UNC5B

UNC5B unc-5 netrin receptor B

Annotation transcript: NM_170744.5

1168 unique variant annotations were identified in 415 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
10-72972743-A-T c.1A>T p.M1? Missense 1/17 - 1
10-72972751-C-A c.9C>A p.A3= Synonymous 1/17 - 1
10-72972751-C-G c.9C>G p.A3= Synonymous 1/17 - 1
10-72972751-C-T c.9C>T p.A3= Synonymous 1/17 - 1
10-72972761-G-T c.19G>T p.A7S Missense 1/17 - 1
10-72972770-GC-AT c.28_29delinsAT p.A10M Missense 1/17 - 1
10-72972771-C-A c.29C>A p.A10E Missense 1/17 - 1
10-72972772-G-A c.30G>A p.A10= Synonymous 1/17 - 1
10-72972772-G-C c.30G>C p.A10= Synonymous 1/17 - 1
10-72972772-G-T c.30G>T p.A10= Synonymous 1/17 - 1
10-72972782-G-A c.40G>A p.A14T Missense 1/17 - 1
10-72972782-G-C c.40G>C p.A14P Missense 1/17 - 1
10-72972782-GC-CA c.40_41delinsCA p.A14Q Missense 1/17 - 1
10-72972782-G-T c.40G>T p.A14S Missense 1/17 - 1
10-72972805-G-A c.63G>A p.P21= Synonymous 1/17 - 1
10-72972807-G-A c.65G>A p.R22K Missense 1/17 - 1
10-72972809-C-T c.67C>T p.L23= Synonymous 1/17 - 1
10-72972812-A-C c.70A>C p.S24R Missense 1/17 - 1
10-72972814-C-A c.72C>A p.S24R Missense 1/17 - 1
10-72972814-C-G c.72C>G p.S24R Missense 1/17 - 1
10-72972818-GCA-CAT c.76_78delinsCAT p.A26H Missense 1/17 - 1
10-72972818-GC-AT c.76_77delinsAT p.A26I Missense 1/17 - 1
10-72972818-GCA-TAT c.76_78delinsTAT p.A26Y Missense 1/17 - 1
10-72972818-GCA-TGT c.76_78delinsTGT p.A26C Missense 1/17 - 1
10-72972818-GC-TA c.76_77delinsTA p.A26* Nonsense 1/17 - 1
10-72972819-C-G c.77C>G p.A26G Missense 1/17 - 1
10-72974684-C-T c.79+1863C>T - IntronicSNV - 1/16 1
10-72974710-C-T c.79+1889C>T - IntronicSNV - 1/16 1
10-72982900-C-T c.79+10079C>T - IntronicSNV - 1/16 1
10-72982985-G-A c.79+10164G>A - IntronicSNV - 1/16 4
10-72982985-G-T c.79+10164G>T - IntronicSNV - 1/16 4
10-72986402-A-C c.79+13581A>C - IntronicSNV - 1/16 1
10-72990813-G-T c.79+17992G>T - IntronicSNV - 1/16 1
10-72994515-C-T c.79+21694C>T - IntronicSNV - 1/16 1
10-72995627-G-A c.79+22806G>A - IntronicSNV - 1/16 1
10-72998221-G-A c.79+25400G>A - IntronicSNV - 1/16 1
10-73000021-C-T c.79+27200C>T - IntronicSNV - 1/16 1
10-73001344-G-A c.79+28523G>A - IntronicSNV - 1/16 1
10-73001953-C-T c.79+29132C>T - IntronicSNV - 1/16 1
10-73002189-C-T c.79+29368C>T - IntronicSNV - 1/16 1
10-73008857-A-C c.80-30721A>C - IntronicSNV - 1/16 2
10-73008857-A-T c.80-30721A>T - IntronicSNV - 1/16 2
10-73018019-T-C c.80-21559T>C - IntronicSNV - 1/16 1
10-73019759-G-A c.80-19819G>A - IntronicSNV - 1/16 2
10-73019759-G-C c.80-19819G>C - IntronicSNV - 1/16 2
10-73020768-A-G c.80-18810A>G - IntronicSNV - 1/16 1
10-73020768-A-T c.80-18810A>T - IntronicSNV - 1/16 1
10-73023736-A-C c.80-15842A>C - IntronicSNV - 1/16 1
10-73036643-G-GAC c.80-2933_80-2932dup - IntronicInsertion - 1/16 1
10-73039491-G-A c.80-87G>A - IntronicSNV - 1/16 4
10-73039584-A-C c.86A>C p.D29A Missense 2/17 - 1
10-73039587-C-G c.89C>G p.S30C Missense 2/17 - 1
10-73039587-CT-AA c.89_90delinsAA p.S30* Nonsense 2/17 - 2
10-73039588-TG-T c.92del p.G31Afs*30 Frameshift 2/17 - 1
10-73039590-G-A c.92G>A p.G31D Missense 2/17 - 1
10-73039590-G-C c.92G>C p.G31A Missense 2/17 - 1
10-73039593-G-C c.95G>C p.S32T Missense 2/17 - 5
10-73039593-G-T c.95G>T p.S32I Missense 2/17 - 1
10-73039597-G-C c.99G>C p.E33D Missense 2/17 - 1
10-73039597-G-T c.99G>T p.E33D Missense 2/17 - 2
10-73039599-T-C c.101T>C p.V34A Missense 2/17 - 1
10-73039600-G-A c.102G>A p.V34= Synonymous 2/17 - 1
10-73039600-G-C c.102G>C p.V34= Synonymous 2/17 - 1
10-73039600-G-T c.102G>T p.V34= Synonymous 2/17 - 1
10-73039604-C-G c.106C>G p.P36A Missense 2/17 - 1
10-73039605-C-A c.107C>A p.P36H Missense 2/17 - 1
10-73039611-C-T c.113C>T p.S38F Missense 2/17 - 1
10-73039617-C-A c.119C>A p.P40Q Missense 2/17 - 1
10-73039617-C-T c.119C>T p.P40L Missense 2/17 - 1
10-73039622-GC-AA c.124_125delinsAA p.A42K Missense 2/17 - 1
10-73039622-GCG-TAT c.124_126delinsTAT p.A42Y Missense 2/17 - 1
10-73039623-C-A c.125C>A p.A42E Missense 2/17 - 1
10-73039623-C-T c.125C>T p.A42V Missense 2/17 - 1
10-73039624-G-A c.126G>A p.A42= Synonymous 2/17 - 2
10-73039624-G-C c.126G>C p.A42= Synonymous 2/17 - 1
10-73039624-G-T c.126G>T p.A42= Synonymous 2/17 - 1
10-73039629-C-G c.131C>G p.A44G Missense 2/17 - 2
10-73039629-C-T c.131C>T p.A44V Missense 2/17 - 1
10-73039635-C-T c.137C>T p.P46L Missense 2/17 - 1
10-73039636-G-A c.138G>A p.P46= Synonymous 2/17 - 4
10-73039636-G-C c.138G>C p.P46= Synonymous 2/17 - 1
10-73039636-G-T c.138G>T p.P46= Synonymous 2/17 - 1
10-73039646-T-C c.148T>C p.F50L Missense 2/17 - 1
10-73039648-C-A c.150C>A p.F50L Missense 2/17 - 1
10-73039648-C-G c.150C>G p.F50L Missense 2/17 - 1
10-73039653-A-G c.155A>G p.Q52R Missense 2/17 - 1
10-73039657-GC-G c.161del p.P54Hfs*7 Frameshift 2/17 - 1
10-73039663-G-A c.165G>A p.Q55= Synonymous 2/17 - 1
10-73039664-G-A c.166G>A p.D56N Missense 2/17 - 4
10-73039667-G-A c.169G>A p.A57T Missense 2/17 - 9
10-73039668-C-T c.170C>T p.A57V Missense 2/17 - 2
10-73039669-C-A c.171C>A p.A57= Synonymous 2/17 - 2
10-73039669-C-G c.171C>G p.A57= Synonymous 2/17 - 1
10-73039669-C-T c.171C>T p.A57= Synonymous 2/17 - 1
10-73039670-T-G c.172T>G p.Y58D Missense 2/17 - 3
10-73039671-A-G c.173A>G p.Y58C Missense 2/17 - 2
10-73039673-A-G c.175A>G p.I59V Missense 2/17 - 1
10-73039676-G-A c.178G>A p.V60M Missense 2/17 - 2
10-73039678-G-A c.180G>A p.V60= Synonymous 2/17 - 1
10-73039678-G-C c.180G>C p.V60= Synonymous 2/17 - 1
10-73039678-G-T c.180G>T p.V60= Synonymous 2/17 - 1
10-73039681-G-C c.183G>C p.K61N Missense 2/17 - 1
10-73039681-G-T c.183G>T p.K61N Missense 2/17 - 1
10-73039691-GTG-ATC c.193_195delinsATC p.V65I Missense 2/17 - 1
10-73039694-G-A c.196G>A p.E66K Missense 2/17 - 1
10-73039700-C-T c.202C>T p.R68C Missense 2/17 - 3
10-73039707-G-A c.209G>A p.R70H Missense 2/17 - 1
10-73039709-G-A c.211G>A p.A71T Missense 2/17 - 1
10-73039714-C-T c.216C>T p.F72= Synonymous 2/17 - 2
10-73039716-C-T c.218C>T p.P73L Missense 2/17 - 3
10-73039717-C-T c.219C>T p.P73= Synonymous 2/17 - 1
10-73039718-G-A c.220G>A p.A74T Missense 2/17 - 2
10-73039724-C-A c.226C>A p.Q76K Missense 2/17 - 1
10-73039725-A-G c.227A>G p.Q76R Missense 2/17 - 1
10-73039726-G-C c.228G>C p.Q76H Missense 2/17 - 2
10-73039726-G-T c.228G>T p.Q76H Missense 2/17 - 3
10-73039735-C-A c.237C>A p.F79L Missense 2/17 - 2
10-73039736-A-G c.238A>G p.K80E Missense 2/17 - 2
10-73039740-G-C c.242G>C p.C81S Missense 2/17 - 1
10-73039742-A-G c.244A>G p.N82D Missense 2/17 - 1
10-73039745-G-A c.247G>A p.G83S Missense 2/17 - 1
10-73039751-T-A c.253T>A p.W85R Missense 2/17 - 1
10-73039751-T-C c.253T>C p.W85R Missense 2/17 - 1
10-73039751-TGG-AAC c.253_255delinsAAC p.W85N Missense 2/17 - 2
10-73039758-G-C c.260G>C p.S87T Missense 2/17 - 1
10-73039766-G-A c.268G>A p.D90N Missense 2/17 - 1
10-73039770-A-G c.272A>G p.H91R Missense 2/17 - 1
10-73039771-C-T c.273C>T p.H91= Synonymous 2/17 - 1
10-73039772-G-A c.274G>A p.V92I Missense 2/17 - 2
10-73039778-C-T c.280C>T p.Q94* Nonsense 2/17 - 1
10-73039779-A-G c.281A>G p.Q94R Missense 2/17 - 3
10-73039787-C-A c.289C>A p.L97M Missense 2/17 - 1
10-73039787-CTG-TTT c.289_291delinsTTT p.L97F Missense 2/17 - 1
10-73039790-G-A c.292G>A p.D98N Missense 2/17 - 1
10-73039796-G-T c.298G>T p.A100S Missense 2/17 - 1
10-73039797-C-T c.299C>T p.A100V Missense 2/17 - 1
10-73039800-C-A c.302C>A p.T101N Missense 2/17 - 1
10-73039801-C-A c.303C>A p.T101= Synonymous 2/17 - 1
10-73039801-C-G c.303C>G p.T101= Synonymous 2/17 - 1
10-73039801-C-T c.303C>T p.T101= Synonymous 2/17 - 3
10-73039860-C-T c.304+58C>T - IntronicSNV - 2/16 5
10-73044200-C-T c.305-277C>T - IntronicSNV - 2/16 1
10-73044268-T-A c.305-209T>A - IntronicSNV - 2/16 2
10-73044382-T-A c.305-95T>A - IntronicSNV - 2/16 4
10-73044413-G-C c.305-64G>C - IntronicSNV - 2/16 5
10-73044482-C-T c.310C>T p.R104W Missense 3/17 - 1
10-73044483-G-T c.311G>T p.R104L Missense 3/17 - 1
10-73044487-G-A c.315G>A p.V105= Synonymous 3/17 - 1
10-73044488-C-A c.316C>A p.R106S Missense 3/17 - 1
10-73044488-C-T c.316C>T p.R106C Missense 3/17 - 2
10-73044497-C-G c.325C>G p.Q109E Missense 3/17 - 1
10-73044497-C-T c.325C>T p.Q109* Nonsense 3/17 - 4
10-73044503-G-A c.331G>A p.E111K Missense 3/17 - 2
10-73044503-G-T c.331G>T p.E111* Nonsense 3/17 - 1
10-73044510-C-T c.338C>T p.S113L Missense 3/17 - 2
10-73044511-G-A c.339G>A p.S113= Synonymous 3/17 - 3
10-73044511-G-C c.339G>C p.S113= Synonymous 3/17 - 2
10-73044511-G-T c.339G>T p.S113= Synonymous 3/17 - 2
10-73044513-G-A c.341G>A p.R114Q Missense 3/17 - 1
10-73044518-C-T c.346C>T p.Q116* Nonsense 3/17 - 1
10-73044523-G-A c.351G>A p.V117= Synonymous 3/17 - 3
10-73044523-G-C c.351G>C p.V117= Synonymous 3/17 - 1
10-73044523-G-T c.351G>T p.V117= Synonymous 3/17 - 1
10-73044525-A-T c.353A>T p.E118V Missense 3/17 - 1
10-73044530-C-A c.358C>A p.L120I Missense 3/17 - 6
10-73044532-C-A c.360C>A p.L120= Synonymous 3/17 - 2
10-73044532-C-G c.360C>G p.L120= Synonymous 3/17 - 1
10-73044532-C-T c.360C>T p.L120= Synonymous 3/17 - 1
10-73044544-G-A c.372G>A p.E124= Synonymous 3/17 - 3
10-73044545-G-A c.373G>A p.D125N Missense 3/17 - 4
10-73044545-G-T c.373G>T p.D125Y Missense 3/17 - 2
10-73044553-G-C c.381G>C p.W127C Missense 3/17 - 1
10-73044553-G-T c.381G>T p.W127C Missense 3/17 - 1
10-73044557-C-A c.385C>A p.Q129K Missense 3/17 - 1
10-73044557-C-T c.385C>T p.Q129* Nonsense 3/17 - 1
10-73044558-A-T c.386A>T p.Q129L Missense 3/17 - 1
10-73044559-G-C c.387G>C p.Q129H Missense 3/17 - 1
10-73044559-G-T c.387G>T p.Q129H Missense 3/17 - 1
10-73044562-C-T c.390C>T p.C130= Synonymous 3/17 - 1
10-73044563-G-A c.391G>A p.V131M Missense 3/17 - 1
10-73044567-C-G c.395C>G p.A132G Missense 3/17 - 1
10-73044570-G-A c.398G>A p.W133* Nonsense 3/17 - 1
10-73044571-G-A c.399G>A p.W133* Nonsense 3/17 - 1
10-73044574-C-T c.402C>T p.S134= Synonymous 3/17 - 3
10-73044575-T-G c.403T>G p.S135A Missense 3/17 - 3
10-73044576-C-T c.404C>T p.S135F Missense 3/17 - 5
10-73044578-G-A c.406G>A p.A136T Missense 3/17 - 3
10-73044578-G-T c.406G>T p.A136S Missense 3/17 - 1
10-73044580-G-A c.408G>A p.A136= Synonymous 3/17 - 14
10-73044580-G-C c.408G>C p.A136= Synonymous 3/17 - 11
10-73044584-A-G c.412A>G p.T138A Missense 3/17 - 1
10-73044585-C-T c.413C>T p.T138I Missense 3/17 - 1
10-73044586-C-T c.414C>T p.T138= Synonymous 3/17 - 1
10-73044592-G-A c.420G>A p.K140= Synonymous 3/17 - 2
10-73044596-C-T c.424C>T p.R142C Missense 3/17 - 1
10-73044597-G-T c.425G>T p.R142L Missense 3/17 - 1
10-73044599-C-A c.427C>A p.R143= Synonymous 3/17 - 1
10-73044599-C-T c.427C>T p.R143* Nonsense 3/17 - 2
10-73044601-A-C c.429A>C p.R143= Synonymous 3/17 - 1
10-73044601-A-G c.429A>G p.R143= Synonymous 3/17 - 1
10-73044601-A-T c.429A>T p.R143= Synonymous 3/17 - 1
10-73044604-C-A c.432C>A p.A144= Synonymous 3/17 - 1
10-73044604-C-G c.432C>G p.A144= Synonymous 3/17 - 1
10-73044604-C-T c.432C>T p.A144= Synonymous 3/17 - 1
10-73044608-G-C c.436G>C p.V146L Missense 3/17 - 1
10-73044611-C-G c.439C>G p.R147G Missense 3/17 - 1
10-73044611-C-T c.439C>T p.R147C Missense 3/17 - 3
10-73044614-A-G c.442A>G p.I148V Missense 3/17 - 2
10-73044617-G-A c.445G>A p.A149T Missense 3/17 - 1
10-73044621-G-T c.448+1G>T - IntronicSNV - 3/16 1
10-73044674-G-A c.448+54G>A - IntronicSNV - 3/16 7
10-73044674-G-C c.448+54G>C - IntronicSNV - 3/16 5
10-73044740-G-A c.448+120G>A - IntronicSNV - 3/16 1
10-73044806-T-C c.448+186T>C - IntronicSNV - 3/16 1
10-73044845-TC-T c.448+230del - IntronicDeletion - 3/16 1
10-73044924-A-G c.449-159A>G - IntronicSNV - 3/16 6
10-73044924-A-T c.449-159A>T - IntronicSNV - 3/16 6
10-73044930-C-G c.449-153C>G - IntronicSNV - 3/16 6
10-73044930-C-T c.449-153C>T - IntronicSNV - 3/16 6
10-73044954-A-G c.449-129A>G - IntronicSNV - 3/16 5
10-73045083-A-C c.449A>C p.Y150S Missense 4/17 - 1
10-73045085-CTG-TTT c.451_453delinsTTT p.L151F Missense 4/17 - 1
10-73045088-C-T c.454C>T p.R152C Missense 4/17 - 1
10-73045090-C-A c.456C>A p.R152= Synonymous 4/17 - 1
10-73045090-C-G c.456C>G p.R152= Synonymous 4/17 - 1
10-73045090-C-T c.456C>T p.R152= Synonymous 4/17 - 1
10-73045095-A-T c.461A>T p.N154I Missense 4/17 - 1
10-73045099-C-T c.465C>T p.F155= Synonymous 4/17 - 1
10-73045100-G-A c.466G>A p.D156N Missense 4/17 - 1
10-73045116-GC-AG c.482_483delinsAG p.G161E Missense 4/17 - 1
10-73045121-G-A c.487G>A p.E163K Missense 4/17 - 1
10-73045123-G-A c.489G>A p.E163= Synonymous 4/17 - 1
10-73045127-C-T c.493C>T p.P165S Missense 4/17 - 1
10-73045135-C-A c.501C>A p.D167E Missense 4/17 - 1
10-73045135-C-G c.501C>G p.D167E Missense 4/17 - 1
10-73045137-A-G c.503A>G p.H168R Missense 4/17 - 1
10-73045138-T-A c.504T>A p.H168Q Missense 4/17 - 1
10-73045139-G-T c.505G>T p.E169* Nonsense 4/17 - 1
10-73045140-A-T c.506A>T p.E169V Missense 4/17 - 1
10-73045142-G-C c.508G>C p.V170L Missense 4/17 - 1
10-73045145-C-T c.511C>T p.L171F Missense 4/17 - 1
10-73045148-C-T c.514C>T p.L172= Synonymous 4/17 - 1
10-73045157-CGC-TGG c.523_525delinsTGG p.R175W Missense 4/17 - 1
10-73045158-G-A c.524G>A p.R175H Missense 4/17 - 3
10-73045159-C-G c.525C>G p.R175= Synonymous 4/17 - 1
10-73045160-C-T c.526C>T p.P176S Missense 4/17 - 2
10-73045163-C-T c.529C>T p.P177S Missense 4/17 - 1
10-73045164-C-T c.530C>T p.P177L Missense 4/17 - 4
10-73045165-G-A c.531G>A p.P177= Synonymous 4/17 - 4
10-73045165-G-C c.531G>C p.P177= Synonymous 4/17 - 1
10-73045165-G-T c.531G>T p.P177= Synonymous 4/17 - 1
10-73045166-G-A c.532G>A p.E178K Missense 4/17 - 1
10-73045168-G-C c.534G>C p.E178D Missense 4/17 - 1
10-73045168-G-T c.534G>T p.E178D Missense 4/17 - 1
10-73045167-A-AG c.538dup p.V180Gfs*12 Frameshift 4/17 - 1
10-73045175-C-T c.541C>T p.P181S Missense 4/17 - 2
10-73045177-T-G c.543T>G p.P181= Synonymous 4/17 - 3
10-73045184-G-A c.550G>A p.E184K Missense 4/17 - 2
10-73045284-C-G c.552+98C>G - IntronicSNV - 4/16 3
10-73046099-A-G c.553-347A>G - IntronicSNV - 4/16 1
10-73046099-A-T c.553-347A>T - IntronicSNV - 4/16 1
10-73046421-T-C c.553-25T>C - IntronicSNV - 4/16 2
10-73046446-G-A c.553G>A p.V185M Missense 5/17 - 1
10-73046449-G-A c.556G>A p.E186K Missense 5/17 - 1
10-73046451-A-G c.558A>G p.E186= Synonymous 5/17 - 2
10-73046452-T-A c.559T>A p.W187R Missense 5/17 - 1
10-73046452-T-C c.559T>C p.W187R Missense 5/17 - 1
10-73046453-G-A c.560G>A p.W187* Nonsense 5/17 - 1
10-73046454-G-A c.561G>A p.W187* Nonsense 5/17 - 1
10-73046457-C-T c.564C>T p.L188= Synonymous 5/17 - 2
10-73046460-G-C c.567G>C p.K189N Missense 5/17 - 2
10-73046460-G-T c.567G>T p.K189N Missense 5/17 - 3
10-73046464-G-C c.571G>C p.E191Q Missense 5/17 - 1
10-73046465-A-C c.572A>C p.E191A Missense 5/17 - 1
10-73046465-A-G c.572A>G p.E191G Missense 5/17 - 2
10-73046467-G-A c.574G>A p.D192N Missense 5/17 - 4
10-73046480-C-A c.587C>A p.P196H Missense 5/17 - 1
10-73046488-G-T c.595G>T p.D199Y Missense 5/17 - 1
10-73046491-A-G c.598A>G p.T200A Missense 5/17 - 1
10-73046492-C-T c.599C>T p.T200I Missense 5/17 - 1
10-73046499-C-T c.606C>T p.F202= Synonymous 5/17 - 1
10-73046505-C-A c.612C>A p.L204= Synonymous 5/17 - 2
10-73046505-C-G c.612C>G p.L204= Synonymous 5/17 - 2
10-73046505-C-T c.612C>T p.L204= Synonymous 5/17 - 2
10-73046510-T-C c.617T>C p.I206T Missense 5/17 - 1
10-73046511-C-T c.618C>T p.I206= Synonymous 5/17 - 2
10-73046512-G-A c.619G>A p.D207N Missense 5/17 - 5
10-73046512-G-T c.619G>T p.D207Y Missense 5/17 - 1
10-73046515-C-T c.622C>T p.H208Y Missense 5/17 - 1
10-73046516-A-G c.623A>G p.H208R Missense 5/17 - 1
10-73046521-C-T c.628C>T p.L210F Missense 5/17 - 1
10-73046526-C-T c.633C>T p.I211= Synonymous 5/17 - 2
10-73046528-T-C c.635T>C p.I212T Missense 5/17 - 1
10-73046528-T-G c.635T>G p.I212S Missense 5/17 - 1
10-73046530-C-T c.637C>T p.R213C Missense 5/17 - 8
10-73046531-G-A c.638G>A p.R213H Missense 5/17 - 1
10-73046531-G-C c.638G>C p.R213P Missense 5/17 - 1
10-73046532-C-T c.639C>T p.R213= Synonymous 5/17 - 1
10-73046534-A-G c.641A>G p.Q214R Missense 5/17 - 1
10-73046535-G-T c.642G>T p.Q214H Missense 5/17 - 1
10-73046536-G-T c.643G>T p.A215S Missense 5/17 - 1
10-73046537-C-A c.644C>A p.A215D Missense 5/17 - 2
10-73046539-C-A c.646C>A p.R216S Missense 5/17 - 1
10-73046539-C-T c.646C>T p.R216C Missense 5/17 - 2
10-73046540-G-A c.647G>A p.R216H Missense 5/17 - 4
10-73046540-GC-G c.649del p.L217Cfs*29 Frameshift 5/17 - 1
10-73046546-C-A c.653C>A p.S218* Nonsense 5/17 - 1
10-73046546-C-G c.653C>G p.S218W Missense 5/17 - 3
10-73046546-C-T c.653C>T p.S218L Missense 5/17 - 4
10-73046552-C-T c.659C>T p.T220I Missense 5/17 - 1
10-73046554-G-A c.661G>A p.A221T Missense 5/17 - 1
10-73046558-A-G c.665A>G p.N222S Missense 5/17 - 1
10-73046564-C-T c.671C>T p.T224I Missense 5/17 - 2
10-73046568-C-A c.675C>A p.C225* Nonsense 5/17 - 1
10-73046569-G-A c.676G>A p.V226M Missense 5/17 - 3
10-73046569-G-C c.676G>C p.V226L Missense 5/17 - 1
10-73046569-G-T c.676G>T p.V226L Missense 5/17 - 1
10-73046571-G-A c.678G>A p.V226= Synonymous 5/17 - 3
10-73046576-A-G c.683A>G p.K228R Missense 5/17 - 1
10-73046577-G-A c.684G>A p.K228= Synonymous 5/17 - 1
10-73046577-G-C c.684G>C p.K228N Missense 5/17 - 5
10-73046577-G-T c.684G>T p.K228N Missense 5/17 - 3
10-73046578-A-G c.685A>G p.N229D Missense 5/17 - 1
10-73046583-C-T c.690C>T p.I230= Synonymous 5/17 - 3
10-73046584-G-A c.691G>A p.V231M Missense 5/17 - 1
10-73046593-C-A c.700C>A p.R234S Missense 5/17 - 1
10-73046593-C-T c.700C>T p.R234C Missense 5/17 - 2
10-73046594-G-A c.701G>A p.R234H Missense 5/17 - 1
10-73046595-C-A c.702C>A p.R234= Synonymous 5/17 - 2
10-73046595-C-G c.702C>G p.R234= Synonymous 5/17 - 2
10-73046595-C-T c.702C>T p.R234= Synonymous 5/17 - 2
10-73046597-G-A c.704G>A p.R235Q Missense 5/17 - 2
10-73046599-A-G c.706A>G p.S236G Missense 5/17 - 1
10-73046610-C-T c.717C>T p.A239= Synonymous 5/17 - 1
10-73046611-A-G c.718A>G p.T240A Missense 5/17 - 1
10-73046612-CC-GG c.719_720inv p.T240R Missense 5/17 - 1
10-73046612-CC-TG c.719_720delinsTG p.T240M Missense 5/17 - 1
10-73046613-C-A c.720C>A p.T240= Synonymous 5/17 - 1
10-73046613-C-G c.720C>G p.T240= Synonymous 5/17 - 2
10-73046613-C-T c.720C>T p.T240= Synonymous 5/17 - 1
10-73046614-G-A c.721G>A p.V241I Missense 5/17 - 3
10-73046617-A-G c.724A>G p.I242V Missense 5/17 - 16
10-73046618-T-G c.725T>G p.I242S Missense 5/17 - 1
10-73046619-C-A c.726C>A p.I242= Synonymous 5/17 - 1
10-73046619-C-T c.726C>T p.I242= Synonymous 5/17 - 1
10-73046620-G-A c.727G>A p.V243I Missense 5/17 - 1
10-73046620-G-C c.727G>C p.V243L Missense 5/17 - 1
10-73046622-C-A c.729C>A p.V243= Synonymous 5/17 - 1
10-73046622-C-G c.729C>G p.V243= Synonymous 5/17 - 1
10-73046622-C-T c.729C>T p.V243= Synonymous 5/17 - 1
10-73046623-T-C c.730T>C p.Y244H Missense 5/17 - 2
10-73046625-C-T c.732C>T p.Y244= Synonymous 5/17 - 10
10-73046626-G-A c.733G>A p.V245M Missense 5/17 - 2
10-73046627-G-T c.733+1G>T - IntronicSNV - 5/16 2
10-73046631-G-A c.733+5G>A - IntronicSNV - 5/16 1
10-73047087-C-A c.734-268C>A - IntronicSNV - 5/16 1
10-73047087-C-G c.734-268C>G - IntronicSNV - 5/16 1
10-73047125-G-A c.734-230G>A - IntronicSNV - 5/16 1
10-73047125-G-T c.734-230G>T - IntronicSNV - 5/16 1
10-73047151-A-T c.734-204A>T - IntronicSNV - 5/16 1
10-73047182-G-A c.734-173G>A - IntronicSNV - 5/16 2
10-73047182-G-C c.734-173G>C - IntronicSNV - 5/16 2
10-73047276-G-A c.734-79G>A - IntronicSNV - 5/16 1
10-73047362-C-A c.741C>A p.G247= Synonymous 6/17 - 1
10-73047362-C-G c.741C>G p.G247= Synonymous 6/17 - 1
10-73047362-C-T c.741C>T p.G247= Synonymous 6/17 - 3
10-73047363-G-A c.742G>A p.G248S Missense 6/17 - 1
10-73047367-G-A c.746G>A p.W249* Nonsense 6/17 - 1
10-73047368-G-A c.747G>A p.W249* Nonsense 6/17 - 1
10-73047371-C-T c.750C>T p.S250= Synonymous 6/17 - 2
10-73047379-C-T c.758C>T p.A253V Missense 6/17 - 3
10-73047380-A-C c.759A>C p.A253= Synonymous 6/17 - 1
10-73047380-A-G c.759A>G p.A253= Synonymous 6/17 - 1
10-73047380-A-T c.759A>T p.A253= Synonymous 6/17 - 1
10-73047385-G-A c.764G>A p.W255* Nonsense 6/17 - 5
10-73047389-A-C c.768A>C p.S256= Synonymous 6/17 - 1
10-73047397-C-A c.776C>A p.S259Y Missense 6/17 - 2
10-73047398-C-T c.777C>T p.S259= Synonymous 6/17 - 1
10-73047402-CGC-AAG c.781_783delinsAAG p.R261K Missense 6/17 - 1
10-73047403-G-T c.782G>T p.R261L Missense 6/17 - 5
10-73047404-C-A c.783C>A p.R261= Synonymous 6/17 - 1
10-73047404-C-G c.783C>G p.R261= Synonymous 6/17 - 1
10-73047404-C-T c.783C>T p.R261= Synonymous 6/17 - 1
10-73047408-G-A c.787G>A p.G263S Missense 6/17 - 1
10-73047411-C-T c.790C>T p.R264* Nonsense 6/17 - 1
10-73047419-G-C c.798G>C p.W266C Missense 6/17 - 1
10-73047419-G-T c.798G>T p.W266C Missense 6/17 - 1
10-73047426-C-G c.805C>G p.R269G Missense 6/17 - 1
10-73047426-C-T c.805C>T p.R269C Missense 6/17 - 4
10-73047427-GC-AA c.806_807delinsAA p.R269Q Missense 6/17 - 2
10-73047428-C-A c.807C>A p.R269= Synonymous 6/17 - 2
10-73047428-C-G c.807C>G p.R269= Synonymous 6/17 - 2
10-73047428-C-T c.807C>T p.R269= Synonymous 6/17 - 2
10-73047432-C-T c.811C>T p.R271W Missense 6/17 - 7
10-73047433-G-A c.812G>A p.R271Q Missense 6/17 - 3
10-73047435-A-G c.814A>G p.T272A Missense 6/17 - 1
10-73047438-T-G c.817T>G p.C273G Missense 6/17 - 1
10-73047439-G-A c.818G>A p.C273Y Missense 6/17 - 1
10-73047448-C-A c.827C>A p.P276H Missense 6/17 - 1
10-73047448-C-G c.827C>G p.P276R Missense 6/17 - 1
10-73047448-C-T c.827C>T p.P276L Missense 6/17 - 2
10-73047450-G-A c.829G>A p.A277T Missense 6/17 - 3
10-73047456-CT-AC c.835_836delinsAC p.L279T Missense 6/17 - 1
10-73047461-C-T c.840C>T p.N280= Synonymous 6/17 - 1
10-73047462-G-T c.841G>T p.G281* Nonsense 6/17 - 1
10-73047463-G-A c.842G>A p.G281E Missense 6/17 - 2
10-73047463-G-C c.842G>C p.G281A Missense 6/17 - 1
10-73047465-G-A c.844G>A p.G282R Missense 6/17 - 1
10-73047465-G-C c.844G>C p.G282R Missense 6/17 - 1
10-73047466-G-A c.845G>A p.G282E Missense 6/17 - 1
10-73047469-C-A c.848C>A p.A283D Missense 6/17 - 1
10-73047476-C-T c.855C>T p.C285= Synonymous 6/17 - 2
10-73047477-G-A c.856G>A p.E286K Missense 6/17 - 3
10-73047478-A-G c.857A>G p.E286G Missense 6/17 - 1
10-73047480-G-A c.859G>A p.G287S Missense 6/17 - 1
10-73047481-G-A c.860G>A p.G287D Missense 6/17 - 6
10-73047481-G-T c.860G>T p.G287V Missense 6/17 - 1
10-73047482-C-T c.861C>T p.G287= Synonymous 6/17 - 1
10-73047483-C-T c.862C>T p.Q288* Nonsense 6/17 - 2
10-73047484-CA-C c.863del p.Q288Rfs*73 Frameshift 6/17 - 1
10-73047485-G-A c.864G>A p.Q288= Synonymous 6/17 - 1
10-73047486-G-T c.865G>T p.A289S Missense 6/17 - 1
10-73047487-C-T c.866C>T p.A289V Missense 6/17 - 1
10-73047492-C-T c.871C>T p.Q291* Nonsense 6/17 - 3
10-73047494-G-A c.873G>A p.Q291= Synonymous 6/17 - 2
10-73047497-G-C c.876G>C p.K292N Missense 6/17 - 1
10-73047497-G-T c.876G>T p.K292N Missense 6/17 - 1
10-73047499-C-T c.878C>T p.T293I Missense 6/17 - 1
10-73047500-C-T c.879C>T p.T293= Synonymous 6/17 - 2
10-73047501-G-A c.880G>A p.A294T Missense 6/17 - 1
10-73047503-C-A c.882C>A p.A294= Synonymous 6/17 - 1
10-73047503-C-G c.882C>G p.A294= Synonymous 6/17 - 1
10-73047503-C-T c.882C>T p.A294= Synonymous 6/17 - 1
10-73047508-C-T c.887C>T p.T296I Missense 6/17 - 1
10-73047519-C-G c.898C>G p.P300A Missense 6/17 - 1
10-73047520-C-T c.899C>T p.P300L Missense 6/17 - 1
10-73047555-C-T c.901+33C>T - IntronicSNV - 6/16 8
10-73047593-G-A c.901+71G>A - IntronicSNV - 6/16 6
10-73047690-C-T c.901+168C>T - IntronicSNV - 6/16 5
10-73047897-A-G c.901+375A>G - IntronicSNV - 6/16 2
10-73048326-C-A c.903C>A p.V301= Synonymous 7/17 - 1
10-73048326-C-G c.903C>G p.V301= Synonymous 7/17 - 1
10-73048326-C-T c.903C>T p.V301= Synonymous 7/17 - 3
10-73048335-G-A c.912G>A p.A304= Synonymous 7/17 - 5
10-73048335-G-C c.912G>C p.A304= Synonymous 7/17 - 3
10-73048335-G-T c.912G>T p.A304= Synonymous 7/17 - 3
10-73048339-A-G c.916A>G p.T306A Missense 7/17 - 1
10-73048340-C-T c.917C>T p.T306M Missense 7/17 - 4
10-73048341-G-A c.918G>A p.T306= Synonymous 7/17 - 1
10-73048342-G-A c.919G>A p.E307K Missense 7/17 - 3
10-73048342-G-T c.919G>T p.E307* Nonsense 7/17 - 1
10-73048345-T-A c.922T>A p.W308R Missense 7/17 - 2
10-73048345-T-C c.922T>C p.W308R Missense 7/17 - 2
10-73048347-G-A c.924G>A p.W308* Nonsense 7/17 - 4
10-73048351-A-C c.928A>C p.K310Q Missense 7/17 - 2
10-73048355-G-A c.932G>A p.W311* Nonsense 7/17 - 2
10-73048358-C-T c.935C>T p.S312L Missense 7/17 - 1
10-73048361-C-T c.938C>T p.A313V Missense 7/17 - 1
10-73048371-T-A c.948T>A p.T316= Synonymous 7/17 - 1
10-73048371-T-C c.948T>C p.T316= Synonymous 7/17 - 1
10-73048371-T-G c.948T>G p.T316= Synonymous 7/17 - 1
10-73048372-G-A c.949G>A p.E317K Missense 7/17 - 1
10-73048387-C-T c.964C>T p.R322C Missense 7/17 - 2
10-73048388-G-A c.965G>A p.R322H Missense 7/17 - 8
10-73048393-CGC-TGG c.970_972delinsTGG p.R324W Missense 7/17 - 1
10-73048393-C-T c.970C>T p.R324C Missense 7/17 - 2
10-73048396-G-A c.973G>A p.E325K Missense 7/17 - 3
10-73048396-G-C c.973G>C p.E325Q Missense 7/17 - 1
10-73048406-C-T c.983C>T p.A328V Missense 7/17 - 1
10-73048407-G-A c.984G>A p.A328= Synonymous 7/17 - 1
10-73048407-G-C c.984G>C p.A328= Synonymous 7/17 - 1
10-73048407-G-T c.984G>T p.A328= Synonymous 7/17 - 1
10-73048414-C-A c.991C>A p.P331T Missense 7/17 - 1
10-73048416-C-A c.993C>A p.P331= Synonymous 7/17 - 2
10-73048416-C-G c.993C>G p.P331= Synonymous 7/17 - 2
10-73048416-C-T c.993C>T p.P331= Synonymous 7/17 - 2
10-73048419-G-C c.996G>C p.Q332H Missense 7/17 - 1
10-73048421-A-C c.998A>C p.N333T Missense 7/17 - 1
10-73048423-G-A c.1000G>A p.G334R Missense 7/17 - 2
10-73048423-GG-AA c.1000_1001delinsAA p.G334K Missense 7/17 - 3
10-73048424-G-A c.1001G>A p.G334E Missense 7/17 - 6
10-73048426-G-A c.1003G>A p.G335S Missense 7/17 - 1
10-73048430-G-A c.1007G>A p.R336H Missense 7/17 - 1
10-73048430-GT-AA c.1007_1008delinsAA p.R336Q Missense 7/17 - 1
10-73048441-G-A c.1018G>A p.G340R Missense 7/17 - 1
10-73048441-G-C c.1018G>C p.G340R Missense 7/17 - 1
10-73048442-G-C c.1019G>C p.G340A Missense 7/17 - 1
10-73048445-C-T c.1022C>T p.T341M Missense 7/17 - 4
10-73048446-G-T c.1023G>T p.T341= Synonymous 7/17 - 2
10-73048448-T-C c.1025T>C p.L342P Missense 7/17 - 1
10-73048450-C-A c.1027C>A p.L343I Missense 7/17 - 1
10-73048450-C-CAAA c.1027_1028insAAA p.L343delinsQI MultiAAMissense 7/17 - 1
10-73048450-CTC-ATG c.1027_1029delinsATG p.L343M Missense 7/17 - 1
10-73048453-G-A c.1030G>A p.D344N Missense 7/17 - 4
10-73048456-TC-CT c.1033_1034delinsCT p.S345L Missense 7/17 - 1
10-73048470-A-C c.1047A>C p.T349= Synonymous 7/17 - 2
10-73048470-A-G c.1047A>G p.T349= Synonymous 7/17 - 2
10-73048470-A-T c.1047A>T p.T349= Synonymous 7/17 - 1
10-73048632-T-C c.1067-83T>C - IntronicSNV - 7/16 3
10-73048715-A-G c.1067A>G p.N356S Missense 8/17 - 2
10-73048716-T-C c.1068T>C p.N356= Synonymous 8/17 - 1
10-73048719-G-C c.1071G>C p.K357N Missense 8/17 - 1
10-73048719-G-T c.1071G>T p.K357N Missense 8/17 - 1
10-73048726-C-A c.1078C>A p.L360I Missense 8/17 - 1
10-73048728-A-G c.1080A>G p.L360= Synonymous 8/17 - 1
10-73048729-A-G c.1081A>G p.S361G Missense 8/17 - 1
10-73048730-G-A c.1082G>A p.S361N Missense 8/17 - 2
10-73048729-A-C c.1081A>C p.S361R Missense 8/17 - 1
10-73048731-C-A c.1083C>A p.S361R Missense 8/17 - 1
10-73048731-C-G c.1083C>G p.S361R Missense 8/17 - 1
10-73048731-C-T c.1083C>T p.S361= Synonymous 8/17 - 1
10-73048732-G-A c.1084G>A p.D362N Missense 8/17 - 1
10-73048736-C-T c.1088C>T p.P363L Missense 8/17 - 1
10-73048737-C-A c.1089C>A p.P363= Synonymous 8/17 - 1
10-73048737-C-G c.1089C>G p.P363= Synonymous 8/17 - 1
10-73048737-C-T c.1089C>T p.P363= Synonymous 8/17 - 1
10-73048743-C-T c.1095C>T p.S365= Synonymous 8/17 - 1
10-73048814-C-T c.1099+67C>T - IntronicSNV - 8/16 1
10-73048954-T-C c.1099+207T>C - IntronicSNV - 8/16 2
10-73050637-C-CTG c.1100-34_1100-33dup - IntronicInsertion - 8/16 4
10-73048747-C-T c.1099C>T p.L367= Synonymous 8/17 - 1
10-73050673-G-A c.1101G>A p.L367= Synonymous 9/17 - 1
10-73050673-G-C c.1101G>C p.L367= Synonymous 9/17 - 1
10-73050673-G-T c.1101G>T p.L367= Synonymous 9/17 - 1
10-73050674-C-T c.1102C>T p.L368= Synonymous 9/17 - 2
10-73050676-G-A c.1104G>A p.L368= Synonymous 9/17 - 1
10-73050676-G-C c.1104G>C p.L368= Synonymous 9/17 - 1
10-73050676-G-T c.1104G>T p.L368= Synonymous 9/17 - 1
10-73050677-G-A c.1105G>A p.E369K Missense 9/17 - 1
10-73050680-G-A c.1108G>A p.A370T Missense 9/17 - 1
10-73050685-A-G c.1113A>G p.S371= Synonymous 9/17 - 1
10-73050686-G-T c.1114G>T p.G372W Missense 9/17 - 4
10-73050687-G-A c.1115G>A p.G372E Missense 9/17 - 4
10-73050688-G-A c.1116G>A p.G372= Synonymous 9/17 - 1
10-73050693-C-T c.1121C>T p.A374V Missense 9/17 - 4
10-73050694-G-A c.1122G>A p.A374= Synonymous 9/17 - 2
10-73050694-G-C c.1122G>C p.A374= Synonymous 9/17 - 1
10-73050694-G-T c.1122G>T p.A374= Synonymous 9/17 - 1
10-73050696-C-A c.1124C>A p.A375E Missense 9/17 - 1
10-73050696-C-G c.1124C>G p.A375G Missense 9/17 - 1
10-73050696-C-T c.1124C>T p.A375V Missense 9/17 - 4
10-73050702-A-G c.1130A>G p.Y377C Missense 9/17 - 2
10-73050704-G-A c.1132G>A p.A378T Missense 9/17 - 1
10-73050706-G-T c.1134G>T p.A378= Synonymous 9/17 - 1
10-73050707-G-T c.1135G>T p.G379W Missense 9/17 - 1
10-73050708-GG-AC c.1136_1137delinsAC p.G379D Missense 9/17 - 1
10-73050708-G-T c.1136G>T p.G379V Missense 9/17 - 1
10-73050709-G-A c.1137G>A p.G379= Synonymous 9/17 - 1
10-73050712-C-T c.1140C>T p.L380= Synonymous 9/17 - 2
10-73050713-G-A c.1141G>A p.V381M Missense 9/17 - 3
10-73050716-G-A c.1144G>A p.V382M Missense 9/17 - 2
10-73050720-C-T c.1148C>T p.A383V Missense 9/17 - 2
10-73050721-C-A c.1149C>A p.A383= Synonymous 9/17 - 1
10-73050721-C-G c.1149C>G p.A383= Synonymous 9/17 - 1
10-73050721-C-T c.1149C>T p.A383= Synonymous 9/17 - 1
10-73050726-T-G c.1154T>G p.F385C Missense 9/17 - 1
10-73050727-C-T c.1155C>T p.F385= Synonymous 9/17 - 1
10-73050733-C-T c.1161C>T p.V387= Synonymous 9/17 - 1
10-73050734-G-A c.1162G>A p.V388M Missense 9/17 - 2
10-73050736-G-A c.1164G>A p.V388= Synonymous 9/17 - 1
10-73050736-G-C c.1164G>C p.V388= Synonymous 9/17 - 1
10-73050736-G-T c.1164G>T p.V388= Synonymous 9/17 - 1
10-73050738-C-T c.1166C>T p.A389V Missense 9/17 - 1
10-73050748-G-A c.1176G>A p.M392I Missense 9/17 - 1
10-73050750-C-T c.1178C>T p.A393V Missense 9/17 - 3
10-73050753-T-G c.1181T>G p.V394G Missense 9/17 - 2
10-73050755-G-A c.1183G>A p.G395R Missense 9/17 - 1
10-73050755-G-C c.1183G>C p.G395R Missense 9/17 - 1
10-73050757-G-A c.1185G>A p.G395= Synonymous 9/17 - 2
10-73050759-T-A c.1187T>A p.V396E Missense 9/17 - 1
10-73050759-T-G c.1187T>G p.V396G Missense 9/17 - 2
10-73050765-T-A c.1193T>A p.V398E Missense 9/17 - 1
10-73050765-T-C c.1193T>C p.V398A Missense 9/17 - 1
10-73050769-C-T c.1197C>T p.Y399= Synonymous 9/17 - 1
10-73050770-CG-GC c.1198_1199delinsGC p.R400A Missense 9/17 - 1
10-73050770-C-T c.1198C>T p.R400C Missense 9/17 - 3
10-73050771-G-A c.1199G>A p.R400H Missense 9/17 - 3
10-73050773-C-T c.1201C>T p.R401C Missense 9/17 - 1
10-73050774-G-A c.1202G>A p.R401H Missense 9/17 - 1
10-73050779-T-C c.1207T>C p.C403R Missense 9/17 - 1
10-73050781-C-G c.1209C>G p.C403W Missense 9/17 - 1
10-73050782-CG-GC c.1210_1211delinsGC p.R404A Missense 9/17 - 1
10-73050782-C-T c.1210C>T p.R404C Missense 9/17 - 1
10-73050792-A-G c.1220A>G p.D407G Missense 9/17 - 1
10-73050797-G-A c.1225G>A p.D409N Missense 9/17 - 2
10-73050797-G-T c.1225G>T p.D409Y Missense 9/17 - 1
10-73050802-C-G c.1230C>G p.I410M Missense 9/17 - 1
10-73050806-G-A c.1234G>A p.D412N Missense 9/17 - 5
10-73050818-G-C c.1246G>C p.A416P Missense 9/17 - 1
10-73050819-C-T c.1247C>T p.A416V Missense 9/17 - 2
10-73050821-C-A c.1249C>A p.L417M Missense 9/17 - 1
10-73050821-C-T c.1249C>T p.L417= Synonymous 9/17 - 2
10-73050823-G-A c.1251G>A p.L417= Synonymous 9/17 - 1
10-73050823-G-C c.1251G>C p.L417= Synonymous 9/17 - 1
10-73050823-G-T c.1251G>T p.L417= Synonymous 9/17 - 1
10-73050830-G-A c.1258G>A p.G420S Missense 9/17 - 4
10-73050830-G-C c.1258G>C p.G420R Missense 9/17 - 2
10-73050831-G-A c.1259G>A p.G420D Missense 9/17 - 1
10-73050831-G-T c.1259G>T p.G420V Missense 9/17 - 1
10-73050839-C-T c.1267C>T p.P423S Missense 9/17 - 7
10-73050841-C-A c.1269C>A p.P423= Synonymous 9/17 - 3
10-73050841-C-G c.1269C>G p.P423= Synonymous 9/17 - 2
10-73050841-C-T c.1269C>T p.P423= Synonymous 9/17 - 2
10-73050842-G-A c.1270G>A p.V424I Missense 9/17 - 1
10-73050846-A-G c.1274A>G p.N425S Missense 9/17 - 2
10-73050851-A-C c.1279A>C p.K427Q Missense 9/17 - 3
10-73050853-G-A c.1281G>A p.K427= Synonymous 9/17 - 4
10-73050853-G-C c.1281G>C p.K427N Missense 9/17 - 1
10-73050853-G-T c.1281G>T p.K427N Missense 9/17 - 1
10-73050854-AC-GA c.1282_1283delinsGA p.T428E Missense 9/17 - 1
10-73050854-A-G c.1282A>G p.T428A Missense 9/17 - 1
10-73050856-G-C c.1284G>C p.T428= Synonymous 9/17 - 1
10-73050857-G-A c.1285G>A p.A429T Missense 9/17 - 5
10-73050858-C-T c.1286C>T p.A429V Missense 9/17 - 4
10-73050859-A-C c.1287A>C p.A429= Synonymous 9/17 - 1
10-73050859-A-G c.1287A>G p.A429= Synonymous 9/17 - 1
10-73050859-A-T c.1287A>T p.A429= Synonymous 9/17 - 1
10-73050860-AG-CA c.1288_1289delinsCA p.R430Q Missense 9/17 - 1
10-73050860-AG-TA c.1288_1289delinsTA p.R430* Nonsense 9/17 - 1
10-73050862-G-A c.1290G>A p.R430= Synonymous 9/17 - 1
10-73050863-C-T c.1291C>T p.P431S Missense 9/17 - 3
10-73050864-C-A c.1292C>A p.P431H Missense 9/17 - 1
10-73050864-C-T c.1292C>T p.P431L Missense 9/17 - 2
10-73050983-C-T c.1294+117C>T - IntronicSNV - 9/16 5
10-73051038-G-C c.1295-151G>C - IntronicSNV - 9/16 6
10-73051193-C-T c.1299C>T p.N433= Synonymous 10/17 - 2
10-73051196-G-A c.1302G>A p.P434= Synonymous 10/17 - 1
10-73051201-T-C c.1307T>C p.L436P Missense 10/17 - 1
10-73051202-C-A c.1308C>A p.L436= Synonymous 10/17 - 1
10-73051202-C-G c.1308C>G p.L436= Synonymous 10/17 - 1
10-73051202-C-T c.1308C>T p.L436= Synonymous 10/17 - 1
10-73051207-A-G c.1313A>G p.H438R Missense 10/17 - 1
10-73051208-C-A c.1314C>A p.H438Q Missense 10/17 - 1
10-73051208-C-G c.1314C>G p.H438Q Missense 10/17 - 1
10-73051208-C-T c.1314C>T p.H438= Synonymous 10/17 - 1
10-73051213-C-T c.1319C>T p.S440F Missense 10/17 - 2
10-73051215-G-A c.1321G>A p.V441M Missense 10/17 - 1
10-73051218-C-T c.1324C>T p.P442S Missense 10/17 - 2
10-73051224-G-A c.1330G>A p.D444N Missense 10/17 - 1
10-73051224-G-T c.1330G>T p.D444Y Missense 10/17 - 1
10-73051226-C-A c.1332C>A p.D444E Missense 10/17 - 1
10-73051226-C-G c.1332C>G p.D444E Missense 10/17 - 1
10-73051231-C-G c.1337C>G p.T446R Missense 10/17 - 1
10-73051234-C-A c.1340C>A p.A447D Missense 10/17 - 1
10-73051234-C-T c.1340C>T p.A447V Missense 10/17 - 1
10-73051239-G-A c.1345G>A p.A449T Missense 10/17 - 5
10-73051241-C-T c.1347C>T p.A449= Synonymous 10/17 - 1
10-73051243-G-A c.1349G>A p.G450D Missense 10/17 - 2
10-73051243-G-T c.1349G>T p.G450V Missense 10/17 - 1
10-73051244-C-A c.1350C>A p.G450= Synonymous 10/17 - 1
10-73051244-C-G c.1350C>G p.G450= Synonymous 10/17 - 1
10-73051244-C-T c.1350C>T p.G450= Synonymous 10/17 - 1
10-73051251-C-T c.1357C>T p.R453C Missense 10/17 - 1
10-73051252-G-A c.1358G>A p.R453H Missense 10/17 - 1
10-73051254-G-A c.1360G>A p.G454R Missense 10/17 - 2
10-73051254-G-C c.1360G>C p.G454R Missense 10/17 - 2
10-73051255-G-A c.1361G>A p.G454E Missense 10/17 - 1
10-73051260-G-A c.1366G>A p.V456M Missense 10/17 - 1
10-73051260-G-T c.1366G>T p.V456L Missense 10/17 - 1
10-73051267-C-T c.1373C>T p.A458V Missense 10/17 - 1
10-73051273-A-G c.1379A>G p.Q460R Missense 10/17 - 1
10-73051284-G-A c.1390G>A p.D464N Missense 10/17 - 1
10-73051286-C-T c.1392C>T p.D464= Synonymous 10/17 - 1
10-73051291-T-A c.1397T>A p.I466N Missense 10/17 - 1
10-73051292-C-A c.1398C>A p.I466= Synonymous 10/17 - 1
10-73051292-C-T c.1398C>T p.I466= Synonymous 10/17 - 1
10-73051294-C-T c.1400C>T p.P467L Missense 10/17 - 1
10-73051295-C-A c.1401C>A p.P467= Synonymous 10/17 - 1
10-73051299-A-C c.1405A>C p.T469P Missense 10/17 - 1
10-73051300-C-T c.1406C>T p.T469I Missense 10/17 - 1
10-73051306-C-G c.1412C>G p.S471C Missense 10/17 - 3
10-73051306-C-T c.1412C>T p.S471F Missense 10/17 - 2
10-73051308-C-T c.1414C>T p.P472S Missense 10/17 - 4
10-73051309-C-T c.1415C>T p.P472L Missense 10/17 - 1
10-73051314-C-T c.1420C>T p.L474= Synonymous 10/17 - 1
10-73051316-G-A c.1422G>A p.L474= Synonymous 10/17 - 1
10-73051316-G-C c.1422G>C p.L474= Synonymous 10/17 - 1
10-73051316-G-T c.1422G>T p.L474= Synonymous 10/17 - 1
10-73051319-C-T c.1425C>T p.D475= Synonymous 10/17 - 1
10-73051320-C-T c.1426C>T p.P476S Missense 10/17 - 1
10-73051326-C-T c.1432C>T p.P478S Missense 10/17 - 4
10-73051327-C-A c.1433C>A p.P478H Missense 10/17 - 1
10-73051327-C-T c.1433C>T p.P478L Missense 10/17 - 2
10-73051330-G-A c.1436G>A p.S479N Missense 10/17 - 1
10-73051338-G-A c.1444G>A p.V482I Missense 10/17 - 1
10-73051341-A-T c.1447A>T p.K483* Nonsense 10/17 - 1
10-73051343-G-T c.1449G>T p.K483N Missense 10/17 - 1
10-73051358-GC-G c.1464del p.S488Rfs*114 Frameshift 10/17 - 1
10-73051360-C-A c.1466C>A p.T489N Missense 10/17 - 1
10-73051363-C-T c.1469C>T p.T490M Missense 10/17 - 4
10-73051364-G-A c.1470G>A p.T490= Synonymous 10/17 - 2
10-73051373-G-C c.1479G>C p.G493= Synonymous 10/17 - 1
10-73051378-G-C c.1484G>C p.G495A Missense 10/17 - 1
10-73051384-C-T c.1490C>T p.A497V Missense 10/17 - 1
10-73051386-G-C c.1492G>C p.D498H Missense 10/17 - 1
10-73051388-T-C c.1494T>C p.D498= Synonymous 10/17 - 12
10-73051389-G-A c.1495G>A p.G499R Missense 10/17 - 2
10-73051389-G-C c.1495G>C p.G499R Missense 10/17 - 2
10-73051390-G-A c.1496G>A p.G499E Missense 10/17 - 4
10-73051393-C-T c.1499C>T p.A500V Missense 10/17 - 1
10-73051397-C-T c.1503C>T p.D501= Synonymous 10/17 - 2
10-73051398-C-A c.1504C>A p.L502M Missense 10/17 - 1
10-73051401-C-T c.1507C>T p.L503= Synonymous 10/17 - 3
10-73051403-G-A c.1509G>A p.L503= Synonymous 10/17 - 2
10-73051403-G-C c.1509G>C p.L503= Synonymous 10/17 - 2
10-73051403-G-T c.1509G>T p.L503= Synonymous 10/17 - 2
10-73051404-GGG-TGT c.1510_1512delinsTGT p.G504C Missense 10/17 - 1
10-73051404-G-T c.1510G>T p.G504W Missense 10/17 - 4
10-73051407-G-A c.1513G>A p.V505I Missense 10/17 - 2
10-73051413-C-T c.1519C>T p.P507S Missense 10/17 - 2
10-73051416-C-T c.1522C>T p.P508S Missense 10/17 - 1
10-73051419-G-A c.1525G>A p.G509S Missense 10/17 - 1
10-73051420-G-A c.1526G>A p.G509D Missense 10/17 - 1
10-73051427-C-A c.1533C>A p.Y511* Nonsense 10/17 - 1
10-73051427-C-G c.1533C>G p.Y511* Nonsense 10/17 - 1
10-73051428-C-T c.1534C>T p.P512S Missense 10/17 - 1
10-73051434-G-A c.1540G>A p.D514N Missense 10/17 - 6
10-73051439-C-T c.1545C>T p.F515= Synonymous 10/17 - 9
10-73051440-G-A c.1546G>A p.A516T Missense 10/17 - 9
10-73051440-G-T c.1546G>T p.A516S Missense 10/17 - 2
10-73051442-C-A c.1548C>A p.A516= Synonymous 10/17 - 1
10-73051442-C-G c.1548C>G p.A516= Synonymous 10/17 - 1
10-73051442-C-T c.1548C>T p.A516= Synonymous 10/17 - 1
10-73051443-C-A c.1549C>A p.R517= Synonymous 10/17 - 1
10-73051443-C-T c.1549C>T p.R517W Missense 10/17 - 6
10-73051445-G-A c.1551G>A p.R517= Synonymous 10/17 - 2
10-73051445-G-C c.1551G>C p.R517= Synonymous 10/17 - 1
10-73051445-G-T c.1551G>T p.R517= Synonymous 10/17 - 1
10-73051444-G-A c.1550G>A p.R517Q Missense 10/17 - 1
10-73051446-G-C c.1552G>C p.D518H Missense 10/17 - 1
10-73051448-C-G c.1554C>G p.D518E Missense 10/17 - 1
10-73051452-C-A c.1558C>A p.H520N Missense 10/17 - 4
10-73051457-C-T c.1563C>T p.F521= Synonymous 10/17 - 5
10-73051465-T-A c.1571T>A p.L524Q Missense 10/17 - 1
10-73051464-C-T c.1570C>T p.L524= Synonymous 10/17 - 1
10-73051466-G-A c.1572G>A p.L524= Synonymous 10/17 - 3
10-73051466-G-C c.1572G>C p.L524= Synonymous 10/17 - 1
10-73051466-G-T c.1572G>T p.L524= Synonymous 10/17 - 1
10-73051467-CGC-GAG c.1573_1575delinsGAG p.R525E Missense 10/17 - 1
10-73051467-C-T c.1573C>T p.R525C Missense 10/17 - 3
10-73051468-G-A c.1574G>A p.R525H Missense 10/17 - 2
10-73051468-G-T c.1574G>T p.R525L Missense 10/17 - 1
10-73051472-C-T c.1578C>T p.S526= Synonymous 10/17 - 2
10-73051473-G-A c.1579G>A p.A527T Missense 10/17 - 1
10-73051473-G-T c.1579G>T p.A527S Missense 10/17 - 2
10-73051476-A-C c.1582A>C p.S528R Missense 10/17 - 1
10-73051478-C-A c.1584C>A p.S528R Missense 10/17 - 1
10-73051478-C-G c.1584C>G p.S528R Missense 10/17 - 1
10-73051478-C-T c.1584C>T p.S528= Synonymous 10/17 - 1
10-73051481-C-A c.1587C>A p.L529= Synonymous 10/17 - 1
10-73051481-C-G c.1587C>G p.L529= Synonymous 10/17 - 1
10-73051481-C-T c.1587C>T p.L529= Synonymous 10/17 - 1
10-73051482-G-A c.1588G>A p.G530S Missense 10/17 - 5
10-73051487-C-T c.1593C>T p.S531= Synonymous 10/17 - 1
10-73051488-C-T c.1594C>T p.Q532* Nonsense 10/17 - 6
10-73051491-C-T c.1597C>T p.Q533* Nonsense 10/17 - 1
10-73051493-G-C c.1599G>C p.Q533H Missense 10/17 - 1
10-73051493-G-T c.1599G>T p.Q533H Missense 10/17 - 1
10-73051496-C-A c.1602C>A p.L534= Synonymous 10/17 - 1
10-73051496-C-G c.1602C>G p.L534= Synonymous 10/17 - 1
10-73051496-C-T c.1602C>T p.L534= Synonymous 10/17 - 1
10-73051501-G-T c.1607G>T p.G536V Missense 10/17 - 1
10-73051504-T-C c.1610T>C p.L537P Missense 10/17 - 1
10-73051503-C-T c.1609C>T p.L537= Synonymous 10/17 - 1
10-73051505-G-A c.1611G>A p.L537= Synonymous 10/17 - 1
10-73051505-G-C c.1611G>C p.L537= Synonymous 10/17 - 1
10-73051505-G-T c.1611G>T p.L537= Synonymous 10/17 - 1
10-73051506-C-T c.1612C>T p.P538S Missense 10/17 - 2
10-73051515-C-A c.1621C>A p.P541T Missense 10/17 - 1
10-73051519-G-A c.1625G>A p.G542E Missense 10/17 - 2
10-73051527-G-A c.1633G>A p.V545I Missense 10/17 - 3
10-73051532-C-T c.1638C>T p.S546= Synonymous 10/17 - 2
10-73051533-G-A c.1639G>A p.G547S Missense 10/17 - 2
10-73051534-G-A c.1640G>A p.G547D Missense 10/17 - 1
10-73051537-C-T c.1643C>T p.T548I Missense 10/17 - 2
10-73051542-G-T c.1648G>T p.G550C Missense 10/17 - 1
10-73051546-G-T c.1652G>T p.C551F Missense 10/17 - 1
10-73051547-C-T c.1653C>T p.C551= Synonymous 10/17 - 2
10-73051557-AGG-CAT c.1663_1665delinsCAT p.R555H Missense 10/17 - 1
10-73051567-T-C c.1673T>C p.I558T Missense 10/17 - 1
10-73051568-C-A c.1674C>A p.I558= Synonymous 10/17 - 1
10-73051568-C-G c.1674C>G p.I558M Missense 10/17 - 2
10-73051568-C-T c.1674C>T p.I558= Synonymous 10/17 - 1
10-73051569-C-T c.1675C>T p.P559S Missense 10/17 - 1
10-73051571-C-G c.1677C>G p.P559= Synonymous 10/17 - 1
10-73051572-G-A c.1678G>A p.G560S Missense 10/17 - 2
10-73051576-CA-TG c.1682_1683inv p.T561M Missense 10/17 - 1
10-73052132-T-A c.1685-92T>A - IntronicSNV - 10/16 1
10-73052132-T-C c.1685-92T>C - IntronicSNV - 10/16 1
10-73052132-T-G c.1685-92T>G - IntronicSNV - 10/16 1
10-73052210-C-T c.1685-14C>T - IntronicSNV - 10/16 1
10-73052230-G-C c.1691G>C p.S564T Missense 11/17 - 1
10-73052245-A-G c.1706A>G p.N569S Missense 11/17 - 1
10-73052249-A-G c.1710A>G p.G570= Synonymous 11/17 - 1
10-73052261-G-A c.1722G>A p.Q574= Synonymous 11/17 - 2
10-73052263-G-A c.1724G>A p.G575D Missense 11/17 - 2
10-73052263-G-T c.1724G>T p.G575V Missense 11/17 - 1
10-73052267-G-A c.1728G>A p.K576= Synonymous 11/17 - 1
10-73052268-T-C c.1729T>C p.F577L Missense 11/17 - 1
10-73052270-C-A c.1731C>A p.F577L Missense 11/17 - 1
10-73052270-C-G c.1731C>G p.F577L Missense 11/17 - 1
10-73052271-T-C c.1732T>C p.Y578H Missense 11/17 - 2
10-73052273-C-T c.1734C>T p.Y578= Synonymous 11/17 - 3
10-73052274-G-A c.1735G>A p.E579K Missense 11/17 - 2
10-73052283-C-T c.1744C>T p.L582= Synonymous 11/17 - 1
10-73052287-T-C c.1748T>C p.L583P Missense 11/17 - 1
10-73052294-C-T c.1755C>T p.N585= Synonymous 11/17 - 1
10-73052308-C-A c.1769C>A p.T590N Missense 11/17 - 1
10-73052448-T-C c.1772+137T>C - IntronicSNV - 11/16 1
10-73052632-G-A c.1772+321G>A - IntronicSNV - 11/16 1
10-73052918-A-T c.1773-244A>T - IntronicSNV - 11/16 2
10-73053119-C-G c.1773-43C>G - IntronicSNV - 11/16 1
10-73053119-C-T c.1773-43C>T - IntronicSNV - 11/16 1
10-73053163-C-T c.1774C>T p.P592S Missense 12/17 - 1
10-73053167-T-C c.1778T>C p.L593P Missense 12/17 - 4
10-73053168-T-A c.1779T>A p.L593= Synonymous 12/17 - 1
10-73053168-T-C c.1779T>C p.L593= Synonymous 12/17 - 1
10-73053168-T-G c.1779T>G p.L593= Synonymous 12/17 - 1
10-73053170-C-T c.1781C>T p.S594L Missense 12/17 - 1
10-73053172-G-A c.1783G>A p.E595K Missense 12/17 - 2
10-73053174-A-G c.1785A>G p.E595= Synonymous 12/17 - 1
10-73053175-GGG-TGT c.1786_1788delinsTGT p.G596C Missense 12/17 - 1
10-73053183-G-A c.1794G>A p.Q598= Synonymous 12/17 - 1
10-73053188-T-A c.1799T>A p.V600E Missense 12/17 - 2
10-73053193-A-G c.1804A>G p.S602G Missense 12/17 - 2
10-73053196-C-T c.1807C>T p.P603S Missense 12/17 - 1
10-73053200-C-T c.1811C>T p.S604L Missense 12/17 - 5
10-73053212-G-A c.1823G>A p.G608E Missense 12/17 - 1
10-73053215-C-T c.1826C>T p.P609L Missense 12/17 - 1
10-73053216-C-G c.1827C>G p.P609= Synonymous 12/17 - 1
10-73053217-A-T c.1828A>T p.T610S Missense 12/17 - 6
10-73053226-C-A c.1837C>A p.L613M Missense 12/17 - 1
10-73053226-C-T c.1837C>T p.L613= Synonymous 12/17 - 1
10-73053228-G-A c.1839G>A p.L613= Synonymous 12/17 - 3
10-73053228-G-C c.1839G>C p.L613= Synonymous 12/17 - 1
10-73053228-G-T c.1839G>T p.L613= Synonymous 12/17 - 1
10-73053235-C-T c.1846C>T p.R616C Missense 12/17 - 1
10-73053236-G-A c.1847G>A p.R616H Missense 12/17 - 1
10-73053238-C-T c.1849C>T p.P617S Missense 12/17 - 1
10-73053239-C-T c.1850C>T p.P617L Missense 12/17 - 1
10-73053247-C-A c.1858C>A p.L620I Missense 12/17 - 1
10-73053251-C-T c.1862C>T p.T621I Missense 12/17 - 1
10-73053266-C-T c.1877C>T p.A626V Missense 12/17 - 2
10-73053267-C-A c.1878C>A p.A626= Synonymous 12/17 - 1
10-73053267-C-G c.1878C>G p.A626= Synonymous 12/17 - 1
10-73053267-C-T c.1878C>T p.A626= Synonymous 12/17 - 2
10-73053268-G-A c.1879G>A p.E627K Missense 12/17 - 7
10-73053271-G-A c.1882G>A p.V628I Missense 12/17 - 1
10-73053271-GTC-ATG c.1882_1884delinsATG p.V628M Missense 12/17 - 1
10-73053279-C-T c.1890C>T p.A630= Synonymous 12/17 - 2
10-73053280-C-G c.1891C>G p.R631G Missense 12/17 - 1
10-73053280-C-T c.1891C>T p.R631C Missense 12/17 - 2
10-73053281-G-A c.1892G>A p.R631H Missense 12/17 - 1
10-73053285-C-G c.1896C>G p.D632E Missense 12/17 - 1
10-73053285-C-T c.1896C>T p.D632= Synonymous 12/17 - 2
10-73053287-G-T c.1898G>T p.W633L Missense 12/17 - 1
10-73053292-T-C c.1903T>C p.F635L Missense 12/17 - 2
10-73053294-T-A c.1905T>A p.F635L Missense 12/17 - 2
10-73053294-T-G c.1905T>G p.F635L Missense 12/17 - 2
10-73053303-G-A c.1914G>A p.K638= Synonymous 12/17 - 2
10-73053303-G-C c.1914G>C p.K638N Missense 12/17 - 2
10-73053303-G-T c.1914G>T p.K638N Missense 12/17 - 1
10-73053310-G-A c.1921G>A p.A641T Missense 12/17 - 1
10-73053315-C-G c.1926C>G p.H642Q Missense 12/17 - 1
10-73053315-C-T c.1926C>T p.H642= Synonymous 12/17 - 1
10-73053316-C-A c.1927C>A p.Q643K Missense 12/17 - 1
10-73053316-C-T c.1927C>T p.Q643* Nonsense 12/17 - 1
10-73053319-G-C c.1930G>C p.G644R Missense 12/17 - 1
10-73053321-C-T c.1932C>T p.G644= Synonymous 12/17 - 1
10-73053322-C-T c.1933C>T p.H645Y Missense 12/17 - 1
10-73053325-T-C c.1936T>C p.W646R Missense 12/17 - 1
10-73053458-A-G c.1943A>G p.E648G Missense 13/17 - 1
10-73053460-G-A c.1945G>A p.V649M Missense 13/17 - 2
10-73053474-T-C c.1959T>C p.D653= Synonymous 13/17 - 1
10-73053477-G-A c.1962G>A p.E654= Synonymous 13/17 - 1
10-73053498-C-A c.1983C>A p.C661* Nonsense 13/17 - 1
10-73053527-A-G c.2012A>G p.H671R Missense 13/17 - 1
10-73053535-C-T c.2020C>T p.L674= Synonymous 13/17 - 2
10-73053537-G-A c.2022G>A p.L674= Synonymous 13/17 - 1
10-73053537-G-C c.2022G>C p.L674= Synonymous 13/17 - 1
10-73053537-G-T c.2022G>T p.L674= Synonymous 13/17 - 1
10-73053541-C-T c.2026C>T p.Q676* Nonsense 13/17 - 1
10-73053548-G-A c.2033G>A p.G678D Missense 13/17 - 1
10-73053553-T-A c.2038T>A p.Y680N Missense 13/17 - 1
10-73053556-G-C c.2041G>C p.V681L Missense 13/17 - 1
10-73053556-G-T c.2041G>T p.V681L Missense 13/17 - 1
10-73053561-C-T c.2046C>T p.F682= Synonymous 13/17 - 1
10-73053562-A-G c.2047A>G p.T683A Missense 13/17 - 1
10-73053563-CG-TC c.2048_2049delinsTC p.T683I Missense 13/17 - 1
10-73053568-G-A c.2053G>A p.E685K Missense 13/17 - 1
10-73053571-TC-AA c.2056_2057delinsAA p.S686N Missense 13/17 - 1
10-73053578-C-G c.2063C>G p.S688C Missense 13/17 - 4
10-73053579-C-T c.2064C>T p.S688= Synonymous 13/17 - 3
10-73053580-C-T c.2065C>T p.R689C Missense 13/17 - 2
10-73053581-G-A c.2066G>A p.R689H Missense 13/17 - 1
10-73053584-C-T c.2069C>T p.S690L Missense 13/17 - 2
10-73053595-C-T c.2080C>T p.R694W Missense 13/17 - 1
10-73053603-G-C c.2088G>C p.Q696H Missense 13/17 - 1
10-73053603-G-T c.2088G>T p.Q696H Missense 13/17 - 1
10-73053604-C-T c.2089C>T p.L697= Synonymous 13/17 - 1
10-73053606-G-A c.2091G>A p.L697= Synonymous 13/17 - 1
10-73053606-G-C c.2091G>C p.L697= Synonymous 13/17 - 1
10-73053606-G-T c.2091G>T p.L697= Synonymous 13/17 - 1
10-73053607-G-C c.2092G>C p.A698P Missense 13/17 - 1
10-73053609-C-G c.2094C>G p.A698= Synonymous 13/17 - 1
10-73053612-C-A c.2097C>A p.V699= Synonymous 13/17 - 1
10-73053612-C-G c.2097C>G p.V699= Synonymous 13/17 - 1
10-73053612-C-T c.2097C>T p.V699= Synonymous 13/17 - 1
10-73053615-C-T c.2100C>T p.F700= Synonymous 13/17 - 2
10-73053616-G-A c.2101G>A p.A701T Missense 13/17 - 4
10-73053616-G-T c.2101G>T p.A701S Missense 13/17 - 1
10-73053617-C-T c.2102C>T p.A701V Missense 13/17 - 3
10-73053622-G-T c.2107G>T p.A703S Missense 13/17 - 1
10-73053622-GC-G c.2110del p.L704Sfs*19 Frameshift 13/17 - 2
10-73053634-T-C c.2119T>C p.S707P Missense 13/17 - 1
10-73053636-C-T c.2121C>T p.S707= Synonymous 13/17 - 1
10-73053656-T-C c.2141T>C p.V714A Missense 13/17 - 1
10-73053664-C-T c.2149C>T p.L717= Synonymous 13/17 - 1
10-73053666-G-A c.2151G>A p.L717= Synonymous 13/17 - 1
10-73053666-G-C c.2151G>C p.L717= Synonymous 13/17 - 1
10-73053666-G-T c.2151G>T p.L717= Synonymous 13/17 - 1
10-73053667-G-T c.2152G>T p.E718* Nonsense 13/17 - 1
10-73053675-G-A c.2160G>A p.T720= Synonymous 13/17 - 1
10-73053679-G-A c.2164G>A p.V722I Missense 13/17 - 1
10-73053681-A-C c.2166A>C p.V722= Synonymous 13/17 - 1
10-73053681-A-G c.2166A>G p.V722= Synonymous 13/17 - 1
10-73053681-A-T c.2166A>T p.V722= Synonymous 13/17 - 1
10-73053825-A-G c.2175+135A>G - IntronicSNV - 13/16 3
10-73054305-T-C c.2175+615T>C - IntronicSNV - 13/16 1
10-73055568-G-A c.2176G>A p.E726K Missense 14/17 - 3
10-73055576-G-A c.2184G>A p.L728= Synonymous 14/17 - 3
10-73055579-G-A c.2187G>A p.E729= Synonymous 14/17 - 2
10-73055580-C-G c.2188C>G p.L730V Missense 14/17 - 1
10-73055586-C-T c.2194C>T p.R732W Missense 14/17 - 1
10-73055587-G-A c.2195G>A p.R732Q Missense 14/17 - 1
10-73055597-C-A c.2205C>A p.G735= Synonymous 14/17 - 1
10-73055597-C-G c.2205C>G p.G735= Synonymous 14/17 - 1
10-73055597-C-T c.2205C>T p.G735= Synonymous 14/17 - 1
10-73055598-G-A c.2206G>A p.G736R Missense 14/17 - 1
10-73055598-G-C c.2206G>C p.G736R Missense 14/17 - 1
10-73055603-C-T c.2211C>T p.Y737= Synonymous 14/17 - 1
10-73055604-T-G c.2212T>G p.L738V Missense 14/17 - 2
10-73055607-G-A c.2215G>A p.V739M Missense 14/17 - 5
10-73055609-G-A c.2217G>A p.V739= Synonymous 14/17 - 2
10-73055609-G-C c.2217G>C p.V739= Synonymous 14/17 - 2
10-73055609-G-T c.2217G>T p.V739= Synonymous 14/17 - 4
10-73055616-C-T c.2224C>T p.P742S Missense 14/17 - 1
10-73055618-G-A c.2226G>A p.P742= Synonymous 14/17 - 4
10-73055618-G-T c.2226G>T p.P742= Synonymous 14/17 - 4
10-73055623-C-T c.2231C>T p.P744L Missense 14/17 - 2
10-73055624-G-A c.2232G>A p.P744= Synonymous 14/17 - 1
10-73055624-G-C c.2232G>C p.P744= Synonymous 14/17 - 1
10-73055624-G-T c.2232G>T p.P744= Synonymous 14/17 - 3
10-73055630-G-A c.2238G>A p.M746I Missense 14/17 - 1
10-73055632-T-C c.2240T>C p.F747S Missense 14/17 - 1
10-73055641-G-A c.2249G>A p.S750N Missense 14/17 - 1
10-73055654-G-T c.2262G>T p.L754= Synonymous 14/17 - 1
10-73055655-C-T c.2263C>T p.R755C Missense 14/17 - 2
10-73055656-G-A c.2264G>A p.R755H Missense 14/17 - 1
10-73055662-C-T c.2270C>T p.S757F Missense 14/17 - 3
10-73055663-C-T c.2271C>T p.S757= Synonymous 14/17 - 3
10-73055666-C-A c.2274C>A p.L758= Synonymous 14/17 - 1
10-73055666-C-G c.2274C>G p.L758= Synonymous 14/17 - 1
10-73055666-C-T c.2274C>T p.L758= Synonymous 14/17 - 2
10-73055675-C-T c.2283C>T p.L761= Synonymous 14/17 - 1
10-73055676-C-G c.2284C>G p.P762A Missense 14/17 - 1
10-73055683-C-A c.2291C>A p.A764D Missense 14/17 - 1
10-73055692-G-A c.2300G>A p.R767K Missense 14/17 - 3
10-73055691-AG-A c.2301del p.S768Afs*103 Frameshift 14/17 - 1
10-73055708-C-CT c.2316_2317insT p.K773* Nonsense 14/17 - 1
10-73055710-A-T c.2318A>T p.K773I Missense 14/17 - 1
10-73055712-T-C c.2320T>C p.Y774H Missense 14/17 - 1
10-73055744-G-A c.2325+27G>A - IntronicSNV - 14/16 1
10-73055849-T-C c.2325+132T>C - IntronicSNV - 14/16 3
10-73055965-A-C c.2325+248A>C - IntronicSNV - 14/16 1
10-73056072-G-A c.2326-263G>A - IntronicSNV - 14/16 1
10-73056072-G-C c.2326-263G>C - IntronicSNV - 14/16 1
10-73056277-C-T c.2326-58C>T - IntronicSNV - 14/16 1
10-73056338-A-G c.2329A>G p.I777V Missense 15/17 - 1
10-73056340-C-T c.2331C>T p.I777= Synonymous 15/17 - 3
10-73056339-TC-T c.2334del p.F779Sfs*92 Frameshift 15/17 - 2
10-73056345-T-G c.2336T>G p.F779C Missense 15/17 - 1
10-73056346-C-A c.2337C>A p.F779L Missense 15/17 - 1
10-73056351-A-G c.2342A>G p.H781R Missense 15/17 - 1
10-73056370-G-A c.2361G>A p.Q787= Synonymous 15/17 - 1
10-73056370-G-C c.2361G>C p.Q787H Missense 15/17 - 1
10-73056374-G-A c.2365G>A p.A789T Missense 15/17 - 1
10-73056378-T-C c.2369T>C p.L790P Missense 15/17 - 1
10-73056383-T-A c.2374T>A p.C792S Missense 15/17 - 2
10-73056384-G-C c.2375G>C p.C792S Missense 15/17 - 4
10-73056385-C-T c.2376C>T p.C792= Synonymous 15/17 - 2
10-73056387-C-G c.2378C>G p.T793S Missense 15/17 - 2
10-73056394-C-T c.2385C>T p.T795= Synonymous 15/17 - 1
10-73056395-C-T c.2386C>T p.L796= Synonymous 15/17 - 1
10-73056397-G-A c.2388G>A p.L796= Synonymous 15/17 - 1
10-73056397-G-C c.2388G>C p.L796= Synonymous 15/17 - 1
10-73056397-G-T c.2388G>T p.L796= Synonymous 15/17 - 1
10-73056398-G-T c.2389G>T p.E797* Nonsense 15/17 - 1
10-73056408-G-T c.2399G>T p.S800I Missense 15/17 - 2
10-73056410-T-C c.2401T>C p.L801= Synonymous 15/17 - 1
10-73056412-G-A c.2403G>A p.L801= Synonymous 15/17 - 1
10-73056412-G-C c.2403G>C p.L801F Missense 15/17 - 1
10-73056413-G-A c.2404G>A p.A802T Missense 15/17 - 3
10-73056419-CA-C c.2410del p.T804Qfs*67 Frameshift 15/17 - 1
10-73056422-G-T c.2413G>T p.E805* Nonsense 15/17 - 1
10-73056420-CAG-C c.2414_2415del p.E805Afs*74 Frameshift 15/17 - 2
10-73056424-AG-A c.2415del p.E805Dfs*66 Frameshift 15/17 - 2
10-73056425-C-T c.2416C>T p.L806F Missense 15/17 - 1
10-73056436-G-GATATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCAC c.2429_2430insATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCACAT p.C811Ffs*77 Frameshift 15/17 - 1
10-73056439-C-G c.2430C>G p.I810M Missense 15/17 - 1
10-73056442-C-T c.2433C>T p.C811= Synonymous 15/17 - 1
10-73056443-G-A c.2434G>A p.V812M Missense 15/17 - 2
10-73056446-C-T c.2437C>T p.R813W Missense 15/17 - 2
10-73056452-AGTGGAAGGGGAGGGC-A c.2443_2457del p.V815_G819del InFrameDeletion 15/17 - 1
10-73056453-T-C c.2444T>C p.V815A Missense 15/17 - 1
10-73056458-G-A c.2449G>A p.G817R Missense 15/17 - 1
10-73056458-G-C c.2449G>C p.G817R Missense 15/17 - 1
10-73056460-G-C c.2451G>C p.G817= Synonymous 15/17 - 3
10-73056460-G-GT c.2451_2452insT p.E818* Nonsense 15/17 - 1
10-73056461-G-A c.2452G>A p.E818K Missense 15/17 - 1
10-73056462-A-G c.2453A>G p.E818G Missense 15/17 - 1
10-73056464-GGGC-G c.2455_2457del p.G819del InFrameDeletion 15/17 - 1
10-73056462-AGGGCCAGATATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAAGTCG-A c.2460_2490+19del - SpliceDonorDeletion 15/17 15/16 1
10-73056469-G-C c.2460G>C p.Q820H Missense 15/17 - 2
10-73056469-G-T c.2460G>T p.Q820H Missense 15/17 - 1
10-73056472-A-G c.2463A>G p.I821M Missense 15/17 - 3
10-73056476-C-A c.2467C>A p.Q823K Missense 15/17 - 1
10-73056476-C-T c.2467C>T p.Q823* Nonsense 15/17 - 2
10-73056479-C-T c.2470C>T p.L824= Synonymous 15/17 - 1
10-73056481-G-A c.2472G>A p.L824= Synonymous 15/17 - 1
10-73056481-G-C c.2472G>C p.L824= Synonymous 15/17 - 1
10-73056481-G-T c.2472G>T p.L824= Synonymous 15/17 - 1
10-73056469-GATATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCAC-G c.2475_2490+34del - SpliceDonorDeletion 15/17 15/16 1
10-73056484-T-C c.2475T>C p.H825= Synonymous 15/17 - 5
10-73056485-TACCACTCTGGCAGAG-T c.2476_2490del p.T827_T831del SpliceDonorDeletion 15/17 - 1
10-73056490-T-A c.2481T>A p.T827= Synonymous 15/17 - 3
10-73056490-T-G c.2481T>G p.T827= Synonymous 15/17 - 3
10-73056496-A-C c.2487A>C p.A829= Synonymous 15/17 - 1
10-73056496-A-G c.2487A>G p.A829= Synonymous 15/17 - 5
10-73056496-A-T c.2487A>T p.A829= Synonymous 15/17 - 1
10-73056499-G-A c.2490G>A p.E830= Synonymous 15/17 - 2
10-73056534-C-T c.2490+35C>T - IntronicSNV - 15/16 2
10-73056540-A-G c.2490+41A>G - IntronicSNV - 15/16 5
10-73056540-A-T c.2490+41A>T - IntronicSNV - 15/16 3
10-73056496-A-AGAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCACACCACGCTGGCG c.2490+60_2490+61insTCGGGGCCACATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAG - Frameshift - 15/16 1
10-73056560-G-T c.2490+61G>T - IntronicSNV - 15/16 1
10-73056561-G-C c.2490+62G>C - IntronicSNV - 15/16 1
10-73056562-T-G c.2490+63T>G - IntronicSNV - 15/16 1
10-73056566-G-C c.2490+67G>C - IntronicSNV - 15/16 1
10-73056569-G-C c.2490+70G>C - IntronicSNV - 15/16 1
10-73056590-G-A c.2490+91G>A - IntronicSNV - 15/16 1
10-73056596-G-A c.2490+97G>A - IntronicSNV - 15/16 1
10-73056612-T-G c.2490+113T>G - IntronicSNV - 15/16 1
10-73057360-A-T c.2491-306A>T - IntronicSNV - 15/16 1
10-73057676-G-A c.2501G>A p.G834D Missense 16/17 - 1
10-73057679-C-T c.2504C>T p.S835F Missense 16/17 - 1
10-73057680-C-A c.2505C>A p.S835= Synonymous 16/17 - 1
10-73057680-C-G c.2505C>G p.S835= Synonymous 16/17 - 1
10-73057680-C-T c.2505C>T p.S835= Synonymous 16/17 - 1
10-73057681-C-T c.2506C>T p.L836= Synonymous 16/17 - 2
10-73057683-G-A c.2508G>A p.L836= Synonymous 16/17 - 1
10-73057683-G-C c.2508G>C p.L836= Synonymous 16/17 - 1
10-73057683-G-T c.2508G>T p.L836= Synonymous 16/17 - 1
10-73057696-TC-AA c.2521_2522delinsAA p.S841N Missense 16/17 - 1
10-73057704-T-C c.2529T>C p.P843= Synonymous 16/17 - 1
10-73057706-G-A c.2531G>A p.G844D Missense 16/17 - 2
10-73057715-T-G c.2540T>G p.V847G Missense 16/17 - 1
10-73057724-A-G c.2549A>G p.Q850R Missense 16/17 - 1
10-73057726-C-T c.2551C>T p.L851= Synonymous 16/17 - 1
10-73057728-G-A c.2553G>A p.L851= Synonymous 16/17 - 1
10-73057728-G-C c.2553G>C p.L851= Synonymous 16/17 - 2
10-73057728-G-T c.2553G>T p.L851= Synonymous 16/17 - 3
10-73057749-C-T c.2574C>T p.I858= Synonymous 16/17 - 1
10-73057750-C-T c.2575C>T p.P859S Missense 16/17 - 1
10-73057755-G-A c.2580G>A p.L860= Synonymous 16/17 - 6
10-73057755-G-C c.2580G>C p.L860= Synonymous 16/17 - 7
10-73057757-C-T c.2582C>T p.S861F Missense 16/17 - 5
10-73057761-C-T c.2586C>T p.I862= Synonymous 16/17 - 3
10-73057762-C-T c.2587C>T p.R863C Missense 16/17 - 4
10-73057763-G-A c.2588G>A p.R863H Missense 16/17 - 4
10-73057766-A-G c.2591A>G p.Q864R Missense 16/17 - 1
10-73057778-A-G c.2603A>G p.N868S Missense 16/17 - 3
10-73057786-G-T c.2611G>T p.D871Y Missense 16/17 - 1
10-73057790-C-A c.2615C>A p.A872D Missense 16/17 - 1
10-73057790-C-T c.2615C>T p.A872V Missense 16/17 - 1
10-73057792-C-T c.2617C>T p.P873S Missense 16/17 - 1
10-73057793-C-A c.2618C>A p.P873H Missense 16/17 - 1
10-73057789-GC-G c.2619del p.N874Tfs*10 Frameshift 16/17 - 1
10-73057801-C-T c.2626C>T p.R876W Missense 16/17 - 3
10-73057803-G-A c.2628G>A p.R876= Synonymous 16/17 - 2
10-73057804-G-A c.2629G>A p.G877S Missense 16/17 - 1
10-73057812-C-G c.2637C>G p.D879E Missense 16/17 - 1
10-73057816-C-T c.2641C>T p.R881W Missense 16/17 - 1
10-73057817-G-A c.2642G>A p.R881Q Missense 16/17 - 2
10-73057817-GG-AT c.2642_2643delinsAT p.R881H Missense 16/17 - 1
10-73057818-G-A c.2643G>A p.R881= Synonymous 16/17 - 2
10-73057821-G-A c.2646G>A p.M882I Missense 16/17 - 2
10-73057821-G-C c.2646G>C p.M882I Missense 16/17 - 1
10-73057821-G-T c.2646G>T p.M882I Missense 16/17 - 1
10-73057825-G-A c.2650G>A p.A884T Missense 16/17 - 1
10-73057827-A-C c.2652A>C p.A884= Synonymous 16/17 - 1
10-73057827-A-G c.2652A>G p.A884= Synonymous 16/17 - 1
10-73057827-A-T c.2652A>T p.A884= Synonymous 16/17 - 1
10-73057828-C-A c.2653C>A p.Q885K Missense 16/17 - 1
10-73057842-G-A c.2667G>A p.M889I Missense 16/17 - 1
10-73057846-C-T c.2671C>T p.R891W Missense 16/17 - 3
10-73058372-T-A c.2673-497T>A - IntronicSNV - 16/16 1
10-73058469-A-G c.2673-400A>G - IntronicSNV - 16/16 1
10-73058558-A-G c.2673-311A>G - IntronicSNV - 16/16 1
10-73058873-CT-TC c.2677_2678delinsTC p.L893S Missense 17/17 - 1
10-73058886-C-T c.2690C>T p.A897V Missense 17/17 - 1
10-73058894-G-A c.2698G>A p.A900T Missense 17/17 - 1
10-73058899-C-T c.2703C>T p.S901= Synonymous 17/17 - 2
10-73058900-C-T c.2704C>T p.P902S Missense 17/17 - 1
10-73058904-C-T c.2708C>T p.T903M Missense 17/17 - 5
10-73058914-C-A c.2718C>A p.I906= Synonymous 17/17 - 1
10-73058914-C-T c.2718C>T p.I906= Synonymous 17/17 - 4
10-73058915-C-T c.2719C>T p.L907= Synonymous 17/17 - 1
10-73058917-G-A c.2721G>A p.L907= Synonymous 17/17 - 1
10-73058917-G-C c.2721G>C p.L907= Synonymous 17/17 - 1
10-73058917-G-T c.2721G>T p.L907= Synonymous 17/17 - 1
10-73058922-T-A c.2726T>A p.L909H Missense 17/17 - 2
10-73058926-G-A c.2730G>A p.W910* Nonsense 17/17 - 3
10-73058927-G-A c.2731G>A p.E911K Missense 17/17 - 3
10-73058927-G-T c.2731G>T p.E911* Nonsense 17/17 - 1
10-73058934-T-A c.2738T>A p.L913Q Missense 17/17 - 1
10-73058935-G-A c.2739G>A p.L913= Synonymous 17/17 - 1
10-73058945-G-A c.2749G>A p.D917N Missense 17/17 - 1
10-73058945-G-C c.2749G>C p.D917H Missense 17/17 - 1
10-73058945-G-T c.2749G>T p.D917Y Missense 17/17 - 1
10-73058950-G-A c.2754G>A p.G918= Synonymous 17/17 - 1
10-73058950-G-C c.2754G>C p.G918= Synonymous 17/17 - 1
10-73058950-G-T c.2754G>T p.G918= Synonymous 17/17 - 1
10-73058967-C-T c.2771C>T p.A924V Missense 17/17 - 2
10-73058968-G-A c.2772G>A p.A924= Synonymous 17/17 - 2
10-73058980-G-C c.2784G>C p.E928D Missense 17/17 - 1
10-73058980-G-T c.2784G>T p.E928D Missense 17/17 - 1
10-73058981-G-A c.2785G>A p.E929K Missense 17/17 - 5
10-73058986-G-A c.2790G>A p.M930I Missense 17/17 - 6
10-73058986-G-C c.2790G>C p.M930I Missense 17/17 - 2
10-73058986-G-T c.2790G>T p.M930I Missense 17/17 - 2
10-73058988-G-A c.2792G>A p.G931D Missense 17/17 - 1
10-73058996-G-A c.2800G>A p.E934K Missense 17/17 - 1
10-73059004-G-T c.2808G>T p.L936= Synonymous 17/17 - 1
10-73059008-G-A c.2812G>A p.A938T Missense 17/17 - 2
10-73059019-C-A c.2823C>A p.T941= Synonymous 17/17 - 2
10-73059019-C-G c.2823C>G p.T941= Synonymous 17/17 - 2
10-73059019-C-T c.2823C>T p.T941= Synonymous 17/17 - 3
10-73059022-C-A c.2826C>A p.D942E Missense 17/17 - 1
10-73059022-C-G c.2826C>G p.D942E Missense 17/17 - 1
10-73059022-C-T c.2826C>T p.D942= Synonymous 17/17 - 1
10-73059027-GA-G c.2831del p.D944Afs*54 Frameshift 17/17 - 1
10-73059104-G-A c.*70G>A - 3-UTRSNV 17/17 - 1
10-73059358-C-G c.*324C>G - 3-UTRSNV 17/17 - 3
10-73059389-A-C c.*355A>C - 3-UTRSNV 17/17 - 3
10-73059389-A-G c.*355A>G - 3-UTRSNV 17/17 - 3
10-73059827-C-G c.*793C>G - 3-UTRSNV 17/17 - 1
10-73059827-C-T c.*793C>T - 3-UTRSNV 17/17 - 1
10-73060065-C-T c.*1031C>T - 3-UTRSNV 17/17 - 1
10-73060277-G-A c.*1243G>A - 3-UTRSNV 17/17 - 1
10-73061502-A-G c.*2468A>G - 3-UTRSNV 17/17 - 1
10-73061708-A-G c.*2674A>G - 3-UTRSNV 17/17 - 1
10-73062048-G-A c.*3014G>A - 3-UTRSNV 17/17 - 1
10-73062048-G-T c.*3014G>T - 3-UTRSNV 17/17 - 1
10-73062149-A-C c.*3115A>C - 3-UTRSNV 17/17 - 1
10-73062149-A-G c.*3115A>G - 3-UTRSNV 17/17 - 1
10-73062149-A-T c.*3115A>T - 3-UTRSNV 17/17 - 1
10-73062488-G-A c.*3454G>A - 3-UTRSNV 17/17 - 1