Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
19-868002-C-T | c.*99G>A | - | 3-UTRSNV | 16/16 | - | 3 |
19-868058-G-A | c.*43C>T | - | 3-UTRSNV | 16/16 | - | 1 |
19-868104-C-T | c.2631G>A | p.P877= | Synonymous | 16/16 | - | 4 |
19-868105-G-A | c.2630C>T | p.P877L | Missense | 16/16 | - | 5 |
19-868105-G-C | c.2630C>G | p.P877R | Missense | 16/16 | - | 4 |
19-868108-C-G | c.2627G>C | p.R876P | Missense | 16/16 | - | 4 |
19-868108-C-T | c.2627G>A | p.R876H | Missense | 16/16 | - | 1 |
19-868113-C-A | c.2622G>T | p.E874D | Missense | 16/16 | - | 1 |
19-868113-C-G | c.2622G>C | p.E874D | Missense | 16/16 | - | 1 |
19-868113-C-T | c.2622G>A | p.E874= | Synonymous | 16/16 | - | 1 |
19-868114-T-A | c.2621A>T | p.E874V | Missense | 16/16 | - | 1 |
19-868114-T-C | c.2621A>G | p.E874G | Missense | 16/16 | - | 1 |
19-868115-C-G | c.2620G>C | p.E874Q | Missense | 16/16 | - | 4 |
19-868115-C-T | c.2620G>A | p.E874K | Missense | 16/16 | - | 23 |
19-868128-G-A | c.2607C>T | p.D869= | Synonymous | 16/16 | - | 4 |
19-868132-A-G | c.2603T>C | p.L868P | Missense | 16/16 | - | 1 |
19-868134-G-A | c.2601C>T | p.S867= | Synonymous | 16/16 | - | 1 |
19-868134-G-C | c.2601C>G | p.S867= | Synonymous | 16/16 | - | 1 |
19-868134-G-T | c.2601C>A | p.S867= | Synonymous | 16/16 | - | 1 |
19-868135-G-A | c.2600C>T | p.S867F | Missense | 16/16 | - | 3 |
19-868135-G-C | c.2600C>G | p.S867C | Missense | 16/16 | - | 1 |
19-868143-G-A | c.2592C>T | p.T864= | Synonymous | 16/16 | - | 1 |
19-868150-G-A | c.2585C>T | p.P862L | Missense | 16/16 | - | 5 |
19-868151-G-A | c.2584C>T | p.P862S | Missense | 16/16 | - | 2 |
19-868157-G-A | c.2578C>T | p.H860Y | Missense | 16/16 | - | 3 |
19-868161-T-A | c.2574A>T | p.T858= | Synonymous | 16/16 | - | 2 |
19-868161-T-C | c.2574A>G | p.T858= | Synonymous | 16/16 | - | 1 |
19-868161-T-G | c.2574A>C | p.T858= | Synonymous | 16/16 | - | 1 |
19-868162-G-A | c.2573C>T | p.T858I | Missense | 16/16 | - | 1 |
19-868170-C-T | c.2565G>A | p.P855= | Synonymous | 16/16 | - | 1 |
19-868171-G-A | c.2564C>T | p.P855L | Missense | 16/16 | - | 1 |
19-868175-C-T | c.2560G>A | p.G854S | Missense | 16/16 | - | 2 |
19-868180-T-C | c.2555A>G | p.Q852R | Missense | 16/16 | - | 1 |
19-868194-G-A | c.2541C>T | p.A847= | Synonymous | 16/16 | - | 1 |
19-868194-G-C | c.2541C>G | p.A847= | Synonymous | 16/16 | - | 1 |
19-868194-G-T | c.2541C>A | p.A847= | Synonymous | 16/16 | - | 1 |
19-868216-G-A | c.2519C>T | p.T840I | Missense | 16/16 | - | 1 |
19-868220-C-T | c.2515G>A | p.V839M | Missense | 16/16 | - | 2 |
19-868227-G-A | c.2508C>T | p.D836= | Synonymous | 16/16 | - | 1 |
19-868231-G-C | c.2504C>G | p.P835R | Missense | 16/16 | - | 1 |
19-868232-G-A | c.2503C>T | p.P835S | Missense | 16/16 | - | 3 |
19-868234-C-T | c.2501G>A | p.G834E | Missense | 16/16 | - | 1 |
19-868236-A-C | c.2499T>G | p.R833= | Synonymous | 16/16 | - | 1 |
19-868236-A-G | c.2499T>C | p.R833= | Synonymous | 16/16 | - | 3 |
19-868236-A-T | c.2499T>A | p.R833= | Synonymous | 16/16 | - | 1 |
19-868249-G-A | c.2486C>T | p.A829V | Missense | 16/16 | - | 2 |
19-868251-C-A | c.2484G>T | p.L828= | Synonymous | 16/16 | - | 1 |
19-868251-C-G | c.2484G>C | p.L828= | Synonymous | 16/16 | - | 1 |
19-868251-C-T | c.2484G>A | p.L828= | Synonymous | 16/16 | - | 1 |
19-868417-G-A | c.2482C>T | p.L828= | Synonymous | 15/16 | - | 2 |
19-868325-C-G | c.2484-74G>C | - | IntronicSNV | - | 15/15 | 1 |
19-868329-G-A | c.2484-78C>T | - | IntronicSNV | - | 15/15 | 1 |
19-868340-G-A | c.2483+76C>T | - | IntronicSNV | - | 15/15 | 4 |
19-868412-G-A | c.2483+4C>T | - | IntronicSNV | - | 15/15 | 1 |
19-868421-G-A | c.2478C>T | p.N826= | Synonymous | 15/16 | - | 1 |
19-868422-T-C | c.2477A>G | p.N826S | Missense | 15/16 | - | 1 |
19-868426-T-C | c.2473A>G | p.K825E | Missense | 15/16 | - | 1 |
19-868430-C-T | c.2469G>A | p.W823* | Nonsense | 15/16 | - | 1 |
19-868431-C-T | c.2468G>A | p.W823* | Nonsense | 15/16 | - | 1 |
19-868438-G-A | c.2461C>T | p.Q821* | Nonsense | 15/16 | - | 1 |
19-868455-G-A | c.2444C>T | p.A815V | Missense | 15/16 | - | 1 |
19-868458-G-A | c.2441C>T | p.T814M | Missense | 15/16 | - | 3 |
19-868464-C-T | c.2435G>A | p.R812K | Missense | 15/16 | - | 1 |
19-868479-A-C | c.2420T>G | p.L807R | Missense | 15/16 | - | 1 |
19-868480-G-A | c.2419C>T | p.L807F | Missense | 15/16 | - | 1 |
19-868484-GG-CA | c.2414_2415delinsTG | p.T805M | Missense | 15/16 | - | 1 |
19-868491-C-T | c.2408G>A | p.C803Y | Missense | 15/16 | - | 1 |
19-868494-C-G | c.2405G>C | p.G802A | Missense | 15/16 | - | 1 |
19-868496-G-A | c.2403C>T | p.C801= | Synonymous | 15/16 | - | 1 |
19-868503-C-T | c.2400-4G>A | - | IntronicSNV | - | 14/15 | 2 |
19-868507-G-T | c.2400-8C>A | - | IntronicSNV | - | 14/15 | 2 |
19-868540-C-A | c.2400-41G>T | - | IntronicSNV | - | 14/15 | 1 |
19-868540-C-G | c.2400-41G>C | - | IntronicSNV | - | 14/15 | 1 |
19-868540-C-T | c.2400-41G>A | - | IntronicSNV | - | 14/15 | 1 |
19-868551-T-C | c.2400-52A>G | - | IntronicSNV | - | 14/15 | 4 |
19-868620-G-A | c.2400-121C>T | - | IntronicSNV | - | 14/15 | 1 |
19-868620-G-C | c.2400-121C>G | - | IntronicSNV | - | 14/15 | 1 |
19-868751-C-A | c.2399+112G>T | - | IntronicSNV | - | 14/15 | 1 |
19-868751-C-T | c.2399+112G>A | - | IntronicSNV | - | 14/15 | 1 |
19-868785-G-A | c.2399+78C>T | - | IntronicSNV | - | 14/15 | 1 |
19-868844-G-A | c.2399+19C>T | - | IntronicSNV | - | 14/15 | 1 |
19-868849-C-T | c.2399+14G>A | - | IntronicSNV | - | 14/15 | 1 |
19-868850-G-A | c.2399+13C>T | - | IntronicSNV | - | 14/15 | 1 |
19-868872-G-A | c.2390C>T | p.A797V | Missense | 14/16 | - | 1 |
19-868874-C-A | c.2388G>T | p.K796N | Missense | 14/16 | - | 1 |
19-868878-CA-GT | c.2383_2384delinsAC | p.C795T | Missense | 14/16 | - | 1 |
19-868882-C-A | c.2380G>T | p.E794* | Nonsense | 14/16 | - | 1 |
19-868882-C-G | c.2380G>C | p.E794Q | Missense | 14/16 | - | 1 |
19-868890-G-A | c.2372C>T | p.P791L | Missense | 14/16 | - | 1 |
19-868892-G-A | c.2370C>T | p.C790= | Synonymous | 14/16 | - | 1 |
19-868897-C-T | c.2365G>A | p.A789T | Missense | 14/16 | - | 1 |
19-868916-C-A | c.2346G>T | p.L782= | Synonymous | 14/16 | - | 1 |
19-868916-C-G | c.2346G>C | p.L782= | Synonymous | 14/16 | - | 1 |
19-868916-C-T | c.2346G>A | p.L782= | Synonymous | 14/16 | - | 1 |
19-868918-G-A | c.2344C>T | p.L782= | Synonymous | 14/16 | - | 1 |
19-868918-G-T | c.2344C>A | p.L782M | Missense | 14/16 | - | 1 |
19-868925-G-A | c.2337C>T | p.I779= | Synonymous | 14/16 | - | 1 |
19-868939-C-A | c.2323G>T | p.G775C | Missense | 14/16 | - | 1 |
19-868940-TG-AT | c.2321_2322delinsAT | p.P774H | Missense | 14/16 | - | 1 |
19-868952-G-A | c.2316-6C>T | - | IntronicSNV | - | 13/15 | 1 |
19-869037-A-G | c.2316-91T>C | - | IntronicSNV | - | 13/15 | 4 |
19-869198-C-T | c.2316-252G>A | - | IntronicSNV | - | 13/15 | 1 |
19-870946-C-G | c.2315+91G>C | - | IntronicSNV | - | 13/15 | 2 |
19-870946-C-T | c.2315+91G>A | - | IntronicSNV | - | 13/15 | 1 |
19-871033-G-A | c.2315+4C>T | - | IntronicSNV | - | 13/15 | 2 |
19-871041-C-T | c.2311G>A | p.A771T | Missense | 13/16 | - | 3 |
19-871042-G-A | c.2310C>T | p.L770= | Synonymous | 13/16 | - | 2 |
19-871042-G-C | c.2310C>G | p.L770= | Synonymous | 13/16 | - | 2 |
19-871042-G-T | c.2310C>A | p.L770= | Synonymous | 13/16 | - | 2 |
19-871044-G-A | c.2308C>T | p.L770F | Missense | 13/16 | - | 2 |
19-871044-G-C | c.2308C>G | p.L770V | Missense | 13/16 | - | 1 |
19-871048-G-A | c.2304C>T | p.D768= | Synonymous | 13/16 | - | 1 |
19-871056-G-A | c.2296C>T | p.Q766* | Nonsense | 13/16 | - | 1 |
19-871066-A-C | c.2286T>G | p.A762= | Synonymous | 13/16 | - | 1 |
19-871066-A-G | c.2286T>C | p.A762= | Synonymous | 13/16 | - | 1 |
19-871066-A-T | c.2286T>A | p.A762= | Synonymous | 13/16 | - | 1 |
19-871072-G-A | c.2280C>T | p.G760= | Synonymous | 13/16 | - | 1 |
19-871072-G-C | c.2280C>G | p.G760= | Synonymous | 13/16 | - | 1 |
19-871072-G-T | c.2280C>A | p.G760= | Synonymous | 13/16 | - | 1 |
19-871073-C-A | c.2279G>T | p.G760V | Missense | 13/16 | - | 1 |
19-871077-G-C | c.2275C>G | p.P759A | Missense | 13/16 | - | 1 |
19-871082-G-A | c.2270C>T | p.T757M | Missense | 13/16 | - | 1 |
19-871091-C-A | c.2261G>T | p.R754L | Missense | 13/16 | - | 1 |
19-871095-C-G | c.2257G>C | p.G753R | Missense | 13/16 | - | 3 |
19-871101-G-A | c.2251C>T | p.Q751* | Nonsense | 13/16 | - | 1 |
19-871106-C-T | c.2246G>A | p.R749H | Missense | 13/16 | - | 2 |
19-871107-G-A | c.2245C>T | p.R749C | Missense | 13/16 | - | 1 |
19-871108-A-C | c.2244T>G | p.L748= | Synonymous | 13/16 | - | 1 |
19-871112-G-A | c.2240C>T | p.P747L | Missense | 13/16 | - | 1 |
19-871115-T-C | c.2237A>G | p.Q746R | Missense | 13/16 | - | 1 |
19-871116-G-A | c.2236C>T | p.Q746* | Nonsense | 13/16 | - | 1 |
19-871123-C-T | c.2229G>A | p.Q743= | Synonymous | 13/16 | - | 2 |
19-871125-G-T | c.2227C>A | p.Q743K | Missense | 13/16 | - | 1 |
19-871129-GCG-TCA | c.2221_2223delinsTGA | p.R741* | Nonsense | 13/16 | - | 1 |
19-871131-G-A | c.2221C>T | p.R741C | Missense | 13/16 | - | 1 |
19-871135-A-C | c.2217T>G | p.V739= | Synonymous | 13/16 | - | 1 |
19-871135-A-G | c.2217T>C | p.V739= | Synonymous | 13/16 | - | 10 |
19-871135-A-T | c.2217T>A | p.V739= | Synonymous | 13/16 | - | 1 |
19-871137-C-G | c.2215G>C | p.V739L | Missense | 13/16 | - | 1 |
19-871144-G-A | c.2208C>T | p.D736= | Synonymous | 13/16 | - | 2 |
19-871146-C-T | c.2206G>A | p.D736N | Missense | 13/16 | - | 1 |
19-871167-G-T | c.2185C>A | p.L729M | Missense | 13/16 | - | 1 |
19-871168-G-A | c.2184C>T | p.S728= | Synonymous | 13/16 | - | 1 |
19-871169-C-A | c.2183G>T | p.S728I | Missense | 13/16 | - | 3 |
19-871169-C-T | c.2183G>A | p.S728N | Missense | 13/16 | - | 1 |
19-871187-C-G | c.2165G>C | p.S722T | Missense | 13/16 | - | 1 |
19-871189-TGGG-T | c.2161_2163del | p.P721del | InFrameDeletion | 13/16 | - | 1 |
19-871197-G-C | c.2155C>G | p.L719V | Missense | 13/16 | - | 1 |
19-871202-CA-GT | c.2149_2150delinsAC | p.C717T | Missense | 13/16 | - | 1 |
19-871206-C-T | c.2146G>A | p.E716K | Missense | 13/16 | - | 1 |
19-871207-A-G | c.2145T>C | p.D715= | Synonymous | 13/16 | - | 1 |
19-871208-T-A | c.2144A>T | p.D715V | Missense | 13/16 | - | 1 |
19-871213-C-G | c.2139G>C | p.L713= | Synonymous | 13/16 | - | 1 |
19-871221-C-G | c.2131G>C | p.E711Q | Missense | 13/16 | - | 1 |
19-871222-G-A | c.2130C>T | p.D710= | Synonymous | 13/16 | - | 10 |
19-871222-G-C | c.2130C>G | p.D710E | Missense | 13/16 | - | 2 |
19-871222-G-T | c.2130C>A | p.D710E | Missense | 13/16 | - | 2 |
19-871224-C-CCGCT | c.2127_2128insAGCG | p.D710Sfs*8 | Frameshift | 13/16 | - | 1 |
19-871226-G-A | c.2126C>T | p.P709L | Missense | 13/16 | - | 1 |
19-871243-C-A | c.2109G>T | p.E703D | Missense | 13/16 | - | 1 |
19-871243-C-G | c.2109G>C | p.E703D | Missense | 13/16 | - | 1 |
19-871248-C-T | c.2104G>A | p.D702N | Missense | 13/16 | - | 2 |
19-871251-G-A | c.2101C>T | p.R701C | Missense | 13/16 | - | 1 |
19-871447-A-G | c.2099-194T>C | - | IntronicSNV | - | 12/15 | 8 |
19-871457-C-T | c.2099-204G>A | - | IntronicSNV | - | 12/15 | 2 |
19-871604-G-A | c.2098+322C>T | - | IntronicSNV | - | 12/15 | 1 |
19-871605-C-T | c.2098+321G>A | - | IntronicSNV | - | 12/15 | 1 |
19-871608-G-A | c.2098+318C>T | - | IntronicSNV | - | 12/15 | 1 |
19-871620-C-T | c.2098+306G>A | - | IntronicSNV | - | 12/15 | 1 |
19-871724-G-A | c.2098+202C>T | - | IntronicSNV | - | 12/15 | 5 |
19-871782-G-A | c.2098+144C>T | - | IntronicSNV | - | 12/15 | 1 |
19-871786-A-G | c.2098+140T>C | - | IntronicSNV | - | 12/15 | 1 |
19-871852-A-G | c.2098+74T>C | - | IntronicSNV | - | 12/15 | 1 |
19-871882-A-G | c.2098+44T>C | - | IntronicSNV | - | 12/15 | 1 |
19-871888-G-C | c.2098+38C>G | - | IntronicSNV | - | 12/15 | 1 |
19-871889-A-G | c.2098+37T>C | - | IntronicSNV | - | 12/15 | 2 |
19-871891-C-G | c.2098+35G>C | - | IntronicSNV | - | 12/15 | 1 |
19-871898-A-C | c.2098+28T>G | - | IntronicSNV | - | 12/15 | 1 |
19-871927-G-C | c.2097C>G | p.C699W | Missense | 12/16 | - | 1 |
19-871928-C-A | c.2096G>T | p.C699F | Missense | 12/16 | - | 1 |
19-871929-A-C | c.2095T>G | p.C699G | Missense | 12/16 | - | 1 |
19-871938-G-T | c.2086C>A | p.L696I | Missense | 12/16 | - | 1 |
19-871940-T-C | c.2084A>G | p.K695R | Missense | 12/16 | - | 1 |
19-871940-T-G | c.2084A>C | p.K695T | Missense | 12/16 | - | 2 |
19-871942-G-A | c.2082C>T | p.T694= | Synonymous | 12/16 | - | 1 |
19-871942-G-C | c.2082C>G | p.T694= | Synonymous | 12/16 | - | 1 |
19-871942-G-T | c.2082C>A | p.T694= | Synonymous | 12/16 | - | 1 |
19-871946-A-G | c.2078T>C | p.L693P | Missense | 12/16 | - | 1 |
19-871949-AG-GA | c.2074_2075delinsTC | p.L692S | Missense | 12/16 | - | 1 |
19-871958-A-G | c.2066T>C | p.L689P | Missense | 12/16 | - | 1 |
19-871970-C-G | c.2054G>C | p.S685T | Missense | 12/16 | - | 1 |
19-871984-C-T | c.2040G>A | p.S680= | Synonymous | 12/16 | - | 1 |
19-871987-G-A | c.2037C>T | p.T679= | Synonymous | 12/16 | - | 9 |
19-871987-G-C | c.2037C>G | p.T679= | Synonymous | 12/16 | - | 6 |
19-871987-G-T | c.2037C>A | p.T679= | Synonymous | 12/16 | - | 1 |
19-871993-CG-GA | c.2030_2031delinsTC | p.T677I | Missense | 12/16 | - | 1 |
19-871994-G-A | c.2030C>T | p.T677M | Missense | 12/16 | - | 1 |
19-871996-A-G | c.2028T>C | p.Y676= | Synonymous | 12/16 | - | 1 |
19-871999-C-A | c.2025G>T | p.V675= | Synonymous | 12/16 | - | 1 |
19-871999-C-G | c.2025G>C | p.V675= | Synonymous | 12/16 | - | 1 |
19-871999-C-T | c.2025G>A | p.V675= | Synonymous | 12/16 | - | 2 |
19-872001-C-T | c.2023G>A | p.V675M | Missense | 12/16 | - | 1 |
19-872002-G-A | c.2022C>T | p.P674= | Synonymous | 12/16 | - | 1 |
19-872005-CAG-AAA | c.2017_2019delinsTTT | p.L673F | Missense | 12/16 | - | 1 |
19-872007-G-A | c.2017C>T | p.L673= | Synonymous | 12/16 | - | 2 |
19-872008-G-A | c.2016C>T | p.C672= | Synonymous | 12/16 | - | 1 |
19-872020-C-A | c.2004G>T | p.L668= | Synonymous | 12/16 | - | 1 |
19-872020-C-G | c.2004G>C | p.L668= | Synonymous | 12/16 | - | 1 |
19-872020-C-T | c.2004G>A | p.L668= | Synonymous | 12/16 | - | 3 |
19-872022-G-A | c.2002C>T | p.L668= | Synonymous | 12/16 | - | 1 |
19-872021-A-G | c.2003T>C | p.L668P | Missense | 12/16 | - | 1 |
19-872028-C-G | c.1996G>C | p.G666R | Missense | 12/16 | - | 1 |
19-872029-C-A | c.1995G>T | p.W665C | Missense | 12/16 | - | 1 |
19-872029-C-G | c.1995G>C | p.W665C | Missense | 12/16 | - | 1 |
19-872032-G-A | c.1992C>T | p.I664= | Synonymous | 12/16 | - | 1 |
19-872032-G-C | c.1992C>G | p.I664M | Missense | 12/16 | - | 1 |
19-872032-G-T | c.1992C>A | p.I664= | Synonymous | 12/16 | - | 1 |
19-872034-T-C | c.1990A>G | p.I664V | Missense | 12/16 | - | 1 |
19-872040-T-C | c.1984A>G | p.I662V | Missense | 12/16 | - | 1 |
19-872043-C-G | c.1981G>C | p.V661L | Missense | 12/16 | - | 1 |
19-872045-A-G | c.1979T>C | p.V660A | Missense | 12/16 | - | 1 |
19-872046-CCAT-C | c.1975_1977del | p.M659del | InFrameDeletion | 12/16 | - | 1 |
19-872050-C-T | c.1974G>A | p.L658= | Synonymous | 12/16 | - | 2 |
19-872052-A-G | c.1972T>C | p.L658= | Synonymous | 12/16 | - | 2 |
19-872055-C-T | c.1969G>A | p.E657K | Missense | 12/16 | - | 2 |
19-872057-C-T | c.1967G>A | p.R656Q | Missense | 12/16 | - | 1 |
19-872056-C-A | c.1968G>T | p.R656= | Synonymous | 12/16 | - | 1 |
19-872056-C-G | c.1968G>C | p.R656= | Synonymous | 12/16 | - | 1 |
19-872056-C-T | c.1968G>A | p.R656= | Synonymous | 12/16 | - | 1 |
19-872058-G-A | c.1966C>T | p.R656W | Missense | 12/16 | - | 3 |
19-872058-G-T | c.1966C>A | p.R656= | Synonymous | 12/16 | - | 2 |
19-872059-A-G | c.1965T>C | p.L655= | Synonymous | 12/16 | - | 1 |
19-872062-C-A | c.1962G>T | p.M654I | Missense | 12/16 | - | 2 |
19-872078-C-T | c.1946G>A | p.G649D | Missense | 12/16 | - | 3 |
19-872080-G-A | c.1944C>T | p.D648= | Synonymous | 12/16 | - | 1 |
19-872083-C-A | c.1941G>T | p.R647= | Synonymous | 12/16 | - | 3 |
19-872084-C-T | c.1940G>A | p.R647Q | Missense | 12/16 | - | 1 |
19-872083-C-G | c.1941G>C | p.R647= | Synonymous | 12/16 | - | 1 |
19-872083-C-T | c.1941G>A | p.R647= | Synonymous | 12/16 | - | 1 |
19-872085-G-A | c.1939C>T | p.R647W | Missense | 12/16 | - | 1 |
19-872085-G-T | c.1939C>A | p.R647= | Synonymous | 12/16 | - | 1 |
19-872086-C-A | c.1938G>T | p.L646= | Synonymous | 12/16 | - | 1 |
19-872086-C-G | c.1938G>C | p.L646= | Synonymous | 12/16 | - | 1 |
19-872086-C-T | c.1938G>A | p.L646= | Synonymous | 12/16 | - | 1 |
19-872088-G-A | c.1936C>T | p.L646= | Synonymous | 12/16 | - | 2 |
19-872089-A-G | c.1935T>C | p.F645= | Synonymous | 12/16 | - | 11 |
19-872090-A-T | c.1934T>A | p.F645Y | Missense | 12/16 | - | 1 |
19-872107-C-T | c.1917G>A | p.L639= | Synonymous | 12/16 | - | 1 |
19-872108-A-G | c.1916T>C | p.L639P | Missense | 12/16 | - | 1 |
19-872110-C-A | c.1914G>T | p.L638= | Synonymous | 12/16 | - | 1 |
19-872114-G-A | c.1910C>T | p.S637F | Missense | 12/16 | - | 3 |
19-872114-GA-TT | c.1909_1910delinsAA | p.S637N | Missense | 12/16 | - | 1 |
19-872118-C-T | c.1906G>A | p.G636S | Missense | 12/16 | - | 2 |
19-872255-G-A | c.1906-137C>T | - | IntronicSNV | - | 11/15 | 3 |
19-872614-A-C | c.1906-496T>G | - | IntronicSNV | - | 11/15 | 1 |
19-872614-A-G | c.1906-496T>C | - | IntronicSNV | - | 11/15 | 1 |
19-872802-A-C | c.1905+647T>G | - | IntronicSNV | - | 11/15 | 1 |
19-872802-A-G | c.1905+647T>C | - | IntronicSNV | - | 11/15 | 1 |
19-872847-G-A | c.1905+602C>T | - | IntronicSNV | - | 11/15 | 1 |
19-872877-G-A | c.1905+572C>T | - | IntronicSNV | - | 11/15 | 1 |
19-872987-G-A | c.1905+462C>T | - | IntronicSNV | - | 11/15 | 1 |
19-872987-G-C | c.1905+462C>G | - | IntronicSNV | - | 11/15 | 1 |
19-873258-C-G | c.1905+191G>C | - | IntronicSNV | - | 11/15 | 1 |
19-873306-T-C | c.1905+143A>G | - | IntronicSNV | - | 11/15 | 1 |
19-873323-GTAGGGGCGGGACTCCAAC-G | c.1905+108_1905+125del | - | IntronicDeletion | - | 11/15 | 1 |
19-873341-C-G | c.1905+108G>C | - | IntronicSNV | - | 11/15 | 2 |
19-873450-T-C | c.1904A>G | p.Q635R | Missense | 11/16 | - | 1 |
19-873453-T-C | c.1901A>G | p.N634S | Missense | 11/16 | - | 1 |
19-873460-G-C | c.1894C>G | p.L632V | Missense | 11/16 | - | 1 |
19-873461-G-A | c.1893C>T | p.S631= | Synonymous | 11/16 | - | 2 |
19-873482-G-A | c.1872C>T | p.F624= | Synonymous | 11/16 | - | 3 |
19-873486-T-A | c.1868A>T | p.D623V | Missense | 11/16 | - | 2 |
19-873487-C-T | c.1867G>A | p.D623N | Missense | 11/16 | - | 2 |
19-873488-G-A | c.1866C>T | p.G622= | Synonymous | 11/16 | - | 2 |
19-873488-G-C | c.1866C>G | p.G622= | Synonymous | 11/16 | - | 2 |
19-873488-G-T | c.1866C>A | p.G622= | Synonymous | 11/16 | - | 2 |
19-873489-C-T | c.1865G>A | p.G622D | Missense | 11/16 | - | 1 |
19-873494-C-A | c.1860G>T | p.W620C | Missense | 11/16 | - | 1 |
19-873494-C-G | c.1860G>C | p.W620C | Missense | 11/16 | - | 2 |
19-873495-C-A | c.1859G>T | p.W620L | Missense | 11/16 | - | 1 |
19-873506-C-T | c.1848G>A | p.Q616= | Synonymous | 11/16 | - | 3 |
19-873511-G-A | c.1843C>T | p.Q615* | Nonsense | 11/16 | - | 1 |
19-873515-C-A | c.1839G>T | p.A613= | Synonymous | 11/16 | - | 1 |
19-873515-C-G | c.1839G>C | p.A613= | Synonymous | 11/16 | - | 1 |
19-873515-C-T | c.1839G>A | p.A613= | Synonymous | 11/16 | - | 1 |
19-873530-C-A | c.1824G>T | p.M608I | Missense | 11/16 | - | 1 |
19-873530-C-T | c.1824G>A | p.M608I | Missense | 11/16 | - | 1 |
19-873532-T-G | c.1822A>C | p.M608L | Missense | 11/16 | - | 1 |
19-873537-A-C | c.1817T>G | p.L606R | Missense | 11/16 | - | 2 |
19-873541-C-A | c.1813G>T | p.V605L | Missense | 11/16 | - | 1 |
19-873541-C-G | c.1813G>C | p.V605L | Missense | 11/16 | - | 1 |
19-873545-T-A | c.1809A>T | p.E603D | Missense | 11/16 | - | 1 |
19-873545-T-G | c.1809A>C | p.E603D | Missense | 11/16 | - | 1 |
19-873548-C-A | c.1806G>T | p.E602D | Missense | 11/16 | - | 1 |
19-873548-C-G | c.1806G>C | p.E602D | Missense | 11/16 | - | 1 |
19-873551-C-T | c.1803G>A | p.T601= | Synonymous | 11/16 | - | 1 |
19-873553-T-C | c.1801A>G | p.T601A | Missense | 11/16 | - | 1 |
19-873554-C-A | c.1800G>T | p.K600N | Missense | 11/16 | - | 1 |
19-873554-C-G | c.1800G>C | p.K600N | Missense | 11/16 | - | 2 |
19-873566-C-T | c.1788G>A | p.M596I | Missense | 11/16 | - | 1 |
19-873569-G-A | c.1785C>T | p.V595= | Synonymous | 11/16 | - | 2 |
19-873569-G-C | c.1785C>G | p.V595= | Synonymous | 11/16 | - | 1 |
19-873569-G-T | c.1785C>A | p.V595= | Synonymous | 11/16 | - | 1 |
19-873577-C-G | c.1777G>C | p.D593H | Missense | 11/16 | - | 2 |
19-873578-A-C | c.1776T>G | p.I592M | Missense | 11/16 | - | 1 |
19-873579-A-G | c.1775T>C | p.I592T | Missense | 11/16 | - | 2 |
19-873743-G-A | c.1772-161C>T | - | IntronicSNV | - | 10/15 | 3 |
19-873743-G-C | c.1772-161C>G | - | IntronicSNV | - | 10/15 | 3 |
19-873743-G-T | c.1772-161C>A | - | IntronicSNV | - | 10/15 | 3 |
19-875228-G-A | c.1771+16C>T | - | IntronicSNV | - | 10/15 | 1 |
19-875244-C-T | c.1771G>A | p.D591N | Missense | 10/16 | - | 2 |
19-875243-CCGA-C | c.1769_1771del | p.V590del | SpliceDonorDeletion | 10/16 | - | 1 |
19-875247-C-A | c.1768G>T | p.V590F | Missense | 10/16 | - | 1 |
19-875247-C-T | c.1768G>A | p.V590I | Missense | 10/16 | - | 1 |
19-875250-C-T | c.1765G>A | p.D589N | Missense | 10/16 | - | 1 |
19-875251-G-A | c.1764C>T | p.T588= | Synonymous | 10/16 | - | 1 |
19-875251-G-C | c.1764C>G | p.T588= | Synonymous | 10/16 | - | 1 |
19-875251-G-T | c.1764C>A | p.T588= | Synonymous | 10/16 | - | 1 |
19-875252-G-A | c.1763C>T | p.T588I | Missense | 10/16 | - | 5 |
19-875257-C-G | c.1758G>C | p.K586N | Missense | 10/16 | - | 1 |
19-875263-G-A | c.1752C>T | p.C584= | Synonymous | 10/16 | - | 1 |
19-875264-C-T | c.1751G>A | p.C584Y | Missense | 10/16 | - | 6 |
19-875271-C-T | c.1744G>A | p.E582K | Missense | 10/16 | - | 1 |
19-875275-TCAGCC-T | c.1736_1740del | p.R579Hfs*13 | Frameshift | 10/16 | - | 1 |
19-875278-CC-AT | c.1736_1737delinsAT | p.R579H | Missense | 10/16 | - | 1 |
19-875280-G-A | c.1735C>T | p.R579W | Missense | 10/16 | - | 1 |
19-875282-T-C | c.1733A>G | p.D578G | Missense | 10/16 | - | 1 |
19-875283-C-A | c.1732G>T | p.D578Y | Missense | 10/16 | - | 1 |
19-875283-C-T | c.1732G>A | p.D578N | Missense | 10/16 | - | 1 |
19-875286-C-T | c.1729G>A | p.G577S | Missense | 10/16 | - | 2 |
19-875288-GGGGCTCT-G | c.1721_1727del | p.K574Tfs*5 | Frameshift | 10/16 | - | 1 |
19-875291-C-A | c.1724G>T | p.S575I | Missense | 10/16 | - | 1 |
19-875292-T-TA | c.1722_1723insT | p.S575* | Nonsense | 10/16 | - | 1 |
19-875294-CTT-C | c.1720_1721del | p.K574Efs*19 | Frameshift | 10/16 | - | 1 |
19-875295-T-TA | c.1719_1720insT | p.K574* | Nonsense | 10/16 | - | 3 |
19-875295-T-TAAAAAA | c.1719_1720insTTTTTT | p.D573_K574insFF | InFrameInsertion | 10/16 | - | 2 |
19-875295-T-TTAAAAAA | c.1719_1720insTTTTTTA | p.K574Ffs*22 | Frameshift | 10/16 | - | 3 |
19-875298-C-A | c.1717G>T | p.D573Y | Missense | 10/16 | - | 2 |
19-875301-G-A | c.1714C>T | p.P572S | Missense | 10/16 | - | 5 |
19-875311-A-G | c.1704T>C | p.F568= | Synonymous | 10/16 | - | 2 |
19-875313-A-AG | c.1701dup | p.F568Lfs*6 | Frameshift | 10/16 | - | 1 |
19-875314-G-C | c.1701C>G | p.H567Q | Missense | 10/16 | - | 1 |
19-875318-G-T | c.1697C>A | p.P566H | Missense | 10/16 | - | 2 |
19-875321-C-A | c.1694G>T | p.R565L | Missense | 10/16 | - | 1 |
19-875321-C-T | c.1694G>A | p.R565H | Missense | 10/16 | - | 1 |
19-875322-G-A | c.1693C>T | p.R565C | Missense | 10/16 | - | 2 |
19-875329-C-A | c.1686G>T | p.S562= | Synonymous | 10/16 | - | 1 |
19-875329-C-G | c.1686G>C | p.S562= | Synonymous | 10/16 | - | 1 |
19-875329-C-T | c.1686G>A | p.S562= | Synonymous | 10/16 | - | 2 |
19-875330-G-A | c.1685C>T | p.S562L | Missense | 10/16 | - | 3 |
19-875332-C-A | c.1683G>T | p.K561N | Missense | 10/16 | - | 1 |
19-875339-G-A | c.1676C>T | p.T559I | Missense | 10/16 | - | 3 |
19-875346-T-C | c.1669A>G | p.S557G | Missense | 10/16 | - | 1 |
19-875362-G-C | c.1653C>G | p.L551= | Synonymous | 10/16 | - | 2 |
19-875364-G-C | c.1651C>G | p.L551V | Missense | 10/16 | - | 1 |
19-875367-T-C | c.1648A>G | p.K550E | Missense | 10/16 | - | 1 |
19-875371-G-A | c.1644C>T | p.H548= | Synonymous | 10/16 | - | 1 |
19-875373-G-A | c.1642C>T | p.H548Y | Missense | 10/16 | - | 2 |
19-875376-A-T | c.1639T>A | p.Y547N | Missense | 10/16 | - | 1 |
19-875380-G-A | c.1635C>T | p.C545= | Synonymous | 10/16 | - | 2 |
19-875383-C-A | c.1632G>T | p.V544= | Synonymous | 10/16 | - | 1 |
19-875383-C-T | c.1632G>A | p.V544= | Synonymous | 10/16 | - | 1 |
19-875385-C-T | c.1630G>A | p.V544M | Missense | 10/16 | - | 1 |
19-875388-G-A | c.1627C>T | p.R543C | Missense | 10/16 | - | 1 |
19-875389-G-A | c.1626C>T | p.T542= | Synonymous | 10/16 | - | 7 |
19-875389-G-T | c.1626C>A | p.T542= | Synonymous | 10/16 | - | 4 |
19-875395-C-A | c.1620G>T | p.T540= | Synonymous | 10/16 | - | 1 |
19-875395-C-G | c.1620G>C | p.T540= | Synonymous | 10/16 | - | 1 |
19-875395-C-T | c.1620G>A | p.T540= | Synonymous | 10/16 | - | 1 |
19-875396-G-A | c.1619C>T | p.T540M | Missense | 10/16 | - | 4 |
19-875396-G-T | c.1619C>A | p.T540K | Missense | 10/16 | - | 1 |
19-875398-G-A | c.1617C>T | p.C539= | Synonymous | 10/16 | - | 1 |
19-875402-G-A | c.1613C>T | p.P538L | Missense | 10/16 | - | 1 |
19-875404-C-A | c.1611G>T | p.S537= | Synonymous | 10/16 | - | 1 |
19-875404-C-G | c.1611G>C | p.S537= | Synonymous | 10/16 | - | 1 |
19-875404-C-T | c.1611G>A | p.S537= | Synonymous | 10/16 | - | 1 |
19-875405-G-A | c.1610C>T | p.S537L | Missense | 10/16 | - | 1 |
19-875411-T-C | c.1604A>G | p.K535R | Missense | 10/16 | - | 2 |
19-875413-G-A | c.1602C>T | p.C534= | Synonymous | 10/16 | - | 1 |
19-875415-A-C | c.1600T>G | p.C534G | Missense | 10/16 | - | 1 |
19-875420-G-A | c.1595C>T | p.S532L | Missense | 10/16 | - | 3 |
19-875422-G-A | c.1593C>T | p.A531= | Synonymous | 10/16 | - | 1 |
19-875423-G-A | c.1592C>T | p.A531V | Missense | 10/16 | - | 1 |
19-875429-A-G | c.1586T>C | p.M529T | Missense | 10/16 | - | 1 |
19-875432-G-T | c.1583C>A | p.A528D | Missense | 10/16 | - | 1 |
19-875437-G-A | c.1578C>T | p.I526= | Synonymous | 10/16 | - | 2 |
19-875441-C-T | c.1574G>A | p.R525Q | Missense | 10/16 | - | 1 |
19-875442-G-A | c.1573C>T | p.R525W | Missense | 10/16 | - | 1 |
19-875446-G-A | c.1569C>T | p.S523= | Synonymous | 10/16 | - | 3 |
19-875446-G-C | c.1569C>G | p.S523= | Synonymous | 10/16 | - | 1 |
19-875446-G-T | c.1569C>A | p.S523= | Synonymous | 10/16 | - | 1 |
19-875447-G-A | c.1568C>T | p.S523F | Missense | 10/16 | - | 7 |
19-875454-C-G | c.1561G>C | p.V521L | Missense | 10/16 | - | 1 |
19-875559-C-T | c.1561-105G>A | - | IntronicSNV | - | 9/15 | 1 |
19-876604-C-T | c.1560+370G>A | - | IntronicSNV | - | 9/15 | 2 |
19-876627-C-T | c.1560+347G>A | - | IntronicSNV | - | 9/15 | 1 |
19-876838-A-G | c.1560+136T>C | - | IntronicSNV | - | 9/15 | 1 |
19-876878-G-A | c.1560+96C>T | - | IntronicSNV | - | 9/15 | 1 |
19-876882-C-A | c.1560+92G>T | - | IntronicSNV | - | 9/15 | 2 |
19-876882-C-G | c.1560+92G>C | - | IntronicSNV | - | 9/15 | 1 |
19-876897-G-C | c.1560+77C>G | - | IntronicSNV | - | 9/15 | 1 |
19-876897-G-GC | c.1560+76dup | - | IntronicInsertion | - | 9/15 | 1 |
19-876910-C-T | c.1560+64G>A | - | IntronicSNV | - | 9/15 | 1 |
19-876911-G-A | c.1560+63C>T | - | IntronicSNV | - | 9/15 | 3 |
19-876911-G-C | c.1560+63C>G | - | IntronicSNV | - | 9/15 | 1 |
19-876910-CG-C | c.1560+63del | - | IntronicDeletion | - | 9/15 | 1 |
19-876914-GC-G | c.1560+59del | - | IntronicDeletion | - | 9/15 | 1 |
19-876929-A-G | c.1560+45T>C | - | IntronicSNV | - | 9/15 | 1 |
19-876929-CA-C | c.1560+45del | - | IntronicDeletion | - | 9/15 | 2 |
19-876933-C-G | c.1560+41G>C | - | IntronicSNV | - | 9/15 | 1 |
19-876932-GC-G | c.1560+41del | - | IntronicDeletion | - | 9/15 | 1 |
19-876973-C-G | c.1560+1G>C | - | IntronicSNV | - | 9/15 | 1 |
19-876974-C-A | c.1560G>T | p.Q520H | Missense | 9/16 | - | 1 |
19-876978-T-C | c.1556A>G | p.Q519R | Missense | 9/16 | - | 2 |
19-876979-G-A | c.1555C>T | p.Q519* | Nonsense | 9/16 | - | 1 |
19-876982-G-A | c.1552C>T | p.L518= | Synonymous | 9/16 | - | 1 |
19-876985-C-T | c.1549G>A | p.A517T | Missense | 9/16 | - | 1 |
19-876997-G-A | c.1537C>T | p.R513C | Missense | 9/16 | - | 4 |
19-876998-C-A | c.1536G>T | p.T512= | Synonymous | 9/16 | - | 1 |
19-876998-C-G | c.1536G>C | p.T512= | Synonymous | 9/16 | - | 1 |
19-876998-C-T | c.1536G>A | p.T512= | Synonymous | 9/16 | - | 1 |
19-877004-C-A | c.1530G>T | p.E510D | Missense | 9/16 | - | 1 |
19-877010-G-A | c.1524C>T | p.H508= | Synonymous | 9/16 | - | 1 |
19-877011-T-G | c.1523A>C | p.H508P | Missense | 9/16 | - | 1 |
19-877013-C-A | c.1521G>T | p.L507= | Synonymous | 9/16 | - | 2 |
19-877024-C-T | c.1510G>A | p.V504M | Missense | 9/16 | - | 1 |
19-877034-T-A | c.1500A>T | p.V500= | Synonymous | 9/16 | - | 1 |
19-877034-TAC-CAT | c.1498_1500delinsATG | p.V500M | Missense | 9/16 | - | 1 |
19-877034-T-C | c.1500A>G | p.V500= | Synonymous | 9/16 | - | 1 |
19-877034-T-G | c.1500A>C | p.V500= | Synonymous | 9/16 | - | 1 |
19-877041-C-A | c.1493G>T | p.S498I | Missense | 9/16 | - | 4 |
19-877043-G-A | c.1491C>T | p.P497= | Synonymous | 9/16 | - | 1 |
19-877044-G-A | c.1490C>T | p.P497L | Missense | 9/16 | - | 1 |
19-877046-C-A | c.1488G>T | p.Q496H | Missense | 9/16 | - | 3 |
19-877046-C-G | c.1488G>C | p.Q496H | Missense | 9/16 | - | 2 |
19-877051-C-T | c.1483G>A | p.V495M | Missense | 9/16 | - | 1 |
19-877064-G-C | c.1470C>G | p.D490E | Missense | 9/16 | - | 1 |
19-877064-G-T | c.1470C>A | p.D490E | Missense | 9/16 | - | 1 |
19-877065-T-G | c.1469A>C | p.D490A | Missense | 9/16 | - | 1 |
19-877075-C-A | c.1459G>T | p.D487Y | Missense | 9/16 | - | 1 |
19-877075-C-T | c.1459G>A | p.D487N | Missense | 9/16 | - | 1 |
19-877079-G-A | c.1455C>T | p.G485= | Synonymous | 9/16 | - | 2 |
19-877079-G-C | c.1455C>G | p.G485= | Synonymous | 9/16 | - | 2 |
19-877079-GCC-CCA | c.1453_1455delinsTGG | p.G485W | Missense | 9/16 | - | 1 |
19-877079-GC-CT | c.1454_1455delinsAG | p.G485E | Missense | 9/16 | - | 1 |
19-877079-G-T | c.1455C>A | p.G485= | Synonymous | 9/16 | - | 2 |
19-877081-C-T | c.1453G>A | p.G485S | Missense | 9/16 | - | 1 |
19-877082-G-A | c.1452C>T | p.T484= | Synonymous | 9/16 | - | 1 |
19-877082-G-C | c.1452C>G | p.T484= | Synonymous | 9/16 | - | 1 |
19-877082-G-T | c.1452C>A | p.T484= | Synonymous | 9/16 | - | 1 |
19-877092-C-T | c.1442G>A | p.C481Y | Missense | 9/16 | - | 1 |
19-877095-T-C | c.1439A>G | p.Y480C | Missense | 9/16 | - | 1 |
19-877106-G-C | c.1428C>G | p.F476L | Missense | 9/16 | - | 1 |
19-877109-G-A | c.1425C>T | p.L475= | Synonymous | 9/16 | - | 1 |
19-877109-G-C | c.1425C>G | p.L475= | Synonymous | 9/16 | - | 1 |
19-877109-G-T | c.1425C>A | p.L475= | Synonymous | 9/16 | - | 1 |
19-877111-G-A | c.1423C>T | p.L475F | Missense | 9/16 | - | 1 |
19-877121-C-A | c.1413G>T | p.L471= | Synonymous | 9/16 | - | 1 |
19-877121-C-G | c.1413G>C | p.L471= | Synonymous | 9/16 | - | 1 |
19-877121-C-T | c.1413G>A | p.L471= | Synonymous | 9/16 | - | 1 |
19-877123-G-A | c.1411C>T | p.L471= | Synonymous | 9/16 | - | 1 |
19-877123-G-T | c.1411C>A | p.L471M | Missense | 9/16 | - | 1 |
19-877124-C-A | c.1410G>T | p.A470= | Synonymous | 9/16 | - | 1 |
19-877124-C-G | c.1410G>C | p.A470= | Synonymous | 9/16 | - | 1 |
19-877124-C-T | c.1410G>A | p.A470= | Synonymous | 9/16 | - | 2 |
19-877125-G-A | c.1409C>T | p.A470V | Missense | 9/16 | - | 4 |
19-877126-C-T | c.1408G>A | p.A470T | Missense | 9/16 | - | 1 |
19-877142-C-A | c.1392G>T | p.P464= | Synonymous | 9/16 | - | 1 |
19-877142-C-T | c.1392G>A | p.P464= | Synonymous | 9/16 | - | 1 |
19-877144-G-A | c.1390C>T | p.P464S | Missense | 9/16 | - | 4 |
19-877150-C-T | c.1384G>A | p.G462S | Missense | 9/16 | - | 1 |
19-877154-G-A | c.1380C>T | p.S460= | Synonymous | 9/16 | - | 1 |
19-877154-G-C | c.1380C>G | p.S460= | Synonymous | 9/16 | - | 1 |
19-877154-G-T | c.1380C>A | p.S460= | Synonymous | 9/16 | - | 1 |
19-877155-G-C | c.1379C>G | p.S460C | Missense | 9/16 | - | 1 |
19-877158-G-A | c.1376C>T | p.P459L | Missense | 9/16 | - | 1 |
19-877166-G-A | c.1368C>T | p.R456= | Synonymous | 9/16 | - | 2 |
19-877168-G-T | c.1366C>A | p.R456S | Missense | 9/16 | - | 1 |
19-877171-G-T | c.1363C>A | p.L455I | Missense | 9/16 | - | 1 |
19-877172-C-A | c.1362G>T | p.V454= | Synonymous | 9/16 | - | 1 |
19-877172-C-G | c.1362G>C | p.V454= | Synonymous | 9/16 | - | 1 |
19-877172-C-T | c.1362G>A | p.V454= | Synonymous | 9/16 | - | 1 |
19-877178-C-A | c.1356G>T | p.L452= | Synonymous | 9/16 | - | 1 |
19-877178-C-G | c.1356G>C | p.L452= | Synonymous | 9/16 | - | 1 |
19-877178-C-T | c.1356G>A | p.L452= | Synonymous | 9/16 | - | 1 |
19-877180-G-A | c.1354C>T | p.L452= | Synonymous | 9/16 | - | 1 |
19-877295-C-CCT | c.1354-116_1354-115insAG | - | IntronicInsertion | - | 8/15 | 2 |
19-877899-G-A | c.1354-719C>T | - | IntronicSNV | - | 8/15 | 1 |
19-878219-T-C | c.1354-1039A>G | - | IntronicSNV | - | 8/15 | 1 |
19-878473-A-C | c.1354-1293T>G | - | IntronicSNV | - | 8/15 | 1 |
19-878626-C-G | c.1353+1311G>C | - | IntronicSNV | - | 8/15 | 1 |
19-878821-C-A | c.1353+1116G>T | - | IntronicSNV | - | 8/15 | 1 |
19-878821-C-G | c.1353+1116G>C | - | IntronicSNV | - | 8/15 | 1 |
19-879025-T-C | c.1353+912A>G | - | IntronicSNV | - | 8/15 | 1 |
19-879025-T-G | c.1353+912A>C | - | IntronicSNV | - | 8/15 | 1 |
19-879123-C-A | c.1353+814G>T | - | IntronicSNV | - | 8/15 | 1 |
19-879151-C-T | c.1353+786G>A | - | IntronicSNV | - | 8/15 | 1 |
19-879380-G-A | c.1353+557C>T | - | IntronicSNV | - | 8/15 | 1 |
19-879380-G-C | c.1353+557C>G | - | IntronicSNV | - | 8/15 | 1 |
19-879399-A-G | c.1353+538T>C | - | IntronicSNV | - | 8/15 | 1 |
19-879615-C-A | c.1353+322G>T | - | IntronicSNV | - | 8/15 | 1 |
19-879628-C-T | c.1353+309G>A | - | IntronicSNV | - | 8/15 | 1 |
19-879677-C-G | c.1353+260G>C | - | IntronicSNV | - | 8/15 | 1 |
19-879681-G-A | c.1353+256C>T | - | IntronicSNV | - | 8/15 | 1 |
19-879735-G-A | c.1353+202C>T | - | IntronicSNV | - | 8/15 | 1 |
19-879743-C-G | c.1353+194G>C | - | IntronicSNV | - | 8/15 | 1 |
19-879776-G-A | c.1353+161C>T | - | IntronicSNV | - | 8/15 | 1 |
19-879791-G-A | c.1353+146C>T | - | IntronicSNV | - | 8/15 | 3 |
19-879796-C-T | c.1353+141G>A | - | IntronicSNV | - | 8/15 | 1 |
19-879799-C-G | c.1353+138G>C | - | IntronicSNV | - | 8/15 | 1 |
19-879803-C-T | c.1353+134G>A | - | IntronicSNV | - | 8/15 | 1 |
19-879811-C-G | c.1353+126G>C | - | IntronicSNV | - | 8/15 | 1 |
19-879820-G-C | c.1353+117C>G | - | IntronicSNV | - | 8/15 | 2 |
19-879821-G-C | c.1353+116C>G | - | IntronicSNV | - | 8/15 | 2 |
19-879852-C-T | c.1353+85G>A | - | IntronicSNV | - | 8/15 | 1 |
19-879879-G-A | c.1353+58C>T | - | IntronicSNV | - | 8/15 | 1 |
19-879887-C-G | c.1353+50G>C | - | IntronicSNV | - | 8/15 | 2 |
19-879899-G-C | c.1353+38C>G | - | IntronicSNV | - | 8/15 | 1 |
19-879912-G-A | c.1353+25C>T | - | IntronicSNV | - | 8/15 | 1 |
19-879935-A-G | c.1353+2T>C | - | IntronicSNV | - | 8/15 | 1 |
19-879943-G-C | c.1347C>G | p.H449Q | Missense | 8/16 | - | 5 |
19-879943-G-T | c.1347C>A | p.H449Q | Missense | 8/16 | - | 3 |
19-879945-G-A | c.1345C>T | p.H449Y | Missense | 8/16 | - | 1 |
19-879947-C-T | c.1343G>A | p.S448N | Missense | 8/16 | - | 2 |
19-879952-A-C | c.1338T>G | p.I446M | Missense | 8/16 | - | 1 |
19-879952-A-G | c.1338T>C | p.I446= | Synonymous | 8/16 | - | 1 |
19-879954-T-C | c.1336A>G | p.I446V | Missense | 8/16 | - | 1 |
19-879955-C-A | c.1335G>T | p.G445= | Synonymous | 8/16 | - | 1 |
19-879955-C-G | c.1335G>C | p.G445= | Synonymous | 8/16 | - | 2 |
19-879955-C-T | c.1335G>A | p.G445= | Synonymous | 8/16 | - | 1 |
19-879958-CAC-GAT | c.1330_1332delinsATC | p.V444I | Missense | 8/16 | - | 1 |
19-879961-C-A | c.1329G>T | p.L443= | Synonymous | 8/16 | - | 1 |
19-879962-A-G | c.1328T>C | p.L443P | Missense | 8/16 | - | 1 |
19-879963-G-A | c.1327C>T | p.L443= | Synonymous | 8/16 | - | 1 |
19-879964-G-C | c.1326C>G | p.A442= | Synonymous | 8/16 | - | 1 |
19-879965-G-A | c.1325C>T | p.A442V | Missense | 8/16 | - | 1 |
19-879965-G-C | c.1325C>G | p.A442G | Missense | 8/16 | - | 1 |
19-879966-C-T | c.1324G>A | p.A442T | Missense | 8/16 | - | 1 |
19-879973-C-A | c.1317G>T | p.T439= | Synonymous | 8/16 | - | 1 |
19-879973-C-G | c.1317G>C | p.T439= | Synonymous | 8/16 | - | 1 |
19-879973-C-T | c.1317G>A | p.T439= | Synonymous | 8/16 | - | 1 |
19-879975-T-A | c.1315A>T | p.T439S | Missense | 8/16 | - | 1 |
19-879977-C-A | c.1313G>T | p.W438L | Missense | 8/16 | - | 1 |
19-879980-G-A | c.1310C>T | p.S437L | Missense | 8/16 | - | 2 |
19-879984-G-T | c.1306C>A | p.L436I | Missense | 8/16 | - | 2 |
19-879985-C-T | c.1305G>A | p.Q435= | Synonymous | 8/16 | - | 1 |
19-879987-G-A | c.1303C>T | p.Q435* | Nonsense | 8/16 | - | 1 |
19-879990-T-C | c.1300A>G | p.M434V | Missense | 8/16 | - | 1 |
19-879999-A-C | c.1291T>G | p.L431V | Missense | 8/16 | - | 1 |
19-880002-G-A | c.1288C>T | p.H430Y | Missense | 8/16 | - | 2 |
19-880004-A-T | c.1286T>A | p.V429D | Missense | 8/16 | - | 2 |
19-880005-C-T | c.1285G>A | p.V429I | Missense | 8/16 | - | 3 |
19-880007-G-A | c.1283C>T | p.A428V | Missense | 8/16 | - | 2 |
19-880010-G-A | c.1280C>T | p.P427L | Missense | 8/16 | - | 3 |
19-880013-C-G | c.1277G>C | p.G426A | Missense | 8/16 | - | 1 |
19-880016-G-A | c.1274C>T | p.A425V | Missense | 8/16 | - | 1 |
19-880018-G-A | c.1272C>T | p.T424= | Synonymous | 8/16 | - | 1 |
19-880018-G-C | c.1272C>G | p.T424= | Synonymous | 8/16 | - | 1 |
19-880018-G-T | c.1272C>A | p.T424= | Synonymous | 8/16 | - | 1 |
19-880019-G-A | c.1271C>T | p.T424I | Missense | 8/16 | - | 1 |
19-880022-C-T | c.1268G>A | p.R423H | Missense | 8/16 | - | 2 |
19-880024-G-A | c.1266C>T | p.P422= | Synonymous | 8/16 | - | 2 |
19-880024-G-C | c.1266C>G | p.P422= | Synonymous | 8/16 | - | 1 |
19-880024-G-T | c.1266C>A | p.P422= | Synonymous | 8/16 | - | 1 |
19-880025-G-A | c.1265C>T | p.P422L | Missense | 8/16 | - | 2 |
19-880026-G-T | c.1264C>A | p.P422T | Missense | 8/16 | - | 1 |
19-880027-GC-TT | c.1262_1263delinsAA | p.R421Q | Missense | 8/16 | - | 1 |
19-880029-G-A | c.1261C>T | p.R421C | Missense | 8/16 | - | 1 |
19-880030-C-T | c.1260G>A | p.K420= | Synonymous | 8/16 | - | 1 |
19-880040-G-A | c.1250C>T | p.P417L | Missense | 8/16 | - | 1 |
19-880041-G-A | c.1249C>T | p.P417S | Missense | 8/16 | - | 1 |
19-880044-C-T | c.1246G>A | p.E416K | Missense | 8/16 | - | 1 |
19-880049-ACAGGC-A | c.1236_1240del | p.R412Sfs*3 | Frameshift | 8/16 | - | 1 |
19-880054-C-A | c.1236G>T | p.R412S | Missense | 8/16 | - | 1 |
19-880054-C-G | c.1236G>C | p.R412S | Missense | 8/16 | - | 1 |
19-880055-C-T | c.1235G>A | p.R412K | Missense | 8/16 | - | 1 |
19-880058-G-A | c.1232C>T | p.P411L | Missense | 8/16 | - | 1 |
19-880059-G-A | c.1231C>T | p.P411S | Missense | 8/16 | - | 1 |
19-880063-C-A | c.1227G>T | p.A409= | Synonymous | 8/16 | - | 1 |
19-880063-C-G | c.1227G>C | p.A409= | Synonymous | 8/16 | - | 1 |
19-880063-C-T | c.1227G>A | p.A409= | Synonymous | 8/16 | - | 1 |
19-880066-G-A | c.1224C>T | p.S408= | Synonymous | 8/16 | - | 14 |
19-880066-G-C | c.1224C>G | p.S408= | Synonymous | 8/16 | - | 10 |
19-880066-G-T | c.1224C>A | p.S408= | Synonymous | 8/16 | - | 1 |
19-880067-G-C | c.1223C>G | p.S408C | Missense | 8/16 | - | 1 |
19-880069-G-A | c.1221C>T | p.S407= | Synonymous | 8/16 | - | 1 |
19-880081-G-A | c.1209C>T | p.A403= | Synonymous | 8/16 | - | 1 |
19-880081-G-C | c.1209C>G | p.A403= | Synonymous | 8/16 | - | 1 |
19-880087-GG-CA | c.1202_1203delinsTG | p.T401M | Missense | 8/16 | - | 1 |
19-880093-C-G | c.1197G>C | p.L399= | Synonymous | 8/16 | - | 1 |
19-880095-G-T | c.1195C>A | p.L399M | Missense | 8/16 | - | 1 |
19-880096-T-A | c.1194A>T | p.S398= | Synonymous | 8/16 | - | 1 |
19-880096-T-C | c.1194A>G | p.S398= | Synonymous | 8/16 | - | 1 |
19-880096-T-G | c.1194A>C | p.S398= | Synonymous | 8/16 | - | 1 |
19-880103-C-T | c.1187G>A | p.R396Q | Missense | 8/16 | - | 1 |
19-880104-G-A | c.1186C>T | p.R396W | Missense | 8/16 | - | 1 |
19-880110-C-T | c.1180G>A | p.V394M | Missense | 8/16 | - | 1 |
19-880111-G-A | c.1179C>T | p.I393= | Synonymous | 8/16 | - | 1 |
19-880111-G-T | c.1179C>A | p.I393= | Synonymous | 8/16 | - | 1 |
19-880116-G-A | c.1174C>T | p.H392Y | Missense | 8/16 | - | 3 |
19-880117-G-A | c.1173C>T | p.V391= | Synonymous | 8/16 | - | 1 |
19-880117-G-C | c.1173C>G | p.V391= | Synonymous | 8/16 | - | 1 |
19-880117-G-T | c.1173C>A | p.V391= | Synonymous | 8/16 | - | 1 |
19-880120-G-A | c.1170C>T | p.S390= | Synonymous | 8/16 | - | 1 |
19-880125-C-A | c.1165G>T | p.G389C | Missense | 8/16 | - | 2 |
19-880127-T-C | c.1163A>G | p.D388G | Missense | 8/16 | - | 1 |
19-880128-C-A | c.1162G>T | p.D388Y | Missense | 8/16 | - | 1 |
19-880136-G-T | c.1154C>A | p.A385D | Missense | 8/16 | - | 1 |
19-880137-C-T | c.1153G>A | p.A385T | Missense | 8/16 | - | 1 |
19-880147-C-A | c.1143G>T | p.G381= | Synonymous | 8/16 | - | 1 |
19-880147-C-G | c.1143G>C | p.G381= | Synonymous | 8/16 | - | 1 |
19-880147-C-T | c.1143G>A | p.G381= | Synonymous | 8/16 | - | 1 |
19-880178-G-C | c.1142-30C>G | - | IntronicSNV | - | 7/15 | 1 |
19-881413-A-G | c.1141+146T>C | - | IntronicSNV | - | 7/15 | 3 |
19-881547-G-T | c.1141+12C>A | - | IntronicSNV | - | 7/15 | 1 |
19-881554-C-T | c.1141+5G>A | - | IntronicSNV | - | 7/15 | 1 |
19-881559-C-G | c.1141G>C | p.G381R | Missense | 7/16 | - | 1 |
19-881559-C-T | c.1141G>A | p.G381R | Missense | 7/16 | - | 2 |
19-881564-C-G | c.1136G>C | p.G379A | Missense | 7/16 | - | 3 |
19-881567-G-C | c.1133C>G | p.P378R | Missense | 7/16 | - | 1 |
19-881578-T-A | c.1122A>T | p.T374= | Synonymous | 7/16 | - | 1 |
19-881578-T-C | c.1122A>G | p.T374= | Synonymous | 7/16 | - | 1 |
19-881578-T-G | c.1122A>C | p.T374= | Synonymous | 7/16 | - | 1 |
19-881583-C-T | c.1117G>A | p.D373N | Missense | 7/16 | - | 2 |
19-881585-C-T | c.1115G>A | p.S372N | Missense | 7/16 | - | 1 |
19-881589-C-A | c.1111G>T | p.A371S | Missense | 7/16 | - | 6 |
19-881589-C-T | c.1111G>A | p.A371T | Missense | 7/16 | - | 1 |
19-881594-T-A | c.1106A>T | p.K369M | Missense | 7/16 | - | 1 |
19-881596-G-A | c.1104C>T | p.L368= | Synonymous | 7/16 | - | 1 |
19-881596-G-C | c.1104C>G | p.L368= | Synonymous | 7/16 | - | 2 |
19-881596-G-T | c.1104C>A | p.L368= | Synonymous | 7/16 | - | 1 |
19-881601-C-T | c.1099G>A | p.D367N | Missense | 7/16 | - | 3 |
19-881602-G-A | c.1098C>T | p.T366= | Synonymous | 7/16 | - | 1 |
19-881602-G-C | c.1098C>G | p.T366= | Synonymous | 7/16 | - | 1 |
19-881602-G-T | c.1098C>A | p.T366= | Synonymous | 7/16 | - | 1 |
19-881603-G-A | c.1097C>T | p.T366I | Missense | 7/16 | - | 3 |
19-881608-G-A | c.1092C>T | p.T364= | Synonymous | 7/16 | - | 1 |
19-881608-G-C | c.1092C>G | p.T364= | Synonymous | 7/16 | - | 1 |
19-881608-G-T | c.1092C>A | p.T364= | Synonymous | 7/16 | - | 1 |
19-881615-G-A | c.1085C>T | p.S362L | Missense | 7/16 | - | 1 |
19-881635-C-T | c.1065G>A | p.A355= | Synonymous | 7/16 | - | 1 |
19-881645-G-A | c.1055C>T | p.S352L | Missense | 7/16 | - | 2 |
19-881646-A-G | c.1054T>C | p.S352P | Missense | 7/16 | - | 1 |
19-881650-A-G | c.1050T>C | p.R350= | Synonymous | 7/16 | - | 1 |
19-881651-C-T | c.1049G>A | p.R350H | Missense | 7/16 | - | 1 |
19-881652-G-A | c.1048C>T | p.R350C | Missense | 7/16 | - | 1 |
19-881653-G-A | c.1047C>T | p.D349= | Synonymous | 7/16 | - | 2 |
19-881655-C-T | c.1045G>A | p.D349N | Missense | 7/16 | - | 1 |
19-881656-C-A | c.1044G>T | p.L348= | Synonymous | 7/16 | - | 1 |
19-881656-C-G | c.1044G>C | p.L348= | Synonymous | 7/16 | - | 1 |
19-881656-C-T | c.1044G>A | p.L348= | Synonymous | 7/16 | - | 1 |
19-881658-G-A | c.1042C>T | p.L348= | Synonymous | 7/16 | - | 2 |
19-881661-C-T | c.1039G>A | p.D347N | Missense | 7/16 | - | 2 |
19-881662-G-A | c.1038C>T | p.N346= | Synonymous | 7/16 | - | 1 |
19-881667-T-C | c.1033A>G | p.T345A | Missense | 7/16 | - | 1 |
19-881672-G-A | c.1028C>T | p.S343L | Missense | 7/16 | - | 1 |
19-881672-G-T | c.1028C>A | p.S343* | Nonsense | 7/16 | - | 1 |
19-881676-G-T | c.1024C>A | p.L342I | Missense | 7/16 | - | 4 |
19-881679-T-G | c.1021A>C | p.I341L | Missense | 7/16 | - | 1 |
19-881681-C-G | c.1019G>C | p.R340P | Missense | 7/16 | - | 1 |
19-881681-C-T | c.1019G>A | p.R340Q | Missense | 7/16 | - | 1 |
19-881682-G-A | c.1018C>T | p.R340W | Missense | 7/16 | - | 3 |
19-881686-T-C | c.1014A>G | p.K338= | Synonymous | 7/16 | - | 1 |
19-881689-G-A | c.1011C>T | p.L337= | Synonymous | 7/16 | - | 1 |
19-881689-G-C | c.1011C>G | p.L337= | Synonymous | 7/16 | - | 1 |
19-881689-G-T | c.1011C>A | p.L337= | Synonymous | 7/16 | - | 1 |
19-881695-T-C | c.1005A>G | p.T335= | Synonymous | 7/16 | - | 1 |
19-881704-T-C | c.996A>G | p.K332= | Synonymous | 7/16 | - | 2 |
19-881706-T-G | c.994A>C | p.K332Q | Missense | 7/16 | - | 1 |
19-881711-C-T | c.989G>A | p.G330D | Missense | 7/16 | - | 1 |
19-882694-G-A | c.986-980C>T | - | IntronicSNV | - | 6/15 | 1 |
19-884660-T-C | c.985+243A>G | - | IntronicSNV | - | 6/15 | 1 |
19-884782-C-G | c.985+121G>C | - | IntronicSNV | - | 6/15 | 6 |
19-884782-C-T | c.985+121G>A | - | IntronicSNV | - | 6/15 | 2 |
19-884906-C-A | c.982G>T | p.V328L | Missense | 6/16 | - | 1 |
19-884906-C-G | c.982G>C | p.V328L | Missense | 6/16 | - | 1 |
19-884907-G-A | c.981C>T | p.P327= | Synonymous | 6/16 | - | 2 |
19-884907-G-C | c.981C>G | p.P327= | Synonymous | 6/16 | - | 2 |
19-884907-G-T | c.981C>A | p.P327= | Synonymous | 6/16 | - | 2 |
19-884908-G-A | c.980C>T | p.P327L | Missense | 6/16 | - | 2 |
19-884910-G-A | c.978C>T | p.S326= | Synonymous | 6/16 | - | 1 |
19-884910-G-C | c.978C>G | p.S326= | Synonymous | 6/16 | - | 1 |
19-884910-G-T | c.978C>A | p.S326= | Synonymous | 6/16 | - | 1 |
19-884912-A-T | c.976T>A | p.S326T | Missense | 6/16 | - | 1 |
19-884913-G-A | c.975C>T | p.I325= | Synonymous | 6/16 | - | 1 |
19-884913-G-T | c.975C>A | p.I325= | Synonymous | 6/16 | - | 1 |
19-884925-G-A | c.963C>T | p.I321= | Synonymous | 6/16 | - | 1 |
19-884925-G-T | c.963C>A | p.I321= | Synonymous | 6/16 | - | 1 |
19-884929-T-A | c.959A>T | p.N320I | Missense | 6/16 | - | 1 |
19-884935-AC-TA | c.952_953delinsTA | p.V318* | Nonsense | 6/16 | - | 2 |
19-884936-AC-A | c.952del | p.V318* | Frameshift | 6/16 | - | 1 |
19-884936-C-CTA | c.951_952insTA | p.V318* | Nonsense | 6/16 | - | 1 |
19-884936-C-T | c.952G>A | p.V318M | Missense | 6/16 | - | 1 |
19-884937-G-A | c.951C>T | p.P317= | Synonymous | 6/16 | - | 3 |
19-884938-G-C | c.950C>G | p.P317R | Missense | 6/16 | - | 1 |
19-884939-G-A | c.949C>T | p.P317S | Missense | 6/16 | - | 1 |
19-884946-C-T | c.942G>A | p.E314= | Synonymous | 6/16 | - | 2 |
19-884948-C-G | c.940G>C | p.E314Q | Missense | 6/16 | - | 1 |
19-884953-C-T | c.935G>A | p.R312H | Missense | 6/16 | - | 1 |
19-884958-G-A | c.930C>T | p.S310= | Synonymous | 6/16 | - | 1 |
19-884964-G-A | c.924C>T | p.C308= | Synonymous | 6/16 | - | 2 |
19-884972-C-T | c.916G>A | p.V306M | Missense | 6/16 | - | 1 |
19-884973-G-A | c.915C>T | p.I305= | Synonymous | 6/16 | - | 2 |
19-884973-G-C | c.915C>G | p.I305M | Missense | 6/16 | - | 7 |
19-884974-A-T | c.914T>A | p.I305N | Missense | 6/16 | - | 2 |
19-884977-CT-AG | c.910_911inv | p.S304L | Missense | 6/16 | - | 1 |
19-884983-G-C | c.905C>G | p.T302S | Missense | 6/16 | - | 1 |
19-884984-T-A | c.904A>T | p.T302S | Missense | 6/16 | - | 1 |
19-884985-C-A | c.903G>T | p.Q301H | Missense | 6/16 | - | 2 |
19-884985-C-G | c.903G>C | p.Q301H | Missense | 6/16 | - | 5 |
19-884985-C-T | c.903G>A | p.Q301= | Synonymous | 6/16 | - | 2 |
19-884987-G-A | c.901C>T | p.Q301* | Nonsense | 6/16 | - | 1 |
19-884992-G-A | c.896C>T | p.S299F | Missense | 6/16 | - | 4 |
19-884993-A-G | c.895T>C | p.S299P | Missense | 6/16 | - | 1 |
19-884994-C-T | c.894G>A | p.A298= | Synonymous | 6/16 | - | 1 |
19-884996-C-A | c.892G>T | p.A298S | Missense | 6/16 | - | 1 |
19-884997-G-A | c.891C>T | p.C297= | Synonymous | 6/16 | - | 1 |
19-884998-C-T | c.890G>A | p.C297Y | Missense | 6/16 | - | 1 |
19-885000-C-A | c.888G>T | p.L296F | Missense | 6/16 | - | 1 |
19-885000-C-G | c.888G>C | p.L296F | Missense | 6/16 | - | 1 |
19-885118-T-C | c.880-110A>G | - | IntronicSNV | - | 5/15 | 2 |
19-885398-G-C | c.879+372C>G | - | IntronicSNV | - | 5/15 | 1 |
19-885706-G-C | c.879+64C>G | - | IntronicSNV | - | 5/15 | 4 |
19-885777-G-A | c.872C>T | p.S291L | Missense | 5/16 | - | 2 |
19-885779-C-A | c.870G>T | p.M290I | Missense | 5/16 | - | 1 |
19-885779-C-G | c.870G>C | p.M290I | Missense | 5/16 | - | 1 |
19-885779-C-T | c.870G>A | p.M290I | Missense | 5/16 | - | 1 |
19-885786-C-T | c.863G>A | p.R288Q | Missense | 5/16 | - | 1 |
19-885788-G-A | c.861C>T | p.A287= | Synonymous | 5/16 | - | 1 |
19-885788-G-C | c.861C>G | p.A287= | Synonymous | 5/16 | - | 1 |
19-885788-G-T | c.861C>A | p.A287= | Synonymous | 5/16 | - | 1 |
19-885791-C-A | c.858G>T | p.L286= | Synonymous | 5/16 | - | 1 |
19-885791-C-G | c.858G>C | p.L286= | Synonymous | 5/16 | - | 1 |
19-885791-C-T | c.858G>A | p.L286= | Synonymous | 5/16 | - | 1 |
19-885793-G-A | c.856C>T | p.L286= | Synonymous | 5/16 | - | 1 |
19-885794-G-A | c.855C>T | p.F285= | Synonymous | 5/16 | - | 1 |
19-885802-G-T | c.847C>A | p.L283I | Missense | 5/16 | - | 1 |
19-885805-G-C | c.844C>G | p.H282D | Missense | 5/16 | - | 1 |
19-885810-A-G | c.839T>C | p.I280T | Missense | 5/16 | - | 1 |
19-885812-G-T | c.837C>A | p.A279= | Synonymous | 5/16 | - | 1 |
19-885816-G-A | c.833C>T | p.P278L | Missense | 5/16 | - | 1 |
19-885817-G-A | c.832C>T | p.P278S | Missense | 5/16 | - | 1 |
19-885818-A-G | c.831T>C | p.F277= | Synonymous | 5/16 | - | 18 |
19-885823-T-G | c.826A>C | p.K276Q | Missense | 5/16 | - | 1 |
19-885825-T-A | c.824A>T | p.D275V | Missense | 5/16 | - | 1 |
19-885831-C-A | c.818G>T | p.R273L | Missense | 5/16 | - | 1 |
19-885831-C-T | c.818G>A | p.R273H | Missense | 5/16 | - | 3 |
19-885832-G-A | c.817C>T | p.R273C | Missense | 5/16 | - | 2 |
19-885833-G-A | c.816C>T | p.N272= | Synonymous | 5/16 | - | 1 |
19-885838-G-A | c.811C>T | p.L271F | Missense | 5/16 | - | 4 |
19-885850-A-C | c.799T>G | p.C267G | Missense | 5/16 | - | 1 |
19-885852-C-T | c.797G>A | p.R266H | Missense | 5/16 | - | 2 |
19-885857-G-C | c.792C>G | p.F264L | Missense | 5/16 | - | 1 |
19-885857-G-T | c.792C>A | p.F264L | Missense | 5/16 | - | 1 |
19-885859-A-G | c.790T>C | p.F264L | Missense | 5/16 | - | 1 |
19-885862-G-T | c.787C>A | p.L263M | Missense | 5/16 | - | 2 |
19-885869-CAG-AAA | c.778_780delinsTTT | p.L260F | Missense | 5/16 | - | 1 |
19-885872-G-A | c.777C>T | p.I259= | Synonymous | 5/16 | - | 2 |
19-885879-G-A | c.770C>T | p.T257M | Missense | 5/16 | - | 1 |
19-885883-C-T | c.766G>A | p.D256N | Missense | 5/16 | - | 2 |
19-885886-T-A | c.763A>T | p.I255F | Missense | 5/16 | - | 1 |
19-885888-C-G | c.761G>C | p.R254P | Missense | 5/16 | - | 1 |
19-885888-C-T | c.761G>A | p.R254H | Missense | 5/16 | - | 2 |
19-885889-G-A | c.760C>T | p.R254C | Missense | 5/16 | - | 1 |
19-885899-G-A | c.750C>T | p.S250= | Synonymous | 5/16 | - | 1 |
19-885899-GCT-TCA | c.748_750delinsTGA | p.S250* | Nonsense | 5/16 | - | 1 |
19-885904-C-A | c.745G>T | p.V249L | Missense | 5/16 | - | 1 |
19-885904-C-G | c.745G>C | p.V249L | Missense | 5/16 | - | 1 |
19-885908-G-A | c.741C>T | p.S247= | Synonymous | 5/16 | - | 4 |
19-885910-T-A | c.739A>T | p.S247C | Missense | 5/16 | - | 1 |
19-885913-C-T | c.736G>A | p.V246M | Missense | 5/16 | - | 4 |
19-885914-G-T | c.735C>A | p.C245* | Nonsense | 5/16 | - | 1 |
19-885931-G-A | c.718C>T | p.Q240* | Nonsense | 5/16 | - | 2 |
19-885938-C-A | c.711G>T | p.S237= | Synonymous | 5/16 | - | 1 |
19-885938-C-G | c.711G>C | p.S237= | Synonymous | 5/16 | - | 1 |
19-885938-C-T | c.711G>A | p.S237= | Synonymous | 5/16 | - | 1 |
19-885941-C-A | c.708G>T | p.A236= | Synonymous | 5/16 | - | 1 |
19-885941-C-G | c.708G>C | p.A236= | Synonymous | 5/16 | - | 1 |
19-885941-C-T | c.708G>A | p.A236= | Synonymous | 5/16 | - | 2 |
19-885943-C-T | c.706G>A | p.A236T | Missense | 5/16 | - | 1 |
19-885944-G-C | c.705C>G | p.S235R | Missense | 5/16 | - | 4 |
19-885944-G-T | c.705C>A | p.S235R | Missense | 5/16 | - | 2 |
19-885946-T-G | c.703A>C | p.S235R | Missense | 5/16 | - | 2 |
19-885948-CT-GG | c.700_701delinsCC | p.S234P | Missense | 5/16 | - | 1 |
19-885952-C-T | c.697G>A | p.G233S | Missense | 5/16 | - | 1 |
19-885953-G-A | c.696C>T | p.D232= | Synonymous | 5/16 | - | 2 |
19-885956-C-T | c.693G>A | p.A231= | Synonymous | 5/16 | - | 1 |
19-885957-G-A | c.692C>T | p.A231V | Missense | 5/16 | - | 3 |
19-885958-C-A | c.691G>T | p.A231S | Missense | 5/16 | - | 1 |
19-885959-C-T | c.690G>A | p.T230= | Synonymous | 5/16 | - | 1 |
19-885965-C-T | c.684G>A | p.V228= | Synonymous | 5/16 | - | 1 |
19-885969-A-G | c.680T>C | p.V227A | Missense | 5/16 | - | 1 |
19-885970-C-T | c.679G>A | p.V227M | Missense | 5/16 | - | 2 |
19-885971-G-A | c.678C>T | p.I226= | Synonymous | 5/16 | - | 3 |
19-885978-C-G | c.671G>C | p.G224A | Missense | 5/16 | - | 2 |
19-885978-C-T | c.671G>A | p.G224D | Missense | 5/16 | - | 3 |
19-885979-C-T | c.670G>A | p.G224S | Missense | 5/16 | - | 2 |
19-885980-G-A | c.669C>T | p.G223= | Synonymous | 5/16 | - | 1 |
19-885980-G-C | c.669C>G | p.G223= | Synonymous | 5/16 | - | 1 |
19-885980-GCC-CCA | c.667_669delinsTGG | p.G223W | Missense | 5/16 | - | 1 |
19-885980-G-T | c.669C>A | p.G223= | Synonymous | 5/16 | - | 1 |
19-885985-C-T | c.664G>A | p.G222S | Missense | 5/16 | - | 1 |
19-885986-G-A | c.663C>T | p.T221= | Synonymous | 5/16 | - | 1 |
19-885986-G-C | c.663C>G | p.T221= | Synonymous | 5/16 | - | 1 |
19-885986-G-T | c.663C>A | p.T221= | Synonymous | 5/16 | - | 1 |
19-885987-G-A | c.662C>T | p.T221I | Missense | 5/16 | - | 3 |
19-885989-G-A | c.660C>T | p.F220= | Synonymous | 5/16 | - | 1 |
19-885998-G-A | c.651C>T | p.D217= | Synonymous | 5/16 | - | 1 |
19-886000-C-T | c.649G>A | p.D217N | Missense | 5/16 | - | 2 |
19-886001-G-A | c.648C>T | p.A216= | Synonymous | 5/16 | - | 4 |
19-886001-G-C | c.648C>G | p.A216= | Synonymous | 5/16 | - | 4 |
19-886007-G-A | c.642C>T | p.A214= | Synonymous | 5/16 | - | 1 |
19-886007-G-C | c.642C>G | p.A214= | Synonymous | 5/16 | - | 1 |
19-886007-G-T | c.642C>A | p.A214= | Synonymous | 5/16 | - | 1 |
19-886008-G-A | c.641C>T | p.A214V | Missense | 5/16 | - | 2 |
19-886010-C-A | c.639G>T | p.V213= | Synonymous | 5/16 | - | 2 |
19-886010-C-G | c.639G>C | p.V213= | Synonymous | 5/16 | - | 2 |
19-886010-C-T | c.639G>A | p.V213= | Synonymous | 5/16 | - | 2 |
19-886012-C-T | c.637G>A | p.V213M | Missense | 5/16 | - | 2 |
19-886014-C-T | c.635G>A | p.R212H | Missense | 5/16 | - | 2 |
19-886015-G-A | c.634C>T | p.R212C | Missense | 5/16 | - | 2 |
19-886017-C-T | c.632G>A | p.G211D | Missense | 5/16 | - | 1 |
19-886018-C-T | c.631G>A | p.G211S | Missense | 5/16 | - | 1 |
19-886028-G-A | c.621C>T | p.C207= | Synonymous | 5/16 | - | 1 |
19-886029-C-T | c.620G>A | p.C207Y | Missense | 5/16 | - | 1 |
19-886044-G-A | c.605C>T | p.S202F | Missense | 5/16 | - | 1 |
19-886045-A-G | c.604T>C | p.S202P | Missense | 5/16 | - | 1 |
19-886046-C-A | c.603G>T | p.T201= | Synonymous | 5/16 | - | 1 |
19-886046-C-G | c.603G>C | p.T201= | Synonymous | 5/16 | - | 1 |
19-886046-C-T | c.603G>A | p.T201= | Synonymous | 5/16 | - | 1 |
19-886047-G-T | c.602C>A | p.T201K | Missense | 5/16 | - | 1 |
19-886050-A-G | c.599T>C | p.L200P | Missense | 5/16 | - | 1 |
19-886053-A-G | c.596T>C | p.V199A | Missense | 5/16 | - | 1 |
19-886058-C-A | c.591G>T | p.G197= | Synonymous | 5/16 | - | 1 |
19-886058-C-G | c.591G>C | p.G197= | Synonymous | 5/16 | - | 1 |
19-886058-C-T | c.591G>A | p.G197= | Synonymous | 5/16 | - | 1 |
19-886060-C-T | c.589G>A | p.G197R | Missense | 5/16 | - | 1 |
19-886062-C-G | c.587G>C | p.S196T | Missense | 5/16 | - | 1 |
19-886062-CT-AG | c.586_587inv | p.S196L | Missense | 5/16 | - | 1 |
19-886066-G-C | c.583C>G | p.P195A | Missense | 5/16 | - | 1 |
19-886073-C-T | c.576G>A | p.L192= | Synonymous | 5/16 | - | 1 |
19-886076-G-A | c.573C>T | p.S191= | Synonymous | 5/16 | - | 1 |
19-886076-G-C | c.573C>G | p.S191= | Synonymous | 5/16 | - | 1 |
19-886076-G-T | c.573C>A | p.S191= | Synonymous | 5/16 | - | 1 |
19-886079-CAC-GAT | c.568_570delinsATC | p.V190I | Missense | 5/16 | - | 1 |
19-886081-C-T | c.568G>A | p.V190M | Missense | 5/16 | - | 1 |
19-886082-G-A | c.567C>T | p.T189= | Synonymous | 5/16 | - | 2 |
19-886082-G-C | c.567C>G | p.T189= | Synonymous | 5/16 | - | 1 |
19-886082-G-T | c.567C>A | p.T189= | Synonymous | 5/16 | - | 1 |
19-886084-T-G | c.565A>C | p.T189P | Missense | 5/16 | - | 1 |
19-886087-C-G | c.562G>C | p.V188L | Missense | 5/16 | - | 1 |
19-886088-C-A | c.561G>T | p.L187= | Synonymous | 5/16 | - | 1 |
19-886088-C-T | c.561G>A | p.L187= | Synonymous | 5/16 | - | 1 |
19-886091-G-A | c.558C>T | p.G186= | Synonymous | 5/16 | - | 1 |
19-886093-C-T | c.556G>A | p.G186S | Missense | 5/16 | - | 1 |
19-886094-G-A | c.555C>T | p.S185= | Synonymous | 5/16 | - | 1 |
19-886098-A-G | c.551T>C | p.V184A | Missense | 5/16 | - | 2 |
19-886101-G-A | c.548C>T | p.T183M | Missense | 5/16 | - | 1 |
19-886106-C-T | c.543G>A | p.A181= | Synonymous | 5/16 | - | 1 |
19-886108-C-A | c.541G>T | p.A181S | Missense | 5/16 | - | 1 |
19-886109-G-A | c.540C>T | p.I180= | Synonymous | 5/16 | - | 1 |
19-886110-A-G | c.539T>C | p.I180T | Missense | 5/16 | - | 1 |
19-886120-C-A | c.529G>T | p.E177* | Nonsense | 5/16 | - | 1 |
19-886121-C-A | c.528G>T | p.M176I | Missense | 5/16 | - | 1 |
19-886121-C-G | c.528G>C | p.M176I | Missense | 5/16 | - | 1 |
19-886121-C-T | c.528G>A | p.M176I | Missense | 5/16 | - | 1 |
19-886124-G-A | c.525C>T | p.P175= | Synonymous | 5/16 | - | 1 |
19-886124-G-C | c.525C>G | p.P175= | Synonymous | 5/16 | - | 1 |
19-886124-G-T | c.525C>A | p.P175= | Synonymous | 5/16 | - | 1 |
19-886127-C-A | c.522G>T | p.K174N | Missense | 5/16 | - | 1 |
19-886127-GCTT-G | c.520_522del | p.K174del | InFrameDeletion | 5/16 | - | 1 |
19-886135-C-T | c.514G>A | p.G172S | Missense | 5/16 | - | 1 |
19-886141-G-C | c.508C>G | p.L170V | Missense | 5/16 | - | 1 |
19-886144-T-G | c.505A>C | p.T169P | Missense | 5/16 | - | 1 |
19-886146-A-T | c.503T>A | p.L168H | Missense | 5/16 | - | 1 |
19-886149-G-A | c.500C>T | p.S167L | Missense | 5/16 | - | 1 |
19-886151-C-T | c.498G>A | p.P166= | Synonymous | 5/16 | - | 1 |
19-886152-G-A | c.497C>T | p.P166L | Missense | 5/16 | - | 1 |
19-886157-G-A | c.492C>T | p.F164= | Synonymous | 5/16 | - | 1 |
19-886157-G-C | c.492C>G | p.F164L | Missense | 5/16 | - | 1 |
19-886157-G-T | c.492C>A | p.F164L | Missense | 5/16 | - | 1 |
19-886159-A-G | c.490T>C | p.F164L | Missense | 5/16 | - | 4 |
19-886165-C-T | c.484G>A | p.V162I | Missense | 5/16 | - | 4 |
19-886166-TCG-ACA | c.481_483delinsTGT | p.R161C | Missense | 5/16 | - | 1 |
19-886167-C-T | c.482G>A | p.R161Q | Missense | 5/16 | - | 1 |
19-886168-G-A | c.481C>T | p.R161* | Nonsense | 5/16 | - | 2 |
19-886175-C-T | c.474G>A | p.K158= | Synonymous | 5/16 | - | 1 |
19-886183-C-A | c.466G>T | p.G156W | Missense | 5/16 | - | 1 |
19-886183-C-G | c.466G>C | p.G156R | Missense | 5/16 | - | 1 |
19-886183-C-T | c.466G>A | p.G156R | Missense | 5/16 | - | 1 |
19-886184-G-A | c.465C>T | p.F155= | Synonymous | 5/16 | - | 2 |
19-886192-A-G | c.457T>C | p.S153P | Missense | 5/16 | - | 1 |
19-886193-G-A | c.456C>T | p.A152= | Synonymous | 5/16 | - | 1 |
19-886194-G-T | c.455C>A | p.A152D | Missense | 5/16 | - | 1 |
19-886198-C-T | c.451G>A | p.G151S | Missense | 5/16 | - | 2 |
19-886200-GA-CC | c.448_449delinsGG | p.S150G | Missense | 5/16 | - | 1 |
19-886224-G-A | c.448-23C>T | - | IntronicSNV | - | 4/15 | 1 |
19-886224-G-T | c.448-23C>A | - | IntronicSNV | - | 4/15 | 1 |
19-886232-C-T | c.448-31G>A | - | IntronicSNV | - | 4/15 | 1 |
19-886257-A-G | c.448-56T>C | - | IntronicSNV | - | 4/15 | 3 |
19-887128-A-C | c.448-927T>G | - | IntronicSNV | - | 4/15 | 1 |
19-887128-A-G | c.448-927T>C | - | IntronicSNV | - | 4/15 | 1 |
19-889564-G-A | c.447+74C>T | - | IntronicSNV | - | 4/15 | 1 |
19-889623-G-A | c.447+15C>T | - | IntronicSNV | - | 4/15 | 2 |
19-889623-G-C | c.447+15C>G | - | IntronicSNV | - | 4/15 | 2 |
19-889647-G-A | c.438C>T | p.H146= | Synonymous | 4/16 | - | 2 |
19-889651-AG-CA | c.433_434delinsTG | p.L145W | Missense | 4/16 | - | 2 |
19-889653-G-A | c.432C>T | p.A144= | Synonymous | 4/16 | - | 1 |
19-889653-G-C | c.432C>G | p.A144= | Synonymous | 4/16 | - | 1 |
19-889653-G-T | c.432C>A | p.A144= | Synonymous | 4/16 | - | 1 |
19-889654-G-A | c.431C>T | p.A144V | Missense | 4/16 | - | 1 |
19-889662-C-A | c.423G>T | p.V141= | Synonymous | 4/16 | - | 1 |
19-889662-C-G | c.423G>C | p.V141= | Synonymous | 4/16 | - | 1 |
19-889662-C-T | c.423G>A | p.V141= | Synonymous | 4/16 | - | 1 |
19-889669-T-A | c.416A>T | p.N139I | Missense | 4/16 | - | 2 |
19-889673-G-A | c.412C>T | p.H138Y | Missense | 4/16 | - | 2 |
19-889676-G-C | c.409C>G | p.L137V | Missense | 4/16 | - | 1 |
19-889680-G-A | c.405C>T | p.S135= | Synonymous | 4/16 | - | 2 |
19-889680-G-C | c.405C>G | p.S135= | Synonymous | 4/16 | - | 1 |
19-889680-G-T | c.405C>A | p.S135= | Synonymous | 4/16 | - | 1 |
19-889681-G-C | c.404C>G | p.S135C | Missense | 4/16 | - | 1 |
19-889685-G-T | c.400C>A | p.L134M | Missense | 4/16 | - | 2 |
19-889686-G-A | c.399C>T | p.A133= | Synonymous | 4/16 | - | 1 |
19-889686-G-C | c.399C>G | p.A133= | Synonymous | 4/16 | - | 1 |
19-889688-C-T | c.397G>A | p.A133T | Missense | 4/16 | - | 1 |
19-889701-C-T | c.384G>A | p.G128= | Synonymous | 4/16 | - | 1 |
19-889703-C-T | c.382G>A | p.G128R | Missense | 4/16 | - | 2 |
19-889704-C-T | c.381G>A | p.E127= | Synonymous | 4/16 | - | 1 |
19-889711-AG-GC | c.373_374delinsGC | p.L125A | Missense | 4/16 | - | 1 |
19-889714-CT-GG | c.370_371delinsCC | p.S124P | Missense | 4/16 | - | 1 |
19-889718-C-T | c.367G>A | p.G123S | Missense | 4/16 | - | 1 |
19-889723-TG-T | c.362del | p.S121* | Frameshift | 4/16 | - | 1 |
19-889726-C-A | c.359G>T | p.S120I | Missense | 4/16 | - | 1 |
19-889728-C-A | c.357G>T | p.E119D | Missense | 4/16 | - | 1 |
19-889728-C-G | c.357G>C | p.E119D | Missense | 4/16 | - | 3 |
19-889729-T-G | c.356A>C | p.E119A | Missense | 4/16 | - | 1 |
19-889730-C-G | c.355G>C | p.E119Q | Missense | 4/16 | - | 1 |
19-889731-C-T | c.354G>A | p.W118* | Nonsense | 4/16 | - | 1 |
19-889732-C-T | c.353G>A | p.W118* | Nonsense | 4/16 | - | 1 |
19-889733-A-G | c.352T>C | p.W118R | Missense | 4/16 | - | 1 |
19-889733-A-T | c.352T>A | p.W118R | Missense | 4/16 | - | 1 |
19-889747-T-G | c.338A>C | p.H113P | Missense | 4/16 | - | 1 |
19-889748-G-T | c.337C>A | p.H113N | Missense | 4/16 | - | 1 |
19-889751-C-T | c.334G>A | p.D112N | Missense | 4/16 | - | 1 |
19-889753-G-A | c.332C>T | p.A111V | Missense | 4/16 | - | 2 |
19-889754-C-T | c.331G>A | p.A111T | Missense | 4/16 | - | 3 |
19-889757-T-C | c.328A>G | p.M110V | Missense | 4/16 | - | 1 |
19-889761-C-T | c.324G>A | p.W108* | Nonsense | 4/16 | - | 1 |
19-889762-C-T | c.323G>A | p.W108* | Nonsense | 4/16 | - | 1 |
19-889763-A-G | c.322T>C | p.W108R | Missense | 4/16 | - | 1 |
19-889765-CA-GT | c.319_320delinsAC | p.C107T | Missense | 4/16 | - | 1 |
19-889770-G-A | c.315C>T | p.I105= | Synonymous | 4/16 | - | 2 |
19-889771-A-G | c.314T>C | p.I105T | Missense | 4/16 | - | 1 |
19-889772-T-C | c.313A>G | p.I105V | Missense | 4/16 | - | 1 |
19-889775-G-A | c.310C>T | p.Q104* | Nonsense | 4/16 | - | 1 |
19-889778-C-G | c.307G>C | p.G103R | Missense | 4/16 | - | 2 |
19-889778-C-T | c.307G>A | p.G103R | Missense | 4/16 | - | 2 |
19-889781-C-T | c.304G>A | p.D102N | Missense | 4/16 | - | 2 |
19-889782-G-A | c.303C>T | p.A101= | Synonymous | 4/16 | - | 1 |
19-889783-G-C | c.302C>G | p.A101G | Missense | 4/16 | - | 1 |
19-889792-GA-CT | c.292_293delinsAG | p.S98R | Missense | 4/16 | - | 1 |
19-889797-GA-TT | c.287_288delinsAA | p.L96Q | Missense | 4/16 | - | 1 |
19-889799-G-A | c.286C>T | p.L96F | Missense | 4/16 | - | 1 |
19-889800-CC-AT | c.284_285delinsAT | p.R95H | Missense | 4/16 | - | 1 |
19-889805-A-G | c.280T>C | p.S94P | Missense | 4/16 | - | 1 |
19-889806-G-A | c.279C>T | p.G93= | Synonymous | 4/16 | - | 1 |
19-889821-G-A | c.278-14C>T | - | IntronicSNV | - | 3/15 | 1 |
19-890073-C-T | c.277+64G>A | - | IntronicSNV | - | 3/15 | 1 |
19-890092-G-A | c.277+45C>T | - | IntronicSNV | - | 3/15 | 1 |
19-890099-G-A | c.277+38C>T | - | IntronicSNV | - | 3/15 | 1 |
19-890139-G-A | c.275C>T | p.S92L | Missense | 3/16 | - | 1 |
19-890153-C-A | c.261G>T | p.L87= | Synonymous | 3/16 | - | 1 |
19-890153-C-G | c.261G>C | p.L87= | Synonymous | 3/16 | - | 1 |
19-890153-C-T | c.261G>A | p.L87= | Synonymous | 3/16 | - | 1 |
19-890155-G-A | c.259C>T | p.L87= | Synonymous | 3/16 | - | 1 |
19-890156-G-A | c.258C>T | p.C86= | Synonymous | 3/16 | - | 1 |
19-890156-G-T | c.258C>A | p.C86* | Nonsense | 3/16 | - | 1 |
19-890159-G-A | c.255C>T | p.T85= | Synonymous | 3/16 | - | 2 |
19-890159-G-C | c.255C>G | p.T85= | Synonymous | 3/16 | - | 1 |
19-890159-G-T | c.255C>A | p.T85= | Synonymous | 3/16 | - | 1 |
19-890161-T-G | c.253A>C | p.T85P | Missense | 3/16 | - | 1 |
19-890165-G-A | c.249C>T | p.A83= | Synonymous | 3/16 | - | 6 |
19-890165-G-C | c.249C>G | p.A83= | Synonymous | 3/16 | - | 2 |
19-890165-G-T | c.249C>A | p.A83= | Synonymous | 3/16 | - | 2 |
19-890169-T-C | c.245A>G | p.E82G | Missense | 3/16 | - | 1 |
19-890170-C-T | c.244G>A | p.E82K | Missense | 3/16 | - | 4 |
19-890171-G-A | c.243C>T | p.H81= | Synonymous | 3/16 | - | 1 |
19-890176-G-A | c.238C>T | p.H80Y | Missense | 3/16 | - | 1 |
19-890182-A-G | c.232T>C | p.S78P | Missense | 3/16 | - | 1 |
19-890184-G-T | c.230C>A | p.P77H | Missense | 3/16 | - | 1 |
19-890191-A-G | c.223T>C | p.S75P | Missense | 3/16 | - | 1 |
19-890194-G-A | c.220C>T | p.H74Y | Missense | 3/16 | - | 1 |
19-890197-G-A | c.217C>T | p.L73= | Synonymous | 3/16 | - | 1 |
19-890200-C-A | c.214G>T | p.D72Y | Missense | 3/16 | - | 2 |
19-890216-G-A | c.198C>T | p.D66= | Synonymous | 3/16 | - | 1 |
19-890218-C-CA | c.195_196insT | p.D66* | Nonsense | 3/16 | - | 1 |
19-890219-CAG-AAA | c.193_195delinsTTT | p.L65F | Missense | 3/16 | - | 1 |
19-890221-G-T | c.193C>A | p.L65M | Missense | 3/16 | - | 3 |
19-890227-G-A | c.187C>T | p.H63Y | Missense | 3/16 | - | 1 |
19-890231-C-A | c.183G>T | p.M61I | Missense | 3/16 | - | 2 |
19-890231-C-G | c.183G>C | p.M61I | Missense | 3/16 | - | 1 |
19-890231-C-T | c.183G>A | p.M61I | Missense | 3/16 | - | 1 |
19-890235-C-T | c.179G>A | p.R60H | Missense | 3/16 | - | 2 |
19-890237-G-T | c.177C>A | p.T59= | Synonymous | 3/16 | - | 1 |
19-890238-G-A | c.176C>T | p.T59I | Missense | 3/16 | - | 1 |
19-890238-G-C | c.176C>G | p.T59S | Missense | 3/16 | - | 1 |
19-890239-T-C | c.175A>G | p.T59A | Missense | 3/16 | - | 1 |
19-890295-G-A | c.170-51C>T | - | IntronicSNV | - | 2/15 | 1 |
19-890310-A-G | c.170-66T>C | - | IntronicSNV | - | 2/15 | 1 |
19-890844-A-C | c.169+119T>G | - | IntronicSNV | - | 2/15 | 1 |
19-890844-A-G | c.169+119T>C | - | IntronicSNV | - | 2/15 | 2 |
19-890881-T-G | c.169+82A>C | - | IntronicSNV | - | 2/15 | 2 |
19-890945-G-GGCGCCGC | c.-19+204_-19+205insGCGGCGC | - | IntronicInsertion | - | 1/15 | 1 |
19-890968-GT-G | c.164del | p.D55Afs*4 | Frameshift | 2/16 | - | 1 |
19-890972-C-T | c.160G>A | p.D54N | Missense | 2/16 | - | 1 |
19-890974-C-T | c.158G>A | p.S53N | Missense | 2/16 | - | 1 |
19-890977-C-T | c.155G>A | p.R52H | Missense | 2/16 | - | 2 |
19-890985-C-A | c.147G>T | p.M49I | Missense | 2/16 | - | 1 |
19-890985-C-G | c.147G>C | p.M49I | Missense | 2/16 | - | 1 |
19-890985-C-T | c.147G>A | p.M49I | Missense | 2/16 | - | 1 |
19-890996-C-T | c.136G>A | p.A46T | Missense | 2/16 | - | 4 |
19-891000-G-A | c.132C>T | p.L44= | Synonymous | 2/16 | - | 1 |
19-891000-G-C | c.132C>G | p.L44= | Synonymous | 2/16 | - | 1 |
19-891000-G-T | c.132C>A | p.L44= | Synonymous | 2/16 | - | 1 |
19-891007-C-T | c.125G>A | p.R42Q | Missense | 2/16 | - | 2 |
19-891008-G-A | c.124C>T | p.R42* | Nonsense | 2/16 | - | 1 |
19-891012-G-A | c.120C>T | p.S40= | Synonymous | 2/16 | - | 1 |
19-891012-G-C | c.120C>G | p.S40= | Synonymous | 2/16 | - | 1 |
19-891012-G-T | c.120C>A | p.S40= | Synonymous | 2/16 | - | 1 |
19-891013-G-C | c.119C>G | p.S40C | Missense | 2/16 | - | 1 |
19-891014-A-G | c.118T>C | p.S40P | Missense | 2/16 | - | 1 |
19-891015-C-A | c.117G>T | p.W39C | Missense | 2/16 | - | 2 |
19-891017-A-G | c.115T>C | p.W39R | Missense | 2/16 | - | 1 |
19-891017-A-T | c.115T>A | p.W39R | Missense | 2/16 | - | 1 |
19-891020-C-T | c.112G>A | p.A38T | Missense | 2/16 | - | 1 |
19-891021-G-A | c.111C>T | p.C37= | Synonymous | 2/16 | - | 1 |
19-891022-C-T | c.110G>A | p.C37Y | Missense | 2/16 | - | 1 |
19-891027-C-A | c.105G>T | p.L35= | Synonymous | 2/16 | - | 1 |
19-891027-C-G | c.105G>C | p.L35= | Synonymous | 2/16 | - | 1 |
19-891027-C-T | c.105G>A | p.L35= | Synonymous | 2/16 | - | 1 |
19-891029-G-A | c.103C>T | p.L35= | Synonymous | 2/16 | - | 1 |
19-891028-A-G | c.104T>C | p.L35P | Missense | 2/16 | - | 1 |
19-891030-G-A | c.102C>T | p.P34= | Synonymous | 2/16 | - | 1 |
19-891037-G-A | c.95C>T | p.S32L | Missense | 2/16 | - | 2 |
19-891038-A-G | c.94T>C | p.S32P | Missense | 2/16 | - | 1 |
19-891040-G-A | c.92C>T | p.P31L | Missense | 2/16 | - | 1 |
19-891046-T-G | c.86A>C | p.H29P | Missense | 2/16 | - | 1 |
19-891048-G-T | c.84C>A | p.T28= | Synonymous | 2/16 | - | 1 |
19-891055-T-C | c.77A>G | p.K26R | Missense | 2/16 | - | 1 |
19-891061-C-T | c.71G>A | p.W24* | Nonsense | 2/16 | - | 1 |
19-891075-A-G | c.57T>C | p.C19= | Synonymous | 2/16 | - | 1 |
19-891080-C-G | c.52G>C | p.V18L | Missense | 2/16 | - | 1 |
19-891080-C-T | c.52G>A | p.V18I | Missense | 2/16 | - | 3 |
19-891081-G-A | c.51C>T | p.Y17= | Synonymous | 2/16 | - | 1 |
19-891081-G-T | c.51C>A | p.Y17* | Nonsense | 2/16 | - | 1 |
19-891084-G-A | c.48C>T | p.A16= | Synonymous | 2/16 | - | 1 |
19-891085-GC-AA | c.46_47delinsTT | p.A16F | Missense | 2/16 | - | 1 |
19-891095-T-A | c.37A>T | p.M13L | Missense | 2/16 | - | 1 |
19-891095-T-G | c.37A>C | p.M13L | Missense | 2/16 | - | 1 |
19-891096-C-A | c.36G>T | p.M12I | Missense | 2/16 | - | 1 |
19-891096-C-G | c.36G>C | p.M12I | Missense | 2/16 | - | 1 |
19-891096-C-T | c.36G>A | p.M12I | Missense | 2/16 | - | 3 |
19-891097-AT-GC | c.34_35delinsGC | p.M12A | Missense | 2/16 | - | 1 |
19-891099-CCC-GCT | c.31_33delinsAGC | p.G11S | Missense | 2/16 | - | 1 |
19-891099-CC-GT | c.32_33delinsAC | p.G11D | Missense | 2/16 | - | 1 |
19-891102-A-C | c.30T>G | p.G10= | Synonymous | 2/16 | - | 2 |
19-891102-A-G | c.30T>C | p.G10= | Synonymous | 2/16 | - | 1 |
19-891102-A-T | c.30T>A | p.G10= | Synonymous | 2/16 | - | 1 |
19-891109-G-A | c.23C>T | p.A8V | Missense | 2/16 | - | 1 |
19-891112-G-A | c.20C>T | p.P7L | Missense | 2/16 | - | 1 |
19-891115-C-T | c.17G>A | p.R6Q | Missense | 2/16 | - | 1 |
19-891116-G-A | c.16C>T | p.R6W | Missense | 2/16 | - | 1 |
19-891119-G-A | c.13C>T | p.R5W | Missense | 2/16 | - | 1 |
19-891123-A-T | c.9T>A | p.D3E | Missense | 2/16 | - | 1 |
19-891124-T-A | c.8A>T | p.D3V | Missense | 2/16 | - | 1 |
19-891125-C-T | c.7G>A | p.D3N | Missense | 2/16 | - | 1 |
19-891156-G-T | c.-18-7C>A | - | IntronicSNV | - | 1/15 | 1 |