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 |
21-27253980-T-G |
c.*1A>C |
- |
3-UTRSNV |
18/18 |
- |
1 |
21-27254000-AA-CC |
c.2293_2294delinsGG |
p.F765G |
Missense |
18/18 |
- |
1 |
21-27254000-AA-GC |
c.2293_2294delinsGC |
p.F765A |
Missense |
18/18 |
- |
1 |
21-27254003-AA-CC |
c.2290_2291delinsGG |
p.F764G |
Missense |
18/18 |
- |
1 |
21-27254003-AA-GC |
c.2290_2291delinsGC |
p.F764A |
Missense |
18/18 |
- |
1 |
21-27254006-T-C |
c.2288A>G |
p.K763R |
Missense |
18/18 |
- |
1 |
21-27254006-TT-CC |
c.2287_2288delinsGG |
p.K763G |
Missense |
18/18 |
- |
1 |
21-27254006-TT-GC |
c.2287_2288delinsGC |
p.K763A |
Missense |
18/18 |
- |
1 |
21-27254008-GTA-CTT |
c.2284_2286delinsAAG |
p.Y762K |
Missense |
18/18 |
- |
1 |
21-27254008-GT-CC |
c.2285_2286delinsGG |
p.Y762W |
Missense |
18/18 |
- |
1 |
21-27254009-T-A |
c.2285A>T |
p.Y762F |
Missense |
18/18 |
- |
1 |
21-27254013-T-C |
c.2281A>G |
p.T761A |
Missense |
18/18 |
- |
1 |
21-27254015-GG-CC |
c.2278_2279inv |
p.P760G |
Missense |
18/18 |
- |
1 |
21-27254016-G-C |
c.2278C>G |
p.P760A |
Missense |
18/18 |
- |
1 |
21-27254017-ATT-TTG |
c.2275_2277delinsCAA |
p.N759Q |
Missense |
18/18 |
- |
1 |
21-27254018-TT-GC |
c.2275_2276delinsGC |
p.N759A |
Missense |
18/18 |
- |
1 |
21-27254017-AT-A |
c.2276del |
p.N759Ifs*37 |
Frameshift |
18/18 |
- |
1 |
21-27254024-T-A |
c.2270A>T |
p.Y757F |
Missense |
18/18 |
- |
1 |
21-27254024-TA-GC |
c.2269_2270delinsGC |
p.Y757A |
Missense |
18/18 |
- |
2 |
21-27254036-CT-C |
c.2258del |
p.Q753Rfs*43 |
Frameshift |
18/18 |
- |
1 |
21-27254042-T-C |
c.2252A>G |
p.K751R |
Missense |
18/18 |
- |
1 |
21-27254045-G-C |
c.2249C>G |
p.S750C |
Missense |
18/18 |
- |
1 |
21-27254054-C-G |
c.2240G>C |
p.R747P |
Missense |
18/18 |
- |
1 |
21-27254054-C-T |
c.2240G>A |
p.R747H |
Missense |
18/18 |
- |
1 |
21-27254055-G-A |
c.2239C>T |
p.R747C |
Missense |
18/18 |
- |
1 |
21-27254061-C-G |
c.2233G>C |
p.E745Q |
Missense |
18/18 |
- |
1 |
21-27254073-C-A |
c.2221G>T |
p.A741S |
Missense |
18/18 |
- |
2 |
21-27254082-C-T |
c.2212G>A |
p.V738I |
Missense |
18/18 |
- |
1 |
21-27254092-A-C |
c.2212-10T>G |
- |
IntronicSNV |
- |
17/17 |
1 |
21-27254092-A-G |
c.2212-10T>C |
- |
IntronicSNV |
- |
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.H733P |
Missense |
17/18 |
- |
3 |
21-27264050-TG-CA |
c.2194_2195inv |
p.H732C |
Missense |
17/18 |
- |
2 |
21-27264056-G-C |
c.2189C>G |
p.S730C |
Missense |
17/18 |
- |
2 |
21-27264058-TGT-ACA |
c.2185_2187inv |
p.T729C |
Missense |
17/18 |
- |
2 |
21-27264068-T-C |
c.2177A>G |
p.K726R |
Missense |
17/18 |
- |
1 |
21-27264071-T-C |
c.2174A>G |
p.K725R |
Missense |
17/18 |
- |
1 |
21-27264073-C-A |
c.2172G>T |
p.K724N |
Missense |
17/18 |
- |
15 |
21-27264073-C-G |
c.2172G>C |
p.K724N |
Missense |
17/18 |
- |
20 |
21-27264074-T-A |
c.2171A>T |
p.K724M |
Missense |
17/18 |
- |
3 |
21-27264074-T-C |
c.2171A>G |
p.K724R |
Missense |
17/18 |
- |
1 |
21-27264076-CAG-ACA |
c.2167_2169delinsTGT |
p.L723C |
Missense |
17/18 |
- |
1 |
21-27264077-A-C |
c.2168T>G |
p.L723R |
Missense |
17/18 |
- |
2 |
21-27264077-A-G |
c.2168T>C |
p.L723P |
Missense |
17/18 |
- |
26 |
21-27264077-AG-GC |
c.2167_2168delinsGC |
p.L723A |
Missense |
17/18 |
- |
1 |
21-27264080-A-T |
c.2165T>A |
p.M722K |
Missense |
17/18 |
- |
7 |
21-27264083-AC-TT |
c.2161_2162delinsAA |
p.V721K |
Missense |
17/18 |
- |
2 |
21-27264086-AA-GG |
c.2158_2159delinsCC |
p.L720P |
Missense |
17/18 |
- |
3 |
21-27264086-A-G |
c.2159T>C |
p.L720S |
Missense |
17/18 |
- |
6 |
21-27264089-G-T |
c.2156C>A |
p.T719N |
Missense |
17/18 |
- |
6 |
21-27264090-T-G |
c.2155A>C |
p.T719P |
Missense |
17/18 |
- |
8 |
21-27264093-T-G |
c.2152A>C |
p.I718L |
Missense |
17/18 |
- |
5 |
21-27264094-G-A |
c.2151C>T |
p.V717= |
Synonymous |
17/18 |
- |
1 |
21-27264094-GAC-CCA |
c.2149_2151delinsTGG |
p.V717W |
Missense |
17/18 |
- |
1 |
21-27264094-GAC-CTT |
c.2149_2151delinsAAG |
p.V717K |
Missense |
17/18 |
- |
1 |
21-27264094-G-C |
c.2151C>G |
p.V717= |
Synonymous |
17/18 |
- |
1 |
21-27264094-G-T |
c.2151C>A |
p.V717= |
Synonymous |
17/18 |
- |
1 |
21-27264095-A-C |
c.2150T>G |
p.V717G |
Missense |
17/18 |
- |
35 |
21-27264095-AC-CG |
c.2149_2150delinsCG |
p.V717R |
Missense |
17/18 |
- |
1 |
21-27264095-A-G |
c.2150T>C |
p.V717A |
Missense |
17/18 |
- |
3 |
21-27264096-C-A |
c.2149G>T |
p.V717F |
Missense |
17/18 |
- |
788 |
21-27264096-C-G |
c.2149G>C |
p.V717L |
Missense |
17/18 |
- |
78 |
21-27264096-C-T |
c.2149G>A |
p.V717I |
Missense |
17/18 |
- |
867 |
21-27264097-G-C |
c.2148C>G |
p.I716M |
Missense |
17/18 |
- |
4 |
21-27264098-A-G |
c.2147T>C |
p.I716T |
Missense |
17/18 |
- |
15 |
21-27264099-T-A |
c.2146A>T |
p.I716F |
Missense |
17/18 |
- |
77 |
21-27264099-T-C |
c.2146A>G |
p.I716V |
Missense |
17/18 |
- |
427 |
21-27264100-CAC-AAA |
c.2143_2145delinsTTT |
p.V715F |
Missense |
17/18 |
- |
6 |
21-27264100-CAC-GAT |
c.2143_2145delinsATC |
p.V715I |
Missense |
17/18 |
- |
2 |
21-27264101-A-G |
c.2144T>C |
p.V715A |
Missense |
17/18 |
- |
16 |
21-27264102-C-T |
c.2143G>A |
p.V715M |
Missense |
17/18 |
- |
35 |
21-27264104-G-A |
c.2141C>T |
p.T714I |
Missense |
17/18 |
- |
52 |
21-27264104-GT-AG |
c.2140_2141delinsCT |
p.T714L |
Missense |
17/18 |
- |
1 |
21-27264105-T-C |
c.2140A>G |
p.T714A |
Missense |
17/18 |
- |
16 |
21-27264106-CGC-AAA |
c.2137_2139delinsTTT |
p.A713F |
Missense |
17/18 |
- |
1 |
21-27264106-CGC-ACA |
c.2137_2139delinsTGT |
p.A713C |
Missense |
17/18 |
- |
1 |
21-27264107-G-A |
c.2138C>T |
p.A713V |
Missense |
17/18 |
- |
5 |
21-27264108-C-T |
c.2137G>A |
p.A713T |
Missense |
17/18 |
- |
43 |
21-27264114-C-A |
c.2131G>T |
p.V711F |
Missense |
17/18 |
- |
1 |
21-27264116-A-C |
c.2129T>G |
p.V710G |
Missense |
17/18 |
- |
6 |
21-27264119-CC-AA |
c.2125_2126delinsTT |
p.G709F |
Missense |
17/18 |
- |
1 |
21-27264120-C-A |
c.2125G>T |
p.G709C |
Missense |
17/18 |
- |
1 |
21-27264120-C-T |
c.2125G>A |
p.G709S |
Missense |
17/18 |
- |
7 |
21-27264121-G-A |
c.2124C>T |
p.G708= |
Synonymous |
17/18 |
- |
5 |
21-27264121-G-C |
c.2124C>G |
p.G708= |
Synonymous |
17/18 |
- |
4 |
21-27264121-G-T |
c.2124C>A |
p.G708= |
Synonymous |
17/18 |
- |
4 |
21-27264122-CC-AG |
c.2122_2123delinsCT |
p.G708L |
Missense |
17/18 |
- |
1 |
21-27264123-C-A |
c.2122G>T |
p.G708C |
Missense |
17/18 |
- |
1 |
21-27264124-CAC-AAA |
c.2119_2121delinsTTT |
p.V707F |
Missense |
17/18 |
- |
1 |
21-27264124-CAC-GAT |
c.2119_2121delinsATC |
p.V707I |
Missense |
17/18 |
- |
1 |
21-27264130-G-A |
c.2115C>T |
p.L705= |
Synonymous |
17/18 |
- |
1 |
21-27264131-AG-CA |
c.2113_2114delinsTG |
p.L705C |
Missense |
17/18 |
- |
1 |
21-27264132-G-C |
c.2113C>G |
p.L705V |
Missense |
17/18 |
- |
10 |
21-27264133-TCC-ACA |
c.2110_2112delinsTGT |
p.G704C |
Missense |
17/18 |
- |
1 |
21-27264134-CC-AG |
c.2110_2111delinsCT |
p.G704L |
Missense |
17/18 |
- |
3 |
21-27264137-AT-CA |
c.2107_2108delinsTG |
p.I703C |
Missense |
17/18 |
- |
1 |
21-27264137-AT-GC |
c.2107_2108delinsGC |
p.I703A |
Missense |
17/18 |
- |
2 |
21-27264138-T-A |
c.2107A>T |
p.I703F |
Missense |
17/18 |
- |
1 |
21-27264140-AT-CA |
c.2104_2105delinsTG |
p.I702C |
Missense |
17/18 |
- |
1 |
21-27264141-T-A |
c.2104A>T |
p.I702F |
Missense |
17/18 |
- |
1 |
21-27264142-TGC-AAA |
c.2101_2103delinsTTT |
p.A701F |
Missense |
17/18 |
- |
1 |
21-27264145-ACC-CCA |
c.2098_2100delinsTGG |
p.G700W |
Missense |
17/18 |
- |
1 |
21-27264146-CC-AA |
c.2098_2099delinsTT |
p.G700F |
Missense |
17/18 |
- |
1 |
21-27264146-CC-AG |
c.2098_2099delinsCT |
p.G700L |
Missense |
17/18 |
- |
2 |
21-27264146-C-G |
c.2099G>C |
p.G700A |
Missense |
17/18 |
- |
3 |
21-27264147-C-A |
c.2098G>T |
p.G700C |
Missense |
17/18 |
- |
2 |
21-27264148-TTT-ACA |
c.2095_2097delinsTGT |
p.K699C |
Missense |
17/18 |
- |
1 |
21-27264147-C-CT |
c.2097dup |
p.G700Rfs*40 |
Frameshift |
17/18 |
- |
1 |
21-27264150-T-C |
c.2095A>G |
p.K699E |
Missense |
17/18 |
- |
1 |
21-27264154-TG-AC |
c.2090_2091delinsGT |
p.S697C |
Missense |
17/18 |
- |
1 |
21-27264160-CAC-ACA |
c.2083_2085delinsTGT |
p.V695C |
Missense |
17/18 |
- |
2 |
21-27264162-C-T |
c.2083G>A |
p.V695M |
Missense |
17/18 |
- |
1 |
21-27264165-C-T |
c.2080G>A |
p.D694N |
Missense |
17/18 |
- |
108 |
21-27264166-T-A |
c.2079A>T |
p.E693D |
Missense |
17/18 |
- |
9 |
21-27264166-T-G |
c.2079A>C |
p.E693D |
Missense |
17/18 |
- |
9 |
21-27264166-TTC-ACA |
c.2077_2079delinsTGT |
p.E693C |
Missense |
17/18 |
- |
1 |
21-27264166-TTC-GTT |
c.2077_2079delinsAAC |
p.E693N |
Missense |
17/18 |
- |
1 |
21-27264163-ATCT-A |
c.2079_2081del |
p.E693del |
InFrameDeletion |
17/18 |
- |
16 |
21-27264167-T-A |
c.2078A>T |
p.E693V |
Missense |
17/18 |
- |
1 |
21-27264167-T-C |
c.2078A>G |
p.E693G |
Missense |
17/18 |
- |
198 |
21-27264167-TC-GG |
c.2077_2078delinsCC |
p.E693P |
Missense |
17/18 |
- |
1 |
21-27264167-T-G |
c.2078A>C |
p.E693A |
Missense |
17/18 |
- |
4 |
21-27264168-C-G |
c.2077G>C |
p.E693Q |
Missense |
17/18 |
- |
207 |
21-27264168-C-T |
c.2077G>A |
p.E693K |
Missense |
17/18 |
- |
42 |
21-27264170-G-C |
c.2075C>G |
p.A692G |
Missense |
17/18 |
- |
51 |
21-27264173-AA-GC |
c.2071_2072delinsGC |
p.F691A |
Missense |
17/18 |
- |
2 |
21-27264176-AA-GC |
c.2068_2069delinsGC |
p.F690A |
Missense |
17/18 |
- |
1 |
21-27264176-AA-GG |
c.2068_2069delinsCC |
p.F690P |
Missense |
17/18 |
- |
2 |
21-27264176-A-G |
c.2069T>C |
p.F690S |
Missense |
17/18 |
- |
1 |
21-27264180-C-A |
c.2065G>T |
p.V689L |
Missense |
17/18 |
- |
1 |
21-27265707-G-A |
c.2065-1527C>T |
- |
IntronicSNV |
- |
16/17 |
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 |
21-27269887-A-C |
c.2062T>G |
p.L688V |
Missense |
16/18 |
- |
1 |
21-27269888-T-A |
c.2061A>T |
p.K687N |
Missense |
16/18 |
- |
12 |
21-27269888-T-G |
c.2061A>C |
p.K687N |
Missense |
16/18 |
- |
12 |
21-27269890-T-G |
c.2059A>C |
p.K687Q |
Missense |
16/18 |
- |
2 |
21-27269891-TTG-ACA |
c.2056_2058delinsTGT |
p.Q686C |
Missense |
16/18 |
- |
1 |
21-27269898-T-C |
c.2051A>G |
p.H684R |
Missense |
16/18 |
- |
1 |
21-27269903-TTC-GTT |
c.2044_2046delinsAAC |
p.E682N |
Missense |
16/18 |
- |
1 |
21-27269904-T-A |
c.2045A>T |
p.E682V |
Missense |
16/18 |
- |
1 |
21-27269904-T-G |
c.2045A>C |
p.E682A |
Missense |
16/18 |
- |
1 |
21-27269905-C-T |
c.2044G>A |
p.E682K |
Missense |
16/18 |
- |
22 |
21-27269907-TA-GC |
c.2041_2042delinsGC |
p.Y681A |
Missense |
16/18 |
- |
1 |
21-27269915-G-A |
c.2034C>T |
p.D678= |
Synonymous |
16/18 |
- |
1 |
21-27269917-C-G |
c.2032G>C |
p.D678H |
Missense |
16/18 |
- |
29 |
21-27269917-C-T |
c.2032G>A |
p.D678N |
Missense |
16/18 |
- |
20 |
21-27269919-T-C |
c.2030A>G |
p.H677R |
Missense |
16/18 |
- |
8 |
21-27269925-A-C |
c.2024T>G |
p.F675C |
Missense |
16/18 |
- |
1 |
21-27269928-T-C |
c.2021A>G |
p.E674G |
Missense |
16/18 |
- |
1 |
21-27269929-C-T |
c.2020G>A |
p.E674K |
Missense |
16/18 |
- |
5 |
21-27269931-G-A |
c.2018C>T |
p.A673V |
Missense |
16/18 |
- |
98 |
21-27269931-GC-AG |
c.2017_2018delinsCT |
p.A673L |
Missense |
16/18 |
- |
1 |
21-27269932-C-T |
c.2017G>A |
p.A673T |
Missense |
16/18 |
- |
241 |
21-27269936-CA-GT |
c.2012_2013delinsAC |
p.M671N |
Missense |
16/18 |
- |
4 |
21-27269938-T-A |
c.2011A>T |
p.M671L |
Missense |
16/18 |
- |
541 |
21-27269938-T-C |
c.2011A>G |
p.M671V |
Missense |
16/18 |
- |
6 |
21-27269938-T-G |
c.2011A>C |
p.M671L |
Missense |
16/18 |
- |
541 |
21-27269939-C-A |
c.2010G>T |
p.K670N |
Missense |
16/18 |
- |
1188 |
21-27269939-C-G |
c.2010G>C |
p.K670N |
Missense |
16/18 |
- |
1188 |
21-27269939-CTT-GTC |
c.2008_2010delinsGAC |
p.K670D |
Missense |
16/18 |
- |
1 |
21-27269940-T-A |
c.2009A>T |
p.K670M |
Missense |
16/18 |
- |
170 |
21-27269940-T-C |
c.2009A>G |
p.K670R |
Missense |
16/18 |
- |
2 |
21-27269940-TT-AG |
c.2008_2009delinsCT |
p.K670L |
Missense |
16/18 |
- |
5 |
21-27269944-C-A |
c.2005G>T |
p.V669L |
Missense |
16/18 |
- |
3 |
21-27269944-C-G |
c.2005G>C |
p.V669L |
Missense |
16/18 |
- |
4 |
21-27269954-C-A |
c.1995G>T |
p.E665D |
Missense |
16/18 |
- |
5 |
21-27269954-C-G |
c.1995G>C |
p.E665D |
Missense |
16/18 |
- |
5 |
21-27269953-TCTC-T |
c.1993_1995del |
p.E665del |
InFrameDeletion |
16/18 |
- |
1 |
21-27269960-C-A |
c.1989G>T |
p.T663= |
Synonymous |
16/18 |
- |
1 |
21-27269960-C-G |
c.1989G>C |
p.T663= |
Synonymous |
16/18 |
- |
1 |
21-27269960-CGT-ACA |
c.1987_1989delinsTGT |
p.T663C |
Missense |
16/18 |
- |
1 |
21-27269960-C-T |
c.1989G>A |
p.T663= |
Synonymous |
16/18 |
- |
1 |
21-27269961-G-A |
c.1988C>T |
p.T663M |
Missense |
16/18 |
- |
3 |
21-27269971-T-A |
c.1978A>T |
p.N660Y |
Missense |
16/18 |
- |
6 |
21-27269982-GA-TC |
c.1966_1967inv |
p.S656D |
Missense |
16/18 |
- |
1 |
21-27269983-A-C |
c.1966T>G |
p.S656A |
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 |
21-27277077-A-C |
c.1963+259T>G |
- |
IntronicSNV |
- |
15/17 |
1 |
21-27277348-T-C |
c.1951A>G |
p.T651A |
Missense |
15/18 |
- |
1 |
21-27277372-G-A |
c.1927C>T |
p.R643C |
Missense |
15/18 |
- |
1 |
21-27277885-T-C |
c.1910-496A>G |
- |
IntronicSNV |
- |
14/17 |
1 |
21-27279448-G-A |
c.1910-2059C>T |
- |
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 |
21-27284076-ACAGAGTCAGCCC-A |
c.1874_1885del |
p.G625_S628del |
InFrameDeletion |
14/18 |
- |
2 |
21-27284084-AG-CT |
c.1877_1878inv |
p.A626E |
Missense |
14/18 |
- |
1 |
21-27284087-CC-GT |
c.1874_1875delinsAC |
p.G625D |
Missense |
14/18 |
- |
1 |
21-27284088-CC-AG |
c.1873_1874delinsCT |
p.G625L |
Missense |
14/18 |
- |
1 |
21-27284088-CC-TT |
c.1873_1874delinsAA |
p.G625K |
Missense |
14/18 |
- |
1 |
21-27284088-C-G |
c.1874G>C |
p.G625A |
Missense |
14/18 |
- |
2 |
21-27284089-C-A |
c.1873G>T |
p.G625W |
Missense |
14/18 |
- |
1 |
21-27284100-C-CACTTTT |
c.1861_1862insAAAAGT |
p.P620_W621ins* |
InFrameInsertion |
14/18 |
- |
1 |
21-27284103-G-A |
c.1859C>T |
p.P620L |
Missense |
14/18 |
- |
7 |
21-27284104-G-A |
c.1858C>T |
p.P620S |
Missense |
14/18 |
- |
1 |
21-27284104-G-C |
c.1858C>G |
p.P620A |
Missense |
14/18 |
- |
5 |
21-27284122-T-C |
c.1840A>G |
p.S614G |
Missense |
14/18 |
- |
4 |
21-27284126-C-T |
c.1836G>A |
p.E612= |
Synonymous |
14/18 |
- |
1 |
21-27284130-C-G |
c.1832G>C |
p.G611A |
Missense |
14/18 |
- |
1 |
21-27284140-G-C |
c.1822C>G |
p.P608A |
Missense |
14/18 |
- |
1 |
21-27284152-C-T |
c.1810G>A |
p.V604M |
Missense |
14/18 |
- |
4 |
21-27284163-G-A |
c.1799C>T |
p.T600M |
Missense |
14/18 |
- |
4 |
21-27284167-C-T |
c.1795G>A |
p.E599K |
Missense |
14/18 |
- |
15 |
21-27284174-A-C |
c.1788T>G |
p.S596= |
Synonymous |
14/18 |
- |
1 |
21-27284211-G-C |
c.1751C>G |
p.P584R |
Missense |
14/18 |
- |
1 |
21-27284214-T-C |
c.1748A>G |
p.E583G |
Missense |
14/18 |
- |
1 |
21-27284223-CATGTT-C |
c.1735_1739del |
p.N579Dfs*2 |
Frameshift |
14/18 |
- |
1 |
21-27284230-C-G |
c.1732G>C |
p.A578P |
Missense |
14/18 |
- |
1 |
21-27284232-A-C |
c.1730T>G |
p.L577W |
Missense |
14/18 |
- |
1 |
21-27284236-C-T |
c.1726G>A |
p.V576I |
Missense |
14/18 |
- |
1 |
21-27284239-C-A |
c.1723G>T |
p.D575Y |
Missense |
14/18 |
- |
1 |
21-27284253-T-TG |
c.1708dup |
p.Q570Pfs*6 |
Frameshift |
14/18 |
- |
1 |
21-27284254-G-A |
c.1708C>T |
p.Q570* |
Nonsense |
14/18 |
- |
1 |
21-27284269-G-A |
c.1693C>T |
p.L565= |
Synonymous |
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 |
21-27314095-T-A |
c.1687+12809A>T |
- |
IntronicSNV |
- |
13/17 |
1 |
21-27314945-C-T |
c.1687+11959G>A |
- |
IntronicSNV |
- |
13/17 |
1 |
21-27315201-C-T |
c.1687+11703G>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 |
21-27321331-GAGA-G |
c.1687+5571_1687+5573del |
- |
IntronicDeletion |
- |
13/17 |
1 |
21-27321921-A-G |
c.1687+4983T>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.V562I |
Missense |
13/18 |
- |
4 |
21-27326936-G-C |
c.1655C>G |
p.P552R |
Missense |
13/18 |
- |
2 |
21-27326936-G-T |
c.1655C>A |
p.P552H |
Missense |
13/18 |
- |
1 |
21-27326943-T-C |
c.1648A>G |
p.N550D |
Missense |
13/18 |
- |
1 |
21-27326942-TTG-T |
c.1647_1648del |
p.Y549* |
Frameshift |
13/18 |
- |
1 |
21-27326958-G-C |
c.1633C>G |
p.L545V |
Missense |
13/18 |
- |
1 |
21-27326979-A-G |
c.1612T>C |
p.Y538H |
Missense |
13/18 |
- |
6 |
21-27326987-C-T |
c.1604G>A |
p.R535H |
Missense |
13/18 |
- |
1 |
21-27327862-G-C |
c.1587+79C>G |
- |
IntronicSNV |
- |
12/17 |
1 |
21-27327943-G-A |
c.1585C>T |
p.Q529* |
Nonsense |
12/18 |
- |
1 |
21-27327946-A-C |
c.1582T>G |
p.S528A |
Missense |
12/18 |
- |
1 |
21-27327948-C-T |
c.1580G>A |
p.R527Q |
Missense |
12/18 |
- |
1 |
21-27327973-C-A |
c.1555G>T |
p.D519Y |
Missense |
12/18 |
- |
1 |
21-27327973-C-T |
c.1555G>A |
p.D519N |
Missense |
12/18 |
- |
1 |
21-27327975-A-G |
c.1553T>C |
p.V518A |
Missense |
12/18 |
- |
1 |
21-27327982-G-A |
c.1546C>T |
p.R516C |
Missense |
12/18 |
- |
1 |
21-27327998-C-A |
c.1530G>T |
p.K510N |
Missense |
12/18 |
- |
2 |
21-27327998-C-G |
c.1530G>C |
p.K510N |
Missense |
12/18 |
- |
2 |
21-27328025-TTC-ACA |
c.1501_1503delinsTGT |
p.E501C |
Missense |
12/18 |
- |
1 |
21-27328028-T-A |
c.1500A>T |
p.A500= |
Synonymous |
12/18 |
- |
1 |
21-27328028-T-C |
c.1500A>G |
p.A500= |
Synonymous |
12/18 |
- |
1 |
21-27328028-T-G |
c.1500A>C |
p.A500= |
Synonymous |
12/18 |
- |
1 |
21-27328030-C-T |
c.1498G>A |
p.A500T |
Missense |
12/18 |
- |
4 |
21-27328032-C-T |
c.1496G>A |
p.R499H |
Missense |
12/18 |
- |
1 |
21-27328033-G-A |
c.1495C>T |
p.R499C |
Missense |
12/18 |
- |
1 |
21-27328042-T-G |
c.1486A>C |
p.K496Q |
Missense |
12/18 |
- |
7 |
21-27328062-TG-GC |
c.1465_1466delinsGC |
p.H489A |
Missense |
12/18 |
- |
1 |
21-27328175-T-C |
c.1459-106A>G |
- |
IntronicSNV |
- |
11/17 |
3 |
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 |
21-27338259-T-G |
c.1458+9124A>C |
- |
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 |
21-27347385-G-A |
c.1456C>T |
p.R486W |
Missense |
11/18 |
- |
1 |
21-27347391-G-A |
c.1450C>T |
p.P484S |
Missense |
11/18 |
- |
1 |
21-27347406-C-A |
c.1435G>T |
p.A479S |
Missense |
11/18 |
- |
3 |
21-27347423-AG-TC |
c.1417_1418delinsGA |
p.L473E |
Missense |
11/18 |
- |
1 |
21-27347438-C-T |
c.1403G>A |
p.R468H |
Missense |
11/18 |
- |
4 |
21-27347463-CTG-C |
c.1377_1378del |
p.R460Sfs*7 |
Frameshift |
11/18 |
- |
1 |
21-27347487-G-C |
c.1354C>G |
p.Q452E |
Missense |
11/18 |
- |
1 |
21-27347491-T-C |
c.1350A>G |
p.R450= |
Synonymous |
11/18 |
- |
1 |
21-27347493-T-G |
c.1348A>C |
p.R450= |
Synonymous |
11/18 |
- |
1 |
21-27347519-G-A |
c.1322C>T |
p.S441F |
Missense |
11/18 |
- |
1 |
21-27347528-TT-GC |
c.1312_1313delinsGC |
p.K438A |
Missense |
11/18 |
- |
1 |
21-27347536-G-A |
c.1305C>T |
p.F435= |
Synonymous |
11/18 |
- |
1 |
21-27348272-T-G |
c.1294A>C |
p.I432L |
Missense |
10/18 |
- |
1 |
21-27348286-T-A |
c.1280A>T |
p.D427V |
Missense |
10/18 |
- |
1 |
21-27348304-TT-GC |
c.1261_1262delinsGC |
p.K421A |
Missense |
10/18 |
- |
1 |
21-27348313-C-G |
c.1253G>C |
p.R418P |
Missense |
10/18 |
- |
1 |
21-27348313-CG-GC |
c.1252_1253delinsGC |
p.R418A |
Missense |
10/18 |
- |
1 |
21-27348313-C-T |
c.1253G>A |
p.R418H |
Missense |
10/18 |
- |
1 |
21-27348316-T-C |
c.1250A>G |
p.E417G |
Missense |
10/18 |
- |
1 |
21-27348328-CA-GC |
c.1237_1238delinsGC |
p.W413A |
Missense |
10/18 |
- |
1 |
21-27348372-A-G |
c.1225-31T>C |
- |
IntronicSNV |
- |
9/17 |
1 |
21-27348447-A-G |
c.1225-106T>C |
- |
IntronicSNV |
- |
9/17 |
1 |
21-27354666-TCT-ATG |
c.1213_1215delinsCAT |
p.R405H |
Missense |
9/18 |
- |
1 |
21-27354668-T-C |
c.1213A>G |
p.R405G |
Missense |
9/18 |
- |
1 |
21-27354673-C-T |
c.1208G>A |
p.R403Q |
Missense |
9/18 |
- |
1 |
21-27354684-C-T |
c.1197G>A |
p.E399= |
Synonymous |
9/18 |
- |
1 |
21-27354686-C-T |
c.1195G>A |
p.E399K |
Missense |
9/18 |
- |
1 |
21-27354687-A-C |
c.1194T>G |
p.L398= |
Synonymous |
9/18 |
- |
1 |
21-27354687-A-G |
c.1194T>C |
p.L398= |
Synonymous |
9/18 |
- |
1 |
21-27354687-A-T |
c.1194T>A |
p.L398= |
Synonymous |
9/18 |
- |
1 |
21-27354688-A-C |
c.1193T>G |
p.L398R |
Missense |
9/18 |
- |
3 |
21-27354691-C-G |
c.1190G>C |
p.R397T |
Missense |
9/18 |
- |
1 |
21-27354703-T-C |
c.1178A>G |
p.K393R |
Missense |
9/18 |
- |
1 |
21-27354707-G-C |
c.1174C>G |
p.Q392E |
Missense |
9/18 |
- |
1 |
21-27354727-T-G |
c.1154A>C |
p.E385A |
Missense |
9/18 |
- |
1 |
21-27354728-C-G |
c.1153G>C |
p.E385Q |
Missense |
9/18 |
- |
1 |
21-27354730-T-G |
c.1151A>C |
p.D384A |
Missense |
9/18 |
- |
1 |
21-27354733-C-A |
c.1148G>T |
p.G383V |
Missense |
9/18 |
- |
1 |
21-27354742-T-C |
c.1139A>G |
p.E380G |
Missense |
9/18 |
- |
1 |
21-27354757-A-G |
c.1124T>C |
p.V375A |
Missense |
9/18 |
- |
1 |
21-27354774-G-A |
c.1107C>T |
p.A369= |
Synonymous |
9/18 |
- |
1 |
21-27354774-G-C |
c.1107C>G |
p.A369= |
Synonymous |
9/18 |
- |
1 |
21-27354774-G-T |
c.1107C>A |
p.A369= |
Synonymous |
9/18 |
- |
1 |
21-27354776-C-T |
c.1105G>A |
p.A369T |
Missense |
9/18 |
- |
1 |
21-27354785-T-C |
c.1096A>G |
p.T366A |
Missense |
9/18 |
- |
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.L364F |
Missense |
8/18 |
- |
4 |
21-27369689-C-T |
c.1076G>A |
p.R359Q |
Missense |
8/18 |
- |
1 |
21-27369690-G-A |
c.1075C>T |
p.R359* |
Nonsense |
8/18 |
- |
2 |
21-27369698-G-A |
c.1067C>T |
p.P356L |
Missense |
8/18 |
- |
1 |
21-27369705-G-T |
c.1060C>A |
p.Q354K |
Missense |
8/18 |
- |
1 |
21-27369708-T-C |
c.1057A>G |
p.T353A |
Missense |
8/18 |
- |
1 |
21-27369713-T-C |
c.1052A>G |
p.K351R |
Missense |
8/18 |
- |
1 |
21-27369722-CT-GC |
c.1042_1043delinsGC |
p.S348A |
Missense |
8/18 |
- |
1 |
21-27369728-GA-TC |
c.1036_1037inv |
p.S346D |
Missense |
8/18 |
- |
1 |
21-27369728-G-C |
c.1037C>G |
p.S346C |
Missense |
8/18 |
- |
1 |
21-27369728-G-T |
c.1037C>A |
p.S346Y |
Missense |
8/18 |
- |
1 |
21-27369729-A-C |
c.1036T>G |
p.S346A |
Missense |
8/18 |
- |
1 |
21-27369838-C-T |
c.1034-107G>A |
- |
IntronicSNV |
- |
7/17 |
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.A344= |
Synonymous |
7/18 |
- |
2 |
21-27372331-G-T |
c.1032C>A |
p.A344= |
Synonymous |
7/18 |
- |
2 |
21-27372332-G-A |
c.1031C>T |
p.A344V |
Missense |
7/18 |
- |
2 |
21-27372332-G-C |
c.1031C>G |
p.A344G |
Missense |
7/18 |
- |
1 |
21-27372333-C-T |
c.1030G>A |
p.A344T |
Missense |
7/18 |
- |
2 |
21-27372336-T-A |
c.1027A>T |
p.S343C |
Missense |
7/18 |
- |
2 |
21-27372337-GCC-CTT |
c.1024_1026delinsAAG |
p.G342K |
Missense |
7/18 |
- |
1 |
21-27372338-C-A |
c.1025G>T |
p.G342V |
Missense |
7/18 |
- |
1 |
21-27372345-C-T |
c.1018G>A |
p.V340M |
Missense |
7/18 |
- |
5 |
21-27372348-C-T |
c.1015G>A |
p.A339T |
Missense |
7/18 |
- |
1 |
21-27372367-G-C |
c.996C>G |
p.D332E |
Missense |
7/18 |
- |
1 |
21-27372367-G-T |
c.996C>A |
p.D332E |
Missense |
7/18 |
- |
1 |
21-27372368-T-C |
c.995A>G |
p.D332G |
Missense |
7/18 |
- |
1 |
21-27372378-T-C |
c.985A>G |
p.N329D |
Missense |
7/18 |
- |
1 |
21-27372380-CG-GC |
c.982_983delinsGC |
p.R328A |
Missense |
7/18 |
- |
1 |
21-27372380-C-T |
c.983G>A |
p.R328Q |
Missense |
7/18 |
- |
1 |
21-27372381-G-A |
c.982C>T |
p.R328W |
Missense |
7/18 |
- |
4 |
21-27372394-T-C |
c.969A>G |
p.G323= |
Synonymous |
7/18 |
- |
1 |
21-27372395-C-G |
c.968G>C |
p.G323A |
Missense |
7/18 |
- |
2 |
21-27372398-C-G |
c.965G>C |
p.G322A |
Missense |
7/18 |
- |
1 |
21-27372399-C-A |
c.964G>T |
p.G322C |
Missense |
7/18 |
- |
1 |
21-27372401-T-A |
c.962A>T |
p.Y321F |
Missense |
7/18 |
- |
1 |
21-27372403-A-C |
c.960T>G |
p.F320L |
Missense |
7/18 |
- |
1 |
21-27372403-A-T |
c.960T>A |
p.F320L |
Missense |
7/18 |
- |
1 |
21-27372405-A-G |
c.958T>C |
p.F320L |
Missense |
7/18 |
- |
1 |
21-27372413-G-A |
c.950C>T |
p.A317V |
Missense |
7/18 |
- |
1 |
21-27372429-T-C |
c.934A>G |
p.T312A |
Missense |
7/18 |
- |
1 |
21-27372439-G-C |
c.924C>G |
p.Y308* |
Nonsense |
7/18 |
- |
2 |
21-27372439-G-T |
c.924C>A |
p.Y308* |
Nonsense |
7/18 |
- |
1 |
21-27372447-G-A |
c.916C>T |
p.R306C |
Missense |
7/18 |
- |
2 |
21-27372448-G-A |
c.915C>T |
p.S305= |
Synonymous |
7/18 |
- |
5 |
21-27372448-G-C |
c.915C>G |
p.S305= |
Synonymous |
7/18 |
- |
5 |
21-27372448-G-T |
c.915C>A |
p.S305= |
Synonymous |
7/18 |
- |
5 |
21-27372449-GA-AT |
c.913_914delinsAT |
p.S305I |
Missense |
7/18 |
- |
2 |
21-27372449-GA-TT |
c.913_914delinsAA |
p.S305N |
Missense |
7/18 |
- |
10 |
21-27372450-A-C |
c.913T>G |
p.S305A |
Missense |
7/18 |
- |
1 |
21-27372455-A-G |
c.908T>C |
p.M303T |
Missense |
7/18 |
- |
1 |
21-27372459-C-T |
c.904G>A |
p.A302T |
Missense |
7/18 |
- |
1 |
21-27372460-TCG-GCT |
c.901_903delinsAGC |
p.R301S |
Missense |
7/18 |
- |
1 |
21-27372461-C-A |
c.902G>T |
p.R301L |
Missense |
7/18 |
- |
1 |
21-27372467-G-A |
c.896C>T |
p.P299L |
Missense |
7/18 |
- |
5 |
21-27372470-CC-GT |
c.892_893delinsAC |
p.G298T |
Missense |
7/18 |
- |
1 |
21-27372472-CG-GA |
c.890_891delinsTC |
p.T297I |
Missense |
7/18 |
- |
1 |
21-27372473-G-A |
c.890C>T |
p.T297M |
Missense |
7/18 |
- |
3 |
21-27372477-C-T |
c.886G>A |
p.E296K |
Missense |
7/18 |
- |
4 |
21-27372482-T-C |
c.881A>G |
p.Q294R |
Missense |
7/18 |
- |
1 |
21-27372491-CA-GC |
c.871_872delinsGC |
p.C291A |
Missense |
7/18 |
- |
1 |
21-27372491-C-G |
c.872G>C |
p.C291S |
Missense |
7/18 |
- |
2 |
21-27372492-A-G |
c.871T>C |
p.C291R |
Missense |
7/18 |
- |
2 |
21-27372492-A-T |
c.871T>A |
p.C291S |
Missense |
7/18 |
- |
2 |
21-27372497-T-A |
c.866A>T |
p.E289V |
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.R288* |
Nonsense |
6/18 |
- |
1 |
21-27394160-AA-CT |
c.860_861delinsAG |
p.V287E |
Missense |
6/18 |
- |
1 |
21-27394161-A-C |
c.860T>G |
p.V287G |
Missense |
6/18 |
- |
3 |
21-27394162-C-T |
c.859G>A |
p.V287I |
Missense |
6/18 |
- |
2 |
21-27394173-A-G |
c.848T>C |
p.V283A |
Missense |
6/18 |
- |
1 |
21-27394177-A-C |
c.844T>G |
p.S282A |
Missense |
6/18 |
- |
1 |
21-27394179-T-G |
c.842A>C |
p.E281A |
Missense |
6/18 |
- |
1 |
21-27394181-CTGT-C |
c.838_840del |
p.T280del |
InFrameDeletion |
6/18 |
- |
1 |
21-27394181-TG-CA |
c.839_840inv |
p.T280M |
Missense |
6/18 |
- |
1 |
21-27394182-G-C |
c.839C>G |
p.T280R |
Missense |
6/18 |
- |
1 |
21-27394183-T-C |
c.838A>G |
p.T280A |
Missense |
6/18 |
- |
1 |
21-27394184-GG-CT |
c.836_837delinsAG |
p.T279K |
Missense |
6/18 |
- |
1 |
21-27394185-G-A |
c.836C>T |
p.T279I |
Missense |
6/18 |
- |
1 |
21-27394194-G-C |
c.827C>G |
p.T276S |
Missense |
6/18 |
- |
2 |
21-27394195-T-A |
c.826A>T |
p.T276S |
Missense |
6/18 |
- |
3 |
21-27394181-TGTG-T |
c.837_839del |
p.T280del |
InFrameDeletion |
6/18 |
- |
1 |
21-27394204-C-T |
c.817G>A |
p.A273T |
Missense |
6/18 |
- |
1 |
21-27394204-GCAA-G |
c.815_817del |
p.I272_A273delinsT |
MultiAAMissense |
6/18 |
- |
1 |
21-27394206-AT-GC |
c.814_815delinsGC |
p.I272A |
Missense |
6/18 |
- |
1 |
21-27394207-T-C |
c.814A>G |
p.I272V |
Missense |
6/18 |
- |
1 |
21-27394208-G-A |
c.813C>T |
p.S271= |
Synonymous |
6/18 |
- |
1 |
21-27394218-C-T |
c.803G>A |
p.R268K |
Missense |
6/18 |
- |
1 |
21-27394219-T-C |
c.802A>G |
p.R268G |
Missense |
6/18 |
- |
1 |
21-27394222-C-G |
c.799G>C |
p.E267Q |
Missense |
6/18 |
- |
3 |
21-27394223-T-A |
c.798A>T |
p.T266= |
Synonymous |
6/18 |
- |
1 |
21-27394223-T-C |
c.798A>G |
p.T266= |
Synonymous |
6/18 |
- |
1 |
21-27394223-T-G |
c.798A>C |
p.T266= |
Synonymous |
6/18 |
- |
1 |
21-27394223-TG-CA |
c.797_798inv |
p.T266M |
Missense |
6/18 |
- |
1 |
21-27394239-G-A |
c.782C>T |
p.P261L |
Missense |
6/18 |
- |
1 |
21-27394251-TC-GT |
c.769_770delinsAC |
p.E257T |
Missense |
6/18 |
- |
1 |
21-27394254-TTC-T |
c.766_767del |
p.E256Rfs*3 |
Frameshift |
6/18 |
- |
1 |
21-27394270-C-T |
c.751G>A |
p.G251S |
Missense |
6/18 |
- |
1 |
21-27394278-T-C |
c.743A>G |
p.D248G |
Missense |
6/18 |
- |
1 |
21-27394279-C-T |
c.742G>A |
p.D248N |
Missense |
6/18 |
- |
1 |
21-27394284-T-G |
c.737A>C |
p.E246A |
Missense |
6/18 |
- |
2 |
21-27394285-C-T |
c.736G>A |
p.E246K |
Missense |
6/18 |
- |
4 |
21-27394287-T-C |
c.734A>G |
p.D245G |
Missense |
6/18 |
- |
1 |
21-27394290-T-C |
c.731A>G |
p.D244G |
Missense |
6/18 |
- |
1 |
21-27394291-C-T |
c.730G>A |
p.D244N |
Missense |
6/18 |
- |
1 |
21-27394294-C-T |
c.727G>A |
p.D243N |
Missense |
6/18 |
- |
5 |
21-27394295-G-A |
c.726C>T |
p.A242= |
Synonymous |
6/18 |
- |
1 |
21-27394295-G-C |
c.726C>G |
p.A242= |
Synonymous |
6/18 |
- |
1 |
21-27394295-G-T |
c.726C>A |
p.A242= |
Synonymous |
6/18 |
- |
1 |
21-27394303-C-T |
c.718G>A |
p.E240K |
Missense |
6/18 |
- |
1 |
21-27394296-GCTT-G |
c.722_724del |
p.E241del |
InFrameDeletion |
6/18 |
- |
1 |
21-27394317-G-A |
c.704C>T |
p.A235V |
Missense |
6/18 |
- |
5 |
21-27394324-C-G |
c.697G>C |
p.E233Q |
Missense |
6/18 |
- |
1 |
21-27394334-TGC-ACA |
c.685_687delinsTGT |
p.A229C |
Missense |
6/18 |
- |
1 |
21-27394336-C-T |
c.685G>A |
p.A229T |
Missense |
6/18 |
- |
1 |
21-27394342-C-T |
c.679G>A |
p.E227K |
Missense |
6/18 |
- |
1 |
21-27394344-A-C |
c.677T>G |
p.V226G |
Missense |
6/18 |
- |
1 |
21-27394347-A-G |
c.674T>C |
p.V225A |
Missense |
6/18 |
- |
2 |
21-27394350-T-C |
c.671A>G |
p.K224R |
Missense |
6/18 |
- |
1 |
21-27394358-A-G |
c.663T>C |
p.S221= |
Synonymous |
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 |
21-27416114-C-CT |
c.662+7201dup |
- |
IntronicInsertion |
- |
5/17 |
1 |
21-27423316-CT-GC |
c.661_662delinsGC |
p.S221A |
Missense |
5/18 |
- |
1 |
21-27423319-C-T |
c.659G>A |
p.G220E |
Missense |
5/18 |
- |
1 |
21-27423333-TGT-ATA |
c.643_645delinsTAT |
p.T215Y |
Missense |
5/18 |
- |
1 |
21-27423333-TGT-GTC |
c.643_645delinsGAC |
p.T215D |
Missense |
5/18 |
- |
1 |
21-27423334-GT-AC |
c.643_644inv |
p.T215V |
Missense |
5/18 |
- |
1 |
21-27423338-C-T |
c.640G>A |
p.D214N |
Missense |
5/18 |
- |
1 |
21-27423346-C-G |
c.632G>C |
p.G211A |
Missense |
5/18 |
- |
1 |
21-27423352-C-T |
c.626G>A |
p.W209* |
Nonsense |
5/18 |
- |
1 |
21-27423361-GA-CC |
c.616_617delinsGG |
p.S206G |
Missense |
5/18 |
- |
1 |
21-27423362-A-C |
c.616T>G |
p.S206A |
Missense |
5/18 |
- |
2 |
21-27423362-A-T |
c.616T>A |
p.S206T |
Missense |
5/18 |
- |
1 |
21-27423362-GA-G |
c.616del |
p.S206Rfs*20 |
Frameshift |
5/18 |
- |
1 |
21-27423367-T-G |
c.611A>C |
p.D204A |
Missense |
5/18 |
- |
1 |
21-27423370-T-C |
c.608A>G |
p.E203G |
Missense |
5/18 |
- |
1 |
21-27423371-C-T |
c.607G>A |
p.E203K |
Missense |
5/18 |
- |
1 |
21-27423372-C-A |
c.606G>T |
p.E202D |
Missense |
5/18 |
- |
1 |
21-27423372-C-G |
c.606G>C |
p.E202D |
Missense |
5/18 |
- |
1 |
21-27423376-G-A |
c.602C>T |
p.A201V |
Missense |
5/18 |
- |
7 |
21-27423378-A-G |
c.600T>C |
p.D200= |
Synonymous |
5/18 |
- |
1 |
21-27423386-A-G |
c.592T>C |
p.S198P |
Missense |
5/18 |
- |
5 |
21-27423385-GA-G |
c.592del |
p.S198Lfs*28 |
Frameshift |
5/18 |
- |
1 |
21-27423390-CA-GT |
c.587_588delinsAC |
p.V196D |
Missense |
5/18 |
- |
1 |
21-27423397-T-G |
c.581A>C |
p.D194A |
Missense |
5/18 |
- |
1 |
21-27423400-CT-GC |
c.577_578delinsGC |
p.S193A |
Missense |
5/18 |
- |
1 |
21-27423404-C-T |
c.574G>A |
p.E192K |
Missense |
5/18 |
- |
2 |
21-27423409-G-A |
c.569C>T |
p.A190V |
Missense |
5/18 |
- |
1 |
21-27423412-AG-GC |
c.565_566delinsGC |
p.L189A |
Missense |
5/18 |
- |
1 |
21-27423421-CA-GC |
c.556_557delinsGC |
p.C186A |
Missense |
5/18 |
- |
3 |
21-27423421-C-T |
c.557G>A |
p.C186Y |
Missense |
5/18 |
- |
1 |
21-27423426-A-C |
c.552T>G |
p.F184L |
Missense |
5/18 |
- |
1 |
21-27423426-A-T |
c.552T>A |
p.F184L |
Missense |
5/18 |
- |
1 |
21-27423428-A-G |
c.550T>C |
p.F184L |
Missense |
5/18 |
- |
1 |
21-27423430-T-G |
c.548A>C |
p.E183A |
Missense |
5/18 |
- |
2 |
21-27423432-TAC-CAT |
c.544_546delinsATG |
p.V182M |
Missense |
5/18 |
- |
1 |
21-27423432-T-C |
c.546A>G |
p.V182= |
Synonymous |
5/18 |
- |
1 |
21-27423439-CG-GC |
c.538_539delinsGC |
p.R180A |
Missense |
5/18 |
- |
1 |
21-27423444-C-T |
c.534G>A |
p.K178= |
Synonymous |
5/18 |
- |
1 |
21-27423445-TT-GC |
c.532_533delinsGC |
p.K178A |
Missense |
5/18 |
- |
1 |
21-27423449-C-T |
c.529G>A |
p.D177N |
Missense |
5/18 |
- |
3 |
21-27423451-A-T |
c.527T>A |
p.I176N |
Missense |
5/18 |
- |
1 |
21-27423452-T-C |
c.526A>G |
p.I176V |
Missense |
5/18 |
- |
1 |
21-27423463-A-T |
c.515T>A |
p.L172Q |
Missense |
5/18 |
- |
1 |
21-27423466-AA-GG |
c.511_512delinsCC |
p.L171P |
Missense |
5/18 |
- |
1 |
21-27423475-T-C |
c.503A>G |
p.Y168C |
Missense |
5/18 |
- |
1 |
21-27423480-A-G |
c.498T>C |
p.H166= |
Synonymous |
5/18 |
- |
1 |
21-27423483-C-A |
c.495G>T |
p.L165F |
Missense |
5/18 |
- |
1 |
21-27423483-C-G |
c.495G>C |
p.L165F |
Missense |
5/18 |
- |
1 |
21-27423491-T-C |
c.487A>G |
p.T163A |
Missense |
5/18 |
- |
1 |
21-27423495-C-A |
c.483G>T |
p.K161N |
Missense |
5/18 |
- |
1 |
21-27423495-C-G |
c.483G>C |
p.K161N |
Missense |
5/18 |
- |
1 |
21-27423499-T-G |
c.479A>C |
p.E160A |
Missense |
5/18 |
- |
1 |
21-27423506-A-G |
c.472T>C |
p.C158R |
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 |
21-27425554-C-T |
c.466G>A |
p.E156K |
Missense |
4/18 |
- |
1 |
21-27425564-GG-CA |
c.455_456delinsTG |
p.T152M |
Missense |
4/18 |
- |
1 |
21-27425565-GT-CA |
c.454_455delinsTG |
p.T152C |
Missense |
4/18 |
- |
2 |
21-27425566-T-C |
c.454A>G |
p.T152A |
Missense |
4/18 |
- |
1 |
21-27425568-TG-CA |
c.451_452inv |
p.H151C |
Missense |
4/18 |
- |
1 |
21-27425568-TG-GC |
c.451_452delinsGC |
p.H151A |
Missense |
4/18 |
- |
1 |
21-27425569-G-T |
c.451C>A |
p.H151N |
Missense |
4/18 |
- |
1 |
21-27425570-CC-AA |
c.449_450delinsTT |
p.W150F |
Missense |
4/18 |
- |
1 |
21-27425570-CC-AT |
c.449_450delinsAT |
p.W150Y |
Missense |
4/18 |
- |
1 |
21-27425571-CA-GC |
c.448_449delinsGC |
p.W150A |
Missense |
4/18 |
- |
1 |
21-27425571-CA-TG |
c.448_449inv |
p.W150Q |
Missense |
4/18 |
- |
1 |
21-27425571-CA-TT |
c.448_449delinsAA |
p.W150K |
Missense |
4/18 |
- |
1 |
21-27425572-A-G |
c.448T>C |
p.W150R |
Missense |
4/18 |
- |
1 |
21-27425572-A-T |
c.448T>A |
p.W150R |
Missense |
4/18 |
- |
1 |
21-27425574-TG-GC |
c.445_446delinsGC |
p.H149A |
Missense |
4/18 |
- |
3 |
21-27425575-G-A |
c.445C>T |
p.H149Y |
Missense |
4/18 |
- |
1 |
21-27425575-G-T |
c.445C>A |
p.H149N |
Missense |
4/18 |
- |
1 |
21-27425577-AG-GC |
c.442_443delinsGC |
p.L148A |
Missense |
4/18 |
- |
1 |
21-27425580-TG-GC |
c.439_440delinsGC |
p.H147A |
Missense |
4/18 |
- |
1 |
21-27425581-G-T |
c.439C>A |
p.H147N |
Missense |
4/18 |
- |
1 |
21-27425583-GT-CA |
c.436_437delinsTG |
p.T146C |
Missense |
4/18 |
- |
2 |
21-27425583-GT-CC |
c.436_437delinsGG |
p.T146G |
Missense |
4/18 |
- |
1 |
21-27425584-T-C |
c.436A>G |
p.T146A |
Missense |
4/18 |
- |
1 |
21-27425587-C-T |
c.433G>A |
p.E145K |
Missense |
4/18 |
- |
1 |
21-27425596-C-T |
c.424G>A |
p.D142N |
Missense |
4/18 |
- |
2 |
21-27425597-C-A |
c.423G>T |
p.M141I |
Missense |
4/18 |
- |
1 |
21-27425597-C-G |
c.423G>C |
p.M141I |
Missense |
4/18 |
- |
1 |
21-27425597-C-T |
c.423G>A |
p.M141I |
Missense |
4/18 |
- |
1 |
21-27425598-AT-GC |
c.421_422delinsGC |
p.M141A |
Missense |
4/18 |
- |
1 |
21-27425599-T-A |
c.421A>T |
p.M141L |
Missense |
4/18 |
- |
2 |
21-27425599-T-G |
c.421A>C |
p.M141L |
Missense |
4/18 |
- |
2 |
21-27425601-CT-GC |
c.418_419delinsGC |
p.R140A |
Missense |
4/18 |
- |
1 |
21-27425601-CT-TG |
c.418_419delinsCA |
p.R140Q |
Missense |
4/18 |
- |
1 |
21-27425604-T-G |
c.416A>C |
p.E139A |
Missense |
4/18 |
- |
1 |
21-27425605-C-A |
c.415G>T |
p.E139* |
Nonsense |
4/18 |
- |
1 |
21-27425605-C-T |
c.415G>A |
p.E139K |
Missense |
4/18 |
- |
1 |
21-27425607-T-C |
c.413A>G |
p.Q138R |
Missense |
4/18 |
- |
1 |
21-27425607-TG-GC |
c.412_413delinsGC |
p.Q138A |
Missense |
4/18 |
- |
1 |
21-27425610-T-C |
c.410A>G |
p.H137R |
Missense |
4/18 |
- |
1 |
21-27425610-TG-GC |
c.409_410delinsGC |
p.H137A |
Missense |
4/18 |
- |
2 |
21-27425612-T-A |
c.408A>T |
p.L136F |
Missense |
4/18 |
- |
1 |
21-27425612-T-G |
c.408A>C |
p.L136F |
Missense |
4/18 |
- |
1 |
21-27425621-G-T |
c.399C>A |
p.C133* |
Nonsense |
4/18 |
- |
1 |
21-27425625-TT-GC |
c.394_395delinsGC |
p.K132A |
Missense |
4/18 |
- |
1 |
21-27425630-AG-TT |
c.389_390delinsAA |
p.P130Q |
Missense |
4/18 |
- |
1 |
21-27425631-G-A |
c.389C>T |
p.P130L |
Missense |
4/18 |
- |
2 |
21-27425632-G-A |
c.388C>T |
p.P130S |
Missense |
4/18 |
- |
1 |
21-27425633-AAC-CAT |
c.385_387delinsATG |
p.V129M |
Missense |
4/18 |
- |
1 |
21-27425633-AA-CT |
c.386_387delinsAG |
p.V129E |
Missense |
4/18 |
- |
1 |
21-27425633-A-C |
c.387T>G |
p.V129= |
Synonymous |
4/18 |
- |
1 |
21-27425633-A-G |
c.387T>C |
p.V129= |
Synonymous |
4/18 |
- |
1 |
21-27425633-A-T |
c.387T>A |
p.V129= |
Synonymous |
4/18 |
- |
1 |
21-27425640-AG-CT |
c.379_380inv |
p.L127S |
Missense |
4/18 |
- |
1 |
21-27425644-C-T |
c.376G>A |
p.A126T |
Missense |
4/18 |
- |
1 |
21-27425658-T-G |
c.362A>C |
p.E121A |
Missense |
4/18 |
- |
1 |
21-27425660-A-C |
c.360T>G |
p.G120= |
Synonymous |
4/18 |
- |
1 |
21-27425660-A-G |
c.360T>C |
p.G120= |
Synonymous |
4/18 |
- |
1 |
21-27425660-A-T |
c.360T>A |
p.G120= |
Synonymous |
4/18 |
- |
1 |
21-27425662-C-G |
c.358G>C |
p.G120R |
Missense |
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 |
3 |
21-27428256-C-T |
c.356-2592G>A |
- |
IntronicSNV |
- |
3/17 |
3 |
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.C117A |
Missense |
3/18 |
- |
2 |
21-27462265-A-C |
c.349T>G |
p.C117G |
Missense |
3/18 |
- |
1 |
21-27462267-CG-GC |
c.346_347delinsGC |
p.R116A |
Missense |
3/18 |
- |
1 |
21-27462268-G-A |
c.346C>T |
p.R116C |
Missense |
3/18 |
- |
2 |
21-27462270-T-C |
c.344A>G |
p.Y115C |
Missense |
3/18 |
- |
4 |
21-27462276-A-G |
c.338T>C |
p.I113T |
Missense |
3/18 |
- |
2 |
21-27462279-A-G |
c.335T>C |
p.V112A |
Missense |
3/18 |
- |
1 |
21-27462285-TG-GC |
c.328_329delinsGC |
p.H110A |
Missense |
3/18 |
- |
1 |
21-27462286-G-A |
c.328C>T |
p.H110Y |
Missense |
3/18 |
- |
1 |
21-27462286-G-T |
c.328C>A |
p.H110N |
Missense |
3/18 |
- |
1 |
21-27462300-CA-GC |
c.313_314delinsGC |
p.C105A |
Missense |
3/18 |
- |
1 |
21-27462300-C-G |
c.314G>C |
p.C105S |
Missense |
3/18 |
- |
1 |
21-27462301-A-T |
c.313T>A |
p.C105S |
Missense |
3/18 |
- |
1 |
21-27462307-T-G |
c.307A>C |
p.K103Q |
Missense |
3/18 |
- |
1 |
21-27462309-CG-GC |
c.304_305delinsGC |
p.R102A |
Missense |
3/18 |
- |
1 |
21-27462314-CCG-ATA |
c.298_300delinsTAT |
p.R100Y |
Missense |
3/18 |
- |
1 |
21-27462314-CCG-GAT |
c.298_300delinsATC |
p.R100I |
Missense |
3/18 |
- |
1 |
21-27462315-C-A |
c.299G>T |
p.R100L |
Missense |
3/18 |
- |
1 |
21-27462315-CG-AC |
c.298_299delinsGT |
p.R100V |
Missense |
3/18 |
- |
1 |
21-27462315-CG-TC |
c.298_299delinsGA |
p.R100E |
Missense |
3/18 |
- |
4 |
21-27462316-G-A |
c.298C>T |
p.R100W |
Missense |
3/18 |
- |
5 |
21-27462321-CA-GC |
c.292_293delinsGC |
p.C98A |
Missense |
3/18 |
- |
1 |
21-27462324-C-T |
c.290G>A |
p.W97* |
Nonsense |
3/18 |
- |
1 |
21-27462335-G-A |
c.279C>T |
p.T93= |
Synonymous |
3/18 |
- |
1 |
21-27462342-G-A |
c.272C>T |
p.P91L |
Missense |
3/18 |
- |
1 |
21-27462345-T-C |
c.269A>G |
p.Q90R |
Missense |
3/18 |
- |
2 |
21-27462351-G-T |
c.263C>A |
p.A88D |
Missense |
3/18 |
- |
1 |
21-27462353-T-C |
c.261A>G |
p.E87= |
Synonymous |
3/18 |
- |
1 |
21-27462353-TTC-ACA |
c.259_261delinsTGT |
p.E87C |
Missense |
3/18 |
- |
1 |
21-27462354-TC-CT |
c.259_260delinsAG |
p.E87R |
Missense |
3/18 |
- |
1 |
21-27462354-T-G |
c.260A>C |
p.E87A |
Missense |
3/18 |
- |
1 |
21-27462360-AC-GT |
c.253_254inv |
p.V85T |
Missense |
3/18 |
- |
1 |
21-27462372-T-A |
c.242A>T |
p.Q81L |
Missense |
3/18 |
- |
1 |
21-27462388-C-T |
c.226G>A |
p.V76I |
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 |
4 |
21-27473875-C-T |
c.225+10421G>A |
- |
IntronicSNV |
- |
2/17 |
4 |
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 |
21-27484296-T-C |
c.225A>G |
p.E75= |
Synonymous |
2/18 |
- |
1 |
21-27484297-TC-GT |
c.223_224delinsAC |
p.E75T |
Missense |
2/18 |
- |
1 |
21-27484306-T-C |
c.215A>G |
p.Y72C |
Missense |
2/18 |
- |
1 |
21-27484309-T-A |
c.212A>T |
p.Q71L |
Missense |
2/18 |
- |
2 |
21-27484310-G-GTTCTTGGCAATACTGCAGGATGCCTTCCTTGGTATCAATGCAGGTTTTGGTCCCTGATGGATCTGAATCCCA |
c.210_211insTGGGATTCAGATCCATCAGGGACCAAAACCTGCATTGATACCAAGGAAGGCATCCTGCAGTATTGCCAAGAA |
p.L70_Q71insWDSDPSGTKTCIDTKEGILQYCQE |
InFrameInsertion |
2/18 |
- |
1 |
21-27484316-T-C |
c.205A>G |
p.I69V |
Missense |
2/18 |
- |
1 |
21-27484318-CC-AT |
c.202_203delinsAT |
p.G68I |
Missense |
2/18 |
- |
1 |
21-27484319-C-A |
c.202G>T |
p.G68C |
Missense |
2/18 |
- |
1 |
21-27484327-G-C |
c.194C>G |
p.T65S |
Missense |
2/18 |
- |
1 |
21-27484327-GT-CC |
c.193_194delinsGG |
p.T65G |
Missense |
2/18 |
- |
1 |
21-27484328-T-A |
c.193A>T |
p.T65S |
Missense |
2/18 |
- |
1 |
21-27484328-T-C |
c.193A>G |
p.T65A |
Missense |
2/18 |
- |
2 |
21-27484330-T-A |
c.191A>T |
p.D64V |
Missense |
2/18 |
- |
1 |
21-27484333-A-G |
c.188T>C |
p.I63T |
Missense |
2/18 |
- |
1 |
21-27484335-G-T |
c.186C>A |
p.C62* |
Nonsense |
2/18 |
- |
1 |
21-27484336-C-T |
c.185G>A |
p.C62Y |
Missense |
2/18 |
- |
1 |
21-27484336-C-G |
c.185G>C |
p.C62S |
Missense |
2/18 |
- |
1 |
21-27484337-A-T |
c.184T>A |
p.C62S |
Missense |
2/18 |
- |
1 |
21-27484338-GG-CC |
c.182_183inv |
p.T61R |
Missense |
2/18 |
- |
2 |
21-27484339-G-A |
c.182C>T |
p.T61I |
Missense |
2/18 |
- |
1 |
21-27484345-G-A |
c.176C>T |
p.T59I |
Missense |
2/18 |
- |
1 |
21-27484349-C-G |
c.172G>C |
p.G58R |
Missense |
2/18 |
- |
1 |
21-27484349-C-T |
c.172G>A |
p.G58R |
Missense |
2/18 |
- |
1 |
21-27484352-A-G |
c.169T>C |
p.S57P |
Missense |
2/18 |
- |
1 |
21-27484357-TC-AA |
c.163_164delinsTT |
p.D55F |
Missense |
2/18 |
- |
1 |
21-27484362-ATC-TTA |
c.157_159delinsTAA |
p.D53* |
Nonsense |
2/18 |
- |
1 |
21-27484369-T-G |
c.152A>C |
p.K51T |
Missense |
2/18 |
- |
1 |
21-27484373-C-T |
c.148G>A |
p.G50R |
Missense |
2/18 |
- |
1 |
21-27484382-C-G |
c.139G>C |
p.V47L |
Missense |
2/18 |
- |
1 |
21-27484385-T-C |
c.136A>G |
p.N46D |
Missense |
2/18 |
- |
1 |
21-27484392-C-A |
c.129G>T |
p.M43I |
Missense |
2/18 |
- |
1 |
21-27484392-C-G |
c.129G>C |
p.M43I |
Missense |
2/18 |
- |
1 |
21-27484392-C-T |
c.129G>A |
p.M43I |
Missense |
2/18 |
- |
1 |
21-27484395-GTT-TTG |
c.124_126delinsCAA |
p.N42Q |
Missense |
2/18 |
- |
1 |
21-27484399-A-G |
c.122T>C |
p.L41P |
Missense |
2/18 |
- |
1 |
21-27484400-G-GTTCTTGGCAATACTGCAGGATGCCTTCCTTGGTATCAATGCAGGTTTTGGTCCCTGATGGATCTGAATCCCA |
c.120_121insTGGGATTCAGATCCATCAGGGACCAAAACCTGCATTGATACCAAGGAAGGCATCCTGCAGTATTGCCAAGAA |
p.R40_L41insWDSDPSGTKTCIDTKEGILQYCQE |
InFrameInsertion |
2/18 |
- |
1 |
21-27484401-TCT-CCA |
c.118_120delinsTGG |
p.R40W |
Missense |
2/18 |
- |
1 |
21-27484402-CT-AG |
c.118_119inv |
p.R40L |
Missense |
2/18 |
- |
1 |
21-27484403-T-C |
c.118A>G |
p.R40G |
Missense |
2/18 |
- |
1 |
21-27484405-C-G |
c.116G>C |
p.G39A |
Missense |
2/18 |
- |
1 |
21-27484406-C-A |
c.115G>T |
p.G39C |
Missense |
2/18 |
- |
1 |
21-27484408-CA-TC |
c.112_113delinsGA |
p.C38D |
Missense |
2/18 |
- |
2 |
21-27484409-A-C |
c.112T>G |
p.C38G |
Missense |
2/18 |
- |
1 |
21-27484410-G-C |
c.111C>G |
p.F37L |
Missense |
2/18 |
- |
1 |
21-27484411-AA-GC |
c.109_110delinsGC |
p.F37A |
Missense |
2/18 |
- |
1 |
21-27484413-C-A |
c.108G>T |
p.M36I |
Missense |
2/18 |
- |
1 |
21-27484413-C-G |
c.108G>C |
p.M36I |
Missense |
2/18 |
- |
1 |
21-27484413-C-T |
c.108G>A |
p.M36I |
Missense |
2/18 |
- |
1 |
21-27484414-AT-TA |
c.106_107delinsTA |
p.M36* |
Nonsense |
2/18 |
- |
1 |
21-27484417-GC-AA |
c.103_104delinsTT |
p.A35F |
Missense |
2/18 |
- |
1 |
21-27484418-C-T |
c.103G>A |
p.A35T |
Missense |
2/18 |
- |
2 |
21-27484421-T-C |
c.100A>G |
p.I34V |
Missense |
2/18 |
- |
1 |
21-27484423-T-C |
c.98A>G |
p.Q33R |
Missense |
2/18 |
- |
1 |
21-27484424-G-C |
c.97C>G |
p.Q33E |
Missense |
2/18 |
- |
1 |
21-27484431-AG-CT |
c.89_90inv |
p.A30E |
Missense |
2/18 |
- |
1 |
21-27484432-G-C |
c.89C>G |
p.A30G |
Missense |
2/18 |
- |
2 |
21-27484432-GC-CA |
c.88_89delinsTG |
p.A30C |
Missense |
2/18 |
- |
1 |
21-27484432-G-T |
c.89C>A |
p.A30D |
Missense |
2/18 |
- |
1 |
21-27484433-C-G |
c.88G>C |
p.A30P |
Missense |
2/18 |
- |
144 |
21-27484433-C-T |
c.88G>A |
p.A30T |
Missense |
2/18 |
- |
1 |
21-27484437-GCA-G |
c.83_84del |
p.L28Pfs*3 |
Frameshift |
2/18 |
- |
1 |
21-27484438-A-G |
c.83T>C |
p.L28P |
Missense |
2/18 |
- |
3 |
21-27484438-AG-CC |
c.82_83delinsGG |
p.L28G |
Missense |
2/18 |
- |
1 |
21-27484439-G-C |
c.82C>G |
p.L28V |
Missense |
2/18 |
- |
1 |
21-27484444-GC-CA |
c.76_77delinsTG |
p.A26C |
Missense |
2/18 |
- |
1 |
21-27484444-GC-TT |
c.76_77delinsAA |
p.A26N |
Missense |
2/18 |
- |
1 |
21-27484445-C-T |
c.76G>A |
p.A26T |
Missense |
2/18 |
- |
1 |
21-27484452-ATC-CTT |
c.67_69delinsAAG |
p.D23K |
Missense |
2/18 |
- |
3 |
21-27484453-T-C |
c.68A>G |
p.D23G |
Missense |
2/18 |
- |
4 |
21-27484453-TC-AA |
c.67_68delinsTT |
p.D23F |
Missense |
2/18 |
- |
1 |
21-27484453-TC-CT |
c.67_68delinsAG |
p.D23S |
Missense |
2/18 |
- |
2 |
21-27484453-TC-GG |
c.67_68delinsCC |
p.D23P |
Missense |
2/18 |
- |
1 |
21-27484453-T-G |
c.68A>C |
p.D23A |
Missense |
2/18 |
- |
1 |
21-27484454-C-A |
c.67G>T |
p.D23Y |
Missense |
2/18 |
- |
2 |
21-27484454-C-T |
c.67G>A |
p.D23N |
Missense |
2/18 |
- |
89 |
21-27484456-G-T |
c.65C>A |
p.T22N |
Missense |
2/18 |
- |
5 |
21-27484458-GGG-CCA |
c.61_63delinsTGG |
p.P21W |
Missense |
2/18 |
- |
1 |
21-27484459-GG-TT |
c.61_62delinsAA |
p.P21N |
Missense |
2/18 |
- |
1 |
21-27484460-G-A |
c.61C>T |
p.P21S |
Missense |
2/18 |
- |
2 |
21-27484460-G-C |
c.61C>G |
p.P21A |
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 |
1 |
21-27500333-C-T |
c.58-15870G>A |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27500660-T-G |
c.58-16197A>C |
- |
IntronicSNV |
- |
1/17 |
2 |
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 |
21-27534261-T-A |
c.57+8621A>T |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27534261-T-C |
c.57+8621A>G |
- |
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 |
3 |
21-27537584-A-G |
c.57+5298T>C |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27542881-C-CTTCTTGGCAATACTGCAGGATGCCTTCCTTGGTATCAATGCAGGTTTTGGTCCCTGATGGATCTGAATCCCA |
c.57_57+1insTGGGATTCAGATCCATCAGGGACCAAAACCTGCATTGATACCAAGGAAGGCATCCTGCAGTATTGCCAAGAA |
p.E19_V20insWDSDPSGTKTCIDTKEGILQYCQE |
SpliceDonorInsertion |
- |
- |
1 |
21-27542882-CTC-ACA |
c.55_57delinsTGT |
p.E19C |
Missense |
1/18 |
- |
1 |
21-27542886-A-C |
c.53T>G |
p.L18R |
Missense |
1/18 |
- |
1 |
21-27542886-AG-GC |
c.52_53delinsGC |
p.L18A |
Missense |
1/18 |
- |
1 |
21-27542887-G-C |
c.52C>G |
p.L18V |
Missense |
1/18 |
- |
1 |
21-27542888-C-A |
c.51G>T |
p.A17= |
Synonymous |
1/18 |
- |
1 |
21-27542888-C-G |
c.51G>C |
p.A17= |
Synonymous |
1/18 |
- |
1 |
21-27542888-C-T |
c.51G>A |
p.A17= |
Synonymous |
1/18 |
- |
1 |
21-27542889-G-T |
c.50C>A |
p.A17E |
Missense |
1/18 |
- |
1 |
21-27542891-CCG-ACA |
c.46_48delinsTGT |
p.R16C |
Missense |
1/18 |
- |
1 |
21-27542891-CCG-GTC |
c.46_48delinsGAC |
p.R16D |
Missense |
1/18 |
- |
1 |
21-27542892-CG-GC |
c.46_47delinsGC |
p.R16A |
Missense |
1/18 |
- |
2 |
21-27542892-C-T |
c.47G>A |
p.R16Q |
Missense |
1/18 |
- |
1 |
21-27542891-C-A |
c.48G>T |
p.R16= |
Synonymous |
1/18 |
- |
1 |
21-27542891-C-G |
c.48G>C |
p.R16= |
Synonymous |
1/18 |
- |
1 |
21-27542891-C-T |
c.48G>A |
p.R16= |
Synonymous |
1/18 |
- |
1 |
21-27542893-G-A |
c.46C>T |
p.R16W |
Missense |
1/18 |
- |
1 |
21-27542893-G-C |
c.46C>G |
p.R16G |
Missense |
1/18 |
- |
2 |
21-27542893-G-T |
c.46C>A |
p.R16= |
Synonymous |
1/18 |
- |
1 |
21-27542894-AG-CT |
c.44_45inv |
p.A15E |
Missense |
1/18 |
- |
2 |
21-27542895-G-C |
c.44C>G |
p.A15G |
Missense |
1/18 |
- |
1 |
21-27542895-GC-CA |
c.43_44delinsTG |
p.A15C |
Missense |
1/18 |
- |
1 |
21-27542896-C-A |
c.43G>T |
p.A15S |
Missense |
1/18 |
- |
1 |
21-27542898-GT-CA |
c.40_41delinsTG |
p.T14W |
Missense |
1/18 |
- |
1 |
21-27542903-G-A |
c.36C>T |
p.A12= |
Synonymous |
1/18 |
- |
2 |
21-27542903-G-C |
c.36C>G |
p.A12= |
Synonymous |
1/18 |
- |
2 |
21-27542903-GG-CT |
c.35_36delinsAG |
p.A12E |
Missense |
1/18 |
- |
1 |
21-27542903-G-T |
c.36C>A |
p.A12= |
Synonymous |
1/18 |
- |
2 |
21-27542904-GC-AA |
c.34_35delinsTT |
p.A12F |
Missense |
1/18 |
- |
2 |
21-27542904-GC-CA |
c.34_35delinsTG |
p.A12C |
Missense |
1/18 |
- |
1 |
21-27542904-G-T |
c.35C>A |
p.A12D |
Missense |
1/18 |
- |
1 |
21-27542906-G-A |
c.33C>T |
p.A11= |
Synonymous |
1/18 |
- |
2 |
21-27542906-G-C |
c.33C>G |
p.A11= |
Synonymous |
1/18 |
- |
2 |
21-27542906-GG-CT |
c.32_33delinsAG |
p.A11E |
Missense |
1/18 |
- |
2 |
21-27542906-G-T |
c.33C>A |
p.A11= |
Synonymous |
1/18 |
- |
2 |
21-27542907-GC-CG |
c.31_32delinsCG |
p.A11R |
Missense |
1/18 |
- |
1 |
21-27542907-G-T |
c.32C>A |
p.A11D |
Missense |
1/18 |
- |
1 |
21-27542909-CAG-GAT |
c.28_30delinsATC |
p.L10I |
Missense |
1/18 |
- |
1 |
21-27542910-A-G |
c.29T>C |
p.L10P |
Missense |
1/18 |
- |
1 |
21-27542910-AG-GC |
c.28_29delinsGC |
p.L10A |
Missense |
1/18 |
- |
6 |
21-27542910-AG-TT |
c.28_29delinsAA |
p.L10K |
Missense |
1/18 |
- |
1 |
21-27542917-G-A |
c.22C>T |
p.L8F |
Missense |
1/18 |
- |
2 |
21-27542927-A-C |
c.12T>G |
p.G4= |
Synonymous |
1/18 |
- |
1 |
21-27542927-A-G |
c.12T>C |
p.G4= |
Synonymous |
1/18 |
- |
1 |
21-27542927-A-T |
c.12T>A |
p.G4= |
Synonymous |
1/18 |
- |
1 |
21-27542930-G-A |
c.9C>T |
p.P3= |
Synonymous |
1/18 |
- |
2 |
21-27542930-G-C |
c.9C>G |
p.P3= |
Synonymous |
1/18 |
- |
2 |
21-27542930-G-T |
c.9C>A |
p.P3= |
Synonymous |
1/18 |
- |
2 |
21-27542933-C-A |
c.6G>T |
p.L2= |
Synonymous |
1/18 |
- |
1 |
21-27542933-C-G |
c.6G>C |
p.L2= |
Synonymous |
1/18 |
- |
1 |
21-27542933-C-T |
c.6G>A |
p.L2= |
Synonymous |
1/18 |
- |
1 |
21-27542935-G-A |
c.4C>T |
p.L2= |
Synonymous |
1/18 |
- |
1 |
21-27542938-T-C |
c.1A>G |
p.M1? |
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 |