CLN5

CLN5 CLN5 intracellular trafficking protein

Annotation transcript: NM_006493.4

416 unique variant annotations were identified in 291 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
13-77566082-G-T c.-5G>T - 5-UTRSNV 1/4 - 1
13-77566222-G-A c.-12G>A - Missense 1/4 - 1
13-77566238-C-A c.5C>A p.A2E missense_variant 1/4 - 1
13-77566238-C-G c.5C>G p.A2G Missense 1/4 - 1
13-77566238-C-T c.5C>T p.A2V Missense 1/4 - 2
13-77566243-G-A c.10G>A p.E4K Missense 1/4 - 2
13-77566245-G-C c.12G>C p.E4D Missense 1/4 - 1
13-77566245-G-T c.12G>T p.E4D Missense 1/4 - 1
13-77566246-G-A c.13G>A p.V5I Missense 1/4 - 1
13-77566252-A-G c.19A>G p.T7A Missense 1/4 - 2
13-77566253-C-T c.20C>T p.T7M Missense 1/4 - 1
13-77566254-G-C c.21G>C p.T7= Synonymous 1/4 - 2
13-77566259-A-G c.26A>G p.Q9R Missense 1/4 - 1
13-77566261-G-A c.28G>A p.G10S Missense 1/4 - 1
13-77566264-G-T c.31G>T p.A11S Missense 1/4 - 2
13-77566265-C-T c.32C>T p.A11V Missense 1/4 - 1
13-77566269-G-T c.36G>T p.E12D Missense 1/4 - 1
13-77566273-C-A c.40C>A p.R14= Synonymous 1/4 - 2
13-77566273-CGG-TGT c.40_42delinsTGT p.R14C Missense 1/4 - 1
13-77566275-G-A c.42G>A p.R14= Synonymous 1/4 - 2
13-77566275-G-C c.42G>C p.R14= Synonymous 1/4 - 2
13-77566275-G-T c.42G>T p.R14= Synonymous 1/4 - 2
13-77566274-G-C c.41G>C p.R14P Missense 1/4 - 2
13-77566274-GG-AT c.41_42delinsAT p.R14H Missense 1/4 - 2
13-77566274-G-T c.41G>T p.R14L Missense 1/4 - 1
13-77566276-CG-AA c.43_44delinsAA p.R15K Missense 1/4 - 1
13-77566286-G-A c.53G>A p.G18D Missense 1/4 - 1
13-77566289-C-T c.56C>T p.A19V Missense 1/4 - 1
13-77566294-C-T c.61C>T p.R21W Missense 1/4 - 1
13-77566295-G-A c.62G>A p.R21Q Missense 1/4 - 2
13-77566297-G-A c.64G>A p.G22R Missense 1/4 - 1
13-77566300-C-T c.67C>T p.R23C Missense 1/4 - 2
13-77566305-T-C c.72T>C p.A24= Synonymous 1/4 - 1
13-77566308-C-T c.75C>T p.S25= Synonymous 1/4 - 1
13-77566309-T-A c.76T>A p.W26R Missense 1/4 - 2
13-77566309-T-C c.76T>C p.W26R Missense 1/4 - 7
13-77566310-G-C c.77G>C p.W26S Missense 1/4 - 1
13-77566310-G-T c.77G>T p.W26L Missense 1/4 - 1
13-77566311-G-A c.78G>A p.W26* Nonsense 1/4 - 8
13-77566311-G-T c.78G>T p.W26C Missense 1/4 - 1
13-77566313-G-A c.80G>A p.C27Y Missense 1/4 - 2
13-77566316-G-T c.83G>T p.W28L Missense 1/4 - 1
13-77566320-C-A c.87C>A p.A29= Synonymous 1/4 - 3
13-77566320-C-G c.87C>G p.A29= Synonymous 1/4 - 5
13-77566320-C-T c.87C>T p.A29= Synonymous 1/4 - 3
13-77566325-C-A c.92C>A p.A31E Missense 1/4 - 1
13-77566328-T-C c.95T>C p.L32P Missense 1/4 - 1
13-77566335-G-A c.102G>A p.W34* Nonsense 1/4 - 1
13-77566339-G-A c.106G>A p.A36T Missense 1/4 - 1
13-77566339-G-C c.106G>C p.A36P Missense 1/4 - 2
13-77566340-C-T c.107C>T p.A36V Missense 1/4 - 1
13-77566349-C-T c.116C>T p.P39L Missense 1/4 - 3
13-77566351-G-A c.118G>A p.G40S Missense 1/4 - 2
13-77566354-T-A c.121T>A p.W41R Missense 1/4 - 1
13-77566354-T-C c.121T>C p.W41R Missense 1/4 - 1
13-77566359-C-T c.126C>T p.S42= Synonymous 1/4 - 1
13-77566362-G-A c.129G>A p.R43= Synonymous 1/4 - 1
13-77566363-G-A c.130G>A p.V44I Missense 1/4 - 1
13-77566368-G-A c.135G>A p.S45= Synonymous 1/4 - 1
13-77566368-G-C c.135G>C p.S45= Synonymous 1/4 - 2
13-77566368-G-T c.135G>T p.S45= Synonymous 1/4 - 1
13-77566369-G-T c.136G>T p.G46C Missense 1/4 - 1
13-77566370-G-A c.137G>A p.G46D Missense 1/4 - 1
13-77566373-T-C c.140T>C p.I47T Missense 1/4 - 1
13-77566378-T-C c.145T>C p.S49P Missense 1/4 - 1
13-77566384-C-T c.151C>T p.R51C Missense 1/4 - 1
13-77566385-G-A c.152G>A p.R51H Missense 1/4 - 1
13-77566389-C-A c.156C>A p.H52Q Missense 1/4 - 1
13-77566389-C-G c.156C>G p.H52Q Missense 1/4 - 1
13-77566397-T-A c.164T>A p.V55E Missense 1/4 - 1
13-77566398-G-A c.165G>A p.V55= Synonymous 1/4 - 1
13-77566404-C-T c.171C>T p.Y57= Synonymous 1/4 - 1
13-77566406-A-G c.173A>G p.K58R Missense 1/4 - 1
13-77566411-G-A c.173+5G>A - IntronicSNV - 1/3 1
13-77566411-G-C c.173+5G>C - IntronicSNV - 1/3 1
13-77566414-C-T c.173+8C>T - IntronicSNV - 1/3 8
13-77566424-C-T c.173+18C>T - IntronicSNV - 1/3 3
13-77566455-A-T c.173+49A>T - IntronicSNV - 1/3 1
13-77567681-AT-A c.173+1285del - IntronicDeletion - 1/3 1
13-77569199-C-T c.175C>T p.R59C Missense 2/4 - 1
13-77569200-G-A c.176G>A p.R59H Missense 2/4 - 4
13-77569208-T-G c.184T>G p.F62V Missense 2/4 - 1
13-77569211-C-T c.187C>T p.R63C Missense 2/4 - 3
13-77569212-G-A c.188G>A p.R63H Missense 2/4 - 11
13-77569212-G-C c.188G>C p.R63P Missense 2/4 - 6
13-77569215-C-A c.191C>A p.P64Q Missense 2/4 - 1
13-77569223-G-C c.199G>C p.D67H Missense 2/4 - 1
13-77569228-T-G c.204T>G p.P68= Synonymous 2/4 - 1
13-77569239-C-T c.215C>T p.A72V Missense 2/4 - 2
13-77569245-A-T c.221A>T p.Y74F Missense 2/4 - 1
13-77569248-C-T c.224C>T p.T75I Missense 2/4 - 3
13-77569252-C-T c.228C>T p.F76= Synonymous 2/4 - 1
13-77569254-G-A c.230G>A p.C77Y Missense 2/4 - 4
13-77569255-T-C c.231T>C p.C77= Synonymous 2/4 - 1
13-77569269-C-T c.245C>T p.P82L Missense 2/4 - 1
13-77569270-T-A c.246T>A p.P82= Synonymous 2/4 - 1
13-77569270-T-C c.246T>C p.P82= Synonymous 2/4 - 1
13-77569270-T-G c.246T>G p.P82= Synonymous 2/4 - 1
13-77569273-C-T c.249C>T p.I83= Synonymous 2/4 - 1
13-77569275-C-T c.251C>T p.P84L Missense 2/4 - 1
13-77569277-G-T c.253G>T p.V85F Missense 2/4 - 2
13-77569280-A-G c.256A>G p.M86V Missense 2/4 - 1
13-77569283-G-A c.259G>A p.E87K Missense 2/4 - 1
13-77569285-G-C c.261G>C p.E87D Missense 2/4 - 2
13-77569285-G-T c.261G>T p.E87D Missense 2/4 - 1
13-77569286-G-A c.262G>A p.G88S Missense 2/4 - 2
13-77569289-G-A c.265G>A p.D89N Missense 2/4 - 1
13-77569290-A-G c.266A>G p.D89G Missense 2/4 - 3
13-77569301-G-A c.277G>A p.E93K Missense 2/4 - 1
13-77569301-G-C c.277G>C p.E93Q Missense 2/4 - 1
13-77569310-C-T c.286C>T p.R96* Nonsense 2/4 - 10
13-77569311-G-A c.287G>A p.R96Q Missense 2/4 - 2
13-77569311-G-C c.287G>C p.R96P Missense 2/4 - 4
13-77569313-T-C c.289T>C p.L97= Synonymous 2/4 - 1
13-77569315-A-G c.291A>G p.L97= Synonymous 2/4 - 3
13-77569316-C-T c.292C>T p.Q98* Nonsense 2/4 - 1
13-77569320-C-T c.296C>T p.A99V Missense 2/4 - 2
13-77569321-C-G c.297C>G p.A99= Synonymous 2/4 - 1
13-77569322-C-T c.298C>T p.P100S Missense 2/4 - 1
13-77569324-A-G c.300A>G p.P100= Synonymous 2/4 - 1
13-77569325-GT-TC c.301_302delinsTC p.V101S Missense 2/4 - 1
13-77569326-T-C c.302T>C p.V101A Missense 2/4 - 2
13-77569328-T-G c.304T>G p.W102G Missense 2/4 - 1
13-77569348-C-T c.324C>T p.D108= Synonymous 2/4 - 1
13-77569349-C-T c.325C>T p.L109F Missense 2/4 - 1
13-77569352-CT-TG c.328_329delinsTG p.L110W Missense 2/4 - 1
13-77569364-G-A c.339+1G>A - IntronicSNV - 2/3 1
13-77569368-G-C c.339+5G>C - IntronicSNV - 2/3 2
13-77569502-GTCAAAAATAGTTACTATCAGATTTTGTAATCTTGACAACAACAAATGTAATCACCATTA-G c.339+142_339+200del - Unclassified - 2/3 1
13-77569672-T-C c.339+309T>C - IntronicSNV - 2/3 1
13-77569901-G-A c.340-136G>A - intron_variant - 2/3 7
13-77569947-A-T c.340-90A>T - intron_variant - 2/3 1
13-77570038-A-C c.341A>C p.K114T Missense 3/4 - 1
13-77570043-A-T c.346A>T p.M116L Missense 3/4 - 1
13-77570046-CA-GC c.349_350delinsGC p.H117A Missense 3/4 - 1
13-77570048-T-A c.351T>A p.H117Q Missense 3/4 - 1
13-77570052-G-T c.355G>T p.A119S Missense 3/4 - 2
13-77570055-A-G c.358A>G p.I120V Missense 3/4 - 2
13-77570063-C-T c.366C>T p.F122= Synonymous 3/4 - 1
13-77570064-AGA-TGT c.367_369delinsTGT p.R123C Missense 3/4 - 1
13-77570065-G-T c.368G>T p.R123I Missense 3/4 - 2
13-77570066-A-G c.369A>G p.R123= Synonymous 3/4 - 1
13-77570068-G-A c.371G>A p.S124N Missense 3/4 - 2
13-77570074-T-A c.377T>A p.L126* Nonsense 3/4 - 1
13-77570074-T-G c.377T>G p.L126* Nonsense 3/4 - 3
13-77570074-T-TA c.379dup p.T127Nfs*11 Frameshift 3/4 - 1
13-77570078-T-G c.381T>G p.T127= Synonymous 3/4 - 7
13-77570079-G-A c.382G>A p.G128S Missense 3/4 - 1
13-77570079-G-T c.382G>T p.G128C Missense 3/4 - 1
13-77570081-C-T c.384C>T p.G128= Synonymous 3/4 - 1
13-77570084-G-C c.387G>C p.K129N Missense 3/4 - 1
13-77570084-G-T c.387G>T p.K129N Missense 3/4 - 1
13-77570085-AAC-CAA c.388_390delinsCAA p.N130Q Missense 3/4 - 2
13-77570092-C-T c.395C>T p.T132I Missense 3/4 - 1
13-77570093-A-G c.396A>G p.T132= Synonymous 3/4 - 1
13-77570095-T-G c.398T>G p.M133R Missense 3/4 - 3
13-77570096-G-A c.399G>A p.M133I Missense 3/4 - 2
13-77570096-G-C c.399G>C p.M133I Missense 3/4 - 1
13-77570096-G-T c.399G>T p.M133I Missense 3/4 - 1
13-77570104-A-G c.407A>G p.Y136C Missense 3/4 - 1
13-77570106-G-C c.409G>C p.E137Q Missense 3/4 - 1
13-77570112-T-C c.415T>C p.F139L Missense 3/4 - 3
13-77570114-C-G c.417C>G p.F139L Missense 3/4 - 2
13-77570114-C-A c.417C>A p.F139L Missense 3/4 - 3
13-77570115-C-T c.418C>T p.Q140* Nonsense 3/4 - 3
13-77570119-T-G c.422T>G p.L141R Missense 3/4 - 1
13-77570118-C-CT c.423dup p.G142Wfs*11 Frameshift 3/4 - 1
13-77570121-G-C c.424G>C p.G142R Missense 3/4 - 2
13-77570124-AAC-CAA c.427_429delinsCAA p.N143Q Missense 3/4 - 2
13-77570125-A-G c.428A>G p.N143S Missense 3/4 - 5
13-77570128-G-A c.431G>A p.C144Y Missense 3/4 - 1
13-77570129-T-A c.432T>A p.C144* Nonsense 3/4 - 1
13-77570143-T-C c.446T>C p.L149P Missense 3/4 - 4
13-77570145-CG-AT c.448_449delinsAT p.R150I Missense 3/4 - 1
13-77570145-C-T c.448C>T p.R150* Nonsense 3/4 - 10
13-77570146-G-A c.449G>A p.R150Q Missense 3/4 - 1
13-77570146-G-T c.449G>T p.R150L Missense 3/4 - 3
13-77570147-A-T c.450A>T p.R150= Synonymous 3/4 - 1
13-77570148-C-T c.451C>T p.P151S Missense 3/4 - 1
13-77570151-G-C c.454G>C p.E152Q Missense 3/4 - 1
13-77570154-A-G c.457A>G p.M153V Missense 3/4 - 2
13-77570155-T-G c.458T>G p.M153R Missense 3/4 - 1
13-77570156-G-A c.459G>A p.M153I Missense 3/4 - 6
13-77570156-G-C c.459G>C p.M153I Missense 3/4 - 2
13-77570156-G-T c.459G>T p.M153I Missense 3/4 - 2
13-77570161-C-T c.464C>T p.A155V Missense 3/4 - 3
13-77570163-C-A c.466C>A p.P156T Missense 3/4 - 1
13-77570163-C-T c.466C>T p.P156S Missense 3/4 - 3
13-77570166-T-C c.469T>C p.F157L Missense 3/4 - 1
13-77570168-C-T c.471C>T p.F157= Synonymous 3/4 - 1
13-77570169-T-A c.472T>A p.W158R Missense 3/4 - 1
13-77570169-T-C c.472T>C p.W158R Missense 3/4 - 4
13-77570170-G-C c.473G>C p.W158S Missense 3/4 - 3
13-77570172-TG-AC c.475_476delinsAC p.C159T Missense 3/4 - 1
13-77570173-G-A c.476G>A p.C159Y Missense 3/4 - 3
13-77570183-C-T c.486C>T p.G162= Synonymous 3/4 - 2
13-77570184-G-A c.487G>A p.A163T Missense 3/4 - 1
13-77570187-G-T c.490G>T p.A164S Missense 3/4 - 2
13-77570189-C-G c.492C>G p.A164= Synonymous 3/4 - 2
13-77570191-G-T c.494G>T p.C165F Missense 3/4 - 3
13-77570193-T-C c.496T>C p.F166L Missense 3/4 - 1
13-77570194-T-A c.497T>A p.F166Y Missense 3/4 - 1
13-77570195-T-A c.498T>A p.F166L Missense 3/4 - 3
13-77570197-T-C c.500T>C p.F167S Missense 3/4 - 1
13-77570192-CT-C c.501del p.F167Lfs*15 Frameshift 3/4 - 1
13-77570198-T-A c.501T>A p.F167L Missense 3/4 - 1
13-77570199-G-T c.502G>T p.E168* Nonsense 3/4 - 2
13-77570202-G-A c.505G>A p.G169R Missense 3/4 - 3
13-77570202-G-C c.505G>C p.G169R Missense 3/4 - 1
13-77570204-A-C c.507A>C p.G169= Synonymous 3/4 - 1
13-77570204-A-G c.507A>G p.G169= Synonymous 3/4 - 1
13-77570204-A-T c.507A>T p.G169= Synonymous 3/4 - 1
13-77570218-A-AC c.522dup p.W175Lfs*30 Frameshift 3/4 - 2
13-77570219-C-T c.522C>T p.H174= Synonymous 3/4 - 1
13-77570221-G-A c.524G>A p.W175* Nonsense 3/4 - 10
13-77570220-TG-T c.525del p.W175* Frameshift 3/4 - 1
13-77570222-G-A c.525G>A p.W175* Nonsense 3/4 - 4
13-77570223-A-C c.526A>C p.K176Q Missense 3/4 - 1
13-77570223-A-G c.526A>G p.K176E Missense 3/4 - 2
13-77570229-AAT-CAA c.532_534delinsCAA p.N178Q Missense 3/4 - 2
13-77570232-G-A c.535G>A p.G179R Missense 3/4 - 1
13-77570232-GG-AA c.535_536delinsAA p.G179K Missense 3/4 - 1
13-77570233-G-A c.536G>A p.G179E Missense 3/4 - 1
13-77570239-T-C c.542T>C p.L181S Missense 3/4 - 1
13-77570242-T-C c.545T>C p.V182A Missense 3/4 - 1
13-77570244-C-T c.547C>T p.Q183* Nonsense 3/4 - 4
13-77570246-A-C c.549A>C p.Q183H Missense 3/4 - 1
13-77570247-G-A c.550G>A p.V184I Missense 3/4 - 1
13-77570251-C-T c.554C>T p.A185V Missense 3/4 - 1
13-77570261-A-T c.564A>T p.S188= Synonymous 3/4 - 1
13-77570352-T-A c.565+90T>A - IntronicSNV - 3/3 2
13-77574596-A-G c.569A>G p.N190S Missense 4/4 - 3
13-77574599-T-C c.572T>C p.M191T Missense 4/4 - 1
13-77574600-G-A c.573G>A p.M191I Missense 4/4 - 1
13-77574600-G-C c.573G>C p.M191I Missense 4/4 - 1
13-77574600-G-T c.573G>T p.M191I Missense 4/4 - 1
13-77574601-T-G c.574T>G p.F192V Missense 4/4 - 1
13-77574604-A-G c.577A>G p.N193D Missense 4/4 - 1
13-77574606-C-A c.579C>A p.N193K Missense 4/4 - 14
13-77574606-C-G c.579C>G p.N193K Missense 4/4 - 3
13-77574608-A-G c.581A>G p.Q194R Missense 4/4 - 1
13-77574610-A-G c.583A>G p.M195V Missense 4/4 - 1
13-77574621-G-A c.594G>A p.W198* Nonsense 4/4 - 2
13-77574621-G-C c.594G>C p.W198C Missense 4/4 - 1
13-77574621-G-T c.594G>T p.W198C Missense 4/4 - 1
13-77574622-G-C c.595G>C p.V199L Missense 4/4 - 3
13-77574622-G-T c.595G>T p.V199L Missense 4/4 - 2
13-77574626-A-G c.599A>G p.K200R Missense 4/4 - 1
13-77574628-C-CA c.602dup p.D202Gfs*3 Frameshift 4/4 - 1
13-77574630-G-T c.603G>T p.Q201H Missense 4/4 - 1
13-77574634-AAT-CAA c.607_609delinsCAA p.N203Q Missense 4/4 - 2
13-77574637-G-T c.610G>T p.E204* Nonsense 4/4 - 3
13-77574647-TTTA-T c.625_627del p.Y209del InFrameDeletion 4/4 - 1
13-77574652-T-G c.625T>G p.Y209D Missense 4/4 - 7
13-77574653-A-G c.626A>G p.Y209C Missense 4/4 - 1
13-77574655-G-A c.628G>A p.E210K Missense 4/4 - 1
13-77574664-A-C c.637A>C p.N213H Missense 4/4 - 1
13-77574666-T-A c.639T>A p.N213K Missense 4/4 - 1
13-77574668-T-A c.641T>A p.V214E Missense 4/4 - 2
13-77574668-T-C c.641T>C p.V214A Missense 4/4 - 1
13-77574678-C-T c.651C>T p.S217= Synonymous 4/4 - 1
13-77574679-C-T c.652C>T p.P218S Missense 4/4 - 3
13-77574682-G-A c.655G>A p.E219K Missense 4/4 - 1
13-77574682-G-T c.655G>T p.E219* Nonsense 4/4 - 1
13-77574683-A-C c.656A>C p.E219A missense_variant 4/4 - 2
13-77574686-A-G c.659A>G p.K220R Missense 4/4 - 1
13-77574691-G-A c.664G>A p.A222T Missense 4/4 - 2
13-77574691-G-C c.664G>C p.A222P Missense 4/4 - 1
13-77574692-C-T c.665C>T p.A222V Missense 4/4 - 2
13-77574702-G-C c.675G>C p.W225C Missense 4/4 - 1
13-77574707-A-T c.680A>T p.D227V Missense 4/4 - 1
13-77574709-T-C c.682T>C p.S228P Missense 4/4 - 4
13-77574710-C-G c.683C>G p.S228C Missense 4/4 - 1
13-77574710-C-T c.683C>T p.S228F Missense 4/4 - 1
13-77574712-T-C c.685T>C p.Y229H Missense 4/4 - 5
13-77574713-A-G c.686A>G p.Y229C Missense 4/4 - 1
13-77574715-G-A c.688G>A p.D230N Missense 4/4 - 10
13-77574715-GAC-CAA c.688_690delinsCAA p.D230Q Missense 4/4 - 1
13-77574718-T-A c.691T>A p.C231S Missense 4/4 - 1
13-77574719-G-C c.692G>C p.C231S Missense 4/4 - 1
13-77574719-G-A c.692G>A p.C231Y Missense 4/4 - 1
13-77574721-T-C c.694T>C p.S232P Missense 4/4 - 1
13-77574728-T-G c.701T>G p.F234C Missense 4/4 - 1
13-77574729-T-G c.702T>G p.F234L Missense 4/4 - 1
13-77574730-GTG-ATC c.703_705delinsATC p.V235I Missense 4/4 - 1
13-77574731-T-C c.704T>C p.V235A Missense 4/4 - 2
13-77574732-G-A c.705G>A p.V235= Synonymous 4/4 - 1
13-77574737-G-C c.710G>C p.R237T Missense 4/4 - 1
13-77574739-A-G c.712A>G p.T238A Missense 4/4 - 1
13-77574742-T-G c.715T>G p.F239V Missense 4/4 - 1
13-77574750-G-A c.723G>A p.K241= Synonymous 4/4 - 2
13-77574761-T-G c.734T>G p.F245C Missense 4/4 - 1
13-77574765-A-C c.738A>C p.G246= Synonymous 4/4 - 1
13-77574765-A-G c.738A>G p.G246= Synonymous 4/4 - 1
13-77574765-A-T c.738A>T p.G246= Synonymous 4/4 - 1
13-77574769-G-A c.742G>A p.E248K Missense 4/4 - 1
13-77574774-C-T c.747C>T p.F249= Synonymous 4/4 - 1
13-77574779-A-G c.752A>G p.N251S Missense 4/4 - 1
13-77574783-A-C c.756A>C p.I252= Synonymous 4/4 - 1
13-77574783-A-G c.756A>G p.I252M Missense 4/4 - 1
13-77574783-A-T c.756A>T p.I252= Synonymous 4/4 - 1
13-77574784-G-C c.757G>C p.E253Q Missense 4/4 - 2
13-77574785-A-C c.758A>C p.E253A Missense 4/4 - 2
13-77574786-A-C c.759A>C p.E253D Missense 4/4 - 1
13-77574786-A-T c.759A>T p.E253D Missense 4/4 - 1
13-77574790-AAC-CAA c.763_765delinsCAA p.N255Q Missense 4/4 - 2
13-77574790-AAC-TAA c.763_765delinsTAA p.N255* Nonsense 4/4 - 1
13-77574794-A-G c.767A>G p.Y256C Missense 4/4 - 1
13-77574794-A-T c.767A>T p.Y256F Missense 4/4 - 1
13-77574798-A-G c.771A>G p.T257= Synonymous 4/4 - 1
13-77574803-T-A c.776T>A p.I259K Missense 4/4 - 1
13-77574803-TA-GC c.776_777delinsGC p.I259S Missense 4/4 - 1
13-77574805-T-C c.778T>C p.F260L Missense 4/4 - 1
13-77574804-ATT-A c.779_780del p.F260Sfs*12 Frameshift 4/4 - 2
13-77574808-C-A c.781C>A p.L261I Missense 4/4 - 2
13-77574811-T-G c.784T>G p.Y262D Missense 4/4 - 1
13-77574814-A-G c.787A>G p.S263G Missense 4/4 - 1
13-77574814-CAG-C c.787_788del p.S263Wfs*9 Frameshift 4/4 - 6
13-77574815-G-A c.788G>A p.S263N Missense 4/4 - 3
13-77574820-G-A c.793G>A p.E265K Missense 4/4 - 1
13-77574824-C-G c.797C>G p.P266R Missense 4/4 - 1
13-77574826-A-C c.799A>C p.T267P Missense 4/4 - 1
13-77574838-AAT-CAA c.811_813delinsCAA p.N271Q Missense 4/4 - 2
13-77574839-A-G c.812A>G p.N271S Missense 4/4 - 8
13-77574849-T-A c.822T>A p.S274= Synonymous 4/4 - 1
13-77574849-T-C c.822T>C p.S274= Synonymous 4/4 - 1
13-77574849-T-G c.822T>G p.S274= Synonymous 4/4 - 1
13-77574851-T-C c.824T>C p.V275A Missense 4/4 - 1
13-77574852-T-C c.825T>C p.V275= Synonymous 4/4 - 1
13-77574859-C-T c.832C>T p.P278S Missense 4/4 - 1
13-77574862-A-G c.835A>G p.T279A Missense 4/4 - 1
13-77574868-AAC-CAA c.841_843delinsCAA p.N281Q Missense 4/4 - 1
13-77574868-AAC-TAA c.841_843delinsTAA p.N281* Nonsense 4/4 - 1
13-77574869-A-T c.842A>T p.N281I Missense 4/4 - 1
13-77574873-G-C c.846G>C p.K282N Missense 4/4 - 1
13-77574873-G-T c.846G>T p.K282N Missense 4/4 - 1
13-77574887-C-T c.860C>T p.A287V Missense 4/4 - 1
13-77574889-A-G c.862A>G p.I288V Missense 4/4 - 1
13-77574891-A-G c.864A>G p.I288M Missense 4/4 - 1
13-77574896-G-A c.869G>A p.R290K Missense 4/4 - 1
13-77574896-G-T c.869G>T p.R290I Missense 4/4 - 5
13-77574906-C-A c.879C>A p.Y293* Nonsense 4/4 - 2
13-77574910-T-C c.883T>C p.F295L Missense 4/4 - 1
13-77574912-C-A c.885C>A p.F295L Missense 4/4 - 1
13-77574912-C-G c.885C>G p.F295L Missense 4/4 - 2
13-77574919-C-T c.892C>T p.H298Y Missense 4/4 - 1
13-77574924-G-T c.897G>T p.L299F Missense 4/4 - 1
13-77574931-A-G c.904A>G p.K302E Missense 4/4 - 1
13-77574934-G-T c.907G>T p.E303* Nonsense 4/4 - 2
13-77574946-AG-TT c.919_920delinsTT p.S307F Missense 4/4 - 1
13-77574947-G-A c.920G>A p.S307N Missense 4/4 - 1
13-77574953-T-C c.926T>C p.L309S Missense 4/4 - 1
13-77574960-T-A c.933T>A p.I311= Synonymous 4/4 - 1
13-77574960-T-C c.933T>C p.I311= Synonymous 4/4 - 1
13-77574960-T-G c.933T>G p.I311M Missense 4/4 - 1
13-77574961-T-G c.934T>G p.F312V Missense 4/4 - 2
13-77574962-T-C c.935T>C p.F312S Missense 4/4 - 5
13-77574972-G-A c.945G>A p.V315= Synonymous 4/4 - 1
13-77574972-G-C c.945G>C p.V315= Synonymous 4/4 - 1
13-77574972-G-T c.945G>T p.V315= Synonymous 4/4 - 1
13-77574983-A-G c.956A>G p.K319R Missense 4/4 - 24
13-77574985-C-T c.958C>T p.Q320* Nonsense 4/4 - 1
13-77574987-G-A c.960G>A p.Q320= Synonymous 4/4 - 1
13-77574987-G-C c.960G>C p.Q320H Missense 4/4 - 1
13-77574988-T-C c.961T>C p.F321L Missense 4/4 - 1
13-77574990-C-A c.963C>A p.F321L Missense 4/4 - 2
13-77574992-A-G c.965A>G p.Y322C Missense 4/4 - 3
13-77574996-G-A c.969G>A p.L323= Synonymous 4/4 - 1
13-77575001-A-G c.974A>G p.Y325C Missense 4/4 - 7
13-77575004-A-T c.977A>T p.N326I Missense 4/4 - 2
13-77575006-T-G c.979T>G p.F327V Missense 4/4 - 1
13-77575007-T-C c.980T>C p.F327S Missense 4/4 - 1
13-77575009-G-A c.982G>A p.E328K Missense 4/4 - 1
13-77575017-G-A c.990G>A p.W330* Nonsense 4/4 - 3
13-77575017-G-C c.990G>C p.W330C Missense 4/4 - 2
13-77575017-G-T c.990G>T p.W330C Missense 4/4 - 8
13-77575022-T-C c.995T>C p.L332S Missense 4/4 - 1
13-77575023-A-G c.996A>G p.L332= Synonymous 4/4 - 1
13-77575025-C-T c.998C>T p.P333L Missense 4/4 - 1
13-77575026-T-C c.999T>C p.P333= Synonymous 4/4 - 1
13-77575027-A-C c.1000A>C p.M334L Missense 4/4 - 1
13-77575027-A-G c.1000A>G p.M334V Missense 4/4 - 1
13-77575027-A-T c.1000A>T p.M334L Missense 4/4 - 1
13-77575029-G-A c.1002G>A p.M334I Missense 4/4 - 1
13-77575032-A-C c.1005A>C p.K335N Missense 4/4 - 1
13-77575032-A-T c.1005A>T p.K335N Missense 4/4 - 2
13-77575046-A-C c.1019A>C p.K340T Missense 4/4 - 4
13-77575046-A-T c.1019A>T p.K340I Missense 4/4 - 1
13-77575053-A-C c.1026A>C p.T342= Synonymous 4/4 - 1
13-77575053-A-G c.1026A>G p.T342= Synonymous 4/4 - 1
13-77575053-A-T c.1026A>T p.T342= Synonymous 4/4 - 1
13-77575052-CAT-C c.1028_1029del p.Y343* Frameshift 4/4 - 8
13-77575056-T-A c.1029T>A p.Y343* Nonsense 4/4 - 5
13-77575056-T-G c.1029T>G p.Y343* Nonsense 4/4 - 5
13-77575057-G-A c.1030G>A p.E344K Missense 4/4 - 1
13-77575065-C-A c.1038C>A p.I346= Synonymous 4/4 - 1
13-77575068-T-C c.1041T>C p.P347= Synonymous 4/4 - 1
13-77575072-C-A c.1045C>A p.P349T Missense 4/4 - 1
13-77575072-C-T c.1045C>T p.P349S Missense 4/4 - 1
13-77575078-A-G c.1051A>G p.R351G Missense 4/4 - 3
13-77575081-AAC-CAA c.1054_1056delinsCAA p.N352Q Missense 4/4 - 3
13-77575084-A-G c.1057A>G p.K353E Missense 4/4 - 1
13-77575089-A-G c.1062A>G p.T354= Synonymous 4/4 - 1
13-77575094-C-T c.1067C>T p.S356F Missense 4/4 - 1
13-77575095-T-A c.1068T>A p.S356= Synonymous 4/4 - 1
13-77575095-T-C c.1068T>C p.S356= Synonymous 4/4 - 1
13-77575095-T-G c.1068T>G p.S356= Synonymous 4/4 - 1
13-77575096-G-A c.1069G>A p.G357S Missense 4/4 - 1
13-77575101-A-T c.1074A>T p.L358F Missense 4/4 - 1
13-77575137-A-G c.*33A>G - 3-UTRSNV 4/4 - 7
13-77575259-C-T c.*155C>T - 3-UTRSNV 4/4 - 2
13-77575262-C-G c.*158C>G - 3-UTRSNV 4/4 - 1
13-77575262-C-T c.*158C>T - 3-UTRSNV 4/4 - 1
13-77575396-G-A c.*292G>A - 3-UTRSNV 4/4 - 6
13-77576383-G-C c.*1279G>C - 3-UTRSNV 4/4 - 2
13-77577027-T-C c.*1923T>C - IntergenicSNV 4/4 - 2