DOT1L

DOT1L DOT1 like histone lysine methyltransferase

Annotation transcript: NM_032482.3

2415 unique variant annotations were identified in 914 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
19-2164184-A-C c.1A>C p.M1? Missense 1/28 - 1
19-2164184-A-T c.1A>T p.M1? Missense 1/28 - 1
19-2164191-A-G c.8A>G p.E3G Missense 1/28 - 1
19-2164193-A-G c.10A>G p.K4E Missense 1/28 - 1
19-2164199-G-A c.16G>A p.E6K Missense 1/28 - 1
19-2164204-G-A c.21G>A p.L7= Synonymous 1/28 - 1
19-2164205-A-G c.22A>G p.R8G Missense 1/28 - 1
19-2164206-G-A c.23G>A p.R8K Missense 1/28 - 1
19-2164208-C-T c.25C>T p.L9= Synonymous 1/28 - 2
19-2164210-G-A c.27G>A p.L9= Synonymous 1/28 - 1
19-2164210-G-C c.27G>C p.L9= Synonymous 1/28 - 1
19-2164210-G-T c.27G>T p.L9= Synonymous 1/28 - 1
19-2164213-G-T c.30G>T p.K10N Missense 1/28 - 1
19-2164214-TC-GA c.31_32inv p.S11E Missense 1/28 - 1
19-2164214-TCG-GAC c.31_33delinsGAC p.S11D Missense 1/28 - 1
19-2164214-T-G c.31T>G p.S11A Missense 1/28 - 7
19-2164215-CG-GT c.32_33delinsGT p.S11C Missense 1/28 - 3
19-2164215-CG-TT c.32_33delinsTT p.S11F Missense 1/28 - 1
19-2164217-C-T c.34C>T p.P12S Missense 1/28 - 1
19-2164218-C-T c.35C>T p.P12L Missense 1/28 - 2
19-2164219-C-T c.36C>T p.P12= Synonymous 1/28 - 1
19-2164223-GGG-AGC c.40_42delinsAGC p.G14S Missense 1/28 - 1
19-2164225-G-A c.42G>A p.G14= Synonymous 1/28 - 1
19-2164225-G-C c.42G>C p.G14= Synonymous 1/28 - 1
19-2164225-G-T c.42G>T p.G14= Synonymous 1/28 - 1
19-2164226-G-A c.43G>A p.A15T Missense 1/28 - 1
19-2164226-GCT-AAG c.43_45delinsAAG p.A15K Missense 1/28 - 5
19-2164226-GCT-TAA c.43_45delinsTAA p.A15* Nonsense 1/28 - 1
19-2164227-C-G c.44C>G p.A15G Missense 1/28 - 1
19-2164227-C-T c.44C>T p.A15V Missense 1/28 - 1
19-2164228-T-A c.45T>A p.A15= Synonymous 1/28 - 2
19-2164228-T-C c.45T>C p.A15= Synonymous 1/28 - 2
19-2164228-T-G c.45T>G p.A15= Synonymous 1/28 - 2
19-2164232-C-A c.49C>A p.P17T Missense 1/28 - 1
19-2164235-G-A c.52G>A p.A18T Missense 1/28 - 1
19-2164235-G-C c.52G>C p.A18P Missense 1/28 - 1
19-2164235-GCC-AAG c.52_54delinsAAG p.A18K Missense 1/28 - 1
19-2164236-C-G c.53C>G p.A18G Missense 1/28 - 1
19-2164236-C-T c.53C>T p.A18V Missense 1/28 - 1
19-2164238-G-A c.55G>A p.V19I Missense 1/28 - 1
19-2164239-T-C c.56T>C p.V19A Missense 1/28 - 1
19-2164240-C-G c.57C>G p.V19= Synonymous 1/28 - 1
19-2164248-G-A c.65G>A p.W22* Nonsense 1/28 - 1
19-2164249-G-A c.66G>A p.W22* Nonsense 1/28 - 2
19-2164257-C-T c.74C>T p.P25L Missense 1/28 - 1
19-2164258-G-A c.75G>A p.P25= Synonymous 1/28 - 1
19-2164259-G-A c.76G>A p.V26I Missense 1/28 - 2
19-2164259-GTC-ATG c.76_78delinsATG p.V26M Missense 1/28 - 2
19-2164264-C-T c.81C>T p.Y27= Synonymous 1/28 - 1
19-2164351-T-A c.81+87T>A - IntronicSNV - 1/27 4
19-2164351-T-C c.81+87T>C - IntronicSNV - 1/27 2
19-2169658-CT-C c.81+5401del - IntronicDeletion - 1/27 1
19-2170764-T-C c.81+6500T>C - IntronicSNV - 1/27 1
19-2170764-T-G c.81+6500T>G - IntronicSNV - 1/27 1
19-2170868-G-A c.81+6604G>A - IntronicSNV - 1/27 1
19-2170868-G-C c.81+6604G>C - IntronicSNV - 1/27 1
19-2170868-G-T c.81+6604G>T - IntronicSNV - 1/27 1
19-2170954-A-T c.81+6690A>T - IntronicSNV - 1/27 6
19-2171490-G-A c.81+7226G>A - IntronicSNV - 1/27 1
19-2172709-A-G c.82-8003A>G - IntronicSNV - 1/27 1
19-2174995-A-G c.82-5717A>G - IntronicSNV - 1/27 1
19-2175005-T-A c.82-5707T>A - IntronicSNV - 1/27 1
19-2176403-G-A c.82-4309G>A - IntronicSNV - 1/27 9
19-2176586-A-G c.82-4126A>G - IntronicSNV - 1/27 5
19-2177193-C-A c.82-3519C>A - IntronicSNV - 1/27 24
19-2177193-C-G c.82-3519C>G - IntronicSNV - 1/27 24
19-2177193-C-T c.82-3519C>T - IntronicSNV - 1/27 24
19-2177625-T-G c.82-3087T>G - IntronicSNV - 1/27 1
19-2180514-C-T c.82-198C>T - IntronicSNV - 1/27 1
19-2180515-G-A c.82-197G>A - IntronicSNV - 1/27 2
19-2180666-G-A c.82-46G>A - IntronicSNV - 1/27 1
19-2180666-G-C c.82-46G>C - IntronicSNV - 1/27 1
19-2180666-G-T c.82-46G>T - IntronicSNV - 1/27 1
19-2180712-GAT-AAG c.82_84delinsAAG p.D28K Missense 2/28 - 1
19-2180712-G-C c.82G>C p.D28H Missense 2/28 - 1
19-2180713-A-C c.83A>C p.D28A Missense 2/28 - 1
19-2180720-T-C c.90T>C p.H30= Synonymous 2/28 - 1
19-2180723-C-T c.93C>T p.H31= Synonymous 2/28 - 2
19-2180724-G-A c.94G>A p.D32N Missense 2/28 - 1
19-2180728-CT-AG c.98_99inv p.A33E Missense 2/28 - 1
19-2180733-C-A c.103C>A p.H35N Missense 2/28 - 1
19-2180733-C-T c.103C>T p.H35Y Missense 2/28 - 1
19-2180735-T-C c.105T>C p.H35= Synonymous 2/28 - 1
19-2180737-A-T c.107A>T p.E36V Missense 2/28 - 1
19-2180739-A-G c.109A>G p.I37V Missense 2/28 - 1
19-2180741-C-G c.111C>G p.I37M Missense 2/28 - 1
19-2180744-C-G c.114C>G p.I38M Missense 2/28 - 1
19-2180744-C-T c.114C>T p.I38= Synonymous 2/28 - 1
19-2180747-G-A c.117G>A p.E39= Synonymous 2/28 - 1
19-2180750-C-A c.120C>A p.T40= Synonymous 2/28 - 1
19-2180750-C-G c.120C>G p.T40= Synonymous 2/28 - 1
19-2180750-C-T c.120C>T p.T40= Synonymous 2/28 - 3
19-2180755-G-A c.125G>A p.R42Q Missense 2/28 - 3
19-2180755-G-T c.125G>T p.R42L Missense 2/28 - 2
19-2180760-G-A c.125+5G>A - IntronicSNV - 2/27 1
19-2180880-G-A c.125+125G>A - IntronicSNV - 2/27 1
19-2181479-C-T c.125+724C>T - IntronicSNV - 2/27 1
19-2182435-G-A c.125+1680G>A - IntronicSNV - 2/27 1
19-2182435-G-T c.125+1680G>T - IntronicSNV - 2/27 1
19-2183175-G-T c.125+2420G>T - IntronicSNV - 2/27 1
19-2185726-A-C c.126-128A>C - IntronicSNV - 2/27 1
19-2185726-A-G c.126-128A>G - IntronicSNV - 2/27 1
19-2185856-GG-TT c.128_129delinsTT p.W43F Missense 3/28 - 2
19-2185858-G-A c.130G>A p.V44I Missense 3/28 - 1
19-2185859-T-C c.131T>C p.V44A Missense 3/28 - 1
19-2185860-C-A c.132C>A p.V44= Synonymous 3/28 - 1
19-2185860-C-G c.132C>G p.V44= Synonymous 3/28 - 1
19-2185860-C-T c.132C>T p.V44= Synonymous 3/28 - 1
19-2185861-T-G c.133T>G p.C45G Missense 3/28 - 1
19-2185861-TG-GC c.133_134delinsGC p.C45A Missense 3/28 - 1
19-2185862-G-GT c.135dup p.E46* Nonsense 3/28 - 1
19-2185865-A-G c.137A>G p.E46G Missense 3/28 - 5
19-2185867-G-A c.139G>A p.E47K Missense 3/28 - 2
19-2185868-A-G c.140A>G p.E47G Missense 3/28 - 1
19-2185868-A-T c.140A>T p.E47V Missense 3/28 - 3
19-2185870-A-T c.142A>T p.I48F Missense 3/28 - 2
19-2185872-C-A c.144C>A p.I48= Synonymous 3/28 - 1
19-2185873-C-T c.145C>T p.P49S Missense 3/28 - 2
19-2185874-C-T c.146C>T p.P49L Missense 3/28 - 6
19-2185875-G-A c.147G>A p.P49= Synonymous 3/28 - 1
19-2185875-G-C c.147G>C p.P49= Synonymous 3/28 - 1
19-2185875-G-T c.147G>T p.P49= Synonymous 3/28 - 1
19-2185876-G-A c.148G>A p.D50N Missense 3/28 - 1
19-2185881-C-A c.153C>A p.L51= Synonymous 3/28 - 1
19-2185881-C-G c.153C>G p.L51= Synonymous 3/28 - 1
19-2185881-C-T c.153C>T p.L51= Synonymous 3/28 - 1
19-2185884-G-A c.156G>A p.K52= Synonymous 3/28 - 1
19-2185886-T-C c.158T>C p.L53P Missense 3/28 - 1
19-2185887-C-A c.159C>A p.L53= Synonymous 3/28 - 1
19-2185888-G-A c.160G>A p.A54T Missense 3/28 - 3
19-2185888-GC-CG c.160_161delinsCG p.A54R Missense 3/28 - 1
19-2185888-GC-TG c.160_161delinsTG p.A54C Missense 3/28 - 1
19-2185889-C-T c.161C>T p.A54V Missense 3/28 - 1
19-2185890-T-A c.162T>A p.A54= Synonymous 3/28 - 1
19-2185890-T-C c.162T>C p.A54= Synonymous 3/28 - 1
19-2185890-T-G c.162T>G p.A54= Synonymous 3/28 - 1
19-2185891-A-C c.163A>C p.M55L Missense 3/28 - 1
19-2185891-A-G c.163A>G p.M55V Missense 3/28 - 1
19-2185891-A-T c.163A>T p.M55L Missense 3/28 - 1
19-2185893-G-A c.165G>A p.M55I Missense 3/28 - 1
19-2185894-G-A c.166G>A p.E56K Missense 3/28 - 4
19-2185894-G-T c.166G>T p.E56* Nonsense 3/28 - 1
19-2185896-G-A c.168G>A p.E56= Synonymous 3/28 - 1
19-2185898-A-G c.170A>G p.N57S Missense 3/28 - 1
19-2185901-A-C c.173A>C p.Y58S Missense 3/28 - 1
19-2185901-A-T c.173A>T p.Y58F Missense 3/28 - 2
19-2185903-G-A c.175G>A p.V59I Missense 3/28 - 6
19-2185905-T-A c.177T>A p.V59= Synonymous 3/28 - 1
19-2185905-T-C c.177T>C p.V59= Synonymous 3/28 - 1
19-2185905-T-G c.177T>G p.V59= Synonymous 3/28 - 3
19-2185906-TTA-ATG c.178_180delinsATG p.L60M Missense 3/28 - 1
19-2185907-TA-GG c.179_180delinsGG p.L60W Missense 3/28 - 1
19-2185909-A-T c.181A>T p.I61F Missense 3/28 - 1
19-2185911-T-C c.183T>C p.I61= Synonymous 3/28 - 1
19-2185913-A-G c.185A>G p.D62G Missense 3/28 - 1
19-2185914-C-A c.186C>A p.D62E Missense 3/28 - 7
19-2185914-C-G c.186C>G p.D62E Missense 3/28 - 5
19-2185914-C-T c.186C>T p.D62= Synonymous 3/28 - 1
19-2185928-G-A c.200G>A p.S67N Missense 3/28 - 1
19-2185928-G-C c.200G>C p.S67T Missense 3/28 - 1
19-2185956-G-A c.200+28G>A - IntronicSNV - 3/27 1
19-2185981-G-A c.200+53G>A - IntronicSNV - 3/27 1
19-2185996-C-T c.200+68C>T - IntronicSNV - 3/27 1
19-2186770-G-A c.200+842G>A - IntronicSNV - 3/27 1
19-2186770-G-T c.200+842G>T - IntronicSNV - 3/27 1
19-2188935-A-G c.201-796A>G - IntronicSNV - 3/27 1
19-2189732-T-A c.202T>A p.F68I Missense 4/28 - 1
19-2189732-T-C c.202T>C p.F68L Missense 4/28 - 1
19-2189734-C-A c.204C>A p.F68L Missense 4/28 - 1
19-2189734-C-G c.204C>G p.F68L Missense 4/28 - 1
19-2189734-C-T c.204C>T p.F68= Synonymous 4/28 - 2
19-2189735-GAG-TGT c.205_207delinsTGT p.E69C Missense 4/28 - 1
19-2189742-T-C c.212T>C p.M71T Missense 4/28 - 1
19-2189747-AGG-CAT c.217_219delinsCAT p.R73H Missense 4/28 - 1
19-2189747-A-T c.217A>T p.R73W Missense 4/28 - 1
19-2189748-G-T c.218G>T p.R73M Missense 4/28 - 1
19-2189747-A-C c.217A>C p.R73= Synonymous 4/28 - 3
19-2189749-G-A c.219G>A p.R73= Synonymous 4/28 - 5
19-2189750-C-G c.220C>G p.L74V Missense 4/28 - 1
19-2189752-C-T c.222C>T p.L74= Synonymous 4/28 - 1
19-2189753-TG-GC c.223_224delinsGC p.C75A Missense 4/28 - 1
19-2189754-G-C c.224G>C p.C75S Missense 4/28 - 1
19-2189755-C-T c.225C>T p.C75= Synonymous 4/28 - 4
19-2189758-C-T c.228C>T p.D76= Synonymous 4/28 - 1
19-2189768-CG-AC c.238_239delinsAC p.R80T Missense 4/28 - 1
19-2189768-C-T c.238C>T p.R80C Missense 4/28 - 1
19-2189769-G-C c.239G>C p.R80P Missense 4/28 - 1
19-2189776-C-A c.246C>A p.I82= Synonymous 4/28 - 2
19-2189776-C-T c.246C>T p.I82= Synonymous 4/28 - 1
19-2189777-G-A c.247G>A p.D83N Missense 4/28 - 5
19-2189777-G-T c.247G>T p.D83Y Missense 4/28 - 1
19-2189779-C-T c.249C>T p.D83= Synonymous 4/28 - 1
19-2189787-A-G c.257A>G p.H86R Missense 4/28 - 1
19-2189857-C-T c.264+63C>T - IntronicSNV - 4/27 4
19-2190774-T-A c.265-237T>A - IntronicSNV - 4/27 3
19-2190774-T-G c.265-237T>G - IntronicSNV - 4/27 3
19-2191003-G-A c.265-8G>A - IntronicSNV - 4/27 1
19-2191003-G-T c.265-8G>T - IntronicSNV - 4/27 1
19-2191006-C-T c.265-5C>T - IntronicSNV - 4/27 1
19-2191013-G-A c.267G>A p.W89* Nonsense 5/28 - 1
19-2191015-A-C c.269A>C p.K90T Missense 5/28 - 1
19-2191016-G-C c.270G>C p.K90N Missense 5/28 - 3
19-2191016-G-T c.270G>T p.K90N Missense 5/28 - 3
19-2191017-G-T c.271G>T p.G91C Missense 5/28 - 1
19-2191019-C-A c.273C>A p.G91= Synonymous 5/28 - 3
19-2191019-C-G c.273C>G p.G91= Synonymous 5/28 - 2
19-2191019-C-T c.273C>T p.G91= Synonymous 5/28 - 3
19-2191020-A-T c.274A>T p.T92S Missense 5/28 - 1
19-2191021-C-G c.275C>G p.T92S Missense 5/28 - 1
19-2191023-A-G c.277A>G p.T93A Missense 5/28 - 1
19-2191023-A-T c.277A>T p.T93S Missense 5/28 - 1
19-2191024-C-A c.278C>A p.T93K Missense 5/28 - 1
19-2191024-C-T c.278C>T p.T93M Missense 5/28 - 1
19-2191025-G-A c.279G>A p.T93= Synonymous 5/28 - 1
19-2191029-C-G c.283C>G p.P95A Missense 5/28 - 1
19-2191030-C-A c.284C>A p.P95H Missense 5/28 - 2
19-2191038-C-A c.292C>A p.L98M Missense 5/28 - 1
19-2191038-C-G c.292C>G p.L98V Missense 5/28 - 2
19-2191045-C-A c.299C>A p.T100K Missense 5/28 - 1
19-2191045-C-T c.299C>T p.T100M Missense 5/28 - 5
19-2191046-G-A c.300G>A p.T100= Synonymous 5/28 - 2
19-2191046-G-C c.300G>C p.T100= Synonymous 5/28 - 2
19-2191046-G-T c.300G>T p.T100= Synonymous 5/28 - 2
19-2191047-C-T c.301C>T p.R101W Missense 5/28 - 1
19-2191048-G-A c.302G>A p.R101Q Missense 5/28 - 1
19-2191054-C-A c.308C>A p.S103Y Missense 5/28 - 1
19-2191060-G-C c.314G>C p.G105A Missense 5/28 - 1
19-2191063-T-G c.317T>G p.L106R Missense 5/28 - 1
19-2191064-C-T c.318C>T p.L106= Synonymous 5/28 - 2
19-2191065-C-A c.319C>A p.L107M Missense 5/28 - 2
19-2191065-C-G c.319C>G p.L107V Missense 5/28 - 1
19-2191065-C-T c.319C>T p.L107= Synonymous 5/28 - 1
19-2191067-G-C c.321G>C p.L107= Synonymous 5/28 - 1
19-2191068-C-T c.322C>T p.R108C Missense 5/28 - 4
19-2191069-G-A c.323G>A p.R108H Missense 5/28 - 1
19-2191071-CA-GC c.325_326delinsGC p.H109A Missense 5/28 - 1
19-2191071-C-T c.325C>T p.H109Y Missense 5/28 - 1
19-2191076-C-CTT c.330_331insTT p.L111Ffs*10 Frameshift 5/28 - 1
19-2191077-C-A c.331C>A p.L111M Missense 5/28 - 1
19-2191082-G-A c.336G>A p.Q112= Synonymous 5/28 - 1
19-2191086-G-T c.340G>T p.V114F Missense 5/28 - 2
19-2191087-T-G c.341T>G p.V114G Missense 5/28 - 1
19-2191089-T-A c.343T>A p.Y115N Missense 5/28 - 2
19-2191091-C-A c.345C>A p.Y115* Nonsense 5/28 - 4
19-2191091-C-G c.345C>G p.Y115* Nonsense 5/28 - 3
19-2191099-C-T c.353C>T p.S118L Missense 5/28 - 3
19-2191101-G-C c.355G>C p.V119L Missense 5/28 - 2
19-2191101-G-T c.355G>T p.V119L Missense 5/28 - 3
19-2191104-AC-TG c.358_359delinsTG p.T120C Missense 5/28 - 1
19-2191106-C-T c.360C>T p.T120= Synonymous 5/28 - 1
19-2191107-G-T c.361G>T p.D121Y Missense 5/28 - 1
19-2191110-C-T c.364C>T p.P122S Missense 5/28 - 1
19-2191111-C-A c.365C>A p.P122H Missense 5/28 - 1
19-2191111-C-G c.365C>G p.P122R Missense 5/28 - 3
19-2191111-C-T c.365C>T p.P122L Missense 5/28 - 3
19-2191108-A-AC c.366dup p.E123Rfs*27 Frameshift 5/28 - 1
19-2191112-C-T c.366C>T p.P122= Synonymous 5/28 - 1
19-2191113-CG-C c.367del p.E123Rfs*25 Frameshift 5/28 - 1
19-2191113-G-A c.367G>A p.E123K Missense 5/28 - 5
19-2191115-G-A c.369G>A p.E123= Synonymous 5/28 - 3
19-2191120-T-C c.374T>C p.L125P Missense 5/28 - 1
19-2191121-C-A c.375C>A p.L125= Synonymous 5/28 - 2
19-2191121-C-G c.375C>G p.L125= Synonymous 5/28 - 2
19-2191121-C-T c.375C>T p.L125= Synonymous 5/28 - 2
19-2191122-A-C c.376A>C p.N126H Missense 5/28 - 1
19-2191123-A-G c.377A>G p.N126S Missense 5/28 - 1
19-2191126-A-G c.380A>G p.N127S Missense 5/28 - 2
19-2191129-A-G c.383A>G p.Y128C Missense 5/28 - 1
19-2191129-A-T c.383A>T p.Y128F Missense 5/28 - 1
19-2191131-G-A c.385G>A p.E129K Missense 5/28 - 1
19-2191131-G-C c.385G>C p.E129Q Missense 5/28 - 2
19-2191131-G-T c.385G>T p.E129* Nonsense 5/28 - 2
19-2191132-A-G c.386A>G p.E129G Missense 5/28 - 1
19-2191134-C-A c.388C>A p.P130T Missense 5/28 - 1
19-2191137-T-C c.391T>C p.F131L Missense 5/28 - 1
19-2191137-T-G c.391T>G p.F131V Missense 5/28 - 1
19-2191137-TT-GC c.391_392delinsGC p.F131A Missense 5/28 - 1
19-2191137-TT-GG c.391_392delinsGG p.F131G Missense 5/28 - 1
19-2191139-C-A c.393C>A p.F131L Missense 5/28 - 1
19-2191139-C-G c.393C>G p.F131L Missense 5/28 - 1
19-2191139-C-T c.393C>T p.F131= Synonymous 5/28 - 1
19-2191141-C-T c.395C>T p.S132F Missense 5/28 - 1
19-2191142-C-T c.396C>T p.S132= Synonymous 5/28 - 1
19-2191143-C-T c.397C>T p.P133S Missense 5/28 - 1
19-2191145-C-G c.399C>G p.P133= Synonymous 5/28 - 1
19-2191145-C-T c.399C>T p.P133= Synonymous 5/28 - 1
19-2191146-G-A c.400G>A p.E134K Missense 5/28 - 1
19-2191146-G-T c.400G>T p.E134* Nonsense 5/28 - 1
19-2191147-A-C c.401A>C p.E134A Missense 5/28 - 1
19-2191147-A-T c.401A>T p.E134V Missense 5/28 - 2
19-2191154-C-T c.408C>T p.Y136= Synonymous 5/28 - 3
19-2191155-G-A c.409G>A p.G137R Missense 5/28 - 5
19-2191155-G-C c.409G>C p.G137R Missense 5/28 - 3
19-2191155-G-T c.409G>T p.G137W Missense 5/28 - 1
19-2191156-G-T c.410G>T p.G137V Missense 5/28 - 1
19-2191160-G-C c.414G>C p.E138D Missense 5/28 - 1
19-2191160-G-T c.414G>T p.E138D Missense 5/28 - 2
19-2191164-T-C c.418T>C p.S140P Missense 5/28 - 1
19-2191165-C-T c.419C>T p.S140F Missense 5/28 - 4
19-2191166-C-A c.420C>A p.S140= Synonymous 5/28 - 1
19-2191166-C-G c.420C>G p.S140= Synonymous 5/28 - 1
19-2191166-C-T c.420C>T p.S140= Synonymous 5/28 - 1
19-2191169-C-T c.423C>T p.F141= Synonymous 5/28 - 1
19-2191176-G-A c.430G>A p.V144M Missense 5/28 - 1
19-2191178-G-C c.432G>C p.V144= Synonymous 5/28 - 1
19-2191178-G-T c.432G>T p.V144= Synonymous 5/28 - 2
19-2191179-G-T c.433G>T p.A145S Missense 5/28 - 1
19-2191180-C-T c.434C>T p.A145V Missense 5/28 - 2
19-2191185-A-G c.439A>G p.M147V Missense 5/28 - 2
19-2191187-G-T c.441G>T p.M147I Missense 5/28 - 1
19-2191188-A-C c.442A>C p.I148L Missense 5/28 - 1
19-2191193-T-A c.447T>A p.D149E Missense 5/28 - 1
19-2191193-T-G c.447T>G p.D149E Missense 5/28 - 1
19-2191194-G-A c.448G>A p.E150K Missense 5/28 - 1
19-2191199-CA-C c.455del p.K152Rfs*2 Frameshift 5/28 - 3
19-2191203-A-G c.457A>G p.M153V Missense 5/28 - 2
19-2191207-C-T c.461C>T p.T154I Missense 5/28 - 1
19-2191208-C-A c.462C>A p.T154= Synonymous 5/28 - 1
19-2191208-C-G c.462C>G p.T154= Synonymous 5/28 - 1
19-2191208-C-T c.462C>T p.T154= Synonymous 5/28 - 1
19-2191209-G-A c.463G>A p.D155N Missense 5/28 - 2
19-2191211-C-T c.465C>T p.D155= Synonymous 5/28 - 4
19-2191212-G-A c.466G>A p.D156N Missense 5/28 - 3
19-2191213-A-G c.467A>G p.D156G Missense 5/28 - 1
19-2191214-C-T c.468C>T p.D156= Synonymous 5/28 - 2
19-2191215-G-A c.469G>A p.D157N Missense 5/28 - 3
19-2191218-C-T c.472C>T p.L158= Synonymous 5/28 - 1
19-2191220-G-A c.474G>A p.L158= Synonymous 5/28 - 1
19-2191220-G-C c.474G>C p.L158= Synonymous 5/28 - 1
19-2191220-G-T c.474G>T p.L158= Synonymous 5/28 - 2
19-2191224-G-A c.478G>A p.V160M Missense 5/28 - 1
19-2191224-G-C c.478G>C p.V160L Missense 5/28 - 1
19-2191224-G-T c.478G>T p.V160L Missense 5/28 - 1
19-2191227-G-T c.481G>T p.D161Y Missense 5/28 - 1
19-2191229-C-T c.483C>T p.D161= Synonymous 5/28 - 1
19-2191232-G-A c.486G>A p.L162= Synonymous 5/28 - 1
19-2191232-G-T c.486G>T p.L162F Missense 5/28 - 1
19-2191233-G-A c.487G>A p.G163R Missense 5/28 - 4
19-2191233-G-C c.487G>C p.G163R Missense 5/28 - 4
19-2191233-G-T c.487G>T p.G163W Missense 5/28 - 1
19-2191234-G-T c.488G>T p.G163V Missense 5/28 - 1
19-2191235-G-A c.489G>A p.G163= Synonymous 5/28 - 1
19-2191236-A-T c.490A>T p.S164C Missense 5/28 - 1
19-2191238-C-T c.492C>T p.S164= Synonymous 5/28 - 1
19-2191239-G-A c.493G>A p.G165S Missense 5/28 - 1
19-2191239-G-C c.493G>C p.G165R Missense 5/28 - 5
19-2191239-G-T c.493G>T p.G165C Missense 5/28 - 4
19-2191240-G-T c.493+1G>T - IntronicSNV - 5/27 2
19-2191685-G-A c.493+446G>A - IntronicSNV - 5/27 1
19-2193653-G-A c.494-35G>A - IntronicSNV - 5/27 1
19-2193653-G-T c.494-35G>T - IntronicSNV - 5/27 1
19-2193688-G-T c.494G>T p.G165V Missense 6/28 - 2
19-2193690-G-A c.496G>A p.V166M Missense 6/28 - 2
19-2193690-G-T c.496G>T p.V166L Missense 6/28 - 1
19-2193692-G-A c.498G>A p.V166= Synonymous 6/28 - 1
19-2193696-C-T c.502C>T p.Q168* Nonsense 6/28 - 2
19-2193702-G-T c.508G>T p.V170L Missense 6/28 - 2
19-2193704-G-A c.510G>A p.V170= Synonymous 6/28 - 1
19-2193711-G-C c.517G>C p.V173L Missense 6/28 - 1
19-2193714-G-A c.520G>A p.A174T Missense 6/28 - 1
19-2193717-G-A c.523G>A p.A175T Missense 6/28 - 1
19-2193718-C-T c.524C>T p.A175V Missense 6/28 - 1
19-2193722-C-A c.528C>A p.A176= Synonymous 6/28 - 2
19-2193725-C-A c.531C>A p.T177= Synonymous 6/28 - 1
19-2193725-C-G c.531C>G p.T177= Synonymous 6/28 - 1
19-2193725-C-T c.531C>T p.T177= Synonymous 6/28 - 1
19-2193728-C-T c.534C>T p.N178= Synonymous 6/28 - 1
19-2193729-TG-GC c.535_536delinsGC p.C179A Missense 6/28 - 1
19-2193731-C-T c.537C>T p.C179= Synonymous 6/28 - 1
19-2193735-C-T c.541C>T p.H181Y Missense 6/28 - 1
19-2193736-A-C c.542A>C p.H181P Missense 6/28 - 1
19-2193744-G-T c.550G>T p.G184C Missense 6/28 - 1
19-2193746-C-T c.552C>T p.G184= Synonymous 6/28 - 1
19-2193747-G-A c.553G>A p.V185I Missense 6/28 - 1
19-2193750-G-C c.556G>C p.E186Q Missense 6/28 - 1
19-2193750-G-T c.556G>T p.E186* Nonsense 6/28 - 1
19-2193751-A-C c.557A>C p.E186A Missense 6/28 - 1
19-2193753-A-G c.559A>G p.K187E Missense 6/28 - 1
19-2193756-G-A c.562G>A p.A188T Missense 6/28 - 1
19-2193759-G-T c.565G>T p.D189Y Missense 6/28 - 1
19-2193764-C-G c.570C>G p.I190M Missense 6/28 - 1
19-2193765-C-A c.571C>A p.P191T Missense 6/28 - 1
19-2193765-C-G c.571C>G p.P191A Missense 6/28 - 1
19-2193766-C-T c.572C>T p.P191L Missense 6/28 - 1
19-2193771-A-G c.577A>G p.K193E Missense 6/28 - 2
19-2193773-G-C c.579G>C p.K193N Missense 6/28 - 1
19-2193773-G-T c.579G>T p.K193N Missense 6/28 - 1
19-2193777-G-A c.583G>A p.A195T Missense 6/28 - 1
19-2193777-G-T c.583G>T p.A195S Missense 6/28 - 1
19-2193778-C-T c.584C>T p.A195V Missense 6/28 - 2
19-2193779-G-A c.585G>A p.A195= Synonymous 6/28 - 1
19-2193780-G-A c.586G>A p.E196K Missense 6/28 - 1
19-2193782-G-C c.588G>C p.E196D Missense 6/28 - 1
19-2193782-G-T c.588G>T p.E196D Missense 6/28 - 1
19-2193789-G-A c.588+7G>A - IntronicSNV - 6/27 1
19-2193813-G-A c.588+31G>A - IntronicSNV - 6/27 1
19-2194437-C-A c.589-77C>A - IntronicSNV - 6/27 1
19-2194437-C-T c.589-77C>T - IntronicSNV - 6/27 1
19-2194489-G-A c.589-25G>A - IntronicSNV - 6/27 3
19-2194489-G-C c.589-25G>C - IntronicSNV - 6/27 3
19-2194520-G-A c.595G>A p.D199N Missense 7/28 - 1
19-2194523-C-G c.598C>G p.R200G Missense 7/28 - 1
19-2194524-GC-AA c.599_600delinsAA p.R200Q Missense 7/28 - 1
19-2194526-G-A c.601G>A p.E201K Missense 7/28 - 2
19-2194531-C-CT c.606_607insT p.R203* Nonsense 7/28 - 1
19-2194531-C-T c.606C>T p.F202= Synonymous 7/28 - 1
19-2194532-A-G c.607A>G p.R203G Missense 7/28 - 1
19-2194536-A-G c.611A>G p.K204R Missense 7/28 - 1
19-2194543-G-A c.618G>A p.M206I Missense 7/28 - 4
19-2194543-G-C c.618G>C p.M206I Missense 7/28 - 4
19-2194543-G-T c.618G>T p.M206I Missense 7/28 - 4
19-2194548-G-A c.623G>A p.W208* Nonsense 7/28 - 1
19-2194548-G-T c.623G>T p.W208L Missense 7/28 - 1
19-2194549-G-A c.624G>A p.W208* Nonsense 7/28 - 2
19-2194549-G-C c.624G>C p.W208C Missense 7/28 - 1
19-2194549-G-T c.624G>T p.W208C Missense 7/28 - 2
19-2194554-G-A c.629G>A p.G210E Missense 7/28 - 1
19-2194556-A-G c.631A>G p.K211E Missense 7/28 - 1
19-2194561-G-A c.636G>A p.K212= Synonymous 7/28 - 1
19-2194564-T-C c.639T>C p.H213= Synonymous 7/28 - 1
19-2194566-GC-G c.641del p.A214Efs*27 Frameshift 7/28 - 1
19-2194568-G-A c.643G>A p.E215K Missense 7/28 - 1
19-2194577-AG-A c.651+1del - IntronicDeletion - 7/27 1
19-2194588-C-T c.651+12C>T - IntronicSNV - 7/27 1
19-2194593-C-T c.651+17C>T - IntronicSNV - 7/27 1
19-2194603-C-G c.651+27C>G - IntronicSNV - 7/27 1
19-2194603-C-T c.651+27C>T - IntronicSNV - 7/27 1
19-2194624-G-C c.651+48G>C - IntronicSNV - 7/27 1
19-2194657-C-G c.651+81C>G - IntronicSNV - 7/27 4
19-2194657-C-T c.651+81C>T - IntronicSNV - 7/27 5
19-2194660-2194661---TGTTGGCACATGGC c.651+98_651+111dup - intron_variant - 7/27 3
19-2194687-G-GC c.651+111_651+112insC - IntronicInsertion - 7/27 1
19-2194692-C-G c.651+116C>G - IntronicSNV - 7/27 1
19-2194694-C-A c.651+118C>A - IntronicSNV - 7/27 1
19-2194696-C-A c.651+120C>A - IntronicSNV - 7/27 1
19-2194700-A-T c.651+124A>T - IntronicSNV - 7/27 1
19-2194703-C-G c.651+127C>G - IntronicSNV - 7/27 1
19-2194707-T-C c.651+131T>C - IntronicSNV - 7/27 1
19-2194769-A-G c.651+193A>G - IntronicSNV - 7/27 1
19-2194896-T-C c.651+320T>C - IntronicSNV - 7/27 9
19-2196331-AT-A c.651+1763del - IntronicDeletion - 7/27 1
19-2197982-C-T c.652-1901C>T - IntronicSNV - 7/27 1
19-2199576-C-T c.652-307C>T - IntronicSNV - 7/27 1
19-2199814-C-T c.652-69C>T - IntronicSNV - 7/27 2
19-2199856-C-A c.652-27C>A - IntronicSNV - 7/27 1
19-2199856-C-T c.652-27C>T - IntronicSNV - 7/27 1
19-2199883-T-C c.652T>C p.L218= Synonymous 8/28 - 2
19-2199885-G-A c.654G>A p.L218= Synonymous 8/28 - 3
19-2199889-A-C c.658A>C p.R220= Synonymous 8/28 - 1
19-2199894-C-A c.663C>A p.G221= Synonymous 8/28 - 1
19-2199894-C-G c.663C>G p.G221= Synonymous 8/28 - 1
19-2199894-C-T c.663C>T p.G221= Synonymous 8/28 - 1
19-2199895-G-A c.664G>A p.D222N Missense 8/28 - 1
19-2199897-T-A c.666T>A p.D222E Missense 8/28 - 1
19-2199899-T-C c.668T>C p.F223S Missense 8/28 - 1
19-2199900-C-T c.669C>T p.F223= Synonymous 8/28 - 2
19-2199904-T-A c.673T>A p.S225T Missense 8/28 - 1
19-2199905-C-A c.674C>A p.S225* Nonsense 8/28 - 1
19-2199905-C-G c.674C>G p.S225* Nonsense 8/28 - 3
19-2199905-C-T c.674C>T p.S225L Missense 8/28 - 8
19-2199909-A-AT c.678_679insT p.E227* Nonsense 8/28 - 1
19-2199909-A-G c.678A>G p.E226= Synonymous 8/28 - 1
19-2199910-G-A c.679G>A p.E227K Missense 8/28 - 2
19-2199914-G-T c.683G>T p.W228L Missense 8/28 - 2
19-2199915-G-A c.684G>A p.W228* Nonsense 8/28 - 1
19-2199916-AGG-TGT c.685_687delinsTGT p.R229C Missense 8/28 - 1
19-2199916-A-C c.685A>C p.R229= Synonymous 8/28 - 2
19-2199918-G-A c.687G>A p.R229= Synonymous 8/28 - 3
19-2199921-G-A c.690G>A p.E230= Synonymous 8/28 - 1
19-2199922-CGA-TGG c.691_693delinsTGG p.R231W Missense 8/28 - 1
19-2199922-C-T c.691C>T p.R231* Nonsense 8/28 - 4
19-2199923-G-A c.692G>A p.R231Q Missense 8/28 - 1
19-2199923-G-T c.692G>T p.R231L Missense 8/28 - 2
19-2199928-G-A c.697G>A p.A233T Missense 8/28 - 1
19-2199929-C-T c.698C>T p.A233V Missense 8/28 - 1
19-2199932-A-C c.701A>C p.N234T Missense 8/28 - 1
19-2199933-C-T c.702C>T p.N234= Synonymous 8/28 - 1
19-2199934-A-G c.703A>G p.T235A Missense 8/28 - 2
19-2199936-G-A c.705G>A p.T235= Synonymous 8/28 - 2
19-2199936-G-C c.705G>C p.T235= Synonymous 8/28 - 1
19-2199936-G-T c.705G>T p.T235= Synonymous 8/28 - 1
19-2199938-G-C c.707G>C p.S236T Missense 8/28 - 1
19-2199939-G-A c.707+1G>A - IntronicSNV - 8/27 1
19-2199949-C-T c.707+11C>T - IntronicSNV - 8/27 1
19-2200112-C-T c.707+174C>T - IntronicSNV - 8/27 1
19-2201186-C-G c.707+1248C>G - IntronicSNV - 8/27 1
19-2202699-T-C c.708T>C p.S236= Synonymous 9/28 - 1
19-2202701-T-C c.710T>C p.V237A Missense 9/28 - 1
19-2202709-G-A c.718G>A p.V240M Missense 9/28 - 2
19-2202709-GTG-ATC c.718_720delinsATC p.V240I Missense 9/28 - 1
19-2202712-AA-GC c.721_722delinsGC p.N241A Missense 9/28 - 4
19-2202712-A-G c.721A>G p.N241D Missense 9/28 - 1
19-2202713-A-C c.722A>C p.N241T Missense 9/28 - 1
19-2202714-T-A c.723T>A p.N241K Missense 9/28 - 1
19-2202717-T-A c.726T>A p.N242K Missense 9/28 - 2
19-2202718-T-C c.727T>C p.F243L Missense 9/28 - 1
19-2202718-TT-GC c.727_728delinsGC p.F243A Missense 9/28 - 1
19-2202719-T-G c.728T>G p.F243C Missense 9/28 - 3
19-2202716-A-AT c.729dup p.A244Cfs*5 Frameshift 9/28 - 1
19-2202723-C-A c.732C>A p.A244= Synonymous 9/28 - 1
19-2202724-T-C c.733T>C p.F245L Missense 9/28 - 1
19-2202726-T-A c.735T>A p.F245L Missense 9/28 - 1
19-2202726-T-G c.735T>G p.F245L Missense 9/28 - 1
19-2202725-T-G c.734T>G p.F245C Missense 9/28 - 3
19-2202727-G-A c.736G>A p.G246S Missense 9/28 - 9
19-2202728-G-C c.737G>C p.G246A Missense 9/28 - 1
19-2202729-T-A c.738T>A p.G246= Synonymous 9/28 - 1
19-2202730-C-G c.739C>G p.P247A Missense 9/28 - 1
19-2202730-C-T c.739C>T p.P247S Missense 9/28 - 1
19-2202731-C-G c.740C>G p.P247R Missense 9/28 - 1
19-2202731-C-T c.740C>T p.P247L Missense 9/28 - 1
19-2202735-G-A c.744G>A p.E248= Synonymous 9/28 - 1
19-2202735-G-C c.744G>C p.E248D Missense 9/28 - 1
19-2202735-G-T c.744G>T p.E248D Missense 9/28 - 1
19-2202736-G-C c.745G>C p.V249L Missense 9/28 - 2
19-2202736-G-T c.745G>T p.V249L Missense 9/28 - 2
19-2202738-G-A c.747G>A p.V249= Synonymous 9/28 - 1
19-2202739-G-A c.748G>A p.D250N Missense 9/28 - 3
19-2202740-A-T c.749A>T p.D250V Missense 9/28 - 1
19-2202741-T-G c.750T>G p.D250E Missense 9/28 - 1
19-2202744-C-G c.753C>G p.H251Q Missense 9/28 - 1
19-2202745-C-G c.754C>G p.Q252E Missense 9/28 - 1
19-2202745-C-T c.754C>T p.Q252* Nonsense 9/28 - 2
19-2202747-G-A c.756G>A p.Q252= Synonymous 9/28 - 1
19-2202748-C-A c.757C>A p.L253M Missense 9/28 - 1
19-2202748-C-G c.757C>G p.L253V Missense 9/28 - 1
19-2202753-G-A c.762G>A p.K254= Synonymous 9/28 - 1
19-2202754-G-A c.763G>A p.E255K Missense 9/28 - 1
19-2202757-CG-TA c.766_767delinsTA p.R256* Nonsense 9/28 - 1
19-2202757-C-T c.766C>T p.R256W Missense 9/28 - 5
19-2202759-G-T c.768G>T p.R256= Synonymous 9/28 - 1
19-2202760-T-C c.769T>C p.F257L Missense 9/28 - 1
19-2202762-T-A c.771T>A p.F257L Missense 9/28 - 1
19-2202762-T-G c.771T>G p.F257L Missense 9/28 - 1
19-2202770-T-A c.779T>A p.M260K Missense 9/28 - 1
19-2202773-AG-A c.784del p.E262Kfs*14 Frameshift 9/28 - 1
19-2202775-G-A c.784G>A p.E262K Missense 9/28 - 1
19-2202775-G-T c.784G>T p.E262* Nonsense 9/28 - 1
19-2202778-G-A c.787G>A p.G263S Missense 9/28 - 2
19-2202790-T-A c.787+12T>A - IntronicSNV - 9/27 1
19-2202992-C-T c.787+214C>T - IntronicSNV - 9/27 1
19-2204352-T-C c.787+1574T>C - IntronicSNV - 9/27 1
19-2204356-T-C c.787+1578T>C - IntronicSNV - 9/27 1
19-2204355-CTG-C c.787+1590_787+1591del - IntronicDeletion - 9/27 1
19-2204370-C-T c.787+1592C>T - IntronicSNV - 9/27 2
19-2204676-G-T c.787+1898G>T - IntronicSNV - 9/27 1
19-2206163-G-A c.788-565G>A - IntronicSNV - 9/27 1
19-2206575-G-T c.788-153G>T - IntronicSNV - 9/27 3
19-2206733-A-G c.793A>G p.R265G Missense 10/28 - 1
19-2206733-AG-CT c.793_794inv p.R265L Missense 10/28 - 1
19-2206734-G-A c.794G>A p.R265K Missense 10/28 - 2
19-2206738-C-A c.798C>A p.I266= Synonymous 10/28 - 3
19-2206738-C-T c.798C>T p.I266= Synonymous 10/28 - 4
19-2206739-G-A c.799G>A p.V267M Missense 10/28 - 2
19-2206739-G-C c.799G>C p.V267L Missense 10/28 - 1
19-2206739-G-T c.799G>T p.V267L Missense 10/28 - 1
19-2206744-C-A c.804C>A p.S268= Synonymous 10/28 - 1
19-2206746-C-T c.806C>T p.S269L Missense 10/28 - 1
19-2206747-CGA-C c.807_808del p.K270Tfs*12 Frameshift 10/28 - 1
19-2206752-C-T c.812C>T p.P271L Missense 10/28 - 2
19-2206753-C-A c.813C>A p.P271= Synonymous 10/28 - 1
19-2206753-C-G c.813C>G p.P271= Synonymous 10/28 - 1
19-2206753-C-T c.813C>T p.P271= Synonymous 10/28 - 2
19-2206756-T-A c.816T>A p.F272L Missense 10/28 - 1
19-2206756-T-C c.816T>C p.F272= Synonymous 10/28 - 1
19-2206758-C-A c.818C>A p.A273E Missense 10/28 - 1
19-2206758-C-T c.818C>T p.A273V Missense 10/28 - 1
19-2206760-C-T c.820C>T p.P274S Missense 10/28 - 1
19-2206761-C-A c.821C>A p.P274H Missense 10/28 - 1
19-2206767-A-C c.827A>C p.N276T Missense 10/28 - 2
19-2206768-C-T c.828C>T p.N276= Synonymous 10/28 - 1
19-2206769-T-C c.829T>C p.F277L Missense 10/28 - 1
19-2206771-C-A c.831C>A p.F277L Missense 10/28 - 1
19-2206771-C-G c.831C>G p.F277L Missense 10/28 - 1
19-2206772-AGA-CAT c.832_834delinsCAT p.R278H Missense 10/28 - 1
19-2206772-AG-GA c.832_833delinsGA p.R278E Missense 10/28 - 2
19-2206772-AG-GC c.832_833delinsGC p.R278A Missense 10/28 - 1
19-2206774-A-T c.834A>T p.R278S Missense 10/28 - 1
19-2206778-AA-GC c.838_839delinsGC p.N280A Missense 10/28 - 1
19-2206778-A-C c.838A>C p.N280H Missense 10/28 - 3
19-2206783-T-C c.843T>C p.S281= Synonymous 10/28 - 1
19-2206784-AGA-TGG c.844_846delinsTGG p.R282W Missense 10/28 - 3
19-2206784-AGA-TGT c.844_846delinsTGT p.R282C Missense 10/28 - 1
19-2206784-AG-GA c.844_845delinsGA p.R282E Missense 10/28 - 2
19-2206784-AG-GC c.844_845delinsGC p.R282A Missense 10/28 - 3
19-2206785-G-A c.845G>A p.R282K Missense 10/28 - 1
19-2206787-AAC-GAG c.847_849delinsGAG p.N283E Missense 10/28 - 1
19-2206787-A-G c.847A>G p.N283D Missense 10/28 - 1
19-2206790-T-C c.850T>C p.L284= Synonymous 10/28 - 1
19-2206790-TT-GC c.850_851delinsGC p.L284A Missense 10/28 - 1
19-2206792-G-A c.852G>A p.L284= Synonymous 10/28 - 1
19-2206791-T-G c.851T>G p.L284W Missense 10/28 - 1
19-2206792-G-C c.852G>C p.L284F Missense 10/28 - 2
19-2206793-AG-CC c.853_854delinsCC p.S285P Missense 10/28 - 1
19-2206794-G-A c.854G>A p.S285N Missense 10/28 - 1
19-2206795-T-G c.855T>G p.S285R Missense 10/28 - 1
19-2206797-G-A c.856+1G>A - IntronicSNV - 10/27 1
19-2207005-C-T c.856+209C>T - IntronicSNV - 10/27 1
19-2207041-A-G c.856+245A>G - IntronicSNV - 10/27 1
19-2207452-G-A c.857-121G>A - IntronicSNV - 10/27 1
19-2207549-C-T c.857-24C>T - IntronicSNV - 10/27 5
19-2207577-C-A c.861C>A p.I287= Synonymous 11/28 - 1
19-2207577-C-T c.861C>T p.I287= Synonymous 11/28 - 1
19-2207578-G-C c.862G>C p.G288R Missense 11/28 - 1
19-2207579-G-A c.863G>A p.G288D Missense 11/28 - 1
19-2207581-A-G c.865A>G p.T289A Missense 11/28 - 1
19-2207584-A-G c.868A>G p.I290V Missense 11/28 - 2
19-2207584-AT-GC c.868_869delinsGC p.I290A Missense 11/28 - 2
19-2207584-A-AT c.869dup p.M291Hfs*33 Frameshift 11/28 - 1
19-2207589-G-A c.873G>A p.M291I Missense 11/28 - 1
19-2207589-G-C c.873G>C p.M291I Missense 11/28 - 1
19-2207589-G-T c.873G>T p.M291I Missense 11/28 - 1
19-2207590-C-T c.874C>T p.R292C Missense 11/28 - 4
19-2207591-GC-AA c.875_876delinsAA p.R292Q Missense 11/28 - 1
19-2207593-G-A c.877G>A p.V293M Missense 11/28 - 1
19-2207600-A-C c.884A>C p.E295A Missense 11/28 - 1
19-2207602-C-G c.886C>G p.L296V Missense 11/28 - 1
19-2207604-C-A c.888C>A p.L296= Synonymous 11/28 - 2
19-2207604-C-G c.888C>G p.L296= Synonymous 11/28 - 2
19-2207604-C-T c.888C>T p.L296= Synonymous 11/28 - 3
19-2207605-T-G c.889T>G p.S297A Missense 11/28 - 1
19-2207606-C-T c.890C>T p.S297L Missense 11/28 - 2
19-2207608-C-T c.892C>T p.P298S Missense 11/28 - 2
19-2207612-T-G c.896T>G p.L299R Missense 11/28 - 1
19-2207618-G-C c.902G>C p.G301A Missense 11/28 - 1
19-2207621-C-T c.905C>T p.S302L Missense 11/28 - 2
19-2207622-G-A c.906G>A p.S302= Synonymous 11/28 - 2
19-2207622-G-C c.906G>C p.S302= Synonymous 11/28 - 2
19-2207622-G-T c.906G>T p.S302= Synonymous 11/28 - 2
19-2207621-CGGT-C c.907_909del p.V303del InFrameDeletion 11/28 - 1
19-2207623-G-A c.907G>A p.V303M Missense 11/28 - 1
19-2207627-CG-TT c.911_912delinsTT p.S304F Missense 11/28 - 2
19-2207627-C-T c.911C>T p.S304L Missense 11/28 - 1
19-2207629-T-G c.913T>G p.W305G Missense 11/28 - 1
19-2207630-G-T c.914G>T p.W305L Missense 11/28 - 1
19-2207631-G-T c.915G>T p.W305C Missense 11/28 - 2
19-2207632-A-G c.916A>G p.T306A Missense 11/28 - 1
19-2207633-C-G c.917C>G p.T306R Missense 11/28 - 2
19-2207633-CG-TC c.917_918delinsTC p.T306I Missense 11/28 - 1
19-2207633-C-T c.917C>T p.T306M Missense 11/28 - 2
19-2207635-G-A c.919G>A p.G307R Missense 11/28 - 1
19-2207636-G-T c.920G>T p.G307V Missense 11/28 - 2
19-2207637-G-GT c.921_922insT p.K308* Nonsense 11/28 - 2
19-2207644-G-C c.928G>C p.V310L Missense 11/28 - 1
19-2207648-C-T c.932C>T p.S311F Missense 11/28 - 1
19-2207649-C-T c.933C>T p.S311= Synonymous 11/28 - 1
19-2207651-A-T c.935A>T p.Y312F Missense 11/28 - 1
19-2207657-T-A c.941T>A p.L314Q Missense 11/28 - 1
19-2207665-A-G c.949A>G p.I317V Missense 11/28 - 1
19-2207667-C-A c.951C>A p.I317= Synonymous 11/28 - 2
19-2207667-C-T c.951C>T p.I317= Synonymous 11/28 - 2
19-2207668-G-A c.952G>A p.D318N Missense 11/28 - 2
19-2207668-G-T c.952G>T p.D318Y Missense 11/28 - 2
19-2207669-A-C c.953A>C p.D318A Missense 11/28 - 1
19-2207671-C-T c.955C>T p.R319C Missense 11/28 - 1
19-2207672-G-A c.956G>A p.R319H Missense 11/28 - 5
19-2207676-C-A c.960C>A p.T320= Synonymous 11/28 - 1
19-2207676-C-G c.960C>G p.T320= Synonymous 11/28 - 1
19-2207676-C-T c.960C>T p.T320= Synonymous 11/28 - 1
19-2207685-T-C c.963+6T>C - IntronicSNV - 11/27 1
19-2207701-A-G c.963+22A>G - IntronicSNV - 11/27 1
19-2207701-A-T c.963+22A>T - IntronicSNV - 11/27 1
19-2207735-A-G c.963+56A>G - IntronicSNV - 11/27 1
19-2208859-T-C c.964-75T>C - IntronicSNV - 11/27 7
19-2208934-CT-GA c.964_965delinsGA p.L322D Missense 12/28 - 1
19-2208934-CT-GC c.964_965delinsGC p.L322A Missense 12/28 - 1
19-2208934-CTT-GAG c.964_966delinsGAG p.L322E Missense 12/28 - 1
19-2208937-G-A c.967G>A p.E323K Missense 12/28 - 1
19-2208937-G-C c.967G>C p.E323Q Missense 12/28 - 1
19-2208938-A-C c.968A>C p.E323A Missense 12/28 - 1
19-2208940-AA-TG c.970_971delinsTG p.N324C Missense 12/28 - 1
19-2208943-T-A c.973T>A p.Y325N Missense 12/28 - 2
19-2208946-TT-GC c.976_977delinsGC p.F326A Missense 12/28 - 4
19-2208949-TC-AT c.979_980delinsAT p.S327I Missense 12/28 - 1
19-2208949-T-G c.979T>G p.S327A Missense 12/28 - 1
19-2208955-CT-GC c.985_986delinsGC p.L329A Missense 12/28 - 1
19-2208956-T-C c.986T>C p.L329P Missense 12/28 - 1
19-2208958-AA-GC c.988_989delinsGC p.K330A Missense 12/28 - 1
19-2208960-A-G c.990A>G p.K330= Synonymous 12/28 - 1
19-2208957-G-GA c.992dup p.N331Kfs*28 Frameshift 12/28 - 1
19-2208962-A-C c.992A>C p.N331T Missense 12/28 - 1
19-2208963-C-T c.993C>T p.N331= Synonymous 12/28 - 1
19-2208965-C-T c.995C>T p.P332L Missense 12/28 - 1
19-2208967-A-G c.997A>G p.K333E Missense 12/28 - 1
19-2208972-C-A c.1002C>A p.L334= Synonymous 12/28 - 1
19-2208972-C-G c.1002C>G p.L334= Synonymous 12/28 - 1
19-2208972-C-T c.1002C>T p.L334= Synonymous 12/28 - 3
19-2208973-A-T c.1003A>T p.R335W Missense 12/28 - 1
19-2208974-G-A c.1004G>A p.R335K Missense 12/28 - 1
19-2208975-G-C c.1005G>C p.R335S Missense 12/28 - 1
19-2208975-G-T c.1005G>T p.R335S Missense 12/28 - 1
19-2208995-C-G c.1005+20C>G - IntronicSNV - 12/27 1
19-2209043-G-A c.1005+68G>A - IntronicSNV - 12/27 1
19-2209647-C-T c.1005+672C>T - IntronicSNV - 12/27 1
19-2210269-C-T c.1006-130C>T - IntronicSNV - 12/27 1
19-2210352-G-A c.1006-47G>A - IntronicSNV - 12/27 1
19-2210399-G-A c.1006G>A p.E336K Missense 13/28 - 1
19-2210404-A-G c.1011A>G p.E337= Synonymous 13/28 - 1
19-2210405-C-T c.1012C>T p.Q338* Nonsense 13/28 - 1
19-2210407-G-A c.1014G>A p.Q338= Synonymous 13/28 - 1
19-2210411-G-A c.1018G>A p.A340T Missense 13/28 - 2
19-2210415-C-T c.1022C>T p.A341V Missense 13/28 - 1
19-2210417-CG-TA c.1024_1025delinsTA p.R342* Nonsense 13/28 - 1
19-2210417-C-T c.1024C>T p.R342W Missense 13/28 - 1
19-2210418-G-A c.1025G>A p.R342Q Missense 13/28 - 2
19-2210419-G-A c.1026G>A p.R342= Synonymous 13/28 - 1
19-2210420-C-T c.1027C>T p.R343C Missense 13/28 - 2
19-2210421-G-A c.1028G>A p.R343H Missense 13/28 - 1
19-2210421-G-T c.1028G>T p.R343L Missense 13/28 - 1
19-2210424-G-A c.1031G>A p.R344H Missense 13/28 - 1
19-2210426-C-A c.1033C>A p.Q345K Missense 13/28 - 1
19-2210426-C-T c.1033C>T p.Q345* Nonsense 13/28 - 2
19-2210427-A-G c.1034A>G p.Q345R Missense 13/28 - 1
19-2210429-C-T c.1036C>T p.Q346* Nonsense 13/28 - 1
19-2210432-C-T c.1039C>T p.R347C Missense 13/28 - 1
19-2210433-G-A c.1040G>A p.R347H Missense 13/28 - 3
19-2210434-C-G c.1041C>G p.R347= Synonymous 13/28 - 1
19-2210434-C-T c.1041C>T p.R347= Synonymous 13/28 - 1
19-2210435-G-A c.1042G>A p.E348K Missense 13/28 - 1
19-2210435-G-C c.1042G>C p.E348Q Missense 13/28 - 1
19-2210435-G-T c.1042G>T p.E348* Nonsense 13/28 - 1
19-2210436-A-C c.1043A>C p.E348A Missense 13/28 - 2
19-2210438-A-G c.1045A>G p.S349G Missense 13/28 - 1
19-2210439-G-A c.1046G>A p.S349N Missense 13/28 - 1
19-2210440-C-T c.1047C>T p.S349= Synonymous 13/28 - 1
19-2210445-G-A c.1052G>A p.S351N Missense 13/28 - 1
19-2210449-C-G c.1056C>G p.N352K Missense 13/28 - 1
19-2210450-G-A c.1057G>A p.A353T Missense 13/28 - 3
19-2210451-C-G c.1058C>G p.A353G Missense 13/28 - 7
19-2210451-C-T c.1058C>T p.A353V Missense 13/28 - 1
19-2210458-G-A c.1065G>A p.T355= Synonymous 13/28 - 1
19-2210458-G-C c.1065G>C p.T355= Synonymous 13/28 - 1
19-2210458-G-T c.1065G>T p.T355= Synonymous 13/28 - 3
19-2210462-A-G c.1069A>G p.T357A Missense 13/28 - 1
19-2210465-A-C c.1072A>C p.K358Q Missense 13/28 - 1
19-2210466-A-G c.1073A>G p.K358R Missense 13/28 - 1
19-2210473-A-C c.1080A>C p.P360= Synonymous 13/28 - 1
19-2210473-A-G c.1080A>G p.P360= Synonymous 13/28 - 1
19-2210473-A-T c.1080A>T p.P360= Synonymous 13/28 - 1
19-2210474-G-C c.1081G>C p.E361Q Missense 13/28 - 1
19-2210480-A-G c.1087A>G p.K363E Missense 13/28 - 1
19-2210487-C-T c.1094C>T p.A365V Missense 13/28 - 1
19-2210488-C-T c.1095C>T p.A365= Synonymous 13/28 - 2
19-2210489-G-T c.1096G>T p.G366C Missense 13/28 - 3
19-2210488-C-CG c.1097dup p.A368Rfs*10 Frameshift 13/28 - 1
19-2210492-C-T c.1099C>T p.P367S Missense 13/28 - 2
19-2210493-C-A c.1100C>A p.P367H Missense 13/28 - 1
19-2210493-C-T c.1100C>T p.P367L Missense 13/28 - 3
19-2210494-C-G c.1101C>G p.P367= Synonymous 13/28 - 1
19-2210494-C-T c.1101C>T p.P367= Synonymous 13/28 - 1
19-2210495-G-A c.1102G>A p.A368T Missense 13/28 - 1
19-2210497-C-A c.1104C>A p.A368= Synonymous 13/28 - 2
19-2210497-C-G c.1104C>G p.A368= Synonymous 13/28 - 2
19-2210497-C-T c.1104C>T p.A368= Synonymous 13/28 - 3
19-2210500-C-T c.1107C>T p.D369= Synonymous 13/28 - 1
19-2210501-G-A c.1108G>A p.A370T Missense 13/28 - 6
19-2210502-C-T c.1109C>T p.A370V Missense 13/28 - 1
19-2210505-C-T c.1112C>T p.P371L Missense 13/28 - 2
19-2210506-C-A c.1113C>A p.P371= Synonymous 13/28 - 1
19-2210506-C-G c.1113C>G p.P371= Synonymous 13/28 - 1
19-2210506-C-T c.1113C>T p.P371= Synonymous 13/28 - 1
19-2210621-A-T c.1118A>T p.D373V Missense 14/28 - 1
19-2210626-G-T c.1123G>T p.G375C Missense 14/28 - 2
19-2210627-G-A c.1124G>A p.G375D Missense 14/28 - 1
19-2210628-T-A c.1125T>A p.G375= Synonymous 14/28 - 1
19-2210628-T-C c.1125T>C p.G375= Synonymous 14/28 - 1
19-2210628-T-G c.1125T>G p.G375= Synonymous 14/28 - 1
19-2210631-T-A c.1128T>A p.A376= Synonymous 14/28 - 1
19-2210631-T-C c.1128T>C p.A376= Synonymous 14/28 - 1
19-2210631-T-G c.1128T>G p.A376= Synonymous 14/28 - 1
19-2210632-G-A c.1129G>A p.E377K Missense 14/28 - 2
19-2210632-G-T c.1129G>T p.E377* Nonsense 14/28 - 2
19-2210633-A-G c.1130A>G p.E377G Missense 14/28 - 1
19-2210635-G-A c.1132G>A p.E378K Missense 14/28 - 2
19-2210638-G-A c.1135G>A p.E379K Missense 14/28 - 3
19-2210640-G-A c.1137G>A p.E379= Synonymous 14/28 - 1
19-2210640-G-C c.1137G>C p.E379D Missense 14/28 - 1
19-2210641-A-G c.1138A>G p.K380E Missense 14/28 - 1
19-2210645-C-T c.1142C>T p.A381V Missense 14/28 - 1
19-2210646-G-A c.1143G>A p.A381= Synonymous 14/28 - 1
19-2210646-G-C c.1143G>C p.A381= Synonymous 14/28 - 1
19-2210646-G-T c.1143G>T p.A381= Synonymous 14/28 - 1
19-2210647-G-A c.1144G>A p.G382R Missense 14/28 - 1
19-2210647-GGA-AGC c.1144_1146delinsAGC p.G382S Missense 14/28 - 1
19-2210648-G-T c.1145G>T p.G382V Missense 14/28 - 1
19-2210650-G-A c.1147G>A p.A383T Missense 14/28 - 3
19-2210651-C-T c.1148C>T p.A383V Missense 14/28 - 2
19-2210652-A-G c.1149A>G p.A383= Synonymous 14/28 - 1
19-2210653-G-T c.1150G>T p.A384S Missense 14/28 - 3
19-2210654-C-T c.1151C>T p.A384V Missense 14/28 - 1
19-2210658-C-A c.1155C>A p.T385= Synonymous 14/28 - 2
19-2210658-C-G c.1155C>G p.T385= Synonymous 14/28 - 2
19-2210658-C-T c.1155C>T p.T385= Synonymous 14/28 - 3
19-2210659-G-A c.1156G>A p.V386M Missense 14/28 - 1
19-2210659-G-C c.1156G>C p.V386L Missense 14/28 - 1
19-2210659-G-T c.1156G>T p.V386L Missense 14/28 - 1
19-2210663-A-C c.1160A>C p.K387T Missense 14/28 - 2
19-2210664-G-A c.1161G>A p.K387= Synonymous 14/28 - 1
19-2210666-A-T c.1163A>T p.K388M Missense 14/28 - 4
19-2210668-C-A c.1165C>A p.P389T Missense 14/28 - 6
19-2210667-GC-G c.1166del p.P389Rfs*11 Frameshift 14/28 - 1
19-2210669-C-A c.1166C>A p.P389Q Missense 14/28 - 1
19-2210669-C-T c.1166C>T p.P389L Missense 14/28 - 1
19-2210677-T-G c.1174T>G p.S392A Missense 14/28 - 2
19-2210686-C-A c.1183C>A p.R395S Missense 14/28 - 1
19-2210686-C-T c.1183C>T p.R395C Missense 14/28 - 3
19-2210687-G-A c.1184G>A p.R395H Missense 14/28 - 1
19-2210687-G-T c.1184G>T p.R395L Missense 14/28 - 1
19-2210691-G-A c.1188G>A p.K396= Synonymous 14/28 - 2
19-2210697-G-A c.1194G>A p.K398= Synonymous 14/28 - 1
19-2210706-G-A c.1203G>A p.K401= Synonymous 14/28 - 1
19-2210709-G-C c.1206G>C p.K402N Missense 14/28 - 1
19-2210709-G-T c.1206G>T p.K402N Missense 14/28 - 1
19-2210713-AGG-CAT c.1210_1212delinsCAT p.R404H Missense 14/28 - 1
19-2210715-G-A c.1212G>A p.R404= Synonymous 14/28 - 3
19-2210722-G-C c.1219G>C p.A407P Missense 14/28 - 1
19-2210728-C-G c.1225C>G p.R409G Missense 14/28 - 1
19-2210728-CGC-TGG c.1225_1227delinsTGG p.R409W Missense 14/28 - 1
19-2210728-CG-TT c.1225_1226delinsTT p.R409F Missense 14/28 - 1
19-2210728-C-T c.1225C>T p.R409C Missense 14/28 - 8
19-2210729-G-A c.1226G>A p.R409H Missense 14/28 - 3
19-2210730-C-A c.1227C>A p.R409= Synonymous 14/28 - 1
19-2210732-A-T c.1229A>T p.K410M Missense 14/28 - 1
19-2210735-G-A c.1232G>A p.R411H Missense 14/28 - 3
19-2210735-G-T c.1232G>T p.R411L Missense 14/28 - 1
19-2210736-C-A c.1233C>A p.R411= Synonymous 14/28 - 1
19-2210736-C-G c.1233C>G p.R411= Synonymous 14/28 - 1
19-2210736-C-T c.1233C>T p.R411= Synonymous 14/28 - 2
19-2210737-G-A c.1234G>A p.G412R Missense 14/28 - 2
19-2210737-G-C c.1234G>C p.G412R Missense 14/28 - 2
19-2210737-GGG-AGC c.1234_1236delinsAGC p.G412S Missense 14/28 - 1
19-2210738-G-A c.1235G>A p.G412E Missense 14/28 - 2
19-2210738-G-T c.1235G>T p.G412V Missense 14/28 - 1
19-2210736-CG-C c.1236del p.R413Afs*5 Frameshift 14/28 - 2
19-2210739-G-A c.1236G>A p.G412= Synonymous 14/28 - 1
19-2210739-G-C c.1236G>C p.G412= Synonymous 14/28 - 1
19-2210739-G-T c.1236G>T p.G412= Synonymous 14/28 - 1
19-2210741-G-A c.1238G>A p.R413H Missense 14/28 - 7
19-2210746-A-T c.1243A>T p.K415* Nonsense 14/28 - 1
19-2210749-A-G c.1246A>G p.K416E Missense 14/28 - 1
19-2210752-A-G c.1249A>G p.M417V Missense 14/28 - 1
19-2210753-T-G c.1250T>G p.M417R Missense 14/28 - 3
19-2210754-G-A c.1251G>A p.M417I Missense 14/28 - 6
19-2210754-G-C c.1251G>C p.M417I Missense 14/28 - 5
19-2210754-G-T c.1251G>T p.M417I Missense 14/28 - 5
19-2210755-A-T c.1252A>T p.N418Y Missense 14/28 - 1
19-2210758-A-C c.1255A>C p.T419P Missense 14/28 - 1
19-2210762-C-T c.1259C>T p.A420V Missense 14/28 - 1
19-2210765-A-G c.1262A>G p.N421S Missense 14/28 - 1
19-2210766-C-G c.1263C>G p.N421K Missense 14/28 - 2
19-2210768-C-T c.1265C>T p.P422L Missense 14/28 - 3
19-2210770-G-A c.1267G>A p.E423K Missense 14/28 - 2
19-2210770-G-T c.1267G>T p.E423* Nonsense 14/28 - 2
19-2210772-G-C c.1269G>C p.E423D Missense 14/28 - 1
19-2210772-G-T c.1269G>T p.E423D Missense 14/28 - 1
19-2210774-G-A c.1271G>A p.R424Q Missense 14/28 - 2
19-2210775-G-A c.1272G>A p.R424= Synonymous 14/28 - 1
19-2210778-G-A c.1275G>A p.K425= Synonymous 14/28 - 5
19-2210782-A-T c.1279A>T p.K427* Nonsense 14/28 - 1
19-2210784-G-C c.1281G>C p.K427N Missense 14/28 - 1
19-2210787-G-C c.1284G>C p.K428N Missense 14/28 - 1
19-2210787-G-T c.1284G>T p.K428N Missense 14/28 - 1
19-2210790-C-T c.1287C>T p.N429= Synonymous 14/28 - 1
19-2210791-C-T c.1288C>T p.Q430* Nonsense 14/28 - 1
19-2210795-C-T c.1292C>T p.T431I Missense 14/28 - 1
19-2210796-T-A c.1293T>A p.T431= Synonymous 14/28 - 1
19-2210796-T-C c.1293T>C p.T431= Synonymous 14/28 - 1
19-2210796-T-G c.1293T>G p.T431= Synonymous 14/28 - 1
19-2210797-G-A c.1294G>A p.A432T Missense 14/28 - 1
19-2210805-T-C c.1302T>C p.D434= Synonymous 14/28 - 1
19-2210807-C-T c.1304C>T p.A435V Missense 14/28 - 3
19-2210812-C-T c.1309C>T p.H437Y Missense 14/28 - 1
19-2210814-C-T c.1311C>T p.H437= Synonymous 14/28 - 1
19-2210815-G-A c.1312G>A p.A438T Missense 14/28 - 3
19-2210818-C-G c.1315C>G p.Q439E Missense 14/28 - 1
19-2210818-C-T c.1315C>T p.Q439* Nonsense 14/28 - 3
19-2210819-A-C c.1316A>C p.Q439P Missense 14/28 - 1
19-2210820-G-C c.1317G>C p.Q439H Missense 14/28 - 1
19-2210823-C-A c.1320C>A p.T440= Synonymous 14/28 - 2
19-2210823-C-G c.1320C>G p.T440= Synonymous 14/28 - 1
19-2210823-C-T c.1320C>T p.T440= Synonymous 14/28 - 3
19-2210824-G-A c.1321G>A p.V441M Missense 14/28 - 1
19-2210830-C-G c.1327C>G p.Q443E Missense 14/28 - 2
19-2210830-C-T c.1327C>T p.Q443* Nonsense 14/28 - 1
19-2210834-C-T c.1331C>T p.T444M Missense 14/28 - 2
19-2210837-C-T c.1334C>T p.A445V Missense 14/28 - 2
19-2210838-G-A c.1335G>A p.A445= Synonymous 14/28 - 3
19-2210838-G-C c.1335G>C p.A445= Synonymous 14/28 - 2
19-2210838-G-T c.1335G>T p.A445= Synonymous 14/28 - 2
19-2210843-CC-AA c.1340_1341delinsAA p.S447* Nonsense 14/28 - 1
19-2210847-A-C c.1344A>C p.S448= Synonymous 14/28 - 5
19-2210847-A-G c.1344A>G p.S448= Synonymous 14/28 - 2
19-2210847-A-T c.1344A>T p.S448= Synonymous 14/28 - 1
19-2210851-C-T c.1348C>T p.Q450* Nonsense 14/28 - 2
19-2210853-G-C c.1350G>C p.Q450H Missense 14/28 - 1
19-2210853-G-T c.1350G>T p.Q450H Missense 14/28 - 1
19-2210854-G-A c.1351G>A p.D451N Missense 14/28 - 2
19-2210855-G-T c.1351+1G>T - IntronicSNV - 14/27 1
19-2211050-C-T c.1352-48C>T - IntronicSNV - 14/27 5
19-2211098-A-G c.1352A>G p.D451G Missense 15/28 - 3
19-2211099-T-C c.1353T>C p.D451= Synonymous 15/28 - 1
19-2211110-C-T c.1364C>T p.S455F Missense 15/28 - 4
19-2211111-C-A c.1365C>A p.S455= Synonymous 15/28 - 1
19-2211111-C-G c.1365C>G p.S455= Synonymous 15/28 - 1
19-2211111-C-T c.1365C>T p.S455= Synonymous 15/28 - 1
19-2211109-TC-T c.1367del p.P456Lfs*33 Frameshift 15/28 - 1
19-2211113-C-T c.1367C>T p.P456L Missense 15/28 - 1
19-2211117-C-T c.1371C>T p.H457= Synonymous 15/28 - 3
19-2211118-A-G c.1372A>G p.S458G Missense 15/28 - 1
19-2211121-C-T c.1375C>T p.P459S Missense 15/28 - 1
19-2211122-C-A c.1376C>A p.P459Q Missense 15/28 - 1
19-2211122-C-G c.1376C>G p.P459R Missense 15/28 - 1
19-2211123-G-A c.1377G>A p.P459= Synonymous 15/28 - 1
19-2211123-G-C c.1377G>C p.P459= Synonymous 15/28 - 1
19-2211123-G-T c.1377G>T p.P459= Synonymous 15/28 - 2
19-2211125-T-G c.1379T>G p.F460C Missense 15/28 - 1
19-2211126-C-G c.1380C>G p.F460L Missense 15/28 - 1
19-2211126-C-T c.1380C>T p.F460= Synonymous 15/28 - 1
19-2211127-T-C c.1381T>C p.Y461H Missense 15/28 - 1
19-2211133-C-T c.1387C>T p.L463= Synonymous 15/28 - 2
19-2211135-A-C c.1389A>C p.L463= Synonymous 15/28 - 2
19-2211135-A-G c.1389A>G p.L463= Synonymous 15/28 - 2
19-2211135-A-T c.1389A>T p.L463= Synonymous 15/28 - 2
19-2211140-CG-AT c.1394_1395delinsAT p.P465H Missense 15/28 - 1
19-2211140-C-T c.1394C>T p.P465L Missense 15/28 - 2
19-2211141-G-A c.1395G>A p.P465= Synonymous 15/28 - 1
19-2211141-G-C c.1395G>C p.P465= Synonymous 15/28 - 1
19-2211141-G-T c.1395G>T p.P465= Synonymous 15/28 - 2
19-2211142-A-G c.1396A>G p.S466G Missense 15/28 - 1
19-2211145-G-A c.1399G>A p.V467M Missense 15/28 - 2
19-2211146-T-C c.1400T>C p.V467A Missense 15/28 - 1
19-2211148-C-A c.1402C>A p.Q468K Missense 15/28 - 1
19-2211148-C-T c.1402C>T p.Q468* Nonsense 15/28 - 2
19-2211150-G-A c.1404G>A p.Q468= Synonymous 15/28 - 2
19-2211152-G-A c.1406G>A p.R469Q Missense 15/28 - 2
19-2211153-G-T c.1407G>T p.R469= Synonymous 15/28 - 1
19-2211159-C-A c.1413C>A p.S471= Synonymous 15/28 - 1
19-2211159-C-G c.1413C>G p.S471= Synonymous 15/28 - 1
19-2211159-C-T c.1413C>T p.S471= Synonymous 15/28 - 1
19-2211161-C-T c.1415C>T p.P472L Missense 15/28 - 1
19-2211166-C-T c.1420C>T p.P474S Missense 15/28 - 2
19-2211170-T-G c.1424T>G p.L475R Missense 15/28 - 1
19-2211175-G-T c.1429G>T p.V477L Missense 15/28 - 1
19-2211180-G-A c.1434G>A p.A478= Synonymous 15/28 - 1
19-2211180-G-C c.1434G>C p.A478= Synonymous 15/28 - 1
19-2211180-G-T c.1434G>T p.A478= Synonymous 15/28 - 1
19-2211181-C-A c.1435C>A p.P479T Missense 15/28 - 1
19-2211181-C-T c.1435C>T p.P479S Missense 15/28 - 1
19-2211182-C-T c.1436C>T p.P479L Missense 15/28 - 1
19-2211184-A-C c.1438A>C p.T480P Missense 15/28 - 3
19-2211187-C-T c.1441C>T p.P481S Missense 15/28 - 11
19-2211188-C-T c.1442C>T p.P481L Missense 15/28 - 3
19-2211189-G-A c.1443G>A p.P481= Synonymous 15/28 - 1
19-2211191-C-A c.1445C>A p.P482H Missense 15/28 - 1
19-2211192-C-A c.1446C>A p.P482= Synonymous 15/28 - 2
19-2211193-G-A c.1447G>A p.A483T Missense 15/28 - 3
19-2211194-C-T c.1448C>T p.A483V Missense 15/28 - 2
19-2211195-G-A c.1449G>A p.A483= Synonymous 15/28 - 1
19-2211195-G-C c.1449G>C p.A483= Synonymous 15/28 - 1
19-2211195-G-T c.1449G>T p.A483= Synonymous 15/28 - 1
19-2211197-T-A c.1451T>A p.L484Q Missense 15/28 - 1
19-2211206-T-C c.1460T>C p.L487P Missense 15/28 - 1
19-2211208-C-T c.1462C>T p.L488= Synonymous 15/28 - 1
19-2211212-G-A c.1465+1G>A - IntronicSNV - 15/27 1
19-2211212-G-T c.1465+1G>T - IntronicSNV - 15/27 2
19-2211221-T-C c.1465+10T>C - IntronicSNV - 15/27 1
19-2211333-T-C c.1465+122T>C - IntronicSNV - 15/27 1
19-2211709-C-T c.1466-41C>T - IntronicSNV - 15/27 1
19-2211752-T-C c.1468T>C p.S490P Missense 16/28 - 1
19-2211755-T-C c.1471T>C p.F491L Missense 16/28 - 1
19-2211757-C-A c.1473C>A p.F491L Missense 16/28 - 1
19-2211757-C-G c.1473C>G p.F491L Missense 16/28 - 1
19-2211756-T-C c.1472T>C p.F491S Missense 16/28 - 1
19-2211760-G-A c.1476G>A p.K492= Synonymous 16/28 - 1
19-2211761-A-G c.1477A>G p.I493V Missense 16/28 - 1
19-2211767-T-G c.1483T>G p.Y495D Missense 16/28 - 1
19-2211771-CT-C c.1487del p.L496Rfs*61 Frameshift 16/28 - 1
19-2211775-G-C c.1491G>C p.Q497H Missense 16/28 - 1
19-2211775-G-T c.1491G>T p.Q497H Missense 16/28 - 1
19-2211778-C-T c.1494C>T p.F498= Synonymous 16/28 - 2
19-2211779-C-T c.1495C>T p.L499= Synonymous 16/28 - 2
19-2211781-G-A c.1497G>A p.L499= Synonymous 16/28 - 2
19-2211781-G-C c.1497G>C p.L499= Synonymous 16/28 - 1
19-2211781-G-T c.1497G>T p.L499= Synonymous 16/28 - 1
19-2211782-G-A c.1498G>A p.A500T Missense 16/28 - 1
19-2211785-T-A c.1501T>A p.Y501N Missense 16/28 - 1
19-2211793-G-C c.1509G>C p.K503N Missense 16/28 - 1
19-2211793-G-T c.1509G>T p.K503N Missense 16/28 - 1
19-2211794-A-C c.1510A>C p.T504P Missense 16/28 - 1
19-2211794-A-T c.1510A>T p.T504S Missense 16/28 - 1
19-2211795-C-G c.1511C>G p.T504S Missense 16/28 - 1
19-2211795-C-T c.1511C>T p.T504I Missense 16/28 - 1
19-2211797-C-T c.1513C>T p.P505S Missense 16/28 - 1
19-2211798-C-A c.1514C>A p.P505H Missense 16/28 - 2
19-2211798-C-T c.1514C>T p.P505L Missense 16/28 - 2
19-2211794-AC-A c.1516del p.Q506Sfs*51 Frameshift 16/28 - 1
19-2211800-C-G c.1516C>G p.Q506E Missense 16/28 - 1
19-2211803-T-C c.1519T>C p.Y507H Missense 16/28 - 1
19-2211811-C-T c.1527C>T p.A509= Synonymous 16/28 - 1
19-2211812-AG-CC c.1528_1529delinsCC p.S510P Missense 16/28 - 1
19-2211812-AG-TT c.1528_1529delinsTT p.S510F Missense 16/28 - 1
19-2211820-G-C c.1536G>C p.Q512H Missense 16/28 - 1
19-2211820-G-T c.1536G>T p.Q512H Missense 16/28 - 1
19-2211821-G-A c.1537G>A p.E513K Missense 16/28 - 1
19-2211821-G-T c.1537G>T p.E513* Nonsense 16/28 - 1
19-2211828-T-C c.1544T>C p.L515P Missense 16/28 - 3
19-2211830-GGGCCAGGAGAAGGTGGGTCCTGGCCCCCTTGGCATTCCGCCTTCCCGCACAGAGGCAGT-G c.1546_1557+47del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 16/28 16/27 1
19-2211830-G-T c.1546G>T p.G516C Missense 16/28 - 1
19-2211836-G-T c.1552G>T p.E518* Nonsense 16/28 - 1
19-2211839-A-G c.1555A>G p.K519E Missense 16/28 - 1
19-2213494-T-C c.1558-44T>C - IntronicSNV - 16/27 1
19-2213497-C-T c.1558-41C>T - IntronicSNV - 16/27 1
19-2213543-G-C c.1563G>C p.K521N Missense 17/28 - 1
19-2213543-G-GT c.1563_1564insT p.N522* Nonsense 17/28 - 2
19-2213543-GA-G c.1565del p.N522Tfs*35 Frameshift 17/28 - 1
19-2213545-A-C c.1565A>C p.N522T Missense 17/28 - 1
19-2213545-A-G c.1565A>G p.N522S Missense 17/28 - 1
19-2213549-C-T c.1569C>T p.A523= Synonymous 17/28 - 1
19-2213553-C-G c.1573C>G p.L525V Missense 17/28 - 1
19-2213553-C-T c.1573C>T p.L525F Missense 17/28 - 2
19-2213555-C-A c.1575C>A p.L525= Synonymous 17/28 - 2
19-2213555-C-G c.1575C>G p.L525= Synonymous 17/28 - 2
19-2213555-C-T c.1575C>T p.L525= Synonymous 17/28 - 3
19-2213556-C-T c.1576C>T p.L526= Synonymous 17/28 - 1
19-2213559-G-T c.1579G>T p.G527C Missense 17/28 - 2
19-2213560-GT-AG c.1580_1581delinsAG p.G527E Missense 17/28 - 1
19-2213563-C-T c.1583C>T p.A528V Missense 17/28 - 6
19-2213567-T-A c.1587T>A p.A529= Synonymous 17/28 - 1
19-2213567-T-C c.1587T>C p.A529= Synonymous 17/28 - 1
19-2213567-T-G c.1587T>G p.A529= Synonymous 17/28 - 1
19-2213576-C-G c.1596C>G p.L532= Synonymous 17/28 - 1
19-2213579-C-A c.1599C>A p.L533= Synonymous 17/28 - 1
19-2213579-C-G c.1599C>G p.L533= Synonymous 17/28 - 1
19-2213579-C-T c.1599C>T p.L533= Synonymous 17/28 - 2
19-2213580-AG-TT c.1600_1601delinsTT p.S534F Missense 17/28 - 1
19-2213582-C-T c.1602C>T p.S534= Synonymous 17/28 - 2
19-2213589-C-G c.1609C>G p.Q537E Missense 17/28 - 9
19-2213592-G-A c.1612G>A p.A538T Missense 17/28 - 2
19-2213594-C-A c.1614C>A p.A538= Synonymous 17/28 - 2
19-2213594-C-G c.1614C>G p.A538= Synonymous 17/28 - 2
19-2213594-C-T c.1614C>T p.A538= Synonymous 17/28 - 2
19-2213597-G-A c.1617G>A p.Q539= Synonymous 17/28 - 2
19-2213603-G-C c.1623G>C p.E541D Missense 17/28 - 1
19-2213603-G-T c.1623G>T p.E541D Missense 17/28 - 1
19-2213604-G-A c.1624G>A p.E542K Missense 17/28 - 1
19-2213605-A-G c.1625A>G p.E542G Missense 17/28 - 1
19-2213607-A-G c.1627A>G p.I543V Missense 17/28 - 1
19-2213611-G-A c.1631G>A p.R544K Missense 17/28 - 2
19-2213613-A-T c.1633A>T p.R545W Missense 17/28 - 2
19-2213614-G-A c.1634G>A p.R545K Missense 17/28 - 1
19-2213625-CAAA-C c.1648_1650del p.K550del InFrameDeletion 17/28 - 1
19-2213629-A-G c.1649A>G p.K550R Missense 17/28 - 1
19-2213631-T-C c.1651T>C p.L551= Synonymous 17/28 - 1
19-2213631-TT-GC c.1651_1652delinsGC p.L551A Missense 17/28 - 1
19-2213633-G-A c.1653G>A p.L551= Synonymous 17/28 - 1
19-2213630-A-AT c.1652dup p.L551Ffs*3 Frameshift 17/28 - 1
19-2213634-G-A c.1654G>A p.D552N Missense 17/28 - 3
19-2213639-G-T c.1659G>T p.E553D Missense 17/28 - 1
19-2213640-G-C c.1659+1G>C - IntronicSNV - 17/27 1
19-2213690-G-T c.1659+51G>T - IntronicSNV - 17/27 1
19-2213721-G-A c.1659+82G>A - IntronicSNV - 17/27 1
19-2213850-G-T c.1662G>T p.L554= Synonymous 18/28 - 1
19-2213851-G-C c.1663G>C p.G555R Missense 18/28 - 1
19-2213853-GT-G c.1665del p.V556* Frameshift 18/28 - 1
19-2213856-G-A c.1668G>A p.V556= Synonymous 18/28 - 1
19-2213859-G-A c.1671G>A p.K557= Synonymous 18/28 - 1
19-2213859-G-C c.1671G>C p.K557N Missense 18/28 - 1
19-2213859-G-T c.1671G>T p.K557N Missense 18/28 - 1
19-2213862-G-T c.1674G>T p.A558= Synonymous 18/28 - 1
19-2213867-C-T c.1679C>T p.T560I Missense 18/28 - 1
19-2213874-C-A c.1686C>A p.N562K Missense 18/28 - 1
19-2213874-C-G c.1686C>G p.N562K Missense 18/28 - 1
19-2213877-C-T c.1689C>T p.D563= Synonymous 18/28 - 1
19-2213878-C-T c.1690C>T p.L564= Synonymous 18/28 - 2
19-2213880-G-A c.1692G>A p.L564= Synonymous 18/28 - 1
19-2213880-G-C c.1692G>C p.L564= Synonymous 18/28 - 1
19-2213880-G-T c.1692G>T p.L564= Synonymous 18/28 - 1
19-2213884-C-A c.1696C>A p.Q566K Missense 18/28 - 1
19-2213887-G-A c.1699G>A p.A567T Missense 18/28 - 1
19-2213888-C-T c.1700C>T p.A567V Missense 18/28 - 3
19-2213889-G-T c.1701G>T p.A567= Synonymous 18/28 - 1
19-2213891-A-G c.1703A>G p.Q568R Missense 18/28 - 1
19-2213895-G-A c.1707G>A p.K569= Synonymous 18/28 - 1
19-2213896-G-A c.1708G>A p.E570K Missense 18/28 - 3
19-2213896-G-C c.1708G>C p.E570Q Missense 18/28 - 1
19-2213899-AT-GA c.1711_1712delinsGA p.I571D Missense 18/28 - 1
19-2213900-T-A c.1712T>A p.I571N Missense 18/28 - 1
19-2213901-C-A c.1713C>A p.I571= Synonymous 18/28 - 1
19-2213903-C-T c.1715C>T p.S572F Missense 18/28 - 1
19-2213905-G-A c.1717G>A p.A573T Missense 18/28 - 1
19-2213905-G-C c.1717G>C p.A573P Missense 18/28 - 1
19-2213912-A-G c.1724A>G p.N575S Missense 18/28 - 1
19-2213913-C-T c.1725C>T p.N575= Synonymous 18/28 - 1
19-2213914-C-T c.1726C>T p.Q576* Nonsense 18/28 - 2
19-2213920-CTG-GAC c.1732_1734delinsGAC p.L578D Missense 18/28 - 1
19-2213923-C-T c.1735C>T p.R579W Missense 18/28 - 2
19-2213926-G-T c.1738G>T p.E580* Nonsense 18/28 - 2
19-2213932-T-G c.1744T>G p.S582A Missense 18/28 - 1
19-2213933-C-T c.1745C>T p.S582L Missense 18/28 - 1
19-2213939-A-C c.1751A>C p.Q584P Missense 18/28 - 1
19-2213942-T-C c.1754T>C p.L585P Missense 18/28 - 1
19-2213942-T-G c.1754T>G p.L585R Missense 18/28 - 1
19-2213943-TGG-T c.1755_1756del p.E586Afs*80 Frameshift 18/28 - 1
19-2213944-G-A c.1756G>A p.E586K Missense 18/28 - 1
19-2213945-A-T c.1757A>T p.E586V Missense 18/28 - 1
19-2213949-G-A c.1761G>A p.Q587= Synonymous 18/28 - 3
19-2213952-C-A c.1764C>A p.D588E Missense 18/28 - 1
19-2213952-C-G c.1764C>G p.D588E Missense 18/28 - 4
19-2213956-C-T c.1768C>T p.R590C Missense 18/28 - 5
19-2213959-G-A c.1771G>A p.A591T Missense 18/28 - 3
19-2213960-C-T c.1772C>T p.A591V Missense 18/28 - 3
19-2213961-G-A c.1773G>A p.A591= Synonymous 18/28 - 3
19-2213961-G-C c.1773G>C p.A591= Synonymous 18/28 - 2
19-2213961-G-T c.1773G>T p.A591= Synonymous 18/28 - 2
19-2213962-C-G c.1774C>G p.L592V Missense 18/28 - 1
19-2213964-C-A c.1776C>A p.L592= Synonymous 18/28 - 2
19-2213964-C-G c.1776C>G p.L592= Synonymous 18/28 - 1
19-2213964-C-T c.1776C>T p.L592= Synonymous 18/28 - 2
19-2213965-C-T c.1777C>T p.R593C Missense 18/28 - 8
19-2213966-G-A c.1778G>A p.R593H Missense 18/28 - 2
19-2213968-G-A c.1780G>A p.G594S Missense 18/28 - 3
19-2213969-G-A c.1781G>A p.G594D Missense 18/28 - 1
19-2213969-G-C c.1781G>C p.G594A Missense 18/28 - 1
19-2213971-C-T c.1783C>T p.Q595* Nonsense 18/28 - 1
19-2213973-G-C c.1785G>C p.Q595H Missense 18/28 - 1
19-2213973-G-T c.1785G>T p.Q595H Missense 18/28 - 1
19-2213979-G-A c.1791G>A p.L597= Synonymous 18/28 - 1
19-2213981-A-C c.1793A>C p.Q598P Missense 18/28 - 1
19-2213999-C-A c.1797+14C>A - IntronicSNV - 18/27 1
19-2214057-C-T c.1797+72C>T - IntronicSNV - 18/27 6
19-2214140-G-A c.1797+155G>A - IntronicSNV - 18/27 1
19-2214472-C-A c.1800C>A p.L600= Synonymous 19/28 - 1
19-2214472-C-G c.1800C>G p.L600= Synonymous 19/28 - 1
19-2214472-C-T c.1800C>T p.L600= Synonymous 19/28 - 1
19-2214473-A-G c.1801A>G p.K601E Missense 19/28 - 1
19-2214474-A-T c.1802A>T p.K601M Missense 19/28 - 1
19-2214478-T-A c.1806T>A p.A602= Synonymous 19/28 - 1
19-2214478-T-C c.1806T>C p.A602= Synonymous 19/28 - 1
19-2214478-T-G c.1806T>G p.A602= Synonymous 19/28 - 1
19-2214479-C-G c.1807C>G p.R603G Missense 19/28 - 1
19-2214480-G-A c.1808G>A p.R603H Missense 19/28 - 1
19-2214482-T-A c.1810T>A p.C604S Missense 19/28 - 1
19-2214483-G-C c.1811G>C p.C604S Missense 19/28 - 1
19-2214487-G-C c.1815G>C p.E605D Missense 19/28 - 1
19-2214487-G-T c.1815G>T p.E605D Missense 19/28 - 1
19-2214494-C-T c.1822C>T p.Q608* Nonsense 19/28 - 8
19-2214497-C-G c.1825C>G p.L609V Missense 19/28 - 1
19-2214500-G-C c.1828G>C p.D610H Missense 19/28 - 1
19-2214500-G-T c.1828G>T p.D610Y Missense 19/28 - 1
19-2214503-T-A c.1831T>A p.W611R Missense 19/28 - 1
19-2214503-T-C c.1831T>C p.W611R Missense 19/28 - 1
19-2214509-A-T c.1837A>T p.T613S Missense 19/28 - 1
19-2214510-C-T c.1838C>T p.T613M Missense 19/28 - 3
19-2214517-G-A c.1845G>A p.S615= Synonymous 19/28 - 2
19-2214517-G-C c.1845G>C p.S615= Synonymous 19/28 - 1
19-2214517-G-T c.1845G>T p.S615= Synonymous 19/28 - 1
19-2214519-T-C c.1847T>C p.L616P Missense 19/28 - 1
19-2214521-G-A c.1849G>A p.E617K Missense 19/28 - 1
19-2214521-G-C c.1849G>C p.E617Q Missense 19/28 - 1
19-2214522-A-T c.1850A>T p.E617V Missense 19/28 - 1
19-2214524-A-G c.1852A>G p.K618E Missense 19/28 - 3
19-2214525-A-G c.1853A>G p.K618R Missense 19/28 - 1
19-2214526-G-C c.1854G>C p.K618N Missense 19/28 - 1
19-2214526-G-T c.1854G>T p.K618N Missense 19/28 - 2
19-2214536-G-A c.1864G>A p.E622K Missense 19/28 - 1
19-2214536-G-C c.1864G>C p.E622Q Missense 19/28 - 1
19-2214539-A-T c.1867A>T p.K623* Nonsense 19/28 - 1
19-2214549-T-C c.1877T>C p.L626P Missense 19/28 - 1
19-2214551-A-G c.1879A>G p.K627E Missense 19/28 - 1
19-2214551-A-T c.1879A>T p.K627* Nonsense 19/28 - 1
19-2214554-AG-TT c.1882_1883delinsTT p.S628F Missense 19/28 - 1
19-2214557-C-G c.1885C>G p.Q629E Missense 19/28 - 1
19-2214560-AT-GC c.1888_1889delinsGC p.I630A Missense 19/28 - 1
19-2214562-C-G c.1890C>G p.I630M Missense 19/28 - 1
19-2214564-C-G c.1892C>G p.S631W Missense 19/28 - 1
19-2214564-C-T c.1892C>T p.S631L Missense 19/28 - 5
19-2214566-G-C c.1894G>C p.E632Q Missense 19/28 - 1
19-2214569-A-G c.1897A>G p.K633E Missense 19/28 - 1
19-2214570-A-G c.1898A>G p.K633R Missense 19/28 - 1
19-2214571-G-A c.1899G>A p.K633= Synonymous 19/28 - 1
19-2214574-G-A c.1902G>A p.Q634= Synonymous 19/28 - 4
19-2214575-A-C c.1903A>C p.R635= Synonymous 19/28 - 1
19-2214575-A-G c.1903A>G p.R635G Missense 19/28 - 1
19-2214575-A-T c.1903A>T p.R635W Missense 19/28 - 1
19-2214576-G-T c.1904G>T p.R635M Missense 19/28 - 1
19-2214577-G-T c.1905G>T p.R635S Missense 19/28 - 1
19-2214581-T-G c.1909T>G p.C637G Missense 19/28 - 2
19-2214587-G-A c.1915G>A p.E639K Missense 19/28 - 1
19-2214589-G-A c.1917G>A p.E639= Synonymous 19/28 - 1
19-2214590-CT-GC c.1918_1919delinsGC p.L640A Missense 19/28 - 1
19-2214592-G-A c.1920G>A p.L640= Synonymous 19/28 - 1
19-2214593-C-T c.1921C>T p.Q641* Nonsense 19/28 - 1
19-2214604-C-T c.1923+9C>T - IntronicSNV - 19/27 1
19-2214608-C-T c.1923+13C>T - IntronicSNV - 19/27 1
19-2214609-G-A c.1923+14G>A - IntronicSNV - 19/27 1
19-2216280-AT-GC c.1924_1925delinsGC p.I642A Missense 20/28 - 1
19-2216282-C-A c.1926C>A p.I642= Synonymous 20/28 - 1
19-2216282-C-T c.1926C>T p.I642= Synonymous 20/28 - 3
19-2216284-G-A c.1928G>A p.S643N Missense 20/28 - 1
19-2216288-T-G c.1932T>G p.I644M Missense 20/28 - 1
19-2216289-G-T c.1933G>T p.V645L Missense 20/28 - 1
19-2216289-GTG-ATC c.1933_1935delinsATC p.V645I Missense 20/28 - 1
19-2216292-G-A c.1936G>A p.E646K Missense 20/28 - 1
19-2216296-T-C c.1940T>C p.L647P Missense 20/28 - 1
19-2216295-C-T c.1939C>T p.L647= Synonymous 20/28 - 1
19-2216297-A-C c.1941A>C p.L647= Synonymous 20/28 - 1
19-2216297-A-G c.1941A>G p.L647= Synonymous 20/28 - 1
19-2216297-A-T c.1941A>T p.L647= Synonymous 20/28 - 1
19-2216298-G-A c.1942G>A p.E648K Missense 20/28 - 1
19-2216303-G-A c.1947G>A p.K649= Synonymous 20/28 - 1
19-2216303-G-T c.1947G>T p.K649N Missense 20/28 - 1
19-2216304-AG-GC c.1948_1949delinsGC p.S650A Missense 20/28 - 1
19-2216310-C-T c.1954C>T p.R652W Missense 20/28 - 5
19-2216314-A-G c.1958A>G p.Q653R Missense 20/28 - 1
19-2216319-G-C c.1963G>C p.E655Q Missense 20/28 - 1
19-2216319-G-T c.1963G>T p.E655* Nonsense 20/28 - 2
19-2216321-G-A c.1965G>A p.E655= Synonymous 20/28 - 1
19-2216325-C-T c.1969C>T p.L657= Synonymous 20/28 - 3
19-2216329-A-G c.1973A>G p.Q658R Missense 20/28 - 1
19-2216333-C-G c.1977C>G p.L659= Synonymous 20/28 - 1
19-2216334-A-G c.1978A>G p.K660E Missense 20/28 - 2
19-2216336-G-C c.1980G>C p.K660N Missense 20/28 - 1
19-2216336-G-T c.1980G>T p.K660N Missense 20/28 - 1
19-2216338-C-A c.1982C>A p.S661Y Missense 20/28 - 1
19-2216339-C-A c.1983C>A p.S661= Synonymous 20/28 - 1
19-2216341-G-C c.1985G>C p.C662S Missense 20/28 - 1
19-2216344-T-G c.1988T>G p.V663G Missense 20/28 - 1
19-2216346-C-G c.1990C>G p.P664A Missense 20/28 - 4
19-2216347-C-T c.1991C>T p.P664L Missense 20/28 - 3
19-2216348-G-A c.1992G>A p.P664= Synonymous 20/28 - 1
19-2216348-G-C c.1992G>C p.P664= Synonymous 20/28 - 1
19-2216348-G-T c.1992G>T p.P664= Synonymous 20/28 - 1
19-2216355-G-A c.1999G>A p.D667N Missense 20/28 - 2
19-2216355-G-T c.1999G>T p.D667Y Missense 20/28 - 1
19-2216357-C-T c.2001C>T p.D667= Synonymous 20/28 - 1
19-2216358-G-A c.2002G>A p.A668T Missense 20/28 - 2
19-2216359-C-T c.2003C>T p.A668V Missense 20/28 - 2
19-2216358-G-GC c.2005dup p.L669Pfs*18 Frameshift 20/28 - 1
19-2216361-C-G c.2005C>G p.L669V Missense 20/28 - 1
19-2216361-CT-TC c.2005_2006delinsTC p.L669S Missense 20/28 - 1
19-2216365-C-T c.2009C>T p.S670F Missense 20/28 - 1
19-2216367-C-A c.2011C>A p.L671M Missense 20/28 - 1
19-2216367-C-T c.2011C>T p.L671= Synonymous 20/28 - 4
19-2216369-G-A c.2013G>A p.L671= Synonymous 20/28 - 3
19-2216369-G-C c.2013G>C p.L671= Synonymous 20/28 - 3
19-2216369-G-T c.2013G>T p.L671= Synonymous 20/28 - 3
19-2216373-C-G c.2017C>G p.L673V Missense 20/28 - 1
19-2216376-C-T c.2020C>T p.R674C Missense 20/28 - 2
19-2216377-G-A c.2021G>A p.R674H Missense 20/28 - 1
19-2216377-G-T c.2021G>T p.R674L Missense 20/28 - 1
19-2216379-G-A c.2023G>A p.G675R Missense 20/28 - 1
19-2216379-G-C c.2023G>C p.G675R Missense 20/28 - 1
19-2216389-C-T c.2033C>T p.A678V Missense 20/28 - 1
19-2216391-C-A c.2035C>A p.L679M Missense 20/28 - 1
19-2216394-G-T c.2038G>T p.G680C Missense 20/28 - 1
19-2216397-CGC-TGG c.2041_2043delinsTGG p.R681W Missense 20/28 - 1
19-2216397-C-T c.2041C>T p.R681C Missense 20/28 - 1
19-2216398-G-A c.2042G>A p.R681H Missense 20/28 - 1
19-2216399-C-T c.2043C>T p.R681= Synonymous 20/28 - 1
19-2216400-G-T c.2044G>T p.E682* Nonsense 20/28 - 2
19-2216403-CTG-TTT c.2047_2049delinsTTT p.L683F Missense 20/28 - 1
19-2216404-T-A c.2048T>A p.L683Q Missense 20/28 - 1
19-2216406-G-T c.2050G>T p.E684* Nonsense 20/28 - 1
19-2216409-C-A c.2053C>A p.P685T Missense 20/28 - 1
19-2216414-C-A c.2058C>A p.D686E Missense 20/28 - 2
19-2216414-C-G c.2058C>G p.D686E Missense 20/28 - 2
19-2216415-G-A c.2059G>A p.A687T Missense 20/28 - 2
19-2216416-C-T c.2060C>T p.A687V Missense 20/28 - 9
19-2216417-C-A c.2061C>A p.A687= Synonymous 20/28 - 1
19-2216417-C-G c.2061C>G p.A687= Synonymous 20/28 - 1
19-2216417-C-T c.2061C>T p.A687= Synonymous 20/28 - 2
19-2216422-G-A c.2066G>A p.R689Q Missense 20/28 - 1
19-2216422-G-T c.2066G>T p.R689L Missense 20/28 - 1
19-2216424-C-T c.2068C>T p.L690= Synonymous 20/28 - 2
19-2216426-G-A c.2070G>A p.L690= Synonymous 20/28 - 2
19-2216426-G-C c.2070G>C p.L690= Synonymous 20/28 - 2
19-2216426-G-T c.2070G>T p.L690= Synonymous 20/28 - 2
19-2216437-T-C c.2081T>C p.L694P Missense 20/28 - 1
19-2216439-G-C c.2083G>C p.D695H Missense 20/28 - 1
19-2216439-G-T c.2083G>T p.D695Y Missense 20/28 - 1
19-2216441-C-T c.2085C>T p.D695= Synonymous 20/28 - 1
19-2216444-C-T c.2088C>T p.C696= Synonymous 20/28 - 1
19-2216457-C-T c.2101C>T p.L701= Synonymous 20/28 - 1
19-2216468-G-C c.2112G>C p.L704F Missense 20/28 - 4
19-2216469-AG-CC c.2113_2114delinsCC p.S705P Missense 20/28 - 1
19-2216471-C-T c.2115C>T p.S705= Synonymous 20/28 - 1
19-2216473-G-A c.2117G>A p.S706N Missense 20/28 - 1
19-2216475-A-G c.2119A>G p.M707V Missense 20/28 - 2
19-2216481-CC-GT c.2125_2126delinsGT p.P709V Missense 20/28 - 1
19-2216481-C-G c.2125C>G p.P709A Missense 20/28 - 2
19-2216482-C-A c.2126C>A p.P709Q Missense 20/28 - 1
19-2216482-C-T c.2126C>T p.P709L Missense 20/28 - 2
19-2216484-G-A c.2128G>A p.E710K Missense 20/28 - 3
19-2216489-C-A c.2133C>A p.L711= Synonymous 20/28 - 2
19-2216489-C-G c.2133C>G p.L711= Synonymous 20/28 - 2
19-2216489-C-T c.2133C>T p.L711= Synonymous 20/28 - 2
19-2216493-A-G c.2137A>G p.M713V Missense 20/28 - 1
19-2216499-G-A c.2143G>A p.G715S Missense 20/28 - 1
19-2216500-G-A c.2144G>A p.G715D Missense 20/28 - 1
19-2216501-C-A c.2145C>A p.G715= Synonymous 20/28 - 1
19-2216501-C-G c.2145C>G p.G715= Synonymous 20/28 - 1
19-2216501-C-T c.2145C>T p.G715= Synonymous 20/28 - 2
19-2216504-G-C c.2148G>C p.Q716H Missense 20/28 - 1
19-2216504-G-T c.2148G>T p.Q716H Missense 20/28 - 1
19-2216505-G-T c.2149G>T p.A717S Missense 20/28 - 1
19-2216507-T-A c.2151T>A p.A717= Synonymous 20/28 - 1
19-2216507-T-C c.2151T>C p.A717= Synonymous 20/28 - 1
19-2216507-T-G c.2151T>G p.A717= Synonymous 20/28 - 1
19-2216508-G-C c.2152G>C p.A718P Missense 20/28 - 1
19-2216512-G-A c.2156G>A p.G719D Missense 20/28 - 1
19-2216518-A-G c.2162A>G p.E721G Missense 20/28 - 1
19-2216525-C-T c.2169C>T p.C723= Synonymous 20/28 - 1
19-2216526-G-A c.2170G>A p.G724S Missense 20/28 - 3
19-2216532-C-A c.2176C>A p.L726M Missense 20/28 - 2
19-2216534-G-A c.2178G>A p.L726= Synonymous 20/28 - 1
19-2216536-G-T c.2180G>T p.S727I Missense 20/28 - 1
19-2216537-C-T c.2181C>T p.S727= Synonymous 20/28 - 1
19-2216538-C-T c.2182C>T p.R728W Missense 20/28 - 1
19-2216539-G-A c.2183G>A p.R728Q Missense 20/28 - 1
19-2216542-C-T c.2186C>T p.P729L Missense 20/28 - 1
19-2216545-C-A c.2189C>A p.S730* Nonsense 20/28 - 1
19-2216545-C-T c.2189C>T p.S730L Missense 20/28 - 1
19-2216546-G-A c.2190G>A p.S730= Synonymous 20/28 - 1
19-2216548-C-T c.2192C>T p.S731L Missense 20/28 - 1
19-2216549-G-A c.2193G>A p.S731= Synonymous 20/28 - 1
19-2216552-G-T c.2196G>T p.K732N Missense 20/28 - 1
19-2216555-G-C c.2199G>C p.Q733H Missense 20/28 - 1
19-2216555-G-T c.2199G>T p.Q733H Missense 20/28 - 1
19-2216558-C-CA c.2203dup p.T735Nfs*19 Frameshift 20/28 - 1
19-2216560-C-G c.2204C>G p.T735R Missense 20/28 - 2
19-2216560-C-T c.2204C>T p.T735M Missense 20/28 - 3
19-2216561-G-A c.2205G>A p.T735= Synonymous 20/28 - 3
19-2216561-G-C c.2205G>C p.T735= Synonymous 20/28 - 3
19-2216561-G-T c.2205G>T p.T735= Synonymous 20/28 - 3
19-2216562-C-G c.2206C>G p.P736A Missense 20/28 - 1
19-2216567-G-C c.2211G>C p.Q737H Missense 20/28 - 2
19-2216567-G-T c.2211G>T p.Q737H Missense 20/28 - 4
19-2216569-A-G c.2213A>G p.Y738C Missense 20/28 - 1
19-2216570-C-G c.2214C>G p.Y738* Nonsense 20/28 - 1
19-2216574-G-A c.2218G>A p.A740T Missense 20/28 - 2
19-2216575-C-T c.2219C>T p.A740V Missense 20/28 - 1
19-2216576-C-G c.2220C>G p.A740= Synonymous 20/28 - 1
19-2216581-C-A c.2225C>A p.P742H Missense 20/28 - 6
19-2216583-C-T c.2227C>T p.L743= Synonymous 20/28 - 1
19-2216585-G-A c.2229G>A p.L743= Synonymous 20/28 - 1
19-2216585-G-C c.2229G>C p.L743= Synonymous 20/28 - 1
19-2216585-G-T c.2229G>T p.L743= Synonymous 20/28 - 1
19-2216590-A-C c.2234A>C p.Q745P Missense 20/28 - 1
19-2216592-G-C c.2236G>C p.E746Q Missense 20/28 - 1
19-2216598-G-A c.2242G>A p.V748M Missense 20/28 - 1
19-2216600-G-A c.2244G>A p.V748= Synonymous 20/28 - 1
19-2216600-G-C c.2244G>C p.V748= Synonymous 20/28 - 2
19-2216600-G-T c.2244G>T p.V748= Synonymous 20/28 - 1
19-2216603-C-T c.2247C>T p.P749= Synonymous 20/28 - 1
19-2216606-T-C c.2250T>C p.C750= Synonymous 20/28 - 1
19-2216606-T-G c.2250T>G p.C750W Missense 20/28 - 1
19-2216610-C-G c.2254C>G p.P752A Missense 20/28 - 1
19-2216610-C-T c.2254C>T p.P752S Missense 20/28 - 2
19-2216619-G-A c.2263G>A p.V755I Missense 20/28 - 1
19-2216619-G-T c.2263G>T p.V755F Missense 20/28 - 1
19-2216623-G-C c.2267G>C p.G756A Missense 20/28 - 1
19-2216626-G-A c.2270G>A p.R757Q Missense 20/28 - 1
19-2216626-G-T c.2270G>T p.R757L Missense 20/28 - 1
19-2216628-CC-TT c.2272_2273delinsTT p.P758L Missense 20/28 - 1
19-2216628-C-T c.2272C>T p.P758S Missense 20/28 - 2
19-2216629-C-T c.2273C>T p.P758L Missense 20/28 - 5
19-2216630-G-A c.2274G>A p.P758= Synonymous 20/28 - 2
19-2216630-G-T c.2274G>T p.P758= Synonymous 20/28 - 1
19-2216631-C-T c.2275C>T p.R759C Missense 20/28 - 1
19-2216634-C-T c.2278C>T p.L760= Synonymous 20/28 - 1
19-2216636-G-A c.2280G>A p.L760= Synonymous 20/28 - 1
19-2216636-G-C c.2280G>C p.L760= Synonymous 20/28 - 1
19-2216636-G-T c.2280G>T p.L760= Synonymous 20/28 - 1
19-2216641-A-C c.2285A>C p.K762T Missense 20/28 - 1
19-2216645-G-A c.2289G>A p.L763= Synonymous 20/28 - 1
19-2216645-G-T c.2289G>T p.L763= Synonymous 20/28 - 1
19-2216646-TC-CT c.2290_2291delinsCT p.S764L Missense 20/28 - 1
19-2216649-G-A c.2293G>A p.G765S Missense 20/28 - 1
19-2216651-C-A c.2295C>A p.G765= Synonymous 20/28 - 1
19-2216651-C-G c.2295C>G p.G765= Synonymous 20/28 - 1
19-2216651-C-T c.2295C>T p.G765= Synonymous 20/28 - 1
19-2216658-G-A c.2302G>A p.A768T Missense 20/28 - 7
19-2216658-G-C c.2302G>C p.A768P Missense 20/28 - 1
19-2216658-GC-CT c.2302_2303delinsCT p.A768L Missense 20/28 - 1
19-2216661-C-A c.2305C>A p.P769T Missense 20/28 - 1
19-2216661-C-G c.2305C>G p.P769A Missense 20/28 - 1
19-2216662-C-T c.2306C>T p.P769L Missense 20/28 - 4
19-2216663-C-G c.2307C>G p.P769= Synonymous 20/28 - 1
19-2216664-G-A c.2308G>A p.D770N Missense 20/28 - 1
19-2216680-C-T c.2324C>T p.S775F Missense 20/28 - 2
19-2216681-C-A c.2325C>A p.S775= Synonymous 20/28 - 1
19-2216681-C-G c.2325C>G p.S775= Synonymous 20/28 - 1
19-2216681-C-T c.2325C>T p.S775= Synonymous 20/28 - 2
19-2216683-C-T c.2327C>T p.P776L Missense 20/28 - 7
19-2216684-G-A c.2328G>A p.P776= Synonymous 20/28 - 1
19-2216684-G-C c.2328G>C p.P776= Synonymous 20/28 - 2
19-2216684-G-T c.2328G>T p.P776= Synonymous 20/28 - 1
19-2216686-C-A c.2330C>A p.A777D Missense 20/28 - 1
19-2216687-C-T c.2331C>T p.A777= Synonymous 20/28 - 1
19-2216690-AG-A c.2334del p.I779Lfs*3 Frameshift 20/28 - 1
19-2216697-C-T c.2341C>T p.L781= Synonymous 20/28 - 2
19-2216699-G-A c.2343G>A p.L781= Synonymous 20/28 - 3
19-2216699-G-C c.2343G>C p.L781= Synonymous 20/28 - 2
19-2216699-G-T c.2343G>T p.L781= Synonymous 20/28 - 3
19-2216701-G-A c.2345G>A p.R782K Missense 20/28 - 1
19-2216701-G-T c.2345G>T p.R782M Missense 20/28 - 1
19-2216703-C-A c.2347C>A p.R783= Synonymous 20/28 - 2
19-2216703-C-T c.2347C>T p.R783W Missense 20/28 - 2
19-2216705-G-A c.2349G>A p.R783= Synonymous 20/28 - 3
19-2216705-G-C c.2349G>C p.R783= Synonymous 20/28 - 2
19-2216705-G-T c.2349G>T p.R783= Synonymous 20/28 - 2
19-2216708-C-T c.2352C>T p.H784= Synonymous 20/28 - 1
19-2216709-C-T c.2353C>T p.L785= Synonymous 20/28 - 1
19-2216711-G-A c.2355G>A p.L785= Synonymous 20/28 - 2
19-2216711-G-C c.2355G>C p.L785= Synonymous 20/28 - 1
19-2216711-G-T c.2355G>T p.L785= Synonymous 20/28 - 1
19-2216712-A-G c.2356A>G p.S786G Missense 20/28 - 1
19-2216713-G-A c.2357G>A p.S786N Missense 20/28 - 1
19-2216712-A-C c.2356A>C p.S786R Missense 20/28 - 1
19-2216714-C-A c.2358C>A p.S786R Missense 20/28 - 1
19-2216714-C-G c.2358C>G p.S786R Missense 20/28 - 1
19-2216714-C-T c.2358C>T p.S786= Synonymous 20/28 - 3
19-2216716-A-G c.2360A>G p.Q787R Missense 20/28 - 1
19-2216725-C-T c.2369C>T p.T790M Missense 20/28 - 2
19-2216726-G-A c.2370G>A p.T790= Synonymous 20/28 - 1
19-2216731-C-T c.2375C>T p.P792L Missense 20/28 - 3
19-2216734-G-A c.2378G>A p.G793D Missense 20/28 - 1
19-2216736-AG-TA c.2380_2381delinsTA p.R794* Nonsense 20/28 - 1
19-2216736-A-T c.2380A>T p.R794W Missense 20/28 - 1
19-2216739-C-T c.2383C>T p.P795S Missense 20/28 - 1
19-2216741-G-T c.2385G>T p.P795= Synonymous 20/28 - 2
19-2216743-C-G c.2387C>G p.A796G Missense 20/28 - 1
19-2216745-TGCC-T c.2389_2391del p.A797del InFrameDeletion 20/28 - 1
19-2216748-AG-GC c.2392_2393delinsGC p.S798A Missense 20/28 - 1
19-2216756-G-A c.2400G>A p.L800= Synonymous 20/28 - 1
19-2216761-C-T c.2405C>T p.S802L Missense 20/28 - 3
19-2216762-G-A c.2406G>A p.S802= Synonymous 20/28 - 2
19-2216762-G-C c.2406G>C p.S802= Synonymous 20/28 - 1
19-2216762-G-T c.2406G>T p.S802= Synonymous 20/28 - 1
19-2216769-G-C c.2408+5G>C - IntronicSNV - 20/27 1
19-2216919-C-T c.2409-35C>T - IntronicSNV - 20/27 1
19-2216955-G-A c.2410G>A p.A804T Missense 21/28 - 1
19-2216957-T-C c.2412T>C p.A804= Synonymous 21/28 - 1
19-2216969-G-T c.2424G>T p.K808N Missense 21/28 - 1
19-2216972-G-T c.2427G>T p.E809D Missense 21/28 - 1
19-2216976-G-A c.2431G>A p.G811S Missense 21/28 - 1
19-2216978-C-G c.2433C>G p.G811= Synonymous 21/28 - 1
19-2216983-C-T c.2438C>T p.P813L Missense 21/28 - 2
19-2216984-C-T c.2439C>T p.P813= Synonymous 21/28 - 1
19-2216988-C-T c.2443C>T p.Q815* Nonsense 21/28 - 1
19-2216995-C-A c.2450C>A p.P817H Missense 21/28 - 1
19-2217002-G-A c.2457G>A p.V819= Synonymous 21/28 - 1
19-2217002-G-C c.2457G>C p.V819= Synonymous 21/28 - 1
19-2217002-G-T c.2457G>T p.V819= Synonymous 21/28 - 1
19-2217004-C-G c.2459C>G p.P820R Missense 21/28 - 1
19-2217007-G-C c.2462G>C p.G821A Missense 21/28 - 4
19-2217008-C-T c.2463C>T p.G821= Synonymous 21/28 - 1
19-2217014-G-A c.2469G>A p.M823I Missense 21/28 - 1
19-2217014-G-C c.2469G>C p.M823I Missense 21/28 - 1
19-2217014-G-T c.2469G>T p.M823I Missense 21/28 - 2
19-2217015-A-C c.2470A>C p.K824Q Missense 21/28 - 1
19-2217016-A-T c.2471A>T p.K824M Missense 21/28 - 1
19-2217017-G-C c.2472G>C p.K824N Missense 21/28 - 1
19-2217017-G-T c.2472G>T p.K824N Missense 21/28 - 2
19-2217018-CT-TC c.2473_2474delinsTC p.L825S Missense 21/28 - 1
19-2217018-C-T c.2473C>T p.L825= Synonymous 21/28 - 1
19-2217020-G-A c.2475G>A p.L825= Synonymous 21/28 - 1
19-2217020-G-C c.2475G>C p.L825= Synonymous 21/28 - 1
19-2217020-G-T c.2475G>T p.L825= Synonymous 21/28 - 1
19-2217022-G-A c.2477G>A p.S826N Missense 21/28 - 2
19-2217023-C-T c.2478C>T p.S826= Synonymous 21/28 - 4
19-2217030-G-A c.2485G>A p.D829N Missense 21/28 - 1
19-2217034-C-T c.2489C>T p.P830L Missense 21/28 - 1
19-2217035-G-A c.2490G>A p.P830= Synonymous 21/28 - 1
19-2217036-C-T c.2491C>T p.R831W Missense 21/28 - 1
19-2217037-G-A c.2492G>A p.R831Q Missense 21/28 - 2
19-2217039-C-T c.2494C>T p.P832S Missense 21/28 - 1
19-2217040-C-T c.2495C>T p.P832L Missense 21/28 - 5
19-2217041-C-T c.2496C>T p.P832= Synonymous 21/28 - 2
19-2217043-T-A c.2498T>A p.L833Q Missense 21/28 - 1
19-2217047-C-A c.2502C>A p.S834= Synonymous 21/28 - 1
19-2217047-C-G c.2502C>G p.S834= Synonymous 21/28 - 1
19-2217047-C-T c.2502C>T p.S834= Synonymous 21/28 - 2
19-2217050-T-A c.2505T>A p.P835= Synonymous 21/28 - 1
19-2217051-GGG-AGC c.2506_2508delinsAGC p.G836S Missense 21/28 - 1
19-2217052-G-T c.2507G>T p.G836V Missense 21/28 - 1
19-2217053-G-A c.2508G>A p.G836= Synonymous 21/28 - 3
19-2217053-G-C c.2508G>C p.G836= Synonymous 21/28 - 2
19-2217053-G-T c.2508G>T p.G836= Synonymous 21/28 - 1
19-2217054-G-A c.2509G>A p.A837T Missense 21/28 - 2
19-2217057-T-G c.2512T>G p.L838V Missense 21/28 - 1
19-2217058-T-C c.2513T>C p.L838S Missense 21/28 - 1
19-2217058-T-G c.2513T>G p.L838W Missense 21/28 - 1
19-2217061-A-G c.2516A>G p.Q839R Missense 21/28 - 1
19-2217062-G-A c.2517G>A p.Q839= Synonymous 21/28 - 1
19-2217063-C-A c.2518C>A p.L840I Missense 21/28 - 1
19-2217069-G-A c.2524G>A p.G842R Missense 21/28 - 1
19-2217069-G-C c.2524G>C p.G842R Missense 21/28 - 1
19-2217070-G-A c.2525G>A p.G842E Missense 21/28 - 1
19-2217071-A-C c.2526A>C p.G842= Synonymous 21/28 - 1
19-2217071-A-G c.2526A>G p.G842= Synonymous 21/28 - 1
19-2217071-A-T c.2526A>T p.G842= Synonymous 21/28 - 1
19-2217072-G-T c.2527G>T p.E843* Nonsense 21/28 - 2
19-2217074-G-C c.2529G>C p.E843D Missense 21/28 - 1
19-2217074-G-T c.2529G>T p.E843D Missense 21/28 - 1
19-2217076-A-G c.2531A>G p.K844R Missense 21/28 - 1
19-2217081-AG-CT c.2536_2537inv p.S846L Missense 21/28 - 1
19-2217082-G-A c.2537G>A p.S846N Missense 21/28 - 1
19-2217084-G-A c.2539G>A p.E847K Missense 21/28 - 1
19-2217087-A-C c.2542A>C p.K848Q Missense 21/28 - 1
19-2217094-G-A c.2544+5G>A - IntronicSNV - 21/27 2
19-2217094-G-T c.2544+5G>T - IntronicSNV - 21/27 2
19-2217203-G-A c.2544+114G>A - IntronicSNV - 21/27 2
19-2217774-C-T c.2548C>T p.L850= Synonymous 22/28 - 1
19-2217776-G-A c.2550G>A p.L850= Synonymous 22/28 - 1
19-2217776-G-C c.2550G>C p.L850= Synonymous 22/28 - 1
19-2217776-G-T c.2550G>T p.L850= Synonymous 22/28 - 1
19-2217777-A-T c.2551A>T p.R851* Nonsense 22/28 - 1
19-2217781-A-G c.2555A>G p.E852G Missense 22/28 - 1
19-2217783-C-T c.2557C>T p.R853C Missense 22/28 - 2
19-2217784-CG-C c.2558del p.R853Pfs*215 Frameshift 22/28 - 1
19-2217785-C-T c.2559C>T p.R853= Synonymous 22/28 - 1
19-2217786-G-A c.2560G>A p.A854T Missense 22/28 - 5
19-2217789-T-C c.2563T>C p.Y855H Missense 22/28 - 1
19-2217796-G-A c.2570G>A p.S857N Missense 22/28 - 2
19-2217800-C-T c.2574C>T p.S858= Synonymous 22/28 - 1
19-2217801-G-A c.2575G>A p.G859R Missense 22/28 - 2
19-2217804-G-T c.2578G>T p.E860* Nonsense 22/28 - 1
19-2217809-C-T c.2583C>T p.L861= Synonymous 22/28 - 2
19-2217819-CT-GC c.2593_2594delinsGC p.L865A Missense 22/28 - 1
19-2217822-C-G c.2596C>G p.P866A Missense 22/28 - 1
19-2217825-AT-GC c.2599_2600delinsGC p.I867A Missense 22/28 - 3
19-2217828-AG-GC c.2602_2603delinsGC p.S868A Missense 22/28 - 1
19-2217829-G-A c.2603G>A p.S868N Missense 22/28 - 1
19-2217831-AT-GC c.2605_2606delinsGC p.I869A Missense 22/28 - 2
19-2217833-C-T c.2607C>T p.I869= Synonymous 22/28 - 1
19-2217834-C-G c.2608C>G p.P870A Missense 22/28 - 2
19-2217836-G-A c.2610G>A p.P870= Synonymous 22/28 - 1
19-2217837-CT-GC c.2611_2612delinsGC p.L871A Missense 22/28 - 1
19-2217840-AG-GC c.2614_2615delinsGC p.S872A Missense 22/28 - 1
19-2217843-A-G c.2617A>G p.T873A Missense 22/28 - 2
19-2217846-G-T c.2620G>T p.V874L Missense 22/28 - 2
19-2217847-T-C c.2621T>C p.V874A Missense 22/28 - 1
19-2217852-C-T c.2626C>T p.P876S Missense 22/28 - 1
19-2217865-C-T c.2639C>T p.P880L Missense 22/28 - 4
19-2217868-T-C c.2642T>C p.V881A Missense 22/28 - 1
19-2217871-G-A c.2645G>A p.S882N Missense 22/28 - 1
19-2217873-AT-GC c.2647_2648delinsGC p.I883A Missense 22/28 - 1
19-2217874-T-C c.2648T>C p.I883T Missense 22/28 - 2
19-2217878-C-A c.2652C>A p.P884= Synonymous 22/28 - 1
19-2217878-C-G c.2652C>G p.P884= Synonymous 22/28 - 1
19-2217878-C-T c.2652C>T p.P884= Synonymous 22/28 - 2
19-2217885-A-T c.2659A>T p.S887C Missense 22/28 - 3
19-2217887-C-T c.2661C>T p.S887= Synonymous 22/28 - 1
19-2217891-G-A c.2665G>A p.V889M Missense 22/28 - 1
19-2217896-G-A c.2670G>A p.L890= Synonymous 22/28 - 2
19-2217897-C-T c.2671C>T p.P891S Missense 22/28 - 2
19-2217902-C-T c.2676C>T p.S892= Synonymous 22/28 - 2
19-2217903-CGC-TGG c.2677_2679delinsTGG p.R893W Missense 22/28 - 1
19-2217903-C-T c.2677C>T p.R893C Missense 22/28 - 1
19-2217904-G-A c.2678G>A p.R893H Missense 22/28 - 3
19-2217908-C-A c.2682C>A p.A894= Synonymous 22/28 - 1
19-2217908-C-T c.2682C>T p.A894= Synonymous 22/28 - 1
19-2217915-G-T c.2689G>T p.A897S Missense 22/28 - 1
19-2217916-C-T c.2690C>T p.A897V Missense 22/28 - 2
19-2217918-G-A c.2691+1G>A - IntronicSNV - 22/27 2
19-2217999-C-T c.2691+82C>T - IntronicSNV - 22/27 1
19-2220107-AG-TA c.2692_2693delinsTA p.R898* Nonsense 23/28 - 1
19-2220112-C-T c.2697C>T p.S899= Synonymous 23/28 - 1
19-2220114-C-T c.2699C>T p.T900I Missense 23/28 - 1
19-2220117-C-T c.2702C>T p.P901L Missense 23/28 - 1
19-2220120-G-A c.2705G>A p.S902N Missense 23/28 - 1
19-2220121-T-C c.2706T>C p.S902= Synonymous 23/28 - 1
19-2220125-G-A c.2710G>A p.V904M Missense 23/28 - 2
19-2220125-G-T c.2710G>T p.V904L Missense 23/28 - 1
19-2220127-G-A c.2712G>A p.V904= Synonymous 23/28 - 3
19-2220127-G-C c.2712G>C p.V904= Synonymous 23/28 - 3
19-2220127-G-T c.2712G>T p.V904= Synonymous 23/28 - 4
19-2220131-C-A c.2716C>A p.Q906K Missense 23/28 - 1
19-2220136-C-A c.2721C>A p.P907= Synonymous 23/28 - 2
19-2220136-C-G c.2721C>G p.P907= Synonymous 23/28 - 2
19-2220136-C-T c.2721C>T p.P907= Synonymous 23/28 - 5
19-2220137-C-T c.2722C>T p.R908C Missense 23/28 - 1
19-2220138-G-A c.2723G>A p.R908H Missense 23/28 - 2
19-2220142-C-A c.2727C>A p.D909E Missense 23/28 - 1
19-2220147-C-T c.2732C>T p.S911L Missense 23/28 - 4
19-2220159-A-C c.2744A>C p.E915A Missense 23/28 - 1
19-2220174-C-G c.2759C>G p.A920G Missense 23/28 - 1
19-2220179-G-A c.2764G>A p.A922T Missense 23/28 - 1
19-2220186-G-C c.2771G>C p.G924A Missense 23/28 - 1
19-2220191-G-T c.2776G>T p.G926W Missense 23/28 - 1
19-2220195-G-A c.2780G>A p.S927N Missense 23/28 - 1
19-2220195-G-C c.2780G>C p.S927T Missense 23/28 - 1
19-2220209-C-A c.2794C>A p.L932M Missense 23/28 - 1
19-2220215-C-T c.2800C>T p.P934S Missense 23/28 - 1
19-2220217-C-A c.2802C>A p.P934= Synonymous 23/28 - 1
19-2220217-C-G c.2802C>G p.P934= Synonymous 23/28 - 1
19-2220217-C-T c.2802C>T p.P934= Synonymous 23/28 - 1
19-2220218-G-A c.2803G>A p.A935T Missense 23/28 - 2
19-2220218-G-T c.2803G>T p.A935S Missense 23/28 - 1
19-2220220-A-C c.2805A>C p.A935= Synonymous 23/28 - 1
19-2220220-A-G c.2805A>G p.A935= Synonymous 23/28 - 1
19-2220220-A-T c.2805A>T p.A935= Synonymous 23/28 - 1
19-2220720-G-C c.2806+499G>C - IntronicSNV - 23/27 2
19-2221792-T-C c.2807-183T>C - IntronicSNV - 23/27 3
19-2221892-C-A c.2807-83C>A - IntronicSNV - 23/27 1
19-2221975-G-T c.2807G>T p.G936V Missense 24/28 - 1
19-2221976-C-A c.2808C>A p.G936= Synonymous 24/28 - 1
19-2221980-T-C c.2812T>C p.S938P Missense 24/28 - 1
19-2221986-G-A c.2818G>A p.A940T Missense 24/28 - 3
19-2221989-G-C c.2821G>C p.G941R Missense 24/28 - 1
19-2221990-G-C c.2822G>C p.G941A Missense 24/28 - 1
19-2221991-C-T c.2823C>T p.G941= Synonymous 24/28 - 1
19-2221994-G-A c.2826G>A p.S942= Synonymous 24/28 - 2
19-2221994-G-C c.2826G>C p.S942= Synonymous 24/28 - 1
19-2221994-G-T c.2826G>T p.S942= Synonymous 24/28 - 2
19-2221993-CGGT-C c.2828_2830del p.V943del InFrameDeletion 24/28 - 1
19-2221999-C-G c.2831C>G p.A944G Missense 24/28 - 1
19-2222007-G-A c.2839G>A p.G947R Missense 24/28 - 1
19-2222010-G-A c.2842G>A p.A948T Missense 24/28 - 1
19-2222012-C-A c.2844C>A p.A948= Synonymous 24/28 - 2
19-2222012-C-G c.2844C>G p.A948= Synonymous 24/28 - 1
19-2222012-C-T c.2844C>T p.A948= Synonymous 24/28 - 2
19-2222017-C-T c.2849C>T p.A950V Missense 24/28 - 2
19-2222020-G-A c.2852G>A p.G951D Missense 24/28 - 1
19-2222027-G-A c.2859G>A p.P953= Synonymous 24/28 - 1
19-2222027-G-C c.2859G>C p.P953= Synonymous 24/28 - 1
19-2222027-G-T c.2859G>T p.P953= Synonymous 24/28 - 1
19-2222035-T-C c.2867T>C p.L956P Missense 24/28 - 1
19-2222040-C-G c.2872C>G p.P958A Missense 24/28 - 1
19-2222040-C-T c.2872C>T p.P958S Missense 24/28 - 1
19-2222043-G-A c.2875G>A p.G959R Missense 24/28 - 1
19-2222043-G-C c.2875G>C p.G959R Missense 24/28 - 1
19-2222043-G-T c.2875G>T p.G959* Nonsense 24/28 - 1
19-2222046-G-A c.2878G>A p.A960T Missense 24/28 - 1
19-2222048-C-G c.2880C>G p.A960= Synonymous 24/28 - 1
19-2222049-G-A c.2881G>A p.E961K Missense 24/28 - 2
19-2222052-C-T c.2884C>T p.P962S Missense 24/28 - 1
19-2222060-C-A c.2892C>A p.T964= Synonymous 24/28 - 2
19-2222060-C-G c.2892C>G p.T964= Synonymous 24/28 - 2
19-2222060-C-T c.2892C>T p.T964= Synonymous 24/28 - 2
19-2222063-G-C c.2895G>C p.L965F Missense 24/28 - 1
19-2222063-G-T c.2895G>T p.L965F Missense 24/28 - 1
19-2222066-T-C c.2898T>C p.D966= Synonymous 24/28 - 1
19-2222071-C-T c.2903C>T p.S968F Missense 24/28 - 1
19-2222078-C-T c.2910C>T p.S970= Synonymous 24/28 - 1
19-2222082-G-T c.2914G>T p.G972W Missense 24/28 - 1
19-2222088-C-T c.2920C>T p.L974F Missense 24/28 - 2
19-2222097-A-G c.2929A>G p.T977A Missense 24/28 - 1
19-2222098-CC-TG c.2930_2931delinsTG p.T977M Missense 24/28 - 1
19-2222098-C-G c.2930C>G p.T977S Missense 24/28 - 1
19-2222099-C-A c.2931C>A p.T977= Synonymous 24/28 - 2
19-2222099-C-G c.2931C>G p.T977= Synonymous 24/28 - 2
19-2222099-C-T c.2931C>T p.T977= Synonymous 24/28 - 5
19-2222100-G-A c.2932G>A p.V978M Missense 24/28 - 1
19-2222109-C-T c.2941C>T p.R981C Missense 24/28 - 1
19-2222110-G-A c.2942G>A p.R981H Missense 24/28 - 1
19-2222111-C-A c.2943C>A p.R981= Synonymous 24/28 - 1
19-2222111-C-G c.2943C>G p.R981= Synonymous 24/28 - 2
19-2222111-C-T c.2943C>T p.R981= Synonymous 24/28 - 1
19-2222112-AG-GC c.2944_2945delinsGC p.S982A Missense 24/28 - 1
19-2222113-G-A c.2945G>A p.S982N Missense 24/28 - 1
19-2222114-C-A c.2946C>A p.S982R Missense 24/28 - 1
19-2222119-C-T c.2951C>T p.T984M Missense 24/28 - 1
19-2222120-G-A c.2952G>A p.T984= Synonymous 24/28 - 1
19-2222120-G-C c.2952G>C p.T984= Synonymous 24/28 - 1
19-2222120-G-T c.2952G>T p.T984= Synonymous 24/28 - 3
19-2222130-C-G c.2962C>G p.P988A Missense 24/28 - 1
19-2222131-C-T c.2963C>T p.P988L Missense 24/28 - 1
19-2222132-C-T c.2964C>T p.P988= Synonymous 24/28 - 1
19-2222133-C-G c.2965C>G p.L989V Missense 24/28 - 1
19-2222134-T-G c.2966T>G p.L989R Missense 24/28 - 1
19-2222139-C-A c.2971C>A p.L991M Missense 24/28 - 1
19-2222151-C-T c.2983C>T p.R995W Missense 24/28 - 4
19-2222152-G-A c.2984G>A p.R995Q Missense 24/28 - 3
19-2222158-C-T c.2990C>T p.S997L Missense 24/28 - 4
19-2222159-G-A c.2991G>A p.S997= Synonymous 24/28 - 2
19-2222162-T-A c.2994T>A p.L998= Synonymous 24/28 - 1
19-2222162-T-C c.2994T>C p.L998= Synonymous 24/28 - 2
19-2222162-T-G c.2994T>G p.L998= Synonymous 24/28 - 1
19-2222163-C-T c.2995C>T p.P999S Missense 24/28 - 2
19-2222166-G-A c.2998G>A p.A1000T Missense 24/28 - 1
19-2222170-C-T c.3002C>T p.S1001F Missense 24/28 - 1
19-2222171-T-A c.3003T>A p.S1001= Synonymous 24/28 - 1
19-2222171-T-C c.3003T>C p.S1001= Synonymous 24/28 - 1
19-2222171-T-G c.3003T>G p.S1001= Synonymous 24/28 - 1
19-2222175-G-C c.3007G>C p.A1003P Missense 24/28 - 1
19-2222180-C-T c.3012C>T p.H1004= Synonymous 24/28 - 1
19-2222186-C-A c.3018C>A p.L1006= Synonymous 24/28 - 1
19-2222186-C-G c.3018C>G p.L1006= Synonymous 24/28 - 2
19-2222186-C-T c.3018C>T p.L1006= Synonymous 24/28 - 2
19-2222188-C-A c.3020C>A p.S1007Y Missense 24/28 - 1
19-2222191-C-G c.3023C>G p.S1008C Missense 24/28 - 2
19-2222192-C-A c.3024C>A p.S1008= Synonymous 24/28 - 1
19-2222192-C-G c.3024C>G p.S1008= Synonymous 24/28 - 1
19-2222192-C-T c.3024C>T p.S1008= Synonymous 24/28 - 1
19-2222193-A-T c.3025A>T p.S1009C Missense 24/28 - 1
19-2222194-G-T c.3026G>T p.S1009I Missense 24/28 - 1
19-2222197-C-T c.3029C>T p.P1010L Missense 24/28 - 2
19-2222198-C-A c.3030C>A p.P1010= Synonymous 24/28 - 1
19-2222198-C-G c.3030C>G p.P1010= Synonymous 24/28 - 1
19-2222198-C-T c.3030C>T p.P1010= Synonymous 24/28 - 3
19-2222199-C-T c.3031C>T p.R1011W Missense 24/28 - 3
19-2222208-G-A c.3040G>A p.G1014R Missense 24/28 - 1
19-2222208-G-C c.3040G>C p.G1014R Missense 24/28 - 1
19-2222214-G-A c.3046G>A p.A1016T Missense 24/28 - 1
19-2222214-G-T c.3046G>T p.A1016S Missense 24/28 - 2
19-2222217-C-T c.3049C>T p.Q1017* Nonsense 24/28 - 1
19-2222218-A-G c.3050A>G p.Q1017R Missense 24/28 - 1
19-2222220-G-A c.3052G>A p.G1018S Missense 24/28 - 2
19-2222221-G-A c.3053G>A p.G1018D Missense 24/28 - 1
19-2222226-TTG-ATC c.3058_3060delinsATC p.L1020I Missense 24/28 - 1
19-2222228-G-A c.3060G>A p.L1020= Synonymous 24/28 - 1
19-2222231-C-T c.3063C>T p.P1021= Synonymous 24/28 - 1
19-2222233-A-G c.3065A>G p.E1022G Missense 24/28 - 1
19-2222237-C-T c.3069C>T p.A1023= Synonymous 24/28 - 2
19-2222239-G-T c.3071G>T p.S1024I Missense 24/28 - 1
19-2222245-G-C c.3077G>C p.G1026A Missense 24/28 - 1
19-2222246-A-AG c.3079dup p.D1027Gfs*12 Frameshift 24/28 - 1
19-2222247-G-A c.3079G>A p.D1027N Missense 24/28 - 1
19-2222254-C-T c.3086C>T p.P1029L Missense 24/28 - 1
19-2222258-C-G c.3090C>G p.S1030= Synonymous 24/28 - 1
19-2222259-G-A c.3091G>A p.D1031N Missense 24/28 - 1
19-2222259-G-C c.3091G>C p.D1031H Missense 24/28 - 1
19-2222259-G-T c.3091G>T p.D1031Y Missense 24/28 - 1
19-2222262-T-C c.3094T>C p.S1032P Missense 24/28 - 1
19-2222263-C-A c.3095C>A p.S1032Y Missense 24/28 - 2
19-2222267-C-A c.3099C>A p.G1033= Synonymous 24/28 - 1
19-2222267-C-G c.3099C>G p.G1033= Synonymous 24/28 - 1
19-2222267-C-T c.3099C>T p.G1033= Synonymous 24/28 - 1
19-2222268-T-C c.3100T>C p.F1034L Missense 24/28 - 2
19-2222270-C-G c.3102C>G p.F1034L Missense 24/28 - 2
19-2222270-C-A c.3102C>A p.F1034L Missense 24/28 - 3
19-2222272-C-A c.3104C>A p.S1035* Nonsense 24/28 - 2
19-2222272-C-G c.3104C>G p.S1035* Nonsense 24/28 - 3
19-2222274-G-T c.3106G>T p.D1036Y Missense 24/28 - 1
19-2222277-C-T c.3109C>T p.P1037S Missense 24/28 - 2
19-2222289-G-A c.3121G>A p.A1041T Missense 24/28 - 1
19-2222291-CAAG-C c.3125_3127del p.K1042del InFrameDeletion 24/28 - 1
19-2222294-G-A c.3126G>A p.K1042= Synonymous 24/28 - 1
19-2222304-G-T c.3136G>T p.V1046L Missense 24/28 - 1
19-2222310-A-C c.3142A>C p.T1048P Missense 24/28 - 1
19-2222310-A-G c.3142A>G p.T1048A Missense 24/28 - 1
19-2222319-A-G c.3151A>G p.T1051A Missense 24/28 - 1
19-2222323-G-T c.3155G>T p.G1052V Missense 24/28 - 3
19-2222325-G-A c.3157G>A p.A1053T Missense 24/28 - 3
19-2222329-G-A c.3161G>A p.G1054D Missense 24/28 - 3
19-2222330-C-T c.3162C>T p.G1054= Synonymous 24/28 - 1
19-2222332-G-A c.3164G>A p.S1055N Missense 24/28 - 1
19-2222335-C-T c.3167C>T p.A1056V Missense 24/28 - 1
19-2222338-A-G c.3170A>G p.K1057R Missense 24/28 - 1
19-2222343-TC-GG c.3175_3176delinsGG p.S1059G Missense 24/28 - 1
19-2222344-C-T c.3176C>T p.S1059L Missense 24/28 - 2
19-2222347-C-T c.3179C>T p.P1060L Missense 24/28 - 3
19-2222353-G-C c.3185G>C p.S1062T Missense 24/28 - 1
19-2222359-A-G c.3191A>G p.H1064R Missense 24/28 - 1
19-2222361-A-C c.3193A>C p.S1065R Missense 24/28 - 1
19-2222363-C-A c.3195C>A p.S1065R Missense 24/28 - 1
19-2222363-C-G c.3195C>G p.S1065R Missense 24/28 - 1
19-2222363-C-T c.3195C>T p.S1065= Synonymous 24/28 - 1
19-2222364-C-G c.3196C>G p.P1066A Missense 24/28 - 1
19-2222367-C-T c.3199C>T p.L1067= Synonymous 24/28 - 3
19-2222368-T-C c.3200T>C p.L1067P Missense 24/28 - 1
19-2222369-G-A c.3201G>A p.L1067= Synonymous 24/28 - 2
19-2222369-G-C c.3201G>C p.L1067= Synonymous 24/28 - 2
19-2222369-G-T c.3201G>T p.L1067= Synonymous 24/28 - 2
19-2222371-CC-TG c.3203_3204delinsTG p.T1068M Missense 24/28 - 1
19-2222371-C-T c.3203C>T p.T1068I Missense 24/28 - 2
19-2222370-AC-A c.3204del p.A1069Pfs*31 Frameshift 24/28 - 2
19-2222373-G-C c.3205G>C p.A1069P Missense 24/28 - 1
19-2222377-G-A c.3209G>A p.S1070N Missense 24/28 - 2
19-2222378-C-T c.3210C>T p.S1070= Synonymous 24/28 - 1
19-2222379-G-C c.3211G>C p.A1071P Missense 24/28 - 1
19-2222382-C-T c.3214C>T p.R1072C Missense 24/28 - 3
19-2222383-G-A c.3215G>A p.R1072H Missense 24/28 - 4
19-2222383-G-T c.3215G>T p.R1072L Missense 24/28 - 2
19-2222386-G-C c.3218G>C p.G1073A Missense 24/28 - 1
19-2222391-T-A c.3223T>A p.C1075S Missense 24/28 - 1
19-2222396-G-A c.3228G>A p.V1076= Synonymous 24/28 - 1
19-2222396-G-C c.3228G>C p.V1076= Synonymous 24/28 - 1
19-2222396-G-T c.3228G>T p.V1076= Synonymous 24/28 - 1
19-2222398-C-T c.3230C>T p.P1077L Missense 24/28 - 1
19-2222400-AG-TT c.3232_3233delinsTT p.S1078F Missense 24/28 - 1
19-2222403-C-A c.3235C>A p.H1079N Missense 24/28 - 1
19-2222406-G-A c.3238G>A p.G1080R Missense 24/28 - 1
19-2222406-G-C c.3238G>C p.G1080R Missense 24/28 - 1
19-2222406-G-T c.3238G>T p.G1080W Missense 24/28 - 1
19-2222416-G-T c.3248G>T p.S1083I Missense 24/28 - 1
19-2222419-G-A c.3251G>A p.R1084H Missense 24/28 - 2
19-2222423-G-C c.3255G>C p.R1085S Missense 24/28 - 2
19-2222423-G-T c.3255G>T p.R1085S Missense 24/28 - 3
19-2222424-C-T c.3256C>T p.R1086C Missense 24/28 - 4
19-2222425-G-A c.3257G>A p.R1086H Missense 24/28 - 2
19-2222425-GC-AA c.3257_3258delinsAA p.R1086Q Missense 24/28 - 1
19-2222427-G-A c.3259G>A p.G1087S Missense 24/28 - 1
19-2222427-G-T c.3259G>T p.G1087C Missense 24/28 - 2
19-2222429-C-T c.3261C>T p.G1087= Synonymous 24/28 - 1
19-2222428-GC-G c.3262del p.R1088Gfs*12 Frameshift 24/28 - 1
19-2222430-C-T c.3262C>T p.R1088W Missense 24/28 - 1
19-2222431-G-A c.3263G>A p.R1088Q Missense 24/28 - 1
19-2222434-G-A c.3266G>A p.R1089Q Missense 24/28 - 1
19-2222438-G-C c.3270G>C p.K1090N Missense 24/28 - 1
19-2222438-G-T c.3270G>T p.K1090N Missense 24/28 - 1
19-2222439-C-T c.3271C>T p.R1091* Nonsense 24/28 - 1
19-2222451-G-A c.3283G>A p.G1095R Missense 24/28 - 1
19-2222449-CG-C c.3285del p.T1096Rfs*4 Frameshift 24/28 - 1
19-2222453-G-T c.3285G>T p.G1095= Synonymous 24/28 - 1
19-2222455-C-T c.3287C>T p.T1096M Missense 24/28 - 2
19-2222458-C-T c.3290C>T p.P1097L Missense 24/28 - 2
19-2222460-A-C c.3292A>C p.S1098R Missense 24/28 - 1
19-2222462-C-A c.3294C>A p.S1098R Missense 24/28 - 1
19-2222462-C-G c.3294C>G p.S1098R Missense 24/28 - 1
19-2222462-C-T c.3294C>T p.S1098= Synonymous 24/28 - 1
19-2222467-G-T c.3299G>T p.S1100I Missense 24/28 - 1
19-2222470-C-T c.3302C>T p.A1101V Missense 24/28 - 1
19-2222473-G-A c.3305G>A p.G1102D Missense 24/28 - 1
19-2222473-G-T c.3305G>T p.G1102V Missense 24/28 - 1
19-2222475-G-A c.3307G>A p.V1103M Missense 24/28 - 1
19-2222480-C-A c.3312C>A p.S1104= Synonymous 24/28 - 2
19-2222480-C-G c.3312C>G p.S1104= Synonymous 24/28 - 2
19-2222480-C-T c.3312C>T p.S1104= Synonymous 24/28 - 6
19-2222481-C-T c.3313C>T p.P1105S Missense 24/28 - 2
19-2222482-C-T c.3314C>T p.P1105L Missense 24/28 - 1
19-2222483-CA-C c.3317del p.K1106Sfs*45 Frameshift 24/28 - 1
19-2222487-C-T c.3319C>T p.R1107C Missense 24/28 - 1
19-2222490-CGA-TGG c.3322_3324delinsTGG p.R1108W Missense 24/28 - 1
19-2222500-C-T c.3332C>T p.P1111L Missense 24/28 - 1
19-2222502-T-A c.3334T>A p.S1112T Missense 24/28 - 1
19-2222505-G-A c.3337G>A p.V1113I Missense 24/28 - 1
19-2222507-C-A c.3339C>A p.V1113= Synonymous 24/28 - 1
19-2222507-C-G c.3339C>G p.V1113= Synonymous 24/28 - 1
19-2222507-C-T c.3339C>T p.V1113= Synonymous 24/28 - 3
19-2222508-G-A c.3340G>A p.A1114T Missense 24/28 - 2
19-2222509-C-T c.3341C>T p.A1114V Missense 24/28 - 3
19-2222517-T-C c.3349T>C p.F1117L Missense 24/28 - 1
19-2222519-C-A c.3351C>A p.F1117L Missense 24/28 - 1
19-2222519-C-G c.3351C>G p.F1117L Missense 24/28 - 1
19-2222514-CT-C c.3350del p.F1117Sfs*34 Frameshift 24/28 - 1
19-2222523-C-T c.3355C>T p.Q1119* Nonsense 24/28 - 2
19-2222526-C-A c.3358C>A p.P1120T Missense 24/28 - 1
19-2222526-C-T c.3358C>T p.P1120S Missense 24/28 - 1
19-2222531-G-A c.3363G>A p.S1121= Synonymous 24/28 - 2
19-2222531-G-C c.3363G>C p.S1121= Synonymous 24/28 - 2
19-2222531-G-T c.3363G>T p.S1121= Synonymous 24/28 - 2
19-2222533-G-GA c.3365_3366insA p.S1123Vfs*11 Frameshift 24/28 - 1
19-2222537-TC-T c.3373del p.L1125Sfs*26 Frameshift 24/28 - 1
19-2222543-C-A c.3375C>A p.L1125= Synonymous 24/28 - 1
19-2222543-C-G c.3375C>G p.L1125= Synonymous 24/28 - 1
19-2222543-C-T c.3375C>T p.L1125= Synonymous 24/28 - 2
19-2222549-C-T c.3381C>T p.L1127= Synonymous 24/28 - 1
19-2222553-T-G c.3385T>G p.S1129A Missense 24/28 - 2
19-2222554-C-T c.3386C>T p.S1129F Missense 24/28 - 2
19-2222555-C-CA c.3388dup p.M1130Nfs*4 SpliceDonorInsertion 24/28 - 1
19-2222558-G-A c.3390G>A p.M1130I Missense 24/28 - 1
19-2222654-T-C c.3390+96T>C - IntronicSNV - 24/27 1
19-2222893-CA-C c.3390+344del - IntronicDeletion - 24/27 1
19-2223239-G-A c.3391-41G>A - IntronicSNV - 24/27 1
19-2223240-G-A c.3391-40G>A - IntronicSNV - 24/27 1
19-2223275-C-T c.3391-5C>T - IntronicSNV - 24/27 4
19-2223282-C-T c.3393C>T p.V1131= Synonymous 25/28 - 2
19-2223284-G-A c.3395G>A p.S1132N Missense 25/28 - 2
19-2223288-C-A c.3399C>A p.N1133K Missense 25/28 - 2
19-2223288-C-T c.3399C>T p.N1133= Synonymous 25/28 - 2
19-2223291-C-A c.3402C>A p.I1134= Synonymous 25/28 - 1
19-2223291-C-T c.3402C>T p.I1134= Synonymous 25/28 - 1
19-2223294-C-G c.3405C>G p.N1135K Missense 25/28 - 1
19-2223299-C-T c.3410C>T p.P1137L Missense 25/28 - 1
19-2223300-C-G c.3411C>G p.P1137= Synonymous 25/28 - 1
19-2223306-G-C c.3417G>C p.E1139D Missense 25/28 - 1
19-2223306-G-T c.3417G>T p.E1139D Missense 25/28 - 1
19-2223309-T-A c.3420T>A p.I1140= Synonymous 25/28 - 1
19-2223309-T-C c.3420T>C p.I1140= Synonymous 25/28 - 1
19-2223311-C-T c.3422C>T p.T1141I Missense 25/28 - 3
19-2223314-C-A c.3425C>A p.A1142D Missense 25/28 - 1
19-2223316-A-C c.3427A>C p.I1143L Missense 25/28 - 3
19-2223316-A-G c.3427A>G p.I1143V Missense 25/28 - 1
19-2223320-C-T c.3431C>T p.S1144L Missense 25/28 - 4
19-2223321-G-A c.3432G>A p.S1144= Synonymous 25/28 - 2
19-2223321-G-C c.3432G>C p.S1144= Synonymous 25/28 - 2
19-2223321-G-T c.3432G>T p.S1144= Synonymous 25/28 - 2
19-2223326-C-T c.3437C>T p.P1146L Missense 25/28 - 4
19-2223327-G-A c.3438G>A p.P1146= Synonymous 25/28 - 9
19-2223331-A-T c.3442A>T p.T1148S Missense 25/28 - 1
19-2223332-C-G c.3443C>G p.T1148S Missense 25/28 - 1
19-2223337-C-T c.3448C>T p.L1150= Synonymous 25/28 - 1
19-2223339-G-A c.3450G>A p.L1150= Synonymous 25/28 - 1
19-2223339-G-C c.3450G>C p.L1150= Synonymous 25/28 - 1
19-2223339-G-T c.3450G>T p.L1150= Synonymous 25/28 - 1
19-2223343-AG-CC c.3454_3455delinsCC p.S1152P Missense 25/28 - 1
19-2223344-G-A c.3455G>A p.S1152N Missense 25/28 - 2
19-2223348-C-A c.3459C>A p.S1153= Synonymous 25/28 - 1
19-2223348-C-G c.3459C>G p.S1153= Synonymous 25/28 - 1
19-2223348-C-T c.3459C>T p.S1153= Synonymous 25/28 - 1
19-2223349-C-T c.3460C>T p.P1154S Missense 25/28 - 1
19-2223355-C-T c.3466C>T p.P1156S Missense 25/28 - 4
19-2223359-A-C c.3470A>C p.Y1157S Missense 25/28 - 2
19-2223360-C-T c.3471C>T p.Y1157= Synonymous 25/28 - 1
19-2223362-A-G c.3473A>G p.Q1158R Missense 25/28 - 3
19-2223364-G-C c.3475G>C p.D1159H Missense 25/28 - 2
19-2223378-C-A c.3489C>A p.P1163= Synonymous 25/28 - 1
19-2223378-C-G c.3489C>G p.P1163= Synonymous 25/28 - 1
19-2223378-C-T c.3489C>T p.P1163= Synonymous 25/28 - 2
19-2223380-C-T c.3491C>T p.P1164L Missense 25/28 - 2
19-2223375-GC-G c.3492del p.V1165Cfs*8 Frameshift 25/28 - 1
19-2223375-G-GC c.3492dup p.V1165Rfs*28 Frameshift 25/28 - 1
19-2223381-C-A c.3492C>A p.P1164= Synonymous 25/28 - 1
19-2223381-C-G c.3492C>G p.P1164= Synonymous 25/28 - 1
19-2223381-C-T c.3492C>T p.P1164= Synonymous 25/28 - 2
19-2223388-A-C c.3499A>C p.K1167Q Missense 25/28 - 1
19-2223389-A-G c.3500A>G p.K1167R Missense 25/28 - 1
19-2223394-G-C c.3505G>C p.E1169Q Missense 25/28 - 1
19-2223398-G-A c.3509G>A p.R1170Q Missense 25/28 - 4
19-2223401-C-G c.3512C>G p.P1171R Missense 25/28 - 1
19-2223404-T-A c.3515T>A p.L1172Q Missense 25/28 - 1
19-2223409-C-A c.3520C>A p.Q1174K Missense 25/28 - 1
19-2223416-A-G c.3527A>G p.N1176S Missense 25/28 - 1
19-2223421-G-A c.3532G>A p.A1178T Missense 25/28 - 1
19-2223422-C-T c.3533C>T p.A1178V Missense 25/28 - 1
19-2223426-C-G c.3537C>G p.H1179Q Missense 25/28 - 2
19-2223431-C-T c.3542C>T p.S1181F Missense 25/28 - 1
19-2223434-C-A c.3545C>A p.P1182Q Missense 25/28 - 1
19-2223434-C-T c.3545C>T p.P1182L Missense 25/28 - 2
19-2223439-A-G c.3550A>G p.T1184A Missense 25/28 - 1
19-2223443-CA-TT c.3554_3555delinsTT p.S1185F Missense 25/28 - 1
19-2223443-C-G c.3554C>G p.S1185* Nonsense 25/28 - 1
19-2223445-G-T c.3556G>T p.D1186Y Missense 25/28 - 2
19-2223454-C-T c.3565C>T p.P1189S Missense 25/28 - 1
19-2223457-G-A c.3568G>A p.G1190S Missense 25/28 - 1
19-2223457-G-C c.3568G>C p.G1190R Missense 25/28 - 1
19-2223459-C-T c.3570C>T p.G1190= Synonymous 25/28 - 3
19-2223461-CT-AA c.3572_3573delinsAA p.S1191* Nonsense 25/28 - 1
19-2223463-G-A c.3574G>A p.E1192K Missense 25/28 - 3
19-2223465-G-A c.3576G>A p.E1192= Synonymous 25/28 - 2
19-2223466-G-A c.3577G>A p.D1193N Missense 25/28 - 1
19-2223485-G-A c.3596G>A p.R1199Q Missense 25/28 - 2
19-2224387-A-C c.3596+902A>C - IntronicSNV - 25/27 1
19-2225386-G-GA c.3598dup p.I1200Nfs*2 SpliceAcceptorInsertion 26/28 - 1
19-2225389-T-A c.3599T>A p.I1200N Missense 26/28 - 1
19-2225388-A-AT c.3600dup p.E1201* Nonsense 26/28 - 1
19-2225391-G-A c.3601G>A p.E1201K Missense 26/28 - 1
19-2225391-G-C c.3601G>C p.E1201Q Missense 26/28 - 1
19-2225392-A-T c.3602A>T p.E1201V Missense 26/28 - 1
19-2225393-G-C c.3603G>C p.E1201D Missense 26/28 - 2
19-2225393-G-T c.3603G>T p.E1201D Missense 26/28 - 1
19-2225395-AG-A c.3605del p.R1202Kfs*8 Frameshift 26/28 - 1
19-2225395-G-A c.3605G>A p.R1202K Missense 26/28 - 1
19-2225398-A-T c.3608A>T p.K1203I Missense 26/28 - 1
19-2225399-A-C c.3609A>C p.K1203N Missense 26/28 - 2
19-2225399-A-T c.3609A>T p.K1203N Missense 26/28 - 1
19-2225395-GA-G c.3610del p.I1204Lfs*6 Frameshift 26/28 - 1
19-2225403-G-A c.3613G>A p.A1205T Missense 26/28 - 1
19-2225407-C-A c.3617C>A p.T1206K Missense 26/28 - 1
19-2225413-C-T c.3623C>T p.S1208F Missense 26/28 - 4
19-2225414-C-G c.3624C>G p.S1208= Synonymous 26/28 - 1
19-2225414-C-T c.3624C>T p.S1208= Synonymous 26/28 - 2
19-2225417-A-C c.3627A>C p.L1209F Missense 26/28 - 1
19-2225417-A-T c.3627A>T p.L1209F Missense 26/28 - 1
19-2225424-A-G c.3634A>G p.K1212E Missense 26/28 - 1
19-2225428-C-G c.3638C>G p.S1213C Missense 26/28 - 1
19-2225428-C-T c.3638C>T p.S1213F Missense 26/28 - 3
19-2225429-T-A c.3639T>A p.S1213= Synonymous 26/28 - 1
19-2225429-T-C c.3639T>C p.S1213= Synonymous 26/28 - 1
19-2225429-T-G c.3639T>G p.S1213= Synonymous 26/28 - 1
19-2225430-C-G c.3640C>G p.P1214A Missense 26/28 - 1
19-2225430-C-T c.3640C>T p.P1214S Missense 26/28 - 1
19-2225435-G-A c.3645G>A p.P1215= Synonymous 26/28 - 5
19-2225435-G-C c.3645G>C p.P1215= Synonymous 26/28 - 3
19-2225435-G-T c.3645G>T p.P1215= Synonymous 26/28 - 4
19-2225439-A-C c.3649A>C p.T1217P Missense 26/28 - 1
19-2225444-G-GT c.3654_3655insT p.E1219* Nonsense 26/28 - 1
19-2226188-G-A c.3668G>A p.G1223D Missense 27/28 - 1
19-2226194-C-G c.3674C>G p.A1225G Missense 27/28 - 2
19-2226194-C-T c.3674C>T p.A1225V Missense 27/28 - 2
19-2226198-A-C c.3678A>C p.G1226= Synonymous 27/28 - 2
19-2226198-A-G c.3678A>G p.G1226= Synonymous 27/28 - 2
19-2226198-A-T c.3678A>T p.G1226= Synonymous 27/28 - 2
19-2226199-AG-CA c.3679_3680delinsCA p.R1227Q Missense 27/28 - 2
19-2226203-A-G c.3683A>G p.K1228R Missense 27/28 - 1
19-2226205-C-T c.3685C>T p.P1229S Missense 27/28 - 3
19-2226207-C-T c.3687C>T p.P1229= Synonymous 27/28 - 1
19-2226209-C-T c.3689C>T p.A1230V Missense 27/28 - 2
19-2226210-G-A c.3690G>A p.A1230= Synonymous 27/28 - 1
19-2226210-G-C c.3690G>C p.A1230= Synonymous 27/28 - 1
19-2226210-G-T c.3690G>T p.A1230= Synonymous 27/28 - 1
19-2226211-C-T c.3691C>T p.P1231S Missense 27/28 - 1
19-2226217-G-T c.3697G>T p.G1233C Missense 27/28 - 1
19-2226219-C-G c.3699C>G p.G1233= Synonymous 27/28 - 1
19-2226219-C-T c.3699C>T p.G1233= Synonymous 27/28 - 1
19-2226220-G-T c.3700G>T p.E1234* Nonsense 27/28 - 2
19-2226231-T-A c.3711T>A p.N1237K Missense 27/28 - 1
19-2226231-T-G c.3711T>G p.N1237K Missense 27/28 - 1
19-2226238-A-T c.3718A>T p.K1240* Nonsense 27/28 - 1
19-2226243-G-A c.3723G>A p.W1241* Nonsense 27/28 - 2
19-2226246-G-C c.3726G>C p.K1242N Missense 27/28 - 1
19-2226246-G-T c.3726G>T p.K1242N Missense 27/28 - 1
19-2226254-T-G c.3734T>G p.F1245C Missense 27/28 - 1
19-2226259-C-T c.3739C>T p.P1247S Missense 27/28 - 1
19-2226264-C-T c.3744C>T p.I1248= Synonymous 27/28 - 1
19-2226268-G-A c.3748G>A p.D1250N Missense 27/28 - 1
19-2226268-G-T c.3748G>T p.D1250Y Missense 27/28 - 1
19-2226269-A-G c.3749A>G p.D1250G Missense 27/28 - 4
19-2226273-C-T c.3753C>T p.I1251= Synonymous 27/28 - 3
19-2226274-G-A c.3754G>A p.G1252S Missense 27/28 - 1
19-2226275-G-C c.3755G>C p.G1252A Missense 27/28 - 1
19-2226275-G-T c.3755G>T p.G1252V Missense 27/28 - 1
19-2226280-G-A c.3760G>A p.A1254T Missense 27/28 - 2
19-2226285-G-A c.3765G>A p.K1255= Synonymous 27/28 - 2
19-2226285-G-C c.3765G>C p.K1255N Missense 27/28 - 1
19-2226285-G-T c.3765G>T p.K1255N Missense 27/28 - 2
19-2226290-C-T c.3770C>T p.A1257V Missense 27/28 - 2
19-2226292-G-A c.3772G>A p.D1258N Missense 27/28 - 5
19-2226298-C-T c.3778C>T p.P1260S Missense 27/28 - 1
19-2226299-C-A c.3779C>A p.P1260Q Missense 27/28 - 1
19-2226301-C-T c.3781C>T p.L1261= Synonymous 27/28 - 1
19-2226303-G-A c.3783G>A p.L1261= Synonymous 27/28 - 1
19-2226303-G-C c.3783G>C p.L1261= Synonymous 27/28 - 1
19-2226303-G-T c.3783G>T p.L1261= Synonymous 27/28 - 1
19-2226312-C-T c.3792C>T p.S1264= Synonymous 27/28 - 1
19-2226315-C-A c.3795C>A p.S1265= Synonymous 27/28 - 1
19-2226315-C-G c.3795C>G p.S1265= Synonymous 27/28 - 1
19-2226315-C-T c.3795C>T p.S1265= Synonymous 27/28 - 1
19-2226316-G-A c.3796G>A p.A1266T Missense 27/28 - 2
19-2226318-C-A c.3798C>A p.A1266= Synonymous 27/28 - 1
19-2226318-C-G c.3798C>G p.A1266= Synonymous 27/28 - 1
19-2226318-C-T c.3798C>T p.A1266= Synonymous 27/28 - 1
19-2226333-C-A c.3813C>A p.S1271= Synonymous 27/28 - 1
19-2226333-C-G c.3813C>G p.S1271= Synonymous 27/28 - 1
19-2226333-C-T c.3813C>T p.S1271= Synonymous 27/28 - 4
19-2226342-G-A c.3822G>A p.T1274= Synonymous 27/28 - 1
19-2226346-C-T c.3826C>T p.R1276W Missense 27/28 - 1
19-2226347-G-A c.3827G>A p.R1276Q Missense 27/28 - 5
19-2226350-C-T c.3830C>T p.P1277L Missense 27/28 - 2
19-2226354-C-A c.3834C>A p.A1278= Synonymous 27/28 - 1
19-2226354-C-G c.3834C>G p.A1278= Synonymous 27/28 - 1
19-2226354-C-T c.3834C>T p.A1278= Synonymous 27/28 - 1
19-2226357-G-A c.3837G>A p.L1279= Synonymous 27/28 - 1
19-2226358-G-A c.3838G>A p.E1280K Missense 27/28 - 1
19-2226361-G-A c.3841G>A p.E1281K Missense 27/28 - 1
19-2226361-G-C c.3841G>C p.E1281Q Missense 27/28 - 1
19-2226363-G-C c.3843G>C p.E1281D Missense 27/28 - 1
19-2226372-C-G c.3852C>G p.A1284= Synonymous 27/28 - 1
19-2226373-G-A c.3853G>A p.D1285N Missense 27/28 - 4
19-2226382-C-T c.3862C>T p.L1288= Synonymous 27/28 - 1
19-2226384-G-A c.3864G>A p.L1288= Synonymous 27/28 - 1
19-2226384-G-C c.3864G>C p.L1288= Synonymous 27/28 - 1
19-2226384-G-T c.3864G>T p.L1288= Synonymous 27/28 - 1
19-2226385-G-A c.3865G>A p.A1289T Missense 27/28 - 1
19-2226386-C-T c.3866C>T p.A1289V Missense 27/28 - 1
19-2226391-C-T c.3871C>T p.H1291Y Missense 27/28 - 1
19-2226396-C-T c.3876C>T p.P1292= Synonymous 27/28 - 3
19-2226404-G-C c.3884G>C p.G1295A Missense 27/28 - 1
19-2226409-C-T c.3889C>T p.P1297S Missense 27/28 - 1
19-2226410-C-T c.3890C>T p.P1297L Missense 27/28 - 2
19-2226411-C-A c.3891C>A p.P1297= Synonymous 27/28 - 1
19-2226411-C-G c.3891C>G p.P1297= Synonymous 27/28 - 1
19-2226411-C-T c.3891C>T p.P1297= Synonymous 27/28 - 1
19-2226413-G-A c.3893G>A p.G1298D Missense 27/28 - 1
19-2226416-C-T c.3896C>T p.S1299F Missense 27/28 - 1
19-2226422-C-G c.3902C>G p.S1301W Missense 27/28 - 1
19-2226422-C-T c.3902C>T p.S1301L Missense 27/28 - 3
19-2226423-G-T c.3903G>T p.S1301= Synonymous 27/28 - 1
19-2226422-CG-C c.3907del p.A1303Lfs*24 Frameshift 27/28 - 2
19-2226432-C-T c.3912C>T p.D1304= Synonymous 27/28 - 1
19-2226433-G-A c.3913G>A p.G1305R Missense 27/28 - 5
19-2226433-G-C c.3913G>C p.G1305R Missense 27/28 - 1
19-2226443-C-T c.3923C>T p.P1308L Missense 27/28 - 1
19-2226458-C-T c.3938C>T p.A1313V Missense 27/28 - 1
19-2226463-G-A c.3943G>A p.G1315S Missense 27/28 - 1
19-2226470-C-T c.3950C>T p.T1317I Missense 27/28 - 1
19-2226475-G-A c.3955G>A p.G1319S Missense 27/28 - 2
19-2226476-G-T c.3956G>T p.G1319V Missense 27/28 - 1
19-2226478-G-A c.3958G>A p.G1320R Missense 27/28 - 1
19-2226479-G-A c.3959G>A p.G1320E Missense 27/28 - 2
19-2226479-G-C c.3959G>C p.G1320A Missense 27/28 - 3
19-2226480-G-T c.3960G>T p.G1320= Synonymous 27/28 - 1
19-2226489-C-G c.3969C>G p.A1323= Synonymous 27/28 - 1
19-2226489-C-T c.3969C>T p.A1323= Synonymous 27/28 - 1
19-2226490-G-A c.3970G>A p.A1324T Missense 27/28 - 2
19-2226517-G-A c.3997G>A p.D1333N Missense 27/28 - 2
19-2226522-T-A c.4002T>A p.G1334= Synonymous 27/28 - 2
19-2226522-T-C c.4002T>C p.G1334= Synonymous 27/28 - 3
19-2226522-T-G c.4002T>G p.G1334= Synonymous 27/28 - 2
19-2226523-G-A c.4003G>A p.A1335T Missense 27/28 - 1
19-2226523-G-C c.4003G>C p.A1335P Missense 27/28 - 1
19-2226524-C-A c.4004C>A p.A1335D Missense 27/28 - 1
19-2226529-C-G c.4009C>G p.L1337V Missense 27/28 - 2
19-2226535-C-A c.4015C>A p.H1339N Missense 27/28 - 1
19-2226539-A-C c.4019A>C p.K1340T Missense 27/28 - 1
19-2226551-C-T c.4031C>T p.A1344V Missense 27/28 - 1
19-2226552-G-A c.4032G>A p.A1344= Synonymous 27/28 - 2
19-2226552-G-C c.4032G>C p.A1344= Synonymous 27/28 - 1
19-2226552-G-T c.4032G>T p.A1344= Synonymous 27/28 - 1
19-2226556-G-T c.4036G>T p.G1346C Missense 27/28 - 1
19-2226559-C-G c.4039C>G p.L1347V Missense 27/28 - 1
19-2226566-C-T c.4046C>T p.S1349F Missense 27/28 - 2
19-2226569-C-T c.4049C>T p.P1350L Missense 27/28 - 2
19-2226571-C-T c.4051C>T p.L1351= Synonymous 27/28 - 1
19-2226573-G-A c.4053G>A p.L1351= Synonymous 27/28 - 1
19-2226573-G-C c.4053G>C p.L1351= Synonymous 27/28 - 1
19-2226573-G-T c.4053G>T p.L1351= Synonymous 27/28 - 1
19-2226581-C-T c.4061C>T p.P1354L Missense 27/28 - 1
19-2226584-C-G c.4064C>G p.S1355W Missense 27/28 - 1
19-2226585-G-A c.4065G>A p.S1355= Synonymous 27/28 - 1
19-2226585-G-C c.4065G>C p.S1355= Synonymous 27/28 - 1
19-2226585-G-T c.4065G>T p.S1355= Synonymous 27/28 - 1
19-2226589-C-T c.4069C>T p.R1357C Missense 27/28 - 1
19-2226591-C-A c.4071C>A p.R1357= Synonymous 27/28 - 1
19-2226591-C-G c.4071C>G p.R1357= Synonymous 27/28 - 1
19-2226591-C-T c.4071C>T p.R1357= Synonymous 27/28 - 3
19-2226592-G-A c.4072G>A p.G1358S Missense 27/28 - 1
19-2226593-G-C c.4073G>C p.G1358A Missense 27/28 - 1
19-2226597-G-C c.4077G>C p.K1359N Missense 27/28 - 1
19-2226597-G-T c.4077G>T p.K1359N Missense 27/28 - 1
19-2226600-G-C c.4080G>C p.E1360D Missense 27/28 - 1
19-2226600-G-T c.4080G>T p.E1360D Missense 27/28 - 1
19-2226610-G-A c.4090G>A p.A1364T Missense 27/28 - 2
19-2226612-C-A c.4092C>A p.A1364= Synonymous 27/28 - 1
19-2226612-C-G c.4092C>G p.A1364= Synonymous 27/28 - 1
19-2226612-C-T c.4092C>T p.A1364= Synonymous 27/28 - 1
19-2226614-A-C c.4094A>C p.N1365T Missense 27/28 - 1
19-2226617-C-T c.4097C>T p.P1366L Missense 27/28 - 1
19-2226617-CT-AA c.4097_4098delinsAA p.P1366Q Missense 27/28 - 1
19-2226617-C-CT c.4100dup p.L1368Pfs*170 Frameshift 27/28 - 1
19-2226627-C-T c.4107C>T p.S1369= Synonymous 27/28 - 2
19-2226634-C-T c.4114C>T p.Q1372* Nonsense 27/28 - 1
19-2226637-C-A c.4117C>A p.L1373M Missense 27/28 - 2
19-2226655-C-A c.4135C>A p.L1379M Missense 27/28 - 6
19-2226661-G-T c.4141G>T p.G1381C Missense 27/28 - 1
19-2226663-C-A c.4143C>A p.G1381= Synonymous 27/28 - 1
19-2226663-C-G c.4143C>G p.G1381= Synonymous 27/28 - 1
19-2226663-C-T c.4143C>T p.G1381= Synonymous 27/28 - 3
19-2226664-G-A c.4144G>A p.E1382K Missense 27/28 - 2
19-2226668-G-A c.4148G>A p.G1383D Missense 27/28 - 1
19-2226673-C-T c.4153C>T p.R1385C Missense 27/28 - 3
19-2226675-C-T c.4155C>T p.R1385= Synonymous 27/28 - 2
19-2226676-G-A c.4156G>A p.G1386S Missense 27/28 - 29
19-2226676-G-C c.4156G>C p.G1386R Missense 27/28 - 6
19-2226677-G-A c.4157G>A p.G1386D Missense 27/28 - 1
19-2226678-C-A c.4158C>A p.G1386= Synonymous 27/28 - 2
19-2226678-C-G c.4158C>G p.G1386= Synonymous 27/28 - 2
19-2226678-C-T c.4158C>T p.G1386= Synonymous 27/28 - 2
19-2226681-G-T c.4161G>T p.K1387N Missense 27/28 - 1
19-2226686-C-T c.4166C>T p.A1389V Missense 27/28 - 1
19-2226689-G-C c.4169G>C p.G1390A Missense 27/28 - 1
19-2226694-G-A c.4174G>A p.G1392S Missense 27/28 - 3
19-2226697-G-A c.4177G>A p.G1393S Missense 27/28 - 1
19-2226697-G-T c.4177G>T p.G1393C Missense 27/28 - 1
19-2226698-G-A c.4178G>A p.G1393D Missense 27/28 - 1
19-2226704-C-T c.4184C>T p.P1395L Missense 27/28 - 1
19-2226705-G-A c.4185G>A p.P1395= Synonymous 27/28 - 2
19-2226707-T-C c.4187T>C p.L1396P Missense 27/28 - 1
19-2226706-C-T c.4186C>T p.L1396= Synonymous 27/28 - 1
19-2226708-G-A c.4188G>A p.L1396= Synonymous 27/28 - 1
19-2226708-G-C c.4188G>C p.L1396= Synonymous 27/28 - 1
19-2226708-G-T c.4188G>T p.L1396= Synonymous 27/28 - 1
19-2226710-G-T c.4190G>T p.C1397F Missense 27/28 - 1
19-2226712-G-A c.4192G>A p.G1398R Missense 27/28 - 1
19-2226712-G-C c.4192G>C p.G1398R Missense 27/28 - 1
19-2226713-G-C c.4193G>C p.G1398A Missense 27/28 - 1
19-2226716-C-G c.4196C>G p.P1399R Missense 27/28 - 1
19-2226719-C-T c.4199C>T p.T1400M Missense 27/28 - 1
19-2226721-G-T c.4201G>T p.D1401Y Missense 27/28 - 1
19-2226723-C-G c.4203C>G p.D1401E Missense 27/28 - 1
19-2226727-A-C c.4207A>C p.T1403P Missense 27/28 - 1
19-2226727-A-T c.4207A>T p.T1403S Missense 27/28 - 2
19-2226728-C-A c.4208C>A p.T1403N Missense 27/28 - 3
19-2226728-C-G c.4208C>G p.T1403S Missense 27/28 - 6
19-2226728-C-T c.4208C>T p.T1403I Missense 27/28 - 3
19-2226729-C-A c.4209C>A p.T1403= Synonymous 27/28 - 1
19-2226729-C-G c.4209C>G p.T1403= Synonymous 27/28 - 1
19-2226729-C-T c.4209C>T p.T1403= Synonymous 27/28 - 1
19-2226730-C-G c.4210C>G p.P1404A Missense 27/28 - 2
19-2226733-C-G c.4213C>G p.L1405V Missense 27/28 - 1
19-2226741-C-G c.4221C>G p.S1407R Missense 27/28 - 1
19-2226742-G-A c.4222G>A p.G1408S Missense 27/28 - 2
19-2226742-G-T c.4222G>T p.G1408C Missense 27/28 - 1
19-2226743-G-A c.4223G>A p.G1408D Missense 27/28 - 4
19-2226743-G-T c.4223G>T p.G1408V Missense 27/28 - 1
19-2226746-A-G c.4226A>G p.K1409R Missense 27/28 - 2
19-2226747-G-A c.4227G>A p.K1409= Synonymous 27/28 - 1
19-2226747-G-C c.4227G>C p.K1409N Missense 27/28 - 3
19-2226747-G-T c.4227G>T p.K1409N Missense 27/28 - 4
19-2226750-C-T c.4230C>T p.A1410= Synonymous 27/28 - 1
19-2226751-G-A c.4231G>A p.A1411T Missense 27/28 - 2
19-2226766-C-T c.4246C>T p.R1416C Missense 27/28 - 1
19-2226768-C-T c.4248C>T p.R1416= Synonymous 27/28 - 1
19-2226769-G-A c.4249G>A p.E1417K Missense 27/28 - 2
19-2226770-A-T c.4250A>T p.E1417V Missense 27/28 - 1
19-2226772-G-C c.4252G>C p.V1418L Missense 27/28 - 27
19-2226774-C-A c.4254C>A p.V1418= Synonymous 27/28 - 2
19-2226774-C-G c.4254C>G p.V1418= Synonymous 27/28 - 2
19-2226774-C-T c.4254C>T p.V1418= Synonymous 27/28 - 3
19-2226775-G-A c.4255G>A p.D1419N Missense 27/28 - 1
19-2226777-C-T c.4257C>T p.D1419= Synonymous 27/28 - 1
19-2226779-T-C c.4259T>C p.L1420P Missense 27/28 - 1
19-2226780-C-A c.4260C>A p.L1420= Synonymous 27/28 - 1
19-2226780-C-G c.4260C>G p.L1420= Synonymous 27/28 - 3
19-2226780-C-T c.4260C>T p.L1420= Synonymous 27/28 - 1
19-2226788-G-A c.4268G>A p.G1423D Missense 27/28 - 1
19-2226790-C-A c.4270C>A p.H1424N Missense 27/28 - 1
19-2226796-C-T c.4276C>T p.L1426F Missense 27/28 - 1
19-2226798-C-A c.4278C>A p.L1426= Synonymous 27/28 - 2
19-2226804-C-G c.4284C>G p.I1428M Missense 27/28 - 1
19-2226805-T-G c.4285T>G p.S1429A Missense 27/28 - 1
19-2226809-C-T c.4289C>T p.A1430V Missense 27/28 - 2
19-2226812-C-T c.4292C>T p.A1431V Missense 27/28 - 2
19-2226814-G-A c.4294G>A p.A1432T Missense 27/28 - 1
19-2226817-G-A c.4297G>A p.V1433M Missense 27/28 - 2
19-2226823-C-T c.4303C>T p.P1435S Missense 27/28 - 2
19-2226824-C-T c.4304C>T p.P1435L Missense 27/28 - 1
19-2226825-C-A c.4305C>A p.P1435= Synonymous 27/28 - 1
19-2226825-C-G c.4305C>G p.P1435= Synonymous 27/28 - 1
19-2226825-C-T c.4305C>T p.P1435= Synonymous 27/28 - 2
19-2226826-G-A c.4306G>A p.G1436R Missense 27/28 - 2
19-2226826-G-C c.4306G>C p.G1436R Missense 27/28 - 1
19-2226827-G-A c.4307G>A p.G1436E Missense 27/28 - 4
19-2226832-C-G c.4312C>G p.L1438V Missense 27/28 - 1
19-2226833-T-G c.4313T>G p.L1438R Missense 27/28 - 2
19-2226834-C-T c.4314C>T p.L1438= Synonymous 27/28 - 1
19-2226835-C-A c.4315C>A p.L1439I Missense 27/28 - 1
19-2226837-C-A c.4317C>A p.L1439= Synonymous 27/28 - 1
19-2226837-C-G c.4317C>G p.L1439= Synonymous 27/28 - 1
19-2226837-C-T c.4317C>T p.L1439= Synonymous 27/28 - 3
19-2226838-AG-TT c.4318_4319delinsTT p.S1440F Missense 27/28 - 1
19-2226841-G-C c.4321G>C p.G1441R Missense 27/28 - 1
19-2226841-GG-AA c.4321_4322delinsAA p.G1441N Missense 27/28 - 1
19-2226844-C-T c.4324C>T p.P1442S Missense 27/28 - 3
19-2226845-C-T c.4325C>T p.P1442L Missense 27/28 - 1
19-2226846-C-A c.4326C>A p.P1442= Synonymous 27/28 - 1
19-2226846-C-G c.4326C>G p.P1442= Synonymous 27/28 - 1
19-2226846-C-T c.4326C>T p.P1442= Synonymous 27/28 - 2
19-2226847-G-A c.4327G>A p.G1443S Missense 27/28 - 1
19-2226847-G-T c.4327G>T p.G1443C Missense 27/28 - 11
19-2226848-G-T c.4328G>T p.G1443V Missense 27/28 - 1
19-2226851-T-G c.4331T>G p.L1444R Missense 27/28 - 1
19-2226853-G-A c.4333G>A p.A1445T Missense 27/28 - 1
19-2226855-C-T c.4335C>T p.A1445= Synonymous 27/28 - 4
19-2226856-CC-GT c.4336_4337delinsGT p.P1446V Missense 27/28 - 1
19-2226857-C-T c.4337C>T p.P1446L Missense 27/28 - 1
19-2226860-C-A c.4340C>A p.A1447E Missense 27/28 - 1
19-2226860-C-T c.4340C>T p.A1447V Missense 27/28 - 3
19-2226863-C-T c.4343C>T p.A1448V Missense 27/28 - 2
19-2226864-G-A c.4344G>A p.A1448= Synonymous 27/28 - 1
19-2226864-G-C c.4344G>C p.A1448= Synonymous 27/28 - 1
19-2226864-G-T c.4344G>T p.A1448= Synonymous 27/28 - 1
19-2226869-C-T c.4349C>T p.S1450F Missense 27/28 - 3
19-2226870-C-A c.4350C>A p.S1450= Synonymous 27/28 - 4
19-2226870-C-G c.4350C>G p.S1450= Synonymous 27/28 - 4
19-2226870-C-T c.4350C>T p.S1450= Synonymous 27/28 - 6
19-2226858-GGCGGCGTCCTCCGCAGGCGGC-G c.4353_4373del p.G1452_A1458del InFrameDeletion 27/28 - 3
19-2226874-GGC-TGA c.4354_4356delinsTGA p.G1452* Nonsense 27/28 - 1
19-2226876-C-A c.4356C>A p.G1452= Synonymous 27/28 - 1
19-2226876-C-G c.4356C>G p.G1452= Synonymous 27/28 - 1
19-2226876-C-T c.4356C>T p.G1452= Synonymous 27/28 - 3
19-2226877-G-A c.4357G>A p.G1453S Missense 27/28 - 1
19-2226880-G-A c.4360G>A p.A1454T Missense 27/28 - 1
19-2226881-C-T c.4361C>T p.A1454V Missense 27/28 - 1
19-2226883-G-A c.4363G>A p.A1455T Missense 27/28 - 1
19-2226884-C-T c.4364C>T p.A1455V Missense 27/28 - 2
19-2226883-GCGTCCTCCGCCCAGACGCACCGGTCCTTCCTGGGCCC-G c.4365_4401del p.S1457Rfs*49 Frameshift 27/28 - 1
19-2226885-G-A c.4365G>A p.A1455= Synonymous 27/28 - 1
19-2226890-C-T c.4370C>T p.S1457F Missense 27/28 - 4
19-2226889-TCCG-T c.4372_4374del p.A1458del InFrameDeletion 27/28 - 3
19-2226892-G-A c.4372G>A p.A1458T Missense 27/28 - 2
19-2226895-C-T c.4375C>T p.Q1459* Nonsense 27/28 - 1
19-2226899-C-A c.4379C>A p.T1460K Missense 27/28 - 1
19-2226899-C-T c.4379C>T p.T1460M Missense 27/28 - 1
19-2226904-CGG-AGC c.4384_4386delinsAGC p.R1462S Missense 27/28 - 1
19-2226906-G-T c.4386G>T p.R1462= Synonymous 27/28 - 1
19-2226908-C-T c.4388C>T p.S1463F Missense 27/28 - 1
19-2226912-C-T c.4392C>T p.F1464= Synonymous 27/28 - 2
19-2226913-C-G c.4393C>G p.L1465V Missense 27/28 - 1
19-2226917-G-A c.4397G>A p.G1466D Missense 27/28 - 1
19-2226918-C-T c.4398C>T p.G1466= Synonymous 27/28 - 1
19-2226920-C-G c.4400C>G p.P1467R Missense 27/28 - 1
19-2226920-C-T c.4400C>T p.P1467L Missense 27/28 - 1
19-2226921-C-A c.4401C>A p.P1467= Synonymous 27/28 - 1
19-2226921-C-G c.4401C>G p.P1467= Synonymous 27/28 - 1
19-2226921-C-T c.4401C>T p.P1467= Synonymous 27/28 - 1
19-2226922-T-G c.4402T>G p.F1468V Missense 27/28 - 1
19-2226924-C-T c.4404C>T p.F1468= Synonymous 27/28 - 2
19-2226926-C-T c.4406C>T p.P1469L Missense 27/28 - 1
19-2226927-G-A c.4407G>A p.P1469= Synonymous 27/28 - 2
19-2226927-G-C c.4407G>C p.P1469= Synonymous 27/28 - 1
19-2226927-G-T c.4407G>T p.P1469= Synonymous 27/28 - 1
19-2226929-C-A c.4409C>A p.P1470Q Missense 27/28 - 1
19-2226929-C-T c.4409C>T p.P1470L Missense 27/28 - 3
19-2226930-G-T c.4410G>T p.P1470= Synonymous 27/28 - 1
19-2226932-G-A c.4412G>A p.G1471E Missense 27/28 - 2
19-2226932-G-C c.4412G>C p.G1471A Missense 27/28 - 5
19-2226934-C-T c.4414C>T p.P1472S Missense 27/28 - 1
19-2226935-C-A c.4415C>A p.P1472Q Missense 27/28 - 1
19-2226935-C-G c.4415C>G p.P1472R Missense 27/28 - 1
19-2226936-G-A c.4416G>A p.P1472= Synonymous 27/28 - 1
19-2226940-T-C c.4420T>C p.F1474L Missense 27/28 - 1
19-2226942-C-G c.4422C>G p.F1474L Missense 27/28 - 1
19-2226941-T-G c.4421T>G p.F1474C Missense 27/28 - 1
19-2226942-C-A c.4422C>A p.F1474L Missense 27/28 - 2
19-2226942-C-T c.4422C>T p.F1474= Synonymous 27/28 - 7
19-2226943-G-A c.4423G>A p.A1475T Missense 27/28 - 3
19-2226949-G-A c.4429G>A p.G1477S Missense 27/28 - 1
19-2226951-C-T c.4431C>T p.G1477= Synonymous 27/28 - 1
19-2226952-C-T c.4432C>T p.P1478S Missense 27/28 - 1
19-2226953-C-T c.4433C>T p.P1478L Missense 27/28 - 1
19-2226955-A-G c.4435A>G p.M1479V Missense 27/28 - 2
19-2226956-T-C c.4436T>C p.M1479T Missense 27/28 - 1
19-2226967-G-A c.4447G>A p.A1483T Missense 27/28 - 1
19-2226976-G-T c.4456G>T p.G1486C Missense 27/28 - 1
19-2226980-C-T c.4460C>T p.S1487F Missense 27/28 - 2
19-2226981-C-A c.4461C>A p.S1487= Synonymous 27/28 - 1
19-2226981-C-T c.4461C>T p.S1487= Synonymous 27/28 - 1
19-2226982-G-A c.4462G>A p.V1488M Missense 27/28 - 1
19-2226986-C-T c.4466C>T p.A1489V Missense 27/28 - 1
19-2226988-G-T c.4468G>T p.G1490C Missense 27/28 - 1
19-2226989-G-A c.4469G>A p.G1490D Missense 27/28 - 2
19-2226989-G-T c.4469G>T p.G1490V Missense 27/28 - 1
19-2226992-C-T c.4472C>T p.S1491F Missense 27/28 - 1
19-2226995-C-T c.4475C>T p.S1492F Missense 27/28 - 4
19-2227004-A-G c.4484A>G p.Q1495R Missense 27/28 - 1
19-2227006-T-C c.4486T>C p.S1496P Missense 27/28 - 1
19-2227007-C-T c.4487C>T p.S1496L Missense 27/28 - 1
19-2227017-C-T c.4497C>T p.S1499= Synonymous 27/28 - 1
19-2227019-C-G c.4499C>G p.S1500C Missense 27/28 - 1
19-2227019-C-T c.4499C>T p.S1500F Missense 27/28 - 3
19-2227020-T-G c.4500T>G p.S1500= Synonymous 27/28 - 2
19-2227023-G-A c.4503G>A p.V1501= Synonymous 27/28 - 2
19-2227023-G-C c.4503G>C p.V1501= Synonymous 27/28 - 1
19-2227023-G-T c.4503G>T p.V1501= Synonymous 27/28 - 1
19-2227024-C-T c.4504C>T p.P1502S Missense 27/28 - 1
19-2227025-C-A c.4505C>A p.P1502Q Missense 27/28 - 1
19-2227025-C-T c.4505C>T p.P1502L Missense 27/28 - 1
19-2227026-G-A c.4506G>A p.P1502= Synonymous 27/28 - 2
19-2227026-G-C c.4506G>C p.P1502= Synonymous 27/28 - 1
19-2227026-G-T c.4506G>T p.P1502= Synonymous 27/28 - 1
19-2227029-C-A c.4509C>A p.A1503= Synonymous 27/28 - 1
19-2227029-C-G c.4509C>G p.A1503= Synonymous 27/28 - 1
19-2227029-C-T c.4509C>T p.A1503= Synonymous 27/28 - 4
19-2227030-G-A c.4510G>A p.A1504T Missense 27/28 - 4
19-2227033-G-A c.4513G>A p.A1505T Missense 27/28 - 2
19-2227037-G-A c.4517G>A p.G1506D Missense 27/28 - 1
19-2227043-T-A c.4523T>A p.V1508E Missense 27/28 - 1
19-2227045-C-A c.4525C>A p.H1509N Missense 27/28 - 1
19-2227045-C-T c.4525C>T p.H1509Y Missense 27/28 - 1
19-2227046-A-G c.4526A>G p.H1509R Missense 27/28 - 1
19-2227052-C-T c.4532C>T p.S1511L Missense 27/28 - 1
19-2227053-G-A c.4533G>A p.S1511= Synonymous 27/28 - 2
19-2227053-G-C c.4533G>C p.S1511= Synonymous 27/28 - 1
19-2227053-G-T c.4533G>T p.S1511= Synonymous 27/28 - 1
19-2227055-C-G c.4535C>G p.S1512C Missense 27/28 - 2
19-2227057-G-A c.4537G>A p.A1513T Missense 27/28 - 1
19-2227057-G-T c.4537G>T p.A1513S Missense 27/28 - 2
19-2227074-C-T c.4554C>T p.T1518= Synonymous 27/28 - 2
19-2227083-C-T c.4563C>T p.H1521= Synonymous 27/28 - 2
19-2227084-G-A c.4564G>A p.A1522T Missense 27/28 - 5
19-2227085-C-A c.4565C>A p.A1522D Missense 27/28 - 1
19-2227090-G-T c.4570G>T p.G1524C Missense 27/28 - 1
19-2227092-C-A c.4572C>A p.G1524= Synonymous 27/28 - 1
19-2227092-C-G c.4572C>G p.G1524= Synonymous 27/28 - 1
19-2227092-C-T c.4572C>T p.G1524= Synonymous 27/28 - 1
19-2227100-C-T c.4580C>T p.S1527F Missense 27/28 - 1
19-2227103-G-A c.4583G>A p.G1528E Missense 27/28 - 1
19-2227103-G-C c.4583G>C p.G1528A Missense 27/28 - 1
19-2227105-G-C c.4585G>C p.V1529L Missense 27/28 - 2
19-2227105-G-T c.4585G>T p.V1529L Missense 27/28 - 2
19-2227114-G-A c.4594G>A p.G1532S Missense 27/28 - 1
19-2227118-C-A c.4598C>A p.T1533K Missense 27/28 - 2
19-2227124-G-T c.4604G>T p.G1535V Missense 27/28 - 2
19-2227250-G-A c.4606+124G>A - IntronicSNV - 27/27 1
19-2227519-G-A c.4606+393G>A - IntronicSNV - 27/27 1
19-2227519-G-T c.4606+393G>T - IntronicSNV - 27/27 1
19-2227621-C-A c.4606+495C>A - IntronicSNV - 27/27 2
19-2227621-C-G c.4606+495C>G - IntronicSNV - 27/27 2
19-2227644-T-A c.4606+518T>A - IntronicSNV - 27/27 1
19-2227871-T-G c.4606+745T>G - IntronicSNV - 27/27 1
19-2227908-T-A c.4606+782T>A - IntronicSNV - 27/27 1
19-2227908-T-C c.4606+782T>C - IntronicSNV - 27/27 1
19-2227908-T-G c.4606+782T>G - IntronicSNV - 27/27 1
19-2227911-G-C c.4606+785G>C - IntronicSNV - 27/27 1
19-2227914-T-A c.4606+788T>A - IntronicSNV - 27/27 1
19-2227914-T-G c.4606+788T>G - IntronicSNV - 27/27 1
19-2227917-G-C c.4606+791G>C - IntronicSNV - 27/27 1
19-2227920-T-A c.4606+794T>A - IntronicSNV - 27/27 1
19-2227920-T-G c.4606+794T>G - IntronicSNV - 27/27 1
19-2227923-G-C c.4606+797G>C - IntronicSNV - 27/27 1
19-2227926-T-C c.4606+800T>C - IntronicSNV - 27/27 3
19-2227926-T-G c.4606+800T>G - IntronicSNV - 27/27 1
19-2227932-G-C c.4606+806G>C - IntronicSNV - 27/27 3
19-2227934-T-G c.4606+808T>G - IntronicSNV - 27/27 1
19-2227941-G-C c.4606+815G>C - IntronicSNV - 27/27 1
19-2227987-GC-G c.4606+868del - IntronicDeletion - 27/27 1
19-2228064-G-A c.4606+938G>A - IntronicSNV - 27/27 1
19-2228126-C-G c.4606+1000C>G - IntronicSNV - 27/27 1
19-2228126-C-T c.4606+1000C>T - IntronicSNV - 27/27 1
19-2228227-C-G c.4606+1101C>G - IntronicSNV - 27/27 1
19-2228237-C-G c.4606+1111C>G - IntronicSNV - 27/27 1
19-2228312-A-C c.4606+1186A>C - IntronicSNV - 27/27 1
19-2228342-G-A c.4606+1216G>A - IntronicSNV - 27/27 1
19-2228342-G-C c.4606+1216G>C - IntronicSNV - 27/27 1
19-2229154-T-G c.4607-630T>G - IntronicSNV - 27/27 1
19-2229693-G-A c.4607-91G>A - IntronicSNV - 27/27 1
19-2229784-G-C c.4607G>C p.G1536A Missense 28/28 - 1
19-2229787-A-G c.4610A>G p.N1537S Missense 28/28 - 1
19-2229790-A-C c.4613A>C p.*1538Sext*63 Missense 28/28 - 2
19-2229808-G-A c.*17G>A - 3-UTRSNV 28/28 - 1
19-2230308-A-G c.*517A>G - 3-UTRSNV 28/28 - 1
19-2230308-A-T c.*517A>T - 3-UTRSNV 28/28 - 1
19-2230553-C-G c.*762C>G - 3-UTRSNV 28/28 - 1
19-2230553-C-T c.*762C>T - 3-UTRSNV 28/28 - 1
19-2230607-T-C c.*816T>C - 3-UTRSNV 28/28 - 1
19-2232049-G-A c.*2258G>A - 3-UTRSNV 28/28 - 1
19-2232083-G-A c.*2292G>A - 3-UTRSNV 28/28 - 1
19-2232083-G-T c.*2292G>T - 3-UTRSNV 28/28 - 1
19-2232220-A-C c.*2429A>C - 3-UTRSNV 28/28 - 1
19-2232221-A-G c.*2430A>G - 3-UTRSNV 28/28 - 7
19-2232221-A-T c.*2430A>T - 3-UTRSNV 28/28 - 7