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 |