Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
11-75298108-G-T | c.2438C>A | p.P813H | Missense | 4/4 | - | 1 |
11-75298116-C-A | c.2430G>T | p.E810D | Missense | 4/4 | - | 2 |
11-75298116-C-G | c.2430G>C | p.E810D | Missense | 4/4 | - | 3 |
11-75298120-A-T | c.2426T>A | p.I809N | Missense | 4/4 | - | 1 |
11-75298121-T-A | c.2425A>T | p.I809F | Missense | 4/4 | - | 1 |
11-75298121-T-TTCGAGCCCGACCTTCACAC | c.2424_2425insGTGTGAAGGTCGGGCTCGA | p.I809Vfs*2 | Frameshift | 4/4 | - | 1 |
11-75298123-T-C | c.2423A>G | p.Y808C | Missense | 4/4 | - | 1 |
11-75298128-C-A | c.2418G>T | p.T806= | Synonymous | 4/4 | - | 2 |
11-75298128-C-G | c.2418G>C | p.T806= | Synonymous | 4/4 | - | 1 |
11-75298128-C-T | c.2418G>A | p.T806= | Synonymous | 4/4 | - | 2 |
11-75298129-G-A | c.2417C>T | p.T806M | Missense | 4/4 | - | 7 |
11-75298135-G-A | c.2411C>T | p.P804L | Missense | 4/4 | - | 1 |
11-75298132-T-TG | c.2413dup | p.H805Pfs*6 | Frameshift | 4/4 | - | 1 |
11-75298141-G-C | c.2405C>G | p.T802S | Missense | 4/4 | - | 1 |
11-75298152-G-A | c.2394C>T | p.V798= | Synonymous | 4/4 | - | 1 |
11-75298153-A-G | c.2393T>C | p.V798A | Missense | 4/4 | - | 1 |
11-75298155-T-A | c.2391A>T | p.R797= | Synonymous | 4/4 | - | 1 |
11-75298155-T-C | c.2391A>G | p.R797= | Synonymous | 4/4 | - | 1 |
11-75298155-T-G | c.2391A>C | p.R797= | Synonymous | 4/4 | - | 1 |
11-75298157-G-A | c.2389C>T | p.R797* | Nonsense | 4/4 | - | 3 |
11-75298157-G-T | c.2389C>A | p.R797= | Synonymous | 4/4 | - | 1 |
11-75298181-G-A | c.2365C>T | p.L789= | Synonymous | 4/4 | - | 2 |
11-75298191-C-T | c.2355G>A | p.R785= | Synonymous | 4/4 | - | 1 |
11-75298203-A-T | c.2343T>A | p.T781= | Synonymous | 4/4 | - | 1 |
11-75298204-G-T | c.2342C>A | p.T781N | Missense | 4/4 | - | 1 |
11-75298206-C-T | c.2340G>A | p.K780= | Synonymous | 4/4 | - | 2 |
11-75298211-G-C | c.2335C>G | p.L779V | Missense | 4/4 | - | 4 |
11-75298229-G-A | c.2317C>T | p.P773S | Missense | 4/4 | - | 4 |
11-75298230-A-C | c.2316T>G | p.G772= | Synonymous | 4/4 | - | 1 |
11-75298230-A-G | c.2316T>C | p.G772= | Synonymous | 4/4 | - | 1 |
11-75298230-A-T | c.2316T>A | p.G772= | Synonymous | 4/4 | - | 1 |
11-75298238-C-T | c.2308G>A | p.D770N | Missense | 4/4 | - | 1 |
11-75298242-T-G | c.2304A>C | p.A768= | Synonymous | 4/4 | - | 1 |
11-75298246-G-A | c.2300C>T | p.P767L | Missense | 4/4 | - | 3 |
11-75298262-G-A | c.2284C>T | p.P762S | Missense | 4/4 | - | 3 |
11-75298265-C-T | c.2281G>A | p.D761N | Missense | 4/4 | - | 1 |
11-75298283-C-A | c.2263G>T | p.V755L | Missense | 4/4 | - | 1 |
11-75298283-C-G | c.2263G>C | p.V755L | Missense | 4/4 | - | 1 |
11-75298294-G-A | c.2252C>T | p.P751L | Missense | 4/4 | - | 1 |
11-75298295-G-A | c.2251C>T | p.P751S | Missense | 4/4 | - | 2 |
11-75298295-G-T | c.2251C>A | p.P751T | Missense | 4/4 | - | 1 |
11-75298303-T-G | c.2243A>C | p.N748T | Missense | 4/4 | - | 1 |
11-75298305-C-A | c.2241G>T | p.K747N | Missense | 4/4 | - | 2 |
11-75298313-G-T | c.2233C>A | p.P745T | Missense | 4/4 | - | 1 |
11-75298316-C-T | c.2230G>A | p.E744K | Missense | 4/4 | - | 1 |
11-75298318-G-A | c.2228C>T | p.P743L | Missense | 4/4 | - | 1 |
11-75298319-G-A | c.2227C>T | p.P743S | Missense | 4/4 | - | 2 |
11-75298321-A-C | c.2225T>G | p.V742G | Missense | 4/4 | - | 1 |
11-75298322-C-A | c.2224G>T | p.V742F | Missense | 4/4 | - | 1 |
11-75298324-A-G | c.2222T>C | p.I741T | Missense | 4/4 | - | 1 |
11-75298326-ACG-TCA | c.2218_2220delinsTGA | p.R740* | Nonsense | 4/4 | - | 1 |
11-75298327-C-T | c.2219G>A | p.R740H | Missense | 4/4 | - | 3 |
11-75298328-G-A | c.2218C>T | p.R740C | Missense | 4/4 | - | 4 |
11-75298328-G-T | c.2218C>A | p.R740S | Missense | 4/4 | - | 1 |
11-75298331-C-A | c.2215G>T | p.G739C | Missense | 4/4 | - | 1 |
11-75298331-C-T | c.2215G>A | p.G739S | Missense | 4/4 | - | 1 |
11-75298332-T-G | c.2214A>C | p.Q738H | Missense | 4/4 | - | 1 |
11-75298336-T-C | c.2210A>G | p.N737S | Missense | 4/4 | - | 3 |
11-75298350-T-A | c.2196A>T | p.L732= | Synonymous | 4/4 | - | 1 |
11-75298350-T-C | c.2196A>G | p.L732= | Synonymous | 4/4 | - | 1 |
11-75298350-T-G | c.2196A>C | p.L732= | Synonymous | 4/4 | - | 1 |
11-75298352-G-A | c.2194C>T | p.L732= | Synonymous | 4/4 | - | 1 |
11-75298352-G-T | c.2194C>A | p.L732I | Missense | 4/4 | - | 1 |
11-75298355-C-A | c.2191G>T | p.V731F | Missense | 4/4 | - | 2 |
11-75298358-T-A | c.2188A>T | p.T730S | Missense | 4/4 | - | 1 |
11-75298360-G-A | c.2186C>T | p.P729L | Missense | 4/4 | - | 2 |
11-75298367-G-C | c.2179C>G | p.Q727E | Missense | 4/4 | - | 3 |
11-75298370-C-T | c.2176G>A | p.D726N | Missense | 4/4 | - | 4 |
11-75298371-C-T | c.2175G>A | p.K725= | Synonymous | 4/4 | - | 1 |
11-75298375-A-G | c.2171T>C | p.V724A | Missense | 4/4 | - | 1 |
11-75298379-G-A | c.2167C>T | p.L723= | Synonymous | 4/4 | - | 1 |
11-75298392-G-A | c.2154C>T | p.P718= | Synonymous | 4/4 | - | 1 |
11-75298404-C-A | c.2142G>T | p.K714N | Missense | 4/4 | - | 2 |
11-75298404-C-G | c.2142G>C | p.K714N | Missense | 4/4 | - | 1 |
11-75298407-CAC-GAT | c.2137_2139delinsATC | p.V713I | Missense | 4/4 | - | 1 |
11-75298409-C-T | c.2137G>A | p.V713M | Missense | 4/4 | - | 8 |
11-75298410-G-A | c.2136C>T | p.S712= | Synonymous | 4/4 | - | 1 |
11-75298411-G-A | c.2135C>T | p.S712F | Missense | 4/4 | - | 4 |
11-75298411-G-T | c.2135C>A | p.S712Y | Missense | 4/4 | - | 1 |
11-75298412-A-T | c.2134T>A | p.S712T | Missense | 4/4 | - | 1 |
11-75298415-C-T | c.2131G>A | p.E711K | Missense | 4/4 | - | 1 |
11-75298416-G-A | c.2130C>T | p.P710= | Synonymous | 4/4 | - | 2 |
11-75298416-G-C | c.2130C>G | p.P710= | Synonymous | 4/4 | - | 1 |
11-75298416-G-T | c.2130C>A | p.P710= | Synonymous | 4/4 | - | 1 |
11-75298418-G-A | c.2128C>T | p.P710S | Missense | 4/4 | - | 1 |
11-75298421-C-G | c.2125G>C | p.V709L | Missense | 4/4 | - | 1 |
11-75298422-C-A | c.2124G>T | p.V708= | Synonymous | 4/4 | - | 1 |
11-75298422-C-G | c.2124G>C | p.V708= | Synonymous | 4/4 | - | 1 |
11-75298422-C-T | c.2124G>A | p.V708= | Synonymous | 4/4 | - | 1 |
11-75298426-G-A | c.2120C>T | p.P707L | Missense | 4/4 | - | 2 |
11-75298427-G-A | c.2119C>T | p.P707S | Missense | 4/4 | - | 3 |
11-75298429-C-T | c.2117G>A | p.G706D | Missense | 4/4 | - | 1 |
11-75298430-C-T | c.2116G>A | p.G706S | Missense | 4/4 | - | 1 |
11-75298435-T-G | c.2111A>C | p.N704T | Missense | 4/4 | - | 1 |
11-75298453-A-G | c.2093T>C | p.V698A | Missense | 4/4 | - | 1 |
11-75298454-C-T | c.2092G>A | p.V698I | Missense | 4/4 | - | 1 |
11-75298455-T-A | c.2091A>T | p.A697= | Synonymous | 4/4 | - | 1 |
11-75298455-T-C | c.2091A>G | p.A697= | Synonymous | 4/4 | - | 1 |
11-75298455-T-G | c.2091A>C | p.A697= | Synonymous | 4/4 | - | 1 |
11-75298463-C-T | c.2083G>A | p.D695N | Missense | 4/4 | - | 3 |
11-75298464-G-A | c.2082C>T | p.H694= | Synonymous | 4/4 | - | 2 |
11-75298464-G-C | c.2082C>G | p.H694Q | Missense | 4/4 | - | 1 |
11-75298464-G-T | c.2082C>A | p.H694Q | Missense | 4/4 | - | 1 |
11-75298468-A-C | c.2078T>G | p.V693G | Missense | 4/4 | - | 10 |
11-75298473-T-G | c.2073A>C | p.A691= | Synonymous | 4/4 | - | 3 |
11-75298475-C-T | c.2071G>A | p.A691T | Missense | 4/4 | - | 1 |
11-75298476-A-G | c.2070T>C | p.H690= | Synonymous | 4/4 | - | 1 |
11-75298484-G-T | c.2062C>A | p.P688T | Missense | 4/4 | - | 1 |
11-75298497-T-C | c.2049A>G | p.Q683= | Synonymous | 4/4 | - | 1 |
11-75298536-C-A | c.2010G>T | p.K670N | Missense | 4/4 | - | 4 |
11-75298536-C-G | c.2010G>C | p.K670N | Missense | 4/4 | - | 3 |
11-75298539-T-C | c.2007A>G | p.V669= | Synonymous | 4/4 | - | 1 |
11-75298539-T-G | c.2007A>C | p.V669= | Synonymous | 4/4 | - | 1 |
11-75298556-T-C | c.1990A>G | p.M664V | Missense | 4/4 | - | 2 |
11-75298558-G-A | c.1988C>T | p.S663F | Missense | 4/4 | - | 5 |
11-75298560-A-C | c.1986T>G | p.G662= | Synonymous | 4/4 | - | 1 |
11-75298560-A-G | c.1986T>C | p.G662= | Synonymous | 4/4 | - | 1 |
11-75298560-A-T | c.1986T>A | p.G662= | Synonymous | 4/4 | - | 1 |
11-75298562-C-A | c.1984G>T | p.G662C | Missense | 4/4 | - | 1 |
11-75298562-C-G | c.1984G>C | p.G662R | Missense | 4/4 | - | 2 |
11-75298566-A-C | c.1980T>G | p.N660K | Missense | 4/4 | - | 1 |
11-75298569-C-T | c.1977G>A | p.K659= | Synonymous | 4/4 | - | 3 |
11-75298580-C-T | c.1966G>A | p.A656T | Missense | 4/4 | - | 2 |
11-75298583-T-C | c.1963A>G | p.T655A | Missense | 4/4 | - | 1 |
11-75298585-G-A | c.1961C>T | p.A654V | Missense | 4/4 | - | 1 |
11-75298587-C-A | c.1959G>T | p.M653I | Missense | 4/4 | - | 1 |
11-75298587-C-G | c.1959G>C | p.M653I | Missense | 4/4 | - | 1 |
11-75298587-C-T | c.1959G>A | p.M653I | Missense | 4/4 | - | 1 |
11-75298589-T-A | c.1957A>T | p.M653L | Missense | 4/4 | - | 1 |
11-75298589-T-C | c.1957A>G | p.M653V | Missense | 4/4 | - | 1 |
11-75298590-G-T | c.1956C>A | p.A652= | Synonymous | 4/4 | - | 2 |
11-75298593-A-G | c.1953T>C | p.S651= | Synonymous | 4/4 | - | 1 |
11-75298594-CT-AA | c.1951_1952delinsTT | p.S651F | Missense | 4/4 | - | 1 |
11-75298599-A-G | c.1947T>C | p.D649= | Synonymous | 4/4 | - | 1 |
11-75298605-C-A | c.1941G>T | p.P647= | Synonymous | 4/4 | - | 1 |
11-75298605-C-G | c.1941G>C | p.P647= | Synonymous | 4/4 | - | 1 |
11-75298605-C-T | c.1941G>A | p.P647= | Synonymous | 4/4 | - | 3 |
11-75298606-G-A | c.1940C>T | p.P647L | Missense | 4/4 | - | 7 |
11-75298607-G-T | c.1939C>A | p.P647T | Missense | 4/4 | - | 1 |
11-75298616-G-A | c.1930C>T | p.P644S | Missense | 4/4 | - | 4 |
11-75298619-C-T | c.1927G>A | p.V643I | Missense | 4/4 | - | 1 |
11-75298624-G-A | c.1922C>T | p.P641L | Missense | 4/4 | - | 2 |
11-75298625-G-A | c.1921C>T | p.P641S | Missense | 4/4 | - | 4 |
11-75298634-C-T | c.1912G>A | p.D638N | Missense | 4/4 | - | 1 |
11-75298635-C-T | c.1911G>A | p.K637= | Synonymous | 4/4 | - | 4 |
11-75298643-G-A | c.1903C>T | p.P635S | Missense | 4/4 | - | 1 |
11-75298647-TG-AA | c.1898_1899delinsTT | p.S633F | Missense | 4/4 | - | 2 |
11-75298664-C-G | c.1882G>C | p.E628Q | Missense | 4/4 | - | 1 |
11-75298665-A-ACCTTGACAGGTGCTGGGACTATGGGACCTTCAC | c.1880_1881insGTGAAGGTCCCATAGTCCCAGCACCTGTCAAGG | p.D627delinsE* | Frameshift | 4/4 | - | 1 |
11-75298666-T-C | c.1880A>G | p.D627G | Missense | 4/4 | - | 1 |
11-75298676-G-A | c.1870C>T | p.P624S | Missense | 4/4 | - | 1 |
11-75298686-T-C | c.1860A>G | p.I620M | Missense | 4/4 | - | 1 |
11-75298691-G-A | c.1855C>T | p.P619S | Missense | 4/4 | - | 1 |
11-75298694-C-A | c.1852G>T | p.G618C | Missense | 4/4 | - | 1 |
11-75298697-C-G | c.1849G>C | p.E617Q | Missense | 4/4 | - | 1 |
11-75298699-C-A | c.1847G>T | p.G616V | Missense | 4/4 | - | 1 |
11-75298699-C-T | c.1847G>A | p.G616D | Missense | 4/4 | - | 2 |
11-75298700-C-A | c.1846G>T | p.G616C | Missense | 4/4 | - | 1 |
11-75298700-C-G | c.1846G>C | p.G616R | Missense | 4/4 | - | 2 |
11-75298700-C-T | c.1846G>A | p.G616S | Missense | 4/4 | - | 2 |
11-75298704-G-A | c.1842C>T | p.V614= | Synonymous | 4/4 | - | 1 |
11-75298704-G-C | c.1842C>G | p.V614= | Synonymous | 4/4 | - | 1 |
11-75298704-G-T | c.1842C>A | p.V614= | Synonymous | 4/4 | - | 1 |
11-75298715-G-A | c.1831C>T | p.P611S | Missense | 4/4 | - | 1 |
11-75298717-A-G | c.1829T>C | p.V610A | Missense | 4/4 | - | 1 |
11-75298719-T-C | c.1827A>G | p.I609M | Missense | 4/4 | - | 1 |
11-75298723-G-T | c.1823C>A | p.P608H | Missense | 4/4 | - | 1 |
11-75298725-AC-CT | c.1820_1821delinsAG | p.G607E | Missense | 4/4 | - | 2 |
11-75298726-C-T | c.1820G>A | p.G607D | Missense | 4/4 | - | 2 |
11-75298727-C-T | c.1819G>A | p.G607S | Missense | 4/4 | - | 1 |
11-75298730-G-C | c.1816C>G | p.Q606E | Missense | 4/4 | - | 1 |
11-75298733-C-T | c.1813G>A | p.D605N | Missense | 4/4 | - | 3 |
11-75298739-C-G | c.1807G>C | p.V603L | Missense | 4/4 | - | 1 |
11-75298744-G-T | c.1802C>A | p.A601E | Missense | 4/4 | - | 1 |
11-75298754-T-C | c.1792A>G | p.M598V | Missense | 4/4 | - | 1 |
11-75298759-C-T | c.1787G>A | p.G596D | Missense | 4/4 | - | 1 |
11-75298763-G-A | c.1783C>T | p.Q595* | Nonsense | 4/4 | - | 1 |
11-75298765-T-A | c.1781A>T | p.D594V | Missense | 4/4 | - | 1 |
11-75298766-C-T | c.1780G>A | p.D594N | Missense | 4/4 | - | 2 |
11-75298773-A-C | c.1773T>G | p.S591= | Synonymous | 4/4 | - | 1 |
11-75298773-A-G | c.1773T>C | p.S591= | Synonymous | 4/4 | - | 1 |
11-75298773-A-T | c.1773T>A | p.S591= | Synonymous | 4/4 | - | 1 |
11-75298774-G-A | c.1772C>T | p.S591F | Missense | 4/4 | - | 1 |
11-75298774-GA-AG | c.1771_1772delinsCT | p.S591L | Missense | 4/4 | - | 1 |
11-75298775-A-G | c.1771T>C | p.S591P | Missense | 4/4 | - | 1 |
11-75298782-G-A | c.1764C>T | p.V588= | Synonymous | 4/4 | - | 2 |
11-75298782-G-C | c.1764C>G | p.V588= | Synonymous | 4/4 | - | 3 |
11-75298782-G-T | c.1764C>A | p.V588= | Synonymous | 4/4 | - | 2 |
11-75298785-C-T | c.1761G>A | p.M587I | Missense | 4/4 | - | 1 |
11-75298791-A-G | c.1755T>C | p.G585= | Synonymous | 4/4 | - | 1 |
11-75298796-C-CTTG | c.1749_1750insCAA | p.D583_E584insQ | InFrameInsertion | 4/4 | - | 1 |
11-75298796-C-G | c.1750G>C | p.E584Q | Missense | 4/4 | - | 2 |
11-75298796-C-T | c.1750G>A | p.E584K | Missense | 4/4 | - | 1 |
11-75298797-A-G | c.1749T>C | p.D583= | Synonymous | 4/4 | - | 19 |
11-75298800-C-T | c.1746G>A | p.K582= | Synonymous | 4/4 | - | 2 |
11-75298808-G-A | c.1738C>T | p.P580S | Missense | 4/4 | - | 4 |
11-75298814-G-A | c.1732C>T | p.P578S | Missense | 4/4 | - | 1 |
11-75298817-C-T | c.1729G>A | p.V577I | Missense | 4/4 | - | 1 |
11-75298822-G-A | c.1724C>T | p.P575L | Missense | 4/4 | - | 1 |
11-75298823-G-A | c.1723C>T | p.P575S | Missense | 4/4 | - | 4 |
11-75298824-A-C | c.1722T>G | p.A574= | Synonymous | 4/4 | - | 1 |
11-75298824-A-G | c.1722T>C | p.A574= | Synonymous | 4/4 | - | 1 |
11-75298824-A-T | c.1722T>A | p.A574= | Synonymous | 4/4 | - | 2 |
11-75298828-T-C | c.1718A>G | p.Q573R | Missense | 4/4 | - | 1 |
11-75298834-T-G | c.1712A>C | p.K571T | Missense | 4/4 | - | 4 |
11-75298836-C-A | c.1710G>T | p.V570= | Synonymous | 4/4 | - | 2 |
11-75298836-C-G | c.1710G>C | p.V570= | Synonymous | 4/4 | - | 2 |
11-75298836-C-T | c.1710G>A | p.V570= | Synonymous | 4/4 | - | 2 |
11-75298843-T-A | c.1703A>T | p.E568V | Missense | 4/4 | - | 1 |
11-75298847-G-A | c.1699C>T | p.P567S | Missense | 4/4 | - | 1 |
11-75298848-A-G | c.1698T>C | p.I566= | Synonymous | 4/4 | - | 1 |
11-75298848-A-T | c.1698T>A | p.I566= | Synonymous | 4/4 | - | 1 |
11-75298849-A-C | c.1697T>G | p.I566S | Missense | 4/4 | - | 1 |
11-75298852-C-T | c.1694G>A | p.R565K | Missense | 4/4 | - | 1 |
11-75298853-T-A | c.1693A>T | p.R565W | Missense | 4/4 | - | 2 |
11-75298853-TAGG-T | c.1690_1692del | p.P564del | InFrameDeletion | 4/4 | - | 1 |
11-75298865-C-T | c.1681G>A | p.D561N | Missense | 4/4 | - | 5 |
11-75298869-T-A | c.1677A>T | p.L559= | Synonymous | 4/4 | - | 1 |
11-75298869-T-C | c.1677A>G | p.L559= | Synonymous | 4/4 | - | 1 |
11-75298869-T-G | c.1677A>C | p.L559= | Synonymous | 4/4 | - | 1 |
11-75298871-G-A | c.1675C>T | p.L559= | Synonymous | 4/4 | - | 1 |
11-75298871-G-T | c.1675C>A | p.L559I | Missense | 4/4 | - | 1 |
11-75298872-A-C | c.1674T>G | p.S558= | Synonymous | 4/4 | - | 2 |
11-75298872-A-G | c.1674T>C | p.S558= | Synonymous | 4/4 | - | 2 |
11-75298872-A-T | c.1674T>A | p.S558= | Synonymous | 4/4 | - | 2 |
11-75298879-G-A | c.1667C>T | p.P556L | Missense | 4/4 | - | 1 |
11-75298881-T-C | c.1665A>G | p.V555= | Synonymous | 4/4 | - | 1 |
11-75298884-CAC-GAT | c.1660_1662delinsATC | p.V554I | Missense | 4/4 | - | 1 |
11-75298887-A-T | c.1659T>A | p.S553= | Synonymous | 4/4 | - | 1 |
11-75298888-G-A | c.1658C>T | p.S553F | Missense | 4/4 | - | 2 |
11-75298896-A-G | c.1650T>C | p.D550= | Synonymous | 4/4 | - | 2 |
11-75298898-C-G | c.1648G>C | p.D550H | Missense | 4/4 | - | 1 |
11-75298904-C-G | c.1642G>C | p.V548L | Missense | 4/4 | - | 3 |
11-75298911-T-A | c.1635A>T | p.P545= | Synonymous | 4/4 | - | 2 |
11-75298911-T-C | c.1635A>G | p.P545= | Synonymous | 4/4 | - | 2 |
11-75298911-T-G | c.1635A>C | p.P545= | Synonymous | 4/4 | - | 2 |
11-75298917-C-A | c.1629G>T | p.M543I | Missense | 4/4 | - | 8 |
11-75298917-C-G | c.1629G>C | p.M543I | Missense | 4/4 | - | 2 |
11-75298917-C-T | c.1629G>A | p.M543I | Missense | 4/4 | - | 2 |
11-75298919-T-C | c.1627A>G | p.M543V | Missense | 4/4 | - | 1 |
11-75298924-C-A | c.1622G>T | p.S541I | Missense | 4/4 | - | 1 |
11-75298924-C-T | c.1622G>A | p.S541N | Missense | 4/4 | - | 1 |
11-75298928-G-C | c.1618C>G | p.Q540E | Missense | 4/4 | - | 1 |
11-75298931-T-C | c.1615A>G | p.N539D | Missense | 4/4 | - | 1 |
11-75298932-C-A | c.1614G>T | p.K538N | Missense | 4/4 | - | 1 |
11-75298932-C-G | c.1614G>C | p.K538N | Missense | 4/4 | - | 1 |
11-75298936-G-A | c.1610C>T | p.P537L | Missense | 4/4 | - | 2 |
11-75298937-G-T | c.1609C>A | p.P537T | Missense | 4/4 | - | 2 |
11-75298938-A-T | c.1608T>A | p.P536= | Synonymous | 4/4 | - | 1 |
11-75298946-G-A | c.1600C>T | p.P534S | Missense | 4/4 | - | 1 |
11-75298947-G-T | c.1599C>A | p.V533= | Synonymous | 4/4 | - | 1 |
11-75298950-C-A | c.1596G>T | p.S532= | Synonymous | 4/4 | - | 1 |
11-75298955-G-A | c.1591C>T | p.P531S | Missense | 4/4 | - | 1 |
11-75298960-T-G | c.1586A>C | p.Q529P | Missense | 4/4 | - | 1 |
11-75298965-C-T | c.1581G>A | p.K527= | Synonymous | 4/4 | - | 2 |
11-75298987-G-A | c.1559C>T | p.P520L | Missense | 4/4 | - | 1 |
11-75299000-T-A | c.1546A>T | p.K516* | Nonsense | 4/4 | - | 1 |
11-75299000-T-C | c.1546A>G | p.K516E | Missense | 4/4 | - | 1 |
11-75299012-G-A | c.1534C>T | p.P512S | Missense | 4/4 | - | 1 |
11-75299010-AG-A | c.1535del | p.P512Lfs*4 | Frameshift | 4/4 | - | 1 |
11-75299016-C-A | c.1530G>T | p.T510= | Synonymous | 4/4 | - | 1 |
11-75299016-C-G | c.1530G>C | p.T510= | Synonymous | 4/4 | - | 1 |
11-75299016-C-T | c.1530G>A | p.T510= | Synonymous | 4/4 | - | 3 |
11-75299026-T-G | c.1520A>C | p.Q507P | Missense | 4/4 | - | 1 |
11-75299039-G-A | c.1507C>T | p.P503S | Missense | 4/4 | - | 1 |
11-75299044-G-A | c.1502C>T | p.P501L | Missense | 4/4 | - | 1 |
11-75299044-G-T | c.1502C>A | p.P501Q | Missense | 4/4 | - | 1 |
11-75299052-G-A | c.1494C>T | p.P498= | Synonymous | 4/4 | - | 2 |
11-75299052-G-T | c.1494C>A | p.P498= | Synonymous | 4/4 | - | 1 |
11-75299055-AC-CT | c.1490_1491delinsAG | p.G497E | Missense | 4/4 | - | 1 |
11-75299056-C-T | c.1490G>A | p.G497D | Missense | 4/4 | - | 1 |
11-75299057-C-G | c.1489G>C | p.G497R | Missense | 4/4 | - | 1 |
11-75299058-TAG-AAA | c.1486_1488delinsTTT | p.L496F | Missense | 4/4 | - | 1 |
11-75299061-A-C | c.1485T>G | p.D495E | Missense | 4/4 | - | 1 |
11-75299061-A-T | c.1485T>A | p.D495E | Missense | 4/4 | - | 1 |
11-75299066-T-C | c.1480A>G | p.K494E | Missense | 4/4 | - | 1 |
11-75299068-G-T | c.1478C>A | p.P493Q | Missense | 4/4 | - | 1 |
11-75299069-G-A | c.1477C>T | p.P493S | Missense | 4/4 | - | 1 |
11-75299073-C-A | c.1473G>T | p.G491= | Synonymous | 4/4 | - | 1 |
11-75299073-C-G | c.1473G>C | p.G491= | Synonymous | 4/4 | - | 1 |
11-75299073-C-T | c.1473G>A | p.G491= | Synonymous | 4/4 | - | 1 |
11-75299078-G-A | c.1468C>T | p.P490S | Missense | 4/4 | - | 1 |
11-75299086-G-T | c.1460C>A | p.S487Y | Missense | 4/4 | - | 1 |
11-75299087-A-G | c.1459T>C | p.S487P | Missense | 4/4 | - | 1 |
11-75299094-C-A | c.1452G>T | p.K484N | Missense | 4/4 | - | 1 |
11-75299094-C-G | c.1452G>C | p.K484N | Missense | 4/4 | - | 1 |
11-75299100-C-T | c.1446G>A | p.L482= | Synonymous | 4/4 | - | 3 |
11-75299103-A-G | c.1443T>C | p.P481= | Synonymous | 4/4 | - | 1 |
11-75299106-C-T | c.1440G>A | p.E480= | Synonymous | 4/4 | - | 2 |
11-75299108-C-A | c.1438G>T | p.E480* | Nonsense | 4/4 | - | 1 |
11-75299108-C-T | c.1438G>A | p.E480K | Missense | 4/4 | - | 5 |
11-75299119-G-T | c.1427C>A | p.P476H | Missense | 4/4 | - | 2 |
11-75299122-C-A | c.1424G>T | p.G475V | Missense | 4/4 | - | 1 |
11-75299123-C-T | c.1423G>A | p.G475S | Missense | 4/4 | - | 1 |
11-75299128-C-A | c.1418G>T | p.G473V | Missense | 4/4 | - | 1 |
11-75299132-T-C | c.1414A>G | p.K472E | Missense | 4/4 | - | 1 |
11-75299135-G-C | c.1411C>G | p.L471V | Missense | 4/4 | - | 2 |
11-75299139-G-T | c.1407C>A | p.G469= | Synonymous | 4/4 | - | 1 |
11-75299144-G-A | c.1402C>T | p.P468S | Missense | 4/4 | - | 1 |
11-75299152-G-T | c.1394C>A | p.S465Y | Missense | 4/4 | - | 2 |
11-75299162-C-A | c.1384G>T | p.D462Y | Missense | 4/4 | - | 1 |
11-75299162-C-T | c.1384G>A | p.D462N | Missense | 4/4 | - | 2 |
11-75299168-C-T | c.1378G>A | p.D460N | Missense | 4/4 | - | 1 |
11-75299173-T-C | c.1373A>G | p.E458G | Missense | 4/4 | - | 1 |
11-75299183-C-T | c.1363G>A | p.V455I | Missense | 4/4 | - | 1 |
11-75299192-G-A | c.1354C>T | p.Q452* | Nonsense | 4/4 | - | 4 |
11-75299194-G-GT | c.1351dup | p.T451Nfs*63 | Frameshift | 4/4 | - | 1 |
11-75299206-T-C | c.1340A>G | p.D447G | Missense | 4/4 | - | 2 |
11-75299215-G-C | c.1331C>G | p.P444R | Missense | 4/4 | - | 1 |
11-75299222-C-T | c.1324G>A | p.A442T | Missense | 4/4 | - | 1 |
11-75302420-T-C | c.1317-3191A>G | - | IntronicSNV | - | 3/3 | 1 |
11-75305387-T-C | c.1317-6158A>G | - | IntronicSNV | - | 3/3 | 1 |
11-75305531-C-T | c.1317-6302G>A | - | IntronicSNV | - | 3/3 | 1 |
11-75307820-C-A | c.1317-8591G>T | - | IntronicSNV | - | 3/3 | 1 |
11-75307820-C-T | c.1317-8591G>A | - | IntronicSNV | - | 3/3 | 1 |
11-75307859-T-A | c.1317-8630A>T | - | IntronicSNV | - | 3/3 | 1 |
11-75314104-A-C | c.1316+2749T>G | - | IntronicSNV | - | 3/3 | 1 |
11-75314787-G-T | c.1316+2066C>A | - | IntronicSNV | - | 3/3 | 1 |
11-75314788-C-T | c.1316+2065G>A | - | IntronicSNV | - | 3/3 | 1 |
11-75315171-T-C | c.1316+1682A>G | - | IntronicSNV | - | 3/3 | 1 |
11-75316787-TA-T | c.1316+65del | - | IntronicDeletion | - | 3/3 | 2 |
11-75316787-T-TA | c.1316+65dup | - | IntronicInsertion | - | 3/3 | 1 |
11-75316854-C-T | c.1315G>A | p.E439K | Missense | 3/4 | - | 2 |
11-75316858-C-A | c.1311G>T | p.A437= | Synonymous | 3/4 | - | 1 |
11-75316858-C-G | c.1311G>C | p.A437= | Synonymous | 3/4 | - | 1 |
11-75316858-C-T | c.1311G>A | p.A437= | Synonymous | 3/4 | - | 1 |
11-75316859-G-A | c.1310C>T | p.A437V | Missense | 3/4 | - | 6 |
11-75316860-C-T | c.1309G>A | p.A437T | Missense | 3/4 | - | 1 |
11-75316863-C-T | c.1306G>A | p.E436K | Missense | 3/4 | - | 1 |
11-75316876-G-C | c.1293C>G | p.N431K | Missense | 3/4 | - | 1 |
11-75316876-G-T | c.1293C>A | p.N431K | Missense | 3/4 | - | 1 |
11-75316878-T-A | c.1291A>T | p.N431Y | Missense | 3/4 | - | 2 |
11-75316878-T-G | c.1291A>C | p.N431H | Missense | 3/4 | - | 1 |
11-75316879-C-A | c.1290G>T | p.M430I | Missense | 3/4 | - | 1 |
11-75316879-C-G | c.1290G>C | p.M430I | Missense | 3/4 | - | 1 |
11-75316879-C-T | c.1290G>A | p.M430I | Missense | 3/4 | - | 1 |
11-75316884-C-G | c.1285G>C | p.E429Q | Missense | 3/4 | - | 1 |
11-75316888-G-A | c.1281C>T | p.S427= | Synonymous | 3/4 | - | 1 |
11-75316894-C-T | c.1275G>A | p.E425= | Synonymous | 3/4 | - | 2 |
11-75316900-G-A | c.1269C>T | p.D423= | Synonymous | 3/4 | - | 1 |
11-75316901-T-C | c.1268A>G | p.D423G | Missense | 3/4 | - | 2 |
11-75316902-C-T | c.1267G>A | p.D423N | Missense | 3/4 | - | 7 |
11-75316903-G-A | c.1266C>T | p.D422= | Synonymous | 3/4 | - | 1 |
11-75316913-G-T | c.1256C>A | p.T419N | Missense | 3/4 | - | 3 |
11-75316921-C-T | c.1248G>A | p.P416= | Synonymous | 3/4 | - | 2 |
11-75316928-T-C | c.1241A>G | p.E414G | Missense | 3/4 | - | 1 |
11-75316930-C-T | c.1239G>A | p.A413= | Synonymous | 3/4 | - | 3 |
11-75316931-G-A | c.1238C>T | p.A413V | Missense | 3/4 | - | 1 |
11-75316932-C-T | c.1237G>A | p.A413T | Missense | 3/4 | - | 2 |
11-75316941-T-A | c.1228A>T | p.K410* | Nonsense | 3/4 | - | 1 |
11-75316953-G-A | c.1216C>T | p.Q406* | Nonsense | 3/4 | - | 3 |
11-75316954-G-A | c.1215C>T | p.G405= | Synonymous | 3/4 | - | 2 |
11-75316954-G-C | c.1215C>G | p.G405= | Synonymous | 3/4 | - | 1 |
11-75316954-G-T | c.1215C>A | p.G405= | Synonymous | 3/4 | - | 1 |
11-75316958-G-A | c.1211C>T | p.S404L | Missense | 3/4 | - | 2 |
11-75316960-C-T | c.1209G>A | p.V403= | Synonymous | 3/4 | - | 1 |
11-75316963-C-A | c.1206G>T | p.A402= | Synonymous | 3/4 | - | 1 |
11-75316963-C-G | c.1206G>C | p.A402= | Synonymous | 3/4 | - | 1 |
11-75316963-C-T | c.1206G>A | p.A402= | Synonymous | 3/4 | - | 3 |
11-75316964-G-A | c.1205C>T | p.A402V | Missense | 3/4 | - | 6 |
11-75316974-C-G | c.1195G>C | p.D399H | Missense | 3/4 | - | 1 |
11-75316976-T-A | c.1193A>T | p.K398I | Missense | 3/4 | - | 1 |
11-75316980-C-A | c.1189G>T | p.A397S | Missense | 3/4 | - | 1 |
11-75316980-C-T | c.1189G>A | p.A397T | Missense | 3/4 | - | 3 |
11-75316981-C-A | c.1188G>T | p.K396N | Missense | 3/4 | - | 2 |
11-75316981-C-G | c.1188G>C | p.K396N | Missense | 3/4 | - | 1 |
11-75316981-CT-GA | c.1187_1188delinsTC | p.K396I | Missense | 3/4 | - | 1 |
11-75316987-C-A | c.1182G>T | p.T394= | Synonymous | 3/4 | - | 1 |
11-75316987-C-G | c.1182G>C | p.T394= | Synonymous | 3/4 | - | 1 |
11-75316987-C-T | c.1182G>A | p.T394= | Synonymous | 3/4 | - | 2 |
11-75316988-G-A | c.1181C>T | p.T394M | Missense | 3/4 | - | 3 |
11-75316992-G-C | c.1177C>G | p.P393A | Missense | 3/4 | - | 1 |
11-75316999-G-A | c.1170C>T | p.S390= | Synonymous | 3/4 | - | 1 |
11-75317002-C-T | c.1167G>A | p.A389= | Synonymous | 3/4 | - | 1 |
11-75317003-G-C | c.1166C>G | p.A389G | Missense | 3/4 | - | 5 |
11-75317008-GG-CA | c.1160_1161delinsTG | p.T387M | Missense | 3/4 | - | 1 |
11-75317011-C-A | c.1158G>T | p.K386N | Missense | 3/4 | - | 2 |
11-75317011-C-G | c.1158G>C | p.K386N | Missense | 3/4 | - | 1 |
11-75317014-T-A | c.1155A>T | p.K385N | Missense | 3/4 | - | 2 |
11-75317014-T-G | c.1155A>C | p.K385N | Missense | 3/4 | - | 2 |
11-75317011-C-CT | c.1157dup | p.T387Dfs*6 | Frameshift | 3/4 | - | 1 |
11-75317017-T-A | c.1152A>T | p.P384= | Synonymous | 3/4 | - | 1 |
11-75317017-T-C | c.1152A>G | p.P384= | Synonymous | 3/4 | - | 1 |
11-75317017-T-G | c.1152A>C | p.P384= | Synonymous | 3/4 | - | 1 |
11-75317018-G-A | c.1151C>T | p.P384L | Missense | 3/4 | - | 1 |
11-75317018-G-T | c.1151C>A | p.P384Q | Missense | 3/4 | - | 1 |
11-75317023-G-A | c.1146C>T | p.S382= | Synonymous | 3/4 | - | 1 |
11-75317023-G-C | c.1146C>G | p.S382= | Synonymous | 3/4 | - | 1 |
11-75317023-GGA-CTC | c.1144_1146delinsGAG | p.S382E | Missense | 3/4 | - | 1 |
11-75317023-G-T | c.1146C>A | p.S382= | Synonymous | 3/4 | - | 1 |
11-75317024-G-T | c.1145C>A | p.S382Y | Missense | 3/4 | - | 1 |
11-75317039-G-A | c.1130C>T | p.P377L | Missense | 3/4 | - | 1 |
11-75317045-T-C | c.1124A>G | p.E375G | Missense | 3/4 | - | 1 |
11-75317046-C-T | c.1123G>A | p.E375K | Missense | 3/4 | - | 3 |
11-75317084-C-G | c.1120-35G>C | - | IntronicSNV | - | 2/3 | 1 |
11-75318363-C-T | c.1119+791G>A | - | IntronicSNV | - | 2/3 | 1 |
11-75319155-T-C | c.1118A>G | p.K373R | Missense | 2/4 | - | 1 |
11-75319162-G-A | c.1111C>T | p.P371S | Missense | 2/4 | - | 1 |
11-75319163-T-C | c.1110A>G | p.E370= | Synonymous | 2/4 | - | 1 |
11-75319164-T-C | c.1109A>G | p.E370G | Missense | 2/4 | - | 2 |
11-75319165-C-T | c.1108G>A | p.E370K | Missense | 2/4 | - | 1 |
11-75319167-T-C | c.1106A>G | p.K369R | Missense | 2/4 | - | 2 |
11-75319169-G-A | c.1104C>T | p.F368= | Synonymous | 2/4 | - | 1 |
11-75319172-G-A | c.1101C>T | p.P367= | Synonymous | 2/4 | - | 2 |
11-75319172-G-C | c.1101C>G | p.P367= | Synonymous | 2/4 | - | 1 |
11-75319172-G-T | c.1101C>A | p.P367= | Synonymous | 2/4 | - | 1 |
11-75319173-G-A | c.1100C>T | p.P367L | Missense | 2/4 | - | 2 |
11-75319175-T-C | c.1098A>G | p.E366= | Synonymous | 2/4 | - | 1 |
11-75319177-C-T | c.1096G>A | p.E366K | Missense | 2/4 | - | 2 |
11-75319178-G-C | c.1095C>G | p.S365R | Missense | 2/4 | - | 1 |
11-75319178-G-T | c.1095C>A | p.S365R | Missense | 2/4 | - | 1 |
11-75319180-T-G | c.1093A>C | p.S365R | Missense | 2/4 | - | 1 |
11-75319185-A-G | c.1088T>C | p.L363P | Missense | 2/4 | - | 1 |
11-75319187-G-C | c.1086C>G | p.S362R | Missense | 2/4 | - | 3 |
11-75319187-G-T | c.1086C>A | p.S362R | Missense | 2/4 | - | 2 |
11-75319189-T-G | c.1084A>C | p.S362R | Missense | 2/4 | - | 2 |
11-75319191-C-T | c.1082G>A | p.R361H | Missense | 2/4 | - | 3 |
11-75319192-G-A | c.1081C>T | p.R361C | Missense | 2/4 | - | 1 |
11-75319197-C-T | c.1076G>A | p.R359K | Missense | 2/4 | - | 1 |
11-75319197-CT-GG | c.1075_1076delinsCC | p.R359P | Missense | 2/4 | - | 1 |
11-75319200-C-T | c.1073G>A | p.R358K | Missense | 2/4 | - | 1 |
11-75319202-GCG-TCA | c.1069_1071delinsTGA | p.R357* | Nonsense | 2/4 | - | 1 |
11-75319203-C-T | c.1070G>A | p.R357H | Missense | 2/4 | - | 3 |
11-75319204-G-A | c.1069C>T | p.R357C | Missense | 2/4 | - | 4 |
11-75319211-G-A | c.1062C>T | p.V354= | Synonymous | 2/4 | - | 1 |
11-75319211-G-C | c.1062C>G | p.V354= | Synonymous | 2/4 | - | 1 |
11-75319211-G-T | c.1062C>A | p.V354= | Synonymous | 2/4 | - | 1 |
11-75319224-G-A | c.1049C>T | p.A350V | Missense | 2/4 | - | 1 |
11-75319228-T-C | c.1045A>G | p.T349A | Missense | 2/4 | - | 1 |
11-75319244-C-A | c.1029G>T | p.E343D | Missense | 2/4 | - | 1 |
11-75319244-C-T | c.1029G>A | p.E343= | Synonymous | 2/4 | - | 1 |
11-75319247-T-A | c.1026A>T | p.G342= | Synonymous | 2/4 | - | 1 |
11-75319253-G-A | c.1020C>T | p.F340= | Synonymous | 2/4 | - | 2 |
11-75319254-A-G | c.1019T>C | p.F340S | Missense | 2/4 | - | 1 |
11-75319255-A-G | c.1018T>C | p.F340L | Missense | 2/4 | - | 2 |
11-75319257-T-C | c.1016A>G | p.Q339R | Missense | 2/4 | - | 1 |
11-75319260-G-A | c.1013C>T | p.A338V | Missense | 2/4 | - | 1 |
11-75319261-C-T | c.1012G>A | p.A338T | Missense | 2/4 | - | 1 |
11-75319271-G-A | c.1002C>T | p.T334= | Synonymous | 2/4 | - | 3 |
11-75319272-G-A | c.1001C>T | p.T334I | Missense | 2/4 | - | 3 |
11-75319277-A-G | c.996T>C | p.H332= | Synonymous | 2/4 | - | 2 |
11-75319282-CCA-TC | c.989_991delinsGA | p.M330Rfs*101 | Frameshift | 2/4 | - | 1 |
11-75319283-C-A | c.990G>T | p.M330I | Missense | 2/4 | - | 1 |
11-75319283-C-G | c.990G>C | p.M330I | Missense | 2/4 | - | 1 |
11-75319283-C-T | c.990G>A | p.M330I | Missense | 2/4 | - | 1 |
11-75319294-C-T | c.979G>A | p.D327N | Missense | 2/4 | - | 2 |
11-75319301-C-A | c.972G>T | p.K324N | Missense | 2/4 | - | 1 |
11-75319301-C-G | c.972G>C | p.K324N | Missense | 2/4 | - | 1 |
11-75319303-T-G | c.970A>C | p.K324Q | Missense | 2/4 | - | 1 |
11-75319308-T-C | c.965A>G | p.Q322R | Missense | 2/4 | - | 2 |
11-75319309-G-A | c.964C>T | p.Q322* | Nonsense | 2/4 | - | 3 |
11-75319312-G-A | c.961C>T | p.P321S | Missense | 2/4 | - | 1 |
11-75319317-G-A | c.956C>T | p.A319V | Missense | 2/4 | - | 2 |
11-75319320-T-A | c.953A>T | p.K318M | Missense | 2/4 | - | 1 |
11-75319327-G-A | c.946C>T | p.P316S | Missense | 2/4 | - | 5 |
11-75319348-T-C | c.925A>G | p.T309A | Missense | 2/4 | - | 1 |
11-75319352-T-A | c.921A>T | p.A307= | Synonymous | 2/4 | - | 1 |
11-75319352-T-C | c.921A>G | p.A307= | Synonymous | 2/4 | - | 2 |
11-75319352-T-G | c.921A>C | p.A307= | Synonymous | 2/4 | - | 1 |
11-75319354-C-T | c.919G>A | p.A307T | Missense | 2/4 | - | 4 |
11-75319355-CCT-ACA | c.916_918delinsTGT | p.R306C | Missense | 2/4 | - | 1 |
11-75319356-C-T | c.917G>A | p.R306K | Missense | 2/4 | - | 1 |
11-75319357-T-A | c.916A>T | p.R306W | Missense | 2/4 | - | 1 |
11-75319365-T-C | c.908A>G | p.N303S | Missense | 2/4 | - | 1 |
11-75320105-C-T | c.906-738G>A | - | IntronicSNV | - | 1/3 | 1 |
11-75332360-A-T | c.906-12993T>A | - | IntronicSNV | - | 1/3 | 1 |
11-75344454-T-C | c.906-25087A>G | - | IntronicSNV | - | 1/3 | 1 |
11-75344906-A-G | c.906-25539T>C | - | IntronicSNV | - | 1/3 | 1 |
11-75350458-CA-C | c.905+28051del | - | IntronicDeletion | - | 1/3 | 1 |
11-75358216-AT-A | c.905+20293del | - | IntronicDeletion | - | 1/3 | 1 |
11-75378521-G-A | c.894C>T | p.S298= | Synonymous | 1/4 | - | 1 |
11-75378522-C-A | c.893G>T | p.S298I | Missense | 1/4 | - | 1 |
11-75378522-CT-AG | c.892_893inv | p.S298L | Missense | 1/4 | - | 1 |
11-75378528-G-A | c.887C>T | p.A296V | Missense | 1/4 | - | 2 |
11-75378537-A-C | c.878T>G | p.V293G | Missense | 1/4 | - | 1 |
11-75378561-A-T | c.854T>A | p.L285H | Missense | 1/4 | - | 1 |
11-75378570-G-A | c.845C>T | p.A282V | Missense | 1/4 | - | 1 |
11-75378574-C-T | c.841G>A | p.A281T | Missense | 1/4 | - | 1 |
11-75378576-G-A | c.839C>T | p.A280V | Missense | 1/4 | - | 1 |
11-75378577-C-T | c.838G>A | p.A280T | Missense | 1/4 | - | 1 |
11-75378583-C-T | c.832G>A | p.G278R | Missense | 1/4 | - | 2 |
11-75378589-C-T | c.826G>A | p.G276S | Missense | 1/4 | - | 1 |
11-75378591-G-T | c.824C>A | p.A275D | Missense | 1/4 | - | 1 |
11-75378595-C-T | c.820G>A | p.E274K | Missense | 1/4 | - | 2 |
11-75378596-G-A | c.819C>T | p.P273= | Synonymous | 1/4 | - | 1 |
11-75378600-C-A | c.815G>T | p.G272V | Missense | 1/4 | - | 1 |
11-75378603-G-A | c.812C>T | p.T271I | Missense | 1/4 | - | 1 |
11-75378609-T-C | c.806A>G | p.Q269R | Missense | 1/4 | - | 1 |
11-75378625-C-G | c.790G>C | p.A264P | Missense | 1/4 | - | 1 |
11-75378630-G-A | c.785C>T | p.P262L | Missense | 1/4 | - | 1 |
11-75378634-G-GA | c.780_781insT | p.L261Sfs*44 | Frameshift | 1/4 | - | 1 |
11-75378637-G-A | c.778C>T | p.P260S | Missense | 1/4 | - | 1 |
11-75378637-G-C | c.778C>G | p.P260A | Missense | 1/4 | - | 1 |
11-75378640-GT-G | c.775del | p.T259Rfs*39 | Frameshift | 1/4 | - | 1 |
11-75378645-T-C | c.770A>G | p.E257G | Missense | 1/4 | - | 1 |
11-75378648-T-C | c.767A>G | p.H256R | Missense | 1/4 | - | 1 |
11-75378650-C-A | c.765G>T | p.G255= | Synonymous | 1/4 | - | 1 |
11-75378650-C-G | c.765G>C | p.G255= | Synonymous | 1/4 | - | 1 |
11-75378650-C-T | c.765G>A | p.G255= | Synonymous | 1/4 | - | 2 |
11-75378661-C-A | c.754G>T | p.E252* | Nonsense | 1/4 | - | 2 |
11-75378672-A-G | c.743T>C | p.V248A | Missense | 1/4 | - | 1 |
11-75378674-A-C | c.741T>G | p.I247M | Missense | 1/4 | - | 30 |
11-75378692-C-T | c.723G>A | p.K241= | Synonymous | 1/4 | - | 1 |
11-75378695-C-T | c.720G>A | p.R240= | Synonymous | 1/4 | - | 1 |
11-75378697-T-G | c.718A>C | p.R240= | Synonymous | 1/4 | - | 1 |
11-75378696-C-A | c.719G>T | p.R240M | Missense | 1/4 | - | 1 |
11-75378722-G-A | c.693C>T | p.S231= | Synonymous | 1/4 | - | 1 |
11-75378722-G-C | c.693C>G | p.S231= | Synonymous | 1/4 | - | 1 |
11-75378722-G-T | c.693C>A | p.S231= | Synonymous | 1/4 | - | 1 |
11-75378723-GA-AG | c.691_692delinsCT | p.S231L | Missense | 1/4 | - | 1 |
11-75378749-C-T | c.666G>A | p.A222= | Synonymous | 1/4 | - | 1 |
11-75378755-G-A | c.660C>T | p.G220= | Synonymous | 1/4 | - | 1 |
11-75378755-G-C | c.660C>G | p.G220= | Synonymous | 1/4 | - | 1 |
11-75378755-G-T | c.660C>A | p.G220= | Synonymous | 1/4 | - | 1 |
11-75378755-GC-G | c.659del | p.G220Afs*78 | Frameshift | 1/4 | - | 1 |
11-75378765-G-C | c.650C>G | p.A217G | Missense | 1/4 | - | 1 |
11-75378770-C-A | c.645G>T | p.Q215H | Missense | 1/4 | - | 1 |
11-75378777-CG-TA | c.637_638delinsTA | p.R213* | Nonsense | 1/4 | - | 1 |
11-75378781-C-A | c.634G>T | p.A212S | Missense | 1/4 | - | 1 |
11-75378784-C-T | c.631G>A | p.E211K | Missense | 1/4 | - | 1 |
11-75378789-G-A | c.626C>T | p.A209V | Missense | 1/4 | - | 1 |
11-75378792-G-C | c.623C>G | p.A208G | Missense | 1/4 | - | 1 |
11-75378802-G-A | c.613C>T | p.P205S | Missense | 1/4 | - | 1 |
11-75378806-GC-TT | c.608_609delinsAA | p.R203Q | Missense | 1/4 | - | 1 |
11-75378811-C-A | c.604G>T | p.E202* | Nonsense | 1/4 | - | 1 |
11-75378819-T-G | c.596A>C | p.Q199P | Missense | 1/4 | - | 1 |
11-75378825-CG-TT | c.589_590delinsAA | p.R197K | Missense | 1/4 | - | 1 |
11-75378847-T-C | c.568A>G | p.I190V | Missense | 1/4 | - | 1 |
11-75378849-G-A | c.566C>T | p.P189L | Missense | 1/4 | - | 1 |
11-75378850-G-C | c.565C>G | p.P189A | Missense | 1/4 | - | 1 |
11-75378854-C-T | c.561G>A | p.S187= | Synonymous | 1/4 | - | 1 |
11-75378869-C-A | c.546G>T | p.A182= | Synonymous | 1/4 | - | 2 |
11-75378869-C-G | c.546G>C | p.A182= | Synonymous | 1/4 | - | 1 |
11-75378869-C-T | c.546G>A | p.A182= | Synonymous | 1/4 | - | 1 |
11-75378871-C-T | c.544G>A | p.A182T | Missense | 1/4 | - | 1 |
11-75378883-C-T | c.532G>A | p.V178M | Missense | 1/4 | - | 3 |
11-75378884-G-A | c.531C>T | p.P177= | Synonymous | 1/4 | - | 1 |
11-75378897-C-T | c.518G>A | p.W173* | Nonsense | 1/4 | - | 1 |
11-75378901-G-A | c.514C>T | p.P172S | Missense | 1/4 | - | 1 |
11-75378905-G-C | c.510C>G | p.D170E | Missense | 1/4 | - | 1 |
11-75378905-G-T | c.510C>A | p.D170E | Missense | 1/4 | - | 1 |
11-75378907-C-T | c.508G>A | p.D170N | Missense | 1/4 | - | 1 |
11-75378909-C-T | c.506G>A | p.G169E | Missense | 1/4 | - | 1 |
11-75378906-TC-T | c.508del | p.D170Tfs*128 | Frameshift | 1/4 | - | 2 |
11-75378911-G-A | c.504C>T | p.R168= | Synonymous | 1/4 | - | 1 |
11-75378911-G-C | c.504C>G | p.R168= | Synonymous | 1/4 | - | 1 |
11-75378911-G-T | c.504C>A | p.R168= | Synonymous | 1/4 | - | 1 |
11-75378912-C-A | c.503G>T | p.R168L | Missense | 1/4 | - | 1 |
11-75378912-C-T | c.503G>A | p.R168H | Missense | 1/4 | - | 2 |
11-75378913-G-T | c.502C>A | p.R168S | Missense | 1/4 | - | 1 |
11-75378912-CGGCGCGGCAGCGGCCA-C | c.487_502del | p.W163Afs*130 | Frameshift | 1/4 | - | 1 |
11-75378924-G-T | c.491C>A | p.P164Q | Missense | 1/4 | - | 1 |
11-75378925-G-T | c.490C>A | p.P164T | Missense | 1/4 | - | 1 |
11-75378934-G-A | c.481C>T | p.R161C | Missense | 1/4 | - | 2 |
11-75378947-G-T | c.468C>A | p.Y156* | Nonsense | 1/4 | - | 1 |
11-75378959-G-A | c.456C>T | p.R152= | Synonymous | 1/4 | - | 1 |
11-75378962-C-T | c.453G>A | p.E151= | Synonymous | 1/4 | - | 2 |
11-75378991-C-T | c.424G>A | p.E142K | Missense | 1/4 | - | 1 |
11-75378993-CT-AG | c.421_422inv | p.S141L | Missense | 1/4 | - | 1 |
11-75378995-GCG-CCA | c.418_420delinsTGG | p.R140W | Missense | 1/4 | - | 1 |
11-75379001-CCG-GAT | c.412_414delinsATC | p.R138I | Missense | 1/4 | - | 1 |
11-75379010-G-T | c.405C>A | p.P135= | Synonymous | 1/4 | - | 1 |
11-75379019-CCG-ACA | c.394_396delinsTGT | p.R132C | Missense | 1/4 | - | 1 |
11-75379021-G-A | c.394C>T | p.R132W | Missense | 1/4 | - | 1 |
11-75379025-C-A | c.390G>T | p.V130= | Synonymous | 1/4 | - | 1 |
11-75379039-G-A | c.376C>T | p.R126* | Nonsense | 1/4 | - | 1 |
11-75379044-T-G | c.371A>C | p.D124A | Missense | 1/4 | - | 1 |
11-75379048-G-A | c.367C>T | p.Q123* | Nonsense | 1/4 | - | 1 |
11-75379050-C-A | c.365G>T | p.R122L | Missense | 1/4 | - | 1 |
11-75379062-T-C | c.353A>G | p.D118G | Missense | 1/4 | - | 1 |
11-75379065-G-C | c.350C>G | p.A117G | Missense | 1/4 | - | 1 |
11-75379066-C-T | c.349G>A | p.A117T | Missense | 1/4 | - | 1 |
11-75379072-C-G | c.343G>C | p.G115R | Missense | 1/4 | - | 1 |
11-75379078-T-C | c.337A>G | p.T113A | Missense | 1/4 | - | 1 |
11-75379083-C-G | c.332G>C | p.G111A | Missense | 1/4 | - | 1 |
11-75379089-C-G | c.326G>C | p.G109A | Missense | 1/4 | - | 1 |
11-75379092-AG-GC | c.322_323delinsGC | p.L108A | Missense | 1/4 | - | 1 |
11-75379094-G-C | c.321C>G | p.G107= | Synonymous | 1/4 | - | 1 |
11-75379097-C-T | c.318G>A | p.P106= | Synonymous | 1/4 | - | 1 |
11-75379098-G-A | c.317C>T | p.P106L | Missense | 1/4 | - | 2 |
11-75379100-GC-G | c.314del | p.G105Afs*16 | Frameshift | 1/4 | - | 1 |
11-75379103-C-A | c.312G>T | p.P104= | Synonymous | 1/4 | - | 1 |
11-75379103-C-G | c.312G>C | p.P104= | Synonymous | 1/4 | - | 1 |
11-75379103-C-T | c.312G>A | p.P104= | Synonymous | 1/4 | - | 1 |
11-75379104-G-A | c.311C>T | p.P104L | Missense | 1/4 | - | 1 |
11-75379112-CC-AT | c.302_303delinsAT | p.R101H | Missense | 1/4 | - | 1 |
11-75379112-C-G | c.303G>C | p.R101= | Synonymous | 1/4 | - | 1 |
11-75379124-CG-GT | c.290_291delinsAC | p.A97D | Missense | 1/4 | - | 1 |
11-75379125-G-A | c.290C>T | p.A97V | Missense | 1/4 | - | 2 |
11-75379127-CG-GT | c.287_288delinsAC | p.A96D | Missense | 1/4 | - | 1 |
11-75379134-T-G | c.281A>C | p.E94A | Missense | 1/4 | - | 1 |
11-75379140-T-G | c.275A>C | p.E92A | Missense | 1/4 | - | 1 |
11-75379147-T-C | c.268A>G | p.T90A | Missense | 1/4 | - | 1 |
11-75379147-T-G | c.268A>C | p.T90P | Missense | 1/4 | - | 1 |
11-75379160-T-C | c.255A>G | p.P85= | Synonymous | 1/4 | - | 1 |
11-75379177-C-G | c.238G>C | p.A80P | Missense | 1/4 | - | 1 |
11-75379204-G-C | c.211C>G | p.P71A | Missense | 1/4 | - | 1 |
11-75379208-C-A | c.207G>T | p.T69= | Synonymous | 1/4 | - | 1 |
11-75379208-C-G | c.207G>C | p.T69= | Synonymous | 1/4 | - | 1 |
11-75379208-C-T | c.207G>A | p.T69= | Synonymous | 1/4 | - | 1 |
11-75379219-C-G | c.196G>C | p.A66P | Missense | 1/4 | - | 2 |
11-75379221-AC-TT | c.193_194delinsAA | p.V65N | Missense | 1/4 | - | 1 |
11-75379224-G-C | c.191C>G | p.A64G | Missense | 1/4 | - | 1 |
11-75379230-G-A | c.185C>T | p.A62V | Missense | 1/4 | - | 1 |
11-75379228-GCGC-G | c.184_186del | p.A62del | InFrameDeletion | 1/4 | - | 1 |
11-75379237-G-A | c.178C>T | p.P60S | Missense | 1/4 | - | 1 |
11-75379234-AG-A | c.180del | p.S61Rfs*7 | Frameshift | 1/4 | - | 1 |
11-75379244-G-A | c.171C>T | p.L57= | Synonymous | 1/4 | - | 1 |
11-75379244-G-C | c.171C>G | p.L57= | Synonymous | 1/4 | - | 1 |
11-75379244-G-T | c.171C>A | p.L57= | Synonymous | 1/4 | - | 1 |
11-75379246-G-A | c.169C>T | p.L57F | Missense | 1/4 | - | 1 |
11-75379247-C-A | c.168G>T | p.A56= | Synonymous | 1/4 | - | 2 |
11-75379247-C-G | c.168G>C | p.A56= | Synonymous | 1/4 | - | 2 |
11-75379247-C-T | c.168G>A | p.A56= | Synonymous | 1/4 | - | 2 |
11-75379249-C-A | c.166G>T | p.A56S | Missense | 1/4 | - | 1 |
11-75379250-C-A | c.165G>T | p.P55= | Synonymous | 1/4 | - | 1 |
11-75379250-C-G | c.165G>C | p.P55= | Synonymous | 1/4 | - | 1 |
11-75379250-C-T | c.165G>A | p.P55= | Synonymous | 1/4 | - | 1 |
11-75379251-G-A | c.164C>T | p.P55L | Missense | 1/4 | - | 1 |
11-75379257-G-C | c.158C>G | p.A53G | Missense | 1/4 | - | 1 |
11-75379258-C-T | c.157G>A | p.A53T | Missense | 1/4 | - | 1 |
11-75379266-T-A | c.149A>T | p.Q50L | Missense | 1/4 | - | 1 |
11-75379269-G-A | c.146C>T | p.P49L | Missense | 1/4 | - | 1 |
11-75379272-G-T | c.143C>A | p.P48Q | Missense | 1/4 | - | 1 |
11-75379273-G-C | c.142C>G | p.P48A | Missense | 1/4 | - | 1 |
11-75379278-G-A | c.137C>T | p.P46L | Missense | 1/4 | - | 1 |
11-75379287-G-T | c.128C>A | p.P43Q | Missense | 1/4 | - | 1 |
11-75379290-GC-TA | c.124_125delinsTA | p.A42Y | Missense | 1/4 | - | 1 |
11-75379295-C-A | c.120G>T | p.P40= | Synonymous | 1/4 | - | 1 |
11-75379295-C-G | c.120G>C | p.P40= | Synonymous | 1/4 | - | 1 |
11-75379295-C-T | c.120G>A | p.P40= | Synonymous | 1/4 | - | 1 |
11-75379308-GC-CA | c.106_107delinsTG | p.A36C | Missense | 1/4 | - | 1 |
11-75379309-C-G | c.106G>C | p.A36P | Missense | 1/4 | - | 1 |
11-75379314-G-A | c.101C>T | p.S34L | Missense | 1/4 | - | 2 |
11-75379319-C-G | c.96G>C | p.K32N | Missense | 1/4 | - | 1 |
11-75379325-G-A | c.90C>T | p.F30= | Synonymous | 1/4 | - | 1 |
11-75379326-A-G | c.89T>C | p.F30S | Missense | 1/4 | - | 4 |
11-75379325-G-GA | c.89dup | p.T31Hfs*181 | Frameshift | 1/4 | - | 1 |
11-75379330-C-A | c.85G>T | p.V29F | Missense | 1/4 | - | 1 |
11-75379335-G-A | c.80C>T | p.P27L | Missense | 1/4 | - | 1 |
11-75379346-G-A | c.69C>T | p.D23= | Synonymous | 1/4 | - | 1 |
11-75379352-T-A | c.63A>T | p.K21N | Missense | 1/4 | - | 2 |
11-75379352-T-G | c.63A>C | p.K21N | Missense | 1/4 | - | 1 |
11-75379374-C-T | c.41G>A | p.R14H | Missense | 1/4 | - | 1 |
11-75379376-GGC-CCA | c.37_39delinsTGG | p.A13W | Missense | 1/4 | - | 1 |
11-75379378-C-T | c.37G>A | p.A13T | Missense | 1/4 | - | 2 |
11-75379379-G-A | c.36C>T | p.I12= | Synonymous | 1/4 | - | 1 |
11-75379379-G-T | c.36C>A | p.I12= | Synonymous | 1/4 | - | 1 |
11-75379382-G-A | c.33C>T | p.C11= | Synonymous | 1/4 | - | 1 |
11-75379385-G-T | c.30C>A | p.C10* | Nonsense | 1/4 | - | 2 |
11-75379396-T-A | c.19A>T | p.T7S | Missense | 1/4 | - | 1 |
11-75379398-A-T | c.17T>A | p.I6N | Missense | 1/4 | - | 1 |
11-75379400-G-A | c.15C>T | p.C5= | Synonymous | 1/4 | - | 1 |
11-75379401-C-A | c.14G>T | p.C5F | Missense | 1/4 | - | 1 |
11-75379410-G-A | c.5C>T | p.A2V | Missense | 1/4 | - | 1 |
11-75379462-G-A | c.-48C>T | - | 5-UTRSNV | 1/4 | - | 1 |
11-75379462-G-C | c.-48C>G | - | 5-UTRSNV | 1/4 | - | 1 |