Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
15-55647463-T-C | c.*955A>G | - | 3-UTRSNV | 9/9 | - | 1 |
15-55647786-A-G | c.*632T>C | - | 3-UTRSNV | 9/9 | - | 1 |
15-55648426-G-A | c.2416C>T | p.Q806* | Nonsense | 9/9 | - | 1 |
15-55648443-T-A | c.2399A>T | p.Q800L | Missense | 9/9 | - | 1 |
15-55648471-TTTG-T | c.2368_2370del | p.Q790del | InFrameDeletion | 9/9 | - | 1 |
15-55648465-TTGCCATTTGTCTTCCATTAGTGCGACCATATTTA-T | c.2343_2376del | p.H781Qfs*5 | Frameshift | 9/9 | - | 1 |
15-55648475-TCT-ACA | c.2365_2367delinsTGT | p.R789C | Missense | 9/9 | - | 2 |
15-55648488-C-T | c.2354G>A | p.R785H | Missense | 9/9 | - | 1 |
15-55648499-TA-T | c.2343del | p.H781Qfs*16 | Frameshift | 9/9 | - | 1 |
15-55648500-T-A | c.2342A>T | p.H781L | Missense | 9/9 | - | 1 |
15-55648500-T-C | c.2342A>G | p.H781R | Missense | 9/9 | - | 1 |
15-55648520-A-T | c.2322T>A | p.Y774* | Nonsense | 9/9 | - | 1 |
15-55648526-C-A | c.2316G>T | p.Q772H | Missense | 9/9 | - | 1 |
15-55648526-C-G | c.2316G>C | p.Q772H | Missense | 9/9 | - | 1 |
15-55648534-G-A | c.2308C>T | p.Q770* | Nonsense | 9/9 | - | 1 |
15-55648537-G-A | c.2305C>T | p.L769F | Missense | 9/9 | - | 2 |
15-55648539-T-C | c.2303A>G | p.H768R | Missense | 9/9 | - | 1 |
15-55648547-C-T | c.2295G>A | p.E765= | Synonymous | 9/9 | - | 1 |
15-55648549-C-G | c.2293G>C | p.E765Q | Missense | 9/9 | - | 2 |
15-55648554-T-C | c.2288A>G | p.K763R | Missense | 9/9 | - | 1 |
15-55648557-C-T | c.2285G>A | p.R762Q | Missense | 9/9 | - | 1 |
15-55648572-T-C | c.2270A>G | p.E757G | Missense | 9/9 | - | 1 |
15-55648575-A-G | c.2267T>C | p.I756T | Missense | 9/9 | - | 3 |
15-55648586-A-G | c.2256T>C | p.R752= | Synonymous | 9/9 | - | 1 |
15-55648591-G-A | c.2251C>T | p.Q751* | Nonsense | 9/9 | - | 1 |
15-55648593-T-C | c.2249A>G | p.K750R | Missense | 9/9 | - | 1 |
15-55648602-G-A | c.2240C>T | p.P747L | Missense | 9/9 | - | 1 |
15-55648603-G-C | c.2239C>G | p.P747A | Missense | 9/9 | - | 1 |
15-55648605-C-T | c.2237G>A | p.R746Q | Missense | 9/9 | - | 1 |
15-55648606-G-A | c.2236C>T | p.R746* | Nonsense | 9/9 | - | 1 |
15-55651370-A-G | c.2234+367T>C | - | IntronicSNV | - | 8/8 | 1 |
15-55651400-A-G | c.2234+337T>C | - | IntronicSNV | - | 8/8 | 1 |
15-55651737-CT-AG | c.2233_2234inv | p.S745L | Missense | 8/9 | - | 1 |
15-55651738-T-A | c.2233A>T | p.S745C | Missense | 8/9 | - | 1 |
15-55651755-GA-G | c.2215del | p.S739Pfs*16 | Frameshift | 8/9 | - | 1 |
15-55651760-A-C | c.2211T>G | p.T737= | Synonymous | 8/9 | - | 3 |
15-55651760-A-G | c.2211T>C | p.T737= | Synonymous | 8/9 | - | 2 |
15-55651760-A-T | c.2211T>A | p.T737= | Synonymous | 8/9 | - | 2 |
15-55651761-G-A | c.2210C>T | p.T737I | Missense | 8/9 | - | 1 |
15-55651764-T-C | c.2207A>G | p.H736R | Missense | 8/9 | - | 3 |
15-55651766-A-C | c.2205T>G | p.G735= | Synonymous | 8/9 | - | 1 |
15-55651766-A-G | c.2205T>C | p.G735= | Synonymous | 8/9 | - | 2 |
15-55651766-A-T | c.2205T>A | p.G735= | Synonymous | 8/9 | - | 1 |
15-55651767-C-T | c.2204G>A | p.G735D | Missense | 8/9 | - | 1 |
15-55651769-A-C | c.2202T>G | p.F734L | Missense | 8/9 | - | 1 |
15-55651769-A-T | c.2202T>A | p.F734L | Missense | 8/9 | - | 1 |
15-55651771-A-G | c.2200T>C | p.F734L | Missense | 8/9 | - | 1 |
15-55651772-G-T | c.2199C>A | p.F733L | Missense | 8/9 | - | 2 |
15-55651772-G-C | c.2199C>G | p.F733L | Missense | 8/9 | - | 1 |
15-55651774-A-G | c.2197T>C | p.F733L | Missense | 8/9 | - | 1 |
15-55651781-A-AT | c.2189dup | p.Y730* | Nonsense | 8/9 | - | 1 |
15-55651779-CTA-C | c.2190_2191del | p.Y730* | Frameshift | 8/9 | - | 1 |
15-55651790-T-A | c.2181A>T | p.E727D | Missense | 8/9 | - | 1 |
15-55651790-T-G | c.2181A>C | p.E727D | Missense | 8/9 | - | 1 |
15-55651810-C-T | c.2161G>A | p.V721I | Missense | 8/9 | - | 1 |
15-55651833-T-A | c.2138A>T | p.E713V | Missense | 8/9 | - | 1 |
15-55651833-T-G | c.2138A>C | p.E713A | Missense | 8/9 | - | 1 |
15-55651835-C-T | c.2136G>A | p.K712= | Synonymous | 8/9 | - | 1 |
15-55651849-G-C | c.2122C>G | p.L708V | Missense | 8/9 | - | 1 |
15-55651850-A-C | c.2121T>G | p.Y707* | Nonsense | 8/9 | - | 1 |
15-55651850-A-T | c.2121T>A | p.Y707* | Nonsense | 8/9 | - | 1 |
15-55651851-T-C | c.2120A>G | p.Y707C | Missense | 8/9 | - | 1 |
15-55651859-AACATC-A | c.2107_2111del | p.D703* | Frameshift | 8/9 | - | 1 |
15-55651864-C-CA | c.2106dup | p.D703* | Nonsense | 8/9 | - | 1 |
15-55651868-A-T | c.2103T>A | p.V701= | Synonymous | 8/9 | - | 1 |
15-55651874-G-A | c.2097C>T | p.D699= | Synonymous | 8/9 | - | 1 |
15-55651891-G-A | c.2080C>T | p.Q694* | Nonsense | 8/9 | - | 5 |
15-55651903-A-G | c.2068T>C | p.F690L | Missense | 8/9 | - | 1 |
15-55651904-AG-A | c.2067del | p.F690Lfs*22 | Frameshift | 8/9 | - | 1 |
15-55651905-A-G | c.2066T>C | p.V689A | Missense | 8/9 | - | 1 |
15-55651908-C-T | c.2063G>A | p.G688D | Missense | 8/9 | - | 2 |
15-55651926-T-C | c.2045A>G | p.N682S | Missense | 8/9 | - | 8 |
15-55651928-G-C | c.2043C>G | p.I681M | Missense | 8/9 | - | 1 |
15-55651931-G-A | c.2040C>T | p.F680= | Synonymous | 8/9 | - | 3 |
15-55651934-C-T | c.2037G>A | p.Q679= | Synonymous | 8/9 | - | 1 |
15-55651940-A-C | c.2031T>G | p.L677= | Synonymous | 8/9 | - | 1 |
15-55651940-A-G | c.2031T>C | p.L677= | Synonymous | 8/9 | - | 1 |
15-55651940-A-T | c.2031T>A | p.L677= | Synonymous | 8/9 | - | 1 |
15-55651942-G-A | c.2029C>T | p.L677F | Missense | 8/9 | - | 1 |
15-55651945-C-T | c.2026G>A | p.E676K | Missense | 8/9 | - | 5 |
15-55651946-G-A | c.2025C>T | p.N675= | Synonymous | 8/9 | - | 3 |
15-55651952-G-A | c.2019C>T | p.H673= | Synonymous | 8/9 | - | 1 |
15-55651953-T-C | c.2018A>G | p.H673R | Missense | 8/9 | - | 2 |
15-55651953-T-G | c.2018A>C | p.H673P | Missense | 8/9 | - | 1 |
15-55651955-A-G | c.2016T>C | p.C672= | Synonymous | 8/9 | - | 1 |
15-55651962-G-A | c.2009C>T | p.T670I | Missense | 8/9 | - | 1 |
15-55651990-G-A | c.1981C>T | p.Q661* | Nonsense | 8/9 | - | 1 |
15-55652008-C-T | c.1963G>A | p.E655K | Missense | 8/9 | - | 4 |
15-55652009-A-C | c.1962T>G | p.D654E | Missense | 8/9 | - | 2 |
15-55652009-A-T | c.1962T>A | p.D654E | Missense | 8/9 | - | 1 |
15-55652011-C-T | c.1960G>A | p.D654N | Missense | 8/9 | - | 1 |
15-55652032-C-T | c.1939G>A | p.V647M | Missense | 8/9 | - | 1 |
15-55652034-G-A | c.1937C>T | p.T646I | Missense | 8/9 | - | 2 |
15-55652034-G-C | c.1937C>G | p.T646R | Missense | 8/9 | - | 1 |
15-55652043-A-G | c.1928T>C | p.L643P | Missense | 8/9 | - | 1 |
15-55652059-G-A | c.1912C>T | p.Q638* | Nonsense | 8/9 | - | 1 |
15-55652060-T-C | c.1911A>G | p.Q637= | Synonymous | 8/9 | - | 2 |
15-55652062-G-A | c.1909C>T | p.Q637* | Nonsense | 8/9 | - | 2 |
15-55652077-C-T | c.1894G>A | p.V632I | Missense | 8/9 | - | 1 |
15-55652080-C-T | c.1891G>A | p.G631S | Missense | 8/9 | - | 1 |
15-55652089-C-G | c.1882G>C | p.A628P | Missense | 8/9 | - | 3 |
15-55652090-C-T | c.1881G>A | p.K627= | Synonymous | 8/9 | - | 1 |
15-55652092-T-C | c.1879A>G | p.K627E | Missense | 8/9 | - | 2 |
15-55652094-C-T | c.1877G>A | p.R626K | Missense | 8/9 | - | 1 |
15-55652111-T-A | c.1860A>T | p.E620D | Missense | 8/9 | - | 1 |
15-55652111-T-G | c.1860A>C | p.E620D | Missense | 8/9 | - | 1 |
15-55652116-T-C | c.1855A>G | p.R619G | Missense | 8/9 | - | 3 |
15-55652121-AT-A | c.1850del | p.D617Vfs*25 | Frameshift | 8/9 | - | 1 |
15-55652127-C-G | c.1844G>C | p.G615A | Missense | 8/9 | - | 1 |
15-55652153-A-C | c.1818T>G | p.N606K | Missense | 8/9 | - | 1 |
15-55652153-A-T | c.1818T>A | p.N606K | Missense | 8/9 | - | 1 |
15-55652153-A-AT | c.1817dup | p.N606Kfs*12 | Frameshift | 8/9 | - | 1 |
15-55652153-AT-A | c.1817del | p.N606Ifs*36 | Frameshift | 8/9 | - | 2 |
15-55652171-A-C | c.1800T>G | p.F600L | Missense | 8/9 | - | 1 |
15-55652171-A-T | c.1800T>A | p.F600L | Missense | 8/9 | - | 1 |
15-55652173-A-G | c.1798T>C | p.F600L | Missense | 8/9 | - | 1 |
15-55652173-A-AG | c.1797dup | p.F600Lfs*2 | Frameshift | 8/9 | - | 1 |
15-55652176-G-A | c.1795C>T | p.H599Y | Missense | 8/9 | - | 4 |
15-55652187-T-C | c.1784A>G | p.E595G | Missense | 8/9 | - | 2 |
15-55652192-C-T | c.1779G>A | p.R593= | Synonymous | 8/9 | - | 2 |
15-55652194-T-G | c.1777A>C | p.R593= | Synonymous | 8/9 | - | 1 |
15-55652200-C-T | c.1771G>A | p.D591N | Missense | 8/9 | - | 2 |
15-55652201-A-C | c.1770T>G | p.N590K | Missense | 8/9 | - | 1 |
15-55652201-A-T | c.1770T>A | p.N590K | Missense | 8/9 | - | 2 |
15-55652232-T-C | c.1739A>G | p.N580S | Missense | 8/9 | - | 1 |
15-55652244-G-A | c.1727C>T | p.A576V | Missense | 8/9 | - | 1 |
15-55652263-A-G | c.1708T>C | p.L570= | Synonymous | 8/9 | - | 1 |
15-55652268-TCACTAAAAACTGTTCTTGGTTTTTCAGCTGCTTCTTTTGTAG-T | c.1661_1702del | p.A554_S567del | InFrameDeletion | 8/9 | - | 1 |
15-55652273-A-G | c.1698T>C | p.F566= | Synonymous | 8/9 | - | 1 |
15-55652274-A-C | c.1697T>G | p.F566C | Missense | 8/9 | - | 1 |
15-55652274-A-G | c.1697T>C | p.F566S | Missense | 8/9 | - | 3 |
15-55652283-C-T | c.1688G>A | p.R563K | Missense | 8/9 | - | 1 |
15-55652301-T-C | c.1670A>G | p.E557G | Missense | 8/9 | - | 1 |
15-55652313-C-G | c.1658G>C | p.G553A | Missense | 8/9 | - | 1 |
15-55652313-C-T | c.1658G>A | p.G553D | Missense | 8/9 | - | 2 |
15-55652314-C-T | c.1657G>A | p.G553S | Missense | 8/9 | - | 3 |
15-55652342-G-T | c.1629C>A | p.I543= | Synonymous | 8/9 | - | 1 |
15-55652344-T-C | c.1627A>G | p.I543V | Missense | 8/9 | - | 1 |
15-55652345-A-C | c.1626T>G | p.N542K | Missense | 8/9 | - | 2 |
15-55652345-A-T | c.1626T>A | p.N542K | Missense | 8/9 | - | 3 |
15-55652356-T-G | c.1615A>C | p.T539P | Missense | 8/9 | - | 1 |
15-55652360-T-A | c.1611A>T | p.K537N | Missense | 8/9 | - | 1 |
15-55652363-A-C | c.1608T>G | p.F536L | Missense | 8/9 | - | 1 |
15-55652363-A-T | c.1608T>A | p.F536L | Missense | 8/9 | - | 1 |
15-55652365-A-G | c.1606T>C | p.F536L | Missense | 8/9 | - | 1 |
15-55652369-T-C | c.1602A>G | p.R534= | Synonymous | 8/9 | - | 2 |
15-55652389-A-T | c.1582T>A | p.S528T | Missense | 8/9 | - | 1 |
15-55652394-G-A | c.1577C>T | p.S526L | Missense | 8/9 | - | 2 |
15-55652396-G-T | c.1575C>A | p.F525L | Missense | 8/9 | - | 5 |
15-55652396-G-C | c.1575C>G | p.F525L | Missense | 8/9 | - | 3 |
15-55652398-A-G | c.1573T>C | p.F525L | Missense | 8/9 | - | 3 |
15-55652398-A-T | c.1573T>A | p.F525I | Missense | 8/9 | - | 1 |
15-55652401-T-A | c.1570A>T | p.K524* | Nonsense | 8/9 | - | 1 |
15-55652398-AT-A | c.1572del | p.K524Nfs*118 | Frameshift | 8/9 | - | 2 |
15-55652412-T-C | c.1559A>G | p.E520G | Missense | 8/9 | - | 2 |
15-55652421-G-T | c.1550C>A | p.A517D | Missense | 8/9 | - | 2 |
15-55652422-C-A | c.1549G>T | p.A517S | Missense | 8/9 | - | 1 |
15-55652430-G-A | c.1541C>T | p.A514V | Missense | 8/9 | - | 2 |
15-55652435-C-A | c.1536G>T | p.K512N | Missense | 8/9 | - | 2 |
15-55652435-C-G | c.1536G>C | p.K512N | Missense | 8/9 | - | 2 |
15-55652437-T-G | c.1534A>C | p.K512Q | Missense | 8/9 | - | 1 |
15-55652440-T-G | c.1531A>C | p.I511L | Missense | 8/9 | - | 1 |
15-55652446-C-T | c.1525G>A | p.E509K | Missense | 8/9 | - | 1 |
15-55652461-C-A | c.1510G>T | p.V504L | Missense | 8/9 | - | 3 |
15-55652461-C-G | c.1510G>C | p.V504L | Missense | 8/9 | - | 2 |
15-55652480-C-A | c.1491G>T | p.K497N | Missense | 8/9 | - | 1 |
15-55652503-T-G | c.1468A>C | p.K490Q | Missense | 8/9 | - | 1 |
15-55652491-CAAATGTTTCCTTAACTGAACCCAA-C | c.1456_1479del | p.L486_F493del | InFrameDeletion | 8/9 | - | 1 |
15-55652505-A-G | c.1466T>C | p.V489A | Missense | 8/9 | - | 1 |
15-55652510-A-C | c.1461T>G | p.G487= | Synonymous | 8/9 | - | 1 |
15-55652510-A-G | c.1461T>C | p.G487= | Synonymous | 8/9 | - | 2 |
15-55652510-A-T | c.1461T>A | p.G487= | Synonymous | 8/9 | - | 1 |
15-55652512-C-A | c.1459G>T | p.G487C | Missense | 8/9 | - | 2 |
15-55652527-T-C | c.1444A>G | p.K482E | Missense | 8/9 | - | 1 |
15-55652541-G-A | c.1430C>T | p.A477V | Missense | 8/9 | - | 2 |
15-55652543-C-T | c.1428G>A | p.R476= | Synonymous | 8/9 | - | 1 |
15-55652544-C-A | c.1427G>T | p.R476M | Missense | 8/9 | - | 1 |
15-55652544-C-T | c.1427G>A | p.R476K | Missense | 8/9 | - | 1 |
15-55652553-C-T | c.1418G>A | p.G473E | Missense | 8/9 | - | 1 |
15-55652554-C-G | c.1417G>C | p.G473R | Missense | 8/9 | - | 1 |
15-55652554-C-T | c.1417G>A | p.G473R | Missense | 8/9 | - | 1 |
15-55652557-T-TA | c.1413_1414insT | p.R472* | Nonsense | 8/9 | - | 1 |
15-55652558-G-A | c.1413C>T | p.G471= | Synonymous | 8/9 | - | 1 |
15-55652558-G-C | c.1413C>G | p.G471= | Synonymous | 8/9 | - | 1 |
15-55652558-G-T | c.1413C>A | p.G471= | Synonymous | 8/9 | - | 1 |
15-55652559-C-T | c.1412G>A | p.G471D | Missense | 8/9 | - | 3 |
15-55652562-C-G | c.1409G>C | p.G470A | Missense | 8/9 | - | 1 |
15-55652558-G-GC | c.1412dup | p.R472Qfs*7 | Frameshift | 8/9 | - | 1 |
15-55652567-C-A | c.1404G>T | p.K468N | Missense | 8/9 | - | 1 |
15-55652567-C-CT | c.1403dup | p.K469Efs*10 | Frameshift | 8/9 | - | 1 |
15-55652586-T-C | c.1385A>G | p.Q462R | Missense | 8/9 | - | 1 |
15-55652594-AT-A | c.1376del | p.N459Mfs*38 | Frameshift | 8/9 | - | 1 |
15-55652601-T-C | c.1370A>G | p.D457G | Missense | 8/9 | - | 1 |
15-55652604-T-G | c.1367A>C | p.K456T | Missense | 8/9 | - | 1 |
15-55652605-T-C | c.1366A>G | p.K456E | Missense | 8/9 | - | 6 |
15-55652607-G-C | c.1364C>G | p.A455G | Missense | 8/9 | - | 1 |
15-55652618-C-T | c.1353G>A | p.L451= | Synonymous | 8/9 | - | 1 |
15-55652620-A-G | c.1351T>C | p.L451= | Synonymous | 8/9 | - | 1 |
15-55652621-TCT-ATG | c.1348_1350delinsCAT | p.R450H | Missense | 8/9 | - | 1 |
15-55652626-C-T | c.1345G>A | p.E449K | Missense | 8/9 | - | 1 |
15-55652630-C-A | c.1341G>T | p.L447F | Missense | 8/9 | - | 1 |
15-55652630-C-G | c.1341G>C | p.L447F | Missense | 8/9 | - | 1 |
15-55652637-G-A | c.1334C>T | p.S445F | Missense | 8/9 | - | 1 |
15-55652639-ACG-CTT | c.1330_1332delinsAAG | p.R444K | Missense | 8/9 | - | 1 |
15-55652641-G-A | c.1330C>T | p.R444C | Missense | 8/9 | - | 1 |
15-55652647-G-A | c.1324C>T | p.Q442* | Nonsense | 8/9 | - | 2 |
15-55652650-C-A | c.1321G>T | p.E441* | Nonsense | 8/9 | - | 3 |
15-55652650-C-T | c.1321G>A | p.E441K | Missense | 8/9 | - | 4 |
15-55652654-G-T | c.1317C>A | p.T439= | Synonymous | 8/9 | - | 1 |
15-55652656-T-C | c.1315A>G | p.T439A | Missense | 8/9 | - | 1 |
15-55652658-A-G | c.1313T>C | p.L438P | Missense | 8/9 | - | 4 |
15-55652662-T-C | c.1309A>G | p.K437E | Missense | 8/9 | - | 1 |
15-55652664-C-A | c.1307G>T | p.R436L | Missense | 8/9 | - | 4 |
15-55652664-C-T | c.1307G>A | p.R436Q | Missense | 8/9 | - | 3 |
15-55652665-G-A | c.1306C>T | p.R436W | Missense | 8/9 | - | 3 |
15-55652672-C-T | c.1299G>A | p.E433= | Synonymous | 8/9 | - | 1 |
15-55652675-AG-CA | c.1295_1296delinsTG | p.T432M | Missense | 8/9 | - | 1 |
15-55652682-CT-TG | c.1288_1289delinsCA | p.R430Q | Missense | 8/9 | - | 1 |
15-55652688-C-T | c.1283G>A | p.R428Q | Missense | 8/9 | - | 1 |
15-55652689-G-A | c.1282C>T | p.R428W | Missense | 8/9 | - | 3 |
15-55652706-T-C | c.1265A>G | p.K422R | Missense | 8/9 | - | 1 |
15-55652711-T-A | c.1260A>T | p.E420D | Missense | 8/9 | - | 1 |
15-55652711-T-G | c.1260A>C | p.E420D | Missense | 8/9 | - | 1 |
15-55652705-CT-C | c.1265del | p.K422Rfs*3 | Frameshift | 8/9 | - | 6 |
15-55652719-A-G | c.1252T>C | p.Y418H | Missense | 8/9 | - | 11 |
15-55652738-C-A | c.1233G>T | p.K411N | Missense | 8/9 | - | 1 |
15-55652740-T-G | c.1231A>C | p.K411Q | Missense | 8/9 | - | 1 |
15-55652742-C-T | c.1229G>A | p.G410D | Missense | 8/9 | - | 1 |
15-55652745-T-C | c.1226A>G | p.H409R | Missense | 8/9 | - | 1 |
15-55652751-T-C | c.1220A>G | p.Q407R | Missense | 8/9 | - | 1 |
15-55652756-A-G | c.1215T>C | p.G405= | Synonymous | 8/9 | - | 1 |
15-55652757-C-G | c.1214G>C | p.G405A | Missense | 8/9 | - | 1 |
15-55652773-GT-G | c.1197del | p.E399Dfs*5 | Frameshift | 8/9 | - | 1 |
15-55652778-C-A | c.1193G>T | p.G398V | Missense | 8/9 | - | 1 |
15-55652780-C-A | c.1191G>T | p.R397S | Missense | 8/9 | - | 1 |
15-55652780-C-G | c.1191G>C | p.R397S | Missense | 8/9 | - | 3 |
15-55652775-TC-T | c.1195del | p.E399Nfs*5 | Frameshift | 8/9 | - | 2 |
15-55652775-T-TC | c.1195dup | p.E399Gfs*8 | Frameshift | 8/9 | - | 1 |
15-55652781-CT-TG | c.1189_1190delinsCA | p.R397Q | Missense | 8/9 | - | 1 |
15-55652788-C-A | c.1183G>T | p.A395S | Missense | 8/9 | - | 1 |
15-55652796-A-T | c.1175T>A | p.V392E | Missense | 8/9 | - | 1 |
15-55652803-G-A | c.1168C>T | p.R390* | Nonsense | 8/9 | - | 1 |
15-55652813-C-A | c.1158G>T | p.L386= | Synonymous | 8/9 | - | 1 |
15-55652813-C-G | c.1158G>C | p.L386= | Synonymous | 8/9 | - | 1 |
15-55652813-C-T | c.1158G>A | p.L386= | Synonymous | 8/9 | - | 1 |
15-55652815-G-A | c.1156C>T | p.L386= | Synonymous | 8/9 | - | 1 |
15-55652818-C-CA | c.1152_1153insT | p.E385* | Nonsense | 8/9 | - | 1 |
15-55652818-C-T | c.1153G>A | p.E385K | Missense | 8/9 | - | 1 |
15-55652820-CT-TG | c.1150_1151delinsCA | p.R384Q | Missense | 8/9 | - | 1 |
15-55652816-TTC-T | c.1153_1154del | p.E385Tfs*21 | Frameshift | 8/9 | - | 1 |
15-55652824-T-A | c.1147A>T | p.K383* | Nonsense | 8/9 | - | 1 |
15-55652829-A-G | c.1142T>C | p.M381T | Missense | 8/9 | - | 1 |
15-55652832-T-A | c.1139A>T | p.K380M | Missense | 8/9 | - | 1 |
15-55652835-G-A | c.1136C>T | p.A379V | Missense | 8/9 | - | 1 |
15-55652839-C-T | c.1132G>A | p.E378K | Missense | 8/9 | - | 1 |
15-55652845-A-G | c.1126T>C | p.L376= | Synonymous | 8/9 | - | 2 |
15-55652848-G-C | c.1123C>G | p.L375V | Missense | 8/9 | - | 1 |
15-55652846-CAG-C | c.1123_1124del | p.L375Vfs*31 | Frameshift | 8/9 | - | 1 |
15-55652850-G-T | c.1121C>A | p.T374N | Missense | 8/9 | - | 1 |
15-55652855-C-T | c.1116G>A | p.R372= | Synonymous | 8/9 | - | 4 |
15-55652856-C-T | c.1115G>A | p.R372K | Missense | 8/9 | - | 1 |
15-55652862-CT-TC | c.1108_1109delinsGA | p.S370D | Missense | 8/9 | - | 2 |
15-55652864-AAG-TTA | c.1105_1107delinsTAA | p.L369* | Nonsense | 8/9 | - | 1 |
15-55652868-A-C | c.1103T>G | p.F368C | Missense | 8/9 | - | 1 |
15-55652868-A-G | c.1103T>C | p.F368S | Missense | 8/9 | - | 1 |
15-55652871-CT-GG | c.1099_1100delinsCC | p.S367P | Missense | 8/9 | - | 1 |
15-55652873-TG-T | c.1098del | p.H366Qfs*11 | Frameshift | 8/9 | - | 1 |
15-55652875-G-C | c.1096C>G | p.H366D | Missense | 8/9 | - | 1 |
15-55652880-T-C | c.1091A>G | p.K364R | Missense | 8/9 | - | 2 |
15-55652875-G-GT | c.1095dup | p.H366Tfs*5 | Frameshift | 8/9 | - | 2 |
15-55652881-T-A | c.1090A>T | p.K364* | Nonsense | 8/9 | - | 1 |
15-55652881-T-G | c.1090A>C | p.K364Q | Missense | 8/9 | - | 1 |
15-55652886-T-C | c.1085A>G | p.K362R | Missense | 8/9 | - | 1 |
15-55652890-C-T | c.1081G>A | p.E361K | Missense | 8/9 | - | 2 |
15-55652896-C-T | c.1075G>A | p.E359K | Missense | 8/9 | - | 1 |
15-55652898-A-G | c.1073T>C | p.L358S | Missense | 8/9 | - | 1 |
15-55652908-T-C | c.1063A>G | p.K355E | Missense | 8/9 | - | 1 |
15-55652924-T-C | c.1047A>G | p.K349= | Synonymous | 8/9 | - | 1 |
15-55652926-T-C | c.1045A>G | p.K349E | Missense | 8/9 | - | 1 |
15-55652929-C-T | c.1042G>A | p.V348I | Missense | 8/9 | - | 1 |
15-55652936-A-C | c.1035T>G | p.T345= | Synonymous | 8/9 | - | 1 |
15-55652936-A-G | c.1035T>C | p.T345= | Synonymous | 8/9 | - | 1 |
15-55652936-A-T | c.1035T>A | p.T345= | Synonymous | 8/9 | - | 2 |
15-55652939-A-G | c.1032T>C | p.S344= | Synonymous | 8/9 | - | 1 |
15-55652940-C-G | c.1031G>C | p.S344T | Missense | 8/9 | - | 1 |
15-55652943-G-A | c.1028C>T | p.T343I | Missense | 8/9 | - | 1 |
15-55652944-GT-G | c.1027del | p.T343Qfs*5 | Frameshift | 8/9 | - | 1 |
15-55652952-T-C | c.1019A>G | p.D340G | Missense | 8/9 | - | 1 |
15-55652953-C-A | c.1018G>T | p.D340Y | Missense | 8/9 | - | 1 |
15-55652969-C-A | c.1002G>T | p.Q334H | Missense | 8/9 | - | 1 |
15-55652969-C-T | c.1002G>A | p.Q334= | Synonymous | 8/9 | - | 1 |
15-55652973-T-G | c.998A>C | p.E333A | Missense | 8/9 | - | 1 |
15-55652974-C-A | c.997G>T | p.E333* | Nonsense | 8/9 | - | 1 |
15-55652991-T-C | c.980A>G | p.E327G | Missense | 8/9 | - | 1 |
15-55652999-T-C | c.972A>G | p.L324= | Synonymous | 8/9 | - | 1 |
15-55653003-G-A | c.968C>T | p.S323L | Missense | 8/9 | - | 2 |
15-55653003-G-C | c.968C>G | p.S323* | Nonsense | 8/9 | - | 1 |
15-55653003-G-T | c.968C>A | p.S323* | Nonsense | 8/9 | - | 1 |
15-55653004-A-T | c.967T>A | p.S323T | Missense | 8/9 | - | 1 |
15-55653007-A-G | c.964T>C | p.S322P | Missense | 8/9 | - | 1 |
15-55653008-TA-T | c.962del | p.L321Yfs*8 | Frameshift | 8/9 | - | 1 |
15-55653012-G-A | c.959C>T | p.A320V | Missense | 8/9 | - | 2 |
15-55653012-G-T | c.959C>A | p.A320D | Missense | 8/9 | - | 1 |
15-55653019-C-G | c.952G>C | p.E318Q | Missense | 8/9 | - | 1 |
15-55653023-C-A | c.948G>T | p.K316N | Missense | 8/9 | - | 1 |
15-55653023-C-G | c.948G>C | p.K316N | Missense | 8/9 | - | 2 |
15-55653031-A-G | c.940T>C | p.L314= | Synonymous | 8/9 | - | 20 |
15-55653034-A-G | c.937T>C | p.S313P | Missense | 8/9 | - | 1 |
15-55653037-C-G | c.934G>C | p.V312L | Missense | 8/9 | - | 1 |
15-55653040-T-C | c.931A>G | p.R311G | Missense | 8/9 | - | 4 |
15-55653048-T-C | c.923A>G | p.Q308R | Missense | 8/9 | - | 1 |
15-55653056-T-A | c.915A>T | p.T305= | Synonymous | 8/9 | - | 1 |
15-55653061-C-G | c.910G>C | p.A304P | Missense | 8/9 | - | 1 |
15-55653068-C-G | c.903G>C | p.T301= | Synonymous | 8/9 | - | 1 |
15-55653075-T-A | c.896A>T | p.Q299L | Missense | 8/9 | - | 1 |
15-55653078-G-A | c.893C>T | p.T298I | Missense | 8/9 | - | 1 |
15-55653088-A-T | c.883T>A | p.S295T | Missense | 8/9 | - | 1 |
15-55653092-C-T | c.879G>A | p.K293= | Synonymous | 8/9 | - | 1 |
15-55653090-ATCT-A | c.878_880del | p.K293del | InFrameDeletion | 8/9 | - | 2 |
15-55653095-C-G | c.876G>C | p.E292D | Missense | 8/9 | - | 1 |
15-55653103-C-T | c.868G>A | p.E290K | Missense | 8/9 | - | 1 |
15-55653109-G-A | c.862C>T | p.L288F | Missense | 8/9 | - | 1 |
15-55653109-G-T | c.862C>A | p.L288I | Missense | 8/9 | - | 1 |
15-55653116-A-G | c.855T>C | p.C285= | Synonymous | 8/9 | - | 1 |
15-55653121-T-TA | c.849_850insT | p.R284* | Nonsense | 8/9 | - | 1 |
15-55653123-G-A | c.848C>T | p.A283V | Missense | 8/9 | - | 1 |
15-55653126-A-G | c.845T>C | p.L282P | Missense | 8/9 | - | 1 |
15-55653129-T-C | c.842A>G | p.N281S | Missense | 8/9 | - | 1 |
15-55657399-A-T | c.815T>A | p.F272Y | Missense | 7/9 | - | 1 |
15-55657402-G-A | c.812C>T | p.S271F | Missense | 7/9 | - | 1 |
15-55657404-T-A | c.810A>T | p.E270D | Missense | 7/9 | - | 1 |
15-55657404-T-G | c.810A>C | p.E270D | Missense | 7/9 | - | 1 |
15-55657413-C-T | c.801G>A | p.Q267= | Synonymous | 7/9 | - | 2 |
15-55657418-G-C | c.796C>G | p.Q266E | Missense | 7/9 | - | 1 |
15-55657424-G-T | c.790C>A | p.Q264K | Missense | 7/9 | - | 1 |
15-55657426-G-A | c.788C>T | p.S263F | Missense | 7/9 | - | 6 |
15-55657426-G-C | c.788C>G | p.S263C | Missense | 7/9 | - | 1 |
15-55657430-G-A | c.784C>T | p.L262F | Missense | 7/9 | - | 1 |
15-55657436-C-T | c.778G>A | p.D260N | Missense | 7/9 | - | 1 |
15-55657442-T-C | c.772A>G | p.M258V | Missense | 7/9 | - | 2 |
15-55657445-C-T | c.769G>A | p.D257N | Missense | 7/9 | - | 1 |
15-55657451-A-C | c.763T>G | p.L255V | Missense | 7/9 | - | 1 |
15-55657451-A-G | c.763T>C | p.L255= | Synonymous | 7/9 | - | 1 |
15-55657460-C-A | c.754G>T | p.E252* | Nonsense | 7/9 | - | 1 |
15-55657465-A-G | c.749T>C | p.I250T | Missense | 7/9 | - | 1 |
15-55657471-C-G | c.743G>C | p.R248T | Missense | 7/9 | - | 1 |
15-55657472-T-A | c.742A>T | p.R248* | Nonsense | 7/9 | - | 1 |
15-55657473-G-A | c.741C>T | p.V247= | Synonymous | 7/9 | - | 1 |
15-55657473-G-C | c.741C>G | p.V247= | Synonymous | 7/9 | - | 1 |
15-55657473-G-T | c.741C>A | p.V247= | Synonymous | 7/9 | - | 1 |
15-55657475-C-G | c.739G>C | p.V247L | Missense | 7/9 | - | 1 |
15-55657481-G-A | c.733C>T | p.Q245* | Nonsense | 7/9 | - | 1 |
15-55657485-AC-TT | c.728_729delinsAA | p.R243Q | Missense | 7/9 | - | 1 |
15-55657486-C-T | c.728G>A | p.R243H | Missense | 7/9 | - | 3 |
15-55657487-G-A | c.727C>T | p.R243C | Missense | 7/9 | - | 3 |
15-55657490-T-TA | c.723_724insT | p.K242* | Nonsense | 7/9 | - | 1 |
15-55657495-A-G | c.719T>C | p.I240T | Missense | 7/9 | - | 1 |
15-55657499-G-A | c.715C>T | p.Q239* | Nonsense | 7/9 | - | 4 |
15-55663841-C-T | c.706+150G>A | - | IntronicSNV | - | 6/8 | 1 |
15-55663993-T-C | c.704A>G | p.Y235C | Missense | 6/9 | - | 9 |
15-55663995-G-A | c.702C>T | p.F234= | Synonymous | 6/9 | - | 1 |
15-55664000-G-A | c.697C>T | p.H233Y | Missense | 6/9 | - | 1 |
15-55664002-C-T | c.695G>A | p.G232D | Missense | 6/9 | - | 1 |
15-55664003-C-T | c.694G>A | p.G232S | Missense | 6/9 | - | 1 |
15-55664008-C-T | c.689G>A | p.G230E | Missense | 6/9 | - | 1 |
15-55664012-T-C | c.685A>G | p.M229V | Missense | 6/9 | - | 2 |
15-55664016-G-A | c.681C>T | p.I227= | Synonymous | 6/9 | - | 1 |
15-55664016-G-C | c.681C>G | p.I227M | Missense | 6/9 | - | 1 |
15-55664016-G-T | c.681C>A | p.I227= | Synonymous | 6/9 | - | 1 |
15-55664020-G-A | c.677C>T | p.A226V | Missense | 6/9 | - | 1 |
15-55664024-T-A | c.673A>T | p.I225F | Missense | 6/9 | - | 2 |
15-55664025-CAC-GAT | c.670_672delinsATC | p.V224I | Missense | 6/9 | - | 1 |
15-55664032-G-T | c.665C>A | p.A222D | Missense | 6/9 | - | 1 |
15-55664039-T-C | c.658A>G | p.I220V | Missense | 6/9 | - | 2 |
15-55664043-A-T | c.654T>A | p.C218* | Nonsense | 6/9 | - | 1 |
15-55664069-G-A | c.628C>T | p.Q210* | Nonsense | 6/9 | - | 1 |
15-55664072-G-A | c.625C>T | p.R209C | Missense | 6/9 | - | 2 |
15-55664073-T-C | c.624A>G | p.K208= | Synonymous | 6/9 | - | 1 |
15-55664085-C-T | c.612G>A | p.K204= | Synonymous | 6/9 | - | 3 |
15-55664087-T-A | c.610A>T | p.K204* | Nonsense | 6/9 | - | 1 |
15-55664092-G-A | c.605C>T | p.P202L | Missense | 6/9 | - | 1 |
15-55664096-C-A | c.601G>T | p.E201* | Nonsense | 6/9 | - | 1 |
15-55664101-T-C | c.596A>G | p.E199G | Missense | 6/9 | - | 1 |
15-55664110-G-C | c.587C>G | p.A196G | Missense | 6/9 | - | 7 |
15-55664111-C-G | c.586G>C | p.A196P | Missense | 6/9 | - | 1 |
15-55664119-C-T | c.578G>A | p.R193Q | Missense | 6/9 | - | 1 |
15-55664120-G-A | c.577C>T | p.R193W | Missense | 6/9 | - | 4 |
15-55664120-G-T | c.577C>A | p.R193= | Synonymous | 6/9 | - | 1 |
15-55664125-T-C | c.572A>G | p.E191G | Missense | 6/9 | - | 1 |
15-55664133-T-A | c.564A>T | p.S188= | Synonymous | 6/9 | - | 1 |
15-55664133-T-C | c.564A>G | p.S188= | Synonymous | 6/9 | - | 1 |
15-55664133-T-G | c.564A>C | p.S188= | Synonymous | 6/9 | - | 2 |
15-55664134-G-A | c.563C>T | p.S188L | Missense | 6/9 | - | 1 |
15-55664137-G-T | c.560C>A | p.A187D | Missense | 6/9 | - | 1 |
15-55664140-G-C | c.557C>G | p.S186C | Missense | 6/9 | - | 2 |
15-55664144-C-G | c.553G>C | p.V185L | Missense | 6/9 | - | 1 |
15-55664144-C-T | c.553G>A | p.V185I | Missense | 6/9 | - | 2 |
15-55664145-GG-CT | c.551_552delinsAG | p.T184K | Missense | 6/9 | - | 1 |
15-55664150-T-C | c.547A>G | p.K183E | Missense | 6/9 | - | 1 |
15-55664153-T-C | c.544A>G | p.K182E | Missense | 6/9 | - | 1 |
15-55664154-CCT-ATG | c.541_543delinsCAT | p.R181H | Missense | 6/9 | - | 1 |
15-55664156-T-A | c.541A>T | p.R181W | Missense | 6/9 | - | 3 |
15-55664157-A-G | c.540T>C | p.A180= | Synonymous | 6/9 | - | 1 |
15-55664161-C-T | c.536G>A | p.R179H | Missense | 6/9 | - | 3 |
15-55664164-C-G | c.533G>C | p.R178P | Missense | 6/9 | - | 1 |
15-55664165-G-A | c.532C>T | p.R178C | Missense | 6/9 | - | 1 |
15-55664175-G-A | c.522C>T | p.A174= | Synonymous | 6/9 | - | 3 |
15-55664176-G-A | c.521C>T | p.A174V | Missense | 6/9 | - | 1 |
15-55664177-C-T | c.520G>A | p.A174T | Missense | 6/9 | - | 1 |
15-55664182-C-T | c.515G>A | p.S172N | Missense | 6/9 | - | 1 |
15-55664189-G-C | c.508C>G | p.Q170E | Missense | 6/9 | - | 1 |
15-55664196-G-A | c.501C>T | p.T167= | Synonymous | 6/9 | - | 3 |
15-55664201-C-A | c.496G>T | p.E166* | Nonsense | 6/9 | - | 1 |
15-55664204-C-T | c.493G>A | p.D165N | Missense | 6/9 | - | 2 |
15-55664209-C-T | c.488G>A | p.S163N | Missense | 6/9 | - | 1 |
15-55664212-G-A | c.485C>T | p.S162L | Missense | 6/9 | - | 1 |
15-55664215-T-A | c.482A>T | p.E161V | Missense | 6/9 | - | 3 |
15-55664215-T-C | c.482A>G | p.E161G | Missense | 6/9 | - | 1 |
15-55664219-C-T | c.478G>A | p.D160N | Missense | 6/9 | - | 1 |
15-55664220-G-A | c.477C>T | p.D159= | Synonymous | 6/9 | - | 4 |
15-55664220-G-C | c.477C>G | p.D159E | Missense | 6/9 | - | 2 |
15-55664222-C-A | c.475G>T | p.D159Y | Missense | 6/9 | - | 1 |
15-55664227-G-C | c.470C>G | p.P157R | Missense | 6/9 | - | 1 |
15-55664228-G-T | c.469C>A | p.P157T | Missense | 6/9 | - | 1 |
15-55664231-G-A | c.466C>T | p.Q156* | Nonsense | 6/9 | - | 1 |
15-55664233-G-A | c.464C>T | p.S155F | Missense | 6/9 | - | 1 |
15-55664234-A-G | c.463T>C | p.S155P | Missense | 6/9 | - | 1 |
15-55664241-T-A | c.456A>T | p.V152= | Synonymous | 6/9 | - | 1 |
15-55664241-T-C | c.456A>G | p.V152= | Synonymous | 6/9 | - | 1 |
15-55664241-T-G | c.456A>C | p.V152= | Synonymous | 6/9 | - | 1 |
15-55667886-CTT-C | c.454+1259_454+1260del | - | IntronicDeletion | - | 5/8 | 1 |
15-55669081-G-C | c.454+66C>G | - | IntronicSNV | - | 5/8 | 2 |
15-55669136-T-G | c.454+11A>C | - | IntronicSNV | - | 5/8 | 1 |
15-55669137-G-T | c.454+10C>A | - | IntronicSNV | - | 5/8 | 1 |
15-55669150-T-C | c.451A>G | p.T151A | Missense | 5/9 | - | 2 |
15-55669161-C-T | c.440G>A | p.C147Y | Missense | 5/9 | - | 3 |
15-55669168-T-C | c.433A>G | p.T145A | Missense | 5/9 | - | 1 |
15-55669169-A-G | c.432T>C | p.Y144= | Synonymous | 5/9 | - | 3 |
15-55669172-C-A | c.429G>T | p.Q143H | Missense | 5/9 | - | 1 |
15-55669172-C-G | c.429G>C | p.Q143H | Missense | 5/9 | - | 1 |
15-55669173-T-A | c.428A>T | p.Q143L | Missense | 5/9 | - | 1 |
15-55669178-G-A | c.423C>T | p.S141= | Synonymous | 5/9 | - | 1 |
15-55669182-G-A | c.419C>T | p.S140F | Missense | 5/9 | - | 1 |
15-55669182-G-C | c.419C>G | p.S140C | Missense | 5/9 | - | 7 |
15-55669185-G-A | c.416C>T | p.S139F | Missense | 5/9 | - | 3 |
15-55669185-GA-AG | c.415_416delinsCT | p.S139L | Missense | 5/9 | - | 1 |
15-55669190-G-A | c.411C>T | p.G137= | Synonymous | 5/9 | - | 1 |
15-55669190-G-C | c.411C>G | p.G137= | Synonymous | 5/9 | - | 1 |
15-55669190-G-T | c.411C>A | p.G137= | Synonymous | 5/9 | - | 1 |
15-55669192-C-T | c.409G>A | p.G137S | Missense | 5/9 | - | 1 |
15-55669195-T-C | c.406A>G | p.M136V | Missense | 5/9 | - | 1 |
15-55669217-T-A | c.384A>T | p.A128= | Synonymous | 5/9 | - | 1 |
15-55669217-T-C | c.384A>G | p.A128= | Synonymous | 5/9 | - | 1 |
15-55669217-T-G | c.384A>C | p.A128= | Synonymous | 5/9 | - | 1 |
15-55669227-A-T | c.374T>A | p.V125D | Missense | 5/9 | - | 1 |
15-55669232-GAC-CAT | c.367_369delinsATG | p.V123M | Missense | 5/9 | - | 1 |
15-55669234-C-T | c.367G>A | p.V123I | Missense | 5/9 | - | 1 |
15-55669237-C-T | c.364G>A | p.V122I | Missense | 5/9 | - | 2 |
15-55669238-T-A | c.363A>T | p.E121D | Missense | 5/9 | - | 3 |
15-55669238-T-G | c.363A>C | p.E121D | Missense | 5/9 | - | 4 |
15-55669244-A-C | c.357T>G | p.N119K | Missense | 5/9 | - | 3 |
15-55669244-A-T | c.357T>A | p.N119K | Missense | 5/9 | - | 2 |
15-55669247-T-G | c.354A>C | p.G118= | Synonymous | 5/9 | - | 1 |
15-55669255-C-T | c.346G>A | p.E116K | Missense | 5/9 | - | 1 |
15-55669263-T-C | c.338A>G | p.K113R | Missense | 5/9 | - | 1 |
15-55669263-T-G | c.338A>C | p.K113T | Missense | 5/9 | - | 2 |
15-55669266-G-A | c.335C>T | p.P112L | Missense | 5/9 | - | 1 |
15-55669267-G-C | c.334C>G | p.P112A | Missense | 5/9 | - | 1 |
15-55669270-G-T | c.331C>A | p.P111T | Missense | 5/9 | - | 1 |
15-55669275-AG-GC | c.325_326delinsGC | p.L109A | Missense | 5/9 | - | 1 |
15-55669276-G-A | c.325C>T | p.L109F | Missense | 5/9 | - | 1 |
15-55669279-T-C | c.322A>G | p.T108A | Missense | 5/9 | - | 1 |
15-55669281-A-G | c.320T>C | p.V107A | Missense | 5/9 | - | 3 |
15-55669284-A-C | c.317T>G | p.I106S | Missense | 5/9 | - | 1 |
15-55669284-AT-GC | c.316_317delinsGC | p.I106A | Missense | 5/9 | - | 1 |
15-55669287-T-G | c.314A>C | p.D105A | Missense | 5/9 | - | 1 |
15-55669289-AGA-CTC | c.310_312delinsGAG | p.S104E | Missense | 5/9 | - | 1 |
15-55669290-G-A | c.311C>T | p.S104F | Missense | 5/9 | - | 1 |
15-55669291-A-C | c.310T>G | p.S104A | Missense | 5/9 | - | 1 |
15-55669302-G-T | c.299C>A | p.A100D | Missense | 5/9 | - | 1 |
15-55669303-C-A | c.298G>T | p.A100S | Missense | 5/9 | - | 1 |
15-55669316-G-A | c.285C>T | p.I95= | Synonymous | 5/9 | - | 2 |
15-55669316-G-T | c.285C>A | p.I95= | Synonymous | 5/9 | - | 1 |
15-55669327-C-T | c.274G>A | p.E92K | Missense | 5/9 | - | 3 |
15-55669328-G-A | c.273C>T | p.P91= | Synonymous | 5/9 | - | 3 |
15-55669328-G-C | c.273C>G | p.P91= | Synonymous | 5/9 | - | 1 |
15-55669328-G-T | c.273C>A | p.P91= | Synonymous | 5/9 | - | 1 |
15-55669329-G-A | c.272C>T | p.P91L | Missense | 5/9 | - | 1 |
15-55669330-G-A | c.271C>T | p.P91S | Missense | 5/9 | - | 1 |
15-55669336-T-A | c.265A>T | p.K89* | Nonsense | 5/9 | - | 1 |
15-55669345-C-T | c.256G>A | p.E86K | Missense | 5/9 | - | 1 |
15-55670482-GTAAAATACAAGTTTA-G | c.252+2_252+16del | - | IntronicDeletion | - | 4/8 | 1 |
15-55670508-G-C | c.242C>G | p.S81* | Nonsense | 4/9 | - | 3 |
15-55670508-G-T | c.242C>A | p.S81* | Nonsense | 4/9 | - | 2 |
15-55670510-G-A | c.240C>T | p.S80= | Synonymous | 4/9 | - | 2 |
15-55670515-T-G | c.235A>C | p.T79P | Missense | 4/9 | - | 2 |
15-55670514-GT-G | c.235del | p.T79Pfs*36 | Frameshift | 4/9 | - | 1 |
15-55670518-C-A | c.232G>T | p.E78* | Nonsense | 4/9 | - | 1 |
15-55670518-C-T | c.232G>A | p.E78K | Missense | 4/9 | - | 1 |
15-55670521-C-T | c.229G>A | p.E77K | Missense | 4/9 | - | 2 |
15-55670526-G-C | c.224C>G | p.A75G | Missense | 4/9 | - | 1 |
15-55670528-T-A | c.222A>T | p.P74= | Synonymous | 4/9 | - | 2 |
15-55670542-C-A | c.208G>T | p.E70* | Nonsense | 4/9 | - | 2 |
15-55670542-C-G | c.208G>C | p.E70Q | Missense | 4/9 | - | 1 |
15-55670544-T-C | c.206A>G | p.E69G | Missense | 4/9 | - | 1 |
15-55670551-G-A | c.199C>T | p.L67F | Missense | 4/9 | - | 2 |
15-55670567-G-A | c.183C>T | p.S61= | Synonymous | 4/9 | - | 1 |
15-55670572-T-A | c.178A>T | p.S60C | Missense | 4/9 | - | 1 |
15-55677765-TA-T | c.175+32del | - | IntronicDeletion | - | 3/8 | 2 |
15-55677765-T-TA | c.175+32dup | - | IntronicInsertion | - | 3/8 | 1 |
15-55677809-A-G | c.164T>C | p.I55T | Missense | 3/9 | - | 1 |
15-55677822-G-A | c.151C>T | p.Q51* | Nonsense | 3/9 | - | 1 |
15-55677832-T-C | c.141A>G | p.Q47= | Synonymous | 3/9 | - | 4 |
15-55677834-G-A | c.139C>T | p.Q47* | Nonsense | 3/9 | - | 1 |
15-55677835-C-A | c.138G>T | p.E46D | Missense | 3/9 | - | 1 |
15-55677835-C-G | c.138G>C | p.E46D | Missense | 3/9 | - | 1 |
15-55677840-A-G | c.133T>C | p.L45= | Synonymous | 3/9 | - | 1 |
15-55677842-G-T | c.131C>A | p.S44Y | Missense | 3/9 | - | 2 |
15-55677843-A-G | c.130T>C | p.S44P | Missense | 3/9 | - | 3 |
15-55677852-C-T | c.121G>A | p.E41K | Missense | 3/9 | - | 1 |
15-55677854-G-T | c.119C>A | p.P40Q | Missense | 3/9 | - | 1 |
15-55677858-C-T | c.115G>A | p.A39T | Missense | 3/9 | - | 3 |
15-55677861-G-A | c.112C>T | p.P38S | Missense | 3/9 | - | 1 |
15-55677862-C-A | c.111G>T | p.E37D | Missense | 3/9 | - | 1 |
15-55677862-C-G | c.111G>C | p.E37D | Missense | 3/9 | - | 1 |
15-55677868-G-C | c.105C>G | p.S35R | Missense | 3/9 | - | 1 |
15-55677868-G-T | c.105C>A | p.S35R | Missense | 3/9 | - | 1 |
15-55677870-T-G | c.103A>C | p.S35R | Missense | 3/9 | - | 1 |
15-55677870-T-A | c.103A>T | p.S35C | Missense | 3/9 | - | 2 |
15-55677871-G-C | c.102C>G | p.D34E | Missense | 3/9 | - | 1 |
15-55677871-G-T | c.102C>A | p.D34E | Missense | 3/9 | - | 1 |
15-55677878-G-C | c.95C>G | p.P32R | Missense | 3/9 | - | 1 |
15-55677880-G-A | c.93C>T | p.T31= | Synonymous | 3/9 | - | 1 |
15-55677881-G-A | c.92C>T | p.T31I | Missense | 3/9 | - | 1 |
15-55677881-G-C | c.92C>G | p.T31S | Missense | 3/9 | - | 4 |
15-55677882-T-A | c.91A>T | p.T31S | Missense | 3/9 | - | 6 |
15-55677887-G-A | c.86C>T | p.S29F | Missense | 3/9 | - | 2 |
15-55677892-C-A | c.81G>T | p.L27F | Missense | 3/9 | - | 1 |
15-55677892-C-G | c.81G>C | p.L27F | Missense | 3/9 | - | 1 |
15-55677893-AA-GC | c.79_80delinsGC | p.L27A | Missense | 3/9 | - | 1 |
15-55677899-T-C | c.74A>G | p.E25G | Missense | 3/9 | - | 1 |
15-55677900-C-A | c.73G>T | p.E25* | Nonsense | 3/9 | - | 3 |
15-55677900-C-T | c.73G>A | p.E25K | Missense | 3/9 | - | 3 |
15-55677902-AT-GC | c.70_71delinsGC | p.I24A | Missense | 3/9 | - | 1 |
15-55677908-G-A | c.65C>T | p.S22L | Missense | 3/9 | - | 1 |
15-55677908-G-C | c.65C>G | p.S22* | Nonsense | 3/9 | - | 3 |
15-55677908-G-T | c.65C>A | p.S22* | Nonsense | 3/9 | - | 4 |
15-55677909-A-C | c.64T>G | p.S22A | Missense | 3/9 | - | 1 |
15-55677909-A-G | c.64T>C | p.S22P | Missense | 3/9 | - | 1 |
15-55681562-C-T | c.60+1G>A | - | IntronicSNV | - | 2/8 | 1 |
15-55681565-C-A | c.58G>T | p.E20* | Nonsense | 2/9 | - | 1 |
15-55681570-CT-GC | c.52_53delinsGC | p.S18A | Missense | 2/9 | - | 1 |
15-55681572-GAT-TTG | c.49_51delinsCAA | p.I17Q | Missense | 2/9 | - | 1 |
15-55681582-CA-GC | c.40_41delinsGC | p.W14A | Missense | 2/9 | - | 1 |
15-55681583-A-G | c.40T>C | p.W14R | Missense | 2/9 | - | 1 |
15-55681583-A-T | c.40T>A | p.W14R | Missense | 2/9 | - | 1 |
15-55681585-C-T | c.38G>A | p.G13D | Missense | 2/9 | - | 1 |
15-55681586-C-G | c.37G>C | p.G13R | Missense | 2/9 | - | 1 |
15-55681586-C-T | c.37G>A | p.G13S | Missense | 2/9 | - | 1 |
15-55681587-A-G | c.36T>C | p.C12= | Synonymous | 2/9 | - | 1 |
15-55681591-G-C | c.32C>G | p.S11C | Missense | 2/9 | - | 1 |
15-55681592-A-C | c.31T>G | p.S11A | Missense | 2/9 | - | 1 |
15-55681593-TG-AA | c.29_30delinsTT | p.S10F | Missense | 2/9 | - | 1 |
15-55681593-TG-AC | c.29_30delinsGT | p.S10C | Missense | 2/9 | - | 1 |
15-55681593-TGA-GTC | c.28_30delinsGAC | p.S10D | Missense | 2/9 | - | 1 |
15-55681594-GA-CC | c.28_29delinsGG | p.S10G | Missense | 2/9 | - | 1 |
15-55681594-GA-TC | c.28_29inv | p.S10E | Missense | 2/9 | - | 1 |
15-55681595-A-C | c.28T>G | p.S10A | Missense | 2/9 | - | 2 |
15-55681598-C-T | c.25G>A | p.D9N | Missense | 2/9 | - | 1 |
15-55681606-C-A | c.17G>T | p.S6I | Missense | 2/9 | - | 1 |
15-55681608-G-T | c.15C>A | p.S5= | Synonymous | 2/9 | - | 3 |
15-55681609-G-A | c.14C>T | p.S5F | Missense | 2/9 | - | 1 |
15-55681609-GA-CC | c.13_14delinsGG | p.S5G | Missense | 2/9 | - | 1 |
15-55681618-G-T | c.5C>A | p.S2Y | Missense | 2/9 | - | 1 |
15-55681620-C-A | c.3G>T | p.M1? | Missense | 2/9 | - | 3 |
15-55681620-C-G | c.3G>C | p.M1? | Missense | 2/9 | - | 3 |
15-55681620-C-T | c.3G>A | p.M1? | Missense | 2/9 | - | 2 |
15-55681622-T-A | c.1A>T | p.M1? | Missense | 2/9 | - | 1 |