KLK1

KLK1 kallikrein 1

Annotation transcript: NM_002257.4

415 unique variant annotations were identified in 312 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
19-51322451-C-T c.788G>A p.*263= Synonymous 5/5 - 2
19-51322455-A-T c.784T>A p.S262T Missense 5/5 - 1
19-51322459-C-A c.780G>T p.E260D Missense 5/5 - 5
19-51322459-C-G c.780G>C p.E260D Missense 5/5 - 3
19-51322461-C-A c.778G>T p.E260* Nonsense 5/5 - 1
19-51322461-C-T c.778G>A p.E260K Missense 5/5 - 1
19-51322462-C-T c.777G>A p.A259= Synonymous 5/5 - 1
19-51322463-G-A c.776C>T p.A259V Missense 5/5 - 6
19-51322465-T-A c.774A>T p.I258= Synonymous 5/5 - 1
19-51322465-T-G c.774A>C p.I258= Synonymous 5/5 - 1
19-51322467-T-C c.772A>G p.I258V Missense 5/5 - 1
19-51322468-G-A c.771C>T p.T257= Synonymous 5/5 - 1
19-51322469-G-A c.770C>T p.T257I Missense 5/5 - 1
19-51322469-G-T c.770C>A p.T257N Missense 5/5 - 1
19-51322472-T-G c.767A>C p.D256A Missense 5/5 - 1
19-51322474-C-T c.765G>A p.E255= Synonymous 5/5 - 1
19-51322476-C-T c.763G>A p.E255K Missense 5/5 - 5
19-51322477-G-A c.762C>T p.I254= Synonymous 5/5 - 4
19-51322484-T-A c.755A>T p.K252M Missense 5/5 - 7
19-51322486-C-A c.753G>T p.V251= Synonymous 5/5 - 2
19-51322486-C-G c.753G>C p.V251= Synonymous 5/5 - 1
19-51322486-C-T c.753G>A p.V251= Synonymous 5/5 - 1
19-51322488-C-T c.751G>A p.V251M Missense 5/5 - 3
19-51322490-T-C c.749A>G p.Y250C Missense 5/5 - 1
19-51322493-G-A c.746C>T p.S249F Missense 5/5 - 1
19-51322498-CAC-GAT c.739_741delinsATC p.V247I Missense 5/5 - 1
19-51322498-C-T c.741G>A p.V247= Synonymous 5/5 - 2
19-51322500-C-T c.739G>A p.V247M Missense 5/5 - 2
19-51322501-T-G c.738A>C p.R246S Missense 5/5 - 1
19-51322506-C-T c.733G>A p.V245I Missense 5/5 - 3
19-51322507-G-A c.732C>T p.A244= Synonymous 5/5 - 3
19-51322507-G-T c.732C>A p.A244= Synonymous 5/5 - 1
19-51322508-G-A c.731C>T p.A244V Missense 5/5 - 3
19-51322509-C-T c.730G>A p.A244T Missense 5/5 - 3
19-51322510-G-A c.729C>T p.V243= Synonymous 5/5 - 1
19-51322510-G-C c.729C>G p.V243= Synonymous 5/5 - 1
19-51322510-G-T c.729C>A p.V243= Synonymous 5/5 - 1
19-51322511-A-G c.728T>C p.V243A Missense 5/5 - 3
19-51322515-A-G c.724T>C p.S242P Missense 5/5 - 2
19-51322516-AGGCTTATTGGG-A c.712_722del p.P238Ffs*? Frameshift 5/5 - 1
19-51322519-C-T c.720G>A p.K240= Synonymous 5/5 - 1
19-51322526-G-A c.713C>T p.P238L Missense 5/5 - 1
19-51322527-G-GAA c.711_712insTT p.P238Ffs*15 Frameshift 5/5 - 1
19-51322528-G-A c.711C>T p.T237= Synonymous 5/5 - 3
19-51322528-G-C c.711C>G p.T237= Synonymous 5/5 - 1
19-51322528-G-T c.711C>A p.T237= Synonymous 5/5 - 1
19-51322530-T-C c.709A>G p.T237A Missense 5/5 - 1
19-51322531-G-A c.708C>T p.G236= Synonymous 5/5 - 1
19-51322531-G-C c.708C>G p.G236= Synonymous 5/5 - 1
19-51322531-GC-CT c.707_708delinsAG p.G236E Missense 5/5 - 1
19-51322531-G-T c.708C>A p.G236= Synonymous 5/5 - 1
19-51322533-C-T c.706G>A p.G236S Missense 5/5 - 1
19-51322535-C-T c.704G>A p.C235Y Missense 5/5 - 3
19-51322538-G-A c.701C>T p.P234L Missense 5/5 - 1
19-51322539-G-C c.700C>G p.P234A Missense 5/5 - 2
19-51322540-G-A c.699C>T p.V233= Synonymous 5/5 - 1
19-51322541-A-T c.698T>A p.V233D Missense 5/5 - 1
19-51322539-GGACGTAGCCCCATGATGT-G c.682_699del p.T228_V233del InFrameDeletion 5/5 - 1
19-51322546-G-T c.693C>A p.G231= Synonymous 5/5 - 1
19-51322547-C-T c.692G>A p.G231D Missense 5/5 - 2
19-51322548-C-T c.691G>A p.G231S Missense 5/5 - 2
19-51322550-C-G c.689G>C p.W230S Missense 5/5 - 1
19-51322553-G-A c.686C>T p.S229L Missense 5/5 - 3
19-51322553-G-C c.686C>G p.S229* Nonsense 5/5 - 1
19-51322555-T-A c.684A>T p.T228= Synonymous 5/5 - 1
19-51322555-T-C c.684A>G p.T228= Synonymous 5/5 - 1
19-51322555-T-G c.684A>C p.T228= Synonymous 5/5 - 1
19-51322556-G-A c.683C>T p.T228I Missense 5/5 - 1
19-51322557-T-A c.682A>T p.T228S Missense 5/5 - 1
19-51322561-AC-CT c.677_678delinsAG p.G226E Missense 5/5 - 1
19-51322562-C-T c.677G>A p.G226D Missense 5/5 - 4
19-51322563-C-A c.676G>T p.G226C Missense 5/5 - 1
19-51322564-T-A c.675A>T p.Q225H Missense 5/5 - 1
19-51322566-G-A c.673C>T p.Q225* Nonsense 5/5 - 3
19-51322568-A-T c.671T>A p.L224H Missense 5/5 - 1
19-51322570-C-A c.669G>T p.V223= Synonymous 5/5 - 1
19-51322570-C-G c.669G>C p.V223= Synonymous 5/5 - 2
19-51322570-C-T c.669G>A p.V223= Synonymous 5/5 - 1
19-51322574-C-A c.665G>T p.G222V Missense 5/5 - 1
19-51322580-C-G c.659G>C p.C220S Missense 5/5 - 1
19-51322580-C-T c.659G>A p.C220Y Missense 5/5 - 1
19-51322582-C-A c.657G>T p.M219I Missense 5/5 - 1
19-51322582-C-G c.657G>C p.M219I Missense 5/5 - 1
19-51322582-C-T c.657G>A p.M219I Missense 5/5 - 1
19-51322585-C-T c.654G>A p.L218= Synonymous 5/5 - 1
19-51322586-A-G c.653T>C p.L218P Missense 5/5 - 1
19-51322589-G-A c.650C>T p.P217L Missense 5/5 - 2
19-51322591-G-C c.648C>G p.G216= Synonymous 5/5 - 1
19-51322592-C-T c.647G>A p.G216D Missense 5/5 - 1
19-51322594-CCC-GCT c.643_645delinsAGC p.G215S Missense 5/5 - 1
19-51322595-C-T c.644G>A p.G215E Missense 5/5 - 1
19-51322601-T-A c.638A>T p.D213V Missense 5/5 - 2
19-51322602-C-T c.637G>A p.D213N Missense 5/5 - 1
19-51322605-C-A c.634G>T p.G212C Missense 5/5 - 1
19-51322605-C-G c.634G>C p.G212R Missense 5/5 - 1
19-51322605-C-T c.634G>A p.G212S Missense 5/5 - 2
19-51322792-T-A c.634-187A>T - IntronicSNV - 4/4 1
19-51322792-T-C c.634-187A>G - IntronicSNV - 4/4 1
19-51322792-T-G c.634-187A>C - IntronicSNV - 4/4 1
19-51322814-T-A c.634-209A>T - IntronicSNV - 4/4 1
19-51322836-T-C c.634-231A>G - IntronicSNV - 4/4 2
19-51322879-C-G c.634-274G>C - IntronicSNV - 4/4 1
19-51322879-C-T c.634-274G>A - IntronicSNV - 4/4 1
19-51323100-G-C c.633+55C>G - IntronicSNV - 4/4 1
19-51323154-C-T c.633+1G>A - IntronicSNV - 4/4 1
19-51323157-C-T c.631G>A p.V211M Missense 4/5 - 1
19-51323161-G-A c.627C>T p.T209= Synonymous 4/5 - 1
19-51323162-G-C c.626C>G p.T209S Missense 4/5 - 3
19-51323163-T-A c.625A>T p.T209S Missense 4/5 - 1
19-51323174-C-A c.614G>T p.G205V Missense 4/5 - 1
19-51323175-C-T c.613G>A p.G205S Missense 4/5 - 1
19-51323181-G-T c.607C>A p.L203M Missense 4/5 - 1
19-51323185-T-G c.603A>C p.G201= Synonymous 4/5 - 1
19-51323186-C-T c.602G>A p.G201E Missense 4/5 - 1
19-51323187-C-A c.601G>T p.G201* Nonsense 4/5 - 1
19-51323196-G-A c.592C>T p.L198= Synonymous 4/5 - 1
19-51323200-G-A c.588C>T p.F196= Synonymous 4/5 - 1
19-51323205-C-G c.583G>C p.D195H Missense 4/5 - 3
19-51323206-T-A c.582A>T p.T194= Synonymous 4/5 - 1
19-51323206-T-C c.582A>G p.T194= Synonymous 4/5 - 1
19-51323206-T-G c.582A>C p.T194= Synonymous 4/5 - 1
19-51323207-G-T c.581C>A p.T194K Missense 4/5 - 2
19-51323210-A-G c.578T>C p.V193A Missense 4/5 - 1
19-51323210-A-T c.578T>A p.V193E Missense 4/5 - 4
19-51323215-C-T c.573G>A p.Q191= Synonymous 4/5 - 3
19-51323217-G-C c.571C>G p.Q191E Missense 4/5 - 1
19-51323221-G-A c.567C>T p.H189= Synonymous 4/5 - 4
19-51323223-G-A c.565C>T p.H189Y Missense 4/5 - 1
19-51323223-G-T c.565C>A p.H189N Missense 4/5 - 1
19-51323226-C-T c.562G>A p.A188T Missense 4/5 - 1
19-51323229-T-C c.559A>G p.K187E Missense 4/5 - 2
19-51323229-T-G c.559A>C p.K187Q Missense 4/5 - 3
19-51323230-T-C c.558A>G p.K186= Synonymous 4/5 - 2
19-51323226-C-CT c.561dup p.A188Sfs*26 Frameshift 4/5 - 3
19-51323226-CT-C c.561del p.A188Pfs*6 Frameshift 4/5 - 1
19-51323232-T-C c.556A>G p.K186E Missense 4/5 - 43
19-51323232-T-G c.556A>C p.K186Q Missense 4/5 - 6
19-51323233-G-A c.555C>T p.C185= Synonymous 4/5 - 1
19-51323234-C-T c.554G>A p.C185Y Missense 4/5 - 1
19-51323240-T-C c.548A>G p.D183G Missense 4/5 - 2
19-51323240-T-G c.548A>C p.D183A Missense 4/5 - 3
19-51323241-C-T c.547G>A p.D183N Missense 4/5 - 4
19-51323257-G-A c.531C>T p.L177= Synonymous 4/5 - 4
19-51323257-G-C c.531C>G p.L177= Synonymous 4/5 - 1
19-51323257-G-T c.531C>A p.L177= Synonymous 4/5 - 1
19-51323259-G-A c.529C>T p.L177F Missense 4/5 - 1
19-51323259-G-C c.529C>G p.L177V Missense 4/5 - 1
19-51323259-G-T c.529C>A p.L177I Missense 4/5 - 1
19-51323265-C-T c.523G>A p.V175M Missense 4/5 - 1
19-51323268-A-C c.520T>G p.C174G Missense 4/5 - 1
19-51323270-T-G c.518A>C p.Q173P Missense 4/5 - 1
19-51323272-G-A c.516C>T p.L172= Synonymous 4/5 - 4
19-51323272-G-C c.516C>G p.L172= Synonymous 4/5 - 3
19-51323272-G-T c.516C>A p.L172= Synonymous 4/5 - 3
19-51323274-G-A c.514C>T p.L172F Missense 4/5 - 6
19-51323274-G-C c.514C>G p.L172V Missense 4/5 - 2
19-51323274-G-T c.514C>A p.L172I Missense 4/5 - 2
19-51323279-T-A c.509A>T p.D170V Missense 4/5 - 1
19-51323281-T-TG c.506dup p.D170Rfs*2 Frameshift 4/5 - 1
19-51323283-G-A c.505C>T p.P169S Missense 4/5 - 2
19-51323288-G-C c.500C>G p.S167* Nonsense 4/5 - 1
19-51323288-G-T c.500C>A p.S167* Nonsense 4/5 - 1
19-51323361-G-A c.496+49C>T - IntronicSNV - 3/4 2
19-51323378-C-T c.496+32G>A - IntronicSNV - 3/4 2
19-51323414-C-A c.492G>T p.E164D Missense 3/5 - 1
19-51323414-C-G c.492G>C p.E164D Missense 3/5 - 1
19-51323419-G-A c.487C>T p.P163S Missense 3/5 - 1
19-51323423-G-A c.483C>T p.I161= Synonymous 3/5 - 3
19-51323426-G-A c.480C>T p.S160= Synonymous 3/5 - 1
19-51323427-C-T c.479G>A p.S160N Missense 3/5 - 2
19-51323431-C-A c.475G>T p.G159C Missense 3/5 - 1
19-51323431-C-T c.475G>A p.G159S Missense 3/5 - 1
19-51323432-C-T c.474G>A p.W158* Nonsense 3/5 - 1
19-51323433-C-A c.473G>T p.W158L Missense 3/5 - 1
19-51323433-C-T c.473G>A p.W158* Nonsense 3/5 - 1
19-51323435-G-A c.471C>T p.G157= Synonymous 3/5 - 1
19-51323437-C-T c.469G>A p.G157S Missense 3/5 - 1
19-51323439-G-T c.467C>A p.S156Y Missense 3/5 - 1
19-51323440-A-G c.466T>C p.S156P Missense 3/5 - 1
19-51323448-C-G c.458G>C p.C153S Missense 3/5 - 1
19-51323453-G-A c.453C>T p.S151= Synonymous 3/5 - 1
19-51323453-G-C c.453C>G p.S151R Missense 3/5 - 1
19-51323453-G-T c.453C>A p.S151R Missense 3/5 - 1
19-51323455-T-G c.451A>C p.S151R Missense 3/5 - 1
19-51323456-C-A c.450G>T p.G150= Synonymous 3/5 - 1
19-51323458-C-A c.448G>T p.G150W Missense 3/5 - 1
19-51323458-C-G c.448G>C p.G150R Missense 3/5 - 2
19-51323458-C-T c.448G>A p.G150R Missense 3/5 - 2
19-51323459-C-T c.447G>A p.V149= Synonymous 3/5 - 1
19-51323460-A-G c.446T>C p.V149A Missense 3/5 - 3
19-51323464-C-G c.442G>C p.E148Q Missense 3/5 - 2
19-51323464-C-T c.442G>A p.E148K Missense 3/5 - 4
19-51323467-G-A c.439C>T p.P147S Missense 3/5 - 1
19-51323468-T-C c.438A>G p.E146= Synonymous 3/5 - 1
19-51323470-C-T c.436G>A p.E146K Missense 3/5 - 1
19-51323471-C-G c.435G>C p.E145D Missense 3/5 - 1
19-51323471-C-T c.435G>A p.E145= Synonymous 3/5 - 3
19-51323473-C-G c.433G>C p.E145Q Missense 3/5 - 55
19-51323473-C-T c.433G>A p.E145K Missense 3/5 - 1
19-51323477-G-A c.429C>T p.P143= Synonymous 3/5 - 1
19-51323477-G-T c.429C>A p.P143= Synonymous 3/5 - 1
19-51323483-C-T c.423G>A p.E141= Synonymous 3/5 - 1
19-51323485-C-A c.421G>T p.E141* Nonsense 3/5 - 1
19-51323488-C-T c.418G>A p.V140M Missense 3/5 - 3
19-51323489-G-A c.417C>T p.V139= Synonymous 3/5 - 3
19-51323489-G-C c.417C>G p.V139= Synonymous 3/5 - 1
19-51323489-G-T c.417C>A p.V139= Synonymous 3/5 - 1
19-51323490-A-G c.416T>C p.V139A Missense 3/5 - 1
19-51323492-C-A c.414G>T p.K138N Missense 3/5 - 1
19-51323492-C-G c.414G>C p.K138N Missense 3/5 - 1
19-51323497-C-T c.409G>A p.V137M Missense 3/5 - 1
19-51323499-G-A c.407C>T p.A136V Missense 3/5 - 2
19-51323501-A-G c.405T>C p.D135= Synonymous 3/5 - 26
19-51323501-A-T c.405T>A p.D135E Missense 3/5 - 7
19-51323502-T-C c.404A>G p.D135G Missense 3/5 - 1
19-51323503-C-T c.403G>A p.D135N Missense 3/5 - 2
19-51323505-G-T c.401C>A p.T134K Missense 3/5 - 1
19-51323520-G-A c.386C>T p.P129L Missense 3/5 - 1
19-51323520-G-C c.386C>G p.P129R Missense 3/5 - 7
19-51323521-G-A c.385C>T p.P129S Missense 3/5 - 2
19-51323527-T-C c.379A>G p.T127A Missense 3/5 - 1
19-51323533-G-T c.373C>A p.R125S Missense 3/5 - 1
19-51323534-G-A c.372C>T p.L124= Synonymous 3/5 - 1
19-51323539-G-C c.367C>G p.L123V Missense 3/5 - 1
19-51323543-G-A c.363C>T p.L121= Synonymous 3/5 - 1
19-51323550-T-TCA c.355_356insTG p.H119Lfs*9 Frameshift 3/5 - 1
19-51323551-G-T c.355C>A p.H119N Missense 3/5 - 2
19-51323553-C-G c.353G>C p.S118T Missense 3/5 - 1
19-51323554-T-A c.352A>T p.S118C Missense 3/5 - 1
19-51323554-T-G c.352A>C p.S118R Missense 3/5 - 2
19-51323564-G-C c.342C>G p.D114E Missense 3/5 - 1
19-51323564-G-T c.342C>A p.D114E Missense 3/5 - 1
19-51323565-T-C c.341A>G p.D114G Missense 3/5 - 3
19-51323573-GC-TT c.332_333delinsAA p.R111Q Missense 3/5 - 1
19-51323575-G-A c.331C>T p.R111C Missense 3/5 - 2
19-51323577-G-A c.329C>T p.T110I Missense 3/5 - 5
19-51323578-T-G c.328A>C p.T110P Missense 3/5 - 1
19-51323580-T-G c.326A>C p.H109P Missense 3/5 - 4
19-51323581-G-A c.325C>T p.H109Y Missense 3/5 - 3
19-51323587-C-T c.319G>A p.E107K Missense 3/5 - 2
19-51323588-C-T c.318G>A p.L106= Synonymous 3/5 - 3
19-51323595-C-T c.311G>A p.S104N Missense 3/5 - 1
19-51323597-C-A c.309G>T p.M103I Missense 3/5 - 1
19-51323597-C-G c.309G>C p.M103I Missense 3/5 - 1
19-51323597-C-T c.309G>A p.M103I Missense 3/5 - 1
19-51323614-G-A c.292C>T p.H98Y Missense 3/5 - 2
19-51323615-T-C c.291A>G p.P97= Synonymous 3/5 - 3
19-51323616-G-A c.290C>T p.P97L Missense 3/5 - 1
19-51323621-G-C c.285C>G p.S95R Missense 3/5 - 1
19-51323621-G-T c.285C>A p.S95R Missense 3/5 - 1
19-51323623-T-G c.283A>C p.S95R Missense 3/5 - 1
19-51323622-CT-GG c.283_284delinsCC p.S95P Missense 3/5 - 1
19-51323623-T-C c.283A>G p.S95G Missense 3/5 - 1
19-51323630-G-A c.276C>T p.V92= Synonymous 3/5 - 1
19-51323631-A-G c.275T>C p.V92A Missense 3/5 - 2
19-51323632-C-T c.274G>A p.V92I Missense 3/5 - 4
19-51323634-TG-GC c.271_272delinsGC p.H91A Missense 3/5 - 1
19-51323635-G-A c.271C>T p.H91Y Missense 3/5 - 2
19-51323638-C-T c.268G>A p.V90I Missense 3/5 - 1
19-51323644-G-T c.262C>A p.Q88K Missense 3/5 - 1
19-51323647-C-CG c.258_259insC p.A87Rfs*8 Frameshift 3/5 - 1
19-51323656-C-T c.250G>A p.E84K Missense 3/5 - 1
19-51323660-G-A c.246C>T p.D82= Synonymous 3/5 - 2
19-51323662-C-T c.244G>A p.D82N Missense 3/5 - 1
19-51323663-A-C c.243T>G p.F81L Missense 3/5 - 1
19-51323663-A-T c.243T>A p.F81L Missense 3/5 - 1
19-51323665-A-G c.241T>C p.F81L Missense 3/5 - 1
19-51323674-G-T c.232C>A p.H78N Missense 3/5 - 1
19-51323675-G-A c.231C>T p.R77= Synonymous 3/5 - 1
19-51323675-G-C c.231C>G p.R77= Synonymous 3/5 - 1
19-51323675-G-T c.231C>A p.R77= Synonymous 3/5 - 1
19-51323676-C-T c.230G>A p.R77H Missense 3/5 - 17
19-51323680-C-G c.226G>C p.G76R Missense 3/5 - 1
19-51323680-C-T c.226G>A p.G76S Missense 3/5 - 1
19-51323681-CAG-GAT c.223_225delinsATC p.L75I Missense 3/5 - 1
19-51323683-G-T c.223C>A p.L75M Missense 3/5 - 1
19-51323686-A-G c.220T>C p.W74R Missense 3/5 - 2
19-51323686-A-T c.220T>A p.W74R Missense 3/5 - 1
19-51323689-G-T c.217C>A p.L73I Missense 3/5 - 1
19-51323691-T-G c.215A>C p.Q72P Missense 3/5 - 1
19-51323692-G-A c.214C>T p.Q72* Nonsense 3/5 - 2
19-51323692-G-T c.214C>A p.Q72K Missense 3/5 - 1
19-51323733-C-A c.207-34G>T - IntronicSNV - 2/4 1
19-51323733-C-G c.207-34G>C - IntronicSNV - 2/4 1
19-51323733-C-T c.207-34G>A - IntronicSNV - 2/4 1
19-51323746-A-G c.207-47T>C - IntronicSNV - 2/4 1
19-51323766-A-G c.207-67T>C - IntronicSNV - 2/4 2
19-51323766-A-T c.207-67T>A - IntronicSNV - 2/4 2
19-51323767-T-G c.207-68A>C - IntronicSNV - 2/4 1
19-51323881-T-C c.207-182A>G - IntronicSNV - 2/4 4
19-51323881-T-G c.207-182A>C - IntronicSNV - 2/4 4
19-51323947-A-G c.207-248T>C - IntronicSNV - 2/4 1
19-51323947-A-T c.207-248T>A - IntronicSNV - 2/4 1
19-51324068-C-G c.207-369G>C - IntronicSNV - 2/4 1
19-51324068-C-T c.207-369G>A - IntronicSNV - 2/4 1
19-51324490-GC-G c.206+477del - IntronicDeletion - 2/4 1
19-51324910-C-A c.206+58G>T - IntronicSNV - 2/4 1
19-51324926-C-T c.206+42G>A - IntronicSNV - 2/4 1
19-51324969-C-T c.205G>A p.D69N Missense 2/5 - 3
19-51324970-G-A c.204C>T p.S68= Synonymous 2/5 - 2
19-51324971-C-T c.203G>A p.S68N Missense 2/5 - 2
19-51324972-T-C c.202A>G p.S68G Missense 2/5 - 1
19-51324977-C-G c.197G>C p.C66S Missense 2/5 - 1
19-51324978-A-T c.196T>A p.C66S Missense 2/5 - 1
19-51324987-C-A c.187G>T p.A63S Missense 2/5 - 1
19-51324989-G-A c.185C>T p.T62I Missense 2/5 - 1
19-51324991-G-T c.183C>A p.L61= Synonymous 2/5 - 3
19-51324993-G-A c.181C>T p.L61F Missense 2/5 - 1
19-51325000-C-T c.174G>A p.Q58= Synonymous 2/5 - 1
19-51325003-G-C c.171C>G p.R57= Synonymous 2/5 - 2
19-51325004-C-G c.170G>C p.R57P Missense 2/5 - 1
19-51325004-C-T c.170G>A p.R57H Missense 2/5 - 3
19-51325005-G-T c.169C>A p.R57S Missense 2/5 - 2
19-51325008-G-A c.166C>T p.H56Y Missense 2/5 - 1
19-51325010-A-G c.164T>C p.V55A Missense 2/5 - 1
19-51325012-C-A c.162G>T p.L54= Synonymous 2/5 - 1
19-51325012-C-G c.162G>C p.L54= Synonymous 2/5 - 1
19-51325012-C-T c.162G>A p.L54= Synonymous 2/5 - 1
19-51325014-G-A c.160C>T p.L54= Synonymous 2/5 - 1
19-51325015-G-A c.159C>T p.I53= Synonymous 2/5 - 1
19-51325015-G-T c.159C>A p.I53= Synonymous 2/5 - 1
19-51325021-C-A c.153G>T p.G51= Synonymous 2/5 - 1
19-51325022-C-T c.152G>A p.G51E Missense 2/5 - 1
19-51325023-C-A c.151G>T p.G51W Missense 2/5 - 1
19-51325024-A-G c.150T>C p.C50= Synonymous 2/5 - 1
19-51325025-C-A c.149G>T p.C50F Missense 2/5 - 2
19-51325025-C-T c.149G>A p.C50Y Missense 2/5 - 4
19-51325026-A-C c.148T>G p.C50G Missense 2/5 - 2
19-51325027-C-T c.147G>A p.Q49= Synonymous 2/5 - 3
19-51325029-G-A c.145C>T p.Q49* Nonsense 2/5 - 1
19-51325034-GT-TC c.139_140delinsGA p.T47D Missense 2/5 - 4
19-51325035-T-C c.139A>G p.T47A Missense 2/5 - 1
19-51325037-C-T c.137G>A p.S46N Missense 2/5 - 1
19-51325037-CT-GC c.136_137delinsGC p.S46A Missense 2/5 - 1
19-51325039-G-A c.135C>T p.F45= Synonymous 2/5 - 1
19-51325039-G-T c.135C>A p.F45L Missense 2/5 - 3
19-51325039-G-C c.135C>G p.F45L Missense 2/5 - 2
19-51325041-A-C c.133T>G p.F45V Missense 2/5 - 1
19-51325041-A-G c.133T>C p.F45L Missense 2/5 - 2
19-51325055-G-A c.119C>T p.A40V Missense 2/5 - 1
19-51325060-C-A c.114G>T p.W38C Missense 2/5 - 1
19-51325060-C-G c.114G>C p.W38C Missense 2/5 - 1
19-51325060-C-T c.114G>A p.W38* Nonsense 2/5 - 1
19-51325061-C-A c.113G>T p.W38L Missense 2/5 - 3
19-51325061-C-T c.113G>A p.W38* Nonsense 2/5 - 2
19-51325064-G-T c.110C>A p.P37H Missense 2/5 - 1
19-51325065-G-A c.109C>T p.P37S Missense 2/5 - 1
19-51325065-G-C c.109C>G p.P37A Missense 2/5 - 1
19-51325066-C-A c.108G>T p.Q36H Missense 2/5 - 1
19-51325067-T-G c.107A>C p.Q36P Missense 2/5 - 2
19-51325070-G-A c.104C>T p.S35F Missense 2/5 - 1
19-51325070-G-T c.104C>A p.S35Y Missense 2/5 - 1
19-51325074-G-A c.100C>T p.H34Y Missense 2/5 - 1
19-51325075-C-G c.99G>C p.Q33H Missense 2/5 - 1
19-51325075-C-T c.99G>A p.Q33= Synonymous 2/5 - 1
19-51325076-T-C c.98A>G p.Q33R Missense 2/5 - 9
19-51325083-A-T c.91T>A p.C31S Missense 2/5 - 1
19-51325085-T-TG c.88_89insC p.E30Afs*3 Frameshift 2/5 - 1
19-51325085-TC-T c.88del p.E30Sfs*74 Frameshift 2/5 - 2
19-51325092-C-A c.82G>T p.G28C Missense 2/5 - 1
19-51325094-C-G c.80G>C p.G27A Missense 2/5 - 1
19-51325095-C-A c.79G>T p.G27* Nonsense 2/5 - 1
19-51325100-A-G c.74T>C p.I25T Missense 2/5 - 1
19-51325103-C-T c.71G>A p.R24Q Missense 2/5 - 1
19-51325104-G-A c.70C>T p.R24W Missense 2/5 - 2
19-51325105-G-A c.69C>T p.S23= Synonymous 2/5 - 1
19-51325105-G-C c.69C>G p.S23= Synonymous 2/5 - 1
19-51325105-G-T c.69C>A p.S23= Synonymous 2/5 - 2
19-51325106-G-T c.68C>A p.S23Y Missense 2/5 - 1
19-51325108-C-A c.66G>T p.Q22H Missense 2/5 - 1
19-51325108-C-G c.66G>C p.Q22H Missense 2/5 - 1
19-51325111-A-T c.63T>A p.I21= Synonymous 2/5 - 1
19-51325112-A-G c.62T>C p.I21T Missense 2/5 - 1
19-51325113-T-TC c.60dup p.I21Dfs*12 Frameshift 2/5 - 1
19-51325114-C-A c.60G>T p.P20= Synonymous 2/5 - 1
19-51325114-C-G c.60G>C p.P20= Synonymous 2/5 - 1
19-51325114-C-T c.60G>A p.P20= Synonymous 2/5 - 2
19-51325116-G-C c.58C>G p.P20A Missense 2/5 - 1
19-51325117-G-A c.57C>T p.P19= Synonymous 2/5 - 1
19-51325118-G-A c.56C>T p.P19L Missense 2/5 - 1
19-51325121-G-A c.53C>T p.A18V Missense 2/5 - 4
19-51325123-AGC-TTA c.49_51delinsTAA p.A17* Nonsense 2/5 - 3
19-51325363-A-T c.47-236T>A - IntronicSNV - 1/4 1
19-51325485-G-A c.47-358C>T - IntronicSNV - 1/4 1
19-51326106-C-T c.46+853G>A - IntronicSNV - 1/4 4
19-51326186-G-C c.46+773C>G - IntronicSNV - 1/4 3
19-51326358-C-A c.46+601G>T - IntronicSNV - 1/4 1
19-51326950-C-T c.46+9G>A - IntronicSNV - 1/4 2
19-51326958-C-A c.46+1G>T - IntronicSNV - 1/4 1
19-51326959-C-T c.46G>A p.G16S Missense 1/5 - 4
19-51326961-G-GC c.43_44insG p.T15Sfs*18 Frameshift 1/5 - 1
19-51326962-T-C c.43A>G p.T15A Missense 1/5 - 1
19-51326963-CCC-GCT c.40_42delinsAGC p.G14S Missense 1/5 - 2
19-51326963-CC-GT c.41_42delinsAC p.G14D Missense 1/5 - 1
19-51326965-C-T c.40G>A p.G14R Missense 1/5 - 2
19-51326967-C-T c.38G>A p.G13E Missense 1/5 - 1
19-51326962-TC-T c.42del p.T15Lfs*89 Frameshift 1/5 - 1
19-51326962-T-TC c.42dup p.T15Dfs*18 Frameshift 1/5 - 2
19-51326969-CAG-AAA c.34_36delinsTTT p.L12F Missense 1/5 - 1
19-51326972-G-A c.33C>T p.S11= Synonymous 1/5 - 1
19-51326973-GA-TC c.31_32inv p.S11D Missense 1/5 - 2
19-51326974-A-C c.31T>G p.S11A Missense 1/5 - 2
19-51326976-AG-A c.28del p.L10Cfs*94 Frameshift 1/5 - 1
19-51326980-C-T c.25G>A p.A9T Missense 1/5 - 1
19-51326981-G-A c.24C>T p.L8= Synonymous 1/5 - 1
19-51326984-G-T c.21C>A p.C7* Nonsense 1/5 - 2
19-51326992-C-A c.13G>T p.V5F Missense 1/5 - 3
19-51326993-C-G c.12G>C p.L4= Synonymous 1/5 - 1
19-51326995-G-A c.10C>T p.L4= Synonymous 1/5 - 1
19-51326996-G-A c.9C>T p.F3= Synonymous 1/5 - 1
19-51326997-A-T c.8T>A p.F3Y Missense 1/5 - 1
19-51327001-A-G c.4T>C p.W2R Missense 1/5 - 1
19-51327004-T-A c.1A>T p.M1? Missense 1/5 - 1
19-51327004-T-C c.1A>G p.M1? Missense 1/5 - 1
19-51327004-T-G c.1A>C p.M1? Missense 1/5 - 1