Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
11-64557034-A-C | c.2438T>G | p.L813R | Missense | 32/32 | - | 1 |
11-64557036-G-A | c.2436C>T | p.I812= | Synonymous | 32/32 | - | 1 |
11-64557036-G-T | c.2436C>A | p.I812= | Synonymous | 32/32 | - | 1 |
11-64557038-T-C | c.2434A>G | p.I812V | Missense | 32/32 | - | 1 |
11-64557041-A-C | c.2431T>G | p.Y811D | Missense | 32/32 | - | 1 |
11-64557049-C-T | c.2423G>A | p.S808N | Missense | 32/32 | - | 1 |
11-64557050-T-C | c.2422A>G | p.S808G | Missense | 32/32 | - | 1 |
11-64557051-G-C | c.2421C>G | p.H807Q | Missense | 32/32 | - | 1 |
11-64557051-G-T | c.2421C>A | p.H807Q | Missense | 32/32 | - | 1 |
11-64557054-C-A | c.2418G>T | p.A806= | Synonymous | 32/32 | - | 2 |
11-64557054-C-G | c.2418G>C | p.A806= | Synonymous | 32/32 | - | 2 |
11-64557054-C-T | c.2418G>A | p.A806= | Synonymous | 32/32 | - | 8 |
11-64557055-G-A | c.2417C>T | p.A806V | Missense | 32/32 | - | 2 |
11-64557083-C-T | c.2389G>A | p.E797K | Missense | 32/32 | - | 1 |
11-64557087-G-A | c.2385C>T | p.I795= | Synonymous | 32/32 | - | 1 |
11-64557090-G-A | c.2382C>T | p.I794= | Synonymous | 32/32 | - | 1 |
11-64557090-G-T | c.2382C>A | p.I794= | Synonymous | 32/32 | - | 1 |
11-64557095-C-A | c.2377G>T | p.D793Y | Missense | 32/32 | - | 1 |
11-64557132-C-A | c.2376-36G>T | - | IntronicSNV | - | 31/31 | 6 |
11-64557132-C-T | c.2376-36G>A | - | IntronicSNV | - | 31/31 | 6 |
11-64557211-C-G | c.2366G>C | p.G789A | Missense | 31/32 | - | 1 |
11-64557220-C-T | c.2357G>A | p.R786Q | Missense | 31/32 | - | 2 |
11-64557221-G-A | c.2356C>T | p.R786* | Nonsense | 31/32 | - | 2 |
11-64557229-C-T | c.2348G>A | p.R783K | Missense | 31/32 | - | 1 |
11-64557251-G-T | c.2326C>A | p.Q776K | Missense | 31/32 | - | 1 |
11-64557253-G-A | c.2324C>T | p.T775I | Missense | 31/32 | - | 1 |
11-64557256-A-G | c.2321T>C | p.V774A | Missense | 31/32 | - | 1 |
11-64557359-A-G | c.2319+2T>C | - | IntronicSNV | - | 30/31 | 1 |
11-64557365-T-C | c.2315A>G | p.N772S | Missense | 30/32 | - | 1 |
11-64557373-C-T | c.2307G>A | p.L769= | Synonymous | 30/32 | - | 1 |
11-64557383-C-T | c.2297G>A | p.G766D | Missense | 30/32 | - | 1 |
11-64557388-C-G | c.2292G>C | p.M764I | Missense | 30/32 | - | 1 |
11-64557391-C-A | c.2289G>T | p.G763= | Synonymous | 30/32 | - | 1 |
11-64557394-A-G | c.2286T>C | p.H762= | Synonymous | 30/32 | - | 1 |
11-64557400-C-A | c.2280G>T | p.W760C | Missense | 30/32 | - | 1 |
11-64557400-C-T | c.2280G>A | p.W760* | Nonsense | 30/32 | - | 1 |
11-64557406-G-A | c.2274C>T | p.A758= | Synonymous | 30/32 | - | 1 |
11-64557412-C-A | c.2268G>T | p.V756= | Synonymous | 30/32 | - | 1 |
11-64557414-C-A | c.2266G>T | p.V756L | Missense | 30/32 | - | 1 |
11-64557414-C-G | c.2266G>C | p.V756L | Missense | 30/32 | - | 1 |
11-64557417-T-A | c.2263A>T | p.S755C | Missense | 30/32 | - | 2 |
11-64557419-T-C | c.2261A>G | p.D754G | Missense | 30/32 | - | 1 |
11-64557426-G-A | c.2254C>T | p.L752= | Synonymous | 30/32 | - | 1 |
11-64557660-C-A | c.2248G>T | p.V750L | Missense | 29/32 | - | 1 |
11-64557669-C-G | c.2239G>C | p.E747Q | Missense | 29/32 | - | 1 |
11-64557669-C-T | c.2239G>A | p.E747K | Missense | 29/32 | - | 1 |
11-64557670-G-A | c.2238C>T | p.I746= | Synonymous | 29/32 | - | 3 |
11-64557670-G-T | c.2238C>A | p.I746= | Synonymous | 29/32 | - | 2 |
11-64557672-T-C | c.2236A>G | p.I746V | Missense | 29/32 | - | 1 |
11-64557689-A-G | c.2219T>C | p.L740P | Missense | 29/32 | - | 1 |
11-64557689-A-T | c.2219T>A | p.L740Q | Missense | 29/32 | - | 1 |
11-64557690-G-T | c.2218C>A | p.L740M | Missense | 29/32 | - | 1 |
11-64557695-G-T | c.2213C>A | p.P738H | Missense | 29/32 | - | 1 |
11-64557698-G-A | c.2210C>T | p.A737V | Missense | 29/32 | - | 1 |
11-64557701-A-G | c.2207T>C | p.L736P | Missense | 29/32 | - | 1 |
11-64557707-G-A | c.2201C>T | p.A734V | Missense | 29/32 | - | 1 |
11-64557715-C-A | c.2193G>T | p.E731D | Missense | 29/32 | - | 1 |
11-64557715-C-G | c.2193G>C | p.E731D | Missense | 29/32 | - | 1 |
11-64557716-T-A | c.2192A>T | p.E731V | Missense | 29/32 | - | 1 |
11-64557718-G-A | c.2190C>T | p.G730= | Synonymous | 29/32 | - | 1 |
11-64557718-G-C | c.2190C>G | p.G730= | Synonymous | 29/32 | - | 1 |
11-64557718-G-T | c.2190C>A | p.G730= | Synonymous | 29/32 | - | 1 |
11-64557720-C-T | c.2188G>A | p.G730S | Missense | 29/32 | - | 1 |
11-64557725-A-G | c.2183T>C | p.M728T | Missense | 29/32 | - | 2 |
11-64557736-C-T | c.2172G>A | p.R724= | Synonymous | 29/32 | - | 1 |
11-64557738-T-G | c.2170A>C | p.R724= | Synonymous | 29/32 | - | 1 |
11-64557861-C-T | c.2161+5G>A | - | IntronicSNV | - | 28/31 | 1 |
11-64557865-C-T | c.2161+1G>A | - | IntronicSNV | - | 28/31 | 1 |
11-64557869-C-T | c.2158G>A | p.E720K | Missense | 28/32 | - | 1 |
11-64557879-T-A | c.2148A>T | p.L716= | Synonymous | 28/32 | - | 1 |
11-64557879-T-C | c.2148A>G | p.L716= | Synonymous | 28/32 | - | 1 |
11-64557879-T-G | c.2148A>C | p.L716= | Synonymous | 28/32 | - | 1 |
11-64557881-G-A | c.2146C>T | p.L716= | Synonymous | 28/32 | - | 2 |
11-64557881-G-C | c.2146C>G | p.L716V | Missense | 28/32 | - | 2 |
11-64557882-G-A | c.2145C>T | p.I715= | Synonymous | 28/32 | - | 2 |
11-64557887-T-A | c.2140A>T | p.T714S | Missense | 28/32 | - | 1 |
11-64557890-C-G | c.2137G>C | p.D713H | Missense | 28/32 | - | 1 |
11-64557896-C-T | c.2131G>A | p.D711N | Missense | 28/32 | - | 1 |
11-64557903-G-C | c.2124C>G | p.I708M | Missense | 28/32 | - | 1 |
11-64557906-CAC-GAT | c.2119_2121delinsATC | p.V707I | Missense | 28/32 | - | 1 |
11-64557908-C-A | c.2119G>T | p.V707L | Missense | 28/32 | - | 1 |
11-64557908-C-G | c.2119G>C | p.V707L | Missense | 28/32 | - | 1 |
11-64557914-G-A | c.2113C>T | p.Q705* | Nonsense | 28/32 | - | 1 |
11-64557915-G-A | c.2112C>T | p.A704= | Synonymous | 28/32 | - | 2 |
11-64557919-G-A | c.2108C>T | p.S703L | Missense | 28/32 | - | 2 |
11-64557930-C-A | c.2097G>T | p.G699= | Synonymous | 28/32 | - | 1 |
11-64557930-C-G | c.2097G>C | p.G699= | Synonymous | 28/32 | - | 1 |
11-64557930-C-T | c.2097G>A | p.G699= | Synonymous | 28/32 | - | 1 |
11-64557933-C-A | c.2094G>T | p.E698D | Missense | 28/32 | - | 1 |
11-64557933-C-G | c.2094G>C | p.E698D | Missense | 28/32 | - | 1 |
11-64559381-C-G | c.2092G>C | p.E698Q | Missense | 27/32 | - | 1 |
11-64559382-A-C | c.2091T>G | p.P697= | Synonymous | 27/32 | - | 1 |
11-64559382-A-G | c.2091T>C | p.P697= | Synonymous | 27/32 | - | 1 |
11-64559382-A-T | c.2091T>A | p.P697= | Synonymous | 27/32 | - | 1 |
11-64559384-G-T | c.2089C>A | p.P697T | Missense | 27/32 | - | 1 |
11-64559391-G-A | c.2082C>T | p.L694= | Synonymous | 27/32 | - | 2 |
11-64559393-G-A | c.2080C>T | p.L694F | Missense | 27/32 | - | 1 |
11-64559399-C-T | c.2074G>A | p.D692N | Missense | 27/32 | - | 1 |
11-64559403-C-A | c.2070G>T | p.T690= | Synonymous | 27/32 | - | 1 |
11-64559403-C-G | c.2070G>C | p.T690= | Synonymous | 27/32 | - | 1 |
11-64559403-C-T | c.2070G>A | p.T690= | Synonymous | 27/32 | - | 2 |
11-64559404-G-A | c.2069C>T | p.T690M | Missense | 27/32 | - | 1 |
11-64559414-C-T | c.2059G>A | p.A687T | Missense | 27/32 | - | 1 |
11-64559429-C-T | c.2044G>A | p.V682I | Missense | 27/32 | - | 1 |
11-64559438-G-A | c.2035C>T | p.L679= | Synonymous | 27/32 | - | 2 |
11-64559442-G-A | c.2031C>T | p.R677= | Synonymous | 27/32 | - | 1 |
11-64559443-C-T | c.2030G>A | p.R677H | Missense | 27/32 | - | 3 |
11-64559444-G-A | c.2029C>T | p.R677C | Missense | 27/32 | - | 4 |
11-64559445-G-A | c.2028C>T | p.C676= | Synonymous | 27/32 | - | 3 |
11-64559446-CA-GT | c.2026_2027delinsAC | p.C676T | Missense | 27/32 | - | 1 |
11-64559446-C-CT | c.2026_2027insA | p.C676* | Nonsense | 27/32 | - | 1 |
11-64559447-A-G | c.2026T>C | p.C676R | Missense | 27/32 | - | 2 |
11-64559451-GGGCCCCTCA-G | c.2013_2021del | p.E672_P674del | InFrameDeletion | 27/32 | - | 1 |
11-64559473-C-G | c.2000G>C | p.G667A | Missense | 27/32 | - | 1 |
11-64559474-C-CAG | c.1998_1999insCT | p.G667Lfs*24 | Frameshift | 27/32 | - | 1 |
11-64559485-T-C | c.1988A>G | p.Q663R | Missense | 27/32 | - | 1 |
11-64559486-G-A | c.1987C>T | p.Q663* | Nonsense | 27/32 | - | 1 |
11-64559487-C-A | c.1986G>T | p.P662= | Synonymous | 27/32 | - | 2 |
11-64559487-C-G | c.1986G>C | p.P662= | Synonymous | 27/32 | - | 2 |
11-64559487-C-T | c.1986G>A | p.P662= | Synonymous | 27/32 | - | 3 |
11-64559488-G-A | c.1985C>T | p.P662L | Missense | 27/32 | - | 1 |
11-64559489-G-A | c.1984C>T | p.P662S | Missense | 27/32 | - | 1 |
11-64559490-C-A | c.1983G>T | p.L661= | Synonymous | 27/32 | - | 1 |
11-64559490-C-G | c.1983G>C | p.L661= | Synonymous | 27/32 | - | 1 |
11-64559490-C-T | c.1983G>A | p.L661= | Synonymous | 27/32 | - | 1 |
11-64559492-G-A | c.1981C>T | p.L661= | Synonymous | 27/32 | - | 1 |
11-64559504-C-T | c.1969G>A | p.D657N | Missense | 27/32 | - | 1 |
11-64559515-G-A | c.1958C>T | p.P653L | Missense | 27/32 | - | 4 |
11-64559517-C-A | c.1956G>T | p.E652D | Missense | 27/32 | - | 1 |
11-64559517-C-G | c.1956G>C | p.E652D | Missense | 27/32 | - | 1 |
11-64559538-G-A | c.1935C>T | p.P645= | Synonymous | 27/32 | - | 1 |
11-64559538-G-C | c.1935C>G | p.P645= | Synonymous | 27/32 | - | 1 |
11-64559538-G-T | c.1935C>A | p.P645= | Synonymous | 27/32 | - | 1 |
11-64559541-C-T | c.1932G>A | p.L644= | Synonymous | 27/32 | - | 1 |
11-64559547-G-A | c.1926C>T | p.S642= | Synonymous | 27/32 | - | 1 |
11-64559551-GA-TT | c.1921_1922delinsAA | p.S641N | Missense | 27/32 | - | 1 |
11-64559553-G-T | c.1920C>A | p.F640L | Missense | 27/32 | - | 1 |
11-64559558-T-C | c.1915A>G | p.N639D | Missense | 27/32 | - | 1 |
11-64559644-C-T | c.1914G>A | p.K638= | Synonymous | 26/32 | - | 1 |
11-64559647-C-A | c.1911G>T | p.L637= | Synonymous | 26/32 | - | 1 |
11-64559652-G-C | c.1906C>G | p.L636V | Missense | 26/32 | - | 1 |
11-64559669-G-A | c.1889C>T | p.P630L | Missense | 26/32 | - | 1 |
11-64559682-G-C | c.1876C>G | p.Q626E | Missense | 26/32 | - | 1 |
11-64559683-C-A | c.1875G>T | p.L625= | Synonymous | 26/32 | - | 1 |
11-64559683-C-G | c.1875G>C | p.L625= | Synonymous | 26/32 | - | 1 |
11-64559683-C-T | c.1875G>A | p.L625= | Synonymous | 26/32 | - | 1 |
11-64559685-G-A | c.1873C>T | p.L625= | Synonymous | 26/32 | - | 2 |
11-64559696-C-G | c.1862G>C | p.S621T | Missense | 26/32 | - | 1 |
11-64559704-C-A | c.1854G>T | p.L618= | Synonymous | 26/32 | - | 1 |
11-64559704-C-G | c.1854G>C | p.L618= | Synonymous | 26/32 | - | 1 |
11-64559704-C-T | c.1854G>A | p.L618= | Synonymous | 26/32 | - | 2 |
11-64559706-G-A | c.1852C>T | p.L618= | Synonymous | 26/32 | - | 1 |
11-64559706-G-T | c.1852C>A | p.L618M | Missense | 26/32 | - | 1 |
11-64559730-C-T | c.1828G>A | p.G610S | Missense | 26/32 | - | 1 |
11-64559739-G-A | c.1819C>T | p.P607S | Missense | 26/32 | - | 5 |
11-64559744-C-A | c.1814G>T | p.R605L | Missense | 26/32 | - | 1 |
11-64559744-C-T | c.1814G>A | p.R605Q | Missense | 26/32 | - | 1 |
11-64559745-G-A | c.1813C>T | p.R605W | Missense | 26/32 | - | 1 |
11-64559791-G-GC | c.1810+44dup | - | IntronicInsertion | - | 25/31 | 1 |
11-64559808-G-C | c.1810+28C>G | - | IntronicSNV | - | 25/31 | 2 |
11-64559813-A-C | c.1810+23T>G | - | IntronicSNV | - | 25/31 | 3 |
11-64559818-G-C | c.1810+18C>G | - | IntronicSNV | - | 25/31 | 3 |
11-64559822-A-C | c.1810+14T>G | - | IntronicSNV | - | 25/31 | 2 |
11-64559823-G-C | c.1810+13C>G | - | IntronicSNV | - | 25/31 | 2 |
11-64559827-A-C | c.1810+9T>G | - | IntronicSNV | - | 25/31 | 2 |
11-64559831-C-T | c.1810+5G>A | - | IntronicSNV | - | 25/31 | 1 |
11-64559838-A-C | c.1808T>G | p.V603G | Missense | 25/32 | - | 1 |
11-64559842-G-A | c.1804C>T | p.R602C | Missense | 25/32 | - | 1 |
11-64559846-C-A | c.1800G>T | p.Q600H | Missense | 25/32 | - | 1 |
11-64559846-C-G | c.1800G>C | p.Q600H | Missense | 25/32 | - | 1 |
11-64559852-G-A | c.1794C>T | p.C598= | Synonymous | 25/32 | - | 1 |
11-64559856-C-G | c.1790G>C | p.G597A | Missense | 25/32 | - | 1 |
11-64559857-C-A | c.1789G>T | p.G597C | Missense | 25/32 | - | 1 |
11-64559868-G-A | c.1778C>T | p.P593L | Missense | 25/32 | - | 1 |
11-64559868-G-C | c.1778C>G | p.P593R | Missense | 25/32 | - | 1 |
11-64559883-AG-GA | c.1762_1763delinsTC | p.L588S | Missense | 25/32 | - | 1 |
11-64559892-C-A | c.1754G>T | p.R585L | Missense | 25/32 | - | 1 |
11-64559898-T-C | c.1752-4A>G | - | IntronicSNV | - | 24/31 | 16 |
11-64560688-C-CAA | c.1752-796_1752-795dup | - | IntronicInsertion | - | 24/31 | 1 |
11-64560688-C-CA | c.1752-795dup | - | IntronicInsertion | - | 24/31 | 1 |
11-64563358-G-A | c.1751+387C>T | - | IntronicSNV | - | 24/31 | 1 |
11-64563739-C-G | c.1751+6G>C | - | IntronicSNV | - | 24/31 | 1 |
11-64563743-A-G | c.1751+2T>C | - | IntronicSNV | - | 24/31 | 1 |
11-64563755-T-C | c.1741A>G | p.I581V | Missense | 24/32 | - | 1 |
11-64563757-C-A | c.1739G>T | p.R580L | Missense | 24/32 | - | 1 |
11-64563757-C-T | c.1739G>A | p.R580H | Missense | 24/32 | - | 9 |
11-64563759-C-T | c.1737G>A | p.Q579= | Synonymous | 24/32 | - | 1 |
11-64563761-G-T | c.1735C>A | p.Q579K | Missense | 24/32 | - | 3 |
11-64563765-G-A | c.1731C>T | p.L577= | Synonymous | 24/32 | - | 2 |
11-64563777-G-A | c.1719C>T | p.P573= | Synonymous | 24/32 | - | 2 |
11-64563777-G-C | c.1719C>G | p.P573= | Synonymous | 24/32 | - | 1 |
11-64563777-G-T | c.1719C>A | p.P573= | Synonymous | 24/32 | - | 1 |
11-64563780-G-A | c.1716C>T | p.I572= | Synonymous | 24/32 | - | 2 |
11-64563791-G-A | c.1705C>T | p.P569S | Missense | 24/32 | - | 1 |
11-64563797-G-A | c.1699C>T | p.Q567* | Nonsense | 24/32 | - | 1 |
11-64563804-T-A | c.1692A>T | p.L564= | Synonymous | 24/32 | - | 2 |
11-64563804-T-C | c.1692A>G | p.L564= | Synonymous | 24/32 | - | 3 |
11-64563804-T-G | c.1692A>C | p.L564= | Synonymous | 24/32 | - | 2 |
11-64563806-G-A | c.1690C>T | p.L564= | Synonymous | 24/32 | - | 2 |
11-64563811-C-A | c.1685G>T | p.R562L | Missense | 24/32 | - | 1 |
11-64563811-C-T | c.1685G>A | p.R562Q | Missense | 24/32 | - | 1 |
11-64563810-C-A | c.1686G>T | p.R562= | Synonymous | 24/32 | - | 1 |
11-64563810-C-G | c.1686G>C | p.R562= | Synonymous | 24/32 | - | 1 |
11-64563810-C-T | c.1686G>A | p.R562= | Synonymous | 24/32 | - | 1 |
11-64563812-G-T | c.1684C>A | p.R562= | Synonymous | 24/32 | - | 1 |
11-64563813-C-T | c.1683G>A | p.Q561= | Synonymous | 24/32 | - | 1 |
11-64563816-C-T | c.1680G>A | p.E560= | Synonymous | 24/32 | - | 1 |
11-64563827-C-A | c.1669G>T | p.G557C | Missense | 24/32 | - | 2 |
11-64563845-A-G | c.1651T>C | p.W551R | Missense | 24/32 | - | 1 |
11-64563845-A-T | c.1651T>A | p.W551R | Missense | 24/32 | - | 1 |
11-64563852-C-A | c.1644G>T | p.T548= | Synonymous | 24/32 | - | 2 |
11-64563852-C-G | c.1644G>C | p.T548= | Synonymous | 24/32 | - | 1 |
11-64563852-CG-GA | c.1643_1644delinsTC | p.T548I | Missense | 24/32 | - | 1 |
11-64563852-C-T | c.1644G>A | p.T548= | Synonymous | 24/32 | - | 3 |
11-64563855-G-A | c.1641C>T | p.S547= | Synonymous | 24/32 | - | 1 |
11-64563860-T-C | c.1636A>G | p.K546E | Missense | 24/32 | - | 5 |
11-64563934-A-G | c.1633+31T>C | - | IntronicSNV | - | 23/31 | 9 |
11-64563934-A-T | c.1633+31T>A | - | IntronicSNV | - | 23/31 | 7 |
11-64563974-A-C | c.1624T>G | p.S542A | Missense | 23/32 | - | 1 |
11-64563977-G-T | c.1621C>A | p.L541M | Missense | 23/32 | - | 1 |
11-64563979-A-T | c.1619T>A | p.L540Q | Missense | 23/32 | - | 1 |
11-64563984-G-A | c.1614C>T | p.N538= | Synonymous | 23/32 | - | 1 |
11-64563984-GT-G | c.1613del | p.N538Tfs*100 | Frameshift | 23/32 | - | 1 |
11-64563988-T-C | c.1610A>G | p.N537S | Missense | 23/32 | - | 1 |
11-64563988-T-G | c.1610A>C | p.N537T | Missense | 23/32 | - | 1 |
11-64563990-C-T | c.1608G>A | p.V536= | Synonymous | 23/32 | - | 1 |
11-64563991-A-T | c.1607T>A | p.V536E | Missense | 23/32 | - | 1 |
11-64563992-C-T | c.1606G>A | p.V536M | Missense | 23/32 | - | 2 |
11-64564000-A-G | c.1598T>C | p.L533P | Missense | 23/32 | - | 1 |
11-64564003-C-A | c.1595G>T | p.W532L | Missense | 23/32 | - | 3 |
11-64564012-C-T | c.1586G>A | p.R529H | Missense | 23/32 | - | 1 |
11-64564013-G-A | c.1585C>T | p.R529C | Missense | 23/32 | - | 1 |
11-64564014-A-G | c.1584T>C | p.H528= | Synonymous | 23/32 | - | 1 |
11-64564110-T-C | c.1568A>G | p.E523G | Missense | 22/32 | - | 1 |
11-64564126-G-A | c.1552C>T | p.H518Y | Missense | 22/32 | - | 1 |
11-64564132-C-A | c.1546G>T | p.E516* | Nonsense | 22/32 | - | 1 |
11-64564142-G-A | c.1536C>T | p.L512= | Synonymous | 22/32 | - | 1 |
11-64564142-G-C | c.1536C>G | p.L512= | Synonymous | 22/32 | - | 1 |
11-64564142-G-T | c.1536C>A | p.L512= | Synonymous | 22/32 | - | 1 |
11-64564153-T-A | c.1525A>T | p.I509F | Missense | 22/32 | - | 1 |
11-64564162-C-T | c.1516G>A | p.E506K | Missense | 22/32 | - | 1 |
11-64564163-G-A | c.1515C>T | p.A505= | Synonymous | 22/32 | - | 1 |
11-64564163-G-C | c.1515C>G | p.A505= | Synonymous | 22/32 | - | 1 |
11-64564163-G-T | c.1515C>A | p.A505= | Synonymous | 22/32 | - | 1 |
11-64564171-C-T | c.1507G>A | p.V503I | Missense | 22/32 | - | 1 |
11-64564173-AC-A | c.1504del | p.V502Wfs*2 | Frameshift | 22/32 | - | 1 |
11-64564177-G-C | c.1501C>G | p.L501V | Missense | 22/32 | - | 1 |
11-64564183-G-A | c.1495C>T | p.Q499* | Nonsense | 22/32 | - | 1 |
11-64564208-A-G | c.1493-23T>C | - | IntronicSNV | - | 21/31 | 7 |
11-64564282-C-A | c.1491G>T | p.R497= | Synonymous | 21/32 | - | 1 |
11-64564282-C-G | c.1491G>C | p.R497= | Synonymous | 21/32 | - | 1 |
11-64564282-C-T | c.1491G>A | p.R497= | Synonymous | 21/32 | - | 1 |
11-64564284-G-A | c.1489C>T | p.R497W | Missense | 21/32 | - | 1 |
11-64564284-G-T | c.1489C>A | p.R497= | Synonymous | 21/32 | - | 1 |
11-64564292-G-A | c.1481C>T | p.P494L | Missense | 21/32 | - | 1 |
11-64564293-G-A | c.1480C>T | p.P494S | Missense | 21/32 | - | 1 |
11-64564297-A-G | c.1476T>C | p.I492= | Synonymous | 21/32 | - | 1 |
11-64564297-A-T | c.1476T>A | p.I492= | Synonymous | 21/32 | - | 1 |
11-64564311-C-A | c.1462G>T | p.A488S | Missense | 21/32 | - | 1 |
11-64564311-C-T | c.1462G>A | p.A488T | Missense | 21/32 | - | 2 |
11-64564314-C-T | c.1459G>A | p.A487T | Missense | 21/32 | - | 1 |
11-64564315-G-A | c.1458C>T | p.H486= | Synonymous | 21/32 | - | 1 |
11-64564321-CC-AT | c.1451_1452delinsAT | p.R484H | Missense | 21/32 | - | 1 |
11-64564321-CCG-ACA | c.1450_1452delinsTGT | p.R484C | Missense | 21/32 | - | 1 |
11-64564322-C-T | c.1451G>A | p.R484Q | Missense | 21/32 | - | 1 |
11-64564323-G-A | c.1450C>T | p.R484W | Missense | 21/32 | - | 2 |
11-64564326-G-A | c.1447C>T | p.L483= | Synonymous | 21/32 | - | 2 |
11-64564330-G-A | c.1443C>T | p.C481= | Synonymous | 21/32 | - | 1 |
11-64564332-A-G | c.1441T>C | p.C481R | Missense | 21/32 | - | 1 |
11-64564335-C-A | c.1438G>T | p.G480C | Missense | 21/32 | - | 1 |
11-64564335-C-G | c.1438G>C | p.G480R | Missense | 21/32 | - | 1 |
11-64564355-C-T | c.1418G>A | p.C473Y | Missense | 21/32 | - | 1 |
11-64564358-G-A | c.1415C>T | p.A472V | Missense | 21/32 | - | 1 |
11-64564456-G-T | c.1405C>A | p.H469N | Missense | 20/32 | - | 2 |
11-64564461-T-C | c.1400A>G | p.K467R | Missense | 20/32 | - | 1 |
11-64564467-G-GT | c.1393dup | p.T465Nfs*52 | Frameshift | 20/32 | - | 2 |
11-64564471-G-C | c.1390C>G | p.P464A | Missense | 20/32 | - | 1 |
11-64564471-G-T | c.1390C>A | p.P464T | Missense | 20/32 | - | 2 |
11-64564475-G-A | c.1386C>T | p.L462= | Synonymous | 20/32 | - | 1 |
11-64564475-G-C | c.1386C>G | p.L462= | Synonymous | 20/32 | - | 1 |
11-64564475-G-T | c.1386C>A | p.L462= | Synonymous | 20/32 | - | 1 |
11-64564477-G-T | c.1384C>A | p.L462I | Missense | 20/32 | - | 1 |
11-64564480-C-G | c.1381G>C | p.G461R | Missense | 20/32 | - | 1 |
11-64564480-C-T | c.1381G>A | p.G461R | Missense | 20/32 | - | 2 |
11-64564481-G-A | c.1380C>T | p.H460= | Synonymous | 20/32 | - | 2 |
11-64564487-G-C | c.1374C>G | p.S458= | Synonymous | 20/32 | - | 1 |
11-64564491-G-A | c.1370C>T | p.S457L | Missense | 20/32 | - | 2 |
11-64564492-A-G | c.1369T>C | p.S457P | Missense | 20/32 | - | 1 |
11-64564541-G-A | c.1365+35C>T | - | IntronicSNV | - | 19/31 | 1 |
11-64564569-C-T | c.1365+7G>A | - | IntronicSNV | - | 19/31 | 1 |
11-64564575-C-T | c.1365+1G>A | - | IntronicSNV | - | 19/31 | 1 |
11-64564578-C-T | c.1363G>A | p.E455K | Missense | 19/32 | - | 2 |
11-64564583-T-C | c.1358A>G | p.D453G | Missense | 19/32 | - | 1 |
11-64564589-C-G | c.1352G>C | p.R451P | Missense | 19/32 | - | 1 |
11-64564589-C-T | c.1352G>A | p.R451Q | Missense | 19/32 | - | 1 |
11-64564603-G-A | c.1338C>T | p.A446= | Synonymous | 19/32 | - | 1 |
11-64564611-C-A | c.1330G>T | p.A444S | Missense | 19/32 | - | 1 |
11-64564613-G-A | c.1328C>T | p.T443M | Missense | 19/32 | - | 7 |
11-64564616-G-T | c.1325C>A | p.P442H | Missense | 19/32 | - | 2 |
11-64564618-C-A | c.1323G>T | p.L441= | Synonymous | 19/32 | - | 1 |
11-64564618-C-G | c.1323G>C | p.L441= | Synonymous | 19/32 | - | 1 |
11-64564618-C-T | c.1323G>A | p.L441= | Synonymous | 19/32 | - | 1 |
11-64564620-G-A | c.1321C>T | p.L441= | Synonymous | 19/32 | - | 1 |
11-64564621-C-T | c.1320G>A | p.L440= | Synonymous | 19/32 | - | 1 |
11-64564625-G-A | c.1316C>T | p.P439L | Missense | 19/32 | - | 1 |
11-64564627-G-A | c.1314C>T | p.S438= | Synonymous | 19/32 | - | 2 |
11-64564627-G-T | c.1314C>A | p.S438= | Synonymous | 19/32 | - | 2 |
11-64564630-G-C | c.1311C>G | p.S437R | Missense | 19/32 | - | 1 |
11-64564630-G-T | c.1311C>A | p.S437R | Missense | 19/32 | - | 1 |
11-64564632-T-G | c.1309A>C | p.S437R | Missense | 19/32 | - | 1 |
11-64564631-C-T | c.1310G>A | p.S437N | Missense | 19/32 | - | 1 |
11-64564637-G-T | c.1304C>A | p.P435H | Missense | 19/32 | - | 1 |
11-64564638-G-A | c.1303C>T | p.P435S | Missense | 19/32 | - | 2 |
11-64564638-G-C | c.1303C>G | p.P435A | Missense | 19/32 | - | 1 |
11-64564641-C-A | c.1300G>T | p.G434C | Missense | 19/32 | - | 1 |
11-64564643-G-A | c.1298C>T | p.S433L | Missense | 19/32 | - | 2 |
11-64564643-G-C | c.1298C>G | p.S433* | Nonsense | 19/32 | - | 1 |
11-64564643-G-T | c.1298C>A | p.S433* | Nonsense | 19/32 | - | 1 |
11-64564646-G-A | c.1295C>T | p.P432L | Missense | 19/32 | - | 1 |
11-64564646-GG-AA | c.1294_1295delinsTT | p.P432F | Missense | 19/32 | - | 1 |
11-64564649-G-A | c.1292C>T | p.P431L | Missense | 19/32 | - | 1 |
11-64564660-G-A | c.1281C>T | p.T427= | Synonymous | 19/32 | - | 2 |
11-64564660-G-C | c.1281C>G | p.T427= | Synonymous | 19/32 | - | 2 |
11-64564660-G-T | c.1281C>A | p.T427= | Synonymous | 19/32 | - | 2 |
11-64564661-G-A | c.1280C>T | p.T427I | Missense | 19/32 | - | 1 |
11-64564706-A-T | c.1276+41T>A | - | IntronicSNV | - | 18/31 | 1 |
11-64564750-G-A | c.1273C>T | p.P425S | Missense | 18/32 | - | 2 |
11-64564752-G-A | c.1271C>T | p.P424L | Missense | 18/32 | - | 2 |
11-64564754-A-G | c.1269T>C | p.S423= | Synonymous | 18/32 | - | 1 |
11-64564769-C-T | c.1254G>A | p.E418= | Synonymous | 18/32 | - | 1 |
11-64564771-C-T | c.1252G>A | p.E418K | Missense | 18/32 | - | 1 |
11-64564774-C-A | c.1249G>T | p.A417S | Missense | 18/32 | - | 1 |
11-64564779-G-A | c.1244C>T | p.P415L | Missense | 18/32 | - | 1 |
11-64564791-A-G | c.1232T>C | p.L411P | Missense | 18/32 | - | 1 |
11-64564792-G-T | c.1231C>A | p.L411I | Missense | 18/32 | - | 1 |
11-64564797-C-G | c.1226G>C | p.G409A | Missense | 18/32 | - | 1 |
11-64564802-G-C | c.1221C>G | p.F407L | Missense | 18/32 | - | 1 |
11-64564805-C-A | c.1218G>T | p.P406= | Synonymous | 18/32 | - | 2 |
11-64564805-C-G | c.1218G>C | p.P406= | Synonymous | 18/32 | - | 2 |
11-64564805-C-T | c.1218G>A | p.P406= | Synonymous | 18/32 | - | 3 |
11-64564806-G-T | c.1217C>A | p.P406Q | Missense | 18/32 | - | 1 |
11-64564810-C-T | c.1213G>A | p.A405T | Missense | 18/32 | - | 2 |
11-64564817-G-A | c.1206C>T | p.I402= | Synonymous | 18/32 | - | 1 |
11-64564817-G-T | c.1206C>A | p.I402= | Synonymous | 18/32 | - | 1 |
11-64564830-G-A | c.1193C>T | p.T398I | Missense | 18/32 | - | 3 |
11-64564834-C-T | c.1189G>A | p.D397N | Missense | 18/32 | - | 1 |
11-64564841-G-A | c.1182C>T | p.S394= | Synonymous | 18/32 | - | 1 |
11-64564841-G-C | c.1182C>G | p.S394= | Synonymous | 18/32 | - | 1 |
11-64564841-G-T | c.1182C>A | p.S394= | Synonymous | 18/32 | - | 2 |
11-64564842-G-A | c.1181C>T | p.S394F | Missense | 18/32 | - | 2 |
11-64564843-A-G | c.1180T>C | p.S394P | Missense | 18/32 | - | 1 |
11-64564985-GG-CT | c.1157_1158delinsAG | p.A386E | Missense | 17/32 | - | 1 |
11-64564989-G-A | c.1154C>T | p.S385L | Missense | 17/32 | - | 1 |
11-64564991-C-A | c.1152G>T | p.R384= | Synonymous | 17/32 | - | 1 |
11-64564991-C-G | c.1152G>C | p.R384= | Synonymous | 17/32 | - | 1 |
11-64564991-C-T | c.1152G>A | p.R384= | Synonymous | 17/32 | - | 1 |
11-64564993-G-A | c.1150C>T | p.R384W | Missense | 17/32 | - | 1 |
11-64564993-G-T | c.1150C>A | p.R384= | Synonymous | 17/32 | - | 2 |
11-64565002-G-C | c.1141C>G | p.L381V | Missense | 17/32 | - | 2 |
11-64565016-G-A | c.1137-10C>T | - | IntronicSNV | - | 16/31 | 1 |
11-64565101-T-C | c.1133A>G | p.E378G | Missense | 16/32 | - | 1 |
11-64565114-C-CA | c.1119_1120insT | p.E374* | Nonsense | 16/32 | - | 1 |
11-64565133-G-C | c.1101C>G | p.S367R | Missense | 16/32 | - | 1 |
11-64565208-C-G | c.1098-72G>C | - | IntronicSNV | - | 15/31 | 1 |
11-64565208-C-T | c.1098-72G>A | - | IntronicSNV | - | 15/31 | 1 |
11-64565240-C-T | c.1098-104G>A | - | IntronicSNV | - | 15/31 | 1 |
11-64565589-T-A | c.1098-453A>T | - | IntronicSNV | - | 15/31 | 1 |
11-64565589-T-C | c.1098-453A>G | - | IntronicSNV | - | 15/31 | 1 |
11-64566069-C-T | c.1097+197G>A | - | IntronicSNV | - | 15/31 | 1 |
11-64566269-C-G | c.1094G>C | p.S365T | Missense | 15/32 | - | 1 |
11-64566274-C-T | c.1089G>A | p.E363= | Synonymous | 15/32 | - | 1 |
11-64566279-C-T | c.1084G>A | p.E362K | Missense | 15/32 | - | 1 |
11-64566281-T-A | c.1082A>T | p.K361M | Missense | 15/32 | - | 1 |
11-64566288-G-C | c.1075C>G | p.L359V | Missense | 15/32 | - | 1 |
11-64566297-A-G | c.1066T>C | p.W356R | Missense | 15/32 | - | 1 |
11-64566297-A-T | c.1066T>A | p.W356R | Missense | 15/32 | - | 1 |
11-64566306-C-A | c.1057G>T | p.E353* | Nonsense | 15/32 | - | 1 |
11-64566392-A-G | c.1054-83T>C | - | IntronicSNV | - | 14/31 | 1 |
11-64566771-T-C | c.1053+122A>G | - | IntronicSNV | - | 14/31 | 1 |
11-64566886-C-T | c.1053+7G>A | - | IntronicSNV | - | 14/31 | 1 |
11-64566888-C-T | c.1053+5G>A | - | IntronicSNV | - | 14/31 | 1 |
11-64566893-C-T | c.1053G>A | p.P351= | Synonymous | 14/32 | - | 1 |
11-64566894-G-T | c.1052C>A | p.P351Q | Missense | 14/32 | - | 1 |
11-64566895-G-A | c.1051C>T | p.P351S | Missense | 14/32 | - | 1 |
11-64566900-T-C | c.1046A>G | p.N349S | Missense | 14/32 | - | 1 |
11-64566902-C-A | c.1044G>T | p.L348= | Synonymous | 14/32 | - | 1 |
11-64566902-C-G | c.1044G>C | p.L348= | Synonymous | 14/32 | - | 1 |
11-64566902-C-T | c.1044G>A | p.L348= | Synonymous | 14/32 | - | 1 |
11-64566904-G-A | c.1042C>T | p.L348= | Synonymous | 14/32 | - | 1 |
11-64566906-G-A | c.1040C>T | p.P347L | Missense | 14/32 | - | 1 |
11-64566914-T-C | c.1032A>G | p.E344= | Synonymous | 14/32 | - | 1 |
11-64566925-G-A | c.1021C>T | p.R341C | Missense | 14/32 | - | 2 |
11-64566925-G-C | c.1021C>G | p.R341G | Missense | 14/32 | - | 2 |
11-64566926-T-C | c.1020A>G | p.P340= | Synonymous | 14/32 | - | 1 |
11-64566927-G-T | c.1019C>A | p.P340Q | Missense | 14/32 | - | 1 |
11-64566931-C-T | c.1015G>A | p.A339T | Missense | 14/32 | - | 2 |
11-64566932-G-A | c.1014C>T | p.G338= | Synonymous | 14/32 | - | 2 |
11-64566932-G-C | c.1014C>G | p.G338= | Synonymous | 14/32 | - | 1 |
11-64566932-G-T | c.1014C>A | p.G338= | Synonymous | 14/32 | - | 1 |
11-64566936-A-T | c.1010T>A | p.F337Y | Missense | 14/32 | - | 1 |
11-64566938-T-A | c.1008A>T | p.K336N | Missense | 14/32 | - | 1 |
11-64566938-T-G | c.1008A>C | p.K336N | Missense | 14/32 | - | 1 |
11-64566951-A-G | c.995T>C | p.F332S | Missense | 14/32 | - | 1 |
11-64567047-GCA-G | c.994+28_994+29del | - | IntronicDeletion | - | 13/31 | 3 |
11-64567087-C-A | c.984G>T | p.S328= | Synonymous | 13/32 | - | 1 |
11-64567087-C-G | c.984G>C | p.S328= | Synonymous | 13/32 | - | 1 |
11-64567087-C-T | c.984G>A | p.S328= | Synonymous | 13/32 | - | 1 |
11-64567088-G-A | c.983C>T | p.S328L | Missense | 13/32 | - | 4 |
11-64567090-G-A | c.981C>T | p.P327= | Synonymous | 13/32 | - | 1 |
11-64567091-G-A | c.980C>T | p.P327L | Missense | 13/32 | - | 4 |
11-64567094-G-A | c.977C>T | p.T326I | Missense | 13/32 | - | 2 |
11-64567097-C-T | c.974G>A | p.R325K | Missense | 13/32 | - | 1 |
11-64567102-G-A | c.969C>T | p.A323= | Synonymous | 13/32 | - | 1 |
11-64567108-G-A | c.963C>T | p.G321= | Synonymous | 13/32 | - | 1 |
11-64567109-C-T | c.962G>A | p.G321D | Missense | 13/32 | - | 1 |
11-64567116-G-A | c.955C>T | p.Q319* | Nonsense | 13/32 | - | 1 |
11-64567117-C-A | c.954G>T | p.G318= | Synonymous | 13/32 | - | 1 |
11-64567121-C-T | c.950G>A | p.R317Q | Missense | 13/32 | - | 3 |
11-64567124-G-A | c.947C>T | p.S316F | Missense | 13/32 | - | 1 |
11-64567128-G-A | c.943C>T | p.H315Y | Missense | 13/32 | - | 1 |
11-64567129-AA-CT | c.941_942delinsAG | p.I314K | Missense | 13/32 | - | 1 |
11-64567138-T-A | c.933A>T | p.P311= | Synonymous | 13/32 | - | 1 |
11-64567138-T-C | c.933A>G | p.P311= | Synonymous | 13/32 | - | 1 |
11-64567138-T-G | c.933A>C | p.P311= | Synonymous | 13/32 | - | 1 |
11-64567578-CTA-C | c.915+2_915+3del | - | IntronicDeletion | - | 12/31 | 1 |
11-64567584-C-A | c.912G>T | p.L304= | Synonymous | 12/32 | - | 1 |
11-64567584-C-G | c.912G>C | p.L304= | Synonymous | 12/32 | - | 1 |
11-64567584-C-T | c.912G>A | p.L304= | Synonymous | 12/32 | - | 1 |
11-64567586-G-A | c.910C>T | p.L304= | Synonymous | 12/32 | - | 1 |
11-64567587-C-A | c.909G>T | p.E303D | Missense | 12/32 | - | 1 |
11-64567589-C-G | c.907G>C | p.E303Q | Missense | 12/32 | - | 1 |
11-64567590-A-C | c.906T>G | p.C302W | Missense | 12/32 | - | 1 |
11-64567593-G-T | c.903C>A | p.D301E | Missense | 12/32 | - | 1 |
11-64567596-C-T | c.900G>A | p.E300= | Synonymous | 12/32 | - | 1 |
11-64567598-C-T | c.898G>A | p.E300K | Missense | 12/32 | - | 1 |
11-64567604-GA-G | c.892del | p.S298Pfs*38 | Frameshift | 12/32 | - | 1 |
11-64567608-GG-CC | c.887_888inv | p.T296R | Missense | 12/32 | - | 1 |
11-64567616-G-C | c.880C>G | p.L294V | Missense | 12/32 | - | 1 |
11-64567621-G-A | c.875C>T | p.P292L | Missense | 12/32 | - | 1 |
11-64567630-G-T | c.866C>A | p.A289D | Missense | 12/32 | - | 1 |
11-64567647-T-G | c.849A>C | p.T283= | Synonymous | 12/32 | - | 1 |
11-64567648-G-A | c.848C>T | p.T283I | Missense | 12/32 | - | 1 |
11-64567649-T-C | c.847A>G | p.T283A | Missense | 12/32 | - | 1 |
11-64567650-G-A | c.846C>T | p.L282= | Synonymous | 12/32 | - | 2 |
11-64567650-G-C | c.846C>G | p.L282= | Synonymous | 12/32 | - | 1 |
11-64567650-G-T | c.846C>A | p.L282= | Synonymous | 12/32 | - | 1 |
11-64567660-C-A | c.836G>T | p.R279L | Missense | 12/32 | - | 1 |
11-64567661-G-A | c.835C>T | p.R279W | Missense | 12/32 | - | 5 |
11-64567661-G-C | c.835C>G | p.R279G | Missense | 12/32 | - | 1 |
11-64567663-G-T | c.833C>A | p.P278H | Missense | 12/32 | - | 3 |
11-64567664-G-A | c.832C>T | p.P278S | Missense | 12/32 | - | 5 |
11-64567673-G-A | c.823C>T | p.Q275* | Nonsense | 12/32 | - | 1 |
11-64567674-AGTCGTGAAC-A | c.813_821del | p.F272_T274del | InFrameDeletion | 12/32 | - | 1 |
11-64567678-G-A | c.818C>T | p.T273M | Missense | 12/32 | - | 1 |
11-64567680-G-C | c.816C>G | p.F272L | Missense | 12/32 | - | 1 |
11-64567680-G-T | c.816C>A | p.F272L | Missense | 12/32 | - | 1 |
11-64567682-A-G | c.814T>C | p.F272L | Missense | 12/32 | - | 2 |
11-64567683-C-T | c.813G>A | p.P271= | Synonymous | 12/32 | - | 1 |
11-64567692-G-C | c.808-4C>G | - | IntronicSNV | - | 11/31 | 4 |
11-64567785-G-A | c.805C>T | p.Q269* | Nonsense | 11/32 | - | 1 |
11-64567789-G-A | c.801C>T | p.L267= | Synonymous | 11/32 | - | 3 |
11-64567792-C-A | c.798G>T | p.K266N | Missense | 11/32 | - | 1 |
11-64567805-G-A | c.785C>T | p.P262L | Missense | 11/32 | - | 3 |
11-64567805-G-C | c.785C>G | p.P262R | Missense | 11/32 | - | 3 |
11-64567806-G-A | c.784C>T | p.P262S | Missense | 11/32 | - | 4 |
11-64567807-CCT-ACA | c.781_783delinsTGT | p.R261C | Missense | 11/32 | - | 1 |
11-64567810-C-G | c.780G>C | p.K260N | Missense | 11/32 | - | 1 |
11-64567812-T-G | c.778A>C | p.K260Q | Missense | 11/32 | - | 1 |
11-64567818-G-A | c.772C>T | p.P258S | Missense | 11/32 | - | 1 |
11-64567822-C-A | c.768G>T | p.K256N | Missense | 11/32 | - | 2 |
11-64567822-C-G | c.768G>C | p.K256N | Missense | 11/32 | - | 1 |
11-64567822-C-CTTGATGTTGATCTTTGTCTTGCTAAGG | c.767_768insCCTTAGCAAGACAAAGATCAACATCAA | p.T255_K256insNLSKTKINI | InFrameInsertion | 11/32 | - | 1 |
11-64567826-G-C | c.764C>G | p.T255S | Missense | 11/32 | - | 1 |
11-64567829-A-G | c.761T>C | p.L254P | Missense | 11/32 | - | 1 |
11-64567831-G-T | c.759C>A | p.A253= | Synonymous | 11/32 | - | 1 |
11-64567837-T-C | c.753A>G | p.K251= | Synonymous | 11/32 | - | 1 |
11-64567840-G-A | c.750C>T | p.L250= | Synonymous | 11/32 | - | 2 |
11-64567840-G-C | c.750C>G | p.L250= | Synonymous | 11/32 | - | 3 |
11-64567840-G-T | c.750C>A | p.L250= | Synonymous | 11/32 | - | 2 |
11-64567842-G-A | c.748C>T | p.L250F | Missense | 11/32 | - | 1 |
11-64567852-G-C | c.738C>G | p.F246L | Missense | 11/32 | - | 1 |
11-64567852-G-T | c.738C>A | p.F246L | Missense | 11/32 | - | 1 |
11-64567854-A-C | c.736T>G | p.F246V | Missense | 11/32 | - | 1 |
11-64567854-A-G | c.736T>C | p.F246L | Missense | 11/32 | - | 1 |
11-64567856-T-C | c.734A>G | p.N245S | Missense | 11/32 | - | 1 |
11-64567858-C-T | c.732G>A | p.Q244= | Synonymous | 11/32 | - | 1 |
11-64568230-C-T | c.725+6G>A | - | IntronicSNV | - | 10/31 | 2 |
11-64568236-C-A | c.725G>T | p.W242L | Missense | 10/32 | - | 1 |
11-64568237-A-G | c.724T>C | p.W242R | Missense | 10/32 | - | 1 |
11-64568237-A-T | c.724T>A | p.W242R | Missense | 10/32 | - | 1 |
11-64568244-CT-GA | c.716_717delinsTC | p.K239I | Missense | 10/32 | - | 1 |
11-64568250-TCT-ATG | c.709_711delinsCAT | p.R237H | Missense | 10/32 | - | 1 |
11-64568260-G-A | c.701C>T | p.P234L | Missense | 10/32 | - | 1 |
11-64568262-C-A | c.699G>T | p.P233= | Synonymous | 10/32 | - | 1 |
11-64568262-C-G | c.699G>C | p.P233= | Synonymous | 10/32 | - | 1 |
11-64568262-C-T | c.699G>A | p.P233= | Synonymous | 10/32 | - | 1 |
11-64568263-G-T | c.698C>A | p.P233Q | Missense | 10/32 | - | 1 |
11-64568268-G-A | c.693C>T | p.F231= | Synonymous | 10/32 | - | 2 |
11-64568277-C-A | c.684G>T | p.K228N | Missense | 10/32 | - | 1 |
11-64568277-C-G | c.684G>C | p.K228N | Missense | 10/32 | - | 1 |
11-64568280-C-T | c.681G>A | p.S227= | Synonymous | 10/32 | - | 2 |
11-64568281-G-A | c.680C>T | p.S227L | Missense | 10/32 | - | 2 |
11-64568291-T-C | c.670A>G | p.M224V | Missense | 10/32 | - | 6 |
11-64568367-C-T | c.662+5G>A | - | IntronicSNV | - | 9/31 | 1 |
11-64568371-CCTCATGGGGTG-C | c.652_662del | p.H218Gfs*18 | SpliceDonorDeletion | 9/32 | - | 1 |
11-64568378-G-T | c.656C>A | p.P219H | Missense | 9/32 | - | 1 |
11-64568380-G-C | c.654C>G | p.H218Q | Missense | 9/32 | - | 1 |
11-64568380-G-T | c.654C>A | p.H218Q | Missense | 9/32 | - | 1 |
11-64568382-G-A | c.652C>T | p.H218Y | Missense | 9/32 | - | 4 |
11-64568384-A-G | c.650T>C | p.L217P | Missense | 9/32 | - | 1 |
11-64568392-C-A | c.642G>T | p.L214= | Synonymous | 9/32 | - | 1 |
11-64568392-C-G | c.642G>C | p.L214= | Synonymous | 9/32 | - | 1 |
11-64568392-C-T | c.642G>A | p.L214= | Synonymous | 9/32 | - | 1 |
11-64568394-G-A | c.640C>T | p.L214= | Synonymous | 9/32 | - | 1 |
11-64568397-G-A | c.637C>T | p.P213S | Missense | 9/32 | - | 2 |
11-64568399-G-A | c.635C>T | p.P212L | Missense | 9/32 | - | 1 |
11-64568399-G-T | c.635C>A | p.P212H | Missense | 9/32 | - | 1 |
11-64568402-T-A | c.632A>T | p.Q211L | Missense | 9/32 | - | 3 |
11-64568403-G-A | c.631C>T | p.Q211* | Nonsense | 9/32 | - | 1 |
11-64568406-G-T | c.628C>A | p.L210M | Missense | 9/32 | - | 1 |
11-64568409-C-T | c.625G>A | p.E209K | Missense | 9/32 | - | 3 |
11-64568410-G-A | c.624C>T | p.G208= | Synonymous | 9/32 | - | 2 |
11-64568410-G-C | c.624C>G | p.G208= | Synonymous | 9/32 | - | 1 |
11-64568410-G-T | c.624C>A | p.G208= | Synonymous | 9/32 | - | 1 |
11-64568412-C-A | c.622G>T | p.G208C | Missense | 9/32 | - | 1 |
11-64568414-A-G | c.620T>C | p.L207P | Missense | 9/32 | - | 2 |
11-64568434-C-A | c.600G>T | p.L200= | Synonymous | 9/32 | - | 3 |
11-64568434-C-G | c.600G>C | p.L200= | Synonymous | 9/32 | - | 4 |
11-64568434-C-T | c.600G>A | p.L200= | Synonymous | 9/32 | - | 3 |
11-64568436-G-A | c.598C>T | p.L200= | Synonymous | 9/32 | - | 4 |
11-64568443-G-A | c.591C>T | p.V197= | Synonymous | 9/32 | - | 1 |
11-64568443-G-C | c.591C>G | p.V197= | Synonymous | 9/32 | - | 1 |
11-64568443-G-T | c.591C>A | p.V197= | Synonymous | 9/32 | - | 1 |
11-64568454-G-C | c.580C>G | p.L194V | Missense | 9/32 | - | 1 |
11-64568458-A-C | c.576T>G | p.N192K | Missense | 9/32 | - | 1 |
11-64568462-T-C | c.572A>G | p.Y191C | Missense | 9/32 | - | 1 |
11-64568469-C-G | c.565G>C | p.G189R | Missense | 9/32 | - | 1 |
11-64568474-C-T | c.560G>A | p.R187H | Missense | 9/32 | - | 1 |
11-64568475-G-A | c.559C>T | p.R187C | Missense | 9/32 | - | 1 |
11-64568483-G-A | c.551C>T | p.A184V | Missense | 9/32 | - | 2 |
11-64568498-G-A | c.536C>T | p.A179V | Missense | 9/32 | - | 1 |
11-64568501-ATCCTAGAGGTGGGGTCACAGATGGGATGGCCGGGTGCCCTGCTCTGTGGCCCCTACCCC-A | c.530+23_532del | - | SpliceAcceptorDeletion | - | 8/31 | 1 |
11-64568542-G-A | c.531-39C>T | - | IntronicSNV | - | 8/31 | 1 |
11-64568580-C-T | c.530+3G>A | - | IntronicSNV | - | 8/31 | 1 |
11-64568589-G-A | c.524C>T | p.P175L | Missense | 8/32 | - | 1 |
11-64568589-G-C | c.524C>G | p.P175R | Missense | 8/32 | - | 1 |
11-64568591-AG-CA | c.521_522delinsTG | p.T174M | Missense | 8/32 | - | 1 |
11-64568595-C-A | c.518G>T | p.G173V | Missense | 8/32 | - | 4 |
11-64568599-T-C | c.514A>G | p.I172V | Missense | 8/32 | - | 1 |
11-64568600-G-A | c.513C>T | p.F171= | Synonymous | 8/32 | - | 4 |
11-64568606-C-T | c.507G>A | p.R169= | Synonymous | 8/32 | - | 1 |
11-64568613-T-A | c.500A>T | p.K167M | Missense | 8/32 | - | 1 |
11-64568613-T-G | c.500A>C | p.K167T | Missense | 8/32 | - | 1 |
11-64568629-T-C | c.484A>G | p.T162A | Missense | 8/32 | - | 1 |
11-64568635-C-T | c.478G>A | p.E160K | Missense | 8/32 | - | 1 |
11-64568640-G-A | c.473C>T | p.S158L | Missense | 8/32 | - | 1 |
11-64568644-C-A | c.469G>T | p.V157L | Missense | 8/32 | - | 1 |
11-64568644-C-G | c.469G>C | p.V157L | Missense | 8/32 | - | 1 |
11-64569000-C-T | c.457+51G>A | - | IntronicSNV | - | 7/31 | 2 |
11-64569050-C-A | c.457+1G>T | - | IntronicSNV | - | 7/31 | 1 |
11-64569051-C-T | c.457G>A | p.A153T | Missense | 7/32 | - | 1 |
11-64569057-T-G | c.451A>C | p.K151Q | Missense | 7/32 | - | 2 |
11-64569067-C-A | c.441G>T | p.Q147H | Missense | 7/32 | - | 1 |
11-64569069-G-A | c.439C>T | p.Q147* | Nonsense | 7/32 | - | 1 |
11-64569070-G-A | c.438C>T | p.L146= | Synonymous | 7/32 | - | 1 |
11-64569070-G-C | c.438C>G | p.L146= | Synonymous | 7/32 | - | 1 |
11-64569070-G-T | c.438C>A | p.L146= | Synonymous | 7/32 | - | 1 |
11-64569071-A-G | c.437T>C | p.L146P | Missense | 7/32 | - | 1 |
11-64569072-G-A | c.436C>T | p.L146F | Missense | 7/32 | - | 2 |
11-64569074-G-C | c.434C>G | p.T145S | Missense | 7/32 | - | 1 |
11-64569075-T-A | c.433A>T | p.T145S | Missense | 7/32 | - | 1 |
11-64569077-A-G | c.431T>C | p.L144P | Missense | 7/32 | - | 1 |
11-64569081-G-A | c.427C>T | p.L143F | Missense | 7/32 | - | 1 |
11-64569082-A-C | c.426T>G | p.L142= | Synonymous | 7/32 | - | 1 |
11-64569082-A-G | c.426T>C | p.L142= | Synonymous | 7/32 | - | 1 |
11-64569082-A-T | c.426T>A | p.L142= | Synonymous | 7/32 | - | 1 |
11-64569086-T-G | c.422A>C | p.N141T | Missense | 7/32 | - | 1 |
11-64569092-C-T | c.416G>A | p.G139E | Missense | 7/32 | - | 1 |
11-64569189-T-A | c.407A>T | p.D136V | Missense | 6/32 | - | 1 |
11-64569190-C-T | c.406G>A | p.D136N | Missense | 6/32 | - | 1 |
11-64569191-TCT-ACA | c.403_405delinsTGT | p.R135C | Missense | 6/32 | - | 1 |
11-64569205-C-G | c.391G>C | p.G131R | Missense | 6/32 | - | 1 |
11-64569205-C-T | c.391G>A | p.G131R | Missense | 6/32 | - | 1 |
11-64569209-A-C | c.387T>G | p.S129= | Synonymous | 6/32 | - | 1 |
11-64569209-A-G | c.387T>C | p.S129= | Synonymous | 6/32 | - | 1 |
11-64569209-A-T | c.387T>A | p.S129= | Synonymous | 6/32 | - | 1 |
11-64569227-C-T | c.369G>A | p.G123= | Synonymous | 6/32 | - | 1 |
11-64569538-C-T | c.366G>A | p.K122= | Synonymous | 5/32 | - | 2 |
11-64569546-C-A | c.358G>T | p.A120S | Missense | 5/32 | - | 5 |
11-64569551-C-T | c.353G>A | p.R118Q | Missense | 5/32 | - | 1 |
11-64569554-C-T | c.350G>A | p.C117Y | Missense | 5/32 | - | 1 |
11-64569558-C-T | c.346G>A | p.V116I | Missense | 5/32 | - | 2 |
11-64569562-G-A | c.342C>T | p.A114= | Synonymous | 5/32 | - | 1 |
11-64569562-G-C | c.342C>G | p.A114= | Synonymous | 5/32 | - | 1 |
11-64569562-G-T | c.342C>A | p.A114= | Synonymous | 5/32 | - | 1 |
11-64569568-C-A | c.336G>T | p.Q112H | Missense | 5/32 | - | 1 |
11-64569568-C-G | c.336G>C | p.Q112H | Missense | 5/32 | - | 1 |
11-64569572-C-G | c.332G>C | p.R111P | Missense | 5/32 | - | 5 |
11-64569572-C-T | c.332G>A | p.R111Q | Missense | 5/32 | - | 3 |
11-64569579-C-T | c.325G>A | p.E109K | Missense | 5/32 | - | 1 |
11-64569587-C-T | c.317G>A | p.G106E | Missense | 5/32 | - | 1 |
11-64569590-G-A | c.314C>T | p.T105I | Missense | 5/32 | - | 1 |
11-64569629-G-A | c.311-36C>T | - | IntronicSNV | - | 4/31 | 1 |
11-64569857-TG-T | c.310+33del | - | IntronicDeletion | - | 4/31 | 1 |
11-64569857-T-TG | c.310+33dup | - | IntronicInsertion | - | 4/31 | 1 |
11-64569906-G-A | c.295C>T | p.Q99* | Nonsense | 4/32 | - | 1 |
11-64569912-A-C | c.289T>G | p.S97A | Missense | 4/32 | - | 1 |
11-64569914-C-A | c.287G>T | p.G96V | Missense | 4/32 | - | 1 |
11-64569922-G-A | c.279C>T | p.C93= | Synonymous | 4/32 | - | 3 |
11-64569927-A-G | c.274T>C | p.F92L | Missense | 4/32 | - | 1 |
11-64569928-C-A | c.273G>T | p.E91D | Missense | 4/32 | - | 1 |
11-64569928-C-G | c.273G>C | p.E91D | Missense | 4/32 | - | 1 |
11-64569934-G-A | c.267C>T | p.C89= | Synonymous | 4/32 | - | 1 |
11-64569938-AT-TG | c.262_263delinsCA | p.I88H | Missense | 4/32 | - | 1 |
11-64569951-C-A | c.250G>T | p.D84Y | Missense | 4/32 | - | 1 |
11-64569959-G-A | c.246-4C>T | - | IntronicSNV | - | 3/31 | 1 |
11-64570036-T-C | c.244A>G | p.R82G | Missense | 3/32 | - | 1 |
11-64570047-C-G | c.233G>C | p.G78A | Missense | 3/32 | - | 1 |
11-64570048-C-G | c.232G>C | p.G78R | Missense | 3/32 | - | 1 |
11-64570049-A-G | c.231T>C | p.I77= | Synonymous | 3/32 | - | 1 |
11-64570049-A-T | c.231T>A | p.I77= | Synonymous | 3/32 | - | 1 |
11-64570055-G-A | c.225C>T | p.A75= | Synonymous | 3/32 | - | 1 |
11-64570055-G-C | c.225C>G | p.A75= | Synonymous | 3/32 | - | 1 |
11-64570055-G-T | c.225C>A | p.A75= | Synonymous | 3/32 | - | 1 |
11-64570056-G-A | c.224C>T | p.A75V | Missense | 3/32 | - | 1 |
11-64570057-C-T | c.223G>A | p.A75T | Missense | 3/32 | - | 2 |
11-64570058-C-A | c.222G>T | p.V74= | Synonymous | 3/32 | - | 1 |
11-64570058-CAC-AAA | c.220_222delinsTTT | p.V74F | Missense | 3/32 | - | 1 |
11-64570058-C-G | c.222G>C | p.V74= | Synonymous | 3/32 | - | 1 |
11-64570058-C-T | c.222G>A | p.V74= | Synonymous | 3/32 | - | 1 |
11-64570065-T-C | c.215A>G | p.N72S | Missense | 3/32 | - | 1 |
11-64570067-G-A | c.213C>T | p.P71= | Synonymous | 3/32 | - | 1 |
11-64570067-G-C | c.213C>G | p.P71= | Synonymous | 3/32 | - | 1 |
11-64570067-G-T | c.213C>A | p.P71= | Synonymous | 3/32 | - | 1 |
11-64570076-G-T | c.204C>A | p.C68* | Nonsense | 3/32 | - | 1 |
11-64570078-A-G | c.202T>C | p.C68R | Missense | 3/32 | - | 2 |
11-64570081-C-T | c.199G>A | p.E67K | Missense | 3/32 | - | 2 |
11-64570084-G-A | c.196C>T | p.R66C | Missense | 3/32 | - | 1 |
11-64570095-A-G | c.185T>C | p.I62T | Missense | 3/32 | - | 2 |
11-64570097-T-C | c.183A>G | p.E61= | Synonymous | 3/32 | - | 1 |
11-64570108-G-A | c.172C>T | p.L58F | Missense | 3/32 | - | 1 |
11-64570109-G-A | c.171C>T | p.S57= | Synonymous | 3/32 | - | 1 |
11-64570110-G-A | c.170C>T | p.S57F | Missense | 3/32 | - | 1 |
11-64570115-GA-CT | c.164_165delinsAG | p.I55K | Missense | 3/32 | - | 1 |
11-64570342-G-C | c.154+15C>G | - | IntronicSNV | - | 2/31 | 1 |
11-64570353-T-A | c.154+4A>T | - | IntronicSNV | - | 2/31 | 1 |
11-64570363-C-T | c.148G>A | p.D50N | Missense | 2/32 | - | 1 |
11-64570373-T-G | c.138A>C | p.I46= | Synonymous | 2/32 | - | 1 |
11-64570378-T-C | c.133A>G | p.K45E | Missense | 2/32 | - | 1 |
11-64570382-G-C | c.129C>G | p.A43= | Synonymous | 2/32 | - | 1 |
11-64570382-G-T | c.129C>A | p.A43= | Synonymous | 2/32 | - | 1 |
11-64570385-G-T | c.126C>A | p.A42= | Synonymous | 2/32 | - | 1 |
11-64570386-GC-TA | c.124_125delinsTA | p.A42Y | Missense | 2/32 | - | 2 |
11-64570391-T-A | c.120A>T | p.E40D | Missense | 2/32 | - | 1 |
11-64570391-T-G | c.120A>C | p.E40D | Missense | 2/32 | - | 1 |
11-64570403-C-G | c.108G>C | p.T36= | Synonymous | 2/32 | - | 1 |
11-64570403-C-T | c.108G>A | p.T36= | Synonymous | 2/32 | - | 1 |
11-64570409-GCG-CAT | c.100_102delinsATG | p.R34M | Missense | 2/32 | - | 1 |
11-64570409-GC-TT | c.101_102delinsAA | p.R34Q | Missense | 2/32 | - | 1 |
11-64570411-G-A | c.100C>T | p.R34C | Missense | 2/32 | - | 1 |
11-64570473-C-T | c.96+53G>A | - | IntronicSNV | - | 1/31 | 1 |
11-64570527-T-C | c.95A>G | p.K32R | Missense | 1/32 | - | 1 |
11-64570528-T-G | c.94A>C | p.K32Q | Missense | 1/32 | - | 1 |
11-64570530-T-C | c.92A>G | p.Y31C | Missense | 1/32 | - | 1 |
11-64570532-G-GA | c.89dup | p.Y31Lfs*37 | Frameshift | 1/32 | - | 1 |
11-64570551-G-T | c.71C>A | p.A24D | Missense | 1/32 | - | 1 |
11-64570555-C-A | c.67G>T | p.G23W | Missense | 1/32 | - | 1 |
11-64570568-CAG-GAT | c.52_54delinsATC | p.L18I | Missense | 1/32 | - | 1 |
11-64570594-G-A | c.28C>T | p.Q10* | Nonsense | 1/32 | - | 1 |
11-64570608-C-A | c.14G>T | p.R5L | Missense | 1/32 | - | 1 |
11-64570616-C-T | c.6G>A | p.A2= | Synonymous | 1/32 | - | 1 |
11-64570621-T-C | c.1A>G | p.M1? | Missense | 1/32 | - | 1 |
11-64570637-G-A | c.-16C>T | - | 5-UTRSNV | 1/32 | - | 1 |
11-64570637-G-T | c.-16C>A | - | 5-UTRSNV | 1/32 | - | 1 |