Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
21-27253014-C-A | c.*967G>T | - | 3-UTRSNV | 18/18 | - | 1 |
21-27253014-C-T | c.*967G>A | - | 3-UTRSNV | 18/18 | - | 1 |
21-27253044-C-T | c.*937G>A | - | 3-UTRSNV | 18/18 | - | 1 |
21-27253067-C-T | c.*914G>A | - | 3-UTRSNV | 18/18 | - | 1 |
21-27253148-T-C | c.*833A>G | - | 3-UTRSNV | 18/18 | - | 1 |
21-27253148-T-G | c.*833A>C | - | 3-UTRSNV | 18/18 | - | 1 |
21-27253609-T-C | c.*372A>G | - | 3-UTRSNV | 18/18 | - | 1 |
21-27253963-G-A | c.*18C>T | - | 3-UTRSNV | 18/18 | - | 1 |
21-27254006-T-C | c.2288A>G | p.Lys763Arg | Missense | 18/18 | - | 1 |
21-27254024-TA-GC | c.2269_2270delinsGC | p.Tyr757Ala | Missense | 18/18 | - | 1 |
21-27254042-T-C | c.2252A>G | p.Lys751Arg | Missense | 18/18 | - | 1 |
21-27254045-G-C | c.2249C>G | p.Ser750Cys | Missense | 18/18 | - | 1 |
21-27254073-C-A | c.2221G>T | p.Ala741Ser | Missense | 18/18 | - | 2 |
21-27254092-CAA-C | c.2212-11_2212-10del | - | IntronicDeletion | - | 17/17 | 1 |
21-27254279-C-G | c.2212-197G>C | - | IntronicSNV | - | 17/17 | 2 |
21-27255117-A-C | c.2212-1035T>G | - | IntronicSNV | - | 17/17 | 1 |
21-27255117-A-G | c.2212-1035T>C | - | IntronicSNV | - | 17/17 | 1 |
21-27257660-C-A | c.2212-3578G>T | - | IntronicSNV | - | 17/17 | 1 |
21-27257660-C-G | c.2212-3578G>C | - | IntronicSNV | - | 17/17 | 1 |
21-27260014-C-T | c.2211+4020G>A | - | IntronicSNV | - | 17/17 | 1 |
21-27260456-A-G | c.2211+3578T>C | - | IntronicSNV | - | 17/17 | 1 |
21-27260456-A-T | c.2211+3578T>A | - | IntronicSNV | - | 17/17 | 1 |
21-27264047-T-G | c.2198A>C | p.His733Pro | Missense | 17/18 | - | 2 |
21-27264056-G-C | c.2189C>G | p.Ser730Cys | Missense | 17/18 | - | 2 |
21-27264068-T-C | c.2177A>G | p.Lys726Arg | Missense | 17/18 | - | 1 |
21-27264071-T-C | c.2174A>G | p.Lys725Arg | Missense | 17/18 | - | 1 |
21-27264073-C-G | c.2172G>C | p.Lys724Asn | Missense | 17/18 | - | 17 |
21-27264074-T-A | c.2171A>T | p.Lys724Met | Missense | 17/18 | - | 2 |
21-27264074-T-C | c.2171A>G | p.Lys724Arg | Missense | 17/18 | - | 1 |
21-27264076-CAG-TGT | c.2167_2169delinsACA | p.Leu723Thr | Missense | 17/18 | - | 1 |
21-27264077-A-C | c.2168T>G | p.Leu723Arg | Missense | 17/18 | - | 2 |
21-27264077-A-G | c.2168T>C | p.Leu723Pro | Missense | 17/18 | - | 19 |
21-27264080-A-T | c.2165T>A | p.Met722Lys | Missense | 17/18 | - | 3 |
21-27264083-AC-AA | c.2161delinsT | p.Val721Leu | Missense | 17/18 | - | 2 |
21-27264086-AA-CC | c.2158_2159delinsGG | p.Leu720Gly | Missense | 17/18 | - | 2 |
21-27264086-A-G | c.2159T>C | p.Leu720Ser | Missense | 17/18 | - | 5 |
21-27264089-G-T | c.2156C>A | p.Thr719Asn | Missense | 17/18 | - | 4 |
21-27264090-T-G | c.2155A>C | p.Thr719Pro | Missense | 17/18 | - | 6 |
21-27264093-T-G | c.2152A>C | p.Ile718Leu | Missense | 17/18 | - | 5 |
21-27264094-G-A | c.2151C>T | p.Val717Val | Synonymous | 17/18 | - | 1 |
21-27264094-GAC-TGG | c.2149_2151delinsCCA | p.Val717Pro | Missense | 17/18 | - | 1 |
21-27264094-G-C | c.2151C>G | p.Val717Val | Synonymous | 17/18 | - | 1 |
21-27264094-G-T | c.2151C>A | p.Val717Val | Synonymous | 17/18 | - | 1 |
21-27264095-A-C | c.2150T>G | p.Val717Gly | Missense | 17/18 | - | 30 |
21-27264095-AC-CG | c.2149_2150delinsCG | p.Val717Arg | Missense | 17/18 | - | 1 |
21-27264095-A-G | c.2150T>C | p.Val717Ala | Missense | 17/18 | - | 2 |
21-27264096-C-A | c.2149G>T | p.Val717Phe | Missense | 17/18 | - | 651 |
21-27264096-C-G | c.2149G>C | p.Val717Leu | Missense | 17/18 | - | 57 |
21-27264096-C-T | c.2149G>A | p.Val717Ile | Missense | 17/18 | - | 603 |
21-27264097-G-C | c.2148C>G | p.Ile716Met | Missense | 17/18 | - | 3 |
21-27264098-A-G | c.2147T>C | p.Ile716Thr | Missense | 17/18 | - | 13 |
21-27264099-T-A | c.2146A>T | p.Ile716Phe | Missense | 17/18 | - | 38 |
21-27264099-T-C | c.2146A>G | p.Ile716Val | Missense | 17/18 | - | 258 |
21-27264100-CAC-ATC | c.2144_2145delinsAT | p.Val715Asp | Missense | 17/18 | - | 1 |
21-27264100-CAC-TTT | c.2143_2145delinsAAA | p.Val715Lys | Missense | 17/18 | - | 5 |
21-27264101-A-G | c.2144T>C | p.Val715Ala | Missense | 17/18 | - | 13 |
21-27264102-C-T | c.2143G>A | p.Val715Met | Missense | 17/18 | - | 24 |
21-27264104-G-A | c.2141C>T | p.Thr714Ile | Missense | 17/18 | - | 40 |
21-27264104-GT-CT | c.2141delinsG | p.Thr714Arg | Missense | 17/18 | - | 1 |
21-27264105-T-C | c.2140A>G | p.Thr714Ala | Missense | 17/18 | - | 13 |
21-27264106-CGC-TTT | c.2137_2139delinsAAA | p.Ala713Lys | Missense | 17/18 | - | 1 |
21-27264107-G-A | c.2138C>T | p.Ala713Val | Missense | 17/18 | - | 2 |
21-27264108-C-T | c.2137G>A | p.Ala713Thr | Missense | 17/18 | - | 28 |
21-27264114-C-A | c.2131G>T | p.Val711Phe | Missense | 17/18 | - | 1 |
21-27264116-A-C | c.2129T>G | p.Val710Gly | Missense | 17/18 | - | 5 |
21-27264119-CC-TT | c.2125_2126delinsAA | p.Gly709Asn | Missense | 17/18 | - | 1 |
21-27264120-C-A | c.2125G>T | p.Gly709Cys | Missense | 17/18 | - | 1 |
21-27264120-C-T | c.2125G>A | p.Gly709Ser | Missense | 17/18 | - | 3 |
21-27264121-G-A | c.2124C>T | p.Gly708Gly | Synonymous | 17/18 | - | 4 |
21-27264122-CC-CT | c.2122delinsA | p.Gly708Ser | Missense | 17/18 | - | 1 |
21-27264123-C-A | c.2122G>T | p.Gly708Cys | Missense | 17/18 | - | 1 |
21-27264124-CAC-TTT | c.2119_2121delinsAAA | p.Val707Lys | Missense | 17/18 | - | 1 |
21-27264130-G-A | c.2115C>T | p.Leu705Leu | Synonymous | 17/18 | - | 1 |
21-27264131-AG-TG | c.2114delinsA | p.Leu705His | Missense | 17/18 | - | 1 |
21-27264132-G-C | c.2113C>G | p.Leu705Val | Missense | 17/18 | - | 8 |
21-27264133-TCC-TGT | c.2110_2111delinsAC | p.Gly704Thr | Missense | 17/18 | - | 1 |
21-27264134-CC-CT | c.2110delinsA | p.Gly704Arg | Missense | 17/18 | - | 2 |
21-27264137-AT-GC | c.2107_2108delinsGC | p.Ile703Ala | Missense | 17/18 | - | 1 |
21-27264137-AT-TG | c.2107_2108delinsCA | p.Ile703His | Missense | 17/18 | - | 1 |
21-27264138-T-A | c.2107A>T | p.Ile703Phe | Missense | 17/18 | - | 1 |
21-27264140-AT-TG | c.2104_2105delinsCA | p.Ile702His | Missense | 17/18 | - | 1 |
21-27264141-T-A | c.2104A>T | p.Ile702Phe | Missense | 17/18 | - | 1 |
21-27264142-TGC-TTT | c.2101_2102delinsAA | p.Ala701Lys | Missense | 17/18 | - | 1 |
21-27264145-ACC-TGG | c.2098_2100delinsCCA | p.Gly700Pro | Missense | 17/18 | - | 1 |
21-27264146-CC-CT | c.2098delinsA | p.Gly700Ser | Missense | 17/18 | - | 2 |
21-27264146-CC-TT | c.2098_2099delinsAA | p.Gly700Asn | Missense | 17/18 | - | 1 |
21-27264146-C-G | c.2099G>C | p.Gly700Ala | Missense | 17/18 | - | 3 |
21-27264147-C-A | c.2098G>T | p.Gly700Cys | Missense | 17/18 | - | 2 |
21-27264150-T-C | c.2095A>G | p.Lys699Glu | Missense | 17/18 | - | 1 |
21-27264150-T-TT | c.2097dup | p.Gly700Argfs*40 | Frameshift | 17/18 | - | 1 |
21-27264154-TG-GT | c.2090_2091delinsAC | p.Ser697Tyr | Missense | 17/18 | - | 1 |
21-27264160-CAC-TGT | c.2083_2085delinsACA | p.Val695Thr | Missense | 17/18 | - | 1 |
21-27264162-C-T | c.2083G>A | p.Val695Met | Missense | 17/18 | - | 1 |
21-27264165-C-T | c.2080G>A | p.Asp694Asn | Missense | 17/18 | - | 86 |
21-27264166-T-A | c.2079A>T | p.Glu693Asp | Missense | 17/18 | - | 8 |
21-27264166-T-G | c.2079A>C | p.Glu693Asp | Missense | 17/18 | - | 8 |
21-27264166-TTC-AAC | c.2078_2079delinsTT | p.Glu693Val | Missense | 17/18 | - | 1 |
21-27264166-TTC-TGT | c.2077_2078delinsAC | p.Glu693Thr | Missense | 17/18 | - | 1 |
21-27264167-T-A | c.2078A>T | p.Glu693Val | Missense | 17/18 | - | 1 |
21-27264167-T-C | c.2078A>G | p.Glu693Gly | Missense | 17/18 | - | 123 |
21-27264167-TC-CC | c.2078delinsG | p.Glu693Gly | Missense | 17/18 | - | 1 |
21-27264167-T-G | c.2078A>C | p.Glu693Ala | Missense | 17/18 | - | 1 |
21-27264167-TTCT-T | c.2079_2081del | p.Glu693del | InFrameDeletion | 17/18 | - | 12 |
21-27264168-C-G | c.2077G>C | p.Glu693Gln | Missense | 17/18 | - | 161 |
21-27264168-C-T | c.2077G>A | p.Glu693Lys | Missense | 17/18 | - | 33 |
21-27264170-G-C | c.2075C>G | p.Ala692Gly | Missense | 17/18 | - | 40 |
21-27264173-AA-GC | c.2071_2072delinsGC | p.Phe691Ala | Missense | 17/18 | - | 1 |
21-27264176-AA-CC | c.2068_2069delinsGG | p.Phe690Gly | Missense | 17/18 | - | 2 |
21-27264176-AA-GC | c.2068_2069delinsGC | p.Phe690Ala | Missense | 17/18 | - | 1 |
21-27264176-A-G | c.2069T>C | p.Phe690Ser | Missense | 17/18 | - | 1 |
21-27266763-C-G | c.2065-2583G>C | - | IntronicSNV | - | 16/17 | 2 |
21-27266763-C-T | c.2065-2583G>A | - | IntronicSNV | - | 16/17 | 2 |
21-27269888-T-A | c.2061A>T | p.Lys687Asn | Missense | 16/18 | - | 8 |
21-27269888-T-G | c.2061A>C | p.Lys687Asn | Missense | 16/18 | - | 8 |
21-27269890-T-G | c.2059A>C | p.Lys687Gln | Missense | 16/18 | - | 1 |
21-27269891-TTG-TGT | c.2056_2057delinsAC | p.Gln686Thr | Missense | 16/18 | - | 1 |
21-27269898-T-C | c.2051A>G | p.His684Arg | Missense | 16/18 | - | 3 |
21-27269903-TTC-AAC | c.2045_2046delinsTT | p.Glu682Val | Missense | 16/18 | - | 1 |
21-27269904-T-A | c.2045A>T | p.Glu682Val | Missense | 16/18 | - | 1 |
21-27269904-T-G | c.2045A>C | p.Glu682Ala | Missense | 16/18 | - | 1 |
21-27269905-C-T | c.2044G>A | p.Glu682Lys | Missense | 16/18 | - | 15 |
21-27269907-TA-GC | c.2041_2042delinsGC | p.Tyr681Ala | Missense | 16/18 | - | 1 |
21-27269915-G-A | c.2034C>T | p.Asp678Asp | Synonymous | 16/18 | - | 1 |
21-27269917-C-G | c.2032G>C | p.Asp678His | Missense | 16/18 | - | 10 |
21-27269917-C-T | c.2032G>A | p.Asp678Asn | Missense | 16/18 | - | 12 |
21-27269919-T-C | c.2030A>G | p.His677Arg | Missense | 16/18 | - | 6 |
21-27269925-A-C | c.2024T>G | p.Phe675Cys | Missense | 16/18 | - | 1 |
21-27269928-T-C | c.2021A>G | p.Glu674Gly | Missense | 16/18 | - | 1 |
21-27269929-C-T | c.2020G>A | p.Glu674Lys | Missense | 16/18 | - | 1 |
21-27269931-G-A | c.2018C>T | p.Ala673Val | Missense | 16/18 | - | 75 |
21-27269931-GC-CT | c.2017_2018delinsAG | p.Ala673Arg | Missense | 16/18 | - | 1 |
21-27269932-C-T | c.2017G>A | p.Ala673Thr | Missense | 16/18 | - | 166 |
21-27269936-CA-AC | c.2012_2013delinsGT | p.Met671Ser | Missense | 16/18 | - | 2 |
21-27269938-T-A | c.2011A>T | p.Met671Leu | Missense | 16/18 | - | 415 |
21-27269938-T-C | c.2011A>G | p.Met671Val | Missense | 16/18 | - | 6 |
21-27269938-T-G | c.2011A>C | p.Met671Leu | Missense | 16/18 | - | 415 |
21-27269939-C-A | c.2010G>T | p.Lys670Asn | Missense | 16/18 | - | 904 |
21-27269939-C-G | c.2010G>C | p.Lys670Asn | Missense | 16/18 | - | 904 |
21-27269939-CTT-GAC | c.2008_2010delinsGTC | p.Lys670Val | Missense | 16/18 | - | 2 |
21-27269940-T-A | c.2009A>T | p.Lys670Met | Missense | 16/18 | - | 143 |
21-27269940-TT-CT | c.2009delinsG | p.Lys670Arg | Missense | 16/18 | - | 5 |
21-27269944-C-G | c.2005G>C | p.Val669Leu | Missense | 16/18 | - | 2 |
21-27269954-C-A | c.1995G>T | p.Glu665Asp | Missense | 16/18 | - | 3 |
21-27269954-C-G | c.1995G>C | p.Glu665Asp | Missense | 16/18 | - | 3 |
21-27269958-CTCC-C | c.1993_1995del | p.Glu665del | InFrameDeletion | 16/18 | - | 1 |
21-27269961-G-A | c.1988C>T | p.Thr663Met | Missense | 16/18 | - | 3 |
21-27269971-T-A | c.1978A>T | p.Asn660Tyr | Missense | 16/18 | - | 5 |
21-27269983-A-C | c.1966T>G | p.Ser656Ala | Missense | 16/18 | - | 1 |
21-27272159-T-C | c.1964-2174A>G | - | IntronicSNV | - | 15/17 | 4 |
21-27274089-T-G | c.1963+3247A>C | - | IntronicSNV | - | 15/17 | 2 |
21-27277348-T-C | c.1951A>G | p.Thr651Ala | Missense | 15/18 | - | 1 |
21-27277885-T-C | c.1910-496A>G | - | IntronicSNV | - | 14/17 | 1 |
21-27280038-C-A | c.1910-2649G>T | - | IntronicSNV | - | 14/17 | 2 |
21-27280038-C-T | c.1910-2649G>A | - | IntronicSNV | - | 14/17 | 2 |
21-27281177-A-G | c.1909+2876T>C | - | IntronicSNV | - | 14/17 | 1 |
21-27284088-CC-AA | c.1873_1874delinsTT | p.Gly625Leu | Missense | 14/18 | - | 1 |
21-27284088-CC-CT | c.1873delinsA | p.Gly625Arg | Missense | 14/18 | - | 1 |
21-27284088-C-G | c.1874G>C | p.Gly625Ala | Missense | 14/18 | - | 2 |
21-27284089-C-A | c.1873G>T | p.Gly625Trp | Missense | 14/18 | - | 1 |
21-27284103-G-A | c.1859C>T | p.Pro620Leu | Missense | 14/18 | - | 4 |
21-27284104-G-C | c.1858C>G | p.Pro620Ala | Missense | 14/18 | - | 3 |
21-27284122-T-C | c.1840A>G | p.Ser614Gly | Missense | 14/18 | - | 3 |
21-27284130-C-G | c.1832G>C | p.Gly611Ala | Missense | 14/18 | - | 1 |
21-27284140-G-C | c.1822C>G | p.Pro608Ala | Missense | 14/18 | - | 1 |
21-27284152-C-T | c.1810G>A | p.Val604Met | Missense | 14/18 | - | 3 |
21-27284163-G-A | c.1799C>T | p.Thr600Met | Missense | 14/18 | - | 3 |
21-27284167-C-T | c.1795G>A | p.Glu599Lys | Missense | 14/18 | - | 11 |
21-27284211-G-C | c.1751C>G | p.Pro584Arg | Missense | 14/18 | - | 1 |
21-27284214-T-C | c.1748A>G | p.Glu583Gly | Missense | 14/18 | - | 1 |
21-27284232-A-C | c.1730T>G | p.Leu577Trp | Missense | 14/18 | - | 1 |
21-27285105-T-A | c.1688-831A>T | - | IntronicSNV | - | 13/17 | 1 |
21-27285105-T-G | c.1688-831A>C | - | IntronicSNV | - | 13/17 | 1 |
21-27287924-G-A | c.1688-3650C>T | - | IntronicSNV | - | 13/17 | 1 |
21-27287924-G-T | c.1688-3650C>A | - | IntronicSNV | - | 13/17 | 1 |
21-27298769-A-G | c.1688-14495T>C | - | IntronicSNV | - | 13/17 | 2 |
21-27304252-C-T | c.1688-19978G>A | - | IntronicSNV | - | 13/17 | 1 |
21-27312487-A-G | c.1687+14417T>C | - | IntronicSNV | - | 13/17 | 1 |
21-27314945-C-T | c.1687+11959G>A | - | IntronicSNV | - | 13/17 | 1 |
21-27316874-G-A | c.1687+10030C>T | - | IntronicSNV | - | 13/17 | 1 |
21-27319269-A-T | c.1687+7635T>A | - | IntronicSNV | - | 13/17 | 1 |
21-27319934-C-G | c.1687+6970G>C | - | IntronicSNV | - | 13/17 | 1 |
21-27323704-A-C | c.1687+3200T>G | - | IntronicSNV | - | 13/17 | 1 |
21-27325288-G-A | c.1687+1616C>T | - | IntronicSNV | - | 13/17 | 1 |
21-27326859-G-A | c.1687+45C>T | - | IntronicSNV | - | 13/17 | 1 |
21-27326907-C-T | c.1684G>A | p.Val562Ile | Missense | 13/18 | - | 3 |
21-27326936-G-C | c.1655C>G | p.Pro552Arg | Missense | 13/18 | - | 3 |
21-27326936-G-T | c.1655C>A | p.Pro552His | Missense | 13/18 | - | 1 |
21-27326979-A-G | c.1612T>C | p.Tyr538His | Missense | 13/18 | - | 5 |
21-27326987-C-T | c.1604G>A | p.Arg535His | Missense | 13/18 | - | 1 |
21-27327946-A-C | c.1582T>G | p.Ser528Ala | Missense | 12/18 | - | 1 |
21-27327973-C-T | c.1555G>A | p.Asp519Asn | Missense | 12/18 | - | 1 |
21-27327982-G-A | c.1546C>T | p.Arg516Cys | Missense | 12/18 | - | 2 |
21-27327998-C-A | c.1530G>T | p.Lys510Asn | Missense | 12/18 | - | 1 |
21-27327998-C-G | c.1530G>C | p.Lys510Asn | Missense | 12/18 | - | 1 |
21-27328025-TTC-TGT | c.1501_1502delinsAC | p.Glu501Thr | Missense | 12/18 | - | 1 |
21-27328030-C-T | c.1498G>A | p.Ala500Thr | Missense | 12/18 | - | 3 |
21-27328033-G-A | c.1495C>T | p.Arg499Cys | Missense | 12/18 | - | 1 |
21-27328042-T-G | c.1486A>C | p.Lys496Gln | Missense | 12/18 | - | 5 |
21-27328062-TG-GC | c.1465_1466delinsGC | p.His489Ala | Missense | 12/18 | - | 1 |
21-27328175-T-C | c.1459-106A>G | - | IntronicSNV | - | 11/17 | 2 |
21-27330738-G-A | c.1459-2669C>T | - | IntronicSNV | - | 11/17 | 1 |
21-27330738-G-C | c.1459-2669C>G | - | IntronicSNV | - | 11/17 | 1 |
21-27330859-A-G | c.1459-2790T>C | - | IntronicSNV | - | 11/17 | 1 |
21-27335022-A-G | c.1459-6953T>C | - | IntronicSNV | - | 11/17 | 2 |
21-27336168-C-T | c.1459-8099G>A | - | IntronicSNV | - | 11/17 | 1 |
21-27338298-T-A | c.1458+9085A>T | - | IntronicSNV | - | 11/17 | 1 |
21-27338298-T-C | c.1458+9085A>G | - | IntronicSNV | - | 11/17 | 1 |
21-27343288-T-C | c.1458+4095A>G | - | IntronicSNV | - | 11/17 | 2 |
21-27344189-A-C | c.1458+3194T>G | - | IntronicSNV | - | 11/17 | 2 |
21-27347391-G-A | c.1450C>T | p.Pro484Ser | Missense | 11/18 | - | 1 |
21-27347406-C-A | c.1435G>T | p.Ala479Ser | Missense | 11/18 | - | 2 |
21-27347423-AG-GA | c.1417_1418delinsTC | p.Leu473Ser | Missense | 11/18 | - | 1 |
21-27347438-C-T | c.1403G>A | p.Arg468His | Missense | 11/18 | - | 3 |
21-27347487-G-C | c.1354C>G | p.Gln452Glu | Missense | 11/18 | - | 1 |
21-27347519-G-A | c.1322C>T | p.Ser441Phe | Missense | 11/18 | - | 1 |
21-27347528-TT-GC | c.1312_1313delinsGC | p.Lys438Ala | Missense | 11/18 | - | 1 |
21-27348292-T-C | c.1274A>G | p.Lys425Arg | Missense | 10/18 | - | 1 |
21-27348304-TT-GC | c.1261_1262delinsGC | p.Lys421Ala | Missense | 10/18 | - | 1 |
21-27348313-C-G | c.1253G>C | p.Arg418Pro | Missense | 10/18 | - | 1 |
21-27348313-CG-GC | c.1252_1253delinsGC | p.Arg418Ala | Missense | 10/18 | - | 1 |
21-27348316-T-C | c.1250A>G | p.Glu417Gly | Missense | 10/18 | - | 1 |
21-27348328-CA-GC | c.1237_1238delinsGC | p.Trp413Ala | Missense | 10/18 | - | 1 |
21-27348372-A-G | c.1225-31T>C | - | IntronicSNV | - | 9/17 | 1 |
21-27354686-C-T | c.1195G>A | p.Glu399Lys | Missense | 9/18 | - | 1 |
21-27354688-A-C | c.1193T>G | p.Leu398Arg | Missense | 9/18 | - | 3 |
21-27354691-C-G | c.1190G>C | p.Arg397Thr | Missense | 9/18 | - | 1 |
21-27354727-T-G | c.1154A>C | p.Glu385Ala | Missense | 9/18 | - | 1 |
21-27354728-C-G | c.1153G>C | p.Glu385Gln | Missense | 9/18 | - | 1 |
21-27354730-T-G | c.1151A>C | p.Asp384Ala | Missense | 9/18 | - | 1 |
21-27354757-A-G | c.1124T>C | p.Val375Ala | Missense | 9/18 | - | 1 |
21-27354776-C-T | c.1105G>A | p.Ala369Thr | Missense | 9/18 | - | 1 |
21-27354785-T-C | c.1096A>G | p.Thr366Ala | Missense | 9/18 | - | 1 |
21-27354793-A-G | c.1091-3T>C | - | IntronicSNV | - | 8/17 | 1 |
21-27355017-T-C | c.1091-227A>G | - | IntronicSNV | - | 8/17 | 2 |
21-27359663-C-T | c.1091-4873G>A | - | IntronicSNV | - | 8/17 | 1 |
21-27361768-C-A | c.1091-6978G>T | - | IntronicSNV | - | 8/17 | 1 |
21-27362519-A-G | c.1090+7156T>C | - | IntronicSNV | - | 8/17 | 1 |
21-27362519-A-T | c.1090+7156T>A | - | IntronicSNV | - | 8/17 | 1 |
21-27369355-T-G | c.1090+320A>C | - | IntronicSNV | - | 8/17 | 1 |
21-27369675-G-A | c.1090C>T | p.Leu364Phe | Missense | 8/18 | - | 1 |
21-27369690-G-A | c.1075C>T | p.Arg359* | Nonsense | 8/18 | - | 1 |
21-27369705-G-T | c.1060C>A | p.Gln354Lys | Missense | 8/18 | - | 1 |
21-27369708-T-C | c.1057A>G | p.Thr353Ala | Missense | 8/18 | - | 1 |
21-27369729-A-C | c.1036T>G | p.Ser346Ala | Missense | 8/18 | - | 1 |
21-27370876-C-T | c.1034-1145G>A | - | IntronicSNV | - | 7/17 | 1 |
21-27371653-T-C | c.1033+677A>G | - | IntronicSNV | - | 7/17 | 1 |
21-27371667-C-T | c.1033+663G>A | - | IntronicSNV | - | 7/17 | 1 |
21-27372331-G-C | c.1032C>G | p.Ala344Ala | Synonymous | 7/18 | - | 2 |
21-27372331-G-T | c.1032C>A | p.Ala344Ala | Synonymous | 7/18 | - | 2 |
21-27372332-G-A | c.1031C>T | p.Ala344Val | Missense | 7/18 | - | 2 |
21-27372337-GCC-AAG | c.1024_1026delinsCTT | p.Gly342Leu | Missense | 7/18 | - | 1 |
21-27372345-C-T | c.1018G>A | p.Val340Met | Missense | 7/18 | - | 4 |
21-27372368-T-C | c.995A>G | p.Asp332Gly | Missense | 7/18 | - | 1 |
21-27372380-CG-GC | c.982_983delinsGC | p.Arg328Ala | Missense | 7/18 | - | 1 |
21-27372381-G-A | c.982C>T | p.Arg328Trp | Missense | 7/18 | - | 2 |
21-27372394-T-C | c.969A>G | p.Gly323Gly | Synonymous | 7/18 | - | 1 |
21-27372395-C-G | c.968G>C | p.Gly323Ala | Missense | 7/18 | - | 2 |
21-27372398-C-G | c.965G>C | p.Gly322Ala | Missense | 7/18 | - | 1 |
21-27372399-C-A | c.964G>T | p.Gly322Cys | Missense | 7/18 | - | 1 |
21-27372401-T-A | c.962A>T | p.Tyr321Phe | Missense | 7/18 | - | 1 |
21-27372413-G-A | c.950C>T | p.Ala317Val | Missense | 7/18 | - | 1 |
21-27372429-T-C | c.934A>G | p.Thr312Ala | Missense | 7/18 | - | 1 |
21-27372439-G-C | c.924C>G | p.Tyr308* | Nonsense | 7/18 | - | 1 |
21-27372439-G-T | c.924C>A | p.Tyr308* | Nonsense | 7/18 | - | 1 |
21-27372450-A-C | c.913T>G | p.Ser305Ala | Missense | 7/18 | - | 1 |
21-27372455-A-G | c.908T>C | p.Met303Thr | Missense | 7/18 | - | 1 |
21-27372459-C-T | c.904G>A | p.Ala302Thr | Missense | 7/18 | - | 1 |
21-27372460-TCG-AGC | c.901_903delinsGCT | p.Arg301Ala | Missense | 7/18 | - | 1 |
21-27372461-C-A | c.902G>T | p.Arg301Leu | Missense | 7/18 | - | 1 |
21-27372467-G-A | c.896C>T | p.Pro299Leu | Missense | 7/18 | - | 2 |
21-27372470-CC-AC | c.893delinsT | p.Gly298Val | Missense | 7/18 | - | 1 |
21-27372473-G-A | c.890C>T | p.Thr297Met | Missense | 7/18 | - | 2 |
21-27372477-C-T | c.886G>A | p.Glu296Lys | Missense | 7/18 | - | 2 |
21-27372483-G-A | c.880C>T | p.Gln294* | Nonsense | 7/18 | - | 1 |
21-27372497-T-A | c.866A>T | p.Glu289Val | Missense | 7/18 | - | 1 |
21-27374604-C-A | c.866-2107G>T | - | IntronicSNV | - | 6/17 | 1 |
21-27387570-C-T | c.865+6586G>A | - | IntronicSNV | - | 6/17 | 1 |
21-27391459-T-C | c.865+2697A>G | - | IntronicSNV | - | 6/17 | 1 |
21-27394159-G-A | c.862C>T | p.Arg288* | Nonsense | 6/18 | - | 1 |
21-27394161-A-C | c.860T>G | p.Val287Gly | Missense | 6/18 | - | 3 |
21-27394173-A-G | c.848T>C | p.Val283Ala | Missense | 6/18 | - | 1 |
21-27394177-A-C | c.844T>G | p.Ser282Ala | Missense | 6/18 | - | 1 |
21-27394179-T-G | c.842A>C | p.Glu281Ala | Missense | 6/18 | - | 1 |
21-27394181-CTGT-C | c.838_840del | p.Thr280del | InFrameDeletion | 6/18 | - | 1 |
21-27394182-G-C | c.839C>G | p.Thr280Arg | Missense | 6/18 | - | 1 |
21-27394183-T-C | c.838A>G | p.Thr280Ala | Missense | 6/18 | - | 1 |
21-27394184-GG-AG | c.837delinsT | p.Thr279Thr | Missense | 6/18 | - | 1 |
21-27394185-G-A | c.836C>T | p.Thr279Ile | Missense | 6/18 | - | 1 |
21-27394195-T-A | c.826A>T | p.Thr276Ser | Missense | 6/18 | - | 3 |
21-27394206-AT-GC | c.814_815delinsGC | p.Ile272Ala | Missense | 6/18 | - | 1 |
21-27394222-C-G | c.799G>C | p.Glu267Gln | Missense | 6/18 | - | 2 |
21-27394223-T-A | c.798A>T | p.Thr266Thr | Synonymous | 6/18 | - | 1 |
21-27394223-T-C | c.798A>G | p.Thr266Thr | Synonymous | 6/18 | - | 1 |
21-27394223-T-G | c.798A>C | p.Thr266Thr | Synonymous | 6/18 | - | 1 |
21-27394251-TC-AC | c.770delinsT | p.Glu257Val | Missense | 6/18 | - | 1 |
21-27394254-TTC-T | c.766_767del | p.Glu256Argfs*3 | Frameshift | 6/18 | - | 1 |
21-27394278-T-C | c.743A>G | p.Asp248Gly | Missense | 6/18 | - | 1 |
21-27394279-C-T | c.742G>A | p.Asp248Asn | Missense | 6/18 | - | 1 |
21-27394284-T-G | c.737A>C | p.Glu246Ala | Missense | 6/18 | - | 1 |
21-27394285-C-T | c.736G>A | p.Glu246Lys | Missense | 6/18 | - | 3 |
21-27394287-T-C | c.734A>G | p.Asp245Gly | Missense | 6/18 | - | 1 |
21-27394290-T-C | c.731A>G | p.Asp244Gly | Missense | 6/18 | - | 1 |
21-27394294-C-T | c.727G>A | p.Asp243Asn | Missense | 6/18 | - | 2 |
21-27394295-G-A | c.726C>T | p.Ala242Ala | Synonymous | 6/18 | - | 1 |
21-27394295-G-C | c.726C>G | p.Ala242Ala | Synonymous | 6/18 | - | 1 |
21-27394295-G-T | c.726C>A | p.Ala242Ala | Synonymous | 6/18 | - | 1 |
21-27394303-C-T | c.718G>A | p.Glu240Lys | Missense | 6/18 | - | 1 |
21-27394317-G-A | c.704C>T | p.Ala235Val | Missense | 6/18 | - | 2 |
21-27394347-A-G | c.674T>C | p.Val225Ala | Missense | 6/18 | - | 1 |
21-27397607-A-G | c.663-3249T>C | - | IntronicSNV | - | 5/17 | 1 |
21-27402812-T-C | c.663-8454A>G | - | IntronicSNV | - | 5/17 | 1 |
21-27402989-T-A | c.663-8631A>T | - | IntronicSNV | - | 5/17 | 1 |
21-27408020-G-A | c.663-13662C>T | - | IntronicSNV | - | 5/17 | 1 |
21-27412605-C-A | c.662+10711G>T | - | IntronicSNV | - | 5/17 | 1 |
21-27412605-C-T | c.662+10711G>A | - | IntronicSNV | - | 5/17 | 1 |
21-27416117-T-TT | c.662+7201dup | - | IntronicInsertion | - | 5/17 | 1 |
21-27423319-C-T | c.659G>A | p.Gly220Glu | Missense | 5/18 | - | 1 |
21-27423333-TGT-GAC | c.643_645delinsGTC | p.Thr215Val | Missense | 5/18 | - | 1 |
21-27423333-TGT-TAT | c.644delinsT | p.Thr215Ile | Missense | 5/18 | - | 2 |
21-27423362-A-C | c.616T>G | p.Ser206Ala | Missense | 5/18 | - | 1 |
21-27423362-GA-G | c.616del | p.Ser206Argfs*20 | Frameshift | 5/18 | - | 1 |
21-27423370-T-C | c.608A>G | p.Glu203Gly | Missense | 5/18 | - | 1 |
21-27423371-C-T | c.607G>A | p.Glu203Lys | Missense | 5/18 | - | 1 |
21-27423376-G-A | c.602C>T | p.Ala201Val | Missense | 5/18 | - | 4 |
21-27423378-A-G | c.600T>C | p.Asp200Asp | Synonymous | 5/18 | - | 1 |
21-27423390-CA-AC | c.587_588delinsGT | p.Val196Gly | Missense | 5/18 | - | 1 |
21-27423397-T-G | c.581A>C | p.Asp194Ala | Missense | 5/18 | - | 1 |
21-27423400-CT-GC | c.577_578delinsGC | p.Ser193Ala | Missense | 5/18 | - | 1 |
21-27423404-C-T | c.574G>A | p.Glu192Lys | Missense | 5/18 | - | 1 |
21-27423409-G-A | c.569C>T | p.Ala190Val | Missense | 5/18 | - | 1 |
21-27423421-CA-GC | c.556_557delinsGC | p.Cys186Ala | Missense | 5/18 | - | 3 |
21-27423430-T-G | c.548A>C | p.Glu183Ala | Missense | 5/18 | - | 2 |
21-27423432-TAC-ATG | c.544_546delinsCAT | p.Val182His | Missense | 5/18 | - | 1 |
21-27423432-T-C | c.546A>G | p.Val182Val | Synonymous | 5/18 | - | 1 |
21-27423439-CG-GC | c.538_539delinsGC | p.Arg180Ala | Missense | 5/18 | - | 1 |
21-27423444-C-T | c.534G>A | p.Lys178Lys | Synonymous | 5/18 | - | 1 |
21-27423445-TT-GC | c.532_533delinsGC | p.Lys178Ala | Missense | 5/18 | - | 1 |
21-27423449-C-T | c.529G>A | p.Asp177Asn | Missense | 5/18 | - | 3 |
21-27423452-T-C | c.526A>G | p.Ile176Val | Missense | 5/18 | - | 1 |
21-27423480-A-G | c.498T>C | p.His166His | Synonymous | 5/18 | - | 1 |
21-27423491-T-C | c.487A>G | p.Thr163Ala | Missense | 5/18 | - | 1 |
21-27423495-C-A | c.483G>T | p.Lys161Asn | Missense | 5/18 | - | 1 |
21-27423495-C-G | c.483G>C | p.Lys161Asn | Missense | 5/18 | - | 1 |
21-27423499-T-G | c.479A>C | p.Glu160Ala | Missense | 5/18 | - | 1 |
21-27423506-A-G | c.472T>C | p.Cys158Arg | Missense | 5/18 | - | 1 |
21-27423547-A-T | c.469-38T>A | - | IntronicSNV | - | 4/17 | 1 |
21-27424038-T-C | c.469-529A>G | - | IntronicSNV | - | 4/17 | 1 |
21-27425565-GT-TG | c.454_455delinsCA | p.Thr152His | Missense | 4/18 | - | 1 |
21-27425566-T-C | c.454A>G | p.Thr152Ala | Missense | 4/18 | - | 1 |
21-27425568-TG-GC | c.451_452delinsGC | p.His151Ala | Missense | 4/18 | - | 1 |
21-27425569-G-T | c.451C>A | p.His151Asn | Missense | 4/18 | - | 1 |
21-27425570-CC-AT | c.449_450delinsAT | p.Trp150Tyr | Missense | 4/18 | - | 1 |
21-27425570-CC-TT | c.449_450delinsAA | p.Trp150* | Missense | 4/18 | - | 1 |
21-27425571-CA-AA | c.449delinsT | p.Trp150Leu | Missense | 4/18 | - | 1 |
21-27425571-CA-GC | c.448_449delinsGC | p.Trp150Ala | Missense | 4/18 | - | 1 |
21-27425572-A-G | c.448T>C | p.Trp150Arg | Missense | 4/18 | - | 1 |
21-27425572-A-T | c.448T>A | p.Trp150Arg | Missense | 4/18 | - | 1 |
21-27425574-TG-GC | c.445_446delinsGC | p.His149Ala | Missense | 4/18 | - | 3 |
21-27425575-G-T | c.445C>A | p.His149Asn | Missense | 4/18 | - | 1 |
21-27425577-AG-GC | c.442_443delinsGC | p.Leu148Ala | Missense | 4/18 | - | 1 |
21-27425580-TG-GC | c.439_440delinsGC | p.His147Ala | Missense | 4/18 | - | 1 |
21-27425581-G-T | c.439C>A | p.His147Asn | Missense | 4/18 | - | 1 |
21-27425583-GT-TG | c.436_437delinsCA | p.Thr146His | Missense | 4/18 | - | 1 |
21-27425587-C-T | c.433G>A | p.Glu145Lys | Missense | 4/18 | - | 1 |
21-27425596-C-T | c.424G>A | p.Asp142Asn | Missense | 4/18 | - | 1 |
21-27425597-C-A | c.423G>T | p.Met141Ile | Missense | 4/18 | - | 1 |
21-27425597-C-G | c.423G>C | p.Met141Ile | Missense | 4/18 | - | 1 |
21-27425597-C-T | c.423G>A | p.Met141Ile | Missense | 4/18 | - | 1 |
21-27425598-AT-GC | c.421_422delinsGC | p.Met141Ala | Missense | 4/18 | - | 1 |
21-27425599-T-A | c.421A>T | p.Met141Leu | Missense | 4/18 | - | 2 |
21-27425599-T-G | c.421A>C | p.Met141Leu | Missense | 4/18 | - | 2 |
21-27425601-CT-GC | c.418_419delinsGC | p.Arg140Ala | Missense | 4/18 | - | 1 |
21-27425604-T-G | c.416A>C | p.Glu139Ala | Missense | 4/18 | - | 1 |
21-27425605-C-T | c.415G>A | p.Glu139Lys | Missense | 4/18 | - | 1 |
21-27425607-T-C | c.413A>G | p.Gln138Arg | Missense | 4/18 | - | 1 |
21-27425607-TG-GC | c.412_413delinsGC | p.Gln138Ala | Missense | 4/18 | - | 1 |
21-27425610-T-C | c.410A>G | p.His137Arg | Missense | 4/18 | - | 1 |
21-27425610-TG-GC | c.409_410delinsGC | p.His137Ala | Missense | 4/18 | - | 2 |
21-27425612-T-A | c.408A>T | p.Leu136Phe | Missense | 4/18 | - | 1 |
21-27425612-T-G | c.408A>C | p.Leu136Phe | Missense | 4/18 | - | 1 |
21-27425625-TT-GC | c.394_395delinsGC | p.Lys132Ala | Missense | 4/18 | - | 1 |
21-27425630-AG-AA | c.389delinsT | p.Pro130Leu | Missense | 4/18 | - | 1 |
21-27425631-G-A | c.389C>T | p.Pro130Leu | Missense | 4/18 | - | 2 |
21-27425633-AAC-ATG | c.385_386delinsCA | p.Val129His | Missense | 4/18 | - | 1 |
21-27425633-A-C | c.387T>G | p.Val129Val | Synonymous | 4/18 | - | 1 |
21-27425633-A-G | c.387T>C | p.Val129Val | Synonymous | 4/18 | - | 1 |
21-27425633-A-T | c.387T>A | p.Val129Val | Synonymous | 4/18 | - | 1 |
21-27425644-C-T | c.376G>A | p.Ala126Thr | Missense | 4/18 | - | 1 |
21-27425658-T-G | c.362A>C | p.Glu121Ala | Missense | 4/18 | - | 1 |
21-27425660-A-C | c.360T>G | p.Gly120Gly | Synonymous | 4/18 | - | 1 |
21-27425660-A-G | c.360T>C | p.Gly120Gly | Synonymous | 4/18 | - | 1 |
21-27425660-A-T | c.360T>A | p.Gly120Gly | Synonymous | 4/18 | - | 1 |
21-27427248-G-T | c.356-1584C>A | - | IntronicSNV | - | 3/17 | 2 |
21-27428256-C-A | c.356-2592G>T | - | IntronicSNV | - | 3/17 | 2 |
21-27428256-C-T | c.356-2592G>A | - | IntronicSNV | - | 3/17 | 2 |
21-27429317-C-T | c.356-3653G>A | - | IntronicSNV | - | 3/17 | 1 |
21-27430925-T-C | c.356-5261A>G | - | IntronicSNV | - | 3/17 | 2 |
21-27430925-T-G | c.356-5261A>C | - | IntronicSNV | - | 3/17 | 2 |
21-27435525-C-A | c.356-9861G>T | - | IntronicSNV | - | 3/17 | 3 |
21-27435525-C-T | c.356-9861G>A | - | IntronicSNV | - | 3/17 | 3 |
21-27438501-C-G | c.356-12837G>C | - | IntronicSNV | - | 3/17 | 1 |
21-27438501-C-T | c.356-12837G>A | - | IntronicSNV | - | 3/17 | 1 |
21-27442596-A-G | c.356-16932T>C | - | IntronicSNV | - | 3/17 | 2 |
21-27443650-G-A | c.356-17986C>T | - | IntronicSNV | - | 3/17 | 2 |
21-27444110-T-C | c.355+18149A>G | - | IntronicSNV | - | 3/17 | 1 |
21-27446432-C-T | c.355+15827G>A | - | IntronicSNV | - | 3/17 | 1 |
21-27454995-T-C | c.355+7264A>G | - | IntronicSNV | - | 3/17 | 2 |
21-27458409-A-G | c.355+3850T>C | - | IntronicSNV | - | 3/17 | 2 |
21-27459674-C-G | c.355+2585G>C | - | IntronicSNV | - | 3/17 | 2 |
21-27459674-C-T | c.355+2585G>A | - | IntronicSNV | - | 3/17 | 2 |
21-27462264-CA-GC | c.349_350delinsGC | p.Cys117Ala | Missense | 3/18 | - | 2 |
21-27462265-A-C | c.349T>G | p.Cys117Gly | Missense | 3/18 | - | 1 |
21-27462268-G-A | c.346C>T | p.Arg116Cys | Missense | 3/18 | - | 1 |
21-27462270-T-C | c.344A>G | p.Tyr115Cys | Missense | 3/18 | - | 3 |
21-27462271-A-G | c.343T>C | p.Tyr115His | Missense | 3/18 | - | 1 |
21-27462276-A-G | c.338T>C | p.Ile113Thr | Missense | 3/18 | - | 1 |
21-27462286-G-T | c.328C>A | p.His110Asn | Missense | 3/18 | - | 1 |
21-27462300-CA-GC | c.313_314delinsGC | p.Cys105Ala | Missense | 3/18 | - | 1 |
21-27462300-C-G | c.314G>C | p.Cys105Ser | Missense | 3/18 | - | 1 |
21-27462301-A-T | c.313T>A | p.Cys105Ser | Missense | 3/18 | - | 1 |
21-27462307-T-G | c.307A>C | p.Lys103Gln | Missense | 3/18 | - | 1 |
21-27462309-CG-GC | c.304_305delinsGC | p.Arg102Ala | Missense | 3/18 | - | 1 |
21-27462314-CCG-ATC | c.298_300delinsGAT | p.Arg100Asp | Missense | 3/18 | - | 1 |
21-27462314-CCG-TAT | c.298_300delinsATA | p.Arg100Ile | Missense | 3/18 | - | 1 |
21-27462315-C-A | c.299G>T | p.Arg100Leu | Missense | 3/18 | - | 1 |
21-27462315-CG-GA | c.298_299delinsTC | p.Arg100Ser | Missense | 3/18 | - | 3 |
21-27462315-CG-GT | c.298_299delinsAC | p.Arg100Thr | Missense | 3/18 | - | 1 |
21-27462316-G-A | c.298C>T | p.Arg100Trp | Missense | 3/18 | - | 2 |
21-27462321-CA-GC | c.292_293delinsGC | p.Cys98Ala | Missense | 3/18 | - | 1 |
21-27462324-C-T | c.290G>A | p.Trp97* | Nonsense | 3/18 | - | 1 |
21-27462335-G-A | c.279C>T | p.Thr93Thr | Synonymous | 3/18 | - | 1 |
21-27462345-T-C | c.269A>G | p.Gln90Arg | Missense | 3/18 | - | 1 |
21-27462372-T-A | c.242A>T | p.Gln81Leu | Missense | 3/18 | - | 1 |
21-27462388-C-T | c.226G>A | p.Val76Ile | Missense | 3/18 | - | 1 |
21-27462422-T-C | c.226-34A>G | - | IntronicSNV | - | 2/17 | 1 |
21-27462727-A-C | c.226-339T>G | - | IntronicSNV | - | 2/17 | 1 |
21-27464270-A-G | c.226-1882T>C | - | IntronicSNV | - | 2/17 | 1 |
21-27465355-T-C | c.226-2967A>G | - | IntronicSNV | - | 2/17 | 2 |
21-27465355-T-G | c.226-2967A>C | - | IntronicSNV | - | 2/17 | 2 |
21-27465597-C-T | c.226-3209G>A | - | IntronicSNV | - | 2/17 | 2 |
21-27468740-C-T | c.226-6352G>A | - | IntronicSNV | - | 2/17 | 1 |
21-27471711-C-T | c.226-9323G>A | - | IntronicSNV | - | 2/17 | 1 |
21-27473875-C-A | c.225+10421G>T | - | IntronicSNV | - | 2/17 | 1 |
21-27473875-C-T | c.225+10421G>A | - | IntronicSNV | - | 2/17 | 1 |
21-27475811-A-C | c.225+8485T>G | - | IntronicSNV | - | 2/17 | 1 |
21-27476104-G-T | c.225+8192C>A | - | IntronicSNV | - | 2/17 | 3 |
21-27481317-T-G | c.225+2979A>C | - | IntronicSNV | - | 2/17 | 1 |
21-27484297-TC-AC | c.224delinsT | p.Glu75Val | Missense | 2/18 | - | 1 |
21-27484309-T-A | c.212A>T | p.Gln71Leu | Missense | 2/18 | - | 1 |
21-27484319-C-A | c.202G>T | p.Gly68Cys | Missense | 2/18 | - | 1 |
21-27484327-GT-GG | c.193delinsC | p.Thr65Pro | Missense | 2/18 | - | 1 |
21-27484328-T-C | c.193A>G | p.Thr65Ala | Missense | 2/18 | - | 1 |
21-27484330-T-A | c.191A>T | p.Asp64Val | Missense | 2/18 | - | 1 |
21-27484333-A-G | c.188T>C | p.Ile63Thr | Missense | 2/18 | - | 1 |
21-27484335-G-T | c.186C>A | p.Cys62* | Nonsense | 2/18 | - | 1 |
21-27484336-C-G | c.185G>C | p.Cys62Ser | Missense | 2/18 | - | 1 |
21-27484337-A-T | c.184T>A | p.Cys62Ser | Missense | 2/18 | - | 1 |
21-27484339-G-A | c.182C>T | p.Thr61Ile | Missense | 2/18 | - | 1 |
21-27484349-C-G | c.172G>C | p.Gly58Arg | Missense | 2/18 | - | 1 |
21-27484349-C-T | c.172G>A | p.Gly58Arg | Missense | 2/18 | - | 1 |
21-27484352-A-G | c.169T>C | p.Ser57Pro | Missense | 2/18 | - | 1 |
21-27484362-ATC-TAA | c.157_159delinsTTA | p.Asp53Leu | Nonsense | 2/18 | - | 1 |
21-27484376-T-C | c.145A>G | p.Asn49Asp | Missense | 2/18 | - | 1 |
21-27484385-T-C | c.136A>G | p.Asn46Asp | Missense | 2/18 | - | 1 |
21-27484392-C-A | c.129G>T | p.Met43Ile | Missense | 2/18 | - | 1 |
21-27484392-C-G | c.129G>C | p.Met43Ile | Missense | 2/18 | - | 1 |
21-27484392-C-T | c.129G>A | p.Met43Ile | Missense | 2/18 | - | 1 |
21-27484395-GTT-CAA | c.124_126delinsTTG | p.Asn42Leu | Missense | 2/18 | - | 1 |
21-27484399-A-G | c.122T>C | p.Leu41Pro | Missense | 2/18 | - | 1 |
21-27484401-TCT-TGG | c.118_119delinsCC | p.Arg40Pro | Missense | 2/18 | - | 1 |
21-27484405-C-G | c.116G>C | p.Gly39Ala | Missense | 2/18 | - | 2 |
21-27484409-A-C | c.112T>G | p.Cys38Gly | Missense | 2/18 | - | 1 |
21-27484413-C-A | c.108G>T | p.Met36Ile | Missense | 2/18 | - | 3 |
21-27484413-C-G | c.108G>C | p.Met36Ile | Missense | 2/18 | - | 3 |
21-27484413-C-T | c.108G>A | p.Met36Ile | Missense | 2/18 | - | 3 |
21-27484418-C-T | c.103G>A | p.Ala35Thr | Missense | 2/18 | - | 2 |
21-27484421-T-C | c.100A>G | p.Ile34Val | Missense | 2/18 | - | 1 |
21-27484423-T-C | c.98A>G | p.Gln33Arg | Missense | 2/18 | - | 1 |
21-27484432-G-C | c.89C>G | p.Ala30Gly | Missense | 2/18 | - | 1 |
21-27484432-GC-TG | c.88_89delinsCA | p.Ala30His | Missense | 2/18 | - | 1 |
21-27484433-C-G | c.88G>C | p.Ala30Pro | Missense | 2/18 | - | 85 |
21-27484433-C-T | c.88G>A | p.Ala30Thr | Missense | 2/18 | - | 1 |
21-27484438-A-G | c.83T>C | p.Leu28Pro | Missense | 2/18 | - | 2 |
21-27484438-AG-GG | c.83delinsC | p.Leu28Pro | Missense | 2/18 | - | 1 |
21-27484439-G-C | c.82C>G | p.Leu28Val | Missense | 2/18 | - | 2 |
21-27484444-GC-AA | c.76_77delinsTT | p.Ala26Phe | Missense | 2/18 | - | 1 |
21-27484444-GC-TG | c.76_77delinsCA | p.Ala26His | Missense | 2/18 | - | 1 |
21-27484452-ATC-AAG | c.67_68delinsCT | p.Asp23Leu | Missense | 2/18 | - | 2 |
21-27484453-T-C | c.68A>G | p.Asp23Gly | Missense | 2/18 | - | 3 |
21-27484453-TC-AG | c.67_68delinsCT | p.Asp23Leu | Missense | 2/18 | - | 1 |
21-27484454-C-A | c.67G>T | p.Asp23Tyr | Missense | 2/18 | - | 1 |
21-27484454-C-T | c.67G>A | p.Asp23Asn | Missense | 2/18 | - | 68 |
21-27484456-G-T | c.65C>A | p.Thr22Asn | Missense | 2/18 | - | 5 |
21-27484459-GG-AA | c.61_62delinsTT | p.Pro21Phe | Missense | 2/18 | - | 1 |
21-27484460-G-A | c.61C>T | p.Pro21Ser | Missense | 2/18 | - | 1 |
21-27484460-G-C | c.61C>G | p.Pro21Ala | Missense | 2/18 | - | 1 |
21-27484968-T-C | c.58-505A>G | - | IntronicSNV | - | 1/17 | 1 |
21-27488767-C-A | c.58-4304G>T | - | IntronicSNV | - | 1/17 | 1 |
21-27488767-C-T | c.58-4304G>A | - | IntronicSNV | - | 1/17 | 1 |
21-27494202-C-A | c.58-9739G>T | - | IntronicSNV | - | 1/17 | 2 |
21-27494202-C-G | c.58-9739G>C | - | IntronicSNV | - | 1/17 | 2 |
21-27494202-C-T | c.58-9739G>A | - | IntronicSNV | - | 1/17 | 2 |
21-27496667-T-C | c.58-12204A>G | - | IntronicSNV | - | 1/17 | 1 |
21-27497497-G-A | c.58-13034C>T | - | IntronicSNV | - | 1/17 | 2 |
21-27500333-C-T | c.58-15870G>A | - | IntronicSNV | - | 1/17 | 1 |
21-27500660-T-G | c.58-16197A>C | - | IntronicSNV | - | 1/17 | 3 |
21-27501142-T-A | c.58-16679A>T | - | IntronicSNV | - | 1/17 | 1 |
21-27501142-T-C | c.58-16679A>G | - | IntronicSNV | - | 1/17 | 1 |
21-27502442-C-T | c.58-17979G>A | - | IntronicSNV | - | 1/17 | 1 |
21-27502468-T-A | c.58-18005A>T | - | IntronicSNV | - | 1/17 | 1 |
21-27502468-T-C | c.58-18005A>G | - | IntronicSNV | - | 1/17 | 1 |
21-27502723-C-A | c.58-18260G>T | - | IntronicSNV | - | 1/17 | 1 |
21-27503422-C-T | c.58-18959G>A | - | IntronicSNV | - | 1/17 | 3 |
21-27506317-G-C | c.58-21854C>G | - | IntronicSNV | - | 1/17 | 1 |
21-27506317-G-T | c.58-21854C>A | - | IntronicSNV | - | 1/17 | 1 |
21-27508060-T-C | c.58-23597A>G | - | IntronicSNV | - | 1/17 | 1 |
21-27512583-C-G | c.58-28120G>C | - | IntronicSNV | - | 1/17 | 1 |
21-27512811-A-C | c.58-28348T>G | - | IntronicSNV | - | 1/17 | 1 |
21-27512811-A-T | c.58-28348T>A | - | IntronicSNV | - | 1/17 | 1 |
21-27512956-A-T | c.58-28493T>A | - | IntronicSNV | - | 1/17 | 1 |
21-27513837-A-G | c.57+29045T>C | - | IntronicSNV | - | 1/17 | 2 |
21-27514373-G-A | c.57+28509C>T | - | IntronicSNV | - | 1/17 | 2 |
21-27514373-G-C | c.57+28509C>G | - | IntronicSNV | - | 1/17 | 2 |
21-27514740-T-C | c.57+28142A>G | - | IntronicSNV | - | 1/17 | 4 |
21-27515239-C-G | c.57+27643G>C | - | IntronicSNV | - | 1/17 | 1 |
21-27515239-C-T | c.57+27643G>A | - | IntronicSNV | - | 1/17 | 1 |
21-27517077-A-C | c.57+25805T>G | - | IntronicSNV | - | 1/17 | 1 |
21-27517077-A-T | c.57+25805T>A | - | IntronicSNV | - | 1/17 | 1 |
21-27517203-T-C | c.57+25679A>G | - | IntronicSNV | - | 1/17 | 1 |
21-27520714-T-C | c.57+22168A>G | - | IntronicSNV | - | 1/17 | 1 |
21-27520773-G-C | c.57+22109C>G | - | IntronicSNV | - | 1/17 | 1 |
21-27521417-A-G | c.57+21465T>C | - | IntronicSNV | - | 1/17 | 1 |
21-27522908-T-C | c.57+19974A>G | - | IntronicSNV | - | 1/17 | 1 |
21-27530610-C-A | c.57+12272G>T | - | IntronicSNV | - | 1/17 | 1 |
21-27530610-C-G | c.57+12272G>C | - | IntronicSNV | - | 1/17 | 1 |
21-27531267-T-C | c.57+11615A>G | - | IntronicSNV | - | 1/17 | 1 |
21-27532072-A-G | c.57+10810T>C | - | IntronicSNV | - | 1/17 | 1 |
21-27533022-C-G | c.57+9860G>C | - | IntronicSNV | - | 1/17 | 1 |
21-27533329-G-A | c.57+9553C>T | - | IntronicSNV | - | 1/17 | 1 |
21-27534816-G-A | c.57+8066C>T | - | IntronicSNV | - | 1/17 | 2 |
21-27535027-C-T | c.57+7855G>A | - | IntronicSNV | - | 1/17 | 2 |
21-27537584-A-G | c.57+5298T>C | - | IntronicSNV | - | 1/17 | 1 |
21-27542882-CTC-TGT | c.55_57delinsACA | p.Glu19Thr | Missense | 1/18 | - | 1 |
21-27542886-AG-GC | c.52_53delinsGC | p.Leu18Ala | Missense | 1/18 | - | 2 |
21-27542888-C-A | c.51G>T | p.Ala17Ala | Synonymous | 1/18 | - | 1 |
21-27542888-C-G | c.51G>C | p.Ala17Ala | Synonymous | 1/18 | - | 1 |
21-27542888-C-T | c.51G>A | p.Ala17Ala | Synonymous | 1/18 | - | 1 |
21-27542892-CG-GC | c.46_47delinsGC | p.Arg16Ala | Missense | 1/18 | - | 1 |
21-27542891-C-A | c.48G>T | p.Arg16Arg | Synonymous | 1/18 | - | 1 |
21-27542891-C-G | c.48G>C | p.Arg16Arg | Synonymous | 1/18 | - | 1 |
21-27542891-C-T | c.48G>A | p.Arg16Arg | Synonymous | 1/18 | - | 1 |
21-27542893-G-T | c.46C>A | p.Arg16Arg | Synonymous | 1/18 | - | 1 |
21-27542895-G-C | c.44C>G | p.Ala15Gly | Missense | 1/18 | - | 1 |
21-27542896-C-A | c.43G>T | p.Ala15Ser | Missense | 1/18 | - | 1 |
21-27542906-G-A | c.33C>T | p.Ala11Ala | Synonymous | 1/18 | - | 1 |
21-27542906-G-C | c.33C>G | p.Ala11Ala | Synonymous | 1/18 | - | 1 |
21-27542906-G-T | c.33C>A | p.Ala11Ala | Synonymous | 1/18 | - | 1 |
21-27542909-CAG-ATC | c.28_30delinsGAT | p.Leu10Asp | Missense | 1/18 | - | 3 |
21-27542910-A-G | c.29T>C | p.Leu10Pro | Missense | 1/18 | - | 1 |
21-27542910-AG-GC | c.28_29delinsGC | p.Leu10Ala | Missense | 1/18 | - | 4 |
21-27542917-G-A | c.22C>T | p.Leu8Phe | Missense | 1/18 | - | 1 |
21-27543049-C-G | c.-111G>C | - | 5-UTRSNV | 1/18 | - | 3 |
21-27543049-C-T | c.-111G>A | - | 5-UTRSNV | 1/18 | - | 3 |
21-27543086-G-A | c.-148C>T | - | 5-UTRSNV | 1/18 | - | 1 |