 - 2
17-42085055-C-T c.1365C>T p.G455= Synonymous 6/7 - 2
17-42085057-C-T c.1367C>T p.S456F Missense 6/7 - 1
17-42085058-C-G c.1368C>G p.S456= Synonymous 6/7 - 1
17-42085058-C-T c.1368C>T p.S456= Synonymous 6/7 - 1
17-42085059-G-A c.1369G>A p.G457S Missense 6/7 - 1
17-42085060-G-A c.1370G>A p.G457D Missense 6/7 - 1
17-42085061-C-A c.1371C>A p.G457= Synonymous 6/7 - 1
17-42085061-C-G c.1371C>G p.G457= Synonymous 6/7 - 1
17-42085061-C-T c.1371C>T p.G457= Synonymous 6/7 - 1
17-42085074-G-C c.1384G>C p.E462Q Missense 6/7 - 2
17-42085084-G-A c.1394G>A p.R465Q Missense 6/7 - 1
17-42085089-G-T c.1399G>T p.D467Y Missense 6/7 - 1
17-42085099-C-T c.1409C>T p.T470I Missense 6/7 - 1
17-42085101-C-T c.1411C>T p.L471F Missense 6/7 - 1
17-42085117-G-A c.1427G>A p.R476Q Missense 6/7 - 1
17-42085117-G-C c.1427G>C p.R476P Missense 6/7 - 1
17-42085125-AA-GC c.1435_1436delinsGC p.N479A Missense 6/7 - 1
17-42085136-T-A c.1446T>A p.N482K Missense 6/7 - 1
17-42085140-T-A c.1450T>A p.W484R Missense 6/7 - 7
17-42085140-T-C c.1450T>C p.W484R Missense 6/7 - 10
17-42085146-G-A c.1451+5G>A - IntronicSNV - 6/6 1
17-42085150-T-C c.1451+9T>C - IntronicSNV - 6/6 14
17-42085352-G-C c.1451+211G>C - IntronicSNV - 6/6 4
17-42085818-A-T c.1454A>T p.Y485F Missense 7/7 - 1
17-42085825-A-C c.1461A>C p.K487N Missense 7/7 - 1
17-42085824-AAC-A c.1464_1465del p.H488Qfs*2 Frameshift 7/7 - 2
17-42085836-G-C c.1472G>C p.G491A Missense 7/7 - 1
17-42085837-C-T c.1473C>T p.G491= Synonymous 7/7 - 1
17-42085841-T-C c.1477T>C p.F493L Missense 7/7 - 2
17-42085843-C-G c.1479C>G p.F493L Missense 7/7 - 2
17-42085843-C-A c.1479C>A p.F493L Missense 7/7 - 4
17-42085845-C-G c.1481C>G p.S494C Missense 7/7 - 1
17-42085849-C-T c.1485C>T p.N495= Synonymous 7/7 - 1
17-42085851-A-T c.1487A>T p.K496M Missense 7/7 - 1
17-42085852-G-A c.1488G>A p.K496= Synonymous 7/7 - 1
17-42085853-C-T c.1489C>T p.Q497* Nonsense 7/7 - 1
17-42085856-T-C c.1492T>C p.W498R Missense 7/7 - 3
17-42085857-G-T c.1493G>T p.W498L Missense 7/7 - 1
17-42085858-G-A c.1494G>A p.W498* Nonsense 7/7 - 1
17-42085859-A-G c.1495A>G p.I499V Missense 7/7 - 1
17-42085864-C-G c.1500C>G p.F500L Missense 7/7 - 1
17-42085864-C-T c.1500C>T p.F500= Synonymous 7/7 - 1
17-42085865-T-A c.1501T>A p.F501I Missense 7/7 - 1
17-42085865-T-C c.1501T>C p.F501L Missense 7/7 - 3
17-42085867-C-A c.1503C>A p.F501L Missense 7/7 - 2
17-42085867-C-G c.1503C>G p.F501L Missense 7/7 - 2
17-42085859-ATCT-A c.1502_1504del p.F501del InFrameDeletion 7/7 - 2
17-42085872-T-C c.1508T>C p.F503S Missense 7/7 - 1
17-42085878-T-G c.1514T>G p.L505R Missense 7/7 - 1
17-42085881-C-G c.1517C>G p.A506G Missense 7/7 - 1
17-42085889-C-T c.1525C>T p.R509W Missense 7/7 - 2
17-42085890-G-A c.1526G>A p.R509Q Missense 7/7 - 6
17-42085896-C-T c.1532C>T p.S511F Missense 7/7 - 4
17-42085899-A-G c.1535A>G p.Y512C Missense 7/7 - 1
17-42085912-C-A c.1548C>A p.N516K Missense 7/7 - 5
17-42085912-C-G c.1548C>G p.N516K Missense 7/7 - 3
17-42085915-C-G c.1551C>G p.H517Q Missense 7/7 - 1
17-42085916-G-A c.1552G>A p.A518T Missense 7/7 - 9
17-42085917-C-T c.1553C>T p.A518V Missense 7/7 - 3
17-42085925-C-G c.1561C>G p.L521V Missense 7/7 - 4
17-42085929-C-A c.1565C>A p.P522Q Missense 7/7 - 1
17-42085931-G-T c.1567G>T p.D523Y Missense 7/7 - 1
17-42085935-C-A c.1571C>A p.S524Y Missense 7/7 - 1
17-42085935-C-T c.1571C>T p.S524F Missense 7/7 - 1
17-42085940-C-T c.1576C>T p.H526Y Missense 7/7 - 1
17-42085947-C-T c.1583C>T p.P528L Missense 7/7 - 1
17-42085957-C-T c.1593C>T p.D531= Synonymous 7/7 - 1
17-42085958-C-G c.1594C>G p.P532A Missense 7/7 - 1
17-42085962-G-A c.1598G>A p.G533D Missense 7/7 - 1
17-42085972-C-A c.*3C>A - 3-UTRSNV 7/7 - 17
17-42085972-C-T c.*3C>T - 3-UTRSNV 7/7 - 17
17-42085978-A-G c.*9A>G - 3-UTRSNV 7/7 - 1
17-42086180-C-T c.*211C>T - 3-UTRSNV 7/7 - 9