CLIP4

CLIP4 CAP-Gly domain containing linker protein family member 4

Annotation transcript: NM_024692.6

685 unique variant annotations were identified in 309 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
2-29339806-C-T c.-16+1275C>T - intron_variant - 1/15 1
2-29343970-T-C c.-15-270T>C - IntronicSNV - 1/15 1
2-29344127-T-G c.-15-113T>G - IntronicSNV - 1/15 1
2-29344260-C-A c.6C>A p.T2= Synonymous 2/16 - 2
2-29344260-C-G c.6C>G p.T2= Synonymous 2/16 - 2
2-29344260-C-T c.6C>T p.T2= Synonymous 2/16 - 2
2-29344268-A-G c.14A>G p.D5G Missense 2/16 - 1
2-29344272-T-A c.18T>A p.L6= Synonymous 2/16 - 1
2-29344272-T-C c.18T>C p.L6= Synonymous 2/16 - 1
2-29344272-T-G c.18T>G p.L6= Synonymous 2/16 - 1
2-29344273-C-G c.19C>G p.P7A Missense 2/16 - 1
2-29344276-G-T c.22G>T p.D8Y Missense 2/16 - 3
2-29344282-C-T c.28C>T p.P10S Missense 2/16 - 5
2-29344283-C-T c.29C>T p.P10L Missense 2/16 - 2
2-29344285-T-G c.31T>G p.L11V Missense 2/16 - 1
2-29344292-G-A c.38G>A p.G13E Missense 2/16 - 1
2-29344297-C-T c.43C>T p.P15S Missense 2/16 - 6
2-29344298-C-T c.44C>T p.P15L Missense 2/16 - 2
2-29344309-AGA-TGG c.55_57delinsTGG p.R19W Missense 2/16 - 1
2-29344316-C-T c.62C>T p.P21L Missense 2/16 - 1
2-29344327-T-C c.73T>C p.S25P Missense 2/16 - 1
2-29344328-C-A c.74C>A p.S25Y Missense 2/16 - 2
2-29344330-GC-AT c.76_77delinsAT p.A26I Missense 2/16 - 1
2-29344330-GC-TG c.76_77delinsTG p.A26C Missense 2/16 - 3
2-29344331-C-G c.77C>G p.A26G Missense 2/16 - 1
2-29344332-T-A c.78T>A p.A26= Synonymous 2/16 - 2
2-29344332-T-C c.78T>C p.A26= Synonymous 2/16 - 2
2-29344332-T-G c.78T>G p.A26= Synonymous 2/16 - 2
2-29344334-C-G c.80C>G p.S27C Missense 2/16 - 6
2-29344336-G-C c.82G>C p.D28H Missense 2/16 - 1
2-29344339-A-T c.85A>T p.T29S Missense 2/16 - 1
2-29344340-C-G c.86C>G p.T29S Missense 2/16 - 1
2-29344342-C-T c.88C>T p.P30S Missense 2/16 - 1
2-29344345-G-A c.91G>A p.V31I Missense 2/16 - 1
2-29344350-C-A c.96C>A p.I32= Synonymous 2/16 - 1
2-29344350-C-G c.96C>G p.I32M Missense 2/16 - 1
2-29344350-C-T c.96C>T p.I32= Synonymous 2/16 - 1
2-29344354-T-C c.100T>C p.S34P Missense 2/16 - 1
2-29344361-C-A c.107C>A p.S36Y Missense 2/16 - 1
2-29344361-C-G c.107C>G p.S36C Missense 2/16 - 1
2-29344363-G-C c.109G>C p.A37P Missense 2/16 - 1
2-29344363-GC-AA c.109_110delinsAA p.A37K Missense 2/16 - 1
2-29344363-G-T c.109G>T p.A37S Missense 2/16 - 1
2-29344366-GCA-TGT c.112_114delinsTGT p.A38C Missense 2/16 - 1
2-29344378-T-C c.124T>C p.S42P Missense 2/16 - 1
2-29344378-TC-GG c.124_125delinsGG p.S42G Missense 2/16 - 1
2-29344385-G-A c.131G>A p.C44Y Missense 2/16 - 1
2-29344410-T-A c.133+23T>A - IntronicSNV - 2/15 3
2-29352870-G-A c.134-1254G>A - IntronicSNV - 2/15 1
2-29354129-T-A c.139T>A p.S47T Missense 3/16 - 1
2-29354134-C-G c.144C>G p.F48L Missense 3/16 - 1
2-29354150-G-A c.160G>A p.A54T Missense 3/16 - 2
2-29354153-T-A c.163T>A p.S55T Missense 3/16 - 1
2-29354154-CA-AT c.164_165delinsAT p.S55Y Missense 3/16 - 1
2-29354154-C-T c.164C>T p.S55L Missense 3/16 - 2
2-29354159-C-A c.169C>A p.Q57K Missense 3/16 - 1
2-29354162-G-A c.172G>A p.E58K Missense 3/16 - 4
2-29354178-C-T c.188C>T p.P63L Missense 3/16 - 1
2-29354185-T-A c.195T>A p.T65= Synonymous 3/16 - 1
2-29354185-T-C c.195T>C p.T65= Synonymous 3/16 - 1
2-29354185-T-G c.195T>G p.T65= Synonymous 3/16 - 2
2-29354187-C-T c.197C>T p.S66L Missense 3/16 - 3
2-29354189-GTT-ATG c.199_201delinsATG p.V67M Missense 3/16 - 1
2-29354194-A-C c.204A>C p.S68= Synonymous 3/16 - 1
2-29354194-A-G c.204A>G p.S68= Synonymous 3/16 - 1
2-29354194-A-T c.204A>T p.S68= Synonymous 3/16 - 1
2-29354195-G-A c.205G>A p.E69K Missense 3/16 - 1
2-29354196-A-G c.206A>G p.E69G Missense 3/16 - 1
2-29354204-G-T c.214G>T p.A72S Missense 3/16 - 1
2-29354205-CC-AG c.215_216delinsAG p.A72E Missense 3/16 - 1
2-29354205-C-T c.215C>T p.A72V Missense 3/16 - 1
2-29354225-C-T c.235C>T p.P79S Missense 3/16 - 2
2-29354228-C-G c.238C>G p.Q80E Missense 3/16 - 1
2-29354233-C-A c.243C>A p.V81= Synonymous 3/16 - 1
2-29354233-C-G c.243C>G p.V81= Synonymous 3/16 - 1
2-29354233-C-T c.243C>T p.V81= Synonymous 3/16 - 2
2-29354242-C-A c.252C>A p.N84K Missense 3/16 - 1
2-29354242-C-G c.252C>G p.N84K Missense 3/16 - 1
2-29354249-A-G c.259A>G p.I87V Missense 3/16 - 1
2-29354254-T-C c.264T>C p.I88= Synonymous 3/16 - 1
2-29355022-T-C c.278T>C p.L93P Missense 4/16 - 1
2-29355022-T-G c.278T>G p.L93R Missense 4/16 - 1
2-29355026-G-A c.282G>A p.K94= Synonymous 4/16 - 1
2-29355028-G-T c.284G>T p.R95I Missense 4/16 - 1
2-29355034-G-A c.290G>A p.C97Y Missense 4/16 - 1
2-29355034-G-T c.290G>T p.C97F Missense 4/16 - 1
2-29355040-T-C c.296T>C p.V99A Missense 4/16 - 2
2-29355040-T-G c.296T>G p.V99G Missense 4/16 - 1
2-29355041-G-A c.297G>A p.V99= Synonymous 4/16 - 1
2-29355041-G-C c.297G>C p.V99= Synonymous 4/16 - 1
2-29355041-G-T c.297G>T p.V99= Synonymous 4/16 - 1
2-29355043-A-C c.299A>C p.N100T Missense 4/16 - 1
2-29355044-T-A c.300T>A p.N100K Missense 4/16 - 1
2-29355044-T-G c.300T>G p.N100K Missense 4/16 - 1
2-29355048-A-T c.304A>T p.R102* Nonsense 4/16 - 1
2-29355049-G-A c.305G>A p.R102K Missense 4/16 - 1
2-29355051-G-C c.307G>C p.D103H Missense 4/16 - 1
2-29355051-G-T c.307G>T p.D103Y Missense 4/16 - 3
2-29355063-G-A c.319G>A p.D107N Missense 4/16 - 1
2-29355063-G-T c.319G>T p.D107Y Missense 4/16 - 1
2-29355066-A-T c.322A>T p.M108L Missense 4/16 - 1
2-29355069-A-G c.325A>G p.T109A Missense 4/16 - 1
2-29355070-C-T c.326C>T p.T109I Missense 4/16 - 2
2-29355071-T-A c.327T>A p.T109= Synonymous 4/16 - 4
2-29355071-T-C c.327T>C p.T109= Synonymous 4/16 - 1
2-29355071-T-G c.327T>G p.T109= Synonymous 4/16 - 1
2-29355078-C-A c.334C>A p.H112N Missense 4/16 - 1
2-29355084-A-G c.340A>G p.T114A Missense 4/16 - 1
2-29355085-CC-TG c.341_342delinsTG p.T114M Missense 4/16 - 1
2-29355089-C-G c.345C>G p.C115W Missense 4/16 - 1
2-29355095-T-A c.351T>A p.S117= Synonymous 4/16 - 1
2-29355095-T-C c.351T>C p.S117= Synonymous 4/16 - 1
2-29355095-T-G c.351T>G p.S117= Synonymous 4/16 - 1
2-29355096-G-A c.352G>A p.G118R Missense 4/16 - 1
2-29355096-G-T c.352G>T p.G118* Nonsense 4/16 - 1
2-29355100-C-T c.356C>T p.A119V Missense 4/16 - 1
2-29355105-G-C c.361G>C p.G121R Missense 4/16 - 1
2-29355303-C-G c.367+192C>G - IntronicSNV - 4/15 2
2-29355303-C-T c.367+192C>T - IntronicSNV - 4/15 3
2-29355345-T-C c.367+234T>C - IntronicSNV - 4/15 2
2-29356469-T-TTGGAA c.368-51_368-47dup - IntronicInsertion - 4/15 1
2-29356523-G-A c.370G>A p.D124N Missense 5/16 - 1
2-29356523-G-C c.370G>C p.D124H Missense 5/16 - 1
2-29356538-G-A c.385G>A p.V129I Missense 5/16 - 2
2-29356544-T-C c.391T>C p.F131L Missense 5/16 - 1
2-29356546-T-A c.393T>A p.F131L Missense 5/16 - 1
2-29356546-T-G c.393T>G p.F131L Missense 5/16 - 1
2-29356553-C-A c.400C>A p.Q134K Missense 5/16 - 1
2-29356553-C-G c.400C>G p.Q134E Missense 5/16 - 2
2-29356553-C-T c.400C>T p.Q134* Nonsense 5/16 - 1
2-29356555-G-C c.402G>C p.Q134H Missense 5/16 - 1
2-29356555-G-T c.402G>T p.Q134H Missense 5/16 - 1
2-29356560-T-G c.407T>G p.I136S Missense 5/16 - 1
2-29356561-T-A c.408T>A p.I136= Synonymous 5/16 - 1
2-29356561-T-C c.408T>C p.I136= Synonymous 5/16 - 1
2-29356562-G-T c.409G>T p.D137Y Missense 5/16 - 1
2-29356565-C-T c.412C>T p.L138= Synonymous 5/16 - 1
2-29356567-G-A c.414G>A p.L138= Synonymous 5/16 - 1
2-29356567-G-C c.414G>C p.L138= Synonymous 5/16 - 8
2-29356567-G-T c.414G>T p.L138= Synonymous 5/16 - 8
2-29356568-G-A c.415G>A p.G139R Missense 5/16 - 4
2-29356569-G-A c.416G>A p.G139E Missense 5/16 - 1
2-29356569-G-T c.416G>T p.G139V Missense 5/16 - 1
2-29356571-AG-A c.418del p.A140Qfs*12 Frameshift 5/16 - 2
2-29356575-A-C c.422A>C p.D141A Missense 5/16 - 1
2-29356577-A-G c.424A>G p.I142V Missense 5/16 - 1
2-29356579-T-A c.426T>A p.I142= Synonymous 5/16 - 1
2-29356579-T-C c.426T>C p.I142= Synonymous 5/16 - 1
2-29356582-T-C c.429T>C p.S143= Synonymous 5/16 - 1
2-29356583-TT-CC c.430_431delinsCC p.L144P Missense 5/16 - 1
2-29356586-C-T c.433C>T p.R145W Missense 5/16 - 1
2-29356592-C-T c.439C>T p.R147C Missense 5/16 - 7
2-29356596-G-A c.443G>A p.W148* Nonsense 5/16 - 1
2-29356610-G-A c.457G>A p.A153T Missense 5/16 - 1
2-29356610-G-T c.457G>T p.A153S Missense 5/16 - 1
2-29356611-C-T c.458C>T p.A153V Missense 5/16 - 1
2-29356615-G-A c.462G>A p.L154= Synonymous 5/16 - 1
2-29356617-A-G c.464A>G p.H155R Missense 5/16 - 1
2-29356623-C-T c.470C>T p.A157V Missense 5/16 - 4
2-29356629-A-G c.476A>G p.Y159C Missense 5/16 - 1
2-29356631-T-C c.478T>C p.F160L Missense 5/16 - 1
2-29356633-T-A c.480T>A p.F160L Missense 5/16 - 1
2-29356633-T-G c.480T>G p.F160L Missense 5/16 - 1
2-29356633-T-C c.480T>C p.F160= Synonymous 5/16 - 1
2-29356641-C-T c.488C>T p.P163L Missense 5/16 - 2
2-29356649-A-T c.496A>T p.I166L Missense 5/16 - 1
2-29356655-G-A c.502G>A p.V168M Missense 5/16 - 1
2-29356656-T-C c.503T>C p.V168A Missense 5/16 - 1
2-29356660-T-A c.507T>A p.I169= Synonymous 5/16 - 1
2-29356660-T-C c.507T>C p.I169= Synonymous 5/16 - 1
2-29356661-T-A c.508T>A p.L170M Missense 5/16 - 1
2-29356661-TTG-ATC c.508_510delinsATC p.L170I Missense 5/16 - 1
2-29356663-G-A c.510G>A p.L170= Synonymous 5/16 - 1
2-29356663-G-C c.510G>C p.L170F Missense 5/16 - 2
2-29356663-G-T c.510G>T p.L170F Missense 5/16 - 2
2-29356668-CA-TG c.515_516inv p.T172M Missense 5/16 - 1
2-29356668-C-T c.515C>T p.T172I Missense 5/16 - 1
2-29356669-A-C c.516A>C p.T172= Synonymous 5/16 - 1
2-29356669-A-G c.516A>G p.T172= Synonymous 5/16 - 14
2-29356669-A-T c.516A>T p.T172= Synonymous 5/16 - 1
2-29356671-C-T c.518C>T p.S173L Missense 5/16 - 4
2-29356672-G-A c.519G>A p.S173= Synonymous 5/16 - 9
2-29356672-G-C c.519G>C p.S173= Synonymous 5/16 - 3
2-29356672-G-T c.519G>T p.S173= Synonymous 5/16 - 3
2-29356677-C-T c.524C>T p.P175L Missense 5/16 - 1
2-29356678-A-C c.525A>C p.P175= Synonymous 5/16 - 1
2-29356678-A-G c.525A>G p.P175= Synonymous 5/16 - 1
2-29356678-A-T c.525A>T p.P175= Synonymous 5/16 - 1
2-29356681-A-C c.528A>C p.K176N Missense 5/16 - 1
2-29356681-A-T c.528A>T p.K176N Missense 5/16 - 1
2-29356723-C-T c.529+41C>T - IntronicSNV - 5/15 1
2-29356728-T-C c.529+46T>C - IntronicSNV - 5/15 6
2-29358430-C-T c.546C>T p.C182= Synonymous 6/16 - 1
2-29358444-T-C c.560T>C p.F187S Missense 6/16 - 1
2-29358445-T-C c.561T>C p.F187= Synonymous 6/16 - 1
2-29358447-G-T c.563G>T p.G188V Missense 6/16 - 1
2-29358452-G-A c.568G>A p.A190T Missense 6/16 - 1
2-29358461-A-G c.577A>G p.I193V Missense 6/16 - 1
2-29358463-T-A c.579T>A p.I193= Synonymous 6/16 - 1
2-29358478-G-C c.594G>C p.L198F Missense 6/16 - 1
2-29358479-T-G c.595T>G p.C199G Missense 6/16 - 1
2-29358480-G-A c.596G>A p.C199Y Missense 6/16 - 1
2-29358480-G-T c.596G>T p.C199F Missense 6/16 - 3
2-29358481-T-G c.597T>G p.C199W Missense 6/16 - 1
2-29358485-GGTGCT-G c.605_609del p.A202Efs*13 Frameshift 6/16 - 1
2-29358489-C-T c.605C>T p.A202V Missense 6/16 - 1
2-29358493-G-A c.609G>A p.V203= Synonymous 6/16 - 1
2-29358493-G-C c.609G>C p.V203= Synonymous 6/16 - 1
2-29358493-G-T c.609G>T p.V203= Synonymous 6/16 - 1
2-29358498-G-T c.614G>T p.C205F Missense 6/16 - 1
2-29358502-C-A c.618C>A p.L206= Synonymous 6/16 - 1
2-29358502-C-G c.618C>G p.L206= Synonymous 6/16 - 1
2-29358502-C-T c.618C>T p.L206= Synonymous 6/16 - 1
2-29358503-T-C c.619T>C p.L207= Synonymous 6/16 - 1
2-29358508-G-A c.624G>A p.E208= Synonymous 6/16 - 1
2-29358514-A-G c.630A>G p.G210= Synonymous 6/16 - 1
2-29358515-G-A c.631G>A p.A211T Missense 6/16 - 2
2-29358524-G-A c.640G>A p.A214T Missense 6/16 - 1
2-29361757-GT-G c.648+3233del - IntronicDeletion - 6/15 1
2-29366574-G-GA c.650dup p.N217Kfs*2 SpliceAcceptorInsertion 7/16 - 1
2-29366576-A-T c.650A>T p.N217I Missense 7/16 - 4
2-29366593-C-T c.667C>T p.P223S Missense 7/16 - 2
2-29366594-C-A c.668C>A p.P223H Missense 7/16 - 1
2-29366594-C-T c.668C>T p.P223L Missense 7/16 - 1
2-29366608-C-T c.682C>T p.P228S Missense 7/16 - 4
2-29366611-G-A c.685G>A p.D229N Missense 7/16 - 1
2-29366620-G-T c.694G>T p.D232Y Missense 7/16 - 1
2-29366623-A-C c.697A>C p.M233L Missense 7/16 - 1
2-29366623-A-T c.697A>T p.M233L Missense 7/16 - 1
2-29366626-C-A c.700C>A p.P234T Missense 7/16 - 1
2-29366627-C-G c.701C>G p.P234R Missense 7/16 - 2
2-29366627-C-T c.701C>T p.P234L Missense 7/16 - 6
2-29366636-T-C c.710T>C p.M237T Missense 7/16 - 1
2-29366644-G-A c.718G>A p.A240T Missense 7/16 - 2
2-29366646-C-A c.720C>A p.A240= Synonymous 7/16 - 1
2-29366646-C-G c.720C>G p.A240= Synonymous 7/16 - 1
2-29366646-C-T c.720C>T p.A240= Synonymous 7/16 - 5
2-29366647-G-A c.721G>A p.A241T Missense 7/16 - 2
2-29366647-G-T c.721G>T p.A241S Missense 7/16 - 1
2-29366651-C-T c.725C>T p.A242V Missense 7/16 - 1
2-29366659-AA-CT c.733_734delinsCT p.K245L Missense 7/16 - 1
2-29366660-A-G c.734A>G p.K245R Missense 7/16 - 2
2-29366662-G-A c.736G>A p.E246K Missense 7/16 - 1
2-29366667-C-A c.741C>A p.I247= Synonymous 7/16 - 4
2-29366667-C-T c.741C>T p.I247= Synonymous 7/16 - 3
2-29366672-A-T c.746A>T p.Q249L Missense 7/16 - 1
2-29366686-G-A c.760G>A p.A254T Missense 7/16 - 1
2-29366687-C-T c.761C>T p.A254V Missense 7/16 - 7
2-29366688-G-A c.762G>A p.A254= Synonymous 7/16 - 1
2-29366688-G-C c.762G>C p.A254= Synonymous 7/16 - 1
2-29366688-G-T c.762G>T p.A254= Synonymous 7/16 - 1
2-29366689-GTG-ATC c.763_765delinsATC p.V255I Missense 7/16 - 1
2-29366693-C-T c.767C>T p.P256L Missense 7/16 - 1
2-29366700-A-C c.774A>C p.S258= Synonymous 7/16 - 1
2-29366724-C-A c.798C>A p.L266= Synonymous 7/16 - 1
2-29366724-C-G c.798C>G p.L266= Synonymous 7/16 - 1
2-29366724-C-T c.798C>T p.L266= Synonymous 7/16 - 5
2-29366725-C-A c.799C>A p.P267T Missense 7/16 - 1
2-29366726-C-T c.800C>T p.P267L Missense 7/16 - 1
2-29366734-G-A c.808G>A p.D270N Missense 7/16 - 2
2-29366740-G-T c.814G>T p.V272F Missense 7/16 - 1
2-29366762-C-T c.836C>T p.T279M Missense 7/16 - 3
2-29366763-G-A c.837G>A p.T279= Synonymous 7/16 - 2
2-29366763-G-C c.837G>C p.T279= Synonymous 7/16 - 2
2-29366763-G-T c.837G>T p.T279= Synonymous 7/16 - 2
2-29366766-A-C c.840A>C p.S280= Synonymous 7/16 - 1
2-29366766-A-G c.840A>G p.S280= Synonymous 7/16 - 1
2-29366766-A-T c.840A>T p.S280= Synonymous 7/16 - 1
2-29366767-C-T c.841C>T p.L281F Missense 7/16 - 1
2-29366775-G-A c.849G>A p.L283= Synonymous 7/16 - 1
2-29366778-G-T c.852G>T p.K284N Missense 7/16 - 1
2-29366783-G-A c.857G>A p.G286E Missense 7/16 - 1
2-29366788-C-T c.862C>T p.R288C Missense 7/16 - 1
2-29366797-A-G c.871A>G p.I291V Missense 7/16 - 1
2-29366800-G-A c.874G>A p.A292T Missense 7/16 - 1
2-29366801-C-T c.875C>T p.A292V Missense 7/16 - 1
2-29366802-A-C c.876A>C p.A292= Synonymous 7/16 - 1
2-29366802-A-G c.876A>G p.A292= Synonymous 7/16 - 1
2-29366802-A-T c.876A>T p.A292= Synonymous 7/16 - 2
2-29366830-A-G c.885+19A>G - IntronicSNV - 7/15 6
2-29366875-C-CACAG c.885+65_885+68dup - IntronicInsertion - 7/15 5
2-29366876-A-AACAG c.885+65_885+66insACAG - IntronicInsertion - 7/15 1
2-29366879-G-GACAA c.885+68_885+69insACAA - IntronicInsertion - 7/15 1
2-29367753-C-T c.886-345C>T - IntronicSNV - 7/15 1
2-29368102-G-T c.890G>T p.G297V Missense 8/16 - 1
2-29368103-T-A c.891T>A p.G297= Synonymous 8/16 - 1
2-29368103-T-C c.891T>C p.G297= Synonymous 8/16 - 2
2-29368103-T-G c.891T>G p.G297= Synonymous 8/16 - 1
2-29368111-G-A c.899G>A p.R300K Missense 8/16 - 1
2-29368113-T-C c.901T>C p.F301L Missense 8/16 - 1
2-29368120-G-A c.908G>A p.G303E Missense 8/16 - 1
2-29368126-C-A c.914C>A p.T305N Missense 8/16 - 1
2-29368129-A-G c.917A>G p.E306G Missense 8/16 - 1
2-29368134-G-A c.922G>A p.A308T Missense 8/16 - 4
2-29368139-T-C c.927T>C p.S309= Synonymous 8/16 - 1
2-29368166-T-G c.954T>G p.D318E Missense 8/16 - 1
2-29368167-G-A c.955G>A p.E319K Missense 8/16 - 1
2-29368170-C-T c.958C>T p.P320S Missense 8/16 - 1
2-29368176-G-A c.964G>A p.G322R Missense 8/16 - 4
2-29368176-G-C c.964G>C p.G322R Missense 8/16 - 1
2-29368177-G-A c.965G>A p.G322E Missense 8/16 - 3
2-29368177-G-T c.965G>T p.G322V Missense 8/16 - 1
2-29368177-G-GA c.971dup p.N324Kfs*2 Frameshift 8/16 - 4
2-29368186-A-G c.974A>G p.N325S Missense 8/16 - 1
2-29368191-AG-TA c.979_980delinsTA p.S327Y Missense 8/16 - 1
2-29368198-G-A c.986G>A p.G329E Missense 8/16 - 1
2-29368211-C-A c.999C>A p.Y333* Nonsense 8/16 - 1
2-29368211-C-G c.999C>G p.Y333* Nonsense 8/16 - 1
2-29368216-A-C c.1004A>C p.K335T Missense 8/16 - 1
2-29368221-G-A c.1009G>A p.A337T Missense 8/16 - 2
2-29368223-C-A c.1011C>A p.A337= Synonymous 8/16 - 2
2-29368223-C-G c.1011C>G p.A337= Synonymous 8/16 - 2
2-29368223-C-T c.1011C>T p.A337= Synonymous 8/16 - 2
2-29368224-C-T c.1012C>T p.P338S Missense 8/16 - 6
2-29368227-A-G c.1015A>G p.K339E Missense 8/16 - 1
2-29368229-G-A c.1017G>A p.K339= Synonymous 8/16 - 1
2-29368229-G-T c.1017G>T p.K339N Missense 8/16 - 1
2-29368497-A-T c.1021+264A>T - IntronicSNV - 8/15 1
2-29371166-A-G c.1021+2933A>G - IntronicSNV - 8/15 1
2-29373632-C-A c.1022-1919C>A - IntronicSNV - 8/15 1
2-29373632-C-T c.1022-1919C>T - IntronicSNV - 8/15 1
2-29375553-A-G c.1024A>G p.I342V Missense 9/16 - 1
2-29375555-T-G c.1026T>G p.I342M Missense 9/16 - 1
2-29375559-G-C c.1030G>C p.A344P Missense 9/16 - 1
2-29375562-C-T c.1033C>T p.P345S Missense 9/16 - 2
2-29375569-C-A c.1040C>A p.S347* Nonsense 9/16 - 1
2-29375569-C-G c.1040C>G p.S347* Nonsense 9/16 - 1
2-29375572-A-T c.1043A>T p.K348M Missense 9/16 - 1
2-29375573-G-C c.1044G>C p.K348N Missense 9/16 - 1
2-29375573-G-T c.1044G>T p.K348N Missense 9/16 - 1
2-29375586-A-C c.1057A>C p.K353Q Missense 9/16 - 1
2-29375592-CGA-TGT c.1063_1065delinsTGT p.R355C Missense 9/16 - 1
2-29375593-G-A c.1064G>A p.R355Q Missense 9/16 - 2
2-29375595-AGG-TGT c.1066_1068delinsTGT p.R356C Missense 9/16 - 1
2-29375597-G-A c.1068G>A p.R356= Synonymous 9/16 - 2
2-29375600-G-A c.1071G>A p.K357= Synonymous 9/16 - 1
2-29375602-A-C c.1073A>C p.N358T Missense 9/16 - 2
2-29375604-A-G c.1075A>G p.I359V Missense 9/16 - 2
2-29375610-C-T c.1081C>T p.H361Y Missense 9/16 - 1
2-29375611-ACACT-A c.1084_1087del p.T362Lfs*17 Frameshift 9/16 - 1
2-29375616-C-T c.1087C>T p.P363S Missense 9/16 - 2
2-29375617-C-T c.1088C>T p.P363L Missense 9/16 - 2
2-29375619-TC-CT c.1090_1091delinsCT p.S364L Missense 9/16 - 1
2-29375634-G-A c.1105G>A p.V369I Missense 9/16 - 1
2-29375643-A-C c.1114A>C p.I372L Missense 9/16 - 1
2-29375645-C-T c.1116C>T p.I372= Synonymous 9/16 - 1
2-29375649-T-A c.1120T>A p.S374T Missense 9/16 - 1
2-29375651-C-A c.1122C>A p.S374= Synonymous 9/16 - 3
2-29375651-C-G c.1122C>G p.S374= Synonymous 9/16 - 2
2-29375651-C-T c.1122C>T p.S374= Synonymous 9/16 - 2
2-29375652-C-T c.1123C>T p.Q375* Nonsense 9/16 - 1
2-29375653-A-G c.1124A>G p.Q375R Missense 9/16 - 1
2-29375659-T-C c.1130T>C p.I377T Missense 9/16 - 1
2-29375664-G-A c.1135G>A p.V379I Missense 9/16 - 1
2-29375664-G-C c.1135G>C p.V379L Missense 9/16 - 1
2-29375664-G-T c.1135G>T p.V379L Missense 9/16 - 4
2-29375667-G-T c.1138G>T p.A380S Missense 9/16 - 1
2-29375670-C-T c.1141C>T p.H381Y Missense 9/16 - 1
2-29375673-G-A c.1144G>A p.V382M Missense 9/16 - 1
2-29375678-G-A c.1149G>A p.T383= Synonymous 9/16 - 1
2-29375678-G-C c.1149G>C p.T383= Synonymous 9/16 - 1
2-29375678-G-T c.1149G>T p.T383= Synonymous 9/16 - 2
2-29375682-A-G c.1153A>G p.K385E Missense 9/16 - 1
2-29379223-T-A c.1169T>A p.L390* Nonsense 10/16 - 1
2-29379223-T-G c.1169T>G p.L390* Nonsense 10/16 - 1
2-29379228-A-G c.1174A>G p.T392A Missense 10/16 - 2
2-29379229-C-T c.1175C>T p.T392I Missense 10/16 - 1
2-29379235-A-G c.1181A>G p.K394R Missense 10/16 - 1
2-29379237-A-C c.1183A>C p.K395Q Missense 10/16 - 1
2-29379232-CA-C c.1185del p.D396Ifs*19 Frameshift 10/16 - 1
2-29379239-A-AT c.1185_1186insT p.D396* Nonsense 10/16 - 1
2-29379240-AG-A c.1186del p.D396Ifs*19 Frameshift 10/16 - 4
2-29379240-G-A c.1186G>A p.D396N Missense 10/16 - 1
2-29379241-A-G c.1187A>G p.D396G Missense 10/16 - 1
2-29379261-C-G c.1207C>G p.L403V Missense 10/16 - 1
2-29379270-C-T c.1216C>T p.P406S Missense 10/16 - 1
2-29379272-CT-C c.1218del p.P407Lfs*8 Frameshift 10/16 - 1
2-29379273-C-A c.1219C>A p.P407T Missense 10/16 - 1
2-29379273-C-T c.1219C>T p.P407S Missense 10/16 - 1
2-29379276-G-T c.1222G>T p.G408C Missense 10/16 - 3
2-29379282-G-A c.1228G>A p.E410K Missense 10/16 - 1
2-29379282-G-T c.1228G>T p.E410* Nonsense 10/16 - 3
2-29379285-C-T c.1231C>T p.L411F Missense 10/16 - 1
2-29379288-A-T c.1234A>T p.K412* Nonsense 10/16 - 4
2-29379298-C-T c.1244C>T p.T415I Missense 10/16 - 1
2-29379299-A-C c.1245A>C p.T415= Synonymous 10/16 - 1
2-29379299-A-G c.1245A>G p.T415= Synonymous 10/16 - 1
2-29379299-A-T c.1245A>T p.T415= Synonymous 10/16 - 1
2-29379302-G-C c.1248G>C p.E416D Missense 10/16 - 1
2-29379302-G-T c.1248G>T p.E416D Missense 10/16 - 1
2-29380055-C-G c.1256-15C>G - IntronicSNV - 10/15 1
2-29380055-C-T c.1256-15C>T - IntronicSNV - 10/15 1
2-29380087-G-A c.1273G>A p.V425I Missense 11/16 - 1
2-29380087-G-T c.1273G>T p.V425F Missense 11/16 - 7
2-29380089-C-T c.1275C>T p.V425= Synonymous 11/16 - 1
2-29380103-C-A c.1289C>A p.S430Y Missense 11/16 - 4
2-29380112-C-G c.1298C>G p.S433C Missense 11/16 - 1
2-29380120-C-T c.1306C>T p.H436Y Missense 11/16 - 1
2-29380124-G-A c.1310G>A p.R437K Missense 11/16 - 1
2-29380126-C-T c.1312C>T p.Q438* Nonsense 11/16 - 1
2-29380130-G-A c.1316G>A p.S439N Missense 11/16 - 1
2-29380131-C-T c.1317C>T p.S439= Synonymous 11/16 - 1
2-29380136-CC-AA c.1322_1323delinsAA p.P441Q Missense 11/16 - 1
2-29380138-A-G c.1324A>G p.K442E Missense 11/16 - 1
2-29380143-A-T c.1329A>T p.K443N Missense 11/16 - 1
2-29380149-T-A c.1335T>A p.N445K Missense 11/16 - 1
2-29380149-T-G c.1335T>G p.N445K Missense 11/16 - 1
2-29380155-C-T c.1341C>T p.I447= Synonymous 11/16 - 1
2-29380156-A-T c.1342A>T p.S448C Missense 11/16 - 1
2-29380160-G-T c.1346G>T p.S449I Missense 11/16 - 1
2-29380161-T-G c.1347T>G p.S449R Missense 11/16 - 1
2-29380167-G-C c.1353G>C p.K451N Missense 11/16 - 1
2-29380167-G-T c.1353G>T p.K451N Missense 11/16 - 3
2-29380168-A-G c.1354A>G p.K452E Missense 11/16 - 1
2-29380168-A-T c.1354A>T p.K452* Nonsense 11/16 - 1
2-29380171-AC-TA c.1357_1358delinsTA p.T453* Nonsense 11/16 - 1
2-29380172-C-A c.1358C>A p.T453K Missense 11/16 - 1
2-29380184-G-A c.1370G>A p.S457N Missense 11/16 - 2
2-29380191-C-T c.1377C>T p.S459= Synonymous 11/16 - 3
2-29380196-C-T c.1382C>T p.S461L Missense 11/16 - 2
2-29380199-C-G c.1385C>G p.S462C Missense 11/16 - 1
2-29380200-C-A c.1386C>A p.S462= Synonymous 11/16 - 1
2-29380205-C-T c.1391C>T p.A464V Missense 11/16 - 3
2-29380207-A-G c.1393A>G p.S465G Missense 11/16 - 1
2-29380211-C-A c.1397C>A p.A466D Missense 11/16 - 1
2-29380393-C-G c.1399+180C>G - IntronicSNV - 11/15 3
2-29381849-G-A c.1400-1350G>A - IntronicSNV - 11/15 1
2-29383208-C-T c.1409C>T p.S470F Missense 12/16 - 5
2-29383220-C-G c.1421C>G p.S474C Missense 12/16 - 1
2-29383223-C-T c.1424C>T p.T475I Missense 12/16 - 1
2-29383224-A-C c.1425A>C p.T475= Synonymous 12/16 - 1
2-29383224-A-G c.1425A>G p.T475= Synonymous 12/16 - 1
2-29383224-A-T c.1425A>T p.T475= Synonymous 12/16 - 1
2-29383227-A-AAG c.1429_1430insGA p.N477Rfs*17 Frameshift 12/16 - 1
2-29383231-AAT-TAA c.1432_1434delinsTAA p.N478* Nonsense 12/16 - 1
2-29383236-C-T c.1437C>T p.S479= Synonymous 12/16 - 1
2-29383237-C-T c.1438C>T p.R480C Missense 12/16 - 1
2-29383238-G-A c.1439G>A p.R480H Missense 12/16 - 1
2-29383238-G-T c.1439G>T p.R480L Missense 12/16 - 1
2-29383243-G-A c.1444G>A p.E482K Missense 12/16 - 2
2-29383245-G-C c.1446G>C p.E482D Missense 12/16 - 1
2-29383245-G-T c.1446G>T p.E482D Missense 12/16 - 1
2-29383247-G-A c.1448G>A p.G483E Missense 12/16 - 1
2-29383244-AG-A c.1450del p.E484Nfs*9 Frameshift 12/16 - 1
2-29383249-G-A c.1450G>A p.E484K Missense 12/16 - 3
2-29383251-A-C c.1452A>C p.E484D Missense 12/16 - 1
2-29383251-A-T c.1452A>T p.E484D Missense 12/16 - 1
2-29383254-C-T c.1455C>T p.L485= Synonymous 12/16 - 1
2-29383255-C-A c.1456C>A p.R486S Missense 12/16 - 1
2-29383255-CG-AT c.1456_1457delinsAT p.R486I Missense 12/16 - 1
2-29383255-C-T c.1456C>T p.R486C Missense 12/16 - 3
2-29383256-G-A c.1457G>A p.R486H Missense 12/16 - 5
2-29383256-G-T c.1457G>T p.R486L Missense 12/16 - 12
2-29383259-T-C c.1460T>C p.L487P Missense 12/16 - 2
2-29383260-C-A c.1461C>A p.L487= Synonymous 12/16 - 1
2-29383260-C-G c.1461C>G p.L487= Synonymous 12/16 - 1
2-29383260-C-T c.1461C>T p.L487= Synonymous 12/16 - 2
2-29383262-G-C c.1463G>C p.G488A Missense 12/16 - 1
2-29383270-G-C c.1471G>C p.V491L Missense 12/16 - 1
2-29383270-G-T c.1471G>T p.V491L Missense 12/16 - 1
2-29383288-AGA-TGG c.1489_1491delinsTGG p.R497W Missense 12/16 - 1
2-29383296-C-A c.1497C>A p.G499= Synonymous 12/16 - 3
2-29383296-C-G c.1497C>G p.G499= Synonymous 12/16 - 2
2-29383296-C-T c.1497C>T p.G499= Synonymous 12/16 - 3
2-29383297-A-G c.1498A>G p.T500A Missense 12/16 - 2
2-29383301-T-C c.1502T>C p.I501T Missense 12/16 - 1
2-29383308-C-T c.1509C>T p.F503= Synonymous 12/16 - 2
2-29383311-T-G c.1512T>G p.F504L Missense 12/16 - 1
2-29383324-T-G c.1525T>G p.F509V Missense 12/16 - 2
2-29383326-C-T c.1527C>T p.F509= Synonymous 12/16 - 2
2-29383328-C-T c.1529C>T p.A510V Missense 12/16 - 1
2-29383329-T-A c.1530T>A p.A510= Synonymous 12/16 - 1
2-29383329-T-C c.1530T>C p.A510= Synonymous 12/16 - 1
2-29383329-T-G c.1530T>G p.A510= Synonymous 12/16 - 1
2-29383374-G-A c.1534+41G>A - IntronicSNV - 12/15 7
2-29386646-G-C c.1535-51G>C - IntronicSNV - 12/15 6
2-29386648-G-C c.1535-49G>C - IntronicSNV - 12/15 1
2-29386699-T-C c.1537T>C p.Y513H Missense 13/16 - 2
2-29386703-G-A c.1541G>A p.W514* Nonsense 13/16 - 1
2-29386703-G-T c.1541G>T p.W514L Missense 13/16 - 2
2-29386704-G-A c.1542G>A p.W514* Nonsense 13/16 - 1
2-29386704-G-C c.1542G>C p.W514C Missense 13/16 - 1
2-29386704-G-T c.1542G>T p.W514C Missense 13/16 - 1
2-29386709-G-C c.1547G>C p.G516A Missense 13/16 - 1
2-29386711-A-G c.1549A>G p.I517V Missense 13/16 - 1
2-29386718-T-A c.1556T>A p.L519H Missense 13/16 - 1
2-29386720-G-A c.1558G>A p.E520K Missense 13/16 - 1
2-29386726-C-T c.1564C>T p.P522S Missense 13/16 - 1
2-29386727-C-G c.1565C>G p.P522R Missense 13/16 - 6
2-29386727-C-T c.1565C>T p.P522L Missense 13/16 - 1
2-29386729-C-A c.1567C>A p.H523N Missense 13/16 - 1
2-29386729-C-T c.1567C>T p.H523Y Missense 13/16 - 5
2-29386730-A-T c.1568A>T p.H523L Missense 13/16 - 1
2-29386732-G-T c.1570G>T p.G524C Missense 13/16 - 1
2-29386734-C-A c.1572C>A p.G524= Synonymous 13/16 - 2
2-29386734-C-G c.1572C>G p.G524= Synonymous 13/16 - 3
2-29386734-C-T c.1572C>T p.G524= Synonymous 13/16 - 2
2-29386736-A-G c.1574A>G p.K525R Missense 13/16 - 1
2-29386739-A-G c.1577A>G p.N526S Missense 13/16 - 1
2-29386742-A-T c.1580A>T p.D527V Missense 13/16 - 1
2-29386744-GGT-TGG c.1582_1584delinsTGG p.G528W Missense 13/16 - 1
2-29386745-G-T c.1583G>T p.G528V Missense 13/16 - 2
2-29386751-T-G c.1589T>G p.V530G Missense 13/16 - 2
2-29386753-G-A c.1591G>A p.G531R Missense 13/16 - 4
2-29386753-G-C c.1591G>C p.G531R Missense 13/16 - 1
2-29386756-G-C c.1594G>C p.G532R Missense 13/16 - 1
2-29386758-T-C c.1596T>C p.G532= Synonymous 13/16 - 1
2-29386762-C-T c.1600C>T p.Q534* Nonsense 13/16 - 4
2-29386765-T-C c.1603T>C p.Y535H Missense 13/16 - 1
2-29386774-T-A c.1612T>A p.C538S Missense 13/16 - 1
2-29386774-TG-AC c.1612_1613delinsAC p.C538T Missense 13/16 - 1
2-29386778-C-A c.1616C>A p.S539Y Missense 13/16 - 1
2-29386778-C-G c.1616C>G p.S539C Missense 13/16 - 1
2-29386781-CCA-C c.1619_1620del p.P540Qfs*28 Frameshift 13/16 - 1
2-29386783-A-T c.1621A>T p.R541* Nonsense 13/16 - 6
2-29386786-T-C c.1624T>C p.Y542H Missense 13/16 - 1
2-29386787-A-G c.1625A>G p.Y542C Missense 13/16 - 5
2-29386790-G-A c.1628G>A p.G543E Missense 13/16 - 2
2-29386793-T-C c.1631T>C p.I544T Missense 13/16 - 1
2-29386801-C-G c.1639C>G p.P547A Missense 13/16 - 1
2-29386804-C-T c.1642C>T p.P548S Missense 13/16 - 1
2-29386805-C-A c.1643C>A p.P548Q Missense 13/16 - 1
2-29386805-C-T c.1643C>T p.P548L Missense 13/16 - 1
2-29386807-T-C c.1645T>C p.S549P Missense 13/16 - 1
2-29386813-G-C c.1651G>C p.V551L Missense 13/16 - 1
2-29386813-G-T c.1651G>T p.V551L Missense 13/16 - 1
2-29386816-C-T c.1654C>T p.Q552* Nonsense 13/16 - 1
2-29386819-AG-A c.1658+1del - IntronicDeletion - 13/15 1
2-29387027-A-C c.1658+207A>C - IntronicSNV - 13/15 1
2-29387053-A-G c.1658+233A>G - IntronicSNV - 13/15 1
2-29387114-T-C c.1658+294T>C - IntronicSNV - 13/15 1
2-29387140-T-C c.1658+320T>C - IntronicSNV - 13/15 1
2-29390301-A-G c.1659-41A>G - IntronicSNV - 13/15 1
2-29390325-C-G c.1659-17C>G - IntronicSNV - 13/15 1
2-29390325-C-T c.1659-17C>T - IntronicSNV - 13/15 1
2-29390343-G-C c.1660G>C p.V554L Missense 14/16 - 1
2-29390343-G-T c.1660G>T p.V554L Missense 14/16 - 1
2-29390345-A-G c.1662A>G p.V554= Synonymous 14/16 - 1
2-29390346-A-G c.1663A>G p.T555A Missense 14/16 - 1
2-29390348-A-G c.1665A>G p.T555= Synonymous 14/16 - 1
2-29390349-G-T c.1666G>T p.D556Y Missense 14/16 - 1
2-29390358-G-A c.1675G>A p.D559N Missense 14/16 - 2
2-29390368-C-T c.1685C>T p.S562L Missense 14/16 - 1
2-29390370-G-A c.1687G>A p.E563K Missense 14/16 - 1
2-29390370-GA-CT c.1687_1688delinsCT p.E563L Missense 14/16 - 1
2-29390370-GA-TT c.1687_1688delinsTT p.E563L Missense 14/16 - 1
2-29390370-G-T c.1687G>T p.E563* Nonsense 14/16 - 2
2-29390371-A-T c.1688A>T p.E563V Missense 14/16 - 1
2-29390381-A-G c.1698A>G p.S566= Synonymous 14/16 - 1
2-29390386-A-G c.1703A>G p.K568R Missense 14/16 - 1
2-29390390-G-T c.1707G>T p.Q569H Missense 14/16 - 1
2-29390393-C-A c.1710C>A p.N570K Missense 14/16 - 1
2-29390396-T-G c.1713T>G p.H571Q Missense 14/16 - 1
2-29390395-A-AT c.1714dup p.S572Ffs*6 Frameshift 14/16 - 1
2-29390399-T-G c.1716T>G p.S572= Synonymous 14/16 - 1
2-29390406-G-A c.1723G>A p.G575S Missense 14/16 - 2
2-29391579-G-A c.1723+1173G>A - IntronicSNV - 14/15 1
2-29391579-G-T c.1723+1173G>T - IntronicSNV - 14/15 1
2-29393664-AT-A c.1723+3269del - IntronicDeletion - 14/15 1
2-29397246-G-A c.1731G>A p.R577= Synonymous 15/16 - 2
2-29397246-G-C c.1731G>C p.R577S Missense 15/16 - 1
2-29397246-G-T c.1731G>T p.R577S Missense 15/16 - 1
2-29397248-G-A c.1733G>A p.R578K Missense 15/16 - 1
2-29397248-G-T c.1733G>T p.R578I Missense 15/16 - 5
2-29397256-A-G c.1741A>G p.S581G Missense 15/16 - 1
2-29397268-G-GTAGATGTT c.1753_1754insTAGATGTT p.A585Vfs*40 Frameshift 15/16 - 1
2-29397269-C-CTATTATATTAAATGT c.1755_1756insATTATATTAAATGTT p.A585_S586insIILNV InFrameInsertion 15/16 - 1
2-29397271-T-G c.1756T>G p.S586A Missense 15/16 - 1
2-29397275-C-T c.1760C>T p.S587F Missense 15/16 - 1
2-29397291-C-G c.1776C>G p.N592K Missense 15/16 - 1
2-29397293-G-T c.1778G>T p.R593I Missense 15/16 - 2
2-29397296-G-A c.1781G>A p.R594K Missense 15/16 - 5
2-29397296-G-T c.1781G>T p.R594I Missense 15/16 - 1
2-29397298-A-T c.1783A>T p.N595Y Missense 15/16 - 1
2-29397302-C-A c.1787C>A p.A596D Missense 15/16 - 2
2-29397304-T-C c.1789T>C p.F597L Missense 15/16 - 1
2-29397306-T-A c.1791T>A p.F597L Missense 15/16 - 1
2-29397306-T-G c.1791T>G p.F597L Missense 15/16 - 1
2-29397306-T-C c.1791T>C p.F597= Synonymous 15/16 - 2
2-29397307-T-A c.1792T>A p.S598T Missense 15/16 - 1
2-29397308-C-T c.1793C>T p.S598F Missense 15/16 - 1
2-29397309-C-A c.1794C>A p.S598= Synonymous 15/16 - 1
2-29404251-G-A c.1797-187G>A - IntronicSNV - 15/15 2
2-29404432-G-A c.1797-6G>A - IntronicSNV - 15/15 1
2-29404432-G-C c.1797-6G>C - IntronicSNV - 15/15 1
2-29404440-C-T c.1799C>T p.S600L Missense 16/16 - 7
2-29404441-G-A c.1800G>A p.S600= Synonymous 16/16 - 3
2-29404441-G-C c.1800G>C p.S600= Synonymous 16/16 - 2
2-29404441-G-T c.1800G>T p.S600= Synonymous 16/16 - 3
2-29404449-C-T c.1808C>T p.A603V Missense 16/16 - 1
2-29404451-T-C c.1810T>C p.L604= Synonymous 16/16 - 1
2-29404455-G-A c.1814G>A p.R605H Missense 16/16 - 4
2-29404457-C-G c.1816C>G p.R606G Missense 16/16 - 2
2-29404458-G-A c.1817G>A p.R606H Missense 16/16 - 2
2-29404458-G-T c.1817G>T p.R606L Missense 16/16 - 1
2-29404460-A-G c.1819A>G p.S607G Missense 16/16 - 1
2-29404460-AG-CC c.1819_1820delinsCC p.S607P Missense 16/16 - 1
2-29404464-G-T c.1823G>T p.W608L Missense 16/16 - 2
2-29404467-G-A c.1826G>A p.S609N Missense 16/16 - 1
2-29404468-C-T c.1827C>T p.S609= Synonymous 16/16 - 1
2-29404470-G-A c.1829G>A p.S610N Missense 16/16 - 2
2-29404473-C-T c.1832C>T p.T611I Missense 16/16 - 1
2-29404478-A-C c.1837A>C p.T613P Missense 16/16 - 2
2-29404480-C-A c.1839C>A p.T613= Synonymous 16/16 - 1
2-29404480-C-G c.1839C>G p.T613= Synonymous 16/16 - 1
2-29404480-C-T c.1839C>T p.T613= Synonymous 16/16 - 1
2-29404486-T-A c.1845T>A p.G615= Synonymous 16/16 - 1
2-29404486-T-C c.1845T>C p.G615= Synonymous 16/16 - 1
2-29404486-T-G c.1845T>G p.G615= Synonymous 16/16 - 1
2-29404487-G-T c.1846G>T p.G616C Missense 16/16 - 1
2-29404493-G-C c.1852G>C p.E618Q Missense 16/16 - 1
2-29404497-G-A c.1856G>A p.G619E Missense 16/16 - 1
2-29404500-G-A c.1859G>A p.S620N Missense 16/16 - 2
2-29404502-G-A c.1861G>A p.V621M Missense 16/16 - 2
2-29404513-C-T c.1872C>T p.H624= Synonymous 16/16 - 2
2-29404514-G-A c.1873G>A p.E625K Missense 16/16 - 3
2-29404518-G-T c.1877G>T p.G626V Missense 16/16 - 1
2-29404519-G-A c.1878G>A p.G626= Synonymous 16/16 - 3
2-29404519-G-GC c.1878_1879insC p.S627Lfs*10 Frameshift 16/16 - 1
2-29404520-TC-CT c.1879_1880delinsCT p.S627L Missense 16/16 - 1
2-29404523-C-G c.1882C>G p.Q628E Missense 16/16 - 1
2-29404526-G-A c.1885G>A p.V629I Missense 16/16 - 1
2-29404532-C-T c.1891C>T p.L631F Missense 16/16 - 1
2-29404533-T-C c.1892T>C p.L631P Missense 16/16 - 1
2-29404538-AG-TA c.1897_1898delinsTA p.S633Y Missense 16/16 - 1
2-29404549-G-A c.1908G>A p.E636= Synonymous 16/16 - 1
2-29404555-T-A c.1914T>A p.G638= Synonymous 16/16 - 2
2-29404555-T-C c.1914T>C p.G638= Synonymous 16/16 - 3
2-29404555-T-G c.1914T>G p.G638= Synonymous 16/16 - 2
2-29404557-CT-TG c.1916_1917delinsTG p.T639M Missense 16/16 - 1
2-29404562-AGG-CAT c.1921_1923delinsCAT p.R641H Missense 16/16 - 1
2-29404563-G-A c.1922G>A p.R641K Missense 16/16 - 1
2-29404571-GGC-TGG c.1930_1932delinsTGG p.G644W Missense 16/16 - 1
2-29404572-G-A c.1931G>A p.G644D Missense 16/16 - 1
2-29404572-GC-G c.1935del p.T646Lfs*39 Frameshift 16/16 - 1
2-29404589-T-C c.1948T>C p.S650P Missense 16/16 - 1
2-29404610-G-A c.1969G>A p.E657K Missense 16/16 - 2
2-29404615-C-A c.1974C>A p.L658= Synonymous 16/16 - 1
2-29404616-C-T c.1975C>T p.R659* Nonsense 16/16 - 3
2-29404617-G-A c.1976G>A p.R659Q Missense 16/16 - 3
2-29404624-C-A c.1983C>A p.A661= Synonymous 16/16 - 1
2-29404629-G-A c.1988G>A p.G663E Missense 16/16 - 2
2-29404629-GA-G c.1994del p.N665Mfs*20 Frameshift 16/16 - 1
2-29404640-G-A c.1999G>A p.G667R Missense 16/16 - 2
2-29404640-G-C c.1999G>C p.G667R Missense 16/16 - 1
2-29404641-G-T c.2000G>T p.G667V Missense 16/16 - 1
2-29404644-C-T c.2003C>T p.S668L Missense 16/16 - 1
2-29404654-C-T c.2013C>T p.D671= Synonymous 16/16 - 1
2-29404656-A-G c.2015A>G p.K672R Missense 16/16 - 1
2-29404659-G-A c.2018G>A p.R673H Missense 16/16 - 2
2-29404659-GC-AA c.2018_2019delinsAA p.R673Q Missense 16/16 - 1
2-29404659-G-T c.2018G>T p.R673L Missense 16/16 - 2
2-29404664-T-C c.2023T>C p.F675L Missense 16/16 - 1
2-29404666-C-A c.2025C>A p.F675L Missense 16/16 - 1
2-29404666-C-G c.2025C>G p.F675L Missense 16/16 - 1
2-29404669-C-A c.2028C>A p.T676= Synonymous 16/16 - 1
2-29404678-G-A c.2037G>A p.P679= Synonymous 16/16 - 2
2-29404678-G-C c.2037G>C p.P679= Synonymous 16/16 - 1
2-29404678-G-T c.2037G>T p.P679= Synonymous 16/16 - 1
2-29404681-C-T c.2040C>T p.N680= Synonymous 16/16 - 1
2-29404682-C-A c.2041C>A p.H681N Missense 16/16 - 1
2-29404698-G-A c.2057G>A p.R686Q Missense 16/16 - 1
2-29404701-C-T c.2060C>T p.P687L Missense 16/16 - 1
2-29404702-G-A c.2061G>A p.P687= Synonymous 16/16 - 1
2-29404702-G-C c.2061G>C p.P687= Synonymous 16/16 - 1
2-29404702-G-T c.2061G>T p.P687= Synonymous 16/16 - 1
2-29404707-G-T c.2066G>T p.R689I Missense 16/16 - 2
2-29404706-A-C c.2065A>C p.R689= Synonymous 16/16 - 1
2-29404708-A-G c.2067A>G p.R689= Synonymous 16/16 - 1
2-29404710-T-C c.2069T>C p.V690A Missense 16/16 - 1
2-29404714-C-A c.2073C>A p.T691= Synonymous 16/16 - 1
2-29404714-C-G c.2073C>G p.T691= Synonymous 16/16 - 1
2-29404714-C-T c.2073C>T p.T691= Synonymous 16/16 - 1
2-29404718-CGG-ATC c.2077_2079delinsATC p.R693I Missense 16/16 - 1
2-29404718-C-T c.2077C>T p.R693W Missense 16/16 - 1
2-29404719-G-A c.2078G>A p.R693Q Missense 16/16 - 3
2-29404720-G-T c.2079G>T p.R693= Synonymous 16/16 - 1
2-29404722-G-C c.2081G>C p.G694A Missense 16/16 - 1
2-29404728-A-C c.2087A>C p.N696T Missense 16/16 - 1
2-29404730-G-T c.2089G>T p.G697W Missense 16/16 - 1
2-29404740-T-G c.2099T>G p.L700R Missense 16/16 - 1
2-29404745-G-A c.2104G>A p.D702N Missense 16/16 - 1
2-29404746-A-G c.2105A>G p.D702G Missense 16/16 - 1
2-29404756-T-G c.2115T>G p.C705W Missense 16/16 - 2
2-29405333-C-A c.*574C>A - 3-UTRSNV 16/16 - 1