Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
20-9518318-A-C | c.*1791T>G | - | 3-UTRSNV | 10/10 | - | 1 |
20-9518392-G-A | c.*1717C>T | - | 3-UTRSNV | 10/10 | - | 5 |
20-9518392-G-T | c.*1717C>A | - | 3-UTRSNV | 10/10 | - | 5 |
20-9519674-G-A | c.*435C>T | - | 3-UTRSNV | 10/10 | - | 1 |
20-9519674-G-T | c.*435C>A | - | 3-UTRSNV | 10/10 | - | 1 |
20-9519736-T-TTTC | c.*372_*373insGAA | - | 3-UTRInsertion | 10/10 | - | 1 |
20-9520066-C-T | c.*43G>A | - | 3-UTRSNV | 10/10 | - | 1 |
20-9520098-G-A | c.*11C>T | - | 3-UTRSNV | 10/10 | - | 1 |
20-9520119-C-A | c.2150G>T | p.R717M | Missense | 10/10 | - | 3 |
20-9520119-C-T | c.2150G>A | p.R717K | Missense | 10/10 | - | 2 |
20-9520120-T-C | c.2149A>G | p.R717G | Missense | 10/10 | - | 1 |
20-9520121-G-C | c.2148C>G | p.Y716* | Nonsense | 10/10 | - | 1 |
20-9520121-G-T | c.2148C>A | p.Y716* | Nonsense | 10/10 | - | 1 |
20-9520124-T-C | c.2145A>G | p.Q715= | Synonymous | 10/10 | - | 1 |
20-9520125-T-C | c.2144A>G | p.Q715R | Missense | 10/10 | - | 1 |
20-9520127-T-C | c.2142A>G | p.R714= | Synonymous | 10/10 | - | 1 |
20-9520128-C-T | c.2141G>A | p.R714K | Missense | 10/10 | - | 5 |
20-9520129-T-A | c.2140A>T | p.R714* | Nonsense | 10/10 | - | 1 |
20-9520133-G-A | c.2136C>T | p.L712= | Synonymous | 10/10 | - | 4 |
20-9520136-G-A | c.2133C>T | p.P711= | Synonymous | 10/10 | - | 3 |
20-9520136-G-C | c.2133C>G | p.P711= | Synonymous | 10/10 | - | 2 |
20-9520136-G-T | c.2133C>A | p.P711= | Synonymous | 10/10 | - | 2 |
20-9520137-G-A | c.2132C>T | p.P711L | Missense | 10/10 | - | 2 |
20-9520139-G-T | c.2130C>A | p.V710= | Synonymous | 10/10 | - | 1 |
20-9520140-A-T | c.2129T>A | p.V710D | Missense | 10/10 | - | 3 |
20-9520141-C-A | c.2128G>T | p.V710F | Missense | 10/10 | - | 3 |
20-9520141-C-T | c.2128G>A | p.V710I | Missense | 10/10 | - | 4 |
20-9520142-G-A | c.2127C>T | p.I709= | Synonymous | 10/10 | - | 6 |
20-9520142-G-T | c.2127C>A | p.I709= | Synonymous | 10/10 | - | 1 |
20-9520144-T-C | c.2125A>G | p.I709V | Missense | 10/10 | - | 1 |
20-9520146-CA-GT | c.2122_2123delinsAC | p.C708T | Missense | 10/10 | - | 1 |
20-9520146-C-T | c.2123G>A | p.C708Y | Missense | 10/10 | - | 1 |
20-9520147-A-G | c.2122T>C | p.C708R | Missense | 10/10 | - | 1 |
20-9520149-G-A | c.2120C>T | p.S707F | Missense | 10/10 | - | 1 |
20-9520151-C-A | c.2118G>T | p.P706= | Synonymous | 10/10 | - | 1 |
20-9520151-C-G | c.2118G>C | p.P706= | Synonymous | 10/10 | - | 1 |
20-9520151-C-T | c.2118G>A | p.P706= | Synonymous | 10/10 | - | 1 |
20-9520152-G-A | c.2117C>T | p.P706L | Missense | 10/10 | - | 1 |
20-9520153-G-A | c.2116C>T | p.P706S | Missense | 10/10 | - | 1 |
20-9520153-G-C | c.2116C>G | p.P706A | Missense | 10/10 | - | 1 |
20-9520157-AC-CT | c.2111_2112delinsAG | p.G704E | Missense | 10/10 | - | 1 |
20-9520158-C-A | c.2111G>T | p.G704V | Missense | 10/10 | - | 3 |
20-9520158-C-T | c.2111G>A | p.G704D | Missense | 10/10 | - | 1 |
20-9520159-C-G | c.2110G>C | p.G704R | Missense | 10/10 | - | 3 |
20-9520159-C-T | c.2110G>A | p.G704S | Missense | 10/10 | - | 4 |
20-9520162-C-T | c.2107G>A | p.A703T | Missense | 10/10 | - | 1 |
20-9520163-T-A | c.2106A>T | p.L702= | Synonymous | 10/10 | - | 1 |
20-9520163-T-C | c.2106A>G | p.L702= | Synonymous | 10/10 | - | 1 |
20-9520163-T-G | c.2106A>C | p.L702= | Synonymous | 10/10 | - | 1 |
20-9520165-G-A | c.2104C>T | p.L702= | Synonymous | 10/10 | - | 2 |
20-9520175-T-A | c.2094A>T | p.P698= | Synonymous | 10/10 | - | 3 |
20-9520175-T-C | c.2094A>G | p.P698= | Synonymous | 10/10 | - | 4 |
20-9520175-T-G | c.2094A>C | p.P698= | Synonymous | 10/10 | - | 3 |
20-9520177-G-A | c.2092C>T | p.P698S | Missense | 10/10 | - | 3 |
20-9520177-G-T | c.2092C>A | p.P698T | Missense | 10/10 | - | 1 |
20-9520180-G-T | c.2089C>A | p.H697N | Missense | 10/10 | - | 1 |
20-9520182-C-A | c.2087G>T | p.G696V | Missense | 10/10 | - | 1 |
20-9520182-C-T | c.2087G>A | p.G696E | Missense | 10/10 | - | 3 |
20-9520183-C-G | c.2086G>C | p.G696R | Missense | 10/10 | - | 2 |
20-9520183-C-T | c.2086G>A | p.G696R | Missense | 10/10 | - | 9 |
20-9520184-G-A | c.2085C>T | p.L695= | Synonymous | 10/10 | - | 6 |
20-9520184-G-C | c.2085C>G | p.L695= | Synonymous | 10/10 | - | 2 |
20-9520184-G-T | c.2085C>A | p.L695= | Synonymous | 10/10 | - | 3 |
20-9520187-G-A | c.2082C>T | p.L694= | Synonymous | 10/10 | - | 3 |
20-9520192-C-A | c.2077G>T | p.E693* | Nonsense | 10/10 | - | 1 |
20-9520192-C-G | c.2077G>C | p.E693Q | Missense | 10/10 | - | 1 |
20-9520192-C-T | c.2077G>A | p.E693K | Missense | 10/10 | - | 2 |
20-9520193-C-T | c.2076G>A | p.Q692= | Synonymous | 10/10 | - | 3 |
20-9520196-G-A | c.2073C>T | p.A691= | Synonymous | 10/10 | - | 1 |
20-9520196-G-C | c.2073C>G | p.A691= | Synonymous | 10/10 | - | 1 |
20-9520196-G-T | c.2073C>A | p.A691= | Synonymous | 10/10 | - | 2 |
20-9520198-C-T | c.2071G>A | p.A691T | Missense | 10/10 | - | 5 |
20-9520200-G-A | c.2069C>T | p.T690I | Missense | 10/10 | - | 1 |
20-9520201-T-C | c.2068A>G | p.T690A | Missense | 10/10 | - | 3 |
20-9520203-G-A | c.2066C>T | p.A689V | Missense | 10/10 | - | 5 |
20-9520207-T-G | c.2062A>C | p.R688= | Synonymous | 10/10 | - | 1 |
20-9520209-T-C | c.2060A>G | p.Q687R | Missense | 10/10 | - | 2 |
20-9520210-G-A | c.2059C>T | p.Q687* | Nonsense | 10/10 | - | 4 |
20-9520212-GA-AG | c.2056_2057delinsCT | p.S686L | Missense | 10/10 | - | 1 |
20-9520212-G-T | c.2057C>A | p.S686Y | Missense | 10/10 | - | 1 |
20-9520216-G-T | c.2053C>A | p.P685T | Missense | 10/10 | - | 3 |
20-9520217-C-A | c.2052G>T | p.E684D | Missense | 10/10 | - | 1 |
20-9520219-C-G | c.2050G>C | p.E684Q | Missense | 10/10 | - | 3 |
20-9520219-C-T | c.2050G>A | p.E684K | Missense | 10/10 | - | 8 |
20-9520223-C-A | c.2046G>T | p.V682= | Synonymous | 10/10 | - | 1 |
20-9520223-C-G | c.2046G>C | p.V682= | Synonymous | 10/10 | - | 1 |
20-9520223-C-T | c.2046G>A | p.V682= | Synonymous | 10/10 | - | 1 |
20-9520225-C-T | c.2044G>A | p.V682M | Missense | 10/10 | - | 1 |
20-9520232-C-T | c.2037G>A | p.L679= | Synonymous | 10/10 | - | 2 |
20-9520235-G-A | c.2034C>T | p.D678= | Synonymous | 10/10 | - | 1 |
20-9520237-C-T | c.2032G>A | p.D678N | Missense | 10/10 | - | 1 |
20-9520240-G-T | c.2029C>A | p.L677I | Missense | 10/10 | - | 5 |
20-9520241-G-A | c.2028C>T | p.F676= | Synonymous | 10/10 | - | 1 |
20-9520244-TCC-GCT | c.2023_2025delinsAGC | p.G675S | Missense | 10/10 | - | 1 |
20-9520246-C-T | c.2023G>A | p.G675R | Missense | 10/10 | - | 1 |
20-9520247-C-A | c.2022G>T | p.R674= | Synonymous | 10/10 | - | 2 |
20-9520248-C-A | c.2021G>T | p.R674L | Missense | 10/10 | - | 4 |
20-9520249-G-A | c.2020C>T | p.R674W | Missense | 10/10 | - | 1 |
20-9520257-G-A | c.2012C>T | p.S671L | Missense | 10/10 | - | 6 |
20-9520257-G-C | c.2012C>G | p.S671* | Nonsense | 10/10 | - | 1 |
20-9520259-A-C | c.2010T>G | p.S670= | Synonymous | 10/10 | - | 2 |
20-9520259-A-G | c.2010T>C | p.S670= | Synonymous | 10/10 | - | 1 |
20-9520259-A-T | c.2010T>A | p.S670= | Synonymous | 10/10 | - | 1 |
20-9523228-C-T | c.2004+5G>A | - | IntronicSNV | - | 9/9 | 1 |
20-9523233-C-T | c.2004G>A | p.K668= | Synonymous | 9/10 | - | 3 |
20-9523240-A-G | c.1997T>C | p.L666P | Missense | 9/10 | - | 2 |
20-9523241-G-C | c.1996C>G | p.L666V | Missense | 9/10 | - | 1 |
20-9523241-G-T | c.1996C>A | p.L666I | Missense | 9/10 | - | 1 |
20-9523244-C-T | c.1993G>A | p.D665N | Missense | 9/10 | - | 5 |
20-9523245-C-A | c.1992G>T | p.K664N | Missense | 9/10 | - | 1 |
20-9523245-C-G | c.1992G>C | p.K664N | Missense | 9/10 | - | 1 |
20-9523249-A-G | c.1988T>C | p.V663A | Missense | 9/10 | - | 1 |
20-9523250-C-T | c.1987G>A | p.V663M | Missense | 9/10 | - | 1 |
20-9523252-C-G | c.1985G>C | p.R662T | Missense | 9/10 | - | 1 |
20-9523252-C-T | c.1985G>A | p.R662K | Missense | 9/10 | - | 1 |
20-9523255-G-A | c.1982C>T | p.P661L | Missense | 9/10 | - | 2 |
20-9523256-G-A | c.1981C>T | p.P661S | Missense | 9/10 | - | 1 |
20-9523259-G-A | c.1978C>T | p.P660S | Missense | 9/10 | - | 1 |
20-9523260-TA-T | c.1976del | p.L659Yfs*5 | Frameshift | 9/10 | - | 1 |
20-9523265-T-TA | c.1971_1972insT | p.S658* | Nonsense | 9/10 | - | 1 |
20-9523268-C-T | c.1969G>A | p.D657N | Missense | 9/10 | - | 1 |
20-9523269-CCG-GCT | c.1966_1968delinsAGC | p.R656S | Missense | 9/10 | - | 1 |
20-9523271-G-A | c.1966C>T | p.R656W | Missense | 9/10 | - | 2 |
20-9523274-T-C | c.1963A>G | p.I655V | Missense | 9/10 | - | 2 |
20-9523275-C-A | c.1962G>T | p.R654S | Missense | 9/10 | - | 1 |
20-9523275-C-T | c.1962G>A | p.R654= | Synonymous | 9/10 | - | 5 |
20-9523279-C-T | c.1958G>A | p.R653Q | Missense | 9/10 | - | 2 |
20-9523281-C-A | c.1956G>T | p.M652I | Missense | 9/10 | - | 5 |
20-9523281-C-G | c.1956G>C | p.M652I | Missense | 9/10 | - | 3 |
20-9523281-C-T | c.1956G>A | p.M652I | Missense | 9/10 | - | 3 |
20-9523284-C-A | c.1953G>T | p.A651= | Synonymous | 9/10 | - | 2 |
20-9523284-C-G | c.1953G>C | p.A651= | Synonymous | 9/10 | - | 2 |
20-9523284-C-T | c.1953G>A | p.A651= | Synonymous | 9/10 | - | 6 |
20-9523285-G-A | c.1952C>T | p.A651V | Missense | 9/10 | - | 4 |
20-9523286-C-T | c.1951G>A | p.A651T | Missense | 9/10 | - | 2 |
20-9523290-G-A | c.1947C>T | p.L649= | Synonymous | 9/10 | - | 1 |
20-9523294-GG-AA | c.1942_1943delinsTT | p.P648F | Missense | 9/10 | - | 2 |
20-9523294-G-T | c.1943C>A | p.P648H | Missense | 9/10 | - | 1 |
20-9523295-G-A | c.1942C>T | p.P648S | Missense | 9/10 | - | 2 |
20-9523296-A-C | c.1941T>G | p.P647= | Synonymous | 9/10 | - | 1 |
20-9523296-A-G | c.1941T>C | p.P647= | Synonymous | 9/10 | - | 1 |
20-9523296-A-T | c.1941T>A | p.P647= | Synonymous | 9/10 | - | 1 |
20-9523297-G-A | c.1940C>T | p.P647L | Missense | 9/10 | - | 2 |
20-9523299-C-A | c.1938G>T | p.E646D | Missense | 9/10 | - | 1 |
20-9523299-C-T | c.1938G>A | p.E646= | Synonymous | 9/10 | - | 3 |
20-9523305-G-A | c.1932C>T | p.F644= | Synonymous | 9/10 | - | 2 |
20-9523308-G-C | c.1929C>G | p.Y643* | Nonsense | 9/10 | - | 1 |
20-9523308-G-T | c.1929C>A | p.Y643* | Nonsense | 9/10 | - | 1 |
20-9523309-T-A | c.1928A>T | p.Y643F | Missense | 9/10 | - | 1 |
20-9523309-T-TA | c.1927dup | p.Y643Lfs*4 | Frameshift | 9/10 | - | 2 |
20-9523313-G-A | c.1924C>T | p.P642S | Missense | 9/10 | - | 4 |
20-9523310-A-AG | c.1926dup | p.Y643Lfs*4 | Frameshift | 9/10 | - | 2 |
20-9523318-T-G | c.1919A>C | p.E640A | Missense | 9/10 | - | 4 |
20-9523319-C-A | c.1918G>T | p.E640* | Nonsense | 9/10 | - | 1 |
20-9523319-C-T | c.1918G>A | p.E640K | Missense | 9/10 | - | 2 |
20-9523320-G-A | c.1917C>T | p.G639= | Synonymous | 9/10 | - | 5 |
20-9523320-G-C | c.1917C>G | p.G639= | Synonymous | 9/10 | - | 3 |
20-9523320-GC-ACACT | c.1916_1917delinsAGTGT | p.G639delinsEC | MultiAAMissense | 9/10 | - | 1 |
20-9523320-G-T | c.1917C>A | p.G639= | Synonymous | 9/10 | - | 3 |
20-9523322-C-A | c.1915G>T | p.G639C | Missense | 9/10 | - | 1 |
20-9523322-C-G | c.1915G>C | p.G639R | Missense | 9/10 | - | 1 |
20-9523325-C-T | c.1912G>A | p.D638N | Missense | 9/10 | - | 4 |
20-9523329-C-T | c.1908G>A | p.M636I | Missense | 9/10 | - | 4 |
20-9523334-C-T | c.1903G>A | p.E635K | Missense | 9/10 | - | 3 |
20-9523338-C-T | c.1899G>A | p.V633= | Synonymous | 9/10 | - | 3 |
20-9523344-G-A | c.1893C>T | p.I631= | Synonymous | 9/10 | - | 3 |
20-9523346-T-G | c.1891A>C | p.I631L | Missense | 9/10 | - | 3 |
20-9523347-C-T | c.1890G>A | p.G630= | Synonymous | 9/10 | - | 3 |
20-9523348-C-T | c.1889G>A | p.G630E | Missense | 9/10 | - | 1 |
20-9523349-C-A | c.1888G>T | p.G630W | Missense | 9/10 | - | 1 |
20-9523349-C-G | c.1888G>C | p.G630R | Missense | 9/10 | - | 1 |
20-9523349-C-T | c.1888G>A | p.G630R | Missense | 9/10 | - | 1 |
20-9523352-G-A | c.1885C>T | p.L629F | Missense | 9/10 | - | 3 |
20-9523354-G-A | c.1883C>T | p.S628F | Missense | 9/10 | - | 3 |
20-9523354-GA-AG | c.1882_1883delinsCT | p.S628L | Missense | 9/10 | - | 1 |
20-9523357-C-A | c.1880G>T | p.W627L | Missense | 9/10 | - | 1 |
20-9523365-C-T | c.1872G>A | p.V624= | Synonymous | 9/10 | - | 1 |
20-9523379-A-G | c.1870-12T>C | - | IntronicSNV | - | 8/9 | 6 |
20-9524228-C-T | c.1869+788G>A | - | IntronicSNV | - | 8/9 | 1 |
20-9525015-C-T | c.1869+1G>A | - | IntronicSNV | - | 8/9 | 4 |
20-9525016-C-A | c.1869G>T | p.E623D | Missense | 8/10 | - | 4 |
20-9525016-C-G | c.1869G>C | p.E623D | Missense | 8/10 | - | 2 |
20-9525017-T-A | c.1868A>T | p.E623V | Missense | 8/10 | - | 2 |
20-9525018-C-T | c.1867G>A | p.E623K | Missense | 8/10 | - | 2 |
20-9525020-G-A | c.1865C>T | p.T622I | Missense | 8/10 | - | 1 |
20-9525024-C-G | c.1861G>C | p.G621R | Missense | 8/10 | - | 5 |
20-9525024-C-T | c.1861G>A | p.G621R | Missense | 8/10 | - | 7 |
20-9525028-A-C | c.1857T>G | p.P619= | Synonymous | 8/10 | - | 2 |
20-9525031-T-A | c.1854A>T | p.L618= | Synonymous | 8/10 | - | 1 |
20-9525031-T-C | c.1854A>G | p.L618= | Synonymous | 8/10 | - | 1 |
20-9525031-T-G | c.1854A>C | p.L618= | Synonymous | 8/10 | - | 1 |
20-9525033-G-A | c.1852C>T | p.L618= | Synonymous | 8/10 | - | 3 |
20-9525038-G-A | c.1847C>T | p.S616F | Missense | 8/10 | - | 2 |
20-9525038-GA-G | c.1846del | p.S616Lfs*18 | Frameshift | 8/10 | - | 1 |
20-9525043-C-T | c.1842G>A | p.V614= | Synonymous | 8/10 | - | 2 |
20-9525046-C-T | c.1839G>A | p.E613= | Synonymous | 8/10 | - | 1 |
20-9525047-T-A | c.1838A>T | p.E613V | Missense | 8/10 | - | 2 |
20-9525047-T-G | c.1838A>C | p.E613A | Missense | 8/10 | - | 1 |
20-9525048-C-A | c.1837G>T | p.E613* | Nonsense | 8/10 | - | 7 |
20-9525048-C-T | c.1837G>A | p.E613K | Missense | 8/10 | - | 1 |
20-9525051-G-A | c.1834C>T | p.P612S | Missense | 8/10 | - | 1 |
20-9525052-G-A | c.1833C>T | p.A611= | Synonymous | 8/10 | - | 3 |
20-9525052-G-C | c.1833C>G | p.A611= | Synonymous | 8/10 | - | 1 |
20-9525052-G-T | c.1833C>A | p.A611= | Synonymous | 8/10 | - | 3 |
20-9525049-AG-A | c.1835del | p.P612Lfs*3 | Frameshift | 8/10 | - | 2 |
20-9525053-G-A | c.1832C>T | p.A611V | Missense | 8/10 | - | 1 |
20-9525054-C-A | c.1831G>T | p.A611S | Missense | 8/10 | - | 1 |
20-9525054-C-T | c.1831G>A | p.A611T | Missense | 8/10 | - | 1 |
20-9525055-C-A | c.1830G>T | p.M610I | Missense | 8/10 | - | 1 |
20-9525055-C-T | c.1830G>A | p.M610I | Missense | 8/10 | - | 3 |
20-9525056-A-T | c.1829T>A | p.M610K | Missense | 8/10 | - | 1 |
20-9525058-C-T | c.1827G>A | p.W609* | Nonsense | 8/10 | - | 3 |
20-9525059-C-A | c.1826G>T | p.W609L | Missense | 8/10 | - | 1 |
20-9525059-C-T | c.1826G>A | p.W609* | Nonsense | 8/10 | - | 1 |
20-9525064-G-T | c.1821C>A | p.P607= | Synonymous | 8/10 | - | 2 |
20-9525065-G-A | c.1820C>T | p.P607L | Missense | 8/10 | - | 2 |
20-9525066-G-A | c.1819C>T | p.P607S | Missense | 8/10 | - | 5 |
20-9525066-G-C | c.1819C>G | p.P607A | Missense | 8/10 | - | 2 |
20-9525066-G-T | c.1819C>A | p.P607T | Missense | 8/10 | - | 2 |
20-9525070-G-A | c.1815C>T | p.G605= | Synonymous | 8/10 | - | 2 |
20-9525071-C-T | c.1814G>A | p.G605D | Missense | 8/10 | - | 2 |
20-9525072-C-A | c.1813G>T | p.G605C | Missense | 8/10 | - | 1 |
20-9525072-C-G | c.1813G>C | p.G605R | Missense | 8/10 | - | 1 |
20-9525073-A-T | c.1812T>A | p.V604= | Synonymous | 8/10 | - | 1 |
20-9525074-A-G | c.1811T>C | p.V604A | Missense | 8/10 | - | 2 |
20-9525075-C-A | c.1810G>T | p.V604F | Missense | 8/10 | - | 4 |
20-9525075-C-T | c.1810G>A | p.V604I | Missense | 8/10 | - | 4 |
20-9525076-C-A | c.1809G>T | p.L603F | Missense | 8/10 | - | 1 |
20-9525076-C-G | c.1809G>C | p.L603F | Missense | 8/10 | - | 1 |
20-9525076-C-T | c.1809G>A | p.L603= | Synonymous | 8/10 | - | 2 |
20-9525078-A-G | c.1807T>C | p.L603= | Synonymous | 8/10 | - | 1 |
20-9525079-T-A | c.1806A>T | p.S602= | Synonymous | 8/10 | - | 1 |
20-9525079-T-C | c.1806A>G | p.S602= | Synonymous | 8/10 | - | 1 |
20-9525079-T-G | c.1806A>C | p.S602= | Synonymous | 8/10 | - | 1 |
20-9525079-TGA-CAT | c.1804_1806delinsATG | p.S602M | Missense | 8/10 | - | 1 |
20-9525080-G-A | c.1805C>T | p.S602L | Missense | 8/10 | - | 8 |
20-9525081-A-C | c.1804T>G | p.S602A | Missense | 8/10 | - | 1 |
20-9525084-T-A | c.1801A>T | p.K601* | Nonsense | 8/10 | - | 4 |
20-9525084-T-C | c.1801A>G | p.K601E | Missense | 8/10 | - | 2 |
20-9525085-C-T | c.1800G>A | p.R600= | Synonymous | 8/10 | - | 10 |
20-9525087-T-G | c.1798A>C | p.R600= | Synonymous | 8/10 | - | 4 |
20-9525091-C-A | c.1794G>T | p.P598= | Synonymous | 8/10 | - | 3 |
20-9525091-C-G | c.1794G>C | p.P598= | Synonymous | 8/10 | - | 2 |
20-9525091-C-T | c.1794G>A | p.P598= | Synonymous | 8/10 | - | 4 |
20-9525092-G-A | c.1793C>T | p.P598L | Missense | 8/10 | - | 6 |
20-9525092-G-T | c.1793C>A | p.P598Q | Missense | 8/10 | - | 2 |
20-9525093-G-T | c.1792C>A | p.P598T | Missense | 8/10 | - | 1 |
20-9525098-T-C | c.1787A>G | p.E596G | Missense | 8/10 | - | 1 |
20-9525099-C-A | c.1786G>T | p.E596* | Nonsense | 8/10 | - | 2 |
20-9525099-C-G | c.1786G>C | p.E596Q | Missense | 8/10 | - | 1 |
20-9525104-G-A | c.1781C>T | p.S594F | Missense | 8/10 | - | 3 |
20-9525108-C-T | c.1777G>A | p.V593I | Missense | 8/10 | - | 3 |
20-9525110-T-G | c.1775A>C | p.Q592P | Missense | 8/10 | - | 4 |
20-9525113-G-T | c.1772C>A | p.A591D | Missense | 8/10 | - | 4 |
20-9525114-C-A | c.1771G>T | p.A591S | Missense | 8/10 | - | 1 |
20-9525116-C-A | c.1769G>T | p.C590F | Missense | 8/10 | - | 1 |
20-9525119-A-G | c.1766T>C | p.F589S | Missense | 8/10 | - | 2 |
20-9525118-G-C | c.1767C>G | p.F589L | Missense | 8/10 | - | 1 |
20-9525118-G-T | c.1767C>A | p.F589L | Missense | 8/10 | - | 1 |
20-9525120-A-C | c.1765T>G | p.F589V | Missense | 8/10 | - | 1 |
20-9525120-A-G | c.1765T>C | p.F589L | Missense | 8/10 | - | 1 |
20-9525123-C-A | c.1762G>T | p.G588C | Missense | 8/10 | - | 1 |
20-9525123-C-T | c.1762G>A | p.G588S | Missense | 8/10 | - | 1 |
20-9525129-C-T | c.1756G>A | p.D586N | Missense | 8/10 | - | 5 |
20-9525131-GA-AT | c.1753_1754delinsAT | p.S585I | Missense | 8/10 | - | 1 |
20-9525133-C-T | c.1752G>A | p.L584= | Synonymous | 8/10 | - | 1 |
20-9525135-A-C | c.1750T>G | p.L584V | Missense | 8/10 | - | 1 |
20-9525136-C-T | c.1749G>A | p.K583= | Synonymous | 8/10 | - | 1 |
20-9525351-T-C | c.1744-210A>G | - | IntronicSNV | - | 7/9 | 1 |
20-9525601-T-C | c.1744-460A>G | - | IntronicSNV | - | 7/9 | 2 |
20-9527353-A-G | c.1744-2212T>C | - | IntronicSNV | - | 7/9 | 1 |
20-9537209-G-T | c.1743+1046C>A | - | IntronicSNV | - | 7/9 | 1 |
20-9538233-G-A | c.1743+22C>T | - | IntronicSNV | - | 7/9 | 1 |
20-9538252-T-A | c.1743+3A>T | - | IntronicSNV | - | 7/9 | 1 |
20-9538256-C-T | c.1742G>A | p.R581Q | Missense | 7/10 | - | 2 |
20-9538257-G-A | c.1741C>T | p.R581W | Missense | 7/10 | - | 1 |
20-9538258-G-A | c.1740C>T | p.G580= | Synonymous | 7/10 | - | 1 |
20-9538258-G-C | c.1740C>G | p.G580= | Synonymous | 7/10 | - | 1 |
20-9538258-G-T | c.1740C>A | p.G580= | Synonymous | 7/10 | - | 1 |
20-9538259-C-T | c.1739G>A | p.G580D | Missense | 7/10 | - | 1 |
20-9538263-C-T | c.1735G>A | p.D579N | Missense | 7/10 | - | 4 |
20-9538264-G-A | c.1734C>T | p.S578= | Synonymous | 7/10 | - | 1 |
20-9538264-G-T | c.1734C>A | p.S578R | Missense | 7/10 | - | 2 |
20-9538271-A-C | c.1727T>G | p.L576R | Missense | 7/10 | - | 1 |
20-9538273-G-A | c.1725C>T | p.L575= | Synonymous | 7/10 | - | 5 |
20-9538273-G-C | c.1725C>G | p.L575= | Synonymous | 7/10 | - | 2 |
20-9538273-G-T | c.1725C>A | p.L575= | Synonymous | 7/10 | - | 4 |
20-9538275-G-A | c.1723C>T | p.L575F | Missense | 7/10 | - | 1 |
20-9538276-G-A | c.1722C>T | p.I574= | Synonymous | 7/10 | - | 3 |
20-9538278-T-G | c.1720A>C | p.I574L | Missense | 7/10 | - | 1 |
20-9538279-G-A | c.1719C>T | p.S573= | Synonymous | 7/10 | - | 1 |
20-9538280-GA-TT | c.1717_1718delinsAA | p.S573N | Missense | 7/10 | - | 9 |
20-9538291-T-C | c.1707A>G | p.I569M | Missense | 7/10 | - | 2 |
20-9538292-A-G | c.1706T>C | p.I569T | Missense | 7/10 | - | 1 |
20-9538296-C-T | c.1702G>A | p.D568N | Missense | 7/10 | - | 7 |
20-9538298-CT-TG | c.1699_1700delinsCA | p.R567Q | Missense | 7/10 | - | 1 |
20-9538302-G-A | c.1696C>T | p.H566Y | Missense | 7/10 | - | 5 |
20-9538306-C-T | c.1692G>A | p.V564= | Synonymous | 7/10 | - | 2 |
20-9538308-C-T | c.1690G>A | p.V564M | Missense | 7/10 | - | 3 |
20-9538310-C-T | c.1688G>A | p.G563E | Missense | 7/10 | - | 2 |
20-9538319-T-C | c.1679A>G | p.H560R | Missense | 7/10 | - | 2 |
20-9538320-G-A | c.1678C>T | p.H560Y | Missense | 7/10 | - | 6 |
20-9538323-G-T | c.1675C>A | p.L559I | Missense | 7/10 | - | 5 |
20-9538327-G-A | c.1671C>T | p.S557= | Synonymous | 7/10 | - | 3 |
20-9538328-G-A | c.1670C>T | p.S557F | Missense | 7/10 | - | 1 |
20-9538331-A-G | c.1667T>C | p.L556P | Missense | 7/10 | - | 1 |
20-9538332-G-T | c.1666C>A | p.L556I | Missense | 7/10 | - | 1 |
20-9538334-G-A | c.1664C>T | p.A555V | Missense | 7/10 | - | 1 |
20-9538334-G-T | c.1664C>A | p.A555D | Missense | 7/10 | - | 4 |
20-9538335-C-A | c.1663G>T | p.A555S | Missense | 7/10 | - | 6 |
20-9538335-C-G | c.1663G>C | p.A555P | Missense | 7/10 | - | 2 |
20-9538335-C-T | c.1663G>A | p.A555T | Missense | 7/10 | - | 3 |
20-9538336-T-A | c.1662A>T | p.R554S | Missense | 7/10 | - | 3 |
20-9538336-TCT-ACA | c.1660_1662delinsTGT | p.R554C | Missense | 7/10 | - | 1 |
20-9538336-T-G | c.1662A>C | p.R554S | Missense | 7/10 | - | 2 |
20-9538338-T-C | c.1660A>G | p.R554G | Missense | 7/10 | - | 1 |
20-9538338-T-G | c.1660A>C | p.R554= | Synonymous | 7/10 | - | 1 |
20-9538340-A-C | c.1658T>G | p.L553R | Missense | 7/10 | - | 1 |
20-9538341-G-T | c.1657C>A | p.L553M | Missense | 7/10 | - | 1 |
20-9538344-C-T | c.1654G>A | p.V552I | Missense | 7/10 | - | 3 |
20-9538346-G-C | c.1652C>G | p.S551* | Nonsense | 7/10 | - | 1 |
20-9538346-G-T | c.1652C>A | p.S551* | Nonsense | 7/10 | - | 3 |
20-9538350-G-A | c.1648C>T | p.L550= | Synonymous | 7/10 | - | 1 |
20-9538352-C-T | c.1646G>A | p.C549Y | Missense | 7/10 | - | 1 |
20-9538353-A-C | c.1645T>G | p.C549G | Missense | 7/10 | - | 1 |
20-9538358-G-A | c.1640C>T | p.T547I | Missense | 7/10 | - | 1 |
20-9538358-G-T | c.1640C>A | p.T547N | Missense | 7/10 | - | 2 |
20-9538363-TAT-AAA | c.1633_1635delinsTTT | p.I545F | Missense | 7/10 | - | 1 |
20-9538368-G-C | c.1630C>G | p.Q544E | Missense | 7/10 | - | 1 |
20-9538369-T-A | c.1629A>T | p.E543D | Missense | 7/10 | - | 2 |
20-9538369-T-G | c.1629A>C | p.E543D | Missense | 7/10 | - | 2 |
20-9538371-C-A | c.1627G>T | p.E543* | Nonsense | 7/10 | - | 1 |
20-9538373-T-G | c.1625A>C | p.E542A | Missense | 7/10 | - | 1 |
20-9538374-C-T | c.1624G>A | p.E542K | Missense | 7/10 | - | 17 |
20-9538378-C-A | c.1620G>T | p.M540I | Missense | 7/10 | - | 1 |
20-9538378-C-G | c.1620G>C | p.M540I | Missense | 7/10 | - | 2 |
20-9538378-C-T | c.1620G>A | p.M540I | Missense | 7/10 | - | 3 |
20-9543510-G-A | c.1616+28C>T | - | IntronicSNV | - | 6/9 | 1 |
20-9543537-C-G | c.1616+1G>C | - | IntronicSNV | - | 6/9 | 1 |
20-9543540-G-A | c.1614C>T | p.T538= | Synonymous | 6/10 | - | 1 |
20-9543541-G-C | c.1613C>G | p.T538S | Missense | 6/10 | - | 1 |
20-9543541-G-T | c.1613C>A | p.T538N | Missense | 6/10 | - | 8 |
20-9543542-T-A | c.1612A>T | p.T538S | Missense | 6/10 | - | 1 |
20-9543542-T-C | c.1612A>G | p.T538A | Missense | 6/10 | - | 1 |
20-9543545-G-A | c.1609C>T | p.H537Y | Missense | 6/10 | - | 6 |
20-9543547-G-C | c.1607C>G | p.T536S | Missense | 6/10 | - | 1 |
20-9543550-A-G | c.1604T>C | p.V535A | Missense | 6/10 | - | 1 |
20-9543551-C-A | c.1603G>T | p.V535L | Missense | 6/10 | - | 1 |
20-9543551-C-G | c.1603G>C | p.V535L | Missense | 6/10 | - | 2 |
20-9543552-A-C | c.1602T>G | p.I534M | Missense | 6/10 | - | 1 |
20-9543555-G-A | c.1599C>T | p.D533= | Synonymous | 6/10 | - | 1 |
20-9543557-C-T | c.1597G>A | p.D533N | Missense | 6/10 | - | 7 |
20-9543559-GT-CC | c.1594_1595delinsGG | p.T532G | Missense | 6/10 | - | 1 |
20-9543569-C-T | c.1585G>A | p.G529S | Missense | 6/10 | - | 2 |
20-9543570-A-C | c.1584T>G | p.G528= | Synonymous | 6/10 | - | 1 |
20-9543570-A-G | c.1584T>C | p.G528= | Synonymous | 6/10 | - | 1 |
20-9543570-A-T | c.1584T>A | p.G528= | Synonymous | 6/10 | - | 1 |
20-9543572-C-T | c.1582G>A | p.G528S | Missense | 6/10 | - | 4 |
20-9543575-C-T | c.1579G>A | p.E527K | Missense | 6/10 | - | 1 |
20-9543577-A-G | c.1577T>C | p.L526P | Missense | 6/10 | - | 3 |
20-9543580-A-T | c.1574T>A | p.F525Y | Missense | 6/10 | - | 1 |
20-9543581-A-G | c.1573T>C | p.F525L | Missense | 6/10 | - | 1 |
20-9543582-C-A | c.1572G>T | p.E524D | Missense | 6/10 | - | 2 |
20-9543585-C-A | c.1569G>T | p.M523I | Missense | 6/10 | - | 2 |
20-9543585-C-G | c.1569G>C | p.M523I | Missense | 6/10 | - | 2 |
20-9543585-C-T | c.1569G>A | p.M523I | Missense | 6/10 | - | 7 |
20-9543586-A-T | c.1568T>A | p.M523K | Missense | 6/10 | - | 1 |
20-9543586-AT-CC | c.1567_1568delinsGG | p.M523G | Missense | 6/10 | - | 1 |
20-9543589-A-C | c.1565T>G | p.V522G | Missense | 6/10 | - | 1 |
20-9543593-C-A | c.1561G>T | p.V521L | Missense | 6/10 | - | 1 |
20-9543593-C-G | c.1561G>C | p.V521L | Missense | 6/10 | - | 1 |
20-9543593-C-T | c.1561G>A | p.V521M | Missense | 6/10 | - | 1 |
20-9543594-C-T | c.1560G>A | p.W520* | Nonsense | 6/10 | - | 1 |
20-9543595-C-T | c.1559G>A | p.W520* | Nonsense | 6/10 | - | 1 |
20-9543599-G-A | c.1555C>T | p.L519F | Missense | 6/10 | - | 1 |
20-9543602-C-T | c.1552G>A | p.E518K | Missense | 6/10 | - | 4 |
20-9543603-A-C | c.1551T>G | p.D517E | Missense | 6/10 | - | 2 |
20-9543603-A-T | c.1551T>A | p.D517E | Missense | 6/10 | - | 1 |
20-9543605-C-T | c.1549G>A | p.D517N | Missense | 6/10 | - | 13 |
20-9543608-C-T | c.1546G>A | p.G516S | Missense | 6/10 | - | 2 |
20-9543619-C-T | c.1535G>A | p.S512N | Missense | 6/10 | - | 1 |
20-9543621-G-A | c.1533C>T | p.S511= | Synonymous | 6/10 | - | 2 |
20-9543622-C-G | c.1532G>C | p.S511T | Missense | 6/10 | - | 10 |
20-9543622-C-T | c.1532G>A | p.S511N | Missense | 6/10 | - | 38 |
20-9543623-T-A | c.1531A>T | p.S511C | Missense | 6/10 | - | 2 |
20-9543625-GT-G | c.1529del | p.Y510Sfs*17 | Frameshift | 6/10 | - | 1 |
20-9543626-A-G | c.1528T>C | p.Y510H | Missense | 6/10 | - | 1 |
20-9543627-C-A | c.1527G>T | p.M509I | Missense | 6/10 | - | 3 |
20-9543627-C-G | c.1527G>C | p.M509I | Missense | 6/10 | - | 3 |
20-9543627-C-T | c.1527G>A | p.M509I | Missense | 6/10 | - | 3 |
20-9543631-T-C | c.1523A>G | p.D508G | Missense | 6/10 | - | 3 |
20-9543632-C-A | c.1522G>T | p.D508Y | Missense | 6/10 | - | 1 |
20-9543636-CAC-GAT | c.1516_1518delinsATC | p.V506I | Missense | 6/10 | - | 1 |
20-9543638-C-A | c.1516G>T | p.V506L | Missense | 6/10 | - | 2 |
20-9543638-C-G | c.1516G>C | p.V506L | Missense | 6/10 | - | 2 |
20-9543640-T-C | c.1514A>G | p.N505S | Missense | 6/10 | - | 1 |
20-9543642-G-A | c.1512C>T | p.D504= | Synonymous | 6/10 | - | 1 |
20-9543642-G-C | c.1512C>G | p.D504E | Missense | 6/10 | - | 2 |
20-9543642-G-T | c.1512C>A | p.D504E | Missense | 6/10 | - | 4 |
20-9543644-C-T | c.1510G>A | p.D504N | Missense | 6/10 | - | 1 |
20-9543647-G-A | c.1507C>T | p.H503Y | Missense | 6/10 | - | 1 |
20-9543651-G-T | c.1503C>A | p.Y501* | Nonsense | 6/10 | - | 2 |
20-9543654-A-T | c.1500T>A | p.D500E | Missense | 6/10 | - | 1 |
20-9543656-C-A | c.1498G>T | p.D500Y | Missense | 6/10 | - | 1 |
20-9543656-C-T | c.1498G>A | p.D500N | Missense | 6/10 | - | 9 |
20-9543657-C-T | c.1497G>A | p.R499= | Synonymous | 6/10 | - | 2 |
20-9543658-C-T | c.1496G>A | p.R499Q | Missense | 6/10 | - | 1 |
20-9543657-C-A | c.1497G>T | p.R499= | Synonymous | 6/10 | - | 1 |
20-9543657-C-G | c.1497G>C | p.R499= | Synonymous | 6/10 | - | 1 |
20-9543659-G-T | c.1495C>A | p.R499= | Synonymous | 6/10 | - | 1 |
20-9543660-C-A | c.1494G>T | p.M498I | Missense | 6/10 | - | 1 |
20-9543660-C-G | c.1494G>C | p.M498I | Missense | 6/10 | - | 1 |
20-9543660-C-T | c.1494G>A | p.M498I | Missense | 6/10 | - | 1 |
20-9543666-C-T | c.1488G>A | p.V496= | Synonymous | 6/10 | - | 3 |
20-9543668-C-T | c.1486G>A | p.V496M | Missense | 6/10 | - | 1 |
20-9543669-G-A | c.1485C>T | p.V495= | Synonymous | 6/10 | - | 8 |
20-9543669-G-C | c.1485C>G | p.V495= | Synonymous | 6/10 | - | 2 |
20-9543669-G-T | c.1485C>A | p.V495= | Synonymous | 6/10 | - | 2 |
20-9543670-A-C | c.1484T>G | p.V495G | Missense | 6/10 | - | 5 |
20-9543681-C-G | c.1483-10G>C | - | IntronicSNV | - | 5/9 | 6 |
20-9543681-C-T | c.1483-10G>A | - | IntronicSNV | - | 5/9 | 6 |
20-9543688-T-G | c.1483-17A>C | - | IntronicSNV | - | 5/9 | 6 |
20-9543707-G-A | c.1483-36C>T | - | IntronicSNV | - | 5/9 | 1 |
20-9543833-G-A | c.1483-162C>T | - | IntronicSNV | - | 5/9 | 1 |
20-9543833-G-C | c.1483-162C>G | - | IntronicSNV | - | 5/9 | 1 |
20-9546469-T-C | c.1482+71A>G | - | IntronicSNV | - | 5/9 | 1 |
20-9546540-C-A | c.1482G>T | p.E494D | Missense | 5/10 | - | 1 |
20-9546540-C-G | c.1482G>C | p.E494D | Missense | 5/10 | - | 1 |
20-9546542-C-A | c.1480G>T | p.E494* | Nonsense | 5/10 | - | 1 |
20-9546546-G-C | c.1476C>G | p.F492L | Missense | 5/10 | - | 1 |
20-9546546-G-T | c.1476C>A | p.F492L | Missense | 5/10 | - | 1 |
20-9546548-A-G | c.1474T>C | p.F492L | Missense | 5/10 | - | 1 |
20-9546552-C-A | c.1470G>T | p.L490= | Synonymous | 5/10 | - | 2 |
20-9546552-C-G | c.1470G>C | p.L490= | Synonymous | 5/10 | - | 2 |
20-9546552-C-T | c.1470G>A | p.L490= | Synonymous | 5/10 | - | 2 |
20-9546554-G-A | c.1468C>T | p.L490= | Synonymous | 5/10 | - | 12 |
20-9546557-C-A | c.1465G>T | p.E489* | Nonsense | 5/10 | - | 2 |
20-9546559-C-G | c.1463G>C | p.R488P | Missense | 5/10 | - | 3 |
20-9546559-C-T | c.1463G>A | p.R488Q | Missense | 5/10 | - | 9 |
20-9546560-G-A | c.1462C>T | p.R488* | Nonsense | 5/10 | - | 8 |
20-9546562-C-T | c.1460G>A | p.R487K | Missense | 5/10 | - | 2 |
20-9546564-C-T | c.1458G>A | p.Q486= | Synonymous | 5/10 | - | 1 |
20-9546566-G-A | c.1456C>T | p.Q486* | Nonsense | 5/10 | - | 1 |
20-9546566-G-T | c.1456C>A | p.Q486K | Missense | 5/10 | - | 5 |
20-9546567-T-A | c.1455A>T | p.Q485H | Missense | 5/10 | - | 1 |
20-9546567-T-G | c.1455A>C | p.Q485H | Missense | 5/10 | - | 1 |
20-9546571-T-C | c.1451A>G | p.K484R | Missense | 5/10 | - | 1 |
20-9546573-C-T | c.1449G>A | p.R483= | Synonymous | 5/10 | - | 3 |
20-9546574-C-T | c.1448G>A | p.R483Q | Missense | 5/10 | - | 9 |
20-9546575-G-A | c.1447C>T | p.R483W | Missense | 5/10 | - | 2 |
20-9546577-A-C | c.1445T>G | p.L482R | Missense | 5/10 | - | 5 |
20-9546581-C-A | c.1441G>T | p.D481Y | Missense | 5/10 | - | 1 |
20-9546582-C-T | c.1440G>A | p.M480I | Missense | 5/10 | - | 1 |
20-9546583-A-G | c.1439T>C | p.M480T | Missense | 5/10 | - | 1 |
20-9546588-C-T | c.1434G>A | p.K478= | Synonymous | 5/10 | - | 1 |
20-9546589-T-A | c.1433A>T | p.K478M | Missense | 5/10 | - | 9 |
20-9546589-TT-GC | c.1432_1433delinsGC | p.K478A | Missense | 5/10 | - | 1 |
20-9546590-T-A | c.1432A>T | p.K478* | Nonsense | 5/10 | - | 1 |
20-9546591-C-A | c.1431G>T | p.V477= | Synonymous | 5/10 | - | 1 |
20-9546591-C-G | c.1431G>C | p.V477= | Synonymous | 5/10 | - | 1 |
20-9546591-C-T | c.1431G>A | p.V477= | Synonymous | 5/10 | - | 3 |
20-9546596-C-T | c.1426G>A | p.A476T | Missense | 5/10 | - | 1 |
20-9546599-C-T | c.1423G>A | p.V475I | Missense | 5/10 | - | 1 |
20-9546603-T-A | c.1419A>T | p.K473N | Missense | 5/10 | - | 1 |
20-9546603-T-C | c.1419A>G | p.K473= | Synonymous | 5/10 | - | 1 |
20-9546603-T-G | c.1419A>C | p.K473N | Missense | 5/10 | - | 1 |
20-9546605-T-TA | c.1416_1417insT | p.K473* | Nonsense | 5/10 | - | 2 |
20-9546606-C-T | c.1416G>A | p.G472= | Synonymous | 5/10 | - | 3 |
20-9546607-C-A | c.1415G>T | p.G472V | Missense | 5/10 | - | 1 |
20-9546607-C-T | c.1415G>A | p.G472E | Missense | 5/10 | - | 2 |
20-9546605-TC-T | c.1416del | p.K473Nfs*5 | Frameshift | 5/10 | - | 1 |
20-9546608-C-G | c.1414G>C | p.G472R | Missense | 5/10 | - | 1 |
20-9546608-C-T | c.1414G>A | p.G472R | Missense | 5/10 | - | 1 |
20-9546609-T-C | c.1413A>G | p.T471= | Synonymous | 5/10 | - | 2 |
20-9546609-TG-GT | c.1412_1413delinsAC | p.T471N | Missense | 5/10 | - | 1 |
20-9546612-G-A | c.1410C>T | p.H470= | Synonymous | 5/10 | - | 1 |
20-9546618-C-A | c.1404G>T | p.E468D | Missense | 5/10 | - | 1 |
20-9546618-C-G | c.1404G>C | p.E468D | Missense | 5/10 | - | 1 |
20-9546618-C-T | c.1404G>A | p.E468= | Synonymous | 5/10 | - | 1 |
20-9546620-C-T | c.1402G>A | p.E468K | Missense | 5/10 | - | 5 |
20-9546621-G-A | c.1401C>T | p.T467= | Synonymous | 5/10 | - | 6 |
20-9546621-G-C | c.1401C>G | p.T467= | Synonymous | 5/10 | - | 3 |
20-9546621-G-T | c.1401C>A | p.T467= | Synonymous | 5/10 | - | 5 |
20-9546622-G-A | c.1400C>T | p.T467I | Missense | 5/10 | - | 1 |
20-9546622-G-T | c.1400C>A | p.T467N | Missense | 5/10 | - | 1 |
20-9546624-G-T | c.1398C>A | p.A466= | Synonymous | 5/10 | - | 1 |
20-9546626-C-T | c.1396G>A | p.A466T | Missense | 5/10 | - | 13 |
20-9546627-G-A | c.1395C>T | p.I465= | Synonymous | 5/10 | - | 6 |
20-9546627-G-C | c.1395C>G | p.I465M | Missense | 5/10 | - | 1 |
20-9546627-G-T | c.1395C>A | p.I465= | Synonymous | 5/10 | - | 3 |
20-9546629-T-C | c.1393A>G | p.I465V | Missense | 5/10 | - | 1 |
20-9546631-C-T | c.1391G>A | p.C464Y | Missense | 5/10 | - | 1 |
20-9546634-A-G | c.1388T>C | p.V463A | Missense | 5/10 | - | 5 |
20-9546635-C-A | c.1387G>T | p.V463L | Missense | 5/10 | - | 2 |
20-9546635-C-G | c.1387G>C | p.V463L | Missense | 5/10 | - | 2 |
20-9546635-C-T | c.1387G>A | p.V463I | Missense | 5/10 | - | 2 |
20-9546636-G-A | c.1386C>T | p.I462= | Synonymous | 5/10 | - | 4 |
20-9546636-G-T | c.1386C>A | p.I462= | Synonymous | 5/10 | - | 1 |
20-9546637-A-T | c.1385T>A | p.I462N | Missense | 5/10 | - | 1 |
20-9546639-GCC-AAAAAA | c.1381_1383delinsTTTTTT | p.G461delinsFF | MultiAAMissense | 5/10 | - | 1 |
20-9546640-CC-AA | c.1381_1382delinsTT | p.G461F | Missense | 5/10 | - | 1 |
20-9546641-C-A | c.1381G>T | p.G461C | Missense | 5/10 | - | 2 |
20-9546641-C-T | c.1381G>A | p.G461S | Missense | 5/10 | - | 2 |
20-9546642-G-A | c.1380C>T | p.T460= | Synonymous | 5/10 | - | 1 |
20-9546642-G-C | c.1380C>G | p.T460= | Synonymous | 5/10 | - | 2 |
20-9546643-G-T | c.1379C>A | p.T460N | Missense | 5/10 | - | 3 |
20-9546645-TGA-GTT | c.1375_1377delinsAAC | p.S459N | Missense | 5/10 | - | 1 |
20-9546647-A-T | c.1375T>A | p.S459T | Missense | 5/10 | - | 7 |
20-9546650-C-T | c.1372G>A | p.G458S | Missense | 5/10 | - | 1 |
20-9546652-T-A | c.1370A>T | p.E457V | Missense | 5/10 | - | 1 |
20-9546653-C-T | c.1369G>A | p.E457K | Missense | 5/10 | - | 4 |
20-9546655-C-A | c.1367G>T | p.G456V | Missense | 5/10 | - | 2 |
20-9546656-C-G | c.1366G>C | p.G456R | Missense | 5/10 | - | 1 |
20-9546656-C-T | c.1366G>A | p.G456R | Missense | 5/10 | - | 2 |
20-9546657-G-A | c.1365C>T | p.I455= | Synonymous | 5/10 | - | 4 |
20-9546657-G-T | c.1365C>A | p.I455= | Synonymous | 5/10 | - | 3 |
20-9546658-A-G | c.1364T>C | p.I455T | Missense | 5/10 | - | 3 |
20-9546661-T-G | c.1361A>C | p.K454T | Missense | 5/10 | - | 1 |
20-9546663-G-C | c.1359C>G | p.I453M | Missense | 5/10 | - | 3 |
20-9546673-G-A | c.1349C>T | p.A450V | Missense | 5/10 | - | 3 |
20-9546673-G-T | c.1349C>A | p.A450D | Missense | 5/10 | - | 2 |
20-9546674-C-T | c.1348G>A | p.A450T | Missense | 5/10 | - | 1 |
20-9546677-A-T | c.1345T>A | p.L449M | Missense | 5/10 | - | 2 |
20-9546680-A-T | c.1342T>A | p.Y448N | Missense | 5/10 | - | 1 |
20-9546681-T-A | c.1341A>T | p.E447D | Missense | 5/10 | - | 1 |
20-9546681-T-G | c.1341A>C | p.E447D | Missense | 5/10 | - | 2 |
20-9546683-C-T | c.1339G>A | p.E447K | Missense | 5/10 | - | 9 |
20-9546684-C-T | c.1338G>A | p.R446= | Synonymous | 5/10 | - | 4 |
20-9546686-T-G | c.1336A>C | p.R446= | Synonymous | 5/10 | - | 1 |
20-9546685-C-T | c.1337G>A | p.R446K | Missense | 5/10 | - | 1 |
20-9546688-G-T | c.1334C>A | p.P445H | Missense | 5/10 | - | 1 |
20-9546690-G-A | c.1332C>T | p.D444= | Synonymous | 5/10 | - | 2 |
20-9546692-C-T | c.1330G>A | p.D444N | Missense | 5/10 | - | 2 |
20-9546694-C-T | c.1328G>A | p.G443E | Missense | 5/10 | - | 7 |
20-9546697-G-A | c.1325C>T | p.P442L | Missense | 5/10 | - | 2 |
20-9546698-G-T | c.1324C>A | p.P442T | Missense | 5/10 | - | 1 |
20-9546696-TG-T | c.1325del | p.P442Qfs*36 | Frameshift | 5/10 | - | 1 |
20-9546700-C-A | c.1322G>T | p.S441I | Missense | 5/10 | - | 1 |
20-9546700-C-T | c.1322G>A | p.S441N | Missense | 5/10 | - | 2 |
20-9546702-G-A | c.1320C>T | p.V440= | Synonymous | 5/10 | - | 6 |
20-9546702-G-C | c.1320C>G | p.V440= | Synonymous | 5/10 | - | 1 |
20-9546702-G-T | c.1320C>A | p.V440= | Synonymous | 5/10 | - | 1 |
20-9546703-A-C | c.1319T>G | p.V440G | Missense | 5/10 | - | 1 |
20-9546703-A-G | c.1319T>C | p.V440A | Missense | 5/10 | - | 2 |
20-9546708-C-A | c.1314G>T | p.L438= | Synonymous | 5/10 | - | 2 |
20-9546708-C-G | c.1314G>C | p.L438= | Synonymous | 5/10 | - | 1 |
20-9546708-C-T | c.1314G>A | p.L438= | Synonymous | 5/10 | - | 2 |
20-9546710-G-A | c.1312C>T | p.L438= | Synonymous | 5/10 | - | 1 |
20-9546708-C-CA | c.1313dup | p.V439Gfs*56 | Frameshift | 5/10 | - | 1 |
20-9546711-C-A | c.1311G>T | p.Q437H | Missense | 5/10 | - | 1 |
20-9546714-CAG-AAA | c.1306_1308delinsTTT | p.L436F | Missense | 5/10 | - | 1 |
20-9546714-C-T | c.1308G>A | p.L436= | Synonymous | 5/10 | - | 2 |
20-9546716-G-A | c.1306C>T | p.L436= | Synonymous | 5/10 | - | 2 |
20-9546715-AG-A | c.1306del | p.L436Cfs*42 | Frameshift | 5/10 | - | 1 |
20-9546718-G-A | c.1304C>T | p.A435V | Missense | 5/10 | - | 1 |
20-9546720-C-T | c.1302G>A | p.A434= | Synonymous | 5/10 | - | 2 |
20-9546721-G-A | c.1301C>T | p.A434V | Missense | 5/10 | - | 5 |
20-9546721-G-C | c.1301C>G | p.A434G | Missense | 5/10 | - | 1 |
20-9546723-C-T | c.1299G>A | p.R433= | Synonymous | 5/10 | - | 1 |
20-9546724-C-T | c.1298G>A | p.R433Q | Missense | 5/10 | - | 2 |
20-9546725-G-A | c.1297C>T | p.R433W | Missense | 5/10 | - | 8 |
20-9546727-A-T | c.1295T>A | p.F432Y | Missense | 5/10 | - | 2 |
20-9546729-C-A | c.1293G>T | p.Q431H | Missense | 5/10 | - | 2 |
20-9546729-C-G | c.1293G>C | p.Q431H | Missense | 5/10 | - | 2 |
20-9546730-T-G | c.1292A>C | p.Q431P | Missense | 5/10 | - | 1 |
20-9546737-G-T | c.1285C>A | p.H429N | Missense | 5/10 | - | 1 |
20-9546738-G-A | c.1284C>T | p.S428= | Synonymous | 5/10 | - | 3 |
20-9546740-A-G | c.1282T>C | p.S428P | Missense | 5/10 | - | 3 |
20-9546742-A-T | c.1280T>A | p.V427E | Missense | 5/10 | - | 1 |
20-9546743-C-G | c.1279G>C | p.V427L | Missense | 5/10 | - | 1 |
20-9546744-CCT-ATG | c.1276_1278delinsCAT | p.R426H | Missense | 5/10 | - | 1 |
20-9546748-G-A | c.1274C>T | p.S425F | Missense | 5/10 | - | 3 |
20-9546751-G-A | c.1271C>T | p.P424L | Missense | 5/10 | - | 4 |
20-9546752-G-A | c.1270C>T | p.P424S | Missense | 5/10 | - | 1 |
20-9546754-T-C | c.1268A>G | p.Q423R | Missense | 5/10 | - | 1 |
20-9546755-G-C | c.1267C>G | p.Q423E | Missense | 5/10 | - | 3 |
20-9546755-G-T | c.1267C>A | p.Q423K | Missense | 5/10 | - | 3 |
20-9546756-C-T | c.1266G>A | p.Q422= | Synonymous | 5/10 | - | 1 |
20-9546761-C-T | c.1261G>A | p.D421N | Missense | 5/10 | - | 13 |
20-9546762-G-A | c.1260C>T | p.S420= | Synonymous | 5/10 | - | 6 |
20-9546762-G-C | c.1260C>G | p.S420= | Synonymous | 5/10 | - | 2 |
20-9546762-G-T | c.1260C>A | p.S420= | Synonymous | 5/10 | - | 5 |
20-9546763-G-A | c.1259C>T | p.S420F | Missense | 5/10 | - | 3 |
20-9546764-A-G | c.1258T>C | p.S420P | Missense | 5/10 | - | 1 |
20-9546766-G-A | c.1256C>T | p.S419F | Missense | 5/10 | - | 9 |
20-9546769-G-A | c.1253C>T | p.S418F | Missense | 5/10 | - | 4 |
20-9546772-C-A | c.1250G>T | p.G417V | Missense | 5/10 | - | 2 |
20-9546772-CC-TT | c.1249_1250delinsAA | p.G417N | Missense | 5/10 | - | 1 |
20-9546772-C-T | c.1250G>A | p.G417D | Missense | 5/10 | - | 2 |
20-9546773-C-T | c.1249G>A | p.G417S | Missense | 5/10 | - | 2 |
20-9546778-C-A | c.1244G>T | p.S415I | Missense | 5/10 | - | 1 |
20-9546778-C-T | c.1244G>A | p.S415N | Missense | 5/10 | - | 4 |
20-9546779-T-TA | c.1242_1243insT | p.S415* | Nonsense | 5/10 | - | 1 |
20-9546782-G-A | c.1240C>T | p.P414S | Missense | 5/10 | - | 1 |
20-9546783-C-A | c.1239G>T | p.P413= | Synonymous | 5/10 | - | 2 |
20-9546783-C-G | c.1239G>C | p.P413= | Synonymous | 5/10 | - | 2 |
20-9546783-C-T | c.1239G>A | p.P413= | Synonymous | 5/10 | - | 5 |
20-9546784-G-A | c.1238C>T | p.P413L | Missense | 5/10 | - | 1 |
20-9546787-G-T | c.1235C>A | p.P412Q | Missense | 5/10 | - | 1 |
20-9546788-G-A | c.1234C>T | p.P412S | Missense | 5/10 | - | 1 |
20-9546789-G-C | c.1233C>G | p.Y411* | Nonsense | 5/10 | - | 1 |
20-9546789-G-T | c.1233C>A | p.Y411* | Nonsense | 5/10 | - | 1 |
20-9546791-A-G | c.1231T>C | p.Y411H | Missense | 5/10 | - | 1 |
20-9546791-A-T | c.1231T>A | p.Y411N | Missense | 5/10 | - | 1 |
20-9546792-G-A | c.1230C>T | p.T410= | Synonymous | 5/10 | - | 3 |
20-9546792-G-C | c.1230C>G | p.T410= | Synonymous | 5/10 | - | 1 |
20-9546792-G-T | c.1230C>A | p.T410= | Synonymous | 5/10 | - | 1 |
20-9546795-G-C | c.1227C>G | p.S409R | Missense | 5/10 | - | 2 |
20-9546795-G-T | c.1227C>A | p.S409R | Missense | 5/10 | - | 3 |
20-9546797-T-G | c.1225A>C | p.S409R | Missense | 5/10 | - | 2 |
20-9546796-C-A | c.1226G>T | p.S409I | Missense | 5/10 | - | 1 |
20-9546796-CT-AA | c.1225_1226delinsTT | p.S409F | Missense | 5/10 | - | 1 |
20-9546796-CT-AG | c.1225_1226inv | p.S409L | Missense | 5/10 | - | 1 |
20-9546798-G-T | c.1224C>A | p.S408= | Synonymous | 5/10 | - | 2 |
20-9546802-G-C | c.1220C>G | p.S407* | Nonsense | 5/10 | - | 3 |
20-9546802-G-T | c.1220C>A | p.S407* | Nonsense | 5/10 | - | 3 |
20-9546806-G-A | c.1216C>T | p.L406F | Missense | 5/10 | - | 2 |
20-9546806-G-T | c.1216C>A | p.L406I | Missense | 5/10 | - | 1 |
20-9546811-AG-CT | c.1210_1211inv | p.L404S | Missense | 5/10 | - | 1 |
20-9546811-A-T | c.1211T>A | p.L404H | Missense | 5/10 | - | 2 |
20-9546813-G-A | c.1209C>T | p.S403= | Synonymous | 5/10 | - | 3 |
20-9546817-C-T | c.1205G>A | p.S402N | Missense | 5/10 | - | 1 |
20-9546814-GAGCTCAGGTAGGA-G | c.1195_1207del | p.S399Pfs*75 | Frameshift | 5/10 | - | 1 |
20-9546820-A-C | c.1202T>G | p.L401R | Missense | 5/10 | - | 2 |
20-9546820-A-G | c.1202T>C | p.L401P | Missense | 5/10 | - | 1 |
20-9546824-A-G | c.1198T>C | p.Y400H | Missense | 5/10 | - | 1 |
20-9546826-G-A | c.1196C>T | p.S399F | Missense | 5/10 | - | 5 |
20-9546826-G-T | c.1196C>A | p.S399Y | Missense | 5/10 | - | 1 |
20-9546829-G-C | c.1193C>G | p.A398G | Missense | 5/10 | - | 1 |
20-9546830-C-T | c.1192G>A | p.A398T | Missense | 5/10 | - | 5 |
20-9546831-C-A | c.1191G>T | p.T397= | Synonymous | 5/10 | - | 4 |
20-9546831-C-G | c.1191G>C | p.T397= | Synonymous | 5/10 | - | 1 |
20-9546831-C-T | c.1191G>A | p.T397= | Synonymous | 5/10 | - | 3 |
20-9546832-G-A | c.1190C>T | p.T397M | Missense | 5/10 | - | 3 |
20-9546832-G-T | c.1190C>A | p.T397K | Missense | 5/10 | - | 2 |
20-9546835-G-A | c.1187C>T | p.S396F | Missense | 5/10 | - | 5 |
20-9546836-A-G | c.1186T>C | p.S396P | Missense | 5/10 | - | 1 |
20-9546837-G-A | c.1185C>T | p.I395= | Synonymous | 5/10 | - | 1 |
20-9546837-G-T | c.1185C>A | p.I395= | Synonymous | 5/10 | - | 1 |
20-9546839-T-G | c.1183A>C | p.I395L | Missense | 5/10 | - | 7 |
20-9546843-C-A | c.1179G>T | p.Q393H | Missense | 5/10 | - | 1 |
20-9546843-C-G | c.1179G>C | p.Q393H | Missense | 5/10 | - | 1 |
20-9546843-C-T | c.1179G>A | p.Q393= | Synonymous | 5/10 | - | 1 |
20-9546846-C-A | c.1176G>T | p.S392= | Synonymous | 5/10 | - | 2 |
20-9546847-G-A | c.1175C>T | p.S392L | Missense | 5/10 | - | 9 |
20-9546850-C-A | c.1172G>T | p.S391I | Missense | 5/10 | - | 1 |
20-9546851-T-C | c.1171A>G | p.S391G | Missense | 5/10 | - | 2 |
20-9546853-C-T | c.1169G>A | p.S390N | Missense | 5/10 | - | 1 |
20-9546859-A-C | c.1163T>G | p.L388R | Missense | 5/10 | - | 2 |
20-9546860-G-T | c.1162C>A | p.L388M | Missense | 5/10 | - | 1 |
20-9546862-G-A | c.1160C>T | p.S387F | Missense | 5/10 | - | 3 |
20-9546862-GA-TT | c.1159_1160delinsAA | p.S387N | Missense | 5/10 | - | 1 |
20-9546864-G-A | c.1158C>T | p.P386= | Synonymous | 5/10 | - | 2 |
20-9546864-G-C | c.1158C>G | p.P386= | Synonymous | 5/10 | - | 3 |
20-9546864-G-T | c.1158C>A | p.P386= | Synonymous | 5/10 | - | 4 |
20-9546866-G-C | c.1156C>G | p.P386A | Missense | 5/10 | - | 2 |
20-9546872-G-A | c.1150C>T | p.H384Y | Missense | 5/10 | - | 3 |
20-9546872-G-T | c.1150C>A | p.H384N | Missense | 5/10 | - | 1 |
20-9546873-G-A | c.1149C>T | p.Y383= | Synonymous | 5/10 | - | 2 |
20-9546873-G-C | c.1149C>G | p.Y383* | Nonsense | 5/10 | - | 1 |
20-9546886-T-G | c.1136A>C | p.K379T | Missense | 5/10 | - | 1 |
20-9546888-G-C | c.1134C>G | p.H378Q | Missense | 5/10 | - | 3 |
20-9546888-G-T | c.1134C>A | p.H378Q | Missense | 5/10 | - | 5 |
20-9546891-G-A | c.1131C>T | p.Y377= | Synonymous | 5/10 | - | 2 |
20-9546895-C-T | c.1127G>A | p.G376E | Missense | 5/10 | - | 1 |
20-9546896-C-A | c.1126G>T | p.G376W | Missense | 5/10 | - | 2 |
20-9546897-AG-TT | c.1124_1125delinsAA | p.S375* | Nonsense | 5/10 | - | 2 |
20-9546898-G-A | c.1124C>T | p.S375F | Missense | 5/10 | - | 1 |
20-9546898-G-T | c.1124C>A | p.S375Y | Missense | 5/10 | - | 1 |
20-9546900-C-T | c.1122G>A | p.P374= | Synonymous | 5/10 | - | 1 |
20-9546901-G-A | c.1121C>T | p.P374L | Missense | 5/10 | - | 4 |
20-9546902-G-A | c.1120C>T | p.P374S | Missense | 5/10 | - | 1 |
20-9546903-G-A | c.1119C>T | p.Y373= | Synonymous | 5/10 | - | 2 |
20-9546903-G-T | c.1119C>A | p.Y373* | Nonsense | 5/10 | - | 1 |
20-9546904-T-A | c.1118A>T | p.Y373F | Missense | 5/10 | - | 2 |
20-9546910-T-C | c.1112A>G | p.H371R | Missense | 5/10 | - | 1 |
20-9546911-G-A | c.1111C>T | p.H371Y | Missense | 5/10 | - | 2 |
20-9546913-C-A | c.1109G>T | p.S370I | Missense | 5/10 | - | 2 |
20-9546915-G-C | c.1107C>G | p.S369R | Missense | 5/10 | - | 4 |
20-9546915-G-T | c.1107C>A | p.S369R | Missense | 5/10 | - | 5 |
20-9546917-T-G | c.1105A>C | p.S369R | Missense | 5/10 | - | 4 |
20-9546919-G-A | c.1103C>T | p.S368L | Missense | 5/10 | - | 2 |
20-9546921-G-A | c.1101C>T | p.S367= | Synonymous | 5/10 | - | 3 |
20-9546922-G-A | c.1100C>T | p.S367F | Missense | 5/10 | - | 5 |
20-9546924-ATA-CTC | c.1096_1098delinsGAG | p.Y366E | Missense | 5/10 | - | 1 |
20-9546925-TA-GC | c.1096_1097delinsGC | p.Y366A | Missense | 5/10 | - | 1 |
20-9546926-A-G | c.1096T>C | p.Y366H | Missense | 5/10 | - | 1 |
20-9546928-C-A | c.1094G>T | p.G365V | Missense | 5/10 | - | 4 |
20-9546931-G-A | c.1091C>T | p.S364L | Missense | 5/10 | - | 14 |
20-9546931-G-T | c.1091C>A | p.S364* | Nonsense | 5/10 | - | 1 |
20-9546933-T-A | c.1089A>T | p.K363N | Missense | 5/10 | - | 1 |
20-9546933-T-C | c.1089A>G | p.K363= | Synonymous | 5/10 | - | 1 |
20-9546933-T-G | c.1089A>C | p.K363N | Missense | 5/10 | - | 1 |
20-9546936-G-A | c.1086C>T | p.S362= | Synonymous | 5/10 | - | 1 |
20-9546937-C-T | c.1085G>A | p.S362N | Missense | 5/10 | - | 1 |
20-9546938-T-A | c.1084A>T | p.S362C | Missense | 5/10 | - | 1 |
20-9546941-G-A | c.1081C>T | p.Q361* | Nonsense | 5/10 | - | 1 |
20-9546947-G-C | c.1075C>G | p.Q359E | Missense | 5/10 | - | 2 |
20-9546947-G-T | c.1075C>A | p.Q359K | Missense | 5/10 | - | 1 |
20-9546949-G-A | c.1073C>T | p.P358L | Missense | 5/10 | - | 3 |
20-9546949-G-T | c.1073C>A | p.P358H | Missense | 5/10 | - | 1 |
20-9546951-T-C | c.1071A>G | p.L357= | Synonymous | 5/10 | - | 1 |
20-9546953-G-T | c.1069C>A | p.L357I | Missense | 5/10 | - | 7 |
20-9546954-T-A | c.1068A>T | p.K356N | Missense | 5/10 | - | 1 |
20-9546954-T-G | c.1068A>C | p.K356N | Missense | 5/10 | - | 1 |
20-9546958-G-A | c.1064C>T | p.A355V | Missense | 5/10 | - | 1 |
20-9546959-C-T | c.1063G>A | p.A355T | Missense | 5/10 | - | 2 |
20-9546962-G-T | c.1060C>A | p.P354T | Missense | 5/10 | - | 3 |
20-9546964-C-G | c.1058G>C | p.G353A | Missense | 5/10 | - | 2 |
20-9546965-C-A | c.1057G>T | p.G353C | Missense | 5/10 | - | 1 |
20-9546966-C-A | c.1056G>T | p.R352S | Missense | 5/10 | - | 2 |
20-9546966-CCT-ATG | c.1054_1056delinsCAT | p.R352H | Missense | 5/10 | - | 1 |
20-9546969-G-A | c.1053C>T | p.P351= | Synonymous | 5/10 | - | 1 |
20-9546969-G-C | c.1053C>G | p.P351= | Synonymous | 5/10 | - | 1 |
20-9546969-G-T | c.1053C>A | p.P351= | Synonymous | 5/10 | - | 1 |
20-9546970-G-A | c.1052C>T | p.P351L | Missense | 5/10 | - | 9 |
20-9546981-A-G | c.1041T>C | p.S347= | Synonymous | 5/10 | - | 1 |
20-9546982-G-T | c.1040C>A | p.S347Y | Missense | 5/10 | - | 1 |
20-9546983-A-G | c.1039T>C | p.S347P | Missense | 5/10 | - | 1 |
20-9546985-C-A | c.1037G>T | p.G346V | Missense | 5/10 | - | 1 |
20-9546985-C-T | c.1037G>A | p.G346E | Missense | 5/10 | - | 1 |
20-9546988-G-A | c.1034C>T | p.S345L | Missense | 5/10 | - | 1 |
20-9546993-T-A | c.1029A>T | p.P343= | Synonymous | 5/10 | - | 1 |
20-9546997-G-T | c.1025C>A | p.P342H | Missense | 5/10 | - | 2 |
20-9547000-C-T | c.1022G>A | p.S341N | Missense | 5/10 | - | 2 |
20-9547004-G-A | c.1018C>T | p.L340F | Missense | 5/10 | - | 1 |
20-9547005-G-A | c.1017C>T | p.V339= | Synonymous | 5/10 | - | 2 |
20-9547010-T-G | c.1012A>C | p.M338L | Missense | 5/10 | - | 1 |
20-9547011-C-T | c.1011G>A | p.Q337= | Synonymous | 5/10 | - | 3 |
20-9547012-T-C | c.1010A>G | p.Q337R | Missense | 5/10 | - | 1 |
20-9547014-T-G | c.1008A>C | p.A336= | Synonymous | 5/10 | - | 2 |
20-9547018-C-G | c.1004G>C | p.R335P | Missense | 5/10 | - | 25 |
20-9547018-C-T | c.1004G>A | p.R335Q | Missense | 5/10 | - | 9 |
20-9547017-T-A | c.1005A>T | p.R335= | Synonymous | 5/10 | - | 1 |
20-9547017-T-C | c.1005A>G | p.R335= | Synonymous | 5/10 | - | 1 |
20-9547017-T-G | c.1005A>C | p.R335= | Synonymous | 5/10 | - | 1 |
20-9547019-G-A | c.1003C>T | p.R335* | Nonsense | 5/10 | - | 13 |
20-9547019-G-T | c.1003C>A | p.R335= | Synonymous | 5/10 | - | 1 |
20-9547022-C-G | c.1000G>C | p.D334H | Missense | 5/10 | - | 2 |
20-9547022-C-T | c.1000G>A | p.D334N | Missense | 5/10 | - | 12 |
20-9547023-G-A | c.999C>T | p.Y333= | Synonymous | 5/10 | - | 4 |
20-9547025-A-G | c.997T>C | p.Y333H | Missense | 5/10 | - | 2 |
20-9547026-A-T | c.996T>A | p.D332E | Missense | 5/10 | - | 1 |
20-9547028-C-T | c.994G>A | p.D332N | Missense | 5/10 | - | 5 |
20-9547029-C-T | c.993G>A | p.V331= | Synonymous | 5/10 | - | 2 |
20-9548737-C-T | c.991-1706G>A | - | IntronicSNV | - | 4/9 | 2 |
20-9548769-C-T | c.991-1738G>A | - | IntronicSNV | - | 4/9 | 1 |
20-9554009-A-C | c.990+6783T>G | - | IntronicSNV | - | 4/9 | 1 |
20-9554017-A-G | c.990+6775T>C | - | IntronicSNV | - | 4/9 | 1 |
20-9554038-C-T | c.990+6754G>A | - | IntronicSNV | - | 4/9 | 1 |
20-9554125-T-C | c.990+6667A>G | - | IntronicSNV | - | 4/9 | 1 |
20-9554183-C-A | c.990+6609G>T | - | IntronicSNV | - | 4/9 | 1 |
20-9554237-A-C | c.990+6555T>G | - | IntronicSNV | - | 4/9 | 1 |
20-9555598-G-A | c.990+5194C>T | - | IntronicSNV | - | 4/9 | 1 |
20-9555781-A-C | c.990+5011T>G | - | IntronicSNV | - | 4/9 | 1 |
20-9555858-T-G | c.990+4934A>C | - | IntronicSNV | - | 4/9 | 1 |
20-9556159-G-A | c.990+4633C>T | - | IntronicSNV | - | 4/9 | 1 |
20-9556159-G-T | c.990+4633C>A | - | IntronicSNV | - | 4/9 | 1 |
20-9558508-T-G | c.990+2284A>C | - | IntronicSNV | - | 4/9 | 1 |
20-9560712-A-G | c.990+80T>C | - | IntronicSNV | - | 4/9 | 2 |
20-9560787-G-T | c.990+5C>A | - | IntronicSNV | - | 4/9 | 1 |
20-9560791-C-T | c.990+1G>A | - | IntronicSNV | - | 4/9 | 1 |
20-9560792-C-T | c.990G>A | p.K330= | Synonymous | 4/10 | - | 3 |
20-9560795-T-A | c.987A>T | p.P329= | Synonymous | 4/10 | - | 2 |
20-9560795-T-C | c.987A>G | p.P329= | Synonymous | 4/10 | - | 2 |
20-9560795-T-G | c.987A>C | p.P329= | Synonymous | 4/10 | - | 2 |
20-9560797-G-A | c.985C>T | p.P329S | Missense | 4/10 | - | 1 |
20-9560797-G-C | c.985C>G | p.P329A | Missense | 4/10 | - | 1 |
20-9560800-T-G | c.982A>C | p.I328L | Missense | 4/10 | - | 1 |
20-9560802-C-T | c.980G>A | p.C327Y | Missense | 4/10 | - | 3 |
20-9560805-A-G | c.977T>C | p.M326T | Missense | 4/10 | - | 2 |
20-9560805-A-T | c.977T>A | p.M326K | Missense | 4/10 | - | 1 |
20-9560806-T-C | c.976A>G | p.M326V | Missense | 4/10 | - | 2 |
20-9560808-G-A | c.974C>T | p.T325I | Missense | 4/10 | - | 1 |
20-9560811-G-C | c.971C>G | p.P324R | Missense | 4/10 | - | 1 |
20-9560813-C-A | c.969G>T | p.E323D | Missense | 4/10 | - | 1 |
20-9560814-T-C | c.968A>G | p.E323G | Missense | 4/10 | - | 3 |
20-9560815-C-T | c.967G>A | p.E323K | Missense | 4/10 | - | 6 |
20-9560816-G-A | c.966C>T | p.S322= | Synonymous | 4/10 | - | 4 |
20-9560816-G-C | c.966C>G | p.S322= | Synonymous | 4/10 | - | 1 |
20-9560818-A-G | c.964T>C | p.S322P | Missense | 4/10 | - | 2 |
20-9560821-A-C | c.961T>G | p.L321V | Missense | 4/10 | - | 2 |
20-9560822-G-A | c.960C>T | p.R320= | Synonymous | 4/10 | - | 1 |
20-9560822-G-C | c.960C>G | p.R320= | Synonymous | 4/10 | - | 1 |
20-9560822-GC-TT | c.959_960delinsAA | p.R320Q | Missense | 4/10 | - | 1 |
20-9560822-G-T | c.960C>A | p.R320= | Synonymous | 4/10 | - | 1 |
20-9560823-C-T | c.959G>A | p.R320H | Missense | 4/10 | - | 1 |
20-9560824-G-A | c.958C>T | p.R320C | Missense | 4/10 | - | 3 |
20-9560825-AGG-GTCGTC | c.955_957delinsGACGAC | p.P319delinsDD | MultiAAMissense | 4/10 | - | 1 |
20-9560826-G-A | c.956C>T | p.P319L | Missense | 4/10 | - | 1 |
20-9560827-G-A | c.955C>T | p.P319S | Missense | 4/10 | - | 1 |
20-9560827-G-T | c.955C>A | p.P319T | Missense | 4/10 | - | 2 |
20-9560828-G-C | c.954C>G | p.Y318* | Nonsense | 4/10 | - | 2 |
20-9560828-G-T | c.954C>A | p.Y318* | Nonsense | 4/10 | - | 3 |
20-9560829-T-A | c.953A>T | p.Y318F | Missense | 4/10 | - | 1 |
20-9560831-G-T | c.951C>A | p.T317= | Synonymous | 4/10 | - | 2 |
20-9560838-G-A | c.944C>T | p.S315F | Missense | 4/10 | - | 1 |
20-9560844-T-A | c.938A>T | p.Y313F | Missense | 4/10 | - | 2 |
20-9560844-T-C | c.938A>G | p.Y313C | Missense | 4/10 | - | 1 |
20-9560846-G-A | c.936C>T | p.S312= | Synonymous | 4/10 | - | 1 |
20-9560847-G-C | c.935C>G | p.S312C | Missense | 4/10 | - | 4 |
20-9560848-A-G | c.934T>C | p.S312P | Missense | 4/10 | - | 3 |
20-9560851-G-T | c.931C>A | p.H311N | Missense | 4/10 | - | 2 |
20-9560853-C-T | c.929G>A | p.G310E | Missense | 4/10 | - | 2 |
20-9560854-C-T | c.928G>A | p.G310R | Missense | 4/10 | - | 3 |
20-9560857-G-A | c.925C>T | p.Q309* | Nonsense | 4/10 | - | 1 |
20-9560859-G-A | c.923C>T | p.P308L | Missense | 4/10 | - | 2 |
20-9560860-G-A | c.922C>T | p.P308S | Missense | 4/10 | - | 4 |
20-9560864-G-A | c.918C>T | p.T306= | Synonymous | 4/10 | - | 2 |
20-9560864-G-C | c.918C>G | p.T306= | Synonymous | 4/10 | - | 2 |
20-9560864-G-T | c.918C>A | p.T306= | Synonymous | 4/10 | - | 2 |
20-9560871-A-C | c.911T>G | p.F304C | Missense | 4/10 | - | 1 |
20-9560876-A-C | c.906T>G | p.S302R | Missense | 4/10 | - | 1 |
20-9560876-A-T | c.906T>A | p.S302R | Missense | 4/10 | - | 1 |
20-9560878-T-G | c.904A>C | p.S302R | Missense | 4/10 | - | 1 |
20-9560881-C-T | c.901G>A | p.A301T | Missense | 4/10 | - | 1 |
20-9560882-TC-GT | c.899_900delinsAC | p.G300D | Missense | 4/10 | - | 1 |
20-9560883-C-T | c.899G>A | p.G300E | Missense | 4/10 | - | 2 |
20-9560885-A-G | c.897T>C | p.F299= | Synonymous | 4/10 | - | 1 |
20-9560890-G-A | c.892C>T | p.P298S | Missense | 4/10 | - | 6 |
20-9560895-A-G | c.887T>C | p.M296T | Missense | 4/10 | - | 1 |
20-9560897-C-A | c.885G>T | p.P295= | Synonymous | 4/10 | - | 1 |
20-9560897-C-G | c.885G>C | p.P295= | Synonymous | 4/10 | - | 1 |
20-9560897-C-T | c.885G>A | p.P295= | Synonymous | 4/10 | - | 2 |
20-9560898-G-A | c.884C>T | p.P295L | Missense | 4/10 | - | 3 |
20-9560902-C-A | c.880G>T | p.E294* | Nonsense | 4/10 | - | 1 |
20-9560902-C-T | c.880G>A | p.E294K | Missense | 4/10 | - | 11 |
20-9560903-C-T | c.879G>A | p.Q293= | Synonymous | 4/10 | - | 2 |
20-9560905-G-A | c.877C>T | p.Q293* | Nonsense | 4/10 | - | 3 |
20-9560906-G-C | c.876C>G | p.L292= | Synonymous | 4/10 | - | 2 |
20-9560906-G-T | c.876C>A | p.L292= | Synonymous | 4/10 | - | 1 |
20-9560908-G-C | c.874C>G | p.L292V | Missense | 4/10 | - | 1 |
20-9560910-C-A | c.872G>T | p.G291V | Missense | 4/10 | - | 1 |
20-9560910-C-T | c.872G>A | p.G291E | Missense | 4/10 | - | 2 |
20-9560911-C-G | c.871G>C | p.G291R | Missense | 4/10 | - | 2 |
20-9560911-C-T | c.871G>A | p.G291R | Missense | 4/10 | - | 6 |
20-9560912-C-A | c.870G>T | p.S290= | Synonymous | 4/10 | - | 2 |
20-9560912-C-G | c.870G>C | p.S290= | Synonymous | 4/10 | - | 1 |
20-9560912-C-T | c.870G>A | p.S290= | Synonymous | 4/10 | - | 1 |
20-9560913-G-A | c.869C>T | p.S290L | Missense | 4/10 | - | 1 |
20-9560913-G-C | c.869C>G | p.S290W | Missense | 4/10 | - | 1 |
20-9560919-G-A | c.863C>T | p.S288L | Missense | 4/10 | - | 2 |
20-9560920-A-C | c.862T>G | p.S288A | Missense | 4/10 | - | 1 |
20-9560921-C-A | c.861G>T | p.R287S | Missense | 4/10 | - | 1 |
20-9560921-C-G | c.861G>C | p.R287S | Missense | 4/10 | - | 1 |
20-9560924-G-A | c.858C>T | p.S286= | Synonymous | 4/10 | - | 1 |
20-9560926-A-C | c.856T>G | p.S286A | Missense | 4/10 | - | 1 |
20-9560928-C-A | c.854G>T | p.R285M | Missense | 4/10 | - | 4 |
20-9560930-C-T | c.852G>A | p.Q284= | Synonymous | 4/10 | - | 3 |
20-9560934-C-A | c.848G>T | p.R283L | Missense | 4/10 | - | 1 |
20-9560934-C-G | c.848G>C | p.R283P | Missense | 4/10 | - | 1 |
20-9560934-C-T | c.848G>A | p.R283Q | Missense | 4/10 | - | 1 |
20-9560935-G-C | c.847C>G | p.R283G | Missense | 4/10 | - | 1 |
20-9560939-G-A | c.843C>T | p.T281= | Synonymous | 4/10 | - | 1 |
20-9560939-G-C | c.843C>G | p.T281= | Synonymous | 4/10 | - | 1 |
20-9560939-G-T | c.843C>A | p.T281= | Synonymous | 4/10 | - | 1 |
20-9560940-G-C | c.842C>G | p.T281S | Missense | 4/10 | - | 1 |
20-9560941-T-A | c.841A>T | p.T281S | Missense | 4/10 | - | 1 |
20-9560942-G-A | c.840C>T | p.P280= | Synonymous | 4/10 | - | 2 |
20-9560942-G-C | c.840C>G | p.P280= | Synonymous | 4/10 | - | 1 |
20-9560942-G-T | c.840C>A | p.P280= | Synonymous | 4/10 | - | 1 |
20-9560943-G-T | c.839C>A | p.P280H | Missense | 4/10 | - | 1 |
20-9560944-G-A | c.838C>T | p.P280S | Missense | 4/10 | - | 2 |
20-9560944-G-C | c.838C>G | p.P280A | Missense | 4/10 | - | 1 |
20-9560947-G-A | c.835C>T | p.Q279* | Nonsense | 4/10 | - | 3 |
20-9560947-G-T | c.835C>A | p.Q279K | Missense | 4/10 | - | 1 |
20-9560949-G-T | c.833C>A | p.P278H | Missense | 4/10 | - | 1 |
20-9560958-T-G | c.824A>C | p.Q275P | Missense | 4/10 | - | 1 |
20-9560959-G-T | c.823C>A | p.Q275K | Missense | 4/10 | - | 1 |
20-9560961-T-C | c.821A>G | p.N274S | Missense | 4/10 | - | 1 |
20-9560963-C-A | c.819G>T | p.L273= | Synonymous | 4/10 | - | 1 |
20-9560965-G-A | c.817C>T | p.L273= | Synonymous | 4/10 | - | 1 |
20-9560965-G-T | c.817C>A | p.L273M | Missense | 4/10 | - | 2 |
20-9560970-G-A | c.812C>T | p.S271L | Missense | 4/10 | - | 6 |
20-9560976-T-A | c.806A>T | p.K269M | Missense | 4/10 | - | 3 |
20-9560980-G-A | c.802C>T | p.P268S | Missense | 4/10 | - | 2 |
20-9560981-C-A | c.801G>T | p.R267S | Missense | 4/10 | - | 1 |
20-9560983-T-C | c.799A>G | p.R267G | Missense | 4/10 | - | 1 |
20-9560984-C-A | c.798G>T | p.R266S | Missense | 4/10 | - | 3 |
20-9560984-C-G | c.798G>C | p.R266S | Missense | 4/10 | - | 2 |
20-9560985-C-A | c.797G>T | p.R266M | Missense | 4/10 | - | 1 |
20-9560986-T-A | c.796A>T | p.R266W | Missense | 4/10 | - | 5 |
20-9560987-G-C | c.795C>G | p.D265E | Missense | 4/10 | - | 3 |
20-9560987-G-T | c.795C>A | p.D265E | Missense | 4/10 | - | 1 |
20-9560989-C-A | c.793G>T | p.D265Y | Missense | 4/10 | - | 2 |
20-9560989-C-T | c.793G>A | p.D265N | Missense | 4/10 | - | 1 |
20-9560992-A-G | c.790T>C | p.Y264H | Missense | 4/10 | - | 1 |
20-9560994-T-A | c.788A>T | p.D263V | Missense | 4/10 | - | 1 |
20-9560997-T-C | c.785A>G | p.D262G | Missense | 4/10 | - | 1 |
20-9561000-A-T | c.782T>A | p.L261Q | Missense | 4/10 | - | 1 |
20-9561001-G-A | c.781C>T | p.L261= | Synonymous | 4/10 | - | 1 |
20-9561002-G-A | c.780C>T | p.S260= | Synonymous | 4/10 | - | 4 |
20-9561002-G-T | c.780C>A | p.S260R | Missense | 4/10 | - | 1 |
20-9561004-T-C | c.778A>G | p.S260G | Missense | 4/10 | - | 1 |
20-9561006-G-T | c.776C>A | p.P259H | Missense | 4/10 | - | 2 |
20-9561008-T-A | c.774A>T | p.G258= | Synonymous | 4/10 | - | 1 |
20-9561008-T-C | c.774A>G | p.G258= | Synonymous | 4/10 | - | 1 |
20-9561008-TCC-CCA | c.772_774delinsTGG | p.G258W | Missense | 4/10 | - | 1 |
20-9561008-T-G | c.774A>C | p.G258= | Synonymous | 4/10 | - | 1 |
20-9561009-C-A | c.773G>T | p.G258V | Missense | 4/10 | - | 4 |
20-9561010-C-T | c.772G>A | p.G258R | Missense | 4/10 | - | 2 |
20-9561012-C-A | c.770G>T | p.W257L | Missense | 4/10 | - | 1 |
20-9561012-C-G | c.770G>C | p.W257S | Missense | 4/10 | - | 2 |
20-9561014-T-A | c.768A>T | p.E256D | Missense | 4/10 | - | 1 |
20-9561014-T-C | c.768A>G | p.E256= | Synonymous | 4/10 | - | 1 |
20-9561018-C-G | c.764G>C | p.S255T | Missense | 4/10 | - | 1 |
20-9561022-C-G | c.760G>C | p.E254Q | Missense | 4/10 | - | 1 |
20-9561023-A-G | c.759T>C | p.S253= | Synonymous | 4/10 | - | 1 |
20-9561026-G-T | c.756C>A | p.Y252* | Nonsense | 4/10 | - | 1 |
20-9561027-T-C | c.755A>G | p.Y252C | Missense | 4/10 | - | 1 |
20-9561029-C-A | c.753G>T | p.A251= | Synonymous | 4/10 | - | 2 |
20-9561029-C-G | c.753G>C | p.A251= | Synonymous | 4/10 | - | 2 |
20-9561029-C-T | c.753G>A | p.A251= | Synonymous | 4/10 | - | 6 |
20-9561030-G-A | c.752C>T | p.A251V | Missense | 4/10 | - | 2 |
20-9561030-G-T | c.752C>A | p.A251E | Missense | 4/10 | - | 1 |
20-9561031-C-G | c.751G>C | p.A251P | Missense | 4/10 | - | 1 |
20-9561032-C-T | c.750G>A | p.L250= | Synonymous | 4/10 | - | 2 |
20-9561034-G-T | c.748C>A | p.L250M | Missense | 4/10 | - | 1 |
20-9561035-G-A | c.747C>T | p.S249= | Synonymous | 4/10 | - | 1 |
20-9561035-G-T | c.747C>A | p.S249R | Missense | 4/10 | - | 1 |
20-9561038-C-A | c.744G>T | p.E248D | Missense | 4/10 | - | 3 |
20-9561038-C-G | c.744G>C | p.E248D | Missense | 4/10 | - | 4 |
20-9561038-C-T | c.744G>A | p.E248= | Synonymous | 4/10 | - | 2 |
20-9561040-C-A | c.742G>T | p.E248* | Nonsense | 4/10 | - | 1 |
20-9561040-C-T | c.742G>A | p.E248K | Missense | 4/10 | - | 4 |
20-9561042-T-C | c.740A>G | p.K247R | Missense | 4/10 | - | 2 |
20-9561044-G-A | c.738C>T | p.S246= | Synonymous | 4/10 | - | 3 |
20-9561045-G-A | c.737C>T | p.S246F | Missense | 4/10 | - | 1 |
20-9561046-A-T | c.736T>A | p.S246T | Missense | 4/10 | - | 4 |
20-9561051-CC-TA | c.730_731delinsTA | p.G244* | Nonsense | 4/10 | - | 1 |
20-9561052-C-T | c.730G>A | p.G244R | Missense | 4/10 | - | 1 |
20-9561053-G-C | c.729C>G | p.S243R | Missense | 4/10 | - | 1 |
20-9561053-G-T | c.729C>A | p.S243R | Missense | 4/10 | - | 3 |
20-9561055-T-G | c.727A>C | p.S243R | Missense | 4/10 | - | 1 |
20-9561056-G-A | c.726C>T | p.T242= | Synonymous | 4/10 | - | 1 |
20-9561056-G-C | c.726C>G | p.T242= | Synonymous | 4/10 | - | 1 |
20-9561056-G-T | c.726C>A | p.T242= | Synonymous | 4/10 | - | 1 |
20-9561060-C-G | c.722G>C | p.G241A | Missense | 4/10 | - | 3 |
20-9561060-C-T | c.722G>A | p.G241E | Missense | 4/10 | - | 2 |
20-9561063-G-A | c.719C>T | p.A240V | Missense | 4/10 | - | 1 |
20-9561066-G-A | c.716C>T | p.T239I | Missense | 4/10 | - | 1 |
20-9561066-G-T | c.716C>A | p.T239N | Missense | 4/10 | - | 1 |
20-9561069-C-T | c.713G>A | p.R238K | Missense | 4/10 | - | 2 |
20-9561071-A-G | c.711T>C | p.S237= | Synonymous | 4/10 | - | 2 |
20-9561072-G-A | c.710C>T | p.S237F | Missense | 4/10 | - | 5 |
20-9561076-G-A | c.706C>T | p.P236S | Missense | 4/10 | - | 5 |
20-9561077-TG-CA | c.704_705inv | p.T235M | Missense | 4/10 | - | 1 |
20-9561078-G-A | c.704C>T | p.T235I | Missense | 4/10 | - | 1 |
20-9561079-T-C | c.703A>G | p.T235A | Missense | 4/10 | - | 1 |
20-9561080-G-A | c.702C>T | p.F234= | Synonymous | 4/10 | - | 1 |
20-9561085-G-A | c.697C>T | p.Q233* | Nonsense | 4/10 | - | 2 |
20-9561090-G-A | c.692C>T | p.S231L | Missense | 4/10 | - | 7 |
20-9561090-G-T | c.692C>A | p.S231* | Nonsense | 4/10 | - | 1 |
20-9561097-C-T | c.685G>A | p.D229N | Missense | 4/10 | - | 1 |
20-9561098-C-A | c.684G>T | p.L228= | Synonymous | 4/10 | - | 1 |
20-9561098-C-G | c.684G>C | p.L228= | Synonymous | 4/10 | - | 1 |
20-9561098-C-T | c.684G>A | p.L228= | Synonymous | 4/10 | - | 1 |
20-9561100-G-A | c.682C>T | p.L228= | Synonymous | 4/10 | - | 1 |
20-9561100-G-T | c.682C>A | p.L228M | Missense | 4/10 | - | 2 |
20-9561102-G-A | c.680C>T | p.P227L | Missense | 4/10 | - | 4 |
20-9561103-G-A | c.679C>T | p.P227S | Missense | 4/10 | - | 4 |
20-9561104-G-A | c.678C>T | p.S226= | Synonymous | 4/10 | - | 2 |
20-9561104-G-C | c.678C>G | p.S226= | Synonymous | 4/10 | - | 1 |
20-9561105-G-A | c.677C>T | p.S226F | Missense | 4/10 | - | 2 |
20-9561105-G-C | c.677C>G | p.S226C | Missense | 4/10 | - | 1 |
20-9561106-A-C | c.676T>G | p.S226A | Missense | 4/10 | - | 1 |
20-9561108-C-G | c.674G>C | p.S225T | Missense | 4/10 | - | 1 |
20-9561111-C-A | c.671G>T | p.S224I | Missense | 4/10 | - | 1 |
20-9561113-C-A | c.669G>T | p.S223= | Synonymous | 4/10 | - | 2 |
20-9561113-C-G | c.669G>C | p.S223= | Synonymous | 4/10 | - | 1 |
20-9561113-C-T | c.669G>A | p.S223= | Synonymous | 4/10 | - | 5 |
20-9561114-G-A | c.668C>T | p.S223L | Missense | 4/10 | - | 4 |
20-9561114-G-C | c.668C>G | p.S223W | Missense | 4/10 | - | 1 |
20-9561115-A-T | c.667T>A | p.S223T | Missense | 4/10 | - | 2 |
20-9561116-G-A | c.666C>T | p.A222= | Synonymous | 4/10 | - | 3 |
20-9561116-G-C | c.666C>G | p.A222= | Synonymous | 4/10 | - | 1 |
20-9561116-G-T | c.666C>A | p.A222= | Synonymous | 4/10 | - | 3 |
20-9561117-G-T | c.665C>A | p.A222D | Missense | 4/10 | - | 1 |
20-9561118-C-A | c.664G>T | p.A222S | Missense | 4/10 | - | 1 |
20-9561118-C-G | c.664G>C | p.A222P | Missense | 4/10 | - | 1 |
20-9561120-C-T | c.662G>A | p.R221K | Missense | 4/10 | - | 2 |
20-9561122-C-T | c.660G>A | p.Q220= | Synonymous | 4/10 | - | 1 |
20-9561124-G-A | c.658C>T | p.Q220* | Nonsense | 4/10 | - | 1 |
20-9561130-C-A | c.652G>T | p.E218* | Nonsense | 4/10 | - | 1 |
20-9561130-C-T | c.652G>A | p.E218K | Missense | 4/10 | - | 2 |
20-9561131-C-T | c.651G>A | p.W217* | Nonsense | 4/10 | - | 2 |
20-9561132-C-T | c.650G>A | p.W217* | Nonsense | 4/10 | - | 1 |
20-9561137-G-T | c.645C>A | p.L215= | Synonymous | 4/10 | - | 1 |
20-9561138-A-T | c.644T>A | p.L215H | Missense | 4/10 | - | 3 |
20-9561139-G-T | c.643C>A | p.L215I | Missense | 4/10 | - | 3 |
20-9561141-T-A | c.641A>T | p.D214V | Missense | 4/10 | - | 2 |
20-9561143-A-C | c.639T>G | p.S213R | Missense | 4/10 | - | 1 |
20-9561143-A-T | c.639T>A | p.S213R | Missense | 4/10 | - | 3 |
20-9561145-T-G | c.637A>C | p.S213R | Missense | 4/10 | - | 1 |
20-9561144-C-T | c.638G>A | p.S213N | Missense | 4/10 | - | 2 |
20-9561145-T-A | c.637A>T | p.S213C | Missense | 4/10 | - | 2 |
20-9561146-G-A | c.636C>T | p.Y212= | Synonymous | 4/10 | - | 1 |
20-9561146-G-C | c.636C>G | p.Y212* | Nonsense | 4/10 | - | 1 |
20-9561147-T-C | c.635A>G | p.Y212C | Missense | 4/10 | - | 2 |
20-9561148-A-G | c.634T>C | p.Y212H | Missense | 4/10 | - | 1 |
20-9561151-C-G | c.631G>C | p.E211Q | Missense | 4/10 | - | 1 |
20-9561151-C-T | c.631G>A | p.E211K | Missense | 4/10 | - | 4 |
20-9561153-C-A | c.629G>T | p.S210I | Missense | 4/10 | - | 1 |
20-9561153-C-T | c.629G>A | p.S210N | Missense | 4/10 | - | 2 |
20-9561153-C-CT | c.628dup | p.S210Kfs*2 | Frameshift | 4/10 | - | 1 |
20-9561156-G-A | c.626C>T | p.P209L | Missense | 4/10 | - | 1 |
20-9561156-G-T | c.626C>A | p.P209Q | Missense | 4/10 | - | 2 |
20-9561157-G-A | c.625C>T | p.P209S | Missense | 4/10 | - | 2 |
20-9561158-T-G | c.624A>C | p.K208N | Missense | 4/10 | - | 1 |
20-9561157-G-GT | c.624dup | p.P209Tfs*3 | Frameshift | 4/10 | - | 1 |
20-9561164-CAG-AAA | c.616_618delinsTTT | p.L206F | Missense | 4/10 | - | 2 |
20-9561166-G-T | c.616C>A | p.L206M | Missense | 4/10 | - | 1 |
20-9561167-T-A | c.615A>T | p.S205= | Synonymous | 4/10 | - | 1 |
20-9561171-T-C | c.611A>G | p.D204G | Missense | 4/10 | - | 1 |
20-9561172-C-G | c.610G>C | p.D204H | Missense | 4/10 | - | 1 |
20-9561172-C-T | c.610G>A | p.D204N | Missense | 4/10 | - | 1 |
20-9561175-A-C | c.607T>G | p.L203V | Missense | 4/10 | - | 2 |
20-9561182-G-C | c.600C>G | p.H200Q | Missense | 4/10 | - | 1 |
20-9561183-T-C | c.599A>G | p.H200R | Missense | 4/10 | - | 1 |
20-9561184-G-A | c.598C>T | p.H200Y | Missense | 4/10 | - | 2 |
20-9561186-T-A | c.596A>T | p.Y199F | Missense | 4/10 | - | 1 |
20-9561190-C-T | c.592G>A | p.D198N | Missense | 4/10 | - | 6 |
20-9561191-G-A | c.591C>T | p.A197= | Synonymous | 4/10 | - | 1 |
20-9561195-G-A | c.587C>T | p.S196F | Missense | 4/10 | - | 3 |
20-9561202-T-A | c.580A>T | p.R194* | Nonsense | 4/10 | - | 1 |
20-9561203-G-A | c.579C>T | p.A193= | Synonymous | 4/10 | - | 1 |
20-9561203-G-C | c.579C>G | p.A193= | Synonymous | 4/10 | - | 1 |
20-9561204-G-A | c.578C>T | p.A193V | Missense | 4/10 | - | 2 |
20-9561204-G-T | c.578C>A | p.A193D | Missense | 4/10 | - | 1 |
20-9561211-C-A | c.571G>T | p.D191Y | Missense | 4/10 | - | 1 |
20-9561211-C-T | c.571G>A | p.D191N | Missense | 4/10 | - | 5 |
20-9561212-G-A | c.570C>T | p.S190= | Synonymous | 4/10 | - | 7 |
20-9561212-G-C | c.570C>G | p.S190= | Synonymous | 4/10 | - | 1 |
20-9561212-G-T | c.570C>A | p.S190= | Synonymous | 4/10 | - | 1 |
20-9561213-G-A | c.569C>T | p.S190F | Missense | 4/10 | - | 4 |
20-9561213-G-T | c.569C>A | p.S190Y | Missense | 4/10 | - | 1 |
20-9561217-T-G | c.565A>C | p.K189Q | Missense | 4/10 | - | 1 |
20-9561218-C-T | c.564G>A | p.L188= | Synonymous | 4/10 | - | 5 |
20-9561220-A-G | c.562T>C | p.L188= | Synonymous | 4/10 | - | 1 |
20-9561223-G-A | c.559C>T | p.P187S | Missense | 4/10 | - | 1 |
20-9561223-G-C | c.559C>G | p.P187A | Missense | 4/10 | - | 3 |
20-9561223-G-T | c.559C>A | p.P187T | Missense | 4/10 | - | 1 |
20-9561224-C-A | c.558G>T | p.K186N | Missense | 4/10 | - | 1 |
20-9561224-C-G | c.558G>C | p.K186N | Missense | 4/10 | - | 1 |
20-9561225-T-C | c.557A>G | p.K186R | Missense | 4/10 | - | 1 |
20-9561228-AC-TA | c.553_554delinsTA | p.V185* | Nonsense | 4/10 | - | 1 |
20-9561228-A-G | c.554T>C | p.V185A | Missense | 4/10 | - | 2 |
20-9561230-C-T | c.552G>A | p.E184= | Synonymous | 4/10 | - | 2 |
20-9561232-C-T | c.550G>A | p.E184K | Missense | 4/10 | - | 5 |
20-9561234-G-A | c.548C>T | p.S183F | Missense | 4/10 | - | 2 |
20-9561234-G-C | c.548C>G | p.S183C | Missense | 4/10 | - | 4 |
20-9561236-A-G | c.546T>C | p.Y182= | Synonymous | 4/10 | - | 1 |
20-9561237-T-A | c.545A>T | p.Y182F | Missense | 4/10 | - | 1 |
20-9561237-T-C | c.545A>G | p.Y182C | Missense | 4/10 | - | 1 |
20-9561243-G-C | c.539C>G | p.A180G | Missense | 4/10 | - | 1 |
20-9561246-T-C | c.536A>G | p.E179G | Missense | 4/10 | - | 1 |
20-9561247-C-T | c.535G>A | p.E179K | Missense | 4/10 | - | 2 |
20-9561248-C-A | c.534G>T | p.G178= | Synonymous | 4/10 | - | 1 |
20-9561248-C-G | c.534G>C | p.G178= | Synonymous | 4/10 | - | 1 |
20-9561248-C-T | c.534G>A | p.G178= | Synonymous | 4/10 | - | 2 |
20-9561250-C-G | c.532G>C | p.G178R | Missense | 4/10 | - | 1 |
20-9561250-C-T | c.532G>A | p.G178R | Missense | 4/10 | - | 1 |
20-9561251-G-A | c.531C>T | p.H177= | Synonymous | 4/10 | - | 4 |
20-9561252-T-C | c.530A>G | p.H177R | Missense | 4/10 | - | 3 |
20-9561256-T-C | c.526A>G | p.K176E | Missense | 4/10 | - | 1 |
20-9561257-C-A | c.525G>T | p.M175I | Missense | 4/10 | - | 2 |
20-9561257-C-G | c.525G>C | p.M175I | Missense | 4/10 | - | 1 |
20-9561257-C-T | c.525G>A | p.M175I | Missense | 4/10 | - | 2 |
20-9561263-C-A | c.519G>T | p.M173I | Missense | 4/10 | - | 9 |
20-9561263-C-G | c.519G>C | p.M173I | Missense | 4/10 | - | 9 |
20-9561263-C-T | c.519G>A | p.M173I | Missense | 4/10 | - | 20 |
20-9561268-C-A | c.514G>T | p.V172L | Missense | 4/10 | - | 2 |
20-9561268-C-G | c.514G>C | p.V172L | Missense | 4/10 | - | 2 |
20-9561268-C-T | c.514G>A | p.V172I | Missense | 4/10 | - | 5 |
20-9561269-G-A | c.513C>T | p.H171= | Synonymous | 4/10 | - | 2 |
20-9561271-G-A | c.511C>T | p.H171Y | Missense | 4/10 | - | 1 |
20-9561273-C-A | c.509G>T | p.G170V | Missense | 4/10 | - | 2 |
20-9561274-C-T | c.508G>A | p.G170R | Missense | 4/10 | - | 1 |
20-9561276-TT-AC | c.505_506delinsGT | p.N169V | Missense | 4/10 | - | 1 |
20-9561279-T-A | c.503A>T | p.Q168L | Missense | 4/10 | - | 2 |
20-9561279-T-C | c.503A>G | p.Q168R | Missense | 4/10 | - | 1 |
20-9561285-G-A | c.497C>T | p.A166V | Missense | 4/10 | - | 1 |
20-9561286-C-A | c.496G>T | p.A166S | Missense | 4/10 | - | 1 |
20-9561288-G-A | c.494C>T | p.A165V | Missense | 4/10 | - | 1 |
20-9561290-G-A | c.492C>T | p.H164= | Synonymous | 4/10 | - | 1 |
20-9561292-G-A | c.490C>T | p.H164Y | Missense | 4/10 | - | 1 |
20-9561293-G-C | c.489C>G | p.S163R | Missense | 4/10 | - | 2 |
20-9561296-G-A | c.486C>T | p.G162= | Synonymous | 4/10 | - | 1 |
20-9561296-G-C | c.486C>G | p.G162= | Synonymous | 4/10 | - | 1 |
20-9561296-G-T | c.486C>A | p.G162= | Synonymous | 4/10 | - | 3 |
20-9561305-A-G | c.477T>C | p.Y159= | Synonymous | 4/10 | - | 1 |
20-9561309-G-A | c.473C>T | p.P158L | Missense | 4/10 | - | 3 |
20-9561309-G-T | c.473C>A | p.P158Q | Missense | 4/10 | - | 1 |
20-9561310-G-A | c.472C>T | p.P158S | Missense | 4/10 | - | 5 |
20-9561310-G-T | c.472C>A | p.P158T | Missense | 4/10 | - | 2 |
20-9561313-C-A | c.469G>T | p.D157Y | Missense | 4/10 | - | 1 |
20-9561313-C-T | c.469G>A | p.D157N | Missense | 4/10 | - | 1 |
20-9561315-A-C | c.467T>G | p.L156R | Missense | 4/10 | - | 2 |
20-9561315-A-G | c.467T>C | p.L156P | Missense | 4/10 | - | 1 |
20-9561316-G-A | c.466C>T | p.L156= | Synonymous | 4/10 | - | 1 |
20-9561316-G-T | c.466C>A | p.L156M | Missense | 4/10 | - | 1 |
20-9561319-C-A | c.463G>T | p.D155Y | Missense | 4/10 | - | 1 |
20-9561321-T-C | c.461A>G | p.D154G | Missense | 4/10 | - | 1 |
20-9561322-C-T | c.460G>A | p.D154N | Missense | 4/10 | - | 6 |
20-9561323-TCC-ACA | c.457_459delinsTGT | p.G153C | Missense | 4/10 | - | 1 |
20-9561324-C-A | c.458G>T | p.G153V | Missense | 4/10 | - | 2 |
20-9561324-C-T | c.458G>A | p.G153E | Missense | 4/10 | - | 3 |
20-9561327-T-A | c.455A>T | p.Y152F | Missense | 4/10 | - | 2 |
20-9561329-G-T | c.453C>A | p.L151= | Synonymous | 4/10 | - | 2 |
20-9561331-G-A | c.451C>T | p.L151F | Missense | 4/10 | - | 2 |
20-9561333-C-T | c.449G>A | p.S150N | Missense | 4/10 | - | 1 |
20-9561333-CT-GC | c.448_449delinsGC | p.S150A | Missense | 4/10 | - | 1 |
20-9561335-C-A | c.447G>T | p.K149N | Missense | 4/10 | - | 2 |
20-9561335-C-G | c.447G>C | p.K149N | Missense | 4/10 | - | 1 |
20-9561340-C-T | c.442G>A | p.E148K | Missense | 4/10 | - | 7 |
20-9561341-C-A | c.441G>T | p.R147S | Missense | 4/10 | - | 1 |
20-9561341-C-G | c.441G>C | p.R147S | Missense | 4/10 | - | 1 |
20-9561341-C-T | c.441G>A | p.R147= | Synonymous | 4/10 | - | 4 |
20-9561342-C-A | c.440G>T | p.R147M | Missense | 4/10 | - | 1 |
20-9561344-G-C | c.438C>G | p.Y146* | Nonsense | 4/10 | - | 2 |
20-9561345-T-C | c.437A>G | p.Y146C | Missense | 4/10 | - | 1 |
20-9561349-T-A | c.433A>T | p.K145* | Nonsense | 4/10 | - | 3 |
20-9561352-C-T | c.430G>A | p.E144K | Missense | 4/10 | - | 18 |
20-9561354-G-A | c.428C>T | p.T143I | Missense | 4/10 | - | 1 |
20-9561354-G-T | c.428C>A | p.T143N | Missense | 4/10 | - | 2 |
20-9561355-T-G | c.427A>C | p.T143P | Missense | 4/10 | - | 1 |
20-9561356-C-A | c.426G>T | p.T142= | Synonymous | 4/10 | - | 1 |
20-9561356-C-G | c.426G>C | p.T142= | Synonymous | 4/10 | - | 1 |
20-9561356-C-T | c.426G>A | p.T142= | Synonymous | 4/10 | - | 1 |
20-9561357-G-A | c.425C>T | p.T142M | Missense | 4/10 | - | 4 |
20-9561360-T-C | c.422A>G | p.Y141C | Missense | 4/10 | - | 3 |
20-9561361-A-T | c.421T>A | p.Y141N | Missense | 4/10 | - | 1 |
20-9561366-G-T | c.416C>A | p.A139D | Missense | 4/10 | - | 1 |
20-9561367-C-A | c.415G>T | p.A139S | Missense | 4/10 | - | 2 |
20-9561371-A-C | c.411T>G | p.T137= | Synonymous | 4/10 | - | 1 |
20-9561371-A-G | c.411T>C | p.T137= | Synonymous | 4/10 | - | 1 |
20-9561371-A-T | c.411T>A | p.T137= | Synonymous | 4/10 | - | 1 |
20-9561374-A-C | c.408T>G | p.D136E | Missense | 4/10 | - | 1 |
20-9561374-A-G | c.408T>C | p.D136= | Synonymous | 4/10 | - | 1 |
20-9561374-A-T | c.408T>A | p.D136E | Missense | 4/10 | - | 1 |
20-9561376-C-T | c.406G>A | p.D136N | Missense | 4/10 | - | 3 |
20-9561377-G-A | c.405C>T | p.S135= | Synonymous | 4/10 | - | 1 |
20-9561377-G-C | c.405C>G | p.S135= | Synonymous | 4/10 | - | 1 |
20-9561378-GA-TC | c.403_404inv | p.S135D | Missense | 4/10 | - | 1 |
20-9561379-A-C | c.403T>G | p.S135A | Missense | 4/10 | - | 1 |
20-9561382-C-T | c.400G>A | p.E134K | Missense | 4/10 | - | 3 |
20-9561383-G-C | c.399C>G | p.S133R | Missense | 4/10 | - | 3 |
20-9561383-G-T | c.399C>A | p.S133R | Missense | 4/10 | - | 2 |
20-9561384-C-T | c.398G>A | p.S133N | Missense | 4/10 | - | 3 |
20-9561387-G-A | c.395C>T | p.S132F | Missense | 4/10 | - | 1 |
20-9561387-G-T | c.395C>A | p.S132Y | Missense | 4/10 | - | 1 |
20-9561388-A-G | c.394T>C | p.S132P | Missense | 4/10 | - | 1 |
20-9561392-C-T | c.390G>A | p.Q130= | Synonymous | 4/10 | - | 2 |
20-9561394-G-A | c.388C>T | p.Q130* | Nonsense | 4/10 | - | 1 |
20-9561395-G-A | c.387C>T | p.S129= | Synonymous | 4/10 | - | 2 |
20-9561397-A-G | c.385T>C | p.S129P | Missense | 4/10 | - | 1 |
20-9561404-G-C | c.378C>G | p.I126M | Missense | 4/10 | - | 1 |
20-9561406-T-C | c.376A>G | p.I126V | Missense | 4/10 | - | 1 |
20-9561410-G-A | c.372C>T | p.G124= | Synonymous | 4/10 | - | 1 |
20-9561410-G-C | c.372C>G | p.G124= | Synonymous | 4/10 | - | 1 |
20-9561410-G-T | c.372C>A | p.G124= | Synonymous | 4/10 | - | 1 |
20-9561418-C-A | c.364G>T | p.E122* | Nonsense | 4/10 | - | 1 |
20-9561419-T-A | c.363A>T | p.E121D | Missense | 4/10 | - | 1 |
20-9561419-T-G | c.363A>C | p.E121D | Missense | 4/10 | - | 1 |
20-9561422-C-A | c.360G>T | p.A120= | Synonymous | 4/10 | - | 2 |
20-9561422-C-G | c.360G>C | p.A120= | Synonymous | 4/10 | - | 2 |
20-9561422-C-T | c.360G>A | p.A120= | Synonymous | 4/10 | - | 3 |
20-9561423-G-A | c.359C>T | p.A120V | Missense | 4/10 | - | 7 |
20-9561424-C-T | c.358G>A | p.A120T | Missense | 4/10 | - | 6 |
20-9561425-G-A | c.357C>T | p.H119= | Synonymous | 4/10 | - | 3 |
20-9561425-G-T | c.357C>A | p.H119Q | Missense | 4/10 | - | 2 |
20-9561428-G-A | c.354C>T | p.G118= | Synonymous | 4/10 | - | 1 |
20-9561429-C-T | c.353G>A | p.G118D | Missense | 4/10 | - | 5 |
20-9561433-G-A | c.349C>T | p.P117S | Missense | 4/10 | - | 1 |
20-9561435-C-T | c.347G>A | p.G116D | Missense | 4/10 | - | 2 |
20-9561434-AC-A | c.347del | p.G116Vfs*57 | Frameshift | 4/10 | - | 1 |
20-9561436-C-A | c.346G>T | p.G116C | Missense | 4/10 | - | 2 |
20-9561436-C-T | c.346G>A | p.G116S | Missense | 4/10 | - | 1 |
20-9561437-G-A | c.345C>T | p.H115= | Synonymous | 4/10 | - | 5 |
20-9561440-G-A | c.342C>T | p.S114= | Synonymous | 4/10 | - | 2 |
20-9561441-C-T | c.341G>A | p.S114N | Missense | 4/10 | - | 2 |
20-9561444-G-A | c.338C>T | p.S113F | Missense | 4/10 | - | 1 |
20-9561446-G-A | c.336C>T | p.A112= | Synonymous | 4/10 | - | 1 |
20-9561446-G-T | c.336C>A | p.A112= | Synonymous | 4/10 | - | 1 |
20-9561448-C-A | c.334G>T | p.A112S | Missense | 4/10 | - | 3 |
20-9561451-C-T | c.331G>A | p.G111R | Missense | 4/10 | - | 1 |
20-9561452-C-T | c.330G>A | p.Q110= | Synonymous | 4/10 | - | 1 |
20-9561454-G-A | c.328C>T | p.Q110* | Nonsense | 4/10 | - | 3 |
20-9561457-C-G | c.325G>C | p.D109H | Missense | 4/10 | - | 1 |
20-9561457-C-T | c.325G>A | p.D109N | Missense | 4/10 | - | 4 |
20-9561460-G-C | c.322C>G | p.P108A | Missense | 4/10 | - | 2 |
20-9561462-G-A | c.320C>T | p.T107I | Missense | 4/10 | - | 1 |
20-9561464-G-T | c.318C>A | p.P106= | Synonymous | 4/10 | - | 2 |
20-9561465-G-A | c.317C>T | p.P106L | Missense | 4/10 | - | 3 |
20-9561466-G-A | c.316C>T | p.P106S | Missense | 4/10 | - | 1 |
20-9561467-T-A | c.315A>T | p.P105= | Synonymous | 4/10 | - | 1 |
20-9561467-T-C | c.315A>G | p.P105= | Synonymous | 4/10 | - | 1 |
20-9561467-T-G | c.315A>C | p.P105= | Synonymous | 4/10 | - | 1 |
20-9561469-G-A | c.313C>T | p.P105S | Missense | 4/10 | - | 3 |
20-9561469-G-C | c.313C>G | p.P105A | Missense | 4/10 | - | 1 |
20-9561469-G-T | c.313C>A | p.P105T | Missense | 4/10 | - | 1 |
20-9561471-C-T | c.311G>A | p.S104N | Missense | 4/10 | - | 2 |
20-9561475-C-G | c.307G>C | p.E103Q | Missense | 4/10 | - | 1 |
20-9561478-T-C | c.304A>G | p.K102E | Missense | 4/10 | - | 2 |
20-9561479-CCT-ACA | c.301_303delinsTGT | p.R101C | Missense | 4/10 | - | 1 |
20-9561479-C-T | c.303G>A | p.R101= | Synonymous | 4/10 | - | 4 |
20-9561481-T-G | c.301A>C | p.R101= | Synonymous | 4/10 | - | 1 |
20-9561481-T-A | c.301A>T | p.R101W | Missense | 4/10 | - | 1 |
20-9561483-A-G | c.299T>C | p.L100P | Missense | 4/10 | - | 1 |
20-9561484-G-T | c.298C>A | p.L100I | Missense | 4/10 | - | 2 |
20-9561485-G-A | c.297C>T | p.S99= | Synonymous | 4/10 | - | 1 |
20-9561485-G-C | c.297C>G | p.S99= | Synonymous | 4/10 | - | 2 |
20-9561485-G-T | c.297C>A | p.S99= | Synonymous | 4/10 | - | 1 |
20-9561486-G-A | c.296C>T | p.S99F | Missense | 4/10 | - | 7 |
20-9561487-A-C | c.295T>G | p.S99A | Missense | 4/10 | - | 1 |
20-9561490-T-C | c.292A>G | p.N98D | Missense | 4/10 | - | 1 |
20-9561492-G-A | c.290C>T | p.S97F | Missense | 4/10 | - | 1 |
20-9561492-G-T | c.290C>A | p.S97Y | Missense | 4/10 | - | 1 |
20-9561495-C-A | c.287G>T | p.R96L | Missense | 4/10 | - | 2 |
20-9561495-C-T | c.287G>A | p.R96H | Missense | 4/10 | - | 4 |
20-9561496-G-A | c.286C>T | p.R96C | Missense | 4/10 | - | 1 |
20-9561502-C-T | c.280G>A | p.V94M | Missense | 4/10 | - | 5 |
20-9561506-G-A | c.276C>T | p.I92= | Synonymous | 4/10 | - | 1 |
20-9561506-G-T | c.276C>A | p.I92= | Synonymous | 4/10 | - | 1 |
20-9561507-A-T | c.275T>A | p.I92N | Missense | 4/10 | - | 1 |
20-9561510-T-C | c.272A>G | p.N91S | Missense | 4/10 | - | 1 |
20-9561517-A-T | c.265T>A | p.F89I | Missense | 4/10 | - | 1 |
20-9561519-T-G | c.263A>C | p.D88A | Missense | 4/10 | - | 1 |
20-9561520-C-T | c.262G>A | p.D88N | Missense | 4/10 | - | 9 |
20-9561521-C-T | c.261G>A | p.E87= | Synonymous | 4/10 | - | 2 |
20-9561522-T-A | c.260A>T | p.E87V | Missense | 4/10 | - | 1 |
20-9561523-C-G | c.259G>C | p.E87Q | Missense | 4/10 | - | 3 |
20-9561525-A-G | c.257T>C | p.L86P | Missense | 4/10 | - | 2 |
20-9561531-C-T | c.251G>A | p.G84D | Missense | 4/10 | - | 2 |
20-9561532-C-A | c.250G>T | p.G84C | Missense | 4/10 | - | 5 |
20-9561532-C-T | c.250G>A | p.G84S | Missense | 4/10 | - | 4 |
20-9561536-G-A | c.246C>T | p.I82= | Synonymous | 4/10 | - | 2 |
20-9561536-G-T | c.246C>A | p.I82= | Synonymous | 4/10 | - | 1 |
20-9561540-G-A | c.242C>T | p.S81F | Missense | 4/10 | - | 2 |
20-9561540-G-C | c.242C>G | p.S81C | Missense | 4/10 | - | 1 |
20-9561541-A-G | c.241T>C | p.S81P | Missense | 4/10 | - | 1 |
20-9561543-G-A | c.239C>T | p.T80I | Missense | 4/10 | - | 1 |
20-9561547-C-T | c.235G>A | p.E79K | Missense | 4/10 | - | 3 |
20-9561548-C-A | c.234G>T | p.K78N | Missense | 4/10 | - | 1 |
20-9561548-C-G | c.234G>C | p.K78N | Missense | 4/10 | - | 1 |
20-9561550-T-A | c.232A>T | p.K78* | Nonsense | 4/10 | - | 1 |
20-9561552-C-A | c.230G>T | p.C77F | Missense | 4/10 | - | 1 |
20-9561552-C-G | c.230G>C | p.C77S | Missense | 4/10 | - | 1 |
20-9561554-G-A | c.228C>T | p.P76= | Synonymous | 4/10 | - | 3 |
20-9561554-G-C | c.228C>G | p.P76= | Synonymous | 4/10 | - | 2 |
20-9561554-G-T | c.228C>A | p.P76= | Synonymous | 4/10 | - | 2 |
20-9561555-G-C | c.227C>G | p.P76R | Missense | 4/10 | - | 1 |
20-9561556-G-A | c.226C>T | p.P76S | Missense | 4/10 | - | 1 |
20-9561556-G-T | c.226C>A | p.P76T | Missense | 4/10 | - | 2 |
20-9561557-T-A | c.225A>T | p.K75N | Missense | 4/10 | - | 1 |
20-9561557-T-G | c.225A>C | p.K75N | Missense | 4/10 | - | 1 |
20-9561561-T-A | c.221A>T | p.N74I | Missense | 4/10 | - | 1 |
20-9561564-C-T | c.218G>A | p.G73E | Missense | 4/10 | - | 5 |
20-9561565-C-G | c.217G>C | p.G73R | Missense | 4/10 | - | 1 |
20-9561565-C-T | c.217G>A | p.G73R | Missense | 4/10 | - | 2 |
20-9561566-TCT-ACA | c.214_216delinsTGT | p.R72C | Missense | 4/10 | - | 1 |
20-9561572-G-A | c.210C>T | p.I70= | Synonymous | 4/10 | - | 4 |
20-9561572-G-T | c.210C>A | p.I70= | Synonymous | 4/10 | - | 1 |
20-9561573-A-G | c.209T>C | p.I70T | Missense | 4/10 | - | 1 |
20-9561576-G-T | c.206C>A | p.T69K | Missense | 4/10 | - | 1 |
20-9561643-C-A | c.205-66G>T | - | IntronicSNV | - | 3/9 | 2 |
20-9561643-C-T | c.205-66G>A | - | IntronicSNV | - | 3/9 | 2 |
20-9575775-G-C | c.205-14198C>G | - | IntronicSNV | - | 3/9 | 1 |
20-9575775-G-T | c.205-14198C>A | - | IntronicSNV | - | 3/9 | 1 |
20-9589577-T-C | c.205-28000A>G | - | IntronicSNV | - | 3/9 | 1 |
20-9589577-T-G | c.205-28000A>C | - | IntronicSNV | - | 3/9 | 1 |
20-9592266-T-C | c.205-30689A>G | - | IntronicSNV | - | 3/9 | 1 |
20-9592598-T-C | c.205-31021A>G | - | IntronicSNV | - | 3/9 | 1 |
20-9592660-C-T | c.205-31083G>A | - | IntronicSNV | - | 3/9 | 1 |
20-9593543-TC-T | c.204+31229del | - | IntronicDeletion | - | 3/9 | 1 |
20-9596390-G-A | c.204+28383C>T | - | IntronicSNV | - | 3/9 | 1 |
20-9596390-G-T | c.204+28383C>A | - | IntronicSNV | - | 3/9 | 1 |
20-9599596-T-A | c.204+25177A>T | - | IntronicSNV | - | 3/9 | 1 |
20-9607882-G-T | c.204+16891C>A | - | IntronicSNV | - | 3/9 | 1 |
20-9609603-T-A | c.204+15170A>T | - | IntronicSNV | - | 3/9 | 1 |
20-9609603-T-C | c.204+15170A>G | - | IntronicSNV | - | 3/9 | 1 |
20-9610126-T-C | c.204+14647A>G | - | IntronicSNV | - | 3/9 | 1 |
20-9612433-TCTTAGGCAGC-T | c.204+12330_204+12339del | - | IntronicDeletion | - | 3/9 | 1 |
20-9614177-T-TAAAAAAA | c.-162+10959_-162+10960insTTTTTTT | - | IntronicInsertion | - | 1/9 | 1 |
20-9618266-GA-G | c.204+6506del | - | IntronicDeletion | - | 3/9 | 1 |
20-9619475-A-G | c.204+5298T>C | - | IntronicSNV | - | 3/9 | 1 |
20-9621864-C-T | c.204+2909G>A | - | IntronicSNV | - | 3/9 | 1 |
20-9622396-A-G | c.204+2377T>C | - | IntronicSNV | - | 3/9 | 1 |
20-9622478-A-G | c.204+2295T>C | - | IntronicSNV | - | 3/9 | 1 |
20-9622561-G-A | c.204+2212C>T | - | IntronicSNV | - | 3/9 | 1 |
20-9624580-A-AACGC | c.-162+556_-162+557insTGCG | - | IntronicInsertion | - | 1/9 | 2 |
20-9624580-A-AACGCAC | c.-162+556_-162+557insTGTGCG | - | IntronicInsertion | - | 1/9 | 2 |
20-9624587-C-T | c.204+186G>A | - | IntronicSNV | - | 3/9 | 1 |
20-9624776-C-A | c.201G>T | p.M67I | Missense | 3/10 | - | 3 |
20-9624776-C-G | c.201G>C | p.M67I | Missense | 3/10 | - | 3 |
20-9624776-C-T | c.201G>A | p.M67I | Missense | 3/10 | - | 5 |
20-9624780-G-A | c.197C>T | p.P66L | Missense | 3/10 | - | 2 |
20-9624781-G-A | c.196C>T | p.P66S | Missense | 3/10 | - | 1 |
20-9624785-C-A | c.192G>T | p.L64= | Synonymous | 3/10 | - | 1 |
20-9624785-C-G | c.192G>C | p.L64= | Synonymous | 3/10 | - | 1 |
20-9624785-C-T | c.192G>A | p.L64= | Synonymous | 3/10 | - | 1 |
20-9624787-G-A | c.190C>T | p.L64= | Synonymous | 3/10 | - | 1 |
20-9624789-T-A | c.188A>T | p.Q63L | Missense | 3/10 | - | 1 |
20-9624791-G-A | c.186C>T | p.I62= | Synonymous | 3/10 | - | 3 |
20-9624794-G-A | c.183C>T | p.P61= | Synonymous | 3/10 | - | 1 |
20-9624794-G-C | c.183C>G | p.P61= | Synonymous | 3/10 | - | 1 |
20-9624794-G-T | c.183C>A | p.P61= | Synonymous | 3/10 | - | 1 |
20-9624797-T-G | c.180A>C | p.T60= | Synonymous | 3/10 | - | 3 |
20-9624797-TG-CA | c.179_180inv | p.T60M | Missense | 3/10 | - | 1 |
20-9624798-G-A | c.179C>T | p.T60I | Missense | 3/10 | - | 1 |
20-9624799-T-C | c.178A>G | p.T60A | Missense | 3/10 | - | 1 |
20-9624801-A-G | c.176T>C | p.I59T | Missense | 3/10 | - | 1 |
20-9624804-C-A | c.173G>T | p.C58F | Missense | 3/10 | - | 1 |
20-9624806-TG-AA | c.170_171delinsTT | p.S57F | Missense | 3/10 | - | 1 |
20-9624807-G-A | c.170C>T | p.S57L | Missense | 3/10 | - | 1 |
20-9624808-A-G | c.169T>C | p.S57P | Missense | 3/10 | - | 1 |
20-9624810-G-T | c.167C>A | p.P56H | Missense | 3/10 | - | 1 |
20-9624813-T-A | c.164A>T | p.D55V | Missense | 3/10 | - | 2 |
20-9624815-C-T | c.162G>A | p.V54= | Synonymous | 3/10 | - | 2 |
20-9624817-C-T | c.160G>A | p.V54M | Missense | 3/10 | - | 1 |
20-9624818-C-A | c.159G>T | p.M53I | Missense | 3/10 | - | 3 |
20-9624818-C-G | c.159G>C | p.M53I | Missense | 3/10 | - | 3 |
20-9624818-C-T | c.159G>A | p.M53I | Missense | 3/10 | - | 3 |
20-9624822-G-T | c.155C>A | p.P52H | Missense | 3/10 | - | 1 |
20-9624824-C-A | c.153G>T | p.K51N | Missense | 3/10 | - | 2 |
20-9624824-C-G | c.153G>C | p.K51N | Missense | 3/10 | - | 1 |
20-9624828-G-A | c.149C>T | p.P50L | Missense | 3/10 | - | 2 |
20-9624829-G-A | c.148C>T | p.P50S | Missense | 3/10 | - | 1 |
20-9624830-CCT-ATG | c.145_147delinsCAT | p.R49H | Missense | 3/10 | - | 1 |
20-9624831-C-T | c.146G>A | p.R49K | Missense | 3/10 | - | 1 |
20-9624833-G-C | c.144C>G | p.N48K | Missense | 3/10 | - | 1 |
20-9624833-G-T | c.144C>A | p.N48K | Missense | 3/10 | - | 1 |
20-9624836-G-A | c.141C>T | p.A47= | Synonymous | 3/10 | - | 2 |
20-9624836-G-C | c.141C>G | p.A47= | Synonymous | 3/10 | - | 1 |
20-9624836-G-T | c.141C>A | p.A47= | Synonymous | 3/10 | - | 1 |
20-9624837-GC-CG | c.139_140delinsCG | p.A47R | Missense | 3/10 | - | 1 |
20-9624839-C-A | c.138G>T | p.T46= | Synonymous | 3/10 | - | 1 |
20-9624839-C-G | c.138G>C | p.T46= | Synonymous | 3/10 | - | 1 |
20-9624839-C-T | c.138G>A | p.T46= | Synonymous | 3/10 | - | 1 |
20-9624840-G-A | c.137C>T | p.T46M | Missense | 3/10 | - | 4 |
20-9624844-C-T | c.133G>A | p.D45N | Missense | 3/10 | - | 6 |
20-9624845-T-A | c.132A>T | p.A44= | Synonymous | 3/10 | - | 4 |
20-9624845-T-C | c.132A>G | p.A44= | Synonymous | 3/10 | - | 2 |
20-9624845-T-G | c.132A>C | p.A44= | Synonymous | 3/10 | - | 2 |
20-9624847-C-T | c.130G>A | p.A44T | Missense | 3/10 | - | 2 |
20-9624852-A-T | c.125T>A | p.L42Q | Missense | 3/10 | - | 1 |
20-9624854-G-C | c.123C>G | p.S41R | Missense | 3/10 | - | 2 |
20-9624854-G-T | c.123C>A | p.S41R | Missense | 3/10 | - | 5 |
20-9624856-T-G | c.121A>C | p.S41R | Missense | 3/10 | - | 2 |
20-9624858-T-C | c.119A>G | p.H40R | Missense | 3/10 | - | 1 |
20-9624859-G-T | c.118C>A | p.H40N | Missense | 3/10 | - | 1 |
20-9624860-C-A | c.117G>T | p.W39C | Missense | 3/10 | - | 1 |
20-9624861-C-A | c.116G>T | p.W39L | Missense | 3/10 | - | 2 |
20-9624866-C-A | c.111G>T | p.Q37H | Missense | 3/10 | - | 1 |
20-9624866-C-G | c.111G>C | p.Q37H | Missense | 3/10 | - | 1 |
20-9624866-C-T | c.111G>A | p.Q37= | Synonymous | 3/10 | - | 1 |
20-9624868-G-T | c.109C>A | p.Q37K | Missense | 3/10 | - | 1 |
20-9624869-G-A | c.108C>T | p.P36= | Synonymous | 3/10 | - | 3 |
20-9624871-G-A | c.106C>T | p.P36S | Missense | 3/10 | - | 1 |
20-9624876-C-T | c.101G>A | p.G34D | Missense | 3/10 | - | 5 |
20-9624877-C-T | c.100G>A | p.G34S | Missense | 3/10 | - | 2 |
20-9624879-G-A | c.98C>T | p.T33I | Missense | 3/10 | - | 1 |
20-9624881-A-G | c.96T>C | p.F32= | Synonymous | 3/10 | - | 1 |
20-9624882-A-C | c.95T>G | p.F32C | Missense | 3/10 | - | 1 |
20-9624884-C-A | c.93G>T | p.K31N | Missense | 3/10 | - | 1 |
20-9624884-C-G | c.93G>C | p.K31N | Missense | 3/10 | - | 1 |
20-9624885-T-G | c.92A>C | p.K31T | Missense | 3/10 | - | 2 |
20-9624887-C-T | c.90G>A | p.Q30= | Synonymous | 3/10 | - | 1 |
20-9624890-C-T | c.87G>A | p.E29= | Synonymous | 3/10 | - | 2 |
20-9624897-G-A | c.80C>T | p.P27L | Missense | 3/10 | - | 10 |
20-9624898-G-A | c.79C>T | p.P27S | Missense | 3/10 | - | 4 |
20-9624906-C-T | c.71G>A | p.G24E | Missense | 3/10 | - | 1 |
20-9624907-C-G | c.70G>C | p.G24R | Missense | 3/10 | - | 1 |
20-9624907-C-T | c.70G>A | p.G24R | Missense | 3/10 | - | 1 |
20-9624910-T-C | c.67A>G | p.T23A | Missense | 3/10 | - | 1 |
20-9624912-TG-GC | c.64_65delinsGC | p.H22A | Missense | 3/10 | - | 1 |
20-9624913-G-A | c.64C>T | p.H22Y | Missense | 3/10 | - | 7 |
20-9624915-A-T | c.62T>A | p.V21D | Missense | 3/10 | - | 3 |
20-9624917-C-T | c.60G>A | p.R20= | Synonymous | 3/10 | - | 4 |
20-9624919-T-G | c.58A>C | p.R20= | Synonymous | 3/10 | - | 1 |
20-9624915-A-AC | c.61dup | p.V21Gfs*6 | Frameshift | 3/10 | - | 2 |
20-9624918-C-A | c.59G>T | p.R20M | Missense | 3/10 | - | 1 |
20-9624918-C-T | c.59G>A | p.R20K | Missense | 3/10 | - | 5 |
20-9624921-TG-GC | c.55_56delinsGC | p.H19A | Missense | 3/10 | - | 1 |
20-9624925-C-T | c.52G>A | p.E18K | Missense | 3/10 | - | 1 |
20-9624930-T-A | c.47A>T | p.N16I | Missense | 3/10 | - | 4 |
20-9624932-G-T | c.45C>A | p.S15= | Synonymous | 3/10 | - | 1 |
20-9624935-C-A | c.42G>T | p.P14= | Synonymous | 3/10 | - | 2 |
20-9624935-C-G | c.42G>C | p.P14= | Synonymous | 3/10 | - | 2 |
20-9624935-C-T | c.42G>A | p.P14= | Synonymous | 3/10 | - | 5 |
20-9624936-G-A | c.41C>T | p.P14L | Missense | 3/10 | - | 2 |
20-9624938-G-A | c.39C>T | p.G13= | Synonymous | 3/10 | - | 1 |
20-9624939-C-A | c.38G>T | p.G13V | Missense | 3/10 | - | 5 |
20-9624942-G-A | c.35C>T | p.S12F | Missense | 3/10 | - | 2 |
20-9624942-GA-CC | c.34_35delinsGG | p.S12G | Missense | 3/10 | - | 1 |
20-9624949-C-A | c.28G>T | p.E10* | Nonsense | 3/10 | - | 1 |
20-9624949-C-T | c.28G>A | p.E10K | Missense | 3/10 | - | 1 |
20-9624950-A-T | c.27T>A | p.I9= | Synonymous | 3/10 | - | 3 |
20-9624953-C-T | c.24G>A | p.K8= | Synonymous | 3/10 | - | 2 |
20-9624959-C-T | c.18G>A | p.K6= | Synonymous | 3/10 | - | 3 |
20-9624963-T-A | c.14A>T | p.K5I | Missense | 3/10 | - | 1 |
20-9624965-C-A | c.12G>T | p.K4N | Missense | 3/10 | - | 1 |
20-9624965-C-G | c.12G>C | p.K4N | Missense | 3/10 | - | 1 |
20-9624968-C-T | c.9G>A | p.G3= | Synonymous | 3/10 | - | 1 |
20-9624969-C-T | c.8G>A | p.G3E | Missense | 3/10 | - | 2 |
20-9624970-C-A | c.7G>T | p.G3W | Missense | 3/10 | - | 1 |
20-9625003-G-A | c.-11-16C>T | - | IntronicSNV | - | 2/9 | 7 |
20-9632595-C-T | c.-161-7458G>A | - | IntronicSNV | - | 1/9 | 1 |
20-9636296-T-C | c.-11-11309A>G | - | IntronicSNV | - | 2/9 | 1 |
20-9641555-T-C | c.-11-16568A>G | - | IntronicSNV | - | 2/9 | 1 |
20-9644206-C-A | c.-11-19219G>T | - | IntronicSNV | - | 2/9 | 1 |
20-9649074-T-C | c.-11-24087A>G | - | IntronicSNV | - | 2/9 | 1 |
20-9649234-G-A | c.-11-24247C>T | - | IntronicSNV | - | 2/9 | 1 |
20-9653542-C-G | c.-161-28405G>C | - | IntronicSNV | - | 1/9 | 1 |
20-9653542-C-T | c.-161-28405G>A | - | IntronicSNV | - | 1/9 | 1 |
20-9665895-T-C | c.-12+26039A>G | - | intron_variant | - | 2/9 | 1 |
20-9736363-G-C | c.-161-44280C>G | - | IntronicSNV | - | 1/9 | 1 |
20-9674171-C-T | c.-12+17763G>A | - | intron_variant | - | 2/9 | 1 |
20-9741876-A-G | c.-161-49793T>C | - | IntronicSNV | - | 1/9 | 1 |
20-9692033-C-T | c.-111G>A | - | 5_prime_UTR_variant | 2/10 | - | 3 |
20-9720484-G-C | c.-161-28401C>G | - | intron_variant | - | 1/9 | 1 |
20-9726474-G-T | c.-161-34391C>A | - | intron_variant | - | 1/9 | 1 |
20-9730385-C-T | c.-161-38302G>A | - | intron_variant | - | 1/9 | 1 |
20-9734770-T-C | c.-161-42687A>G | - | intron_variant | - | 1/9 | 1 |
20-9734770-T-G | c.-161-42687A>C | - | intron_variant | - | 1/9 | 1 |
20-9736493-C-T | c.-161-44410G>A | - | intron_variant | - | 1/9 | 1 |
20-9746891-A-T | c.-161-54808T>A | - | intron_variant | - | 1/9 | 1 |
20-9748128-C-A | c.-161-56045G>T | - | intron_variant | - | 1/9 | 1 |
20-9748888-C-A | c.-161-56805G>T | - | intron_variant | - | 1/9 | 1 |
20-9748888-C-T | c.-161-56805G>A | - | intron_variant | - | 1/9 | 1 |
20-9780423-A-C | c.-162+38987T>G | - | intron_variant | - | 1/9 | 1 |
20-9782799-T-A | c.-162+36611A>T | - | intron_variant | - | 1/9 | 1 |
20-9782799-T-C | c.-162+36611A>G | - | intron_variant | - | 1/9 | 1 |
20-9797404-T-C | c.-162+22006A>G | - | intron_variant | - | 1/9 | 1 |
20-9809383-T-C | c.-162+10027A>G | - | intron_variant | - | 1/9 | 1 |
20-9810872-A-T | c.-162+8538T>A | - | intron_variant | - | 1/9 | 1 |
20-9816860-A-G | c.-162+2550T>C | - | intron_variant | - | 1/9 | 2 |
20-9817032-T-C | c.-162+2378A>G | - | intron_variant | - | 1/9 | 1 |
20-9817032-T-G | c.-162+2378A>C | - | intron_variant | - | 1/9 | 1 |
20-9817103-G-A | c.-162+2307C>T | - | intron_variant | - | 1/9 | 1 |
20-9817816-G-A | c.-162+1594C>T | - | intron_variant | - | 1/9 | 1 |