PAK5

PAK5 p21 (RAC1) activated kinase 5

Annotation transcript: NM_177990.4

1441 unique variant annotations were identified in 539 publications

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