RPS2

RPS2 ribosomal protein S2

Annotation transcript: NM_002952.4

427 unique variant annotations were identified in 320 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
16-2012099-C-CT c.881dup p.*294* CdsStopInsertion 7/7 - 1
16-2012116-C-A c.865G>T p.A289S Missense 7/7 - 1
16-2012118-G-T c.863C>A p.P288Q Missense 7/7 - 1
16-2012119-G-A c.862C>T p.P288S Missense 7/7 - 4
16-2012120-A-G c.861T>C p.A287= Synonymous 7/7 - 1
16-2012127-G-A c.854C>T p.T285I Missense 7/7 - 1
16-2012130-C-T c.851G>A p.R284Q Missense 7/7 - 4
16-2012131-G-A c.850C>T p.R284W Missense 7/7 - 1
16-2012134-G-A c.847C>T p.Q283* Nonsense 7/7 - 2
16-2012135-CAC-GAT c.844_846delinsATC p.V282I Missense 7/7 - 1
16-2012137-C-T c.844G>A p.V282M Missense 7/7 - 5
16-2012138-G-A c.843C>T p.S281= Synonymous 7/7 - 2
16-2012138-G-C c.843C>G p.S281= Synonymous 7/7 - 2
16-2012138-GGA-CTC c.841_843delinsGAG p.S281E Missense 7/7 - 1
16-2012138-G-T c.843C>A p.S281= Synonymous 7/7 - 2
16-2012139-G-C c.842C>G p.S281C Missense 7/7 - 1
16-2012140-A-C c.841T>G p.S281A Missense 7/7 - 1
16-2012147-GGT-CTC c.832_834delinsGAG p.T278E Missense 7/7 - 1
16-2012148-G-C c.833C>G p.T278S Missense 7/7 - 1
16-2012149-T-C c.832A>G p.T278A Missense 7/7 - 2
16-2012152-G-T c.829C>A p.H277N Missense 7/7 - 1
16-2012155-T-C c.826A>G p.T276A Missense 7/7 - 1
16-2012156-C-A c.825G>T p.K275N Missense 7/7 - 2
16-2012156-C-G c.825G>C p.K275N Missense 7/7 - 3
16-2012157-T-C c.824A>G p.K275R Missense 7/7 - 2
16-2012158-T-C c.823A>G p.K275E Missense 7/7 - 1
16-2012159-G-A c.822C>T p.V274= Synonymous 7/7 - 1
16-2012159-G-C c.822C>G p.V274= Synonymous 7/7 - 2
16-2012159-G-T c.822C>A p.V274= Synonymous 7/7 - 1
16-2012162-G-A c.819C>T p.L273= Synonymous 7/7 - 1
16-2012166-TG-AA c.814_815delinsTT p.H272F Missense 7/7 - 1
16-2012167-G-T c.814C>A p.H272N Missense 7/7 - 1
16-2012171-CAG-C c.809_810del p.T270Rfs*35 Frameshift 7/7 - 1
16-2012172-G-A c.809C>T p.T270I Missense 7/7 - 1
16-2012182-G-A c.799C>T p.Q267* Nonsense 7/7 - 4
16-2012182-G-C c.799C>G p.Q267E Missense 7/7 - 2
16-2012187-G-C c.794C>G p.P265R Missense 7/7 - 2
16-2012190-G-A c.791C>T p.S264F Missense 7/7 - 1
16-2012190-G-T c.791C>A p.S264Y Missense 7/7 - 1
16-2012198-G-C c.783C>G p.F261L Missense 7/7 - 1
16-2012198-G-T c.783C>A p.F261L Missense 7/7 - 1
16-2012200-A-G c.781T>C p.F261L Missense 7/7 - 1
16-2012208-T-C c.773A>G p.E258G Missense 7/7 - 1
16-2012209-C-A c.772G>T p.E258* Nonsense 7/7 - 1
16-2012213-C-T c.768G>A p.W256* Nonsense 7/7 - 1
16-2012214-C-T c.767G>A p.W256* Nonsense 7/7 - 1
16-2012216-G-A c.765C>T p.L255= Synonymous 7/7 - 1
16-2012222-G-A c.759C>T p.P253= Synonymous 7/7 - 3
16-2012227-T-C c.754A>G p.T252A Missense 7/7 - 1
16-2012228-C-G c.753G>C p.L251= Synonymous 7/7 - 1
16-2012232-T-A c.749A>T p.Y250F Missense 7/7 - 2
16-2012235-C-A c.746G>T p.S249I Missense 7/7 - 1
16-2012237-G-T c.744C>A p.Y248* Nonsense 7/7 - 1
16-2012240-G-A c.741C>T p.T247= Synonymous 7/7 - 1
16-2012247-GA-AG c.733_734delinsCT p.S245L Missense 7/7 - 1
16-2012247-G-C c.734C>G p.S245C Missense 7/7 - 1
16-2012247-G-T c.734C>A p.S245Y Missense 7/7 - 1
16-2012249-A-G c.732T>C p.I244= Synonymous 7/7 - 1
16-2012250-A-G c.731T>C p.I244T Missense 7/7 - 1
16-2012253-G-A c.728C>T p.A243V Missense 7/7 - 5
16-2012254-C-G c.727G>C p.A243P Missense 7/7 - 1
16-2012257-C-T c.724G>A p.D242N Missense 7/7 - 2
16-2012263-T-A c.718A>T p.T240S Missense 7/7 - 1
16-2012264-G-A c.717C>T p.A239= Synonymous 7/7 - 1
16-2012264-G-C c.717C>G p.A239= Synonymous 7/7 - 1
16-2012264-G-T c.717C>A p.A239= Synonymous 7/7 - 1
16-2012266-C-T c.715G>A p.A239T Missense 7/7 - 1
16-2012267-C-A c.714G>T p.K238N Missense 7/7 - 1
16-2012267-C-G c.714G>C p.K238N Missense 7/7 - 2
16-2012267-C-T c.714G>A p.K238= Synonymous 7/7 - 1
16-2012268-T-G c.713A>C p.K238T Missense 7/7 - 1
16-2012342-G-A c.710-71C>T - IntronicSNV - 6/6 1
16-2012373-C-G c.710-102G>C - IntronicSNV - 6/6 1
16-2012373-C-T c.710-102G>A - IntronicSNV - 6/6 1
16-2012390-A-G c.709+108T>C - IntronicSNV - 6/6 1
16-2012453-C-T c.709+45G>A - IntronicSNV - 6/6 2
16-2012499-G-A c.708C>T p.F236= Synonymous 6/7 - 3
16-2012499-G-C c.708C>G p.F236L Missense 6/7 - 1
16-2012499-G-T c.708C>A p.F236L Missense 6/7 - 1
16-2012501-A-G c.706T>C p.F236L Missense 6/7 - 1
16-2012505-G-A c.702C>T p.G234= Synonymous 6/7 - 1
16-2012509-A-G c.698T>C p.L233P Missense 6/7 - 1
16-2012512-G-A c.695C>T p.T232I Missense 6/7 - 1
16-2012515-G-A c.692C>T p.A231V Missense 6/7 - 2
16-2012517-AG-CA c.689_690delinsTG p.T230M Missense 6/7 - 1
16-2012518-G-C c.689C>G p.T230S Missense 6/7 - 1
16-2012521-C-CT c.685_686insA p.C229* Nonsense 6/7 - 1
16-2012523-G-A c.684C>T p.G228= Synonymous 6/7 - 3
16-2012523-G-C c.684C>G p.G228= Synonymous 6/7 - 2
16-2012523-G-T c.684C>A p.G228= Synonymous 6/7 - 2
16-2012526-CC-AT c.680_681delinsAT p.R227H Missense 6/7 - 1
16-2012526-CCG-ACA c.679_681delinsTGT p.R227C Missense 6/7 - 1
16-2012523-G-GC c.683dup p.C229Lfs*14 Frameshift 6/7 - 1
16-2012527-C-T c.680G>A p.R227Q Missense 6/7 - 2
16-2012528-G-A c.679C>T p.R227W Missense 6/7 - 1
16-2012530-GC-TA c.676_677delinsTA p.A226Y Missense 6/7 - 2
16-2012533-G-A c.674C>T p.S225L Missense 6/7 - 2
16-2012534-A-G c.673T>C p.S225P Missense 6/7 - 2
16-2012534-A-T c.673T>A p.S225T Missense 6/7 - 1
16-2012538-GTA-CTC c.667_669delinsGAG p.Y223E Missense 6/7 - 1
16-2012539-T-A c.668A>T p.Y223F Missense 6/7 - 1
16-2012539-T-C c.668A>G p.Y223C Missense 6/7 - 1
16-2012541-G-C c.666C>G p.C222W Missense 6/7 - 1
16-2012542-C-G c.665G>C p.C222S Missense 6/7 - 1
16-2012543-A-T c.664T>A p.C222S Missense 6/7 - 1
16-2012549-C-T c.658G>A p.D220N Missense 6/7 - 1
16-2012550-G-A c.657C>T p.I219= Synonymous 6/7 - 4
16-2012550-G-T c.657C>A p.I219= Synonymous 6/7 - 1
16-2012553-A-G c.654T>C p.G218= Synonymous 6/7 - 1
16-2012555-C-G c.652G>C p.G218R Missense 6/7 - 1
16-2012558-C-T c.649G>A p.A217T Missense 6/7 - 1
16-2012559-C-G c.648G>C p.M216I Missense 6/7 - 1
16-2012571-C-T c.636G>A p.K212= Synonymous 6/7 - 3
16-2012574-C-T c.633G>A p.K211= Synonymous 6/7 - 1
16-2012577-A-C c.630T>G p.P210= Synonymous 6/7 - 1
16-2012577-A-G c.630T>C p.P210= Synonymous 6/7 - 1
16-2012577-A-T c.630T>A p.P210= Synonymous 6/7 - 1
16-2012578-GG-TC c.628_629delinsGA p.P210D Missense 6/7 - 1
16-2012579-G-C c.628C>G p.P210A Missense 6/7 - 1
16-2012581-A-G c.626T>C p.V209A UnclassifiedSNV 6/7 - 3
16-2012583-A-C c.624T>G p.P208= Synonymous 6/7 - 1
16-2012583-A-G c.624T>C p.P208= Synonymous 6/7 - 1
16-2012583-A-T c.624T>A p.P208= Synonymous 6/7 - 1
16-2012584-G-A c.623C>T p.P208L Missense 6/7 - 1
16-2012587-G-A c.620C>T p.A207V Missense 6/7 - 2
16-2012589-G-A c.618C>T p.S206= Synonymous 6/7 - 1
16-2012592-G-A c.615C>T p.V205= Synonymous 6/7 - 1
16-2012595-G-A c.612C>T p.I204= Synonymous 6/7 - 1
16-2012596-A-G c.611T>C p.I204T Missense 6/7 - 1
16-2012597-T-C c.610A>G p.I204V Missense 6/7 - 1
16-2012598-G-A c.609C>T p.G203= Synonymous 6/7 - 3
16-2012599-C-T c.608G>A p.G203D Missense 6/7 - 2
16-2012607-C-T c.600G>A p.R200= Synonymous 6/7 - 1
16-2012609-T-C c.598A>G p.R200G Missense 6/7 - 3
16-2012611-G-A c.596C>T p.P199L Missense 6/7 - 1
16-2012613-T-A c.594A>T p.A198= Synonymous 6/7 - 1
16-2012613-T-C c.594A>G p.A198= Synonymous 6/7 - 1
16-2012613-T-G c.594A>C p.A198= Synonymous 6/7 - 1
16-2012614-G-A c.593C>T p.A198V Missense 6/7 - 1
16-2012636-C-G c.571G>C p.V191L Missense 6/7 - 1
16-2012639-A-G c.568T>C p.S190P Missense 6/7 - 1
16-2012642-C-T c.565G>A p.G189S Missense 6/7 - 1
16-2012643-G-A c.564C>T p.C188= Synonymous 6/7 - 1
16-2012644-CA-GT c.562_563delinsAC p.C188T Missense 6/7 - 1
16-2012646-G-A c.561C>T p.R187= Synonymous 6/7 - 1
16-2012646-G-C c.561C>G p.R187= Synonymous 6/7 - 1
16-2012646-G-T c.561C>A p.R187= Synonymous 6/7 - 1
16-2012648-G-A c.559C>T p.R187C Missense 6/7 - 2
16-2012649-G-A c.558C>T p.G186= Synonymous 6/7 - 2
16-2012660-G-A c.550-3C>T - IntronicSNV - 5/6 1
16-2012660-G-T c.550-3C>A - IntronicSNV - 5/6 1
16-2012676-A-G c.550-19T>C - IntronicSNV - 5/6 1
16-2012677-G-A c.550-20C>T - IntronicSNV - 5/6 1
16-2012683-G-A c.550-26C>T - IntronicSNV - 5/6 1
16-2012690-C-T c.550-33G>A - IntronicSNV - 5/6 1
16-2012691-G-A c.550-34C>T - IntronicSNV - 5/6 1
16-2012695-G-A c.550-38C>T - IntronicSNV - 5/6 1
16-2012695-G-C c.550-38C>G - IntronicSNV - 5/6 1
16-2012708-G-A c.549+29C>T - IntronicSNV - 5/6 1
16-2012708-G-C c.549+29C>G - IntronicSNV - 5/6 1
16-2012708-G-T c.549+29C>A - IntronicSNV - 5/6 1
16-2012711-A-G c.549+26T>C - IntronicSNV - 5/6 1
16-2012731-G-C c.549+6C>G - IntronicSNV - 5/6 1
16-2012744-G-A c.542C>T p.P181L Missense 5/7 - 1
16-2012752-G-A c.534C>T p.H178= Synonymous 5/7 - 1
16-2012755-G-A c.531C>T p.P177= Synonymous 5/7 - 2
16-2012755-G-C c.531C>G p.P177= Synonymous 5/7 - 1
16-2012755-G-T c.531C>A p.P177= Synonymous 5/7 - 1
16-2012756-G-A c.530C>T p.P177L Missense 5/7 - 1
16-2012758-C-T c.528G>A p.K176= Synonymous 5/7 - 1
16-2012759-TT-GC c.526_527delinsGC p.K176A Missense 5/7 - 1
16-2012760-T-C c.526A>G p.K176E Missense 5/7 - 1
16-2012762-C-G c.524G>C p.G175A Missense 5/7 - 1
16-2012763-C-T c.523G>A p.G175S Missense 5/7 - 1
16-2012774-C-T c.512G>A p.G171E Missense 5/7 - 1
16-2012776-C-T c.510G>A p.W170* Nonsense 5/7 - 1
16-2012777-C-T c.509G>A p.W170* Nonsense 5/7 - 1
16-2012785-TCT-ATG c.499_501delinsCAT p.R167H Missense 5/7 - 5
16-2012786-C-T c.500G>A p.R167K Missense 5/7 - 2
16-2012790-G-A c.496C>T p.R166C Missense 5/7 - 2
16-2012794-G-A c.492C>T p.P164= Synonymous 5/7 - 2
16-2012804-G-T c.482C>A p.S161Y Missense 5/7 - 2
16-2012806-G-A c.480C>T p.L160= Synonymous 5/7 - 1
16-2012817-G-A c.469C>T p.L157= Synonymous 5/7 - 2
16-2012818-G-A c.468C>T p.I156= Synonymous 5/7 - 2
16-2012818-G-T c.468C>A p.I156= Synonymous 5/7 - 1
16-2012820-T-C c.466A>G p.I156V Missense 5/7 - 1
16-2012821-G-A c.465C>T p.I155= Synonymous 5/7 - 1
16-2012821-G-T c.465C>A p.I155= Synonymous 5/7 - 1
16-2012823-T-A c.463A>T p.I155F Missense 5/7 - 1
16-2012834-A-G c.452T>C p.I151T Missense 5/7 - 2
16-2012838-C-T c.448G>A p.A150T Missense 5/7 - 2
16-2012843-G-C c.443C>G p.A148G Missense 5/7 - 1
16-2012861-T-C c.425A>G p.K142R Missense 5/7 - 1
16-2012861-T-G c.425A>C p.K142T Missense 5/7 - 1
16-2012867-C-A c.419G>T p.G140V Missense 5/7 - 2
16-2012869-C-A c.417G>T p.L139= Synonymous 5/7 - 1
16-2012870-A-C c.416T>G p.L139R Missense 5/7 - 6
16-2012873-C-G c.413G>C p.G138A Missense 5/7 - 3
16-2012874-C-G c.412G>C p.G138R Missense 5/7 - 1
16-2012874-C-T c.412G>A p.G138S Missense 5/7 - 2
16-2012875-G-A c.411C>T p.V137= Synonymous 5/7 - 1
16-2012873-CCGA-C c.410_412del p.V137del InFrameDeletion 5/7 - 1
16-2012877-C-T c.409G>A p.V137I Missense 5/7 - 1
16-2012878-G-A c.408C>T p.H136= Synonymous 5/7 - 1
16-2012880-G-A c.406C>T p.H136Y Missense 5/7 - 1
16-2012881-G-A c.405C>T p.G135= Synonymous 5/7 - 2
16-2012887-G-C c.399C>G p.Y133* Nonsense 5/7 - 1
16-2012890-G-C c.396C>G p.D132E Missense 5/7 - 1
16-2012890-G-T c.396C>A p.D132E Missense 5/7 - 1
16-2012891-T-C c.395A>G p.D132G Missense 5/7 - 1
16-2012894-CC-GT c.391_392delinsAC p.G131T Missense 5/7 - 1
16-2012895-C-T c.391G>A p.G131R Missense 5/7 - 1
16-2012896-G-A c.390C>T p.I130= Synonymous 5/7 - 1
16-2012896-G-T c.390C>A p.I130= Synonymous 5/7 - 1
16-2012903-A-G c.383T>C p.V128A Missense 5/7 - 1
16-2012905-A-G c.381T>C p.F127= Synonymous 5/7 - 1
16-2012906-A-T c.380T>A p.F127Y Missense 5/7 - 4
16-2013017-A-G c.376-107T>C - IntronicSNV - 4/6 1
16-2013029-G-C c.376-119C>G - IntronicSNV - 4/6 1
16-2013102-G-C c.375+48C>G - IntronicSNV - 4/6 1
16-2013151-TT-GC c.373_374delinsGC p.K125A Missense 4/7 - 1
16-2013153-G-C c.372C>G p.F124L Missense 4/7 - 1
16-2013153-G-T c.372C>A p.F124L Missense 4/7 - 1
16-2013155-A-G c.370T>C p.F124L Missense 4/7 - 1
16-2013157-C-T c.368G>A p.R123K Missense 4/7 - 1
16-2013158-T-C c.367A>G p.R123G Missense 4/7 - 2
16-2013163-C-T c.362G>A p.R121H Missense 4/7 - 1
16-2013164-G-A c.361C>T p.R121C Missense 4/7 - 1
16-2013168-G-A c.357C>T p.G119= Synonymous 4/7 - 1
16-2013168-G-C c.357C>G p.G119= Synonymous 4/7 - 1
16-2013168-G-T c.357C>A p.G119= Synonymous 4/7 - 1
16-2013169-C-A c.356G>T p.G119V Missense 4/7 - 1
16-2013170-C-A c.355G>T p.G119C Missense 4/7 - 1
16-2013172-G-A c.353C>T p.A118V Missense 4/7 - 1
16-2013173-C-T c.352G>A p.A118T Missense 4/7 - 1
16-2013174-A-G c.351T>C p.R117= Synonymous 4/7 - 1
16-2013175-CG-GC c.349_350delinsGC p.R117A Missense 4/7 - 1
16-2013176-G-T c.349C>A p.R117S Missense 4/7 - 1
16-2013177-GG-CC c.347_348inv p.T116R Missense 4/7 - 1
16-2013180-C-A c.345G>T p.Q115H Missense 4/7 - 1
16-2013180-C-G c.345G>C p.Q115H Missense 4/7 - 1
16-2013184-T-C c.341A>G p.K114R Missense 4/7 - 1
16-2013186-C-CT c.338dup p.K114Efs*29 Frameshift 4/7 - 1
16-2013190-A-G c.335T>C p.V112A Missense 4/7 - 1
16-2013191-C-G c.334G>C p.V112L Missense 4/7 - 1
16-2013194-G-A c.331C>T p.P111S Missense 4/7 - 3
16-2013198-A-G c.327T>C p.I109= Synonymous 4/7 - 6
16-2013198-A-T c.327T>A p.I109= Synonymous 4/7 - 3
16-2013200-T-A c.325A>T p.I109F Missense 4/7 - 1
16-2013203-T-C c.322A>G p.K108E Missense 4/7 - 1
16-2013207-A-C c.318T>G p.V106= Synonymous 4/7 - 1
16-2013207-A-G c.318T>C p.V106= Synonymous 4/7 - 1
16-2013207-A-T c.318T>A p.V106= Synonymous 4/7 - 1
16-2013204-CA-C c.320del p.L107* Frameshift 4/7 - 1
16-2013210-C-T c.315G>A p.E105= Synonymous 4/7 - 2
16-2013211-T-A c.314A>T p.E105V Missense 4/7 - 1
16-2013221-G-A c.304C>T p.L102F Missense 4/7 - 1
16-2013223-GA-CC c.301_302delinsGG p.S101G Missense 4/7 - 2
16-2013223-GA-TC c.301_302inv p.S101D Missense 4/7 - 1
16-2013223-GA-TT c.301_302delinsAA p.S101N Missense 4/7 - 1
16-2013225-G-A c.300C>T p.A100= Synonymous 4/7 - 1
16-2013225-G-C c.300C>G p.A100= Synonymous 4/7 - 1
16-2013225-G-T c.300C>A p.A100= Synonymous 4/7 - 1
16-2013227-C-G c.298G>C p.A100P Missense 4/7 - 1
16-2013227-C-T c.298G>A p.A100T Missense 4/7 - 1
16-2013228-CCC-GCT c.295_297delinsAGC p.G99S Missense 4/7 - 1
16-2013231-C-A c.294G>T p.L98= Synonymous 4/7 - 1
16-2013231-C-G c.294G>C p.L98= Synonymous 4/7 - 1
16-2013231-C-T c.294G>A p.L98= Synonymous 4/7 - 1
16-2013233-G-A c.292C>T p.L98= Synonymous 4/7 - 3
16-2013234-G-A c.291C>T p.F97= Synonymous 4/7 - 2
16-2013238-A-C c.287T>G p.F96C Missense 4/7 - 1
16-2013248-T-C c.277A>G p.I93V Missense 4/7 - 1
16-2013248-T-G c.277A>C p.I93L Missense 4/7 - 1
16-2013251-C-G c.274G>C p.E92Q Missense 4/7 - 1
16-2013251-C-T c.274G>A p.E92K Missense 4/7 - 1
16-2013252-T-A c.273A>T p.S91= Synonymous 4/7 - 1
16-2013252-T-C c.273A>G p.S91= Synonymous 4/7 - 2
16-2013252-T-G c.273A>C p.S91= Synonymous 4/7 - 1
16-2013256-T-C c.269A>G p.E90G Missense 4/7 - 1
16-2013257-C-T c.268G>A p.E90K Missense 4/7 - 1
16-2013314-T-A c.268-57A>T - IntronicSNV - 3/6 4
16-2013314-T-C c.268-57A>G - IntronicSNV - 3/6 4
16-2013715-C-A c.268-458G>T - IntronicSNV - 3/6 1
16-2013715-C-G c.268-458G>C - IntronicSNV - 3/6 1
16-2013756-T-C c.268-499A>G - IntronicSNV - 3/6 1
16-2013757-C-A c.268-500G>T - IntronicSNV - 3/6 1
16-2013757-C-T c.268-500G>A - IntronicSNV - 3/6 1
16-2013852-G-A c.267+425C>T - IntronicSNV - 3/6 1
16-2014031-C-A c.267+246G>T - IntronicSNV - 3/6 5
16-2014031-C-G c.267+246G>C - IntronicSNV - 3/6 6
16-2014031-C-T c.267+246G>A - IntronicSNV - 3/6 5
16-2014110-A-C c.267+167T>G - IntronicSNV - 3/6 1
16-2014110-A-G c.267+167T>C - IntronicSNV - 3/6 1
16-2014214-C-G c.267+63G>C - IntronicSNV - 3/6 1
16-2014271-G-T c.267+6C>A - IntronicSNV - 3/6 1
16-2014276-C-G c.267+1G>C - IntronicSNV - 3/6 1
16-2014281-A-G c.263T>C p.I88T Missense 3/7 - 1
16-2014283-A-C c.261T>G p.P87= Synonymous 3/7 - 19
16-2014283-A-G c.261T>C p.P87= Synonymous 3/7 - 31
16-2014283-A-T c.261T>A p.P87= Synonymous 3/7 - 19
16-2014285-G-A c.259C>T p.P87S Missense 3/7 - 4
16-2014288-GGGA-G c.253_255del p.S85del InFrameDeletion 3/7 - 1
16-2014290-G-A c.254C>T p.S85F Missense 3/7 - 1
16-2014292-G-C c.252C>G p.F84L Missense 3/7 - 4
16-2014292-G-T c.252C>A p.F84L Missense 3/7 - 5
16-2014294-A-G c.250T>C p.F84L Missense 3/7 - 4
16-2014301-G-A c.243C>T p.I81= Synonymous 3/7 - 2
16-2014301-G-T c.243C>A p.I81= Synonymous 3/7 - 1
16-2014306-C-CA c.237_238insT p.E80* Nonsense 3/7 - 1
16-2014306-C-T c.238G>A p.E80K Missense 3/7 - 1
16-2014309-C-T c.235G>A p.E79K Missense 3/7 - 1
16-2014311-A-T c.233T>A p.L78Q Missense 3/7 - 1
16-2014313-G-A c.231C>T p.S77= Synonymous 3/7 - 1
16-2014319-G-C c.225C>G p.I75M Missense 3/7 - 2
16-2014320-A-T c.224T>A p.I75N Missense 3/7 - 1
16-2014322-C-T c.222G>A p.K74= Synonymous 3/7 - 1
16-2014323-T-A c.221A>T p.K74M Missense 3/7 - 1
16-2014326-A-G c.218T>C p.M73T Missense 3/7 - 1
16-2014327-T-A c.217A>T p.M73L Missense 3/7 - 1
16-2014327-T-G c.217A>C p.M73L Missense 3/7 - 1
16-2014332-T-C c.212A>G p.K71R Missense 3/7 - 1
16-2014338-AA-TG c.205_206delinsCA p.L69Q Missense 3/7 - 1
16-2014342-G-A c.202C>T p.R68C Missense 3/7 - 1
16-2014347-A-T c.197T>A p.L66* Nonsense 3/7 - 1
16-2014349-C-G c.195G>C p.K65N Missense 3/7 - 1
16-2014351-T-C c.193A>G p.K65E Missense 3/7 - 1
16-2014353-G-A c.191C>T p.T64I Missense 3/7 - 1
16-2014357-C-G c.187G>C p.V63L Missense 3/7 - 1
16-2014357-C-T c.187G>A p.V63I Missense 3/7 - 1
16-2014358-G-C c.186C>G p.P62= Synonymous 3/7 - 1
16-2014360-G-A c.184C>T p.P62S Missense 3/7 - 1
16-2014361-C-T c.183G>A p.M61I Missense 3/7 - 2
16-2014363-T-TC c.180dup p.M61Dfs*29 Frameshift 3/7 - 1
16-2014366-A-C c.178T>G p.W60G Missense 3/7 - 1
16-2014424-C-A c.177+26G>T - IntronicSNV - 2/6 7
16-2014424-C-G c.177+26G>C - IntronicSNV - 2/6 9
16-2014424-C-T c.177+26G>A - IntronicSNV - 2/6 7
16-2014441-G-C c.177+9C>G - IntronicSNV - 2/6 1
16-2014442-ATACC-A c.177+4_177+7del - IntronicDeletion 2/7 2/6 1
16-2014451-T-C c.176A>G p.E59G Missense 2/7 - 1
16-2014452-C-T c.175G>A p.E59K Missense 2/7 - 1
16-2014453-C-A c.174G>T p.K58N Missense 2/7 - 1
16-2014454-T-C c.173A>G p.K58R Missense 2/7 - 2
16-2014454-TT-GC c.172_173delinsGC p.K58A Missense 2/7 - 1
16-2014456-ATC-CTT c.169_171delinsAAG p.D57K Missense 2/7 - 1
16-2014458-C-T c.169G>A p.D57N Missense 2/7 - 2
16-2014461-C-T c.166G>A p.E56K Missense 2/7 - 2
16-2014464-C-T c.163G>A p.A55T Missense 2/7 - 2
16-2014465-C-T c.162G>A p.K54= Synonymous 2/7 - 1
16-2014466-T-C c.161A>G p.K54R Missense 2/7 - 1
16-2014469-C-T c.158G>A p.G53D Missense 2/7 - 2
16-2014472-C-T c.155G>A p.G52E Missense 2/7 - 2
16-2014473-C-G c.154G>C p.G52R Missense 2/7 - 1
16-2014475-C-T c.152G>A p.R51H Missense 2/7 - 1
16-2014476-G-C c.151C>G p.R51G Missense 2/7 - 1
16-2014478-G-A c.149C>T p.A50V Missense 2/7 - 1
16-2014478-G-C c.149C>G p.A50G Missense 2/7 - 1
16-2014478-G-T c.149C>A p.A50D Missense 2/7 - 1
16-2014479-C-T c.148G>A p.A50T Missense 2/7 - 2
16-2014480-TCCGCGGCCTCGGCCCCGGCCCCGTCCACGG-T c.117_146del p.R40_G49del InFrameDeletion 2/7 - 1
16-2014483-GCGGCCTCGGCCCCGGCCCCGTCCA-G c.120_143del p.R42_G49del InFrameDeletion 2/7 - 1
16-2014489-TCG-ACA c.136_138delinsTGT p.R46C Missense 2/7 - 1
16-2014490-C-G c.137G>C p.R46P Missense 2/7 - 1
16-2014491-G-A c.136C>T p.R46* Nonsense 2/7 - 1
16-2014493-C-T c.134G>A p.G45D Missense 2/7 - 1
16-2014492-G-GC c.134dup p.R46Pfs*13 Frameshift 2/7 - 1
16-2014498-GC-CT c.128_129delinsAG p.G43E Missense 2/7 - 1
16-2014492-GCCCCGGCCCCGTCCACGGCCGCGA-G c.111_134del p.R42_G49del InFrameDeletion 2/7 - 1
16-2014504-TC-GT c.122_123delinsAC p.G41D Missense 2/7 - 1
16-2014508-C-A c.119G>T p.R40L Missense 2/7 - 2
16-2014508-CG-AT c.118_119delinsAT p.R40I Missense 2/7 - 1
16-2014509-G-A c.118C>T p.R40C Missense 2/7 - 1
16-2014509-G-C c.118C>G p.R40G Missense 2/7 - 1
16-2014514-CG-TC c.112_113delinsGA p.R38D Missense 2/7 - 3
16-2014516-A-G c.111T>C p.G37= Synonymous 2/7 - 1
16-2014523-CC-GT c.103_104delinsAC p.G35T Missense 2/7 - 1
16-2014524-C-T c.103G>A p.G35S Missense 2/7 - 1
16-2014525-CCG-ACA c.100_102delinsTGT p.R34C Missense 2/7 - 1
16-2014528-G-A c.99C>T p.I33= Synonymous 2/7 - 7
16-2014528-G-T c.99C>A p.I33= Synonymous 2/7 - 2
16-2014531-GC-CT c.95_96delinsAG p.G32E Missense 2/7 - 1
16-2014532-C-G c.95G>C p.G32A Missense 2/7 - 1
16-2014535-CT-AA c.91_92delinsTT p.S31F Missense 2/7 - 1
16-2014538-C-T c.89G>A p.G30D Missense 2/7 - 1
16-2014540-CG-C c.87del p.F29Lfs*45 Frameshift 2/7 - 1
16-2014540-G-A c.87C>T p.F29= Synonymous 2/7 - 2
16-2014540-G-C c.87C>G p.F29L Missense 2/7 - 2
16-2014540-G-T c.87C>A p.F29L Missense 2/7 - 2
16-2014542-A-G c.85T>C p.F29L Missense 2/7 - 2
16-2014546-T-A c.81A>T p.G27= Synonymous 2/7 - 1
16-2014546-T-C c.81A>G p.G27= Synonymous 2/7 - 1
16-2014546-T-G c.81A>C p.G27= Synonymous 2/7 - 1
16-2014547-C-T c.80G>A p.G27E Missense 2/7 - 1
16-2014554-A-G c.73T>C p.F25L Missense 2/7 - 1
16-2014559-CC-GT c.67_68delinsAC p.G23T Missense 2/7 - 1
16-2014565-T-C c.62A>G p.N21S Missense 2/7 - 1
16-2014568-C-T c.59G>A p.G20E Missense 2/7 - 1
16-2014569-C-A c.58G>T p.G20W Missense 2/7 - 1
16-2014575-C-A c.52G>T p.G18W Missense 2/7 - 1
16-2014578-G-A c.49C>T p.P17S Missense 2/7 - 1
16-2014580-C-A c.47G>T p.G16V Missense 2/7 - 1
16-2014582-A-C c.45T>G p.G15= Synonymous 2/7 - 1
16-2014582-A-G c.45T>C p.G15= Synonymous 2/7 - 1
16-2014582-A-T c.45T>A p.G15= Synonymous 2/7 - 1
16-2014584-C-T c.43G>A p.G15S Missense 2/7 - 1
16-2014588-G-A c.39C>T p.G13= Synonymous 2/7 - 2
16-2014588-G-C c.39C>G p.G13= Synonymous 2/7 - 2
16-2014588-G-T c.39C>A p.G13= Synonymous 2/7 - 2
16-2014590-C-A c.37G>T p.G13C Missense 2/7 - 1
16-2014591-C-A c.36G>T p.G12= Synonymous 2/7 - 2
16-2014591-C-G c.36G>C p.G12= Synonymous 2/7 - 6
16-2014591-C-T c.36G>A p.G12= Synonymous 2/7 - 8
16-2014592-C-T c.35G>A p.G12E Missense 2/7 - 1
16-2014588-GC-G c.38del p.G13Afs*61 Frameshift 2/7 - 1
16-2014585-AGGGCCCCC-A c.34_41del p.G12Wfs*44 Frameshift 2/7 - 1
16-2014598-C-T c.29G>A p.G10E Missense 2/7 - 2
16-2014601-C-T c.26G>A p.G9E Missense 2/7 - 1
16-2014596-G-GC c.30dup p.P11Afs*48 Frameshift 2/7 - 1
16-2014611-C-G c.16G>C p.G6R Missense 2/7 - 1
16-2014611-C-T c.16G>A p.G6S Missense 2/7 - 1
16-2014615-G-A c.12C>T p.D4= Synonymous 2/7 - 1
16-2014620-C-G c.7G>C p.D3H Missense 2/7 - 1
16-2014623-C-G c.4G>C p.A2P Missense 2/7 - 1
16-2014623-C-T c.4G>A p.A2T Missense 2/7 - 1
16-2014778-A-G c.-4+30T>C - intron_variant - 1/6 1