ABCA4 ATP binding cassette subfamily A member 4

Annotation transcript: NM_000350.3

1773 unique variant annotations were identified in 769 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-94458795-A-T c.6820T>A p.*2274Rext*34 Missense 50/50 - 1
1-94461663-A-T c.6816+2T>A - IntronicSNV - 49/49 1
1-94461664-C-A c.6816+1G>T - IntronicSNV - 49/49 1
1-94461664-C-T c.6816+1G>A - IntronicSNV - 49/49 6
1-94461665-CCTG-C c.6814_6816del p.Q2272del InFrameDeletion 49/50 - 2
1-94461670-C-T c.6811G>A p.A2271T Missense 49/50 - 1
1-94461676-G-A c.6805C>T p.R2269* Nonsense 49/50 - 1
1-94461693-C-T c.6788G>A p.R2263Q Missense 49/50 - 1
1-94461717-C-A c.6764G>T p.S2255I Missense 49/50 - 12
1-94461733-T-A c.6748A>T p.K2250* Nonsense 49/50 - 1
1-94461735-G-T c.6746C>A p.A2249D Missense 49/50 - 1
1-94461738-A-G c.6743T>C p.F2248S Missense 49/50 - 2
1-94461749-C-T c.6732G>A p.V2244= Synonymous 49/50 - 2
1-94461750-AC-TA c.6730_6731delinsTA p.V2244* Nonsense 49/50 - 1
1-94461750-A-T c.6731T>A p.V2244E Missense 49/50 - 1
1-94461754-A-G c.6730-3T>C - IntronicSNV - 48/49 1
1-94463356-C-T c.6729+61G>A - IntronicSNV - 48/49 1
1-94463396-G-A c.6729+21C>T - IntronicSNV - 48/49 2
1-94463397-GTGCCCCAGGGCCAAC-G c.6729+5_6729+19del - IntronicDeletion - 48/49 5
1-94463419-TGGTCCAGTGTGGTCTGTGTGACTGAGTACTCCTCGATGAGCAGGCTGTCCTTGTGGGAG-T c.6669_6727del p.S2224Gfs*7 InFrameDeletion 48/50 - 1
1-94463424-A-G c.6722T>C p.L2241P Missense 48/50 - 2
1-94463425-G-C c.6721C>G p.L2241V Missense 48/50 - 5
1-94463428-T-C c.6718A>G p.T2240A Missense 48/50 - 6
1-94463434-G-GT c.6711dup p.Q2238Tfs*13 Frameshift 48/50 - 1
1-94463436-G-GT c.6709dup p.T2237Nfs*14 Frameshift 48/50 - 1
1-94463437-T-G c.6709A>C p.T2237P Missense 48/50 - 1
1-94463442-G-C c.6704C>G p.S2235* Nonsense 48/50 - 1
1-94463452-C-A c.6694G>T p.E2232* Nonsense 48/50 - 1
1-94463452-C-T c.6694G>A p.E2232K Missense 48/50 - 2
1-94463460-A-G c.6686T>C p.L2229P Missense 48/50 - 2
1-94463476-GA-G c.6670del p.S2224Pfs*23 Frameshift 48/50 - 5
1-94463488-G-A c.6658C>T p.Q2220* Nonsense 48/50 - 14
1-94463488-G-T c.6658C>A p.Q2220K Missense 48/50 - 2
1-94463499-G-A c.6647C>T p.A2216V Missense 48/50 - 4
1-94463505-G-A c.6641C>T p.S2214F Missense 48/50 - 1
1-94463521-G-A c.6625C>T p.Q2209* Nonsense 48/50 - 1
1-94463535-T-C c.6611A>G p.N2204S Missense 48/50 - 1
1-94463537-G-C c.6609C>G p.Y2203* Nonsense 48/50 - 1
1-94463537-G-T c.6609C>A p.Y2203* Nonsense 48/50 - 1
1-94463543-CCT-C c.6601_6602del p.R2201Afs*49 Frameshift 48/50 - 1
1-94463554-G-A c.6592C>T p.Q2198* Nonsense 48/50 - 1
1-94463565-GGGAAGTTCCCCTGGAAGAACTGCTCCACAGGGTTCA-G c.6545_6580del p.L2182_F2193del InFrameDeletion 48/50 - 2
1-94463566-GGAA-G c.6577_6579del p.F2193del InFrameDeletion 48/50 - 1
1-94463583-A-C c.6563T>G p.F2188C Missense 48/50 - 1
1-94463583-A-G c.6563T>C p.F2188S Missense 48/50 - 11
1-94463587-G-A c.6559C>T p.Q2187* Nonsense 48/50 - 3
1-94463588-C-T c.6558G>A p.E2186= Synonymous 48/50 - 1
1-94463600-TCAG-T c.6544_6546del p.L2182del InFrameDeletion 48/50 - 1
1-94463603-G-A c.6543C>T p.D2181= Synonymous 48/50 - 1
1-94463607-G-A c.6539C>T p.P2180L Missense 48/50 - 2
1-94463608-G-A c.6538C>T p.P2180S Missense 48/50 - 1
1-94463608-GA-G c.6537del p.P2180Lfs*3 Frameshift 48/50 - 2
1-94463617-C-T c.6529G>A p.D2177N Missense 48/50 - 21
1-94463631-T-C c.6515A>G p.K2172R Missense 48/50 - 1
1-94463634-A-C c.6512T>G p.I2171S Missense 48/50 - 1
1-94463634-A-T c.6512T>A p.I2171N Missense 48/50 - 1
1-94463648-G-A c.6498C>T p.I2166= Synonymous 48/50 - 2
1-94463648-G-C c.6498C>G p.I2166M Missense 48/50 - 2
1-94463662-C-T c.6484G>A p.G2162R Missense 48/50 - 1
1-94466066-G-A c.6479+326C>T - IntronicSNV - 47/49 1
1-94466066-G-C c.6479+326C>G - IntronicSNV - 47/49 1
1-94466066-G-T c.6479+326C>A - IntronicSNV - 47/49 1
1-94466088-A-G c.6479+304T>C - IntronicSNV - 47/49 1
1-94466389-T-G c.6479+3A>C - IntronicSNV - 47/49 1
1-94466390-A-G c.6479+2T>C - IntronicSNV - 47/49 2
1-94466391-C-G c.6479+1G>C - IntronicSNV - 47/49 3
1-94466391-C-T c.6479+1G>A - IntronicSNV - 47/49 4
1-94466393-T-C c.6478A>G p.K2160E Missense 47/50 - 3
1-94466396-A-G c.6475T>C p.S2159P Missense 47/50 - 1
1-94466399-T-G c.6472A>C p.K2158Q Missense 47/50 - 1
1-94466405-G-A c.6466C>T p.H2156Y Missense 47/50 - 1
1-94466416-C-A c.6455G>T p.G2152V Missense 47/50 - 1
1-94466416-C-T c.6455G>A p.G2152D Missense 47/50 - 1
1-94466422-C-T c.6449G>A p.C2150Y Missense 47/50 - 23
1-94466423-A-G c.6448T>C p.C2150R Missense 47/50 - 6
1-94466425-C-A c.6446G>T p.R2149L Missense 47/50 - 2
1-94466426-G-A c.6445C>T p.R2149* Nonsense 47/50 - 20
1-94466434-C-A c.6437G>T p.G2146V Missense 47/50 - 1
1-94466434-C-T c.6437G>A p.G2146D Missense 47/50 - 2
1-94466442-C-A c.6429G>T p.M2143I Missense 47/50 - 1
1-94466442-C-G c.6429G>C p.M2143I Missense 47/50 - 1
1-94466442-C-T c.6429G>A p.M2143I Missense 47/50 - 1
1-94466443-A-T c.6428T>A p.M2143K Missense 47/50 - 1
1-94466444-T-A c.6427A>T p.M2143L Missense 47/50 - 2
1-94466446-A-C c.6425T>G p.I2142S Missense 47/50 - 1
1-94466447-T-C c.6424A>G p.I2142V Missense 47/50 - 1
1-94466452-A-T c.6419T>A p.L2140Q Missense 47/50 - 2
1-94466455-C-A c.6416G>T p.R2139L Missense 47/50 - 1
1-94466455-C-G c.6416G>C p.R2139P Missense 47/50 - 1
1-94466455-C-T c.6416G>A p.R2139Q Missense 47/50 - 1
1-94466456-G-A c.6415C>T p.R2139W Missense 47/50 - 5
1-94466456-G-T c.6415C>A p.R2139= Synonymous 47/50 - 1
1-94466460-A-T c.6411T>A p.C2137* Nonsense 47/50 - 1
1-94466461-C-T c.6410G>A p.C2137Y Missense 47/50 - 5
1-94466477-C-A c.6394G>T p.E2132* Nonsense 47/50 - 2
1-94466477-C-T c.6394G>A p.E2132K Missense 47/50 - 2
1-94466480-C-T c.6391G>A p.E2131K Missense 47/50 - 2
1-94466482-A-T c.6389T>A p.M2130K Missense 47/50 - 3
1-94466484-G-A c.6387C>T p.S2129= Synonymous 47/50 - 1
1-94466484-G-C c.6387C>G p.S2129R Missense 47/50 - 1
1-94466556-G-C c.6386+2C>G - IntronicSNV - 46/49 3
1-94466557-C-T c.6386+1G>A - IntronicSNV - 46/49 2
1-94466558-C-T c.6386G>A p.S2129N Missense 46/50 - 1
1-94466559-T-C c.6385A>G p.S2129G Missense 46/50 - 4
1-94466561-T-A c.6383A>T p.H2128L Missense 46/50 - 1
1-94466561-T-C c.6383A>G p.H2128R Missense 46/50 - 3
1-94466562-G-A c.6382C>T p.H2128Y Missense 46/50 - 1
1-94466561-TG-T c.6382del p.H2128Tfs*17 Frameshift 46/50 - 1
1-94466564-G-A c.6380C>T p.S2127F Missense 46/50 - 2
1-94466587-T-C c.6357A>G p.E2119= Synonymous 46/50 - 1
1-94466591-CT-TC c.6352_6353delinsGA p.R2118E Missense 46/50 - 1
1-94466602-C-G c.6342G>C p.V2114= Synonymous 46/50 - 4
1-94466602-C-T c.6342G>A p.V2114= Synonymous 46/50 - 5
1-94466611-G-A c.6333C>T p.N2111= Synonymous 46/50 - 1
1-94466613-TCCACAGCA-GCC c.6323_6331delinsGGC p.M2108_N2111delinsRH MultiAAMissense 46/50 - 1
1-94466615-C-T c.6329G>A p.W2110* Nonsense 46/50 - 3
1-94466616-A-G c.6328T>C p.W2110R Missense 46/50 - 1
1-94466618-AGCATGCG-A c.6319_6325del p.R2107Cfs*6 Frameshift 46/50 - 2
1-94466624-C-G c.6320G>C p.R2107P Missense 46/50 - 5
1-94466624-C-T c.6320G>A p.R2107H Missense 46/50 - 39
1-94466625-G-A c.6319C>T p.R2107C Missense 46/50 - 2
1-94466627-C-G c.6317G>C p.R2106P Missense 46/50 - 2
1-94466627-C-T c.6317G>A p.R2106H Missense 46/50 - 5
1-94466628-G-A c.6316C>T p.R2106C Missense 46/50 - 15
1-94466632-C-A c.6312G>T p.Q2104H Missense 46/50 - 1
1-94466632-C-G c.6312G>C p.Q2104H Missense 46/50 - 1
1-94466634-G-A c.6310C>T p.Q2104* Nonsense 46/50 - 2
1-94466636-G-T c.6308C>A p.P2103H Missense 46/50 - 1
1-94466638-G-C c.6306C>G p.D2102E Missense 46/50 - 1
1-94466638-G-T c.6306C>A p.D2102E Missense 46/50 - 2
1-94466645-C-T c.6299G>A p.G2100E Missense 46/50 - 1
1-94466656-C-A c.6288G>T p.E2096D Missense 46/50 - 1
1-94466657-T-C c.6287A>G p.E2096G Missense 46/50 - 1
1-94466658-C-G c.6286G>C p.E2096Q Missense 46/50 - 2
1-94466658-C-T c.6286G>A p.E2096K Missense 46/50 - 5
1-94466659-A-G c.6285T>C p.D2095= Synonymous 46/50 - 7
1-94466660-T-A c.6284A>T p.D2095V Missense 46/50 - 2
1-94466660-T-C c.6284A>G p.D2095G Missense 46/50 - 1
1-94467407-C-T c.6282+7G>A - IntronicSNV - 45/49 3
1-94467411-T-A c.6282+3A>T - IntronicSNV - 45/49 1
1-94467411-T-C c.6282+3A>G - IntronicSNV - 45/49 1
1-94467413-C-G c.6282+1G>C - IntronicSNV - 45/49 2
1-94467413-C-T c.6282+1G>A - IntronicSNV - 45/49 1
1-94467413-CCAG-C c.6280_6282del p.L2094del InFrameDeletion 45/50 - 1
1-94467424-A-T c.6272T>A p.L2091Q Missense 45/50 - 1
1-94467426-C-T c.6270G>A p.P2090= Synonymous 45/50 - 1
1-94467446-C-G c.6250G>C p.A2084P Missense 45/50 - 1
1-94467446-C-T c.6250G>A p.A2084T Missense 45/50 - 2
1-94467447-G-A c.6249C>T p.I2083= Synonymous 45/50 - 9
1-94467447-G-C c.6249C>G p.I2083M Missense 45/50 - 2
1-94467447-G-T c.6249C>A p.I2083= Synonymous 45/50 - 7
1-94467456-GGA-G c.6238_6239del p.S2080Hfs*16 Frameshift 45/50 - 3
1-94467466-C-T c.6230G>A p.R2077Q Missense 45/50 - 2
1-94467467-G-A c.6229C>T p.R2077W Missense 45/50 - 31
1-94467467-G-C c.6229C>G p.R2077G Missense 45/50 - 4
1-94467467-G-T c.6229C>A p.R2077= Synonymous 45/50 - 1
1-94467471-G-T c.6225C>A p.N2075K Missense 45/50 - 1
1-94467475-C-A c.6221G>T p.G2074V Missense 45/50 - 2
1-94467475-C-T c.6221G>A p.G2074D Missense 45/50 - 1
1-94467476-C-T c.6220G>A p.G2074S Missense 45/50 - 1
1-94467474-G-GC c.6221dup p.N2075Qfs*22 Frameshift 45/50 - 1
1-94467480-A-G c.6216T>C p.S2072= Synonymous 45/50 - 1
1-94467480-A-T c.6216T>A p.S2072R Missense 45/50 - 1
1-94467481-C-T c.6215G>A p.S2072N Missense 45/50 - 1
1-94467482-T-G c.6214A>C p.S2072R Missense 45/50 - 1
1-94467487-G-C c.6209C>G p.T2070R Missense 45/50 - 1
1-94467500-CA-C c.6196del p.C2066Afs*49 Frameshift 45/50 - 1
1-94467505-G-A c.6191C>T p.A2064V Missense 45/50 - 1
1-94467506-C-T c.6190G>A p.A2064T Missense 45/50 - 4
1-94467508-GTAGAC-G c.6184_6188del p.V2062Rfs*33 Frameshift 45/50 - 1
1-94467508-TAGAC-T c.6184_6187del p.V2062Tfs*52 Frameshift 45/50 - 1
1-94467517-A-C c.6179T>G p.L2060R Missense 45/50 - 4
1-94467517-A-G c.6179T>C p.L2060P Missense 45/50 - 1
1-94467520-C-G c.6176G>C p.G2059A Missense 45/50 - 1
1-94467523-A-C c.6173T>G p.L2058R Missense 45/50 - 2
1-94467524-G-C c.6172C>G p.L2058V Missense 45/50 - 1
1-94467530-T-A c.6166A>T p.K2056* Nonsense 45/50 - 5
1-94467540-GT-G c.6155del p.N2052Tfs*9 Frameshift 45/50 - 2
1-94467548-C-G c.6148G>C p.V2050L Missense 45/50 - 27
1-94468037-G-A c.6148-489C>T - IntronicSNV - 44/49 1
1-94469573-G-T c.6147+1424C>A - IntronicSNV - 44/49 1
1-94470995-A-T c.6147+2T>A - IntronicSNV - 44/49 1
1-94470997-C-T c.6147G>A p.K2049= Synonymous 44/50 - 2
1-94470997-CT-C c.6146del p.K2049Rfs*12 Frameshift 44/50 - 2
1-94471004-A-T c.6140T>A p.I2047N Missense 44/50 - 3
1-94471017-G-A c.6127C>T p.P2043S Missense 44/50 - 1
1-94471022-C-T c.6122G>A p.G2041D Missense 44/50 - 2
1-94471025-C-A c.6119G>T p.R2040L Missense 44/50 - 1
1-94471025-C-T c.6119G>A p.R2040Q Missense 44/50 - 9
1-94471026-G-A c.6118C>T p.R2040* Nonsense 44/50 - 13
1-94471031-C-T c.6113G>A p.R2038Q Missense 44/50 - 2
1-94471032-G-A c.6112C>T p.R2038W Missense 44/50 - 12
1-94471037-T-C c.6107A>G p.Y2036C Missense 44/50 - 2
1-94471046-A-T c.6098T>A p.L2033H Missense 44/50 - 1
1-94471049-T-C c.6095A>G p.H2032R Missense 44/50 - 4
1-94471050-G-A c.6094C>T p.H2032Y Missense 44/50 - 1
1-94471055-CG-TC c.6088_6089delinsGA p.R2030E Missense 44/50 - 1
1-94471055-C-T c.6089G>A p.R2030Q Missense 44/50 - 47
1-94471056-G-A c.6088C>T p.R2030* Nonsense 44/50 - 27
1-94471056-G-C c.6088C>G p.R2030G Missense 44/50 - 1
1-94471058-C-A c.6086G>T p.G2029V Missense 44/50 - 1
1-94471061-G-A c.6083C>T p.T2028I Missense 44/50 - 1
1-94471064-A-G c.6080T>C p.L2027P Missense 44/50 - 1
1-94471065-G-A c.6079C>T p.L2027F Missense 44/50 - 53
1-94471067-A-G c.6077T>C p.L2026P Missense 44/50 - 2
1-94471068-G-A c.6076C>T p.L2026= Synonymous 44/50 - 1
1-94471069-CTCA-C c.6072_6074del p.D2024del InFrameDeletion 44/50 - 1
1-94471075-A-G c.6069T>C p.I2023= Synonymous 44/50 - 6
1-94471075-A-T c.6069T>A p.I2023= Synonymous 44/50 - 6
1-94471078-T-C c.6066A>G p.A2022= Synonymous 44/50 - 1
1-94471098-AGCCCATATTTTGAT-A c.6032_6045del p.H2011Lfs*6 Frameshift 44/50 - 1
1-94471103-A-G c.6041T>C p.M2014T Missense 44/50 - 1
1-94471119-TC-T c.6025del p.E2009Kfs*52 Frameshift 44/50 - 1
1-94471138-TA-T c.6006del p.S2002Rfs*3 Frameshift 44/50 - 1
1-94471154-C-A c.6006-16G>T - IntronicSNV - 43/49 1
1-94471154-C-T c.6006-16G>A - IntronicSNV - 43/49 1
1-94471747-A-T c.6006-609T>A - IntronicSNV - 43/49 1
1-94473189-C-A c.6005+1G>T - IntronicSNV - 43/49 3
1-94473189-C-G c.6005+1G>C - IntronicSNV - 43/49 1
1-94473189-C-T c.6005+1G>A - IntronicSNV - 43/49 1
1-94473188-AC-A c.6005+1del - IntronicDeletion 43/50 - 1
1-94473212-C-T c.5983G>A p.D1995N Missense 43/50 - 1
1-94473214-C-T c.5981G>A p.G1994E Missense 43/50 - 2
1-94473218-A-G c.5977T>C p.S1993P Missense 43/50 - 1
1-94473231-GTCCCC-CA c.5959_5964delinsTG p.G1987* Frameshift 43/50 - 1
1-94473231-TGTCC-T c.5961_5964del p.D1988Pfs*3 Frameshift 43/50 - 3
1-94473236-C-A c.5959G>T p.G1987W Missense 43/50 - 2
1-94473253-G-C c.5942C>G p.T1981R Missense 43/50 - 2
1-94473256-G-A c.5939C>T p.T1980I Missense 43/50 - 1
1-94473261-TT-CA c.5933_5934delinsTG p.K1978M Missense 43/50 - 5
1-94473259-GT-G c.5935del p.T1979Qfs*13 Frameshift 43/50 - 5
1-94473263-T-C c.5932A>G p.K1978E Missense 43/50 - 3
1-94473266-C-T c.5929G>A p.G1977S Missense 43/50 - 17
1-94473271-C-A c.5924G>T p.G1975V Missense 43/50 - 1
1-94473271-C-T c.5924G>A p.G1975D Missense 43/50 - 1
1-94473272-C-G c.5923G>C p.G1975R Missense 43/50 - 4
1-94473277-AC-TA c.5917_5918delinsTA p.V1973* Nonsense 43/50 - 1
1-94473278-AC-A c.5917del p.V1973* Frameshift 43/50 - 19
1-94473281-C-T c.5914G>A p.G1972R Missense 43/50 - 4
1-94473283-A-C c.5912T>G p.L1971R Missense 43/50 - 1
1-94473287-G-A c.5908C>T p.L1970F Missense 43/50 - 11
1-94473296-A-C c.5899T>G p.C1967G Missense 43/50 - 1
1-94473296-A-G c.5899T>C p.C1967R Missense 43/50 - 1
1-94473786-C-T c.5898+5G>A - IntronicSNV - 42/49 1
1-94473785-AC-A c.5898+5del - IntronicDeletion - 42/49 4
1-94473789-A-G c.5898+2T>C - IntronicSNV - 42/49 3
1-94473790-C-T c.5898+1G>A - IntronicSNV - 42/49 3
1-94473791-C-T c.5898G>A p.E1966= Synonymous 42/50 - 2
1-94473797-CA-C c.5892del p.G1965Efs*9 Frameshift 42/50 - 2
1-94473802-G-A c.5887C>T p.R1963C Missense 42/50 - 2
1-94473806-TC-GT c.5882_5883delinsAC p.G1961D Missense 42/50 - 1
1-94473807-CC-TG c.5881_5882delinsCA p.G1961Q Missense 42/50 - 2
1-94473807-C-G c.5882G>C p.G1961A Missense 42/50 - 3
1-94473807-C-T c.5882G>A p.G1961E Missense 42/50 - 197
1-94473808-C-T c.5881G>A p.G1961R Missense 42/50 - 7
1-94473812-A-T c.5877T>A p.C1959* Nonsense 42/50 - 1
1-94473817-G-A c.5872C>T p.L1958= Synonymous 42/50 - 1
1-94473831-G-C c.5858C>G p.P1953R Missense 42/50 - 1
1-94473845-T-C c.5844A>G p.P1948= Synonymous 42/50 - 8
1-94473846-G-A c.5843C>T p.P1948L Missense 42/50 - 8
1-94473864-C-A c.5836-11G>T - IntronicSNV - 41/49 2
1-94473864-C-G c.5836-11G>C - IntronicSNV - 41/49 2
1-94473864-C-T c.5836-11G>A - IntronicSNV - 41/49 2
1-94474020-G-A c.5836-167C>T - IntronicSNV - 41/49 1
1-94474185-A-C c.5835+122T>G - IntronicSNV - 41/49 2
1-94474323-A-G c.5819T>C p.L1940P Missense 41/50 - 10
1-94474323-A-T c.5819T>A p.L1940Q Missense 41/50 - 1
1-94474328-T-C c.5814A>G p.L1938= Synonymous 41/50 - 11
1-94474330-A-G c.5812T>C p.L1938= Synonymous 41/50 - 1
1-94474349-AC-CT c.5792_5793delinsAG p.G1931E Missense 41/50 - 1
1-94474351-C-T c.5791G>A p.G1931S Missense 41/50 - 1
1-94474362-CTT-C c.5778_5779del p.R1927Nfs*7 Frameshift 41/50 - 1
1-94474369-T-C c.5773A>G p.R1925G Missense 41/50 - 1
1-94474378-CCA-C c.5762_5763del p.V1921Gfs*2 Frameshift 41/50 - 1
1-94474381-C-A c.5761G>T p.V1921L Missense 41/50 - 2
1-94474381-C-G c.5761G>C p.V1921L Missense 41/50 - 1
1-94474381-C-T c.5761G>A p.V1921M Missense 41/50 - 10
1-94474420-C-A c.5722G>T p.E1908* Nonsense 41/50 - 1
1-94474452-T-G c.5715-25A>C - IntronicSNV - 40/49 1
1-94476351-C-A c.5714+5G>T - IntronicSNV - 40/49 1
1-94476351-C-T c.5714+5G>A - IntronicSNV - 40/49 51
1-94476355-C-G c.5714+1G>C - IntronicSNV - 40/49 2
1-94476356-C-T c.5714G>A p.W1905* Nonsense 40/50 - 1
1-94476358-T-A c.5712A>T p.Q1904H Missense 40/50 - 1
1-94476360-G-A c.5710C>T p.Q1904* Nonsense 40/50 - 1
1-94476365-AGGAAGAAGTGGCGCT-A c.5690_5704del p.Q1897_F1901del InFrameDeletion 40/50 - 1
1-94476377-C-T c.5693G>A p.R1898H Missense 40/50 - 11
1-94476378-G-A c.5692C>T p.R1898C Missense 40/50 - 3
1-94476379-C-A c.5691G>T p.Q1897H Missense 40/50 - 2
1-94476383-A-T c.5687T>A p.V1896D Missense 40/50 - 2
1-94476385-CCA-C c.5684_5685del p.L1895Rfs*16 Frameshift 40/50 - 1
1-94476388-C-A c.5682G>T p.L1894= Synonymous 40/50 - 1
1-94476388-C-G c.5682G>C p.L1894= Synonymous 40/50 - 12
1-94476388-C-T c.5682G>A p.L1894= Synonymous 40/50 - 1
1-94476390-G-A c.5680C>T p.L1894= Synonymous 40/50 - 1
1-94476413-C-T c.5657G>A p.G1886E Missense 40/50 - 1
1-94476417-C-T c.5653G>A p.E1885K Missense 40/50 - 1
1-94476424-C-G c.5646G>C p.M1882I Missense 40/50 - 1
1-94476424-C-T c.5646G>A p.M1882I Missense 40/50 - 9
1-94476425-A-G c.5645T>C p.M1882T Missense 40/50 - 4
1-94476426-T-C c.5644A>G p.M1882V Missense 40/50 - 2
1-94476428-G-A c.5642C>T p.A1881V Missense 40/50 - 6
1-94476430-A-T c.5640T>A p.F1880L Missense 40/50 - 1
1-94476449-A-G c.5621T>C p.L1874P Missense 40/50 - 1
1-94476464-G-A c.5606C>T p.P1869L Missense 40/50 - 2
1-94476463-CG-C c.5606del p.P1869Rfs*6 Frameshift 40/50 - 1
1-94476467-T-A c.5603A>T p.N1868I Missense 40/50 - 77
1-94476467-TT-AG c.5602_5603delinsCT p.N1868L Missense 40/50 - 1
1-94476477-G-A c.5593C>T p.H1865Y Missense 40/50 - 3
1-94476483-C-CAG c.5586_5587insCT p.E1863Lfs*13 SpliceAcceptorInsertion 40/50 - 3
1-94476555-G-A c.5585-70C>T - IntronicSNV - 39/49 2
1-94476695-C-T c.5584+123G>A - IntronicSNV - 39/49 1
1-94476812-A-G c.5584+6T>C - IntronicSNV - 39/49 3
1-94476813-C-T c.5584+5G>A - IntronicSNV - 39/49 2
1-94476814-C-A c.5584+4G>T - IntronicSNV - 39/49 1
1-94476814-C-G c.5584+4G>C - IntronicSNV - 39/49 1
1-94476814-C-T c.5584+4G>A - IntronicSNV - 39/49 1
1-94476818-C-G c.5584G>C p.G1862R Missense 39/50 - 1
1-94476823-C-T c.5579G>A p.R1860Q Missense 39/50 - 1
1-94476824-G-A c.5578C>T p.R1860W Missense 39/50 - 1
1-94476830-A-T c.5572T>A p.Y1858N Missense 39/50 - 1
1-94476842-C-A c.5560G>T p.V1854L Missense 39/50 - 2
1-94476853-A-G c.5549T>C p.L1850P Missense 39/50 - 4
1-94476865-A-G c.5537T>C p.I1846T Missense 39/50 - 6
1-94476865-A-T c.5537T>A p.I1846N Missense 39/50 - 1
1-94476871-C-T c.5531G>A p.G1844D Missense 39/50 - 2
1-94476872-C-A c.5530G>T p.G1844C Missense 39/50 - 2
1-94476875-G-A c.5527C>T p.R1843W Missense 39/50 - 4
1-94476875-G-C c.5527C>G p.R1843G Missense 39/50 - 1
1-94476887-A-T c.5515T>A p.F1839I Missense 39/50 - 1
1-94476889-T-C c.5513A>G p.H1838R Missense 39/50 - 1
1-94476890-G-A c.5512C>T p.H1838Y Missense 39/50 - 2
1-94476890-G-C c.5512C>G p.H1838D Missense 39/50 - 6
1-94476890-G-T c.5512C>A p.H1838N Missense 39/50 - 5
1-94476893-G-A c.5509C>T p.P1837S Missense 39/50 - 1
1-94476901-A-G c.5501T>C p.I1834T Missense 39/50 - 1
1-94476915-C-A c.5487G>T p.L1829= Synonymous 39/50 - 1
1-94476915-C-G c.5487G>C p.L1829= Synonymous 39/50 - 1
1-94476915-C-T c.5487G>A p.L1829= Synonymous 39/50 - 1
1-94476917-G-A c.5485C>T p.L1829= Synonymous 39/50 - 1
1-94476916-A-G c.5486T>C p.L1829P Missense 39/50 - 1
1-94476939-CGT-GTC c.5461_5463delinsGAC p.T1821D Missense 39/50 - 1
1-94476951-A-G c.5461-10T>C - IntronicSNV - 38/49 5
1-94478595-T-C c.5460+1504A>G - IntronicSNV - 38/49 2
1-94478780-CCCG-C c.5460+1316_5460+1318del - IntronicDeletion - 38/49 1
1-94480037-C-T c.5460+62G>A - IntronicSNV - 38/49 2
1-94480094-C-T c.5460+5G>A - IntronicSNV - 38/49 2
1-94480095-T-A c.5460+4A>T - IntronicSNV - 38/49 1
1-94480098-C-A c.5460+1G>T - IntronicSNV - 38/49 1
1-94480098-C-G c.5460+1G>C - IntronicSNV - 38/49 1
1-94480098-C-T c.5460+1G>A - IntronicSNV - 38/49 2
1-94480099-C-T c.5460G>A p.R1820= Synonymous 38/50 - 1
1-94480100-CCGGTTATTCTCAAATAATTCCAAGATGAAGGTAATAGCACTGCTGTTGATGCCGATGAA-C c.5401_5459del p.F1801Dfs*27 Unclassified 38/50 - 1
1-94480100-C-G c.5459G>C p.R1820P Missense 38/50 - 1
1-94480108-C-A c.5451G>T p.E1817D Missense 38/50 - 1
1-94480112-A-G c.5447T>C p.F1816S Missense 38/50 - 1
1-94480115-A-G c.5444T>C p.L1815S Missense 38/50 - 1
1-94480119-C-T c.5440G>A p.E1814K Missense 38/50 - 1
1-94480123-GAT-CTC c.5434_5436delinsGAG p.I1812E Missense 38/50 - 1
1-94480124-A-T c.5435T>A p.I1812N Missense 38/50 - 1
1-94480124-AT-GC c.5434_5435delinsGC p.I1812A Missense 38/50 - 1
1-94480132-AAT-A c.5425_5426del p.I1809Yfs*8 Frameshift 38/50 - 1
1-94480142-C-T c.5417G>A p.S1806N Missense 38/50 - 1
1-94480146-T-C c.5413A>G p.N1805D Missense 38/50 - 9
1-94480164-T-C c.5395A>G p.N1799D Missense 38/50 - 6
1-94480168-A-G c.5391T>C p.C1797= Synonymous 38/50 - 1
1-94480175-A-C c.5384T>G p.L1795* Nonsense 38/50 - 1
1-94480175-A-G c.5384T>C p.L1795S Missense 38/50 - 1
1-94480176-A-C c.5383T>G p.L1795V Missense 38/50 - 2
1-94480178-G-T c.5381C>A p.A1794D Missense 38/50 - 8
1-94480179-C-G c.5380G>C p.A1794P Missense 38/50 - 2
1-94480180-C-T c.5379G>A p.V1793= Synonymous 38/50 - 1
1-94480182-C-T c.5377G>A p.V1793M Missense 38/50 - 3
1-94480196-G-A c.5363C>T p.P1788L Missense 38/50 - 1
1-94480208-A-C c.5351T>G p.L1784R Missense 38/50 - 3
1-94480208-A-G c.5351T>C p.L1784P Missense 38/50 - 3
1-94480221-G-C c.5338C>G p.P1780A Missense 38/50 - 1
1-94480222-G-T c.5337C>A p.Y1779* Nonsense 38/50 - 2
1-94480226-A-G c.5333T>C p.M1778T Missense 38/50 - 1
1-94480227-T-A c.5332A>T p.M1778L Missense 38/50 - 1
1-94480230-T-A c.5329A>T p.M1777L Missense 38/50 - 2
1-94480230-T-C c.5329A>G p.M1777V Missense 38/50 - 1
1-94480232-G-A c.5327C>T p.P1776L Missense 38/50 - 2
1-94480235-A-T c.5324T>A p.I1775N Missense 38/50 - 1
1-94480241-G-A c.5318C>T p.A1773V Missense 38/50 - 35
1-94480241-G-T c.5318C>A p.A1773E Missense 38/50 - 2
1-94480243-C-T c.5316G>A p.W1772* Nonsense 38/50 - 4
1-94480244-C-T c.5315G>A p.W1772* Nonsense 38/50 - 2
1-94480439-T-C c.5313-193A>G - IntronicSNV - 37/49 1
1-94481068-A-G c.5312+227T>C - IntronicSNV - 37/49 1
1-94481292-T-A c.5312+3A>T - IntronicSNV - 37/49 3
1-94481293-A-C c.5312+2T>G - IntronicSNV - 37/49 2
1-94481294-C-T c.5312+1G>A - IntronicSNV - 37/49 9
1-94481296-C-T c.5311G>A p.G1771R Missense 37/50 - 3
1-94481299-A-C c.5308T>G p.Y1770D Missense 37/50 - 2
1-94481307-A-G c.5300T>C p.L1767P Missense 37/50 - 1
1-94481317-AC-A c.5290del p.V1764Wfs*14 Frameshift 37/50 - 1
1-94481317-C-T c.5290G>A p.V1764M Missense 37/50 - 1
1-94481317-CA-C c.5289del p.V1764Wfs*14 Frameshift 37/50 - 1
1-94481319-A-G c.5288T>C p.L1763P Missense 37/50 - 1
1-94481322-G-T c.5285C>A p.A1762D Missense 37/50 - 3
1-94481325-G-C c.5282C>G p.P1761R Missense 37/50 - 2
1-94481346-T-C c.5261A>G p.Y1754C Missense 37/50 - 1
1-94481359-G-A c.5248C>T p.Q1750* Nonsense 37/50 - 1
1-94481364-C-T c.5243G>A p.G1748E Missense 37/50 - 2
1-94481365-C-G c.5242G>C p.G1748R Missense 37/50 - 1
1-94481365-C-T c.5242G>A p.G1748R Missense 37/50 - 3
1-94481374-TGCCCACCACCA-T c.5222_5232del p.L1741Hfs*42 Frameshift 37/50 - 1
1-94481380-C-T c.5227G>A p.V1743M Missense 37/50 - 1
1-94481388-C-T c.5219G>A p.G1740E Missense 37/50 - 1
1-94481405-AT-A c.5201del p.N1734Ifs*4 Frameshift 37/50 - 1
1-94481409-A-C c.5198T>G p.M1733R Missense 37/50 - 1
1-94481409-A-G c.5198T>C p.M1733T Missense 37/50 - 1
1-94481409-AT-TA c.5197_5198delinsTA p.M1733* Nonsense 37/50 - 1
1-94481409-CAT-C c.5197_5198del p.M1733Efs*53 SpliceAcceptorDeletion 37/50 - 2
1-94481414-G-A c.5197-4C>T - IntronicSNV - 36/49 1
1-94481414-G-T c.5197-4C>A - IntronicSNV - 36/49 1
1-94483524-C-T c.5196+1614G>A - IntronicSNV - 36/49 1
1-94483922-G-A c.5196+1216C>T - IntronicSNV - 36/49 1
1-94483922-G-T c.5196+1216C>A - IntronicSNV - 36/49 6
1-94483979-C-T c.5196+1159G>A - IntronicSNV - 36/49 2
1-94484001-C-A c.5196+1137G>T - IntronicSNV - 36/49 1
1-94484001-C-T c.5196+1137G>A - IntronicSNV - 36/49 20
1-94484002-G-T c.5196+1136C>A - IntronicSNV - 36/49 2
1-94484059-AT-A c.5196+1078del - IntronicDeletion - 36/49 1
1-94484082-T-C c.5196+1056A>G - IntronicSNV - 36/49 12
1-94484123-T-C c.5196+1015A>G - IntronicSNV - 36/49 2
1-94484125-T-C c.5196+1013A>G - IntronicSNV - 36/49 3
1-94484239-G-A c.5196+899C>T - IntronicSNV - 36/49 3
1-94484367-C-T c.5196+771G>A - IntronicSNV - 36/49 1
1-94484903-C-T c.5196+235G>A - IntronicSNV - 36/49 1
1-94485129-GACACTT-G c.5196+3_5196+8del - IntronicDeletion - 36/49 1
1-94485131-CACTT-C c.5196+3_5196+6del - SpliceDonorDeletion - 36/49 1
1-94485133-CT-C c.5196+4del - IntronicDeletion - 36/49 1
1-94485136-A-C c.5196+2T>G - IntronicSNV - 36/49 1
1-94485136-A-G c.5196+2T>C - IntronicSNV - 36/49 2
1-94485137-C-T c.5196+1G>A - IntronicSNV - 36/49 15
1-94485145-C-T c.5189G>A p.W1730* Nonsense 36/50 - 1
1-94485148-A-G c.5186T>C p.L1729P Missense 36/50 - 2
1-94485157-G-GC c.5176_5177insG p.T1726Sfs*61 Frameshift 36/50 - 1
1-94485157-G-T c.5177C>A p.T1726N Missense 36/50 - 2
1-94485158-T-TC c.5175dup p.T1726Dfs*61 Frameshift 36/50 - 2
1-94485162-C-A c.5172G>T p.W1724C Missense 36/50 - 3
1-94485162-C-T c.5172G>A p.W1724* Nonsense 36/50 - 1
1-94485165-G-C c.5169C>G p.Y1723* Nonsense 36/50 - 2
1-94485166-T-C c.5168A>G p.Y1723C Missense 36/50 - 1
1-94485167-A-G c.5167T>C p.Y1723H Missense 36/50 - 1
1-94485171-GGT-G c.5161_5162del p.T1721Hfs*65 Frameshift 36/50 - 2
1-94485193-A-G c.5141T>C p.F1714S Missense 36/50 - 1
1-94485196-T-C c.5138A>G p.Q1713R Missense 36/50 - 3
1-94485197-G-T c.5137C>A p.Q1713K Missense 36/50 - 1
1-94485217-AC-TA c.5116_5117delinsTA p.V1706* Nonsense 36/50 - 1
1-94485217-AC-A c.5116del p.V1706* Frameshift 36/50 - 1
1-94485220-C-A c.5114G>T p.R1705L Missense 36/50 - 2
1-94485220-C-T c.5114G>A p.R1705Q Missense 36/50 - 4
1-94485221-G-A c.5113C>T p.R1705W Missense 36/50 - 5
1-94485226-TG-GC c.5107_5108delinsGC p.Q1703A Missense 36/50 - 1
1-94485227-G-C c.5107C>G p.Q1703E Missense 36/50 - 1
1-94485227-G-T c.5107C>A p.Q1703K Missense 36/50 - 1
1-94485234-A-C c.5100T>G p.Y1700* Nonsense 36/50 - 1
1-94485242-C-A c.5092G>T p.V1698F Missense 36/50 - 1
1-94485246-G-C c.5088C>G p.S1696R Missense 36/50 - 1
1-94485247-C-A c.5087G>T p.S1696I Missense 36/50 - 1
1-94485247-C-T c.5087G>A p.S1696N Missense 36/50 - 12
1-94485250-G-T c.5084C>A p.A1695D Missense 36/50 - 1
1-94485257-C-T c.5077G>A p.V1693I Missense 36/50 - 1
1-94485269-A-G c.5065T>C p.S1689P Missense 36/50 - 3
1-94485275-AT-A c.5059del p.I1687Ffs*15 Frameshift 36/50 - 1
1-94485276-TCAC-T c.5056_5058del p.V1686del InFrameDeletion 36/50 - 4
1-94485278-C-T c.5056G>A p.V1686M Missense 36/50 - 6
1-94485275-TCACGCAGATGGCAAC-T c.5044_5058del p.V1682_V1686del InFrameDeletion 36/50 - 11
1-94485278-CGCA-C c.5053_5055del p.C1685del InFrameDeletion 36/50 - 1
1-94485304-GA-TC c.5029_5030inv p.S1677E Missense 36/50 - 1
1-94485305-A-C c.5029T>G p.S1677A Missense 36/50 - 1
1-94485308-T-G c.5026A>C p.T1676P Missense 36/50 - 1
1-94486507-A-G c.5018+289T>C - IntronicSNV - 35/49 1
1-94486587-G-T c.5018+209C>A - IntronicSNV - 35/49 1
1-94486667-T-G c.5018+129A>C - IntronicSNV - 35/49 1
1-94486788-T-C c.5018+8A>G - IntronicSNV - 35/49 2
1-94486791-C-T c.5018+5G>A - IntronicSNV - 35/49 3
1-94486794-A-G c.5018+2T>C - IntronicSNV - 35/49 12
1-94486794-A-T c.5018+2T>A - IntronicSNV - 35/49 1
1-94486796-A-AC c.5017dup p.V1673Gfs*114 SpliceDonorInsertion 35/50 - 1
1-94486797-C-CA c.5016_5017insT p.V1673Cfs*114 SpliceDonorInsertion 35/50 - 1
1-94486797-C-CG c.5016_5017insC p.V1673Rfs*114 SpliceDonorInsertion 35/50 - 1
1-94486797-C-CT c.5016dup p.V1673Sfs*114 SpliceDonorInsertion 35/50 - 1
1-94486815-G-T c.4999C>A p.Q1667K Missense 35/50 - 1
1-94486818-C-A c.4996G>T p.E1666* Nonsense 35/50 - 1
1-94486835-G-A c.4979C>T p.P1660L Missense 35/50 - 1
1-94486832-AG-A c.4981del p.L1661* Frameshift 35/50 - 1
1-94486836-G-A c.4978C>T p.P1660S Missense 35/50 - 2
1-94486842-T-G c.4972A>C p.S1658R Missense 35/50 - 1
1-94486856-C-T c.4958G>A p.G1653E Missense 35/50 - 1
1-94486858-A-C c.4956T>G p.Y1652* Nonsense 35/50 - 3
1-94486858-A-G c.4956T>C p.Y1652= Synonymous 35/50 - 1
1-94486866-C-A c.4948G>T p.E1650* Nonsense 35/50 - 1
1-94486866-CG-C c.4947del p.E1650Rfs*12 Frameshift 35/50 - 2
1-94486888-G-C c.4926C>G p.S1642R Missense 35/50 - 9
1-94486889-C-A c.4925G>T p.S1642I Missense 35/50 - 1
1-94486895-CG-TC c.4918_4919delinsGA p.R1640E Missense 35/50 - 1
1-94486895-C-T c.4919G>A p.R1640Q Missense 35/50 - 22
1-94486896-G-A c.4918C>T p.R1640W Missense 35/50 - 24
1-94486908-T-A c.4906A>T p.N1636Y Missense 35/50 - 1
1-94486914-C-T c.4900G>A p.A1634T Missense 35/50 - 1
1-94486922-A-G c.4892T>C p.L1631P Missense 35/50 - 2
1-94486934-CA-C c.4880del p.L1627Rfs*35 Frameshift 35/50 - 1
1-94486939-A-T c.4875T>A p.H1625Q Missense 35/50 - 2
1-94486941-G-A c.4873C>T p.H1625Y Missense 35/50 - 2
1-94486942-C-T c.4872G>A p.W1624* Nonsense 35/50 - 1
1-94486959-A-G c.4855T>C p.F1619L Missense 35/50 - 1
1-94486960-C-G c.4854G>C p.W1618C Missense 35/50 - 1
1-94486960-C-T c.4854G>A p.W1618* Nonsense 35/50 - 1
1-94486961-C-T c.4853G>A p.W1618* Nonsense 35/50 - 1
1-94486965-C-T c.4849G>A p.V1617M Missense 35/50 - 1
1-94487194-A-G c.4848+2T>C - IntronicSNV - 34/49 1
1-94487195-C-A c.4848+1G>T - IntronicSNV - 34/49 1
1-94487198-TA-T c.4845del p.K1616Rfs*46 Frameshift 34/50 - 2
1-94487200-ATGT-A c.4841_4843del p.N1614del InFrameDeletion 34/50 - 1
1-94487207-C-T c.4837G>A p.D1613N Missense 34/50 - 2
1-94487239-AT-A c.4804del p.I1602Yfs*8 Frameshift 34/50 - 1
1-94487251-G-C c.4793C>G p.A1598G Missense 34/50 - 1
1-94487251-G-T c.4793C>A p.A1598D Missense 34/50 - 29
1-94487269-C-T c.4775G>A p.G1592D Missense 34/50 - 3
1-94487354-G-A c.4773+48C>T - IntronicSNV - 33/49 3
1-94487397-C-T c.4773+5G>A - IntronicSNV - 33/49 1
1-94487399-T-C c.4773+3A>G - IntronicSNV - 33/49 15
1-94487401-C-A c.4773+1G>T - IntronicSNV - 33/49 6
1-94487401-C-T c.4773+1G>A - IntronicSNV - 33/49 3
1-94487402-C-G c.4773G>C p.G1591= Synonymous 33/50 - 3
1-94487404-C-T c.4771G>A p.G1591R Missense 33/50 - 5
1-94487413-T-A c.4762A>T p.N1588Y Missense 33/50 - 2
1-94487427-A-G c.4748T>C p.L1583P Missense 33/50 - 5
1-94487436-AAAAAC-GG c.4734_4739delinsCC p.F1579Qfs*8 Frameshift 33/50 - 1
1-94487436-A-G c.4739T>C p.L1580S Missense 33/50 - 4
1-94487435-TA-T c.4739del p.L1580* Frameshift 33/50 - 2
1-94487440-AC-A c.4734del p.L1580* Frameshift 33/50 - 2
1-94487442-CCAA-C c.4730_4732del p.V1577del InFrameDeletion 33/50 - 1
1-94487451-G-A c.4724C>T p.A1575V Missense 33/50 - 1
1-94487455-C-A c.4720G>T p.E1574* Nonsense 33/50 - 5
1-94487460-G-A c.4715C>T p.T1572M Missense 33/50 - 1
1-94487467-G-A c.4708C>T p.P1570S Missense 33/50 - 1
1-94487464-TG-T c.4710del p.I1571Sfs*10 Frameshift 33/50 - 1
1-94487475-G-A c.4700C>T p.P1567L Missense 33/50 - 1
1-94487479-G-A c.4696C>T p.L1566F Missense 33/50 - 1
1-94487490-A-G c.4685T>C p.I1562T Missense 33/50 - 9
1-94487502-C-T c.4673G>A p.G1558E Missense 33/50 - 1
1-94487503-C-G c.4672G>C p.G1558R Missense 33/50 - 1
1-94487503-C-T c.4672G>A p.G1558R Missense 33/50 - 3
1-94487505-T-C c.4670A>G p.Y1557C Missense 33/50 - 9
1-94488940-A-G c.4667+2T>C - IntronicSNV - 32/49 2
1-94488941-C-T c.4667+1G>A - IntronicSNV - 32/49 3
1-94488942-C-G c.4667G>C p.R1556T Missense 32/50 - 1
1-94488942-C-T c.4667G>A p.R1556K Missense 32/50 - 2
1-94488943-CT-C c.4666del p.R1556Gfs*25 Frameshift 32/50 - 1
1-94488944-TCTG-T c.4663_4665del p.Q1555del InFrameDeletion 32/50 - 2
1-94488948-T-C c.4661A>G p.E1554G Missense 32/50 - 2
1-94488970-T-A c.4639A>T p.K1547* Nonsense 32/50 - 3
1-94488968-CT-C c.4640del p.K1547Rfs*34 Frameshift 32/50 - 1
1-94488972-A-C c.4637T>G p.L1546* Nonsense 32/50 - 1
1-94488972-A-T c.4637T>A p.L1546* Nonsense 32/50 - 1
1-94488974-AG-A c.4635del p.L1546* Frameshift 32/50 - 1
1-94488974-G-A c.4635C>T p.S1545= Synonymous 32/50 - 1
1-94489769-T-C c.4634+741A>G - IntronicSNV - 31/49 2
1-94490509-C-A c.4634+1G>T - IntronicSNV - 31/49 1
1-94490510-C-T c.4634G>A p.S1545N Missense 31/50 - 2
1-94490522-A-G c.4622T>C p.L1541P Missense 31/50 - 2
1-94490533-C-T c.4611G>A p.T1537= Synonymous 31/50 - 1
1-94490534-G-A c.4610C>T p.T1537M Missense 31/50 - 5
1-94490534-G-GT c.4609dup p.T1537Nfs*18 Frameshift 31/50 - 1
1-94490534-GT-G c.4609del p.T1537Rfs*6 Frameshift 31/50 - 1
1-94490539-T-TA c.4604dup p.T1537Nfs*18 Frameshift 31/50 - 1
1-94490542-CA-C c.4601del p.L1534Wfs*2 Frameshift 31/50 - 1
1-94490550-C-T c.4594G>A p.D1532N Missense 31/50 - 11
1-94490552-G-A c.4592C>T p.S1531F Missense 31/50 - 1
1-94490558-T-C c.4586A>G p.N1529S Missense 31/50 - 1
1-94490566-C-A c.4578G>T p.T1526= Synonymous 31/50 - 1
1-94490566-C-G c.4578G>C p.T1526= Synonymous 31/50 - 1
1-94490566-C-T c.4578G>A p.T1526= Synonymous 31/50 - 2
1-94490567-G-A c.4577C>T p.T1526M Missense 31/50 - 27
1-94490568-T-C c.4576A>G p.T1526A Missense 31/50 - 1
1-94490570-A-C c.4574T>G p.L1525R Missense 31/50 - 1
1-94490573-T-C c.4571A>G p.D1524G Missense 31/50 - 1
1-94490582-AT-A c.4561del p.I1521Ffs*5 Frameshift 31/50 - 1
1-94490588-G-A c.4556C>T p.T1519M Missense 31/50 - 1
1-94490589-GT-G c.4555del p.T1519Rfs*7 Frameshift 31/50 - 3
1-94490591-C-T c.4553G>A p.S1518N Missense 31/50 - 1
1-94490592-T-G c.4552A>C p.S1518R Missense 31/50 - 1
1-94490594-C-T c.4550G>A p.R1517H Missense 31/50 - 1
1-94490597-T-C c.4547A>G p.Q1516R Missense 31/50 - 1
1-94490596-CTG-C c.4546_4547del p.Q1516Afs*38 Frameshift 31/50 - 2
1-94490606-T-C c.4540-2A>G - IntronicSNV - 30/49 1
1-94492936-G-C c.4539+2065C>G - IntronicSNV - 30/49 2
1-94492937-G-A c.4539+2064C>T - IntronicSNV - 30/49 10
1-94492973-G-A c.4539+2028C>T - IntronicSNV - 30/49 20
1-94493000-C-A c.4539+2001G>T - IntronicSNV - 30/49 1
1-94493000-C-T c.4539+2001G>A - IntronicSNV - 30/49 26
1-94493030-A-G c.4539+1971T>C - IntronicSNV - 30/49 1
1-94493073-G-A c.4539+1928C>T - IntronicSNV - 30/49 1
1-94493231-G-T c.4539+1770C>A - IntronicSNV - 30/49 1
1-94493272-C-A c.4539+1729G>T - IntronicSNV - 30/49 4
1-94493833-G-C c.4539+1168C>G - IntronicSNV - 30/49 1
1-94493895-G-A c.4539+1106C>T - IntronicSNV - 30/49 3
1-94493901-T-C c.4539+1100A>G - IntronicSNV - 30/49 1
1-94494999-A-C c.4539+2T>G - IntronicSNV - 30/49 1
1-94495000-C-A c.4539+1G>T - IntronicSNV - 30/49 6
1-94495001-CCTG-C c.4537_4539del p.Q1513del InFrameDeletion 30/50 - 1
1-94495001-C-T c.4539G>A p.Q1513= Synonymous 30/50 - 1
1-94495002-T-C c.4538A>G p.Q1513R Missense 30/50 - 5
1-94495002-T-G c.4538A>C p.Q1513P Missense 30/50 - 4
1-94495003-G-C c.4537C>G p.Q1513E Missense 30/50 - 1
1-94495005-G-C c.4535C>G p.P1512R Missense 30/50 - 1
1-94495002-TGGG-T c.4535_4537del p.P1512del InFrameDeletion 30/50 - 1
1-94495008-G-C c.4532C>G p.P1511R Missense 30/50 - 1
1-94495002-TG-T c.4537del p.Q1513Rfs*13 Frameshift 30/50 - 5
1-94495002-T-TG c.4537dup p.Q1513Pfs*42 Frameshift 30/50 - 12
1-94495004-GGGGGGCGGGAGGCCCCCGGCACCCTC-G c.4510_4535del p.E1504Pfs*42 Frameshift 30/50 - 1
1-94495021-C-T c.4519G>A p.G1507R Missense 30/50 - 4
1-94495034-G-A c.4506C>T p.C1502= Synonymous 30/50 - 4
1-94495034-G-T c.4506C>A p.C1502* Nonsense 30/50 - 5
1-94495035-C-T c.4505G>A p.C1502Y Missense 30/50 - 1
1-94495036-A-C c.4504T>G p.C1502G Missense 30/50 - 1
1-94495036-A-G c.4504T>C p.C1502R Missense 30/50 - 1
1-94495044-A-G c.4496T>C p.L1499P Missense 30/50 - 1
1-94495060-C-A c.4480G>T p.E1494* Nonsense 30/50 - 2
1-94495071-C-T c.4469G>A p.C1490Y Missense 30/50 - 40
1-94495072-A-ATTTC c.4467_4468insGAAA p.C1490Efs*66 Frameshift 30/50 - 1
1-94495072-A-G c.4468T>C p.C1490R Missense 30/50 - 2
1-94495073-C-A c.4467G>T p.R1489S Missense 30/50 - 1
1-94495077-C-T c.4463G>A p.C1488Y Missense 30/50 - 1
1-94495078-A-G c.4462T>C p.C1488R Missense 30/50 - 22
1-94495083-G-A c.4457C>T p.P1486L Missense 30/50 - 23
1-94495090-G-A c.4450C>T p.P1484S Missense 30/50 - 2
1-94495094-G-T c.4446C>A p.V1482= Synonymous 30/50 - 1
1-94495103-C-T c.4437G>A p.W1479* Nonsense 30/50 - 3
1-94495104-C-T c.4436G>A p.W1479* Nonsense 30/50 - 1
1-94495123-G-T c.4417C>A p.L1473M Missense 30/50 - 3
1-94495135-T-C c.4405A>G p.N1469D Missense 30/50 - 1
1-94495150-G-C c.4390C>G p.P1464A Missense 30/50 - 2
1-94495157-C-G c.4383G>C p.W1461C Missense 30/50 - 2
1-94495157-C-T c.4383G>A p.W1461* Nonsense 30/50 - 4
1-94495158-C-T c.4382G>A p.W1461* Nonsense 30/50 - 2
1-94495167-G-C c.4373C>G p.S1458* Nonsense 30/50 - 1
1-94495177-A-G c.4363T>C p.C1455R Missense 30/50 - 8
1-94495181-G-T c.4359C>A p.Y1453* Nonsense 30/50 - 1
1-94495186-C-A c.4354G>T p.E1452* Nonsense 30/50 - 4
1-94495915-T-C c.4352+69A>G - IntronicSNV - 29/49 1
1-94495923-C-T c.4352+61G>A - IntronicSNV - 29/49 4
1-94495930-T-A c.4352+54A>T - IntronicSNV - 29/49 1
1-94495930-T-C c.4352+54A>G - IntronicSNV - 29/49 2
1-94495952-T-C c.4352+32A>G - IntronicSNV - 29/49 1
1-94495980-T-G c.4352+4A>C - IntronicSNV - 29/49 1
1-94495983-C-T c.4352+1G>A - IntronicSNV - 29/49 8
1-94495989-C-A c.4347G>T p.W1449C Missense 29/50 - 1
1-94495990-C-T c.4346G>A p.W1449* Nonsense 29/50 - 2
1-94495996-T-A c.4340A>T p.E1447V Missense 29/50 - 1
1-94496008-C-T c.4328G>A p.R1443H Missense 29/50 - 11
1-94496010-G-T c.4326C>A p.N1442K Missense 29/50 - 4
1-94496014-C-T c.4322G>A p.G1441D Missense 29/50 - 2
1-94496016-CAAA-C c.4318_4320del p.F1440del InFrameDeletion 29/50 - 1
1-94496017-A-G c.4319T>C p.F1440S Missense 29/50 - 5
1-94496015-CA-C c.4320del p.F1440Lfs*6 Frameshift 29/50 - 4
1-94496018-A-C c.4318T>G p.F1440V Missense 29/50 - 1
1-94496020-C-T c.4316G>A p.G1439D Missense 29/50 - 1
1-94496029-T-A c.4307A>T p.N1436I Missense 29/50 - 2
1-94496039-C-T c.4297G>A p.V1433I Missense 29/50 - 16
1-94496047-A-G c.4289T>C p.L1430P Missense 29/50 - 2
1-94496053-G-A c.4283C>T p.T1428M Missense 29/50 - 9
1-94496080-A-G c.4256T>C p.M1419T Missense 29/50 - 2
1-94496082-G-T c.4254C>A p.S1418R Missense 29/50 - 1
1-94496253-G-A c.4254-171C>T - IntronicSNV - 28/49 1
1-94496253-G-C c.4254-171C>G - IntronicSNV - 28/49 1
1-94496253-G-T c.4254-171C>A - IntronicSNV - 28/49 1
1-94496509-C-T c.4253+43G>A - IntronicSNV - 28/49 16
1-94496540-G-A c.4253+12C>T - IntronicSNV - 28/49 1
1-94496547-C-A c.4253+5G>T - IntronicSNV - 28/49 2
1-94496547-C-T c.4253+5G>A - IntronicSNV - 28/49 7
1-94496548-G-A c.4253+4C>T - IntronicSNV - 28/49 8
1-94496557-G-T c.4248C>A p.F1416L Missense 28/50 - 3
1-94496553-TGAA-T c.4249_4251del p.F1417del InFrameDeletion 28/50 - 3
1-94496568-G-A c.4237C>T p.Q1413* Nonsense 28/50 - 1
1-94496571-G-A c.4234C>T p.Q1412* Nonsense 28/50 - 28
1-94496581-C-T c.4224G>A p.W1408* Nonsense 28/50 - 2
1-94496582-C-A c.4223G>T p.W1408L Missense 28/50 - 2
1-94496582-C-T c.4223G>A p.W1408* Nonsense 28/50 - 1
1-94496583-A-G c.4222T>C p.W1408R Missense 28/50 - 15
1-94496583-A-T c.4222T>A p.W1408R Missense 28/50 - 3
1-94496588-GT-G c.4217del p.H1406Pfs*30 Frameshift 28/50 - 1
1-94496588-T-C c.4217A>G p.H1406R Missense 28/50 - 3
1-94496589-G-A c.4216C>T p.H1406Y Missense 28/50 - 4
1-94496589-TG-T c.4216del p.H1406Tfs*30 Frameshift 28/50 - 2
1-94496602-G-A c.4203C>T p.P1401= Synonymous 28/50 - 6
1-94496602-G-T c.4203C>A p.P1401= Synonymous 28/50 - 8
1-94496601-CG-C c.4203del p.A1402Lfs*2 Frameshift 28/50 - 1
1-94496605-G-T c.4200C>A p.Y1400* Nonsense 28/50 - 5
1-94496610-C-A c.4195G>T p.E1399* Nonsense 28/50 - 2
1-94496610-C-T c.4195G>A p.E1399K Missense 28/50 - 3
1-94496613-CAAA-C c.4189_4191del p.F1397del InFrameDeletion 28/50 - 1
1-94496623-G-A c.4182C>T p.I1394= Synonymous 28/50 - 1
1-94496623-G-T c.4182C>A p.I1394= Synonymous 28/50 - 1
1-94496625-TA-T c.4179del p.I1394Sfs*10 Frameshift 28/50 - 1
1-94496628-C-CG c.4176_4177insC p.V1393Rfs*29 Frameshift 28/50 - 4
1-94496628-C-T c.4177G>A p.V1393I Missense 28/50 - 2
1-94496636-A-G c.4169T>C p.L1390P Missense 28/50 - 2
1-94496642-A-G c.4163T>C p.L1388P Missense 28/50 - 1
1-94496665-C-A c.4140G>T p.P1380= Synonymous 28/50 - 1
1-94496665-C-G c.4140G>C p.P1380= Synonymous 28/50 - 1
1-94496665-C-T c.4140G>A p.P1380= Synonymous 28/50 - 2
1-94496666-G-A c.4139C>T p.P1380L Missense 28/50 - 68
1-94496666-GG-TT c.4138_4139delinsAA p.P1380K Missense 28/50 - 1
1-94496667-G-A c.4138C>T p.P1380S Missense 28/50 - 1
1-94497333-C-A c.4128+1G>T - IntronicSNV - 27/49 1
1-94497333-C-T c.4128+1G>A - IntronicSNV - 27/49 2
1-94497334-C-G c.4128G>C p.Q1376H Missense 27/50 - 1
1-94497334-C-T c.4128G>A p.Q1376= Synonymous 27/50 - 1
1-94497337-C-A c.4125G>T p.A1375= Synonymous 27/50 - 1
1-94497337-C-G c.4125G>C p.A1375= Synonymous 27/50 - 1
1-94497337-C-T c.4125G>A p.A1375= Synonymous 27/50 - 1
1-94497338-G-T c.4124C>A p.A1375E Missense 27/50 - 1
1-94497350-TT-GC c.4111_4112delinsGC p.K1371A Missense 27/50 - 1
1-94497360-G-A c.4102C>T p.R1368C Missense 27/50 - 2
1-94497362-A-G c.4100T>C p.I1367T Missense 27/50 - 1
1-94497377-C-A c.4085G>T p.R1362I Missense 27/50 - 1
1-94497382-G-C c.4080C>G p.V1360= Synonymous 27/50 - 1
1-94497392-G-A c.4070C>T p.A1357V Missense 27/50 - 5
1-94497392-G-T c.4070C>A p.A1357E Missense 27/50 - 3
1-94497393-C-T c.4069G>A p.A1357T Missense 27/50 - 4
1-94497396-G-A c.4066C>T p.Q1356* Nonsense 27/50 - 1
1-94497424-CGT-C c.4036_4037del p.T1346Gfs*75 Frameshift 27/50 - 4
1-94497456-C-CT c.4005dup p.E1336Rfs*86 Frameshift 27/50 - 1
1-94497457-TGG-T c.4003_4004del p.P1335Rfs*86 Frameshift 27/50 - 2
1-94497462-G-GGGT c.3999_4000insACC p.P1333_P1334insT InFrameInsertion 27/50 - 1
1-94497462-G-GTCTGGGGT c.3999_4000insACCCCAGA p.P1334Tfs*58 Frameshift 27/50 - 1
1-94497468-G-A c.3994C>T p.Q1332* Nonsense 27/50 - 2
1-94497474-C-A c.3988G>T p.E1330* Nonsense 27/50 - 4
1-94497474-CTGGG-C c.3984_3987del p.H1328Qfs*60 Frameshift 27/50 - 1
1-94497490-C-A c.3972G>T p.A1324= Synonymous 27/50 - 1
1-94497490-C-G c.3972G>C p.A1324= Synonymous 27/50 - 1
1-94497490-C-T c.3972G>A p.A1324= Synonymous 27/50 - 1
1-94497491-GC-G c.3970del p.A1324Rfs*65 Frameshift 27/50 - 1
1-94497519-G-A c.3943C>T p.Q1315* Nonsense 27/50 - 4
1-94497521-G-A c.3941C>T p.P1314L Missense 27/50 - 2
1-94497563-C-T c.3899G>A p.R1300Q Missense 27/50 - 16
1-94497564-G-A c.3898C>T p.R1300* Nonsense 27/50 - 12
1-94497588-G-A c.3874C>T p.Q1292* Nonsense 27/50 - 4
1-94497591-G-A c.3871C>T p.Q1291* Nonsense 27/50 - 2
1-94502293-T-C c.3862+3A>G - IntronicSNV - 26/49 1
1-94502295-C-T c.3862+1G>A - IntronicSNV - 26/49 3
1-94502296-C-T c.3862G>A p.G1288S Missense 26/50 - 1
1-94502298-G-A c.3860C>T p.A1287V Missense 26/50 - 1
1-94502312-CT-C c.3846del p.G1283Dfs*106 Frameshift 26/50 - 3
1-94502312-TGAATCA-T c.3840_3845del p.D1281_S1282del InFrameDeletion 26/50 - 1
1-94502321-ATCC-A c.3834_3836del p.E1278del InFrameDeletion 26/50 - 1
1-94502326-C-A c.3832G>T p.E1278* Nonsense 26/50 - 1
1-94502327-CGT-ACA c.3829_3831delinsTGT p.T1277C Missense 26/50 - 2
1-94502328-G-A c.3830C>T p.T1277M Missense 26/50 - 4
1-94502333-C-G c.3825G>C p.K1275N Missense 26/50 - 1
1-94502700-C-G c.3813+1G>C - IntronicSNV - 25/49 1
1-94502701-C-A c.3813G>T p.E1271D Missense 25/50 - 2
1-94502701-C-G c.3813G>C p.E1271D Missense 25/50 - 6
1-94502701-C-T c.3813G>A p.E1271= Synonymous 25/50 - 1
1-94502702-T-C c.3812A>G p.E1271G Missense 25/50 - 4
1-94502703-C-G c.3811G>C p.E1271Q Missense 25/50 - 1
1-94502704-T-A c.3810A>T p.E1270D Missense 25/50 - 1
1-94502706-C-A c.3808G>T p.E1270* Nonsense 25/50 - 2
1-94502708-A-G c.3806T>C p.L1269P Missense 25/50 - 2
1-94502719-AG-TT c.3794_3795delinsAA p.S1265* Nonsense 25/50 - 1
1-94502720-G-C c.3794C>G p.S1265C Missense 25/50 - 1
1-94502731-A-C c.3783T>G p.S1261R Missense 25/50 - 1
1-94502733-T-C c.3781A>G p.S1261G Missense 25/50 - 1
1-94502755-C-A c.3759G>T p.T1253= Synonymous 25/50 - 2
1-94502755-C-G c.3759G>C p.T1253= Synonymous 25/50 - 2
1-94502755-C-T c.3759G>A p.T1253= Synonymous 25/50 - 2
1-94502756-G-A c.3758C>T p.T1253M Missense 25/50 - 17
1-94502757-T-C c.3757A>G p.T1253A Missense 25/50 - 1
1-94502760-C-A c.3754G>T p.E1252* Nonsense 25/50 - 2
1-94502765-A-G c.3749T>C p.L1250P Missense 25/50 - 2
1-94502771-C-T c.3743G>A p.R1248K Missense 25/50 - 1
1-94502780-C-T c.3734G>A p.S1245N Missense 25/50 - 1
1-94502787-A-C c.3727T>G p.Y1243D Missense 25/50 - 1
1-94502793-T-A c.3721A>T p.R1241* Nonsense 25/50 - 1
1-94502831-T-C c.3683A>G p.E1228G Missense 25/50 - 1
1-94502832-C-T c.3682G>A p.E1228K Missense 25/50 - 1
1-94502837-C-T c.3677G>A p.G1226D Missense 25/50 - 1
1-94502859-C-G c.3655G>C p.A1219P Missense 25/50 - 2
1-94502880-C-A c.3634G>T p.V1212F Missense 25/50 - 1
1-94502896-AT-A c.3617del p.N1206Mfs*3 Frameshift 25/50 - 1
1-94502904-C-T c.3610G>A p.D1204N Missense 25/50 - 2
1-94502906-C-T c.3608G>A p.G1203E Missense 25/50 - 3
1-94504545-C-A c.3607+1054G>T - IntronicSNV - 24/49 1
1-94504545-C-T c.3607+1054G>A - IntronicSNV - 24/49 1
1-94505596-T-A c.3607+3A>T - IntronicSNV - 24/49 3
1-94505599-C-A c.3607G>T p.G1203W Missense 24/50 - 1
1-94505599-C-G c.3607G>C p.G1203R Missense 24/50 - 1
1-94505599-C-T c.3607G>A p.G1203R Missense 24/50 - 6
1-94505604-A-C c.3602T>G p.L1201R Missense 24/50 - 20
1-94505611-G-A c.3595C>T p.Q1199* Nonsense 24/50 - 1
1-94505621-T-TAC c.3584_3585insGT p.T1196* Nonsense 24/50 - 1
1-94505650-TGGAGAAACCCTTAGAC-T c.3540_3555del p.S1181Pfs*10 Frameshift 24/50 - 1
1-94505650-TG-T c.3555del p.T1186Pfs*10 Frameshift 24/50 - 1
1-94505659-C-A c.3547G>T p.G1183C Missense 24/50 - 3
1-94505663-TA-T c.3543del p.K1182Rfs*14 Frameshift 24/50 - 1
1-94505667-CG-C c.3539del p.S1180Cfs*16 Frameshift 24/50 - 1
1-94505675-G-T c.3531C>A p.C1177* Nonsense 24/50 - 2
1-94505682-CC-TA c.3523_3524delinsTA p.G1175* Nonsense 24/50 - 1
1-94506734-G-T c.3522+31C>A - IntronicSNV - 23/49 1
1-94506759-AC-A c.3522+5del - IntronicDeletion - 23/49 2
1-94506780-T-C c.3507A>G p.Q1169= Synonymous 23/50 - 1
1-94506805-C-A c.3482G>T p.R1161L Missense 23/50 - 1
1-94506805-C-T c.3482G>A p.R1161H Missense 23/50 - 3
1-94506806-CG-C c.3481del p.R1161Afs*3 Frameshift 23/50 - 1
1-94506806-G-A c.3481C>T p.R1161C Missense 23/50 - 1
1-94506806-G-T c.3481C>A p.R1161S Missense 23/50 - 2
1-94506811-A-G c.3476T>C p.L1159S Missense 23/50 - 2
1-94506817-A-C c.3470T>G p.L1157* Nonsense 23/50 - 5
1-94506817-A-T c.3470T>A p.L1157* Nonsense 23/50 - 1
1-94506819-G-C c.3468C>G p.Y1156* Nonsense 23/50 - 1
1-94506835-AAGC-A c.3449_3451del p.C1150del InFrameDeletion 23/50 - 1
1-94506843-C-A c.3444G>T p.K1148N Missense 23/50 - 1
1-94506845-T-C c.3442A>G p.K1148E Missense 23/50 - 1
1-94506867-G-C c.3420C>G p.C1140W Missense 23/50 - 4
1-94506871-T-C c.3416A>G p.Y1139C Missense 23/50 - 1
1-94506872-A-C c.3415T>G p.Y1139D Missense 23/50 - 1
1-94506874-A-G c.3413T>C p.L1138P Missense 23/50 - 4
1-94506874-A-T c.3413T>A p.L1138H Missense 23/50 - 2
1-94506878-T-C c.3409A>G p.R1137G Missense 23/50 - 2
1-94506880-C-A c.3407G>T p.G1136V Missense 23/50 - 2
1-94506889-A-G c.3398T>C p.I1133T Missense 23/50 - 2
1-94506892-A-G c.3395T>C p.I1132T Missense 23/50 - 1
1-94506893-TG-T c.3393del p.I1132Sfs*16 Frameshift 23/50 - 1
1-94506895-G-GC c.3391dup p.A1131Gfs*44 Frameshift 23/50 - 1
1-94506901-C-A c.3386G>T p.R1129L Missense 23/50 - 33
1-94506901-C-T c.3386G>A p.R1129H Missense 23/50 - 1
1-94506902-G-A c.3385C>T p.R1129C Missense 23/50 - 9
1-94506904-T-C c.3383A>G p.D1128G Missense 23/50 - 2
1-94506907-C-T c.3380G>A p.G1127E Missense 23/50 - 3
1-94506910-A-G c.3377T>C p.L1126P Missense 23/50 - 2
1-94506911-G-C c.3376C>G p.L1126V Missense 23/50 - 1
1-94506917-C-A c.3370G>T p.D1124Y Missense 23/50 - 1
1-94506923-C-A c.3364G>T p.E1122* Nonsense 23/50 - 1
1-94506923-C-T c.3364G>A p.E1122K Missense 23/50 - 17
1-94506923-TCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAA-T c.3329-23_3364del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 23/50 22/49 1
1-94506935-G-A c.3352C>T p.H1118Y Missense 23/50 - 2
1-94506935-G-C c.3352C>G p.H1118D Missense 23/50 - 1
1-94506937-G-A c.3350C>T p.T1117I Missense 23/50 - 4
1-94506938-T-C c.3349A>G p.T1117A Missense 23/50 - 3
1-94506945-TG-T c.3342del p.M1115Cfs*33 Frameshift 23/50 - 1
1-94506942-CATG-C c.3342_3344del p.I1114del InFrameDeletion 23/50 - 2
1-94506952-G-T c.3335C>A p.T1112N Missense 23/50 - 2
1-94506959-C-T c.3329-1G>A - IntronicSNV - 22/49 1
1-94507682-AGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGG-A c.3328+577_3328+635del - Unclassified - 22/49 1
1-94508316-C-G c.3328+1G>C - IntronicSNV - 22/49 1
1-94508316-C-T c.3328+1G>A - IntronicSNV - 22/49 1
1-94508322-C-A c.3323G>T p.R1108L Missense 22/50 - 3
1-94508322-C-T c.3323G>A p.R1108H Missense 22/50 - 18
1-94508322-GC-G c.3323del p.R1108Pfs*40 Frameshift 22/50 - 1
1-94508323-G-A c.3322C>T p.R1108C Missense 22/50 - 55
1-94508325-T-TA c.3319dup p.Y1107Lfs*68 Frameshift 22/50 - 1
1-94508334-A-G c.3311T>C p.L1104P Missense 22/50 - 1
1-94508340-T-A c.3305A>T p.D1102V Missense 22/50 - 2
1-94508341-C-A c.3304G>T p.D1102Y Missense 22/50 - 3
1-94508346-A-G c.3299T>C p.I1100T Missense 22/50 - 1
1-94508346-A-T c.3299T>A p.I1100N Missense 22/50 - 2
1-94508349-G-C c.3296C>G p.S1099* Nonsense 22/50 - 1
1-94508350-A-G c.3295T>C p.S1099P Missense 22/50 - 4
1-94508353-G-A c.3292C>T p.R1098C Missense 22/50 - 10
1-94508354-TCT-ACA c.3289_3291delinsTGT p.R1097C Missense 22/50 - 1
1-94508356-T-A c.3289A>T p.R1097* Nonsense 22/50 - 4
1-94508356-T-C c.3289A>G p.R1097G Missense 22/50 - 2
1-94508357-C-A c.3288G>T p.S1096= Synonymous 22/50 - 1
1-94508357-C-G c.3288G>C p.S1096= Synonymous 22/50 - 1
1-94508357-C-T c.3288G>A p.S1096= Synonymous 22/50 - 1
1-94508358-G-A c.3287C>T p.S1096L Missense 22/50 - 7
1-94508364-G-C c.3281C>G p.P1094R Missense 22/50 - 2
1-94508366-G-T c.3279C>A p.D1093E Missense 22/50 - 3
1-94508367-T-A c.3278A>T p.D1093V Missense 22/50 - 1
1-94508367-T-C c.3278A>G p.D1093G Missense 22/50 - 1
1-94508368-C-T c.3277G>A p.D1093N Missense 22/50 - 1
1-94508371-C-A c.3274G>T p.V1092L Missense 22/50 - 1
1-94508373-C-T c.3272G>A p.G1091E Missense 22/50 - 2
1-94508379-G-A c.3266C>T p.T1089I Missense 22/50 - 1
1-94508381-G-A c.3264C>T p.P1088= Synonymous 22/50 - 1
1-94508381-G-C c.3264C>G p.P1088= Synonymous 22/50 - 1
1-94508381-G-T c.3264C>A p.P1088= Synonymous 22/50 - 1
1-94508383-G-A c.3262C>T p.P1088S Missense 22/50 - 1
1-94508383-G-T c.3262C>A p.P1088T Missense 22/50 - 1
1-94508384-T-A c.3261A>T p.E1087D Missense 22/50 - 1
1-94508384-T-G c.3261A>C p.E1087D Missense 22/50 - 10
1-94508385-T-C c.3260A>G p.E1087G Missense 22/50 - 1
1-94508386-C-A c.3259G>T p.E1087* Nonsense 22/50 - 2
1-94508386-C-G c.3259G>C p.E1087Q Missense 22/50 - 2
1-94508386-C-T c.3259G>A p.E1087K Missense 22/50 - 28
1-94508394-A-G c.3251T>C p.I1084T Missense 22/50 - 1
1-94508408-A-G c.3237T>C p.D1079= Synonymous 22/50 - 1
1-94508412-C-T c.3233G>A p.G1078E Missense 22/50 - 2
1-94508421-G-A c.3224C>T p.A1075V Missense 22/50 - 1
1-94508425-T-TG c.3219dup p.I1074Hfs*101 Frameshift 22/50 - 1
1-94508432-CG-AC c.3212_3213delinsGT p.S1071C Missense 22/50 - 2
1-94508433-G-A c.3212C>T p.S1071L Missense 22/50 - 3
1-94508433-GA-AC c.3211_3212delinsGT p.S1071V Missense 22/50 - 1
1-94508433-G-GGC c.3211_3212insGC p.S1071Cfs*14 Frameshift 22/50 - 1
1-94508433-G-GTT c.3211_3212insAA p.S1071* Nonsense 22/50 - 1
1-94508433-G-T c.3212C>A p.S1071* Nonsense 22/50 - 1
1-94508434-A-AAC c.3210_3211insGT p.S1071Vfs*14 Frameshift 22/50 - 2
1-94508434-A-G c.3211T>C p.S1071P Missense 22/50 - 1
1-94508433-G-GAC c.3210_3211dup p.S1071Cfs*14 Frameshift 22/50 - 1
1-94508436-A-AAC c.3208_3209insGT p.L1070Rfs*15 Frameshift 22/50 - 1
1-94508440-T-C c.3205A>G p.K1069E Missense 22/50 - 1
1-94508448-A-C c.3197T>G p.M1066R Missense 22/50 - 2
1-94508892-C-G c.3190G>C p.G1064R Missense 21/50 - 1
1-94508895-A-G c.3187T>C p.S1063P Missense 21/50 - 1
1-94508903-T-G c.3179A>C p.Q1060P Missense 21/50 - 1
1-94508910-C-A c.3172G>T p.E1058* Nonsense 21/50 - 1
1-94508915-T-A c.3167A>T p.N1056I Missense 21/50 - 1
1-94508918-C-T c.3164G>A p.R1055Q Missense 21/50 - 1
1-94508919-G-A c.3163C>T p.R1055W Missense 21/50 - 1
1-94508929-G-T c.3153C>A p.L1051= Synonymous 21/50 - 1
1-94508934-C-T c.3148G>A p.G1050S Missense 21/50 - 2
1-94508940-C-CA c.3141_3142insT p.D1048* Nonsense 21/50 - 1
1-94508968-G-T c.3114C>A p.A1038= Synonymous 21/50 - 1
1-94508969-G-A c.3113C>T p.A1038V Missense 21/50 - 106
1-94508973-C-A c.3109G>T p.E1037* Nonsense 21/50 - 1
1-94508976-C-T c.3106G>A p.E1036K Missense 21/50 - 5
1-94508983-CT-C c.3098del p.K1033Sfs*51 Frameshift 21/50 - 1
1-94508993-A-T c.3089T>A p.L1030Q Missense 21/50 - 1
1-94509001-A-C c.3081T>G p.Y1027* Nonsense 21/50 - 3
1-94509017-T-C c.3065A>G p.E1022G Missense 21/50 - 2
1-94509018-C-T c.3064G>A p.E1022K Missense 21/50 - 6
1-94509023-A-AC c.3058dup p.V1020Gfs*3 Frameshift 21/50 - 1
1-94509026-G-A c.3056C>T p.T1019M Missense 21/50 - 25
1-94509027-T-C c.3055A>G p.T1019A Missense 21/50 - 2
1-94509799-G-A c.3050+370C>T - IntronicSNV - 20/49 5
1-94510164-C-T c.3050+5G>A - IntronicSNV - 20/49 6
1-94510168-C-G c.3050+1G>C - IntronicSNV - 20/49 1
1-94510168-C-T c.3050+1G>A - IntronicSNV - 20/49 1
1-94510169-TG-GC c.3049_3050delinsGC p.H1017A Missense 20/50 - 1
1-94510176-A-G c.3043T>C p.F1015L Missense 20/50 - 2
1-94510176-A-T c.3043T>A p.F1015I Missense 20/50 - 1
1-94510178-A-C c.3041T>G p.L1014R Missense 20/50 - 2
1-94510192-T-A c.3027A>T p.P1009= Synonymous 20/50 - 1
1-94510192-T-C c.3027A>G p.P1009= Synonymous 20/50 - 1
1-94510192-T-G c.3027A>C p.P1009= Synonymous 20/50 - 1
1-94510202-C-A c.3017G>T p.G1006V Missense 20/50 - 1
1-94510202-C-T c.3017G>A p.G1006D Missense 20/50 - 1
1-94510212-G-A c.3007C>T p.Q1003* Nonsense 20/50 - 8
1-94510215-G-A c.3004C>T p.R1002W Missense 20/50 - 3
1-94510239-T-C c.2980A>G p.I994V Missense 20/50 - 2
1-94510247-C-A c.2972G>T p.G991V Missense 20/50 - 2
1-94510248-C-A c.2971G>T p.G991* Nonsense 20/50 - 1
1-94510248-C-G c.2971G>A p.G991R Missense 20/50 - 18
1-94510248-C-T c.2971G>A p.G991R Missense 20/50 - 4
1-94510251-C-CA c.2967dup p.G990Wfs*6 Frameshift 20/50 - 1
1-94510253-A-G c.2966T>C p.V989A Missense 20/50 - 23
1-94510255-G-A c.2964C>T p.L988= Synonymous 20/50 - 3
1-94510266-C-T c.2953G>A p.G985R Missense 20/50 - 1
1-94510272-T-A c.2947A>T p.T983S Missense 20/50 - 1
1-94510272-T-C c.2947A>G p.T983A Missense 20/50 - 8
1-94510277-G-A c.2942C>T p.P981L Missense 20/50 - 1
1-94510286-C-T c.2933G>A p.G978D Missense 20/50 - 2
1-94510287-C-T c.2932G>A p.G978S Missense 20/50 - 3
1-94510288-C-T c.2931G>A p.T977= Synonymous 20/50 - 1
1-94510290-T-G c.2929A>C p.T977P Missense 20/50 - 2
1-94510294-G-C c.2925C>G p.I975M Missense 20/50 - 3
1-94510299-A-ATTTG c.2919_2920insCAAA p.S974Qfs*23 SpliceAcceptorInsertion 20/50 - 1
1-94510300-C-A c.2919G>T p.L973F Missense 20/50 - 1
1-94510299-AC-A c.2919del - Frameshift - 19/49 1
1-94510673-G-A c.2919-373C>T - IntronicSNV - 19/49 3
1-94510673-G-T c.2919-373C>A - IntronicSNV - 19/49 3
1-94511533-G-A c.2918+942C>T - IntronicSNV - 19/49 4
1-94512470-C-T c.2918+5G>A - IntronicSNV - 19/49 2
1-94512478-G-A c.2915C>T p.T972I Missense 19/50 - 1
1-94512478-G-T c.2915C>A p.T972N Missense 19/50 - 11
1-94512481-G-T c.2912C>A p.T971N Missense 19/50 - 4
1-94512482-T-C c.2911A>G p.T971A Missense 19/50 - 1
1-94512484-G-A c.2909C>T p.T970I Missense 19/50 - 1
1-94512485-T-G c.2908A>C p.T970P Missense 19/50 - 1
1-94512486-TT-CA c.2906_2907delinsTG p.K969M Missense 19/50 - 6
1-94512487-T-C c.2906A>G p.K969R Missense 19/50 - 1
1-94512493-G-A c.2900C>T p.A967V Missense 19/50 - 1
1-94512493-G-C c.2900C>G p.A967G Missense 19/50 - 1
1-94512499-T-C c.2894A>G p.N965S Missense 19/50 - 69
1-94512500-T-A c.2893A>T p.N965Y Missense 19/50 - 2
1-94512500-T-C c.2893A>G p.N965D Missense 19/50 - 1
1-94512505-C-A c.2888G>T p.G963V Missense 19/50 - 2
1-94512504-GC-G c.2888del p.G963Afs*14 Frameshift 19/50 - 4
1-94512514-TG-T c.2879del p.A960Dfs*17 Frameshift 19/50 - 1
1-94512515-C-T c.2878G>A p.A960T Missense 19/50 - 2
1-94512517-G-A c.2876C>T p.T959I Missense 19/50 - 3
1-94512517-GGTGA-G c.2873_2876del p.I958Tfs*18 Frameshift 19/50 - 1
1-94512518-T-C c.2875A>G p.T959A Missense 19/50 - 3
1-94512526-T-A c.2867A>T p.N956I Missense 19/50 - 1
1-94512532-T-G c.2861A>C p.Y954S Missense 19/50 - 3
1-94512533-A-C c.2860T>G p.Y954D Missense 19/50 - 1
1-94512541-A-G c.2852T>C p.I951T Missense 19/50 - 3
1-94512547-A-C c.2846T>G p.L949R Missense 19/50 - 1
1-94512551-G-A c.2842C>T p.R948C Missense 19/50 - 1
1-94512553-T-C c.2840A>G p.D947G Missense 19/50 - 1
1-94512561-T-C c.2832A>G p.P944= Synonymous 19/50 - 1
1-94512565-C-A c.2828G>T p.R943L Missense 19/50 - 1
1-94512565-C-T c.2828G>A p.R943Q Missense 19/50 - 19
1-94512564-C-A c.2829G>T p.R943= Synonymous 19/50 - 1
1-94512564-C-G c.2829G>C p.R943= Synonymous 19/50 - 1
1-94512564-C-T c.2829G>A p.R943= Synonymous 19/50 - 1
1-94512566-G-A c.2827C>T p.R943W Missense 19/50 - 4
1-94512566-G-C c.2827C>G p.R943G Missense 19/50 - 2
1-94512566-G-T c.2827C>A p.R943= Synonymous 19/50 - 1
1-94512571-CA-GT c.2821_2822delinsAC p.C941T Missense 19/50 - 1
1-94512574-G-C c.2819C>G p.P940R Missense 19/50 - 2
1-94512580-A-G c.2813T>C p.F938S Missense 19/50 - 1
1-94512585-C-CT c.2807dup p.I937Dfs*3 Frameshift 19/50 - 1
1-94512589-A-G c.2804T>C p.V935A Missense 19/50 - 5
1-94512602-C-T c.2791G>A p.V931M Missense 19/50 - 15
1-94512603-G-A c.2790C>T p.C930= Synonymous 19/50 - 1
1-94512613-G-A c.2780C>T p.P927L Missense 19/50 - 1
1-94512619-C-T c.2774G>A p.W925* Nonsense 19/50 - 2
1-94512623-CTGGATGCTCACGT-C c.2757_2769del p.R920Gfs*8 Frameshift 19/50 - 1
1-94512624-TG-T c.2768del p.P923Qfs*9 Frameshift 19/50 - 1
1-94512637-T-C c.2756A>G p.E919G Missense 19/50 - 1
1-94514424-C-T c.2743G>A p.D915N Missense 18/50 - 3
1-94514425-CGTG-C c.2740_2742del p.H914del InFrameDeletion 18/50 - 1
1-94514426-TG-GC c.2740_2741delinsGC p.H914A Missense 18/50 - 1
1-94514447-G-A c.2720C>T p.P907L Missense 18/50 - 1
1-94514453-TC-T c.2713del p.E905Rfs*27 Frameshift 18/50 - 1
1-94514465-G-C c.2702C>G p.T901R Missense 18/50 - 1
1-94514466-T-C c.2701A>G p.T901A Missense 18/50 - 5
1-94514475-C-A c.2692G>T p.E898* Nonsense 18/50 - 2
1-94514477-G-A c.2690C>T p.T897I Missense 18/50 - 4
1-94514481-T-C c.2686A>G p.K896E Missense 18/50 - 1
1-94517132-G-A c.2653+57C>T - IntronicSNV - 17/49 1
1-94517202-C-A c.2640G>T p.W880C Missense 17/50 - 1
1-94517202-C-G c.2640G>C p.W880C Missense 17/50 - 3
1-94517209-G-A c.2633C>T p.S878L Missense 17/50 - 1
1-94517209-G-T c.2633C>A p.S878* Nonsense 17/50 - 2
1-94517216-G-A c.2626C>T p.Q876* Nonsense 17/50 - 3
1-94517218-A-G c.2624T>C p.L875P Missense 17/50 - 1
1-94517223-A-C c.2619T>G p.F873L Missense 17/50 - 1
1-94517223-A-T c.2619T>A p.F873L Missense 17/50 - 1
1-94517225-A-G c.2617T>C p.F873L Missense 17/50 - 2
1-94517226-AG-A c.2616del p.L874Ffs*27 Frameshift 17/50 - 1
1-94517226-G-C c.2616C>G p.Y872* Nonsense 17/50 - 2
1-94517229-C-T c.2613G>A p.W871* Nonsense 17/50 - 1
1-94517228-A-AC c.2613dup p.Y872Vfs*13 Frameshift 17/50 - 1
1-94517234-G-A c.2608C>T p.P870S Missense 17/50 - 1
1-94517240-G-C c.2602C>G p.P868A Missense 17/50 - 1
1-94517248-TA-AG c.2593_2594delinsCT p.Y865L Missense 17/50 - 1
1-94517248-T-TA c.2593dup p.Y865Lfs*20 Frameshift 17/50 - 1
1-94517254-C-G c.2588G>C p.G863A Missense 17/50 - 111
1-94517254-C-T c.2588G>A p.G863E Missense 17/50 - 2
1-94520665-A-G c.2587+2T>C - IntronicSNV - 16/49 1
1-94520678-T-C c.2576A>G p.Q859R Missense 16/50 - 1
1-94520682-C-T c.2572G>A p.D858N Missense 16/50 - 1
1-94520682-C-CA c.2571dup p.D858* Nonsense 16/50 - 1
1-94520684-A-G c.2570T>C p.L857P Missense 16/50 - 1
1-94520681-TCAAGGTAC-T c.2565_2572del p.W855* Frameshift 16/50 - 2
1-94520686-G-T c.2568C>A p.Y856* Nonsense 16/50 - 3
1-94520689-C-T c.2565G>A p.W855* Nonsense 16/50 - 1
1-94520690-C-T c.2564G>A p.W855* Nonsense 16/50 - 10
1-94520694-C-T c.2560G>A p.A854T Missense 16/50 - 3
1-94520697-G-A c.2557C>T p.L853F Missense 16/50 - 1
1-94520702-C-T c.2552G>A p.G851D Missense 16/50 - 7
1-94520704-ATA-CTT c.2548_2550delinsAAG p.Y850K Missense 16/50 - 1
1-94520705-T-C c.2549A>G p.Y850C Missense 16/50 - 6
1-94520708-A-G c.2546T>C p.V849A Missense 16/50 - 6
1-94520711-G-T c.2543C>A p.A848D Missense 16/50 - 2
1-94520714-G-A c.2540C>T p.A847V Missense 16/50 - 1
1-94520717-T-A c.2537A>T p.D846V Missense 16/50 - 1
1-94520718-C-G c.2536G>C p.D846H Missense 16/50 - 1
1-94520723-A-C c.2531T>G p.L844R Missense 16/50 - 1
1-94520726-CATCATCT-C c.2522_2528del p.Q841Rfs*58 Frameshift 16/50 - 1
1-94520731-C-A c.2523G>T p.Q841H Missense 16/50 - 1
1-94520731-C-G c.2523G>C p.Q841H Missense 16/50 - 1
1-94520732-T-G c.2522A>C p.Q841P Missense 16/50 - 1
1-94520735-A-C c.2519T>G p.M840R Missense 16/50 - 2
1-94520744-A-G c.2510T>C p.L837P Missense 16/50 - 1
1-94520748-A-G c.2506T>C p.F836L Missense 16/50 - 1
1-94520766-C-A c.2488G>T p.E830* Nonsense 16/50 - 1
1-94520767-C-A c.2487G>T p.T829= Synonymous 16/50 - 1
1-94520767-C-G c.2487G>C p.T829= Synonymous 16/50 - 1
1-94520767-C-T c.2487G>A p.T829= Synonymous 16/50 - 1
1-94520768-G-A c.2486C>T p.T829M Missense 16/50 - 2
1-94520777-GTT-G c.2476_2477del p.N826Qfs*20 Frameshift 16/50 - 1
1-94520781-C-T c.2473G>A p.G825R Missense 16/50 - 1
1-94520783-A-G c.2471T>C p.I824T Missense 16/50 - 1
1-94520785-G-T c.2469C>A p.N823K Missense 16/50 - 1
1-94520791-C-T c.2463G>A p.W821* Nonsense 16/50 - 2
1-94520793-A-G c.2461T>C p.W821R Missense 16/50 - 2
1-94520793-A-T c.2461T>A p.W821R Missense 16/50 - 14
1-94520795-T-C c.2459A>G p.Q820R Missense 16/50 - 1
1-94520796-G-A c.2458C>T p.Q820* Nonsense 16/50 - 1
1-94520797-CAG-AAA c.2455_2457delinsTTT p.L819F Missense 16/50 - 1
1-94520801-C-T c.2453G>A p.G818E Missense 16/50 - 6
1-94520811-G-A c.2443C>T p.Q815* Nonsense 16/50 - 1
1-94520817-C-T c.2437G>A p.E813K Missense 16/50 - 1
1-94520830-G-C c.2424C>G p.Y808* Nonsense 16/50 - 10
1-94520830-G-T c.2424C>A p.Y808* Nonsense 16/50 - 1
1-94520837-G-A c.2417C>T p.T806I Missense 16/50 - 1
1-94520840-C-T c.2414G>A p.G805D Missense 16/50 - 1
1-94520845-TC-T c.2408del p.G803Dfs*40 Frameshift 16/50 - 2
1-94520852-G-C c.2402C>G p.A801G Missense 16/50 - 1
1-94520853-C-T c.2401G>A p.A801T Missense 16/50 - 5
1-94520853-CCACCGGAGACAGTAAG-C c.2385_2400del p.S795Rfs*43 Frameshift 16/50 - 1
1-94520857-C-T c.2397G>A p.P799= Synonymous 16/50 - 1
1-94520864-A-G c.2390T>C p.L797P Missense 16/50 - 1
1-94520869-G-A c.2385C>T p.S795= Synonymous 16/50 - 1
1-94520869-G-C c.2385C>G p.S795R Missense 16/50 - 3
1-94520869-G-T c.2385C>A p.S795R Missense 16/50 - 1
1-94520871-T-G c.2383A>C p.S795R Missense 16/50 - 1
1-94521978-C-T c.2382+179G>A - IntronicSNV - 15/49 1
1-94522152-C-G c.2382+5G>C - IntronicSNV - 15/49 2
1-94522153-T-C c.2382+4A>G - IntronicSNV - 15/49 1
1-94522156-C-T c.2382+1G>A - IntronicSNV - 15/49 5
1-94522186-G-A c.2353C>T p.R785C Missense 15/50 - 2
1-94522193-C-T c.2346G>A p.W782* Nonsense 15/50 - 1
1-94522194-C-T c.2345G>A p.W782* Nonsense 15/50 - 8
1-94522221-T-A c.2318A>T p.Y773F Missense 15/50 - 1
1-94522223-G-A c.2316C>T p.L772= Synonymous 15/50 - 1
1-94522239-A-T c.2300T>A p.V767D Missense 15/50 - 18
1-94522240-AC-A c.2299del p.V767Sfs*20 Frameshift 15/50 - 1
1-94522242-C-A c.2297G>T p.G766V Missense 15/50 - 1
1-94522244-A-C c.2295T>G p.S765R Missense 15/50 - 2
1-94522244-A-T c.2295T>A p.S765R Missense 15/50 - 2
1-94522246-T-G c.2293A>C p.S765R Missense 15/50 - 2
1-94522245-C-T c.2294G>A p.S765N Missense 15/50 - 1
1-94522248-C-T c.2291G>A p.C764Y Missense 15/50 - 4
1-94522254-G-T c.2285C>A p.A762E Missense 15/50 - 4
1-94522278-A-G c.2261T>C p.F754S Missense 15/50 - 3
1-94522290-A-G c.2249T>C p.L750P Missense 15/50 - 1
1-94522296-C-T c.2243G>A p.C748Y Missense 15/50 - 1
1-94522300-AG-A c.2239del p.L747Cfs*40 Frameshift 15/50 - 1
1-94522336-G-A c.2203C>T p.L735= Synonymous 15/50 - 1
1-94522354-C-T c.2185G>A p.D729N Missense 15/50 - 1
1-94522355-G-T c.2184C>A p.S728R Missense 15/50 - 1
1-94523113-G-A c.2161-735C>T - IntronicSNV - 14/49 1
1-94525509-T-C c.2160+584A>G - IntronicSNV - 14/49 6
1-94525631-T-G c.2160+462A>C - IntronicSNV - 14/49 1
1-94526091-A-C c.2160+2T>G - IntronicSNV - 14/49 1
1-94526092-C-A c.2160+1G>T - IntronicSNV - 14/49 4
1-94526092-C-G c.2160+1G>C - IntronicSNV - 14/49 5
1-94526104-T-G c.2149A>C p.I717L Missense 14/50 - 1
1-94526106-G-A c.2147C>T p.T716M Missense 14/50 - 2
1-94526109-A-C c.2144T>G p.L715R Missense 14/50 - 1
1-94526116-A-T c.2137T>A p.F713I Missense 14/50 - 1
1-94526130-A-G c.2123T>C p.M708T Missense 14/50 - 1
1-94526130-A-T c.2123T>A p.M708K Missense 14/50 - 1
1-94526144-TG-T c.2109del p.D703Efs*8 Frameshift 14/50 - 1
1-94526145-T-G c.2108A>C p.D703A Missense 14/50 - 1
1-94526149-G-A c.2104C>T p.L702= Synonymous 14/50 - 1
1-94526154-C-A c.2099G>T p.W700L Missense 14/50 - 1
1-94526154-C-T c.2099G>A p.W700* Nonsense 14/50 - 7
1-94526161-A-G c.2092T>C p.C698R Missense 14/50 - 1
1-94526165-A-C c.2088T>G p.I696M Missense 14/50 - 1
1-94526184-C-A c.2069G>T p.G690V Missense 14/50 - 3
1-94526184-C-T c.2069G>A p.G690D Missense 14/50 - 1
1-94526183-AC-A c.2069del p.G690Vfs*6 Frameshift 14/50 - 3
1-94526188-G-GA c.2064dup p.Q689Sfs*77 Frameshift 14/50 - 1
1-94526190-T-A c.2063A>T p.N688I Missense 14/50 - 1
1-94526189-A-AT c.2063dup p.N688Kfs*78 Frameshift 14/50 - 2
1-94526196-A-G c.2057T>C p.L686S Missense 14/50 - 3
1-94526197-AG-A c.2055del p.L686* Frameshift 14/50 - 1
1-94526199-G-A c.2054C>T p.T685I Missense 14/50 - 1
1-94526212-G-A c.2041C>T p.R681* Nonsense 14/50 - 29
1-94526212-G-T c.2041C>A p.R681= Synonymous 14/50 - 2
1-94526219-C-A c.2034G>T p.K678N Missense 14/50 - 3
1-94526221-TCTCCAAGACGATG-T c.2019_2031del p.S673Rfs*6 Frameshift 14/50 - 1
1-94526230-C-T c.2023G>A p.V675I Missense 14/50 - 6
1-94526238-TT-GC c.2014_2015delinsGC p.K672A Missense 14/50 - 1
1-94526244-GTCA-G c.2006_2008del p.M669del InFrameDeletion 14/50 - 1
1-94526246-C-G c.2007G>C p.M669I Missense 14/50 - 1
1-94526247-CAT-C c.2005_2006del p.M669Dfs*96 Frameshift 14/50 - 1
1-94526258-G-T c.1995C>A p.Y665* Nonsense 14/50 - 3
1-94526259-TA-GT c.1993_1994delinsAC p.Y665T Missense 14/50 - 1
1-94526264-C-T c.1989G>A p.W663* Nonsense 14/50 - 2
1-94526265-C-T c.1988G>A p.W663* Nonsense 14/50 - 9
1-94526268-G-GC c.1984dup p.A662Gfs*104 Frameshift 14/50 - 1
1-94526271-A-C c.1982T>G p.L661R Missense 14/50 - 1
1-94526276-C-T c.1977G>A p.M659I Missense 14/50 - 1
1-94526287-G-A c.1966C>T p.P656S Missense 14/50 - 1
1-94526289-A-C c.1964T>G p.F655C Missense 14/50 - 7
1-94526294-GCG-CTC c.1957_1959delinsGAG p.R653E Missense 14/50 - 1
1-94526294-GCG-CTT c.1957_1959delinsAAG p.R653K Missense 14/50 - 1
1-94526295-CG-GC c.1957_1958delinsGC p.R653A Missense 14/50 - 1
1-94526295-C-T c.1958G>A p.R653H Missense 14/50 - 6
1-94526296-G-A c.1957C>T p.R653C Missense 14/50 - 28
1-94526312-GA-TT c.1940_1941delinsAA p.F647* Nonsense 14/50 - 3
1-94527698-G-C c.1937+435C>G - IntronicSNV - 13/49 3
1-94528096-G-C c.1937+37C>G - IntronicSNV - 13/49 2
1-94528120-A-C c.1937+13T>G - IntronicSNV - 13/49 2
1-94528128-C-T c.1937+5G>A - IntronicSNV - 13/49 2
1-94528132-C-T c.1937+1G>A - IntronicSNV - 13/49 8
1-94528135-AATC-A c.1933_1935del p.D645del InFrameDeletion 13/50 - 1
1-94528137-C-A c.1933G>T p.D645Y Missense 13/50 - 1
1-94528137-C-T c.1933G>A p.D645N Missense 13/50 - 9
1-94528138-G-A c.1932C>T p.D644= Synonymous 13/50 - 1
1-94528142-A-C c.1928T>G p.V643G Missense 13/50 - 6
1-94528143-C-T c.1927G>A p.V643M Missense 13/50 - 9
1-94528146-A-G c.1924T>C p.F642L Missense 13/50 - 2
1-94528146-A-T c.1924T>A p.F642I Missense 13/50 - 4
1-94528147-G-T c.1923C>A p.C641* Nonsense 13/50 - 1
1-94528147-G-GC c.1922dup p.C641Wfs*125 Frameshift 13/50 - 1
1-94528147-GCAGGGGTAGGGCAT-G c.1909_1922del p.M637Lfs*124 Frameshift 13/50 - 1
1-94528148-C-G c.1922G>C p.C641S Missense 13/50 - 3
1-94528149-A-G c.1921T>C p.C641R Missense 13/50 - 2
1-94528149-A-T c.1921T>A p.C641S Missense 13/50 - 2
1-94528154-T-C c.1916A>G p.Y639C Missense 13/50 - 1
1-94528158-G-A c.1912C>T p.P638S Missense 13/50 - 1
1-94528162-C-A c.1908G>T p.Q636H Missense 13/50 - 4
1-94528164-G-A c.1906C>T p.Q636* Nonsense 13/50 - 10
1-94528164-G-T c.1906C>A p.Q636K Missense 13/50 - 4
1-94528165-C-A c.1905G>T p.Q635H Missense 13/50 - 1
1-94528165-C-G c.1905G>C p.Q635H Missense 13/50 - 1
1-94528167-G-A c.1903C>T p.Q635* Nonsense 13/50 - 5
1-94528167-G-T c.1903C>A p.Q635K Missense 13/50 - 2
1-94528169-A-G c.1901T>C p.L634P Missense 13/50 - 1
1-94528178-C-A c.1892G>T p.G631V Missense 13/50 - 2
1-94528179-CCA-C c.1890_1891del p.G631Nfs*134 Frameshift 13/50 - 1
1-94528190-T-G c.1880A>C p.E627A Missense 13/50 - 2
1-94528191-C-A c.1879G>T p.E627* Nonsense 13/50 - 1
1-94528190-TC-T c.1879del p.E627Rfs*22 Frameshift 13/50 - 1
1-94528192-C-G c.1878G>C p.A626= Synonymous 13/50 - 1
1-94528202-T-C c.1868A>G p.Q623R Missense 13/50 - 4
1-94528205-C-T c.1865G>A p.S622N Missense 13/50 - 1
1-94528209-T-C c.1861A>G p.R621G Missense 13/50 - 1
1-94528217-C-A c.1853G>T p.G618V Missense 13/50 - 1
1-94528217-C-T c.1853G>A p.G618E Missense 13/50 - 1
1-94528218-C-A c.1852G>T p.G618W Missense 13/50 - 1
1-94528218-C-G c.1852G>C p.G618R Missense 13/50 - 2
1-94528218-C-T c.1852G>A p.G618R Missense 13/50 - 2
1-94528224-C-T c.1846G>A p.E616K Missense 13/50 - 2
1-94528226-A-G c.1844T>C p.V615A Missense 13/50 - 5
1-94528226-A-T c.1844T>A p.V615D Missense 13/50 - 1
1-94528238-A-G c.1832T>C p.L611P Missense 13/50 - 2
1-94528247-A-T c.1823T>A p.F608Y Missense 13/50 - 1
1-94528246-A-C c.1824T>G p.F608L Missense 13/50 - 1
1-94528246-A-T c.1824T>A p.F608L Missense 13/50 - 1
1-94528248-A-G c.1822T>C p.F608L Missense 13/50 - 1
1-94528248-A-T c.1822T>A p.F608I Missense 13/50 - 5
1-94528251-C-A c.1819G>T p.G607W Missense 13/50 - 3
1-94528251-C-G c.1819G>C p.G607R Missense 13/50 - 10
1-94528251-C-T c.1819G>A p.G607R Missense 13/50 - 20
1-94528256-C-G c.1814G>C p.W605S Missense 13/50 - 1
1-94528256-C-T c.1814G>A p.W605* Nonsense 13/50 - 1
1-94528263-A-G c.1807T>C p.Y603H Missense 13/50 - 1
1-94528265-CG-GT c.1804_1805delinsAC p.R602T Missense 13/50 - 1
1-94528265-C-T c.1805G>A p.R602Q Missense 13/50 - 10
1-94528266-G-A c.1804C>T p.R602W Missense 13/50 - 46
1-94528270-A-C c.1800T>G p.D600E Missense 13/50 - 3
1-94528270-A-T c.1800T>A p.D600E Missense 13/50 - 3
1-94528272-C-A c.1798G>T p.D600Y Missense 13/50 - 1
1-94528274-TC-T c.1795del p.E599Kfs*50 Frameshift 13/50 - 1
1-94528278-C-T c.1792G>A p.V598M Missense 13/50 - 1
1-94528287-C-T c.1783G>A p.A595T Missense 13/50 - 1
1-94528303-C-T c.1767G>A p.W589* Nonsense 13/50 - 1
1-94528304-C-G c.1766G>C p.W589S Missense 13/50 - 1
1-94528304-C-T c.1766G>A p.W589* Nonsense 13/50 - 2
1-94528311-T-C c.1761-2A>G - IntronicSNV - 12/49 1
1-94528363-C-T c.1761-54G>A - IntronicSNV - 12/49 1
1-94528646-C-A c.1760+22G>T - IntronicSNV - 12/49 1
1-94528666-A-C c.1760+2T>G - IntronicSNV - 12/49 3
1-94528666-A-G c.1760+2T>C - IntronicSNV - 12/49 1
1-94528667-C-A c.1760+1G>T - IntronicSNV - 12/49 1
1-94528668-C-T c.1760G>A p.R587K Missense 12/50 - 5
1-94528668-CT-GC c.1759_1760delinsGC p.R587A Missense 12/50 - 2
1-94528671-T-C c.1757A>G p.D586G Missense 12/50 - 4
1-94528677-A-T c.1751T>A p.I584N Missense 12/50 - 1
1-94528679-C-G c.1749G>C p.K583N Missense 12/50 - 3
1-94528680-T-G c.1748A>C p.K583T Missense 12/50 - 1
1-94528683-T-C c.1745A>G p.N582S Missense 12/50 - 1
1-94528686-G-T c.1742C>A p.T581N Missense 12/50 - 1
1-94528702-C-G c.1726G>C p.D576H Missense 12/50 - 5
1-94528713-C-G c.1715G>C p.R572P Missense 12/50 - 2
1-94528713-C-T c.1715G>A p.R572Q Missense 12/50 - 5
1-94528714-G-A c.1714C>T p.R572* Nonsense 12/50 - 6
1-94528729-C-T c.1699G>A p.V567M Missense 12/50 - 3
1-94528730-G-T c.1698C>A p.H566Q Missense 12/50 - 1
1-94528741-G-A c.1687C>T p.L563= Synonymous 12/50 - 1
1-94528750-T-C c.1678A>G p.T560A Missense 12/50 - 1
1-94528751-C-G c.1677G>C p.W559C Missense 12/50 - 1
1-94528757-A-G c.1671T>C p.Y557= Synonymous 12/50 - 1
1-94528757-A-T c.1671T>A p.Y557* Nonsense 12/50 - 1
1-94528758-T-C c.1670A>G p.Y557C Missense 12/50 - 1
1-94528761-A-C c.1667T>G p.M556R Missense 12/50 - 1
1-94528762-T-C c.1666A>G p.M556V Missense 12/50 - 1
1-94528766-A-G c.1662T>C p.P554= Synonymous 12/50 - 1
1-94528769-GGAA-G c.1657_1659del p.F553del InFrameDeletion 12/50 - 1
1-94528772-T-A c.1656A>T p.V552= Synonymous 12/50 - 1
1-94528772-T-C c.1656A>G p.V552= Synonymous 12/50 - 1
1-94528772-T-G c.1656A>C p.V552= Synonymous 12/50 - 1
1-94528774-C-T c.1654G>A p.V552I Missense 12/50 - 10
1-94528780-C-G c.1648G>C p.G550R Missense 12/50 - 3
1-94528780-C-T c.1648G>A p.G550R Missense 12/50 - 13
1-94528781-G-A c.1647C>T p.A549= Synonymous 12/50 - 1
1-94528782-G-T c.1646C>A p.A549D Missense 12/50 - 1
1-94528784-C-T c.1644G>A p.W548* Nonsense 12/50 - 1
1-94528785-C-T c.1643G>A p.W548* Nonsense 12/50 - 3
1-94528795-T-A c.1633A>T p.N545Y Missense 12/50 - 1
1-94528801-C-G c.1627G>C p.E543Q Missense 12/50 - 2
1-94528803-A-G c.1625T>C p.L542P Missense 12/50 - 1
1-94528806-A-G c.1622T>C p.L541P Missense 12/50 - 104
1-94528805-TAG-T c.1621_1622del p.L541Tfs*14 Frameshift 12/50 - 1
1-94528814-G-A c.1614C>T p.A538= Synonymous 12/50 - 1
1-94528815-G-A c.1613C>T p.A538V Missense 12/50 - 1
1-94528815-G-T c.1613C>A p.A538D Missense 12/50 - 2
1-94528818-C-T c.1610G>A p.R537H Missense 12/50 - 2
1-94528819-G-A c.1609C>T p.R537C Missense 12/50 - 6
1-94528836-T-C c.1592A>G p.E531G Missense 12/50 - 4
1-94528842-T-C c.1586A>G p.N529S Missense 12/50 - 1
1-94528847-G-A c.1581C>T p.S527= Synonymous 12/50 - 1
1-94528848-C-A c.1580G>T p.S527I Missense 12/50 - 1
1-94528851-T-G c.1577A>C p.E526A Missense 12/50 - 1
1-94528854-A-G c.1574T>C p.F525S Missense 12/50 - 1
1-94528857-T-G c.1571A>C p.K524T Missense 12/50 - 1
1-94528861-C-A c.1567G>T p.D523Y Missense 12/50 - 1
1-94528864-G-A c.1564C>T p.L522= Synonymous 12/50 - 1
1-94528866-AC-A c.1561del p.V521Sfs*47 Frameshift 12/50 - 9
1-94528871-G-T c.1557C>A p.C519* Nonsense 12/50 - 1
1-94528872-C-A c.1556G>T p.C519F Missense 12/50 - 1
1-94528873-A-G c.1555T>C p.C519R Missense 12/50 - 2
1-94529895-C-T c.1555-1022G>A - IntronicSNV - 11/49 1
1-94530925-C-A c.1555-2052G>T - IntronicSNV - 11/49 1
1-94533014-T-C c.1555-4141A>G - IntronicSNV - 11/49 1
1-94533014-T-G c.1555-4141A>C - IntronicSNV - 11/49 1
1-94533990-A-T c.1555-5117T>A - IntronicSNV - 11/49 1
1-94538011-G-A c.1554+5235C>T - IntronicSNV - 11/49 3
1-94540675-C-A c.1554+2571G>T - IntronicSNV - 11/49 1
1-94540675-C-T c.1554+2571G>A - IntronicSNV - 11/49 1
1-94543163-A-G c.1554+83T>C - IntronicSNV - 11/49 1
1-94543243-T-A c.1554+3A>T - IntronicSNV - 11/49 1
1-94543245-C-G c.1554+1G>C - IntronicSNV - 11/49 2
1-94543246-C-T c.1554G>A p.E518= Synonymous 11/50 - 1
1-94543247-T-G c.1553A>C p.E518A Missense 11/50 - 1
1-94543248-C-T c.1552G>A p.E518K Missense 11/50 - 2
1-94543262-A-G c.1538T>C p.V513A Missense 11/50 - 1
1-94543268-C-A c.1532G>T p.R511L Missense 11/50 - 1
1-94543268-C-T c.1532G>A p.R511H Missense 11/50 - 4
1-94543269-G-A c.1531C>T p.R511C Missense 11/50 - 7
1-94543271-A-C c.1529T>G p.L510R Missense 11/50 - 1
1-94543271-A-G c.1529T>C p.L510P Missense 11/50 - 1
1-94543272-G-A c.1528C>T p.L510F Missense 11/50 - 1
1-94543274-G-T c.1526C>A p.T509N Missense 11/50 - 1
1-94543278-G-A c.1522C>T p.R508C Missense 11/50 - 8
1-94543278-G-T c.1522C>A p.R508S Missense 11/50 - 1
1-94543281-C-A c.1519G>T p.D507Y Missense 11/50 - 2
1-94543300-C-T c.1500G>A p.R500= Synonymous 11/50 - 2
1-94543303-C-G c.1497G>C p.W499C Missense 11/50 - 1
1-94543304-C-T c.1496G>A p.W499* Nonsense 11/50 - 2
1-94543308-C-G c.1492G>C p.D498H Missense 11/50 - 1
1-94543308-C-T c.1492G>A p.D498N Missense 11/50 - 1
1-94543342-AG-A c.1457del p.P486Lfs*82 Frameshift 11/50 - 1
1-94543367-A-G c.1433T>C p.I478T Missense 11/50 - 1
1-94543389-C-T c.1411G>A p.E471K Missense 11/50 - 8
1-94543391-T-G c.1409A>C p.E470A Missense 11/50 - 1
1-94543395-C-G c.1405G>C p.G469R Missense 11/50 - 1
1-94543411-A-C c.1389T>G p.F463L Missense 11/50 - 1
1-94543416-CTT-C c.1382_1383del p.K461Rfs*5 Frameshift 11/50 - 1
1-94543424-GT-G c.1375del p.T459Qfs*2 Frameshift 11/50 - 2
1-94543427-G-A c.1373C>T p.P458L Missense 11/50 - 1
1-94543428-G-A c.1372C>T p.P458S Missense 11/50 - 1
1-94543428-G-T c.1372C>A p.P458T Missense 11/50 - 1
1-94543436-A-T c.1364T>A p.L455Q Missense 11/50 - 3
1-94543443-C-T c.1357G>A p.D453N Missense 11/50 - 1
1-94544135-A-C c.1356+11T>G - IntronicSNV - 10/49 1
1-94544135-AC-A c.1356+10del - IntronicDeletion - 10/49 1
1-94544145-C-A c.1356+1G>T - IntronicSNV - 10/49 1
1-94544145-C-T c.1356+1G>A - IntronicSNV - 10/49 1
1-94544146-CTCT-C c.1354_1356del p.R452del InFrameDeletion 10/50 - 3
1-94544156-T-C c.1346A>G p.N449S Missense 10/50 - 1
1-94544159-A-T c.1343T>A p.M448K Missense 10/50 - 1
1-94544160-T-C c.1342A>G p.M448V Missense 10/50 - 1
1-94544181-A-G c.1321T>C p.F441L Missense 10/50 - 1
1-94544183-T-C c.1319A>G p.Y440C Missense 10/50 - 1
1-94544184-TA-T c.1318del p.Y440Tfs*9 Frameshift 10/50 - 1
1-94544185-C-T c.1317G>A p.W439* Nonsense 10/50 - 6
1-94544186-C-T c.1316G>A p.W439* Nonsense 10/50 - 2
1-94544192-T-C c.1310A>G p.Q437R Missense 10/50 - 1
1-94544200-CT-C c.1302del p.Q437Rfs*12 Frameshift 10/50 - 3
1-94544201-A-G c.1301T>C p.V434A Missense 10/50 - 1
1-94544203-T-C c.1299A>G p.E433= Synonymous 10/50 - 1
1-94544209-C-G c.1293G>C p.W431C Missense 10/50 - 1
1-94544209-C-T c.1293G>A p.W431* Nonsense 10/50 - 1
1-94544210-C-T c.1292G>A p.W431* Nonsense 10/50 - 1
1-94544211-A-AG c.1290dup p.W431Lfs*13 Frameshift 10/50 - 1
1-94544233-G-A c.1269C>T p.H423= Synonymous 10/50 - 8
1-94544234-T-C c.1268A>G p.H423R Missense 10/50 - 28
1-94544234-T-G c.1268A>C p.H423P Missense 10/50 - 8
1-94544235-G-A c.1267C>T p.H423Y Missense 10/50 - 2
1-94544235-G-T c.1267C>A p.H423N Missense 10/50 - 1
1-94544249-A-G c.1253T>C p.F418S Missense 10/50 - 5
1-94544250-A-G c.1252T>C p.F418L Missense 10/50 - 1
1-94544257-G-T c.1245C>A p.N415K Missense 10/50 - 2
1-94544276-G-A c.1240-14C>T - IntronicSNV - 9/49 3
1-94544844-A-G c.1239+34T>C - IntronicSNV - 9/49 1
1-94544877-C-G c.1239+1G>C - IntronicSNV - 9/49 3
1-94544880-T-A c.1237A>T p.N413Y Missense 9/50 - 1
1-94544888-A-G c.1229T>C p.I410T Missense 9/50 - 1
1-94544893-T-C c.1224A>G p.R408= Synonymous 9/50 - 1
1-94544895-G-A c.1222C>T p.R408* Nonsense 9/50 - 15
1-94544906-G-T c.1211C>A p.S404* Nonsense 9/50 - 1
1-94544909-T-A c.1208A>T p.D403V Missense 9/50 - 1
1-94544913-G-C c.1204C>G p.P402A Missense 9/50 - 3
1-94544916-T-G c.1201A>C p.T401P Missense 9/50 - 1
1-94544922-G-C c.1195C>G p.L399V Missense 9/50 - 1
1-94544929-TCC-ACA c.1186_1188delinsTGT p.G396C Missense 9/50 - 1
1-94544930-C-T c.1187G>A p.G396E Missense 9/50 - 1
1-94544931-C-G c.1186G>C p.G396R Missense 9/50 - 1
1-94544931-C-T c.1186G>A p.G396R Missense 9/50 - 1
1-94544951-G-A c.1166C>T p.A389V Missense 9/50 - 1
1-94544961-C-T c.1156G>A p.A386T Missense 9/50 - 1
1-94544976-G-A c.1141C>T p.P381S Missense 9/50 - 1
1-94544977-A-C c.1140T>G p.N380K Missense 9/50 - 1
1-94544977-A-T c.1140T>A p.N380K Missense 9/50 - 10
1-94545001-AT-A c.1116del p.L373* Frameshift 9/50 - 1
1-94545017-TG-T c.1100del p.T367Nfs*7 Frameshift 9/50 - 1
1-94545023-A-T c.1100-6T>A - IntronicSNV - 8/49 1
1-94545160-C-T c.1100-143G>A - IntronicSNV - 8/49 2
1-94545371-T-G c.1100-354A>C - IntronicSNV - 8/49 1
1-94546033-C-G c.1099+1G>C - IntronicSNV - 8/49 2
1-94546047-A-C c.1086T>G p.Y362* Nonsense 8/50 - 3
1-94546047-A-T c.1086T>A p.Y362* Nonsense 8/50 - 4
1-94546046-CAT-C c.1085_1086del p.Y362* Frameshift 8/50 - 1
1-94546079-C-T c.1054G>A p.D352N Missense 8/50 - 2
1-94546090-A-C c.1043T>G p.F348C Missense 8/50 - 2
1-94546093-GCCTTATAGTTATTGT-G c.1025_1039del p.D342_K346del InFrameDeletion 8/50 - 1
1-94546096-T-G c.1037A>C p.K346T Missense 8/50 - 6
1-94546094-CCTTATAGTTATTGT-C c.1025_1038del p.D342Gfs*6 Frameshift 8/50 - 1
1-94546098-A-C c.1035T>G p.Y345* Nonsense 8/50 - 3
1-94546098-A-T c.1035T>A p.Y345* Nonsense 8/50 - 1
1-94546098-ATA-CTC c.1033_1035delinsGAG p.Y345E Missense 8/50 - 1
1-94546099-TA-GC c.1033_1034delinsGC p.Y345A Missense 8/50 - 2
1-94546099-T-C c.1034A>G p.Y345C Missense 8/50 - 4
1-94546099-T-G c.1034A>C p.Y345S Missense 8/50 - 1
1-94546101-AGTT-A c.1030_1032del p.N344del InFrameDeletion 8/50 - 1
1-94546101-AGTTATTGTC-A c.1024_1032del p.D342_N344del InFrameDeletion 8/50 - 1
1-94546102-T-TA c.1030_1031insT p.N344Ifs*3 Frameshift 8/50 - 1
1-94546103-T-TA c.1029dup p.N344* Nonsense 8/50 - 2
1-94546104-A-G c.1029T>C p.N343= Synonymous 8/50 - 4
1-94546105-ATT-A c.1027_1028del p.N343* Frameshift 8/50 - 1
1-94546111-T-A c.1022A>T p.E341V Missense 8/50 - 1
1-94546111-T-C c.1022A>G p.E341G Missense 8/50 - 2
1-94546114-T-C c.1019A>G p.Y340C Missense 8/50 - 3
1-94546115-A-C c.1018T>G p.Y340D Missense 8/50 - 1
1-94546115-A-G c.1018T>C p.Y340H Missense 8/50 - 1
1-94546117-CA-GC c.1015_1016delinsGC p.W339A Missense 8/50 - 1
1-94546117-CA-TC c.1015_1016delinsGA p.W339E Missense 8/50 - 1
1-94546118-A-C c.1015T>G p.W339G Missense 8/50 - 4
1-94546126-G-C c.1007C>G p.S336C Missense 8/50 - 2
1-94546127-GA-G c.1006del p.S336Pfs*38 Frameshift 8/50 - 2
1-94546141-C-G c.992G>C p.G331A Missense 8/50 - 1
1-94546142-C-A c.991G>T p.G331C Missense 8/50 - 1
1-94546142-C-T c.991G>A p.G331S Missense 8/50 - 1
1-94546150-T-A c.983A>T p.E328V Missense 8/50 - 5
1-94546151-C-A c.982G>T p.E328* Nonsense 8/50 - 6
1-94546155-G-T c.978C>A p.Y326* Nonsense 8/50 - 1
1-94546159-C-G c.974G>C p.G325A Missense 8/50 - 1
1-94546162-C-T c.971G>A p.C324Y Missense 8/50 - 1
1-94546165-AG-A c.967del p.L323Cfs*51 Frameshift 8/50 - 1
1-94546183-C-T c.950G>A p.G317D Missense 8/50 - 1
1-94546182-GC-G c.950del p.G317Afs*57 Frameshift 8/50 - 1
1-94546190-G-A c.943C>T p.L315= Synonymous 8/50 - 1
1-94546207-G-C c.926C>G p.P309R Missense 8/50 - 2
1-94546220-G-A c.913C>T p.Q305* Nonsense 8/50 - 2
1-94546223-T-C c.910A>G p.M304V Missense 8/50 - 1
1-94546229-G-A c.904C>T p.P302S Missense 8/50 - 1
1-94546234-G-T c.899C>A p.T300N Missense 8/50 - 1
1-94546245-CA-C c.887del p.L296Cfs*4 Frameshift 8/50 - 2
1-94546247-AAGT-A c.884_886del p.D295_L296delinsV MultiAAMissense 8/50 - 1
1-94546248-AG-A c.885del p.L296Cfs*4 Frameshift 8/50 - 8
1-94546253-G-A c.880C>T p.Q294* Nonsense 8/50 - 4
1-94546259-T-G c.874A>C p.S292R Missense 8/50 - 1
1-94546261-G-A c.872C>T p.P291L Missense 8/50 - 4
1-94546262-G-C c.871C>G p.P291A Missense 8/50 - 2
1-94546264-C-T c.869G>A p.R290Q Missense 8/50 - 2
1-94546265-G-A c.868C>T p.R290W Missense 8/50 - 11
1-94546266-A-G c.867T>C p.H289= Synonymous 8/50 - 1
1-94546283-A-G c.859-9T>C - IntronicSNV - 7/49 1
1-94546515-T-G c.859-241A>C - IntronicSNV - 7/49 1
1-94546530-T-C c.859-256A>G - IntronicSNV - 7/49 1
1-94546638-G-A c.859-364C>T - IntronicSNV - 7/49 1
1-94547303-T-C c.859-1029A>G - IntronicSNV - 7/49 1
1-94547432-G-A c.859-1158C>T - IntronicSNV - 7/49 1
1-94547883-C-G c.858+1025G>C - IntronicSNV - 7/49 1
1-94547889-A-G c.858+1019T>C - IntronicSNV - 7/49 1
1-94548080-C-G c.858+828G>C - IntronicSNV - 7/49 2
1-94548382-A-C c.858+526T>G - IntronicSNV - 7/49 1
1-94548906-A-T c.858+2T>A - IntronicSNV - 7/49 5
1-94548911-T-A c.855A>T p.Q285H Missense 7/50 - 1
1-94548913-G-A c.853C>T p.Q285* Nonsense 7/50 - 1
1-94548919-T-A c.847A>T p.R283* Nonsense 7/50 - 3
1-94548919-T-C c.847A>G p.R283G Missense 7/50 - 1
1-94548932-CA-C c.834del p.D279Ifs*21 Frameshift 7/50 - 1
1-94548947-C-T c.819G>A p.W273* Nonsense 7/50 - 1
1-94548948-C-T c.818G>A p.W273* Nonsense 7/50 - 1
1-94548949-A-G c.817T>C p.W273R Missense 7/50 - 1
1-94548959-A-G c.807T>C p.N269= Synonymous 7/50 - 1
1-94548981-T-C c.785A>G p.D262G Missense 7/50 - 1
1-94548982-C-T c.784G>A p.D262N Missense 7/50 - 1
1-94548988-G-A c.778C>T p.L260F Missense 7/50 - 1
1-94548996-A-C c.770T>G p.L257R Missense 7/50 - 2
1-94549029-A-G c.769-32T>C - IntronicSNV - 6/49 2
1-94550555-A-G c.769-1558T>C - IntronicSNV - 6/49 2
1-94553438-C-T c.769-4441G>A - IntronicSNV - 6/49 40
1-94553866-A-G c.769-4869T>C - IntronicSNV - 6/49 1
1-94554453-G-A c.769-5456C>T - IntronicSNV - 6/49 1
1-94557021-T-C c.768+7329A>G - IntronicSNV - 6/49 1
1-94558110-G-A c.768+6240C>T - IntronicSNV - 6/49 6
1-94558110-G-T c.768+6240C>A - IntronicSNV - 6/49 6
1-94558425-T-C c.768+5925A>G - IntronicSNV - 6/49 6
1-94559830-CACGCTTCTCCCCAGTGACTCAGGAATTCAGGGAGCCAGAGCCAAGAATGAAACAGGACA-C c.768+4462_768+4520del - Unclassified - 6/49 1
1-94561127-G-A c.768+3223C>T - IntronicSNV - 6/49 1
1-94562084-C-T c.768+2266G>A - IntronicSNV - 6/49 1
1-94562770-C-T c.768+1580G>A - IntronicSNV - 6/49 2
1-94563842-T-C c.768+508A>G - IntronicSNV - 6/49 1
1-94563992-G-A c.768+358C>T - IntronicSNV - 6/49 3
1-94563997-A-G c.768+353T>C - IntronicSNV - 6/49 1
1-94564011-ATCACCTGGCTAGGAAATAGCAGGTCAGGGAGTCAAACCAGGCCTCCTCCTTCCTTTACC-A c.768+281_768+339del - SpliceDonorDeletion - 6/49 1
1-94564321-AATTGGCGAGCAGCCAAACCCCTCCCTTACCACACGGAAGAGCTTGAAGAAGTCCAC-A c.742_768+29del - SpliceDonorDeletion 6/50 6/49 1
1-94564350-C-A c.768G>T p.V256= Synonymous 6/50 - 45
1-94564350-C-G c.768G>C p.V256= Synonymous 6/50 - 2
1-94564350-C-T c.768G>A p.V256= Synonymous 6/50 - 2
1-94564354-CG-GC c.763_764delinsGC p.R255A Missense 6/50 - 1
1-94564355-G-A c.763C>T p.R255C Missense 6/50 - 4
1-94564357-A-G c.761T>C p.F254S Missense 6/50 - 1
1-94564365-GA-G c.752del p.F251Sfs*11 Frameshift 6/50 - 1
1-94564364-TGAA-T c.751_753del p.F251del InFrameDeletion 6/50 - 1
1-94564372-T-C c.746A>G p.D249G Missense 6/50 - 1
1-94564376-C-T c.742G>A p.V248M Missense 6/50 - 1
1-94564378-T-A c.740A>T p.N247I Missense 6/50 - 3
1-94564378-T-C c.740A>G p.N247S Missense 6/50 - 1
1-94564378-T-G c.740A>C p.N247T Missense 6/50 - 1
1-94564383-A-C c.735T>G p.Y245* Nonsense 6/50 - 13
1-94564383-A-T c.735T>A p.Y245* Nonsense 6/50 - 2
1-94564385-A-G c.733T>C p.Y245H Missense 6/50 - 2
1-94564387-A-G c.731T>C p.L244P Missense 6/50 - 2
1-94564390-G-A c.728C>T p.T243I Missense 6/50 - 1
1-94564392-G-A c.726C>T p.D242= Synonymous 6/50 - 1
1-94564394-C-A c.724G>T p.D242Y Missense 6/50 - 1
1-94564402-C-T c.716G>A p.W239* Nonsense 6/50 - 2
1-94564408-A-G c.710T>C p.L237P Missense 6/50 - 1
1-94564410-GGT-TTA c.706_708delinsTAA p.T236* Nonsense 6/50 - 1
1-94564412-GT-G c.706del p.T236Pfs*5 Frameshift 6/50 - 1
1-94564418-G-A c.700C>T p.Q234* Nonsense 6/50 - 5
1-94564418-G-C c.700C>G p.Q234E Missense 6/50 - 1
1-94564424-G-A c.694C>T p.L232F Missense 6/50 - 1
1-94564429-C-G c.689G>C p.C230S Missense 6/50 - 1
1-94564430-A-C c.688T>G p.C230G Missense 6/50 - 1
1-94564430-A-T c.688T>A p.C230S Missense 6/50 - 2
1-94564432-A-G c.686T>C p.L229P Missense 6/50 - 3
1-94564437-A-C c.681T>G p.Y227* Nonsense 6/50 - 1
1-94564439-A-C c.679T>G p.Y227D Missense 6/50 - 1
1-94564439-A-T c.679T>A p.Y227N Missense 6/50 - 1
1-94564440-AGCGCACCGTCTT-A c.667_678del p.K223_R226del InFrameDeletion 6/50 - 1
1-94564441-C-A c.677G>T p.R226L Missense 6/50 - 2
1-94564441-C-T c.677G>A p.R226H Missense 6/50 - 1
1-94564439-AGCGCACCGTCTTT-A c.666_678del p.K223Mfs*14 Frameshift 6/50 - 3
1-94564442-G-A c.676C>T p.R226C Missense 6/50 - 1
1-94564442-G-T c.676C>A p.R226S Missense 6/50 - 1
1-94564443-CAC-GAT c.673_675delinsATC p.V225I Missense 6/50 - 1
1-94564444-A-G c.674T>C p.V225A Missense 6/50 - 1
1-94564445-C-T c.673G>A p.V225M Missense 6/50 - 3
1-94564447-CG-C c.671del p.T224Rfs*17 Frameshift 6/50 - 1
1-94564451-T-G c.667A>C p.K223Q Missense 6/50 - 6
1-94564453-G-A c.665C>T p.A222V Missense 6/50 - 1
1-94564457-C-T c.661G>A p.G221R Missense 6/50 - 1
1-94564460-CG-C c.658del p.R220Afs*21 Frameshift 6/50 - 1
1-94564460-G-A c.658C>T p.R220C Missense 6/50 - 6
1-94564462-C-G c.656G>C p.R219T Missense 6/50 - 4
1-94564463-T-A c.655A>T p.R219* Nonsense 6/50 - 5
1-94564466-G-A c.652C>T p.Q218* Nonsense 6/50 - 1
1-94564477-A-T c.641T>A p.I214N Missense 6/50 - 1
1-94564483-C-T c.635G>A p.R212H Missense 6/50 - 10
1-94564484-G-A c.634C>T p.R212C Missense 6/50 - 51
1-94564484-G-T c.634C>A p.R212S Missense 6/50 - 1
1-94564490-G-C c.628C>G p.L210V Missense 6/50 - 1
1-94564487-CCAGGAGGGCCTCGCTG-C c.615_630del p.C205Wfs*31 Frameshift 6/50 - 1
1-94564495-GCCT-G c.620_622del p.E207del InFrameDeletion 6/50 - 1
1-94564499-C-T c.619G>A p.E207K Missense 6/50 - 1
1-94564500-G-A c.618C>T p.S206= Synonymous 6/50 - 1
1-94564500-G-C c.618C>G p.S206R Missense 6/50 - 1
1-94564504-C-T c.614G>A p.C205Y Missense 6/50 - 1
1-94564505-A-C c.613T>G p.C205G Missense 6/50 - 1
1-94564507-G-T c.611C>A p.A204D Missense 6/50 - 1
1-94564513-TC-T c.604del p.D202Tfs*39 Frameshift 6/50 - 1
1-94564516-T-C c.602A>G p.K201R Missense 6/50 - 1
1-94564519-A-T c.599T>A p.L200Q Missense 6/50 - 1
1-94564520-G-A c.598C>T p.L200= Synonymous 6/50 - 1
1-94564522-G-A c.596C>T p.A199V Missense 6/50 - 1
1-94564524-CAG-AAA c.592_594delinsTTT p.L198F Missense 6/50 - 1
1-94564531-G-A c.587C>T p.P196L Missense 6/50 - 3
1-94564534-A-G c.584T>C p.V195A Missense 6/50 - 1
1-94564543-G-A c.575C>T p.A192V Missense 6/50 - 1
1-94564544-C-T c.574G>A p.A192T Missense 6/50 - 2
1-94564545-G-A c.573C>T p.F191= Synonymous 6/50 - 1
1-94564548-C-A c.571-1G>T - IntronicSNV - 5/49 1
1-94564549-T-A c.571-2A>T - IntronicSNV - 5/49 1
1-94564549-T-C c.571-2A>G - IntronicSNV - 5/49 1
1-94565430-C-G c.571-883G>C - IntronicSNV - 5/49 1
1-94565430-C-T c.571-883G>A - IntronicSNV - 5/49 1
1-94566311-C-T c.571-1764G>A - IntronicSNV - 5/49 1
1-94566773-T-C c.570+1798A>G - IntronicSNV - 5/49 6
1-94567072-G-T c.570+1499C>A - IntronicSNV - 5/49 1
1-94568029-GC-G c.570+541del - IntronicDeletion - 5/49 1
1-94568035-CCTGAGCATCCCCCTTAAACCTGCCCCTCCGTCCCTCTCTAACCCTCGACTCTACCGGAT-C c.570+478_570+536del - Unclassified - 5/49 1
1-94568551-G-A c.570+20C>T - IntronicSNV - 5/49 1
1-94568562-TCCCCCTAC-T c.570+1_570+8del - SpliceDonorDeletion 5/50 5/49 1
1-94568570-C-T c.570+1G>A - IntronicSNV - 5/49 2
1-94568571-C-G c.570G>C p.Q190H Missense 5/50 - 1
1-94568576-C-A c.565G>T p.E189* Nonsense 5/50 - 2
1-94568577-CT-C c.564del p.E189Sfs*12 Frameshift 5/50 - 2
1-94568581-C-T c.560G>A p.R187H Missense 5/50 - 2
1-94568582-G-A c.559C>T p.R187C Missense 5/50 - 1
1-94568588-G-A c.553C>T p.Q185* Nonsense 5/50 - 1
1-94568595-G-C c.546C>G p.I182M Missense 5/50 - 1
1-94568606-A-C c.535T>G p.Y179D Missense 5/50 - 1
1-94568623-AG-A c.517del p.L173Cfs*9 Frameshift 5/50 - 1
1-94568627-C-T c.514G>A p.G172S Missense 5/50 - 11
1-94568628-G-A c.513C>T p.I171= Synonymous 5/50 - 1
1-94568629-A-C c.512T>G p.I171S Missense 5/50 - 1
1-94568655-GT-G c.486del p.L163* Frameshift 5/50 - 1
1-94568660-C-T c.481G>A p.E161K Missense 5/50 - 1
1-94568663-C-A c.478G>T p.E160* Nonsense 5/50 - 2
1-94568675-T-C c.466A>G p.I156V Missense 5/50 - 9
1-94568684-T-A c.457A>T p.I153L Missense 5/50 - 2
1-94568686-C-T c.455G>A p.R152Q Missense 5/50 - 9
1-94568687-G-A c.454C>T p.R152* Nonsense 5/50 - 13
1-94568689-A-G c.452T>C p.I151T Missense 5/50 - 1
1-94568693-C-T c.448G>A p.G150R Missense 5/50 - 1
1-94570016-G-T c.443-1318C>A - IntronicSNV - 4/49 18
1-94574134-CT-C c.441del p.G148Efs*6 Frameshift 4/50 - 1
1-94574138-A-G c.437T>C p.I146T Missense 4/50 - 2
1-94574147-G-A c.428C>T p.P143L Missense 4/50 - 6
1-94574146-CG-C c.428del p.P143Rfs*11 Frameshift 4/50 - 1
1-94574151-G-A c.424C>T p.H142Y Missense 4/50 - 1
1-94574156-CG-GC c.418_419delinsGC p.R140A Missense 4/50 - 1
1-94574175-G-A c.400C>T p.Q134* Nonsense 4/50 - 3
1-94574187-G-T c.388C>A p.H130N Missense 4/50 - 1
1-94574197-C-T c.378G>A p.W126* Nonsense 4/50 - 1
1-94574204-AC-A c.371del p.R124Lfs*30 Frameshift 4/50 - 1
1-94574204-C-A c.371G>T p.R124L Missense 4/50 - 1
1-94574218-GCT-G c.355_356del p.S119Pfs*41 Frameshift 4/50 - 1
1-94574233-C-A c.342G>T p.M114I Missense 4/50 - 1
1-94574233-C-G c.342G>C p.M114I Missense 4/50 - 1
1-94574233-C-T c.342G>A p.M114I Missense 4/50 - 1
1-94574236-G-A c.339C>T p.L113= Synonymous 4/50 - 1
1-94574236-G-C c.339C>G p.L113= Synonymous 4/50 - 1
1-94574236-G-T c.339C>A p.L113= Synonymous 4/50 - 1
1-94574240-A-G c.335T>C p.L112P Missense 4/50 - 1
1-94574247-G-GA c.327dup p.Q110Sfs*51 Frameshift 4/50 - 1
1-94574252-T-A c.323A>T p.D108V Missense 4/50 - 1
1-94574256-G-A c.319C>T p.R107* Nonsense 4/50 - 8
1-94574257-A-C c.318T>G p.Y106* Nonsense 4/50 - 2
1-94574258-T-A c.317A>T p.Y106F Missense 4/50 - 1
1-94574265-T-A c.310A>T p.R104W Missense 4/50 - 1
1-94575056-C-T c.303-784G>A - IntronicSNV - 3/49 8
1-94575440-A-G c.303-1168T>C - IntronicSNV - 3/49 1
1-94576366-G-A c.302+628C>T - IntronicSNV - 3/49 1
1-94576926-G-A c.302+68C>T - IntronicSNV - 3/49 7
1-94576968-T-A c.302+26A>T - IntronicSNV - 3/49 4
1-94576968-T-C c.302+26A>G - IntronicSNV - 3/49 7
1-94576968-T-G c.302+26A>C - IntronicSNV - 3/49 4
1-94576974-G-A c.302+20C>T - IntronicSNV - 3/49 2
1-94576990-T-C c.302+4A>G - IntronicSNV - 3/49 1
1-94576990-T-G c.302+4A>C - IntronicSNV - 3/49 3
1-94576992-A-C c.302+2T>G - IntronicSNV - 3/49 1
1-94576993-C-T c.302+1G>A - IntronicSNV - 3/49 1
1-94576996-G-A c.300C>T p.S100= Synonymous 3/50 - 1
1-94576996-G-C c.300C>G p.S100= Synonymous 3/50 - 1
1-94576996-G-T c.300C>A p.S100= Synonymous 3/50 - 1
1-94576998-A-G c.298T>C p.S100P Missense 3/50 - 6
1-94577002-G-C c.294C>G p.N98K Missense 3/50 - 1
1-94577003-T-C c.293A>G p.N98S Missense 3/50 - 1
1-94577008-G-C c.288C>G p.N96K Missense 3/50 - 2
1-94577008-G-T c.288C>A p.N96K Missense 3/50 - 5
1-94577010-T-C c.286A>G p.N96D Missense 3/50 - 16
1-94577010-T-G c.286A>C p.N96H Missense 3/50 - 5
1-94577008-GT-G c.287del p.N96Tfs*19 Frameshift 3/50 - 1
1-94577031-C-T c.265G>A p.E89K Missense 3/50 - 1
1-94577032-T-A c.264A>T p.G88= Synonymous 3/50 - 1
1-94577034-C-G c.262G>C p.G88R Missense 3/50 - 1
1-94577034-C-T c.262G>A p.G88R Missense 3/50 - 5
1-94577043-G-A c.253C>T p.P85S Missense 3/50 - 1
1-94577045-C-CG c.250_251insC p.S84Tfs*15 Frameshift 3/50 - 1
1-94577045-C-T c.251G>A p.S84N Missense 3/50 - 1
1-94577045-C-CTTTG c.247_250dup p.S84Tfs*16 Frameshift 3/50 - 1
1-94577046-T-TA c.249_250insT p.S84* Nonsense 3/50 - 1
1-94577063-T-C c.233A>G p.N78S Missense 3/50 - 1
1-94577069-T-G c.227A>C p.N76T Missense 3/50 - 1
1-94577072-C-T c.224G>A p.C75Y Missense 3/50 - 1
1-94577073-A-C c.223T>G p.C75G Missense 3/50 - 7
1-94577073-A-G c.223T>C p.C75R Missense 3/50 - 1
1-94577079-T-A c.217A>T p.I73F Missense 3/50 - 1
1-94577080-C-T c.216G>A p.G72= Synonymous 3/50 - 1
1-94577081-C-T c.215G>A p.G72E Missense 3/50 - 1
1-94577082-C-G c.214G>C p.G72R Missense 3/50 - 1
1-94577082-C-T c.214G>A p.G72R Missense 3/50 - 9
1-94577079-T-TC c.216dup p.I73Dfs*26 Frameshift 3/50 - 2
1-94577090-C-T c.206G>A p.W69* Nonsense 3/50 - 1
1-94577091-A-G c.205T>C p.W69R Missense 3/50 - 1
1-94577093-G-A c.203C>T p.P68L Missense 3/50 - 8
1-94577093-G-C c.203C>G p.P68R Missense 3/50 - 1
1-94577102-C-T c.194G>A p.G65E Missense 3/50 - 5
1-94577105-G-A c.191C>T p.A64V Missense 3/50 - 1
1-94577110-GGG-TTA c.184_186delinsTAA p.P62* Nonsense 3/50 - 1
1-94577111-G-A c.185C>T p.P62L Missense 3/50 - 1
1-94577112-G-A c.184C>T p.P62S Missense 3/50 - 4
1-94577112-G-C c.184C>G p.P62A Missense 3/50 - 1
1-94577113-C-T c.183G>A p.M61I Missense 3/50 - 1
1-94577116-TC-T c.180del p.M61Cfs*17 Frameshift 3/50 - 1
1-94577117-G-A c.179C>T p.A60V Missense 3/50 - 5
1-94577117-G-T c.179C>A p.A60E Missense 3/50 - 1
1-94577118-C-T c.178G>A p.A60T Missense 3/50 - 1
1-94577121-T-C c.175A>G p.K59E Missense 3/50 - 1
1-94577125-G-GTT c.170_171insAA p.N58Tfs*21 Frameshift 3/50 - 1
1-94577126-G-C c.170C>G p.P57R Missense 3/50 - 1
1-94577127-G-A c.169C>T p.P57S Missense 3/50 - 1
1-94577132-T-C c.164A>G p.H55R Missense 3/50 - 3
1-94577133-G-T c.163C>A p.H55N Missense 3/50 - 1
1-94577134-G-T c.162C>A p.C54* Nonsense 3/50 - 1
1-94577135-C-A c.161G>T p.C54F Missense 3/50 - 3
1-94577135-C-T c.161G>A p.C54Y Missense 3/50 - 36
1-94578524-C-G c.160+5G>C - IntronicSNV - 2/49 2
1-94578527-A-G c.160+2T>C - IntronicSNV - 2/49 2
1-94578529-A-ACT c.159_160insAG p.C54Sfs*25 SpliceDonorInsertion 2/50 - 1
1-94578529-A-C c.160T>G p.C54G Missense 2/50 - 2
1-94578530-TTC-ACA c.157_159delinsTGT p.E53C Missense 2/50 - 1
1-94578531-T-A c.158A>T p.E53V Missense 2/50 - 1
1-94578532-C-A c.157G>T p.E53* Nonsense 2/50 - 2
1-94578533-A-C c.156T>G p.H52Q Missense 2/50 - 1
1-94578540-CT-GC c.148_149delinsGC p.S50A Missense 2/50 - 1
1-94578543-TA-GG c.145_146delinsCC p.Y49P Missense 2/50 - 1
1-94578548-T-A c.141A>T p.P47= Synonymous 2/50 - 1
1-94578548-T-C c.141A>G p.P47= Synonymous 2/50 - 3
1-94578548-T-G c.141A>C p.P47= Synonymous 2/50 - 4
1-94578549-G-A c.140C>T p.P47L Missense 2/50 - 1
1-94578549-GG-TA c.139_140delinsTA p.P47* Nonsense 2/50 - 1
1-94578549-G-T c.140C>A p.P47Q Missense 2/50 - 1
1-94578561-C-CTTAG c.127_128insCTAA p.R43Tfs*12 Frameshift 2/50 - 1
1-94578566-C-T c.123G>A p.W41* Nonsense 2/50 - 3
1-94578567-C-T c.122G>A p.W41* Nonsense 2/50 - 4
1-94578568-A-G c.121T>C p.W41R Missense 2/50 - 1
1-94578580-GA-G c.108del p.L37Wfs*3 Frameshift 2/50 - 1
1-94578581-AAAT-A c.105_107del p.L35del InFrameDeletion 2/50 - 2
1-94578582-AATAAAG-A c.101_106del p.S34_L35del InFrameDeletion 2/50 - 8
1-94578594-G-A c.95C>T p.P32L Missense 2/50 - 2
1-94578594-G-T c.95C>A p.P32H Missense 2/50 - 1
1-94578596-C-T c.93G>A p.W31* Nonsense 2/50 - 3
1-94578598-A-G c.91T>C p.W31R Missense 2/50 - 2
1-94578601-C-T c.88G>A p.V30M Missense 2/50 - 1
1-94578618-CG-GC c.70_71delinsGC p.R24A Missense 2/50 - 1
1-94578618-C-T c.71G>A p.R24H Missense 2/50 - 10
1-94578619-G-A c.70C>T p.R24C Missense 2/50 - 4
1-94582293-G-C c.67-3671C>G - IntronicSNV - 1/49 2
1-94585331-T-C c.66+1205A>G - IntronicSNV - 1/49 1
1-94585331-T-G c.66+1205A>C - IntronicSNV - 1/49 1
1-94586328-C-G c.66+208G>C - IntronicSNV - 1/49 2
1-94586328-C-T c.66+208G>A - IntronicSNV - 1/49 2
1-94586536-C-A c.66G>T p.K22N Missense 1/50 - 1
1-94586536-C-T c.66G>A p.K22= Synonymous 1/50 - 2
1-94586541-G-A c.61C>T p.Q21* Nonsense 1/50 - 6
1-94586549-C-G c.53G>C p.R18P Missense 1/50 - 1
1-94586549-C-T c.53G>A p.R18Q Missense 1/50 - 1
1-94586550-G-A c.52C>T p.R18W Missense 1/50 - 15
1-94586550-G-T c.52C>A p.R18= Synonymous 1/50 - 1
1-94586554-GGTCCAG-CT c.42_48delinsAG p.N14Kfs*38 Frameshift 1/50 - 1
1-94586557-C-T c.45G>A p.W15* Nonsense 1/50 - 4
1-94586560-G-T c.42C>A p.N14K Missense 1/50 - 1
1-94586566-C-G c.36G>C p.W12C Missense 1/50 - 1
1-94586566-C-T c.36G>A p.W12* Nonsense 1/50 - 1
1-94586568-A-G c.34T>C p.W12R Missense 1/50 - 1
1-94586570-A-G c.32T>C p.L11P Missense 1/50 - 6
1-94586580-G-A c.22C>T p.Q8* Nonsense 1/50 - 1
1-94586580-G-GT c.21dup p.Q8Tfs*46 Frameshift 1/50 - 1
1-94586597-C-T c.5G>A p.G2D Missense 1/50 - 1
1-94586599-C-T c.3G>A p.M1? Missense 1/50 - 2
1-94586600-A-G c.2T>C p.M1? Missense 1/50 - 2
1-94586601-T-C c.1A>G p.M1? Missense 1/50 - 5