APP amyloid beta precursor protein

Annotation transcript: NM_000484.4

831 unique variant annotations were identified in 1646 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
21-27253014-C-A c.*967G>T - 3-UTRSNV 18/18 - 1
21-27253014-C-T c.*967G>A - 3-UTRSNV 18/18 - 1
21-27253044-C-T c.*937G>A - 3-UTRSNV 18/18 - 1
21-27253067-C-T c.*914G>A - 3-UTRSNV 18/18 - 1
21-27253148-T-C c.*833A>G - 3-UTRSNV 18/18 - 1
21-27253148-T-G c.*833A>C - 3-UTRSNV 18/18 - 1
21-27253609-T-C c.*372A>G - 3-UTRSNV 18/18 - 1
21-27253963-G-A c.*18C>T - 3-UTRSNV 18/18 - 1
21-27253980-T-G c.*1A>C - 3-UTRSNV 18/18 - 1
21-27254000-AA-CC c.2293_2294delinsGG p.F765G Missense 18/18 - 1
21-27254000-AA-GC c.2293_2294delinsGC p.F765A Missense 18/18 - 1
21-27254003-AA-CC c.2290_2291delinsGG p.F764G Missense 18/18 - 1
21-27254003-AA-GC c.2290_2291delinsGC p.F764A Missense 18/18 - 1
21-27254006-T-C c.2288A>G p.K763R Missense 18/18 - 1
21-27254006-TT-CC c.2287_2288delinsGG p.K763G Missense 18/18 - 1
21-27254006-TT-GC c.2287_2288delinsGC p.K763A Missense 18/18 - 1
21-27254008-GTA-CTT c.2284_2286delinsAAG p.Y762K Missense 18/18 - 1
21-27254008-GT-CC c.2285_2286delinsGG p.Y762W Missense 18/18 - 1
21-27254009-T-A c.2285A>T p.Y762F Missense 18/18 - 1
21-27254013-T-C c.2281A>G p.T761A Missense 18/18 - 1
21-27254015-GG-CC c.2278_2279inv p.P760G Missense 18/18 - 1
21-27254016-G-C c.2278C>G p.P760A Missense 18/18 - 1
21-27254017-ATT-TTG c.2275_2277delinsCAA p.N759Q Missense 18/18 - 1
21-27254018-TT-GC c.2275_2276delinsGC p.N759A Missense 18/18 - 1
21-27254017-AT-A c.2276del p.N759Ifs*37 Frameshift 18/18 - 1
21-27254024-T-A c.2270A>T p.Y757F Missense 18/18 - 1
21-27254024-TA-GC c.2269_2270delinsGC p.Y757A Missense 18/18 - 2
21-27254036-CT-C c.2258del p.Q753Rfs*43 Frameshift 18/18 - 1
21-27254042-T-C c.2252A>G p.K751R Missense 18/18 - 1
21-27254045-G-C c.2249C>G p.S750C Missense 18/18 - 1
21-27254054-C-G c.2240G>C p.R747P Missense 18/18 - 1
21-27254054-C-T c.2240G>A p.R747H Missense 18/18 - 1
21-27254055-G-A c.2239C>T p.R747C Missense 18/18 - 1
21-27254061-C-G c.2233G>C p.E745Q Missense 18/18 - 1
21-27254073-C-A c.2221G>T p.A741S Missense 18/18 - 2
21-27254082-C-T c.2212G>A p.V738I Missense 18/18 - 1
21-27254092-A-C c.2212-10T>G - IntronicSNV - 17/17 1
21-27254092-A-G c.2212-10T>C - IntronicSNV - 17/17 1
21-27254279-C-G c.2212-197G>C - IntronicSNV - 17/17 2
21-27255117-A-C c.2212-1035T>G - IntronicSNV - 17/17 1
21-27255117-A-G c.2212-1035T>C - IntronicSNV - 17/17 1
21-27257660-C-A c.2212-3578G>T - IntronicSNV - 17/17 1
21-27257660-C-G c.2212-3578G>C - IntronicSNV - 17/17 1
21-27260014-C-T c.2211+4020G>A - IntronicSNV - 17/17 1
21-27260456-A-G c.2211+3578T>C - IntronicSNV - 17/17 1
21-27260456-A-T c.2211+3578T>A - IntronicSNV - 17/17 1
21-27264047-T-G c.2198A>C p.H733P Missense 17/18 - 3
21-27264050-TG-CA c.2194_2195inv p.H732C Missense 17/18 - 2
21-27264056-G-C c.2189C>G p.S730C Missense 17/18 - 2
21-27264058-TGT-ACA c.2185_2187inv p.T729C Missense 17/18 - 2
21-27264068-T-C c.2177A>G p.K726R Missense 17/18 - 1
21-27264071-T-C c.2174A>G p.K725R Missense 17/18 - 1
21-27264073-C-A c.2172G>T p.K724N Missense 17/18 - 15
21-27264073-C-G c.2172G>C p.K724N Missense 17/18 - 20
21-27264074-T-A c.2171A>T p.K724M Missense 17/18 - 3
21-27264074-T-C c.2171A>G p.K724R Missense 17/18 - 1
21-27264076-CAG-ACA c.2167_2169delinsTGT p.L723C Missense 17/18 - 1
21-27264077-A-C c.2168T>G p.L723R Missense 17/18 - 2
21-27264077-A-G c.2168T>C p.L723P Missense 17/18 - 26
21-27264077-AG-GC c.2167_2168delinsGC p.L723A Missense 17/18 - 1
21-27264080-A-T c.2165T>A p.M722K Missense 17/18 - 7
21-27264083-AC-TT c.2161_2162delinsAA p.V721K Missense 17/18 - 2
21-27264086-AA-GG c.2158_2159delinsCC p.L720P Missense 17/18 - 3
21-27264086-A-G c.2159T>C p.L720S Missense 17/18 - 6
21-27264089-G-T c.2156C>A p.T719N Missense 17/18 - 6
21-27264090-T-G c.2155A>C p.T719P Missense 17/18 - 8
21-27264093-T-G c.2152A>C p.I718L Missense 17/18 - 5
21-27264094-G-A c.2151C>T p.V717= Synonymous 17/18 - 1
21-27264094-GAC-CCA c.2149_2151delinsTGG p.V717W Missense 17/18 - 1
21-27264094-GAC-CTT c.2149_2151delinsAAG p.V717K Missense 17/18 - 1
21-27264094-G-C c.2151C>G p.V717= Synonymous 17/18 - 1
21-27264094-G-T c.2151C>A p.V717= Synonymous 17/18 - 1
21-27264095-A-C c.2150T>G p.V717G Missense 17/18 - 35
21-27264095-AC-CG c.2149_2150delinsCG p.V717R Missense 17/18 - 1
21-27264095-A-G c.2150T>C p.V717A Missense 17/18 - 3
21-27264096-C-A c.2149G>T p.V717F Missense 17/18 - 788
21-27264096-C-G c.2149G>C p.V717L Missense 17/18 - 78
21-27264096-C-T c.2149G>A p.V717I Missense 17/18 - 867
21-27264097-G-C c.2148C>G p.I716M Missense 17/18 - 4
21-27264098-A-G c.2147T>C p.I716T Missense 17/18 - 15
21-27264099-T-A c.2146A>T p.I716F Missense 17/18 - 77
21-27264099-T-C c.2146A>G p.I716V Missense 17/18 - 427
21-27264100-CAC-AAA c.2143_2145delinsTTT p.V715F Missense 17/18 - 6
21-27264100-CAC-GAT c.2143_2145delinsATC p.V715I Missense 17/18 - 2
21-27264101-A-G c.2144T>C p.V715A Missense 17/18 - 16
21-27264102-C-T c.2143G>A p.V715M Missense 17/18 - 35
21-27264104-G-A c.2141C>T p.T714I Missense 17/18 - 52
21-27264104-GT-AG c.2140_2141delinsCT p.T714L Missense 17/18 - 1
21-27264105-T-C c.2140A>G p.T714A Missense 17/18 - 16
21-27264106-CGC-AAA c.2137_2139delinsTTT p.A713F Missense 17/18 - 1
21-27264106-CGC-ACA c.2137_2139delinsTGT p.A713C Missense 17/18 - 1
21-27264107-G-A c.2138C>T p.A713V Missense 17/18 - 5
21-27264108-C-T c.2137G>A p.A713T Missense 17/18 - 43
21-27264114-C-A c.2131G>T p.V711F Missense 17/18 - 1
21-27264116-A-C c.2129T>G p.V710G Missense 17/18 - 6
21-27264119-CC-AA c.2125_2126delinsTT p.G709F Missense 17/18 - 1
21-27264120-C-A c.2125G>T p.G709C Missense 17/18 - 1
21-27264120-C-T c.2125G>A p.G709S Missense 17/18 - 7
21-27264121-G-A c.2124C>T p.G708= Synonymous 17/18 - 5
21-27264121-G-C c.2124C>G p.G708= Synonymous 17/18 - 4
21-27264121-G-T c.2124C>A p.G708= Synonymous 17/18 - 4
21-27264122-CC-AG c.2122_2123delinsCT p.G708L Missense 17/18 - 1
21-27264123-C-A c.2122G>T p.G708C Missense 17/18 - 1
21-27264124-CAC-AAA c.2119_2121delinsTTT p.V707F Missense 17/18 - 1
21-27264124-CAC-GAT c.2119_2121delinsATC p.V707I Missense 17/18 - 1
21-27264130-G-A c.2115C>T p.L705= Synonymous 17/18 - 1
21-27264131-AG-CA c.2113_2114delinsTG p.L705C Missense 17/18 - 1
21-27264132-G-C c.2113C>G p.L705V Missense 17/18 - 10
21-27264133-TCC-ACA c.2110_2112delinsTGT p.G704C Missense 17/18 - 1
21-27264134-CC-AG c.2110_2111delinsCT p.G704L Missense 17/18 - 3
21-27264137-AT-CA c.2107_2108delinsTG p.I703C Missense 17/18 - 1
21-27264137-AT-GC c.2107_2108delinsGC p.I703A Missense 17/18 - 2
21-27264138-T-A c.2107A>T p.I703F Missense 17/18 - 1
21-27264140-AT-CA c.2104_2105delinsTG p.I702C Missense 17/18 - 1
21-27264141-T-A c.2104A>T p.I702F Missense 17/18 - 1
21-27264142-TGC-AAA c.2101_2103delinsTTT p.A701F Missense 17/18 - 1
21-27264145-ACC-CCA c.2098_2100delinsTGG p.G700W Missense 17/18 - 1
21-27264146-CC-AA c.2098_2099delinsTT p.G700F Missense 17/18 - 1
21-27264146-CC-AG c.2098_2099delinsCT p.G700L Missense 17/18 - 2
21-27264146-C-G c.2099G>C p.G700A Missense 17/18 - 3
21-27264147-C-A c.2098G>T p.G700C Missense 17/18 - 2
21-27264148-TTT-ACA c.2095_2097delinsTGT p.K699C Missense 17/18 - 1
21-27264147-C-CT c.2097dup p.G700Rfs*40 Frameshift 17/18 - 1
21-27264150-T-C c.2095A>G p.K699E Missense 17/18 - 1
21-27264154-TG-AC c.2090_2091delinsGT p.S697C Missense 17/18 - 1
21-27264160-CAC-ACA c.2083_2085delinsTGT p.V695C Missense 17/18 - 2
21-27264162-C-T c.2083G>A p.V695M Missense 17/18 - 1
21-27264165-C-T c.2080G>A p.D694N Missense 17/18 - 108
21-27264166-T-A c.2079A>T p.E693D Missense 17/18 - 9
21-27264166-T-G c.2079A>C p.E693D Missense 17/18 - 9
21-27264166-TTC-ACA c.2077_2079delinsTGT p.E693C Missense 17/18 - 1
21-27264166-TTC-GTT c.2077_2079delinsAAC p.E693N Missense 17/18 - 1
21-27264163-ATCT-A c.2079_2081del p.E693del InFrameDeletion 17/18 - 16
21-27264167-T-A c.2078A>T p.E693V Missense 17/18 - 1
21-27264167-T-C c.2078A>G p.E693G Missense 17/18 - 198
21-27264167-TC-GG c.2077_2078delinsCC p.E693P Missense 17/18 - 1
21-27264167-T-G c.2078A>C p.E693A Missense 17/18 - 4
21-27264168-C-G c.2077G>C p.E693Q Missense 17/18 - 207
21-27264168-C-T c.2077G>A p.E693K Missense 17/18 - 42
21-27264170-G-C c.2075C>G p.A692G Missense 17/18 - 51
21-27264173-AA-GC c.2071_2072delinsGC p.F691A Missense 17/18 - 2
21-27264176-AA-GC c.2068_2069delinsGC p.F690A Missense 17/18 - 1
21-27264176-AA-GG c.2068_2069delinsCC p.F690P Missense 17/18 - 2
21-27264176-A-G c.2069T>C p.F690S Missense 17/18 - 1
21-27264180-C-A c.2065G>T p.V689L Missense 17/18 - 1
21-27265707-G-A c.2065-1527C>T - IntronicSNV - 16/17 1
21-27266763-C-G c.2065-2583G>C - IntronicSNV - 16/17 2
21-27266763-C-T c.2065-2583G>A - IntronicSNV - 16/17 2
21-27269887-A-C c.2062T>G p.L688V Missense 16/18 - 1
21-27269888-T-A c.2061A>T p.K687N Missense 16/18 - 12
21-27269888-T-G c.2061A>C p.K687N Missense 16/18 - 12
21-27269890-T-G c.2059A>C p.K687Q Missense 16/18 - 2
21-27269891-TTG-ACA c.2056_2058delinsTGT p.Q686C Missense 16/18 - 1
21-27269898-T-C c.2051A>G p.H684R Missense 16/18 - 1
21-27269903-TTC-GTT c.2044_2046delinsAAC p.E682N Missense 16/18 - 1
21-27269904-T-A c.2045A>T p.E682V Missense 16/18 - 1
21-27269904-T-G c.2045A>C p.E682A Missense 16/18 - 1
21-27269905-C-T c.2044G>A p.E682K Missense 16/18 - 22
21-27269907-TA-GC c.2041_2042delinsGC p.Y681A Missense 16/18 - 1
21-27269915-G-A c.2034C>T p.D678= Synonymous 16/18 - 1
21-27269917-C-G c.2032G>C p.D678H Missense 16/18 - 29
21-27269917-C-T c.2032G>A p.D678N Missense 16/18 - 20
21-27269919-T-C c.2030A>G p.H677R Missense 16/18 - 8
21-27269925-A-C c.2024T>G p.F675C Missense 16/18 - 1
21-27269928-T-C c.2021A>G p.E674G Missense 16/18 - 1
21-27269929-C-T c.2020G>A p.E674K Missense 16/18 - 5
21-27269931-G-A c.2018C>T p.A673V Missense 16/18 - 98
21-27269931-GC-AG c.2017_2018delinsCT p.A673L Missense 16/18 - 1
21-27269932-C-T c.2017G>A p.A673T Missense 16/18 - 241
21-27269936-CA-GT c.2012_2013delinsAC p.M671N Missense 16/18 - 4
21-27269938-T-A c.2011A>T p.M671L Missense 16/18 - 541
21-27269938-T-C c.2011A>G p.M671V Missense 16/18 - 6
21-27269938-T-G c.2011A>C p.M671L Missense 16/18 - 541
21-27269939-C-A c.2010G>T p.K670N Missense 16/18 - 1188
21-27269939-C-G c.2010G>C p.K670N Missense 16/18 - 1188
21-27269939-CTT-GTC c.2008_2010delinsGAC p.K670D Missense 16/18 - 1
21-27269940-T-A c.2009A>T p.K670M Missense 16/18 - 170
21-27269940-T-C c.2009A>G p.K670R Missense 16/18 - 2
21-27269940-TT-AG c.2008_2009delinsCT p.K670L Missense 16/18 - 5
21-27269944-C-A c.2005G>T p.V669L Missense 16/18 - 3
21-27269944-C-G c.2005G>C p.V669L Missense 16/18 - 4
21-27269954-C-A c.1995G>T p.E665D Missense 16/18 - 5
21-27269954-C-G c.1995G>C p.E665D Missense 16/18 - 5
21-27269953-TCTC-T c.1993_1995del p.E665del InFrameDeletion 16/18 - 1
21-27269960-C-A c.1989G>T p.T663= Synonymous 16/18 - 1
21-27269960-C-G c.1989G>C p.T663= Synonymous 16/18 - 1
21-27269960-CGT-ACA c.1987_1989delinsTGT p.T663C Missense 16/18 - 1
21-27269960-C-T c.1989G>A p.T663= Synonymous 16/18 - 1
21-27269961-G-A c.1988C>T p.T663M Missense 16/18 - 3
21-27269971-T-A c.1978A>T p.N660Y Missense 16/18 - 6
21-27269982-GA-TC c.1966_1967inv p.S656D Missense 16/18 - 1
21-27269983-A-C c.1966T>G p.S656A Missense 16/18 - 1
21-27272159-T-C c.1964-2174A>G - IntronicSNV - 15/17 4
21-27274089-T-G c.1963+3247A>C - IntronicSNV - 15/17 2
21-27277077-A-C c.1963+259T>G - IntronicSNV - 15/17 1
21-27277348-T-C c.1951A>G p.T651A Missense 15/18 - 1
21-27277372-G-A c.1927C>T p.R643C Missense 15/18 - 1
21-27277885-T-C c.1910-496A>G - IntronicSNV - 14/17 1
21-27279448-G-A c.1910-2059C>T - IntronicSNV - 14/17 1
21-27280038-C-A c.1910-2649G>T - IntronicSNV - 14/17 2
21-27280038-C-T c.1910-2649G>A - IntronicSNV - 14/17 2
21-27281177-A-G c.1909+2876T>C - IntronicSNV - 14/17 1
21-27284076-ACAGAGTCAGCCC-A c.1874_1885del p.G625_S628del InFrameDeletion 14/18 - 2
21-27284084-AG-CT c.1877_1878inv p.A626E Missense 14/18 - 1
21-27284087-CC-GT c.1874_1875delinsAC p.G625D Missense 14/18 - 1
21-27284088-CC-AG c.1873_1874delinsCT p.G625L Missense 14/18 - 1
21-27284088-CC-TT c.1873_1874delinsAA p.G625K Missense 14/18 - 1
21-27284088-C-G c.1874G>C p.G625A Missense 14/18 - 2
21-27284089-C-A c.1873G>T p.G625W Missense 14/18 - 1
21-27284100-C-CACTTTT c.1861_1862insAAAAGT p.P620_W621ins* InFrameInsertion 14/18 - 1
21-27284103-G-A c.1859C>T p.P620L Missense 14/18 - 7
21-27284104-G-A c.1858C>T p.P620S Missense 14/18 - 1
21-27284104-G-C c.1858C>G p.P620A Missense 14/18 - 5
21-27284122-T-C c.1840A>G p.S614G Missense 14/18 - 4
21-27284126-C-T c.1836G>A p.E612= Synonymous 14/18 - 1
21-27284130-C-G c.1832G>C p.G611A Missense 14/18 - 1
21-27284140-G-C c.1822C>G p.P608A Missense 14/18 - 1
21-27284152-C-T c.1810G>A p.V604M Missense 14/18 - 4
21-27284163-G-A c.1799C>T p.T600M Missense 14/18 - 4
21-27284167-C-T c.1795G>A p.E599K Missense 14/18 - 15
21-27284174-A-C c.1788T>G p.S596= Synonymous 14/18 - 1
21-27284211-G-C c.1751C>G p.P584R Missense 14/18 - 1
21-27284214-T-C c.1748A>G p.E583G Missense 14/18 - 1
21-27284223-CATGTT-C c.1735_1739del p.N579Dfs*2 Frameshift 14/18 - 1
21-27284230-C-G c.1732G>C p.A578P Missense 14/18 - 1
21-27284232-A-C c.1730T>G p.L577W Missense 14/18 - 1
21-27284236-C-T c.1726G>A p.V576I Missense 14/18 - 1
21-27284239-C-A c.1723G>T p.D575Y Missense 14/18 - 1
21-27284253-T-TG c.1708dup p.Q570Pfs*6 Frameshift 14/18 - 1
21-27284254-G-A c.1708C>T p.Q570* Nonsense 14/18 - 1
21-27284269-G-A c.1693C>T p.L565= Synonymous 14/18 - 1
21-27285105-T-A c.1688-831A>T - IntronicSNV - 13/17 1
21-27285105-T-G c.1688-831A>C - IntronicSNV - 13/17 1
21-27287924-G-A c.1688-3650C>T - IntronicSNV - 13/17 1
21-27287924-G-T c.1688-3650C>A - IntronicSNV - 13/17 1
21-27298769-A-G c.1688-14495T>C - IntronicSNV - 13/17 2
21-27304252-C-T c.1688-19978G>A - IntronicSNV - 13/17 1
21-27312487-A-G c.1687+14417T>C - IntronicSNV - 13/17 1
21-27314095-T-A c.1687+12809A>T - IntronicSNV - 13/17 1
21-27314945-C-T c.1687+11959G>A - IntronicSNV - 13/17 1
21-27315201-C-T c.1687+11703G>A - IntronicSNV - 13/17 1
21-27316874-G-A c.1687+10030C>T - IntronicSNV - 13/17 1
21-27319269-A-T c.1687+7635T>A - IntronicSNV - 13/17 1
21-27319934-C-G c.1687+6970G>C - IntronicSNV - 13/17 1
21-27321331-GAGA-G c.1687+5571_1687+5573del - IntronicDeletion - 13/17 1
21-27321921-A-G c.1687+4983T>C - IntronicSNV - 13/17 1
21-27323704-A-C c.1687+3200T>G - IntronicSNV - 13/17 1
21-27325288-G-A c.1687+1616C>T - IntronicSNV - 13/17 1
21-27326859-G-A c.1687+45C>T - IntronicSNV - 13/17 1
21-27326907-C-T c.1684G>A p.V562I Missense 13/18 - 4
21-27326936-G-C c.1655C>G p.P552R Missense 13/18 - 2
21-27326936-G-T c.1655C>A p.P552H Missense 13/18 - 1
21-27326943-T-C c.1648A>G p.N550D Missense 13/18 - 1
21-27326942-TTG-T c.1647_1648del p.Y549* Frameshift 13/18 - 1
21-27326958-G-C c.1633C>G p.L545V Missense 13/18 - 1
21-27326979-A-G c.1612T>C p.Y538H Missense 13/18 - 6
21-27326987-C-T c.1604G>A p.R535H Missense 13/18 - 1
21-27327862-G-C c.1587+79C>G - IntronicSNV - 12/17 1
21-27327943-G-A c.1585C>T p.Q529* Nonsense 12/18 - 1
21-27327946-A-C c.1582T>G p.S528A Missense 12/18 - 1
21-27327948-C-T c.1580G>A p.R527Q Missense 12/18 - 1
21-27327973-C-A c.1555G>T p.D519Y Missense 12/18 - 1
21-27327973-C-T c.1555G>A p.D519N Missense 12/18 - 1
21-27327975-A-G c.1553T>C p.V518A Missense 12/18 - 1
21-27327982-G-A c.1546C>T p.R516C Missense 12/18 - 1
21-27327998-C-A c.1530G>T p.K510N Missense 12/18 - 2
21-27327998-C-G c.1530G>C p.K510N Missense 12/18 - 2
21-27328025-TTC-ACA c.1501_1503delinsTGT p.E501C Missense 12/18 - 1
21-27328028-T-A c.1500A>T p.A500= Synonymous 12/18 - 1
21-27328028-T-C c.1500A>G p.A500= Synonymous 12/18 - 1
21-27328028-T-G c.1500A>C p.A500= Synonymous 12/18 - 1
21-27328030-C-T c.1498G>A p.A500T Missense 12/18 - 4
21-27328032-C-T c.1496G>A p.R499H Missense 12/18 - 1
21-27328033-G-A c.1495C>T p.R499C Missense 12/18 - 1
21-27328042-T-G c.1486A>C p.K496Q Missense 12/18 - 7
21-27328062-TG-GC c.1465_1466delinsGC p.H489A Missense 12/18 - 1
21-27328175-T-C c.1459-106A>G - IntronicSNV - 11/17 3
21-27330738-G-A c.1459-2669C>T - IntronicSNV - 11/17 1
21-27330738-G-C c.1459-2669C>G - IntronicSNV - 11/17 1
21-27330859-A-G c.1459-2790T>C - IntronicSNV - 11/17 1
21-27335022-A-G c.1459-6953T>C - IntronicSNV - 11/17 2
21-27336168-C-T c.1459-8099G>A - IntronicSNV - 11/17 1
21-27338259-T-G c.1458+9124A>C - IntronicSNV - 11/17 1
21-27338298-T-A c.1458+9085A>T - IntronicSNV - 11/17 1
21-27338298-T-C c.1458+9085A>G - IntronicSNV - 11/17 1
21-27343288-T-C c.1458+4095A>G - IntronicSNV - 11/17 2
21-27344189-A-C c.1458+3194T>G - IntronicSNV - 11/17 2
21-27347385-G-A c.1456C>T p.R486W Missense 11/18 - 1
21-27347391-G-A c.1450C>T p.P484S Missense 11/18 - 1
21-27347406-C-A c.1435G>T p.A479S Missense 11/18 - 3
21-27347423-AG-TC c.1417_1418delinsGA p.L473E Missense 11/18 - 1
21-27347438-C-T c.1403G>A p.R468H Missense 11/18 - 4
21-27347463-CTG-C c.1377_1378del p.R460Sfs*7 Frameshift 11/18 - 1
21-27347487-G-C c.1354C>G p.Q452E Missense 11/18 - 1
21-27347491-T-C c.1350A>G p.R450= Synonymous 11/18 - 1
21-27347493-T-G c.1348A>C p.R450= Synonymous 11/18 - 1
21-27347519-G-A c.1322C>T p.S441F Missense 11/18 - 1
21-27347528-TT-GC c.1312_1313delinsGC p.K438A Missense 11/18 - 1
21-27347536-G-A c.1305C>T p.F435= Synonymous 11/18 - 1
21-27348272-T-G c.1294A>C p.I432L Missense 10/18 - 1
21-27348286-T-A c.1280A>T p.D427V Missense 10/18 - 1
21-27348304-TT-GC c.1261_1262delinsGC p.K421A Missense 10/18 - 1
21-27348313-C-G c.1253G>C p.R418P Missense 10/18 - 1
21-27348313-CG-GC c.1252_1253delinsGC p.R418A Missense 10/18 - 1
21-27348313-C-T c.1253G>A p.R418H Missense 10/18 - 1
21-27348316-T-C c.1250A>G p.E417G Missense 10/18 - 1
21-27348328-CA-GC c.1237_1238delinsGC p.W413A Missense 10/18 - 1
21-27348372-A-G c.1225-31T>C - IntronicSNV - 9/17 1
21-27348447-A-G c.1225-106T>C - IntronicSNV - 9/17 1
21-27354666-TCT-ATG c.1213_1215delinsCAT p.R405H Missense 9/18 - 1
21-27354668-T-C c.1213A>G p.R405G Missense 9/18 - 1
21-27354673-C-T c.1208G>A p.R403Q Missense 9/18 - 1
21-27354684-C-T c.1197G>A p.E399= Synonymous 9/18 - 1
21-27354686-C-T c.1195G>A p.E399K Missense 9/18 - 1
21-27354687-A-C c.1194T>G p.L398= Synonymous 9/18 - 1
21-27354687-A-G c.1194T>C p.L398= Synonymous 9/18 - 1
21-27354687-A-T c.1194T>A p.L398= Synonymous 9/18 - 1
21-27354688-A-C c.1193T>G p.L398R Missense 9/18 - 3
21-27354691-C-G c.1190G>C p.R397T Missense 9/18 - 1
21-27354703-T-C c.1178A>G p.K393R Missense 9/18 - 1
21-27354707-G-C c.1174C>G p.Q392E Missense 9/18 - 1
21-27354727-T-G c.1154A>C p.E385A Missense 9/18 - 1
21-27354728-C-G c.1153G>C p.E385Q Missense 9/18 - 1
21-27354730-T-G c.1151A>C p.D384A Missense 9/18 - 1
21-27354733-C-A c.1148G>T p.G383V Missense 9/18 - 1
21-27354742-T-C c.1139A>G p.E380G Missense 9/18 - 1
21-27354757-A-G c.1124T>C p.V375A Missense 9/18 - 1
21-27354774-G-A c.1107C>T p.A369= Synonymous 9/18 - 1
21-27354774-G-C c.1107C>G p.A369= Synonymous 9/18 - 1
21-27354774-G-T c.1107C>A p.A369= Synonymous 9/18 - 1
21-27354776-C-T c.1105G>A p.A369T Missense 9/18 - 1
21-27354785-T-C c.1096A>G p.T366A Missense 9/18 - 1
21-27355017-T-C c.1091-227A>G - IntronicSNV - 8/17 2
21-27359663-C-T c.1091-4873G>A - IntronicSNV - 8/17 1
21-27361768-C-A c.1091-6978G>T - IntronicSNV - 8/17 1
21-27362519-A-G c.1090+7156T>C - IntronicSNV - 8/17 1
21-27362519-A-T c.1090+7156T>A - IntronicSNV - 8/17 1
21-27369355-T-G c.1090+320A>C - IntronicSNV - 8/17 1
21-27369675-G-A c.1090C>T p.L364F Missense 8/18 - 4
21-27369689-C-T c.1076G>A p.R359Q Missense 8/18 - 1
21-27369690-G-A c.1075C>T p.R359* Nonsense 8/18 - 2
21-27369698-G-A c.1067C>T p.P356L Missense 8/18 - 1
21-27369705-G-T c.1060C>A p.Q354K Missense 8/18 - 1
21-27369708-T-C c.1057A>G p.T353A Missense 8/18 - 1
21-27369713-T-C c.1052A>G p.K351R Missense 8/18 - 1
21-27369722-CT-GC c.1042_1043delinsGC p.S348A Missense 8/18 - 1
21-27369728-GA-TC c.1036_1037inv p.S346D Missense 8/18 - 1
21-27369728-G-C c.1037C>G p.S346C Missense 8/18 - 1
21-27369728-G-T c.1037C>A p.S346Y Missense 8/18 - 1
21-27369729-A-C c.1036T>G p.S346A Missense 8/18 - 1
21-27369838-C-T c.1034-107G>A - IntronicSNV - 7/17 1
21-27370876-C-T c.1034-1145G>A - IntronicSNV - 7/17 1
21-27371653-T-C c.1033+677A>G - IntronicSNV - 7/17 1
21-27371667-C-T c.1033+663G>A - IntronicSNV - 7/17 1
21-27372331-G-C c.1032C>G p.A344= Synonymous 7/18 - 2
21-27372331-G-T c.1032C>A p.A344= Synonymous 7/18 - 2
21-27372332-G-A c.1031C>T p.A344V Missense 7/18 - 2
21-27372332-G-C c.1031C>G p.A344G Missense 7/18 - 1
21-27372333-C-T c.1030G>A p.A344T Missense 7/18 - 2
21-27372336-T-A c.1027A>T p.S343C Missense 7/18 - 2
21-27372337-GCC-CTT c.1024_1026delinsAAG p.G342K Missense 7/18 - 1
21-27372338-C-A c.1025G>T p.G342V Missense 7/18 - 1
21-27372345-C-T c.1018G>A p.V340M Missense 7/18 - 5
21-27372348-C-T c.1015G>A p.A339T Missense 7/18 - 1
21-27372367-G-C c.996C>G p.D332E Missense 7/18 - 1
21-27372367-G-T c.996C>A p.D332E Missense 7/18 - 1
21-27372368-T-C c.995A>G p.D332G Missense 7/18 - 1
21-27372378-T-C c.985A>G p.N329D Missense 7/18 - 1
21-27372380-CG-GC c.982_983delinsGC p.R328A Missense 7/18 - 1
21-27372380-C-T c.983G>A p.R328Q Missense 7/18 - 1
21-27372381-G-A c.982C>T p.R328W Missense 7/18 - 4
21-27372394-T-C c.969A>G p.G323= Synonymous 7/18 - 1
21-27372395-C-G c.968G>C p.G323A Missense 7/18 - 2
21-27372398-C-G c.965G>C p.G322A Missense 7/18 - 1
21-27372399-C-A c.964G>T p.G322C Missense 7/18 - 1
21-27372401-T-A c.962A>T p.Y321F Missense 7/18 - 1
21-27372403-A-C c.960T>G p.F320L Missense 7/18 - 1
21-27372403-A-T c.960T>A p.F320L Missense 7/18 - 1
21-27372405-A-G c.958T>C p.F320L Missense 7/18 - 1
21-27372413-G-A c.950C>T p.A317V Missense 7/18 - 1
21-27372429-T-C c.934A>G p.T312A Missense 7/18 - 1
21-27372439-G-C c.924C>G p.Y308* Nonsense 7/18 - 2
21-27372439-G-T c.924C>A p.Y308* Nonsense 7/18 - 1
21-27372447-G-A c.916C>T p.R306C Missense 7/18 - 2
21-27372448-G-A c.915C>T p.S305= Synonymous 7/18 - 5
21-27372448-G-C c.915C>G p.S305= Synonymous 7/18 - 5
21-27372448-G-T c.915C>A p.S305= Synonymous 7/18 - 5
21-27372449-GA-AT c.913_914delinsAT p.S305I Missense 7/18 - 2
21-27372449-GA-TT c.913_914delinsAA p.S305N Missense 7/18 - 10
21-27372450-A-C c.913T>G p.S305A Missense 7/18 - 1
21-27372455-A-G c.908T>C p.M303T Missense 7/18 - 1
21-27372459-C-T c.904G>A p.A302T Missense 7/18 - 1
21-27372460-TCG-GCT c.901_903delinsAGC p.R301S Missense 7/18 - 1
21-27372461-C-A c.902G>T p.R301L Missense 7/18 - 1
21-27372467-G-A c.896C>T p.P299L Missense 7/18 - 5
21-27372470-CC-GT c.892_893delinsAC p.G298T Missense 7/18 - 1
21-27372472-CG-GA c.890_891delinsTC p.T297I Missense 7/18 - 1
21-27372473-G-A c.890C>T p.T297M Missense 7/18 - 3
21-27372477-C-T c.886G>A p.E296K Missense 7/18 - 4
21-27372482-T-C c.881A>G p.Q294R Missense 7/18 - 1
21-27372491-CA-GC c.871_872delinsGC p.C291A Missense 7/18 - 1
21-27372491-C-G c.872G>C p.C291S Missense 7/18 - 2
21-27372492-A-G c.871T>C p.C291R Missense 7/18 - 2
21-27372492-A-T c.871T>A p.C291S Missense 7/18 - 2
21-27372497-T-A c.866A>T p.E289V Missense 7/18 - 1
21-27374604-C-A c.866-2107G>T - IntronicSNV - 6/17 1
21-27387570-C-T c.865+6586G>A - IntronicSNV - 6/17 1
21-27391459-T-C c.865+2697A>G - IntronicSNV - 6/17 1
21-27394159-G-A c.862C>T p.R288* Nonsense 6/18 - 1
21-27394160-AA-CT c.860_861delinsAG p.V287E Missense 6/18 - 1
21-27394161-A-C c.860T>G p.V287G Missense 6/18 - 3
21-27394162-C-T c.859G>A p.V287I Missense 6/18 - 2
21-27394173-A-G c.848T>C p.V283A Missense 6/18 - 1
21-27394177-A-C c.844T>G p.S282A Missense 6/18 - 1
21-27394179-T-G c.842A>C p.E281A Missense 6/18 - 1
21-27394181-CTGT-C c.838_840del p.T280del InFrameDeletion 6/18 - 1
21-27394181-TG-CA c.839_840inv p.T280M Missense 6/18 - 1
21-27394182-G-C c.839C>G p.T280R Missense 6/18 - 1
21-27394183-T-C c.838A>G p.T280A Missense 6/18 - 1
21-27394184-GG-CT c.836_837delinsAG p.T279K Missense 6/18 - 1
21-27394185-G-A c.836C>T p.T279I Missense 6/18 - 1
21-27394194-G-C c.827C>G p.T276S Missense 6/18 - 2
21-27394195-T-A c.826A>T p.T276S Missense 6/18 - 3
21-27394181-TGTG-T c.837_839del p.T280del InFrameDeletion 6/18 - 1
21-27394204-C-T c.817G>A p.A273T Missense 6/18 - 1
21-27394204-GCAA-G c.815_817del p.I272_A273delinsT MultiAAMissense 6/18 - 1
21-27394206-AT-GC c.814_815delinsGC p.I272A Missense 6/18 - 1
21-27394207-T-C c.814A>G p.I272V Missense 6/18 - 1
21-27394208-G-A c.813C>T p.S271= Synonymous 6/18 - 1
21-27394218-C-T c.803G>A p.R268K Missense 6/18 - 1
21-27394219-T-C c.802A>G p.R268G Missense 6/18 - 1
21-27394222-C-G c.799G>C p.E267Q Missense 6/18 - 3
21-27394223-T-A c.798A>T p.T266= Synonymous 6/18 - 1
21-27394223-T-C c.798A>G p.T266= Synonymous 6/18 - 1
21-27394223-T-G c.798A>C p.T266= Synonymous 6/18 - 1
21-27394223-TG-CA c.797_798inv p.T266M Missense 6/18 - 1
21-27394239-G-A c.782C>T p.P261L Missense 6/18 - 1
21-27394251-TC-GT c.769_770delinsAC p.E257T Missense 6/18 - 1
21-27394254-TTC-T c.766_767del p.E256Rfs*3 Frameshift 6/18 - 1
21-27394270-C-T c.751G>A p.G251S Missense 6/18 - 1
21-27394278-T-C c.743A>G p.D248G Missense 6/18 - 1
21-27394279-C-T c.742G>A p.D248N Missense 6/18 - 1
21-27394284-T-G c.737A>C p.E246A Missense 6/18 - 2
21-27394285-C-T c.736G>A p.E246K Missense 6/18 - 4
21-27394287-T-C c.734A>G p.D245G Missense 6/18 - 1
21-27394290-T-C c.731A>G p.D244G Missense 6/18 - 1
21-27394291-C-T c.730G>A p.D244N Missense 6/18 - 1
21-27394294-C-T c.727G>A p.D243N Missense 6/18 - 5
21-27394295-G-A c.726C>T p.A242= Synonymous 6/18 - 1
21-27394295-G-C c.726C>G p.A242= Synonymous 6/18 - 1
21-27394295-G-T c.726C>A p.A242= Synonymous 6/18 - 1
21-27394303-C-T c.718G>A p.E240K Missense 6/18 - 1
21-27394296-GCTT-G c.722_724del p.E241del InFrameDeletion 6/18 - 1
21-27394317-G-A c.704C>T p.A235V Missense 6/18 - 5
21-27394324-C-G c.697G>C p.E233Q Missense 6/18 - 1
21-27394334-TGC-ACA c.685_687delinsTGT p.A229C Missense 6/18 - 1
21-27394336-C-T c.685G>A p.A229T Missense 6/18 - 1
21-27394342-C-T c.679G>A p.E227K Missense 6/18 - 1
21-27394344-A-C c.677T>G p.V226G Missense 6/18 - 1
21-27394347-A-G c.674T>C p.V225A Missense 6/18 - 2
21-27394350-T-C c.671A>G p.K224R Missense 6/18 - 1
21-27394358-A-G c.663T>C p.S221= Synonymous 6/18 - 1
21-27397607-A-G c.663-3249T>C - IntronicSNV - 5/17 1
21-27402812-T-C c.663-8454A>G - IntronicSNV - 5/17 1
21-27402989-T-A c.663-8631A>T - IntronicSNV - 5/17 1
21-27408020-G-A c.663-13662C>T - IntronicSNV - 5/17 1
21-27412605-C-A c.662+10711G>T - IntronicSNV - 5/17 1
21-27412605-C-T c.662+10711G>A - IntronicSNV - 5/17 1
21-27416114-C-CT c.662+7201dup - IntronicInsertion - 5/17 1
21-27423316-CT-GC c.661_662delinsGC p.S221A Missense 5/18 - 1
21-27423319-C-T c.659G>A p.G220E Missense 5/18 - 1
21-27423333-TGT-ATA c.643_645delinsTAT p.T215Y Missense 5/18 - 1
21-27423333-TGT-GTC c.643_645delinsGAC p.T215D Missense 5/18 - 1
21-27423334-GT-AC c.643_644inv p.T215V Missense 5/18 - 1
21-27423338-C-T c.640G>A p.D214N Missense 5/18 - 1
21-27423346-C-G c.632G>C p.G211A Missense 5/18 - 1
21-27423352-C-T c.626G>A p.W209* Nonsense 5/18 - 1
21-27423361-GA-CC c.616_617delinsGG p.S206G Missense 5/18 - 1
21-27423362-A-C c.616T>G p.S206A Missense 5/18 - 2
21-27423362-A-T c.616T>A p.S206T Missense 5/18 - 1
21-27423362-GA-G c.616del p.S206Rfs*20 Frameshift 5/18 - 1
21-27423367-T-G c.611A>C p.D204A Missense 5/18 - 1
21-27423370-T-C c.608A>G p.E203G Missense 5/18 - 1
21-27423371-C-T c.607G>A p.E203K Missense 5/18 - 1
21-27423372-C-A c.606G>T p.E202D Missense 5/18 - 1
21-27423372-C-G c.606G>C p.E202D Missense 5/18 - 1
21-27423376-G-A c.602C>T p.A201V Missense 5/18 - 7
21-27423378-A-G c.600T>C p.D200= Synonymous 5/18 - 1
21-27423386-A-G c.592T>C p.S198P Missense 5/18 - 5
21-27423385-GA-G c.592del p.S198Lfs*28 Frameshift 5/18 - 1
21-27423390-CA-GT c.587_588delinsAC p.V196D Missense 5/18 - 1
21-27423397-T-G c.581A>C p.D194A Missense 5/18 - 1
21-27423400-CT-GC c.577_578delinsGC p.S193A Missense 5/18 - 1
21-27423404-C-T c.574G>A p.E192K Missense 5/18 - 2
21-27423409-G-A c.569C>T p.A190V Missense 5/18 - 1
21-27423412-AG-GC c.565_566delinsGC p.L189A Missense 5/18 - 1
21-27423421-CA-GC c.556_557delinsGC p.C186A Missense 5/18 - 3
21-27423421-C-T c.557G>A p.C186Y Missense 5/18 - 1
21-27423426-A-C c.552T>G p.F184L Missense 5/18 - 1
21-27423426-A-T c.552T>A p.F184L Missense 5/18 - 1
21-27423428-A-G c.550T>C p.F184L Missense 5/18 - 1
21-27423430-T-G c.548A>C p.E183A Missense 5/18 - 2
21-27423432-TAC-CAT c.544_546delinsATG p.V182M Missense 5/18 - 1
21-27423432-T-C c.546A>G p.V182= Synonymous 5/18 - 1
21-27423439-CG-GC c.538_539delinsGC p.R180A Missense 5/18 - 1
21-27423444-C-T c.534G>A p.K178= Synonymous 5/18 - 1
21-27423445-TT-GC c.532_533delinsGC p.K178A Missense 5/18 - 1
21-27423449-C-T c.529G>A p.D177N Missense 5/18 - 3
21-27423451-A-T c.527T>A p.I176N Missense 5/18 - 1
21-27423452-T-C c.526A>G p.I176V Missense 5/18 - 1
21-27423463-A-T c.515T>A p.L172Q Missense 5/18 - 1
21-27423466-AA-GG c.511_512delinsCC p.L171P Missense 5/18 - 1
21-27423475-T-C c.503A>G p.Y168C Missense 5/18 - 1
21-27423480-A-G c.498T>C p.H166= Synonymous 5/18 - 1
21-27423483-C-A c.495G>T p.L165F Missense 5/18 - 1
21-27423483-C-G c.495G>C p.L165F Missense 5/18 - 1
21-27423491-T-C c.487A>G p.T163A Missense 5/18 - 1
21-27423495-C-A c.483G>T p.K161N Missense 5/18 - 1
21-27423495-C-G c.483G>C p.K161N Missense 5/18 - 1
21-27423499-T-G c.479A>C p.E160A Missense 5/18 - 1
21-27423506-A-G c.472T>C p.C158R Missense 5/18 - 1
21-27423547-A-T c.469-38T>A - IntronicSNV - 4/17 1
21-27424038-T-C c.469-529A>G - IntronicSNV - 4/17 1
21-27425554-C-T c.466G>A p.E156K Missense 4/18 - 1
21-27425564-GG-CA c.455_456delinsTG p.T152M Missense 4/18 - 1
21-27425565-GT-CA c.454_455delinsTG p.T152C Missense 4/18 - 2
21-27425566-T-C c.454A>G p.T152A Missense 4/18 - 1
21-27425568-TG-CA c.451_452inv p.H151C Missense 4/18 - 1
21-27425568-TG-GC c.451_452delinsGC p.H151A Missense 4/18 - 1
21-27425569-G-T c.451C>A p.H151N Missense 4/18 - 1
21-27425570-CC-AA c.449_450delinsTT p.W150F Missense 4/18 - 1
21-27425570-CC-AT c.449_450delinsAT p.W150Y Missense 4/18 - 1
21-27425571-CA-GC c.448_449delinsGC p.W150A Missense 4/18 - 1
21-27425571-CA-TG c.448_449inv p.W150Q Missense 4/18 - 1
21-27425571-CA-TT c.448_449delinsAA p.W150K Missense 4/18 - 1
21-27425572-A-G c.448T>C p.W150R Missense 4/18 - 1
21-27425572-A-T c.448T>A p.W150R Missense 4/18 - 1
21-27425574-TG-GC c.445_446delinsGC p.H149A Missense 4/18 - 3
21-27425575-G-A c.445C>T p.H149Y Missense 4/18 - 1
21-27425575-G-T c.445C>A p.H149N Missense 4/18 - 1
21-27425577-AG-GC c.442_443delinsGC p.L148A Missense 4/18 - 1
21-27425580-TG-GC c.439_440delinsGC p.H147A Missense 4/18 - 1
21-27425581-G-T c.439C>A p.H147N Missense 4/18 - 1
21-27425583-GT-CA c.436_437delinsTG p.T146C Missense 4/18 - 2
21-27425583-GT-CC c.436_437delinsGG p.T146G Missense 4/18 - 1
21-27425584-T-C c.436A>G p.T146A Missense 4/18 - 1
21-27425587-C-T c.433G>A p.E145K Missense 4/18 - 1
21-27425596-C-T c.424G>A p.D142N Missense 4/18 - 2
21-27425597-C-A c.423G>T p.M141I Missense 4/18 - 1
21-27425597-C-G c.423G>C p.M141I Missense 4/18 - 1
21-27425597-C-T c.423G>A p.M141I Missense 4/18 - 1
21-27425598-AT-GC c.421_422delinsGC p.M141A Missense 4/18 - 1
21-27425599-T-A c.421A>T p.M141L Missense 4/18 - 2
21-27425599-T-G c.421A>C p.M141L Missense 4/18 - 2
21-27425601-CT-GC c.418_419delinsGC p.R140A Missense 4/18 - 1
21-27425601-CT-TG c.418_419delinsCA p.R140Q Missense 4/18 - 1
21-27425604-T-G c.416A>C p.E139A Missense 4/18 - 1
21-27425605-C-A c.415G>T p.E139* Nonsense 4/18 - 1
21-27425605-C-T c.415G>A p.E139K Missense 4/18 - 1
21-27425607-T-C c.413A>G p.Q138R Missense 4/18 - 1
21-27425607-TG-GC c.412_413delinsGC p.Q138A Missense 4/18 - 1
21-27425610-T-C c.410A>G p.H137R Missense 4/18 - 1
21-27425610-TG-GC c.409_410delinsGC p.H137A Missense 4/18 - 2
21-27425612-T-A c.408A>T p.L136F Missense 4/18 - 1
21-27425612-T-G c.408A>C p.L136F Missense 4/18 - 1
21-27425621-G-T c.399C>A p.C133* Nonsense 4/18 - 1
21-27425625-TT-GC c.394_395delinsGC p.K132A Missense 4/18 - 1
21-27425630-AG-TT c.389_390delinsAA p.P130Q Missense 4/18 - 1
21-27425631-G-A c.389C>T p.P130L Missense 4/18 - 2
21-27425632-G-A c.388C>T p.P130S Missense 4/18 - 1
21-27425633-AAC-CAT c.385_387delinsATG p.V129M Missense 4/18 - 1
21-27425633-AA-CT c.386_387delinsAG p.V129E Missense 4/18 - 1
21-27425633-A-C c.387T>G p.V129= Synonymous 4/18 - 1
21-27425633-A-G c.387T>C p.V129= Synonymous 4/18 - 1
21-27425633-A-T c.387T>A p.V129= Synonymous 4/18 - 1
21-27425640-AG-CT c.379_380inv p.L127S Missense 4/18 - 1
21-27425644-C-T c.376G>A p.A126T Missense 4/18 - 1
21-27425658-T-G c.362A>C p.E121A Missense 4/18 - 1
21-27425660-A-C c.360T>G p.G120= Synonymous 4/18 - 1
21-27425660-A-G c.360T>C p.G120= Synonymous 4/18 - 1
21-27425660-A-T c.360T>A p.G120= Synonymous 4/18 - 1
21-27425662-C-G c.358G>C p.G120R Missense 4/18 - 1
21-27427248-G-T c.356-1584C>A - IntronicSNV - 3/17 2
21-27428256-C-A c.356-2592G>T - IntronicSNV - 3/17 3
21-27428256-C-T c.356-2592G>A - IntronicSNV - 3/17 3
21-27429317-C-T c.356-3653G>A - IntronicSNV - 3/17 1
21-27430925-T-C c.356-5261A>G - IntronicSNV - 3/17 2
21-27430925-T-G c.356-5261A>C - IntronicSNV - 3/17 2
21-27435525-C-A c.356-9861G>T - IntronicSNV - 3/17 3
21-27435525-C-T c.356-9861G>A - IntronicSNV - 3/17 3
21-27438501-C-G c.356-12837G>C - IntronicSNV - 3/17 1
21-27438501-C-T c.356-12837G>A - IntronicSNV - 3/17 1
21-27442596-A-G c.356-16932T>C - IntronicSNV - 3/17 2
21-27443650-G-A c.356-17986C>T - IntronicSNV - 3/17 2
21-27444110-T-C c.355+18149A>G - IntronicSNV - 3/17 1
21-27446432-C-T c.355+15827G>A - IntronicSNV - 3/17 1
21-27454995-T-C c.355+7264A>G - IntronicSNV - 3/17 2
21-27458409-A-G c.355+3850T>C - IntronicSNV - 3/17 2
21-27459674-C-G c.355+2585G>C - IntronicSNV - 3/17 2
21-27459674-C-T c.355+2585G>A - IntronicSNV - 3/17 2
21-27462264-CA-GC c.349_350delinsGC p.C117A Missense 3/18 - 2
21-27462265-A-C c.349T>G p.C117G Missense 3/18 - 1
21-27462267-CG-GC c.346_347delinsGC p.R116A Missense 3/18 - 1
21-27462268-G-A c.346C>T p.R116C Missense 3/18 - 2
21-27462270-T-C c.344A>G p.Y115C Missense 3/18 - 4
21-27462276-A-G c.338T>C p.I113T Missense 3/18 - 2
21-27462279-A-G c.335T>C p.V112A Missense 3/18 - 1
21-27462285-TG-GC c.328_329delinsGC p.H110A Missense 3/18 - 1
21-27462286-G-A c.328C>T p.H110Y Missense 3/18 - 1
21-27462286-G-T c.328C>A p.H110N Missense 3/18 - 1
21-27462300-CA-GC c.313_314delinsGC p.C105A Missense 3/18 - 1
21-27462300-C-G c.314G>C p.C105S Missense 3/18 - 1
21-27462301-A-T c.313T>A p.C105S Missense 3/18 - 1
21-27462307-T-G c.307A>C p.K103Q Missense 3/18 - 1
21-27462309-CG-GC c.304_305delinsGC p.R102A Missense 3/18 - 1
21-27462314-CCG-ATA c.298_300delinsTAT p.R100Y Missense 3/18 - 1
21-27462314-CCG-GAT c.298_300delinsATC p.R100I Missense 3/18 - 1
21-27462315-C-A c.299G>T p.R100L Missense 3/18 - 1
21-27462315-CG-AC c.298_299delinsGT p.R100V Missense 3/18 - 1
21-27462315-CG-TC c.298_299delinsGA p.R100E Missense 3/18 - 4
21-27462316-G-A c.298C>T p.R100W Missense 3/18 - 5
21-27462321-CA-GC c.292_293delinsGC p.C98A Missense 3/18 - 1
21-27462324-C-T c.290G>A p.W97* Nonsense 3/18 - 1
21-27462335-G-A c.279C>T p.T93= Synonymous 3/18 - 1
21-27462342-G-A c.272C>T p.P91L Missense 3/18 - 1
21-27462345-T-C c.269A>G p.Q90R Missense 3/18 - 2
21-27462351-G-T c.263C>A p.A88D Missense 3/18 - 1
21-27462353-T-C c.261A>G p.E87= Synonymous 3/18 - 1
21-27462353-TTC-ACA c.259_261delinsTGT p.E87C Missense 3/18 - 1
21-27462354-TC-CT c.259_260delinsAG p.E87R Missense 3/18 - 1
21-27462354-T-G c.260A>C p.E87A Missense 3/18 - 1
21-27462360-AC-GT c.253_254inv p.V85T Missense 3/18 - 1
21-27462372-T-A c.242A>T p.Q81L Missense 3/18 - 1
21-27462388-C-T c.226G>A p.V76I Missense 3/18 - 1
21-27462422-T-C c.226-34A>G - IntronicSNV - 2/17 1
21-27462727-A-C c.226-339T>G - IntronicSNV - 2/17 1
21-27464270-A-G c.226-1882T>C - IntronicSNV - 2/17 1
21-27465355-T-C c.226-2967A>G - IntronicSNV - 2/17 2
21-27465355-T-G c.226-2967A>C - IntronicSNV - 2/17 2
21-27465597-C-T c.226-3209G>A - IntronicSNV - 2/17 2
21-27468740-C-T c.226-6352G>A - IntronicSNV - 2/17 1
21-27471711-C-T c.226-9323G>A - IntronicSNV - 2/17 1
21-27473875-C-A c.225+10421G>T - IntronicSNV - 2/17 4
21-27473875-C-T c.225+10421G>A - IntronicSNV - 2/17 4
21-27475811-A-C c.225+8485T>G - IntronicSNV - 2/17 1
21-27476104-G-T c.225+8192C>A - IntronicSNV - 2/17 3
21-27481317-T-G c.225+2979A>C - IntronicSNV - 2/17 1
21-27484296-T-C c.225A>G p.E75= Synonymous 2/18 - 1
21-27484297-TC-GT c.223_224delinsAC p.E75T Missense 2/18 - 1
21-27484306-T-C c.215A>G p.Y72C Missense 2/18 - 1
21-27484309-T-A c.212A>T p.Q71L Missense 2/18 - 2
21-27484310-G-GTTCTTGGCAATACTGCAGGATGCCTTCCTTGGTATCAATGCAGGTTTTGGTCCCTGATGGATCTGAATCCCA c.210_211insTGGGATTCAGATCCATCAGGGACCAAAACCTGCATTGATACCAAGGAAGGCATCCTGCAGTATTGCCAAGAA p.L70_Q71insWDSDPSGTKTCIDTKEGILQYCQE InFrameInsertion 2/18 - 1
21-27484316-T-C c.205A>G p.I69V Missense 2/18 - 1
21-27484318-CC-AT c.202_203delinsAT p.G68I Missense 2/18 - 1
21-27484319-C-A c.202G>T p.G68C Missense 2/18 - 1
21-27484327-G-C c.194C>G p.T65S Missense 2/18 - 1
21-27484327-GT-CC c.193_194delinsGG p.T65G Missense 2/18 - 1
21-27484328-T-A c.193A>T p.T65S Missense 2/18 - 1
21-27484328-T-C c.193A>G p.T65A Missense 2/18 - 2
21-27484330-T-A c.191A>T p.D64V Missense 2/18 - 1
21-27484333-A-G c.188T>C p.I63T Missense 2/18 - 1
21-27484335-G-T c.186C>A p.C62* Nonsense 2/18 - 1
21-27484336-C-T c.185G>A p.C62Y Missense 2/18 - 1
21-27484336-C-G c.185G>C p.C62S Missense 2/18 - 1
21-27484337-A-T c.184T>A p.C62S Missense 2/18 - 1
21-27484338-GG-CC c.182_183inv p.T61R Missense 2/18 - 2
21-27484339-G-A c.182C>T p.T61I Missense 2/18 - 1
21-27484345-G-A c.176C>T p.T59I Missense 2/18 - 1
21-27484349-C-G c.172G>C p.G58R Missense 2/18 - 1
21-27484349-C-T c.172G>A p.G58R Missense 2/18 - 1
21-27484352-A-G c.169T>C p.S57P Missense 2/18 - 1
21-27484357-TC-AA c.163_164delinsTT p.D55F Missense 2/18 - 1
21-27484362-ATC-TTA c.157_159delinsTAA p.D53* Nonsense 2/18 - 1
21-27484369-T-G c.152A>C p.K51T Missense 2/18 - 1
21-27484373-C-T c.148G>A p.G50R Missense 2/18 - 1
21-27484382-C-G c.139G>C p.V47L Missense 2/18 - 1
21-27484385-T-C c.136A>G p.N46D Missense 2/18 - 1
21-27484392-C-A c.129G>T p.M43I Missense 2/18 - 1
21-27484392-C-G c.129G>C p.M43I Missense 2/18 - 1
21-27484392-C-T c.129G>A p.M43I Missense 2/18 - 1
21-27484395-GTT-TTG c.124_126delinsCAA p.N42Q Missense 2/18 - 1
21-27484399-A-G c.122T>C p.L41P Missense 2/18 - 1
21-27484400-G-GTTCTTGGCAATACTGCAGGATGCCTTCCTTGGTATCAATGCAGGTTTTGGTCCCTGATGGATCTGAATCCCA c.120_121insTGGGATTCAGATCCATCAGGGACCAAAACCTGCATTGATACCAAGGAAGGCATCCTGCAGTATTGCCAAGAA p.R40_L41insWDSDPSGTKTCIDTKEGILQYCQE InFrameInsertion 2/18 - 1
21-27484401-TCT-CCA c.118_120delinsTGG p.R40W Missense 2/18 - 1
21-27484402-CT-AG c.118_119inv p.R40L Missense 2/18 - 1
21-27484403-T-C c.118A>G p.R40G Missense 2/18 - 1
21-27484405-C-G c.116G>C p.G39A Missense 2/18 - 1
21-27484406-C-A c.115G>T p.G39C Missense 2/18 - 1
21-27484408-CA-TC c.112_113delinsGA p.C38D Missense 2/18 - 2
21-27484409-A-C c.112T>G p.C38G Missense 2/18 - 1
21-27484410-G-C c.111C>G p.F37L Missense 2/18 - 1
21-27484411-AA-GC c.109_110delinsGC p.F37A Missense 2/18 - 1
21-27484413-C-A c.108G>T p.M36I Missense 2/18 - 1
21-27484413-C-G c.108G>C p.M36I Missense 2/18 - 1
21-27484413-C-T c.108G>A p.M36I Missense 2/18 - 1
21-27484414-AT-TA c.106_107delinsTA p.M36* Nonsense 2/18 - 1
21-27484417-GC-AA c.103_104delinsTT p.A35F Missense 2/18 - 1
21-27484418-C-T c.103G>A p.A35T Missense 2/18 - 2
21-27484421-T-C c.100A>G p.I34V Missense 2/18 - 1
21-27484423-T-C c.98A>G p.Q33R Missense 2/18 - 1
21-27484424-G-C c.97C>G p.Q33E Missense 2/18 - 1
21-27484431-AG-CT c.89_90inv p.A30E Missense 2/18 - 1
21-27484432-G-C c.89C>G p.A30G Missense 2/18 - 2
21-27484432-GC-CA c.88_89delinsTG p.A30C Missense 2/18 - 1
21-27484432-G-T c.89C>A p.A30D Missense 2/18 - 1
21-27484433-C-G c.88G>C p.A30P Missense 2/18 - 144
21-27484433-C-T c.88G>A p.A30T Missense 2/18 - 1
21-27484437-GCA-G c.83_84del p.L28Pfs*3 Frameshift 2/18 - 1
21-27484438-A-G c.83T>C p.L28P Missense 2/18 - 3
21-27484438-AG-CC c.82_83delinsGG p.L28G Missense 2/18 - 1
21-27484439-G-C c.82C>G p.L28V Missense 2/18 - 1
21-27484444-GC-CA c.76_77delinsTG p.A26C Missense 2/18 - 1
21-27484444-GC-TT c.76_77delinsAA p.A26N Missense 2/18 - 1
21-27484445-C-T c.76G>A p.A26T Missense 2/18 - 1
21-27484452-ATC-CTT c.67_69delinsAAG p.D23K Missense 2/18 - 3
21-27484453-T-C c.68A>G p.D23G Missense 2/18 - 4
21-27484453-TC-AA c.67_68delinsTT p.D23F Missense 2/18 - 1
21-27484453-TC-CT c.67_68delinsAG p.D23S Missense 2/18 - 2
21-27484453-TC-GG c.67_68delinsCC p.D23P Missense 2/18 - 1
21-27484453-T-G c.68A>C p.D23A Missense 2/18 - 1
21-27484454-C-A c.67G>T p.D23Y Missense 2/18 - 2
21-27484454-C-T c.67G>A p.D23N Missense 2/18 - 89
21-27484456-G-T c.65C>A p.T22N Missense 2/18 - 5
21-27484458-GGG-CCA c.61_63delinsTGG p.P21W Missense 2/18 - 1
21-27484459-GG-TT c.61_62delinsAA p.P21N Missense 2/18 - 1
21-27484460-G-A c.61C>T p.P21S Missense 2/18 - 2
21-27484460-G-C c.61C>G p.P21A Missense 2/18 - 1
21-27484968-T-C c.58-505A>G - IntronicSNV - 1/17 1
21-27488767-C-A c.58-4304G>T - IntronicSNV - 1/17 1
21-27488767-C-T c.58-4304G>A - IntronicSNV - 1/17 1
21-27494202-C-A c.58-9739G>T - IntronicSNV - 1/17 2
21-27494202-C-G c.58-9739G>C - IntronicSNV - 1/17 2
21-27494202-C-T c.58-9739G>A - IntronicSNV - 1/17 2
21-27496667-T-C c.58-12204A>G - IntronicSNV - 1/17 1
21-27497497-G-A c.58-13034C>T - IntronicSNV - 1/17 1
21-27500333-C-T c.58-15870G>A - IntronicSNV - 1/17 1
21-27500660-T-G c.58-16197A>C - IntronicSNV - 1/17 2
21-27501142-T-A c.58-16679A>T - IntronicSNV - 1/17 1
21-27501142-T-C c.58-16679A>G - IntronicSNV - 1/17 1
21-27502442-C-T c.58-17979G>A - IntronicSNV - 1/17 1
21-27502468-T-A c.58-18005A>T - IntronicSNV - 1/17 1
21-27502468-T-C c.58-18005A>G - IntronicSNV - 1/17 1
21-27502723-C-A c.58-18260G>T - IntronicSNV - 1/17 1
21-27503422-C-T c.58-18959G>A - IntronicSNV - 1/17 3
21-27506317-G-C c.58-21854C>G - IntronicSNV - 1/17 1
21-27506317-G-T c.58-21854C>A - IntronicSNV - 1/17 1
21-27508060-T-C c.58-23597A>G - IntronicSNV - 1/17 1
21-27512583-C-G c.58-28120G>C - IntronicSNV - 1/17 1
21-27512811-A-C c.58-28348T>G - IntronicSNV - 1/17 1
21-27512811-A-T c.58-28348T>A - IntronicSNV - 1/17 1
21-27512956-A-T c.58-28493T>A - IntronicSNV - 1/17 1
21-27513837-A-G c.57+29045T>C - IntronicSNV - 1/17 2
21-27514373-G-A c.57+28509C>T - IntronicSNV - 1/17 2
21-27514373-G-C c.57+28509C>G - IntronicSNV - 1/17 2
21-27514740-T-C c.57+28142A>G - IntronicSNV - 1/17 4
21-27515239-C-G c.57+27643G>C - IntronicSNV - 1/17 1
21-27515239-C-T c.57+27643G>A - IntronicSNV - 1/17 1
21-27517077-A-C c.57+25805T>G - IntronicSNV - 1/17 1
21-27517077-A-T c.57+25805T>A - IntronicSNV - 1/17 1
21-27517203-T-C c.57+25679A>G - IntronicSNV - 1/17 1
21-27520714-T-C c.57+22168A>G - IntronicSNV - 1/17 1
21-27520773-G-C c.57+22109C>G - IntronicSNV - 1/17 1
21-27521417-A-G c.57+21465T>C - IntronicSNV - 1/17 1
21-27522908-T-C c.57+19974A>G - IntronicSNV - 1/17 1
21-27530610-C-A c.57+12272G>T - IntronicSNV - 1/17 1
21-27530610-C-G c.57+12272G>C - IntronicSNV - 1/17 1
21-27531267-T-C c.57+11615A>G - IntronicSNV - 1/17 1
21-27532072-A-G c.57+10810T>C - IntronicSNV - 1/17 1
21-27533022-C-G c.57+9860G>C - IntronicSNV - 1/17 1
21-27533329-G-A c.57+9553C>T - IntronicSNV - 1/17 1
21-27534261-T-A c.57+8621A>T - IntronicSNV - 1/17 1
21-27534261-T-C c.57+8621A>G - IntronicSNV - 1/17 1
21-27534816-G-A c.57+8066C>T - IntronicSNV - 1/17 2
21-27535027-C-T c.57+7855G>A - IntronicSNV - 1/17 3
21-27537584-A-G c.57+5298T>C - IntronicSNV - 1/17 1
21-27542881-C-CTTCTTGGCAATACTGCAGGATGCCTTCCTTGGTATCAATGCAGGTTTTGGTCCCTGATGGATCTGAATCCCA c.57_57+1insTGGGATTCAGATCCATCAGGGACCAAAACCTGCATTGATACCAAGGAAGGCATCCTGCAGTATTGCCAAGAA p.E19_V20insWDSDPSGTKTCIDTKEGILQYCQE SpliceDonorInsertion - - 1
21-27542882-CTC-ACA c.55_57delinsTGT p.E19C Missense 1/18 - 1
21-27542886-A-C c.53T>G p.L18R Missense 1/18 - 1
21-27542886-AG-GC c.52_53delinsGC p.L18A Missense 1/18 - 1
21-27542887-G-C c.52C>G p.L18V Missense 1/18 - 1
21-27542888-C-A c.51G>T p.A17= Synonymous 1/18 - 1
21-27542888-C-G c.51G>C p.A17= Synonymous 1/18 - 1
21-27542888-C-T c.51G>A p.A17= Synonymous 1/18 - 1
21-27542889-G-T c.50C>A p.A17E Missense 1/18 - 1
21-27542891-CCG-ACA c.46_48delinsTGT p.R16C Missense 1/18 - 1
21-27542891-CCG-GTC c.46_48delinsGAC p.R16D Missense 1/18 - 1
21-27542892-CG-GC c.46_47delinsGC p.R16A Missense 1/18 - 2
21-27542892-C-T c.47G>A p.R16Q Missense 1/18 - 1
21-27542891-C-A c.48G>T p.R16= Synonymous 1/18 - 1
21-27542891-C-G c.48G>C p.R16= Synonymous 1/18 - 1
21-27542891-C-T c.48G>A p.R16= Synonymous 1/18 - 1
21-27542893-G-A c.46C>T p.R16W Missense 1/18 - 1
21-27542893-G-C c.46C>G p.R16G Missense 1/18 - 2
21-27542893-G-T c.46C>A p.R16= Synonymous 1/18 - 1
21-27542894-AG-CT c.44_45inv p.A15E Missense 1/18 - 2
21-27542895-G-C c.44C>G p.A15G Missense 1/18 - 1
21-27542895-GC-CA c.43_44delinsTG p.A15C Missense 1/18 - 1
21-27542896-C-A c.43G>T p.A15S Missense 1/18 - 1
21-27542898-GT-CA c.40_41delinsTG p.T14W Missense 1/18 - 1
21-27542903-G-A c.36C>T p.A12= Synonymous 1/18 - 2
21-27542903-G-C c.36C>G p.A12= Synonymous 1/18 - 2
21-27542903-GG-CT c.35_36delinsAG p.A12E Missense 1/18 - 1
21-27542903-G-T c.36C>A p.A12= Synonymous 1/18 - 2
21-27542904-GC-AA c.34_35delinsTT p.A12F Missense 1/18 - 2
21-27542904-GC-CA c.34_35delinsTG p.A12C Missense 1/18 - 1
21-27542904-G-T c.35C>A p.A12D Missense 1/18 - 1
21-27542906-G-A c.33C>T p.A11= Synonymous 1/18 - 2
21-27542906-G-C c.33C>G p.A11= Synonymous 1/18 - 2
21-27542906-GG-CT c.32_33delinsAG p.A11E Missense 1/18 - 2
21-27542906-G-T c.33C>A p.A11= Synonymous 1/18 - 2
21-27542907-GC-CG c.31_32delinsCG p.A11R Missense 1/18 - 1
21-27542907-G-T c.32C>A p.A11D Missense 1/18 - 1
21-27542909-CAG-GAT c.28_30delinsATC p.L10I Missense 1/18 - 1
21-27542910-A-G c.29T>C p.L10P Missense 1/18 - 1
21-27542910-AG-GC c.28_29delinsGC p.L10A Missense 1/18 - 6
21-27542910-AG-TT c.28_29delinsAA p.L10K Missense 1/18 - 1
21-27542917-G-A c.22C>T p.L8F Missense 1/18 - 2
21-27542927-A-C c.12T>G p.G4= Synonymous 1/18 - 1
21-27542927-A-G c.12T>C p.G4= Synonymous 1/18 - 1
21-27542927-A-T c.12T>A p.G4= Synonymous 1/18 - 1
21-27542930-G-A c.9C>T p.P3= Synonymous 1/18 - 2
21-27542930-G-C c.9C>G p.P3= Synonymous 1/18 - 2
21-27542930-G-T c.9C>A p.P3= Synonymous 1/18 - 2
21-27542933-C-A c.6G>T p.L2= Synonymous 1/18 - 1
21-27542933-C-G c.6G>C p.L2= Synonymous 1/18 - 1
21-27542933-C-T c.6G>A p.L2= Synonymous 1/18 - 1
21-27542935-G-A c.4C>T p.L2= Synonymous 1/18 - 1
21-27542938-T-C c.1A>G p.M1? Missense 1/18 - 1
21-27543049-C-G c.-111G>C - 5-UTRSNV 1/18 - 3
21-27543049-C-T c.-111G>A - 5-UTRSNV 1/18 - 3
21-27543086-G-A c.-148C>T - 5-UTRSNV 1/18 - 1