Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
17-43002672-A-G | c.*776T>C | - | 3-UTRSNV | 16/16 | - | 2 |
17-43002687-C-T | c.*761G>A | - | 3-UTRSNV | 16/16 | - | 1 |
17-43003461-G-A | c.2546C>T | p.T849I | Missense | 16/16 | - | 1 |
17-43003465-C-T | c.2542G>A | p.V848I | Missense | 16/16 | - | 1 |
17-43003466-G-A | c.2541C>T | p.G847= | Synonymous | 16/16 | - | 1 |
17-43003474-C-G | c.2533G>C | p.G845R | Missense | 16/16 | - | 1 |
17-43003474-C-T | c.2533G>A | p.G845R | Missense | 16/16 | - | 1 |
17-43003475-T-C | c.2532A>G | p.A844= | Synonymous | 16/16 | - | 2 |
17-43003482-A-G | c.2525T>C | p.L842P | Missense | 16/16 | - | 1 |
17-43003483-G-T | c.2524C>A | p.L842I | Missense | 16/16 | - | 1 |
17-43003484-T-A | c.2523A>T | p.A841= | Synonymous | 16/16 | - | 2 |
17-43003484-T-C | c.2523A>G | p.A841= | Synonymous | 16/16 | - | 13 |
17-43003484-T-G | c.2523A>C | p.A841= | Synonymous | 16/16 | - | 2 |
17-43003485-G-A | c.2522C>T | p.A841V | Missense | 16/16 | - | 4 |
17-43003485-G-C | c.2522C>G | p.A841G | Missense | 16/16 | - | 1 |
17-43003488-C-T | c.2519G>A | p.R840K | Missense | 16/16 | - | 1 |
17-43003498-T-TA | c.2508_2509insT | p.R837* | Nonsense | 16/16 | - | 1 |
17-43003502-G-A | c.2505C>T | p.L835= | Synonymous | 16/16 | - | 1 |
17-43003515-T-G | c.2492A>C | p.N831T | Missense | 16/16 | - | 1 |
17-43003517-CCT-ACA | c.2488_2490delinsTGT | p.R830C | Missense | 16/16 | - | 1 |
17-43003519-T-C | c.2488A>G | p.R830G | Missense | 16/16 | - | 1 |
17-43003524-T-C | c.2483A>G | p.N828S | Missense | 16/16 | - | 1 |
17-43003530-G-A | c.2477C>T | p.P826L | Missense | 16/16 | - | 3 |
17-43003538-G-A | c.2469C>T | p.P823= | Synonymous | 16/16 | - | 3 |
17-43003538-G-C | c.2469C>G | p.P823= | Synonymous | 16/16 | - | 1 |
17-43003538-G-T | c.2469C>A | p.P823= | Synonymous | 16/16 | - | 1 |
17-43003539-G-A | c.2468C>T | p.P823L | Missense | 16/16 | - | 4 |
17-43003548-G-C | c.2459C>G | p.P820R | Missense | 16/16 | - | 1 |
17-43003552-G-C | c.2455C>G | p.L819V | Missense | 16/16 | - | 1 |
17-43003554-T-C | c.2453A>G | p.E818G | Missense | 16/16 | - | 1 |
17-43003578-C-T | c.2453-24G>A | - | IntronicSNV | - | 15/15 | 3 |
17-43003764-G-A | c.2452+18C>T | - | IntronicSNV | - | 15/15 | 1 |
17-43003774-C-T | c.2452+8G>A | - | IntronicSNV | - | 15/15 | 1 |
17-43003780-A-T | c.2452+2T>A | - | IntronicSNV | - | 15/15 | 1 |
17-43003782-C-T | c.2452G>A | p.E818K | Missense | 15/16 | - | 2 |
17-43003784-G-C | c.2450C>G | p.P817R | Missense | 15/16 | - | 1 |
17-43003789-T-A | c.2445A>T | p.V815= | Synonymous | 15/16 | - | 1 |
17-43003789-T-C | c.2445A>G | p.V815= | Synonymous | 15/16 | - | 1 |
17-43003789-T-G | c.2445A>C | p.V815= | Synonymous | 15/16 | - | 1 |
17-43003790-A-G | c.2444T>C | p.V815A | Missense | 15/16 | - | 1 |
17-43003794-G-A | c.2440C>T | p.L814F | Missense | 15/16 | - | 2 |
17-43003796-G-A | c.2438C>T | p.P813L | Missense | 15/16 | - | 1 |
17-43003800-C-T | c.2434G>A | p.G812R | Missense | 15/16 | - | 1 |
17-43003803-C-A | c.2431G>T | p.A811S | Missense | 15/16 | - | 2 |
17-43003817-G-A | c.2417C>T | p.T806I | Missense | 15/16 | - | 1 |
17-43003820-CT-GC | c.2413_2414delinsGC | p.S805A | Missense | 15/16 | - | 1 |
17-43003825-G-A | c.2409C>T | p.P803= | Synonymous | 15/16 | - | 1 |
17-43003826-G-A | c.2408C>T | p.P803L | Missense | 15/16 | - | 2 |
17-43003827-G-A | c.2407C>T | p.P803S | Missense | 15/16 | - | 4 |
17-43003828-G-A | c.2406C>T | p.L802= | Synonymous | 15/16 | - | 1 |
17-43003832-C-T | c.2402G>A | p.R801H | Missense | 15/16 | - | 1 |
17-43003834-G-A | c.2400C>T | p.A800= | Synonymous | 15/16 | - | 4 |
17-43003834-G-C | c.2400C>G | p.A800= | Synonymous | 15/16 | - | 1 |
17-43003834-G-T | c.2400C>A | p.A800= | Synonymous | 15/16 | - | 1 |
17-43003836-C-T | c.2398G>A | p.A800T | Missense | 15/16 | - | 2 |
17-43003841-C-A | c.2393G>T | p.R798L | Missense | 15/16 | - | 1 |
17-43003846-G-A | c.2388C>T | p.R796= | Synonymous | 15/16 | - | 1 |
17-43003847-C-T | c.2387G>A | p.R796H | Missense | 15/16 | - | 3 |
17-43003848-G-A | c.2386C>T | p.R796C | Missense | 15/16 | - | 1 |
17-43003851-C-T | c.2383G>A | p.G795S | Missense | 15/16 | - | 1 |
17-43003855-G-A | c.2379C>T | p.S793= | Synonymous | 15/16 | - | 1 |
17-43003861-T-C | c.2373A>G | p.S791= | Synonymous | 15/16 | - | 1 |
17-43003863-A-C | c.2371T>G | p.S791A | Missense | 15/16 | - | 4 |
17-43003865-G-A | c.2369C>T | p.S790F | Missense | 15/16 | - | 1 |
17-43004214-C-T | c.2366+143G>A | - | IntronicSNV | - | 14/15 | 1 |
17-43004285-C-T | c.2366+72G>A | - | IntronicSNV | - | 14/15 | 1 |
17-43004328-C-T | c.2366+29G>A | - | IntronicSNV | - | 14/15 | 1 |
17-43004357-C-A | c.2366G>T | p.S789I | Missense | 14/16 | - | 1 |
17-43004359-C-T | c.2364G>A | p.A788= | Synonymous | 14/16 | - | 1 |
17-43004360-G-A | c.2363C>T | p.A788V | Missense | 14/16 | - | 1 |
17-43004364-C-G | c.2359G>C | p.V787L | Missense | 14/16 | - | 1 |
17-43004364-C-T | c.2359G>A | p.V787I | Missense | 14/16 | - | 3 |
17-43004365-G-A | c.2358C>T | p.R786= | Synonymous | 14/16 | - | 1 |
17-43004366-C-A | c.2357G>T | p.R786L | Missense | 14/16 | - | 1 |
17-43004366-C-T | c.2357G>A | p.R786H | Missense | 14/16 | - | 1 |
17-43004367-G-A | c.2356C>T | p.R786C | Missense | 14/16 | - | 1 |
17-43004371-C-T | c.2352G>A | p.K784= | Synonymous | 14/16 | - | 3 |
17-43004377-G-T | c.2346C>A | p.C782* | Nonsense | 14/16 | - | 1 |
17-43004382-C-A | c.2341G>T | p.A781S | Missense | 14/16 | - | 1 |
17-43004389-C-A | c.2334G>T | p.G778= | Synonymous | 14/16 | - | 1 |
17-43004389-C-G | c.2334G>C | p.G778= | Synonymous | 14/16 | - | 1 |
17-43004389-C-T | c.2334G>A | p.G778= | Synonymous | 14/16 | - | 1 |
17-43004390-C-G | c.2333G>C | p.G778A | Missense | 14/16 | - | 1 |
17-43004393-G-T | c.2330C>A | p.P777H | Missense | 14/16 | - | 1 |
17-43004394-G-A | c.2329C>T | p.P777S | Missense | 14/16 | - | 1 |
17-43004399-G-A | c.2324C>T | p.S775F | Missense | 14/16 | - | 3 |
17-43004402-G-A | c.2321C>T | p.S774F | Missense | 14/16 | - | 1 |
17-43004409-G-A | c.2314C>T | p.P772S | Missense | 14/16 | - | 4 |
17-43004422-C-A | c.2301G>T | p.M767I | Missense | 14/16 | - | 1 |
17-43004422-C-G | c.2301G>C | p.M767I | Missense | 14/16 | - | 1 |
17-43004422-C-T | c.2301G>A | p.M767I | Missense | 14/16 | - | 1 |
17-43004426-G-A | c.2297C>T | p.T766I | Missense | 14/16 | - | 2 |
17-43004436-G-A | c.2287C>T | p.P763S | Missense | 14/16 | - | 7 |
17-43004439-C-G | c.2284G>C | p.V762L | Missense | 14/16 | - | 1 |
17-43004441-G-A | c.2282C>T | p.P761L | Missense | 14/16 | - | 1 |
17-43004445-C-G | c.2278G>C | p.A760P | Missense | 14/16 | - | 1 |
17-43004541-G-T | c.2277-95C>A | - | IntronicSNV | - | 13/15 | 3 |
17-43005398-G-T | c.2272C>A | p.P758T | Missense | 13/16 | - | 1 |
17-43005405-G-A | c.2265C>T | p.P755= | Synonymous | 13/16 | - | 1 |
17-43005405-G-C | c.2265C>G | p.P755= | Synonymous | 13/16 | - | 1 |
17-43005405-G-T | c.2265C>A | p.P755= | Synonymous | 13/16 | - | 1 |
17-43005412-T-C | c.2258A>G | p.D753G | Missense | 13/16 | - | 1 |
17-43005413-C-T | c.2257G>A | p.D753N | Missense | 13/16 | - | 1 |
17-43005428-C-G | c.2242G>C | p.E748Q | Missense | 13/16 | - | 2 |
17-43005434-G-T | c.2236C>A | p.P746T | Missense | 13/16 | - | 1 |
17-43005445-C-A | c.2225G>T | p.W742L | Missense | 13/16 | - | 1 |
17-43005458-C-A | c.2212G>T | p.E738* | Nonsense | 13/16 | - | 1 |
17-43005466-C-G | c.2204G>C | p.S735T | Missense | 13/16 | - | 1 |
17-43005466-C-T | c.2204G>A | p.S735N | Missense | 13/16 | - | 1 |
17-43005472-T-A | c.2198A>T | p.K733M | Missense | 13/16 | - | 1 |
17-43005482-G-A | c.2188C>T | p.P730S | Missense | 13/16 | - | 1 |
17-43005492-G-A | c.2178C>T | p.L726= | Synonymous | 13/16 | - | 1 |
17-43005492-G-C | c.2178C>G | p.L726= | Synonymous | 13/16 | - | 1 |
17-43005492-G-T | c.2178C>A | p.L726= | Synonymous | 13/16 | - | 1 |
17-43005518-G-A | c.2152C>T | p.R718* | Nonsense | 13/16 | - | 4 |
17-43005520-G-A | c.2150C>T | p.T717I | Missense | 13/16 | - | 2 |
17-43005534-C-A | c.2136G>T | p.P712= | Synonymous | 13/16 | - | 1 |
17-43005534-C-G | c.2136G>C | p.P712= | Synonymous | 13/16 | - | 1 |
17-43005534-C-T | c.2136G>A | p.P712= | Synonymous | 13/16 | - | 1 |
17-43005535-G-A | c.2135C>T | p.P712L | Missense | 13/16 | - | 2 |
17-43005543-G-A | c.2127C>T | p.C709= | Synonymous | 13/16 | - | 2 |
17-43005549-C-A | c.2121G>T | p.Q707H | Missense | 13/16 | - | 1 |
17-43005554-T-C | c.2116A>G | p.M706V | Missense | 13/16 | - | 1 |
17-43005556-G-A | c.2114C>T | p.A705V | Missense | 13/16 | - | 3 |
17-43005557-C-T | c.2113G>A | p.A705T | Missense | 13/16 | - | 2 |
17-43005561-A-C | c.2109T>G | p.P703= | Synonymous | 13/16 | - | 1 |
17-43005561-A-G | c.2109T>C | p.P703= | Synonymous | 13/16 | - | 1 |
17-43005561-A-T | c.2109T>A | p.P703= | Synonymous | 13/16 | - | 1 |
17-43005562-G-A | c.2108C>T | p.P703L | Missense | 13/16 | - | 2 |
17-43005563-G-A | c.2107C>T | p.P703S | Missense | 13/16 | - | 1 |
17-43005565-C-A | c.2105G>T | p.G702V | Missense | 13/16 | - | 1 |
17-43005565-C-G | c.2105G>C | p.G702A | Missense | 13/16 | - | 1 |
17-43005570-G-A | c.2100C>T | p.P700= | Synonymous | 13/16 | - | 1 |
17-43005579-G-A | c.2091C>T | p.S697= | Synonymous | 13/16 | - | 3 |
17-43005580-C-A | c.2090G>T | p.S697I | Missense | 13/16 | - | 1 |
17-43005580-C-T | c.2090G>A | p.S697N | Missense | 13/16 | - | 1 |
17-43005598-G-A | c.2072C>T | p.P691L | Missense | 13/16 | - | 1 |
17-43005600-G-A | c.2070C>T | p.C690= | Synonymous | 13/16 | - | 1 |
17-43005601-C-G | c.2069G>C | p.C690S | Missense | 13/16 | - | 1 |
17-43005602-A-T | c.2068T>A | p.C690S | Missense | 13/16 | - | 1 |
17-43005605-C-T | c.2065G>A | p.V689I | Missense | 13/16 | - | 2 |
17-43005607-C-T | c.2063G>A | p.R688H | Missense | 13/16 | - | 1 |
17-43005610-G-C | c.2060C>G | p.P687R | Missense | 13/16 | - | 3 |
17-43005611-G-A | c.2059C>T | p.P687S | Missense | 13/16 | - | 1 |
17-43005612-G-A | c.2058C>T | p.S686= | Synonymous | 13/16 | - | 1 |
17-43005612-G-C | c.2058C>G | p.S686= | Synonymous | 13/16 | - | 1 |
17-43005612-G-T | c.2058C>A | p.S686= | Synonymous | 13/16 | - | 1 |
17-43005617-G-A | c.2053C>T | p.H685Y | Missense | 13/16 | - | 2 |
17-43005620-CA-C | c.2050del | p.C684Afs*66 | Frameshift | 13/16 | - | 3 |
17-43005624-G-A | c.2046C>T | p.S682= | Synonymous | 13/16 | - | 2 |
17-43005624-G-C | c.2046C>G | p.S682= | Synonymous | 13/16 | - | 2 |
17-43005624-G-T | c.2046C>A | p.S682= | Synonymous | 13/16 | - | 2 |
17-43005620-AG-A | c.2049del | p.C684Afs*66 | Frameshift | 13/16 | - | 1 |
17-43005627-G-A | c.2043C>T | p.S681= | Synonymous | 13/16 | - | 2 |
17-43005631-G-T | c.2039C>A | p.A680D | Missense | 13/16 | - | 1 |
17-43005634-CT-TG | c.2035_2036delinsCA | p.R679Q | Missense | 13/16 | - | 1 |
17-43005637-T-C | c.2033A>G | p.E678G | Missense | 13/16 | - | 1 |
17-43005640-C-G | c.2030G>C | p.G677A | Missense | 13/16 | - | 6 |
17-43005646-G-A | c.2024C>T | p.P675L | Missense | 13/16 | - | 1 |
17-43005646-G-C | c.2024C>G | p.P675R | Missense | 13/16 | - | 6 |
17-43005648-G-A | c.2022C>T | p.T674= | Synonymous | 13/16 | - | 1 |
17-43005648-G-C | c.2022C>G | p.T674= | Synonymous | 13/16 | - | 1 |
17-43005648-G-T | c.2022C>A | p.T674= | Synonymous | 13/16 | - | 1 |
17-43005655-G-A | c.2015C>T | p.P672L | Missense | 13/16 | - | 3 |
17-43005671-G-A | c.1999C>T | p.Q667* | Nonsense | 13/16 | - | 1 |
17-43005673-G-A | c.1997C>T | p.T666I | Missense | 13/16 | - | 3 |
17-43005679-GG-AT | c.1990_1991delinsAT | p.P664I | Missense | 13/16 | - | 1 |
17-43005680-G-A | c.1990C>T | p.P664S | Missense | 13/16 | - | 1 |
17-43005683-G-C | c.1987C>G | p.L663V | Missense | 13/16 | - | 1 |
17-43005684-A-C | c.1986T>G | p.S662= | Synonymous | 13/16 | - | 1 |
17-43005684-A-G | c.1986T>C | p.S662= | Synonymous | 13/16 | - | 1 |
17-43005684-A-T | c.1986T>A | p.S662= | Synonymous | 13/16 | - | 1 |
17-43005695-T-C | c.1975A>G | p.R659G | Missense | 13/16 | - | 1 |
17-43005705-C-A | c.1965G>T | p.L655= | Synonymous | 13/16 | - | 1 |
17-43005707-G-A | c.1963C>T | p.L655= | Synonymous | 13/16 | - | 1 |
17-43005708-G-A | c.1962C>T | p.F654= | Synonymous | 13/16 | - | 1 |
17-43005722-G-T | c.1948C>A | p.Q650K | Missense | 13/16 | - | 1 |
17-43005735-C-T | c.1935G>A | p.R645= | Synonymous | 13/16 | - | 2 |
17-43005737-G-T | c.1933C>A | p.R645= | Synonymous | 13/16 | - | 1 |
17-43005738-C-T | c.1932G>A | p.K644= | Synonymous | 13/16 | - | 1 |
17-43005739-T-A | c.1931A>T | p.K644M | Missense | 13/16 | - | 1 |
17-43005749-ATGG-A | c.1919_1921del | p.P640_M641delinsL | MultiAAMissense | 13/16 | - | 1 |
17-43005754-C-T | c.1916G>A | p.S639N | Missense | 13/16 | - | 1 |
17-43005765-C-A | c.1905G>T | p.L635F | Missense | 13/16 | - | 1 |
17-43005765-C-G | c.1905G>C | p.L635F | Missense | 13/16 | - | 1 |
17-43005769-G-T | c.1901C>A | p.A634D | Missense | 13/16 | - | 1 |
17-43005770-C-T | c.1900G>A | p.A634T | Missense | 13/16 | - | 2 |
17-43005776-G-A | c.1894C>T | p.P632S | Missense | 13/16 | - | 1 |
17-43005777-T-C | c.1893A>G | p.R631= | Synonymous | 13/16 | - | 1 |
17-43005779-T-G | c.1891A>C | p.R631= | Synonymous | 13/16 | - | 1 |
17-43005779-T-A | c.1891A>T | p.R631* | Nonsense | 13/16 | - | 1 |
17-43005784-C-T | c.1886G>A | p.R629K | Missense | 13/16 | - | 1 |
17-43005784-CTCT-C | c.1883_1885del | p.K628del | InFrameDeletion | 13/16 | - | 1 |
17-43005794-C-T | c.1876G>A | p.E626K | Missense | 13/16 | - | 1 |
17-43005800-G-A | c.1870C>T | p.P624S | Missense | 13/16 | - | 1 |
17-43005805-C-T | c.1865G>A | p.R622Q | Missense | 13/16 | - | 1 |
17-43005808-G-A | c.1862C>T | p.S621F | Missense | 13/16 | - | 2 |
17-43005813-C-A | c.1857G>T | p.Q619H | Missense | 13/16 | - | 1 |
17-43005813-C-G | c.1857G>C | p.Q619H | Missense | 13/16 | - | 1 |
17-43005823-G-GT | c.1846dup | p.T616Nfs*50 | Frameshift | 13/16 | - | 1 |
17-43005834-TC-GT | c.1835_1836delinsAC | p.G612D | Missense | 13/16 | - | 1 |
17-43005844-A-T | c.1826T>A | p.I609N | Missense | 13/16 | - | 1 |
17-43005854-T-C | c.1816A>G | p.T606A | Missense | 13/16 | - | 1 |
17-43005857-G-A | c.1813C>T | p.H605Y | Missense | 13/16 | - | 1 |
17-43005862-G-A | c.1808C>T | p.P603L | Missense | 13/16 | - | 1 |
17-43005863-G-A | c.1807C>T | p.P603S | Missense | 13/16 | - | 1 |
17-43005869-T-C | c.1801A>G | p.S601G | Missense | 13/16 | - | 1 |
17-43005871-A-T | c.1799T>A | p.L600Q | Missense | 13/16 | - | 1 |
17-43005872-G-T | c.1798C>A | p.L600M | Missense | 13/16 | - | 1 |
17-43005875-G-A | c.1795C>T | p.R599* | Nonsense | 13/16 | - | 2 |
17-43005889-C-T | c.1781G>A | p.R594Q | Missense | 13/16 | - | 1 |
17-43005903-A-C | c.1767T>G | p.T589= | Synonymous | 13/16 | - | 1 |
17-43005903-A-G | c.1767T>C | p.T589= | Synonymous | 13/16 | - | 1 |
17-43005903-A-T | c.1767T>A | p.T589= | Synonymous | 13/16 | - | 1 |
17-43005908-A-C | c.1762T>G | p.Y588D | Missense | 13/16 | - | 1 |
17-43005912-TG-AT | c.1757_1758delinsAT | p.P586H | Missense | 13/16 | - | 1 |
17-43005917-G-A | c.1753C>T | p.P585S | Missense | 13/16 | - | 1 |
17-43005929-G-A | c.1741C>T | p.L581F | Missense | 13/16 | - | 1 |
17-43005932-G-A | c.1738C>T | p.P580S | Missense | 13/16 | - | 1 |
17-43005942-A-G | c.1728T>C | p.P576= | Synonymous | 13/16 | - | 1 |
17-43005943-G-A | c.1727C>T | p.P576L | Missense | 13/16 | - | 1 |
17-43005943-G-GC | c.1726_1727insG | p.P576Rfs*90 | Frameshift | 13/16 | - | 1 |
17-43006197-A-G | c.1713T>C | p.C571= | Synonymous | 12/16 | - | 1 |
17-43006202-G-A | c.1708C>T | p.L570= | Synonymous | 12/16 | - | 1 |
17-43006205-C-G | c.1705G>C | p.E569Q | Missense | 12/16 | - | 1 |
17-43006217-G-A | c.1693C>T | p.P565S | Missense | 12/16 | - | 2 |
17-43006220-C-T | c.1690G>A | p.A564T | Missense | 12/16 | - | 1 |
17-43006221-C-A | c.1689G>T | p.G563= | Synonymous | 12/16 | - | 1 |
17-43006221-C-G | c.1689G>C | p.G563= | Synonymous | 12/16 | - | 1 |
17-43006221-C-T | c.1689G>A | p.G563= | Synonymous | 12/16 | - | 1 |
17-43006223-C-A | c.1687G>T | p.G563W | Missense | 12/16 | - | 1 |
17-43006225-CT-TG | c.1684_1685delinsCA | p.R562Q | Missense | 12/16 | - | 2 |
17-43006235-C-G | c.1675G>C | p.G559R | Missense | 12/16 | - | 1 |
17-43006241-T-G | c.1669A>C | p.T557P | Missense | 12/16 | - | 1 |
17-43006243-C-A | c.1667G>T | p.R556M | Missense | 12/16 | - | 1 |
17-43006259-C-A | c.1651G>T | p.G551W | Missense | 12/16 | - | 1 |
17-43006266-A-T | c.1644T>A | p.I548= | Synonymous | 12/16 | - | 1 |
17-43006267-A-AT | c.1642dup | p.I548Nfs*2 | Frameshift | 12/16 | - | 1 |
17-43006276-T-C | c.1634A>G | p.E545G | Missense | 12/16 | - | 1 |
17-43006276-T-G | c.1634A>C | p.E545A | Missense | 12/16 | - | 1 |
17-43006277-C-T | c.1633G>A | p.E545K | Missense | 12/16 | - | 4 |
17-43006278-T-C | c.1632A>G | p.Q544= | Synonymous | 12/16 | - | 1 |
17-43006288-T-C | c.1622A>G | p.Q541R | Missense | 12/16 | - | 1 |
17-43006289-G-A | c.1621C>T | p.Q541* | Nonsense | 12/16 | - | 1 |
17-43006317-G-C | c.1593C>G | p.D531E | Missense | 12/16 | - | 1 |
17-43006317-G-T | c.1593C>A | p.D531E | Missense | 12/16 | - | 1 |
17-43006318-T-C | c.1592A>G | p.D531G | Missense | 12/16 | - | 1 |
17-43006320-G-A | c.1590C>T | p.P530= | Synonymous | 12/16 | - | 1 |
17-43006320-G-C | c.1590C>G | p.P530= | Synonymous | 12/16 | - | 1 |
17-43006320-G-T | c.1590C>A | p.P530= | Synonymous | 12/16 | - | 1 |
17-43006337-C-T | c.1573G>A | p.A525T | Missense | 12/16 | - | 1 |
17-43006340-C-T | c.1570G>A | p.A524T | Missense | 12/16 | - | 1 |
17-43006343-G-A | c.1567C>T | p.Q523* | Nonsense | 12/16 | - | 1 |
17-43006344-G-A | c.1566C>T | p.L522= | Synonymous | 12/16 | - | 2 |
17-43006350-G-A | c.1560C>T | p.S520= | Synonymous | 12/16 | - | 3 |
17-43006350-G-C | c.1560C>G | p.S520= | Synonymous | 12/16 | - | 1 |
17-43006350-G-T | c.1560C>A | p.S520= | Synonymous | 12/16 | - | 1 |
17-43006351-G-A | c.1559C>T | p.S520F | Missense | 12/16 | - | 1 |
17-43006357-T-C | c.1553A>G | p.Q518R | Missense | 12/16 | - | 7 |
17-43006370-C-T | c.1540G>A | p.V514I | Missense | 12/16 | - | 2 |
17-43006374-C-A | c.1536G>T | p.L512= | Synonymous | 12/16 | - | 1 |
17-43006378-A-G | c.1532T>C | p.V511A | Missense | 12/16 | - | 3 |
17-43006387-G-A | c.1523C>T | p.A508V | Missense | 12/16 | - | 1 |
17-43006388-C-T | c.1522G>A | p.A508T | Missense | 12/16 | - | 1 |
17-43006389-C-T | c.1521G>A | p.L507= | Synonymous | 12/16 | - | 1 |
17-43006391-A-G | c.1519T>C | p.L507= | Synonymous | 12/16 | - | 1 |
17-43006411-G-T | c.1518-19C>A | - | IntronicSNV | - | 11/15 | 1 |
17-43007951-T-C | c.1517+1019A>G | - | IntronicSNV | - | 11/15 | 1 |
17-43008905-C-A | c.1517+65G>T | - | IntronicSNV | - | 11/15 | 2 |
17-43008970-T-C | c.1517A>G | p.Q506R | Missense | 11/16 | - | 8 |
17-43008970-T-G | c.1517A>C | p.Q506P | Missense | 11/16 | - | 4 |
17-43008975-A-G | c.1512T>C | p.S504= | Synonymous | 11/16 | - | 1 |
17-43008976-G-A | c.1511C>T | p.S504F | Missense | 11/16 | - | 1 |
17-43008979-C-T | c.1508G>A | p.R503H | Missense | 11/16 | - | 3 |
17-43008980-G-A | c.1507C>T | p.R503C | Missense | 11/16 | - | 2 |
17-43008985-C-T | c.1502G>A | p.G501E | Missense | 11/16 | - | 3 |
17-43008989-C-T | c.1498G>A | p.D500N | Missense | 11/16 | - | 1 |
17-43008997-C-T | c.1490G>A | p.R497Q | Missense | 11/16 | - | 1 |
17-43009011-GC-CT | c.1475_1476delinsAG | p.G492E | Missense | 11/16 | - | 1 |
17-43009018-A-G | c.1469T>C | p.V490A | Missense | 11/16 | - | 1 |
17-43009022-G-A | c.1465C>T | p.P489S | Missense | 11/16 | - | 2 |
17-43009027-G-A | c.1460C>T | p.P487L | Missense | 11/16 | - | 1 |
17-43009029-C-T | c.1458G>A | p.Q486= | Synonymous | 11/16 | - | 1 |
17-43009043-G-A | c.1444C>T | p.R482C | Missense | 11/16 | - | 1 |
17-43009044-A-C | c.1443T>G | p.P481= | Synonymous | 11/16 | - | 1 |
17-43009044-A-G | c.1443T>C | p.P481= | Synonymous | 11/16 | - | 1 |
17-43009044-A-T | c.1443T>A | p.P481= | Synonymous | 11/16 | - | 1 |
17-43009046-G-A | c.1441C>T | p.P481S | Missense | 11/16 | - | 3 |
17-43009055-G-A | c.1432C>T | p.P478S | Missense | 11/16 | - | 1 |
17-43009056-C-A | c.1431G>T | p.L477= | Synonymous | 11/16 | - | 1 |
17-43009056-C-G | c.1431G>C | p.L477= | Synonymous | 11/16 | - | 1 |
17-43009056-C-T | c.1431G>A | p.L477= | Synonymous | 11/16 | - | 1 |
17-43009058-G-A | c.1429C>T | p.L477= | Synonymous | 11/16 | - | 1 |
17-43009065-T-A | c.1422A>T | p.T474= | Synonymous | 11/16 | - | 1 |
17-43009066-G-A | c.1421C>T | p.T474I | Missense | 11/16 | - | 1 |
17-43009069-G-A | c.1418C>T | p.P473L | Missense | 11/16 | - | 1 |
17-43009079-C-T | c.1408G>A | p.E470K | Missense | 11/16 | - | 2 |
17-43009082-G-A | c.1405C>T | p.P469S | Missense | 11/16 | - | 3 |
17-43009090-GT-CA | c.1396_1397delinsTG | p.T466C | Missense | 11/16 | - | 1 |
17-43009093-G-A | c.1394C>T | p.P465L | Missense | 11/16 | - | 1 |
17-43009097-C-A | c.1390G>T | p.V464F | Missense | 11/16 | - | 1 |
17-43009217-G-A | c.1390-120C>T | - | IntronicSNV | - | 10/15 | 1 |
17-43009429-C-T | c.1384G>A | p.E462K | Missense | 10/16 | - | 1 |
17-43009431-G-A | c.1382C>T | p.A461V | Missense | 10/16 | - | 1 |
17-43009435-G-A | c.1378C>T | p.P460S | Missense | 10/16 | - | 3 |
17-43009444-C-T | c.1369G>A | p.D457N | Missense | 10/16 | - | 2 |
17-43009457-G-A | c.1356C>T | p.S452= | Synonymous | 10/16 | - | 3 |
17-43009457-G-C | c.1356C>G | p.S452= | Synonymous | 10/16 | - | 1 |
17-43009457-G-T | c.1356C>A | p.S452= | Synonymous | 10/16 | - | 1 |
17-43009464-TC-AT | c.1348_1349delinsAT | p.E450M | Missense | 10/16 | - | 2 |
17-43009465-C-T | c.1348G>A | p.E450K | Missense | 10/16 | - | 5 |
17-43009471-C-G | c.1342G>C | p.D448H | Missense | 10/16 | - | 1 |
17-43009473-G-A | c.1340C>T | p.S447L | Missense | 10/16 | - | 1 |
17-43009476-G-A | c.1337C>T | p.S446F | Missense | 10/16 | - | 4 |
17-43009476-G-T | c.1337C>A | p.S446Y | Missense | 10/16 | - | 1 |
17-43009493-C-T | c.1320G>A | p.R440= | Synonymous | 10/16 | - | 1 |
17-43009495-T-G | c.1318A>C | p.R440= | Synonymous | 10/16 | - | 1 |
17-43009501-C-T | c.1312G>A | p.V438M | Missense | 10/16 | - | 3 |
17-43009504-G-A | c.1309C>T | p.Q437* | Nonsense | 10/16 | - | 1 |
17-43009505-G-A | c.1308C>T | p.A436= | Synonymous | 10/16 | - | 1 |
17-43009505-G-C | c.1308C>G | p.A436= | Synonymous | 10/16 | - | 1 |
17-43009505-G-T | c.1308C>A | p.A436= | Synonymous | 10/16 | - | 1 |
17-43009506-G-T | c.1307C>A | p.A436D | Missense | 10/16 | - | 1 |
17-43009516-C-G | c.1297G>C | p.G433R | Missense | 10/16 | - | 1 |
17-43009516-C-T | c.1297G>A | p.G433R | Missense | 10/16 | - | 1 |
17-43009517-C-A | c.1296G>T | p.L432= | Synonymous | 10/16 | - | 2 |
17-43009517-C-G | c.1296G>C | p.L432= | Synonymous | 10/16 | - | 2 |
17-43009517-C-T | c.1296G>A | p.L432= | Synonymous | 10/16 | - | 2 |
17-43009519-G-A | c.1294C>T | p.L432= | Synonymous | 10/16 | - | 2 |
17-43009526-C-T | c.1287G>A | p.E429= | Synonymous | 10/16 | - | 1 |
17-43009538-T-C | c.1275A>G | p.R425= | Synonymous | 10/16 | - | 1 |
17-43009540-T-G | c.1273A>C | p.R425= | Synonymous | 10/16 | - | 1 |
17-43009539-C-G | c.1274G>C | p.R425T | Missense | 10/16 | - | 1 |
17-43009543-G-A | c.1270C>T | p.P424S | Missense | 10/16 | - | 3 |
17-43009545-C-T | c.1268G>A | p.G423E | Missense | 10/16 | - | 4 |
17-43009553-G-A | c.1260C>T | p.L420= | Synonymous | 10/16 | - | 2 |
17-43009553-G-C | c.1260C>G | p.L420= | Synonymous | 10/16 | - | 2 |
17-43009553-G-T | c.1260C>A | p.L420= | Synonymous | 10/16 | - | 2 |
17-43009560-G-A | c.1253C>T | p.P418L | Missense | 10/16 | - | 4 |
17-43009561-G-A | c.1252C>T | p.P418S | Missense | 10/16 | - | 2 |
17-43009562-GG-CA | c.1250_1251delinsTG | p.T417M | Missense | 10/16 | - | 1 |
17-43009566-CA-GT | c.1246_1247delinsAC | p.C416T | Missense | 10/16 | - | 1 |
17-43009566-C-T | c.1247G>A | p.C416Y | Missense | 10/16 | - | 1 |
17-43009571-C-A | c.1242G>T | p.Q414H | Missense | 10/16 | - | 1 |
17-43009571-C-G | c.1242G>C | p.Q414H | Missense | 10/16 | - | 1 |
17-43009571-C-T | c.1242G>A | p.Q414= | Synonymous | 10/16 | - | 1 |
17-43009573-G-T | c.1240C>A | p.Q414K | Missense | 10/16 | - | 1 |
17-43009797-C-A | c.1239-223G>T | - | IntronicSNV | - | 9/15 | 2 |
17-43009886-G-A | c.1238+155C>T | - | IntronicSNV | - | 9/15 | 3 |
17-43010040-C-A | c.1238+1G>T | - | IntronicSNV | - | 9/15 | 1 |
17-43010042-G-C | c.1237C>G | p.H413D | Missense | 9/16 | - | 1 |
17-43010045-C-T | c.1234G>A | p.E412K | Missense | 9/16 | - | 5 |
17-43010051-G-C | c.1228C>G | p.P410A | Missense | 9/16 | - | 1 |
17-43010053-G-A | c.1226C>T | p.P409L | Missense | 9/16 | - | 2 |
17-43010053-G-C | c.1226C>G | p.P409R | Missense | 9/16 | - | 1 |
17-43010054-G-A | c.1225C>T | p.P409S | Missense | 9/16 | - | 1 |
17-43010056-C-G | c.1223G>C | p.G408A | Missense | 9/16 | - | 3 |
17-43010059-G-T | c.1220C>A | p.S407* | Nonsense | 9/16 | - | 1 |
17-43010064-G-A | c.1215C>T | p.P405= | Synonymous | 9/16 | - | 4 |
17-43010073-T-A | c.1206A>T | p.P402= | Synonymous | 9/16 | - | 1 |
17-43010073-T-C | c.1206A>G | p.P402= | Synonymous | 9/16 | - | 1 |
17-43010073-T-G | c.1206A>C | p.P402= | Synonymous | 9/16 | - | 1 |
17-43010088-T-A | c.1191A>T | p.P397= | Synonymous | 9/16 | - | 1 |
17-43010091-G-A | c.1188C>T | p.P396= | Synonymous | 9/16 | - | 5 |
17-43010091-G-C | c.1188C>G | p.P396= | Synonymous | 9/16 | - | 1 |
17-43010091-G-T | c.1188C>A | p.P396= | Synonymous | 9/16 | - | 1 |
17-43010092-G-A | c.1187C>T | p.P396L | Missense | 9/16 | - | 1 |
17-43010093-G-A | c.1186C>T | p.P396S | Missense | 9/16 | - | 1 |
17-43010101-C-A | c.1178G>T | p.G393V | Missense | 9/16 | - | 1 |
17-43010105-C-G | c.1174G>C | p.G392R | Missense | 9/16 | - | 1 |
17-43010105-C-T | c.1174G>A | p.G392R | Missense | 9/16 | - | 1 |
17-43010100-TC-T | c.1178del | p.G393Efs*91 | Frameshift | 9/16 | - | 2 |
17-43010100-T-TC | c.1178dup | p.G394Rfs*32 | Frameshift | 9/16 | - | 1 |
17-43010108-C-A | c.1171G>T | p.E391* | Nonsense | 9/16 | - | 2 |
17-43010128-C-A | c.1151G>T | p.R384M | Missense | 9/16 | - | 1 |
17-43010128-C-T | c.1151G>A | p.R384K | Missense | 9/16 | - | 1 |
17-43010134-G-T | c.1145C>A | p.A382D | Missense | 9/16 | - | 3 |
17-43010136-G-T | c.1143C>A | p.A381= | Synonymous | 9/16 | - | 1 |
17-43010212-C-T | c.1137+68G>A | - | IntronicSNV | - | 8/15 | 1 |
17-43010309-C-T | c.1108G>A | p.A370T | Missense | 8/16 | - | 1 |
17-43010319-G-A | c.1098C>T | p.I366= | Synonymous | 8/16 | - | 1 |
17-43010325-A-G | c.1092T>C | p.C364= | Synonymous | 8/16 | - | 1 |
17-43010328-G-A | c.1089C>T | p.D363= | Synonymous | 8/16 | - | 1 |
17-43010330-C-G | c.1087G>C | p.D363H | Missense | 8/16 | - | 1 |
17-43010330-C-T | c.1087G>A | p.D363N | Missense | 8/16 | - | 1 |
17-43010334-G-A | c.1083C>T | p.S361= | Synonymous | 8/16 | - | 1 |
17-43010335-C-T | c.1082G>A | p.S361N | Missense | 8/16 | - | 2 |
17-43010347-C-T | c.1070G>A | p.S357N | Missense | 8/16 | - | 1 |
17-43010352-C-T | c.1065G>A | p.L355= | Synonymous | 8/16 | - | 1 |
17-43011282-G-C | c.1062+9C>G | - | IntronicSNV | - | 7/15 | 1 |
17-43011294-G-A | c.1059C>T | p.L353= | Synonymous | 7/16 | - | 2 |
17-43011294-G-C | c.1059C>G | p.L353= | Synonymous | 7/16 | - | 2 |
17-43011294-G-T | c.1059C>A | p.L353= | Synonymous | 7/16 | - | 2 |
17-43011300-G-A | c.1053C>T | p.I351= | Synonymous | 7/16 | - | 1 |
17-43011300-G-T | c.1053C>A | p.I351= | Synonymous | 7/16 | - | 1 |
17-43011302-T-C | c.1051A>G | p.I351V | Missense | 7/16 | - | 1 |
17-43011303-C-A | c.1050G>T | p.E350D | Missense | 7/16 | - | 2 |
17-43011303-C-G | c.1050G>C | p.E350D | Missense | 7/16 | - | 2 |
17-43011311-C-T | c.1042G>A | p.A348T | Missense | 7/16 | - | 1 |
17-43011313-C-A | c.1040G>T | p.R347L | Missense | 7/16 | - | 1 |
17-43011319-G-A | c.1034C>T | p.A345V | Missense | 7/16 | - | 1 |
17-43011327-G-A | c.1026C>T | p.L342= | Synonymous | 7/16 | - | 1 |
17-43011327-G-C | c.1026C>G | p.L342= | Synonymous | 7/16 | - | 1 |
17-43011327-G-T | c.1026C>A | p.L342= | Synonymous | 7/16 | - | 1 |
17-43011331-G-C | c.1022C>G | p.T341S | Missense | 7/16 | - | 1 |
17-43011334-T-C | c.1019A>G | p.N340S | Missense | 7/16 | - | 1 |
17-43011339-C-T | c.1014G>A | p.T338= | Synonymous | 7/16 | - | 1 |
17-43011340-G-A | c.1013C>T | p.T338M | Missense | 7/16 | - | 1 |
17-43011345-C-T | c.1008G>A | p.E336= | Synonymous | 7/16 | - | 2 |
17-43011346-T-A | c.1007A>T | p.E336V | Missense | 7/16 | - | 1 |
17-43011347-C-G | c.1006G>C | p.E336Q | Missense | 7/16 | - | 1 |
17-43011348-G-A | c.1005C>T | p.Y335= | Synonymous | 7/16 | - | 2 |
17-43011353-T-A | c.1000A>T | p.T334S | Missense | 7/16 | - | 1 |
17-43011357-G-A | c.996C>T | p.S332= | Synonymous | 7/16 | - | 1 |
17-43011361-G-A | c.992C>T | p.S331F | Missense | 7/16 | - | 5 |
17-43011371-T-C | c.982A>G | p.I328V | Missense | 7/16 | - | 1 |
17-43011380-T-A | c.973A>T | p.I325F | Missense | 7/16 | - | 7 |
17-43011383-T-C | c.970A>G | p.M324V | Missense | 7/16 | - | 1 |
17-43011388-G-A | c.965C>T | p.T322I | Missense | 7/16 | - | 2 |
17-43011389-T-C | c.964A>G | p.T322A | Missense | 7/16 | - | 3 |
17-43011390-G-A | c.963C>T | p.R321= | Synonymous | 7/16 | - | 1 |
17-43011390-G-C | c.963C>G | p.R321= | Synonymous | 7/16 | - | 1 |
17-43011390-G-T | c.963C>A | p.R321= | Synonymous | 7/16 | - | 1 |
17-43011391-C-T | c.962G>A | p.R321H | Missense | 7/16 | - | 2 |
17-43011392-G-A | c.961C>T | p.R321C | Missense | 7/16 | - | 1 |
17-43011394-C-A | c.959G>T | p.C320F | Missense | 7/16 | - | 1 |
17-43011396-G-A | c.957C>T | p.N319= | Synonymous | 7/16 | - | 1 |
17-43011399-G-GC | c.953dup | p.N319Qfs*61 | Frameshift | 7/16 | - | 1 |
17-43011404-C-T | c.949G>A | p.G317R | Missense | 7/16 | - | 1 |
17-43011405-G-A | c.948C>T | p.L316= | Synonymous | 7/16 | - | 1 |
17-43011408-G-A | c.945C>T | p.S315= | Synonymous | 7/16 | - | 4 |
17-43011424-C-T | c.929G>A | p.R310H | Missense | 7/16 | - | 2 |
17-43011440-C-G | c.913G>C | p.D305H | Missense | 7/16 | - | 1 |
17-43011447-G-A | c.906C>T | p.P302= | Synonymous | 7/16 | - | 1 |
17-43011447-G-C | c.906C>G | p.P302= | Synonymous | 7/16 | - | 1 |
17-43011447-G-T | c.906C>A | p.P302= | Synonymous | 7/16 | - | 1 |
17-43011448-G-A | c.905C>T | p.P302L | Missense | 7/16 | - | 2 |
17-43011452-C-T | c.901G>A | p.V301M | Missense | 7/16 | - | 1 |
17-43011455-G-A | c.898C>T | p.H300Y | Missense | 7/16 | - | 1 |
17-43011457-G-T | c.896C>A | p.T299N | Missense | 7/16 | - | 1 |
17-43011570-C-A | c.885+31G>T | - | IntronicSNV | - | 6/15 | 1 |
17-43011600-C-A | c.885+1G>T | - | IntronicSNV | - | 6/15 | 1 |
17-43011610-G-A | c.876C>T | p.A292= | Synonymous | 6/16 | - | 5 |
17-43011610-G-C | c.876C>G | p.A292= | Synonymous | 6/16 | - | 2 |
17-43011610-G-T | c.876C>A | p.A292= | Synonymous | 6/16 | - | 2 |
17-43011627-C-A | c.859G>T | p.V287F | Missense | 6/16 | - | 1 |
17-43011637-C-A | c.849G>T | p.A283= | Synonymous | 6/16 | - | 1 |
17-43011637-C-G | c.849G>C | p.A283= | Synonymous | 6/16 | - | 1 |
17-43011637-C-T | c.849G>A | p.A283= | Synonymous | 6/16 | - | 1 |
17-43011643-C-A | c.843G>T | p.L281= | Synonymous | 6/16 | - | 1 |
17-43011643-C-G | c.843G>C | p.L281= | Synonymous | 6/16 | - | 1 |
17-43011643-C-T | c.843G>A | p.L281= | Synonymous | 6/16 | - | 1 |
17-43011645-G-A | c.841C>T | p.L281= | Synonymous | 6/16 | - | 1 |
17-43011649-GC-TT | c.836_837delinsAA | p.R279Q | Missense | 6/16 | - | 1 |
17-43011651-G-T | c.835C>A | p.R279S | Missense | 6/16 | - | 1 |
17-43011655-G-A | c.831C>T | p.I277= | Synonymous | 6/16 | - | 1 |
17-43011655-G-T | c.831C>A | p.I277= | Synonymous | 6/16 | - | 1 |
17-43011662-G-A | c.824C>T | p.A275V | Missense | 6/16 | - | 3 |
17-43011664-C-A | c.822G>T | p.G274= | Synonymous | 6/16 | - | 1 |
17-43011664-C-T | c.822G>A | p.G274= | Synonymous | 6/16 | - | 2 |
17-43011665-C-T | c.821G>A | p.G274E | Missense | 6/16 | - | 2 |
17-43011667-C-A | c.819G>T | p.E273D | Missense | 6/16 | - | 1 |
17-43011667-C-G | c.819G>C | p.E273D | Missense | 6/16 | - | 1 |
17-43011671-C-A | c.815G>T | p.R272L | Missense | 6/16 | - | 1 |
17-43011673-C-T | c.813G>A | p.L271= | Synonymous | 6/16 | - | 4 |
17-43011677-C-T | c.809G>A | p.R270Q | Missense | 6/16 | - | 4 |
17-43011678-G-A | c.808C>T | p.R270W | Missense | 6/16 | - | 1 |
17-43011680-T-C | c.806A>G | p.E269G | Missense | 6/16 | - | 1 |
17-43011681-C-T | c.805G>A | p.E269K | Missense | 6/16 | - | 4 |
17-43011680-T-TC | c.805dup | p.E269Gfs*111 | Frameshift | 6/16 | - | 1 |
17-43011685-C-G | c.801G>C | p.K267N | Missense | 6/16 | - | 1 |
17-43011693-G-T | c.793C>A | p.H265N | Missense | 6/16 | - | 1 |
17-43011694-G-A | c.792C>T | p.T264= | Synonymous | 6/16 | - | 1 |
17-43011705-C-T | c.781G>A | p.A261T | Missense | 6/16 | - | 1 |
17-43011707-C-A | c.779G>T | p.R260L | Missense | 6/16 | - | 1 |
17-43011707-C-T | c.779G>A | p.R260Q | Missense | 6/16 | - | 2 |
17-43011712-T-G | c.774A>C | p.S258= | Synonymous | 6/16 | - | 1 |
17-43011716-C-T | c.770G>A | p.G257D | Missense | 6/16 | - | 1 |
17-43011717-C-T | c.769G>A | p.G257S | Missense | 6/16 | - | 1 |
17-43011747-C-T | c.739G>A | p.V247M | Missense | 6/16 | - | 1 |
17-43011758-T-C | c.728A>G | p.Q243R | Missense | 6/16 | - | 1 |
17-43011777-G-A | c.709C>T | p.R237W | Missense | 6/16 | - | 3 |
17-43011778-G-A | c.708C>T | p.D236= | Synonymous | 6/16 | - | 1 |
17-43011792-C-T | c.694G>A | p.V232M | Missense | 6/16 | - | 1 |
17-43011796-G-A | c.690C>T | p.I230= | Synonymous | 6/16 | - | 1 |
17-43011881-G-A | c.681C>T | p.I227= | Synonymous | 5/16 | - | 1 |
17-43011886-C-T | c.676G>A | p.A226T | Missense | 5/16 | - | 1 |
17-43011894-C-T | c.668G>A | p.R223H | Missense | 5/16 | - | 1 |
17-43011895-G-A | c.667C>T | p.R223C | Missense | 5/16 | - | 1 |
17-43011896-G-A | c.666C>T | p.S222= | Synonymous | 5/16 | - | 2 |
17-43011896-G-C | c.666C>G | p.S222= | Synonymous | 5/16 | - | 1 |
17-43011896-G-T | c.666C>A | p.S222= | Synonymous | 5/16 | - | 1 |
17-43011904-T-C | c.658A>G | p.T220A | Missense | 5/16 | - | 1 |
17-43011906-G-A | c.656C>T | p.A219V | Missense | 5/16 | - | 1 |
17-43011907-C-T | c.655G>A | p.A219T | Missense | 5/16 | - | 3 |
17-43011908-G-A | c.654C>T | p.N218= | Synonymous | 5/16 | - | 10 |
17-43011909-T-C | c.653A>G | p.N218S | Missense | 5/16 | - | 1 |
17-43011920-G-T | c.642C>A | p.P214= | Synonymous | 5/16 | - | 4 |
17-43011929-C-A | c.633G>T | p.T211= | Synonymous | 5/16 | - | 1 |
17-43011929-C-G | c.633G>C | p.T211= | Synonymous | 5/16 | - | 1 |
17-43011929-C-T | c.633G>A | p.T211= | Synonymous | 5/16 | - | 1 |
17-43011933-C-T | c.629G>A | p.R210H | Missense | 5/16 | - | 1 |
17-43011934-G-A | c.628C>T | p.R210C | Missense | 5/16 | - | 2 |
17-43011939-C-T | c.623G>A | p.R208H | Missense | 5/16 | - | 1 |
17-43011941-G-A | c.621C>T | p.N207= | Synonymous | 5/16 | - | 1 |
17-43011945-C-G | c.617G>C | p.G206A | Missense | 5/16 | - | 1 |
17-43011971-C-A | c.591G>T | p.E197D | Missense | 5/16 | - | 2 |
17-43011971-C-G | c.591G>C | p.E197D | Missense | 5/16 | - | 7 |
17-43011974-G-A | c.588C>T | p.A196= | Synonymous | 5/16 | - | 1 |
17-43011977-TG-AA | c.584_585delinsTT | p.S195F | Missense | 5/16 | - | 1 |
17-43011996-G-A | c.577-11C>T | - | IntronicSNV | - | 4/15 | 1 |
17-43011996-G-C | c.577-11C>G | - | IntronicSNV | - | 4/15 | 1 |
17-43012034-C-T | c.577-49G>A | - | IntronicSNV | - | 4/15 | 1 |
17-43012077-C-T | c.577-92G>A | - | IntronicSNV | - | 4/15 | 1 |
17-43012170-G-A | c.576+29C>T | - | IntronicSNV | - | 4/15 | 1 |
17-43012170-G-T | c.576+29C>A | - | IntronicSNV | - | 4/15 | 1 |
17-43012183-G-A | c.576+16C>T | - | IntronicSNV | - | 4/15 | 2 |
17-43012200-T-C | c.575A>G | p.Q192R | Missense | 4/16 | - | 1 |
17-43012206-A-C | c.569T>G | p.F190C | Missense | 4/16 | - | 1 |
17-43012209-GA-CG | c.565_566delinsCG | p.S189R | Missense | 4/16 | - | 1 |
17-43012209-G-T | c.566C>A | p.S189Y | Missense | 4/16 | - | 2 |
17-43012214-TC-GT | c.560_561delinsAC | p.G187D | Missense | 4/16 | - | 1 |
17-43012221-A-T | c.554T>A | p.V185E | Missense | 4/16 | - | 1 |
17-43012233-T-G | c.542A>C | p.K181T | Missense | 4/16 | - | 1 |
17-43012237-C-T | c.538G>A | p.D180N | Missense | 4/16 | - | 1 |
17-43012243-C-A | c.532G>T | p.D178Y | Missense | 4/16 | - | 1 |
17-43012246-C-T | c.529G>A | p.E177K | Missense | 4/16 | - | 3 |
17-43012247-G-A | c.528C>T | p.R176= | Synonymous | 4/16 | - | 3 |
17-43012247-G-C | c.528C>G | p.R176= | Synonymous | 4/16 | - | 1 |
17-43012247-GCG-CTT | c.526_528delinsAAG | p.R176K | Missense | 4/16 | - | 1 |
17-43012247-G-T | c.528C>A | p.R176= | Synonymous | 4/16 | - | 1 |
17-43012248-C-T | c.527G>A | p.R176H | Missense | 4/16 | - | 1 |
17-43012249-G-A | c.526C>T | p.R176C | Missense | 4/16 | - | 3 |
17-43012250-G-A | c.525C>T | p.I175= | Synonymous | 4/16 | - | 1 |
17-43012257-A-G | c.518T>C | p.L173P | Missense | 4/16 | - | 1 |
17-43012262-CCC-GCT | c.511_513delinsAGC | p.G171S | Missense | 4/16 | - | 1 |
17-43012262-CC-GT | c.512_513delinsAC | p.G171D | Missense | 4/16 | - | 1 |
17-43012269-G-A | c.506C>T | p.P169L | Missense | 4/16 | - | 2 |
17-43012270-G-A | c.505C>T | p.P169S | Missense | 4/16 | - | 1 |
17-43012288-T-C | c.487A>G | p.I163V | Missense | 4/16 | - | 1 |
17-43012292-T-C | c.483A>G | p.E161= | Synonymous | 4/16 | - | 1 |
17-43012301-CAC-GAT | c.472_474delinsATC | p.V158I | Missense | 4/16 | - | 2 |
17-43012303-C-A | c.472G>T | p.V158L | Missense | 4/16 | - | 1 |
17-43012366-C-T | c.472-63G>A | - | IntronicSNV | - | 3/15 | 1 |
17-43012632-G-T | c.466C>A | p.Q156K | Missense | 3/16 | - | 1 |
17-43012637-C-T | c.461G>A | p.S154N | Missense | 3/16 | - | 1 |
17-43012639-G-A | c.459C>T | p.I153= | Synonymous | 3/16 | - | 1 |
17-43012642-G-C | c.456C>G | p.L152= | Synonymous | 3/16 | - | 2 |
17-43012650-C-T | c.448G>A | p.E150K | Missense | 3/16 | - | 3 |
17-43012651-G-A | c.447C>T | p.F149= | Synonymous | 3/16 | - | 3 |
17-43012658-T-C | c.440A>G | p.K147R | Missense | 3/16 | - | 1 |
17-43012664-T-C | c.434A>G | p.Q145R | Missense | 3/16 | - | 3 |
17-43012665-G-A | c.433C>T | p.Q145* | Nonsense | 3/16 | - | 5 |
17-43012666-C-A | c.432G>T | p.Q144H | Missense | 3/16 | - | 1 |
17-43012670-C-T | c.428G>A | p.R143H | Missense | 3/16 | - | 3 |
17-43012671-G-A | c.427C>T | p.R143C | Missense | 3/16 | - | 1 |
17-43012674-C-T | c.424G>A | p.A142T | Missense | 3/16 | - | 1 |
17-43012677-C-T | c.421G>A | p.E141K | Missense | 3/16 | - | 1 |
17-43012681-GC-TT | c.416_417delinsAA | p.R139Q | Missense | 3/16 | - | 1 |
17-43012682-C-A | c.416G>T | p.R139L | Missense | 3/16 | - | 1 |
17-43012682-C-T | c.416G>A | p.R139H | Missense | 3/16 | - | 1 |
17-43012683-G-A | c.415C>T | p.R139C | Missense | 3/16 | - | 4 |
17-43012684-C-T | c.414G>A | p.R138= | Synonymous | 3/16 | - | 1 |
17-43012685-C-T | c.413G>A | p.R138K | Missense | 3/16 | - | 1 |
17-43012694-T-A | c.404A>T | p.E135V | Missense | 3/16 | - | 1 |
17-43012698-C-T | c.400G>A | p.V134M | Missense | 3/16 | - | 1 |
17-43012707-G-A | c.391C>T | p.L131= | Synonymous | 3/16 | - | 3 |
17-43012707-G-T | c.391C>A | p.L131M | Missense | 3/16 | - | 1 |
17-43012716-ATGCC-A | c.379_382del | p.G127Sfs*4 | Frameshift | 3/16 | - | 1 |
17-43012719-C-T | c.379G>A | p.G127S | Missense | 3/16 | - | 2 |
17-43012720-G-A | c.378C>T | p.P126= | Synonymous | 3/16 | - | 1 |
17-43012727-C-T | c.371G>A | p.G124E | Missense | 3/16 | - | 1 |
17-43012728-C-G | c.370G>C | p.G124R | Missense | 3/16 | - | 2 |
17-43012728-C-T | c.370G>A | p.G124R | Missense | 3/16 | - | 2 |
17-43012735-T-A | c.363A>T | p.G121= | Synonymous | 3/16 | - | 1 |
17-43012735-T-C | c.363A>G | p.G121= | Synonymous | 3/16 | - | 1 |
17-43012735-T-G | c.363A>C | p.G121= | Synonymous | 3/16 | - | 1 |
17-43012737-C-G | c.361G>C | p.G121R | Missense | 3/16 | - | 1 |
17-43012737-C-T | c.361G>A | p.G121R | Missense | 3/16 | - | 1 |
17-43012738-C-A | c.360G>T | p.L120= | Synonymous | 3/16 | - | 1 |
17-43012740-G-A | c.358C>T | p.L120= | Synonymous | 3/16 | - | 1 |
17-43012757-C-G | c.341G>C | p.G114A | Missense | 3/16 | - | 1 |
17-43012762-C-T | c.336G>A | p.G112= | Synonymous | 3/16 | - | 1 |
17-43012764-C-G | c.334G>C | p.G112R | Missense | 3/16 | - | 2 |
17-43012764-C-T | c.334G>A | p.G112R | Missense | 3/16 | - | 4 |
17-43012765-G-A | c.333C>T | p.T111= | Synonymous | 3/16 | - | 2 |
17-43012765-G-C | c.333C>G | p.T111= | Synonymous | 3/16 | - | 2 |
17-43012765-G-T | c.333C>A | p.T111= | Synonymous | 3/16 | - | 2 |
17-43012773-C-G | c.325G>C | p.G109R | Missense | 3/16 | - | 1 |
17-43012773-C-T | c.325G>A | p.G109R | Missense | 3/16 | - | 1 |
17-43012774-G-A | c.324C>T | p.Y108= | Synonymous | 3/16 | - | 1 |
17-43012779-C-T | c.319G>A | p.A107T | Missense | 3/16 | - | 3 |
17-43012891-A-G | c.314-107T>C | - | IntronicSNV | - | 2/15 | 2 |
17-43012891-A-T | c.314-107T>A | - | IntronicSNV | - | 2/15 | 2 |
17-43013401-T-A | c.312A>T | p.S104= | Synonymous | 2/16 | - | 1 |
17-43013401-T-C | c.312A>G | p.S104= | Synonymous | 2/16 | - | 2 |
17-43013401-T-G | c.312A>C | p.S104= | Synonymous | 2/16 | - | 1 |
17-43013408-T-C | c.305A>G | p.N102S | Missense | 2/16 | - | 1 |
17-43013409-T-C | c.304A>G | p.N102D | Missense | 2/16 | - | 1 |
17-43013411-T-C | c.302A>G | p.Y101C | Missense | 2/16 | - | 1 |
17-43013422-G-A | c.291C>T | p.F97= | Synonymous | 2/16 | - | 3 |
17-43013428-G-C | c.285C>G | p.D95E | Missense | 2/16 | - | 1 |
17-43013436-C-T | c.277G>A | p.V93I | Missense | 2/16 | - | 2 |
17-43013438-C-T | c.275G>A | p.S92N | Missense | 2/16 | - | 3 |
17-43013443-C-A | c.270G>T | p.T90= | Synonymous | 2/16 | - | 1 |
17-43013443-C-G | c.270G>C | p.T90= | Synonymous | 2/16 | - | 1 |
17-43013443-C-T | c.270G>A | p.T90= | Synonymous | 2/16 | - | 1 |
17-43013460-C-A | c.253G>T | p.V85L | Missense | 2/16 | - | 1 |
17-43013460-C-G | c.253G>C | p.V85L | Missense | 2/16 | - | 3 |
17-43013460-C-T | c.253G>A | p.V85M | Missense | 2/16 | - | 3 |
17-43013461-G-A | c.252C>T | p.D84= | Synonymous | 2/16 | - | 4 |
17-43013462-TC-AA | c.250_251delinsTT | p.D84F | Missense | 2/16 | - | 1 |
17-43013464-C-T | c.249G>A | p.Q83= | Synonymous | 2/16 | - | 1 |
17-43013467-T-C | c.246A>G | p.Q82= | Synonymous | 2/16 | - | 2 |
17-43013468-T-G | c.245A>C | p.Q82P | Missense | 2/16 | - | 1 |
17-43013472-T-C | c.241A>G | p.T81A | Missense | 2/16 | - | 1 |
17-43013474-G-C | c.239C>G | p.A80G | Missense | 2/16 | - | 1 |
17-43013477-G-A | c.236C>T | p.A79V | Missense | 2/16 | - | 1 |
17-43013481-C-A | c.232G>T | p.E78* | Nonsense | 2/16 | - | 4 |
17-43013485-A-C | c.228T>G | p.F76L | Missense | 2/16 | - | 1 |
17-43013493-G-T | c.220C>A | p.R74= | Synonymous | 2/16 | - | 1 |
17-43013496-C-A | c.217G>T | p.D73Y | Missense | 2/16 | - | 1 |
17-43013506-C-A | c.207G>T | p.T69= | Synonymous | 2/16 | - | 1 |
17-43013506-C-G | c.207G>C | p.T69= | Synonymous | 2/16 | - | 1 |
17-43013506-C-T | c.207G>A | p.T69= | Synonymous | 2/16 | - | 1 |
17-43013509-C-A | c.204G>T | p.L68= | Synonymous | 2/16 | - | 2 |
17-43013510-A-G | c.203T>C | p.L68P | Missense | 2/16 | - | 1 |
17-43013520-C-T | c.193G>A | p.G65S | Missense | 2/16 | - | 1 |
17-43013521-C-A | c.192G>T | p.K64N | Missense | 2/16 | - | 1 |
17-43013521-C-G | c.192G>C | p.K64N | Missense | 2/16 | - | 1 |
17-43013526-T-G | c.187A>C | p.K63Q | Missense | 2/16 | - | 1 |
17-43013531-G-A | c.182C>T | p.P61L | Missense | 2/16 | - | 1 |
17-43013532-G-A | c.181C>T | p.P61S | Missense | 2/16 | - | 4 |
17-43013534-C-A | c.179G>T | p.G60V | Missense | 2/16 | - | 1 |
17-43013535-C-A | c.178G>T | p.G60C | Missense | 2/16 | - | 1 |
17-43013537-T-C | c.176A>G | p.D59G | Missense | 2/16 | - | 1 |
17-43013537-T-G | c.176A>C | p.D59A | Missense | 2/16 | - | 1 |
17-43013539-A-G | c.174T>C | p.H58= | Synonymous | 2/16 | - | 1 |
17-43013546-C-T | c.167G>A | p.G56D | Missense | 2/16 | - | 1 |
17-43013547-C-T | c.166G>A | p.G56S | Missense | 2/16 | - | 1 |
17-43013570-C-G | c.143G>C | p.G48A | Missense | 2/16 | - | 2 |
17-43013577-C-T | c.136G>A | p.D46N | Missense | 2/16 | - | 3 |
17-43013578-G-A | c.135C>T | p.P45= | Synonymous | 2/16 | - | 2 |
17-43013578-G-C | c.135C>G | p.P45= | Synonymous | 2/16 | - | 1 |
17-43013578-G-T | c.135C>A | p.P45= | Synonymous | 2/16 | - | 1 |
17-43013584-C-T | c.129G>A | p.E43= | Synonymous | 2/16 | - | 1 |
17-43013589-G-A | c.124C>T | p.P42S | Missense | 2/16 | - | 2 |
17-43013607-G-A | c.106C>T | p.R36W | Missense | 2/16 | - | 4 |
17-43013610-C-T | c.103G>A | p.E35K | Missense | 2/16 | - | 2 |
17-43013628-C-A | c.85G>T | p.V29L | Missense | 2/16 | - | 1 |
17-43013628-C-G | c.85G>C | p.V29L | Missense | 2/16 | - | 1 |
17-43013634-G-A | c.79C>T | p.R27W | Missense | 2/16 | - | 4 |
17-43013654-C-A | c.59G>T | p.R20L | Missense | 2/16 | - | 1 |
17-43013655-G-A | c.58C>T | p.R20W | Missense | 2/16 | - | 2 |
17-43013655-G-T | c.58C>A | p.R20= | Synonymous | 2/16 | - | 1 |
17-43013659-G-A | c.54C>T | p.T18= | Synonymous | 2/16 | - | 2 |
17-43013659-G-C | c.54C>G | p.T18= | Synonymous | 2/16 | - | 2 |
17-43013659-G-T | c.54C>A | p.T18= | Synonymous | 2/16 | - | 2 |
17-43013661-GT-G | c.52del | p.T18Pfs*35 | Frameshift | 2/16 | - | 2 |
17-43013661-T-TC | c.51_52insG | p.T18Dfs*24 | Frameshift | 2/16 | - | 1 |
17-43013663-G-T | c.50C>A | p.P17H | Missense | 2/16 | - | 1 |
17-43013664-G-A | c.49C>T | p.P17S | Missense | 2/16 | - | 1 |
17-43013661-TG-T | c.51del | p.T18Pfs*35 | Frameshift | 2/16 | - | 1 |
17-43013661-T-TG | c.51dup | p.T18Hfs*24 | Frameshift | 2/16 | - | 1 |
17-43013667-G-A | c.46C>T | p.P16S | Missense | 2/16 | - | 1 |
17-43013670-G-A | c.43C>T | p.R15W | Missense | 2/16 | - | 1 |
17-43013671-C-A | c.42G>T | p.V14= | Synonymous | 2/16 | - | 1 |
17-43013671-C-G | c.42G>C | p.V14= | Synonymous | 2/16 | - | 1 |
17-43013671-C-T | c.42G>A | p.V14= | Synonymous | 2/16 | - | 2 |
17-43013674-C-A | c.39G>T | p.R13= | Synonymous | 2/16 | - | 1 |
17-43013674-C-G | c.39G>C | p.R13= | Synonymous | 2/16 | - | 1 |
17-43013674-C-T | c.39G>A | p.R13= | Synonymous | 2/16 | - | 1 |
17-43013676-G-A | c.37C>T | p.R13W | Missense | 2/16 | - | 1 |
17-43013676-G-T | c.37C>A | p.R13= | Synonymous | 2/16 | - | 1 |
17-43013679-C-T | c.34G>A | p.V12I | Missense | 2/16 | - | 1 |
17-43013683-TAC-CAT | c.28_30delinsATG | p.V10M | Missense | 2/16 | - | 1 |
17-43013692-C-A | c.21G>T | p.T7= | Synonymous | 2/16 | - | 2 |
17-43013692-C-G | c.21G>C | p.T7= | Synonymous | 2/16 | - | 2 |
17-43013692-C-T | c.21G>A | p.T7= | Synonymous | 2/16 | - | 2 |
17-43013693-G-A | c.20C>T | p.T7M | Missense | 2/16 | - | 2 |
17-43013709-C-T | c.4G>A | p.A2T | Missense | 2/16 | - | 1 |
17-43013730-G-A | c.-14-4C>T | - | IntronicSNV | - | 1/15 | 1 |
17-43013968-A-C | c.-14-242T>G | - | IntronicSNV | - | 1/15 | 1 |
17-43013968-A-T | c.-14-242T>A | - | IntronicSNV | - | 1/15 | 1 |
17-43015392-A-G | c.-14-1666T>C | - | IntronicSNV | - | 1/15 | 1 |
17-43015392-A-T | c.-14-1666T>A | - | IntronicSNV | - | 1/15 | 1 |