Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
11-116706528-T-G | c.800A>C | p.Q267P | Missense | 4/4 | - | 2 |
11-116706529-G-A | c.799C>T | p.Q267* | Nonsense | 4/4 | - | 1 |
11-116706529-G-C | c.799C>G | p.Q267E | Missense | 4/4 | - | 2 |
11-116706531-G-GTGT | c.794_796dup | p.N265dup | InFrameInsertion | 4/4 | - | 1 |
11-116706535-T-G | c.793A>C | p.N265H | Missense | 4/4 | - | 2 |
11-116706539-C-T | c.789G>A | p.K263= | Synonymous | 4/4 | - | 1 |
11-116706542-C-A | c.786G>T | p.K262N | Missense | 4/4 | - | 1 |
11-116706542-C-G | c.786G>C | p.K262N | Missense | 4/4 | - | 1 |
11-116706542-C-T | c.786G>A | p.K262= | Synonymous | 4/4 | - | 3 |
11-116706543-T-C | c.785A>G | p.K262R | Missense | 4/4 | - | 1 |
11-116706546-G-A | c.782C>T | p.T261I | Missense | 4/4 | - | 1 |
11-116706549-T-C | c.779A>G | p.Y260C | Missense | 4/4 | - | 1 |
11-116706552-T-G | c.776A>C | p.E259A | Missense | 4/4 | - | 1 |
11-116706550-ACTC-A | c.775_777del | p.E259del | InFrameDeletion | 4/4 | - | 1 |
11-116706556-C-G | c.772G>C | p.E258Q | Missense | 4/4 | - | 2 |
11-116706558-A-AG | c.769dup | p.L257Pfs*6 | Frameshift | 4/4 | - | 1 |
11-116706562-C-A | c.766G>T | p.A256S | Missense | 4/4 | - | 3 |
11-116706562-C-T | c.766G>A | p.A256T | Missense | 4/4 | - | 3 |
11-116706567-A-C | c.761T>G | p.L254R | Missense | 4/4 | - | 1 |
11-116706573-C-A | c.755G>T | p.S252I | Missense | 4/4 | - | 1 |
11-116706573-CT-AG | c.754_755inv | p.S252L | Missense | 4/4 | - | 1 |
11-116706575-G-A | c.753C>T | p.V251= | Synonymous | 4/4 | - | 1 |
11-116706576-A-T | c.752T>A | p.V251D | Missense | 4/4 | - | 1 |
11-116706577-C-T | c.751G>A | p.V251I | Missense | 4/4 | - | 1 |
11-116706583-A-T | c.745T>A | p.F249I | Missense | 4/4 | - | 1 |
11-116706585-CT-AG | c.742_743inv | p.S248L | Missense | 4/4 | - | 1 |
11-116706589-C-T | c.739G>A | p.E247K | Missense | 4/4 | - | 1 |
11-116706588-TC-T | c.739del | p.E247Rfs*8 | Frameshift | 4/4 | - | 1 |
11-116706590-C-A | c.738G>T | p.L246= | Synonymous | 4/4 | - | 1 |
11-116706590-C-G | c.738G>C | p.L246= | Synonymous | 4/4 | - | 1 |
11-116706590-C-T | c.738G>A | p.L246= | Synonymous | 4/4 | - | 1 |
11-116706592-G-A | c.736C>T | p.L246= | Synonymous | 4/4 | - | 2 |
11-116706596-G-C | c.732C>G | p.P244= | Synonymous | 4/4 | - | 4 |
11-116706597-G-GTGT | c.730_731insACA | p.P244delinsHT | MultiAAMissense | 4/4 | - | 1 |
11-116706601-G-A | c.727C>T | p.L243= | Synonymous | 4/4 | - | 1 |
11-116706601-G-C | c.727C>G | p.L243V | Missense | 4/4 | - | 1 |
11-116706602-C-A | c.726G>T | p.L242= | Synonymous | 4/4 | - | 1 |
11-116706602-C-G | c.726G>C | p.L242= | Synonymous | 4/4 | - | 1 |
11-116706602-C-T | c.726G>A | p.L242= | Synonymous | 4/4 | - | 1 |
11-116706603-A-T | c.725T>A | p.L242Q | Missense | 4/4 | - | 1 |
11-116706604-G-A | c.724C>T | p.L242= | Synonymous | 4/4 | - | 2 |
11-116706604-G-T | c.724C>A | p.L242M | Missense | 4/4 | - | 1 |
11-116706606-C-G | c.722G>C | p.G241A | Missense | 4/4 | - | 1 |
11-116706607-C-G | c.721G>C | p.G241R | Missense | 4/4 | - | 1 |
11-116706608-T-C | c.720A>G | p.Q240= | Synonymous | 4/4 | - | 1 |
11-116706610-G-A | c.718C>T | p.Q240* | Nonsense | 4/4 | - | 3 |
11-116706611-GC-TT | c.716_717delinsAA | p.R239Q | Missense | 4/4 | - | 1 |
11-116706615-A-G | c.713T>C | p.L238P | Missense | 4/4 | - | 2 |
11-116706621-T-A | c.707A>T | p.E236V | Missense | 4/4 | - | 1 |
11-116706622-C-T | c.706G>A | p.E236K | Missense | 4/4 | - | 2 |
11-116706624-AG-GC | c.703_704delinsGC | p.L235A | Missense | 4/4 | - | 1 |
11-116706629-G-A | c.699C>T | p.P233= | Synonymous | 4/4 | - | 1 |
11-116706629-G-C | c.699C>G | p.P233= | Synonymous | 4/4 | - | 1 |
11-116706629-G-T | c.699C>A | p.P233= | Synonymous | 4/4 | - | 2 |
11-116706630-G-A | c.698C>T | p.P233L | Missense | 4/4 | - | 1 |
11-116706637-C-T | c.691G>A | p.A231T | Missense | 4/4 | - | 1 |
11-116706638-C-T | c.690G>A | p.K230= | Synonymous | 4/4 | - | 1 |
11-116706640-T-C | c.688A>G | p.K230E | Missense | 4/4 | - | 1 |
11-116706641-C-A | c.687G>T | p.E229D | Missense | 4/4 | - | 1 |
11-116706641-C-G | c.687G>C | p.E229D | Missense | 4/4 | - | 1 |
11-116706641-C-T | c.687G>A | p.E229= | Synonymous | 4/4 | - | 3 |
11-116706643-C-T | c.685G>A | p.E229K | Missense | 4/4 | - | 1 |
11-116706644-G-C | c.684C>G | p.S228R | Missense | 4/4 | - | 1 |
11-116706644-G-T | c.684C>A | p.S228R | Missense | 4/4 | - | 1 |
11-116706645-C-T | c.683G>A | p.S228N | Missense | 4/4 | - | 2 |
11-116706645-CT-GG | c.682_683delinsCC | p.S228P | Missense | 4/4 | - | 1 |
11-116706646-T-G | c.682A>C | p.S228R | Missense | 4/4 | - | 2 |
11-116706654-C-CA | c.673_674insT | p.S225Mfs*38 | Frameshift | 4/4 | - | 1 |
11-116706655-T-C | c.673A>G | p.S225G | Missense | 4/4 | - | 1 |
11-116706659-A-G | c.669T>C | p.H223= | Synonymous | 4/4 | - | 1 |
11-116706664-C-A | c.664G>T | p.E222* | Nonsense | 4/4 | - | 3 |
11-116706664-C-T | c.664G>A | p.E222K | Missense | 4/4 | - | 6 |
11-116706665-GG-CC | c.662_663inv | p.T221R | Missense | 4/4 | - | 2 |
11-116706666-G-C | c.662C>G | p.T221S | Missense | 4/4 | - | 1 |
11-116706667-T-A | c.661A>T | p.T221S | Missense | 4/4 | - | 1 |
11-116706667-T-C | c.661A>G | p.T221A | Missense | 4/4 | - | 1 |
11-116706668-G-A | c.660C>T | p.A220= | Synonymous | 4/4 | - | 1 |
11-116706668-G-C | c.660C>G | p.A220= | Synonymous | 4/4 | - | 1 |
11-116706668-G-T | c.660C>A | p.A220= | Synonymous | 4/4 | - | 1 |
11-116706670-C-G | c.658G>C | p.A220P | Missense | 4/4 | - | 2 |
11-116706672-T-C | c.656A>G | p.K219R | Missense | 4/4 | - | 2 |
11-116706673-T-TATTCTGAGCACC | c.654_655insGGTGCTCAGAAT | p.A218_K219insGAQN | InFrameInsertion | 4/4 | - | 1 |
11-116706675-G-A | c.653C>T | p.A218V | Missense | 4/4 | - | 1 |
11-116706675-G-T | c.653C>A | p.A218D | Missense | 4/4 | - | 1 |
11-116706680-G-A | c.648C>T | p.Y216= | Synonymous | 4/4 | - | 2 |
11-116706685-C-G | c.643G>C | p.E215Q | Missense | 4/4 | - | 2 |
11-116706697-C-A | c.631G>T | p.A211S | Missense | 4/4 | - | 1 |
11-116706698-G-A | c.630C>T | p.G210= | Synonymous | 4/4 | - | 1 |
11-116706698-G-C | c.630C>G | p.G210= | Synonymous | 4/4 | - | 1 |
11-116706698-G-T | c.630C>A | p.G210= | Synonymous | 4/4 | - | 1 |
11-116706700-C-T | c.628G>A | p.G210S | Missense | 4/4 | - | 2 |
11-116706702-C-G | c.626G>C | p.G209A | Missense | 4/4 | - | 1 |
11-116706703-C-G | c.625G>C | p.G209R | Missense | 4/4 | - | 1 |
11-116706703-C-T | c.625G>A | p.G209S | Missense | 4/4 | - | 2 |
11-116706704-G-A | c.624C>T | p.N208= | Synonymous | 4/4 | - | 1 |
11-116706706-T-A | c.622A>T | p.N208Y | Missense | 4/4 | - | 1 |
11-116706707-C-A | c.621G>T | p.E207D | Missense | 4/4 | - | 2 |
11-116706707-C-G | c.621G>C | p.E207D | Missense | 4/4 | - | 1 |
11-116706708-T-C | c.620A>G | p.E207G | Missense | 4/4 | - | 1 |
11-116706709-C-T | c.619G>A | p.E207K | Missense | 4/4 | - | 3 |
11-116706710-C-CCA | c.617_618insTG | p.K206Nfs*20 | Frameshift | 4/4 | - | 1 |
11-116706710-C-T | c.618G>A | p.K206= | Synonymous | 4/4 | - | 1 |
11-116706710-CTT-ACA | c.616_618delinsTGT | p.K206C | Missense | 4/4 | - | 1 |
11-116706711-T-C | c.617A>G | p.K206R | Missense | 4/4 | - | 2 |
11-116706712-T-TC | c.615_616insG | p.K206Efs*57 | Frameshift | 4/4 | - | 1 |
11-116706715-G-C | c.613C>G | p.L205V | Missense | 4/4 | - | 2 |
11-116706717-G-A | c.611C>T | p.A204V | Missense | 4/4 | - | 1 |
11-116706718-C-A | c.610G>T | p.A204S | Missense | 4/4 | - | 1 |
11-116706723-A-C | c.605T>G | p.L202R | Missense | 4/4 | - | 1 |
11-116706723-A-G | c.605T>C | p.L202P | Missense | 4/4 | - | 2 |
11-116706725-GC-TT | c.602_603delinsAA | p.R201Q | Missense | 4/4 | - | 1 |
11-116706726-C-T | c.602G>A | p.R201H | Missense | 4/4 | - | 2 |
11-116706726-GC-G | c.602del | p.R201Pfs*24 | Frameshift | 4/4 | - | 1 |
11-116706727-G-C | c.601C>G | p.R201G | Missense | 4/4 | - | 2 |
11-116706727-G-T | c.601C>A | p.R201S | Missense | 4/4 | - | 1 |
11-116706731-G-T | c.597C>A | p.A199= | Synonymous | 4/4 | - | 1 |
11-116706733-C-G | c.595G>C | p.A199P | Missense | 4/4 | - | 3 |
11-116706733-C-T | c.595G>A | p.A199T | Missense | 4/4 | - | 3 |
11-116706735-A-G | c.593T>C | p.L198S | Missense | 4/4 | - | 3 |
11-116706736-AAGCG-A | c.589_592del | p.R197Wfs*27 | Frameshift | 4/4 | - | 1 |
11-116706739-G-A | c.589C>T | p.R197C | Missense | 4/4 | - | 4 |
11-116706739-G-T | c.589C>A | p.R197S | Missense | 4/4 | - | 2 |
11-116706743-GC-TT | c.584_585delinsAA | p.R195Q | Missense | 4/4 | - | 1 |
11-116706747-A-G | c.581T>C | p.L194P | Missense | 4/4 | - | 1 |
11-116706749-C-A | c.579G>T | p.E193D | Missense | 4/4 | - | 1 |
11-116706749-C-G | c.579G>C | p.E193D | Missense | 4/4 | - | 1 |
11-116706751-C-A | c.577G>T | p.E193* | Nonsense | 4/4 | - | 1 |
11-116706751-C-T | c.577G>A | p.E193K | Missense | 4/4 | - | 3 |
11-116706754-C-T | c.574G>A | p.D192N | Missense | 4/4 | - | 1 |
11-116706755-G-A | c.573C>T | p.S191= | Synonymous | 4/4 | - | 1 |
11-116706756-C-T | c.572G>A | p.S191N | Missense | 4/4 | - | 2 |
11-116706759-T-C | c.569A>G | p.Y190C | Missense | 4/4 | - | 1 |
11-116706762-G-C | c.566C>G | p.P189R | Missense | 4/4 | - | 6 |
11-116706765-G-A | c.563C>T | p.A188V | Missense | 4/4 | - | 1 |
11-116706765-G-C | c.563C>G | p.A188G | Missense | 4/4 | - | 1 |
11-116706765-G-T | c.563C>A | p.A188D | Missense | 4/4 | - | 1 |
11-116706766-C-A | c.562G>T | p.A188S | Missense | 4/4 | - | 4 |
11-116706766-C-G | c.562G>C | p.A188P | Missense | 4/4 | - | 1 |
11-116706768-A-C | c.560T>G | p.L187R | Missense | 4/4 | - | 1 |
11-116706774-G-C | c.554C>G | p.T185R | Missense | 4/4 | - | 1 |
11-116706775-T-A | c.553A>T | p.T185S | Missense | 4/4 | - | 1 |
11-116706776-GC-TT | c.551_552delinsAA | p.R184Q | Missense | 4/4 | - | 1 |
11-116706777-C-A | c.551G>T | p.R184L | Missense | 4/4 | - | 3 |
11-116706777-C-G | c.551G>C | p.R184P | Missense | 4/4 | - | 4 |
11-116706789-A-T | c.539T>A | p.V180E | Missense | 4/4 | - | 3 |
11-116706792-T-G | c.536A>C | p.H179P | Missense | 4/4 | - | 1 |
11-116706792-TG-T | c.535del | p.H179Mfs*46 | Frameshift | 4/4 | - | 2 |
11-116706798-C-T | c.530G>A | p.R177H | Missense | 4/4 | - | 1 |
11-116706799-G-A | c.529C>T | p.R177C | Missense | 4/4 | - | 4 |
11-116706799-G-T | c.529C>A | p.R177S | Missense | 4/4 | - | 1 |
11-116706800-C-A | c.528G>T | p.A176= | Synonymous | 4/4 | - | 1 |
11-116706800-C-G | c.528G>C | p.A176= | Synonymous | 4/4 | - | 1 |
11-116706800-C-T | c.528G>A | p.A176= | Synonymous | 4/4 | - | 2 |
11-116706795-GCGCGCGCGCGGT-G | c.521_532del | p.D174_R177del | InFrameDeletion | 4/4 | - | 1 |
11-116706801-G-A | c.527C>T | p.A176V | Missense | 4/4 | - | 1 |
11-116706802-C-G | c.526G>C | p.A176P | Missense | 4/4 | - | 1 |
11-116706802-C-T | c.526G>A | p.A176T | Missense | 4/4 | - | 2 |
11-116706805-G-A | c.523C>T | p.R175C | Missense | 4/4 | - | 1 |
11-116706805-G-T | c.523C>A | p.R175S | Missense | 4/4 | - | 1 |
11-116706810-C-G | c.518G>C | p.R173P | Missense | 4/4 | - | 11 |
11-116706810-C-T | c.518G>A | p.R173H | Missense | 4/4 | - | 3 |
11-116706811-G-A | c.517C>T | p.R173C | Missense | 4/4 | - | 8 |
11-116706811-G-T | c.517C>A | p.R173S | Missense | 4/4 | - | 2 |
11-116706814-T-C | c.514A>G | p.M172V | Missense | 4/4 | - | 1 |
11-116706815-C-A | c.513G>T | p.E171D | Missense | 4/4 | - | 1 |
11-116706815-C-G | c.513G>C | p.E171D | Missense | 4/4 | - | 1 |
11-116706816-T-A | c.512A>T | p.E171V | Missense | 4/4 | - | 2 |
11-116706817-C-A | c.511G>T | p.E171* | Nonsense | 4/4 | - | 1 |
11-116706817-C-T | c.511G>A | p.E171K | Missense | 4/4 | - | 5 |
11-116706820-C-T | c.508G>A | p.E170K | Missense | 4/4 | - | 1 |
11-116706822-C-A | c.506G>T | p.G169V | Missense | 4/4 | - | 1 |
11-116706824-C-A | c.504G>T | p.L168= | Synonymous | 4/4 | - | 1 |
11-116706824-C-G | c.504G>C | p.L168= | Synonymous | 4/4 | - | 1 |
11-116706824-C-T | c.504G>A | p.L168= | Synonymous | 4/4 | - | 1 |
11-116706825-A-C | c.503T>G | p.L168R | Missense | 4/4 | - | 3 |
11-116706825-A-G | c.503T>C | p.L168P | Missense | 4/4 | - | 2 |
11-116706826-G-A | c.502C>T | p.L168= | Synonymous | 4/4 | - | 2 |
11-116706828-G-A | c.500C>T | p.P167L | Missense | 4/4 | - | 1 |
11-116706828-G-C | c.500C>G | p.P167R | Missense | 4/4 | - | 3 |
11-116706829-G-C | c.499C>G | p.P167A | Missense | 4/4 | - | 1 |
11-116706830-G-T | c.498C>A | p.S166R | Missense | 4/4 | - | 2 |
11-116706831-C-T | c.497G>A | p.S166N | Missense | 4/4 | - | 1 |
11-116706834-A-C | c.494T>G | p.L165R | Missense | 4/4 | - | 2 |
11-116706836-C-G | c.492G>C | p.K164N | Missense | 4/4 | - | 1 |
11-116706836-C-T | c.492G>A | p.K164= | Synonymous | 4/4 | - | 1 |
11-116706840-T-A | c.488A>T | p.E163V | Missense | 4/4 | - | 1 |
11-116706840-T-C | c.488A>G | p.E163G | Missense | 4/4 | - | 2 |
11-116706843-T-C | c.485A>G | p.Q162R | Missense | 4/4 | - | 1 |
11-116706843-T-G | c.485A>C | p.Q162P | Missense | 4/4 | - | 3 |
11-116706845-C-A | c.483G>T | p.L161= | Synonymous | 4/4 | - | 1 |
11-116706845-C-G | c.483G>C | p.L161= | Synonymous | 4/4 | - | 1 |
11-116706845-C-T | c.483G>A | p.L161= | Synonymous | 4/4 | - | 1 |
11-116706847-G-A | c.481C>T | p.L161= | Synonymous | 4/4 | - | 1 |
11-116706848-C-A | c.480G>T | p.E160D | Missense | 4/4 | - | 1 |
11-116706850-C-G | c.478G>C | p.E160Q | Missense | 4/4 | - | 2 |
11-116706850-C-T | c.478G>A | p.E160K | Missense | 4/4 | - | 5 |
11-116706851-G-C | c.477C>G | p.H159Q | Missense | 4/4 | - | 2 |
11-116706851-G-T | c.477C>A | p.H159Q | Missense | 4/4 | - | 1 |
11-116706852-T-C | c.476A>G | p.H159R | Missense | 4/4 | - | 1 |
11-116706854-C-A | c.474G>T | p.L158= | Synonymous | 4/4 | - | 1 |
11-116706854-C-G | c.474G>C | p.L158= | Synonymous | 4/4 | - | 1 |
11-116706854-C-T | c.474G>A | p.L158= | Synonymous | 4/4 | - | 2 |
11-116706856-G-A | c.472C>T | p.L158= | Synonymous | 4/4 | - | 1 |
11-116706855-A-G | c.473T>C | p.L158P | Missense | 4/4 | - | 1 |
11-116706857-C-T | c.471G>A | p.K157= | Synonymous | 4/4 | - | 1 |
11-116706858-T-C | c.470A>G | p.K157R | Missense | 4/4 | - | 1 |
11-116706857-C-CTTG | c.470_471insCAA | p.Q156_K157insN | InFrameInsertion | 4/4 | - | 1 |
11-116706860-C-T | c.468G>A | p.Q156= | Synonymous | 4/4 | - | 2 |
11-116706861-T-C | c.467A>G | p.Q156R | Missense | 4/4 | - | 1 |
11-116706862-G-C | c.466C>G | p.Q156E | Missense | 4/4 | - | 1 |
11-116706862-G-T | c.466C>A | p.Q156K | Missense | 4/4 | - | 1 |
11-116706861-TG-T | c.466del | p.Q156Rfs*10 | Frameshift | 4/4 | - | 1 |
11-116706864-C-A | c.464G>T | p.R155L | Missense | 4/4 | - | 1 |
11-116706864-C-T | c.464G>A | p.R155H | Missense | 4/4 | - | 1 |
11-116706865-G-T | c.463C>A | p.R155S | Missense | 4/4 | - | 1 |
11-116706866-C-A | c.462G>T | p.A154= | Synonymous | 4/4 | - | 2 |
11-116706866-C-G | c.462G>C | p.A154= | Synonymous | 4/4 | - | 2 |
11-116706866-C-T | c.462G>A | p.A154= | Synonymous | 4/4 | - | 2 |
11-116706867-G-A | c.461C>T | p.A154V | Missense | 4/4 | - | 1 |
11-116706870-C-T | c.458G>A | p.G153D | Missense | 4/4 | - | 1 |
11-116706874-C-G | c.454G>C | p.E152Q | Missense | 4/4 | - | 1 |
11-116706874-C-T | c.454G>A | p.E152K | Missense | 4/4 | - | 3 |
11-116706875-T-C | c.453A>G | p.Q151= | Synonymous | 4/4 | - | 1 |
11-116706877-G-A | c.451C>T | p.Q151* | Nonsense | 4/4 | - | 1 |
11-116706880-G-T | c.448C>A | p.L150I | Missense | 4/4 | - | 1 |
11-116706887-GC-TT | c.440_441delinsAA | p.R147Q | Missense | 4/4 | - | 1 |
11-116706889-G-A | c.439C>T | p.R147C | Missense | 4/4 | - | 1 |
11-116706890-C-A | c.438G>T | p.L146= | Synonymous | 4/4 | - | 1 |
11-116706890-C-G | c.438G>C | p.L146= | Synonymous | 4/4 | - | 1 |
11-116706890-C-T | c.438G>A | p.L146= | Synonymous | 4/4 | - | 1 |
11-116706892-G-A | c.436C>T | p.L146= | Synonymous | 4/4 | - | 1 |
11-116706893-C-A | c.435G>T | p.P145= | Synonymous | 4/4 | - | 1 |
11-116706893-C-G | c.435G>C | p.P145= | Synonymous | 4/4 | - | 1 |
11-116706895-G-C | c.433C>G | p.P145A | Missense | 4/4 | - | 1 |
11-116706898-C-T | c.430G>A | p.E144K | Missense | 4/4 | - | 1 |
11-116706902-C-T | c.426G>A | p.K142= | Synonymous | 4/4 | - | 1 |
11-116706903-T-C | c.425A>G | p.K142R | Missense | 4/4 | - | 2 |
11-116706905-C-T | c.423G>A | p.Q141= | Synonymous | 4/4 | - | 1 |
11-116706910-G-A | c.418C>T | p.R140C | Missense | 4/4 | - | 3 |
11-116706910-G-T | c.418C>A | p.R140S | Missense | 4/4 | - | 1 |
11-116706913-A-G | c.415T>C | p.Y139H | Missense | 4/4 | - | 2 |
11-116706916-G-C | c.412C>G | p.L138V | Missense | 4/4 | - | 1 |
11-116706917-C-A | c.411G>T | p.E137D | Missense | 4/4 | - | 1 |
11-116706917-C-G | c.411G>C | p.E137D | Missense | 4/4 | - | 1 |
11-116706917-C-T | c.411G>A | p.E137= | Synonymous | 4/4 | - | 2 |
11-116706919-C-A | c.409G>T | p.E137* | Nonsense | 4/4 | - | 1 |
11-116706923-C-A | c.405G>T | p.E135D | Missense | 4/4 | - | 1 |
11-116706923-C-G | c.405G>C | p.E135D | Missense | 4/4 | - | 1 |
11-116706926-C-T | c.402G>A | p.E134= | Synonymous | 4/4 | - | 1 |
11-116706927-T-G | c.401A>C | p.E134A | Missense | 4/4 | - | 3 |
11-116706928-C-T | c.400G>A | p.E134K | Missense | 4/4 | - | 1 |
11-116706932-C-G | c.396G>C | p.W132C | Missense | 4/4 | - | 3 |
11-116706931-GCCA-G | c.394_396del | p.W132del | InFrameDeletion | 4/4 | - | 1 |
11-116706934-A-G | c.394T>C | p.W132R | Missense | 4/4 | - | 1 |
11-116706934-A-T | c.394T>A | p.W132R | Missense | 4/4 | - | 1 |
11-116706935-C-T | c.393G>A | p.K131= | Synonymous | 4/4 | - | 1 |
11-116706936-T-A | c.392A>T | p.K131M | Missense | 4/4 | - | 7 |
11-116706936-TT-CA | c.391_392delinsTG | p.K131W | Missense | 4/4 | - | 1 |
11-116706937-T-A | c.391A>T | p.K131* | Nonsense | 4/4 | - | 2 |
11-116706938-C-T | c.390G>A | p.K130= | Synonymous | 4/4 | - | 1 |
11-116706934-ACTT-A | c.391_393del | p.K131del | InFrameDeletion | 4/4 | - | 10 |
11-116706940-T-C | c.388A>G | p.K130E | Missense | 4/4 | - | 1 |
11-116706941-C-G | c.387G>C | p.Q129H | Missense | 4/4 | - | 1 |
11-116706942-T-G | c.386A>C | p.Q129P | Missense | 4/4 | - | 3 |
11-116706946-A-T | c.382T>A | p.F128I | Missense | 4/4 | - | 1 |
11-116706948-TC-CT | c.379_380delinsAG | p.D127S | Missense | 4/4 | - | 1 |
11-116706949-C-T | c.379G>A | p.D127N | Missense | 4/4 | - | 1 |
11-116706951-T-C | c.377A>G | p.D126G | Missense | 4/4 | - | 2 |
11-116706952-C-G | c.376G>C | p.D126H | Missense | 4/4 | - | 4 |
11-116706957-T-TA | c.370dup | p.Y124Lfs*80 | Frameshift | 4/4 | - | 1 |
11-116706959-G-A | c.369C>T | p.P123= | Synonymous | 4/4 | - | 1 |
11-116706959-G-C | c.369C>G | p.P123= | Synonymous | 4/4 | - | 1 |
11-116706959-G-T | c.369C>A | p.P123= | Synonymous | 4/4 | - | 1 |
11-116706961-G-A | c.367C>T | p.P123S | Missense | 4/4 | - | 2 |
11-116706961-G-T | c.367C>A | p.P123T | Missense | 4/4 | - | 2 |
11-116706966-A-G | c.362T>C | p.V121A | Missense | 4/4 | - | 1 |
11-116706969-T-C | c.359A>G | p.K120R | Missense | 4/4 | - | 1 |
11-116706972-G-T | c.356C>A | p.A119D | Missense | 4/4 | - | 1 |
11-116706973-C-A | c.355G>T | p.A119S | Missense | 4/4 | - | 2 |
11-116706974-C-T | c.354G>A | p.K118= | Synonymous | 4/4 | - | 1 |
11-116706978-CACCTCCTCCAGATCCT-C | c.335_350del | p.K112Rfs*49 | Frameshift | 4/4 | - | 1 |
11-116706983-C-T | c.345G>A | p.E115= | Synonymous | 4/4 | - | 1 |
11-116706985-C-A | c.343G>T | p.E115* | Nonsense | 4/4 | - | 1 |
11-116706987-A-G | c.341T>C | p.L114P | Missense | 4/4 | - | 2 |
11-116706989-A-C | c.339T>G | p.D113E | Missense | 4/4 | - | 2 |
11-116706989-A-T | c.339T>A | p.D113E | Missense | 4/4 | - | 1 |
11-116706992-C-T | c.336G>A | p.K112= | Synonymous | 4/4 | - | 1 |
11-116706995-G-C | c.333C>G | p.S111R | Missense | 4/4 | - | 1 |
11-116706995-G-T | c.333C>A | p.S111R | Missense | 4/4 | - | 1 |
11-116706997-T-G | c.331A>C | p.S111R | Missense | 4/4 | - | 1 |
11-116706996-C-T | c.332G>A | p.S111N | Missense | 4/4 | - | 1 |
11-116706998-C-A | c.330G>T | p.M110I | Missense | 4/4 | - | 3 |
11-116706998-C-G | c.330G>C | p.M110I | Missense | 4/4 | - | 4 |
11-116706998-C-T | c.330G>A | p.M110I | Missense | 4/4 | - | 3 |
11-116707001-C-A | c.327G>T | p.E109D | Missense | 4/4 | - | 1 |
11-116707001-C-G | c.327G>C | p.E109D | Missense | 4/4 | - | 1 |
11-116707001-C-T | c.327G>A | p.E109= | Synonymous | 4/4 | - | 1 |
11-116707001-C-CT | c.326dup | p.M110Dfs*94 | Frameshift | 4/4 | - | 1 |
11-116707002-CT-C | c.326del | p.E109Gfs*2 | Frameshift | 4/4 | - | 1 |
11-116707007-CCT-ATG | c.319_321delinsCAT | p.R107H | Missense | 4/4 | - | 1 |
11-116707007-C-G | c.321G>C | p.R107S | Missense | 4/4 | - | 1 |
11-116707008-C-A | c.320G>T | p.R107M | Missense | 4/4 | - | 1 |
11-116707012-G-A | c.316C>T | p.L106= | Synonymous | 4/4 | - | 1 |
11-116707013-G-A | c.315C>T | p.G105= | Synonymous | 4/4 | - | 3 |
11-116707013-G-C | c.315C>G | p.G105= | Synonymous | 4/4 | - | 1 |
11-116707013-GCC-CCA | c.313_315delinsTGG | p.G105W | Missense | 4/4 | - | 1 |
11-116707013-G-T | c.315C>A | p.G105= | Synonymous | 4/4 | - | 3 |
11-116707015-C-A | c.313G>T | p.G105C | Missense | 4/4 | - | 1 |
11-116707018-C-G | c.310G>C | p.E104Q | Missense | 4/4 | - | 1 |
11-116707018-C-T | c.310G>A | p.E104K | Missense | 4/4 | - | 3 |
11-116707024-C-T | c.304G>A | p.E102K | Missense | 4/4 | - | 2 |
11-116707029-T-A | c.299A>T | p.E100V | Missense | 4/4 | - | 5 |
11-116707032-A-G | c.296T>C | p.L99P | Missense | 4/4 | - | 3 |
11-116707039-C-G | c.289G>C | p.D97H | Missense | 4/4 | - | 1 |
11-116707039-C-T | c.289G>A | p.D97N | Missense | 4/4 | - | 1 |
11-116707040-C-T | c.288G>A | p.W96* | Nonsense | 4/4 | - | 4 |
11-116707041-C-T | c.287G>A | p.W96* | Nonsense | 4/4 | - | 2 |
11-116707044-A-T | c.284T>A | p.F95Y | Missense | 4/4 | - | 7 |
11-116707048-C-T | c.280G>A | p.E94K | Missense | 4/4 | - | 4 |
11-116707049-C-T | c.279G>A | p.Q93= | Synonymous | 4/4 | - | 1 |
11-116707050-T-C | c.278A>G | p.Q93R | Missense | 4/4 | - | 3 |
11-116707051-G-A | c.277C>T | p.Q93* | Nonsense | 4/4 | - | 1 |
11-116707053-G-A | c.275C>T | p.T92I | Missense | 4/4 | - | 3 |
11-116707054-T-C | c.274A>G | p.T92A | Missense | 4/4 | - | 1 |
11-116707058-CAGG-C | c.268_270del | p.P90del | InFrameDeletion | 4/4 | - | 1 |
11-116707060-G-A | c.268C>T | p.P90S | Missense | 4/4 | - | 3 |
11-116707067-C-A | c.261G>T | p.Q87H | Missense | 4/4 | - | 1 |
11-116707067-C-T | c.261G>A | p.Q87= | Synonymous | 4/4 | - | 1 |
11-116707069-G-A | c.259C>T | p.Q87* | Nonsense | 4/4 | - | 1 |
11-116707072-C-T | c.256G>A | p.E86K | Missense | 4/4 | - | 3 |
11-116707072-C-CG | c.255dup | p.E86Rfs*13 | Frameshift | 4/4 | - | 1 |
11-116707074-C-T | c.254G>A | p.R85H | Missense | 4/4 | - | 4 |
11-116707077-A-C | c.251T>G | p.L84R | Missense | 4/4 | - | 1 |
11-116707077-A-G | c.251T>C | p.L84P | Missense | 4/4 | - | 1 |
11-116707079-C-T | c.249G>A | p.K83= | Synonymous | 4/4 | - | 1 |
11-116707093-A-G | c.235T>C | p.S79P | Missense | 4/4 | - | 2 |
11-116707095-G-A | c.233C>T | p.T78I | Missense | 4/4 | - | 1 |
11-116707098-A-G | c.230T>C | p.V77A | Missense | 4/4 | - | 1 |
11-116707099-C-T | c.229G>A | p.V77M | Missense | 4/4 | - | 1 |
11-116707100-G-A | c.228C>T | p.S76= | Synonymous | 4/4 | - | 1 |
11-116707101-C-T | c.227G>A | p.S76N | Missense | 4/4 | - | 1 |
11-116707102-CT-C | c.226del | p.S76Afs*2 | Frameshift | 4/4 | - | 1 |
11-116707104-T-C | c.224A>G | p.D75G | Missense | 4/4 | - | 1 |
11-116707106-C-A | c.222G>T | p.W74C | Missense | 4/4 | - | 1 |
11-116707106-C-G | c.222G>C | p.W74C | Missense | 4/4 | - | 1 |
11-116707106-C-T | c.222G>A | p.W74* | Nonsense | 4/4 | - | 2 |
11-116707107-C-A | c.221G>T | p.W74L | Missense | 4/4 | - | 1 |
11-116707108-A-G | c.220T>C | p.W74R | Missense | 4/4 | - | 3 |
11-116707108-A-T | c.220T>A | p.W74R | Missense | 4/4 | - | 1 |
11-116707110-T-C | c.218A>G | p.N73S | Missense | 4/4 | - | 1 |
11-116707112-G-A | c.216C>T | p.D72= | Synonymous | 4/4 | - | 1 |
11-116707117-G-A | c.211C>T | p.L71F | Missense | 4/4 | - | 1 |
11-116707117-G-T | c.211C>A | p.L71I | Missense | 4/4 | - | 1 |
11-116707125-A-T | c.203T>A | p.L68Q | Missense | 4/4 | - | 1 |
11-116707127-G-T | c.201C>A | p.N67K | Missense | 4/4 | - | 1 |
11-116707513-C-T | c.200+204G>A | - | IntronicSNV | - | 3/3 | 1 |
11-116707514-G-A | c.200+203C>T | - | IntronicSNV | - | 3/3 | 1 |
11-116707518-C-T | c.200+199G>A | - | IntronicSNV | - | 3/3 | 1 |
11-116707583-A-G | c.200+134T>C | - | IntronicSNV | - | 3/3 | 3 |
11-116707629-A-G | c.200+88T>C | - | IntronicSNV | - | 3/3 | 1 |
11-116707684-A-G | c.200+33T>C | - | IntronicSNV | - | 3/3 | 3 |
11-116707716-C-G | c.200+1G>C | - | IntronicSNV | - | 3/3 | 1 |
11-116707719-T-A | c.198A>T | p.L66= | Synonymous | 3/4 | - | 2 |
11-116707719-T-C | c.198A>G | p.L66= | Synonymous | 3/4 | - | 2 |
11-116707719-T-G | c.198A>C | p.L66= | Synonymous | 3/4 | - | 2 |
11-116707721-G-A | c.196C>T | p.L66= | Synonymous | 3/4 | - | 2 |
11-116707722-C-T | c.195G>A | p.Q65= | Synonymous | 3/4 | - | 1 |
11-116707725-T-C | c.192A>G | p.K64= | Synonymous | 3/4 | - | 1 |
11-116707727-T-C | c.190A>G | p.K64E | Missense | 3/4 | - | 2 |
11-116707729-C-T | c.188G>A | p.G63E | Missense | 3/4 | - | 2 |
11-116707730-C-T | c.187G>A | p.G63R | Missense | 3/4 | - | 1 |
11-116707728-TC-T | c.188del | p.G63Efs*4 | Frameshift | 3/4 | - | 1 |
11-116707736-C-T | c.181G>A | p.A61T | Missense | 3/4 | - | 15 |
11-116707737-G-A | c.180C>T | p.S60= | Synonymous | 3/4 | - | 1 |
11-116707738-G-A | c.179C>T | p.S60F | Missense | 3/4 | - | 5 |
11-116707739-A-C | c.178T>G | p.S60A | Missense | 3/4 | - | 6 |
11-116707739-A-G | c.178T>C | p.S60P | Missense | 3/4 | - | 2 |
11-116707744-T-A | c.173A>T | p.E58V | Missense | 3/4 | - | 1 |
11-116707745-C-T | c.172G>A | p.E58K | Missense | 3/4 | - | 2 |
11-116707746-A-G | c.171T>C | p.F57= | Synonymous | 3/4 | - | 1 |
11-116707748-A-T | c.169T>A | p.F57I | Missense | 3/4 | - | 1 |
11-116707749-C-G | c.168G>C | p.Q56H | Missense | 3/4 | - | 1 |
11-116707749-C-T | c.168G>A | p.Q56= | Synonymous | 3/4 | - | 1 |
11-116707750-T-A | c.167A>T | p.Q56L | Missense | 3/4 | - | 1 |
11-116707759-T-C | c.158A>G | p.Y53C | Missense | 3/4 | - | 1 |
11-116707761-G-A | c.156C>T | p.D52= | Synonymous | 3/4 | - | 3 |
11-116707763-C-G | c.154G>C | p.D52H | Missense | 3/4 | - | 1 |
11-116707764-T-C | c.153A>G | p.R51= | Synonymous | 3/4 | - | 1 |
11-116707764-TCT-ACA | c.151_153delinsTGT | p.R51C | Missense | 3/4 | - | 1 |
11-116707766-T-G | c.151A>C | p.R51= | Synonymous | 3/4 | - | 1 |
11-116707768-C-A | c.149G>T | p.G50V | Missense | 3/4 | - | 3 |
11-116707769-C-A | c.148G>T | p.G50C | Missense | 3/4 | - | 1 |
11-116707769-C-G | c.148G>C | p.G50R | Missense | 3/4 | - | 1 |
11-116707769-C-T | c.148G>A | p.G50S | Missense | 3/4 | - | 3 |
11-116707771-C-A | c.146G>T | p.S49I | Missense | 3/4 | - | 1 |
11-116707771-C-T | c.146G>A | p.S49N | Missense | 3/4 | - | 2 |
11-116707772-T-G | c.145A>C | p.S49R | Missense | 3/4 | - | 2 |
11-116707776-T-C | c.141A>G | p.K47= | Synonymous | 3/4 | - | 1 |
11-116707779-G-A | c.138C>T | p.L46= | Synonymous | 3/4 | - | 1 |
11-116707781-G-C | c.136C>G | p.L46V | Missense | 3/4 | - | 1 |
11-116707781-G-T | c.136C>A | p.L46I | Missense | 3/4 | - | 1 |
11-116707783-A-G | c.134T>C | p.V45A | Missense | 3/4 | - | 1 |
11-116707784-C-T | c.133G>A | p.V45M | Missense | 3/4 | - | 1 |
11-116707787-C-T | c.130G>A | p.D44N | Missense | 3/4 | - | 1 |
11-116707790-C-G | c.127G>C | p.V43L | Missense | 3/4 | - | 1 |
11-116707791-G-A | c.126C>T | p.Y42= | Synonymous | 3/4 | - | 2 |
11-116707793-A-G | c.124T>C | p.Y42H | Missense | 3/4 | - | 1 |
11-116707796-C-A | c.121G>T | p.V41L | Missense | 3/4 | - | 2 |
11-116707796-C-G | c.121G>C | p.V41L | Missense | 3/4 | - | 1 |
11-116707801-G-A | c.116C>T | p.A39V | Missense | 3/4 | - | 1 |
11-116707802-C-T | c.115G>A | p.A39T | Missense | 3/4 | - | 1 |
11-116707804-AG-CC | c.112_113delinsGG | p.L38G | Missense | 3/4 | - | 1 |
11-116707809-C-A | c.108G>T | p.K36N | Missense | 3/4 | - | 1 |
11-116707809-C-G | c.108G>C | p.K36N | Missense | 3/4 | - | 1 |
11-116707812-C-A | c.105G>T | p.V35= | Synonymous | 3/4 | - | 1 |
11-116707812-C-G | c.105G>C | p.V35= | Synonymous | 3/4 | - | 1 |
11-116707812-C-T | c.105G>A | p.V35= | Synonymous | 3/4 | - | 1 |
11-116707814-C-A | c.103G>T | p.V35L | Missense | 3/4 | - | 1 |
11-116707814-C-G | c.103G>C | p.V35L | Missense | 3/4 | - | 1 |
11-116707815-TC-AT | c.101_102delinsAT | p.R34H | Missense | 3/4 | - | 1 |
11-116707815-TCG-GCT | c.100_102delinsAGC | p.R34S | Missense | 3/4 | - | 1 |
11-116707816-C-A | c.101G>T | p.R34L | Missense | 3/4 | - | 6 |
11-116707816-C-T | c.101G>A | p.R34Q | Missense | 3/4 | - | 1 |
11-116707817-G-A | c.100C>T | p.R34* | Nonsense | 3/4 | - | 5 |
11-116707819-T-A | c.98A>T | p.D33V | Missense | 3/4 | - | 1 |
11-116707819-TC-AA | c.97_98delinsTT | p.D33F | Missense | 3/4 | - | 1 |
11-116707820-C-A | c.97G>T | p.D33Y | Missense | 3/4 | - | 1 |
11-116707820-C-T | c.97G>A | p.D33N | Missense | 3/4 | - | 2 |
11-116707822-C-T | c.95G>A | p.W32* | Nonsense | 3/4 | - | 1 |
11-116707824-G-A | c.93C>T | p.P31= | Synonymous | 3/4 | - | 1 |
11-116707825-G-A | c.92C>T | p.P31L | Missense | 3/4 | - | 7 |
11-116707826-G-A | c.91C>T | p.P31S | Missense | 3/4 | - | 1 |
11-116707826-G-C | c.91C>G | p.P31A | Missense | 3/4 | - | 2 |
11-116707829-T-C | c.88A>G | p.S30G | Missense | 3/4 | - | 1 |
11-116707830-C-CG | c.86_87insC | p.Q29Hfs*30 | Frameshift | 3/4 | - | 1 |
11-116707831-CT-C | c.86del | p.Q29Rfs*7 | Frameshift | 3/4 | - | 3 |
11-116707834-G-A | c.83C>T | p.P28L | Missense | 3/4 | - | 1 |
11-116707834-G-C | c.83C>G | p.P28R | Missense | 3/4 | - | 6 |
11-116707835-G-A | c.82C>T | p.P28S | Missense | 3/4 | - | 2 |
11-116707836-GGG-CTT | c.79_81delinsAAG | p.P27K | Missense | 3/4 | - | 1 |
11-116707837-G-A | c.80C>T | p.P27L | Missense | 3/4 | - | 1 |
11-116707837-G-C | c.80C>G | p.P27R | Missense | 3/4 | - | 2 |
11-116707837-G-T | c.80C>A | p.P27H | Missense | 3/4 | - | 2 |
11-116707831-TG-T | c.85del | p.Q29Rfs*7 | Frameshift | 3/4 | - | 4 |
11-116707831-T-TG | c.85dup | p.Q29Pfs*30 | Frameshift | 3/4 | - | 4 |
11-116707838-G-A | c.79C>T | p.P27S | Missense | 3/4 | - | 1 |
11-116707838-G-C | c.79C>G | p.P27A | Missense | 3/4 | - | 1 |
11-116707838-G-T | c.79C>A | p.P27T | Missense | 3/4 | - | 2 |
11-116707839-T-A | c.78A>T | p.E26D | Missense | 3/4 | - | 2 |
11-116707839-T-G | c.78A>C | p.E26D | Missense | 3/4 | - | 2 |
11-116707838-GT-G | c.78del | p.E26Dfs*10 | Frameshift | 3/4 | - | 1 |
11-116707841-C-A | c.76G>T | p.E26* | Nonsense | 3/4 | - | 1 |
11-116707841-C-T | c.76G>A | p.E26K | Missense | 3/4 | - | 1 |
11-116707843-T-A | c.74A>T | p.D25V | Missense | 3/4 | - | 1 |
11-116707843-T-C | c.74A>G | p.D25G | Missense | 3/4 | - | 1 |
11-116707844-TC-T | c.73del | p.D25Mfs*11 | Frameshift | 3/4 | - | 1 |
11-116707845-T-A | c.72A>T | p.Q24H | Missense | 3/4 | - | 1 |
11-116707845-T-G | c.72A>C | p.Q24H | Missense | 3/4 | - | 1 |
11-116707850-G-A | c.67C>T | p.Q23* | Nonsense | 3/4 | - | 2 |
11-116707851-C-A | c.66G>T | p.W22C | Missense | 3/4 | - | 1 |
11-116707851-C-G | c.66G>C | p.W22C | Missense | 3/4 | - | 1 |
11-116707854-G-C | c.63C>G | p.F21L | Missense | 3/4 | - | 1 |
11-116707854-G-T | c.63C>A | p.F21L | Missense | 3/4 | - | 1 |
11-116707856-A-G | c.61T>C | p.F21L | Missense | 3/4 | - | 1 |
11-116707861-C-G | c.56G>C | p.R19P | Missense | 3/4 | - | 1 |
11-116707861-CG-TA | c.55_56delinsTA | p.R19* | Nonsense | 3/4 | - | 1 |
11-116707861-C-T | c.56G>A | p.R19Q | Missense | 3/4 | - | 1 |
11-116707862-G-A | c.55C>T | p.R19W | Missense | 3/4 | - | 7 |
11-116707864-G-A | c.53C>T | p.A18V | Missense | 3/4 | - | 1 |
11-116707864-GC-AA | c.52_53delinsTT | p.A18F | Missense | 3/4 | - | 2 |
11-116707865-C-T | c.52G>A | p.A18T | Missense | 3/4 | - | 1 |
11-116707867-T-A | c.50A>T | p.Q17L | Missense | 3/4 | - | 2 |
11-116707869-GC-CA | c.47_48delinsTG | p.S16M | Missense | 3/4 | - | 1 |
11-116707870-CT-GC | c.46_47delinsGC | p.S16A | Missense | 3/4 | - | 1 |
11-116707871-T-A | c.46A>T | p.S16C | Missense | 3/4 | - | 2 |
11-116707873-C-A | c.44G>T | p.G15V | Missense | 3/4 | - | 1 |
11-116707873-C-T | c.44G>A | p.G15E | Missense | 3/4 | - | 3 |
11-116708020-A-G | c.43+41T>C | - | IntronicSNV | - | 2/3 | 2 |
11-116708028-G-A | c.43+33C>T | - | IntronicSNV | - | 2/3 | 1 |
11-116708061-C-A | c.43G>T | p.G15W | Missense | 2/4 | - | 2 |
11-116708063-G-A | c.41C>T | p.T14M | Missense | 2/4 | - | 2 |
11-116708066-AG-GC | c.37_38delinsGC | p.L13A | Missense | 2/4 | - | 3 |
11-116708067-G-A | c.37C>T | p.L13= | Synonymous | 2/4 | - | 1 |
11-116708076-C-T | c.28G>A | p.V10M | Missense | 2/4 | - | 4 |
11-116708081-A-T | c.23T>A | p.L8* | Nonsense | 2/4 | - | 1 |
11-116708092-C-A | c.12G>T | p.A4= | Synonymous | 2/4 | - | 1 |
11-116708092-C-G | c.12G>C | p.A4= | Synonymous | 2/4 | - | 1 |
11-116708092-C-T | c.12G>A | p.A4= | Synonymous | 2/4 | - | 2 |
11-116708093-G-A | c.11C>T | p.A4V | Missense | 2/4 | - | 2 |
11-116708095-A-C | c.9T>G | p.A3= | Synonymous | 2/4 | - | 1 |
11-116708095-A-G | c.9T>C | p.A3= | Synonymous | 2/4 | - | 2 |
11-116708095-A-T | c.9T>A | p.A3= | Synonymous | 2/4 | - | 1 |
11-116708096-G-A | c.8C>T | p.A3V | Missense | 2/4 | - | 1 |
11-116708097-C-G | c.7G>C | p.A3P | Missense | 2/4 | - | 1 |