Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
11-3239198-C-A | c.846G>T | p.Q282H | Missense | 1/1 | - | 1 |
11-3239198-C-G | c.846G>C | p.Q282H | Missense | 1/1 | - | 1 |
11-3239201-T-C | c.843A>G | p.G281= | Synonymous | 1/1 | - | 1 |
11-3239202-C-T | c.842G>A | p.G281E | Missense | 1/1 | - | 1 |
11-3239203-C-G | c.841G>C | p.G281R | Missense | 1/1 | - | 1 |
11-3239203-C-T | c.841G>A | p.G281R | Missense | 1/1 | - | 2 |
11-3239228-C-T | c.816G>A | p.G272= | Synonymous | 1/1 | - | 1 |
11-3239233-G-C | c.811C>G | p.L271V | Missense | 1/1 | - | 1 |
11-3239236-C-T | c.808G>A | p.A270T | Missense | 1/1 | - | 2 |
11-3239237-C-G | c.807G>C | p.R269S | Missense | 1/1 | - | 1 |
11-3239241-C-A | c.803G>T | p.R268L | Missense | 1/1 | - | 1 |
11-3239241-C-T | c.803G>A | p.R268Q | Missense | 1/1 | - | 3 |
11-3239249-C-T | c.795G>A | p.S265= | Synonymous | 1/1 | - | 1 |
11-3239259-G-A | c.785C>T | p.P262L | Missense | 1/1 | - | 1 |
11-3239263-C-T | c.781G>A | p.E261K | Missense | 1/1 | - | 2 |
11-3239266-G-A | c.778C>T | p.R260W | Missense | 1/1 | - | 1 |
11-3239267-C-T | c.777G>A | p.K259= | Synonymous | 1/1 | - | 1 |
11-3239272-C-T | c.772G>A | p.G258R | Missense | 1/1 | - | 1 |
11-3239277-T-A | c.767A>T | p.Q256L | Missense | 1/1 | - | 1 |
11-3239281-G-A | c.763C>T | p.R255* | Nonsense | 1/1 | - | 1 |
11-3239296-A-G | c.748T>C | p.Y250H | Missense | 1/1 | - | 1 |
11-3239310-G-T | c.734C>A | p.S245Y | Missense | 1/1 | - | 1 |
11-3239313-C-T | c.731G>A | p.S244N | Missense | 1/1 | - | 1 |
11-3239319-T-A | c.725A>T | p.N242I | Missense | 1/1 | - | 1 |
11-3239323-C-T | c.721G>A | p.V241I | Missense | 1/1 | - | 1 |
11-3239324-G-A | c.720C>T | p.C240= | Synonymous | 1/1 | - | 2 |
11-3239325-C-T | c.719G>A | p.C240Y | Missense | 1/1 | - | 1 |
11-3239325-C-G | c.719G>C | p.C240S | Missense | 1/1 | - | 1 |
11-3239326-A-T | c.718T>A | p.C240S | Missense | 1/1 | - | 1 |
11-3239337-G-A | c.707C>T | p.T236M | Missense | 1/1 | - | 1 |
11-3239356-C-T | c.688G>A | p.V230M | Missense | 1/1 | - | 2 |
11-3239358-G-A | c.686C>T | p.P229L | Missense | 1/1 | - | 1 |
11-3239371-T-C | c.673A>G | p.N225D | Missense | 1/1 | - | 1 |
11-3239382-T-G | c.662A>C | p.Q221P | Missense | 1/1 | - | 1 |
11-3239402-C-T | c.642G>A | p.S214= | Synonymous | 1/1 | - | 1 |
11-3239410-G-T | c.634C>A | p.L212M | Missense | 1/1 | - | 1 |
11-3239412-C-T | c.632G>A | p.G211D | Missense | 1/1 | - | 1 |
11-3239419-A-C | c.625T>G | p.F209V | Missense | 1/1 | - | 1 |
11-3239420-G-T | c.624C>A | p.F208L | Missense | 1/1 | - | 1 |
11-3239436-G-A | c.608C>T | p.A203V | Missense | 1/1 | - | 1 |
11-3239438-G-A | c.606C>T | p.G202= | Synonymous | 1/1 | - | 1 |
11-3239438-G-C | c.606C>G | p.G202= | Synonymous | 1/1 | - | 1 |
11-3239438-G-T | c.606C>A | p.G202= | Synonymous | 1/1 | - | 1 |
11-3239441-C-A | c.603G>T | p.L201= | Synonymous | 1/1 | - | 1 |
11-3239441-C-G | c.603G>C | p.L201= | Synonymous | 1/1 | - | 1 |
11-3239441-C-T | c.603G>A | p.L201= | Synonymous | 1/1 | - | 1 |
11-3239443-G-A | c.601C>T | p.L201= | Synonymous | 1/1 | - | 1 |
11-3239452-C-T | c.592G>A | p.G198S | Missense | 1/1 | - | 1 |
11-3239463-G-C | c.581C>G | p.P194R | Missense | 1/1 | - | 1 |
11-3239466-C-G | c.578G>C | p.R193P | Missense | 1/1 | - | 1 |
11-3239469-G-A | c.575C>T | p.P192L | Missense | 1/1 | - | 3 |
11-3239469-G-T | c.575C>A | p.P192Q | Missense | 1/1 | - | 1 |
11-3239478-GA-AG | c.565_566delinsCT | p.S189L | Missense | 1/1 | - | 1 |
11-3239479-A-G | c.565T>C | p.S189P | Missense | 1/1 | - | 1 |
11-3239483-G-A | c.561C>T | p.C187= | Synonymous | 1/1 | - | 1 |
11-3239487-G-C | c.557C>G | p.T186S | Missense | 1/1 | - | 1 |
11-3239488-T-A | c.556A>T | p.T186S | Missense | 1/1 | - | 1 |
11-3239492-C-T | c.552G>A | p.W184* | Nonsense | 1/1 | - | 1 |
11-3239503-G-A | c.541C>T | p.L181F | Missense | 1/1 | - | 1 |
11-3239509-AC-A | c.535del | p.V179Wfs*7 | Frameshift | 1/1 | - | 1 |
11-3239516-C-A | c.528G>T | p.T176= | Synonymous | 1/1 | - | 2 |
11-3239516-C-G | c.528G>C | p.T176= | Synonymous | 1/1 | - | 2 |
11-3239516-C-T | c.528G>A | p.T176= | Synonymous | 1/1 | - | 2 |
11-3239527-C-T | c.517G>A | p.V173I | Missense | 1/1 | - | 1 |
11-3239528-G-A | c.516C>T | p.R172= | Synonymous | 1/1 | - | 1 |
11-3239528-G-C | c.516C>G | p.R172= | Synonymous | 1/1 | - | 1 |
11-3239528-G-T | c.516C>A | p.R172= | Synonymous | 1/1 | - | 1 |
11-3239529-C-T | c.515G>A | p.R172H | Missense | 1/1 | - | 1 |
11-3239530-G-T | c.514C>A | p.R172S | Missense | 1/1 | - | 1 |
11-3239537-C-T | c.507G>A | p.V169= | Synonymous | 1/1 | - | 1 |
11-3239552-G-A | c.492C>T | p.V164= | Synonymous | 1/1 | - | 1 |
11-3239552-G-C | c.492C>G | p.V164= | Synonymous | 1/1 | - | 1 |
11-3239552-G-T | c.492C>A | p.V164= | Synonymous | 1/1 | - | 1 |
11-3239554-C-T | c.490G>A | p.V164I | Missense | 1/1 | - | 1 |
11-3239559-G-A | c.485C>T | p.A162V | Missense | 1/1 | - | 5 |
11-3239572-G-A | c.472C>T | p.R158C | Missense | 1/1 | - | 1 |
11-3239574-G-A | c.470C>T | p.P157L | Missense | 1/1 | - | 1 |
11-3239576-G-A | c.468C>T | p.C156= | Synonymous | 1/1 | - | 1 |
11-3239576-G-C | c.468C>G | p.C156W | Missense | 1/1 | - | 1 |
11-3239576-G-T | c.468C>A | p.C156* | Nonsense | 1/1 | - | 1 |
11-3239585-G-T | c.459C>A | p.P153= | Synonymous | 1/1 | - | 1 |
11-3239592-G-A | c.452C>T | p.A151V | Missense | 1/1 | - | 1 |
11-3239593-C-T | c.451G>A | p.A151T | Missense | 1/1 | - | 2 |
11-3239594-G-A | c.450C>T | p.S150= | Synonymous | 1/1 | - | 1 |
11-3239600-GC-TT | c.443_444delinsAA | p.R148Q | Missense | 1/1 | - | 1 |
11-3239601-C-A | c.443G>T | p.R148L | Missense | 1/1 | - | 1 |
11-3239601-C-T | c.443G>A | p.R148H | Missense | 1/1 | - | 1 |
11-3239602-G-A | c.442C>T | p.R148C | Missense | 1/1 | - | 1 |
11-3239614-A-G | c.430T>C | p.C144R | Missense | 1/1 | - | 1 |
11-3239618-G-A | c.426C>T | p.N142= | Synonymous | 1/1 | - | 1 |
11-3239642-CAG-GAT | c.400_402delinsATC | p.L134I | Missense | 1/1 | - | 1 |
11-3239647-T-G | c.397A>C | p.T133P | Missense | 1/1 | - | 1 |
11-3239648-C-A | c.396G>T | p.P132= | Synonymous | 1/1 | - | 1 |
11-3239648-TC-T | c.396del | p.T133Pfs*53 | Frameshift | 1/1 | - | 1 |
11-3239649-G-A | c.395C>T | p.P132L | Missense | 1/1 | - | 1 |
11-3239652-G-A | c.392C>T | p.T131I | Missense | 1/1 | - | 1 |
11-3239660-C-A | c.384G>T | p.L128= | Synonymous | 1/1 | - | 1 |
11-3239660-C-G | c.384G>C | p.L128= | Synonymous | 1/1 | - | 1 |
11-3239660-C-T | c.384G>A | p.L128= | Synonymous | 1/1 | - | 1 |
11-3239662-G-A | c.382C>T | p.L128= | Synonymous | 1/1 | - | 1 |
11-3239666-G-T | c.378C>A | p.C126* | Nonsense | 1/1 | - | 1 |
11-3239668-A-T | c.376T>A | p.C126S | Missense | 1/1 | - | 1 |
11-3239674-C-T | c.370G>A | p.V124I | Missense | 1/1 | - | 2 |
11-3239678-C-T | c.366G>A | p.S122= | Synonymous | 1/1 | - | 1 |
11-3239679-G-A | c.365C>T | p.S122L | Missense | 1/1 | - | 2 |
11-3239679-G-T | c.365C>A | p.S122* | Nonsense | 1/1 | - | 1 |
11-3239681-G-A | c.363C>T | p.A121= | Synonymous | 1/1 | - | 1 |
11-3239681-G-C | c.363C>G | p.A121= | Synonymous | 1/1 | - | 1 |
11-3239681-G-T | c.363C>A | p.A121= | Synonymous | 1/1 | - | 1 |
11-3239695-G-A | c.349C>T | p.R117W | Missense | 1/1 | - | 2 |
11-3239700-C-T | c.344G>A | p.G115D | Missense | 1/1 | - | 2 |
11-3239709-CA-GT | c.334_335delinsAC | p.C112T | Missense | 1/1 | - | 1 |
11-3239725-C-T | c.319G>A | p.D107N | Missense | 1/1 | - | 1 |
11-3239726-G-A | c.318C>T | p.S106= | Synonymous | 1/1 | - | 2 |
11-3239726-G-C | c.318C>G | p.S106= | Synonymous | 1/1 | - | 1 |
11-3239726-G-T | c.318C>A | p.S106= | Synonymous | 1/1 | - | 1 |
11-3239725-CG-C | c.318del | p.D107Tfs*79 | Frameshift | 1/1 | - | 1 |
11-3239729-G-A | c.315C>T | p.L105= | Synonymous | 1/1 | - | 1 |
11-3239736-C-T | c.308G>A | p.R103H | Missense | 1/1 | - | 2 |
11-3239737-G-A | c.307C>T | p.R103C | Missense | 1/1 | - | 1 |
11-3239738-C-T | c.306G>A | p.E102= | Synonymous | 1/1 | - | 1 |
11-3239743-C-A | c.301G>T | p.V101L | Missense | 1/1 | - | 1 |
11-3239743-C-G | c.301G>C | p.V101L | Missense | 1/1 | - | 1 |
11-3239773-C-A | c.271G>T | p.V91L | Missense | 1/1 | - | 2 |
11-3239773-C-G | c.271G>C | p.V91L | Missense | 1/1 | - | 2 |
11-3239775-G-A | c.269C>T | p.A90V | Missense | 1/1 | - | 1 |
11-3239777-G-A | c.267C>T | p.F89= | Synonymous | 1/1 | - | 1 |
11-3239785-G-A | c.259C>T | p.L87= | Synonymous | 1/1 | - | 2 |
11-3239790-G-A | c.254C>T | p.T85I | Missense | 1/1 | - | 1 |
11-3239798-G-A | c.246C>T | p.F82= | Synonymous | 1/1 | - | 1 |
11-3239801-G-C | c.243C>G | p.Y81* | Nonsense | 1/1 | - | 1 |
11-3239805-A-G | c.239T>C | p.L80P | Missense | 1/1 | - | 2 |
11-3239812-C-T | c.232G>A | p.D78N | Missense | 1/1 | - | 1 |
11-3239818-C-T | c.226G>A | p.A76T | Missense | 1/1 | - | 1 |
11-3239824-G-T | c.220C>A | p.L74M | Missense | 1/1 | - | 1 |
11-3239826-G-A | c.218C>T | p.A73V | Missense | 1/1 | - | 1 |
11-3239845-A-T | c.199T>A | p.F67I | Missense | 1/1 | - | 1 |
11-3239848-C-T | c.196G>A | p.G66S | Missense | 1/1 | - | 1 |
11-3239863-G-A | c.181C>T | p.L61F | Missense | 1/1 | - | 1 |
11-3239864-G-A | c.180C>T | p.F60= | Synonymous | 1/1 | - | 2 |
11-3239868-A-T | c.176T>A | p.L59Q | Missense | 1/1 | - | 1 |
11-3239869-G-T | c.175C>A | p.L59M | Missense | 1/1 | - | 1 |
11-3239870-G-A | c.174C>T | p.F58= | Synonymous | 1/1 | - | 1 |
11-3239871-A-G | c.173T>C | p.F58S | Missense | 1/1 | - | 1 |
11-3239874-T-G | c.170A>C | p.D57A | Missense | 1/1 | - | 1 |
11-3239876-G-A | c.168C>T | p.A56= | Synonymous | 1/1 | - | 1 |
11-3239878-C-G | c.166G>C | p.A56P | Missense | 1/1 | - | 5 |
11-3239878-C-T | c.166G>A | p.A56T | Missense | 1/1 | - | 1 |
11-3239890-G-A | c.154C>T | p.H52Y | Missense | 1/1 | - | 1 |
11-3239897-G-C | c.147C>G | p.Y49* | Nonsense | 1/1 | - | 1 |
11-3239901-A-G | c.143T>C | p.I48T | Missense | 1/1 | - | 1 |
11-3239904-G-T | c.140C>A | p.S47Y | Missense | 1/1 | - | 1 |
11-3239910-G-A | c.134C>T | p.P45L | Missense | 1/1 | - | 1 |
11-3239918-C-T | c.126G>A | p.K42= | Synonymous | 1/1 | - | 1 |
11-3239921-G-C | c.123C>G | p.I41M | Missense | 1/1 | - | 1 |
11-3239926-G-T | c.118C>A | p.R40S | Missense | 1/1 | - | 1 |
11-3239932-C-A | c.112G>T | p.G38C | Missense | 1/1 | - | 1 |
11-3239933-G-A | c.111C>T | p.L37= | Synonymous | 1/1 | - | 1 |
11-3239933-G-C | c.111C>G | p.L37= | Synonymous | 1/1 | - | 1 |
11-3239933-G-T | c.111C>A | p.L37= | Synonymous | 1/1 | - | 1 |
11-3239935-G-A | c.109C>T | p.L37F | Missense | 1/1 | - | 1 |
11-3239944-GCAC-G | c.97_99del | p.V33del | InFrameDeletion | 1/1 | - | 1 |
11-3239950-G-C | c.94C>G | p.L32V | Missense | 1/1 | - | 1 |
11-3239951-CCC-ACA | c.91_93delinsTGT | p.G31C | Missense | 1/1 | - | 1 |
11-3239962-C-T | c.82G>A | p.V28I | Missense | 1/1 | - | 2 |
11-3239963-C-T | c.81G>A | p.P27= | Synonymous | 1/1 | - | 1 |
11-3239964-G-A | c.80C>T | p.P27L | Missense | 1/1 | - | 2 |
11-3239965-G-A | c.79C>T | p.P27S | Missense | 1/1 | - | 1 |
11-3239966-T-A | c.78A>T | p.G26= | Synonymous | 1/1 | - | 1 |
11-3239968-C-G | c.76G>C | p.G26R | Missense | 1/1 | - | 4 |
11-3239968-C-T | c.76G>A | p.G26R | Missense | 1/1 | - | 3 |
11-3239969-C-T | c.75G>A | p.G25= | Synonymous | 1/1 | - | 1 |
11-3239988-G-C | c.56C>G | p.T19R | Missense | 1/1 | - | 1 |
11-3239992-G-T | c.52C>A | p.L18M | Missense | 1/1 | - | 1 |
11-3240001-C-T | c.43G>A | p.V15I | Missense | 1/1 | - | 3 |
11-3240005-A-T | c.39T>A | p.S13R | Missense | 1/1 | - | 2 |
11-3240010-C-T | c.34G>A | p.D12N | Missense | 1/1 | - | 1 |
11-3240011-G-C | c.33C>G | p.F11L | Missense | 1/1 | - | 1 |
11-3240011-G-T | c.33C>A | p.F11L | Missense | 1/1 | - | 1 |
11-3240013-A-G | c.31T>C | p.F11L | Missense | 1/1 | - | 1 |
11-3240023-G-A | c.21C>T | p.L7= | Synonymous | 1/1 | - | 1 |
11-3240027-C-T | c.17G>A | p.G6D | Missense | 1/1 | - | 2 |
11-3240026-GC-G | c.17del | p.G6Afs*13 | Frameshift | 1/1 | - | 2 |