AKAP3

AKAP3 A-kinase anchoring protein 3

Annotation transcript: NM_001278309.2

897 unique variant annotations were identified in 395 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
12-4724708-C-T c.*197G>A - 3-UTRSNV 6/6 - 1
12-4724863-C-G c.*42G>C - 3-UTRSNV 6/6 - 1
12-4724863-C-T c.*42G>A - 3-UTRSNV 6/6 - 1
12-4724912-T-C c.2555A>G p.N852S Missense 6/6 - 3
12-4724920-C-G c.2547G>C p.L849= Synonymous 6/6 - 1
12-4724929-C-T c.2538G>A p.L846= Synonymous 6/6 - 2
12-4724934-G-C c.2533C>G p.L845V Missense 6/6 - 1
12-4724941-C-G c.2526G>C p.P842= Synonymous 6/6 - 1
12-4724941-C-T c.2526G>A p.P842= Synonymous 6/6 - 1
12-4724954-C-A c.2513G>T p.G838V Missense 6/6 - 3
12-4724959-C-T c.2508G>A p.A836= Synonymous 6/6 - 2
12-4724962-C-T c.2505G>A p.E835= Synonymous 6/6 - 1
12-4724966-T-A c.2501A>T p.N834I Missense 6/6 - 1
12-4724970-G-C c.2497C>G p.L833V Missense 6/6 - 1
12-4724976-G-A c.2491C>T p.R831C Missense 6/6 - 5
12-4724982-T-G c.2485A>C p.K829Q Missense 6/6 - 1
12-4724985-C-T c.2482G>A p.E828K Missense 6/6 - 3
12-4724993-AG-GA c.2473_2474delinsTC p.L825S Missense 6/6 - 1
12-4724995-C-T c.2472G>A p.V824= Synonymous 6/6 - 3
12-4724996-A-T c.2471T>A p.V824E Missense 6/6 - 1
12-4724998-C-T c.2469G>A p.S823= Synonymous 6/6 - 4
12-4724999-G-A c.2468C>T p.S823L Missense 6/6 - 2
12-4725009-C-T c.2458G>A p.V820I Missense 6/6 - 5
12-4725013-G-A c.2454C>T p.G818= Synonymous 6/6 - 2
12-4725013-G-C c.2454C>G p.G818= Synonymous 6/6 - 1
12-4725013-G-T c.2454C>A p.G818= Synonymous 6/6 - 1
12-4725014-C-T c.2453G>A p.G818D Missense 6/6 - 3
12-4725036-C-A c.2431G>T p.V811L Missense 6/6 - 1
12-4725036-C-G c.2431G>C p.V811L Missense 6/6 - 1
12-4725047-G-A c.2420C>T p.S807L Missense 6/6 - 2
12-4725055-A-C c.2412T>G p.L804= Synonymous 6/6 - 1
12-4725055-A-G c.2412T>C p.L804= Synonymous 6/6 - 1
12-4725055-A-T c.2412T>A p.L804= Synonymous 6/6 - 1
12-4725057-G-A c.2410C>T p.L804F Missense 6/6 - 1
12-4725086-G-C c.2407-26C>G - IntronicSNV - 5/5 1
12-4725134-G-A c.2407-74C>T - IntronicSNV - 5/5 7
12-4733566-A-G c.2406+2096T>C - IntronicSNV - 5/5 1
12-4733566-A-T c.2406+2096T>A - IntronicSNV - 5/5 1
12-4735665-C-T c.2403G>A p.E801= Synonymous 5/6 - 1
12-4735667-C-T c.2401G>A p.E801K Missense 5/6 - 1
12-4735674-C-T c.2394G>A p.G798= Synonymous 5/6 - 2
12-4735675-C-T c.2393G>A p.G798E Missense 5/6 - 2
12-4735676-C-T c.2392G>A p.G798R Missense 5/6 - 2
12-4735677-T-A c.2391A>T p.E797D Missense 5/6 - 1
12-4735677-T-G c.2391A>C p.E797D Missense 5/6 - 1
12-4735679-C-T c.2389G>A p.E797K Missense 5/6 - 1
12-4735687-C-T c.2381G>A p.G794D Missense 5/6 - 1
12-4735688-C-A c.2380G>T p.G794C Missense 5/6 - 1
12-4735688-C-G c.2380G>C p.G794R Missense 5/6 - 1
12-4735690-G-A c.2378C>T p.A793V Missense 5/6 - 1
12-4735702-A-G c.2366T>C p.I789T Missense 5/6 - 1
12-4735707-G-A c.2361C>T p.V787= Synonymous 5/6 - 2
12-4735708-A-G c.2360T>C p.V787A Missense 5/6 - 4
12-4735713-G-A c.2355C>T p.L785= Synonymous 5/6 - 2
12-4735720-G-A c.2348C>T p.S783F Missense 5/6 - 4
12-4735734-T-C c.2334A>G p.Q778= Synonymous 5/6 - 9
12-4735736-G-A c.2332C>T p.Q778* Nonsense 5/6 - 3
12-4735737-A-C c.2331T>G p.L777= Synonymous 5/6 - 1
12-4735737-A-G c.2331T>C p.L777= Synonymous 5/6 - 13
12-4735737-A-T c.2331T>A p.L777= Synonymous 5/6 - 11
12-4735742-C-T c.2326G>A p.V776I Missense 5/6 - 1
12-4735743-G-A c.2325C>T p.A775= Synonymous 5/6 - 2
12-4735746-T-A c.2322A>T p.Q774H Missense 5/6 - 2
12-4735746-T-G c.2322A>C p.Q774H Missense 5/6 - 1
12-4735748-G-A c.2320C>T p.Q774* Nonsense 5/6 - 2
12-4735766-C-T c.2302G>A p.V768I Missense 5/6 - 1
12-4735770-G-A c.2298C>T p.D766= Synonymous 5/6 - 1
12-4735772-C-A c.2296G>T p.D766Y Missense 5/6 - 1
12-4735774-G-A c.2294C>T p.T765M Missense 5/6 - 3
12-4735777-A-G c.2291T>C p.L764P Missense 5/6 - 1
12-4735792-A-G c.2276T>C p.V759A Missense 5/6 - 1
12-4735800-C-A c.2268G>T p.T756= Synonymous 5/6 - 1
12-4735800-C-G c.2268G>C p.T756= Synonymous 5/6 - 1
12-4735800-C-T c.2268G>A p.T756= Synonymous 5/6 - 1
12-4735801-G-A c.2267C>T p.T756M Missense 5/6 - 1
12-4735801-G-T c.2267C>A p.T756K Missense 5/6 - 1
12-4735802-T-C c.2266A>G p.T756A Missense 5/6 - 1
12-4735805-G-A c.2263C>T p.P755S Missense 5/6 - 1
12-4735808-C-T c.2260G>A p.A754T Missense 5/6 - 1
12-4735811-C-T c.2257G>A p.A753T Missense 5/6 - 2
12-4735816-C-A c.2252G>T p.G751V Missense 5/6 - 1
12-4735818-T-A c.2250A>T p.E750D Missense 5/6 - 1
12-4735818-T-G c.2250A>C p.E750D Missense 5/6 - 2
12-4735820-C-G c.2248G>C p.E750Q Missense 5/6 - 1
12-4735822-G-A c.2246C>T p.P749L Missense 5/6 - 1
12-4735823-G-A c.2245C>T p.P749S Missense 5/6 - 3
12-4735821-A-AG c.2246dup p.E750* Nonsense 5/6 - 1
12-4735833-TG-AA c.2234_2235delinsTT p.S745F Missense 5/6 - 1
12-4735834-G-A c.2234C>T p.S745L Missense 5/6 - 1
12-4735850-C-T c.2218G>A p.E740K Missense 5/6 - 4
12-4735854-A-G c.2214T>C p.H738= Synonymous 5/6 - 1
12-4735855-T-C c.2213A>G p.H738R Missense 5/6 - 3
12-4735856-G-A c.2212C>T p.H738Y Missense 5/6 - 5
12-4735865-G-C c.2203C>G p.Q735E Missense 5/6 - 2
12-4735865-G-T c.2203C>A p.Q735K Missense 5/6 - 1
12-4735866-A-G c.2202T>C p.Y734= Synonymous 5/6 - 1
12-4735867-T-C c.2201A>G p.Y734C Missense 5/6 - 1
12-4735869-G-A c.2199C>T p.A733= Synonymous 5/6 - 1
12-4735869-G-C c.2199C>G p.A733= Synonymous 5/6 - 1
12-4735869-G-T c.2199C>A p.A733= Synonymous 5/6 - 1
12-4735874-T-C c.2194A>G p.N732D Missense 5/6 - 1
12-4735875-C-G c.2193G>C p.Q731H Missense 5/6 - 1
12-4735878-CAG-AAA c.2188_2190delinsTTT p.L730F Missense 5/6 - 1
12-4735881-G-A c.2187C>T p.V729= Synonymous 5/6 - 1
12-4735887-T-A c.2181A>T p.E727D Missense 5/6 - 1
12-4735887-T-G c.2181A>C p.E727D Missense 5/6 - 1
12-4735889-C-A c.2179G>T p.E727* Nonsense 5/6 - 2
12-4735893-T-A c.2175A>T p.S725= Synonymous 5/6 - 3
12-4735893-T-C c.2175A>G p.S725= Synonymous 5/6 - 3
12-4735893-T-G c.2175A>C p.S725= Synonymous 5/6 - 3
12-4735894-G-A c.2174C>T p.S725L Missense 5/6 - 13
12-4735894-G-C c.2174C>G p.S725* Nonsense 5/6 - 1
12-4735894-G-T c.2174C>A p.S725* Nonsense 5/6 - 1
12-4735909-G-A c.2159C>T p.A720V Missense 5/6 - 1
12-4735913-G-A c.2155C>T p.P719S Missense 5/6 - 2
12-4735925-A-C c.2143T>G p.Y715D Missense 5/6 - 2
12-4735934-C-A c.2134G>T p.D712Y Missense 5/6 - 2
12-4735937-G-A c.2131C>T p.P711S Missense 5/6 - 2
12-4735935-TG-T c.2132del p.P711Qfs*31 Frameshift 5/6 - 1
12-4735940-A-C c.2128T>G p.F710V Missense 5/6 - 2
12-4735945-G-A c.2123C>T p.S708L Missense 5/6 - 1
12-4735946-A-G c.2122T>C p.S708P Missense 5/6 - 1
12-4735958-T-C c.2110A>G p.S704G Missense 5/6 - 1
12-4735961-C-T c.2107G>A p.A703T Missense 5/6 - 1
12-4735963-T-TC c.2104dup p.D702Gfs*4 Frameshift 5/6 - 1
12-4735964-C-A c.2104G>T p.D702Y Missense 5/6 - 1
12-4735964-C-G c.2104G>C p.D702H Missense 5/6 - 1
12-4735964-C-T c.2104G>A p.D702N Missense 5/6 - 1
12-4735965-T-TC c.2102dup p.D702Rfs*4 Frameshift 5/6 - 10
12-4735967-C-A c.2101G>T p.G701* Nonsense 5/6 - 1
12-4735960-GCATCTCCAGACTTGT-G c.2093_2107del p.D698_D702del InFrameDeletion 5/6 - 1
12-4735968-A-C c.2100T>G p.S700= Synonymous 5/6 - 4
12-4735968-A-G c.2100T>C p.S700= Synonymous 5/6 - 1
12-4735968-AGA-CAG c.2098_2100delinsCTG p.S700L Missense 5/6 - 2
12-4735968-AGA-CTG c.2098_2100delinsCAG p.S700Q Missense 5/6 - 1
12-4735968-A-T c.2100T>A p.S700= Synonymous 5/6 - 1
12-4735969-G-A c.2099C>T p.S700F Missense 5/6 - 18
12-4735969-GA-AG c.2098_2099delinsCT p.S700L Missense 5/6 - 1
12-4735970-A-G c.2098T>C p.S700P Missense 5/6 - 15
12-4735970-A-T c.2098T>A p.S700T Missense 5/6 - 3
12-4735970-GA-G c.2098del p.S700Lfs*7 Frameshift 5/6 - 8
12-4735970-A-ACTTGTCGTCACCAAGCTTGTCGTCACCAAG c.2097_2098insCTTGGTGACGACAAGCTTGGTGACGACAAG p.K699_S700insLGDDKLGDDK InFrameInsertion 5/6 - 1
12-4735979-C-G c.2089G>C p.D697H Missense 5/6 - 2
12-4735979-C-T c.2089G>A p.D697N Missense 5/6 - 1
12-4735980-T-A c.2088A>T p.G696= Synonymous 5/6 - 1
12-4735982-C-G c.2086G>C p.G696R Missense 5/6 - 2
12-4735982-C-T c.2086G>A p.G696R Missense 5/6 - 3
12-4735986-C-T c.2082G>A p.E694= Synonymous 5/6 - 1
12-4735970-A-ACTTGTCATCTCCCAGCTTGTCATCTCCCAG c.2097_2098insCTGGGAGATGACAAGCTGGGAGATGACAAG p.K699_S700insLGDDKLGDDK InFrameInsertion 5/6 - 2
12-4735996-G-A c.2072C>T p.S691L Missense 5/6 - 3
12-4736003-C-T c.2065G>A p.D689N Missense 5/6 - 1
12-4736007-G-A c.2061C>T p.S687= Synonymous 5/6 - 2
12-4736007-G-T c.2061C>A p.S687= Synonymous 5/6 - 1
12-4736009-A-G c.2059T>C p.S687P Missense 5/6 - 1
12-4736012-T-C c.2056A>G p.K686E Missense 5/6 - 1
12-4736013-A-C c.2055T>G p.A685= Synonymous 5/6 - 1
12-4736013-A-G c.2055T>C p.A685= Synonymous 5/6 - 1
12-4736013-A-T c.2055T>A p.A685= Synonymous 5/6 - 1
12-4736015-C-T c.2053G>A p.A685T Missense 5/6 - 1
12-4736017-A-G c.2051T>C p.I684T Missense 5/6 - 1
12-4736018-T-C c.2050A>G p.I684V Missense 5/6 - 2
12-4736021-T-C c.2047A>G p.I683V Missense 5/6 - 1
12-4736021-T-G c.2047A>C p.I683L Missense 5/6 - 2
12-4736022-G-A c.2046C>T p.V682= Synonymous 5/6 - 1
12-4736022-G-C c.2046C>G p.V682= Synonymous 5/6 - 1
12-4736022-G-T c.2046C>A p.V682= Synonymous 5/6 - 1
12-4736032-T-C c.2036A>G p.K679R Missense 5/6 - 1
12-4736039-C-A c.2029G>T p.V677L Missense 5/6 - 4
12-4736039-C-G c.2029G>C p.V677L Missense 5/6 - 2
12-4736042-A-T c.2026T>A p.S676T Missense 5/6 - 2
12-4736048-T-A c.2020A>T p.M674L Missense 5/6 - 1
12-4736048-T-G c.2020A>C p.M674L Missense 5/6 - 1
12-4736054-G-A c.2014C>T p.H672Y Missense 5/6 - 3
12-4736060-C-A c.2008G>T p.V670L Missense 5/6 - 1
12-4736061-C-T c.2007G>A p.M669I Missense 5/6 - 1
12-4736078-G-A c.1990C>T p.H664Y Missense 5/6 - 1
12-4736084-C-A c.1984G>T p.D662Y Missense 5/6 - 1
12-4736085-T-A c.1983A>T p.I661= Synonymous 5/6 - 2
12-4736085-T-G c.1983A>C p.I661= Synonymous 5/6 - 2
12-4736086-A-G c.1982T>C p.I661T Missense 5/6 - 18
12-4736090-G-A c.1978C>T p.Q660* Nonsense 5/6 - 1
12-4736090-G-T c.1978C>A p.Q660K Missense 5/6 - 1
12-4736092-C-G c.1976G>C p.S659T Missense 5/6 - 1
12-4736094-G-A c.1974C>T p.V658= Synonymous 5/6 - 1
12-4736094-G-C c.1974C>G p.V658= Synonymous 5/6 - 1
12-4736094-G-T c.1974C>A p.V658= Synonymous 5/6 - 1
12-4736095-A-G c.1973T>C p.V658A Missense 5/6 - 1
12-4736096-C-A c.1972G>T p.V658F Missense 5/6 - 1
12-4736101-A-T c.1967T>A p.M656K Missense 5/6 - 1
12-4736104-T-G c.1964A>C p.K655T Missense 5/6 - 1
12-4736107-G-A c.1961C>T p.T654I Missense 5/6 - 1
12-4736113-C-G c.1955G>C p.G652A Missense 5/6 - 1
12-4736114-C-A c.1954G>T p.G652W Missense 5/6 - 1
12-4736116-G-C c.1952C>G p.S651C Missense 5/6 - 2
12-4736116-G-T c.1952C>A p.S651Y Missense 5/6 - 1
12-4736120-G-A c.1948C>T p.L650F Missense 5/6 - 2
12-4736121-G-A c.1947C>T p.A649= Synonymous 5/6 - 1
12-4736121-G-C c.1947C>G p.A649= Synonymous 5/6 - 1
12-4736121-G-T c.1947C>A p.A649= Synonymous 5/6 - 1
12-4736125-C-T c.1943G>A p.G648D Missense 5/6 - 1
12-4736133-C-G c.1935G>C p.E645D Missense 5/6 - 1
12-4736139-A-G c.1929T>C p.D643= Synonymous 5/6 - 1
12-4736141-C-T c.1927G>A p.D643N Missense 5/6 - 1
12-4736144-C-T c.1924G>A p.E642K Missense 5/6 - 2
12-4736146-T-A c.1922A>T p.Y641F Missense 5/6 - 5
12-4736151-C-A c.1917G>T p.R639S Missense 5/6 - 1
12-4736153-CT-C c.1915del p.R639Gfs*15 Frameshift 5/6 - 1
12-4736153-T-C c.1915A>G p.R639G Missense 5/6 - 2
12-4736154-G-A c.1914C>T p.P638= Synonymous 5/6 - 1
12-4736154-G-C c.1914C>G p.P638= Synonymous 5/6 - 1
12-4736154-G-T c.1914C>A p.P638= Synonymous 5/6 - 1
12-4736155-G-A c.1913C>T p.P638L Missense 5/6 - 1
12-4736157-G-A c.1911C>T p.P637= Synonymous 5/6 - 1
12-4736157-G-C c.1911C>G p.P637= Synonymous 5/6 - 1
12-4736157-G-T c.1911C>A p.P637= Synonymous 5/6 - 1
12-4736158-G-A c.1910C>T p.P637L Missense 5/6 - 4
12-4736153-TG-T c.1914del p.R639Gfs*15 Frameshift 5/6 - 1
12-4736153-T-TG c.1914dup p.R639Qfs*4 Frameshift 5/6 - 1
12-4736164-G-A c.1904C>T p.S635F Missense 5/6 - 1
12-4736164-G-T c.1904C>A p.S635Y Missense 5/6 - 2
12-4736166-C-T c.1902G>A p.A634= Synonymous 5/6 - 1
12-4736167-G-A c.1901C>T p.A634V Missense 5/6 - 2
12-4736168-C-A c.1900G>T p.A634S Missense 5/6 - 1
12-4736168-C-T c.1900G>A p.A634T Missense 5/6 - 2
12-4736172-C-A c.1896G>T p.P632= Synonymous 5/6 - 2
12-4736172-C-G c.1896G>C p.P632= Synonymous 5/6 - 2
12-4736172-C-T c.1896G>A p.P632= Synonymous 5/6 - 4
12-4736173-G-A c.1895C>T p.P632L Missense 5/6 - 8
12-4736174-G-A c.1894C>T p.P632S Missense 5/6 - 1
12-4736184-C-A c.1884G>T p.L628F Missense 5/6 - 1
12-4736184-C-G c.1884G>C p.L628F Missense 5/6 - 1
12-4736191-C-T c.1877G>A p.R626K Missense 5/6 - 1
12-4736204-C-A c.1864G>T p.V622F Missense 5/6 - 3
12-4736208-C-A c.1860G>T p.Q620H Missense 5/6 - 1
12-4736208-C-G c.1860G>C p.Q620H Missense 5/6 - 1
12-4736210-G-A c.1858C>T p.Q620* Nonsense 5/6 - 1
12-4736210-G-C c.1858C>G p.Q620E Missense 5/6 - 1
12-4736212-T-C c.1856A>G p.E619G Missense 5/6 - 1
12-4736215-G-A c.1853C>T p.P618L Missense 5/6 - 1
12-4736221-T-G c.1847A>C p.K616T Missense 5/6 - 3
12-4736223-G-A c.1845C>T p.P615= Synonymous 5/6 - 1
12-4736228-C-T c.1840G>A p.E614K Missense 5/6 - 7
12-4736232-G-A c.1836C>T p.S612= Synonymous 5/6 - 1
12-4736242-C-T c.1826G>A p.R609H Missense 5/6 - 2
12-4736243-G-A c.1825C>T p.R609C Missense 5/6 - 1
12-4736244-C-A c.1824G>T p.K608N Missense 5/6 - 2
12-4736244-C-G c.1824G>C p.K608N Missense 5/6 - 1
12-4736245-T-C c.1823A>G p.K608R Missense 5/6 - 1
12-4736268-G-A c.1800C>T p.N600= Synonymous 5/6 - 2
12-4736269-T-C c.1799A>G p.N600S Missense 5/6 - 1
12-4736271-C-T c.1797G>A p.R599= Synonymous 5/6 - 2
12-4736272-C-T c.1796G>A p.R599Q Missense 5/6 - 5
12-4736273-G-A c.1795C>T p.R599W Missense 5/6 - 2
12-4736274-G-A c.1794C>T p.I598= Synonymous 5/6 - 1
12-4736274-G-T c.1794C>A p.I598= Synonymous 5/6 - 1
12-4736275-A-T c.1793T>A p.I598N Missense 5/6 - 1
12-4736276-T-A c.1792A>T p.I598F Missense 5/6 - 1
12-4736286-G-T c.1782C>A p.F594L Missense 5/6 - 1
12-4736290-A-T c.1778T>A p.V593D Missense 5/6 - 1
12-4736293-C-T c.1775G>A p.S592N Missense 5/6 - 2
12-4736294-T-C c.1774A>G p.S592G Missense 5/6 - 3
12-4736295-C-A c.1773G>T p.R591S Missense 5/6 - 1
12-4736295-C-G c.1773G>C p.R591S Missense 5/6 - 1
12-4736296-C-A c.1772G>T p.R591M Missense 5/6 - 2
12-4736296-C-G c.1772G>C p.R591T Missense 5/6 - 1
12-4736296-C-T c.1772G>A p.R591K Missense 5/6 - 7
12-4736296-CT-TG c.1771_1772delinsCA p.R591Q Missense 5/6 - 1
12-4736297-T-A c.1771A>T p.R591W Missense 5/6 - 1
12-4736300-G-A c.1768C>T p.L590= Synonymous 5/6 - 1
12-4736302-TC-T c.1765del p.D589Tfs*2 Frameshift 5/6 - 1
12-4736307-C-A c.1761G>T p.K587N Missense 5/6 - 1
12-4736307-C-G c.1761G>C p.K587N Missense 5/6 - 1
12-4736308-T-C c.1760A>G p.K587R Missense 5/6 - 1
12-4736312-C-A c.1756G>T p.E586* Nonsense 5/6 - 3
12-4736315-C-G c.1753G>C p.A585P Missense 5/6 - 1
12-4736321-C-A c.1747G>T p.E583* Nonsense 5/6 - 1
12-4736322-T-C c.1746A>G p.Q582= Synonymous 5/6 - 1
12-4736324-G-T c.1744C>A p.Q582K Missense 5/6 - 1
12-4736334-A-G c.1734T>C p.I578= Synonymous 5/6 - 2
12-4736334-A-T c.1734T>A p.I578= Synonymous 5/6 - 1
12-4736337-G-T c.1731C>A p.P577= Synonymous 5/6 - 1
12-4736342-C-A c.1726G>T p.A576S Missense 5/6 - 2
12-4736342-C-T c.1726G>A p.A576T Missense 5/6 - 1
12-4736360-C-G c.1708G>C p.E570Q Missense 5/6 - 1
12-4736363-C-A c.1705G>T p.D569Y Missense 5/6 - 1
12-4736363-C-T c.1705G>A p.D569N Missense 5/6 - 6
12-4736365-G-A c.1703C>T p.P568L Missense 5/6 - 4
12-4736370-T-A c.1698A>T p.V566= Synonymous 5/6 - 1
12-4736370-T-C c.1698A>G p.V566= Synonymous 5/6 - 1
12-4736370-T-G c.1698A>C p.V566= Synonymous 5/6 - 1
12-4736373-A-G c.1695T>C p.P565= Synonymous 5/6 - 1
12-4736377-G-A c.1691C>T p.P564L Missense 5/6 - 1
12-4736379-T-C c.1689A>G p.E563= Synonymous 5/6 - 1
12-4736387-C-T c.1681G>A p.A561T Missense 5/6 - 2
12-4736388-AG-TT c.1679_1680delinsAA p.P560Q Missense 5/6 - 1
12-4736390-G-A c.1678C>T p.P560S Missense 5/6 - 5
12-4736403-G-T c.1665C>A p.G555= Synonymous 5/6 - 1
12-4736410-G-A c.1658C>T p.A553V Missense 5/6 - 2
12-4736414-C-A c.1654G>T p.E552* Nonsense 5/6 - 5
12-4736418-G-A c.1650C>T p.F550= Synonymous 5/6 - 3
12-4736421-G-A c.1647C>T p.S549= Synonymous 5/6 - 3
12-4736433-C-A c.1635G>T p.R545S Missense 5/6 - 3
12-4736433-C-G c.1635G>C p.R545S Missense 5/6 - 1
12-4736437-C-A c.1631G>T p.R544I Missense 5/6 - 1
12-4736437-C-T c.1631G>A p.R544K Missense 5/6 - 2
12-4736437-CT-TG c.1630_1631delinsCA p.R544Q Missense 5/6 - 1
12-4736441-C-T c.1627G>A p.G543R Missense 5/6 - 1
12-4736445-C-A c.1623G>T p.Q541H Missense 5/6 - 3
12-4736445-C-G c.1623G>C p.Q541H Missense 5/6 - 2
12-4736447-G-C c.1621C>G p.Q541E Missense 5/6 - 1
12-4736450-C-A c.1618G>T p.A540S Missense 5/6 - 2
12-4736451-C-A c.1617G>T p.L539= Synonymous 5/6 - 1
12-4736453-G-A c.1615C>T p.L539= Synonymous 5/6 - 2
12-4736456-G-A c.1612C>T p.H538Y Missense 5/6 - 2
12-4736457-A-C c.1611T>G p.Y537* Nonsense 5/6 - 1
12-4736457-A-T c.1611T>A p.Y537* Nonsense 5/6 - 1
12-4736462-G-A c.1606C>T p.Q536* Nonsense 5/6 - 2
12-4736462-G-C c.1606C>G p.Q536E Missense 5/6 - 1
12-4736466-TCAGAAGCAGGGCAGACACG-T c.1584_1602del p.V529Ffs*32 Frameshift 5/6 - 1
12-4736469-AAG-CAT c.1597_1599delinsATG p.L533M Missense 5/6 - 3
12-4736471-G-T c.1597C>A p.L533I Missense 5/6 - 1
12-4736476-G-A c.1592C>T p.A531V Missense 5/6 - 3
12-4736477-C-T c.1591G>A p.A531T Missense 5/6 - 3
12-4736479-GA-AG c.1588_1589delinsCT p.S530L Missense 5/6 - 1
12-4736480-A-G c.1588T>C p.S530P Missense 5/6 - 2
12-4736483-C-T c.1585G>A p.V529M Missense 5/6 - 1
12-4736484-G-A c.1584C>T p.I528= Synonymous 5/6 - 8
12-4736484-G-C c.1584C>G p.I528M Missense 5/6 - 1
12-4736484-G-T c.1584C>A p.I528= Synonymous 5/6 - 1
12-4736489-AGGT-A c.1577_1579del p.D526_L527delinsV MultiAAMissense 5/6 - 1
12-4736494-T-C c.1574A>G p.E525G Missense 5/6 - 1
12-4736495-C-T c.1573G>A p.E525K Missense 5/6 - 29
12-4736505-G-A c.1563C>T p.D521= Synonymous 5/6 - 1
12-4736506-T-A c.1562A>T p.D521V Missense 5/6 - 1
12-4736513-C-T c.1555G>A p.D519N Missense 5/6 - 2
12-4736517-C-A c.1551G>T p.M517I Missense 5/6 - 1
12-4736517-C-G c.1551G>C p.M517I Missense 5/6 - 1
12-4736517-C-T c.1551G>A p.M517I Missense 5/6 - 1
12-4736526-C-A c.1542G>T p.E514D Missense 5/6 - 3
12-4736526-C-G c.1542G>C p.E514D Missense 5/6 - 2
12-4736528-C-G c.1540G>C p.E514Q Missense 5/6 - 2
12-4736530-G-C c.1538C>G p.P513R Missense 5/6 - 1
12-4736535-C-A c.1533G>T p.E511D Missense 5/6 - 2
12-4736535-C-G c.1533G>C p.E511D Missense 5/6 - 1
12-4736536-T-C c.1532A>G p.E511G Missense 5/6 - 1
12-4736537-C-T c.1531G>A p.E511K Missense 5/6 - 2
12-4736540-G-T c.1528C>A p.P510T Missense 5/6 - 1
12-4736542-G-A c.1526C>T p.P509L Missense 5/6 - 4
12-4736543-G-A c.1525C>T p.P509S Missense 5/6 - 1
12-4736544-A-C c.1524T>G p.Y508* Nonsense 5/6 - 1
12-4736544-A-T c.1524T>A p.Y508* Nonsense 5/6 - 1
12-4736546-A-G c.1522T>C p.Y508H Missense 5/6 - 1
12-4736553-AAG-CAT c.1513_1515delinsATG p.L505M Missense 5/6 - 1
12-4736557-C-G c.1511G>C p.S504T Missense 5/6 - 1
12-4736558-T-TG c.1509dup p.S504Qfs*11 Frameshift 5/6 - 1
12-4736561-G-A c.1507C>T p.L503F Missense 5/6 - 1
12-4736563-T-G c.1505A>C p.N502T Missense 5/6 - 1
12-4736566-C-T c.1502G>A p.G501D Missense 5/6 - 1
12-4736568-A-G c.1500T>C p.I500= Synonymous 5/6 - 1
12-4736568-A-T c.1500T>A p.I500= Synonymous 5/6 - 1
12-4736569-A-G c.1499T>C p.I500T Missense 5/6 - 17
12-4736573-C-T c.1495G>A p.D499N Missense 5/6 - 4
12-4736579-G-C c.1489C>G p.P497A Missense 5/6 - 2
12-4736579-G-T c.1489C>A p.P497T Missense 5/6 - 1
12-4736587-A-C c.1481T>G p.F494C Missense 5/6 - 2
12-4736589-G-C c.1479C>G p.S493= Synonymous 5/6 - 1
12-4736590-G-A c.1478C>T p.S493F Missense 5/6 - 2
12-4736597-C-A c.1471G>T p.D491Y Missense 5/6 - 3
12-4736605-G-A c.1463C>T p.P488L Missense 5/6 - 1
12-4736605-G-T c.1463C>A p.P488H Missense 5/6 - 2
12-4736609-T-C c.1459A>G p.K487E Missense 5/6 - 2
12-4736611-C-T c.1457G>A p.R486H Missense 5/6 - 4
12-4736626-G-C c.1442C>G p.A481G Missense 5/6 - 1
12-4736630-C-G c.1438G>C p.E480Q Missense 5/6 - 1
12-4736630-C-T c.1438G>A p.E480K Missense 5/6 - 1
12-4736631-A-C c.1437T>G p.F479L Missense 5/6 - 11
12-4736631-A-G c.1437T>C p.F479= Synonymous 5/6 - 19
12-4736641-T-C c.1427A>G p.H476R Missense 5/6 - 1
12-4736643-C-T c.1425G>A p.Q475= Synonymous 5/6 - 1
12-4736646-G-A c.1422C>T p.F474= Synonymous 5/6 - 3
12-4736650-C-A c.1418G>T p.G473V Missense 5/6 - 1
12-4736650-C-T c.1418G>A p.G473D Missense 5/6 - 1
12-4736651-C-A c.1417G>T p.G473C Missense 5/6 - 2
12-4736662-C-G c.1406G>C p.C469S Missense 5/6 - 1
12-4736663-A-T c.1405T>A p.C469S Missense 5/6 - 1
12-4736664-T-G c.1404A>C p.E468D Missense 5/6 - 1
12-4736666-C-A c.1402G>T p.E468* Nonsense 5/6 - 1
12-4736668-T-A c.1400A>T p.K467I Missense 5/6 - 1
12-4736668-T-G c.1400A>C p.K467T Missense 5/6 - 1
12-4736673-C-T c.1395G>A p.Q465= Synonymous 5/6 - 1
12-4736675-G-A c.1393C>T p.Q465* Nonsense 5/6 - 1
12-4736676-A-AC c.1391_1392insG p.Q465Sfs*6 Frameshift 5/6 - 1
12-4736677-G-C c.1391C>G p.T464S Missense 5/6 - 28
12-4736688-C-T c.1380G>A p.L460= Synonymous 5/6 - 1
12-4736690-A-C c.1378T>G p.L460V Missense 5/6 - 10
12-4736690-A-G c.1378T>C p.L460= Synonymous 5/6 - 19
12-4736690-A-T c.1378T>A p.L460M Missense 5/6 - 10
12-4736692-G-A c.1376C>T p.T459I Missense 5/6 - 1
12-4736693-GT-G c.1375del p.T459Pfs*14 Frameshift 5/6 - 1
12-4736701-T-A c.1367A>T p.E456V Missense 5/6 - 1
12-4736699-CCT-C c.1367_1368del p.E456Gfs*7 Frameshift 5/6 - 1
12-4736707-A-G c.1361T>C p.I454T Missense 5/6 - 1
12-4736708-T-G c.1360A>C p.I454L Missense 5/6 - 1
12-4736709-A-G c.1359T>C p.I453= Synonymous 5/6 - 1
12-4736715-C-T c.1353G>A p.E451= Synonymous 5/6 - 2
12-4736719-C-G c.1349G>C p.G450A Missense 5/6 - 1
12-4736719-C-T c.1349G>A p.G450D Missense 5/6 - 1
12-4736728-T-G c.1340A>C p.K447T Missense 5/6 - 1
12-4736730-C-T c.1338G>A p.A446= Synonymous 5/6 - 2
12-4736731-G-A c.1337C>T p.A446V Missense 5/6 - 5
12-4736732-C-T c.1336G>A p.A446T Missense 5/6 - 1
12-4736739-C-G c.1329G>C p.E443D Missense 5/6 - 1
12-4736744-C-T c.1324G>A p.E442K Missense 5/6 - 1
12-4736747-C-G c.1321G>C p.E441Q Missense 5/6 - 1
12-4736752-T-G c.1316A>C p.K439T Missense 5/6 - 3
12-4736754-G-A c.1314C>T p.P438= Synonymous 5/6 - 1
12-4736754-G-C c.1314C>G p.P438= Synonymous 5/6 - 1
12-4736754-G-T c.1314C>A p.P438= Synonymous 5/6 - 1
12-4736755-G-A c.1313C>T p.P438L Missense 5/6 - 2
12-4736759-C-T c.1309G>A p.E437K Missense 5/6 - 4
12-4736760-A-C c.1308T>G p.S436= Synonymous 5/6 - 1
12-4736760-A-G c.1308T>C p.S436= Synonymous 5/6 - 1
12-4736760-A-T c.1308T>A p.S436= Synonymous 5/6 - 1
12-4736764-T-A c.1304A>T p.Y435F Missense 5/6 - 1
12-4736765-A-T c.1303T>A p.Y435N Missense 5/6 - 2
12-4736773-T-C c.1295A>G p.E432G Missense 5/6 - 2
12-4736776-C-G c.1292G>C p.R431T Missense 5/6 - 5
12-4736783-T-C c.1285A>G p.K429E Missense 5/6 - 1
12-4736789-C-G c.1279G>C p.E427Q Missense 5/6 - 1
12-4736789-C-T c.1279G>A p.E427K Missense 5/6 - 2
12-4736800-G-A c.1268C>T p.A423V Missense 5/6 - 2
12-4736803-A-T c.1265T>A p.F422Y Missense 5/6 - 2
12-4736815-C-T c.1253G>A p.R418Q Missense 5/6 - 8
12-4736825-G-A c.1243C>T p.P415S Missense 5/6 - 3
12-4736828-C-T c.1240G>A p.D414N Missense 5/6 - 3
12-4736831-C-T c.1237G>A p.G413S Missense 5/6 - 1
12-4736832-C-A c.1236G>T p.M412I Missense 5/6 - 2
12-4736832-C-G c.1236G>C p.M412I Missense 5/6 - 1
12-4736832-C-T c.1236G>A p.M412I Missense 5/6 - 1
12-4736838-T-A c.1230A>T p.K410N Missense 5/6 - 1
12-4736838-T-C c.1230A>G p.K410= Synonymous 5/6 - 1
12-4736838-T-G c.1230A>C p.K410N Missense 5/6 - 1
12-4736840-T-C c.1228A>G p.K410E Missense 5/6 - 1
12-4736843-T-A c.1225A>T p.M409L Missense 5/6 - 1
12-4736843-T-C c.1225A>G p.M409V Missense 5/6 - 1
12-4736843-T-G c.1225A>C p.M409L Missense 5/6 - 1
12-4736845-G-T c.1223C>A p.S408Y Missense 5/6 - 1
12-4736863-T-A c.1205A>T p.E402V Missense 5/6 - 1
12-4736863-T-G c.1205A>C p.E402A Missense 5/6 - 1
12-4736864-C-T c.1204G>A p.E402K Missense 5/6 - 2
12-4736873-C-T c.1195G>A p.D399N Missense 5/6 - 2
12-4736874-T-G c.1194A>C p.Q398H Missense 5/6 - 1
12-4736879-C-A c.1189G>T p.A397S Missense 5/6 - 1
12-4736882-T-C c.1186A>G p.K396E Missense 5/6 - 1
12-4736883-C-T c.1185G>A p.R395= Synonymous 5/6 - 2
12-4736890-T-A c.1178A>T p.H393L Missense 5/6 - 1
12-4736891-G-A c.1177C>T p.H393Y Missense 5/6 - 2
12-4736891-G-T c.1177C>A p.H393N Missense 5/6 - 1
12-4736894-C-T c.1174G>A p.E392K Missense 5/6 - 1
12-4736897-G-A c.1171C>T p.P391S Missense 5/6 - 3
12-4736897-G-T c.1171C>A p.P391T Missense 5/6 - 1
12-4736898-G-A c.1170C>T p.V390= Synonymous 5/6 - 2
12-4736905-T-C c.1163A>G p.K388R Missense 5/6 - 1
12-4736907-G-A c.1161C>T p.A387= Synonymous 5/6 - 3
12-4736907-G-C c.1161C>G p.A387= Synonymous 5/6 - 2
12-4736907-G-T c.1161C>A p.A387= Synonymous 5/6 - 3
12-4736908-G-A c.1160C>T p.A387V Missense 5/6 - 2
12-4736918-C-A c.1150G>T p.V384L Missense 5/6 - 1
12-4736924-A-G c.1144T>C p.Y382H Missense 5/6 - 1
12-4736928-C-T c.1140G>A p.K380= Synonymous 5/6 - 1
12-4736930-T-C c.1138A>G p.K380E Missense 5/6 - 1
12-4736932-C-T c.1136G>A p.R379K Missense 5/6 - 1
12-4736948-T-A c.1120A>T p.M374L Missense 5/6 - 1
12-4736948-T-G c.1120A>C p.M374L Missense 5/6 - 1
12-4736949-G-A c.1119C>T p.I373= Synonymous 5/6 - 1
12-4736949-G-T c.1119C>A p.I373= Synonymous 5/6 - 1
12-4736961-C-A c.1107G>T p.K369N Missense 5/6 - 2
12-4736961-CCTTTTGGCTTCCATGAGAGAAGACAGT-C c.1081_1107del p.T361_K369del InFrameDeletion 5/6 - 1
12-4736961-C-G c.1107G>C p.K369N Missense 5/6 - 2
12-4736961-C-T c.1107G>A p.K369= Synonymous 5/6 - 2
12-4736971-CC-TT c.1096_1097delinsAA p.G366K Missense 5/6 - 1
12-4736979-G-A c.1089C>T p.F363= Synonymous 5/6 - 1
12-4736979-G-C c.1089C>G p.F363L Missense 5/6 - 1
12-4736979-G-T c.1089C>A p.F363L Missense 5/6 - 1
12-4736981-A-G c.1087T>C p.F363L Missense 5/6 - 1
12-4736993-T-G c.1075A>C p.K359Q Missense 5/6 - 1
12-4736994-C-T c.1074G>A p.V358= Synonymous 5/6 - 1
12-4736999-C-T c.1069G>A p.A357T Missense 5/6 - 1
12-4737000-C-T c.1068G>A p.S356= Synonymous 5/6 - 1
12-4737001-G-A c.1067C>T p.S356L Missense 5/6 - 4
12-4737009-AC-A c.1059del p.Q353Hfs*6 Frameshift 5/6 - 1
12-4737011-G-A c.1057C>T p.Q353* Nonsense 5/6 - 1
12-4737023-T-C c.1045A>G p.M349V Missense 5/6 - 1
12-4737024-G-A c.1044C>T p.L348= Synonymous 5/6 - 1
12-4737024-G-C c.1044C>G p.L348= Synonymous 5/6 - 1
12-4737024-G-T c.1044C>A p.L348= Synonymous 5/6 - 1
12-4737030-C-T c.1038G>A p.G346= Synonymous 5/6 - 4
12-4737035-T-G c.1033A>C p.T345P Missense 5/6 - 1
12-4737038-C-G c.1030G>C p.V344L Missense 5/6 - 1
12-4737038-C-T c.1030G>A p.V344I Missense 5/6 - 8
12-4737042-G-A c.1026C>T p.H342= Synonymous 5/6 - 13
12-4737047-G-T c.1021C>A p.L341I Missense 5/6 - 3
12-4737048-A-C c.1020T>G p.N340K Missense 5/6 - 2
12-4737053-T-C c.1015A>G p.R339G Missense 5/6 - 3
12-4737054-C-A c.1014G>T p.L338F Missense 5/6 - 1
12-4737061-G-A c.1007C>T p.S336F Missense 5/6 - 4
12-4737065-C-T c.1003G>A p.D335N Missense 5/6 - 3
12-4737066-G-A c.1002C>T p.I334= Synonymous 5/6 - 2
12-4737066-G-T c.1002C>A p.I334= Synonymous 5/6 - 2
12-4737070-A-G c.998T>C p.L333P Missense 5/6 - 1
12-4737074-C-T c.994G>A p.D332N Missense 5/6 - 1
12-4737076-G-A c.992C>T p.S331L Missense 5/6 - 5
12-4737076-G-C c.992C>G p.S331W Missense 5/6 - 1
12-4737080-C-T c.988G>A p.V330I Missense 5/6 - 1
12-4737086-C-A c.982G>T p.E328* Nonsense 5/6 - 1
12-4737087-T-C c.981A>G p.K327= Synonymous 5/6 - 1
12-4737087-T-G c.981A>C p.K327N Missense 5/6 - 4
12-4737089-T-G c.979A>C p.K327Q Missense 5/6 - 1
12-4737094-T-A c.974A>T p.H325L Missense 5/6 - 3
12-4737094-T-C c.974A>G p.H325R Missense 5/6 - 1
12-4737095-G-A c.973C>T p.H325Y Missense 5/6 - 3
12-4737095-G-T c.973C>A p.H325N Missense 5/6 - 1
12-4737099-G-A c.969C>T p.L323= Synonymous 5/6 - 1
12-4737100-A-G c.968T>C p.L323P Missense 5/6 - 1
12-4737101-G-A c.967C>T p.L323F Missense 5/6 - 1
12-4737105-AAC-CAT c.961_963delinsATG p.V321M Missense 5/6 - 1
12-4737114-C-T c.954G>A p.L318= Synonymous 5/6 - 1
12-4737115-A-T c.953T>A p.L318Q Missense 5/6 - 2
12-4737120-G-A c.948C>T p.I316= Synonymous 5/6 - 3
12-4737120-G-T c.948C>A p.I316= Synonymous 5/6 - 1
12-4737127-G-A c.941C>T p.A314V Missense 5/6 - 1
12-4737138-G-C c.930C>G p.D310E Missense 5/6 - 1
12-4737138-G-T c.930C>A p.D310E Missense 5/6 - 1
12-4737140-C-G c.928G>C p.D310H Missense 5/6 - 1
12-4737141-CTTT-C c.925_927del p.K309del InFrameDeletion 5/6 - 1
12-4737145-A-G c.923T>C p.V308A Missense 5/6 - 1
12-4737145-A-T c.923T>A p.V308E Missense 5/6 - 1
12-4737148-T-C c.920A>G p.Q307R Missense 5/6 - 1
12-4737149-G-T c.919C>A p.Q307K Missense 5/6 - 1
12-4737151-A-G c.917T>C p.I306T Missense 5/6 - 2
12-4737151-A-T c.917T>A p.I306N Missense 5/6 - 1
12-4737154-T-C c.914A>G p.K305R Missense 5/6 - 1
12-4737168-G-A c.900C>T p.I300= Synonymous 5/6 - 1
12-4737168-G-T c.900C>A p.I300= Synonymous 5/6 - 1
12-4737172-G-C c.896C>G p.S299C Missense 5/6 - 1
12-4737174-G-A c.894C>T p.V298= Synonymous 5/6 - 1
12-4737176-C-T c.892G>A p.V298I Missense 5/6 - 1
12-4737178-A-G c.890T>C p.M297T Missense 5/6 - 1
12-4737179-T-C c.889A>G p.M297V Missense 5/6 - 1
12-4737183-A-C c.885T>G p.D295E Missense 5/6 - 1
12-4737183-A-T c.885T>A p.D295E Missense 5/6 - 1
12-4737185-TC-T c.883del p.D295Ifs*2 Frameshift 5/6 - 1
12-4737187-G-A c.881C>T p.S294F Missense 5/6 - 3
12-4737187-G-C c.881C>G p.S294C Missense 5/6 - 1
12-4737191-C-A c.877G>T p.V293L Missense 5/6 - 1
12-4737191-C-G c.877G>C p.V293L Missense 5/6 - 1
12-4737195-A-G c.873T>C p.S291= Synonymous 5/6 - 1
12-4737196-C-T c.872G>A p.S291N Missense 5/6 - 1
12-4737199-T-C c.869A>G p.N290S Missense 5/6 - 1
12-4737202-G-A c.866C>T p.A289V Missense 5/6 - 1
12-4737207-G-A c.861C>T p.T287= Synonymous 5/6 - 1
12-4737217-C-T c.851G>A p.G284E Missense 5/6 - 1
12-4737222-A-C c.846T>G p.S282R Missense 5/6 - 2
12-4737222-A-T c.846T>A p.S282R Missense 5/6 - 2
12-4737224-T-G c.844A>C p.S282R Missense 5/6 - 2
12-4737223-C-A c.845G>T p.S282I Missense 5/6 - 1
12-4737229-G-T c.839C>A p.S280Y Missense 5/6 - 1
12-4737232-G-A c.836C>T p.A279V Missense 5/6 - 1
12-4737233-C-A c.835G>T p.A279S Missense 5/6 - 1
12-4737235-G-A c.833C>T p.T278M Missense 5/6 - 2
12-4737238-A-G c.830T>C p.F277S Missense 5/6 - 1
12-4737245-C-A c.823G>T p.D275Y Missense 5/6 - 1
12-4737245-C-T c.823G>A p.D275N Missense 5/6 - 2
12-4737252-T-A c.816A>T p.E272D Missense 5/6 - 1
12-4737252-T-G c.816A>C p.E272D Missense 5/6 - 1
12-4737259-C-A c.809G>T p.G270V Missense 5/6 - 1
12-4737260-C-A c.808G>T p.G270W Missense 5/6 - 1
12-4737262-C-A c.806G>T p.R269L Missense 5/6 - 2
12-4737262-C-T c.806G>A p.R269Q Missense 5/6 - 8
12-4737263-G-A c.805C>T p.R269* Nonsense 5/6 - 4
12-4737269-T-C c.799A>G p.R267G Missense 5/6 - 1
12-4737270-C-G c.798G>C p.K266N Missense 5/6 - 1
12-4737274-C-A c.794G>T p.R265I Missense 5/6 - 1
12-4737274-C-G c.794G>C p.R265T Missense 5/6 - 1
12-4737275-T-C c.793A>G p.R265G Missense 5/6 - 1
12-4737278-C-T c.790G>A p.E264K Missense 5/6 - 4
12-4737279-C-A c.789G>T p.R263= Synonymous 5/6 - 1
12-4737279-C-G c.789G>C p.R263= Synonymous 5/6 - 1
12-4737279-C-T c.789G>A p.R263= Synonymous 5/6 - 1
12-4737281-G-A c.787C>T p.R263W Missense 5/6 - 3
12-4737281-G-T c.787C>A p.R263= Synonymous 5/6 - 2
12-4737285-A-C c.783T>G p.F261L Missense 5/6 - 1
12-4737285-A-T c.783T>A p.F261L Missense 5/6 - 1
12-4737287-A-G c.781T>C p.F261L Missense 5/6 - 1
12-4737288-G-C c.780C>G p.F260L Missense 5/6 - 1
12-4737291-C-A c.777G>T p.R259S Missense 5/6 - 1
12-4737291-CCT-ATG c.775_777delinsCAT p.R259H Missense 5/6 - 1
12-4737291-C-G c.777G>C p.R259S Missense 5/6 - 1
12-4737292-C-T c.776G>A p.R259K Missense 5/6 - 1
12-4737295-C-T c.773G>A p.G258E Missense 5/6 - 1
12-4737298-C-T c.770G>A p.G257D Missense 5/6 - 1
12-4737300-C-A c.768G>T p.E256D Missense 5/6 - 1
12-4737300-C-G c.768G>C p.E256D Missense 5/6 - 2
12-4737303-T-C c.765A>G p.R255= Synonymous 5/6 - 1
12-4737304-C-A c.764G>T p.R255I Missense 5/6 - 4
12-4737304-C-T c.764G>A p.R255K Missense 5/6 - 2
12-4737305-T-C c.763A>G p.R255G Missense 5/6 - 1
12-4737313-T-C c.755A>G p.D252G Missense 5/6 - 1
12-4737316-C-T c.752G>A p.G251E Missense 5/6 - 3
12-4737317-C-A c.751G>T p.G251* Nonsense 5/6 - 1
12-4737317-C-G c.751G>C p.G251R Missense 5/6 - 3
12-4737317-C-T c.751G>A p.G251R Missense 5/6 - 3
12-4737318-A-G c.750T>C p.N250= Synonymous 5/6 - 17
12-4737318-A-T c.750T>A p.N250K Missense 5/6 - 9
12-4737319-T-C c.749A>G p.N250S Missense 5/6 - 1
12-4737322-C-A c.746G>T p.R249L Missense 5/6 - 1
12-4737322-C-T c.746G>A p.R249H Missense 5/6 - 1
12-4737323-G-A c.745C>T p.R249C Missense 5/6 - 3
12-4737325-G-A c.743C>T p.S248F Missense 5/6 - 4
12-4737329-C-G c.739G>C p.E247Q Missense 5/6 - 1
12-4737335-C-T c.733G>A p.V245M Missense 5/6 - 1
12-4737338-C-T c.730G>A p.E244K Missense 5/6 - 3
12-4737342-A-G c.726T>C p.Y242= Synonymous 5/6 - 1
12-4737344-A-C c.724T>G p.Y242D Missense 5/6 - 1
12-4737347-A-C c.721T>G p.F241V Missense 5/6 - 1
12-4737352-G-C c.716C>G p.S239C Missense 5/6 - 2
12-4737353-A-T c.715T>A p.S239T Missense 5/6 - 1
12-4737364-G-A c.704C>T p.P235L Missense 5/6 - 5
12-4737365-G-A c.703C>T p.P235S Missense 5/6 - 2
12-4737367-G-T c.701C>A p.P234H Missense 5/6 - 1
12-4737369-C-T c.699G>A p.K233= Synonymous 5/6 - 1
12-4737370-T-C c.698A>G p.K233R Missense 5/6 - 1
12-4737380-G-A c.688C>T p.P230S Missense 5/6 - 4
12-4737382-C-T c.686G>A p.G229D Missense 5/6 - 1
12-4737383-C-A c.685G>T p.G229C Missense 5/6 - 1
12-4737387-TCT-ATG c.679_681delinsCAT p.R227H Missense 5/6 - 1
12-4737392-C-T c.676G>A p.E226K Missense 5/6 - 2
12-4737393-T-C c.675A>G p.K225= Synonymous 5/6 - 1
12-4737397-G-C c.671C>G p.T224S Missense 5/6 - 1
12-4737404-C-T c.664G>A p.E222K Missense 5/6 - 9
12-4737408-G-A c.660C>T p.I220= Synonymous 5/6 - 3
12-4737409-A-C c.659T>G p.I220S Missense 5/6 - 1
12-4737409-A-T c.659T>A p.I220N Missense 5/6 - 1
12-4737410-T-C c.658A>G p.I220V Missense 5/6 - 1
12-4737420-G-A c.648C>T p.S216= Synonymous 5/6 - 1
12-4737429-T-A c.639A>T p.K213N Missense 5/6 - 1
12-4737429-T-G c.639A>C p.K213N Missense 5/6 - 1
12-4737430-T-G c.638A>C p.K213T Missense 5/6 - 1
12-4737437-T-G c.631A>C p.N211H Missense 5/6 - 1
12-4737439-G-C c.629C>G p.P210R Missense 5/6 - 2
12-4737442-G-A c.626C>T p.P209L Missense 5/6 - 1
12-4737456-T-A c.612A>T p.G204= Synonymous 5/6 - 1
12-4737459-C-A c.609G>T p.S203= Synonymous 5/6 - 9
12-4737459-C-G c.609G>C p.S203= Synonymous 5/6 - 1
12-4737459-CGA-GTT c.607_609delinsAAC p.S203N Missense 5/6 - 1
12-4737459-C-T c.609G>A p.S203= Synonymous 5/6 - 21
12-4737464-C-T c.604G>A p.V202I Missense 5/6 - 2
12-4737466-C-T c.602G>A p.R201K Missense 5/6 - 1
12-4737467-T-G c.601A>C p.R201= Synonymous 5/6 - 1
12-4737474-A-C c.594T>G p.S198= Synonymous 5/6 - 1
12-4737474-A-G c.594T>C p.S198= Synonymous 5/6 - 2
12-4737474-A-T c.594T>A p.S198= Synonymous 5/6 - 1
12-4737475-G-A c.593C>T p.S198F Missense 5/6 - 2
12-4737478-C-T c.590G>A p.G197D Missense 5/6 - 1
12-4737487-T-A c.581A>T p.K194M Missense 5/6 - 1
12-4737488-T-C c.580A>G p.K194E Missense 5/6 - 1
12-4737493-G-T c.575C>A p.P192Q Missense 5/6 - 1
12-4737494-G-A c.574C>T p.P192S Missense 5/6 - 1
12-4737496-G-A c.572C>T p.A191V Missense 5/6 - 2
12-4737505-C-T c.563G>A p.R188K Missense 5/6 - 1
12-4737510-A-G c.558T>C p.C186= Synonymous 5/6 - 4
12-4737515-C-G c.553G>C p.A185P Missense 5/6 - 1
12-4737515-C-T c.553G>A p.A185T Missense 5/6 - 1
12-4737517-G-A c.551C>T p.S184F Missense 5/6 - 2
12-4737521-C-T c.547G>A p.V183I Missense 5/6 - 7
12-4737533-C-A c.535G>T p.V179L Missense 5/6 - 1
12-4737533-C-G c.535G>C p.V179L Missense 5/6 - 1
12-4737535-A-G c.533T>C p.L178P Missense 5/6 - 1
12-4737540-TGA-GTT c.526_528delinsAAC p.S176N Missense 5/6 - 1
12-4737545-C-T c.523G>A p.A175T Missense 5/6 - 1
12-4737552-A-G c.516T>C p.S172= Synonymous 5/6 - 1
12-4737557-G-A c.511C>T p.L171F Missense 5/6 - 1
12-4737560-T-TA c.507_508insT p.S170* Nonsense 5/6 - 2
12-4737561-T-A c.507A>T p.K169N Missense 5/6 - 2
12-4737561-T-G c.507A>C p.K169N Missense 5/6 - 2
12-4737562-T-G c.506A>C p.K169T Missense 5/6 - 2
12-4737559-CT-C c.508del p.S170Afs*5 Frameshift 5/6 - 1
12-4737566-T-G c.502A>C p.T168P Missense 5/6 - 2
12-4737578-C-T c.490G>A p.E164K Missense 5/6 - 2
12-4737587-T-C c.481A>G p.M161V Missense 5/6 - 1
12-4737592-A-G c.476T>C p.L159S Missense 5/6 - 1
12-4737595-G-C c.473C>G p.S158* Nonsense 5/6 - 2
12-4737598-T-C c.470A>G p.Q157R Missense 5/6 - 1
12-4737602-A-T c.466T>A p.Y156N Missense 5/6 - 1
12-4737603-G-T c.465C>A p.V155= Synonymous 5/6 - 1
12-4737604-A-G c.464T>C p.V155A Missense 5/6 - 1
12-4737605-C-G c.463G>C p.V155L Missense 5/6 - 1
12-4737605-C-T c.463G>A p.V155I Missense 5/6 - 1
12-4737609-T-A c.459A>T p.K153N Missense 5/6 - 5
12-4737609-T-G c.459A>C p.K153N Missense 5/6 - 1
12-4737612-G-C c.456C>G p.N152K Missense 5/6 - 5
12-4737612-G-T c.456C>A p.N152K Missense 5/6 - 2
12-4737621-G-A c.447C>T p.G149= Synonymous 5/6 - 1
12-4737621-G-C c.447C>G p.G149= Synonymous 5/6 - 1
12-4737621-G-T c.447C>A p.G149= Synonymous 5/6 - 1
12-4737624-ATC-TTA c.442_444delinsTAA p.D148* Nonsense 5/6 - 1
12-4737626-C-T c.442G>A p.D148N Missense 5/6 - 4
12-4737627-G-A c.441C>T p.I147= Synonymous 5/6 - 2
12-4737627-G-T c.441C>A p.I147= Synonymous 5/6 - 2
12-4737630-C-A c.438G>T p.K146N Missense 5/6 - 1
12-4737630-C-G c.438G>C p.K146N Missense 5/6 - 1
12-4737635-C-T c.433G>A p.E145K Missense 5/6 - 1
12-4737644-C-T c.424G>A p.E142K Missense 5/6 - 1
12-4737648-GCG-CCA c.418_420delinsTGG p.R140W Missense 5/6 - 1
12-4737648-G-GC c.419dup p.K141Qfs*5 Frameshift 5/6 - 1
12-4737649-C-A c.419G>T p.R140L Missense 5/6 - 1
12-4737649-C-T c.419G>A p.R140H Missense 5/6 - 3
12-4737650-G-A c.418C>T p.R140C Missense 5/6 - 1
12-4737654-C-A c.414G>T p.M138I Missense 5/6 - 1
12-4737658-G-A c.410C>T p.A137V Missense 5/6 - 1
12-4737669-A-C c.399T>G p.N133K Missense 5/6 - 1
12-4737669-A-T c.399T>A p.N133K Missense 5/6 - 1
12-4737670-T-C c.398A>G p.N133S Missense 5/6 - 1
12-4737672-C-T c.396G>A p.T132= Synonymous 5/6 - 2
12-4737678-GCG-TCA c.388_390delinsTGA p.R130* Nonsense 5/6 - 1
12-4737679-C-T c.389G>A p.R130H Missense 5/6 - 4
12-4737680-G-A c.388C>T p.R130C Missense 5/6 - 1
12-4737686-C-T c.382G>A p.A128T Missense 5/6 - 1
12-4737687-A-G c.381T>C p.Y127= Synonymous 5/6 - 1
12-4737690-G-A c.378C>T p.F126= Synonymous 5/6 - 1
12-4737693-GG-TT c.374_375delinsAA p.S125* Nonsense 5/6 - 1
12-4737694-G-A c.374C>T p.S125F Missense 5/6 - 4
12-4737698-C-T c.370G>A p.V124I Missense 5/6 - 1
12-4737701-C-A c.367G>T p.E123* Nonsense 5/6 - 1
12-4737703-T-A c.365A>T p.D122V Missense 5/6 - 1
12-4737708-T-C c.360A>G p.S120= Synonymous 5/6 - 1
12-4737708-T-G c.360A>C p.S120= Synonymous 5/6 - 1
12-4737709-G-C c.359C>G p.S120* Nonsense 5/6 - 3
12-4737712-C-T c.356G>A p.S119N Missense 5/6 - 1
12-4737714-C-A c.354G>T p.G118= Synonymous 5/6 - 3
12-4737714-C-G c.354G>C p.G118= Synonymous 5/6 - 3
12-4737714-C-T c.354G>A p.G118= Synonymous 5/6 - 3
12-4737715-CC-TG c.352_353delinsCA p.G118Q Missense 5/6 - 1
12-4737715-C-T c.353G>A p.G118E Missense 5/6 - 34
12-4737716-C-G c.352G>C p.G118R Missense 5/6 - 6
12-4737716-C-T c.352G>A p.G118R Missense 5/6 - 4
12-4737717-G-A c.351C>T p.N117= Synonymous 5/6 - 3
12-4737718-T-C c.350A>G p.N117S Missense 5/6 - 2
12-4737721-C-T c.347G>A p.G116D Missense 5/6 - 2
12-4737731-C-T c.337G>A p.A113T Missense 5/6 - 1
12-4737732-C-A c.336G>T p.R112S Missense 5/6 - 2
12-4737732-C-G c.336G>C p.R112S Missense 5/6 - 2
12-4737733-CT-TA c.334_335delinsTA p.R112* Nonsense 5/6 - 1
12-4737737-G-C c.331C>G p.P111A Missense 5/6 - 1
12-4737738-G-A c.330C>T p.G110= Synonymous 5/6 - 1
12-4737738-G-C c.330C>G p.G110= Synonymous 5/6 - 2
12-4737738-G-T c.330C>A p.G110= Synonymous 5/6 - 1
12-4737743-G-A c.325C>T p.Q109* Nonsense 5/6 - 1
12-4737743-G-C c.325C>G p.Q109E Missense 5/6 - 1
12-4737745-C-A c.323G>T p.C108F Missense 5/6 - 2
12-4737748-G-A c.320C>T p.P107L Missense 5/6 - 2
12-4737752-T-C c.316A>G p.I106V Missense 5/6 - 2
12-4737764-T-C c.304A>G p.T102A Missense 5/6 - 2
12-4737768-C-A c.300G>T p.E100D Missense 5/6 - 2
12-4737771-A-G c.297T>C p.F99= Synonymous 5/6 - 1
12-4737774-AT-GC c.293_294delinsGC p.H98R Missense 5/6 - 1
12-4737775-T-A c.293A>T p.H98L Missense 5/6 - 1
12-4737779-A-G c.289T>C p.L97= Synonymous 5/6 - 1
12-4737780-T-C c.288A>G p.R96= Synonymous 5/6 - 1
12-4737784-T-A c.284A>T p.E95V Missense 5/6 - 1
12-4737785-C-T c.283G>A p.E95K Missense 5/6 - 1
12-4737793-C-T c.275G>A p.G92D Missense 5/6 - 2
12-4737795-C-A c.273G>T p.K91N Missense 5/6 - 1
12-4737795-C-G c.273G>C p.K91N Missense 5/6 - 1
12-4737808-T-G c.260A>C p.N87T Missense 5/6 - 4
12-4737811-T-C c.257A>G p.Y86C Missense 5/6 - 1
12-4737812-A-C c.256T>G p.Y86D Missense 5/6 - 1
12-4737813-A-C c.255T>G p.Y85* Nonsense 5/6 - 2
12-4737813-A-T c.255T>A p.Y85* Nonsense 5/6 - 2
12-4737820-A-G c.248T>C p.V83A Missense 5/6 - 1
12-4737823-G-A c.245C>T p.S82F Missense 5/6 - 1
12-4737825-G-T c.243C>A p.F81L Missense 5/6 - 4
12-4737825-G-C c.243C>G p.F81L Missense 5/6 - 1
12-4737827-A-G c.241T>C p.F81L Missense 5/6 - 1
12-4737828-A-C c.240T>G p.G80= Synonymous 5/6 - 1
12-4737828-AC-CT c.239_240delinsAG p.G80E Missense 5/6 - 1
12-4737828-A-G c.240T>C p.G80= Synonymous 5/6 - 1
12-4737828-A-T c.240T>A p.G80= Synonymous 5/6 - 1
12-4737831-T-A c.237A>T p.K79N Missense 5/6 - 1
12-4737831-T-G c.237A>C p.K79N Missense 5/6 - 1
12-4737838-G-A c.230C>T p.P77L Missense 5/6 - 1
12-4737839-G-A c.229C>T p.P77S Missense 5/6 - 1
12-4737844-C-G c.224G>C p.G75A Missense 5/6 - 2
12-4737844-C-T c.224G>A p.G75E Missense 5/6 - 1
12-4737847-G-A c.221C>T p.S74L Missense 5/6 - 1
12-4737852-G-A c.216C>T p.S72= Synonymous 5/6 - 3
12-4737855-C-G c.213G>C p.T71= Synonymous 5/6 - 1
12-4737855-C-T c.213G>A p.T71= Synonymous 5/6 - 1
12-4737860-C-T c.208G>A p.E70K Missense 5/6 - 2
12-4737861-CC-GT c.206_207delinsAC p.G69D Missense 5/6 - 1
12-4737861-C-T c.207G>A p.G69= Synonymous 5/6 - 1
12-4737862-C-A c.206G>T p.G69V Missense 5/6 - 1
12-4737862-C-T c.206G>A p.G69E Missense 5/6 - 3
12-4737863-C-A c.205G>T p.G69W Missense 5/6 - 1
12-4737864-A-C c.204T>G p.G68= Synonymous 5/6 - 1
12-4737864-A-G c.204T>C p.G68= Synonymous 5/6 - 1
12-4737864-A-T c.204T>A p.G68= Synonymous 5/6 - 1
12-4737871-G-A c.197C>T p.S66L Missense 5/6 - 2
12-4737875-C-A c.193G>T p.E65* Nonsense 5/6 - 2
12-4737875-C-T c.193G>A p.E65K Missense 5/6 - 2
12-4737885-G-C c.183C>G p.F61L Missense 5/6 - 1
12-4737887-A-G c.181T>C p.F61L Missense 5/6 - 1
12-4737889-C-A c.179G>T p.R60L Missense 5/6 - 1
12-4737889-C-T c.179G>A p.R60Q Missense 5/6 - 6
12-4737890-G-A c.178C>T p.R60W Missense 5/6 - 4
12-4737890-G-C c.178C>G p.R60G Missense 5/6 - 3
12-4737890-G-T c.178C>A p.R60= Synonymous 5/6 - 3
12-4737900-G-A c.168C>T p.F56= Synonymous 5/6 - 2
12-4737902-A-G c.166T>C p.F56L Missense 5/6 - 1
12-4737905-C-T c.163G>A p.E55K Missense 5/6 - 2
12-4737906-TG-GT c.161_162delinsAC p.A54D Missense 5/6 - 1
12-4737910-G-A c.158C>T p.T53I Missense 5/6 - 2
12-4737910-G-T c.158C>A p.T53K Missense 5/6 - 1
12-4737915-C-T c.153G>A p.K51= Synonymous 5/6 - 2
12-4737917-T-A c.151A>T p.K51* Nonsense 5/6 - 1
12-4737918-C-A c.150G>T p.E50D Missense 5/6 - 1
12-4737918-C-G c.150G>C p.E50D Missense 5/6 - 1
12-4737920-C-T c.148G>A p.E50K Missense 5/6 - 1
12-4737923-G-C c.145C>G p.L49V Missense 5/6 - 1
12-4737923-G-T c.145C>A p.L49M Missense 5/6 - 1
12-4737926-C-T c.142G>A p.D48N Missense 5/6 - 1
12-4737931-C-T c.137G>A p.R46H Missense 5/6 - 1
12-4737932-G-C c.136C>G p.R46G Missense 5/6 - 1
12-4737936-C-T c.132G>A p.W44* Nonsense 5/6 - 1
12-4737937-C-T c.131G>A p.W44* Nonsense 5/6 - 2
12-4737944-G-A c.124C>T p.L42F Missense 5/6 - 1
12-4737945-C-A c.123G>T p.V41= Synonymous 5/6 - 1
12-4737945-C-G c.123G>C p.V41= Synonymous 5/6 - 1
12-4737945-C-T c.123G>A p.V41= Synonymous 5/6 - 1
12-4737948-T-C c.120A>G p.R40= Synonymous 5/6 - 1
12-4737949-C-T c.119G>A p.R40K Missense 5/6 - 2
12-4737956-G-A c.112C>T p.P38S Missense 5/6 - 3
12-4737961-G-A c.107C>T p.T36M Missense 5/6 - 1
12-4737964-G-C c.104C>G p.S35C Missense 5/6 - 1
12-4737964-G-T c.104C>A p.S35Y Missense 5/6 - 3
12-4738181-C-T c.97-210G>A - IntronicSNV - 4/5 2
12-4740296-T-C c.97-2325A>G - IntronicSNV - 4/5 2
12-4740324-G-A c.97-2353C>T - IntronicSNV - 4/5 1
12-4740324-G-C c.97-2353C>G - IntronicSNV - 4/5 1
12-4740515-A-C c.97-2544T>G - IntronicSNV - 4/5 2
12-4740515-A-T c.97-2544T>A - IntronicSNV - 4/5 2
12-4740690-C-T c.97-2719G>A - IntronicSNV - 4/5 1
12-4740755-A-G c.97-2784T>C - IntronicSNV - 4/5 1
12-4744150-A-AT c.96+3116dup - IntronicInsertion - 4/5 1
12-4744506-G-C c.96+2761C>G - IntronicSNV - 4/5 1
12-4744637-C-CA c.96+2629dup - IntronicInsertion - 4/5 1
12-4744659-G-GT c.96+2607dup - IntronicInsertion - 4/5 2
12-4744818-T-A c.96+2449A>T - IntronicSNV - 4/5 1
12-4744934-T-C c.96+2333A>G - IntronicSNV - 4/5 1
12-4745170-G-A c.96+2097C>T - IntronicSNV - 4/5 1
12-4745193-T-C c.96+2074A>G - IntronicSNV - 4/5 1
12-4745313-C-A c.96+1954G>T - IntronicSNV - 4/5 1
12-4745313-C-T c.96+1954G>A - IntronicSNV - 4/5 1
12-4747267-C-A c.96G>T p.M32I Missense 4/6 - 1
12-4747267-C-G c.96G>C p.M32I Missense 4/6 - 1
12-4747267-C-T c.96G>A p.M32I Missense 4/6 - 1
12-4747273-C-T c.90G>A p.W30* Nonsense 4/6 - 1
12-4747274-C-T c.89G>A p.W30* Nonsense 4/6 - 6
12-4747281-G-A c.82C>T p.Q28* Nonsense 4/6 - 3
12-4747282-G-A c.81C>T p.A27= Synonymous 4/6 - 1
12-4747282-G-C c.81C>G p.A27= Synonymous 4/6 - 1
12-4747282-G-T c.81C>A p.A27= Synonymous 4/6 - 1
12-4747283-G-C c.80C>G p.A27G Missense 4/6 - 2
12-4747291-G-A c.72C>T p.D24= Synonymous 4/6 - 1
12-4747292-T-A c.71A>T p.D24V Missense 4/6 - 1
12-4747298-G-C c.65C>G p.P22R Missense 4/6 - 1
12-4747299-G-A c.64C>T p.P22S Missense 4/6 - 3
12-4747301-G-A c.62C>T p.S21F Missense 4/6 - 1
12-4747304-T-C c.59A>G p.Y20C Missense 4/6 - 1
12-4747313-A-C c.50T>G p.V17G Missense 4/6 - 1
12-4747319-C-T c.44G>A p.C15Y Missense 4/6 - 2
12-4747323-C-T c.40G>A p.V14I Missense 4/6 - 2
12-4747326-C-A c.37G>T p.G13* Nonsense 4/6 - 4
12-4747326-C-G c.37G>C p.G13R Missense 4/6 - 2
12-4747326-C-T c.37G>A p.G13R Missense 4/6 - 3
12-4747328-T-C c.35A>G p.N12S Missense 4/6 - 1
12-4747334-CT-GC c.28_29delinsGC p.S10A Missense 4/6 - 2
12-4747338-G-T c.25C>A p.Q9K Missense 4/6 - 1
12-4747341-A-G c.22T>C p.L8= Synonymous 4/6 - 1
12-4747356-C-T c.7G>A p.E3K Missense 4/6 - 1
12-4747357-T-C c.6A>G p.S2= Synonymous 4/6 - 1
12-4747358-G-A c.5C>T p.S2L Missense 4/6 - 1
12-4747358-G-C c.5C>G p.S2* Nonsense 4/6 - 1
12-4747358-G-T c.5C>A p.S2* Nonsense 4/6 - 1
12-4748545-A-T c.1-1183T>A - IntronicSNV - 3/5 1
12-4757896-T-C c.-245+15A>G - intron_variant - 1/5 1
12-4758188-G-C c.-522C>G - 5_prime_UTR_variant 1/6 - 13