APP

APP amyloid beta precursor protein

Annotation transcript: NM_000484.4

2273 unique variant annotations were identified in 2567 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 - 2
21-27253148-T-C c.*833A>G - 3-UTRSNV 18/18 - 1
21-27253148-T-G c.*833A>C - 3-UTRSNV 18/18 - 1
21-27253201-A-G c.*780T>C - 3-UTRSNV 18/18 - 1
21-27253423-A-G c.*558T>C - 3-UTRSNV 18/18 - 1
21-27253424-T-C c.*557A>G - 3-UTRSNV 18/18 - 1
21-27253609-T-C c.*372A>G - 3-UTRSNV 18/18 - 2
21-27253736-T-G c.*245A>C - 3-UTRSNV 18/18 - 1
21-27253739-A-G c.*242T>C - 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 - 2
21-27253983-A-G c.2311T>C p.*771Qext*26 Missense 18/18 - 1
21-27253984-G-C c.2310C>G p.N770K Missense 18/18 - 1
21-27253989-G-A c.2305C>T p.Q769* Nonsense 18/18 - 1
21-27253994-T-C c.2300A>G p.Q767R Missense 18/18 - 3
21-27253999-AAAGAACTTGTAGGTTGGATTTTCGTAGCCGTTCTGCTGCATCTTGGACAGGTGGCGCT-C c.2237_2295delinsG p.E746Gfs*31 Multi:SpliceDonorBlockSubstitution,SpliceAcceptorBlockSubstitution 18/18 - 1
21-27253999-A-G c.2295T>C p.F765= Synonymous 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
21-27254002-G-T c.2292C>A p.F764L Missense 18/18 - 6
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
21-27254002-G-C c.2292C>G p.F764L Missense 18/18 - 5
21-27254004-A-G c.2290T>C p.F764L Missense 18/18 - 5
21-27254005-C-T c.2289G>A p.K763= Synonymous 18/18 - 1
21-27254006-T-C c.2288A>G p.K763R Missense 18/18 - 2
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
21-27254007-T-C c.2287A>G p.K763E 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
21-27254011-G-C c.2283C>G p.T761= Synonymous 18/18 - 1
21-27254013-T-C c.2281A>G p.T761A Missense 18/18 - 2
21-27254014-T-C c.2280A>G p.P760= Synonymous 18/18 - 2
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
21-27254019-T-C c.2275A>G p.N759D Missense 18/18 - 1
21-27254017-AT-A c.2276del p.N759Ifs*37 Frameshift 18/18 - 1
21-27254022-C-T c.2272G>A p.E758K Missense 18/18 - 1
21-27254023-G-A c.2271C>T p.Y757= Synonymous 18/18 - 3
21-27254023-G-C c.2271C>G p.Y757* Nonsense 18/18 - 1
21-27254023-G-T c.2271C>A p.Y757* Nonsense 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
21-27254028-C-T c.2266G>A p.G756S Missense 18/18 - 2
21-27254029-G-A c.2265C>T p.N755= Synonymous 18/18 - 4
21-27254032-C-A c.2262G>T p.Q754H Missense 18/18 - 1
21-27254035-C-A c.2259G>T p.Q753H Missense 18/18 - 1
21-27254035-C-G c.2259G>C p.Q753H Missense 18/18 - 1
21-27254036-CT-C c.2258del p.Q753Rfs*43 Frameshift 18/18 - 1
21-27254037-G-A c.2257C>T p.Q753* Nonsense 18/18 - 5
21-27254038-C-A c.2256G>T p.M752I Missense 18/18 - 5
21-27254038-C-G c.2256G>C p.M752I Missense 18/18 - 3
21-27254038-C-T c.2256G>A p.M752I Missense 18/18 - 3
21-27254041-C-G c.2253G>C p.K751N Missense 18/18 - 1
21-27254041-C-T c.2253G>A p.K751= Synonymous 18/18 - 1
21-27254042-T-C c.2252A>G p.K751R Missense 18/18 - 1
21-27254043-T-C c.2251A>G p.K751E Missense 18/18 - 3
21-27254045-G-C c.2249C>G p.S750C Missense 18/18 - 3
21-27254049-G-A c.2245C>T p.L749= Synonymous 18/18 - 3
21-27254050-G-T c.2244C>A p.H748Q Missense 18/18 - 1
21-27254054-C-G c.2240G>C p.R747P Missense 18/18 - 7
21-27254054-C-T c.2240G>A p.R747H Missense 18/18 - 2
21-27254055-G-A c.2239C>T p.R747C Missense 18/18 - 5
21-27254061-C-G c.2233G>C p.E745Q Missense 18/18 - 1
21-27254061-C-T c.2233G>A p.E745K Missense 18/18 - 1
21-27254063-G-A c.2231C>T p.P744L Missense 18/18 - 1
21-27254064-G-A c.2230C>T p.P744S Missense 18/18 - 1
21-27254065-G-A c.2229C>T p.T743= Synonymous 18/18 - 1
21-27254067-T-C c.2227A>G p.T743A Missense 18/18 - 1
21-27254070-C-G c.2224G>C p.V742L Missense 18/18 - 1
21-27254073-C-A c.2221G>T p.A741S Missense 18/18 - 2
21-27254073-C-T c.2221G>A p.A741T Missense 18/18 - 1
21-27254076-C-A c.2218G>T p.A740S Missense 18/18 - 2
21-27254076-C-T c.2218G>A p.A740T Missense 18/18 - 1
21-27254077-G-A c.2217C>T p.D739= Synonymous 18/18 - 2
21-27254078-T-A c.2216A>T p.D739V Missense 18/18 - 1
21-27254082-C-T c.2212G>A p.V738I Missense 18/18 - 1
21-27254092-A-C c.2212-10T>G - IntronicSNV - 17/17 3
21-27254092-A-G c.2212-10T>C - IntronicSNV - 17/17 3
21-27254140-A-C c.2212-58T>G - IntronicSNV - 17/17 2
21-27254194-C-T c.2212-112G>A - IntronicSNV - 17/17 8
21-27254218-C-G c.2212-136G>C - IntronicSNV - 17/17 1
21-27254218-C-T c.2212-136G>A - IntronicSNV - 17/17 1
21-27254279-C-G c.2212-197G>C - IntronicSNV - 17/17 6
21-27254320-C-A c.2212-238G>T - IntronicSNV - 17/17 3
21-27254320-C-T c.2212-238G>A - IntronicSNV - 17/17 3
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
21-27258145-C-T c.2212-4063G>A - IntronicSNV - 17/17 1
21-27260014-C-T c.2211+4020G>A - IntronicSNV - 17/17 1
21-27260278-A-T c.2211+3756T>A - IntronicSNV - 17/17 1
21-27260278-GA-G c.2211+3756del - IntronicDeletion - 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
21-27263925-C-G c.2211+109G>C - IntronicSNV - 17/17 1
21-27263925-C-T c.2211+109G>A - IntronicSNV - 17/17 1
21-27263949-C-A c.2211+85G>T - IntronicSNV - 17/17 1
21-27263971-G-A c.2211+63C>T - IntronicSNV - 17/17 1
21-27264032-A-C c.2211+2T>G - IntronicSNV - 17/17 1
21-27264044-C-T c.2201G>A p.G734D Missense 17/18 - 2
21-27264045-C-T c.2200G>A p.G734S Missense 17/18 - 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-GA-CG c.2188_2189delinsCG p.S730R Missense 17/18 - 1
21-27264056-G-C c.2189C>G p.S730C Missense 17/18 - 2
21-27264056-G-T c.2189C>A p.S730Y Missense 17/18 - 1
21-27264058-TGT-ACA c.2185_2187inv p.T729C Missense 17/18 - 2
21-27264059-G-A c.2186C>T p.T729I Missense 17/18 - 1
21-27264060-T-C c.2185A>G p.T729A Missense 17/18 - 2
21-27264065-T-A c.2180A>T p.Q727L Missense 17/18 - 4
21-27264067-T-C c.2178A>G p.K726= Synonymous 17/18 - 1
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 - 22
21-27264073-C-G c.2172G>C p.K724N Missense 17/18 - 24
21-27264074-T-A c.2171A>T p.K724M Missense 17/18 - 4
21-27264074-T-C c.2171A>G p.K724R Missense 17/18 - 1
21-27264076-C-A c.2169G>T p.L723= Synonymous 17/18 - 2
21-27264076-CAG-ACA c.2167_2169delinsTGT p.L723C Missense 17/18 - 1
21-27264076-CAG-GTC c.2167_2169delinsGAC p.L723D Missense 17/18 - 1
21-27264076-C-G c.2169G>C p.L723= Synonymous 17/18 - 1
21-27264076-C-T c.2169G>A p.L723= Synonymous 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 - 34
21-27264077-AG-GC c.2167_2168delinsGC p.L723A Missense 17/18 - 1
21-27264077-AG-TC c.2167_2168delinsGA p.L723E Missense 17/18 - 1
21-27264077-AG-TT c.2167_2168delinsAA p.L723K Missense 17/18 - 1
21-27264078-G-A c.2167C>T p.L723= Synonymous 17/18 - 3
21-27264078-G-T c.2167C>A p.L723M Missense 17/18 - 1
21-27264079-CAT-GTC c.2164_2166delinsGAC p.M722D Missense 17/18 - 1
21-27264080-A-T c.2165T>A p.M722K Missense 17/18 - 11
21-27264080-AT-GG c.2164_2165delinsCC p.M722P Missense 17/18 - 1
21-27264080-AT-TC c.2164_2165delinsGA p.M722E Missense 17/18 - 1
21-27264083-A-C c.2162T>G p.V721G Missense 17/18 - 1
21-27264083-AC-GA c.2161_2162delinsTC p.V721S Missense 17/18 - 1
21-27264083-AC-GG c.2161_2162delinsCC p.V721P Missense 17/18 - 1
21-27264083-AC-GT c.2161_2162inv p.V721T Missense 17/18 - 1
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 - 8
21-27264086-A-G c.2159T>C p.L720S Missense 17/18 - 6
21-27264087-A-G c.2158T>C p.L720= Synonymous 17/18 - 1
21-27264088-GG-CA c.2156_2157delinsTG p.T719M Missense 17/18 - 1
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 - 12
21-27264093-T-A c.2152A>T p.I718F Missense 17/18 - 1
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 - 2
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 - 48
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 - 796
21-27264096-C-G c.2149G>C p.V717L Missense 17/18 - 95
21-27264096-C-T c.2149G>A p.V717I Missense 17/18 - 881
21-27264097-G-A c.2148C>T p.I716= Synonymous 17/18 - 7
21-27264097-G-C c.2148C>G p.I716M Missense 17/18 - 6
21-27264097-G-T c.2148C>A p.I716= Synonymous 17/18 - 3
21-27264098-A-G c.2147T>C p.I716T Missense 17/18 - 20
21-27264098-AT-CA c.2146_2147delinsTG p.I716C Missense 17/18 - 1
21-27264099-T-A c.2146A>T p.I716F Missense 17/18 - 100
21-27264099-T-C c.2146A>G p.I716V Missense 17/18 - 444
21-27264100-CAC-AAA c.2143_2145delinsTTT p.V715F Missense 17/18 - 10
21-27264100-CAC-GAT c.2143_2145delinsATC p.V715I Missense 17/18 - 2
21-27264101-A-C c.2144T>G p.V715G Missense 17/18 - 1
21-27264101-A-G c.2144T>C p.V715A Missense 17/18 - 22
21-27264102-ACTGTCGCT-A c.2136_2143del p.A713Dfs*24 Frameshift 17/18 - 1
21-27264102-C-T c.2143G>A p.V715M Missense 17/18 - 44
21-27264103-T-G c.2142A>C p.T714= Synonymous 17/18 - 1
21-27264104-G-A c.2141C>T p.T714I Missense 17/18 - 63
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 - 29
21-27264106-C-A c.2139G>T p.A713= Synonymous 17/18 - 1
21-27264106-C-G c.2139G>C p.A713= Synonymous 17/18 - 1
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
21-27264106-C-T c.2139G>A p.A713= Synonymous 17/18 - 3
21-27264107-G-A c.2138C>T p.A713V Missense 17/18 - 14
21-27264107-G-T c.2138C>A p.A713E Missense 17/18 - 1
21-27264108-C-T c.2137G>A p.A713T Missense 17/18 - 59
21-27264112-G-T c.2133C>A p.V711= Synonymous 17/18 - 3
21-27264113-A-T c.2132T>A p.V711D Missense 17/18 - 2
21-27264114-C-A c.2131G>T p.V711F Missense 17/18 - 2
21-27264114-C-T c.2131G>A p.V711I Missense 17/18 - 1
21-27264116-A-C c.2129T>G p.V710G Missense 17/18 - 6
21-27264117-C-T c.2128G>A p.V710I Missense 17/18 - 1
21-27264118-A-C c.2127T>G p.G709= Synonymous 17/18 - 1
21-27264118-AC-CT c.2126_2127delinsAG p.G709E Missense 17/18 - 1
21-27264118-A-G c.2127T>C p.G709= Synonymous 17/18 - 4
21-27264118-A-T c.2127T>A p.G709= Synonymous 17/18 - 1
21-27264119-C-A c.2126G>T p.G709V Missense 17/18 - 2
21-27264119-CC-AA c.2125_2126delinsTT p.G709F Missense 17/18 - 1
21-27264119-C-G c.2126G>C p.G709A Missense 17/18 - 2
21-27264119-C-T c.2126G>A p.G709D 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 - 13
21-27264121-G-A c.2124C>T p.G708= Synonymous 17/18 - 14
21-27264121-G-C c.2124C>G p.G708= Synonymous 17/18 - 8
21-27264121-G-T c.2124C>A p.G708= Synonymous 17/18 - 9
21-27264122-CC-AG c.2122_2123delinsCT p.G708L Missense 17/18 - 1
21-27264122-C-T c.2123G>A p.G708D Missense 17/18 - 1
21-27264123-C-A c.2122G>T p.G708C Missense 17/18 - 1
21-27264124-C-A c.2121G>T p.V707= Synonymous 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
21-27264124-C-G c.2121G>C p.V707= Synonymous 17/18 - 1
21-27264124-C-T c.2121G>A p.V707= Synonymous 17/18 - 1
21-27264130-G-A c.2115C>T p.L705= Synonymous 17/18 - 2
21-27264130-G-C c.2115C>G p.L705= Synonymous 17/18 - 1
21-27264130-G-T c.2115C>A 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 - 19
21-27264133-TCC-ACA c.2110_2112delinsTGT p.G704C Missense 17/18 - 2
21-27264134-CC-AG c.2110_2111delinsCT p.G704L Missense 17/18 - 3
21-27264135-C-T c.2110G>A p.G704R Missense 17/18 - 5
21-27264136-A-G c.2109T>C p.I703= Synonymous 17/18 - 1
21-27264137-A-G c.2108T>C p.I703T Missense 17/18 - 1
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
21-27264138-T-C c.2107A>G p.I703V Missense 17/18 - 1
21-27264139-G-A c.2106C>T p.I702= Synonymous 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
21-27264141-T-C c.2104A>G p.I702V Missense 17/18 - 1
21-27264142-T-G c.2103A>C p.A701= Synonymous 17/18 - 1
21-27264142-TGC-AAA c.2101_2103delinsTTT p.A701F Missense 17/18 - 1
21-27264143-G-A c.2102C>T p.A701V Missense 17/18 - 3
21-27264145-ACC-CCA c.2098_2100delinsTGG p.G700W Missense 17/18 - 1
21-27264145-A-G c.2100T>C p.G700= Synonymous 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 - 2
21-27264149-T-C c.2096A>G p.K699R 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
21-27264151-G-C c.2094C>G p.N698K Missense 17/18 - 3
21-27264153-T-C c.2092A>G p.N698D Missense 17/18 - 1
21-27264154-T-C c.2091A>G p.S697= Synonymous 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
21-27264161-AC-TT c.2083_2084delinsAA p.V695K Missense 17/18 - 1
21-27264162-C-T c.2083G>A p.V695M Missense 17/18 - 3
21-27264165-C-T c.2080G>A p.D694N Missense 17/18 - 120
21-27264166-T-A c.2079A>T p.E693D Missense 17/18 - 17
21-27264166-T-G c.2079A>C p.E693D Missense 17/18 - 16
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 - 21
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 - 235
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 - 3
21-27264168-C-G c.2077G>C p.E693Q Missense 17/18 - 222
21-27264168-C-T c.2077G>A p.E693K Missense 17/18 - 57
21-27264170-G-C c.2075C>G p.A692G Missense 17/18 - 66
21-27264170-G-T c.2075C>A p.A692E Missense 17/18 - 1
21-27264171-C-A c.2074G>T p.A692S Missense 17/18 - 3
21-27264173-AA-GC c.2071_2072delinsGC p.F691A Missense 17/18 - 2
21-27264175-G-T c.2070C>A p.F690L Missense 17/18 - 1
21-27264176-AA-GC c.2068_2069delinsGC p.F690A Missense 17/18 - 2
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
21-27264178-C-A c.2067G>T p.V689= Synonymous 17/18 - 1
21-27264178-C-G c.2067G>C p.V689= Synonymous 17/18 - 1
21-27264178-C-T c.2067G>A p.V689= Synonymous 17/18 - 1
21-27264179-A-G c.2066T>C p.V689A Missense 17/18 - 1
21-27264180-C-A c.2065G>T p.V689L Missense 17/18 - 1
21-27264180-C-T c.2065G>A p.V689M Missense 17/18 - 2
21-27264245-C-T c.2065-65G>A - IntronicSNV - 16/17 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
21-27268537-T-G c.2064+1348A>C - IntronicSNV - 16/17 1
21-27269838-T-C c.2064+47A>G - IntronicSNV - 16/17 1
21-27269847-A-G c.2064+38T>C - IntronicSNV - 16/17 1
21-27269864-G-A c.2064+21C>T - IntronicSNV - 16/17 1
21-27269882-T-C c.2064+3A>G - IntronicSNV - 16/17 1
21-27269886-A-G c.2063T>C p.L688S Missense 16/18 - 1
21-27269887-A-C c.2062T>G p.L688V Missense 16/18 - 1
21-27269887-A-G c.2062T>C p.L688= Synonymous 16/18 - 1
21-27269888-T-A c.2061A>T p.K687N Missense 16/18 - 17
21-27269888-T-G c.2061A>C p.K687N Missense 16/18 - 17
21-27269890-T-G c.2059A>C p.K687Q Missense 16/18 - 5
21-27269891-T-A c.2058A>T p.Q686H Missense 16/18 - 2
21-27269891-TTG-ACA c.2056_2058delinsTGT p.Q686C Missense 16/18 - 1
21-27269892-T-G c.2057A>C p.Q686P Missense 16/18 - 2
21-27269893-G-T c.2056C>A p.Q686K Missense 16/18 - 2
21-27269895-T-C c.2054A>G p.H685R Missense 16/18 - 3
21-27269897-A-T c.2052T>A p.H684Q Missense 16/18 - 1
21-27269898-T-C c.2051A>G p.H684R Missense 16/18 - 3
21-27269898-T-G c.2051A>C p.H684P Missense 16/18 - 1
21-27269900-A-C c.2049T>G p.V683= Synonymous 16/18 - 2
21-27269900-A-G c.2049T>C p.V683= Synonymous 16/18 - 2
21-27269900-A-T c.2049T>A p.V683= Synonymous 16/18 - 2
21-27269901-A-G c.2048T>C p.V683A Missense 16/18 - 1
21-27269902-C-T c.2047G>A p.V683I Missense 16/18 - 2
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 - 34
21-27269905-C-CA c.2043dup p.E682* Nonsense 16/18 - 1
21-27269907-T-A c.2042A>T p.Y681F Missense 16/18 - 1
21-27269907-TA-GC c.2041_2042delinsGC p.Y681A Missense 16/18 - 1
21-27269910-C-T c.2039G>A p.G680E Missense 16/18 - 1
21-27269911-C-G c.2038G>C p.G680R Missense 16/18 - 1
21-27269911-C-T c.2038G>A p.G680R Missense 16/18 - 1
21-27269912-T-A c.2037A>T p.S679= Synonymous 16/18 - 3
21-27269912-T-C c.2037A>G p.S679= Synonymous 16/18 - 1
21-27269912-T-G c.2037A>C p.S679= Synonymous 16/18 - 1
21-27269913-G-A c.2036C>T p.S679L Missense 16/18 - 2
21-27269913-G-T c.2036C>A p.S679* Nonsense 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 - 39
21-27269917-C-T c.2032G>A p.D678N Missense 16/18 - 33
21-27269919-T-C c.2030A>G p.H677R Missense 16/18 - 9
21-27269917-CATGTCGGA-C c.2024_2031del p.F675* Frameshift 16/18 - 1
21-27269922-C-A c.2027G>T p.R676L Missense 16/18 - 1
21-27269922-CG-TT c.2026_2027delinsAA p.R676K Missense 16/18 - 1
21-27269923-G-A c.2026C>T p.R676* Nonsense 16/18 - 5
21-27269923-G-C c.2026C>G p.R676G Missense 16/18 - 2
21-27269924-G-C c.2025C>G p.F675L Missense 16/18 - 1
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-A c.2020G>T p.E674* Nonsense 16/18 - 3
21-27269929-C-G c.2020G>C p.E674Q 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 - 108
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 - 265
21-27269935-C-T c.2014G>A p.D672N Missense 16/18 - 3
21-27269936-C-A c.2013G>T p.M671I Missense 16/18 - 1
21-27269936-CA-AAGGT c.2012_2013delinsACCTT p.M671delinsNL MultiAAMissense 16/18 - 1
21-27269936-CA-GT c.2012_2013delinsAC p.M671N Missense 16/18 - 5
21-27269936-CAT-AAC c.2011_2013delinsGTT p.M671V MultiAAMissense 16/18 - 3
21-27269936-C-G c.2013G>C p.M671I Missense 16/18 - 1
21-27269936-C-T c.2013G>A p.M671I Missense 16/18 - 1
21-27269938-T-A c.2011A>T p.M671L Missense 16/18 - 559
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 - 559
21-27269939-C-A c.2010G>T p.K670N Missense 16/18 - 1197
21-27269939-C-G c.2010G>C p.K670N Missense 16/18 - 1197
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 - 179
21-27269940-T-C c.2009A>G p.K670R Missense 16/18 - 4
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 - 4
21-27269944-C-G c.2005G>C p.V669L Missense 16/18 - 5
21-27269944-C-T c.2005G>A p.V669M Missense 16/18 - 1
21-27269946-T-C c.2003A>G p.E668G Missense 16/18 - 1
21-27269947-C-T c.2002G>A p.E668K Missense 16/18 - 3
21-27269949-G-A c.2000C>T p.S667F Missense 16/18 - 2
21-27269950-A-G c.1999T>C p.S667P Missense 16/18 - 1
21-27269952-A-G c.1997T>C p.I666T Missense 16/18 - 3
21-27269953-T-A c.1996A>T p.I666F Missense 16/18 - 1
21-27269954-C-A c.1995G>T p.E665D Missense 16/18 - 6
21-27269954-C-G c.1995G>C p.E665D Missense 16/18 - 7
21-27269956-C-T c.1993G>A p.E665K Missense 16/18 - 1
21-27269953-TCTC-T c.1993_1995del p.E665del InFrameDeletion 16/18 - 1
21-27269958-T-A c.1991A>T p.E664V Missense 16/18 - 2
21-27269959-C-G c.1990G>C p.E664Q Missense 16/18 - 4
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 - 3
21-27269961-G-A c.1988C>T p.T663M Missense 16/18 - 4
21-27269963-C-CTTACCAAAGCTCCTG c.1985_1986insCAGGAGCTTTGGTAA p.I661_K662insNRSFG InFrameInsertion 16/18 - 2
21-27269967-A-G c.1982T>C p.I661T Missense 16/18 - 1
21-27269970-T-C c.1979A>G p.N660S Missense 16/18 - 2
21-27269971-T-A c.1978A>T p.N660Y Missense 16/18 - 6
21-27269973-G-A c.1976C>T p.T659I Missense 16/18 - 1
21-27269973-G-T c.1976C>A p.T659K Missense 16/18 - 1
21-27269975-C-T c.1974G>A p.L658= Synonymous 16/18 - 2
21-27269977-A-G c.1972T>C p.L658= Synonymous 16/18 - 1
21-27269978-C-A c.1971G>T p.G657= Synonymous 16/18 - 1
21-27269978-C-G c.1971G>C p.G657= Synonymous 16/18 - 1
21-27269978-C-T c.1971G>A p.G657= Synonymous 16/18 - 2
21-27269980-C-T c.1969G>A p.G657R Missense 16/18 - 2
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 - 2
21-27270116-C-G c.1964-131G>C - IntronicSNV - 15/17 1
21-27270116-C-T c.1964-131G>A - IntronicSNV - 15/17 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
21-27277228-C-T c.1963+108G>A - IntronicSNV - 15/17 1
21-27277240-T-A c.1963+96A>T - IntronicSNV - 15/17 1
21-27277268-A-C c.1963+68T>G - IntronicSNV - 15/17 1
21-27277275-C-A c.1963+61G>T - IntronicSNV - 15/17 1
21-27277278-C-T c.1963+58G>A - IntronicSNV - 15/17 1
21-27277306-G-A c.1963+30C>T - IntronicSNV - 15/17 1
21-27277336-C-CT c.1962dup p.G655Rfs*14 SpliceDonorInsertion 15/18 - 1
21-27277337-T-A c.1962A>T p.P654= Synonymous 15/18 - 2
21-27277337-T-C c.1962A>G p.P654= Synonymous 15/18 - 3
21-27277337-T-G c.1962A>C p.P654= Synonymous 15/18 - 1
21-27277339-G-A c.1960C>T p.P654S Missense 15/18 - 1
21-27277339-G-C c.1960C>G p.P654A Missense 15/18 - 1
21-27277340-T-C c.1959A>G p.R653= Synonymous 15/18 - 1
21-27277341-C-A c.1958G>T p.R653L Missense 15/18 - 1
21-27277341-C-T c.1958G>A p.R653Q Missense 15/18 - 1
21-27277342-G-A c.1957C>T p.R653* Nonsense 15/18 - 2
21-27277342-G-C c.1957C>G p.R653G Missense 15/18 - 1
21-27277342-G-T c.1957C>A p.R653= Synonymous 15/18 - 1
21-27277343-A-G c.1956T>C p.T652= Synonymous 15/18 - 1
21-27277344-G-A c.1955C>T p.T652I Missense 15/18 - 1
21-27277345-T-A c.1954A>T p.T652S Missense 15/18 - 1
21-27277345-T-C c.1954A>G p.T652A Missense 15/18 - 4
21-27277346-G-A c.1953C>T p.T651= Synonymous 15/18 - 1
21-27277348-T-C c.1951A>G p.T651A Missense 15/18 - 2
21-27277356-C-G c.1943G>C p.R648P Missense 15/18 - 1
21-27277356-C-T c.1943G>A p.R648Q Missense 15/18 - 3
21-27277357-G-A c.1942C>T p.R648* Nonsense 15/18 - 2
21-27277357-G-C c.1942C>G p.R648G Missense 15/18 - 2
21-27277357-G-T c.1942C>A p.R648= Synonymous 15/18 - 2
21-27277358-G-A c.1941C>T p.D647= Synonymous 15/18 - 2
21-27277358-G-T c.1941C>A p.D647E Missense 15/18 - 2
21-27277360-C-A c.1939G>T p.D647Y Missense 15/18 - 2
21-27277360-C-T c.1939G>A p.D647N Missense 15/18 - 2
21-27277361-G-A c.1938C>T p.A646= Synonymous 15/18 - 4
21-27277364-A-C c.1935T>G p.A645= Synonymous 15/18 - 1
21-27277364-A-G c.1935T>C p.A645= Synonymous 15/18 - 1
21-27277364-A-T c.1935T>A p.A645= Synonymous 15/18 - 1
21-27277368-G-A c.1931C>T p.P644L Missense 15/18 - 1
21-27277369-G-A c.1930C>T p.P644S Missense 15/18 - 1
21-27277371-C-T c.1928G>A p.R643H Missense 15/18 - 1
21-27277372-G-A c.1927C>T p.R643C Missense 15/18 - 3
21-27277373-G-A c.1926C>T p.A642= Synonymous 15/18 - 2
21-27277373-G-T c.1926C>A p.A642= Synonymous 15/18 - 1
21-27277374-G-A c.1925C>T p.A642V Missense 15/18 - 2
21-27277378-C-G c.1921G>C p.D641H Missense 15/18 - 2
21-27277379-A-G c.1920T>C p.V640= Synonymous 15/18 - 1
21-27277381-C-T c.1918G>A p.V640I Missense 15/18 - 1
21-27277383-G-A c.1916C>T p.P639L Missense 15/18 - 1
21-27277383-G-T c.1916C>A p.P639H Missense 15/18 - 1
21-27277387-C-G c.1912G>C p.E638Q Missense 15/18 - 2
21-27277387-C-T c.1912G>A p.E638K Missense 15/18 - 3
21-27277389-A-G c.1910T>C p.V637A Missense 15/18 - 1
21-27277442-T-G c.1910-53A>C - IntronicSNV - 14/17 1
21-27277464-G-C c.1910-75C>G - IntronicSNV - 14/17 1
21-27277549-A-T c.1910-160T>A - IntronicSNV - 14/17 1
21-27277552-G-A c.1910-163C>T - IntronicSNV - 14/17 1
21-27277848-G-A c.1910-459C>T - IntronicSNV - 14/17 1
21-27277848-G-T c.1910-459C>A - IntronicSNV - 14/17 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 3
21-27280038-C-T c.1910-2649G>A - IntronicSNV - 14/17 3
21-27280653-A-C c.1910-3264T>G - IntronicSNV - 14/17 1
21-27281177-A-G c.1909+2876T>C - IntronicSNV - 14/17 1
21-27281186-G-A c.1909+2867C>T - IntronicSNV - 14/17 1
21-27284044-G-A c.1909+9C>T - IntronicSNV - 14/17 1
21-27284044-G-T c.1909+9C>A - IntronicSNV - 14/17 1
21-27284048-C-T c.1909+5G>A - IntronicSNV - 14/17 1
21-27284053-C-A c.1909G>T p.V637F Missense 14/18 - 1
21-27284053-C-T c.1909G>A p.V637I Missense 14/18 - 2
21-27284054-T-A c.1908A>T p.E636D Missense 14/18 - 1
21-27284056-C-G c.1906G>C p.E636Q Missense 14/18 - 1
21-27284056-C-T c.1906G>A p.E636K Missense 14/18 - 4
21-27284057-G-A c.1905C>T p.N635= Synonymous 14/18 - 2
21-27284060-T-C c.1902A>G p.E634= Synonymous 14/18 - 1
21-27284062-C-T c.1900G>A p.E634K Missense 14/18 - 1
21-27284063-T-C c.1899A>G p.T633= Synonymous 14/18 - 1
21-27284064-G-C c.1898C>G p.T633R Missense 14/18 - 1
21-27284065-T-A c.1897A>T p.T633S Missense 14/18 - 1
21-27284065-T-C c.1897A>G p.T633A Missense 14/18 - 1
21-27284069-G-T c.1893C>A p.A631= Synonymous 14/18 - 1
21-27284071-C-G c.1891G>C p.A631P Missense 14/18 - 1
21-27284072-T-C c.1890A>G p.P630= Synonymous 14/18 - 1
21-27284076-A-G c.1886T>C p.V629A Missense 14/18 - 1
21-27284076-ACAGAGTCAGCCC-A c.1874_1885del p.G625_S628del InFrameDeletion 14/18 - 3
21-27284079-G-A c.1883C>T p.S628F Missense 14/18 - 6
21-27284081-G-A c.1881C>T p.D627= Synonymous 14/18 - 1
21-27284082-T-G c.1880A>C p.D627A Missense 14/18 - 1
21-27284084-A-C c.1878T>G p.A626= Synonymous 14/18 - 2
21-27284084-A-G c.1878T>C p.A626= Synonymous 14/18 - 1
21-27284084-AG-CT c.1877_1878inv p.A626E Missense 14/18 - 1
21-27284084-A-T c.1878T>A p.A626= Synonymous 14/18 - 1
21-27284087-C-A c.1875G>T p.G625= Synonymous 14/18 - 1
21-27284087-CC-GT c.1874_1875delinsAC p.G625D Missense 14/18 - 2
21-27284087-C-G c.1875G>C p.G625= Synonymous 14/18 - 1
21-27284087-C-T c.1875G>A p.G625= Synonymous 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
21-27284088-C-T c.1874G>A p.G625E Missense 14/18 - 2
21-27284089-C-A c.1873G>T p.G625W Missense 14/18 - 1
21-27284094-G-A c.1868C>T p.S623F Missense 14/18 - 1
21-27284094-GA-CG c.1867_1868delinsCG p.S623R Missense 14/18 - 2
21-27284094-G-T c.1868C>A p.S623Y Missense 14/18 - 1
21-27284098-G-A c.1864C>T p.H622Y Missense 14/18 - 2
21-27284099-C-A c.1863G>T p.W621C Missense 14/18 - 2
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 - 10
21-27284104-G-A c.1858C>T p.P620S Missense 14/18 - 2
21-27284104-G-C c.1858C>G p.P620A Missense 14/18 - 5
21-27284108-G-A c.1854C>T p.L618= Synonymous 14/18 - 1
21-27284108-G-C c.1854C>G p.L618= Synonymous 14/18 - 1
21-27284108-G-T c.1854C>A p.L618= Synonymous 14/18 - 2
21-27284110-G-A c.1852C>T p.L618F Missense 14/18 - 1
21-27284113-C-T c.1849G>A p.D617N Missense 14/18 - 2
21-27284114-G-A c.1848C>T p.D616= Synonymous 14/18 - 2
21-27284116-C-T c.1846G>A p.D616N Missense 14/18 - 1
21-27284120-G-T c.1842C>A p.S614R Missense 14/18 - 1
21-27284122-T-C c.1840A>G p.S614G Missense 14/18 - 6
21-27284126-C-A c.1836G>T p.E612D Missense 14/18 - 1
21-27284126-C-G c.1836G>C p.E612D Missense 14/18 - 1
21-27284126-C-T c.1836G>A p.E612= Synonymous 14/18 - 1
21-27284128-C-G c.1834G>C p.E612Q Missense 14/18 - 1
21-27284128-C-T c.1834G>A p.E612K Missense 14/18 - 1
21-27284129-T-C c.1833A>G p.G611= Synonymous 14/18 - 2
21-27284130-C-G c.1832G>C p.G611A Missense 14/18 - 1
21-27284134-T-A c.1828A>T p.N610Y Missense 14/18 - 3
21-27284135-CAC-GAT c.1825_1827delinsATC p.V609I Missense 14/18 - 1
21-27284135-C-T c.1827G>A p.V609= Synonymous 14/18 - 1
21-27284136-A-T c.1826T>A p.V609E Missense 14/18 - 1
21-27284138-G-A c.1824C>T p.P608= Synonymous 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 - 11
21-27284153-G-A c.1809C>T p.T603= Synonymous 14/18 - 4
21-27284156-G-A c.1806C>T p.T602= Synonymous 14/18 - 2
21-27284158-T-C c.1804A>G p.T602A Missense 14/18 - 1
21-27284162-C-A c.1800G>T p.T600= Synonymous 14/18 - 1
21-27284162-C-G c.1800G>C p.T600= Synonymous 14/18 - 1
21-27284162-C-T c.1800G>A p.T600= Synonymous 14/18 - 1
21-27284163-G-A c.1799C>T p.T600M Missense 14/18 - 8
21-27284165-T-A c.1797A>T p.E599D Missense 14/18 - 1
21-27284165-T-G c.1797A>C p.E599D Missense 14/18 - 1
21-27284166-T-C c.1796A>G p.E599G Missense 14/18 - 1
21-27284167-C-G c.1795G>C p.E599Q Missense 14/18 - 1
21-27284167-C-T c.1795G>A p.E599K Missense 14/18 - 27
21-27284168-G-A c.1794C>T p.T598= Synonymous 14/18 - 1
21-27284172-A-C c.1790T>G p.L597W Missense 14/18 - 3
21-27284174-A-C c.1788T>G p.S596= Synonymous 14/18 - 2
21-27284174-A-G c.1788T>C p.S596= Synonymous 14/18 - 1
21-27284174-AG-TT c.1787_1788delinsAA p.S596* Nonsense 14/18 - 1
21-27284174-A-T c.1788T>A p.S596= Synonymous 14/18 - 1
21-27284175-G-A c.1787C>T p.S596F Missense 14/18 - 1
21-27284175-GA-TT c.1786_1787delinsAA p.S596N Missense 14/18 - 2
21-27284177-T-A c.1785A>T p.P595= Synonymous 14/18 - 1
21-27284180-C-A c.1782G>T p.M594I Missense 14/18 - 2
21-27284180-C-G c.1782G>C p.M594I Missense 14/18 - 1
21-27284180-C-T c.1782G>A p.M594I Missense 14/18 - 1
21-27284181-A-T c.1781T>A p.M594K Missense 14/18 - 1
21-27284182-T-C c.1780A>G p.M594V Missense 14/18 - 2
21-27284185-G-A c.1777C>T p.L593F Missense 14/18 - 1
21-27284187-G-A c.1775C>T p.A592V Missense 14/18 - 1
21-27284187-GC-CA c.1774_1775delinsTG p.A592C Missense 14/18 - 1
21-27284187-G-T c.1775C>A p.A592D Missense 14/18 - 1
21-27284191-C-T c.1771G>A p.D591N Missense 14/18 - 1
21-27284196-C-G c.1766G>C p.G589A Missense 14/18 - 1
21-27284197-C-G c.1765G>C p.G589R Missense 14/18 - 1
21-27284197-C-T c.1765G>A p.G589R Missense 14/18 - 2
21-27284201-A-G c.1761T>C p.S587= Synonymous 14/18 - 1
21-27284204-G-A c.1758C>T p.I586= Synonymous 14/18 - 1
21-27284205-A-G c.1757T>C p.I586T Missense 14/18 - 1
21-27284208-C-T c.1754G>A p.R585K Missense 14/18 - 1
21-27284211-G-C c.1751C>G p.P584R Missense 14/18 - 1
21-27284212-G-A c.1750C>T p.P584S Missense 14/18 - 3
21-27284214-T-C c.1748A>G p.E583G Missense 14/18 - 2
21-27284215-C-A c.1747G>T p.E583* Nonsense 14/18 - 1
21-27284215-TC-T c.1747del p.E583Nfs*15 Frameshift 14/18 - 1
21-27284220-A-G c.1742T>C p.I581T Missense 14/18 - 1
21-27284222-C-G c.1740G>C p.M580I Missense 14/18 - 1
21-27284223-CATGTT-C c.1735_1739del p.N579Dfs*2 Frameshift 14/18 - 1
21-27284224-T-C c.1738A>G p.M580V Missense 14/18 - 1
21-27284225-G-T c.1737C>A p.N579K Missense 14/18 - 2
21-27284230-C-A c.1732G>T p.A578S Missense 14/18 - 2
21-27284230-C-G c.1732G>C p.A578P Missense 14/18 - 1
21-27284230-C-T c.1732G>A p.A578T Missense 14/18 - 1
21-27284232-A-C c.1730T>G p.L577W Missense 14/18 - 1
21-27284234-G-A c.1728C>T p.V576= Synonymous 14/18 - 1
21-27284234-G-C c.1728C>G p.V576= Synonymous 14/18 - 1
21-27284234-G-T c.1728C>A p.V576= Synonymous 14/18 - 1
21-27284236-C-T c.1726G>A p.V576I Missense 14/18 - 3
21-27284239-C-A c.1723G>T p.D575Y Missense 14/18 - 1
21-27284239-C-T c.1723G>A p.D575N Missense 14/18 - 2
21-27284244-G-A c.1718C>T p.S573L Missense 14/18 - 1
21-27284244-G-C c.1718C>G p.S573* Nonsense 14/18 - 2
21-27284244-G-T c.1718C>A p.S573* Nonsense 14/18 - 2
21-27284248-A-T c.1714T>A p.Y572N Missense 14/18 - 1
21-27284249-G-C c.1713C>G p.N571K Missense 14/18 - 1
21-27284249-G-T c.1713C>A p.N571K Missense 14/18 - 1
21-27284250-T-G c.1712A>C p.N571T Missense 14/18 - 1
21-27284253-T-C c.1709A>G p.Q570R 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
21-27284257-C-A c.1705G>T p.E569* Nonsense 14/18 - 2
21-27284261-C-A c.1701G>T p.Q567H Missense 14/18 - 2
21-27284261-C-G c.1701G>C p.Q567H Missense 14/18 - 2
21-27284262-T-C c.1700A>G p.Q567R Missense 14/18 - 2
21-27284266-G-T c.1696C>A p.L566I Missense 14/18 - 1
21-27284269-G-A c.1693C>T p.L565= Synonymous 14/18 - 1
21-27284272-C-G c.1690G>C p.E564Q Missense 14/18 - 7
21-27284272-C-T c.1690G>A p.E564K Missense 14/18 - 3
21-27284381-G-A c.1688-107C>T - IntronicSNV - 13/17 1
21-27284393-G-A c.1688-119C>T - IntronicSNV - 13/17 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
21-27297469-G-C c.1688-13195C>G - IntronicSNV - 13/17 1
21-27298024-T-A c.1688-13750A>T - IntronicSNV - 13/17 1
21-27298071-A-ACC c.1688-13799_1688-13798dup - IntronicInsertion - 13/17 2
21-27298071-A-AC c.1688-13798dup - IntronicInsertion - 13/17 2
21-27298769-A-G c.1688-14495T>C - IntronicSNV - 13/17 2
21-27303673-G-A c.1688-19399C>T - IntronicSNV - 13/17 1
21-27303673-G-T c.1688-19399C>A - IntronicSNV - 13/17 1
21-27304252-C-T c.1688-19978G>A - IntronicSNV - 13/17 1
21-27306721-C-T c.1687+20183G>A - IntronicSNV - 13/17 1
21-27310253-AT-A c.1687+16650del - IntronicDeletion - 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
21-27314826-G-C c.1687+12078C>G - 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
21-27318366-T-C c.1687+8538A>G - IntronicSNV - 13/17 1
21-27318371-C-T c.1687+8533G>A - IntronicSNV - 13/17 1
21-27318418-G-C c.1687+8486C>G - IntronicSNV - 13/17 2
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
21-27323124-G-C c.1687+3780C>G - IntronicSNV - 13/17 1
21-27323618-G-A c.1687+3286C>T - IntronicSNV - 13/17 1
21-27323704-A-C c.1687+3200T>G - IntronicSNV - 13/17 2
21-27325288-G-A c.1687+1616C>T - IntronicSNV - 13/17 1
21-27326641-C-T c.1687+263G>A - IntronicSNV - 13/17 1
21-27326756-T-A c.1687+148A>T - IntronicSNV - 13/17 3
21-27326756-T-G c.1687+148A>C - IntronicSNV - 13/17 2
21-27326810-T-A c.1687+94A>T - IntronicSNV - 13/17 1
21-27326859-G-A c.1687+45C>T - IntronicSNV - 13/17 8
21-27326901-T-C c.1687+3A>G - IntronicSNV - 13/17 1
21-27326904-C-G c.1687G>C p.D563H Missense 13/18 - 1
21-27326907-C-T c.1684G>A p.V562I Missense 13/18 - 5
21-27326911-A-T c.1680T>A p.D560E Missense 13/18 - 1
21-27326912-T-C c.1679A>G p.D560G Missense 13/18 - 1
21-27326915-T-C c.1676A>G p.Q559R Missense 13/18 - 1
21-27326920-C-A c.1671G>T p.E557D Missense 13/18 - 1
21-27326920-C-G c.1671G>C p.E557D Missense 13/18 - 1
21-27326922-C-T c.1669G>A p.E557K Missense 13/18 - 1
21-27326924-T-C c.1667A>G p.E556G Missense 13/18 - 1
21-27326925-C-T c.1666G>A p.E556K Missense 13/18 - 4
21-27326926-G-A c.1665C>T p.A555= Synonymous 13/18 - 1
21-27326926-G-C c.1665C>G p.A555= Synonymous 13/18 - 1
21-27326926-G-T c.1665C>A p.A555= Synonymous 13/18 - 1
21-27326928-C-T c.1663G>A p.A555T Missense 13/18 - 3
21-27326929-C-T c.1662G>A p.V554= Synonymous 13/18 - 1
21-27326931-C-G c.1660G>C p.V554L Missense 13/18 - 1
21-27326933-G-A c.1658C>T p.A553V Missense 13/18 - 1
21-27326933-G-C c.1658C>G p.A553G Missense 13/18 - 2
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
21-27326937-G-A c.1654C>T p.P552S Missense 13/18 - 1
21-27326937-G-C c.1654C>G p.P552A Missense 13/18 - 1
21-27326939-A-C c.1652T>G p.V551G Missense 13/18 - 1
21-27326940-C-T c.1651G>A p.V551M Missense 13/18 - 2
21-27326941-G-A c.1650C>T p.N550= Synonymous 13/18 - 3
21-27326942-TTG-T c.1647_1648del p.Y549* Frameshift 13/18 - 1
21-27326947-G-A c.1644C>T p.L548= Synonymous 13/18 - 1
21-27326952-G-A c.1639C>T p.L547= Synonymous 13/18 - 1
21-27326953-GGA-CTC c.1636_1638delinsGAG p.S546E Missense 13/18 - 1
21-27326955-A-C c.1636T>G p.S546A Missense 13/18 - 2
21-27326955-A-T c.1636T>A p.S546T Missense 13/18 - 1
21-27326958-G-C c.1633C>G p.L545V Missense 13/18 - 1
21-27326960-G-A c.1631C>T p.S544F Missense 13/18 - 1
21-27326967-T-C c.1624A>G p.N542D Missense 13/18 - 1
21-27326968-C-A c.1623G>T p.M541I Missense 13/18 - 2
21-27326968-C-G c.1623G>C p.M541I Missense 13/18 - 1
21-27326968-C-T c.1623G>A p.M541I Missense 13/18 - 5
21-27326969-A-C c.1622T>G p.M541R Missense 13/18 - 1
21-27326969-A-T c.1622T>A p.M541K Missense 13/18 - 1
21-27326971-GC-TT c.1619_1620delinsAA p.R540Q Missense 13/18 - 1
21-27326972-C-T c.1619G>A p.R540H Missense 13/18 - 2
21-27326973-G-A c.1618C>T p.R540C Missense 13/18 - 2
21-27326974-C-A c.1617G>T p.E539D Missense 13/18 - 1
21-27326976-C-A c.1615G>T p.E539* Nonsense 13/18 - 1
21-27326976-C-G c.1615G>C p.E539Q Missense 13/18 - 1
21-27326976-C-T c.1615G>A p.E539K Missense 13/18 - 1
21-27326977-A-G c.1614T>C p.Y538= Synonymous 13/18 - 3
21-27326978-T-A c.1613A>T p.Y538F Missense 13/18 - 1
21-27326979-A-G c.1612T>C p.Y538H Missense 13/18 - 10
21-27326987-C-G c.1604G>C p.R535P Missense 13/18 - 1
21-27326987-C-T c.1604G>A p.R535H Missense 13/18 - 2
21-27326988-G-A c.1603C>T p.R535C Missense 13/18 - 4
21-27326994-G-A c.1597C>T p.H533Y Missense 13/18 - 1
21-27326996-G-A c.1595C>T p.T532I Missense 13/18 - 2
21-27326996-G-C c.1595C>G p.T532R Missense 13/18 - 1
21-27326998-C-T c.1593G>A p.M531I Missense 13/18 - 1
21-27327000-T-C c.1591A>G p.M531V Missense 13/18 - 1
21-27327001-A-C c.1590T>G p.V530= Synonymous 13/18 - 1
21-27327001-A-G c.1590T>C p.V530= Synonymous 13/18 - 1
21-27327001-A-T c.1590T>A p.V530= Synonymous 13/18 - 1
21-27327002-A-G c.1589T>C p.V530A Missense 13/18 - 1
21-27327003-C-T c.1588G>A p.V530I Missense 13/18 - 1
21-27327100-G-A c.1588-97C>T - IntronicSNV - 12/17 4
21-27327100-G-C c.1588-97C>G - IntronicSNV - 12/17 4
21-27327100-G-T c.1588-97C>A - IntronicSNV - 12/17 4
21-27327862-G-C c.1587+79C>G - IntronicSNV - 12/17 6
21-27327871-T-G c.1587+70A>C - IntronicSNV - 12/17 1
21-27327915-A-C c.1587+26T>G - IntronicSNV - 12/17 2
21-27327918-A-G c.1587+23T>C - IntronicSNV - 12/17 2
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 - 6
21-27327949-G-A c.1579C>T p.R527W Missense 12/18 - 1
21-27327950-G-A c.1578C>T p.I526= Synonymous 12/18 - 1
21-27327955-G-C c.1573C>G p.Q525E Missense 12/18 - 1
21-27327957-G-A c.1571C>T p.A524V Missense 12/18 - 1
21-27327958-C-A c.1570G>T p.A524S Missense 12/18 - 2
21-27327958-C-T c.1570G>A p.A524T Missense 12/18 - 1
21-27327959-G-A c.1569C>T p.A523= Synonymous 12/18 - 1
21-27327959-G-C c.1569C>G p.A523= Synonymous 12/18 - 1
21-27327959-G-T c.1569C>A p.A523= Synonymous 12/18 - 1
21-27327967-T-C c.1561A>G p.K521E Missense 12/18 - 1
21-27327969-G-T c.1559C>A p.P520H Missense 12/18 - 1
21-27327970-G-A c.1558C>T p.P520S Missense 12/18 - 2
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 - 4
21-27327975-A-G c.1553T>C p.V518A Missense 12/18 - 1
21-27327977-C-A c.1551G>T p.M517I Missense 12/18 - 3
21-27327977-C-G c.1551G>C p.M517I Missense 12/18 - 3
21-27327977-C-T c.1551G>A p.M517I Missense 12/18 - 3
21-27327979-T-G c.1549A>C p.M517L Missense 12/18 - 1
21-27327981-C-A c.1547G>T p.R516L Missense 12/18 - 1
21-27327981-C-T c.1547G>A p.R516H Missense 12/18 - 1
21-27327982-G-A c.1546C>T p.R516C Missense 12/18 - 7
21-27327983-C-T c.1545G>A p.V515= Synonymous 12/18 - 1
21-27327985-C-A c.1543G>T p.V515L Missense 12/18 - 1
21-27327985-C-G c.1543G>C p.V515L Missense 12/18 - 1
21-27327985-C-T c.1543G>A p.V515M Missense 12/18 - 1
21-27327987-T-C c.1541A>G p.H514R Missense 12/18 - 1
21-27327988-G-A c.1540C>T p.H514Y Missense 12/18 - 1
21-27327991-C-T c.1537G>A p.E513K Missense 12/18 - 3
21-27327992-G-A c.1536C>T p.F512= Synonymous 12/18 - 8
21-27327997-G-A c.1531C>T p.H511Y Missense 12/18 - 1
21-27327998-C-A c.1530G>T p.K510N Missense 12/18 - 3
21-27327998-C-G c.1530G>C p.K510N Missense 12/18 - 7
21-27327999-T-C c.1529A>G p.K510R Missense 12/18 - 1
21-27328001-T-A c.1527A>T p.L509= Synonymous 12/18 - 1
21-27328001-T-C c.1527A>G p.L509= Synonymous 12/18 - 1
21-27328001-T-G c.1527A>C p.L509= Synonymous 12/18 - 1
21-27328003-G-A c.1525C>T p.L509= Synonymous 12/18 - 1
21-27328004-G-A c.1524C>T p.T508= Synonymous 12/18 - 2
21-27328004-G-C c.1524C>G p.T508= Synonymous 12/18 - 3
21-27328004-GG-CA c.1523_1524delinsTG p.T508M Missense 12/18 - 1
21-27328004-G-T c.1524C>A p.T508= Synonymous 12/18 - 2
21-27328006-T-C c.1522A>G p.T508A Missense 12/18 - 2
21-27328008-T-A c.1520A>T p.H507L Missense 12/18 - 1
21-27328009-G-A c.1519C>T p.H507Y Missense 12/18 - 1
21-27328012-G-A c.1516C>T p.Q506* Nonsense 12/18 - 1
21-27328013-TCT-ACA c.1513_1515delinsTGT p.R505C Missense 12/18 - 1
21-27328013-TCT-ATG c.1513_1515delinsCAT p.R505H Missense 12/18 - 1
21-27328014-C-A c.1514G>T p.R505I Missense 12/18 - 1
21-27328014-C-CGTTT c.1513_1514insAAAC p.R505Kfs*36 Frameshift 12/18 - 1
21-27328016-G-A c.1512C>T p.D504= Synonymous 12/18 - 1
21-27328016-G-C c.1512C>G p.D504E Missense 12/18 - 2
21-27328016-G-T c.1512C>A p.D504E Missense 12/18 - 1
21-27328018-C-T c.1510G>A p.D504N Missense 12/18 - 1
21-27328020-T-C c.1508A>G p.K503R Missense 12/18 - 1
21-27328024-G-A c.1504C>T p.Q502* Nonsense 12/18 - 2
21-27328024-G-C c.1504C>G p.Q502E Missense 12/18 - 1
21-27328025-T-C c.1503A>G p.E501= Synonymous 12/18 - 1
21-27328025-TTC-ACA c.1501_1503delinsTGT p.E501C Missense 12/18 - 1
21-27328027-C-T c.1501G>A p.E501K 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
21-27328029-G-C c.1499C>G p.A500G Missense 12/18 - 1
21-27328030-C-T c.1498G>A p.A500T Missense 12/18 - 8
21-27328032-C-G c.1496G>C p.R499P Missense 12/18 - 1
21-27328032-C-T c.1496G>A p.R499H Missense 12/18 - 3
21-27328033-G-A c.1495C>T p.R499C Missense 12/18 - 3
21-27328034-G-A c.1494C>T p.V498= Synonymous 12/18 - 1
21-27328034-G-C c.1494C>G p.V498= Synonymous 12/18 - 1
21-27328034-G-T c.1494C>A p.V498= Synonymous 12/18 - 1
21-27328036-C-A c.1492G>T p.V498F Missense 12/18 - 1
21-27328036-C-T c.1492G>A p.V498I Missense 12/18 - 3
21-27328037-A-T c.1491T>A p.Y497* Nonsense 12/18 - 1
21-27328042-T-C c.1486A>G p.K496E Missense 12/18 - 1
21-27328042-T-G c.1486A>C p.K496Q Missense 12/18 - 10
21-27328043-CT-C c.1484del p.K495Rfs*15 Frameshift 12/18 - 1
21-27328049-C-A c.1479G>T p.M493I Missense 12/18 - 2
21-27328049-C-G c.1479G>C p.M493I Missense 12/18 - 1
21-27328049-C-T c.1479G>A p.M493I Missense 12/18 - 1
21-27328053-T-C c.1475A>G p.N492S Missense 12/18 - 5
21-27328055-G-C c.1473C>G p.F491L Missense 12/18 - 1
21-27328055-G-T c.1473C>A p.F491L Missense 12/18 - 1
21-27328057-A-G c.1471T>C p.F491L Missense 12/18 - 1
21-27328060-C-T c.1468G>A p.V490M Missense 12/18 - 3
21-27328061-G-A c.1467C>T p.H489= Synonymous 12/18 - 1
21-27328061-G-T c.1467C>A p.H489Q Missense 12/18 - 1
21-27328062-TG-GC c.1465_1466delinsGC p.H489A Missense 12/18 - 1
21-27328064-ACG-CCA c.1462_1464delinsTGG p.R488W Missense 12/18 - 1
21-27328065-C-T c.1463G>A p.R488H Missense 12/18 - 1
21-27328066-G-A c.1462C>T p.R488C Missense 12/18 - 2
21-27328068-G-A c.1460C>T p.P487L Missense 12/18 - 2
21-27328133-G-A c.1459-64C>T - IntronicSNV - 11/17 1
21-27328175-T-C c.1459-106A>G - IntronicSNV - 11/17 8
21-27328235-T-C c.1459-166A>G - IntronicSNV - 11/17 1
21-27328245-C-G c.1459-176G>C - IntronicSNV - 11/17 1
21-27328245-C-T c.1459-176G>A - IntronicSNV - 11/17 1
21-27328391-A-T c.1459-322T>A - IntronicSNV - 11/17 1
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
21-27331969-C-T c.1459-3900G>A - IntronicSNV - 11/17 1
21-27332646-A-C c.1459-4577T>G - IntronicSNV - 11/17 1
21-27332646-A-G c.1459-4577T>C - IntronicSNV - 11/17 1
21-27332679-T-A c.1459-4610A>T - IntronicSNV - 11/17 1
21-27332679-T-G c.1459-4610A>C - IntronicSNV - 11/17 1
21-27332690-T-G c.1459-4621A>C - IntronicSNV - 11/17 1
21-27334737-A-G c.1459-6668T>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 2
21-27337916-T-C c.1458+9467A>G - 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
21-27340014-C-T c.1458+7369G>A - 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 3
21-27344237-A-C c.1458+3146T>G - IntronicSNV - 11/17 1
21-27347364-C-T c.1458+19G>A - IntronicSNV - 11/17 1
21-27347381-A-G c.1458+2T>C - IntronicSNV - 11/17 1
21-27347381-AC-A c.1458+1del - IntronicDeletion 11/18 - 2
21-27347384-C-T c.1457G>A p.R486Q Missense 11/18 - 2
21-27347385-G-A c.1456C>T p.R486W Missense 11/18 - 2
21-27347387-G-A c.1454C>T p.P485L Missense 11/18 - 1
21-27347389-A-C c.1452T>G p.P484= Synonymous 11/18 - 3
21-27347389-A-G c.1452T>C p.P484= Synonymous 11/18 - 3
21-27347389-A-T c.1452T>A p.P484= Synonymous 11/18 - 4
21-27347391-G-A c.1450C>T p.P484S Missense 11/18 - 2
21-27347394-C-G c.1447G>C p.V483L Missense 11/18 - 1
21-27347396-G-A c.1445C>T p.A482V Missense 11/18 - 1
21-27347406-C-A c.1435G>T p.A479S Missense 11/18 - 5
21-27347406-C-T c.1435G>A p.A479T Missense 11/18 - 1
21-27347407-G-A c.1434C>T p.T478= Synonymous 11/18 - 1
21-27347407-GG-CT c.1433_1434delinsAG p.T478K Missense 11/18 - 1
21-27347411-A-G c.1430T>C p.I477T Missense 11/18 - 1
21-27347416-G-A c.1425C>T p.N475= Synonymous 11/18 - 1
21-27347416-G-C c.1425C>G p.N475K Missense 11/18 - 1
21-27347416-G-T c.1425C>A p.N475K Missense 11/18 - 1
21-27347420-T-C c.1421A>G p.E474G Missense 11/18 - 2
21-27347423-AG-TC c.1417_1418delinsGA p.L473E Missense 11/18 - 1
21-27347430-G-T c.1411C>A p.L471M Missense 11/18 - 1
21-27347431-G-A c.1410C>T p.R470= Synonymous 11/18 - 2
21-27347431-G-C c.1410C>G p.R470= Synonymous 11/18 - 2
21-27347431-G-T c.1410C>A p.R470= Synonymous 11/18 - 3
21-27347432-C-A c.1409G>T p.R470L Missense 11/18 - 1
21-27347432-C-T c.1409G>A p.R470H Missense 11/18 - 2
21-27347433-G-A c.1408C>T p.R470C Missense 11/18 - 3
21-27347434-G-A c.1407C>T p.R469= Synonymous 11/18 - 1
21-27347435-C-T c.1406G>A p.R469H Missense 11/18 - 6
21-27347436-G-A c.1405C>T p.R469C Missense 11/18 - 2
21-27347437-GC-TT c.1403_1404delinsAA p.R468Q Missense 11/18 - 1
21-27347438-C-T c.1403G>A p.R468H Missense 11/18 - 5
21-27347439-G-A c.1402C>T p.R468C Missense 11/18 - 1
21-27347451-T-C c.1390A>G p.M464V Missense 11/18 - 1
21-27347452-G-A c.1389C>T p.A463= Synonymous 11/18 - 1
21-27347452-G-C c.1389C>G p.A463= Synonymous 11/18 - 1
21-27347452-G-T c.1389C>A p.A463= Synonymous 11/18 - 1
21-27347458-C-A c.1383G>T p.V461= Synonymous 11/18 - 2
21-27347458-C-G c.1383G>C p.V461= Synonymous 11/18 - 1
21-27347458-C-T c.1383G>A p.V461= Synonymous 11/18 - 1
21-27347461-TCT-ACA c.1378_1380delinsTGT p.R460C Missense 11/18 - 1
21-27347461-TCT-ATG c.1378_1380delinsCAT p.R460H Missense 11/18 - 1
21-27347463-CTG-C c.1377_1378del p.R460Sfs*7 Frameshift 11/18 - 1
21-27347463-T-A c.1378A>T p.R460* Nonsense 11/18 - 1
21-27347465-G-A c.1376C>T p.A459V Missense 11/18 - 1
21-27347467-C-A c.1374G>T p.M458I Missense 11/18 - 1
21-27347477-T-C c.1364A>G p.E455G Missense 11/18 - 2
21-27347478-C-T c.1363G>A p.E455K Missense 11/18 - 1
21-27347479-CAC-GAT c.1360_1362delinsATC p.V454I Missense 11/18 - 1
21-27347479-C-T c.1362G>A p.V454= Synonymous 11/18 - 1
21-27347480-A-C c.1361T>G p.V454G Missense 11/18 - 1
21-27347481-C-G c.1360G>C p.V454L Missense 11/18 - 1
21-27347482-C-A c.1359G>T p.L453= Synonymous 11/18 - 1
21-27347485-C-A c.1356G>T p.Q452H Missense 11/18 - 1
21-27347485-C-G c.1356G>C p.Q452H Missense 11/18 - 1
21-27347487-G-C c.1354C>G p.Q452E Missense 11/18 - 1
21-27347487-GCTGT-G c.1350_1353del p.R450Sfs*44 Frameshift 11/18 - 1
21-27347491-T-C c.1350A>G p.R450= Synonymous 11/18 - 1
21-27347491-TCT-ATG c.1348_1350delinsCAT p.R450H Missense 11/18 - 1
21-27347493-T-G c.1348A>C p.R450= Synonymous 11/18 - 1
21-27347492-C-T c.1349G>A p.R450K Missense 11/18 - 4
21-27347496-C-T c.1345G>A p.E449K Missense 11/18 - 1
21-27347497-G-A c.1344C>T p.N448= Synonymous 11/18 - 1
21-27347497-G-C c.1344C>G p.N448K Missense 11/18 - 1
21-27347497-G-T c.1344C>A p.N448K Missense 11/18 - 1
21-27347502-C-A c.1339G>T p.A447S Missense 11/18 - 1
21-27347505-C-T c.1336G>A p.A446T Missense 11/18 - 1
21-27347507-T-G c.1334A>C p.E445A Missense 11/18 - 1
21-27347512-T-C c.1329A>G p.E443= Synonymous 11/18 - 1
21-27347514-C-T c.1327G>A p.E443K Missense 11/18 - 1
21-27347517-A-G c.1324T>C p.L442= Synonymous 11/18 - 1
21-27347518-A-C c.1323T>G p.S441= Synonymous 11/18 - 1
21-27347518-A-G c.1323T>C p.S441= Synonymous 11/18 - 2
21-27347518-A-T c.1323T>A p.S441= Synonymous 11/18 - 1
21-27347519-G-A c.1322C>T p.S441F Missense 11/18 - 1
21-27347519-G-T c.1322C>A p.S441Y Missense 11/18 - 2
21-27347520-A-G c.1321T>C p.S441P Missense 11/18 - 1
21-27347520-A-T c.1321T>A p.S441T Missense 11/18 - 2
21-27347523-C-G c.1318G>C p.E440Q Missense 11/18 - 1
21-27347524-C-A c.1317G>T p.V439= Synonymous 11/18 - 1
21-27347524-C-G c.1317G>C p.V439= Synonymous 11/18 - 1
21-27347524-C-T c.1317G>A p.V439= Synonymous 11/18 - 2
21-27347525-A-G c.1316T>C p.V439A Missense 11/18 - 1
21-27347527-T-A c.1314A>T p.K438N Missense 11/18 - 2
21-27347527-T-G c.1314A>C p.K438N Missense 11/18 - 2
21-27347528-T-C c.1313A>G p.K438R Missense 11/18 - 1
21-27347528-TT-GC c.1312_1313delinsGC p.K438A Missense 11/18 - 1
21-27347535-G-A c.1306C>T p.Q436* Nonsense 11/18 - 5
21-27347536-G-A c.1305C>T p.F435= Synonymous 11/18 - 2
21-27347568-G-A c.1300-27C>T - IntronicSNV - 10/17 1
21-27348253-G-A c.1299+14C>T - IntronicSNV - 10/17 1
21-27348258-A-C c.1299+9T>G - IntronicSNV - 10/17 1
21-27348258-A-G c.1299+9T>C - IntronicSNV - 10/17 1
21-27348270-G-A c.1296C>T p.I432= Synonymous 10/18 - 1
21-27348271-A-G c.1295T>C p.I432T Missense 10/18 - 1
21-27348272-T-G c.1294A>C p.I432L Missense 10/18 - 1
21-27348275-C-A c.1291G>T p.V431F Missense 10/18 - 1
21-27348275-C-G c.1291G>C p.V431L Missense 10/18 - 1
21-27348275-C-T c.1291G>A p.V431I Missense 10/18 - 1
21-27348279-C-T c.1287G>A p.K429= Synonymous 10/18 - 1
21-27348284-T-C c.1282A>G p.K428E Missense 10/18 - 1
21-27348285-A-C c.1281T>G p.D427E Missense 10/18 - 1
21-27348285-A-T c.1281T>A p.D427E Missense 10/18 - 1
21-27348286-T-A c.1280A>T p.D427V Missense 10/18 - 1
21-27348287-C-G c.1279G>C p.D427H Missense 10/18 - 1
21-27348287-C-T c.1279G>A p.D427N Missense 10/18 - 2
21-27348289-G-A c.1277C>T p.A426V Missense 10/18 - 3
21-27348293-T-C c.1273A>G p.K425E Missense 10/18 - 1
21-27348294-A-C c.1272T>G p.P424= Synonymous 10/18 - 2
21-27348294-A-G c.1272T>C p.P424= Synonymous 10/18 - 1
21-27348294-A-T c.1272T>A p.P424= Synonymous 10/18 - 1
21-27348297-C-T c.1269G>A p.L423= Synonymous 10/18 - 1
21-27348299-A-G c.1267T>C p.L423= Synonymous 10/18 - 1
21-27348304-TT-GC c.1261_1262delinsGC p.K421A Missense 10/18 - 1
21-27348307-G-A c.1259C>T p.A420V Missense 10/18 - 1
21-27348309-T-G c.1257A>C p.Q419H Missense 10/18 - 1
21-27348308-CT-C c.1257del p.A420Qfs*75 Frameshift 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 - 2
21-27348314-G-A c.1252C>T p.R418C Missense 10/18 - 3
21-27348316-T-C c.1250A>G p.E417G Missense 10/18 - 2
21-27348317-C-T c.1249G>A p.E417K Missense 10/18 - 1
21-27348319-G-A c.1247C>T p.A416V Missense 10/18 - 1
21-27348322-CTCTT-C c.1241_1244del p.E414Gfs*80 Frameshift 10/18 - 1
21-27348328-CA-GC c.1237_1238delinsGC p.W413A Missense 10/18 - 1
21-27348333-TC-AT c.1232_1233delinsAT p.R411N Missense 10/18 - 1
21-27348334-C-T c.1232G>A p.R411K Missense 10/18 - 1
21-27348336-C-A c.1230G>T p.M410I Missense 10/18 - 2
21-27348336-C-G c.1230G>C p.M410I Missense 10/18 - 2
21-27348336-C-T c.1230G>A p.M410I Missense 10/18 - 2
21-27348372-A-G c.1225-31T>C - IntronicSNV - 9/17 8
21-27348386-C-A c.1225-45G>T - IntronicSNV - 9/17 1
21-27348447-A-G c.1225-106T>C - IntronicSNV - 9/17 4
21-27348460-T-A c.1225-119A>T - IntronicSNV - 9/17 4
21-27348460-T-G c.1225-119A>C - IntronicSNV - 9/17 4
21-27352728-A-G c.1224+1929T>C - IntronicSNV - 9/17 1
21-27353033-C-G c.1224+1624G>C - IntronicSNV - 9/17 1
21-27354530-T-A c.1224+127A>T - IntronicSNV - 9/17 1
21-27354603-C-A c.1224+54G>T - IntronicSNV - 9/17 1
21-27354624-C-T c.1224+33G>A - IntronicSNV - 9/17 1
21-27354637-G-A c.1224+20C>T - IntronicSNV - 9/17 1
21-27354657-C-A c.1224G>T p.Q408H Missense 9/18 - 1
21-27354657-C-T c.1224G>A p.Q408= Synonymous 9/18 - 1
21-27354659-G-A c.1222C>T p.Q408* Nonsense 9/18 - 1
21-27354659-G-GT c.1221_1222insA p.Q408Tfs*18 Frameshift 9/18 - 2
21-27354660-G-A c.1221C>T p.S407= Synonymous 9/18 - 5
21-27354658-T-TG c.1222dup p.Q408Pfs*18 SpliceDonorInsertion 9/18 - 2
21-27354662-A-T c.1219T>A p.S407T Missense 9/18 - 1
21-27354665-T-C c.1216A>G p.M406V Missense 9/18 - 2
21-27354666-T-C c.1215A>G p.R405= Synonymous 9/18 - 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
21-27354674-G-A c.1207C>T p.R403* Nonsense 9/18 - 1
21-27354677-G-A c.1204C>T p.H402Y Missense 9/18 - 2
21-27354680-T-C c.1201A>G p.K401E Missense 9/18 - 1
21-27354683-C-T c.1198G>A p.A400T Missense 9/18 - 1
21-27354684-C-T c.1197G>A p.E399= Synonymous 9/18 - 2
21-27354686-C-A c.1195G>T p.E399* Nonsense 9/18 - 1
21-27354686-C-G c.1195G>C p.E399Q Missense 9/18 - 4
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 - 2
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 - 4
21-27354691-C-G c.1190G>C p.R397T Missense 9/18 - 2
21-27354691-CT-TG c.1189_1190delinsCA p.R397Q Missense 9/18 - 1
21-27354695-C-T c.1186G>A p.E396K Missense 9/18 - 1
21-27354696-T-A c.1185A>T p.K395N Missense 9/18 - 1
21-27354703-T-C c.1178A>G p.K393R Missense 9/18 - 1
21-27354704-T-C c.1177A>G p.K393E Missense 9/18 - 3
21-27354704-T-TA c.1176_1177insT p.K393* Nonsense 9/18 - 1
21-27354707-G-C c.1174C>G p.Q392E Missense 9/18 - 1
21-27354708-G-A c.1173C>T p.F391= Synonymous 9/18 - 1
21-27354708-G-C c.1173C>G p.F391L Missense 9/18 - 1
21-27354708-G-T c.1173C>A p.F391L Missense 9/18 - 1
21-27354710-A-C c.1171T>G p.F391V Missense 9/18 - 2
21-27354710-A-G c.1171T>C p.F391L Missense 9/18 - 1
21-27354716-C-T c.1165G>A p.A389T Missense 9/18 - 1
21-27354723-A-G c.1158T>C p.N386= Synonymous 9/18 - 1
21-27354724-T-C c.1157A>G p.N386S Missense 9/18 - 1
21-27354727-T-G c.1154A>C p.E385A Missense 9/18 - 1
21-27354728-C-A c.1153G>T p.E385* Nonsense 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
21-27354732-C-T c.1149G>A p.G383= Synonymous 9/18 - 1
21-27354733-C-A c.1148G>T p.G383V Missense 9/18 - 1
21-27354737-G-A c.1144C>T p.P382S Missense 9/18 - 2
21-27354742-T-C c.1139A>G p.E380G Missense 9/18 - 1
21-27354743-C-A c.1138G>T p.E380* Nonsense 9/18 - 1
21-27354743-C-G c.1138G>C p.E380Q Missense 9/18 - 1
21-27354743-C-T c.1138G>A p.E380K Missense 9/18 - 3
21-27354748-T-C c.1133A>G p.Y378C Missense 9/18 - 1
21-27354755-C-T c.1126G>A p.D376N Missense 9/18 - 1
21-27354757-A-G c.1124T>C p.V375A Missense 9/18 - 1
21-27354758-C-A c.1123G>T p.V375F Missense 9/18 - 1
21-27354758-C-T c.1123G>A p.V375I Missense 9/18 - 5
21-27354759-G-A c.1122C>T p.A374= Synonymous 9/18 - 2
21-27354760-G-T c.1121C>A p.A374D Missense 9/18 - 1
21-27354761-C-G c.1120G>C p.A374P Missense 9/18 - 1
21-27354767-G-A c.1114C>T p.P372S Missense 9/18 - 2
21-27354767-G-C c.1114C>G p.P372A Missense 9/18 - 1
21-27354768-GGGT-G c.1111_1113del p.T371del InFrameDeletion 9/18 - 1
21-27354770-T-C c.1111A>G p.T371A Missense 9/18 - 2
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
21-27354775-G-A c.1106C>T p.A369V Missense 9/18 - 3
21-27354775-G-C c.1106C>G p.A369G Missense 9/18 - 1
21-27354776-C-T c.1105G>A p.A369T Missense 9/18 - 4
21-27354779-C-G c.1102G>C p.A368P Missense 9/18 - 1
21-27354780-T-A c.1101A>T p.T367= Synonymous 9/18 - 1
21-27354780-T-C c.1101A>G p.T367= Synonymous 9/18 - 2
21-27354780-T-G c.1101A>C p.T367= Synonymous 9/18 - 1
21-27354783-TGT-CCA c.1096_1098delinsTGG p.T366W Missense 9/18 - 1
21-27354784-G-A c.1097C>T p.T366I Missense 9/18 - 1
21-27354785-T-A c.1096A>T p.T366S Missense 9/18 - 1
21-27354785-T-C c.1096A>G p.T366A Missense 9/18 - 1
21-27354788-G-A c.1093C>T p.P365S Missense 9/18 - 2
21-27354790-A-G c.1091T>C p.L364P Missense 9/18 - 2
21-27354812-G-A c.1091-22C>T - IntronicSNV - 8/17 1
21-27354828-G-C c.1091-38C>G - IntronicSNV - 8/17 1
21-27354868-C-T c.1091-78G>A - IntronicSNV - 8/17 1
21-27354869-G-A c.1091-79C>T - IntronicSNV - 8/17 1
21-27355017-T-C c.1091-227A>G - IntronicSNV - 8/17 3
21-27355813-A-T c.1091-1023T>A - IntronicSNV - 8/17 1
21-27358111-T-A c.1091-3321A>T - IntronicSNV - 8/17 1
21-27359646-A-G c.1091-4856T>C - IntronicSNV - 8/17 1
21-27359663-C-T c.1091-4873G>A - IntronicSNV - 8/17 2
21-27361242-G-A c.1091-6452C>T - 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
21-27362771-G-A c.1090+6904C>T - IntronicSNV - 8/17 1
21-27368439-AT-A c.1090+1235del - IntronicDeletion - 8/17 1
21-27369355-T-G c.1090+320A>C - IntronicSNV - 8/17 1
21-27369409-T-C c.1090+266A>G - IntronicSNV - 8/17 1
21-27369481-C-T c.1090+194G>A - IntronicSNV - 8/17 5
21-27369663-A-C c.1090+12T>G - IntronicSNV - 8/17 1
21-27369670-C-T c.1090+5G>A - IntronicSNV - 8/17 1
21-27369671-G-A c.1090+4C>T - IntronicSNV - 8/17 1
21-27369674-AC-A c.1090+1del - IntronicDeletion - 8/17 1
21-27369675-G-A c.1090C>T p.L364F Missense 8/18 - 5
21-27369678-T-C c.1087A>G p.K363E Missense 8/18 - 1
21-27369681-C-CT c.1083_1084insA p.V362Sfs*2 Frameshift 8/18 - 1
21-27369681-C-T c.1084G>A p.V362I Missense 8/18 - 1
21-27369683-G-C c.1082C>G p.P361R Missense 8/18 - 1
21-27369684-G-A c.1081C>T p.P361S Missense 8/18 - 1
21-27369686-T-A c.1079A>T p.D360V Missense 8/18 - 1
21-27369689-C-G c.1076G>C p.R359P Missense 8/18 - 1
21-27369689-C-T c.1076G>A p.R359Q Missense 8/18 - 2
21-27369690-G-A c.1075C>T p.R359* UnclassifiedSNV 8/18 - 3
21-27369691-G-A c.1074C>T p.A358= Synonymous 8/18 - 1
21-27369691-GGC-TTA c.1072_1074delinsTAA p.A358* Nonsense 8/18 - 1
21-27369692-G-A c.1073C>T p.A358V Missense 8/18 - 3
21-27369693-C-T c.1072G>A p.A358T Missense 8/18 - 1
21-27369698-G-A c.1067C>T p.P356L Missense 8/18 - 1
21-27369699-G-A c.1066C>T p.P356S Missense 8/18 - 5
21-27369699-G-C c.1066C>G p.P356A Missense 8/18 - 1
21-27369701-T-A c.1064A>T p.E355V Missense 8/18 - 1
21-27369702-C-T c.1063G>A p.E355K Missense 8/18 - 2
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
21-27369709-A-C c.1056T>G p.T352= Synonymous 8/18 - 1
21-27369709-A-G c.1056T>C p.T352= Synonymous 8/18 - 1
21-27369709-A-T c.1056T>A p.T352= Synonymous 8/18 - 1
21-27369711-T-C c.1054A>G p.T352A Missense 8/18 - 1
21-27369712-C-T c.1053G>A p.K351= Synonymous 8/18 - 1
21-27369713-T-C c.1052A>G p.K351R Missense 8/18 - 2
21-27369717-G-A c.1048C>T p.L350F Missense 8/18 - 1
21-27369717-G-T c.1048C>A p.L350I Missense 8/18 - 1
21-27369718-T-C c.1047A>G p.L349= Synonymous 8/18 - 1
21-27369720-A-G c.1045T>C p.L349= Synonymous 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
21-27369730-C-A c.1035G>T p.M345I Missense 8/18 - 1
21-27369838-C-T c.1034-107G>A - IntronicSNV - 7/17 3
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
21-27372194-G-C c.1033+136C>G - IntronicSNV - 7/17 1
21-27372286-G-A c.1033+44C>T - IntronicSNV - 7/17 1
21-27372304-C-T c.1033+26G>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 - 3
21-27372332-G-A c.1031C>T p.A344V Missense 7/18 - 3
21-27372332-G-C c.1031C>G p.A344G Missense 7/18 - 2
21-27372333-C-A c.1030G>T p.A344S Missense 7/18 - 1
21-27372333-C-T c.1030G>A p.A344T Missense 7/18 - 4
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
21-27372339-C-T c.1024G>A p.G342S Missense 7/18 - 2
21-27372343-C-A c.1020G>T p.V340= Synonymous 7/18 - 1
21-27372343-C-G c.1020G>C p.V340= Synonymous 7/18 - 1
21-27372343-C-T c.1020G>A p.V340= Synonymous 7/18 - 1
21-27372345-C-A c.1018G>T p.V340L Missense 7/18 - 1
21-27372345-C-T c.1018G>A p.V340M Missense 7/18 - 6
21-27372347-G-A c.1016C>T p.A339V Missense 7/18 - 1
21-27372348-C-T c.1015G>A p.A339T Missense 7/18 - 3
21-27372351-T-C c.1012A>G p.M338V Missense 7/18 - 2
21-27372355-G-A c.1008C>T p.Y336= Synonymous 7/18 - 1
21-27372364-T-A c.999A>T p.T333= Synonymous 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 - 5
21-27372369-C-T c.994G>A p.D332N Missense 7/18 - 1
21-27372378-T-C c.985A>G p.N329D Missense 7/18 - 1
21-27372380-C-G c.983G>C p.R328P Missense 7/18 - 1
21-27372380-CG-GC c.982_983delinsGC p.R328A Missense 7/18 - 1
21-27372381-G-A c.982C>T p.R328W Missense 7/18 - 8
21-27372383-T-C c.980A>G p.N327S Missense 7/18 - 1
21-27372384-T-C c.979A>G p.N327D Missense 7/18 - 1
21-27372385-G-T c.978C>A p.G326= Synonymous 7/18 - 1
21-27372386-C-A c.977G>T p.G326V Missense 7/18 - 1
21-27372387-C-G c.976G>C p.G326R Missense 7/18 - 2
21-27372387-C-T c.976G>A p.G326S Missense 7/18 - 3
21-27372388-G-A c.975C>T p.G325= Synonymous 7/18 - 3
21-27372390-C-G c.973G>C p.G325R Missense 7/18 - 1
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
21-27372396-C-G c.967G>C p.G323R Missense 7/18 - 3
21-27372396-C-T c.967G>A p.G323R Missense 7/18 - 3
21-27372398-C-G c.965G>C p.G322A Missense 7/18 - 2
21-27372398-C-T c.965G>A p.G322D Missense 7/18 - 1
21-27372399-C-A c.964G>T p.G322C Missense 7/18 - 2
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
21-27372406-G-A c.957C>T p.F319= Synonymous 7/18 - 1
21-27372406-G-C c.957C>G p.F319L Missense 7/18 - 1
21-27372406-G-T c.957C>A p.F319L Missense 7/18 - 1
21-27372408-A-G c.955T>C p.F319L Missense 7/18 - 1
21-27372412-G-A c.951C>T p.A317= Synonymous 7/18 - 1
21-27372412-G-C c.951C>G p.A317= Synonymous 7/18 - 1
21-27372412-G-T c.951C>A p.A317= Synonymous 7/18 - 1
21-27372413-G-A c.950C>T p.A317V Missense 7/18 - 2
21-27372414-C-A c.949G>T p.A317S Missense 7/18 - 1
21-27372415-A-T c.948T>A p.C316* Nonsense 7/18 - 3
21-27372418-C-A c.945G>T p.K315N Missense 7/18 - 2
21-27372418-C-G c.945G>C p.K315N Missense 7/18 - 3
21-27372420-T-C c.943A>G p.K315E Missense 7/18 - 1
21-27372421-C-A c.942G>T p.G314= Synonymous 7/18 - 1
21-27372421-C-G c.942G>C p.G314= Synonymous 7/18 - 1
21-27372421-C-T c.942G>A p.G314= Synonymous 7/18 - 1
21-27372422-C-T c.941G>A p.G314E Missense 7/18 - 4
21-27372424-T-A c.939A>T p.E313D Missense 7/18 - 1
21-27372424-T-G c.939A>C p.E313D Missense 7/18 - 1
21-27372425-T-A c.938A>T p.E313V Missense 7/18 - 1
21-27372429-T-C c.934A>G p.T312A Missense 7/18 - 1
21-27372430-C-A c.933G>T p.V311= Synonymous 7/18 - 2
21-27372430-C-T c.933G>A p.V311= Synonymous 7/18 - 1
21-27372432-C-T c.931G>A p.V311M Missense 7/18 - 1
21-27372439-G-C c.924C>G p.Y308* Nonsense 7/18 - 4
21-27372439-G-T c.924C>A p.Y308* Nonsense 7/18 - 3
21-27372443-C-T c.920G>A p.W307* Nonsense 7/18 - 1
21-27372446-C-A c.917G>T p.R306L Missense 7/18 - 2
21-27372446-C-T c.917G>A p.R306H Missense 7/18 - 2
21-27372447-G-A c.916C>T p.R306C Missense 7/18 - 6
21-27372448-G-A c.915C>T p.S305= Synonymous 7/18 - 8
21-27372448-G-C c.915C>G p.S305= Synonymous 7/18 - 8
21-27372448-G-T c.915C>A p.S305= Synonymous 7/18 - 8
21-27372449-G-A c.914C>T p.S305F Missense 7/18 - 1
21-27372449-GA-AT c.913_914delinsAT p.S305I Missense 7/18 - 3
21-27372449-GA-TT c.913_914delinsAA p.S305N Missense 7/18 - 17
21-27372450-A-C c.913T>G p.S305A Missense 7/18 - 1
21-27372453-T-A c.910A>T p.I304F Missense 7/18 - 1
21-27372453-T-C c.910A>G p.I304V Missense 7/18 - 2
21-27372454-C-T c.909G>A p.M303I Missense 7/18 - 4
21-27372455-A-G c.908T>C p.M303T Missense 7/18 - 1
21-27372456-T-C c.907A>G p.M303V Missense 7/18 - 1
21-27372459-C-T c.904G>A p.A302T Missense 7/18 - 1
21-27372460-TCG-ACA c.901_903delinsTGT p.R301C Missense 7/18 - 3
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
21-27372461-C-T c.902G>A p.R301Q Missense 7/18 - 2
21-27372460-T-A c.903A>T p.R301= Synonymous 7/18 - 1
21-27372460-T-C c.903A>G p.R301= Synonymous 7/18 - 1
21-27372460-T-G c.903A>C p.R301= Synonymous 7/18 - 1
21-27372462-G-A c.901C>T p.R301* Nonsense 7/18 - 2
21-27372462-G-C c.901C>G p.R301G Missense 7/18 - 4
21-27372462-G-T c.901C>A p.R301= Synonymous 7/18 - 2
21-27372463-G-T c.900C>A p.C300* Nonsense 7/18 - 1
21-27372466-AC-A c.897del p.C300Afs*4 Frameshift 7/18 - 1
21-27372467-G-A c.896C>T p.P299L Missense 7/18 - 6
21-27372467-G-C c.896C>G p.P299R Missense 7/18 - 1
21-27372470-CC-GT c.892_893delinsAC p.G298T Missense 7/18 - 1
21-27372471-C-G c.892G>C p.G298R Missense 7/18 - 1
21-27372472-C-A c.891G>T p.T297= Synonymous 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 - 9
21-27372473-G-T c.890C>A p.T297K Missense 7/18 - 1
21-27372474-T-A c.889A>T p.T297S Missense 7/18 - 1
21-27372477-C-T c.886G>A p.E296K Missense 7/18 - 10
21-27372478-G-A c.885C>T p.A295= Synonymous 7/18 - 1
21-27372480-C-A c.883G>T p.A295S Missense 7/18 - 1
21-27372482-T-C c.881A>G p.Q294R Missense 7/18 - 1
21-27372483-G-A c.880C>T p.Q294* Nonsense 7/18 - 1
21-27372488-G-A c.875C>T p.S292F Missense 7/18 - 1
21-27372491-CA-GC c.871_872delinsGC p.C291A Missense 7/18 - 5
21-27372491-C-G c.872G>C p.C291S Missense 7/18 - 3
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 - 3
21-27372493-CAC-ATA c.868_870delinsTAT p.V290Y Missense 7/18 - 1
21-27372494-AC-CA c.868_869delinsTG p.V290W Missense 7/18 - 1
21-27372497-T-A c.866A>T p.E289V Missense 7/18 - 1
21-27372497-T-C c.866A>G p.E289G Missense 7/18 - 2
21-27372825-C-T c.866-328G>A - IntronicSNV - 6/17 1
21-27374604-C-A c.866-2107G>T - IntronicSNV - 6/17 1
21-27382362-A-AG c.866-9866_866-9865insC - IntronicInsertion - 6/17 3
21-27382362-A-G c.866-9865T>C - IntronicSNV - 6/17 2
21-27382417-C-G c.866-9920G>C - IntronicSNV - 6/17 4
21-27384096-T-C c.865+10060A>G - IntronicSNV - 6/17 1
21-27387570-C-T c.865+6586G>A - IntronicSNV - 6/17 1
21-27387763-T-C c.865+6393A>G - IntronicSNV - 6/17 1
21-27387984-A-C c.865+6172T>G - IntronicSNV - 6/17 1
21-27387984-A-G c.865+6172T>C - IntronicSNV - 6/17 1
21-27389248-GGGGCGGGGGGCGGGGGGC-G c.865+4890_865+4907del - IntronicDeletion - 6/17 1
21-27389252-C-A c.865+4904G>T - IntronicSNV - 6/17 1
21-27389252-C-G c.865+4904G>C - IntronicSNV - 6/17 1
21-27389252-C-T c.865+4904G>A - IntronicSNV - 6/17 1
21-27389256-G-T c.865+4900C>A - IntronicSNV - 6/17 1
21-27390503-GT-G c.865+3652del - IntronicDeletion - 6/17 1
21-27391459-T-C c.865+2697A>G - IntronicSNV - 6/17 1
21-27392818-T-C c.865+1338A>G - IntronicSNV - 6/17 1
21-27394030-C-A c.865+126G>T - IntronicSNV - 6/17 1
21-27394030-C-G c.865+126G>C - IntronicSNV - 6/17 1
21-27394030-C-T c.865+126G>A - IntronicSNV - 6/17 1
21-27394106-C-A c.865+50G>T - IntronicSNV - 6/17 1
21-27394106-C-T c.865+50G>A - IntronicSNV - 6/17 1
21-27394155-C-A c.865+1G>T - IntronicSNV - 6/17 1
21-27394156-C-A c.865G>T p.E289* Nonsense 6/18 - 1
21-27394156-C-G c.865G>C p.E289Q Missense 6/18 - 1
21-27394157-TCG-ATA c.862_864delinsTAT p.R288Y Missense 6/18 - 1
21-27394158-C-A c.863G>T p.R288L Missense 6/18 - 1
21-27394158-C-G c.863G>C p.R288P Missense 6/18 - 1
21-27394158-CG-GC c.862_863delinsGC p.R288A Missense 6/18 - 1
21-27394158-C-T c.863G>A p.R288Q Missense 6/18 - 2
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
21-27394160-A-G c.861T>C p.V287= Synonymous 6/18 - 1
21-27394161-A-C c.860T>G p.V287G Missense 6/18 - 4
21-27394162-C-T c.859G>A p.V287I Missense 6/18 - 2
21-27394168-C-G c.853G>C p.E285Q Missense 6/18 - 3
21-27394170-T-C c.851A>G p.E284G Missense 6/18 - 1
21-27394171-C-T c.850G>A p.E284K Missense 6/18 - 3
21-27394173-A-G c.848T>C p.V283A Missense 6/18 - 1
21-27394174-C-A c.847G>T p.V283L Missense 6/18 - 1
21-27394177-A-C c.844T>G p.S282A Missense 6/18 - 1
21-27394177-A-G c.844T>C p.S282P Missense 6/18 - 1
21-27394178-C-A c.843G>T p.E281D Missense 6/18 - 1
21-27394179-T-G c.842A>C p.E281A Missense 6/18 - 1
21-27394180-C-G c.841G>C p.E281Q 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 - 2
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 - 2
21-27394183-T-G c.838A>C p.T280P 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
21-27394186-T-C c.835A>G p.T279A Missense 6/18 - 1
21-27394189-T-A c.832A>T p.T278S Missense 6/18 - 1
21-27394191-G-T c.830C>A p.T277N Missense 6/18 - 2
21-27394192-T-C c.829A>G p.T277A Missense 6/18 - 1
21-27394193-G-A c.828C>T p.T276= Synonymous 6/18 - 2
21-27394194-G-C c.827C>G p.T276S Missense 6/18 - 3
21-27394195-T-A c.826A>T p.T276S Missense 6/18 - 4
21-27394195-T-G c.826A>C p.T276P Missense 6/18 - 1
21-27394181-TGTGGTG-T c.834_839del p.T279_T280del InFrameDeletion 6/18 - 1
21-27394199-GG-CA c.821_822delinsTG p.T274M Missense 6/18 - 1
21-27394181-TGTG-T c.837_839del p.T280del InFrameDeletion 6/18 - 10
21-27394201-T-C c.820A>G p.T274A Missense 6/18 - 2
21-27394204-C-T c.817G>A p.A273T Missense 6/18 - 2
21-27394204-GCAA-G c.815_817del p.I272_A273delinsT MultiAAMissense 6/18 - 1
21-27394205-A-G c.816T>C p.I272= Synonymous 6/18 - 1
21-27394205-A-T c.816T>A p.I272= Synonymous 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
21-27394213-T-G c.808A>C p.T270P Missense 6/18 - 1
21-27394214-G-A c.807C>T p.T269= Synonymous 6/18 - 1
21-27394215-G-A c.806C>T p.T269I Missense 6/18 - 1
21-27394217-TCT-ATG c.802_804delinsCAT p.R268H Missense 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 - 4
21-27394223-T-A c.798A>T p.T266= Synonymous 6/18 - 2
21-27394223-T-C c.798A>G p.T266= Synonymous 6/18 - 2
21-27394223-T-G c.798A>C p.T266= Synonymous 6/18 - 2
21-27394223-TG-CA c.797_798inv p.T266M Missense 6/18 - 1
21-27394224-G-C c.797C>G p.T266R Missense 6/18 - 1
21-27394227-G-A c.794C>T p.A265V Missense 6/18 - 1
21-27394228-C-T c.793G>A p.A265T Missense 6/18 - 1
21-27394234-C-G c.787G>C p.E263Q Missense 6/18 - 1
21-27394234-C-T c.787G>A p.E263K Missense 6/18 - 1
21-27394235-G-A c.786C>T p.Y262= Synonymous 6/18 - 1
21-27394239-G-A c.782C>T p.P261L Missense 6/18 - 1
21-27394241-T-A c.780A>T p.E260D Missense 6/18 - 1
21-27394241-T-C c.780A>G p.E260= Synonymous 6/18 - 1
21-27394241-T-G c.780A>C p.E260D Missense 6/18 - 1
21-27394244-C-G c.777G>C p.E259D Missense 6/18 - 1
21-27394248-G-A c.773C>T p.A258V Missense 6/18 - 2
21-27394249-C-T c.772G>A p.A258T Missense 6/18 - 1
21-27394251-TC-GT c.769_770delinsAC p.E257T Missense 6/18 - 1
21-27394252-C-T c.769G>A p.E257K Missense 6/18 - 1
21-27394253-T-A c.768A>T p.E256D Missense 6/18 - 1
21-27394253-T-G c.768A>C p.E256D Missense 6/18 - 1
21-27394254-TTC-T c.766_767del p.E256Rfs*3 Frameshift 6/18 - 1
21-27394255-C-T c.766G>A p.E256K Missense 6/18 - 3
21-27394256-C-A c.765G>T p.E255D Missense 6/18 - 2
21-27394256-C-G c.765G>C p.E255D Missense 6/18 - 2
21-27394260-A-G c.761T>C p.V254A Missense 6/18 - 1
21-27394264-C-T c.757G>A p.E253K Missense 6/18 - 1
21-27394266-T-C c.755A>G p.D252G Missense 6/18 - 1
21-27394267-C-A c.754G>T p.D252Y Missense 6/18 - 1
21-27394267-C-T c.754G>A p.D252N Missense 6/18 - 1
21-27394269-C-A c.752G>T p.G251V Missense 6/18 - 1
21-27394269-C-T c.752G>A p.G251D Missense 6/18 - 3
21-27394270-C-T c.751G>A p.G251S Missense 6/18 - 2
21-27394273-C-G c.748G>C p.D250H Missense 6/18 - 1
21-27394275-T-C c.746A>G p.E249G Missense 6/18 - 1
21-27394276-C-T c.745G>A p.E249K Missense 6/18 - 2
21-27394277-A-C c.744T>G p.D248E Missense 6/18 - 1
21-27394277-A-T c.744T>A p.D248E Missense 6/18 - 1
21-27394278-T-C c.743A>G p.D248G Missense 6/18 - 3
21-27394279-C-T c.742G>A p.D248N Missense 6/18 - 8
21-27394280-G-A c.741C>T p.D247= Synonymous 6/18 - 1
21-27394282-C-CCTAATGAGT c.738_739insACTCATTAG p.E246_D247insTH* Frameshift 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 - 11
21-27394285-C-CGGT c.735_736insACC p.D245_E246insT InFrameInsertion 6/18 - 1
21-27394287-GT-G c.734del p.D245Afs*10 Frameshift 6/18 - 1
21-27394287-T-A c.734A>T p.D245V Missense 6/18 - 2
21-27394287-T-C c.734A>G p.D245G Missense 6/18 - 1
21-27394288-C-T c.733G>A p.D245N Missense 6/18 - 1
21-27394286-GTCATCA-G c.729_734del p.D244_D245del InFrameDeletion 6/18 - 1
21-27394289-A-C c.732T>G p.D244E Missense 6/18 - 1
21-27394289-A-T c.732T>A p.D244E 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 - 3
21-27394286-GTCA-G c.732_734del p.D245del InFrameDeletion 6/18 - 5
21-27394294-C-G c.727G>C p.D243H Missense 6/18 - 1
21-27394294-C-T c.727G>A p.D243N Missense 6/18 - 11
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
21-27394296-G-A c.725C>T p.A242V Missense 6/18 - 1
21-27394301-T-C c.720A>G p.E240= Synonymous 6/18 - 1
21-27394303-C-T c.718G>A p.E240K Missense 6/18 - 3
21-27394296-GCTT-G c.722_724del p.E241del InFrameDeletion 6/18 - 1
21-27394309-C-G c.712G>C p.E238Q Missense 6/18 - 1
21-27394310-C-G c.711G>C p.V237= Synonymous 6/18 - 1
21-27394311-A-C c.710T>G p.V237G Missense 6/18 - 2
21-27394311-A-G c.710T>C p.V237A Missense 6/18 - 1
21-27394315-C-T c.706G>A p.E236K Missense 6/18 - 1
21-27394317-G-A c.704C>T p.A235V Missense 6/18 - 5
21-27394319-C-A c.702G>T p.V234= Synonymous 6/18 - 2
21-27394319-C-G c.702G>C p.V234= Synonymous 6/18 - 1
21-27394319-C-T c.702G>A p.V234= Synonymous 6/18 - 1
21-27394320-A-C c.701T>G p.V234G Missense 6/18 - 1
21-27394321-C-T c.700G>A p.V234M Missense 6/18 - 2
21-27394324-C-G c.697G>C p.E233Q Missense 6/18 - 2
21-27394325-T-A c.696A>T p.E232D Missense 6/18 - 1
21-27394327-C-T c.694G>A p.E232K Missense 6/18 - 2
21-27394330-C-T c.691G>A p.E231K Missense 6/18 - 2
21-27394333-C-G c.688G>C p.E230Q Missense 6/18 - 1
21-27394334-TGC-ACA c.685_687delinsTGT p.A229C Missense 6/18 - 1
21-27394335-G-A c.686C>T p.A229V Missense 6/18 - 1
21-27394336-C-G c.685G>C p.A229P Missense 6/18 - 1
21-27394336-C-T c.685G>A p.A229T Missense 6/18 - 1
21-27394339-C-T c.682G>A p.V228I Missense 6/18 - 2
21-27394341-T-G c.680A>C p.E227A Missense 6/18 - 1
21-27394342-C-T c.679G>A p.E227K Missense 6/18 - 3
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 - 5
21-27394349-T-G c.672A>C p.K224N Missense 6/18 - 1
21-27394349-T-TGTG c.671_672insCAC p.K224delinsNT MultiAAMissense 6/18 - 1
21-27394350-T-C c.671A>G p.K224R Missense 6/18 - 1
21-27394347-ACTTTGT-A c.668_673del p.D223_K224del InFrameDeletion 6/18 - 1
21-27394349-TTTG-T c.669_671del p.D223_K224delinsE MultiAAMissense 6/18 - 6
21-27394353-T-C c.668A>G p.D223G Missense 6/18 - 4
21-27394354-C-A c.667G>T p.D223Y Missense 6/18 - 1
21-27394358-A-G c.663T>C p.S221= Synonymous 6/18 - 1
21-27394367-G-A c.663-9C>T - IntronicSNV - 5/17 1
21-27394367-G-T c.663-9C>A - IntronicSNV - 5/17 1
21-27394427-G-A c.663-69C>T - IntronicSNV - 5/17 1
21-27394468-A-G c.663-110T>C - IntronicSNV - 5/17 1
21-27397380-T-C c.663-3022A>G - IntronicSNV - 5/17 1
21-27397607-A-G c.663-3249T>C - IntronicSNV - 5/17 2
21-27399442-T-C c.663-5084A>G - IntronicSNV - 5/17 1
21-27402273-A-G c.663-7915T>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
21-27407770-C-G c.663-13412G>C - IntronicSNV - 5/17 1
21-27407770-C-T c.663-13412G>A - IntronicSNV - 5/17 1
21-27408020-G-A c.663-13662C>T - IntronicSNV - 5/17 1
21-27410482-TA-T c.662+12833del - IntronicDeletion - 5/17 1
21-27411256-G-C c.662+12060C>G - 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
21-27414856-A-G c.662+8460T>C - IntronicSNV - 5/17 1
21-27415337-C-T c.662+7979G>A - IntronicSNV - 5/17 1
21-27416114-C-CT c.662+7201dup - IntronicInsertion - 5/17 1
21-27417594-TA-T c.662+5721del - IntronicDeletion - 5/17 1
21-27419070-G-A c.662+4246C>T - IntronicSNV - 5/17 1
21-27423131-C-G c.662+185G>C - IntronicSNV - 5/17 1
21-27423131-C-T c.662+185G>A - IntronicSNV - 5/17 1
21-27423246-T-C c.662+70A>G - IntronicSNV - 5/17 1
21-27423314-A-C c.662+2T>G - IntronicSNV - 5/17 1
21-27423316-CT-GC c.661_662delinsGC p.S221A Missense 5/18 - 1
21-27423316-CT-TA c.661_662delinsTA p.S221Y Missense 5/18 - 1
21-27423319-C-T c.659G>A p.G220E Missense 5/18 - 1
21-27423320-C-G c.658G>C p.G220R Missense 5/18 - 1
21-27423321-A-C c.657T>G p.D219E Missense 5/18 - 1
21-27423321-A-G c.657T>C p.D219= Synonymous 5/18 - 1
21-27423322-T-G c.656A>C p.D219A Missense 5/18 - 1
21-27423323-C-T c.655G>A p.D219N Missense 5/18 - 2
21-27423324-TGC-ACA c.652_654delinsTGT p.A218C Missense 5/18 - 1
21-27423329-A-G c.649T>C p.Y217H Missense 5/18 - 1
21-27423330-G-T c.648C>A p.D216E Missense 5/18 - 1
21-27423333-TGT-ATA c.643_645delinsTAT p.T215Y Missense 5/18 - 2
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-A c.640G>T p.D214Y Missense 5/18 - 1
21-27423338-C-T c.640G>A p.D214N Missense 5/18 - 2
21-27423340-G-C c.638C>G p.A213G Missense 5/18 - 1
21-27423344-C-G c.634G>C p.G212R Missense 5/18 - 1
21-27423344-C-T c.634G>A p.G212R Missense 5/18 - 2
21-27423346-C-G c.632G>C p.G211A Missense 5/18 - 2
21-27423347-C-A c.631G>T p.G211C Missense 5/18 - 1
21-27423348-C-A c.630G>T p.W210C Missense 5/18 - 1
21-27423348-C-G c.630G>C p.W210C Missense 5/18 - 1
21-27423349-C-A c.629G>T p.W210L Missense 5/18 - 1
21-27423349-CA-GC c.628_629delinsGC p.W210A Missense 5/18 - 1
21-27423350-A-T c.628T>A p.W210R Missense 5/18 - 1
21-27423351-C-A c.627G>T p.W209C Missense 5/18 - 1
21-27423352-C-T c.626G>A p.W209* Nonsense 5/18 - 1
21-27423354-G-A c.624C>T p.V208= Synonymous 5/18 - 1
21-27423355-A-C c.623T>G p.V208G Missense 5/18 - 1
21-27423355-A-G c.623T>C p.V208A Missense 5/18 - 2
21-27423358-T-C c.620A>G p.D207G Missense 5/18 - 1
21-27423358-T-G c.620A>C p.D207A Missense 5/18 - 1
21-27423359-C-A c.619G>T p.D207Y Missense 5/18 - 2
21-27423359-C-T c.619G>A p.D207N Missense 5/18 - 1
21-27423360-C-A c.618G>T p.S206= Synonymous 5/18 - 1
21-27423360-C-G c.618G>C p.S206= Synonymous 5/18 - 1
21-27423360-C-T c.618G>A p.S206= Synonymous 5/18 - 1
21-27423361-G-A c.617C>T p.S206L Missense 5/18 - 3
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
21-27423373-T-C c.605A>G p.E202G Missense 5/18 - 1
21-27423374-C-T c.604G>A p.E202K Missense 5/18 - 2
21-27423375-C-A c.603G>T p.A201= Synonymous 5/18 - 1
21-27423375-C-G c.603G>C p.A201= Synonymous 5/18 - 1
21-27423375-C-T c.603G>A p.A201= Synonymous 5/18 - 2
21-27423376-G-A c.602C>T p.A201V Missense 5/18 - 9
21-27423378-A-G c.600T>C p.D200= Synonymous 5/18 - 1
21-27423379-T-C c.599A>G p.D200G Missense 5/18 - 1
21-27423382-G-A c.596C>T p.A199V Missense 5/18 - 4
21-27423385-G-A c.593C>T p.S198F Missense 5/18 - 1
21-27423386-A-G c.592T>C p.S198P Missense 5/18 - 8
21-27423386-A-T c.592T>A p.S198T Missense 5/18 - 1
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
21-27423391-A-G c.587T>C p.V196A Missense 5/18 - 3
21-27423392-C-T c.586G>A p.V196M Missense 5/18 - 1
21-27423397-T-C c.581A>G p.D194G Missense 5/18 - 5
21-27423397-T-G c.581A>C p.D194A Missense 5/18 - 2
21-27423400-C-T c.578G>A p.S193N Missense 5/18 - 2
21-27423400-CT-GC c.577_578delinsGC p.S193A Missense 5/18 - 1
21-27423400-CT-GG c.577_578delinsCC p.S193P Missense 5/18 - 2
21-27423404-C-G c.574G>C p.E192Q Missense 5/18 - 1
21-27423404-C-T c.574G>A p.E192K Missense 5/18 - 2
21-27423405-T-G c.573A>C p.E191D Missense 5/18 - 2
21-27423406-T-G c.572A>C p.E191A Missense 5/18 - 1
21-27423407-C-G c.571G>C p.E191Q Missense 5/18 - 1
21-27423407-TCA-T c.570_571del p.E191Rfs*3 Frameshift 5/18 - 1
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
21-27423415-G-T c.563C>A p.P188Q Missense 5/18 - 1
21-27423418-C-G c.560G>C p.C187S Missense 5/18 - 1
21-27423419-A-T c.559T>A p.C187S 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 - 2
21-27423421-C-G c.557G>C p.C186S Missense 5/18 - 1
21-27423422-A-T c.556T>A p.C186S Missense 5/18 - 1
21-27423425-C-T c.553G>A p.V185M 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
21-27423431-C-G c.547G>C p.E183Q Missense 5/18 - 1
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
21-27423434-C-T c.544G>A p.V182I Missense 5/18 - 1
21-27423439-CG-GC c.538_539delinsGC p.R180A Missense 5/18 - 1
21-27423439-C-T c.539G>A p.R180Q Missense 5/18 - 3
21-27423440-G-A c.538C>T p.R180* Nonsense 5/18 - 4
21-27423441-G-T c.537C>A p.F179L Missense 5/18 - 1
21-27423442-A-G c.536T>C p.F179S Missense 5/18 - 2
21-27423443-A-T c.535T>A p.F179I Missense 5/18 - 2
21-27423444-C-T c.534G>A p.K178= Synonymous 5/18 - 1
21-27423445-T-C c.533A>G p.K178R Missense 5/18 - 1
21-27423445-TT-GC c.532_533delinsGC p.K178A Missense 5/18 - 1
21-27423447-G-C c.531C>G p.D177E Missense 5/18 - 1
21-27423448-T-A c.530A>T p.D177V Missense 5/18 - 1
21-27423448-TC-AG c.529_530delinsCT p.D177L Missense 5/18 - 1
21-27423449-C-T c.529G>A p.D177N Missense 5/18 - 7
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
21-27423455-C-A c.523G>T p.G175* Nonsense 5/18 - 1
21-27423455-C-G c.523G>C p.G175R Missense 5/18 - 1
21-27423455-C-T c.523G>A p.G175R Missense 5/18 - 1
21-27423456-G-A c.522C>T p.C174= Synonymous 5/18 - 3
21-27423457-C-A c.521G>T p.C174F Missense 5/18 - 1
21-27423458-A-C c.520T>G p.C174G Missense 5/18 - 1
21-27423460-G-A c.518C>T p.P173L Missense 5/18 - 3
21-27423460-G-T c.518C>A p.P173H Missense 5/18 - 3
21-27423461-G-A c.517C>T p.P173S Missense 5/18 - 1
21-27423463-A-T c.515T>A p.L172Q Missense 5/18 - 1
21-27423464-G-A c.514C>T p.L172= Synonymous 5/18 - 1
21-27423466-AA-GG c.511_512delinsCC p.L171P Missense 5/18 - 2
21-27423468-CAT-GTC c.508_510delinsGAC p.M170D Missense 5/18 - 1
21-27423472-C-G c.506G>C p.G169A Missense 5/18 - 1
21-27423473-C-T c.505G>A p.G169S Missense 5/18 - 2
21-27423475-T-C c.503A>G p.Y168C Missense 5/18 - 2
21-27423478-T-C c.500A>G p.D167G Missense 5/18 - 2
21-27423479-C-T c.499G>A p.D167N Missense 5/18 - 1
21-27423480-A-G c.498T>C p.H166= Synonymous 5/18 - 1
21-27423481-T-C c.497A>G p.H166R Missense 5/18 - 4
21-27423482-G-A c.496C>T p.H166Y Missense 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
21-27423486-AGT-A c.491_492del p.N164Ifs*3 Frameshift 5/18 - 1
21-27423487-T-A c.491A>T p.N164I Missense 5/18 - 1
21-27423488-T-C c.490A>G p.N164D Missense 5/18 - 1
21-27423489-G-A c.489C>T p.T163= Synonymous 5/18 - 1
21-27423489-G-C c.489C>G p.T163= Synonymous 5/18 - 1
21-27423489-GG-CA c.488_489delinsTG p.T163M Missense 5/18 - 1
21-27423489-G-T c.489C>A p.T163= Synonymous 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 - 2
21-27423495-C-G c.483G>C p.K161N Missense 5/18 - 2
21-27423499-T-G c.479A>C p.E160A Missense 5/18 - 1
21-27423500-C-T c.478G>A p.E160K Missense 5/18 - 2
21-27423503-T-C c.475A>G p.S159G Missense 5/18 - 2
21-27423504-G-A c.474C>T p.C158= Synonymous 5/18 - 1
21-27423505-C-T c.473G>A p.C158Y Missense 5/18 - 4
21-27423505-C-G c.473G>C p.C158S Missense 5/18 - 1
21-27423506-A-G c.472T>C p.C158R Missense 5/18 - 2
21-27423506-A-T c.472T>A p.C158S Missense 5/18 - 1
21-27423508-G-A c.470C>T p.T157I Missense 5/18 - 1
21-27423508-G-T c.470C>A p.T157K Missense 5/18 - 1
21-27423547-A-T c.469-38T>A - IntronicSNV - 4/17 3
21-27423561-G-T c.469-52C>A - IntronicSNV - 4/17 6
21-27423594-A-T c.469-85T>A - IntronicSNV - 4/17 1
21-27423708-T-TAA c.469-200_469-199insTT - IntronicInsertion - 4/17 2
21-27423709-G-A c.469-200C>T - IntronicSNV - 4/17 1
21-27423710-T-A c.469-201A>T - IntronicSNV - 4/17 1
21-27424038-T-C c.469-529A>G - IntronicSNV - 4/17 1
21-27425323-C-T c.468+229G>A - IntronicSNV - 4/17 2
21-27425368-C-T c.468+184G>A - IntronicSNV - 4/17 1
21-27425421-T-C c.468+131A>G - IntronicSNV - 4/17 1
21-27425501-G-A c.468+51C>T - IntronicSNV - 4/17 1
21-27425549-T-C c.468+3A>G - IntronicSNV - 4/17 1
21-27425550-A-G c.468+2T>C - IntronicSNV - 4/17 1
21-27425553-CT-C c.467del p.E156Gfs*27 Frameshift 4/18 - 1
21-27425554-C-A c.466G>T p.E156* Nonsense 4/18 - 1
21-27425554-C-T c.466G>A p.E156K Missense 4/18 - 2
21-27425557-T-A c.463A>T p.K155* Nonsense 4/18 - 1
21-27425557-T-G c.463A>C p.K155Q Missense 4/18 - 1
21-27425558-G-A c.462C>T p.A154= Synonymous 4/18 - 1
21-27425558-G-C c.462C>G p.A154= Synonymous 4/18 - 1
21-27425558-G-T c.462C>A p.A154= Synonymous 4/18 - 1
21-27425559-G-A c.461C>T p.A154V Missense 4/18 - 1
21-27425559-G-GT c.460_461insA p.A154Dfs*7 Frameshift 4/18 - 1
21-27425560-C-T c.460G>A p.A154T Missense 4/18 - 2
21-27425561-G-A c.459C>T p.V153= Synonymous 4/18 - 1
21-27425561-G-C c.459C>G p.V153= Synonymous 4/18 - 1
21-27425561-G-T c.459C>A p.V153= Synonymous 4/18 - 1
21-27425563-C-A c.457G>T p.V153F Missense 4/18 - 1
21-27425563-C-G c.457G>C p.V153L Missense 4/18 - 1
21-27425563-C-T c.457G>A p.V153I Missense 4/18 - 5
21-27425564-G-A c.456C>T p.T152= Synonymous 4/18 - 3
21-27425564-G-C c.456C>G p.T152= Synonymous 4/18 - 2
21-27425564-GG-CA c.455_456delinsTG p.T152M Missense 4/18 - 1
21-27425564-GG-CT c.455_456delinsAG p.T152K Missense 4/18 - 1
21-27425564-G-T c.456C>A p.T152= Synonymous 4/18 - 2
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-A c.451C>T p.H151Y 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
21-27425570-C-T c.450G>A p.W150* Nonsense 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
21-27425571-C-T c.449G>A p.W150* Nonsense 4/18 - 2
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 - 2
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 - 5
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
21-27425578-G-A c.442C>T p.L148F Missense 4/18 - 1
21-27425578-G-T c.442C>A p.L148I Missense 4/18 - 1
21-27425579-A-C c.441T>G p.H147Q Missense 4/18 - 1
21-27425579-A-T c.441T>A p.H147Q Missense 4/18 - 1
21-27425580-TG-GC c.439_440delinsGC p.H147A Missense 4/18 - 1
21-27425581-G-A c.439C>T p.H147Y Missense 4/18 - 2
21-27425581-G-C c.439C>G p.H147D Missense 4/18 - 1
21-27425581-G-T c.439C>A p.H147N Missense 4/18 - 2
21-27425583-G-A c.437C>T p.T146I Missense 4/18 - 2
21-27425583-G-T c.437C>A p.T146N Missense 4/18 - 1
21-27425583-GT-CA c.436_437delinsTG p.T146C Missense 4/18 - 3
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 - 3
21-27425587-C-T c.433G>A p.E145K Missense 4/18 - 3
21-27425588-G-A c.432C>T p.C144= Synonymous 4/18 - 5
21-27425591-A-C c.429T>G p.V143= Synonymous 4/18 - 1
21-27425591-A-G c.429T>C p.V143= Synonymous 4/18 - 1
21-27425591-AAC-A c.427_428del p.V143Lfs*17 Frameshift 4/18 - 1
21-27425593-C-T c.427G>A p.V143I Missense 4/18 - 1
21-27425594-A-T c.426T>A p.D142E Missense 4/18 - 1
21-27425595-T-C c.425A>G p.D142G Missense 4/18 - 2
21-27425595-T-G c.425A>C p.D142A 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-C-G c.419G>C p.R140T Missense 4/18 - 1
21-27425601-CT-GC c.418_419delinsGC p.R140A Missense 4/18 - 2
21-27425601-CT-TG c.418_419delinsCA p.R140Q Missense 4/18 - 1
21-27425603-C-A c.417G>T p.E139D Missense 4/18 - 1
21-27425603-C-T c.417G>A p.E139= Synonymous 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 - 3
21-27425607-T-C c.413A>G p.Q138R Missense 4/18 - 2
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
21-27425611-G-A c.409C>T p.H137Y Missense 4/18 - 1
21-27425611-G-T c.409C>A p.H137N 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
21-27425613-A-G c.407T>C p.L136S Missense 4/18 - 1
21-27425618-T-A c.402A>T p.K134N Missense 4/18 - 1
21-27425618-T-G c.402A>C p.K134N Missense 4/18 - 1
21-27425619-T-C c.401A>G p.K134R Missense 4/18 - 1
21-27425619-TT-GC c.400_401delinsGC p.K134A Missense 4/18 - 1
21-27425621-G-T c.399C>A p.C133* Nonsense 4/18 - 1
21-27425622-C-G c.398G>C p.C133S Missense 4/18 - 1
21-27425623-A-T c.397T>A p.C133S Missense 4/18 - 1
21-27425625-T-G c.395A>C p.K132T Missense 4/18 - 2
21-27425625-TT-GC c.394_395delinsGC p.K132A Missense 4/18 - 1
21-27425626-T-TAGATAAAGGAGCCTAATTCTA c.393_394insTAGAATTAGGCTCCTTTATCT p.D131_K132ins* Nonsense 4/18 - 1
21-27425628-T-G c.392A>C p.D131A Missense 4/18 - 2
21-27425628-T-TTAGCCTAAGA c.391_392insTCTTAGGCTA p.D131Vfs*4 Frameshift 4/18 - 1
21-27425629-C-G c.391G>C p.D131H Missense 4/18 - 2
21-27425629-C-T c.391G>A p.D131N Missense 4/18 - 1
21-27425630-A-C c.390T>G p.P130= Synonymous 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 - 4
21-27425632-G-A c.388C>T p.P130S Missense 4/18 - 3
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
21-27425634-A-G c.386T>C p.V129A Missense 4/18 - 1
21-27425636-G-A c.384C>T p.L128= Synonymous 4/18 - 2
21-27425636-G-C c.384C>G p.L128= Synonymous 4/18 - 1
21-27425636-G-T c.384C>A p.L128= Synonymous 4/18 - 1
21-27425639-GAA-G c.380_381del p.L127Pfs*4 Frameshift 4/18 - 1
21-27425640-AG-CT c.379_380inv p.L127S Missense 4/18 - 1
21-27425643-G-A c.377C>T p.A126V Missense 4/18 - 2
21-27425644-C-T c.376G>A p.A126T Missense 4/18 - 1
21-27425647-C-A c.373G>T p.D125Y Missense 4/18 - 1
21-27425650-T-C c.370A>G p.S124G Missense 4/18 - 1
21-27425657-C-A c.363G>T p.E121D Missense 4/18 - 3
21-27425657-C-G c.363G>C p.E121D Missense 4/18 - 2
21-27425658-T-G c.362A>C p.E121A Missense 4/18 - 1
21-27425660-A-ATCTC c.359_360insGAGA p.E121Rfs*2 Frameshift 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
21-27425661-C-G c.359G>C p.G120A Missense 4/18 - 2
21-27425662-C-G c.358G>C p.G120R Missense 4/18 - 2
21-27425664-A-G c.356T>C p.V119A Missense 4/18 - 1
21-27425664-A-T c.356T>A p.V119D Missense 4/18 - 1
21-27425685-T-C c.356-21A>G - IntronicSNV - 3/17 1
21-27425685-T-G c.356-21A>C - IntronicSNV - 3/17 1
21-27425742-T-C c.356-78A>G - IntronicSNV - 3/17 1
21-27425859-G-C c.356-195C>G - IntronicSNV - 3/17 1
21-27427248-G-T c.356-1584C>A - IntronicSNV - 3/17 2
21-27427592-C-T c.356-1928G>A - IntronicSNV - 3/17 1
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
21-27433700-A-G c.356-8036T>C - IntronicSNV - 3/17 1
21-27433700-A-T c.356-8036T>A - IntronicSNV - 3/17 1
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 4
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
21-27451437-A-T c.355+10822T>A - IntronicSNV - 3/17 1
21-27454995-T-C c.355+7264A>G - IntronicSNV - 3/17 2
21-27456839-G-GC c.355+5419dup - IntronicInsertion - 3/17 1
21-27456856-A-AG c.355+5402dup - IntronicInsertion - 3/17 1
21-27457518-C-A c.355+4741G>T - IntronicSNV - 3/17 1
21-27458409-A-G c.355+3850T>C - IntronicSNV - 3/17 3
21-27459101-T-A c.355+3158A>T - IntronicSNV - 3/17 1
21-27459101-T-C c.355+3158A>G - IntronicSNV - 3/17 1
21-27459674-C-G c.355+2585G>C - IntronicSNV - 3/17 2
21-27459674-C-T c.355+2585G>A - IntronicSNV - 3/17 2
21-27462096-C-T c.355+163G>A - IntronicSNV - 3/17 1
21-27462209-C-T c.355+50G>A - IntronicSNV - 3/17 1
21-27462212-A-G c.355+47T>C - IntronicSNV - 3/17 1
21-27462261-A-G c.353T>C p.L118S Missense 3/18 - 1
21-27462263-G-T c.351C>A p.C117* Nonsense 3/18 - 1
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
21-27462267-C-T c.347G>A p.R116H Missense 3/18 - 1
21-27462267-GC-G c.347del p.R116Pfs*3 Frameshift 3/18 - 1
21-27462268-G-A c.346C>T p.R116C Missense 3/18 - 3
21-27462270-T-C c.344A>G p.Y115C Missense 3/18 - 5
21-27462271-A-G c.343T>C p.Y115H Missense 3/18 - 2
21-27462274-G-A c.340C>T p.P114S Missense 3/18 - 5
21-27462274-G-C c.340C>G p.P114A Missense 3/18 - 1
21-27462276-A-G c.338T>C p.I113T Missense 3/18 - 3
21-27462278-CAC-GAT c.334_336delinsATC p.V112I Missense 3/18 - 1
21-27462279-A-G c.335T>C p.V112A Missense 3/18 - 1
21-27462280-C-T c.334G>A p.V112M Missense 3/18 - 2
21-27462282-A-C c.332T>G p.F111C Missense 3/18 - 2
21-27462283-A-C c.331T>G p.F111V Missense 3/18 - 1
21-27462283-A-G c.331T>C p.F111L 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 - 4
21-27462286-G-T c.328C>A p.H110N Missense 3/18 - 1
21-27462289-G-A c.325C>T p.P109S Missense 3/18 - 1
21-27462288-GGAT-G c.323_325del p.H108del InFrameDeletion 3/18 - 1
21-27462296-C-A c.318G>T p.K106N Missense 3/18 - 2
21-27462296-C-G c.318G>C p.K106N Missense 3/18 - 1
21-27462299-G-A c.315C>T p.C105= Synonymous 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-G c.313T>C p.C105R Missense 3/18 - 1
21-27462301-A-T c.313T>A p.C105S Missense 3/18 - 1
21-27462302-C-A c.312G>T p.Q104H Missense 3/18 - 1
21-27462306-T-C c.308A>G p.K103R Missense 3/18 - 1
21-27462307-T-G c.307A>C p.K103Q Missense 3/18 - 1
21-27462309-C-G c.305G>C p.R102P Missense 3/18 - 2
21-27462309-CG-GC c.304_305delinsGC p.R102A Missense 3/18 - 1
21-27462310-G-A c.304C>T p.R102C Missense 3/18 - 2
21-27462310-G-C c.304C>G p.R102G Missense 3/18 - 1
21-27462310-G-T c.304C>A p.R102S Missense 3/18 - 1
21-27462312-C-A c.302G>T p.G101V Missense 3/18 - 4
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-C-G c.299G>C p.R100P Missense 3/18 - 2
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
21-27462315-C-T c.299G>A p.R100Q Missense 3/18 - 2
21-27462316-G-A c.298C>T p.R100W Missense 3/18 - 8
21-27462318-T-C c.296A>G p.K99R Missense 3/18 - 1
21-27462319-T-C c.295A>G p.K99E Missense 3/18 - 1
21-27462320-G-A c.294C>T p.C98= Synonymous 3/18 - 1
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
21-27462326-G-A c.288C>T p.N96= Synonymous 3/18 - 1
21-27462327-TT-GC c.286_287delinsGC p.N96A Missense 3/18 - 1
21-27462334-T-G c.280A>C p.I94L Missense 3/18 - 1
21-27462335-G-A c.279C>T p.T93= Synonymous 3/18 - 1
21-27462335-GG-CA c.278_279delinsTG p.T93M Missense 3/18 - 1
21-27462336-G-A c.278C>T p.T93I Missense 3/18 - 1
21-27462337-T-G c.277A>C p.T93P Missense 3/18 - 1
21-27462340-C-T c.274G>A p.V92M Missense 3/18 - 1
21-27462341-T-A c.273A>T p.P91= Synonymous 3/18 - 1
21-27462341-T-C c.273A>G p.P91= Synonymous 3/18 - 1
21-27462341-T-G c.273A>C p.P91= Synonymous 3/18 - 1
21-27462342-G-A c.272C>T p.P91L Missense 3/18 - 2
21-27462343-G-A c.271C>T p.P91S Missense 3/18 - 1
21-27462344-T-C c.270A>G p.Q90= Synonymous 3/18 - 2
21-27462345-T-C c.269A>G p.Q90R Missense 3/18 - 3
21-27462346-G-A c.268C>T p.Q90* Nonsense 3/18 - 1
21-27462347-G-A c.267C>T p.N89= Synonymous 3/18 - 1
21-27462350-G-A c.264C>T p.A88= Synonymous 3/18 - 1
21-27462350-G-C c.264C>G p.A88= Synonymous 3/18 - 1
21-27462350-G-T c.264C>A p.A88= Synonymous 3/18 - 1
21-27462351-G-T c.263C>A p.A88D Missense 3/18 - 1
21-27462352-C-T c.262G>A p.A88T 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
21-27462363-T-C c.251A>G p.N84S Missense 3/18 - 1
21-27462366-GGTGATC-G c.243_248del p.Q81_T83delinsH MultiAAMissense 3/18 - 1
21-27462368-G-A c.246C>T p.I82= Synonymous 3/18 - 1
21-27462368-G-C c.246C>G p.I82M Missense 3/18 - 1
21-27462371-C-A c.243G>T p.Q81H Missense 3/18 - 1
21-27462371-C-G c.243G>C p.Q81H Missense 3/18 - 1
21-27462372-T-A c.242A>T p.Q81L Missense 3/18 - 1
21-27462372-TG-GC c.241_242delinsGC p.Q81A Missense 3/18 - 1
21-27462374-C-A c.240G>T p.L80= Synonymous 3/18 - 1
21-27462379-C-T c.235G>A p.E79K Missense 3/18 - 1
21-27462380-A-C c.234T>G p.P78= Synonymous 3/18 - 1
21-27462380-A-G c.234T>C p.P78= Synonymous 3/18 - 1
21-27462380-A-T c.234T>A p.P78= Synonymous 3/18 - 1
21-27462381-G-C c.233C>G p.P78R Missense 3/18 - 1
21-27462382-G-T c.232C>A p.P78T Missense 3/18 - 1
21-27462384-T-C c.230A>G p.Y77C Missense 3/18 - 1
21-27462385-A-G c.229T>C p.Y77H Missense 3/18 - 1
21-27462388-C-T c.226G>A p.V76I Missense 3/18 - 5
21-27462412-C-A c.226-24G>T - IntronicSNV - 2/17 1
21-27462412-C-G c.226-24G>C - IntronicSNV - 2/17 1
21-27462422-T-C c.226-34A>G - IntronicSNV - 2/17 2
21-27462727-A-C c.226-339T>G - IntronicSNV - 2/17 1
21-27464270-A-G c.226-1882T>C - IntronicSNV - 2/17 2
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 3
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 5
21-27473875-C-T c.225+10421G>A - IntronicSNV - 2/17 5
21-27475811-A-C c.225+8485T>G - IntronicSNV - 2/17 1
21-27476104-G-T c.225+8192C>A - IntronicSNV - 2/17 6
21-27476634-A-G c.225+7662T>C - IntronicSNV - 2/17 1
21-27481317-T-G c.225+2979A>C - IntronicSNV - 2/17 1
21-27481343-A-C c.225+2953T>G - IntronicSNV - 2/17 1
21-27484099-G-A c.225+197C>T - IntronicSNV - 2/17 1
21-27484217-C-T c.225+79G>A - IntronicSNV - 2/17 1
21-27484284-G-C c.225+12C>G - 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
21-27484300-T-A c.221A>T p.Q74L Missense 2/18 - 1
21-27484306-T-C c.215A>G p.Y72C Missense 2/18 - 2
21-27484308-C-T c.213G>A p.Q71= Synonymous 2/18 - 1
21-27484309-T-A c.212A>T p.Q71L Missense 2/18 - 4
21-27484309-T-C c.212A>G p.Q71R Missense 2/18 - 1
21-27484310-G-A c.211C>T p.Q71* Nonsense 2/18 - 1
21-27484310-G-GTTCTTGGCAATACTGCAGGATGCCTTCCTTGGTATCAATGCAGGTTTTGGTCCCTGATGGATCTGAATCCCA c.210_211insTGGGATTCAGATCCATCAGGGACCAAAACCTGCATTGATACCAAGGAAGGCATCCTGCAGTATTGCCAAGAA p.L70_Q71insWDSDPSGTKTCIDTKEGILQYCQE InFrameInsertion 2/18 - 1
21-27484311-C-A c.210G>T p.L70= Synonymous 2/18 - 1
21-27484311-C-G c.210G>C p.L70= Synonymous 2/18 - 1
21-27484311-C-T c.210G>A p.L70= Synonymous 2/18 - 1
21-27484313-G-A c.208C>T p.L70= Synonymous 2/18 - 1
21-27484316-T-C c.205A>G p.I69V Missense 2/18 - 1
21-27484317-G-T c.204C>A p.G68= Synonymous 2/18 - 1
21-27484318-CC-AT c.202_203delinsAT p.G68I Missense 2/18 - 1
21-27484318-C-G c.203G>C p.G68A Missense 2/18 - 2
21-27484319-C-A c.202G>T p.G68C Missense 2/18 - 1
21-27484319-C-G c.202G>C p.G68R Missense 2/18 - 1
21-27484321-T-G c.200A>C p.E67A Missense 2/18 - 1
21-27484322-C-T c.199G>A p.E67K Missense 2/18 - 1
21-27484325-T-C c.196A>G p.K66E Missense 2/18 - 1
21-27484327-G-C c.194C>G p.T65S Missense 2/18 - 2
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 - 2
21-27484328-T-C c.193A>G p.T65A Missense 2/18 - 2
21-27484329-A-G c.192T>C p.D64= Synonymous 2/18 - 1
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-A c.186C>T p.C62= Synonymous 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 - 2
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 - 2
21-27484338-GG-CA c.182_183delinsTG p.T61M 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 - 4
21-27484347-CCC-GCT c.172_174delinsAGC p.G58S Missense 2/18 - 1
21-27484347-C-G c.174G>C p.G58= Synonymous 2/18 - 1
21-27484348-C-A c.173G>T p.G58V Missense 2/18 - 1
21-27484348-CC-TA c.172_173delinsTA p.G58* Nonsense 2/18 - 1
21-27484348-C-T c.173G>A p.G58E 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 - 2
21-27484352-A-G c.169T>C p.S57P Missense 2/18 - 2
21-27484357-TC-AA c.163_164delinsTT p.D55F Missense 2/18 - 1
21-27484359-T-A c.162A>T p.S54= Synonymous 2/18 - 1
21-27484359-T-C c.162A>G p.S54= Synonymous 2/18 - 1
21-27484359-T-G c.162A>C p.S54= Synonymous 2/18 - 1
21-27484360-G-A c.161C>T p.S54L Missense 2/18 - 1
21-27484361-A-T c.160T>A p.S54T Missense 2/18 - 1
21-27484362-A-C c.159T>G p.D53E Missense 2/18 - 2
21-27484362-A-T c.159T>A p.D53E Missense 2/18 - 2
21-27484362-ATC-CAT c.157_159delinsATG p.D53M Missense 2/18 - 1
21-27484362-ATC-CCA c.157_159delinsTGG p.D53W Missense 2/18 - 1
21-27484362-ATC-CTT c.157_159delinsAAG p.D53K Missense 2/18 - 1
21-27484362-ATC-TTA c.157_159delinsTAA p.D53* Nonsense 2/18 - 2
21-27484362-ATC-TTG c.157_159delinsCAA p.D53Q Missense 2/18 - 1
21-27484363-T-A c.158A>T p.D53V Missense 2/18 - 1
21-27484363-T-C c.158A>G p.D53G Missense 2/18 - 1
21-27484363-TC-AA c.157_158delinsTT p.D53F Missense 2/18 - 1
21-27484363-TC-AG c.157_158delinsCT p.D53L Missense 2/18 - 1
21-27484363-TC-AT c.157_158delinsAT p.D53I Missense 2/18 - 1
21-27484363-TC-CA c.157_158delinsTG p.D53C Missense 2/18 - 1
21-27484363-TC-CG c.157_158delinsCG p.D53R Missense 2/18 - 1
21-27484363-TC-CT c.157_158delinsAG p.D53S Missense 2/18 - 1
21-27484363-TC-GG c.157_158delinsCC p.D53P Missense 2/18 - 1
21-27484363-TC-GT c.157_158delinsAC p.D53T Missense 2/18 - 1
21-27484363-T-G c.158A>C p.D53A Missense 2/18 - 1
21-27484364-C-A c.157G>T p.D53Y Missense 2/18 - 1
21-27484364-C-G c.157G>C p.D53H Missense 2/18 - 1
21-27484364-C-T c.157G>A p.D53N Missense 2/18 - 1
21-27484365-C-T c.156G>A p.W52* Nonsense 2/18 - 1
21-27484366-C-A c.155G>T p.W52L Missense 2/18 - 2
21-27484369-T-G c.152A>C p.K51T Missense 2/18 - 1
21-27484371-CCC-GCT c.148_150delinsAGC p.G50S Missense 2/18 - 1
21-27484373-C-T c.148G>A p.G50R Missense 2/18 - 1
21-27484374-A-C c.147T>G p.N49K Missense 2/18 - 1
21-27484374-A-T c.147T>A p.N49K Missense 2/18 - 1
21-27484378-T-C c.143A>G p.Q48R Missense 2/18 - 1
21-27484379-G-A c.142C>T p.Q48* Nonsense 2/18 - 1
21-27484382-C-G c.139G>C p.V47L Missense 2/18 - 1
21-27484384-T-C c.137A>G p.N46S Missense 2/18 - 1
21-27484385-T-C c.136A>G p.N46D Missense 2/18 - 2
21-27484388-T-A c.133A>T p.M45L Missense 2/18 - 1
21-27484388-T-G c.133A>C p.M45L 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
21-27484393-AT-GC c.127_128delinsGC p.M43A Missense 2/18 - 3
21-27484394-T-A c.127A>T p.M43L Missense 2/18 - 1
21-27484395-GTT-TTG c.124_126delinsCAA p.N42Q Missense 2/18 - 1
21-27484397-T-G c.124A>C p.N42H Missense 2/18 - 4
21-27484399-A-G c.122T>C p.L41P Missense 2/18 - 2
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 - 2
21-27484402-CT-AG c.118_119inv p.R40L Missense 2/18 - 1
21-27484403-T-A c.118A>T p.R40* Nonsense 2/18 - 1
21-27484403-T-C c.118A>G p.R40G Missense 2/18 - 1
21-27484404-GC-CT c.116_117delinsAG p.G39E Missense 2/18 - 1
21-27484405-C-G c.116G>C p.G39A Missense 2/18 - 3
21-27484406-C-A c.115G>T p.G39C Missense 2/18 - 1
21-27484406-C-T c.115G>A p.G39S Missense 2/18 - 1
21-27484407-A-G c.114T>C p.C38= Synonymous 2/18 - 1
21-27484408-CA-GC c.112_113delinsGC p.C38A Missense 2/18 - 1
21-27484408-CA-TC c.112_113delinsGA p.C38D Missense 2/18 - 2
21-27484408-CA-TG c.112_113inv p.C38H Missense 2/18 - 1
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-CC c.109_110delinsGG p.F37G Missense 2/18 - 1
21-27484411-AA-GC c.109_110delinsGC p.F37A Missense 2/18 - 2
21-27484412-A-C c.109T>G p.F37V Missense 2/18 - 1
21-27484413-C-A c.108G>T p.M36I Missense 2/18 - 2
21-27484413-C-G c.108G>C p.M36I Missense 2/18 - 2
21-27484413-C-T c.108G>A p.M36I Missense 2/18 - 2
21-27484414-AT-TA c.106_107delinsTA p.M36* Nonsense 2/18 - 1
21-27484417-G-A c.104C>T p.A35V Missense 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 - 3
21-27484421-T-C c.100A>G p.I34V Missense 2/18 - 6
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
21-27484425-GGG-TTA c.94_96delinsTAA p.P32* Nonsense 2/18 - 1
21-27484426-G-A c.95C>T p.P32L Missense 2/18 - 3
21-27484427-G-T c.94C>A p.P32T Missense 2/18 - 1
21-27484428-T-C c.93A>G p.E31= Synonymous 2/18 - 1
21-27484430-C-G c.91G>C p.E31Q Missense 2/18 - 1
21-27484430-C-T c.91G>A p.E31K Missense 2/18 - 1
21-27484431-A-C c.90T>G p.A30= Synonymous 2/18 - 1
21-27484431-A-G c.90T>C p.A30= Synonymous 2/18 - 1
21-27484431-AGC-CCA c.88_90delinsTGG p.A30W Missense 2/18 - 1
21-27484431-AG-CT c.89_90inv p.A30E Missense 2/18 - 3
21-27484431-AGC-TTA c.88_90delinsTAA p.A30* Nonsense 2/18 - 1
21-27484431-A-T c.90T>A p.A30= Synonymous 2/18 - 1
21-27484432-G-C c.89C>G p.A30G Missense 2/18 - 2
21-27484432-GC-AT c.88_89delinsAT p.A30I Missense 2/18 - 1
21-27484432-GC-CA c.88_89delinsTG p.A30C Missense 2/18 - 2
21-27484432-GC-CG c.88_89delinsCG p.A30R Missense 2/18 - 1
21-27484432-GC-TA c.88_89delinsTA p.A30Y 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 - 162
21-27484433-C-T c.88G>A p.A30T Missense 2/18 - 1
21-27484434-C-A c.87G>T p.L29= Synonymous 2/18 - 1
21-27484434-C-G c.87G>C p.L29= Synonymous 2/18 - 1
21-27484434-C-T c.87G>A p.L29= Synonymous 2/18 - 1
21-27484436-G-A c.85C>T p.L29= Synonymous 2/18 - 1
21-27484437-C-A c.84G>T p.L28= Synonymous 2/18 - 2
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 - 6
21-27484438-AG-CC c.82_83delinsGG p.L28G Missense 2/18 - 1
21-27484438-CA-C c.83del p.L28Rfs*14 Frameshift 2/18 - 1
21-27484439-G-C c.82C>G p.L28V Missense 2/18 - 1
21-27484440-GC-CT c.80_81delinsAG p.G27E Missense 2/18 - 1
21-27484443-AGC-CAT c.76_78delinsATG p.A26M Missense 2/18 - 1
21-27484443-AG-CT c.77_78inv p.A26E Missense 2/18 - 2
21-27484443-AGC-TTA c.76_78delinsTAA p.A26* Nonsense 2/18 - 2
21-27484444-G-C c.77C>G p.A26G Missense 2/18 - 6
21-27484444-GC-AA c.76_77delinsTT p.A26F Missense 2/18 - 1
21-27484444-GC-CA c.76_77delinsTG p.A26C Missense 2/18 - 2
21-27484444-GC-TA c.76_77delinsTA p.A26Y Missense 2/18 - 1
21-27484444-GC-TT c.76_77delinsAA p.A26N Missense 2/18 - 1
21-27484447-T-A c.74A>T p.N25I Missense 2/18 - 1
21-27484449-ACC-TCA c.70_72delinsTGA p.G24* Nonsense 2/18 - 1
21-27484449-TA-T c.72del p.N25Mfs*17 Frameshift 2/18 - 1
21-27484450-C-T c.71G>A p.G24D Missense 2/18 - 1
21-27484452-ATC-CTT c.67_69delinsAAG p.D23K Missense 2/18 - 5
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 - 3
21-27484454-C-T c.67G>A p.D23N Missense 2/18 - 107
21-27484456-G-T c.65C>A p.T22N Missense 2/18 - 7
21-27484457-T-G c.64A>C p.T22P Missense 2/18 - 1
21-27484458-G-A c.63C>T p.P21= Synonymous 2/18 - 1
21-27484458-G-C c.63C>G p.P21= Synonymous 2/18 - 1
21-27484458-GGG-CCA c.61_63delinsTGG p.P21W Missense 2/18 - 1
21-27484458-GGG-TTA c.61_63delinsTAA p.P21* Nonsense 2/18 - 1
21-27484458-G-T c.63C>A p.P21= Synonymous 2/18 - 1
21-27484459-G-A c.62C>T p.P21L 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 - 3
21-27484461-T-A c.60A>T p.V20= Synonymous 2/18 - 1
21-27484461-TAC-ACA c.58_60delinsTGT p.V20C Missense 2/18 - 1
21-27484461-T-C c.60A>G p.V20= Synonymous 2/18 - 1
21-27484461-T-G c.60A>C p.V20= Synonymous 2/18 - 1
21-27484462-A-G c.59T>C p.V20A Missense 2/18 - 1
21-27484463-C-A c.58G>T p.V20L Missense 2/18 - 1
21-27484463-C-G c.58G>C p.V20L Missense 2/18 - 1
21-27484463-C-T c.58G>A p.V20I Missense 2/18 - 3
21-27484477-C-G c.58-14G>C - IntronicSNV - 1/17 1
21-27484477-C-T c.58-14G>A - IntronicSNV - 1/17 1
21-27484499-T-C c.58-36A>G - IntronicSNV - 1/17 1
21-27484549-A-C c.58-86T>G - IntronicSNV - 1/17 1
21-27484968-T-C c.58-505A>G - IntronicSNV - 1/17 1
21-27485347-C-T c.58-884G>A - IntronicSNV - 1/17 2
21-27487291-A-G c.58-2828T>C - 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 3
21-27494202-C-G c.58-9739G>C - IntronicSNV - 1/17 3
21-27494202-C-T c.58-9739G>A - IntronicSNV - 1/17 3
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 3
21-27501040-A-G c.58-16577T>C - IntronicSNV - 1/17 1
21-27501142-T-A c.58-16679A>T - IntronicSNV - 1/17 1
21-27501142-T-C c.58-16679A>G - IntronicSNV - 1/17 1
21-27501808-T-C c.58-17345A>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 2
21-27502468-T-C c.58-18005A>G - IntronicSNV - 1/17 2
21-27502723-C-A c.58-18260G>T - IntronicSNV - 1/17 3
21-27503422-C-T c.58-18959G>A - IntronicSNV - 1/17 3
21-27503588-A-T c.58-19125T>A - IntronicSNV - 1/17 1
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 2
21-27512704-T-C c.58-28241A>G - 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 2
21-27513837-A-G c.57+29045T>C - IntronicSNV - 1/17 2
21-27514373-G-A c.57+28509C>T - IntronicSNV - 1/17 3
21-27514373-G-C c.57+28509C>G - IntronicSNV - 1/17 3
21-27514740-T-C c.57+28142A>G - IntronicSNV - 1/17 5
21-27514967-G-A c.57+27915C>T - IntronicSNV - 1/17 1
21-27515239-C-G c.57+27643G>C - IntronicSNV - 1/17 1
21-27515239-C-T c.57+27643G>A - IntronicSNV - 1/17 1
21-27516560-G-C c.57+26322C>G - IntronicSNV - 1/17 1
21-27516560-G-T c.57+26322C>A - IntronicSNV - 1/17 1
21-27517077-A-C c.57+25805T>G - IntronicSNV - 1/17 2
21-27517077-A-T c.57+25805T>A - IntronicSNV - 1/17 2
21-27517203-T-C c.57+25679A>G - IntronicSNV - 1/17 1
21-27519066-GTTCAT-G c.57+23811_57+23815del - IntronicDeletion - 1/17 1
21-27520714-T-C c.57+22168A>G - IntronicSNV - 1/17 2
21-27520773-G-C c.57+22109C>G - IntronicSNV - 1/17 1
21-27520931-G-T c.57+21951C>A - 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
21-27526886-G-C c.57+15996C>G - IntronicSNV - 1/17 1
21-27529562-AT-A c.57+13319del - IntronicDeletion - 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 2
21-27532072-A-G c.57+10810T>C - IntronicSNV - 1/17 1
21-27533022-C-G c.57+9860G>C - IntronicSNV - 1/17 2
21-27533329-G-A c.57+9553C>T - IntronicSNV - 1/17 1
21-27534261-T-A c.57+8621A>T - IntronicSNV - 1/17 2
21-27534261-T-C c.57+8621A>G - IntronicSNV - 1/17 2
21-27534816-G-A c.57+8066C>T - IntronicSNV - 1/17 2
21-27535027-C-T c.57+7855G>A - IntronicSNV - 1/17 3
21-27537092-T-C c.57+5790A>G - IntronicSNV - 1/17 1
21-27537584-A-G c.57+5298T>C - IntronicSNV - 1/17 1
21-27542725-G-C c.57+157C>G - 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
21-27542883-T-G c.56A>C p.E19A Missense 1/18 - 1
21-27542884-C-G c.55G>C p.E19Q Missense 1/18 - 1
21-27542885-C-A c.54G>T p.L18= Synonymous 1/18 - 2
21-27542885-C-G c.54G>C p.L18= Synonymous 1/18 - 2
21-27542885-C-T c.54G>A p.L18= Synonymous 1/18 - 2
21-27542887-G-A c.52C>T p.L18= Synonymous 1/18 - 2
21-27542886-AG-GC c.52_53delinsGC p.L18A Missense 1/18 - 6
21-27542886-AG-TC c.52_53delinsGA p.L18E Missense 1/18 - 1
21-27542887-G-C c.52C>G p.L18V Missense 1/18 - 1
21-27542887-G-T c.52C>A p.L18M Missense 1/18 - 1
21-27542888-C-A c.51G>T p.A17= Synonymous 1/18 - 2
21-27542888-C-G c.51G>C p.A17= Synonymous 1/18 - 1
21-27542888-CG-GT c.50_51delinsAC p.A17D Missense 1/18 - 2
21-27542888-C-T c.51G>A p.A17= Synonymous 1/18 - 1
21-27542889-G-A c.50C>T p.A17V Missense 1/18 - 1
21-27542889-G-C c.50C>G p.A17G Missense 1/18 - 1
21-27542889-GC-TG c.49_50delinsCA p.A17Q Missense 1/18 - 2
21-27542889-G-T c.50C>A p.A17E Missense 1/18 - 1
21-27542891-CC-AT c.47_48delinsAT p.R16H 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-C-G c.47G>C p.R16P 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 - 2
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 - 3
21-27542893-G-C c.46C>G p.R16G Missense 1/18 - 3
21-27542893-G-T c.46C>A p.R16= Synonymous 1/18 - 1
21-27542894-A-C c.45T>G p.A15= Synonymous 1/18 - 2
21-27542894-A-G c.45T>C p.A15= Synonymous 1/18 - 2
21-27542894-AGC-CAT c.43_45delinsATG p.A15M Missense 1/18 - 2
21-27542894-AGC-CTT c.43_45delinsAAG p.A15K Missense 1/18 - 2
21-27542894-AG-CT c.44_45inv p.A15E Missense 1/18 - 2
21-27542894-AGC-TTA c.43_45delinsTAA p.A15* Nonsense 1/18 - 1
21-27542894-A-T c.45T>A p.A15= Synonymous 1/18 - 2
21-27542895-G-A c.44C>T p.A15V Missense 1/18 - 2
21-27542895-G-C c.44C>G p.A15G Missense 1/18 - 1
21-27542895-GC-AA c.43_44delinsTT p.A15F Missense 1/18 - 1
21-27542895-GC-AG c.43_44delinsCT p.A15L Missense 1/18 - 2
21-27542895-GC-AT c.43_44delinsAT p.A15I Missense 1/18 - 1
21-27542895-GC-CA c.43_44delinsTG p.A15C Missense 1/18 - 2
21-27542895-G-T c.44C>A p.A15D Missense 1/18 - 1
21-27542896-C-A c.43G>T p.A15S Missense 1/18 - 2
21-27542896-C-G c.43G>C p.A15P Missense 1/18 - 1
21-27542897-C-A c.42G>T p.T14= Synonymous 1/18 - 1
21-27542897-C-G c.42G>C p.T14= Synonymous 1/18 - 1
21-27542897-C-T c.42G>A p.T14= Synonymous 1/18 - 1
21-27542898-GT-CA c.40_41delinsTG p.T14W Missense 1/18 - 1
21-27542899-T-C c.40A>G p.T14A 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-GGC-CAT c.34_36delinsATG p.A12M Missense 1/18 - 2
21-27542903-GGC-CCA c.34_36delinsTGG p.A12W Missense 1/18 - 1
21-27542903-GG-CT c.35_36delinsAG p.A12E Missense 1/18 - 2
21-27542903-GGC-TTA c.34_36delinsTAA p.A12* Nonsense 1/18 - 1
21-27542903-GGC-TTG c.34_36delinsCAA p.A12Q Missense 1/18 - 2
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 - 3
21-27542904-GC-CA c.34_35delinsTG p.A12C Missense 1/18 - 2
21-27542904-GC-TG c.34_35delinsCA p.A12H Missense 1/18 - 1
21-27542904-GC-TT c.34_35delinsAA p.A12N Missense 1/18 - 1
21-27542904-G-T c.35C>A p.A12D Missense 1/18 - 2
21-27542905-C-G c.34G>C p.A12P 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 - 3
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-GC-TT c.31_32delinsAA p.A11N Missense 1/18 - 2
21-27542907-G-T c.32C>A p.A11D Missense 1/18 - 1
21-27542908-C-A c.31G>T p.A11S Missense 1/18 - 1
21-27542908-C-T c.31G>A p.A11T 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 - 9
21-27542910-AG-TC c.28_29delinsGA p.L10E Missense 1/18 - 1
21-27542910-AG-TT c.28_29delinsAA p.L10K Missense 1/18 - 1
21-27542915-G-A c.24C>T p.L8= Synonymous 1/18 - 1
21-27542915-G-C c.24C>G p.L8= Synonymous 1/18 - 1
21-27542915-G-T c.24C>A p.L8= Synonymous 1/18 - 1
21-27542917-G-A c.22C>T p.L8F Missense 1/18 - 4
21-27542918-C-A c.21G>T p.L7= Synonymous 1/18 - 1
21-27542918-C-G c.21G>C p.L7= Synonymous 1/18 - 1
21-27542918-C-T c.21G>A p.L7= Synonymous 1/18 - 1
21-27542920-G-A c.19C>T p.L7= Synonymous 1/18 - 1
21-27542919-A-G c.20T>C p.L7P Missense 1/18 - 1
21-27542919-AG-CA c.19_20delinsTG p.L7W Missense 1/18 - 1
21-27542921-T-A c.18A>T p.A6= Synonymous 1/18 - 1
21-27542921-T-C c.18A>G p.A6= Synonymous 1/18 - 1
21-27542921-T-G c.18A>C p.A6= Synonymous 1/18 - 1
21-27542922-G-A c.17C>T p.A6V Missense 1/18 - 2
21-27542924-C-T c.15G>A p.L5= Synonymous 1/18 - 1
21-27542926-A-G c.13T>C p.L5= Synonymous 1/18 - 1
21-27542927-A-C c.12T>G p.G4= Synonymous 1/18 - 2
21-27542927-A-G c.12T>C p.G4= Synonymous 1/18 - 2
21-27542927-A-T c.12T>A p.G4= Synonymous 1/18 - 2
21-27542929-C-G c.10G>C p.G4R Missense 1/18 - 1
21-27542930-G-A c.9C>T p.P3= Synonymous 1/18 - 3
21-27542930-G-C c.9C>G p.P3= Synonymous 1/18 - 3
21-27542930-G-T c.9C>A p.P3= Synonymous 1/18 - 3
21-27542933-C-A c.6G>T p.L2= Synonymous 1/18 - 4
21-27542933-C-G c.6G>C p.L2= Synonymous 1/18 - 4
21-27542933-C-T c.6G>A p.L2= Synonymous 1/18 - 4
21-27542935-G-A c.4C>T p.L2= Synonymous 1/18 - 4
21-27542935-G-GTTTC c.3_4insGAAA p.L2Efs*23 Frameshift 1/18 - 1
21-27542937-A-G c.2T>C p.M1? Missense 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 - 11
21-27543049-C-T c.-111G>A - 5-UTRSNV 1/18 - 11
21-27543086-G-A c.-148C>T - 5-UTRSNV 1/18 - 1