| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 1-182542826-G-A | c.*1701C>T | - | 3-UTRSNV | 7/7 | - | 3 |
| 1-182542851-G-C | c.*1676C>G | - | 3-UTRSNV | 7/7 | - | 6 |
| 1-182543175-G-A | c.*1352C>T | - | 3-UTRSNV | 7/7 | - | 3 |
| 1-182543331-A-G | c.*1196T>C | - | 3-UTRSNV | 7/7 | - | 9 |
| 1-182543666-T-G | c.*861A>C | - | 3-UTRSNV | 7/7 | - | 5 |
| 1-182543877-A-G | c.*650T>C | - | 3-UTRSNV | 7/7 | - | 1 |
| 1-182543937-T-C | c.*590A>G | - | 3-UTRSNV | 7/7 | - | 6 |
| 1-182544528-C-T | c.2225G>A | p.*742= | Synonymous | 7/7 | - | 2 |
| 1-182544530-G-A | c.2223C>T | p.C741= | Synonymous | 7/7 | - | 1 |
| 1-182544531-C-T | c.2222G>A | p.C741Y | Missense | 7/7 | - | 1 |
| 1-182544534-C-T | c.2219G>A | p.G740E | Missense | 7/7 | - | 1 |
| 1-182544535-C-A | c.2218G>T | p.G740W | Missense | 7/7 | - | 1 |
| 1-182544535-C-T | c.2218G>A | p.G740R | Missense | 7/7 | - | 1 |
| 1-182544537-G-C | c.2216C>G | p.P739R | Missense | 7/7 | - | 1 |
| 1-182544541-T-A | c.2212A>T | p.S738C | Missense | 7/7 | - | 1 |
| 1-182544548-C-A | c.2205G>T | p.G735= | Synonymous | 7/7 | - | 2 |
| 1-182544548-C-G | c.2205G>C | p.G735= | Synonymous | 7/7 | - | 1 |
| 1-182544548-C-T | c.2205G>A | p.G735= | Synonymous | 7/7 | - | 2 |
| 1-182544549-C-T | c.2204G>A | p.G735E | Missense | 7/7 | - | 5 |
| 1-182544550-C-A | c.2203G>T | p.G735W | Missense | 7/7 | - | 5 |
| 1-182544552-C-A | c.2201G>T | p.S734I | Missense | 7/7 | - | 2 |
| 1-182544555-G-A | c.2198C>T | p.A733V | Missense | 7/7 | - | 1 |
| 1-182544555-G-C | c.2198C>G | p.A733G | Missense | 7/7 | - | 1 |
| 1-182544561-C-T | c.2192G>A | p.G731D | Missense | 7/7 | - | 1 |
| 1-182544562-C-A | c.2191G>T | p.G731C | Missense | 7/7 | - | 2 |
| 1-182544563-A-C | c.2190T>G | p.A730= | Synonymous | 7/7 | - | 1 |
| 1-182544563-A-G | c.2190T>C | p.A730= | Synonymous | 7/7 | - | 3 |
| 1-182544563-A-T | c.2190T>A | p.A730= | Synonymous | 7/7 | - | 1 |
| 1-182544565-C-A | c.2188G>T | p.A730S | Missense | 7/7 | - | 1 |
| 1-182544565-C-T | c.2188G>A | p.A730T | Missense | 7/7 | - | 1 |
| 1-182544573-C-T | c.2180G>A | p.C727Y | Missense | 7/7 | - | 2 |
| 1-182544577-G-A | c.2176C>T | p.Q726* | Nonsense | 7/7 | - | 2 |
| 1-182544578-A-T | c.2175T>A | p.P725= | Synonymous | 7/7 | - | 1 |
| 1-182544581-C-T | c.2172G>A | p.K724= | Synonymous | 7/7 | - | 7 |
| 1-182544584-G-A | c.2169C>T | p.N723= | Synonymous | 7/7 | - | 1 |
| 1-182544584-G-C | c.2169C>G | p.N723K | Missense | 7/7 | - | 1 |
| 1-182544584-G-T | c.2169C>A | p.N723K | Missense | 7/7 | - | 1 |
| 1-182544585-GTTTGGACTGTGGGTTTGGGGGAA-G | c.2146_2168del | p.F716Qfs*5 | Frameshift | 7/7 | - | 1 |
| 1-182544585-T-C | c.2168A>G | p.N723S | Missense | 7/7 | - | 1 |
| 1-182544586-T-C | c.2167A>G | p.N723D | Missense | 7/7 | - | 1 |
| 1-182544589-G-A | c.2164C>T | p.P722S | Missense | 7/7 | - | 1 |
| 1-182544590-A-G | c.2163T>C | p.S721= | Synonymous | 7/7 | - | 1 |
| 1-182544591-CT-AA | c.2161_2162delinsTT | p.S721F | Missense | 7/7 | - | 1 |
| 1-182544592-T-A | c.2161A>T | p.S721C | Missense | 7/7 | - | 1 |
| 1-182544594-T-C | c.2159A>G | p.H720R | Missense | 7/7 | - | 1 |
| 1-182544597-GT-CA | c.2155_2156delinsTG | p.T719C | Missense | 7/7 | - | 1 |
| 1-182544599-T-A | c.2154A>T | p.Q718H | Missense | 7/7 | - | 1 |
| 1-182544599-T-G | c.2154A>C | p.Q718H | Missense | 7/7 | - | 4 |
| 1-182544601-G-C | c.2152C>G | p.Q718E | Missense | 7/7 | - | 1 |
| 1-182544601-G-T | c.2152C>A | p.Q718K | Missense | 7/7 | - | 1 |
| 1-182544602-G-A | c.2151C>T | p.P717= | Synonymous | 7/7 | - | 1 |
| 1-182544602-G-C | c.2151C>G | p.P717= | Synonymous | 7/7 | - | 1 |
| 1-182544602-G-T | c.2151C>A | p.P717= | Synonymous | 7/7 | - | 1 |
| 1-182544603-G-A | c.2150C>T | p.P717L | Missense | 7/7 | - | 1 |
| 1-182544604-G-A | c.2149C>T | p.P717S | Missense | 7/7 | - | 1 |
| 1-182544600-TG-T | c.2152del | p.Q718Kfs*60 | Frameshift | 7/7 | - | 1 |
| 1-182544605-G-A | c.2148C>T | p.F716= | Synonymous | 7/7 | - | 6 |
| 1-182544606-AA-GC | c.2146_2147delinsGC | p.F716A | Missense | 7/7 | - | 1 |
| 1-182544612-T-C | c.2141A>G | p.K714R | Missense | 7/7 | - | 1 |
| 1-182544618-AT-A | c.2135del | p.Y712Lfs*66 | Frameshift | 7/7 | - | 1 |
| 1-182544618-TA-GC | c.2134_2135delinsGC | p.Y712A | Missense | 7/7 | - | 1 |
| 1-182544633-A-G | c.2120T>C | p.L707P | Missense | 7/7 | - | 1 |
| 1-182544641-G-A | c.2112C>T | p.Y704= | Synonymous | 7/7 | - | 1 |
| 1-182544650-G-C | c.2103C>G | p.I701M | Missense | 7/7 | - | 3 |
| 1-182544654-A-T | c.2099T>A | p.V700E | Missense | 7/7 | - | 1 |
| 1-182544672-T-G | c.2081A>C | p.K694T | Missense | 7/7 | - | 2 |
| 1-182544676-G-C | c.2077C>G | p.Q693E | Missense | 7/7 | - | 1 |
| 1-182544678-A-C | c.2075T>G | p.F692C | Missense | 7/7 | - | 1 |
| 1-182544681-T-C | c.2072A>G | p.Y691C | Missense | 7/7 | - | 4 |
| 1-182544683-C-T | c.2070G>A | p.L690= | Synonymous | 7/7 | - | 3 |
| 1-182544687-G-A | c.2066C>T | p.S689F | Missense | 7/7 | - | 1 |
| 1-182544689-A-C | c.2064T>G | p.P688= | Synonymous | 7/7 | - | 1 |
| 1-182544689-A-G | c.2064T>C | p.P688= | Synonymous | 7/7 | - | 1 |
| 1-182544689-A-T | c.2064T>A | p.P688= | Synonymous | 7/7 | - | 1 |
| 1-182544690-G-A | c.2063C>T | p.P688L | Missense | 7/7 | - | 5 |
| 1-182544690-G-T | c.2063C>A | p.P688H | Missense | 7/7 | - | 3 |
| 1-182544692-G-T | c.2061C>A | p.D687E | Missense | 7/7 | - | 1 |
| 1-182544693-T-C | c.2060A>G | p.D687G | Missense | 7/7 | - | 1 |
| 1-182544694-C-T | c.2059G>A | p.D687N | Missense | 7/7 | - | 5 |
| 1-182544701-T-C | c.2052A>G | p.K684= | Synonymous | 7/7 | - | 1 |
| 1-182544815-T-C | c.2040-102A>G | - | IntronicSNV | - | 6/6 | 10 |
| 1-182545221-C-T | c.2039+170G>A | - | IntronicSNV | - | 6/6 | 3 |
| 1-182545391-T-C | c.2039A>G | p.K680R | Missense | 6/7 | - | 1 |
| 1-182545394-T-G | c.2036A>C | p.K679T | Missense | 6/7 | - | 1 |
| 1-182545402-T-A | c.2028A>T | p.E676D | Missense | 6/7 | - | 1 |
| 1-182545402-T-G | c.2028A>C | p.E676D | Missense | 6/7 | - | 1 |
| 1-182545403-T-C | c.2027A>G | p.E676G | Missense | 6/7 | - | 4 |
| 1-182545408-CA-C | c.2022del | p.D674Efs*8 | Frameshift | 6/7 | - | 1 |
| 1-182545412-A-G | c.2018T>C | p.I673T | Missense | 6/7 | - | 3 |
| 1-182545415-TG-GC | c.2014_2015delinsGC | p.H672A | Missense | 6/7 | - | 1 |
| 1-182545421-C-T | c.2009G>A | p.G670E | Missense | 6/7 | - | 1 |
| 1-182545425-A-C | c.2005T>G | p.L669V | Missense | 6/7 | - | 1 |
| 1-182545429-C-T | c.2001G>A | p.R667= | Synonymous | 6/7 | - | 1 |
| 1-182545430-CG-GC | c.1999_2000delinsGC | p.R667A | Missense | 6/7 | - | 10 |
| 1-182545430-C-T | c.2000G>A | p.R667Q | Missense | 6/7 | - | 1 |
| 1-182545430-CG-C | c.1999del | p.R667Gfs*15 | Frameshift | 6/7 | - | 1 |
| 1-182545434-T-C | c.1996A>G | p.I666V | Missense | 6/7 | - | 1 |
| 1-182545434-T-G | c.1996A>C | p.I666L | Missense | 6/7 | - | 1 |
| 1-182545435-G-A | c.1995C>T | p.F665= | Synonymous | 6/7 | - | 1 |
| 1-182545436-A-C | c.1994T>G | p.F665C | Missense | 6/7 | - | 2 |
| 1-182545452-C-A | c.1978G>T | p.G660C | Missense | 6/7 | - | 2 |
| 1-182545452-C-T | c.1978G>A | p.G660S | Missense | 6/7 | - | 1 |
| 1-182545460-T-C | c.1970A>G | p.N657S | Missense | 6/7 | - | 1 |
| 1-182545466-T-A | c.1964A>T | p.Y655F | Missense | 6/7 | - | 1 |
| 1-182545468-G-C | c.1962C>G | p.F654L | Missense | 6/7 | - | 2 |
| 1-182545472-T-C | c.1958A>G | p.N653S | Missense | 6/7 | - | 1 |
| 1-182545475-C-A | c.1955G>T | p.G652V | Missense | 6/7 | - | 1 |
| 1-182545477-TCT-ATG | c.1951_1953delinsCAT | p.R651H | Missense | 6/7 | - | 1 |
| 1-182545478-C-T | c.1952G>A | p.R651K | Missense | 6/7 | - | 11 |
| 1-182545483-T-C | c.1947A>G | p.E649= | Synonymous | 6/7 | - | 1 |
| 1-182545478-C-CT | c.1951dup | p.R651Kfs*11 | Frameshift | 6/7 | - | 5 |
| 1-182545484-T-C | c.1946A>G | p.E649G | Missense | 6/7 | - | 1 |
| 1-182545489-AA-CC | c.1940_1941delinsGG | p.F647W | Missense | 6/7 | - | 1 |
| 1-182545492-C-A | c.1938G>T | p.K646N | Missense | 6/7 | - | 1 |
| 1-182545492-C-G | c.1938G>C | p.K646N | Missense | 6/7 | - | 1 |
| 1-182545493-T-C | c.1937A>G | p.K646R | Missense | 6/7 | - | 1 |
| 1-182545493-T-G | c.1937A>C | p.K646T | Missense | 6/7 | - | 4 |
| 1-182545496-T-C | c.1934A>G | p.N645S | Missense | 6/7 | - | 1 |
| 1-182545499-A-T | c.1931T>A | p.M644K | Missense | 6/7 | - | 1 |
| 1-182545499-AT-TA | c.1930_1931delinsTA | p.M644* | Nonsense | 6/7 | - | 2 |
| 1-182545502-T-A | c.1928A>T | p.K643I | Missense | 6/7 | - | 4 |
| 1-182545499-A-AT | c.1930dup | p.M644Nfs*3 | Frameshift | 6/7 | - | 6 |
| 1-182545499-AT-A | c.1930del | p.M644* | Frameshift | 6/7 | - | 1 |
| 1-182545506-T-C | c.1924A>G | p.K642E | Missense | 6/7 | - | 1 |
| 1-182545507-C-A | c.1923G>T | p.M641I | Missense | 6/7 | - | 2 |
| 1-182545507-C-G | c.1923G>C | p.M641I | Missense | 6/7 | - | 2 |
| 1-182545507-C-T | c.1923G>A | p.M641I | Missense | 6/7 | - | 3 |
| 1-182545508-A-G | c.1922T>C | p.M641T | Missense | 6/7 | - | 2 |
| 1-182545516-T-A | c.1914A>T | p.E638D | Missense | 6/7 | - | 1 |
| 1-182545516-T-G | c.1914A>C | p.E638D | Missense | 6/7 | - | 1 |
| 1-182545518-C-A | c.1912G>T | p.E638* | Nonsense | 6/7 | - | 3 |
| 1-182545522-A-C | c.1908T>G | p.I636M | Missense | 6/7 | - | 1 |
| 1-182545526-T-C | c.1906-2A>G | - | IntronicSNV | - | 5/6 | 1 |
| 1-182545711-T-C | c.1906-187A>G | - | IntronicSNV | - | 5/6 | 1 |
| 1-182548607-C-A | c.1905+1753G>T | - | IntronicSNV | - | 5/6 | 1 |
| 1-182549019-A-G | c.1905+1341T>C | - | IntronicSNV | - | 5/6 | 14 |
| 1-182549019-A-T | c.1905+1341T>A | - | IntronicSNV | - | 5/6 | 12 |
| 1-182549093-T-C | c.1905+1267A>G | - | IntronicSNV | - | 5/6 | 1 |
| 1-182549336-A-C | c.1905+1024T>G | - | IntronicSNV | - | 5/6 | 1 |
| 1-182549336-A-G | c.1905+1024T>C | - | IntronicSNV | - | 5/6 | 2 |
| 1-182549729-T-C | c.1905+631A>G | - | IntronicSNV | - | 5/6 | 3 |
| 1-182550200-A-G | c.1905+160T>C | - | IntronicSNV | - | 5/6 | 3 |
| 1-182550359-C-A | c.1905+1G>T | - | IntronicSNV | - | 5/6 | 1 |
| 1-182550359-C-T | c.1905+1G>A | - | IntronicSNV | - | 5/6 | 2 |
| 1-182550360-C-T | c.1905G>A | p.K635= | Synonymous | 5/7 | - | 2 |
| 1-182550361-T-C | c.1904A>G | p.K635R | Missense | 5/7 | - | 1 |
| 1-182550364-G-A | c.1901C>T | p.T634I | Missense | 5/7 | - | 1 |
| 1-182550367-G-A | c.1898C>T | p.T633M | Missense | 5/7 | - | 1 |
| 1-182550371-A-G | c.1894T>C | p.W632R | Missense | 5/7 | - | 1 |
| 1-182550372-C-G | c.1893G>C | p.K631N | Missense | 5/7 | - | 1 |
| 1-182550372-C-T | c.1893G>A | p.K631= | Synonymous | 5/7 | - | 1 |
| 1-182550376-T-A | c.1889A>T | p.D630V | Missense | 5/7 | - | 1 |
| 1-182550377-C-G | c.1888G>C | p.D630H | Missense | 5/7 | - | 1 |
| 1-182550381-A-C | c.1884T>G | p.S628R | Missense | 5/7 | - | 2 |
| 1-182550381-A-T | c.1884T>A | p.S628R | Missense | 5/7 | - | 2 |
| 1-182550383-T-G | c.1882A>C | p.S628R | Missense | 5/7 | - | 2 |
| 1-182550384-T-C | c.1881A>G | p.K627= | Synonymous | 5/7 | - | 1 |
| 1-182550385-T-C | c.1880A>G | p.K627R | Missense | 5/7 | - | 3 |
| 1-182550387-G-A | c.1878C>T | p.S626= | Synonymous | 5/7 | - | 1 |
| 1-182550388-G-A | c.1877C>T | p.S626F | Missense | 5/7 | - | 1 |
| 1-182550391-T-C | c.1874A>G | p.H625R | Missense | 5/7 | - | 2 |
| 1-182550395-C-T | c.1870G>A | p.E624K | Missense | 5/7 | - | 1 |
| 1-182550396-A-C | c.1869T>G | p.S623= | Synonymous | 5/7 | - | 1 |
| 1-182550396-A-G | c.1869T>C | p.S623= | Synonymous | 5/7 | - | 2 |
| 1-182550396-A-T | c.1869T>A | p.S623= | Synonymous | 5/7 | - | 1 |
| 1-182550397-G-C | c.1868C>G | p.S623C | Missense | 5/7 | - | 1 |
| 1-182550407-G-A | c.1858C>T | p.P620S | Missense | 5/7 | - | 1 |
| 1-182550408-T-C | c.1857A>G | p.Q619= | Synonymous | 5/7 | - | 1 |
| 1-182550410-G-T | c.1855C>A | p.Q619K | Missense | 5/7 | - | 2 |
| 1-182550411-C-T | c.1854G>A | p.L618= | Synonymous | 5/7 | - | 2 |
| 1-182550416-G-T | c.1849C>A | p.L617I | Missense | 5/7 | - | 1 |
| 1-182550417-T-C | c.1848A>G | p.R616= | Synonymous | 5/7 | - | 1 |
| 1-182550419-T-G | c.1846A>C | p.R616= | Synonymous | 5/7 | - | 1 |
| 1-182550418-C-G | c.1847G>C | p.R616T | Missense | 5/7 | - | 1 |
| 1-182550420-G-A | c.1845C>T | p.L615= | Synonymous | 5/7 | - | 4 |
| 1-182550423-G-A | c.1842C>T | p.I614= | Synonymous | 5/7 | - | 2 |
| 1-182550425-T-C | c.1840A>G | p.I614V | Missense | 5/7 | - | 1 |
| 1-182550426-C-A | c.1839G>T | p.E613D | Missense | 5/7 | - | 4 |
| 1-182550428-C-G | c.1837G>C | p.E613Q | Missense | 5/7 | - | 1 |
| 1-182550433-T-C | c.1832A>G | p.E611G | Missense | 5/7 | - | 1 |
| 1-182550434-C-A | c.1831G>T | p.E611* | Nonsense | 5/7 | - | 1 |
| 1-182550434-C-T | c.1831G>A | p.E611K | Missense | 5/7 | - | 1 |
| 1-182550442-C-T | c.1823G>A | p.R608Q | Missense | 5/7 | - | 7 |
| 1-182550443-G-A | c.1822C>T | p.R608* | Nonsense | 5/7 | - | 1 |
| 1-182550445-G-A | c.1820C>T | p.T607I | Missense | 5/7 | - | 1 |
| 1-182550448-T-C | c.1817A>G | p.K606R | Missense | 5/7 | - | 1 |
| 1-182550450-G-A | c.1815C>T | p.I605= | Synonymous | 5/7 | - | 1 |
| 1-182550450-G-T | c.1815C>A | p.I605= | Synonymous | 5/7 | - | 1 |
| 1-182550451-A-G | c.1814T>C | p.I605T | Missense | 5/7 | - | 1 |
| 1-182550455-C-T | c.1810G>A | p.D604N | Missense | 5/7 | - | 1 |
| 1-182550456-G-A | c.1809C>T | p.S603= | Synonymous | 5/7 | - | 6 |
| 1-182550458-A-T | c.1807T>A | p.S603T | Missense | 5/7 | - | 2 |
| 1-182550459-T-A | c.1806A>T | p.E602D | Missense | 5/7 | - | 1 |
| 1-182550459-T-G | c.1806A>C | p.E602D | Missense | 5/7 | - | 1 |
| 1-182550461-C-G | c.1804G>C | p.E602Q | Missense | 5/7 | - | 1 |
| 1-182550461-C-T | c.1804G>A | p.E602K | Missense | 5/7 | - | 1 |
| 1-182550463-T-C | c.1802A>G | p.N601S | Missense | 5/7 | - | 1 |
| 1-182550464-T-C | c.1801A>G | p.N601D | Missense | 5/7 | - | 1 |
| 1-182550466-C-A | c.1799G>T | p.G600V | Missense | 5/7 | - | 1 |
| 1-182550469-A-C | c.1796T>G | p.V599G | Missense | 5/7 | - | 1 |
| 1-182550471-A-C | c.1794T>G | p.N598K | Missense | 5/7 | - | 1 |
| 1-182550471-A-G | c.1794T>C | p.N598= | Synonymous | 5/7 | - | 1 |
| 1-182550471-A-T | c.1794T>A | p.N598K | Missense | 5/7 | - | 1 |
| 1-182550474-C-G | c.1791G>C | p.R597= | Synonymous | 5/7 | - | 1 |
| 1-182550475-CG-TA | c.1789_1790delinsTA | p.R597* | Nonsense | 5/7 | - | 1 |
| 1-182550475-C-T | c.1790G>A | p.R597Q | Missense | 5/7 | - | 6 |
| 1-182550476-G-A | c.1789C>T | p.R597W | Missense | 5/7 | - | 1 |
| 1-182550478-A-C | c.1787T>G | p.L596R | Missense | 5/7 | - | 1 |
| 1-182550480-C-T | c.1785G>A | p.T595= | Synonymous | 5/7 | - | 1 |
| 1-182550481-G-A | c.1784C>T | p.T595M | Missense | 5/7 | - | 12 |
| 1-182550489-G-A | c.1776C>T | p.R592= | Synonymous | 5/7 | - | 1 |
| 1-182550489-GC-TT | c.1775_1776delinsAA | p.R592Q | Missense | 5/7 | - | 1 |
| 1-182550490-C-A | c.1775G>T | p.R592L | Missense | 5/7 | - | 5 |
| 1-182550490-C-T | c.1775G>A | p.R592H | Missense | 5/7 | - | 6 |
| 1-182550491-G-A | c.1774C>T | p.R592C | Missense | 5/7 | - | 1 |
| 1-182550492-G-A | c.1773C>T | p.S591= | Synonymous | 5/7 | - | 1 |
| 1-182551142-C-A | c.1772+46G>T | - | IntronicSNV | - | 4/6 | 1 |
| 1-182551191-T-A | c.1769A>T | p.E590V | Missense | 4/7 | - | 1 |
| 1-182551192-C-T | c.1768G>A | p.E590K | Missense | 4/7 | - | 2 |
| 1-182551205-G-A | c.1755C>T | p.F585= | Synonymous | 4/7 | - | 1 |
| 1-182551210-G-A | c.1750C>T | p.P584S | Missense | 4/7 | - | 5 |
| 1-182551214-ACC-CCA | c.1744_1746delinsTGG | p.G582W | Missense | 4/7 | - | 1 |
| 1-182551216-C-A | c.1744G>T | p.G582C | Missense | 4/7 | - | 2 |
| 1-182551218-A-G | c.1742T>C | p.L581P | Missense | 4/7 | - | 2 |
| 1-182551220-C-A | c.1740G>T | p.L580= | Synonymous | 4/7 | - | 2 |
| 1-182551220-C-G | c.1740G>C | p.L580= | Synonymous | 4/7 | - | 2 |
| 1-182551220-C-T | c.1740G>A | p.L580= | Synonymous | 4/7 | - | 2 |
| 1-182551222-G-A | c.1738C>T | p.L580= | Synonymous | 4/7 | - | 2 |
| 1-182551225-C-G | c.1735G>C | p.D579H | Missense | 4/7 | - | 1 |
| 1-182551233-C-A | c.1727G>T | p.C576F | Missense | 4/7 | - | 1 |
| 1-182551243-C-A | c.1717G>T | p.V573L | Missense | 4/7 | - | 1 |
| 1-182551243-C-G | c.1717G>C | p.V573L | Missense | 4/7 | - | 1 |
| 1-182551243-C-T | c.1717G>A | p.V573M | Missense | 4/7 | - | 2 |
| 1-182551245-T-G | c.1715A>C | p.H572P | Missense | 4/7 | - | 1 |
| 1-182551246-G-A | c.1714C>T | p.H572Y | Missense | 4/7 | - | 1 |
| 1-182551254-G-A | c.1706C>T | p.P569L | Missense | 4/7 | - | 1 |
| 1-182551255-G-A | c.1705C>T | p.P569S | Missense | 4/7 | - | 2 |
| 1-182551258-G-A | c.1702C>T | p.H568Y | Missense | 4/7 | - | 1 |
| 1-182551259-G-A | c.1701C>T | p.F567= | Synonymous | 4/7 | - | 4 |
| 1-182551261-A-G | c.1699T>C | p.F567L | Missense | 4/7 | - | 2 |
| 1-182551264-G-A | c.1696C>T | p.L566F | Missense | 4/7 | - | 1 |
| 1-182551265-A-G | c.1695T>C | p.R565= | Synonymous | 4/7 | - | 1 |
| 1-182551266-C-T | c.1694G>A | p.R565H | Missense | 4/7 | - | 1 |
| 1-182551267-G-A | c.1693C>T | p.R565C | Missense | 4/7 | - | 6 |
| 1-182551274-G-A | c.1686C>T | p.L562= | Synonymous | 4/7 | - | 1 |
| 1-182551274-G-C | c.1686C>G | p.L562= | Synonymous | 4/7 | - | 1 |
| 1-182551274-G-T | c.1686C>A | p.L562= | Synonymous | 4/7 | - | 2 |
| 1-182551278-T-TGGCCAGCTTCTGAAAGTAGAAGTAGACACC | c.1681_1682insGGTGTCTACTTCTACTTTCAGAAGCTGGCC | p.D561delinsGCLLLLSEAGH | MultiAAMissense | 4/7 | - | 1 |
| 1-182551279-C-T | c.1681G>A | p.D561N | Missense | 4/7 | - | 1 |
| 1-182551281-T-C | c.1679A>G | p.K560R | Missense | 4/7 | - | 1 |
| 1-182551282-T-C | c.1678A>G | p.K560E | Missense | 4/7 | - | 1 |
| 1-182551284-G-A | c.1676C>T | p.T559I | Missense | 4/7 | - | 1 |
| 1-182551291-C-T | c.1669G>A | p.E557K | Missense | 4/7 | - | 1 |
| 1-182551296-G-A | c.1664C>T | p.P555L | Missense | 4/7 | - | 3 |
| 1-182551296-G-T | c.1664C>A | p.P555Q | Missense | 4/7 | - | 1 |
| 1-182551297-G-A | c.1663C>T | p.P555S | Missense | 4/7 | - | 2 |
| 1-182551297-G-T | c.1663C>A | p.P555T | Missense | 4/7 | - | 3 |
| 1-182551304-T-A | c.1656A>T | p.Q552H | Missense | 4/7 | - | 1 |
| 1-182551304-T-G | c.1656A>C | p.Q552H | Missense | 4/7 | - | 1 |
| 1-182551306-G-A | c.1654C>T | p.Q552* | Nonsense | 4/7 | - | 1 |
| 1-182551309-C-T | c.1651G>A | p.V551I | Missense | 4/7 | - | 4 |
| 1-182551312-C-T | c.1648G>A | p.V550M | Missense | 4/7 | - | 1 |
| 1-182551315-C-T | c.1645G>A | p.E549K | Missense | 4/7 | - | 1 |
| 1-182551320-T-A | c.1640A>T | p.N547I | Missense | 4/7 | - | 1 |
| 1-182551321-T-G | c.1639A>C | p.N547H | Missense | 4/7 | - | 2 |
| 1-182551323-C-G | c.1637G>C | p.S546T | Missense | 4/7 | - | 1 |
| 1-182551326-T-C | c.1634A>G | p.Q545R | Missense | 4/7 | - | 1 |
| 1-182551328-A-C | c.1632T>G | p.A544= | Synonymous | 4/7 | - | 1 |
| 1-182551328-A-G | c.1632T>C | p.A544= | Synonymous | 4/7 | - | 1 |
| 1-182551328-A-T | c.1632T>A | p.A544= | Synonymous | 4/7 | - | 1 |
| 1-182551329-G-T | c.1631C>A | p.A544D | Missense | 4/7 | - | 1 |
| 1-182551334-C-A | c.1626G>T | p.L542= | Synonymous | 4/7 | - | 2 |
| 1-182551334-C-G | c.1626G>C | p.L542= | Synonymous | 4/7 | - | 1 |
| 1-182551337-A-C | c.1623T>G | p.D541E | Missense | 4/7 | - | 81 |
| 1-182551337-A-G | c.1623T>C | p.D541= | Synonymous | 4/7 | - | 3 |
| 1-182551337-A-T | c.1623T>A | p.D541E | Missense | 4/7 | - | 11 |
| 1-182551340-C-A | c.1620G>T | p.E540D | Missense | 4/7 | - | 1 |
| 1-182551344-A-G | c.1616T>C | p.F539S | Missense | 4/7 | - | 4 |
| 1-182551347-G-A | c.1613C>T | p.S538L | Missense | 4/7 | - | 1 |
| 1-182551349-G-A | c.1611C>T | p.I537= | Synonymous | 4/7 | - | 1 |
| 1-182551349-G-T | c.1611C>A | p.I537= | Synonymous | 4/7 | - | 1 |
| 1-182551351-T-A | c.1609A>T | p.I537F | Missense | 4/7 | - | 1 |
| 1-182551353-C-G | c.1607G>C | p.S536T | Missense | 4/7 | - | 1 |
| 1-182551358-C-T | c.1602G>A | p.K534= | Synonymous | 4/7 | - | 1 |
| 1-182551359-T-C | c.1601A>G | p.K534R | Missense | 4/7 | - | 1 |
| 1-182551357-CCTT-C | c.1600_1602del | p.K534del | InFrameDeletion | 4/7 | - | 1 |
| 1-182551366-C-G | c.1594G>C | p.V532L | Missense | 4/7 | - | 1 |
| 1-182551366-C-T | c.1594G>A | p.V532I | Missense | 4/7 | - | 2 |
| 1-182551371-T-C | c.1589A>G | p.Y530C | Missense | 4/7 | - | 1 |
| 1-182551375-G-A | c.1585C>T | p.L529F | Missense | 4/7 | - | 1 |
| 1-182551376-G-A | c.1584C>T | p.V528= | Synonymous | 4/7 | - | 1 |
| 1-182551378-C-T | c.1582G>A | p.V528I | Missense | 4/7 | - | 2 |
| 1-182551379-C-A | c.1581G>T | p.L527= | Synonymous | 4/7 | - | 1 |
| 1-182551379-C-G | c.1581G>C | p.L527= | Synonymous | 4/7 | - | 1 |
| 1-182551379-C-T | c.1581G>A | p.L527= | Synonymous | 4/7 | - | 1 |
| 1-182551381-G-A | c.1579C>T | p.L527= | Synonymous | 4/7 | - | 1 |
| 1-182551382-CC-AT | c.1577_1578delinsAT | p.R526H | Missense | 4/7 | - | 1 |
| 1-182551383-C-A | c.1577G>T | p.R526L | Missense | 4/7 | - | 1 |
| 1-182551384-G-A | c.1576C>T | p.R526W | Missense | 4/7 | - | 1 |
| 1-182551385-T-C | c.1575A>G | p.G525= | Synonymous | 4/7 | - | 1 |
| 1-182551386-C-A | c.1574G>T | p.G525V | Missense | 4/7 | - | 1 |
| 1-182551389-A-G | c.1571T>C | p.L524P | Missense | 4/7 | - | 1 |
| 1-182551389-AG-A | c.1570del | p.G525Dfs*8 | Frameshift | 4/7 | - | 1 |
| 1-182553215-C-T | c.1566+1G>A | - | IntronicSNV | - | 3/6 | 2 |
| 1-182553216-C-A | c.1566G>T | p.E522D | Missense | 3/7 | - | 1 |
| 1-182553216-C-G | c.1566G>C | p.E522D | Missense | 3/7 | - | 1 |
| 1-182553218-C-G | c.1564G>C | p.E522Q | Missense | 3/7 | - | 1 |
| 1-182553219-TAG-AAA | c.1561_1563delinsTTT | p.L521F | Missense | 3/7 | - | 1 |
| 1-182553226-C-G | c.1556G>C | p.R519T | Missense | 3/7 | - | 1 |
| 1-182553226-C-T | c.1556G>A | p.R519K | Missense | 3/7 | - | 1 |
| 1-182553226-CT-TG | c.1555_1556delinsCA | p.R519Q | Missense | 3/7 | - | 1 |
| 1-182553233-C-A | c.1549G>T | p.V517F | Missense | 3/7 | - | 1 |
| 1-182553236-C-T | c.1546G>A | p.E516K | Missense | 3/7 | - | 1 |
| 1-182553237-C-A | c.1545G>T | p.Q515H | Missense | 3/7 | - | 1 |
| 1-182553237-C-G | c.1545G>C | p.Q515H | Missense | 3/7 | - | 1 |
| 1-182553238-T-C | c.1544A>G | p.Q515R | Missense | 3/7 | - | 1 |
| 1-182553239-G-A | c.1543C>T | p.Q515* | Nonsense | 3/7 | - | 1 |
| 1-182553239-G-T | c.1543C>A | p.Q515K | Missense | 3/7 | - | 1 |
| 1-182553243-A-C | c.1539T>G | p.D513E | Missense | 3/7 | - | 2 |
| 1-182553243-A-T | c.1539T>A | p.D513E | Missense | 3/7 | - | 2 |
| 1-182553256-T-C | c.1526A>G | p.K509R | Missense | 3/7 | - | 1 |
| 1-182553258-G-A | c.1524C>T | p.I508= | Synonymous | 3/7 | - | 1 |
| 1-182553258-G-T | c.1524C>A | p.I508= | Synonymous | 3/7 | - | 3 |
| 1-182553261-G-C | c.1521C>G | p.S507R | Missense | 3/7 | - | 1 |
| 1-182553262-C-T | c.1520G>A | p.S507N | Missense | 3/7 | - | 1 |
| 1-182553264-C-G | c.1518G>C | p.K506N | Missense | 3/7 | - | 2 |
| 1-182553266-T-C | c.1516A>G | p.K506E | Missense | 3/7 | - | 1 |
| 1-182553281-G-T | c.1501C>A | p.L501M | Missense | 3/7 | - | 1 |
| 1-182553284-G-A | c.1498C>T | p.H500Y | Missense | 3/7 | - | 1 |
| 1-182553290-C-A | c.1492G>T | p.A498S | Missense | 3/7 | - | 1 |
| 1-182553296-T-A | c.1486A>T | p.K496* | Nonsense | 3/7 | - | 1 |
| 1-182553693-C-T | c.1481-392G>A | - | IntronicSNV | - | 2/6 | 4 |
| 1-182554403-T-C | c.1480+59A>G | - | IntronicSNV | - | 2/6 | 1 |
| 1-182554461-C-A | c.1480+1G>T | - | IntronicSNV | - | 2/6 | 1 |
| 1-182554463-T-G | c.1479A>C | p.I493= | Synonymous | 2/7 | - | 1 |
| 1-182554464-A-G | c.1478T>C | p.I493T | Missense | 2/7 | - | 1 |
| 1-182554465-T-C | c.1477A>G | p.I493V | Missense | 2/7 | - | 1 |
| 1-182554466-T-C | c.1476A>G | p.L492= | Synonymous | 2/7 | - | 1 |
| 1-182554473-T-C | c.1469A>G | p.N490S | Missense | 2/7 | - | 2 |
| 1-182554475-T-G | c.1467A>C | p.Q489H | Missense | 2/7 | - | 1 |
| 1-182554479-G-A | c.1463C>T | p.P488L | Missense | 2/7 | - | 1 |
| 1-182554482-T-C | c.1460A>G | p.Q487R | Missense | 2/7 | - | 1 |
| 1-182554486-G-C | c.1456C>G | p.L486V | Missense | 2/7 | - | 1 |
| 1-182554489-C-A | c.1453G>T | p.D485Y | Missense | 2/7 | - | 1 |
| 1-182554489-C-T | c.1453G>A | p.D485N | Missense | 2/7 | - | 1 |
| 1-182554492-G-A | c.1450C>T | p.Q484* | Nonsense | 2/7 | - | 1 |
| 1-182554492-G-C | c.1450C>G | p.Q484E | Missense | 2/7 | - | 1 |
| 1-182554493-G-C | c.1449C>G | p.H483Q | Missense | 2/7 | - | 1 |
| 1-182554493-G-T | c.1449C>A | p.H483Q | Missense | 2/7 | - | 2 |
| 1-182554497-G-A | c.1445C>T | p.T482I | Missense | 2/7 | - | 1 |
| 1-182554498-T-C | c.1444A>G | p.T482A | Missense | 2/7 | - | 2 |
| 1-182554499-G-A | c.1443C>T | p.Y481= | Synonymous | 2/7 | - | 1 |
| 1-182554500-T-C | c.1442A>G | p.Y481C | Missense | 2/7 | - | 2 |
| 1-182554500-T-TTGCAG | c.1441_1442insCTGCA | p.Y481Sfs*14 | Frameshift | 2/7 | - | 1 |
| 1-182554503-C-G | c.1439G>C | p.G480A | Missense | 2/7 | - | 1 |
| 1-182554504-C-T | c.1438G>A | p.G480R | Missense | 2/7 | - | 1 |
| 1-182554506-C-T | c.1436G>A | p.C479Y | Missense | 2/7 | - | 1 |
| 1-182554508-G-A | c.1434C>T | p.S478= | Synonymous | 2/7 | - | 2 |
| 1-182554510-A-G | c.1432T>C | p.S478P | Missense | 2/7 | - | 3 |
| 1-182554522-C-A | c.1420G>T | p.E474* | Nonsense | 2/7 | - | 4 |
| 1-182554522-C-T | c.1420G>A | p.E474K | Missense | 2/7 | - | 1 |
| 1-182554525-G-C | c.1417C>G | p.Q473E | Missense | 2/7 | - | 1 |
| 1-182554529-A-T | c.1413T>A | p.A471= | Synonymous | 2/7 | - | 2 |
| 1-182554535-A-G | c.1407T>C | p.F469= | Synonymous | 2/7 | - | 1 |
| 1-182554538-T-A | c.1404A>T | p.I468= | Synonymous | 2/7 | - | 1 |
| 1-182554539-A-G | c.1403T>C | p.I468T | Missense | 2/7 | - | 1 |
| 1-182554540-T-C | c.1402A>G | p.I468V | Missense | 2/7 | - | 1 |
| 1-182554545-G-A | c.1397C>T | p.S466L | Missense | 2/7 | - | 3 |
| 1-182554553-ATT-TTA | c.1387_1389delinsTAA | p.N463* | Nonsense | 2/7 | - | 1 |
| 1-182554554-T-C | c.1388A>G | p.N463S | Missense | 2/7 | - | 1 |
| 1-182554557-C-T | c.1385G>A | p.R462Q | Missense | 2/7 | - | 171 |
| 1-182554556-T-A | c.1386A>T | p.R462= | Synonymous | 2/7 | - | 2 |
| 1-182554556-T-C | c.1386A>G | p.R462= | Synonymous | 2/7 | - | 2 |
| 1-182554556-T-G | c.1386A>C | p.R462= | Synonymous | 2/7 | - | 2 |
| 1-182554558-G-T | c.1384C>A | p.R462= | Synonymous | 2/7 | - | 2 |
| 1-182554559-G-A | c.1383C>T | p.A461= | Synonymous | 2/7 | - | 1 |
| 1-182554559-G-C | c.1383C>G | p.A461= | Synonymous | 2/7 | - | 1 |
| 1-182554559-G-T | c.1383C>A | p.A461= | Synonymous | 2/7 | - | 1 |
| 1-182554560-G-C | c.1382C>G | p.A461G | Missense | 2/7 | - | 1 |
| 1-182554562-A-T | c.1380T>A | p.F460L | Missense | 2/7 | - | 4 |
| 1-182554563-A-G | c.1379T>C | p.F460S | Missense | 2/7 | - | 2 |
| 1-182554567-C-G | c.1375G>C | p.E459Q | Missense | 2/7 | - | 1 |
| 1-182554567-C-T | c.1375G>A | p.E459K | Missense | 2/7 | - | 1 |
| 1-182554571-T-A | c.1371A>T | p.E457D | Missense | 2/7 | - | 1 |
| 1-182554572-T-C | c.1370A>G | p.E457G | Missense | 2/7 | - | 1 |
| 1-182554576-C-A | c.1366G>T | p.E456* | Nonsense | 2/7 | - | 1 |
| 1-182554576-C-T | c.1366G>A | p.E456K | Missense | 2/7 | - | 2 |
| 1-182554583-CAC-GAT | c.1357_1359delinsATC | p.V453I | Missense | 2/7 | - | 1 |
| 1-182554585-C-T | c.1357G>A | p.V453M | Missense | 2/7 | - | 4 |
| 1-182554594-C-T | c.1348G>A | p.G450R | Missense | 2/7 | - | 2 |
| 1-182554596-C-T | c.1346G>A | p.R449K | Missense | 2/7 | - | 2 |
| 1-182554596-CT-TG | c.1345_1346delinsCA | p.R449Q | Missense | 2/7 | - | 1 |
| 1-182554599-T-G | c.1343A>C | p.H448P | Missense | 2/7 | - | 1 |
| 1-182554604-A-AC | c.1337_1338insG | p.D446Efs*11 | Frameshift | 2/7 | - | 1 |
| 1-182554606-C-CTG | c.1335_1336insCA | p.D446Qfs*48 | Frameshift | 2/7 | - | 1 |
| 1-182554606-C-T | c.1336G>A | p.D446N | Missense | 2/7 | - | 1 |
| 1-182554607-C-A | c.1335G>T | p.L445F | Missense | 2/7 | - | 3 |
| 1-182554607-C-G | c.1335G>C | p.L445F | Missense | 2/7 | - | 3 |
| 1-182554610-AACAC-A | c.1329_1332del | p.C444Wfs*48 | Frameshift | 2/7 | - | 1 |
| 1-182554611-C-A | c.1331G>T | p.C444F | Missense | 2/7 | - | 1 |
| 1-182554614-G-A | c.1328C>T | p.A443V | Missense | 2/7 | - | 1 |
| 1-182554615-C-CGTGT | c.1326_1327insACAC | p.A443Tfs*15 | Frameshift | 2/7 | - | 1 |
| 1-182554616-T-A | c.1326A>T | p.E442D | Missense | 2/7 | - | 1 |
| 1-182554618-TCC-T | c.1323_1324del | p.E442Sfs*14 | Frameshift | 2/7 | - | 1 |
| 1-182554619-C-A | c.1323G>T | p.L441= | Synonymous | 2/7 | - | 2 |
| 1-182554619-C-G | c.1323G>C | p.L441= | Synonymous | 2/7 | - | 2 |
| 1-182554619-C-T | c.1323G>A | p.L441= | Synonymous | 2/7 | - | 2 |
| 1-182554621-G-A | c.1321C>T | p.L441= | Synonymous | 2/7 | - | 2 |
| 1-182554620-A-G | c.1322T>C | p.L441P | Missense | 2/7 | - | 1 |
| 1-182554622-A-C | c.1320T>G | p.T440= | Synonymous | 2/7 | - | 1 |
| 1-182554622-A-G | c.1320T>C | p.T440= | Synonymous | 2/7 | - | 1 |
| 1-182554622-A-T | c.1320T>A | p.T440= | Synonymous | 2/7 | - | 1 |
| 1-182554623-AG-A | c.1319del | p.T440Ifs*53 | Frameshift | 2/7 | - | 1 |
| 1-182554625-C-G | c.1317G>C | p.Q439H | Missense | 2/7 | - | 1 |
| 1-182554630-C-A | c.1312G>T | p.E438* | Nonsense | 2/7 | - | 3 |
| 1-182554632-CA-GT | c.1309_1310delinsAC | p.C437T | Missense | 2/7 | - | 1 |
| 1-182554632-C-T | c.1310G>A | p.C437Y | Missense | 2/7 | - | 1 |
| 1-182554638-G-T | c.1304C>A | p.T435N | Missense | 2/7 | - | 1 |
| 1-182554644-C-A | c.1298G>T | p.C433F | Missense | 2/7 | - | 1 |
| 1-182554653-A-T | c.1289T>A | p.L430* | Nonsense | 2/7 | - | 2 |
| 1-182554654-A-G | c.1288T>C | p.L430= | Synonymous | 2/7 | - | 1 |
| 1-182554655-G-C | c.1287C>G | p.H429Q | Missense | 2/7 | - | 1 |
| 1-182554655-G-T | c.1287C>A | p.H429Q | Missense | 2/7 | - | 1 |
| 1-182554657-G-A | c.1285C>T | p.H429Y | Missense | 2/7 | - | 1 |
| 1-182554659-C-G | c.1283G>C | p.G428A | Missense | 2/7 | - | 1 |
| 1-182554662-C-T | c.1280G>A | p.R427K | Missense | 2/7 | - | 1 |
| 1-182554664-G-C | c.1278C>G | p.H426Q | Missense | 2/7 | - | 1 |
| 1-182554664-G-T | c.1278C>A | p.H426Q | Missense | 2/7 | - | 1 |
| 1-182554665-T-A | c.1277A>T | p.H426L | Missense | 2/7 | - | 1 |
| 1-182554672-C-G | c.1270G>C | p.E424Q | Missense | 2/7 | - | 1 |
| 1-182554674-C-T | c.1268G>A | p.S423N | Missense | 2/7 | - | 1 |
| 1-182554676-C-T | c.1266G>A | p.G422= | Synonymous | 2/7 | - | 2 |
| 1-182554680-T-A | c.1262A>T | p.Y421F | Missense | 2/7 | - | 1 |
| 1-182554681-A-G | c.1261T>C | p.Y421H | Missense | 2/7 | - | 1 |
| 1-182554682-G-A | c.1260C>T | p.F420= | Synonymous | 2/7 | - | 2 |
| 1-182554682-G-T | c.1260C>A | p.F420L | Missense | 2/7 | - | 2 |
| 1-182554682-G-C | c.1260C>G | p.F420L | Missense | 2/7 | - | 1 |
| 1-182554684-A-G | c.1258T>C | p.F420L | Missense | 2/7 | - | 1 |
| 1-182554694-G-C | c.1248C>G | p.H416Q | Missense | 2/7 | - | 1 |
| 1-182554694-G-T | c.1248C>A | p.H416Q | Missense | 2/7 | - | 2 |
| 1-182554695-T-C | c.1247A>G | p.H416R | Missense | 2/7 | - | 1 |
| 1-182554705-C-T | c.1237G>A | p.E413K | Missense | 2/7 | - | 1 |
| 1-182554707-C-T | c.1235G>A | p.R412Q | Missense | 2/7 | - | 5 |
| 1-182554708-G-A | c.1234C>T | p.R412* | Nonsense | 2/7 | - | 1 |
| 1-182554708-G-C | c.1234C>G | p.R412G | Missense | 2/7 | - | 3 |
| 1-182554711-T-C | c.1231A>G | p.S411G | Missense | 2/7 | - | 2 |
| 1-182554713-CT-AG | c.1228_1229inv | p.S410L | Missense | 2/7 | - | 1 |
| 1-182554717-G-A | c.1225C>T | p.Q409* | Nonsense | 2/7 | - | 3 |
| 1-182554717-G-T | c.1225C>A | p.Q409K | Missense | 2/7 | - | 2 |
| 1-182554719-A-T | c.1223T>A | p.L408Q | Missense | 2/7 | - | 1 |
| 1-182554720-G-C | c.1222C>G | p.L408V | Missense | 2/7 | - | 1 |
| 1-182554721-A-T | c.1221T>A | p.C407* | Nonsense | 2/7 | - | 1 |
| 1-182554724-A-C | c.1218T>G | p.S406= | Synonymous | 2/7 | - | 1 |
| 1-182554724-A-G | c.1218T>C | p.S406= | Synonymous | 2/7 | - | 1 |
| 1-182554724-A-T | c.1218T>A | p.S406= | Synonymous | 2/7 | - | 1 |
| 1-182554725-G-A | c.1217C>T | p.S406F | Missense | 2/7 | - | 12 |
| 1-182554725-G-C | c.1217C>G | p.S406C | Missense | 2/7 | - | 1 |
| 1-182554728-A-G | c.1214T>C | p.V405A | Missense | 2/7 | - | 1 |
| 1-182554733-C-T | c.1209G>A | p.R403= | Synonymous | 2/7 | - | 1 |
| 1-182554734-C-A | c.1208G>T | p.R403L | Missense | 2/7 | - | 2 |
| 1-182554735-G-A | c.1207C>T | p.R403W | Missense | 2/7 | - | 1 |
| 1-182554735-G-C | c.1207C>G | p.R403G | Missense | 2/7 | - | 1 |
| 1-182554738-G-C | c.1204C>G | p.Q402E | Missense | 2/7 | - | 1 |
| 1-182554741-C-A | c.1201G>T | p.A401S | Missense | 2/7 | - | 1 |
| 1-182554742-AC-TT | c.1199_1200delinsAA | p.R400Q | Missense | 2/7 | - | 1 |
| 1-182554743-C-G | c.1199G>C | p.R400P | Missense | 2/7 | - | 7 |
| 1-182554743-C-T | c.1199G>A | p.R400H | Missense | 2/7 | - | 6 |
| 1-182554744-G-A | c.1198C>T | p.R400C | Missense | 2/7 | - | 1 |
| 1-182554744-G-T | c.1198C>A | p.R400S | Missense | 2/7 | - | 3 |
| 1-182554748-G-C | c.1194C>G | p.S398R | Missense | 2/7 | - | 1 |
| 1-182554753-C-A | c.1189G>T | p.G397C | Missense | 2/7 | - | 2 |
| 1-182554753-C-G | c.1189G>C | p.G397R | Missense | 2/7 | - | 1 |
| 1-182554758-CA-GT | c.1183_1184delinsAC | p.C395T | Missense | 2/7 | - | 1 |
| 1-182554760-G-T | c.1182C>A | p.F394L | Missense | 2/7 | - | 1 |
| 1-182554762-A-T | c.1180T>A | p.F394I | Missense | 2/7 | - | 1 |
| 1-182554763-C-A | c.1179G>T | p.T393= | Synonymous | 2/7 | - | 2 |
| 1-182554763-C-G | c.1179G>C | p.T393= | Synonymous | 2/7 | - | 1 |
| 1-182554763-CG-GA | c.1178_1179delinsTC | p.T393I | Missense | 2/7 | - | 1 |
| 1-182554763-CGT-ACA | c.1177_1179delinsTGT | p.T393C | Missense | 2/7 | - | 1 |
| 1-182554763-C-T | c.1179G>A | p.T393= | Synonymous | 2/7 | - | 2 |
| 1-182554764-G-A | c.1178C>T | p.T393M | Missense | 2/7 | - | 1 |
| 1-182554766-C-A | c.1176G>T | p.K392N | Missense | 2/7 | - | 1 |
| 1-182554767-T-C | c.1175A>G | p.K392R | Missense | 2/7 | - | 3 |
| 1-182554768-T-TG | c.1173_1174insC | p.K392Qfs*5 | Frameshift | 2/7 | - | 1 |
| 1-182554771-C-T | c.1171G>A | p.V391M | Missense | 2/7 | - | 2 |
| 1-182554774-C-A | c.1168G>T | p.A390S | Missense | 2/7 | - | 1 |
| 1-182554777-C-A | c.1165G>T | p.V389L | Missense | 2/7 | - | 1 |
| 1-182554777-C-G | c.1165G>C | p.V389L | Missense | 2/7 | - | 1 |
| 1-182554777-C-T | c.1165G>A | p.V389I | Missense | 2/7 | - | 1 |
| 1-182554778-T-G | c.1164A>C | p.E388D | Missense | 2/7 | - | 1 |
| 1-182554782-T-G | c.1160A>C | p.Q387P | Missense | 2/7 | - | 2 |
| 1-182554787-C-A | c.1155G>T | p.E385D | Missense | 2/7 | - | 1 |
| 1-182554790-A-C | c.1152T>G | p.Y384* | Nonsense | 2/7 | - | 1 |
| 1-182554791-T-C | c.1151A>G | p.Y384C | Missense | 2/7 | - | 1 |
| 1-182554792-A-G | c.1150T>C | p.Y384H | Missense | 2/7 | - | 1 |
| 1-182554793-GA-G | c.1148del | p.F383Sfs*7 | Frameshift | 2/7 | - | 2 |
| 1-182554793-G-C | c.1149C>G | p.F383L | Missense | 2/7 | - | 2 |
| 1-182554793-G-T | c.1149C>A | p.F383L | Missense | 2/7 | - | 2 |
| 1-182554795-A-G | c.1147T>C | p.F383L | Missense | 2/7 | - | 3 |
| 1-182554796-CC-GT | c.1145_1146delinsAC | p.G382D | Missense | 2/7 | - | 1 |
| 1-182554798-C-A | c.1144G>T | p.G382W | Missense | 2/7 | - | 1 |
| 1-182554795-AC-A | c.1146del | p.F383Sfs*7 | Frameshift | 2/7 | - | 1 |
| 1-182554805-G-A | c.1137C>T | p.I379= | Synonymous | 2/7 | - | 1 |
| 1-182554805-G-C | c.1137C>G | p.I379M | Missense | 2/7 | - | 1 |
| 1-182554807-T-C | c.1135A>G | p.I379V | Missense | 2/7 | - | 1 |
| 1-182554809-C-A | c.1133G>T | p.G378V | Missense | 2/7 | - | 1 |
| 1-182554809-C-T | c.1133G>A | p.G378D | Missense | 2/7 | - | 2 |
| 1-182554816-C-A | c.1126G>T | p.E376* | Nonsense | 2/7 | - | 1 |
| 1-182554816-C-T | c.1126G>A | p.E376K | Missense | 2/7 | - | 1 |
| 1-182554818-G-T | c.1124C>A | p.S375* | Nonsense | 2/7 | - | 1 |
| 1-182554820-AG-CA | c.1121_1122delinsTG | p.T374M | Missense | 2/7 | - | 1 |
| 1-182554822-T-C | c.1120A>G | p.T374A | Missense | 2/7 | - | 1 |
| 1-182554825-C-G | c.1117G>C | p.D373H | Missense | 2/7 | - | 1 |
| 1-182554825-C-T | c.1117G>A | p.D373N | Missense | 2/7 | - | 1 |
| 1-182554827-G-T | c.1115C>A | p.A372D | Missense | 2/7 | - | 1 |
| 1-182554843-C-G | c.1099G>C | p.E367Q | Missense | 2/7 | - | 1 |
| 1-182554844-A-T | c.1098T>A | p.D366E | Missense | 2/7 | - | 2 |
| 1-182554850-A-G | c.1092T>C | p.F364= | Synonymous | 2/7 | - | 1 |
| 1-182554850-A-C | c.1092T>G | p.F364L | Missense | 2/7 | - | 3 |
| 1-182554850-A-T | c.1092T>A | p.F364L | Missense | 2/7 | - | 3 |
| 1-182554852-A-G | c.1090T>C | p.F364L | Missense | 2/7 | - | 3 |
| 1-182554860-A-C | c.1082T>G | p.L361R | Missense | 2/7 | - | 1 |
| 1-182554860-A-G | c.1082T>C | p.L361P | Missense | 2/7 | - | 4 |
| 1-182554864-T-C | c.1078A>G | p.K360E | Missense | 2/7 | - | 1 |
| 1-182554866-C-G | c.1076G>C | p.G359A | Missense | 2/7 | - | 1 |
| 1-182554870-T-A | c.1072A>T | p.I358F | Missense | 2/7 | - | 1 |
| 1-182554871-C-A | c.1071G>T | p.M357I | Missense | 2/7 | - | 1 |
| 1-182554871-C-G | c.1071G>C | p.M357I | Missense | 2/7 | - | 1 |
| 1-182554871-C-T | c.1071G>A | p.M357I | Missense | 2/7 | - | 1 |
| 1-182554878-C-A | c.1064G>T | p.R355L | Missense | 2/7 | - | 1 |
| 1-182554878-C-T | c.1064G>A | p.R355H | Missense | 2/7 | - | 5 |
| 1-182554879-G-A | c.1063C>T | p.R355C | Missense | 2/7 | - | 5 |
| 1-182554879-G-T | c.1063C>A | p.R355S | Missense | 2/7 | - | 1 |
| 1-182554886-TCT-ATG | c.1054_1056delinsCAT | p.R352H | Missense | 2/7 | - | 1 |
| 1-182554887-C-A | c.1055G>T | p.R352I | Missense | 2/7 | - | 1 |
| 1-182554906-C-A | c.1036G>T | p.A346S | Missense | 2/7 | - | 1 |
| 1-182554906-C-T | c.1036G>A | p.A346T | Missense | 2/7 | - | 1 |
| 1-182554909-C-T | c.1033G>A | p.A345T | Missense | 2/7 | - | 1 |
| 1-182554908-GC-G | c.1033del | p.A345Qfs*3 | Frameshift | 2/7 | - | 3 |
| 1-182554908-G-GC | c.1033dup | p.A345Gfs*22 | Frameshift | 2/7 | - | 3 |
| 1-182554915-A-C | c.1027T>G | p.W343G | Missense | 2/7 | - | 1 |
| 1-182554916-G-C | c.1026C>G | p.H342Q | Missense | 2/7 | - | 1 |
| 1-182554916-G-T | c.1026C>A | p.H342Q | Missense | 2/7 | - | 1 |
| 1-182554918-G-A | c.1024C>T | p.H342Y | Missense | 2/7 | - | 1 |
| 1-182554923-C-T | c.1019G>A | p.S340N | Missense | 2/7 | - | 1 |
| 1-182554925-C-A | c.1017G>T | p.Q339H | Missense | 2/7 | - | 2 |
| 1-182554925-C-G | c.1017G>C | p.Q339H | Missense | 2/7 | - | 2 |
| 1-182554926-T-G | c.1016A>C | p.Q339P | Missense | 2/7 | - | 1 |
| 1-182554927-G-A | c.1015C>T | p.Q339* | Nonsense | 2/7 | - | 6 |
| 1-182554929-G-A | c.1013C>T | p.P338L | Missense | 2/7 | - | 1 |
| 1-182554932-T-A | c.1010A>T | p.K337M | Missense | 2/7 | - | 1 |
| 1-182554934-C-A | c.1008G>T | p.W336C | Missense | 2/7 | - | 3 |
| 1-182554934-C-G | c.1008G>C | p.W336C | Missense | 2/7 | - | 2 |
| 1-182554935-C-A | c.1007G>T | p.W336L | Missense | 2/7 | - | 1 |
| 1-182554939-C-G | c.1003G>C | p.D335H | Missense | 2/7 | - | 1 |
| 1-182554939-C-T | c.1003G>A | p.D335N | Missense | 2/7 | - | 1 |
| 1-182554942-C-T | c.1000G>A | p.E334K | Missense | 2/7 | - | 2 |
| 1-182554944-G-T | c.998C>A | p.A333D | Missense | 2/7 | - | 6 |
| 1-182554949-A-C | c.993T>G | p.P331= | Synonymous | 2/7 | - | 1 |
| 1-182554951-G-A | c.991C>T | p.P331S | Missense | 2/7 | - | 4 |
| 1-182554960-C-A | c.982G>T | p.D328Y | Missense | 2/7 | - | 2 |
| 1-182554965-T-C | c.977A>G | p.K326R | Missense | 2/7 | - | 3 |
| 1-182554966-T-C | c.976A>G | p.K326E | Missense | 2/7 | - | 1 |
| 1-182554968-G-A | c.974C>T | p.A325V | Missense | 2/7 | - | 2 |
| 1-182554970-T-A | c.972A>T | p.G324= | Synonymous | 2/7 | - | 1 |
| 1-182554972-C-G | c.970G>C | p.G324R | Missense | 2/7 | - | 1 |
| 1-182554972-C-T | c.970G>A | p.G324R | Missense | 2/7 | - | 1 |
| 1-182554975-G-A | c.967C>T | p.H323Y | Missense | 2/7 | - | 2 |
| 1-182554975-G-C | c.967C>G | p.H323D | Missense | 2/7 | - | 1 |
| 1-182554977-G-A | c.965C>T | p.S322F | Missense | 2/7 | - | 1 |
| 1-182554987-C-T | c.955G>A | p.V319I | Missense | 2/7 | - | 1 |
| 1-182554989-T-G | c.953A>C | p.K318T | Missense | 2/7 | - | 1 |
| 1-182554990-T-G | c.952A>C | p.K318Q | Missense | 2/7 | - | 1 |
| 1-182554992-A-C | c.950T>G | p.V317G | Missense | 2/7 | - | 1 |
| 1-182554997-G-A | c.945C>T | p.S315= | Synonymous | 2/7 | - | 1 |
| 1-182554997-G-C | c.945C>G | p.S315= | Synonymous | 2/7 | - | 1 |
| 1-182554997-G-T | c.945C>A | p.S315= | Synonymous | 2/7 | - | 1 |
| 1-182555001-T-C | c.941A>G | p.H314R | Missense | 2/7 | - | 2 |
| 1-182555007-TA-GC | c.934_935delinsGC | p.Y312A | Missense | 2/7 | - | 2 |
| 1-182555008-A-C | c.934T>G | p.Y312D | Missense | 2/7 | - | 1 |
| 1-182555012-CCG-GCT | c.928_930delinsAGC | p.R310S | Missense | 2/7 | - | 1 |
| 1-182555013-CG-TT | c.928_929delinsAA | p.R310K | Missense | 2/7 | - | 1 |
| 1-182555013-C-T | c.929G>A | p.R310Q | Missense | 2/7 | - | 2 |
| 1-182555014-G-A | c.928C>T | p.R310W | Missense | 2/7 | - | 5 |
| 1-182555019-G-A | c.923C>T | p.A308V | Missense | 2/7 | - | 4 |
| 1-182555019-G-C | c.923C>G | p.A308G | Missense | 2/7 | - | 1 |
| 1-182555025-A-T | c.917T>A | p.M306K | Missense | 2/7 | - | 1 |
| 1-182555032-G-A | c.910C>T | p.L304F | Missense | 2/7 | - | 2 |
| 1-182555032-G-C | c.910C>G | p.L304V | Missense | 2/7 | - | 2 |
| 1-182555033-A-C | c.909T>G | p.D303E | Missense | 2/7 | - | 1 |
| 1-182555033-A-T | c.909T>A | p.D303E | Missense | 2/7 | - | 1 |
| 1-182555035-C-CA | c.906_907insT | p.D303* | Nonsense | 2/7 | - | 1 |
| 1-182555038-C-A | c.904G>T | p.G302W | Missense | 2/7 | - | 2 |
| 1-182555041-A-G | c.901T>C | p.C301R | Missense | 2/7 | - | 2 |
| 1-182555045-TGT-ACA | c.895_897inv | p.T299C | Missense | 2/7 | - | 1 |
| 1-182555046-G-C | c.896C>G | p.T299R | Missense | 2/7 | - | 1 |
| 1-182555053-C-T | c.889G>A | p.A297T | Missense | 2/7 | - | 2 |
| 1-182555055-C-A | c.887G>T | p.G296V | Missense | 2/7 | - | 3 |
| 1-182555056-C-T | c.886G>A | p.G296R | Missense | 2/7 | - | 2 |
| 1-182555058-C-T | c.884G>A | p.R295H | Missense | 2/7 | - | 1 |
| 1-182555060-T-C | c.882A>G | p.K294= | Synonymous | 2/7 | - | 1 |
| 1-182555061-T-C | c.881A>G | p.K294R | Missense | 2/7 | - | 1 |
| 1-182555062-T-C | c.880A>G | p.K294E | Missense | 2/7 | - | 3 |
| 1-182555065-A-C | c.877T>G | p.C293G | Missense | 2/7 | - | 1 |
| 1-182555067-A-G | c.875T>C | p.L292P | Missense | 2/7 | - | 2 |
| 1-182555074-C-T | c.868G>A | p.E290K | Missense | 2/7 | - | 4 |
| 1-182555076-GC-CA | c.865_866delinsTG | p.A289C | Missense | 2/7 | - | 2 |
| 1-182555077-C-A | c.865G>T | p.A289S | Missense | 2/7 | - | 1 |
| 1-182555077-C-G | c.865G>C | p.A289P | Missense | 2/7 | - | 1 |
| 1-182555077-C-T | c.865G>A | p.A289T | Missense | 2/7 | - | 3 |
| 1-182555078-G-A | c.864C>T | p.I288= | Synonymous | 2/7 | - | 3 |
| 1-182555078-G-T | c.864C>A | p.I288= | Synonymous | 2/7 | - | 1 |
| 1-182555084-C-A | c.858G>T | p.K286N | Missense | 2/7 | - | 1 |
| 1-182555089-G-T | c.853C>A | p.L285M | Missense | 2/7 | - | 1 |
| 1-182555090-T-A | c.852A>T | p.K284N | Missense | 2/7 | - | 1 |
| 1-182555090-T-G | c.852A>C | p.K284N | Missense | 2/7 | - | 1 |
| 1-182555089-G-GT | c.852dup | p.L285Tfs*29 | Frameshift | 2/7 | - | 1 |
| 1-182555093-G-C | c.849C>G | p.L283= | Synonymous | 2/7 | - | 1 |
| 1-182555098-C-A | c.844G>T | p.E282* | Nonsense | 2/7 | - | 3 |
| 1-182555098-C-G | c.844G>C | p.E282Q | Missense | 2/7 | - | 1 |
| 1-182555098-C-T | c.844G>A | p.E282K | Missense | 2/7 | - | 1 |
| 1-182555103-G-A | c.839C>T | p.A280V | Missense | 2/7 | - | 1 |
| 1-182555103-G-C | c.839C>G | p.A280G | Missense | 2/7 | - | 1 |
| 1-182555104-C-T | c.838G>A | p.A280T | Missense | 2/7 | - | 1 |
| 1-182555107-G-A | c.835C>T | p.L279F | Missense | 2/7 | - | 1 |
| 1-182555107-G-T | c.835C>A | p.L279I | Missense | 2/7 | - | 1 |
| 1-182555113-AG-A | c.829del | p.L277Cfs*9 | Frameshift | 2/7 | - | 1 |
| 1-182555115-G-A | c.827C>T | p.A276V | Missense | 2/7 | - | 3 |
| 1-182555115-G-T | c.827C>A | p.A276E | Missense | 2/7 | - | 2 |
| 1-182555129-CACTGTCTGTGTCATTAATCT-C | c.794_813del | p.E265Gfs*11 | Frameshift | 2/7 | - | 1 |
| 1-182555130-C-G | c.812G>C | p.S271T | Missense | 2/7 | - | 2 |
| 1-182555130-C-T | c.812G>A | p.S271N | Missense | 2/7 | - | 2 |
| 1-182555141-A-C | c.801T>G | p.N267K | Missense | 2/7 | - | 1 |
| 1-182555143-T-A | c.799A>T | p.N267Y | Missense | 2/7 | - | 1 |
| 1-182555143-T-C | c.799A>G | p.N267D | Missense | 2/7 | - | 1 |
| 1-182555147-C-G | c.795G>C | p.E265D | Missense | 2/7 | - | 1 |
| 1-182555149-C-A | c.793G>T | p.E265* | Nonsense | 2/7 | - | 62 |
| 1-182555149-C-G | c.793G>C | p.E265Q | Missense | 2/7 | - | 1 |
| 1-182555155-G-A | c.787C>T | p.H263Y | Missense | 2/7 | - | 1 |
| 1-182555158-C-A | c.784G>T | p.E262* | Nonsense | 2/7 | - | 3 |
| 1-182555169-A-T | c.773T>A | p.L258H | Missense | 2/7 | - | 2 |
| 1-182555172-C-G | c.770G>C | p.R257T | Missense | 2/7 | - | 1 |
| 1-182555176-G-A | c.766C>T | p.Q256* | Nonsense | 2/7 | - | 3 |
| 1-182555179-C-T | c.763G>A | p.V255M | Missense | 2/7 | - | 1 |
| 1-182555184-C-T | c.758G>A | p.G253D | Missense | 2/7 | - | 1 |
| 1-182555185-C-A | c.757G>T | p.G253C | Missense | 2/7 | - | 1 |
| 1-182555186-C-A | c.756G>T | p.L252F | Missense | 2/7 | - | 1 |
| 1-182555190-T-C | c.752A>G | p.H251R | Missense | 2/7 | - | 1 |
| 1-182555193-T-A | c.749A>T | p.K250M | Missense | 2/7 | - | 3 |
| 1-182555195-C-A | c.747G>T | p.K249N | Missense | 2/7 | - | 2 |
| 1-182555195-C-G | c.747G>C | p.K249N | Missense | 2/7 | - | 2 |
| 1-182555196-T-A | c.746A>T | p.K249M | Missense | 2/7 | - | 1 |
| 1-182555198-C-A | c.744G>T | p.E248D | Missense | 2/7 | - | 2 |
| 1-182555198-C-G | c.744G>C | p.E248D | Missense | 2/7 | - | 1 |
| 1-182555202-A-G | c.740T>C | p.V247A | Missense | 2/7 | - | 1 |
| 1-182555204-T-G | c.738A>C | p.A246= | Synonymous | 2/7 | - | 1 |
| 1-182555206-C-T | c.736G>A | p.A246T | Missense | 2/7 | - | 1 |
| 1-182555210-G-A | c.732C>T | p.I244= | Synonymous | 2/7 | - | 1 |
| 1-182555210-G-T | c.732C>A | p.I244= | Synonymous | 2/7 | - | 1 |
| 1-182555212-T-C | c.730A>G | p.I244V | Missense | 2/7 | - | 1 |
| 1-182555217-G-C | c.725C>G | p.P242R | Missense | 2/7 | - | 1 |
| 1-182555218-G-A | c.724C>T | p.P242S | Missense | 2/7 | - | 2 |
| 1-182555219-AG-CA | c.722_723delinsTG | p.T241M | Missense | 2/7 | - | 1 |
| 1-182555222-C-A | c.720G>T | p.K240N | Missense | 2/7 | - | 1 |
| 1-182555222-C-G | c.720G>C | p.K240N | Missense | 2/7 | - | 1 |
| 1-182555222-C-T | c.720G>A | p.K240= | Synonymous | 2/7 | - | 1 |
| 1-182555223-T-C | c.719A>G | p.K240R | Missense | 2/7 | - | 2 |
| 1-182555223-T-G | c.719A>C | p.K240T | Missense | 2/7 | - | 2 |
| 1-182555226-CC-TG | c.715_716delinsCA | p.G239Q | Missense | 2/7 | - | 2 |
| 1-182555226-C-T | c.716G>A | p.G239E | Missense | 2/7 | - | 2 |
| 1-182555227-C-A | c.715G>T | p.G239W | Missense | 2/7 | - | 1 |
| 1-182555227-C-G | c.715G>C | p.G239R | Missense | 2/7 | - | 2 |
| 1-182555227-C-T | c.715G>A | p.G239R | Missense | 2/7 | - | 3 |
| 1-182555228-TCT-ATG | c.712_714delinsCAT | p.R238H | Missense | 2/7 | - | 1 |
| 1-182555229-C-G | c.713G>C | p.R238T | Missense | 2/7 | - | 1 |
| 1-182555233-C-G | c.709G>C | p.E237Q | Missense | 2/7 | - | 1 |
| 1-182555244-T-C | c.698A>G | p.N233S | Missense | 2/7 | - | 2 |
| 1-182555244-T-G | c.698A>C | p.N233T | Missense | 2/7 | - | 1 |
| 1-182555251-C-A | c.691G>T | p.D231Y | Missense | 2/7 | - | 1 |
| 1-182555252-CAG-C | c.689_690del | p.A230Gfs*37 | Frameshift | 2/7 | - | 1 |
| 1-182555254-C-A | c.688G>T | p.A230S | Missense | 2/7 | - | 1 |
| 1-182555256-C-T | c.686G>A | p.G229E | Missense | 2/7 | - | 1 |
| 1-182555257-C-A | c.685G>T | p.G229W | Missense | 2/7 | - | 2 |
| 1-182555265-A-G | c.677T>C | p.L226P | Missense | 2/7 | - | 1 |
| 1-182555270-C-A | c.672G>T | p.L224= | Synonymous | 2/7 | - | 1 |
| 1-182555270-C-G | c.672G>C | p.L224= | Synonymous | 2/7 | - | 1 |
| 1-182555270-C-T | c.672G>A | p.L224= | Synonymous | 2/7 | - | 1 |
| 1-182555272-G-A | c.670C>T | p.L224= | Synonymous | 2/7 | - | 2 |
| 1-182555271-A-G | c.671T>C | p.L224P | Missense | 2/7 | - | 1 |
| 1-182555273-A-C | c.669T>G | p.H223Q | Missense | 2/7 | - | 1 |
| 1-182555276-C-A | c.666G>T | p.T222= | Synonymous | 2/7 | - | 2 |
| 1-182555276-C-G | c.666G>C | p.T222= | Synonymous | 2/7 | - | 2 |
| 1-182555276-C-T | c.666G>A | p.T222= | Synonymous | 2/7 | - | 2 |
| 1-182555277-G-A | c.665C>T | p.T222M | Missense | 2/7 | - | 3 |
| 1-182555277-G-GT | c.664dup | p.T222Nfs*10 | Frameshift | 2/7 | - | 1 |
| 1-182555277-G-GTT | c.664_665insAA | p.T222Kfs*14 | Frameshift | 2/7 | - | 1 |
| 1-182555278-T-A | c.664A>T | p.T222S | Missense | 2/7 | - | 4 |
| 1-182555281-T-C | c.661A>G | p.I221V | Missense | 2/7 | - | 2 |
| 1-182555287-C-G | c.655G>C | p.E219Q | Missense | 2/7 | - | 1 |
| 1-182555287-C-T | c.655G>A | p.E219K | Missense | 2/7 | - | 2 |
| 1-182555288-C-A | c.654G>T | p.V218= | Synonymous | 2/7 | - | 1 |
| 1-182555288-C-G | c.654G>C | p.V218= | Synonymous | 2/7 | - | 1 |
| 1-182555288-C-T | c.654G>A | p.V218= | Synonymous | 2/7 | - | 1 |
| 1-182555290-C-T | c.652G>A | p.V218M | Missense | 2/7 | - | 2 |
| 1-182555292-T-A | c.650A>T | p.D217V | Missense | 2/7 | - | 1 |
| 1-182555299-C-T | c.643G>A | p.D215N | Missense | 2/7 | - | 2 |
| 1-182555300-G-A | c.642C>T | p.D214= | Synonymous | 2/7 | - | 4 |
| 1-182555307-C-T | c.635G>A | p.S212N | Missense | 2/7 | - | 2 |
| 1-182555312-G-C | c.630C>G | p.L210= | Synonymous | 2/7 | - | 1 |
| 1-182555314-G-A | c.628C>T | p.L210F | Missense | 2/7 | - | 1 |
| 1-182555316-G-A | c.626C>T | p.A209V | Missense | 2/7 | - | 1 |
| 1-182555316-G-C | c.626C>G | p.A209G | Missense | 2/7 | - | 1 |
| 1-182555334-C-T | c.608G>A | p.R203K | Missense | 2/7 | - | 1 |
| 1-182555338-C-A | c.604G>T | p.G202C | Missense | 2/7 | - | 1 |
| 1-182555340-A-G | c.602T>C | p.M201T | Missense | 2/7 | - | 1 |
| 1-182555344-T-G | c.598A>C | p.N200H | Missense | 2/7 | - | 1 |
| 1-182555352-G-A | c.590C>T | p.A197V | Missense | 2/7 | - | 1 |
| 1-182555353-C-T | c.589G>A | p.A197T | Missense | 2/7 | - | 4 |
| 1-182555354-G-A | c.588C>T | p.N196= | Synonymous | 2/7 | - | 6 |
| 1-182555359-C-T | c.583G>A | p.V195I | Missense | 2/7 | - | 1 |
| 1-182555360-A-G | c.582T>C | p.D194= | Synonymous | 2/7 | - | 1 |
| 1-182555367-C-G | c.575G>C | p.G192A | Missense | 2/7 | - | 1 |
| 1-182555367-C-T | c.575G>A | p.G192E | Missense | 2/7 | - | 1 |
| 1-182555371-T-A | c.571A>T | p.M191L | Missense | 2/7 | - | 2 |
| 1-182555371-T-C | c.571A>G | p.M191V | Missense | 2/7 | - | 2 |
| 1-182555371-T-G | c.571A>C | p.M191L | Missense | 2/7 | - | 2 |
| 1-182555374-C-T | c.568G>A | p.E190K | Missense | 2/7 | - | 1 |
| 1-182555375-A-C | c.567T>G | p.D189E | Missense | 2/7 | - | 1 |
| 1-182555376-T-A | c.566A>T | p.D189V | Missense | 2/7 | - | 2 |
| 1-182555377-C-G | c.565G>C | p.D189H | Missense | 2/7 | - | 3 |
| 1-182555377-C-T | c.565G>A | p.D189N | Missense | 2/7 | - | 1 |
| 1-182555381-G-A | c.561C>T | p.L187= | Synonymous | 2/7 | - | 3 |
| 1-182555381-G-C | c.561C>G | p.L187= | Synonymous | 2/7 | - | 1 |
| 1-182555381-G-T | c.561C>A | p.L187= | Synonymous | 2/7 | - | 1 |
| 1-182555382-A-C | c.560T>G | p.L187R | Missense | 2/7 | - | 1 |
| 1-182555383-G-C | c.559C>G | p.L187V | Missense | 2/7 | - | 1 |
| 1-182555387-C-A | c.555G>T | p.K185N | Missense | 2/7 | - | 1 |
| 1-182555387-C-G | c.555G>C | p.K185N | Missense | 2/7 | - | 1 |
| 1-182555391-A-G | c.551T>C | p.L184S | Missense | 2/7 | - | 2 |
| 1-182555395-C-A | c.547G>T | p.V183F | Missense | 2/7 | - | 1 |
| 1-182555396-C-A | c.546G>T | p.E182D | Missense | 2/7 | - | 1 |
| 1-182555396-C-T | c.546G>A | p.E182= | Synonymous | 2/7 | - | 1 |
| 1-182555398-C-G | c.544G>C | p.E182Q | Missense | 2/7 | - | 2 |
| 1-182555401-C-A | c.541G>T | p.V181L | Missense | 2/7 | - | 1 |
| 1-182555401-C-G | c.541G>C | p.V181L | Missense | 2/7 | - | 1 |
| 1-182555401-C-T | c.541G>A | p.V181I | Missense | 2/7 | - | 4 |
| 1-182555402-G-A | c.540C>T | p.H180= | Synonymous | 2/7 | - | 1 |
| 1-182555403-T-C | c.539A>G | p.H180R | Missense | 2/7 | - | 1 |
| 1-182555407-C-G | c.535G>C | p.G179R | Missense | 2/7 | - | 2 |
| 1-182555407-C-T | c.535G>A | p.G179R | Missense | 2/7 | - | 2 |
| 1-182555409-T-C | c.533A>G | p.K178R | Missense | 2/7 | - | 1 |
| 1-182555413-C-A | c.529G>T | p.E177* | Nonsense | 2/7 | - | 1 |
| 1-182555414-A-AG | c.527dup | p.E177* | Nonsense | 2/7 | - | 1 |
| 1-182555419-C-A | c.523G>T | p.A175S | Missense | 2/7 | - | 1 |
| 1-182555419-C-G | c.523G>C | p.A175P | Missense | 2/7 | - | 1 |
| 1-182555419-C-T | c.523G>A | p.A175T | Missense | 2/7 | - | 2 |
| 1-182555420-G-A | c.522C>T | p.D174= | Synonymous | 2/7 | - | 1 |
| 1-182555420-G-T | c.522C>A | p.D174E | Missense | 2/7 | - | 2 |
| 1-182555421-T-C | c.521A>G | p.D174G | Missense | 2/7 | - | 3 |
| 1-182555421-TC-T | c.520del | p.D174Tfs*8 | Frameshift | 2/7 | - | 1 |
| 1-182555423-C-A | c.519G>T | p.M173I | Missense | 2/7 | - | 2 |
| 1-182555423-C-G | c.519G>C | p.M173I | Missense | 2/7 | - | 2 |
| 1-182555423-C-T | c.519G>A | p.M173I | Missense | 2/7 | - | 2 |
| 1-182555425-T-A | c.517A>T | p.M173L | Missense | 2/7 | - | 1 |
| 1-182555425-T-G | c.517A>C | p.M173L | Missense | 2/7 | - | 2 |
| 1-182555426-G-A | c.516C>T | p.L172= | Synonymous | 2/7 | - | 1 |
| 1-182555430-G-A | c.512C>T | p.A171V | Missense | 2/7 | - | 2 |
| 1-182555431-C-G | c.511G>C | p.A171P | Missense | 2/7 | - | 1 |
| 1-182555435-G-A | c.507C>T | p.A169= | Synonymous | 2/7 | - | 1 |
| 1-182555436-G-C | c.506C>G | p.A169G | Missense | 2/7 | - | 1 |
| 1-182555438-C-T | c.504G>A | p.G168= | Synonymous | 2/7 | - | 2 |
| 1-182555439-C-G | c.503G>C | p.G168A | Missense | 2/7 | - | 1 |
| 1-182555440-C-A | c.502G>T | p.G168W | Missense | 2/7 | - | 3 |
| 1-182555441-T-A | c.501A>T | p.G167= | Synonymous | 2/7 | - | 1 |
| 1-182555444-T-C | c.498A>G | p.K166= | Synonymous | 2/7 | - | 1 |
| 1-182555446-T-C | c.496A>G | p.K166E | Missense | 2/7 | - | 1 |
| 1-182555453-C-G | c.489G>C | p.R163= | Synonymous | 2/7 | - | 1 |
| 1-182555458-C-A | c.484G>T | p.E162* | Nonsense | 2/7 | - | 2 |
| 1-182555464-C-A | c.478G>T | p.D160Y | Missense | 2/7 | - | 1 |
| 1-182555468-CCTTT-C | c.471_474del | p.K158Rfs*6 | Frameshift | 2/7 | - | 6 |
| 1-182555471-T-A | c.471A>T | p.T157= | Synonymous | 2/7 | - | 1 |
| 1-182555471-T-C | c.471A>G | p.T157= | Synonymous | 2/7 | - | 1 |
| 1-182555471-T-G | c.471A>C | p.T157= | Synonymous | 2/7 | - | 1 |
| 1-182555472-G-A | c.470C>T | p.T157I | Missense | 2/7 | - | 2 |
| 1-182555475-T-C | c.467A>G | p.K156R | Missense | 2/7 | - | 1 |
| 1-182555478-C-A | c.464G>T | p.R155L | Missense | 2/7 | - | 1 |
| 1-182555478-C-T | c.464G>A | p.R155Q | Missense | 2/7 | - | 2 |
| 1-182555479-G-A | c.463C>T | p.R155* | Nonsense | 2/7 | - | 9 |
| 1-182555483-C-G | c.459G>C | p.L153F | Missense | 2/7 | - | 3 |
| 1-182555488-T-C | c.454A>G | p.N152D | Missense | 2/7 | - | 1 |
| 1-182555489-CAC-GAT | c.451_453delinsATC | p.V151I | Missense | 2/7 | - | 1 |
| 1-182555497-C-T | c.445G>A | p.A149T | Missense | 2/7 | - | 1 |
| 1-182555506-T-TA | c.435dup | p.K146* | Nonsense | 2/7 | - | 1 |
| 1-182555508-T-C | c.434A>G | p.Y145C | Missense | 2/7 | - | 2 |
| 1-182555513-G-A | c.429C>T | p.F143= | Synonymous | 2/7 | - | 1 |
| 1-182555514-A-G | c.428T>C | p.F143S | Missense | 2/7 | - | 3 |
| 1-182555524-C-A | c.418G>T | p.A140S | Missense | 2/7 | - | 5 |
| 1-182555524-C-T | c.418G>A | p.A140T | Missense | 2/7 | - | 1 |
| 1-182555526-T-C | c.416A>G | p.K139R | Missense | 2/7 | - | 1 |
| 1-182555528-G-A | c.414C>T | p.V138= | Synonymous | 2/7 | - | 1 |
| 1-182555530-C-A | c.412G>T | p.V138F | Missense | 2/7 | - | 1 |
| 1-182555531-C-G | c.411G>C | p.K137N | Missense | 2/7 | - | 3 |
| 1-182555531-C-T | c.411G>A | p.K137= | Synonymous | 2/7 | - | 1 |
| 1-182555534-A-G | c.408T>C | p.G136= | Synonymous | 2/7 | - | 4 |
| 1-182555535-C-T | c.407G>A | p.G136D | Missense | 2/7 | - | 1 |
| 1-182555537-A-C | c.405T>G | p.Y135* | Nonsense | 2/7 | - | 1 |
| 1-182555537-A-T | c.405T>A | p.Y135* | Nonsense | 2/7 | - | 1 |
| 1-182555538-TA-GC | c.403_404delinsGC | p.Y135A | Missense | 2/7 | - | 1 |
| 1-182555546-G-A | c.396C>T | p.A132= | Synonymous | 2/7 | - | 1 |
| 1-182555547-G-A | c.395C>T | p.A132V | Missense | 2/7 | - | 2 |
| 1-182555559-G-A | c.383C>T | p.A128V | Missense | 2/7 | - | 4 |
| 1-182555559-G-T | c.383C>A | p.A128D | Missense | 2/7 | - | 4 |
| 1-182555564-G-A | c.378C>T | p.F126= | Synonymous | 2/7 | - | 1 |
| 1-182555565-AA-GC | c.376_377delinsGC | p.F126A | Missense | 2/7 | - | 1 |
| 1-182555569-C-G | c.373G>C | p.G125R | Missense | 2/7 | - | 1 |
| 1-182555572-A-G | c.370T>C | p.Y124H | Missense | 2/7 | - | 1 |
| 1-182555571-TA-T | c.370del | p.Y124Mfs*18 | Frameshift | 2/7 | - | 1 |
| 1-182555577-T-C | c.365A>G | p.D122G | Missense | 2/7 | - | 1 |
| 1-182555580-C-T | c.362G>A | p.C121Y | Missense | 2/7 | - | 1 |
| 1-182555586-T-G | c.356A>C | p.N119T | Missense | 2/7 | - | 1 |
| 1-182555588-G-A | c.354C>T | p.V118= | Synonymous | 2/7 | - | 1 |
| 1-182555592-T-A | c.350A>T | p.D117V | Missense | 2/7 | - | 1 |
| 1-182555592-T-C | c.350A>G | p.D117G | Missense | 2/7 | - | 1 |
| 1-182555593-C-G | c.349G>C | p.D117H | Missense | 2/7 | - | 1 |
| 1-182555593-C-T | c.349G>A | p.D117N | Missense | 2/7 | - | 1 |
| 1-182555595-G-A | c.347C>T | p.A116V | Missense | 2/7 | - | 1 |
| 1-182555596-C-T | c.346G>A | p.A116T | Missense | 2/7 | - | 1 |
| 1-182555598-C-T | c.344G>A | p.G115E | Missense | 2/7 | - | 1 |
| 1-182555599-C-A | c.343G>T | p.G115* | Nonsense | 2/7 | - | 1 |
| 1-182555600-T-TCTC | c.341_342insGAG | p.K114_G115insR | InFrameInsertion | 2/7 | - | 1 |
| 1-182555602-T-C | c.340A>G | p.K114E | Missense | 2/7 | - | 4 |
| 1-182555603-A-C | c.339T>G | p.S113= | Synonymous | 2/7 | - | 1 |
| 1-182555603-A-G | c.339T>C | p.S113= | Synonymous | 2/7 | - | 2 |
| 1-182555603-A-T | c.339T>A | p.S113= | Synonymous | 2/7 | - | 1 |
| 1-182555604-G-A | c.338C>T | p.S113F | Missense | 2/7 | - | 3 |
| 1-182555604-G-C | c.338C>G | p.S113C | Missense | 2/7 | - | 4 |
| 1-182555605-A-G | c.337T>C | p.S113P | Missense | 2/7 | - | 1 |
| 1-182555608-G-A | c.334C>T | p.L112F | Missense | 2/7 | - | 1 |
| 1-182555609-G-A | c.333C>T | p.F111= | Synonymous | 2/7 | - | 4 |
| 1-182555613-A-G | c.329T>C | p.L110P | Missense | 2/7 | - | 1 |
| 1-182555615-T-A | c.327A>T | p.K109N | Missense | 2/7 | - | 1 |
| 1-182555615-T-G | c.327A>C | p.K109N | Missense | 2/7 | - | 2 |
| 1-182555618-C-A | c.324G>T | p.L108= | Synonymous | 2/7 | - | 1 |
| 1-182555618-C-G | c.324G>C | p.L108= | Synonymous | 2/7 | - | 1 |
| 1-182555618-C-T | c.324G>A | p.L108= | Synonymous | 2/7 | - | 1 |
| 1-182555620-G-A | c.322C>T | p.L108= | Synonymous | 2/7 | - | 1 |
| 1-182555627-C-T | c.315G>A | p.V105= | Synonymous | 2/7 | - | 1 |
| 1-182555629-C-A | c.313G>T | p.V105L | Missense | 2/7 | - | 1 |
| 1-182555629-C-T | c.313G>A | p.V105M | Missense | 2/7 | - | 7 |
| 1-182555630-G-A | c.312C>T | p.S104= | Synonymous | 2/7 | - | 3 |
| 1-182555632-CT-C | c.310del | p.S104Afs*2 | Frameshift | 2/7 | - | 1 |
| 1-182555636-C-T | c.306G>A | p.A102= | Synonymous | 2/7 | - | 2 |
| 1-182555637-G-A | c.305C>T | p.A102V | Missense | 2/7 | - | 9 |
| 1-182555640-A-C | c.302T>G | p.I101S | Missense | 2/7 | - | 1 |
| 1-182555640-A-G | c.302T>C | p.I101T | Missense | 2/7 | - | 6 |
| 1-182555642-C-T | c.300G>A | p.A100= | Synonymous | 2/7 | - | 1 |
| 1-182555643-G-C | c.299C>G | p.A100G | Missense | 2/7 | - | 1 |
| 1-182555646-G-T | c.296C>A | p.A99E | Missense | 2/7 | - | 1 |
| 1-182555647-C-T | c.295G>A | p.A99T | Missense | 2/7 | - | 3 |
| 1-182555648-G-T | c.294C>A | p.L98= | Synonymous | 2/7 | - | 1 |
| 1-182555650-G-A | c.292C>T | p.L98F | Missense | 2/7 | - | 4 |
| 1-182555650-G-T | c.292C>A | p.L98I | Missense | 2/7 | - | 2 |
| 1-182555651-G-A | c.291C>T | p.I97= | Synonymous | 2/7 | - | 2 |
| 1-182555651-G-T | c.291C>A | p.I97= | Synonymous | 2/7 | - | 1 |
| 1-182555652-A-T | c.290T>A | p.I97N | Missense | 2/7 | - | 1 |
| 1-182555653-T-C | c.289A>G | p.I97V | Missense | 2/7 | - | 8 |
| 1-182555653-T-G | c.289A>C | p.I97L | Missense | 2/7 | - | 21 |
| 1-182555654-A-G | c.288T>C | p.F96= | Synonymous | 2/7 | - | 1 |
| 1-182555655-A-G | c.287T>C | p.F96S | Missense | 2/7 | - | 2 |
| 1-182555656-A-T | c.286T>A | p.F96I | Missense | 2/7 | - | 1 |
| 1-182555658-G-A | c.284C>T | p.P95L | Missense | 2/7 | - | 1 |
| 1-182555660-C-A | c.282G>T | p.T94= | Synonymous | 2/7 | - | 4 |
| 1-182555660-C-G | c.282G>C | p.T94= | Synonymous | 2/7 | - | 4 |
| 1-182555660-C-T | c.282G>A | p.T94= | Synonymous | 2/7 | - | 6 |
| 1-182555661-G-A | c.281C>T | p.T94M | Missense | 2/7 | - | 2 |
| 1-182555661-G-C | c.281C>G | p.T94R | Missense | 2/7 | - | 1 |
| 1-182555667-C-T | c.275G>A | p.G92E | Missense | 2/7 | - | 1 |
| 1-182555668-C-G | c.274G>C | p.G92R | Missense | 2/7 | - | 1 |
| 1-182555670-T-C | c.272A>G | p.N91S | Missense | 2/7 | - | 3 |
| 1-182555669-AT-A | c.272del | p.N91Mfs*15 | Frameshift | 2/7 | - | 1 |
| 1-182555672-C-A | c.270G>T | p.K90N | Missense | 2/7 | - | 1 |
| 1-182555672-C-G | c.270G>C | p.K90N | Missense | 2/7 | - | 1 |
| 1-182555674-T-G | c.268A>C | p.K90Q | Missense | 2/7 | - | 1 |
| 1-182555676-TT-GC | c.265_266delinsGC | p.K89A | Missense | 2/7 | - | 1 |
| 1-182555677-T-C | c.265A>G | p.K89E | Missense | 2/7 | - | 2 |
| 1-182555680-T-C | c.262A>G | p.R88G | Missense | 2/7 | - | 1 |
| 1-182555685-A-G | c.257T>C | p.V86A | Missense | 2/7 | - | 1 |
| 1-182555686-C-G | c.256G>C | p.V86L | Missense | 2/7 | - | 1 |
| 1-182555687-A-C | c.255T>G | p.P85= | Synonymous | 2/7 | - | 2 |
| 1-182555687-A-G | c.255T>C | p.P85= | Synonymous | 2/7 | - | 3 |
| 1-182555687-A-T | c.255T>A | p.P85= | Synonymous | 2/7 | - | 2 |
| 1-182555688-G-A | c.254C>T | p.P85L | Missense | 2/7 | - | 2 |
| 1-182555688-G-T | c.254C>A | p.P85H | Missense | 2/7 | - | 1 |
| 1-182555689-G-A | c.253C>T | p.P85S | Missense | 2/7 | - | 1 |
| 1-182555692-C-A | c.250G>T | p.D84Y | Missense | 2/7 | - | 1 |
| 1-182555695-C-A | c.247G>T | p.A83S | Missense | 2/7 | - | 1 |
| 1-182555698-C-T | c.244G>A | p.G82S | Missense | 2/7 | - | 1 |
| 1-182555701-G-A | c.241C>T | p.H81Y | Missense | 2/7 | - | 3 |
| 1-182555703-C-T | c.239G>A | p.R80H | Missense | 2/7 | - | 3 |
| 1-182555704-G-A | c.238C>T | p.R80C | Missense | 2/7 | - | 6 |
| 1-182555704-G-C | c.238C>G | p.R80G | Missense | 2/7 | - | 1 |
| 1-182555708-C-A | c.234G>T | p.L78= | Synonymous | 2/7 | - | 1 |
| 1-182555708-C-G | c.234G>C | p.L78= | Synonymous | 2/7 | - | 1 |
| 1-182555708-C-T | c.234G>A | p.L78= | Synonymous | 2/7 | - | 1 |
| 1-182555710-G-A | c.232C>T | p.L78= | Synonymous | 2/7 | - | 1 |
| 1-182555709-A-G | c.233T>C | p.L78P | Missense | 2/7 | - | 5 |
| 1-182555715-T-A | c.227A>T | p.E76V | Missense | 2/7 | - | 1 |
| 1-182555716-C-A | c.226G>T | p.E76* | Nonsense | 2/7 | - | 1 |
| 1-182555721-A-G | c.221T>C | p.I74T | Missense | 2/7 | - | 1 |
| 1-182555729-C-A | c.213G>T | p.R71S | Missense | 2/7 | - | 1 |
| 1-182555729-C-G | c.213G>C | p.R71S | Missense | 2/7 | - | 1 |
| 1-182555730-C-T | c.212G>A | p.R71K | Missense | 2/7 | - | 1 |
| 1-182555734-T-G | c.208A>C | p.S70R | Missense | 2/7 | - | 1 |
| 1-182555735-C-T | c.207G>A | p.M69I | Missense | 2/7 | - | 2 |
| 1-182555739-T-C | c.203A>G | p.Q68R | Missense | 2/7 | - | 1 |
| 1-182555739-TG-GC | c.202_203delinsGC | p.Q68A | Missense | 2/7 | - | 1 |
| 1-182555746-C-T | c.196G>A | p.A66T | Missense | 2/7 | - | 4 |
| 1-182555747-G-A | c.195C>T | p.N65= | Synonymous | 2/7 | - | 5 |
| 1-182555747-G-T | c.195C>A | p.N65K | Missense | 2/7 | - | 2 |
| 1-182555749-T-A | c.193A>T | p.N65Y | Missense | 2/7 | - | 1 |
| 1-182555754-CA-C | c.188del | p.L63Rfs*7 | Frameshift | 2/7 | - | 1 |
| 1-182555757-G-A | c.185C>T | p.P62L | Missense | 2/7 | - | 2 |
| 1-182555758-G-A | c.184C>T | p.P62S | Missense | 2/7 | - | 4 |
| 1-182555762-C-T | c.180G>A | p.W60* | Nonsense | 2/7 | - | 1 |
| 1-182555763-C-T | c.179G>A | p.W60* | Nonsense | 2/7 | - | 1 |
| 1-182555766-C-A | c.176G>T | p.G59V | Missense | 2/7 | - | 1 |
| 1-182555766-CC-AA | c.175_176delinsTT | p.G59F | Missense | 2/7 | - | 1 |
| 1-182555766-C-G | c.176G>C | p.G59A | Missense | 2/7 | - | 1 |
| 1-182555766-C-T | c.176G>A | p.G59D | Missense | 2/7 | - | 3 |
| 1-182555767-C-T | c.175G>A | p.G59S | Missense | 2/7 | - | 24 |
| 1-182555765-GC-G | c.176del | p.G59Afs*11 | Frameshift | 2/7 | - | 1 |
| 1-182555774-C-A | c.168G>T | p.E56D | Missense | 2/7 | - | 1 |
| 1-182555783-G-C | c.159C>G | p.F53L | Missense | 2/7 | - | 1 |
| 1-182555783-G-T | c.159C>A | p.F53L | Missense | 2/7 | - | 1 |
| 1-182555785-A-G | c.157T>C | p.F53L | Missense | 2/7 | - | 1 |
| 1-182555786-A-G | c.156T>C | p.N52= | Synonymous | 2/7 | - | 1 |
| 1-182555791-C-CG | c.150_151insC | p.V51Rfs*2 | Frameshift | 2/7 | - | 1 |
| 1-182555793-T-C | c.149A>G | p.N50S | Missense | 2/7 | - | 1 |
| 1-182555794-T-C | c.148A>G | p.N50D | Missense | 2/7 | - | 1 |
| 1-182555796-G-A | c.146C>T | p.A49V | Missense | 2/7 | - | 1 |
| 1-182555797-C-T | c.145G>A | p.A49T | Missense | 2/7 | - | 1 |
| 1-182555799-C-T | c.143G>A | p.G48E | Missense | 2/7 | - | 1 |
| 1-182555803-C-T | c.139G>A | p.G47S | Missense | 2/7 | - | 1 |
| 1-182555805-T-C | c.137A>G | p.E46G | Missense | 2/7 | - | 1 |
| 1-182555806-C-G | c.136G>C | p.E46Q | Missense | 2/7 | - | 1 |
| 1-182555806-C-T | c.136G>A | p.E46K | Missense | 2/7 | - | 5 |
| 1-182555810-C-G | c.132G>C | p.L44F | Missense | 2/7 | - | 1 |
| 1-182555812-A-C | c.130T>G | p.L44V | Missense | 2/7 | - | 1 |
| 1-182555815-G-T | c.127C>A | p.Q43K | Missense | 2/7 | - | 1 |
| 1-182555816-C-A | c.126G>T | p.Q42H | Missense | 2/7 | - | 1 |
| 1-182555816-C-T | c.126G>A | p.Q42= | Synonymous | 2/7 | - | 1 |
| 1-182555819-G-A | c.123C>T | p.V41= | Synonymous | 2/7 | - | 2 |
| 1-182555819-G-C | c.123C>G | p.V41= | Synonymous | 2/7 | - | 1 |
| 1-182555819-G-T | c.123C>A | p.V41= | Synonymous | 2/7 | - | 1 |
| 1-182555823-A-C | c.119T>G | p.L40R | Missense | 2/7 | - | 1 |
| 1-182555825-G-T | c.117C>A | p.D39E | Missense | 2/7 | - | 1 |
| 1-182555827-C-A | c.115G>T | p.D39Y | Missense | 2/7 | - | 1 |
| 1-182555827-C-G | c.115G>C | p.D39H | Missense | 2/7 | - | 3 |
| 1-182555827-C-T | c.115G>A | p.D39N | Missense | 2/7 | - | 1 |
| 1-182555828-A-C | c.114T>G | p.V38= | Synonymous | 2/7 | - | 1 |
| 1-182555828-A-G | c.114T>C | p.V38= | Synonymous | 2/7 | - | 1 |
| 1-182555828-A-T | c.114T>A | p.V38= | Synonymous | 2/7 | - | 1 |
| 1-182555831-A-G | c.111T>C | p.D37= | Synonymous | 2/7 | - | 1 |
| 1-182555831-A-T | c.111T>A | p.D37E | Missense | 2/7 | - | 1 |
| 1-182555837-G-A | c.105C>T | p.N35= | Synonymous | 2/7 | - | 2 |
| 1-182555838-T-C | c.104A>G | p.N35S | Missense | 2/7 | - | 1 |
| 1-182555839-T-C | c.103A>G | p.N35D | Missense | 2/7 | - | 2 |
| 1-182555844-A-G | c.98T>C | p.V33A | Missense | 2/7 | - | 5 |
| 1-182555847-G-A | c.95C>T | p.A32V | Missense | 2/7 | - | 1 |
| 1-182555847-GC-AT | c.94_95delinsAT | p.A32I | Missense | 2/7 | - | 1 |
| 1-182555848-C-T | c.94G>A | p.A32T | Missense | 2/7 | - | 1 |
| 1-182555854-T-C | c.88A>G | p.I30V | Missense | 2/7 | - | 1 |
| 1-182555855-C-A | c.87G>T | p.L29= | Synonymous | 2/7 | - | 1 |
| 1-182555855-C-G | c.87G>C | p.L29= | Synonymous | 2/7 | - | 1 |
| 1-182555855-C-T | c.87G>A | p.L29= | Synonymous | 2/7 | - | 1 |
| 1-182555857-G-A | c.85C>T | p.L29= | Synonymous | 2/7 | - | 1 |
| 1-182555860-A-T | c.82T>A | p.L28M | Missense | 2/7 | - | 1 |
| 1-182555878-C-T | c.64G>A | p.A22T | Missense | 2/7 | - | 1 |
| 1-182555879-A-C | c.63T>G | p.A21= | Synonymous | 2/7 | - | 3 |
| 1-182555879-A-G | c.63T>C | p.A21= | Synonymous | 2/7 | - | 3 |
| 1-182555879-A-T | c.63T>A | p.A21= | Synonymous | 2/7 | - | 3 |
| 1-182555887-T-C | c.55A>G | p.R19G | Missense | 2/7 | - | 1 |
| 1-182555890-C-A | c.52G>T | p.G18C | Missense | 2/7 | - | 1 |
| 1-182555890-C-T | c.52G>A | p.G18S | Missense | 2/7 | - | 2 |
| 1-182555891-GCT-CTC | c.49_51delinsGAG | p.S17E | Missense | 2/7 | - | 1 |
| 1-182555892-CT-GG | c.49_50delinsCC | p.S17P | Missense | 2/7 | - | 1 |
| 1-182555893-T-C | c.49A>G | p.S17G | Missense | 2/7 | - | 1 |
| 1-182555895-GA-CG | c.46_47delinsCG | p.S16R | Missense | 2/7 | - | 1 |
| 1-182555898-G-A | c.44C>T | p.S15F | Missense | 2/7 | - | 2 |
| 1-182555900-C-A | c.42G>T | p.T14= | Synonymous | 2/7 | - | 1 |
| 1-182555900-C-G | c.42G>C | p.T14= | Synonymous | 2/7 | - | 1 |
| 1-182555900-C-T | c.42G>A | p.T14= | Synonymous | 2/7 | - | 1 |
| 1-182555901-G-A | c.41C>T | p.T14M | Missense | 2/7 | - | 7 |
| 1-182555903-G-A | c.39C>T | p.P13= | Synonymous | 2/7 | - | 1 |
| 1-182555903-G-C | c.39C>G | p.P13= | Synonymous | 2/7 | - | 1 |
| 1-182555903-G-T | c.39C>A | p.P13= | Synonymous | 2/7 | - | 1 |
| 1-182555906-TCC-ACA | c.34_36delinsTGT | p.G12C | Missense | 2/7 | - | 1 |
| 1-182555906-TC-GT | c.35_36delinsAC | p.G12D | Missense | 2/7 | - | 1 |
| 1-182555907-C-A | c.35G>T | p.G12V | Missense | 2/7 | - | 1 |
| 1-182555907-C-T | c.35G>A | p.G12E | Missense | 2/7 | - | 1 |
| 1-182555908-C-A | c.34G>T | p.G12* | Nonsense | 2/7 | - | 1 |
| 1-182555908-C-T | c.34G>A | p.G12R | Missense | 2/7 | - | 2 |
| 1-182555909-C-T | c.33G>A | p.E11= | Synonymous | 2/7 | - | 1 |
| 1-182555911-C-G | c.31G>C | p.E11Q | Missense | 2/7 | - | 1 |
| 1-182555914-G-T | c.28C>A | p.Q10K | Missense | 2/7 | - | 1 |
| 1-182555916-G-A | c.26C>T | p.P9L | Missense | 2/7 | - | 4 |
| 1-182555917-G-A | c.25C>T | p.P9S | Missense | 2/7 | - | 1 |
| 1-182555917-G-T | c.25C>A | p.P9T | Missense | 2/7 | - | 1 |
| 1-182555920-T-G | c.22A>C | p.N8H | Missense | 2/7 | - | 1 |
| 1-182555925-T-A | c.17A>T | p.H6L | Missense | 2/7 | - | 1 |
| 1-182555928-T-A | c.14A>T | p.D5V | Missense | 2/7 | - | 1 |
| 1-182555928-T-C | c.14A>G | p.D5G | Missense | 2/7 | - | 1 |
| 1-182555929-C-G | c.13G>C | p.D5H | Missense | 2/7 | - | 1 |
| 1-182555938-C-T | c.4G>A | p.E2K | Missense | 2/7 | - | 1 |
| 1-182555939-C-A | c.3G>T | p.M1? | Missense | 2/7 | - | 3 |
| 1-182555939-C-G | c.3G>C | p.M1? | Missense | 2/7 | - | 1 |
| 1-182555939-C-T | c.3G>A | p.M1? | Missense | 2/7 | - | 5 |
| 1-182555940-A-C | c.2T>G | p.M1? | Missense | 2/7 | - | 1 |
| 1-182555941-T-C | c.-165+165A>G | - | Missense | - | 1/6 | 1 |
| 1-182556036-A-G | c.-95T>C | - | 5-UTRSNV | 2/7 | - | 18 |
| 1-182556330-T-C | c.-164-225A>G | - | IntronicSNV | - | 1/6 | 1 |
| 1-182558139-G-T | c.-165+163C>A | - | intron_variant | - | 1/6 | 2 |