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 |
- |
2 |
21-27253148-T-C |
c.*833A>G |
- |
3-UTRSNV |
18/18 |
- |
1 |
21-27253148-T-G |
c.*833A>C |
- |
3-UTRSNV |
18/18 |
- |
1 |
21-27253201-A-G |
c.*780T>C |
- |
3-UTRSNV |
18/18 |
- |
1 |
21-27253423-A-G |
c.*558T>C |
- |
3-UTRSNV |
18/18 |
- |
1 |
21-27253424-T-C |
c.*557A>G |
- |
3-UTRSNV |
18/18 |
- |
1 |
21-27253609-T-C |
c.*372A>G |
- |
3-UTRSNV |
18/18 |
- |
2 |
21-27253736-T-G |
c.*245A>C |
- |
3-UTRSNV |
18/18 |
- |
1 |
21-27253739-A-G |
c.*242T>C |
- |
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 |
- |
2 |
21-27253983-A-G |
c.2311T>C |
p.*771Qext*26 |
Missense |
18/18 |
- |
1 |
21-27253984-G-C |
c.2310C>G |
p.N770K |
Missense |
18/18 |
- |
1 |
21-27253989-G-A |
c.2305C>T |
p.Q769* |
Nonsense |
18/18 |
- |
1 |
21-27253994-T-C |
c.2300A>G |
p.Q767R |
Missense |
18/18 |
- |
3 |
21-27253999-AAAGAACTTGTAGGTTGGATTTTCGTAGCCGTTCTGCTGCATCTTGGACAGGTGGCGCT-C |
c.2237_2295delinsG |
p.E746Gfs*31 |
Multi:SpliceDonorBlockSubstitution,SpliceAcceptorBlockSubstitution |
18/18 |
- |
1 |
21-27253999-A-G |
c.2295T>C |
p.F765= |
Synonymous |
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 |
21-27254002-G-T |
c.2292C>A |
p.F764L |
Missense |
18/18 |
- |
6 |
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 |
21-27254002-G-C |
c.2292C>G |
p.F764L |
Missense |
18/18 |
- |
5 |
21-27254004-A-G |
c.2290T>C |
p.F764L |
Missense |
18/18 |
- |
5 |
21-27254005-C-T |
c.2289G>A |
p.K763= |
Synonymous |
18/18 |
- |
1 |
21-27254006-T-C |
c.2288A>G |
p.K763R |
Missense |
18/18 |
- |
2 |
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 |
21-27254007-T-C |
c.2287A>G |
p.K763E |
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 |
21-27254011-G-C |
c.2283C>G |
p.T761= |
Synonymous |
18/18 |
- |
1 |
21-27254013-T-C |
c.2281A>G |
p.T761A |
Missense |
18/18 |
- |
2 |
21-27254014-T-C |
c.2280A>G |
p.P760= |
Synonymous |
18/18 |
- |
2 |
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 |
21-27254019-T-C |
c.2275A>G |
p.N759D |
Missense |
18/18 |
- |
1 |
21-27254017-AT-A |
c.2276del |
p.N759Ifs*37 |
Frameshift |
18/18 |
- |
1 |
21-27254022-C-T |
c.2272G>A |
p.E758K |
Missense |
18/18 |
- |
1 |
21-27254023-G-A |
c.2271C>T |
p.Y757= |
Synonymous |
18/18 |
- |
3 |
21-27254023-G-C |
c.2271C>G |
p.Y757* |
Nonsense |
18/18 |
- |
1 |
21-27254023-G-T |
c.2271C>A |
p.Y757* |
Nonsense |
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 |
21-27254028-C-T |
c.2266G>A |
p.G756S |
Missense |
18/18 |
- |
2 |
21-27254029-G-A |
c.2265C>T |
p.N755= |
Synonymous |
18/18 |
- |
4 |
21-27254032-C-A |
c.2262G>T |
p.Q754H |
Missense |
18/18 |
- |
1 |
21-27254035-C-A |
c.2259G>T |
p.Q753H |
Missense |
18/18 |
- |
1 |
21-27254035-C-G |
c.2259G>C |
p.Q753H |
Missense |
18/18 |
- |
1 |
21-27254036-CT-C |
c.2258del |
p.Q753Rfs*43 |
Frameshift |
18/18 |
- |
1 |
21-27254037-G-A |
c.2257C>T |
p.Q753* |
Nonsense |
18/18 |
- |
5 |
21-27254038-C-A |
c.2256G>T |
p.M752I |
Missense |
18/18 |
- |
5 |
21-27254038-C-G |
c.2256G>C |
p.M752I |
Missense |
18/18 |
- |
3 |
21-27254038-C-T |
c.2256G>A |
p.M752I |
Missense |
18/18 |
- |
3 |
21-27254041-C-G |
c.2253G>C |
p.K751N |
Missense |
18/18 |
- |
1 |
21-27254041-C-T |
c.2253G>A |
p.K751= |
Synonymous |
18/18 |
- |
1 |
21-27254042-T-C |
c.2252A>G |
p.K751R |
Missense |
18/18 |
- |
1 |
21-27254043-T-C |
c.2251A>G |
p.K751E |
Missense |
18/18 |
- |
3 |
21-27254045-G-C |
c.2249C>G |
p.S750C |
Missense |
18/18 |
- |
3 |
21-27254049-G-A |
c.2245C>T |
p.L749= |
Synonymous |
18/18 |
- |
3 |
21-27254050-G-T |
c.2244C>A |
p.H748Q |
Missense |
18/18 |
- |
1 |
21-27254054-C-G |
c.2240G>C |
p.R747P |
Missense |
18/18 |
- |
7 |
21-27254054-C-T |
c.2240G>A |
p.R747H |
Missense |
18/18 |
- |
2 |
21-27254055-G-A |
c.2239C>T |
p.R747C |
Missense |
18/18 |
- |
5 |
21-27254061-C-G |
c.2233G>C |
p.E745Q |
Missense |
18/18 |
- |
1 |
21-27254061-C-T |
c.2233G>A |
p.E745K |
Missense |
18/18 |
- |
1 |
21-27254063-G-A |
c.2231C>T |
p.P744L |
Missense |
18/18 |
- |
1 |
21-27254064-G-A |
c.2230C>T |
p.P744S |
Missense |
18/18 |
- |
1 |
21-27254065-G-A |
c.2229C>T |
p.T743= |
Synonymous |
18/18 |
- |
1 |
21-27254067-T-C |
c.2227A>G |
p.T743A |
Missense |
18/18 |
- |
1 |
21-27254070-C-G |
c.2224G>C |
p.V742L |
Missense |
18/18 |
- |
1 |
21-27254073-C-A |
c.2221G>T |
p.A741S |
Missense |
18/18 |
- |
2 |
21-27254073-C-T |
c.2221G>A |
p.A741T |
Missense |
18/18 |
- |
1 |
21-27254076-C-A |
c.2218G>T |
p.A740S |
Missense |
18/18 |
- |
2 |
21-27254076-C-T |
c.2218G>A |
p.A740T |
Missense |
18/18 |
- |
1 |
21-27254077-G-A |
c.2217C>T |
p.D739= |
Synonymous |
18/18 |
- |
2 |
21-27254078-T-A |
c.2216A>T |
p.D739V |
Missense |
18/18 |
- |
1 |
21-27254082-C-T |
c.2212G>A |
p.V738I |
Missense |
18/18 |
- |
1 |
21-27254092-A-C |
c.2212-10T>G |
- |
IntronicSNV |
- |
17/17 |
3 |
21-27254092-A-G |
c.2212-10T>C |
- |
IntronicSNV |
- |
17/17 |
3 |
21-27254140-A-C |
c.2212-58T>G |
- |
IntronicSNV |
- |
17/17 |
2 |
21-27254194-C-T |
c.2212-112G>A |
- |
IntronicSNV |
- |
17/17 |
8 |
21-27254218-C-G |
c.2212-136G>C |
- |
IntronicSNV |
- |
17/17 |
1 |
21-27254218-C-T |
c.2212-136G>A |
- |
IntronicSNV |
- |
17/17 |
1 |
21-27254279-C-G |
c.2212-197G>C |
- |
IntronicSNV |
- |
17/17 |
6 |
21-27254320-C-A |
c.2212-238G>T |
- |
IntronicSNV |
- |
17/17 |
3 |
21-27254320-C-T |
c.2212-238G>A |
- |
IntronicSNV |
- |
17/17 |
3 |
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 |
21-27258145-C-T |
c.2212-4063G>A |
- |
IntronicSNV |
- |
17/17 |
1 |
21-27260014-C-T |
c.2211+4020G>A |
- |
IntronicSNV |
- |
17/17 |
1 |
21-27260278-A-T |
c.2211+3756T>A |
- |
IntronicSNV |
- |
17/17 |
1 |
21-27260278-GA-G |
c.2211+3756del |
- |
IntronicDeletion |
- |
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 |
21-27263925-C-G |
c.2211+109G>C |
- |
IntronicSNV |
- |
17/17 |
1 |
21-27263925-C-T |
c.2211+109G>A |
- |
IntronicSNV |
- |
17/17 |
1 |
21-27263949-C-A |
c.2211+85G>T |
- |
IntronicSNV |
- |
17/17 |
1 |
21-27263971-G-A |
c.2211+63C>T |
- |
IntronicSNV |
- |
17/17 |
1 |
21-27264032-A-C |
c.2211+2T>G |
- |
IntronicSNV |
- |
17/17 |
1 |
21-27264044-C-T |
c.2201G>A |
p.G734D |
Missense |
17/18 |
- |
2 |
21-27264045-C-T |
c.2200G>A |
p.G734S |
Missense |
17/18 |
- |
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-GA-CG |
c.2188_2189delinsCG |
p.S730R |
Missense |
17/18 |
- |
1 |
21-27264056-G-C |
c.2189C>G |
p.S730C |
Missense |
17/18 |
- |
2 |
21-27264056-G-T |
c.2189C>A |
p.S730Y |
Missense |
17/18 |
- |
1 |
21-27264058-TGT-ACA |
c.2185_2187inv |
p.T729C |
Missense |
17/18 |
- |
2 |
21-27264059-G-A |
c.2186C>T |
p.T729I |
Missense |
17/18 |
- |
1 |
21-27264060-T-C |
c.2185A>G |
p.T729A |
Missense |
17/18 |
- |
2 |
21-27264065-T-A |
c.2180A>T |
p.Q727L |
Missense |
17/18 |
- |
4 |
21-27264067-T-C |
c.2178A>G |
p.K726= |
Synonymous |
17/18 |
- |
1 |
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 |
- |
22 |
21-27264073-C-G |
c.2172G>C |
p.K724N |
Missense |
17/18 |
- |
24 |
21-27264074-T-A |
c.2171A>T |
p.K724M |
Missense |
17/18 |
- |
4 |
21-27264074-T-C |
c.2171A>G |
p.K724R |
Missense |
17/18 |
- |
1 |
21-27264076-C-A |
c.2169G>T |
p.L723= |
Synonymous |
17/18 |
- |
2 |
21-27264076-CAG-ACA |
c.2167_2169delinsTGT |
p.L723C |
Missense |
17/18 |
- |
1 |
21-27264076-CAG-GTC |
c.2167_2169delinsGAC |
p.L723D |
Missense |
17/18 |
- |
1 |
21-27264076-C-G |
c.2169G>C |
p.L723= |
Synonymous |
17/18 |
- |
1 |
21-27264076-C-T |
c.2169G>A |
p.L723= |
Synonymous |
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 |
- |
34 |
21-27264077-AG-GC |
c.2167_2168delinsGC |
p.L723A |
Missense |
17/18 |
- |
1 |
21-27264077-AG-TC |
c.2167_2168delinsGA |
p.L723E |
Missense |
17/18 |
- |
1 |
21-27264077-AG-TT |
c.2167_2168delinsAA |
p.L723K |
Missense |
17/18 |
- |
1 |
21-27264078-G-A |
c.2167C>T |
p.L723= |
Synonymous |
17/18 |
- |
3 |
21-27264078-G-T |
c.2167C>A |
p.L723M |
Missense |
17/18 |
- |
1 |
21-27264079-CAT-GTC |
c.2164_2166delinsGAC |
p.M722D |
Missense |
17/18 |
- |
1 |
21-27264080-A-T |
c.2165T>A |
p.M722K |
Missense |
17/18 |
- |
11 |
21-27264080-AT-GG |
c.2164_2165delinsCC |
p.M722P |
Missense |
17/18 |
- |
1 |
21-27264080-AT-TC |
c.2164_2165delinsGA |
p.M722E |
Missense |
17/18 |
- |
1 |
21-27264083-A-C |
c.2162T>G |
p.V721G |
Missense |
17/18 |
- |
1 |
21-27264083-AC-GA |
c.2161_2162delinsTC |
p.V721S |
Missense |
17/18 |
- |
1 |
21-27264083-AC-GG |
c.2161_2162delinsCC |
p.V721P |
Missense |
17/18 |
- |
1 |
21-27264083-AC-GT |
c.2161_2162inv |
p.V721T |
Missense |
17/18 |
- |
1 |
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 |
- |
8 |
21-27264086-A-G |
c.2159T>C |
p.L720S |
Missense |
17/18 |
- |
6 |
21-27264087-A-G |
c.2158T>C |
p.L720= |
Synonymous |
17/18 |
- |
1 |
21-27264088-GG-CA |
c.2156_2157delinsTG |
p.T719M |
Missense |
17/18 |
- |
1 |
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 |
- |
12 |
21-27264093-T-A |
c.2152A>T |
p.I718F |
Missense |
17/18 |
- |
1 |
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 |
- |
2 |
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 |
- |
48 |
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 |
- |
796 |
21-27264096-C-G |
c.2149G>C |
p.V717L |
Missense |
17/18 |
- |
95 |
21-27264096-C-T |
c.2149G>A |
p.V717I |
Missense |
17/18 |
- |
881 |
21-27264097-G-A |
c.2148C>T |
p.I716= |
Synonymous |
17/18 |
- |
7 |
21-27264097-G-C |
c.2148C>G |
p.I716M |
Missense |
17/18 |
- |
6 |
21-27264097-G-T |
c.2148C>A |
p.I716= |
Synonymous |
17/18 |
- |
3 |
21-27264098-A-G |
c.2147T>C |
p.I716T |
Missense |
17/18 |
- |
20 |
21-27264098-AT-CA |
c.2146_2147delinsTG |
p.I716C |
Missense |
17/18 |
- |
1 |
21-27264099-T-A |
c.2146A>T |
p.I716F |
Missense |
17/18 |
- |
100 |
21-27264099-T-C |
c.2146A>G |
p.I716V |
Missense |
17/18 |
- |
444 |
21-27264100-CAC-AAA |
c.2143_2145delinsTTT |
p.V715F |
Missense |
17/18 |
- |
10 |
21-27264100-CAC-GAT |
c.2143_2145delinsATC |
p.V715I |
Missense |
17/18 |
- |
2 |
21-27264101-A-C |
c.2144T>G |
p.V715G |
Missense |
17/18 |
- |
1 |
21-27264101-A-G |
c.2144T>C |
p.V715A |
Missense |
17/18 |
- |
22 |
21-27264102-ACTGTCGCT-A |
c.2136_2143del |
p.A713Dfs*24 |
Frameshift |
17/18 |
- |
1 |
21-27264102-C-T |
c.2143G>A |
p.V715M |
Missense |
17/18 |
- |
44 |
21-27264103-T-G |
c.2142A>C |
p.T714= |
Synonymous |
17/18 |
- |
1 |
21-27264104-G-A |
c.2141C>T |
p.T714I |
Missense |
17/18 |
- |
63 |
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 |
- |
29 |
21-27264106-C-A |
c.2139G>T |
p.A713= |
Synonymous |
17/18 |
- |
1 |
21-27264106-C-G |
c.2139G>C |
p.A713= |
Synonymous |
17/18 |
- |
1 |
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 |
21-27264106-C-T |
c.2139G>A |
p.A713= |
Synonymous |
17/18 |
- |
3 |
21-27264107-G-A |
c.2138C>T |
p.A713V |
Missense |
17/18 |
- |
14 |
21-27264107-G-T |
c.2138C>A |
p.A713E |
Missense |
17/18 |
- |
1 |
21-27264108-C-T |
c.2137G>A |
p.A713T |
Missense |
17/18 |
- |
59 |
21-27264112-G-T |
c.2133C>A |
p.V711= |
Synonymous |
17/18 |
- |
3 |
21-27264113-A-T |
c.2132T>A |
p.V711D |
Missense |
17/18 |
- |
2 |
21-27264114-C-A |
c.2131G>T |
p.V711F |
Missense |
17/18 |
- |
2 |
21-27264114-C-T |
c.2131G>A |
p.V711I |
Missense |
17/18 |
- |
1 |
21-27264116-A-C |
c.2129T>G |
p.V710G |
Missense |
17/18 |
- |
6 |
21-27264117-C-T |
c.2128G>A |
p.V710I |
Missense |
17/18 |
- |
1 |
21-27264118-A-C |
c.2127T>G |
p.G709= |
Synonymous |
17/18 |
- |
1 |
21-27264118-AC-CT |
c.2126_2127delinsAG |
p.G709E |
Missense |
17/18 |
- |
1 |
21-27264118-A-G |
c.2127T>C |
p.G709= |
Synonymous |
17/18 |
- |
4 |
21-27264118-A-T |
c.2127T>A |
p.G709= |
Synonymous |
17/18 |
- |
1 |
21-27264119-C-A |
c.2126G>T |
p.G709V |
Missense |
17/18 |
- |
2 |
21-27264119-CC-AA |
c.2125_2126delinsTT |
p.G709F |
Missense |
17/18 |
- |
1 |
21-27264119-C-G |
c.2126G>C |
p.G709A |
Missense |
17/18 |
- |
2 |
21-27264119-C-T |
c.2126G>A |
p.G709D |
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 |
- |
13 |
21-27264121-G-A |
c.2124C>T |
p.G708= |
Synonymous |
17/18 |
- |
14 |
21-27264121-G-C |
c.2124C>G |
p.G708= |
Synonymous |
17/18 |
- |
8 |
21-27264121-G-T |
c.2124C>A |
p.G708= |
Synonymous |
17/18 |
- |
9 |
21-27264122-CC-AG |
c.2122_2123delinsCT |
p.G708L |
Missense |
17/18 |
- |
1 |
21-27264122-C-T |
c.2123G>A |
p.G708D |
Missense |
17/18 |
- |
1 |
21-27264123-C-A |
c.2122G>T |
p.G708C |
Missense |
17/18 |
- |
1 |
21-27264124-C-A |
c.2121G>T |
p.V707= |
Synonymous |
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 |
21-27264124-C-G |
c.2121G>C |
p.V707= |
Synonymous |
17/18 |
- |
1 |
21-27264124-C-T |
c.2121G>A |
p.V707= |
Synonymous |
17/18 |
- |
1 |
21-27264130-G-A |
c.2115C>T |
p.L705= |
Synonymous |
17/18 |
- |
2 |
21-27264130-G-C |
c.2115C>G |
p.L705= |
Synonymous |
17/18 |
- |
1 |
21-27264130-G-T |
c.2115C>A |
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 |
- |
19 |
21-27264133-TCC-ACA |
c.2110_2112delinsTGT |
p.G704C |
Missense |
17/18 |
- |
2 |
21-27264134-CC-AG |
c.2110_2111delinsCT |
p.G704L |
Missense |
17/18 |
- |
3 |
21-27264135-C-T |
c.2110G>A |
p.G704R |
Missense |
17/18 |
- |
5 |
21-27264136-A-G |
c.2109T>C |
p.I703= |
Synonymous |
17/18 |
- |
1 |
21-27264137-A-G |
c.2108T>C |
p.I703T |
Missense |
17/18 |
- |
1 |
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 |
21-27264138-T-C |
c.2107A>G |
p.I703V |
Missense |
17/18 |
- |
1 |
21-27264139-G-A |
c.2106C>T |
p.I702= |
Synonymous |
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 |
21-27264141-T-C |
c.2104A>G |
p.I702V |
Missense |
17/18 |
- |
1 |
21-27264142-T-G |
c.2103A>C |
p.A701= |
Synonymous |
17/18 |
- |
1 |
21-27264142-TGC-AAA |
c.2101_2103delinsTTT |
p.A701F |
Missense |
17/18 |
- |
1 |
21-27264143-G-A |
c.2102C>T |
p.A701V |
Missense |
17/18 |
- |
3 |
21-27264145-ACC-CCA |
c.2098_2100delinsTGG |
p.G700W |
Missense |
17/18 |
- |
1 |
21-27264145-A-G |
c.2100T>C |
p.G700= |
Synonymous |
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 |
- |
2 |
21-27264149-T-C |
c.2096A>G |
p.K699R |
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 |
21-27264151-G-C |
c.2094C>G |
p.N698K |
Missense |
17/18 |
- |
3 |
21-27264153-T-C |
c.2092A>G |
p.N698D |
Missense |
17/18 |
- |
1 |
21-27264154-T-C |
c.2091A>G |
p.S697= |
Synonymous |
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 |
21-27264161-AC-TT |
c.2083_2084delinsAA |
p.V695K |
Missense |
17/18 |
- |
1 |
21-27264162-C-T |
c.2083G>A |
p.V695M |
Missense |
17/18 |
- |
3 |
21-27264165-C-T |
c.2080G>A |
p.D694N |
Missense |
17/18 |
- |
120 |
21-27264166-T-A |
c.2079A>T |
p.E693D |
Missense |
17/18 |
- |
17 |
21-27264166-T-G |
c.2079A>C |
p.E693D |
Missense |
17/18 |
- |
16 |
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 |
- |
21 |
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 |
- |
235 |
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 |
- |
3 |
21-27264168-C-G |
c.2077G>C |
p.E693Q |
Missense |
17/18 |
- |
222 |
21-27264168-C-T |
c.2077G>A |
p.E693K |
Missense |
17/18 |
- |
57 |
21-27264170-G-C |
c.2075C>G |
p.A692G |
Missense |
17/18 |
- |
66 |
21-27264170-G-T |
c.2075C>A |
p.A692E |
Missense |
17/18 |
- |
1 |
21-27264171-C-A |
c.2074G>T |
p.A692S |
Missense |
17/18 |
- |
3 |
21-27264173-AA-GC |
c.2071_2072delinsGC |
p.F691A |
Missense |
17/18 |
- |
2 |
21-27264175-G-T |
c.2070C>A |
p.F690L |
Missense |
17/18 |
- |
1 |
21-27264176-AA-GC |
c.2068_2069delinsGC |
p.F690A |
Missense |
17/18 |
- |
2 |
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 |
21-27264178-C-A |
c.2067G>T |
p.V689= |
Synonymous |
17/18 |
- |
1 |
21-27264178-C-G |
c.2067G>C |
p.V689= |
Synonymous |
17/18 |
- |
1 |
21-27264178-C-T |
c.2067G>A |
p.V689= |
Synonymous |
17/18 |
- |
1 |
21-27264179-A-G |
c.2066T>C |
p.V689A |
Missense |
17/18 |
- |
1 |
21-27264180-C-A |
c.2065G>T |
p.V689L |
Missense |
17/18 |
- |
1 |
21-27264180-C-T |
c.2065G>A |
p.V689M |
Missense |
17/18 |
- |
2 |
21-27264245-C-T |
c.2065-65G>A |
- |
IntronicSNV |
- |
16/17 |
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 |
21-27268537-T-G |
c.2064+1348A>C |
- |
IntronicSNV |
- |
16/17 |
1 |
21-27269838-T-C |
c.2064+47A>G |
- |
IntronicSNV |
- |
16/17 |
1 |
21-27269847-A-G |
c.2064+38T>C |
- |
IntronicSNV |
- |
16/17 |
1 |
21-27269864-G-A |
c.2064+21C>T |
- |
IntronicSNV |
- |
16/17 |
1 |
21-27269882-T-C |
c.2064+3A>G |
- |
IntronicSNV |
- |
16/17 |
1 |
21-27269886-A-G |
c.2063T>C |
p.L688S |
Missense |
16/18 |
- |
1 |
21-27269887-A-C |
c.2062T>G |
p.L688V |
Missense |
16/18 |
- |
1 |
21-27269887-A-G |
c.2062T>C |
p.L688= |
Synonymous |
16/18 |
- |
1 |
21-27269888-T-A |
c.2061A>T |
p.K687N |
Missense |
16/18 |
- |
17 |
21-27269888-T-G |
c.2061A>C |
p.K687N |
Missense |
16/18 |
- |
17 |
21-27269890-T-G |
c.2059A>C |
p.K687Q |
Missense |
16/18 |
- |
5 |
21-27269891-T-A |
c.2058A>T |
p.Q686H |
Missense |
16/18 |
- |
2 |
21-27269891-TTG-ACA |
c.2056_2058delinsTGT |
p.Q686C |
Missense |
16/18 |
- |
1 |
21-27269892-T-G |
c.2057A>C |
p.Q686P |
Missense |
16/18 |
- |
2 |
21-27269893-G-T |
c.2056C>A |
p.Q686K |
Missense |
16/18 |
- |
2 |
21-27269895-T-C |
c.2054A>G |
p.H685R |
Missense |
16/18 |
- |
3 |
21-27269897-A-T |
c.2052T>A |
p.H684Q |
Missense |
16/18 |
- |
1 |
21-27269898-T-C |
c.2051A>G |
p.H684R |
Missense |
16/18 |
- |
3 |
21-27269898-T-G |
c.2051A>C |
p.H684P |
Missense |
16/18 |
- |
1 |
21-27269900-A-C |
c.2049T>G |
p.V683= |
Synonymous |
16/18 |
- |
2 |
21-27269900-A-G |
c.2049T>C |
p.V683= |
Synonymous |
16/18 |
- |
2 |
21-27269900-A-T |
c.2049T>A |
p.V683= |
Synonymous |
16/18 |
- |
2 |
21-27269901-A-G |
c.2048T>C |
p.V683A |
Missense |
16/18 |
- |
1 |
21-27269902-C-T |
c.2047G>A |
p.V683I |
Missense |
16/18 |
- |
2 |
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 |
- |
34 |
21-27269905-C-CA |
c.2043dup |
p.E682* |
Nonsense |
16/18 |
- |
1 |
21-27269907-T-A |
c.2042A>T |
p.Y681F |
Missense |
16/18 |
- |
1 |
21-27269907-TA-GC |
c.2041_2042delinsGC |
p.Y681A |
Missense |
16/18 |
- |
1 |
21-27269910-C-T |
c.2039G>A |
p.G680E |
Missense |
16/18 |
- |
1 |
21-27269911-C-G |
c.2038G>C |
p.G680R |
Missense |
16/18 |
- |
1 |
21-27269911-C-T |
c.2038G>A |
p.G680R |
Missense |
16/18 |
- |
1 |
21-27269912-T-A |
c.2037A>T |
p.S679= |
Synonymous |
16/18 |
- |
3 |
21-27269912-T-C |
c.2037A>G |
p.S679= |
Synonymous |
16/18 |
- |
1 |
21-27269912-T-G |
c.2037A>C |
p.S679= |
Synonymous |
16/18 |
- |
1 |
21-27269913-G-A |
c.2036C>T |
p.S679L |
Missense |
16/18 |
- |
2 |
21-27269913-G-T |
c.2036C>A |
p.S679* |
Nonsense |
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 |
- |
39 |
21-27269917-C-T |
c.2032G>A |
p.D678N |
Missense |
16/18 |
- |
33 |
21-27269919-T-C |
c.2030A>G |
p.H677R |
Missense |
16/18 |
- |
9 |
21-27269917-CATGTCGGA-C |
c.2024_2031del |
p.F675* |
Frameshift |
16/18 |
- |
1 |
21-27269922-C-A |
c.2027G>T |
p.R676L |
Missense |
16/18 |
- |
1 |
21-27269922-CG-TT |
c.2026_2027delinsAA |
p.R676K |
Missense |
16/18 |
- |
1 |
21-27269923-G-A |
c.2026C>T |
p.R676* |
Nonsense |
16/18 |
- |
5 |
21-27269923-G-C |
c.2026C>G |
p.R676G |
Missense |
16/18 |
- |
2 |
21-27269924-G-C |
c.2025C>G |
p.F675L |
Missense |
16/18 |
- |
1 |
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-A |
c.2020G>T |
p.E674* |
Nonsense |
16/18 |
- |
3 |
21-27269929-C-G |
c.2020G>C |
p.E674Q |
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 |
- |
108 |
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 |
- |
265 |
21-27269935-C-T |
c.2014G>A |
p.D672N |
Missense |
16/18 |
- |
3 |
21-27269936-C-A |
c.2013G>T |
p.M671I |
Missense |
16/18 |
- |
1 |
21-27269936-CA-AAGGT |
c.2012_2013delinsACCTT |
p.M671delinsNL |
MultiAAMissense |
16/18 |
- |
1 |
21-27269936-CA-GT |
c.2012_2013delinsAC |
p.M671N |
Missense |
16/18 |
- |
5 |
21-27269936-CAT-AAC |
c.2011_2013delinsGTT |
p.M671V |
MultiAAMissense |
16/18 |
- |
3 |
21-27269936-C-G |
c.2013G>C |
p.M671I |
Missense |
16/18 |
- |
1 |
21-27269936-C-T |
c.2013G>A |
p.M671I |
Missense |
16/18 |
- |
1 |
21-27269938-T-A |
c.2011A>T |
p.M671L |
Missense |
16/18 |
- |
559 |
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 |
- |
559 |
21-27269939-C-A |
c.2010G>T |
p.K670N |
Missense |
16/18 |
- |
1197 |
21-27269939-C-G |
c.2010G>C |
p.K670N |
Missense |
16/18 |
- |
1197 |
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 |
- |
179 |
21-27269940-T-C |
c.2009A>G |
p.K670R |
Missense |
16/18 |
- |
4 |
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 |
- |
4 |
21-27269944-C-G |
c.2005G>C |
p.V669L |
Missense |
16/18 |
- |
5 |
21-27269944-C-T |
c.2005G>A |
p.V669M |
Missense |
16/18 |
- |
1 |
21-27269946-T-C |
c.2003A>G |
p.E668G |
Missense |
16/18 |
- |
1 |
21-27269947-C-T |
c.2002G>A |
p.E668K |
Missense |
16/18 |
- |
3 |
21-27269949-G-A |
c.2000C>T |
p.S667F |
Missense |
16/18 |
- |
2 |
21-27269950-A-G |
c.1999T>C |
p.S667P |
Missense |
16/18 |
- |
1 |
21-27269952-A-G |
c.1997T>C |
p.I666T |
Missense |
16/18 |
- |
3 |
21-27269953-T-A |
c.1996A>T |
p.I666F |
Missense |
16/18 |
- |
1 |
21-27269954-C-A |
c.1995G>T |
p.E665D |
Missense |
16/18 |
- |
6 |
21-27269954-C-G |
c.1995G>C |
p.E665D |
Missense |
16/18 |
- |
7 |
21-27269956-C-T |
c.1993G>A |
p.E665K |
Missense |
16/18 |
- |
1 |
21-27269953-TCTC-T |
c.1993_1995del |
p.E665del |
InFrameDeletion |
16/18 |
- |
1 |
21-27269958-T-A |
c.1991A>T |
p.E664V |
Missense |
16/18 |
- |
2 |
21-27269959-C-G |
c.1990G>C |
p.E664Q |
Missense |
16/18 |
- |
4 |
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 |
- |
3 |
21-27269961-G-A |
c.1988C>T |
p.T663M |
Missense |
16/18 |
- |
4 |
21-27269963-C-CTTACCAAAGCTCCTG |
c.1985_1986insCAGGAGCTTTGGTAA |
p.I661_K662insNRSFG |
InFrameInsertion |
16/18 |
- |
2 |
21-27269967-A-G |
c.1982T>C |
p.I661T |
Missense |
16/18 |
- |
1 |
21-27269970-T-C |
c.1979A>G |
p.N660S |
Missense |
16/18 |
- |
2 |
21-27269971-T-A |
c.1978A>T |
p.N660Y |
Missense |
16/18 |
- |
6 |
21-27269973-G-A |
c.1976C>T |
p.T659I |
Missense |
16/18 |
- |
1 |
21-27269973-G-T |
c.1976C>A |
p.T659K |
Missense |
16/18 |
- |
1 |
21-27269975-C-T |
c.1974G>A |
p.L658= |
Synonymous |
16/18 |
- |
2 |
21-27269977-A-G |
c.1972T>C |
p.L658= |
Synonymous |
16/18 |
- |
1 |
21-27269978-C-A |
c.1971G>T |
p.G657= |
Synonymous |
16/18 |
- |
1 |
21-27269978-C-G |
c.1971G>C |
p.G657= |
Synonymous |
16/18 |
- |
1 |
21-27269978-C-T |
c.1971G>A |
p.G657= |
Synonymous |
16/18 |
- |
2 |
21-27269980-C-T |
c.1969G>A |
p.G657R |
Missense |
16/18 |
- |
2 |
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 |
- |
2 |
21-27270116-C-G |
c.1964-131G>C |
- |
IntronicSNV |
- |
15/17 |
1 |
21-27270116-C-T |
c.1964-131G>A |
- |
IntronicSNV |
- |
15/17 |
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 |
21-27277228-C-T |
c.1963+108G>A |
- |
IntronicSNV |
- |
15/17 |
1 |
21-27277240-T-A |
c.1963+96A>T |
- |
IntronicSNV |
- |
15/17 |
1 |
21-27277268-A-C |
c.1963+68T>G |
- |
IntronicSNV |
- |
15/17 |
1 |
21-27277275-C-A |
c.1963+61G>T |
- |
IntronicSNV |
- |
15/17 |
1 |
21-27277278-C-T |
c.1963+58G>A |
- |
IntronicSNV |
- |
15/17 |
1 |
21-27277306-G-A |
c.1963+30C>T |
- |
IntronicSNV |
- |
15/17 |
1 |
21-27277336-C-CT |
c.1962dup |
p.G655Rfs*14 |
SpliceDonorInsertion |
15/18 |
- |
1 |
21-27277337-T-A |
c.1962A>T |
p.P654= |
Synonymous |
15/18 |
- |
2 |
21-27277337-T-C |
c.1962A>G |
p.P654= |
Synonymous |
15/18 |
- |
3 |
21-27277337-T-G |
c.1962A>C |
p.P654= |
Synonymous |
15/18 |
- |
1 |
21-27277339-G-A |
c.1960C>T |
p.P654S |
Missense |
15/18 |
- |
1 |
21-27277339-G-C |
c.1960C>G |
p.P654A |
Missense |
15/18 |
- |
1 |
21-27277340-T-C |
c.1959A>G |
p.R653= |
Synonymous |
15/18 |
- |
1 |
21-27277341-C-A |
c.1958G>T |
p.R653L |
Missense |
15/18 |
- |
1 |
21-27277341-C-T |
c.1958G>A |
p.R653Q |
Missense |
15/18 |
- |
1 |
21-27277342-G-A |
c.1957C>T |
p.R653* |
Nonsense |
15/18 |
- |
2 |
21-27277342-G-C |
c.1957C>G |
p.R653G |
Missense |
15/18 |
- |
1 |
21-27277342-G-T |
c.1957C>A |
p.R653= |
Synonymous |
15/18 |
- |
1 |
21-27277343-A-G |
c.1956T>C |
p.T652= |
Synonymous |
15/18 |
- |
1 |
21-27277344-G-A |
c.1955C>T |
p.T652I |
Missense |
15/18 |
- |
1 |
21-27277345-T-A |
c.1954A>T |
p.T652S |
Missense |
15/18 |
- |
1 |
21-27277345-T-C |
c.1954A>G |
p.T652A |
Missense |
15/18 |
- |
4 |
21-27277346-G-A |
c.1953C>T |
p.T651= |
Synonymous |
15/18 |
- |
1 |
21-27277348-T-C |
c.1951A>G |
p.T651A |
Missense |
15/18 |
- |
2 |
21-27277356-C-G |
c.1943G>C |
p.R648P |
Missense |
15/18 |
- |
1 |
21-27277356-C-T |
c.1943G>A |
p.R648Q |
Missense |
15/18 |
- |
3 |
21-27277357-G-A |
c.1942C>T |
p.R648* |
Nonsense |
15/18 |
- |
2 |
21-27277357-G-C |
c.1942C>G |
p.R648G |
Missense |
15/18 |
- |
2 |
21-27277357-G-T |
c.1942C>A |
p.R648= |
Synonymous |
15/18 |
- |
2 |
21-27277358-G-A |
c.1941C>T |
p.D647= |
Synonymous |
15/18 |
- |
2 |
21-27277358-G-T |
c.1941C>A |
p.D647E |
Missense |
15/18 |
- |
2 |
21-27277360-C-A |
c.1939G>T |
p.D647Y |
Missense |
15/18 |
- |
2 |
21-27277360-C-T |
c.1939G>A |
p.D647N |
Missense |
15/18 |
- |
2 |
21-27277361-G-A |
c.1938C>T |
p.A646= |
Synonymous |
15/18 |
- |
4 |
21-27277364-A-C |
c.1935T>G |
p.A645= |
Synonymous |
15/18 |
- |
1 |
21-27277364-A-G |
c.1935T>C |
p.A645= |
Synonymous |
15/18 |
- |
1 |
21-27277364-A-T |
c.1935T>A |
p.A645= |
Synonymous |
15/18 |
- |
1 |
21-27277368-G-A |
c.1931C>T |
p.P644L |
Missense |
15/18 |
- |
1 |
21-27277369-G-A |
c.1930C>T |
p.P644S |
Missense |
15/18 |
- |
1 |
21-27277371-C-T |
c.1928G>A |
p.R643H |
Missense |
15/18 |
- |
1 |
21-27277372-G-A |
c.1927C>T |
p.R643C |
Missense |
15/18 |
- |
3 |
21-27277373-G-A |
c.1926C>T |
p.A642= |
Synonymous |
15/18 |
- |
2 |
21-27277373-G-T |
c.1926C>A |
p.A642= |
Synonymous |
15/18 |
- |
1 |
21-27277374-G-A |
c.1925C>T |
p.A642V |
Missense |
15/18 |
- |
2 |
21-27277378-C-G |
c.1921G>C |
p.D641H |
Missense |
15/18 |
- |
2 |
21-27277379-A-G |
c.1920T>C |
p.V640= |
Synonymous |
15/18 |
- |
1 |
21-27277381-C-T |
c.1918G>A |
p.V640I |
Missense |
15/18 |
- |
1 |
21-27277383-G-A |
c.1916C>T |
p.P639L |
Missense |
15/18 |
- |
1 |
21-27277383-G-T |
c.1916C>A |
p.P639H |
Missense |
15/18 |
- |
1 |
21-27277387-C-G |
c.1912G>C |
p.E638Q |
Missense |
15/18 |
- |
2 |
21-27277387-C-T |
c.1912G>A |
p.E638K |
Missense |
15/18 |
- |
3 |
21-27277389-A-G |
c.1910T>C |
p.V637A |
Missense |
15/18 |
- |
1 |
21-27277442-T-G |
c.1910-53A>C |
- |
IntronicSNV |
- |
14/17 |
1 |
21-27277464-G-C |
c.1910-75C>G |
- |
IntronicSNV |
- |
14/17 |
1 |
21-27277549-A-T |
c.1910-160T>A |
- |
IntronicSNV |
- |
14/17 |
1 |
21-27277552-G-A |
c.1910-163C>T |
- |
IntronicSNV |
- |
14/17 |
1 |
21-27277848-G-A |
c.1910-459C>T |
- |
IntronicSNV |
- |
14/17 |
1 |
21-27277848-G-T |
c.1910-459C>A |
- |
IntronicSNV |
- |
14/17 |
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 |
3 |
21-27280038-C-T |
c.1910-2649G>A |
- |
IntronicSNV |
- |
14/17 |
3 |
21-27280653-A-C |
c.1910-3264T>G |
- |
IntronicSNV |
- |
14/17 |
1 |
21-27281177-A-G |
c.1909+2876T>C |
- |
IntronicSNV |
- |
14/17 |
1 |
21-27281186-G-A |
c.1909+2867C>T |
- |
IntronicSNV |
- |
14/17 |
1 |
21-27284044-G-A |
c.1909+9C>T |
- |
IntronicSNV |
- |
14/17 |
1 |
21-27284044-G-T |
c.1909+9C>A |
- |
IntronicSNV |
- |
14/17 |
1 |
21-27284048-C-T |
c.1909+5G>A |
- |
IntronicSNV |
- |
14/17 |
1 |
21-27284053-C-A |
c.1909G>T |
p.V637F |
Missense |
14/18 |
- |
1 |
21-27284053-C-T |
c.1909G>A |
p.V637I |
Missense |
14/18 |
- |
2 |
21-27284054-T-A |
c.1908A>T |
p.E636D |
Missense |
14/18 |
- |
1 |
21-27284056-C-G |
c.1906G>C |
p.E636Q |
Missense |
14/18 |
- |
1 |
21-27284056-C-T |
c.1906G>A |
p.E636K |
Missense |
14/18 |
- |
4 |
21-27284057-G-A |
c.1905C>T |
p.N635= |
Synonymous |
14/18 |
- |
2 |
21-27284060-T-C |
c.1902A>G |
p.E634= |
Synonymous |
14/18 |
- |
1 |
21-27284062-C-T |
c.1900G>A |
p.E634K |
Missense |
14/18 |
- |
1 |
21-27284063-T-C |
c.1899A>G |
p.T633= |
Synonymous |
14/18 |
- |
1 |
21-27284064-G-C |
c.1898C>G |
p.T633R |
Missense |
14/18 |
- |
1 |
21-27284065-T-A |
c.1897A>T |
p.T633S |
Missense |
14/18 |
- |
1 |
21-27284065-T-C |
c.1897A>G |
p.T633A |
Missense |
14/18 |
- |
1 |
21-27284069-G-T |
c.1893C>A |
p.A631= |
Synonymous |
14/18 |
- |
1 |
21-27284071-C-G |
c.1891G>C |
p.A631P |
Missense |
14/18 |
- |
1 |
21-27284072-T-C |
c.1890A>G |
p.P630= |
Synonymous |
14/18 |
- |
1 |
21-27284076-A-G |
c.1886T>C |
p.V629A |
Missense |
14/18 |
- |
1 |
21-27284076-ACAGAGTCAGCCC-A |
c.1874_1885del |
p.G625_S628del |
InFrameDeletion |
14/18 |
- |
3 |
21-27284079-G-A |
c.1883C>T |
p.S628F |
Missense |
14/18 |
- |
6 |
21-27284081-G-A |
c.1881C>T |
p.D627= |
Synonymous |
14/18 |
- |
1 |
21-27284082-T-G |
c.1880A>C |
p.D627A |
Missense |
14/18 |
- |
1 |
21-27284084-A-C |
c.1878T>G |
p.A626= |
Synonymous |
14/18 |
- |
2 |
21-27284084-A-G |
c.1878T>C |
p.A626= |
Synonymous |
14/18 |
- |
1 |
21-27284084-AG-CT |
c.1877_1878inv |
p.A626E |
Missense |
14/18 |
- |
1 |
21-27284084-A-T |
c.1878T>A |
p.A626= |
Synonymous |
14/18 |
- |
1 |
21-27284087-C-A |
c.1875G>T |
p.G625= |
Synonymous |
14/18 |
- |
1 |
21-27284087-CC-GT |
c.1874_1875delinsAC |
p.G625D |
Missense |
14/18 |
- |
2 |
21-27284087-C-G |
c.1875G>C |
p.G625= |
Synonymous |
14/18 |
- |
1 |
21-27284087-C-T |
c.1875G>A |
p.G625= |
Synonymous |
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 |
21-27284088-C-T |
c.1874G>A |
p.G625E |
Missense |
14/18 |
- |
2 |
21-27284089-C-A |
c.1873G>T |
p.G625W |
Missense |
14/18 |
- |
1 |
21-27284094-G-A |
c.1868C>T |
p.S623F |
Missense |
14/18 |
- |
1 |
21-27284094-GA-CG |
c.1867_1868delinsCG |
p.S623R |
Missense |
14/18 |
- |
2 |
21-27284094-G-T |
c.1868C>A |
p.S623Y |
Missense |
14/18 |
- |
1 |
21-27284098-G-A |
c.1864C>T |
p.H622Y |
Missense |
14/18 |
- |
2 |
21-27284099-C-A |
c.1863G>T |
p.W621C |
Missense |
14/18 |
- |
2 |
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 |
- |
10 |
21-27284104-G-A |
c.1858C>T |
p.P620S |
Missense |
14/18 |
- |
2 |
21-27284104-G-C |
c.1858C>G |
p.P620A |
Missense |
14/18 |
- |
5 |
21-27284108-G-A |
c.1854C>T |
p.L618= |
Synonymous |
14/18 |
- |
1 |
21-27284108-G-C |
c.1854C>G |
p.L618= |
Synonymous |
14/18 |
- |
1 |
21-27284108-G-T |
c.1854C>A |
p.L618= |
Synonymous |
14/18 |
- |
2 |
21-27284110-G-A |
c.1852C>T |
p.L618F |
Missense |
14/18 |
- |
1 |
21-27284113-C-T |
c.1849G>A |
p.D617N |
Missense |
14/18 |
- |
2 |
21-27284114-G-A |
c.1848C>T |
p.D616= |
Synonymous |
14/18 |
- |
2 |
21-27284116-C-T |
c.1846G>A |
p.D616N |
Missense |
14/18 |
- |
1 |
21-27284120-G-T |
c.1842C>A |
p.S614R |
Missense |
14/18 |
- |
1 |
21-27284122-T-C |
c.1840A>G |
p.S614G |
Missense |
14/18 |
- |
6 |
21-27284126-C-A |
c.1836G>T |
p.E612D |
Missense |
14/18 |
- |
1 |
21-27284126-C-G |
c.1836G>C |
p.E612D |
Missense |
14/18 |
- |
1 |
21-27284126-C-T |
c.1836G>A |
p.E612= |
Synonymous |
14/18 |
- |
1 |
21-27284128-C-G |
c.1834G>C |
p.E612Q |
Missense |
14/18 |
- |
1 |
21-27284128-C-T |
c.1834G>A |
p.E612K |
Missense |
14/18 |
- |
1 |
21-27284129-T-C |
c.1833A>G |
p.G611= |
Synonymous |
14/18 |
- |
2 |
21-27284130-C-G |
c.1832G>C |
p.G611A |
Missense |
14/18 |
- |
1 |
21-27284134-T-A |
c.1828A>T |
p.N610Y |
Missense |
14/18 |
- |
3 |
21-27284135-CAC-GAT |
c.1825_1827delinsATC |
p.V609I |
Missense |
14/18 |
- |
1 |
21-27284135-C-T |
c.1827G>A |
p.V609= |
Synonymous |
14/18 |
- |
1 |
21-27284136-A-T |
c.1826T>A |
p.V609E |
Missense |
14/18 |
- |
1 |
21-27284138-G-A |
c.1824C>T |
p.P608= |
Synonymous |
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 |
- |
11 |
21-27284153-G-A |
c.1809C>T |
p.T603= |
Synonymous |
14/18 |
- |
4 |
21-27284156-G-A |
c.1806C>T |
p.T602= |
Synonymous |
14/18 |
- |
2 |
21-27284158-T-C |
c.1804A>G |
p.T602A |
Missense |
14/18 |
- |
1 |
21-27284162-C-A |
c.1800G>T |
p.T600= |
Synonymous |
14/18 |
- |
1 |
21-27284162-C-G |
c.1800G>C |
p.T600= |
Synonymous |
14/18 |
- |
1 |
21-27284162-C-T |
c.1800G>A |
p.T600= |
Synonymous |
14/18 |
- |
1 |
21-27284163-G-A |
c.1799C>T |
p.T600M |
Missense |
14/18 |
- |
8 |
21-27284165-T-A |
c.1797A>T |
p.E599D |
Missense |
14/18 |
- |
1 |
21-27284165-T-G |
c.1797A>C |
p.E599D |
Missense |
14/18 |
- |
1 |
21-27284166-T-C |
c.1796A>G |
p.E599G |
Missense |
14/18 |
- |
1 |
21-27284167-C-G |
c.1795G>C |
p.E599Q |
Missense |
14/18 |
- |
1 |
21-27284167-C-T |
c.1795G>A |
p.E599K |
Missense |
14/18 |
- |
27 |
21-27284168-G-A |
c.1794C>T |
p.T598= |
Synonymous |
14/18 |
- |
1 |
21-27284172-A-C |
c.1790T>G |
p.L597W |
Missense |
14/18 |
- |
3 |
21-27284174-A-C |
c.1788T>G |
p.S596= |
Synonymous |
14/18 |
- |
2 |
21-27284174-A-G |
c.1788T>C |
p.S596= |
Synonymous |
14/18 |
- |
1 |
21-27284174-AG-TT |
c.1787_1788delinsAA |
p.S596* |
Nonsense |
14/18 |
- |
1 |
21-27284174-A-T |
c.1788T>A |
p.S596= |
Synonymous |
14/18 |
- |
1 |
21-27284175-G-A |
c.1787C>T |
p.S596F |
Missense |
14/18 |
- |
1 |
21-27284175-GA-TT |
c.1786_1787delinsAA |
p.S596N |
Missense |
14/18 |
- |
2 |
21-27284177-T-A |
c.1785A>T |
p.P595= |
Synonymous |
14/18 |
- |
1 |
21-27284180-C-A |
c.1782G>T |
p.M594I |
Missense |
14/18 |
- |
2 |
21-27284180-C-G |
c.1782G>C |
p.M594I |
Missense |
14/18 |
- |
1 |
21-27284180-C-T |
c.1782G>A |
p.M594I |
Missense |
14/18 |
- |
1 |
21-27284181-A-T |
c.1781T>A |
p.M594K |
Missense |
14/18 |
- |
1 |
21-27284182-T-C |
c.1780A>G |
p.M594V |
Missense |
14/18 |
- |
2 |
21-27284185-G-A |
c.1777C>T |
p.L593F |
Missense |
14/18 |
- |
1 |
21-27284187-G-A |
c.1775C>T |
p.A592V |
Missense |
14/18 |
- |
1 |
21-27284187-GC-CA |
c.1774_1775delinsTG |
p.A592C |
Missense |
14/18 |
- |
1 |
21-27284187-G-T |
c.1775C>A |
p.A592D |
Missense |
14/18 |
- |
1 |
21-27284191-C-T |
c.1771G>A |
p.D591N |
Missense |
14/18 |
- |
1 |
21-27284196-C-G |
c.1766G>C |
p.G589A |
Missense |
14/18 |
- |
1 |
21-27284197-C-G |
c.1765G>C |
p.G589R |
Missense |
14/18 |
- |
1 |
21-27284197-C-T |
c.1765G>A |
p.G589R |
Missense |
14/18 |
- |
2 |
21-27284201-A-G |
c.1761T>C |
p.S587= |
Synonymous |
14/18 |
- |
1 |
21-27284204-G-A |
c.1758C>T |
p.I586= |
Synonymous |
14/18 |
- |
1 |
21-27284205-A-G |
c.1757T>C |
p.I586T |
Missense |
14/18 |
- |
1 |
21-27284208-C-T |
c.1754G>A |
p.R585K |
Missense |
14/18 |
- |
1 |
21-27284211-G-C |
c.1751C>G |
p.P584R |
Missense |
14/18 |
- |
1 |
21-27284212-G-A |
c.1750C>T |
p.P584S |
Missense |
14/18 |
- |
3 |
21-27284214-T-C |
c.1748A>G |
p.E583G |
Missense |
14/18 |
- |
2 |
21-27284215-C-A |
c.1747G>T |
p.E583* |
Nonsense |
14/18 |
- |
1 |
21-27284215-TC-T |
c.1747del |
p.E583Nfs*15 |
Frameshift |
14/18 |
- |
1 |
21-27284220-A-G |
c.1742T>C |
p.I581T |
Missense |
14/18 |
- |
1 |
21-27284222-C-G |
c.1740G>C |
p.M580I |
Missense |
14/18 |
- |
1 |
21-27284223-CATGTT-C |
c.1735_1739del |
p.N579Dfs*2 |
Frameshift |
14/18 |
- |
1 |
21-27284224-T-C |
c.1738A>G |
p.M580V |
Missense |
14/18 |
- |
1 |
21-27284225-G-T |
c.1737C>A |
p.N579K |
Missense |
14/18 |
- |
2 |
21-27284230-C-A |
c.1732G>T |
p.A578S |
Missense |
14/18 |
- |
2 |
21-27284230-C-G |
c.1732G>C |
p.A578P |
Missense |
14/18 |
- |
1 |
21-27284230-C-T |
c.1732G>A |
p.A578T |
Missense |
14/18 |
- |
1 |
21-27284232-A-C |
c.1730T>G |
p.L577W |
Missense |
14/18 |
- |
1 |
21-27284234-G-A |
c.1728C>T |
p.V576= |
Synonymous |
14/18 |
- |
1 |
21-27284234-G-C |
c.1728C>G |
p.V576= |
Synonymous |
14/18 |
- |
1 |
21-27284234-G-T |
c.1728C>A |
p.V576= |
Synonymous |
14/18 |
- |
1 |
21-27284236-C-T |
c.1726G>A |
p.V576I |
Missense |
14/18 |
- |
3 |
21-27284239-C-A |
c.1723G>T |
p.D575Y |
Missense |
14/18 |
- |
1 |
21-27284239-C-T |
c.1723G>A |
p.D575N |
Missense |
14/18 |
- |
2 |
21-27284244-G-A |
c.1718C>T |
p.S573L |
Missense |
14/18 |
- |
1 |
21-27284244-G-C |
c.1718C>G |
p.S573* |
Nonsense |
14/18 |
- |
2 |
21-27284244-G-T |
c.1718C>A |
p.S573* |
Nonsense |
14/18 |
- |
2 |
21-27284248-A-T |
c.1714T>A |
p.Y572N |
Missense |
14/18 |
- |
1 |
21-27284249-G-C |
c.1713C>G |
p.N571K |
Missense |
14/18 |
- |
1 |
21-27284249-G-T |
c.1713C>A |
p.N571K |
Missense |
14/18 |
- |
1 |
21-27284250-T-G |
c.1712A>C |
p.N571T |
Missense |
14/18 |
- |
1 |
21-27284253-T-C |
c.1709A>G |
p.Q570R |
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 |
21-27284257-C-A |
c.1705G>T |
p.E569* |
Nonsense |
14/18 |
- |
2 |
21-27284261-C-A |
c.1701G>T |
p.Q567H |
Missense |
14/18 |
- |
2 |
21-27284261-C-G |
c.1701G>C |
p.Q567H |
Missense |
14/18 |
- |
2 |
21-27284262-T-C |
c.1700A>G |
p.Q567R |
Missense |
14/18 |
- |
2 |
21-27284266-G-T |
c.1696C>A |
p.L566I |
Missense |
14/18 |
- |
1 |
21-27284269-G-A |
c.1693C>T |
p.L565= |
Synonymous |
14/18 |
- |
1 |
21-27284272-C-G |
c.1690G>C |
p.E564Q |
Missense |
14/18 |
- |
7 |
21-27284272-C-T |
c.1690G>A |
p.E564K |
Missense |
14/18 |
- |
3 |
21-27284381-G-A |
c.1688-107C>T |
- |
IntronicSNV |
- |
13/17 |
1 |
21-27284393-G-A |
c.1688-119C>T |
- |
IntronicSNV |
- |
13/17 |
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 |
21-27297469-G-C |
c.1688-13195C>G |
- |
IntronicSNV |
- |
13/17 |
1 |
21-27298024-T-A |
c.1688-13750A>T |
- |
IntronicSNV |
- |
13/17 |
1 |
21-27298071-A-ACC |
c.1688-13799_1688-13798dup |
- |
IntronicInsertion |
- |
13/17 |
2 |
21-27298071-A-AC |
c.1688-13798dup |
- |
IntronicInsertion |
- |
13/17 |
2 |
21-27298769-A-G |
c.1688-14495T>C |
- |
IntronicSNV |
- |
13/17 |
2 |
21-27303673-G-A |
c.1688-19399C>T |
- |
IntronicSNV |
- |
13/17 |
1 |
21-27303673-G-T |
c.1688-19399C>A |
- |
IntronicSNV |
- |
13/17 |
1 |
21-27304252-C-T |
c.1688-19978G>A |
- |
IntronicSNV |
- |
13/17 |
1 |
21-27306721-C-T |
c.1687+20183G>A |
- |
IntronicSNV |
- |
13/17 |
1 |
21-27310253-AT-A |
c.1687+16650del |
- |
IntronicDeletion |
- |
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 |
21-27314826-G-C |
c.1687+12078C>G |
- |
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 |
21-27318366-T-C |
c.1687+8538A>G |
- |
IntronicSNV |
- |
13/17 |
1 |
21-27318371-C-T |
c.1687+8533G>A |
- |
IntronicSNV |
- |
13/17 |
1 |
21-27318418-G-C |
c.1687+8486C>G |
- |
IntronicSNV |
- |
13/17 |
2 |
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 |
21-27323124-G-C |
c.1687+3780C>G |
- |
IntronicSNV |
- |
13/17 |
1 |
21-27323618-G-A |
c.1687+3286C>T |
- |
IntronicSNV |
- |
13/17 |
1 |
21-27323704-A-C |
c.1687+3200T>G |
- |
IntronicSNV |
- |
13/17 |
2 |
21-27325288-G-A |
c.1687+1616C>T |
- |
IntronicSNV |
- |
13/17 |
1 |
21-27326641-C-T |
c.1687+263G>A |
- |
IntronicSNV |
- |
13/17 |
1 |
21-27326756-T-A |
c.1687+148A>T |
- |
IntronicSNV |
- |
13/17 |
3 |
21-27326756-T-G |
c.1687+148A>C |
- |
IntronicSNV |
- |
13/17 |
2 |
21-27326810-T-A |
c.1687+94A>T |
- |
IntronicSNV |
- |
13/17 |
1 |
21-27326859-G-A |
c.1687+45C>T |
- |
IntronicSNV |
- |
13/17 |
8 |
21-27326901-T-C |
c.1687+3A>G |
- |
IntronicSNV |
- |
13/17 |
1 |
21-27326904-C-G |
c.1687G>C |
p.D563H |
Missense |
13/18 |
- |
1 |
21-27326907-C-T |
c.1684G>A |
p.V562I |
Missense |
13/18 |
- |
5 |
21-27326911-A-T |
c.1680T>A |
p.D560E |
Missense |
13/18 |
- |
1 |
21-27326912-T-C |
c.1679A>G |
p.D560G |
Missense |
13/18 |
- |
1 |
21-27326915-T-C |
c.1676A>G |
p.Q559R |
Missense |
13/18 |
- |
1 |
21-27326920-C-A |
c.1671G>T |
p.E557D |
Missense |
13/18 |
- |
1 |
21-27326920-C-G |
c.1671G>C |
p.E557D |
Missense |
13/18 |
- |
1 |
21-27326922-C-T |
c.1669G>A |
p.E557K |
Missense |
13/18 |
- |
1 |
21-27326924-T-C |
c.1667A>G |
p.E556G |
Missense |
13/18 |
- |
1 |
21-27326925-C-T |
c.1666G>A |
p.E556K |
Missense |
13/18 |
- |
4 |
21-27326926-G-A |
c.1665C>T |
p.A555= |
Synonymous |
13/18 |
- |
1 |
21-27326926-G-C |
c.1665C>G |
p.A555= |
Synonymous |
13/18 |
- |
1 |
21-27326926-G-T |
c.1665C>A |
p.A555= |
Synonymous |
13/18 |
- |
1 |
21-27326928-C-T |
c.1663G>A |
p.A555T |
Missense |
13/18 |
- |
3 |
21-27326929-C-T |
c.1662G>A |
p.V554= |
Synonymous |
13/18 |
- |
1 |
21-27326931-C-G |
c.1660G>C |
p.V554L |
Missense |
13/18 |
- |
1 |
21-27326933-G-A |
c.1658C>T |
p.A553V |
Missense |
13/18 |
- |
1 |
21-27326933-G-C |
c.1658C>G |
p.A553G |
Missense |
13/18 |
- |
2 |
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 |
21-27326937-G-A |
c.1654C>T |
p.P552S |
Missense |
13/18 |
- |
1 |
21-27326937-G-C |
c.1654C>G |
p.P552A |
Missense |
13/18 |
- |
1 |
21-27326939-A-C |
c.1652T>G |
p.V551G |
Missense |
13/18 |
- |
1 |
21-27326940-C-T |
c.1651G>A |
p.V551M |
Missense |
13/18 |
- |
2 |
21-27326941-G-A |
c.1650C>T |
p.N550= |
Synonymous |
13/18 |
- |
3 |
21-27326942-TTG-T |
c.1647_1648del |
p.Y549* |
Frameshift |
13/18 |
- |
1 |
21-27326947-G-A |
c.1644C>T |
p.L548= |
Synonymous |
13/18 |
- |
1 |
21-27326952-G-A |
c.1639C>T |
p.L547= |
Synonymous |
13/18 |
- |
1 |
21-27326953-GGA-CTC |
c.1636_1638delinsGAG |
p.S546E |
Missense |
13/18 |
- |
1 |
21-27326955-A-C |
c.1636T>G |
p.S546A |
Missense |
13/18 |
- |
2 |
21-27326955-A-T |
c.1636T>A |
p.S546T |
Missense |
13/18 |
- |
1 |
21-27326958-G-C |
c.1633C>G |
p.L545V |
Missense |
13/18 |
- |
1 |
21-27326960-G-A |
c.1631C>T |
p.S544F |
Missense |
13/18 |
- |
1 |
21-27326967-T-C |
c.1624A>G |
p.N542D |
Missense |
13/18 |
- |
1 |
21-27326968-C-A |
c.1623G>T |
p.M541I |
Missense |
13/18 |
- |
2 |
21-27326968-C-G |
c.1623G>C |
p.M541I |
Missense |
13/18 |
- |
1 |
21-27326968-C-T |
c.1623G>A |
p.M541I |
Missense |
13/18 |
- |
5 |
21-27326969-A-C |
c.1622T>G |
p.M541R |
Missense |
13/18 |
- |
1 |
21-27326969-A-T |
c.1622T>A |
p.M541K |
Missense |
13/18 |
- |
1 |
21-27326971-GC-TT |
c.1619_1620delinsAA |
p.R540Q |
Missense |
13/18 |
- |
1 |
21-27326972-C-T |
c.1619G>A |
p.R540H |
Missense |
13/18 |
- |
2 |
21-27326973-G-A |
c.1618C>T |
p.R540C |
Missense |
13/18 |
- |
2 |
21-27326974-C-A |
c.1617G>T |
p.E539D |
Missense |
13/18 |
- |
1 |
21-27326976-C-A |
c.1615G>T |
p.E539* |
Nonsense |
13/18 |
- |
1 |
21-27326976-C-G |
c.1615G>C |
p.E539Q |
Missense |
13/18 |
- |
1 |
21-27326976-C-T |
c.1615G>A |
p.E539K |
Missense |
13/18 |
- |
1 |
21-27326977-A-G |
c.1614T>C |
p.Y538= |
Synonymous |
13/18 |
- |
3 |
21-27326978-T-A |
c.1613A>T |
p.Y538F |
Missense |
13/18 |
- |
1 |
21-27326979-A-G |
c.1612T>C |
p.Y538H |
Missense |
13/18 |
- |
10 |
21-27326987-C-G |
c.1604G>C |
p.R535P |
Missense |
13/18 |
- |
1 |
21-27326987-C-T |
c.1604G>A |
p.R535H |
Missense |
13/18 |
- |
2 |
21-27326988-G-A |
c.1603C>T |
p.R535C |
Missense |
13/18 |
- |
4 |
21-27326994-G-A |
c.1597C>T |
p.H533Y |
Missense |
13/18 |
- |
1 |
21-27326996-G-A |
c.1595C>T |
p.T532I |
Missense |
13/18 |
- |
2 |
21-27326996-G-C |
c.1595C>G |
p.T532R |
Missense |
13/18 |
- |
1 |
21-27326998-C-T |
c.1593G>A |
p.M531I |
Missense |
13/18 |
- |
1 |
21-27327000-T-C |
c.1591A>G |
p.M531V |
Missense |
13/18 |
- |
1 |
21-27327001-A-C |
c.1590T>G |
p.V530= |
Synonymous |
13/18 |
- |
1 |
21-27327001-A-G |
c.1590T>C |
p.V530= |
Synonymous |
13/18 |
- |
1 |
21-27327001-A-T |
c.1590T>A |
p.V530= |
Synonymous |
13/18 |
- |
1 |
21-27327002-A-G |
c.1589T>C |
p.V530A |
Missense |
13/18 |
- |
1 |
21-27327003-C-T |
c.1588G>A |
p.V530I |
Missense |
13/18 |
- |
1 |
21-27327100-G-A |
c.1588-97C>T |
- |
IntronicSNV |
- |
12/17 |
4 |
21-27327100-G-C |
c.1588-97C>G |
- |
IntronicSNV |
- |
12/17 |
4 |
21-27327100-G-T |
c.1588-97C>A |
- |
IntronicSNV |
- |
12/17 |
4 |
21-27327862-G-C |
c.1587+79C>G |
- |
IntronicSNV |
- |
12/17 |
6 |
21-27327871-T-G |
c.1587+70A>C |
- |
IntronicSNV |
- |
12/17 |
1 |
21-27327915-A-C |
c.1587+26T>G |
- |
IntronicSNV |
- |
12/17 |
2 |
21-27327918-A-G |
c.1587+23T>C |
- |
IntronicSNV |
- |
12/17 |
2 |
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 |
- |
6 |
21-27327949-G-A |
c.1579C>T |
p.R527W |
Missense |
12/18 |
- |
1 |
21-27327950-G-A |
c.1578C>T |
p.I526= |
Synonymous |
12/18 |
- |
1 |
21-27327955-G-C |
c.1573C>G |
p.Q525E |
Missense |
12/18 |
- |
1 |
21-27327957-G-A |
c.1571C>T |
p.A524V |
Missense |
12/18 |
- |
1 |
21-27327958-C-A |
c.1570G>T |
p.A524S |
Missense |
12/18 |
- |
2 |
21-27327958-C-T |
c.1570G>A |
p.A524T |
Missense |
12/18 |
- |
1 |
21-27327959-G-A |
c.1569C>T |
p.A523= |
Synonymous |
12/18 |
- |
1 |
21-27327959-G-C |
c.1569C>G |
p.A523= |
Synonymous |
12/18 |
- |
1 |
21-27327959-G-T |
c.1569C>A |
p.A523= |
Synonymous |
12/18 |
- |
1 |
21-27327967-T-C |
c.1561A>G |
p.K521E |
Missense |
12/18 |
- |
1 |
21-27327969-G-T |
c.1559C>A |
p.P520H |
Missense |
12/18 |
- |
1 |
21-27327970-G-A |
c.1558C>T |
p.P520S |
Missense |
12/18 |
- |
2 |
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 |
- |
4 |
21-27327975-A-G |
c.1553T>C |
p.V518A |
Missense |
12/18 |
- |
1 |
21-27327977-C-A |
c.1551G>T |
p.M517I |
Missense |
12/18 |
- |
3 |
21-27327977-C-G |
c.1551G>C |
p.M517I |
Missense |
12/18 |
- |
3 |
21-27327977-C-T |
c.1551G>A |
p.M517I |
Missense |
12/18 |
- |
3 |
21-27327979-T-G |
c.1549A>C |
p.M517L |
Missense |
12/18 |
- |
1 |
21-27327981-C-A |
c.1547G>T |
p.R516L |
Missense |
12/18 |
- |
1 |
21-27327981-C-T |
c.1547G>A |
p.R516H |
Missense |
12/18 |
- |
1 |
21-27327982-G-A |
c.1546C>T |
p.R516C |
Missense |
12/18 |
- |
7 |
21-27327983-C-T |
c.1545G>A |
p.V515= |
Synonymous |
12/18 |
- |
1 |
21-27327985-C-A |
c.1543G>T |
p.V515L |
Missense |
12/18 |
- |
1 |
21-27327985-C-G |
c.1543G>C |
p.V515L |
Missense |
12/18 |
- |
1 |
21-27327985-C-T |
c.1543G>A |
p.V515M |
Missense |
12/18 |
- |
1 |
21-27327987-T-C |
c.1541A>G |
p.H514R |
Missense |
12/18 |
- |
1 |
21-27327988-G-A |
c.1540C>T |
p.H514Y |
Missense |
12/18 |
- |
1 |
21-27327991-C-T |
c.1537G>A |
p.E513K |
Missense |
12/18 |
- |
3 |
21-27327992-G-A |
c.1536C>T |
p.F512= |
Synonymous |
12/18 |
- |
8 |
21-27327997-G-A |
c.1531C>T |
p.H511Y |
Missense |
12/18 |
- |
1 |
21-27327998-C-A |
c.1530G>T |
p.K510N |
Missense |
12/18 |
- |
3 |
21-27327998-C-G |
c.1530G>C |
p.K510N |
Missense |
12/18 |
- |
7 |
21-27327999-T-C |
c.1529A>G |
p.K510R |
Missense |
12/18 |
- |
1 |
21-27328001-T-A |
c.1527A>T |
p.L509= |
Synonymous |
12/18 |
- |
1 |
21-27328001-T-C |
c.1527A>G |
p.L509= |
Synonymous |
12/18 |
- |
1 |
21-27328001-T-G |
c.1527A>C |
p.L509= |
Synonymous |
12/18 |
- |
1 |
21-27328003-G-A |
c.1525C>T |
p.L509= |
Synonymous |
12/18 |
- |
1 |
21-27328004-G-A |
c.1524C>T |
p.T508= |
Synonymous |
12/18 |
- |
2 |
21-27328004-G-C |
c.1524C>G |
p.T508= |
Synonymous |
12/18 |
- |
3 |
21-27328004-GG-CA |
c.1523_1524delinsTG |
p.T508M |
Missense |
12/18 |
- |
1 |
21-27328004-G-T |
c.1524C>A |
p.T508= |
Synonymous |
12/18 |
- |
2 |
21-27328006-T-C |
c.1522A>G |
p.T508A |
Missense |
12/18 |
- |
2 |
21-27328008-T-A |
c.1520A>T |
p.H507L |
Missense |
12/18 |
- |
1 |
21-27328009-G-A |
c.1519C>T |
p.H507Y |
Missense |
12/18 |
- |
1 |
21-27328012-G-A |
c.1516C>T |
p.Q506* |
Nonsense |
12/18 |
- |
1 |
21-27328013-TCT-ACA |
c.1513_1515delinsTGT |
p.R505C |
Missense |
12/18 |
- |
1 |
21-27328013-TCT-ATG |
c.1513_1515delinsCAT |
p.R505H |
Missense |
12/18 |
- |
1 |
21-27328014-C-A |
c.1514G>T |
p.R505I |
Missense |
12/18 |
- |
1 |
21-27328014-C-CGTTT |
c.1513_1514insAAAC |
p.R505Kfs*36 |
Frameshift |
12/18 |
- |
1 |
21-27328016-G-A |
c.1512C>T |
p.D504= |
Synonymous |
12/18 |
- |
1 |
21-27328016-G-C |
c.1512C>G |
p.D504E |
Missense |
12/18 |
- |
2 |
21-27328016-G-T |
c.1512C>A |
p.D504E |
Missense |
12/18 |
- |
1 |
21-27328018-C-T |
c.1510G>A |
p.D504N |
Missense |
12/18 |
- |
1 |
21-27328020-T-C |
c.1508A>G |
p.K503R |
Missense |
12/18 |
- |
1 |
21-27328024-G-A |
c.1504C>T |
p.Q502* |
Nonsense |
12/18 |
- |
2 |
21-27328024-G-C |
c.1504C>G |
p.Q502E |
Missense |
12/18 |
- |
1 |
21-27328025-T-C |
c.1503A>G |
p.E501= |
Synonymous |
12/18 |
- |
1 |
21-27328025-TTC-ACA |
c.1501_1503delinsTGT |
p.E501C |
Missense |
12/18 |
- |
1 |
21-27328027-C-T |
c.1501G>A |
p.E501K |
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 |
21-27328029-G-C |
c.1499C>G |
p.A500G |
Missense |
12/18 |
- |
1 |
21-27328030-C-T |
c.1498G>A |
p.A500T |
Missense |
12/18 |
- |
8 |
21-27328032-C-G |
c.1496G>C |
p.R499P |
Missense |
12/18 |
- |
1 |
21-27328032-C-T |
c.1496G>A |
p.R499H |
Missense |
12/18 |
- |
3 |
21-27328033-G-A |
c.1495C>T |
p.R499C |
Missense |
12/18 |
- |
3 |
21-27328034-G-A |
c.1494C>T |
p.V498= |
Synonymous |
12/18 |
- |
1 |
21-27328034-G-C |
c.1494C>G |
p.V498= |
Synonymous |
12/18 |
- |
1 |
21-27328034-G-T |
c.1494C>A |
p.V498= |
Synonymous |
12/18 |
- |
1 |
21-27328036-C-A |
c.1492G>T |
p.V498F |
Missense |
12/18 |
- |
1 |
21-27328036-C-T |
c.1492G>A |
p.V498I |
Missense |
12/18 |
- |
3 |
21-27328037-A-T |
c.1491T>A |
p.Y497* |
Nonsense |
12/18 |
- |
1 |
21-27328042-T-C |
c.1486A>G |
p.K496E |
Missense |
12/18 |
- |
1 |
21-27328042-T-G |
c.1486A>C |
p.K496Q |
Missense |
12/18 |
- |
10 |
21-27328043-CT-C |
c.1484del |
p.K495Rfs*15 |
Frameshift |
12/18 |
- |
1 |
21-27328049-C-A |
c.1479G>T |
p.M493I |
Missense |
12/18 |
- |
2 |
21-27328049-C-G |
c.1479G>C |
p.M493I |
Missense |
12/18 |
- |
1 |
21-27328049-C-T |
c.1479G>A |
p.M493I |
Missense |
12/18 |
- |
1 |
21-27328053-T-C |
c.1475A>G |
p.N492S |
Missense |
12/18 |
- |
5 |
21-27328055-G-C |
c.1473C>G |
p.F491L |
Missense |
12/18 |
- |
1 |
21-27328055-G-T |
c.1473C>A |
p.F491L |
Missense |
12/18 |
- |
1 |
21-27328057-A-G |
c.1471T>C |
p.F491L |
Missense |
12/18 |
- |
1 |
21-27328060-C-T |
c.1468G>A |
p.V490M |
Missense |
12/18 |
- |
3 |
21-27328061-G-A |
c.1467C>T |
p.H489= |
Synonymous |
12/18 |
- |
1 |
21-27328061-G-T |
c.1467C>A |
p.H489Q |
Missense |
12/18 |
- |
1 |
21-27328062-TG-GC |
c.1465_1466delinsGC |
p.H489A |
Missense |
12/18 |
- |
1 |
21-27328064-ACG-CCA |
c.1462_1464delinsTGG |
p.R488W |
Missense |
12/18 |
- |
1 |
21-27328065-C-T |
c.1463G>A |
p.R488H |
Missense |
12/18 |
- |
1 |
21-27328066-G-A |
c.1462C>T |
p.R488C |
Missense |
12/18 |
- |
2 |
21-27328068-G-A |
c.1460C>T |
p.P487L |
Missense |
12/18 |
- |
2 |
21-27328133-G-A |
c.1459-64C>T |
- |
IntronicSNV |
- |
11/17 |
1 |
21-27328175-T-C |
c.1459-106A>G |
- |
IntronicSNV |
- |
11/17 |
8 |
21-27328235-T-C |
c.1459-166A>G |
- |
IntronicSNV |
- |
11/17 |
1 |
21-27328245-C-G |
c.1459-176G>C |
- |
IntronicSNV |
- |
11/17 |
1 |
21-27328245-C-T |
c.1459-176G>A |
- |
IntronicSNV |
- |
11/17 |
1 |
21-27328391-A-T |
c.1459-322T>A |
- |
IntronicSNV |
- |
11/17 |
1 |
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 |
21-27331969-C-T |
c.1459-3900G>A |
- |
IntronicSNV |
- |
11/17 |
1 |
21-27332646-A-C |
c.1459-4577T>G |
- |
IntronicSNV |
- |
11/17 |
1 |
21-27332646-A-G |
c.1459-4577T>C |
- |
IntronicSNV |
- |
11/17 |
1 |
21-27332679-T-A |
c.1459-4610A>T |
- |
IntronicSNV |
- |
11/17 |
1 |
21-27332679-T-G |
c.1459-4610A>C |
- |
IntronicSNV |
- |
11/17 |
1 |
21-27332690-T-G |
c.1459-4621A>C |
- |
IntronicSNV |
- |
11/17 |
1 |
21-27334737-A-G |
c.1459-6668T>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 |
2 |
21-27337916-T-C |
c.1458+9467A>G |
- |
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 |
21-27340014-C-T |
c.1458+7369G>A |
- |
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 |
3 |
21-27344237-A-C |
c.1458+3146T>G |
- |
IntronicSNV |
- |
11/17 |
1 |
21-27347364-C-T |
c.1458+19G>A |
- |
IntronicSNV |
- |
11/17 |
1 |
21-27347381-A-G |
c.1458+2T>C |
- |
IntronicSNV |
- |
11/17 |
1 |
21-27347381-AC-A |
c.1458+1del |
- |
IntronicDeletion |
11/18 |
- |
2 |
21-27347384-C-T |
c.1457G>A |
p.R486Q |
Missense |
11/18 |
- |
2 |
21-27347385-G-A |
c.1456C>T |
p.R486W |
Missense |
11/18 |
- |
2 |
21-27347387-G-A |
c.1454C>T |
p.P485L |
Missense |
11/18 |
- |
1 |
21-27347389-A-C |
c.1452T>G |
p.P484= |
Synonymous |
11/18 |
- |
3 |
21-27347389-A-G |
c.1452T>C |
p.P484= |
Synonymous |
11/18 |
- |
3 |
21-27347389-A-T |
c.1452T>A |
p.P484= |
Synonymous |
11/18 |
- |
4 |
21-27347391-G-A |
c.1450C>T |
p.P484S |
Missense |
11/18 |
- |
2 |
21-27347394-C-G |
c.1447G>C |
p.V483L |
Missense |
11/18 |
- |
1 |
21-27347396-G-A |
c.1445C>T |
p.A482V |
Missense |
11/18 |
- |
1 |
21-27347406-C-A |
c.1435G>T |
p.A479S |
Missense |
11/18 |
- |
5 |
21-27347406-C-T |
c.1435G>A |
p.A479T |
Missense |
11/18 |
- |
1 |
21-27347407-G-A |
c.1434C>T |
p.T478= |
Synonymous |
11/18 |
- |
1 |
21-27347407-GG-CT |
c.1433_1434delinsAG |
p.T478K |
Missense |
11/18 |
- |
1 |
21-27347411-A-G |
c.1430T>C |
p.I477T |
Missense |
11/18 |
- |
1 |
21-27347416-G-A |
c.1425C>T |
p.N475= |
Synonymous |
11/18 |
- |
1 |
21-27347416-G-C |
c.1425C>G |
p.N475K |
Missense |
11/18 |
- |
1 |
21-27347416-G-T |
c.1425C>A |
p.N475K |
Missense |
11/18 |
- |
1 |
21-27347420-T-C |
c.1421A>G |
p.E474G |
Missense |
11/18 |
- |
2 |
21-27347423-AG-TC |
c.1417_1418delinsGA |
p.L473E |
Missense |
11/18 |
- |
1 |
21-27347430-G-T |
c.1411C>A |
p.L471M |
Missense |
11/18 |
- |
1 |
21-27347431-G-A |
c.1410C>T |
p.R470= |
Synonymous |
11/18 |
- |
2 |
21-27347431-G-C |
c.1410C>G |
p.R470= |
Synonymous |
11/18 |
- |
2 |
21-27347431-G-T |
c.1410C>A |
p.R470= |
Synonymous |
11/18 |
- |
3 |
21-27347432-C-A |
c.1409G>T |
p.R470L |
Missense |
11/18 |
- |
1 |
21-27347432-C-T |
c.1409G>A |
p.R470H |
Missense |
11/18 |
- |
2 |
21-27347433-G-A |
c.1408C>T |
p.R470C |
Missense |
11/18 |
- |
3 |
21-27347434-G-A |
c.1407C>T |
p.R469= |
Synonymous |
11/18 |
- |
1 |
21-27347435-C-T |
c.1406G>A |
p.R469H |
Missense |
11/18 |
- |
6 |
21-27347436-G-A |
c.1405C>T |
p.R469C |
Missense |
11/18 |
- |
2 |
21-27347437-GC-TT |
c.1403_1404delinsAA |
p.R468Q |
Missense |
11/18 |
- |
1 |
21-27347438-C-T |
c.1403G>A |
p.R468H |
Missense |
11/18 |
- |
5 |
21-27347439-G-A |
c.1402C>T |
p.R468C |
Missense |
11/18 |
- |
1 |
21-27347451-T-C |
c.1390A>G |
p.M464V |
Missense |
11/18 |
- |
1 |
21-27347452-G-A |
c.1389C>T |
p.A463= |
Synonymous |
11/18 |
- |
1 |
21-27347452-G-C |
c.1389C>G |
p.A463= |
Synonymous |
11/18 |
- |
1 |
21-27347452-G-T |
c.1389C>A |
p.A463= |
Synonymous |
11/18 |
- |
1 |
21-27347458-C-A |
c.1383G>T |
p.V461= |
Synonymous |
11/18 |
- |
2 |
21-27347458-C-G |
c.1383G>C |
p.V461= |
Synonymous |
11/18 |
- |
1 |
21-27347458-C-T |
c.1383G>A |
p.V461= |
Synonymous |
11/18 |
- |
1 |
21-27347461-TCT-ACA |
c.1378_1380delinsTGT |
p.R460C |
Missense |
11/18 |
- |
1 |
21-27347461-TCT-ATG |
c.1378_1380delinsCAT |
p.R460H |
Missense |
11/18 |
- |
1 |
21-27347463-CTG-C |
c.1377_1378del |
p.R460Sfs*7 |
Frameshift |
11/18 |
- |
1 |
21-27347463-T-A |
c.1378A>T |
p.R460* |
Nonsense |
11/18 |
- |
1 |
21-27347465-G-A |
c.1376C>T |
p.A459V |
Missense |
11/18 |
- |
1 |
21-27347467-C-A |
c.1374G>T |
p.M458I |
Missense |
11/18 |
- |
1 |
21-27347477-T-C |
c.1364A>G |
p.E455G |
Missense |
11/18 |
- |
2 |
21-27347478-C-T |
c.1363G>A |
p.E455K |
Missense |
11/18 |
- |
1 |
21-27347479-CAC-GAT |
c.1360_1362delinsATC |
p.V454I |
Missense |
11/18 |
- |
1 |
21-27347479-C-T |
c.1362G>A |
p.V454= |
Synonymous |
11/18 |
- |
1 |
21-27347480-A-C |
c.1361T>G |
p.V454G |
Missense |
11/18 |
- |
1 |
21-27347481-C-G |
c.1360G>C |
p.V454L |
Missense |
11/18 |
- |
1 |
21-27347482-C-A |
c.1359G>T |
p.L453= |
Synonymous |
11/18 |
- |
1 |
21-27347485-C-A |
c.1356G>T |
p.Q452H |
Missense |
11/18 |
- |
1 |
21-27347485-C-G |
c.1356G>C |
p.Q452H |
Missense |
11/18 |
- |
1 |
21-27347487-G-C |
c.1354C>G |
p.Q452E |
Missense |
11/18 |
- |
1 |
21-27347487-GCTGT-G |
c.1350_1353del |
p.R450Sfs*44 |
Frameshift |
11/18 |
- |
1 |
21-27347491-T-C |
c.1350A>G |
p.R450= |
Synonymous |
11/18 |
- |
1 |
21-27347491-TCT-ATG |
c.1348_1350delinsCAT |
p.R450H |
Missense |
11/18 |
- |
1 |
21-27347493-T-G |
c.1348A>C |
p.R450= |
Synonymous |
11/18 |
- |
1 |
21-27347492-C-T |
c.1349G>A |
p.R450K |
Missense |
11/18 |
- |
4 |
21-27347496-C-T |
c.1345G>A |
p.E449K |
Missense |
11/18 |
- |
1 |
21-27347497-G-A |
c.1344C>T |
p.N448= |
Synonymous |
11/18 |
- |
1 |
21-27347497-G-C |
c.1344C>G |
p.N448K |
Missense |
11/18 |
- |
1 |
21-27347497-G-T |
c.1344C>A |
p.N448K |
Missense |
11/18 |
- |
1 |
21-27347502-C-A |
c.1339G>T |
p.A447S |
Missense |
11/18 |
- |
1 |
21-27347505-C-T |
c.1336G>A |
p.A446T |
Missense |
11/18 |
- |
1 |
21-27347507-T-G |
c.1334A>C |
p.E445A |
Missense |
11/18 |
- |
1 |
21-27347512-T-C |
c.1329A>G |
p.E443= |
Synonymous |
11/18 |
- |
1 |
21-27347514-C-T |
c.1327G>A |
p.E443K |
Missense |
11/18 |
- |
1 |
21-27347517-A-G |
c.1324T>C |
p.L442= |
Synonymous |
11/18 |
- |
1 |
21-27347518-A-C |
c.1323T>G |
p.S441= |
Synonymous |
11/18 |
- |
1 |
21-27347518-A-G |
c.1323T>C |
p.S441= |
Synonymous |
11/18 |
- |
2 |
21-27347518-A-T |
c.1323T>A |
p.S441= |
Synonymous |
11/18 |
- |
1 |
21-27347519-G-A |
c.1322C>T |
p.S441F |
Missense |
11/18 |
- |
1 |
21-27347519-G-T |
c.1322C>A |
p.S441Y |
Missense |
11/18 |
- |
2 |
21-27347520-A-G |
c.1321T>C |
p.S441P |
Missense |
11/18 |
- |
1 |
21-27347520-A-T |
c.1321T>A |
p.S441T |
Missense |
11/18 |
- |
2 |
21-27347523-C-G |
c.1318G>C |
p.E440Q |
Missense |
11/18 |
- |
1 |
21-27347524-C-A |
c.1317G>T |
p.V439= |
Synonymous |
11/18 |
- |
1 |
21-27347524-C-G |
c.1317G>C |
p.V439= |
Synonymous |
11/18 |
- |
1 |
21-27347524-C-T |
c.1317G>A |
p.V439= |
Synonymous |
11/18 |
- |
2 |
21-27347525-A-G |
c.1316T>C |
p.V439A |
Missense |
11/18 |
- |
1 |
21-27347527-T-A |
c.1314A>T |
p.K438N |
Missense |
11/18 |
- |
2 |
21-27347527-T-G |
c.1314A>C |
p.K438N |
Missense |
11/18 |
- |
2 |
21-27347528-T-C |
c.1313A>G |
p.K438R |
Missense |
11/18 |
- |
1 |
21-27347528-TT-GC |
c.1312_1313delinsGC |
p.K438A |
Missense |
11/18 |
- |
1 |
21-27347535-G-A |
c.1306C>T |
p.Q436* |
Nonsense |
11/18 |
- |
5 |
21-27347536-G-A |
c.1305C>T |
p.F435= |
Synonymous |
11/18 |
- |
2 |
21-27347568-G-A |
c.1300-27C>T |
- |
IntronicSNV |
- |
10/17 |
1 |
21-27348253-G-A |
c.1299+14C>T |
- |
IntronicSNV |
- |
10/17 |
1 |
21-27348258-A-C |
c.1299+9T>G |
- |
IntronicSNV |
- |
10/17 |
1 |
21-27348258-A-G |
c.1299+9T>C |
- |
IntronicSNV |
- |
10/17 |
1 |
21-27348270-G-A |
c.1296C>T |
p.I432= |
Synonymous |
10/18 |
- |
1 |
21-27348271-A-G |
c.1295T>C |
p.I432T |
Missense |
10/18 |
- |
1 |
21-27348272-T-G |
c.1294A>C |
p.I432L |
Missense |
10/18 |
- |
1 |
21-27348275-C-A |
c.1291G>T |
p.V431F |
Missense |
10/18 |
- |
1 |
21-27348275-C-G |
c.1291G>C |
p.V431L |
Missense |
10/18 |
- |
1 |
21-27348275-C-T |
c.1291G>A |
p.V431I |
Missense |
10/18 |
- |
1 |
21-27348279-C-T |
c.1287G>A |
p.K429= |
Synonymous |
10/18 |
- |
1 |
21-27348284-T-C |
c.1282A>G |
p.K428E |
Missense |
10/18 |
- |
1 |
21-27348285-A-C |
c.1281T>G |
p.D427E |
Missense |
10/18 |
- |
1 |
21-27348285-A-T |
c.1281T>A |
p.D427E |
Missense |
10/18 |
- |
1 |
21-27348286-T-A |
c.1280A>T |
p.D427V |
Missense |
10/18 |
- |
1 |
21-27348287-C-G |
c.1279G>C |
p.D427H |
Missense |
10/18 |
- |
1 |
21-27348287-C-T |
c.1279G>A |
p.D427N |
Missense |
10/18 |
- |
2 |
21-27348289-G-A |
c.1277C>T |
p.A426V |
Missense |
10/18 |
- |
3 |
21-27348293-T-C |
c.1273A>G |
p.K425E |
Missense |
10/18 |
- |
1 |
21-27348294-A-C |
c.1272T>G |
p.P424= |
Synonymous |
10/18 |
- |
2 |
21-27348294-A-G |
c.1272T>C |
p.P424= |
Synonymous |
10/18 |
- |
1 |
21-27348294-A-T |
c.1272T>A |
p.P424= |
Synonymous |
10/18 |
- |
1 |
21-27348297-C-T |
c.1269G>A |
p.L423= |
Synonymous |
10/18 |
- |
1 |
21-27348299-A-G |
c.1267T>C |
p.L423= |
Synonymous |
10/18 |
- |
1 |
21-27348304-TT-GC |
c.1261_1262delinsGC |
p.K421A |
Missense |
10/18 |
- |
1 |
21-27348307-G-A |
c.1259C>T |
p.A420V |
Missense |
10/18 |
- |
1 |
21-27348309-T-G |
c.1257A>C |
p.Q419H |
Missense |
10/18 |
- |
1 |
21-27348308-CT-C |
c.1257del |
p.A420Qfs*75 |
Frameshift |
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 |
- |
2 |
21-27348314-G-A |
c.1252C>T |
p.R418C |
Missense |
10/18 |
- |
3 |
21-27348316-T-C |
c.1250A>G |
p.E417G |
Missense |
10/18 |
- |
2 |
21-27348317-C-T |
c.1249G>A |
p.E417K |
Missense |
10/18 |
- |
1 |
21-27348319-G-A |
c.1247C>T |
p.A416V |
Missense |
10/18 |
- |
1 |
21-27348322-CTCTT-C |
c.1241_1244del |
p.E414Gfs*80 |
Frameshift |
10/18 |
- |
1 |
21-27348328-CA-GC |
c.1237_1238delinsGC |
p.W413A |
Missense |
10/18 |
- |
1 |
21-27348333-TC-AT |
c.1232_1233delinsAT |
p.R411N |
Missense |
10/18 |
- |
1 |
21-27348334-C-T |
c.1232G>A |
p.R411K |
Missense |
10/18 |
- |
1 |
21-27348336-C-A |
c.1230G>T |
p.M410I |
Missense |
10/18 |
- |
2 |
21-27348336-C-G |
c.1230G>C |
p.M410I |
Missense |
10/18 |
- |
2 |
21-27348336-C-T |
c.1230G>A |
p.M410I |
Missense |
10/18 |
- |
2 |
21-27348372-A-G |
c.1225-31T>C |
- |
IntronicSNV |
- |
9/17 |
8 |
21-27348386-C-A |
c.1225-45G>T |
- |
IntronicSNV |
- |
9/17 |
1 |
21-27348447-A-G |
c.1225-106T>C |
- |
IntronicSNV |
- |
9/17 |
4 |
21-27348460-T-A |
c.1225-119A>T |
- |
IntronicSNV |
- |
9/17 |
4 |
21-27348460-T-G |
c.1225-119A>C |
- |
IntronicSNV |
- |
9/17 |
4 |
21-27352728-A-G |
c.1224+1929T>C |
- |
IntronicSNV |
- |
9/17 |
1 |
21-27353033-C-G |
c.1224+1624G>C |
- |
IntronicSNV |
- |
9/17 |
1 |
21-27354530-T-A |
c.1224+127A>T |
- |
IntronicSNV |
- |
9/17 |
1 |
21-27354603-C-A |
c.1224+54G>T |
- |
IntronicSNV |
- |
9/17 |
1 |
21-27354624-C-T |
c.1224+33G>A |
- |
IntronicSNV |
- |
9/17 |
1 |
21-27354637-G-A |
c.1224+20C>T |
- |
IntronicSNV |
- |
9/17 |
1 |
21-27354657-C-A |
c.1224G>T |
p.Q408H |
Missense |
9/18 |
- |
1 |
21-27354657-C-T |
c.1224G>A |
p.Q408= |
Synonymous |
9/18 |
- |
1 |
21-27354659-G-A |
c.1222C>T |
p.Q408* |
Nonsense |
9/18 |
- |
1 |
21-27354659-G-GT |
c.1221_1222insA |
p.Q408Tfs*18 |
Frameshift |
9/18 |
- |
2 |
21-27354660-G-A |
c.1221C>T |
p.S407= |
Synonymous |
9/18 |
- |
5 |
21-27354658-T-TG |
c.1222dup |
p.Q408Pfs*18 |
SpliceDonorInsertion |
9/18 |
- |
2 |
21-27354662-A-T |
c.1219T>A |
p.S407T |
Missense |
9/18 |
- |
1 |
21-27354665-T-C |
c.1216A>G |
p.M406V |
Missense |
9/18 |
- |
2 |
21-27354666-T-C |
c.1215A>G |
p.R405= |
Synonymous |
9/18 |
- |
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 |
21-27354674-G-A |
c.1207C>T |
p.R403* |
Nonsense |
9/18 |
- |
1 |
21-27354677-G-A |
c.1204C>T |
p.H402Y |
Missense |
9/18 |
- |
2 |
21-27354680-T-C |
c.1201A>G |
p.K401E |
Missense |
9/18 |
- |
1 |
21-27354683-C-T |
c.1198G>A |
p.A400T |
Missense |
9/18 |
- |
1 |
21-27354684-C-T |
c.1197G>A |
p.E399= |
Synonymous |
9/18 |
- |
2 |
21-27354686-C-A |
c.1195G>T |
p.E399* |
Nonsense |
9/18 |
- |
1 |
21-27354686-C-G |
c.1195G>C |
p.E399Q |
Missense |
9/18 |
- |
4 |
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 |
- |
2 |
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 |
- |
4 |
21-27354691-C-G |
c.1190G>C |
p.R397T |
Missense |
9/18 |
- |
2 |
21-27354691-CT-TG |
c.1189_1190delinsCA |
p.R397Q |
Missense |
9/18 |
- |
1 |
21-27354695-C-T |
c.1186G>A |
p.E396K |
Missense |
9/18 |
- |
1 |
21-27354696-T-A |
c.1185A>T |
p.K395N |
Missense |
9/18 |
- |
1 |
21-27354703-T-C |
c.1178A>G |
p.K393R |
Missense |
9/18 |
- |
1 |
21-27354704-T-C |
c.1177A>G |
p.K393E |
Missense |
9/18 |
- |
3 |
21-27354704-T-TA |
c.1176_1177insT |
p.K393* |
Nonsense |
9/18 |
- |
1 |
21-27354707-G-C |
c.1174C>G |
p.Q392E |
Missense |
9/18 |
- |
1 |
21-27354708-G-A |
c.1173C>T |
p.F391= |
Synonymous |
9/18 |
- |
1 |
21-27354708-G-C |
c.1173C>G |
p.F391L |
Missense |
9/18 |
- |
1 |
21-27354708-G-T |
c.1173C>A |
p.F391L |
Missense |
9/18 |
- |
1 |
21-27354710-A-C |
c.1171T>G |
p.F391V |
Missense |
9/18 |
- |
2 |
21-27354710-A-G |
c.1171T>C |
p.F391L |
Missense |
9/18 |
- |
1 |
21-27354716-C-T |
c.1165G>A |
p.A389T |
Missense |
9/18 |
- |
1 |
21-27354723-A-G |
c.1158T>C |
p.N386= |
Synonymous |
9/18 |
- |
1 |
21-27354724-T-C |
c.1157A>G |
p.N386S |
Missense |
9/18 |
- |
1 |
21-27354727-T-G |
c.1154A>C |
p.E385A |
Missense |
9/18 |
- |
1 |
21-27354728-C-A |
c.1153G>T |
p.E385* |
Nonsense |
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 |
21-27354732-C-T |
c.1149G>A |
p.G383= |
Synonymous |
9/18 |
- |
1 |
21-27354733-C-A |
c.1148G>T |
p.G383V |
Missense |
9/18 |
- |
1 |
21-27354737-G-A |
c.1144C>T |
p.P382S |
Missense |
9/18 |
- |
2 |
21-27354742-T-C |
c.1139A>G |
p.E380G |
Missense |
9/18 |
- |
1 |
21-27354743-C-A |
c.1138G>T |
p.E380* |
Nonsense |
9/18 |
- |
1 |
21-27354743-C-G |
c.1138G>C |
p.E380Q |
Missense |
9/18 |
- |
1 |
21-27354743-C-T |
c.1138G>A |
p.E380K |
Missense |
9/18 |
- |
3 |
21-27354748-T-C |
c.1133A>G |
p.Y378C |
Missense |
9/18 |
- |
1 |
21-27354755-C-T |
c.1126G>A |
p.D376N |
Missense |
9/18 |
- |
1 |
21-27354757-A-G |
c.1124T>C |
p.V375A |
Missense |
9/18 |
- |
1 |
21-27354758-C-A |
c.1123G>T |
p.V375F |
Missense |
9/18 |
- |
1 |
21-27354758-C-T |
c.1123G>A |
p.V375I |
Missense |
9/18 |
- |
5 |
21-27354759-G-A |
c.1122C>T |
p.A374= |
Synonymous |
9/18 |
- |
2 |
21-27354760-G-T |
c.1121C>A |
p.A374D |
Missense |
9/18 |
- |
1 |
21-27354761-C-G |
c.1120G>C |
p.A374P |
Missense |
9/18 |
- |
1 |
21-27354767-G-A |
c.1114C>T |
p.P372S |
Missense |
9/18 |
- |
2 |
21-27354767-G-C |
c.1114C>G |
p.P372A |
Missense |
9/18 |
- |
1 |
21-27354768-GGGT-G |
c.1111_1113del |
p.T371del |
InFrameDeletion |
9/18 |
- |
1 |
21-27354770-T-C |
c.1111A>G |
p.T371A |
Missense |
9/18 |
- |
2 |
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 |
21-27354775-G-A |
c.1106C>T |
p.A369V |
Missense |
9/18 |
- |
3 |
21-27354775-G-C |
c.1106C>G |
p.A369G |
Missense |
9/18 |
- |
1 |
21-27354776-C-T |
c.1105G>A |
p.A369T |
Missense |
9/18 |
- |
4 |
21-27354779-C-G |
c.1102G>C |
p.A368P |
Missense |
9/18 |
- |
1 |
21-27354780-T-A |
c.1101A>T |
p.T367= |
Synonymous |
9/18 |
- |
1 |
21-27354780-T-C |
c.1101A>G |
p.T367= |
Synonymous |
9/18 |
- |
2 |
21-27354780-T-G |
c.1101A>C |
p.T367= |
Synonymous |
9/18 |
- |
1 |
21-27354783-TGT-CCA |
c.1096_1098delinsTGG |
p.T366W |
Missense |
9/18 |
- |
1 |
21-27354784-G-A |
c.1097C>T |
p.T366I |
Missense |
9/18 |
- |
1 |
21-27354785-T-A |
c.1096A>T |
p.T366S |
Missense |
9/18 |
- |
1 |
21-27354785-T-C |
c.1096A>G |
p.T366A |
Missense |
9/18 |
- |
1 |
21-27354788-G-A |
c.1093C>T |
p.P365S |
Missense |
9/18 |
- |
2 |
21-27354790-A-G |
c.1091T>C |
p.L364P |
Missense |
9/18 |
- |
2 |
21-27354812-G-A |
c.1091-22C>T |
- |
IntronicSNV |
- |
8/17 |
1 |
21-27354828-G-C |
c.1091-38C>G |
- |
IntronicSNV |
- |
8/17 |
1 |
21-27354868-C-T |
c.1091-78G>A |
- |
IntronicSNV |
- |
8/17 |
1 |
21-27354869-G-A |
c.1091-79C>T |
- |
IntronicSNV |
- |
8/17 |
1 |
21-27355017-T-C |
c.1091-227A>G |
- |
IntronicSNV |
- |
8/17 |
3 |
21-27355813-A-T |
c.1091-1023T>A |
- |
IntronicSNV |
- |
8/17 |
1 |
21-27358111-T-A |
c.1091-3321A>T |
- |
IntronicSNV |
- |
8/17 |
1 |
21-27359646-A-G |
c.1091-4856T>C |
- |
IntronicSNV |
- |
8/17 |
1 |
21-27359663-C-T |
c.1091-4873G>A |
- |
IntronicSNV |
- |
8/17 |
2 |
21-27361242-G-A |
c.1091-6452C>T |
- |
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 |
21-27362771-G-A |
c.1090+6904C>T |
- |
IntronicSNV |
- |
8/17 |
1 |
21-27368439-AT-A |
c.1090+1235del |
- |
IntronicDeletion |
- |
8/17 |
1 |
21-27369355-T-G |
c.1090+320A>C |
- |
IntronicSNV |
- |
8/17 |
1 |
21-27369409-T-C |
c.1090+266A>G |
- |
IntronicSNV |
- |
8/17 |
1 |
21-27369481-C-T |
c.1090+194G>A |
- |
IntronicSNV |
- |
8/17 |
5 |
21-27369663-A-C |
c.1090+12T>G |
- |
IntronicSNV |
- |
8/17 |
1 |
21-27369670-C-T |
c.1090+5G>A |
- |
IntronicSNV |
- |
8/17 |
1 |
21-27369671-G-A |
c.1090+4C>T |
- |
IntronicSNV |
- |
8/17 |
1 |
21-27369674-AC-A |
c.1090+1del |
- |
IntronicDeletion |
- |
8/17 |
1 |
21-27369675-G-A |
c.1090C>T |
p.L364F |
Missense |
8/18 |
- |
5 |
21-27369678-T-C |
c.1087A>G |
p.K363E |
Missense |
8/18 |
- |
1 |
21-27369681-C-CT |
c.1083_1084insA |
p.V362Sfs*2 |
Frameshift |
8/18 |
- |
1 |
21-27369681-C-T |
c.1084G>A |
p.V362I |
Missense |
8/18 |
- |
1 |
21-27369683-G-C |
c.1082C>G |
p.P361R |
Missense |
8/18 |
- |
1 |
21-27369684-G-A |
c.1081C>T |
p.P361S |
Missense |
8/18 |
- |
1 |
21-27369686-T-A |
c.1079A>T |
p.D360V |
Missense |
8/18 |
- |
1 |
21-27369689-C-G |
c.1076G>C |
p.R359P |
Missense |
8/18 |
- |
1 |
21-27369689-C-T |
c.1076G>A |
p.R359Q |
Missense |
8/18 |
- |
2 |
21-27369690-G-A |
c.1075C>T |
p.R359* |
UnclassifiedSNV |
8/18 |
- |
3 |
21-27369691-G-A |
c.1074C>T |
p.A358= |
Synonymous |
8/18 |
- |
1 |
21-27369691-GGC-TTA |
c.1072_1074delinsTAA |
p.A358* |
Nonsense |
8/18 |
- |
1 |
21-27369692-G-A |
c.1073C>T |
p.A358V |
Missense |
8/18 |
- |
3 |
21-27369693-C-T |
c.1072G>A |
p.A358T |
Missense |
8/18 |
- |
1 |
21-27369698-G-A |
c.1067C>T |
p.P356L |
Missense |
8/18 |
- |
1 |
21-27369699-G-A |
c.1066C>T |
p.P356S |
Missense |
8/18 |
- |
5 |
21-27369699-G-C |
c.1066C>G |
p.P356A |
Missense |
8/18 |
- |
1 |
21-27369701-T-A |
c.1064A>T |
p.E355V |
Missense |
8/18 |
- |
1 |
21-27369702-C-T |
c.1063G>A |
p.E355K |
Missense |
8/18 |
- |
2 |
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 |
21-27369709-A-C |
c.1056T>G |
p.T352= |
Synonymous |
8/18 |
- |
1 |
21-27369709-A-G |
c.1056T>C |
p.T352= |
Synonymous |
8/18 |
- |
1 |
21-27369709-A-T |
c.1056T>A |
p.T352= |
Synonymous |
8/18 |
- |
1 |
21-27369711-T-C |
c.1054A>G |
p.T352A |
Missense |
8/18 |
- |
1 |
21-27369712-C-T |
c.1053G>A |
p.K351= |
Synonymous |
8/18 |
- |
1 |
21-27369713-T-C |
c.1052A>G |
p.K351R |
Missense |
8/18 |
- |
2 |
21-27369717-G-A |
c.1048C>T |
p.L350F |
Missense |
8/18 |
- |
1 |
21-27369717-G-T |
c.1048C>A |
p.L350I |
Missense |
8/18 |
- |
1 |
21-27369718-T-C |
c.1047A>G |
p.L349= |
Synonymous |
8/18 |
- |
1 |
21-27369720-A-G |
c.1045T>C |
p.L349= |
Synonymous |
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 |
21-27369730-C-A |
c.1035G>T |
p.M345I |
Missense |
8/18 |
- |
1 |
21-27369838-C-T |
c.1034-107G>A |
- |
IntronicSNV |
- |
7/17 |
3 |
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 |
21-27372194-G-C |
c.1033+136C>G |
- |
IntronicSNV |
- |
7/17 |
1 |
21-27372286-G-A |
c.1033+44C>T |
- |
IntronicSNV |
- |
7/17 |
1 |
21-27372304-C-T |
c.1033+26G>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 |
- |
3 |
21-27372332-G-A |
c.1031C>T |
p.A344V |
Missense |
7/18 |
- |
3 |
21-27372332-G-C |
c.1031C>G |
p.A344G |
Missense |
7/18 |
- |
2 |
21-27372333-C-A |
c.1030G>T |
p.A344S |
Missense |
7/18 |
- |
1 |
21-27372333-C-T |
c.1030G>A |
p.A344T |
Missense |
7/18 |
- |
4 |
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 |
21-27372339-C-T |
c.1024G>A |
p.G342S |
Missense |
7/18 |
- |
2 |
21-27372343-C-A |
c.1020G>T |
p.V340= |
Synonymous |
7/18 |
- |
1 |
21-27372343-C-G |
c.1020G>C |
p.V340= |
Synonymous |
7/18 |
- |
1 |
21-27372343-C-T |
c.1020G>A |
p.V340= |
Synonymous |
7/18 |
- |
1 |
21-27372345-C-A |
c.1018G>T |
p.V340L |
Missense |
7/18 |
- |
1 |
21-27372345-C-T |
c.1018G>A |
p.V340M |
Missense |
7/18 |
- |
6 |
21-27372347-G-A |
c.1016C>T |
p.A339V |
Missense |
7/18 |
- |
1 |
21-27372348-C-T |
c.1015G>A |
p.A339T |
Missense |
7/18 |
- |
3 |
21-27372351-T-C |
c.1012A>G |
p.M338V |
Missense |
7/18 |
- |
2 |
21-27372355-G-A |
c.1008C>T |
p.Y336= |
Synonymous |
7/18 |
- |
1 |
21-27372364-T-A |
c.999A>T |
p.T333= |
Synonymous |
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 |
- |
5 |
21-27372369-C-T |
c.994G>A |
p.D332N |
Missense |
7/18 |
- |
1 |
21-27372378-T-C |
c.985A>G |
p.N329D |
Missense |
7/18 |
- |
1 |
21-27372380-C-G |
c.983G>C |
p.R328P |
Missense |
7/18 |
- |
1 |
21-27372380-CG-GC |
c.982_983delinsGC |
p.R328A |
Missense |
7/18 |
- |
1 |
21-27372381-G-A |
c.982C>T |
p.R328W |
Missense |
7/18 |
- |
8 |
21-27372383-T-C |
c.980A>G |
p.N327S |
Missense |
7/18 |
- |
1 |
21-27372384-T-C |
c.979A>G |
p.N327D |
Missense |
7/18 |
- |
1 |
21-27372385-G-T |
c.978C>A |
p.G326= |
Synonymous |
7/18 |
- |
1 |
21-27372386-C-A |
c.977G>T |
p.G326V |
Missense |
7/18 |
- |
1 |
21-27372387-C-G |
c.976G>C |
p.G326R |
Missense |
7/18 |
- |
2 |
21-27372387-C-T |
c.976G>A |
p.G326S |
Missense |
7/18 |
- |
3 |
21-27372388-G-A |
c.975C>T |
p.G325= |
Synonymous |
7/18 |
- |
3 |
21-27372390-C-G |
c.973G>C |
p.G325R |
Missense |
7/18 |
- |
1 |
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 |
21-27372396-C-G |
c.967G>C |
p.G323R |
Missense |
7/18 |
- |
3 |
21-27372396-C-T |
c.967G>A |
p.G323R |
Missense |
7/18 |
- |
3 |
21-27372398-C-G |
c.965G>C |
p.G322A |
Missense |
7/18 |
- |
2 |
21-27372398-C-T |
c.965G>A |
p.G322D |
Missense |
7/18 |
- |
1 |
21-27372399-C-A |
c.964G>T |
p.G322C |
Missense |
7/18 |
- |
2 |
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 |
21-27372406-G-A |
c.957C>T |
p.F319= |
Synonymous |
7/18 |
- |
1 |
21-27372406-G-C |
c.957C>G |
p.F319L |
Missense |
7/18 |
- |
1 |
21-27372406-G-T |
c.957C>A |
p.F319L |
Missense |
7/18 |
- |
1 |
21-27372408-A-G |
c.955T>C |
p.F319L |
Missense |
7/18 |
- |
1 |
21-27372412-G-A |
c.951C>T |
p.A317= |
Synonymous |
7/18 |
- |
1 |
21-27372412-G-C |
c.951C>G |
p.A317= |
Synonymous |
7/18 |
- |
1 |
21-27372412-G-T |
c.951C>A |
p.A317= |
Synonymous |
7/18 |
- |
1 |
21-27372413-G-A |
c.950C>T |
p.A317V |
Missense |
7/18 |
- |
2 |
21-27372414-C-A |
c.949G>T |
p.A317S |
Missense |
7/18 |
- |
1 |
21-27372415-A-T |
c.948T>A |
p.C316* |
Nonsense |
7/18 |
- |
3 |
21-27372418-C-A |
c.945G>T |
p.K315N |
Missense |
7/18 |
- |
2 |
21-27372418-C-G |
c.945G>C |
p.K315N |
Missense |
7/18 |
- |
3 |
21-27372420-T-C |
c.943A>G |
p.K315E |
Missense |
7/18 |
- |
1 |
21-27372421-C-A |
c.942G>T |
p.G314= |
Synonymous |
7/18 |
- |
1 |
21-27372421-C-G |
c.942G>C |
p.G314= |
Synonymous |
7/18 |
- |
1 |
21-27372421-C-T |
c.942G>A |
p.G314= |
Synonymous |
7/18 |
- |
1 |
21-27372422-C-T |
c.941G>A |
p.G314E |
Missense |
7/18 |
- |
4 |
21-27372424-T-A |
c.939A>T |
p.E313D |
Missense |
7/18 |
- |
1 |
21-27372424-T-G |
c.939A>C |
p.E313D |
Missense |
7/18 |
- |
1 |
21-27372425-T-A |
c.938A>T |
p.E313V |
Missense |
7/18 |
- |
1 |
21-27372429-T-C |
c.934A>G |
p.T312A |
Missense |
7/18 |
- |
1 |
21-27372430-C-A |
c.933G>T |
p.V311= |
Synonymous |
7/18 |
- |
2 |
21-27372430-C-T |
c.933G>A |
p.V311= |
Synonymous |
7/18 |
- |
1 |
21-27372432-C-T |
c.931G>A |
p.V311M |
Missense |
7/18 |
- |
1 |
21-27372439-G-C |
c.924C>G |
p.Y308* |
Nonsense |
7/18 |
- |
4 |
21-27372439-G-T |
c.924C>A |
p.Y308* |
Nonsense |
7/18 |
- |
3 |
21-27372443-C-T |
c.920G>A |
p.W307* |
Nonsense |
7/18 |
- |
1 |
21-27372446-C-A |
c.917G>T |
p.R306L |
Missense |
7/18 |
- |
2 |
21-27372446-C-T |
c.917G>A |
p.R306H |
Missense |
7/18 |
- |
2 |
21-27372447-G-A |
c.916C>T |
p.R306C |
Missense |
7/18 |
- |
6 |
21-27372448-G-A |
c.915C>T |
p.S305= |
Synonymous |
7/18 |
- |
8 |
21-27372448-G-C |
c.915C>G |
p.S305= |
Synonymous |
7/18 |
- |
8 |
21-27372448-G-T |
c.915C>A |
p.S305= |
Synonymous |
7/18 |
- |
8 |
21-27372449-G-A |
c.914C>T |
p.S305F |
Missense |
7/18 |
- |
1 |
21-27372449-GA-AT |
c.913_914delinsAT |
p.S305I |
Missense |
7/18 |
- |
3 |
21-27372449-GA-TT |
c.913_914delinsAA |
p.S305N |
Missense |
7/18 |
- |
17 |
21-27372450-A-C |
c.913T>G |
p.S305A |
Missense |
7/18 |
- |
1 |
21-27372453-T-A |
c.910A>T |
p.I304F |
Missense |
7/18 |
- |
1 |
21-27372453-T-C |
c.910A>G |
p.I304V |
Missense |
7/18 |
- |
2 |
21-27372454-C-T |
c.909G>A |
p.M303I |
Missense |
7/18 |
- |
4 |
21-27372455-A-G |
c.908T>C |
p.M303T |
Missense |
7/18 |
- |
1 |
21-27372456-T-C |
c.907A>G |
p.M303V |
Missense |
7/18 |
- |
1 |
21-27372459-C-T |
c.904G>A |
p.A302T |
Missense |
7/18 |
- |
1 |
21-27372460-TCG-ACA |
c.901_903delinsTGT |
p.R301C |
Missense |
7/18 |
- |
3 |
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 |
21-27372461-C-T |
c.902G>A |
p.R301Q |
Missense |
7/18 |
- |
2 |
21-27372460-T-A |
c.903A>T |
p.R301= |
Synonymous |
7/18 |
- |
1 |
21-27372460-T-C |
c.903A>G |
p.R301= |
Synonymous |
7/18 |
- |
1 |
21-27372460-T-G |
c.903A>C |
p.R301= |
Synonymous |
7/18 |
- |
1 |
21-27372462-G-A |
c.901C>T |
p.R301* |
Nonsense |
7/18 |
- |
2 |
21-27372462-G-C |
c.901C>G |
p.R301G |
Missense |
7/18 |
- |
4 |
21-27372462-G-T |
c.901C>A |
p.R301= |
Synonymous |
7/18 |
- |
2 |
21-27372463-G-T |
c.900C>A |
p.C300* |
Nonsense |
7/18 |
- |
1 |
21-27372466-AC-A |
c.897del |
p.C300Afs*4 |
Frameshift |
7/18 |
- |
1 |
21-27372467-G-A |
c.896C>T |
p.P299L |
Missense |
7/18 |
- |
6 |
21-27372467-G-C |
c.896C>G |
p.P299R |
Missense |
7/18 |
- |
1 |
21-27372470-CC-GT |
c.892_893delinsAC |
p.G298T |
Missense |
7/18 |
- |
1 |
21-27372471-C-G |
c.892G>C |
p.G298R |
Missense |
7/18 |
- |
1 |
21-27372472-C-A |
c.891G>T |
p.T297= |
Synonymous |
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 |
- |
9 |
21-27372473-G-T |
c.890C>A |
p.T297K |
Missense |
7/18 |
- |
1 |
21-27372474-T-A |
c.889A>T |
p.T297S |
Missense |
7/18 |
- |
1 |
21-27372477-C-T |
c.886G>A |
p.E296K |
Missense |
7/18 |
- |
10 |
21-27372478-G-A |
c.885C>T |
p.A295= |
Synonymous |
7/18 |
- |
1 |
21-27372480-C-A |
c.883G>T |
p.A295S |
Missense |
7/18 |
- |
1 |
21-27372482-T-C |
c.881A>G |
p.Q294R |
Missense |
7/18 |
- |
1 |
21-27372483-G-A |
c.880C>T |
p.Q294* |
Nonsense |
7/18 |
- |
1 |
21-27372488-G-A |
c.875C>T |
p.S292F |
Missense |
7/18 |
- |
1 |
21-27372491-CA-GC |
c.871_872delinsGC |
p.C291A |
Missense |
7/18 |
- |
5 |
21-27372491-C-G |
c.872G>C |
p.C291S |
Missense |
7/18 |
- |
3 |
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 |
- |
3 |
21-27372493-CAC-ATA |
c.868_870delinsTAT |
p.V290Y |
Missense |
7/18 |
- |
1 |
21-27372494-AC-CA |
c.868_869delinsTG |
p.V290W |
Missense |
7/18 |
- |
1 |
21-27372497-T-A |
c.866A>T |
p.E289V |
Missense |
7/18 |
- |
1 |
21-27372497-T-C |
c.866A>G |
p.E289G |
Missense |
7/18 |
- |
2 |
21-27372825-C-T |
c.866-328G>A |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27374604-C-A |
c.866-2107G>T |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27382362-A-AG |
c.866-9866_866-9865insC |
- |
IntronicInsertion |
- |
6/17 |
3 |
21-27382362-A-G |
c.866-9865T>C |
- |
IntronicSNV |
- |
6/17 |
2 |
21-27382417-C-G |
c.866-9920G>C |
- |
IntronicSNV |
- |
6/17 |
4 |
21-27384096-T-C |
c.865+10060A>G |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27387570-C-T |
c.865+6586G>A |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27387763-T-C |
c.865+6393A>G |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27387984-A-C |
c.865+6172T>G |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27387984-A-G |
c.865+6172T>C |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27389248-GGGGCGGGGGGCGGGGGGC-G |
c.865+4890_865+4907del |
- |
IntronicDeletion |
- |
6/17 |
1 |
21-27389252-C-A |
c.865+4904G>T |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27389252-C-G |
c.865+4904G>C |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27389252-C-T |
c.865+4904G>A |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27389256-G-T |
c.865+4900C>A |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27390503-GT-G |
c.865+3652del |
- |
IntronicDeletion |
- |
6/17 |
1 |
21-27391459-T-C |
c.865+2697A>G |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27392818-T-C |
c.865+1338A>G |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27394030-C-A |
c.865+126G>T |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27394030-C-G |
c.865+126G>C |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27394030-C-T |
c.865+126G>A |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27394106-C-A |
c.865+50G>T |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27394106-C-T |
c.865+50G>A |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27394155-C-A |
c.865+1G>T |
- |
IntronicSNV |
- |
6/17 |
1 |
21-27394156-C-A |
c.865G>T |
p.E289* |
Nonsense |
6/18 |
- |
1 |
21-27394156-C-G |
c.865G>C |
p.E289Q |
Missense |
6/18 |
- |
1 |
21-27394157-TCG-ATA |
c.862_864delinsTAT |
p.R288Y |
Missense |
6/18 |
- |
1 |
21-27394158-C-A |
c.863G>T |
p.R288L |
Missense |
6/18 |
- |
1 |
21-27394158-C-G |
c.863G>C |
p.R288P |
Missense |
6/18 |
- |
1 |
21-27394158-CG-GC |
c.862_863delinsGC |
p.R288A |
Missense |
6/18 |
- |
1 |
21-27394158-C-T |
c.863G>A |
p.R288Q |
Missense |
6/18 |
- |
2 |
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 |
21-27394160-A-G |
c.861T>C |
p.V287= |
Synonymous |
6/18 |
- |
1 |
21-27394161-A-C |
c.860T>G |
p.V287G |
Missense |
6/18 |
- |
4 |
21-27394162-C-T |
c.859G>A |
p.V287I |
Missense |
6/18 |
- |
2 |
21-27394168-C-G |
c.853G>C |
p.E285Q |
Missense |
6/18 |
- |
3 |
21-27394170-T-C |
c.851A>G |
p.E284G |
Missense |
6/18 |
- |
1 |
21-27394171-C-T |
c.850G>A |
p.E284K |
Missense |
6/18 |
- |
3 |
21-27394173-A-G |
c.848T>C |
p.V283A |
Missense |
6/18 |
- |
1 |
21-27394174-C-A |
c.847G>T |
p.V283L |
Missense |
6/18 |
- |
1 |
21-27394177-A-C |
c.844T>G |
p.S282A |
Missense |
6/18 |
- |
1 |
21-27394177-A-G |
c.844T>C |
p.S282P |
Missense |
6/18 |
- |
1 |
21-27394178-C-A |
c.843G>T |
p.E281D |
Missense |
6/18 |
- |
1 |
21-27394179-T-G |
c.842A>C |
p.E281A |
Missense |
6/18 |
- |
1 |
21-27394180-C-G |
c.841G>C |
p.E281Q |
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 |
- |
2 |
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 |
- |
2 |
21-27394183-T-G |
c.838A>C |
p.T280P |
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 |
21-27394186-T-C |
c.835A>G |
p.T279A |
Missense |
6/18 |
- |
1 |
21-27394189-T-A |
c.832A>T |
p.T278S |
Missense |
6/18 |
- |
1 |
21-27394191-G-T |
c.830C>A |
p.T277N |
Missense |
6/18 |
- |
2 |
21-27394192-T-C |
c.829A>G |
p.T277A |
Missense |
6/18 |
- |
1 |
21-27394193-G-A |
c.828C>T |
p.T276= |
Synonymous |
6/18 |
- |
2 |
21-27394194-G-C |
c.827C>G |
p.T276S |
Missense |
6/18 |
- |
3 |
21-27394195-T-A |
c.826A>T |
p.T276S |
Missense |
6/18 |
- |
4 |
21-27394195-T-G |
c.826A>C |
p.T276P |
Missense |
6/18 |
- |
1 |
21-27394181-TGTGGTG-T |
c.834_839del |
p.T279_T280del |
InFrameDeletion |
6/18 |
- |
1 |
21-27394199-GG-CA |
c.821_822delinsTG |
p.T274M |
Missense |
6/18 |
- |
1 |
21-27394181-TGTG-T |
c.837_839del |
p.T280del |
InFrameDeletion |
6/18 |
- |
10 |
21-27394201-T-C |
c.820A>G |
p.T274A |
Missense |
6/18 |
- |
2 |
21-27394204-C-T |
c.817G>A |
p.A273T |
Missense |
6/18 |
- |
2 |
21-27394204-GCAA-G |
c.815_817del |
p.I272_A273delinsT |
MultiAAMissense |
6/18 |
- |
1 |
21-27394205-A-G |
c.816T>C |
p.I272= |
Synonymous |
6/18 |
- |
1 |
21-27394205-A-T |
c.816T>A |
p.I272= |
Synonymous |
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 |
21-27394213-T-G |
c.808A>C |
p.T270P |
Missense |
6/18 |
- |
1 |
21-27394214-G-A |
c.807C>T |
p.T269= |
Synonymous |
6/18 |
- |
1 |
21-27394215-G-A |
c.806C>T |
p.T269I |
Missense |
6/18 |
- |
1 |
21-27394217-TCT-ATG |
c.802_804delinsCAT |
p.R268H |
Missense |
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 |
- |
4 |
21-27394223-T-A |
c.798A>T |
p.T266= |
Synonymous |
6/18 |
- |
2 |
21-27394223-T-C |
c.798A>G |
p.T266= |
Synonymous |
6/18 |
- |
2 |
21-27394223-T-G |
c.798A>C |
p.T266= |
Synonymous |
6/18 |
- |
2 |
21-27394223-TG-CA |
c.797_798inv |
p.T266M |
Missense |
6/18 |
- |
1 |
21-27394224-G-C |
c.797C>G |
p.T266R |
Missense |
6/18 |
- |
1 |
21-27394227-G-A |
c.794C>T |
p.A265V |
Missense |
6/18 |
- |
1 |
21-27394228-C-T |
c.793G>A |
p.A265T |
Missense |
6/18 |
- |
1 |
21-27394234-C-G |
c.787G>C |
p.E263Q |
Missense |
6/18 |
- |
1 |
21-27394234-C-T |
c.787G>A |
p.E263K |
Missense |
6/18 |
- |
1 |
21-27394235-G-A |
c.786C>T |
p.Y262= |
Synonymous |
6/18 |
- |
1 |
21-27394239-G-A |
c.782C>T |
p.P261L |
Missense |
6/18 |
- |
1 |
21-27394241-T-A |
c.780A>T |
p.E260D |
Missense |
6/18 |
- |
1 |
21-27394241-T-C |
c.780A>G |
p.E260= |
Synonymous |
6/18 |
- |
1 |
21-27394241-T-G |
c.780A>C |
p.E260D |
Missense |
6/18 |
- |
1 |
21-27394244-C-G |
c.777G>C |
p.E259D |
Missense |
6/18 |
- |
1 |
21-27394248-G-A |
c.773C>T |
p.A258V |
Missense |
6/18 |
- |
2 |
21-27394249-C-T |
c.772G>A |
p.A258T |
Missense |
6/18 |
- |
1 |
21-27394251-TC-GT |
c.769_770delinsAC |
p.E257T |
Missense |
6/18 |
- |
1 |
21-27394252-C-T |
c.769G>A |
p.E257K |
Missense |
6/18 |
- |
1 |
21-27394253-T-A |
c.768A>T |
p.E256D |
Missense |
6/18 |
- |
1 |
21-27394253-T-G |
c.768A>C |
p.E256D |
Missense |
6/18 |
- |
1 |
21-27394254-TTC-T |
c.766_767del |
p.E256Rfs*3 |
Frameshift |
6/18 |
- |
1 |
21-27394255-C-T |
c.766G>A |
p.E256K |
Missense |
6/18 |
- |
3 |
21-27394256-C-A |
c.765G>T |
p.E255D |
Missense |
6/18 |
- |
2 |
21-27394256-C-G |
c.765G>C |
p.E255D |
Missense |
6/18 |
- |
2 |
21-27394260-A-G |
c.761T>C |
p.V254A |
Missense |
6/18 |
- |
1 |
21-27394264-C-T |
c.757G>A |
p.E253K |
Missense |
6/18 |
- |
1 |
21-27394266-T-C |
c.755A>G |
p.D252G |
Missense |
6/18 |
- |
1 |
21-27394267-C-A |
c.754G>T |
p.D252Y |
Missense |
6/18 |
- |
1 |
21-27394267-C-T |
c.754G>A |
p.D252N |
Missense |
6/18 |
- |
1 |
21-27394269-C-A |
c.752G>T |
p.G251V |
Missense |
6/18 |
- |
1 |
21-27394269-C-T |
c.752G>A |
p.G251D |
Missense |
6/18 |
- |
3 |
21-27394270-C-T |
c.751G>A |
p.G251S |
Missense |
6/18 |
- |
2 |
21-27394273-C-G |
c.748G>C |
p.D250H |
Missense |
6/18 |
- |
1 |
21-27394275-T-C |
c.746A>G |
p.E249G |
Missense |
6/18 |
- |
1 |
21-27394276-C-T |
c.745G>A |
p.E249K |
Missense |
6/18 |
- |
2 |
21-27394277-A-C |
c.744T>G |
p.D248E |
Missense |
6/18 |
- |
1 |
21-27394277-A-T |
c.744T>A |
p.D248E |
Missense |
6/18 |
- |
1 |
21-27394278-T-C |
c.743A>G |
p.D248G |
Missense |
6/18 |
- |
3 |
21-27394279-C-T |
c.742G>A |
p.D248N |
Missense |
6/18 |
- |
8 |
21-27394280-G-A |
c.741C>T |
p.D247= |
Synonymous |
6/18 |
- |
1 |
21-27394282-C-CCTAATGAGT |
c.738_739insACTCATTAG |
p.E246_D247insTH* |
Frameshift |
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 |
- |
11 |
21-27394285-C-CGGT |
c.735_736insACC |
p.D245_E246insT |
InFrameInsertion |
6/18 |
- |
1 |
21-27394287-GT-G |
c.734del |
p.D245Afs*10 |
Frameshift |
6/18 |
- |
1 |
21-27394287-T-A |
c.734A>T |
p.D245V |
Missense |
6/18 |
- |
2 |
21-27394287-T-C |
c.734A>G |
p.D245G |
Missense |
6/18 |
- |
1 |
21-27394288-C-T |
c.733G>A |
p.D245N |
Missense |
6/18 |
- |
1 |
21-27394286-GTCATCA-G |
c.729_734del |
p.D244_D245del |
InFrameDeletion |
6/18 |
- |
1 |
21-27394289-A-C |
c.732T>G |
p.D244E |
Missense |
6/18 |
- |
1 |
21-27394289-A-T |
c.732T>A |
p.D244E |
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 |
- |
3 |
21-27394286-GTCA-G |
c.732_734del |
p.D245del |
InFrameDeletion |
6/18 |
- |
5 |
21-27394294-C-G |
c.727G>C |
p.D243H |
Missense |
6/18 |
- |
1 |
21-27394294-C-T |
c.727G>A |
p.D243N |
Missense |
6/18 |
- |
11 |
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 |
21-27394296-G-A |
c.725C>T |
p.A242V |
Missense |
6/18 |
- |
1 |
21-27394301-T-C |
c.720A>G |
p.E240= |
Synonymous |
6/18 |
- |
1 |
21-27394303-C-T |
c.718G>A |
p.E240K |
Missense |
6/18 |
- |
3 |
21-27394296-GCTT-G |
c.722_724del |
p.E241del |
InFrameDeletion |
6/18 |
- |
1 |
21-27394309-C-G |
c.712G>C |
p.E238Q |
Missense |
6/18 |
- |
1 |
21-27394310-C-G |
c.711G>C |
p.V237= |
Synonymous |
6/18 |
- |
1 |
21-27394311-A-C |
c.710T>G |
p.V237G |
Missense |
6/18 |
- |
2 |
21-27394311-A-G |
c.710T>C |
p.V237A |
Missense |
6/18 |
- |
1 |
21-27394315-C-T |
c.706G>A |
p.E236K |
Missense |
6/18 |
- |
1 |
21-27394317-G-A |
c.704C>T |
p.A235V |
Missense |
6/18 |
- |
5 |
21-27394319-C-A |
c.702G>T |
p.V234= |
Synonymous |
6/18 |
- |
2 |
21-27394319-C-G |
c.702G>C |
p.V234= |
Synonymous |
6/18 |
- |
1 |
21-27394319-C-T |
c.702G>A |
p.V234= |
Synonymous |
6/18 |
- |
1 |
21-27394320-A-C |
c.701T>G |
p.V234G |
Missense |
6/18 |
- |
1 |
21-27394321-C-T |
c.700G>A |
p.V234M |
Missense |
6/18 |
- |
2 |
21-27394324-C-G |
c.697G>C |
p.E233Q |
Missense |
6/18 |
- |
2 |
21-27394325-T-A |
c.696A>T |
p.E232D |
Missense |
6/18 |
- |
1 |
21-27394327-C-T |
c.694G>A |
p.E232K |
Missense |
6/18 |
- |
2 |
21-27394330-C-T |
c.691G>A |
p.E231K |
Missense |
6/18 |
- |
2 |
21-27394333-C-G |
c.688G>C |
p.E230Q |
Missense |
6/18 |
- |
1 |
21-27394334-TGC-ACA |
c.685_687delinsTGT |
p.A229C |
Missense |
6/18 |
- |
1 |
21-27394335-G-A |
c.686C>T |
p.A229V |
Missense |
6/18 |
- |
1 |
21-27394336-C-G |
c.685G>C |
p.A229P |
Missense |
6/18 |
- |
1 |
21-27394336-C-T |
c.685G>A |
p.A229T |
Missense |
6/18 |
- |
1 |
21-27394339-C-T |
c.682G>A |
p.V228I |
Missense |
6/18 |
- |
2 |
21-27394341-T-G |
c.680A>C |
p.E227A |
Missense |
6/18 |
- |
1 |
21-27394342-C-T |
c.679G>A |
p.E227K |
Missense |
6/18 |
- |
3 |
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 |
- |
5 |
21-27394349-T-G |
c.672A>C |
p.K224N |
Missense |
6/18 |
- |
1 |
21-27394349-T-TGTG |
c.671_672insCAC |
p.K224delinsNT |
MultiAAMissense |
6/18 |
- |
1 |
21-27394350-T-C |
c.671A>G |
p.K224R |
Missense |
6/18 |
- |
1 |
21-27394347-ACTTTGT-A |
c.668_673del |
p.D223_K224del |
InFrameDeletion |
6/18 |
- |
1 |
21-27394349-TTTG-T |
c.669_671del |
p.D223_K224delinsE |
MultiAAMissense |
6/18 |
- |
6 |
21-27394353-T-C |
c.668A>G |
p.D223G |
Missense |
6/18 |
- |
4 |
21-27394354-C-A |
c.667G>T |
p.D223Y |
Missense |
6/18 |
- |
1 |
21-27394358-A-G |
c.663T>C |
p.S221= |
Synonymous |
6/18 |
- |
1 |
21-27394367-G-A |
c.663-9C>T |
- |
IntronicSNV |
- |
5/17 |
1 |
21-27394367-G-T |
c.663-9C>A |
- |
IntronicSNV |
- |
5/17 |
1 |
21-27394427-G-A |
c.663-69C>T |
- |
IntronicSNV |
- |
5/17 |
1 |
21-27394468-A-G |
c.663-110T>C |
- |
IntronicSNV |
- |
5/17 |
1 |
21-27397380-T-C |
c.663-3022A>G |
- |
IntronicSNV |
- |
5/17 |
1 |
21-27397607-A-G |
c.663-3249T>C |
- |
IntronicSNV |
- |
5/17 |
2 |
21-27399442-T-C |
c.663-5084A>G |
- |
IntronicSNV |
- |
5/17 |
1 |
21-27402273-A-G |
c.663-7915T>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 |
21-27407770-C-G |
c.663-13412G>C |
- |
IntronicSNV |
- |
5/17 |
1 |
21-27407770-C-T |
c.663-13412G>A |
- |
IntronicSNV |
- |
5/17 |
1 |
21-27408020-G-A |
c.663-13662C>T |
- |
IntronicSNV |
- |
5/17 |
1 |
21-27410482-TA-T |
c.662+12833del |
- |
IntronicDeletion |
- |
5/17 |
1 |
21-27411256-G-C |
c.662+12060C>G |
- |
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 |
21-27414856-A-G |
c.662+8460T>C |
- |
IntronicSNV |
- |
5/17 |
1 |
21-27415337-C-T |
c.662+7979G>A |
- |
IntronicSNV |
- |
5/17 |
1 |
21-27416114-C-CT |
c.662+7201dup |
- |
IntronicInsertion |
- |
5/17 |
1 |
21-27417594-TA-T |
c.662+5721del |
- |
IntronicDeletion |
- |
5/17 |
1 |
21-27419070-G-A |
c.662+4246C>T |
- |
IntronicSNV |
- |
5/17 |
1 |
21-27423131-C-G |
c.662+185G>C |
- |
IntronicSNV |
- |
5/17 |
1 |
21-27423131-C-T |
c.662+185G>A |
- |
IntronicSNV |
- |
5/17 |
1 |
21-27423246-T-C |
c.662+70A>G |
- |
IntronicSNV |
- |
5/17 |
1 |
21-27423314-A-C |
c.662+2T>G |
- |
IntronicSNV |
- |
5/17 |
1 |
21-27423316-CT-GC |
c.661_662delinsGC |
p.S221A |
Missense |
5/18 |
- |
1 |
21-27423316-CT-TA |
c.661_662delinsTA |
p.S221Y |
Missense |
5/18 |
- |
1 |
21-27423319-C-T |
c.659G>A |
p.G220E |
Missense |
5/18 |
- |
1 |
21-27423320-C-G |
c.658G>C |
p.G220R |
Missense |
5/18 |
- |
1 |
21-27423321-A-C |
c.657T>G |
p.D219E |
Missense |
5/18 |
- |
1 |
21-27423321-A-G |
c.657T>C |
p.D219= |
Synonymous |
5/18 |
- |
1 |
21-27423322-T-G |
c.656A>C |
p.D219A |
Missense |
5/18 |
- |
1 |
21-27423323-C-T |
c.655G>A |
p.D219N |
Missense |
5/18 |
- |
2 |
21-27423324-TGC-ACA |
c.652_654delinsTGT |
p.A218C |
Missense |
5/18 |
- |
1 |
21-27423329-A-G |
c.649T>C |
p.Y217H |
Missense |
5/18 |
- |
1 |
21-27423330-G-T |
c.648C>A |
p.D216E |
Missense |
5/18 |
- |
1 |
21-27423333-TGT-ATA |
c.643_645delinsTAT |
p.T215Y |
Missense |
5/18 |
- |
2 |
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-A |
c.640G>T |
p.D214Y |
Missense |
5/18 |
- |
1 |
21-27423338-C-T |
c.640G>A |
p.D214N |
Missense |
5/18 |
- |
2 |
21-27423340-G-C |
c.638C>G |
p.A213G |
Missense |
5/18 |
- |
1 |
21-27423344-C-G |
c.634G>C |
p.G212R |
Missense |
5/18 |
- |
1 |
21-27423344-C-T |
c.634G>A |
p.G212R |
Missense |
5/18 |
- |
2 |
21-27423346-C-G |
c.632G>C |
p.G211A |
Missense |
5/18 |
- |
2 |
21-27423347-C-A |
c.631G>T |
p.G211C |
Missense |
5/18 |
- |
1 |
21-27423348-C-A |
c.630G>T |
p.W210C |
Missense |
5/18 |
- |
1 |
21-27423348-C-G |
c.630G>C |
p.W210C |
Missense |
5/18 |
- |
1 |
21-27423349-C-A |
c.629G>T |
p.W210L |
Missense |
5/18 |
- |
1 |
21-27423349-CA-GC |
c.628_629delinsGC |
p.W210A |
Missense |
5/18 |
- |
1 |
21-27423350-A-T |
c.628T>A |
p.W210R |
Missense |
5/18 |
- |
1 |
21-27423351-C-A |
c.627G>T |
p.W209C |
Missense |
5/18 |
- |
1 |
21-27423352-C-T |
c.626G>A |
p.W209* |
Nonsense |
5/18 |
- |
1 |
21-27423354-G-A |
c.624C>T |
p.V208= |
Synonymous |
5/18 |
- |
1 |
21-27423355-A-C |
c.623T>G |
p.V208G |
Missense |
5/18 |
- |
1 |
21-27423355-A-G |
c.623T>C |
p.V208A |
Missense |
5/18 |
- |
2 |
21-27423358-T-C |
c.620A>G |
p.D207G |
Missense |
5/18 |
- |
1 |
21-27423358-T-G |
c.620A>C |
p.D207A |
Missense |
5/18 |
- |
1 |
21-27423359-C-A |
c.619G>T |
p.D207Y |
Missense |
5/18 |
- |
2 |
21-27423359-C-T |
c.619G>A |
p.D207N |
Missense |
5/18 |
- |
1 |
21-27423360-C-A |
c.618G>T |
p.S206= |
Synonymous |
5/18 |
- |
1 |
21-27423360-C-G |
c.618G>C |
p.S206= |
Synonymous |
5/18 |
- |
1 |
21-27423360-C-T |
c.618G>A |
p.S206= |
Synonymous |
5/18 |
- |
1 |
21-27423361-G-A |
c.617C>T |
p.S206L |
Missense |
5/18 |
- |
3 |
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 |
21-27423373-T-C |
c.605A>G |
p.E202G |
Missense |
5/18 |
- |
1 |
21-27423374-C-T |
c.604G>A |
p.E202K |
Missense |
5/18 |
- |
2 |
21-27423375-C-A |
c.603G>T |
p.A201= |
Synonymous |
5/18 |
- |
1 |
21-27423375-C-G |
c.603G>C |
p.A201= |
Synonymous |
5/18 |
- |
1 |
21-27423375-C-T |
c.603G>A |
p.A201= |
Synonymous |
5/18 |
- |
2 |
21-27423376-G-A |
c.602C>T |
p.A201V |
Missense |
5/18 |
- |
9 |
21-27423378-A-G |
c.600T>C |
p.D200= |
Synonymous |
5/18 |
- |
1 |
21-27423379-T-C |
c.599A>G |
p.D200G |
Missense |
5/18 |
- |
1 |
21-27423382-G-A |
c.596C>T |
p.A199V |
Missense |
5/18 |
- |
4 |
21-27423385-G-A |
c.593C>T |
p.S198F |
Missense |
5/18 |
- |
1 |
21-27423386-A-G |
c.592T>C |
p.S198P |
Missense |
5/18 |
- |
8 |
21-27423386-A-T |
c.592T>A |
p.S198T |
Missense |
5/18 |
- |
1 |
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 |
21-27423391-A-G |
c.587T>C |
p.V196A |
Missense |
5/18 |
- |
3 |
21-27423392-C-T |
c.586G>A |
p.V196M |
Missense |
5/18 |
- |
1 |
21-27423397-T-C |
c.581A>G |
p.D194G |
Missense |
5/18 |
- |
5 |
21-27423397-T-G |
c.581A>C |
p.D194A |
Missense |
5/18 |
- |
2 |
21-27423400-C-T |
c.578G>A |
p.S193N |
Missense |
5/18 |
- |
2 |
21-27423400-CT-GC |
c.577_578delinsGC |
p.S193A |
Missense |
5/18 |
- |
1 |
21-27423400-CT-GG |
c.577_578delinsCC |
p.S193P |
Missense |
5/18 |
- |
2 |
21-27423404-C-G |
c.574G>C |
p.E192Q |
Missense |
5/18 |
- |
1 |
21-27423404-C-T |
c.574G>A |
p.E192K |
Missense |
5/18 |
- |
2 |
21-27423405-T-G |
c.573A>C |
p.E191D |
Missense |
5/18 |
- |
2 |
21-27423406-T-G |
c.572A>C |
p.E191A |
Missense |
5/18 |
- |
1 |
21-27423407-C-G |
c.571G>C |
p.E191Q |
Missense |
5/18 |
- |
1 |
21-27423407-TCA-T |
c.570_571del |
p.E191Rfs*3 |
Frameshift |
5/18 |
- |
1 |
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 |
21-27423415-G-T |
c.563C>A |
p.P188Q |
Missense |
5/18 |
- |
1 |
21-27423418-C-G |
c.560G>C |
p.C187S |
Missense |
5/18 |
- |
1 |
21-27423419-A-T |
c.559T>A |
p.C187S |
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 |
- |
2 |
21-27423421-C-G |
c.557G>C |
p.C186S |
Missense |
5/18 |
- |
1 |
21-27423422-A-T |
c.556T>A |
p.C186S |
Missense |
5/18 |
- |
1 |
21-27423425-C-T |
c.553G>A |
p.V185M |
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 |
21-27423431-C-G |
c.547G>C |
p.E183Q |
Missense |
5/18 |
- |
1 |
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 |
21-27423434-C-T |
c.544G>A |
p.V182I |
Missense |
5/18 |
- |
1 |
21-27423439-CG-GC |
c.538_539delinsGC |
p.R180A |
Missense |
5/18 |
- |
1 |
21-27423439-C-T |
c.539G>A |
p.R180Q |
Missense |
5/18 |
- |
3 |
21-27423440-G-A |
c.538C>T |
p.R180* |
Nonsense |
5/18 |
- |
4 |
21-27423441-G-T |
c.537C>A |
p.F179L |
Missense |
5/18 |
- |
1 |
21-27423442-A-G |
c.536T>C |
p.F179S |
Missense |
5/18 |
- |
2 |
21-27423443-A-T |
c.535T>A |
p.F179I |
Missense |
5/18 |
- |
2 |
21-27423444-C-T |
c.534G>A |
p.K178= |
Synonymous |
5/18 |
- |
1 |
21-27423445-T-C |
c.533A>G |
p.K178R |
Missense |
5/18 |
- |
1 |
21-27423445-TT-GC |
c.532_533delinsGC |
p.K178A |
Missense |
5/18 |
- |
1 |
21-27423447-G-C |
c.531C>G |
p.D177E |
Missense |
5/18 |
- |
1 |
21-27423448-T-A |
c.530A>T |
p.D177V |
Missense |
5/18 |
- |
1 |
21-27423448-TC-AG |
c.529_530delinsCT |
p.D177L |
Missense |
5/18 |
- |
1 |
21-27423449-C-T |
c.529G>A |
p.D177N |
Missense |
5/18 |
- |
7 |
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 |
21-27423455-C-A |
c.523G>T |
p.G175* |
Nonsense |
5/18 |
- |
1 |
21-27423455-C-G |
c.523G>C |
p.G175R |
Missense |
5/18 |
- |
1 |
21-27423455-C-T |
c.523G>A |
p.G175R |
Missense |
5/18 |
- |
1 |
21-27423456-G-A |
c.522C>T |
p.C174= |
Synonymous |
5/18 |
- |
3 |
21-27423457-C-A |
c.521G>T |
p.C174F |
Missense |
5/18 |
- |
1 |
21-27423458-A-C |
c.520T>G |
p.C174G |
Missense |
5/18 |
- |
1 |
21-27423460-G-A |
c.518C>T |
p.P173L |
Missense |
5/18 |
- |
3 |
21-27423460-G-T |
c.518C>A |
p.P173H |
Missense |
5/18 |
- |
3 |
21-27423461-G-A |
c.517C>T |
p.P173S |
Missense |
5/18 |
- |
1 |
21-27423463-A-T |
c.515T>A |
p.L172Q |
Missense |
5/18 |
- |
1 |
21-27423464-G-A |
c.514C>T |
p.L172= |
Synonymous |
5/18 |
- |
1 |
21-27423466-AA-GG |
c.511_512delinsCC |
p.L171P |
Missense |
5/18 |
- |
2 |
21-27423468-CAT-GTC |
c.508_510delinsGAC |
p.M170D |
Missense |
5/18 |
- |
1 |
21-27423472-C-G |
c.506G>C |
p.G169A |
Missense |
5/18 |
- |
1 |
21-27423473-C-T |
c.505G>A |
p.G169S |
Missense |
5/18 |
- |
2 |
21-27423475-T-C |
c.503A>G |
p.Y168C |
Missense |
5/18 |
- |
2 |
21-27423478-T-C |
c.500A>G |
p.D167G |
Missense |
5/18 |
- |
2 |
21-27423479-C-T |
c.499G>A |
p.D167N |
Missense |
5/18 |
- |
1 |
21-27423480-A-G |
c.498T>C |
p.H166= |
Synonymous |
5/18 |
- |
1 |
21-27423481-T-C |
c.497A>G |
p.H166R |
Missense |
5/18 |
- |
4 |
21-27423482-G-A |
c.496C>T |
p.H166Y |
Missense |
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 |
21-27423486-AGT-A |
c.491_492del |
p.N164Ifs*3 |
Frameshift |
5/18 |
- |
1 |
21-27423487-T-A |
c.491A>T |
p.N164I |
Missense |
5/18 |
- |
1 |
21-27423488-T-C |
c.490A>G |
p.N164D |
Missense |
5/18 |
- |
1 |
21-27423489-G-A |
c.489C>T |
p.T163= |
Synonymous |
5/18 |
- |
1 |
21-27423489-G-C |
c.489C>G |
p.T163= |
Synonymous |
5/18 |
- |
1 |
21-27423489-GG-CA |
c.488_489delinsTG |
p.T163M |
Missense |
5/18 |
- |
1 |
21-27423489-G-T |
c.489C>A |
p.T163= |
Synonymous |
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 |
- |
2 |
21-27423495-C-G |
c.483G>C |
p.K161N |
Missense |
5/18 |
- |
2 |
21-27423499-T-G |
c.479A>C |
p.E160A |
Missense |
5/18 |
- |
1 |
21-27423500-C-T |
c.478G>A |
p.E160K |
Missense |
5/18 |
- |
2 |
21-27423503-T-C |
c.475A>G |
p.S159G |
Missense |
5/18 |
- |
2 |
21-27423504-G-A |
c.474C>T |
p.C158= |
Synonymous |
5/18 |
- |
1 |
21-27423505-C-T |
c.473G>A |
p.C158Y |
Missense |
5/18 |
- |
4 |
21-27423505-C-G |
c.473G>C |
p.C158S |
Missense |
5/18 |
- |
1 |
21-27423506-A-G |
c.472T>C |
p.C158R |
Missense |
5/18 |
- |
2 |
21-27423506-A-T |
c.472T>A |
p.C158S |
Missense |
5/18 |
- |
1 |
21-27423508-G-A |
c.470C>T |
p.T157I |
Missense |
5/18 |
- |
1 |
21-27423508-G-T |
c.470C>A |
p.T157K |
Missense |
5/18 |
- |
1 |
21-27423547-A-T |
c.469-38T>A |
- |
IntronicSNV |
- |
4/17 |
3 |
21-27423561-G-T |
c.469-52C>A |
- |
IntronicSNV |
- |
4/17 |
6 |
21-27423594-A-T |
c.469-85T>A |
- |
IntronicSNV |
- |
4/17 |
1 |
21-27423708-T-TAA |
c.469-200_469-199insTT |
- |
IntronicInsertion |
- |
4/17 |
2 |
21-27423709-G-A |
c.469-200C>T |
- |
IntronicSNV |
- |
4/17 |
1 |
21-27423710-T-A |
c.469-201A>T |
- |
IntronicSNV |
- |
4/17 |
1 |
21-27424038-T-C |
c.469-529A>G |
- |
IntronicSNV |
- |
4/17 |
1 |
21-27425323-C-T |
c.468+229G>A |
- |
IntronicSNV |
- |
4/17 |
2 |
21-27425368-C-T |
c.468+184G>A |
- |
IntronicSNV |
- |
4/17 |
1 |
21-27425421-T-C |
c.468+131A>G |
- |
IntronicSNV |
- |
4/17 |
1 |
21-27425501-G-A |
c.468+51C>T |
- |
IntronicSNV |
- |
4/17 |
1 |
21-27425549-T-C |
c.468+3A>G |
- |
IntronicSNV |
- |
4/17 |
1 |
21-27425550-A-G |
c.468+2T>C |
- |
IntronicSNV |
- |
4/17 |
1 |
21-27425553-CT-C |
c.467del |
p.E156Gfs*27 |
Frameshift |
4/18 |
- |
1 |
21-27425554-C-A |
c.466G>T |
p.E156* |
Nonsense |
4/18 |
- |
1 |
21-27425554-C-T |
c.466G>A |
p.E156K |
Missense |
4/18 |
- |
2 |
21-27425557-T-A |
c.463A>T |
p.K155* |
Nonsense |
4/18 |
- |
1 |
21-27425557-T-G |
c.463A>C |
p.K155Q |
Missense |
4/18 |
- |
1 |
21-27425558-G-A |
c.462C>T |
p.A154= |
Synonymous |
4/18 |
- |
1 |
21-27425558-G-C |
c.462C>G |
p.A154= |
Synonymous |
4/18 |
- |
1 |
21-27425558-G-T |
c.462C>A |
p.A154= |
Synonymous |
4/18 |
- |
1 |
21-27425559-G-A |
c.461C>T |
p.A154V |
Missense |
4/18 |
- |
1 |
21-27425559-G-GT |
c.460_461insA |
p.A154Dfs*7 |
Frameshift |
4/18 |
- |
1 |
21-27425560-C-T |
c.460G>A |
p.A154T |
Missense |
4/18 |
- |
2 |
21-27425561-G-A |
c.459C>T |
p.V153= |
Synonymous |
4/18 |
- |
1 |
21-27425561-G-C |
c.459C>G |
p.V153= |
Synonymous |
4/18 |
- |
1 |
21-27425561-G-T |
c.459C>A |
p.V153= |
Synonymous |
4/18 |
- |
1 |
21-27425563-C-A |
c.457G>T |
p.V153F |
Missense |
4/18 |
- |
1 |
21-27425563-C-G |
c.457G>C |
p.V153L |
Missense |
4/18 |
- |
1 |
21-27425563-C-T |
c.457G>A |
p.V153I |
Missense |
4/18 |
- |
5 |
21-27425564-G-A |
c.456C>T |
p.T152= |
Synonymous |
4/18 |
- |
3 |
21-27425564-G-C |
c.456C>G |
p.T152= |
Synonymous |
4/18 |
- |
2 |
21-27425564-GG-CA |
c.455_456delinsTG |
p.T152M |
Missense |
4/18 |
- |
1 |
21-27425564-GG-CT |
c.455_456delinsAG |
p.T152K |
Missense |
4/18 |
- |
1 |
21-27425564-G-T |
c.456C>A |
p.T152= |
Synonymous |
4/18 |
- |
2 |
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-A |
c.451C>T |
p.H151Y |
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 |
21-27425570-C-T |
c.450G>A |
p.W150* |
Nonsense |
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 |
21-27425571-C-T |
c.449G>A |
p.W150* |
Nonsense |
4/18 |
- |
2 |
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 |
- |
2 |
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 |
- |
5 |
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 |
21-27425578-G-A |
c.442C>T |
p.L148F |
Missense |
4/18 |
- |
1 |
21-27425578-G-T |
c.442C>A |
p.L148I |
Missense |
4/18 |
- |
1 |
21-27425579-A-C |
c.441T>G |
p.H147Q |
Missense |
4/18 |
- |
1 |
21-27425579-A-T |
c.441T>A |
p.H147Q |
Missense |
4/18 |
- |
1 |
21-27425580-TG-GC |
c.439_440delinsGC |
p.H147A |
Missense |
4/18 |
- |
1 |
21-27425581-G-A |
c.439C>T |
p.H147Y |
Missense |
4/18 |
- |
2 |
21-27425581-G-C |
c.439C>G |
p.H147D |
Missense |
4/18 |
- |
1 |
21-27425581-G-T |
c.439C>A |
p.H147N |
Missense |
4/18 |
- |
2 |
21-27425583-G-A |
c.437C>T |
p.T146I |
Missense |
4/18 |
- |
2 |
21-27425583-G-T |
c.437C>A |
p.T146N |
Missense |
4/18 |
- |
1 |
21-27425583-GT-CA |
c.436_437delinsTG |
p.T146C |
Missense |
4/18 |
- |
3 |
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 |
- |
3 |
21-27425587-C-T |
c.433G>A |
p.E145K |
Missense |
4/18 |
- |
3 |
21-27425588-G-A |
c.432C>T |
p.C144= |
Synonymous |
4/18 |
- |
5 |
21-27425591-A-C |
c.429T>G |
p.V143= |
Synonymous |
4/18 |
- |
1 |
21-27425591-A-G |
c.429T>C |
p.V143= |
Synonymous |
4/18 |
- |
1 |
21-27425591-AAC-A |
c.427_428del |
p.V143Lfs*17 |
Frameshift |
4/18 |
- |
1 |
21-27425593-C-T |
c.427G>A |
p.V143I |
Missense |
4/18 |
- |
1 |
21-27425594-A-T |
c.426T>A |
p.D142E |
Missense |
4/18 |
- |
1 |
21-27425595-T-C |
c.425A>G |
p.D142G |
Missense |
4/18 |
- |
2 |
21-27425595-T-G |
c.425A>C |
p.D142A |
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-C-G |
c.419G>C |
p.R140T |
Missense |
4/18 |
- |
1 |
21-27425601-CT-GC |
c.418_419delinsGC |
p.R140A |
Missense |
4/18 |
- |
2 |
21-27425601-CT-TG |
c.418_419delinsCA |
p.R140Q |
Missense |
4/18 |
- |
1 |
21-27425603-C-A |
c.417G>T |
p.E139D |
Missense |
4/18 |
- |
1 |
21-27425603-C-T |
c.417G>A |
p.E139= |
Synonymous |
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 |
- |
3 |
21-27425607-T-C |
c.413A>G |
p.Q138R |
Missense |
4/18 |
- |
2 |
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 |
21-27425611-G-A |
c.409C>T |
p.H137Y |
Missense |
4/18 |
- |
1 |
21-27425611-G-T |
c.409C>A |
p.H137N |
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 |
21-27425613-A-G |
c.407T>C |
p.L136S |
Missense |
4/18 |
- |
1 |
21-27425618-T-A |
c.402A>T |
p.K134N |
Missense |
4/18 |
- |
1 |
21-27425618-T-G |
c.402A>C |
p.K134N |
Missense |
4/18 |
- |
1 |
21-27425619-T-C |
c.401A>G |
p.K134R |
Missense |
4/18 |
- |
1 |
21-27425619-TT-GC |
c.400_401delinsGC |
p.K134A |
Missense |
4/18 |
- |
1 |
21-27425621-G-T |
c.399C>A |
p.C133* |
Nonsense |
4/18 |
- |
1 |
21-27425622-C-G |
c.398G>C |
p.C133S |
Missense |
4/18 |
- |
1 |
21-27425623-A-T |
c.397T>A |
p.C133S |
Missense |
4/18 |
- |
1 |
21-27425625-T-G |
c.395A>C |
p.K132T |
Missense |
4/18 |
- |
2 |
21-27425625-TT-GC |
c.394_395delinsGC |
p.K132A |
Missense |
4/18 |
- |
1 |
21-27425626-T-TAGATAAAGGAGCCTAATTCTA |
c.393_394insTAGAATTAGGCTCCTTTATCT |
p.D131_K132ins* |
Nonsense |
4/18 |
- |
1 |
21-27425628-T-G |
c.392A>C |
p.D131A |
Missense |
4/18 |
- |
2 |
21-27425628-T-TTAGCCTAAGA |
c.391_392insTCTTAGGCTA |
p.D131Vfs*4 |
Frameshift |
4/18 |
- |
1 |
21-27425629-C-G |
c.391G>C |
p.D131H |
Missense |
4/18 |
- |
2 |
21-27425629-C-T |
c.391G>A |
p.D131N |
Missense |
4/18 |
- |
1 |
21-27425630-A-C |
c.390T>G |
p.P130= |
Synonymous |
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 |
- |
4 |
21-27425632-G-A |
c.388C>T |
p.P130S |
Missense |
4/18 |
- |
3 |
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 |
21-27425634-A-G |
c.386T>C |
p.V129A |
Missense |
4/18 |
- |
1 |
21-27425636-G-A |
c.384C>T |
p.L128= |
Synonymous |
4/18 |
- |
2 |
21-27425636-G-C |
c.384C>G |
p.L128= |
Synonymous |
4/18 |
- |
1 |
21-27425636-G-T |
c.384C>A |
p.L128= |
Synonymous |
4/18 |
- |
1 |
21-27425639-GAA-G |
c.380_381del |
p.L127Pfs*4 |
Frameshift |
4/18 |
- |
1 |
21-27425640-AG-CT |
c.379_380inv |
p.L127S |
Missense |
4/18 |
- |
1 |
21-27425643-G-A |
c.377C>T |
p.A126V |
Missense |
4/18 |
- |
2 |
21-27425644-C-T |
c.376G>A |
p.A126T |
Missense |
4/18 |
- |
1 |
21-27425647-C-A |
c.373G>T |
p.D125Y |
Missense |
4/18 |
- |
1 |
21-27425650-T-C |
c.370A>G |
p.S124G |
Missense |
4/18 |
- |
1 |
21-27425657-C-A |
c.363G>T |
p.E121D |
Missense |
4/18 |
- |
3 |
21-27425657-C-G |
c.363G>C |
p.E121D |
Missense |
4/18 |
- |
2 |
21-27425658-T-G |
c.362A>C |
p.E121A |
Missense |
4/18 |
- |
1 |
21-27425660-A-ATCTC |
c.359_360insGAGA |
p.E121Rfs*2 |
Frameshift |
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 |
21-27425661-C-G |
c.359G>C |
p.G120A |
Missense |
4/18 |
- |
2 |
21-27425662-C-G |
c.358G>C |
p.G120R |
Missense |
4/18 |
- |
2 |
21-27425664-A-G |
c.356T>C |
p.V119A |
Missense |
4/18 |
- |
1 |
21-27425664-A-T |
c.356T>A |
p.V119D |
Missense |
4/18 |
- |
1 |
21-27425685-T-C |
c.356-21A>G |
- |
IntronicSNV |
- |
3/17 |
1 |
21-27425685-T-G |
c.356-21A>C |
- |
IntronicSNV |
- |
3/17 |
1 |
21-27425742-T-C |
c.356-78A>G |
- |
IntronicSNV |
- |
3/17 |
1 |
21-27425859-G-C |
c.356-195C>G |
- |
IntronicSNV |
- |
3/17 |
1 |
21-27427248-G-T |
c.356-1584C>A |
- |
IntronicSNV |
- |
3/17 |
2 |
21-27427592-C-T |
c.356-1928G>A |
- |
IntronicSNV |
- |
3/17 |
1 |
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 |
21-27433700-A-G |
c.356-8036T>C |
- |
IntronicSNV |
- |
3/17 |
1 |
21-27433700-A-T |
c.356-8036T>A |
- |
IntronicSNV |
- |
3/17 |
1 |
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 |
4 |
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 |
21-27451437-A-T |
c.355+10822T>A |
- |
IntronicSNV |
- |
3/17 |
1 |
21-27454995-T-C |
c.355+7264A>G |
- |
IntronicSNV |
- |
3/17 |
2 |
21-27456839-G-GC |
c.355+5419dup |
- |
IntronicInsertion |
- |
3/17 |
1 |
21-27456856-A-AG |
c.355+5402dup |
- |
IntronicInsertion |
- |
3/17 |
1 |
21-27457518-C-A |
c.355+4741G>T |
- |
IntronicSNV |
- |
3/17 |
1 |
21-27458409-A-G |
c.355+3850T>C |
- |
IntronicSNV |
- |
3/17 |
3 |
21-27459101-T-A |
c.355+3158A>T |
- |
IntronicSNV |
- |
3/17 |
1 |
21-27459101-T-C |
c.355+3158A>G |
- |
IntronicSNV |
- |
3/17 |
1 |
21-27459674-C-G |
c.355+2585G>C |
- |
IntronicSNV |
- |
3/17 |
2 |
21-27459674-C-T |
c.355+2585G>A |
- |
IntronicSNV |
- |
3/17 |
2 |
21-27462096-C-T |
c.355+163G>A |
- |
IntronicSNV |
- |
3/17 |
1 |
21-27462209-C-T |
c.355+50G>A |
- |
IntronicSNV |
- |
3/17 |
1 |
21-27462212-A-G |
c.355+47T>C |
- |
IntronicSNV |
- |
3/17 |
1 |
21-27462261-A-G |
c.353T>C |
p.L118S |
Missense |
3/18 |
- |
1 |
21-27462263-G-T |
c.351C>A |
p.C117* |
Nonsense |
3/18 |
- |
1 |
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 |
21-27462267-C-T |
c.347G>A |
p.R116H |
Missense |
3/18 |
- |
1 |
21-27462267-GC-G |
c.347del |
p.R116Pfs*3 |
Frameshift |
3/18 |
- |
1 |
21-27462268-G-A |
c.346C>T |
p.R116C |
Missense |
3/18 |
- |
3 |
21-27462270-T-C |
c.344A>G |
p.Y115C |
Missense |
3/18 |
- |
5 |
21-27462271-A-G |
c.343T>C |
p.Y115H |
Missense |
3/18 |
- |
2 |
21-27462274-G-A |
c.340C>T |
p.P114S |
Missense |
3/18 |
- |
5 |
21-27462274-G-C |
c.340C>G |
p.P114A |
Missense |
3/18 |
- |
1 |
21-27462276-A-G |
c.338T>C |
p.I113T |
Missense |
3/18 |
- |
3 |
21-27462278-CAC-GAT |
c.334_336delinsATC |
p.V112I |
Missense |
3/18 |
- |
1 |
21-27462279-A-G |
c.335T>C |
p.V112A |
Missense |
3/18 |
- |
1 |
21-27462280-C-T |
c.334G>A |
p.V112M |
Missense |
3/18 |
- |
2 |
21-27462282-A-C |
c.332T>G |
p.F111C |
Missense |
3/18 |
- |
2 |
21-27462283-A-C |
c.331T>G |
p.F111V |
Missense |
3/18 |
- |
1 |
21-27462283-A-G |
c.331T>C |
p.F111L |
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 |
- |
4 |
21-27462286-G-T |
c.328C>A |
p.H110N |
Missense |
3/18 |
- |
1 |
21-27462289-G-A |
c.325C>T |
p.P109S |
Missense |
3/18 |
- |
1 |
21-27462288-GGAT-G |
c.323_325del |
p.H108del |
InFrameDeletion |
3/18 |
- |
1 |
21-27462296-C-A |
c.318G>T |
p.K106N |
Missense |
3/18 |
- |
2 |
21-27462296-C-G |
c.318G>C |
p.K106N |
Missense |
3/18 |
- |
1 |
21-27462299-G-A |
c.315C>T |
p.C105= |
Synonymous |
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-G |
c.313T>C |
p.C105R |
Missense |
3/18 |
- |
1 |
21-27462301-A-T |
c.313T>A |
p.C105S |
Missense |
3/18 |
- |
1 |
21-27462302-C-A |
c.312G>T |
p.Q104H |
Missense |
3/18 |
- |
1 |
21-27462306-T-C |
c.308A>G |
p.K103R |
Missense |
3/18 |
- |
1 |
21-27462307-T-G |
c.307A>C |
p.K103Q |
Missense |
3/18 |
- |
1 |
21-27462309-C-G |
c.305G>C |
p.R102P |
Missense |
3/18 |
- |
2 |
21-27462309-CG-GC |
c.304_305delinsGC |
p.R102A |
Missense |
3/18 |
- |
1 |
21-27462310-G-A |
c.304C>T |
p.R102C |
Missense |
3/18 |
- |
2 |
21-27462310-G-C |
c.304C>G |
p.R102G |
Missense |
3/18 |
- |
1 |
21-27462310-G-T |
c.304C>A |
p.R102S |
Missense |
3/18 |
- |
1 |
21-27462312-C-A |
c.302G>T |
p.G101V |
Missense |
3/18 |
- |
4 |
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-C-G |
c.299G>C |
p.R100P |
Missense |
3/18 |
- |
2 |
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 |
21-27462315-C-T |
c.299G>A |
p.R100Q |
Missense |
3/18 |
- |
2 |
21-27462316-G-A |
c.298C>T |
p.R100W |
Missense |
3/18 |
- |
8 |
21-27462318-T-C |
c.296A>G |
p.K99R |
Missense |
3/18 |
- |
1 |
21-27462319-T-C |
c.295A>G |
p.K99E |
Missense |
3/18 |
- |
1 |
21-27462320-G-A |
c.294C>T |
p.C98= |
Synonymous |
3/18 |
- |
1 |
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 |
21-27462326-G-A |
c.288C>T |
p.N96= |
Synonymous |
3/18 |
- |
1 |
21-27462327-TT-GC |
c.286_287delinsGC |
p.N96A |
Missense |
3/18 |
- |
1 |
21-27462334-T-G |
c.280A>C |
p.I94L |
Missense |
3/18 |
- |
1 |
21-27462335-G-A |
c.279C>T |
p.T93= |
Synonymous |
3/18 |
- |
1 |
21-27462335-GG-CA |
c.278_279delinsTG |
p.T93M |
Missense |
3/18 |
- |
1 |
21-27462336-G-A |
c.278C>T |
p.T93I |
Missense |
3/18 |
- |
1 |
21-27462337-T-G |
c.277A>C |
p.T93P |
Missense |
3/18 |
- |
1 |
21-27462340-C-T |
c.274G>A |
p.V92M |
Missense |
3/18 |
- |
1 |
21-27462341-T-A |
c.273A>T |
p.P91= |
Synonymous |
3/18 |
- |
1 |
21-27462341-T-C |
c.273A>G |
p.P91= |
Synonymous |
3/18 |
- |
1 |
21-27462341-T-G |
c.273A>C |
p.P91= |
Synonymous |
3/18 |
- |
1 |
21-27462342-G-A |
c.272C>T |
p.P91L |
Missense |
3/18 |
- |
2 |
21-27462343-G-A |
c.271C>T |
p.P91S |
Missense |
3/18 |
- |
1 |
21-27462344-T-C |
c.270A>G |
p.Q90= |
Synonymous |
3/18 |
- |
2 |
21-27462345-T-C |
c.269A>G |
p.Q90R |
Missense |
3/18 |
- |
3 |
21-27462346-G-A |
c.268C>T |
p.Q90* |
Nonsense |
3/18 |
- |
1 |
21-27462347-G-A |
c.267C>T |
p.N89= |
Synonymous |
3/18 |
- |
1 |
21-27462350-G-A |
c.264C>T |
p.A88= |
Synonymous |
3/18 |
- |
1 |
21-27462350-G-C |
c.264C>G |
p.A88= |
Synonymous |
3/18 |
- |
1 |
21-27462350-G-T |
c.264C>A |
p.A88= |
Synonymous |
3/18 |
- |
1 |
21-27462351-G-T |
c.263C>A |
p.A88D |
Missense |
3/18 |
- |
1 |
21-27462352-C-T |
c.262G>A |
p.A88T |
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 |
21-27462363-T-C |
c.251A>G |
p.N84S |
Missense |
3/18 |
- |
1 |
21-27462366-GGTGATC-G |
c.243_248del |
p.Q81_T83delinsH |
MultiAAMissense |
3/18 |
- |
1 |
21-27462368-G-A |
c.246C>T |
p.I82= |
Synonymous |
3/18 |
- |
1 |
21-27462368-G-C |
c.246C>G |
p.I82M |
Missense |
3/18 |
- |
1 |
21-27462371-C-A |
c.243G>T |
p.Q81H |
Missense |
3/18 |
- |
1 |
21-27462371-C-G |
c.243G>C |
p.Q81H |
Missense |
3/18 |
- |
1 |
21-27462372-T-A |
c.242A>T |
p.Q81L |
Missense |
3/18 |
- |
1 |
21-27462372-TG-GC |
c.241_242delinsGC |
p.Q81A |
Missense |
3/18 |
- |
1 |
21-27462374-C-A |
c.240G>T |
p.L80= |
Synonymous |
3/18 |
- |
1 |
21-27462379-C-T |
c.235G>A |
p.E79K |
Missense |
3/18 |
- |
1 |
21-27462380-A-C |
c.234T>G |
p.P78= |
Synonymous |
3/18 |
- |
1 |
21-27462380-A-G |
c.234T>C |
p.P78= |
Synonymous |
3/18 |
- |
1 |
21-27462380-A-T |
c.234T>A |
p.P78= |
Synonymous |
3/18 |
- |
1 |
21-27462381-G-C |
c.233C>G |
p.P78R |
Missense |
3/18 |
- |
1 |
21-27462382-G-T |
c.232C>A |
p.P78T |
Missense |
3/18 |
- |
1 |
21-27462384-T-C |
c.230A>G |
p.Y77C |
Missense |
3/18 |
- |
1 |
21-27462385-A-G |
c.229T>C |
p.Y77H |
Missense |
3/18 |
- |
1 |
21-27462388-C-T |
c.226G>A |
p.V76I |
Missense |
3/18 |
- |
5 |
21-27462412-C-A |
c.226-24G>T |
- |
IntronicSNV |
- |
2/17 |
1 |
21-27462412-C-G |
c.226-24G>C |
- |
IntronicSNV |
- |
2/17 |
1 |
21-27462422-T-C |
c.226-34A>G |
- |
IntronicSNV |
- |
2/17 |
2 |
21-27462727-A-C |
c.226-339T>G |
- |
IntronicSNV |
- |
2/17 |
1 |
21-27464270-A-G |
c.226-1882T>C |
- |
IntronicSNV |
- |
2/17 |
2 |
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 |
3 |
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 |
5 |
21-27473875-C-T |
c.225+10421G>A |
- |
IntronicSNV |
- |
2/17 |
5 |
21-27475811-A-C |
c.225+8485T>G |
- |
IntronicSNV |
- |
2/17 |
1 |
21-27476104-G-T |
c.225+8192C>A |
- |
IntronicSNV |
- |
2/17 |
6 |
21-27476634-A-G |
c.225+7662T>C |
- |
IntronicSNV |
- |
2/17 |
1 |
21-27481317-T-G |
c.225+2979A>C |
- |
IntronicSNV |
- |
2/17 |
1 |
21-27481343-A-C |
c.225+2953T>G |
- |
IntronicSNV |
- |
2/17 |
1 |
21-27484099-G-A |
c.225+197C>T |
- |
IntronicSNV |
- |
2/17 |
1 |
21-27484217-C-T |
c.225+79G>A |
- |
IntronicSNV |
- |
2/17 |
1 |
21-27484284-G-C |
c.225+12C>G |
- |
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 |
21-27484300-T-A |
c.221A>T |
p.Q74L |
Missense |
2/18 |
- |
1 |
21-27484306-T-C |
c.215A>G |
p.Y72C |
Missense |
2/18 |
- |
2 |
21-27484308-C-T |
c.213G>A |
p.Q71= |
Synonymous |
2/18 |
- |
1 |
21-27484309-T-A |
c.212A>T |
p.Q71L |
Missense |
2/18 |
- |
4 |
21-27484309-T-C |
c.212A>G |
p.Q71R |
Missense |
2/18 |
- |
1 |
21-27484310-G-A |
c.211C>T |
p.Q71* |
Nonsense |
2/18 |
- |
1 |
21-27484310-G-GTTCTTGGCAATACTGCAGGATGCCTTCCTTGGTATCAATGCAGGTTTTGGTCCCTGATGGATCTGAATCCCA |
c.210_211insTGGGATTCAGATCCATCAGGGACCAAAACCTGCATTGATACCAAGGAAGGCATCCTGCAGTATTGCCAAGAA |
p.L70_Q71insWDSDPSGTKTCIDTKEGILQYCQE |
InFrameInsertion |
2/18 |
- |
1 |
21-27484311-C-A |
c.210G>T |
p.L70= |
Synonymous |
2/18 |
- |
1 |
21-27484311-C-G |
c.210G>C |
p.L70= |
Synonymous |
2/18 |
- |
1 |
21-27484311-C-T |
c.210G>A |
p.L70= |
Synonymous |
2/18 |
- |
1 |
21-27484313-G-A |
c.208C>T |
p.L70= |
Synonymous |
2/18 |
- |
1 |
21-27484316-T-C |
c.205A>G |
p.I69V |
Missense |
2/18 |
- |
1 |
21-27484317-G-T |
c.204C>A |
p.G68= |
Synonymous |
2/18 |
- |
1 |
21-27484318-CC-AT |
c.202_203delinsAT |
p.G68I |
Missense |
2/18 |
- |
1 |
21-27484318-C-G |
c.203G>C |
p.G68A |
Missense |
2/18 |
- |
2 |
21-27484319-C-A |
c.202G>T |
p.G68C |
Missense |
2/18 |
- |
1 |
21-27484319-C-G |
c.202G>C |
p.G68R |
Missense |
2/18 |
- |
1 |
21-27484321-T-G |
c.200A>C |
p.E67A |
Missense |
2/18 |
- |
1 |
21-27484322-C-T |
c.199G>A |
p.E67K |
Missense |
2/18 |
- |
1 |
21-27484325-T-C |
c.196A>G |
p.K66E |
Missense |
2/18 |
- |
1 |
21-27484327-G-C |
c.194C>G |
p.T65S |
Missense |
2/18 |
- |
2 |
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 |
- |
2 |
21-27484328-T-C |
c.193A>G |
p.T65A |
Missense |
2/18 |
- |
2 |
21-27484329-A-G |
c.192T>C |
p.D64= |
Synonymous |
2/18 |
- |
1 |
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-A |
c.186C>T |
p.C62= |
Synonymous |
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 |
- |
2 |
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 |
- |
2 |
21-27484338-GG-CA |
c.182_183delinsTG |
p.T61M |
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 |
- |
4 |
21-27484347-CCC-GCT |
c.172_174delinsAGC |
p.G58S |
Missense |
2/18 |
- |
1 |
21-27484347-C-G |
c.174G>C |
p.G58= |
Synonymous |
2/18 |
- |
1 |
21-27484348-C-A |
c.173G>T |
p.G58V |
Missense |
2/18 |
- |
1 |
21-27484348-CC-TA |
c.172_173delinsTA |
p.G58* |
Nonsense |
2/18 |
- |
1 |
21-27484348-C-T |
c.173G>A |
p.G58E |
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 |
- |
2 |
21-27484352-A-G |
c.169T>C |
p.S57P |
Missense |
2/18 |
- |
2 |
21-27484357-TC-AA |
c.163_164delinsTT |
p.D55F |
Missense |
2/18 |
- |
1 |
21-27484359-T-A |
c.162A>T |
p.S54= |
Synonymous |
2/18 |
- |
1 |
21-27484359-T-C |
c.162A>G |
p.S54= |
Synonymous |
2/18 |
- |
1 |
21-27484359-T-G |
c.162A>C |
p.S54= |
Synonymous |
2/18 |
- |
1 |
21-27484360-G-A |
c.161C>T |
p.S54L |
Missense |
2/18 |
- |
1 |
21-27484361-A-T |
c.160T>A |
p.S54T |
Missense |
2/18 |
- |
1 |
21-27484362-A-C |
c.159T>G |
p.D53E |
Missense |
2/18 |
- |
2 |
21-27484362-A-T |
c.159T>A |
p.D53E |
Missense |
2/18 |
- |
2 |
21-27484362-ATC-CAT |
c.157_159delinsATG |
p.D53M |
Missense |
2/18 |
- |
1 |
21-27484362-ATC-CCA |
c.157_159delinsTGG |
p.D53W |
Missense |
2/18 |
- |
1 |
21-27484362-ATC-CTT |
c.157_159delinsAAG |
p.D53K |
Missense |
2/18 |
- |
1 |
21-27484362-ATC-TTA |
c.157_159delinsTAA |
p.D53* |
Nonsense |
2/18 |
- |
2 |
21-27484362-ATC-TTG |
c.157_159delinsCAA |
p.D53Q |
Missense |
2/18 |
- |
1 |
21-27484363-T-A |
c.158A>T |
p.D53V |
Missense |
2/18 |
- |
1 |
21-27484363-T-C |
c.158A>G |
p.D53G |
Missense |
2/18 |
- |
1 |
21-27484363-TC-AA |
c.157_158delinsTT |
p.D53F |
Missense |
2/18 |
- |
1 |
21-27484363-TC-AG |
c.157_158delinsCT |
p.D53L |
Missense |
2/18 |
- |
1 |
21-27484363-TC-AT |
c.157_158delinsAT |
p.D53I |
Missense |
2/18 |
- |
1 |
21-27484363-TC-CA |
c.157_158delinsTG |
p.D53C |
Missense |
2/18 |
- |
1 |
21-27484363-TC-CG |
c.157_158delinsCG |
p.D53R |
Missense |
2/18 |
- |
1 |
21-27484363-TC-CT |
c.157_158delinsAG |
p.D53S |
Missense |
2/18 |
- |
1 |
21-27484363-TC-GG |
c.157_158delinsCC |
p.D53P |
Missense |
2/18 |
- |
1 |
21-27484363-TC-GT |
c.157_158delinsAC |
p.D53T |
Missense |
2/18 |
- |
1 |
21-27484363-T-G |
c.158A>C |
p.D53A |
Missense |
2/18 |
- |
1 |
21-27484364-C-A |
c.157G>T |
p.D53Y |
Missense |
2/18 |
- |
1 |
21-27484364-C-G |
c.157G>C |
p.D53H |
Missense |
2/18 |
- |
1 |
21-27484364-C-T |
c.157G>A |
p.D53N |
Missense |
2/18 |
- |
1 |
21-27484365-C-T |
c.156G>A |
p.W52* |
Nonsense |
2/18 |
- |
1 |
21-27484366-C-A |
c.155G>T |
p.W52L |
Missense |
2/18 |
- |
2 |
21-27484369-T-G |
c.152A>C |
p.K51T |
Missense |
2/18 |
- |
1 |
21-27484371-CCC-GCT |
c.148_150delinsAGC |
p.G50S |
Missense |
2/18 |
- |
1 |
21-27484373-C-T |
c.148G>A |
p.G50R |
Missense |
2/18 |
- |
1 |
21-27484374-A-C |
c.147T>G |
p.N49K |
Missense |
2/18 |
- |
1 |
21-27484374-A-T |
c.147T>A |
p.N49K |
Missense |
2/18 |
- |
1 |
21-27484378-T-C |
c.143A>G |
p.Q48R |
Missense |
2/18 |
- |
1 |
21-27484379-G-A |
c.142C>T |
p.Q48* |
Nonsense |
2/18 |
- |
1 |
21-27484382-C-G |
c.139G>C |
p.V47L |
Missense |
2/18 |
- |
1 |
21-27484384-T-C |
c.137A>G |
p.N46S |
Missense |
2/18 |
- |
1 |
21-27484385-T-C |
c.136A>G |
p.N46D |
Missense |
2/18 |
- |
2 |
21-27484388-T-A |
c.133A>T |
p.M45L |
Missense |
2/18 |
- |
1 |
21-27484388-T-G |
c.133A>C |
p.M45L |
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 |
21-27484393-AT-GC |
c.127_128delinsGC |
p.M43A |
Missense |
2/18 |
- |
3 |
21-27484394-T-A |
c.127A>T |
p.M43L |
Missense |
2/18 |
- |
1 |
21-27484395-GTT-TTG |
c.124_126delinsCAA |
p.N42Q |
Missense |
2/18 |
- |
1 |
21-27484397-T-G |
c.124A>C |
p.N42H |
Missense |
2/18 |
- |
4 |
21-27484399-A-G |
c.122T>C |
p.L41P |
Missense |
2/18 |
- |
2 |
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 |
- |
2 |
21-27484402-CT-AG |
c.118_119inv |
p.R40L |
Missense |
2/18 |
- |
1 |
21-27484403-T-A |
c.118A>T |
p.R40* |
Nonsense |
2/18 |
- |
1 |
21-27484403-T-C |
c.118A>G |
p.R40G |
Missense |
2/18 |
- |
1 |
21-27484404-GC-CT |
c.116_117delinsAG |
p.G39E |
Missense |
2/18 |
- |
1 |
21-27484405-C-G |
c.116G>C |
p.G39A |
Missense |
2/18 |
- |
3 |
21-27484406-C-A |
c.115G>T |
p.G39C |
Missense |
2/18 |
- |
1 |
21-27484406-C-T |
c.115G>A |
p.G39S |
Missense |
2/18 |
- |
1 |
21-27484407-A-G |
c.114T>C |
p.C38= |
Synonymous |
2/18 |
- |
1 |
21-27484408-CA-GC |
c.112_113delinsGC |
p.C38A |
Missense |
2/18 |
- |
1 |
21-27484408-CA-TC |
c.112_113delinsGA |
p.C38D |
Missense |
2/18 |
- |
2 |
21-27484408-CA-TG |
c.112_113inv |
p.C38H |
Missense |
2/18 |
- |
1 |
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-CC |
c.109_110delinsGG |
p.F37G |
Missense |
2/18 |
- |
1 |
21-27484411-AA-GC |
c.109_110delinsGC |
p.F37A |
Missense |
2/18 |
- |
2 |
21-27484412-A-C |
c.109T>G |
p.F37V |
Missense |
2/18 |
- |
1 |
21-27484413-C-A |
c.108G>T |
p.M36I |
Missense |
2/18 |
- |
2 |
21-27484413-C-G |
c.108G>C |
p.M36I |
Missense |
2/18 |
- |
2 |
21-27484413-C-T |
c.108G>A |
p.M36I |
Missense |
2/18 |
- |
2 |
21-27484414-AT-TA |
c.106_107delinsTA |
p.M36* |
Nonsense |
2/18 |
- |
1 |
21-27484417-G-A |
c.104C>T |
p.A35V |
Missense |
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 |
- |
3 |
21-27484421-T-C |
c.100A>G |
p.I34V |
Missense |
2/18 |
- |
6 |
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 |
21-27484425-GGG-TTA |
c.94_96delinsTAA |
p.P32* |
Nonsense |
2/18 |
- |
1 |
21-27484426-G-A |
c.95C>T |
p.P32L |
Missense |
2/18 |
- |
3 |
21-27484427-G-T |
c.94C>A |
p.P32T |
Missense |
2/18 |
- |
1 |
21-27484428-T-C |
c.93A>G |
p.E31= |
Synonymous |
2/18 |
- |
1 |
21-27484430-C-G |
c.91G>C |
p.E31Q |
Missense |
2/18 |
- |
1 |
21-27484430-C-T |
c.91G>A |
p.E31K |
Missense |
2/18 |
- |
1 |
21-27484431-A-C |
c.90T>G |
p.A30= |
Synonymous |
2/18 |
- |
1 |
21-27484431-A-G |
c.90T>C |
p.A30= |
Synonymous |
2/18 |
- |
1 |
21-27484431-AGC-CCA |
c.88_90delinsTGG |
p.A30W |
Missense |
2/18 |
- |
1 |
21-27484431-AG-CT |
c.89_90inv |
p.A30E |
Missense |
2/18 |
- |
3 |
21-27484431-AGC-TTA |
c.88_90delinsTAA |
p.A30* |
Nonsense |
2/18 |
- |
1 |
21-27484431-A-T |
c.90T>A |
p.A30= |
Synonymous |
2/18 |
- |
1 |
21-27484432-G-C |
c.89C>G |
p.A30G |
Missense |
2/18 |
- |
2 |
21-27484432-GC-AT |
c.88_89delinsAT |
p.A30I |
Missense |
2/18 |
- |
1 |
21-27484432-GC-CA |
c.88_89delinsTG |
p.A30C |
Missense |
2/18 |
- |
2 |
21-27484432-GC-CG |
c.88_89delinsCG |
p.A30R |
Missense |
2/18 |
- |
1 |
21-27484432-GC-TA |
c.88_89delinsTA |
p.A30Y |
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 |
- |
162 |
21-27484433-C-T |
c.88G>A |
p.A30T |
Missense |
2/18 |
- |
1 |
21-27484434-C-A |
c.87G>T |
p.L29= |
Synonymous |
2/18 |
- |
1 |
21-27484434-C-G |
c.87G>C |
p.L29= |
Synonymous |
2/18 |
- |
1 |
21-27484434-C-T |
c.87G>A |
p.L29= |
Synonymous |
2/18 |
- |
1 |
21-27484436-G-A |
c.85C>T |
p.L29= |
Synonymous |
2/18 |
- |
1 |
21-27484437-C-A |
c.84G>T |
p.L28= |
Synonymous |
2/18 |
- |
2 |
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 |
- |
6 |
21-27484438-AG-CC |
c.82_83delinsGG |
p.L28G |
Missense |
2/18 |
- |
1 |
21-27484438-CA-C |
c.83del |
p.L28Rfs*14 |
Frameshift |
2/18 |
- |
1 |
21-27484439-G-C |
c.82C>G |
p.L28V |
Missense |
2/18 |
- |
1 |
21-27484440-GC-CT |
c.80_81delinsAG |
p.G27E |
Missense |
2/18 |
- |
1 |
21-27484443-AGC-CAT |
c.76_78delinsATG |
p.A26M |
Missense |
2/18 |
- |
1 |
21-27484443-AG-CT |
c.77_78inv |
p.A26E |
Missense |
2/18 |
- |
2 |
21-27484443-AGC-TTA |
c.76_78delinsTAA |
p.A26* |
Nonsense |
2/18 |
- |
2 |
21-27484444-G-C |
c.77C>G |
p.A26G |
Missense |
2/18 |
- |
6 |
21-27484444-GC-AA |
c.76_77delinsTT |
p.A26F |
Missense |
2/18 |
- |
1 |
21-27484444-GC-CA |
c.76_77delinsTG |
p.A26C |
Missense |
2/18 |
- |
2 |
21-27484444-GC-TA |
c.76_77delinsTA |
p.A26Y |
Missense |
2/18 |
- |
1 |
21-27484444-GC-TT |
c.76_77delinsAA |
p.A26N |
Missense |
2/18 |
- |
1 |
21-27484447-T-A |
c.74A>T |
p.N25I |
Missense |
2/18 |
- |
1 |
21-27484449-ACC-TCA |
c.70_72delinsTGA |
p.G24* |
Nonsense |
2/18 |
- |
1 |
21-27484449-TA-T |
c.72del |
p.N25Mfs*17 |
Frameshift |
2/18 |
- |
1 |
21-27484450-C-T |
c.71G>A |
p.G24D |
Missense |
2/18 |
- |
1 |
21-27484452-ATC-CTT |
c.67_69delinsAAG |
p.D23K |
Missense |
2/18 |
- |
5 |
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 |
- |
3 |
21-27484454-C-T |
c.67G>A |
p.D23N |
Missense |
2/18 |
- |
107 |
21-27484456-G-T |
c.65C>A |
p.T22N |
Missense |
2/18 |
- |
7 |
21-27484457-T-G |
c.64A>C |
p.T22P |
Missense |
2/18 |
- |
1 |
21-27484458-G-A |
c.63C>T |
p.P21= |
Synonymous |
2/18 |
- |
1 |
21-27484458-G-C |
c.63C>G |
p.P21= |
Synonymous |
2/18 |
- |
1 |
21-27484458-GGG-CCA |
c.61_63delinsTGG |
p.P21W |
Missense |
2/18 |
- |
1 |
21-27484458-GGG-TTA |
c.61_63delinsTAA |
p.P21* |
Nonsense |
2/18 |
- |
1 |
21-27484458-G-T |
c.63C>A |
p.P21= |
Synonymous |
2/18 |
- |
1 |
21-27484459-G-A |
c.62C>T |
p.P21L |
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 |
- |
3 |
21-27484461-T-A |
c.60A>T |
p.V20= |
Synonymous |
2/18 |
- |
1 |
21-27484461-TAC-ACA |
c.58_60delinsTGT |
p.V20C |
Missense |
2/18 |
- |
1 |
21-27484461-T-C |
c.60A>G |
p.V20= |
Synonymous |
2/18 |
- |
1 |
21-27484461-T-G |
c.60A>C |
p.V20= |
Synonymous |
2/18 |
- |
1 |
21-27484462-A-G |
c.59T>C |
p.V20A |
Missense |
2/18 |
- |
1 |
21-27484463-C-A |
c.58G>T |
p.V20L |
Missense |
2/18 |
- |
1 |
21-27484463-C-G |
c.58G>C |
p.V20L |
Missense |
2/18 |
- |
1 |
21-27484463-C-T |
c.58G>A |
p.V20I |
Missense |
2/18 |
- |
3 |
21-27484477-C-G |
c.58-14G>C |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27484477-C-T |
c.58-14G>A |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27484499-T-C |
c.58-36A>G |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27484549-A-C |
c.58-86T>G |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27484968-T-C |
c.58-505A>G |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27485347-C-T |
c.58-884G>A |
- |
IntronicSNV |
- |
1/17 |
2 |
21-27487291-A-G |
c.58-2828T>C |
- |
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 |
3 |
21-27494202-C-G |
c.58-9739G>C |
- |
IntronicSNV |
- |
1/17 |
3 |
21-27494202-C-T |
c.58-9739G>A |
- |
IntronicSNV |
- |
1/17 |
3 |
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 |
3 |
21-27501040-A-G |
c.58-16577T>C |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27501142-T-A |
c.58-16679A>T |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27501142-T-C |
c.58-16679A>G |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27501808-T-C |
c.58-17345A>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 |
2 |
21-27502468-T-C |
c.58-18005A>G |
- |
IntronicSNV |
- |
1/17 |
2 |
21-27502723-C-A |
c.58-18260G>T |
- |
IntronicSNV |
- |
1/17 |
3 |
21-27503422-C-T |
c.58-18959G>A |
- |
IntronicSNV |
- |
1/17 |
3 |
21-27503588-A-T |
c.58-19125T>A |
- |
IntronicSNV |
- |
1/17 |
1 |
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 |
2 |
21-27512704-T-C |
c.58-28241A>G |
- |
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 |
2 |
21-27513837-A-G |
c.57+29045T>C |
- |
IntronicSNV |
- |
1/17 |
2 |
21-27514373-G-A |
c.57+28509C>T |
- |
IntronicSNV |
- |
1/17 |
3 |
21-27514373-G-C |
c.57+28509C>G |
- |
IntronicSNV |
- |
1/17 |
3 |
21-27514740-T-C |
c.57+28142A>G |
- |
IntronicSNV |
- |
1/17 |
5 |
21-27514967-G-A |
c.57+27915C>T |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27515239-C-G |
c.57+27643G>C |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27515239-C-T |
c.57+27643G>A |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27516560-G-C |
c.57+26322C>G |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27516560-G-T |
c.57+26322C>A |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27517077-A-C |
c.57+25805T>G |
- |
IntronicSNV |
- |
1/17 |
2 |
21-27517077-A-T |
c.57+25805T>A |
- |
IntronicSNV |
- |
1/17 |
2 |
21-27517203-T-C |
c.57+25679A>G |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27519066-GTTCAT-G |
c.57+23811_57+23815del |
- |
IntronicDeletion |
- |
1/17 |
1 |
21-27520714-T-C |
c.57+22168A>G |
- |
IntronicSNV |
- |
1/17 |
2 |
21-27520773-G-C |
c.57+22109C>G |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27520931-G-T |
c.57+21951C>A |
- |
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 |
21-27526886-G-C |
c.57+15996C>G |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27529562-AT-A |
c.57+13319del |
- |
IntronicDeletion |
- |
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 |
2 |
21-27532072-A-G |
c.57+10810T>C |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27533022-C-G |
c.57+9860G>C |
- |
IntronicSNV |
- |
1/17 |
2 |
21-27533329-G-A |
c.57+9553C>T |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27534261-T-A |
c.57+8621A>T |
- |
IntronicSNV |
- |
1/17 |
2 |
21-27534261-T-C |
c.57+8621A>G |
- |
IntronicSNV |
- |
1/17 |
2 |
21-27534816-G-A |
c.57+8066C>T |
- |
IntronicSNV |
- |
1/17 |
2 |
21-27535027-C-T |
c.57+7855G>A |
- |
IntronicSNV |
- |
1/17 |
3 |
21-27537092-T-C |
c.57+5790A>G |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27537584-A-G |
c.57+5298T>C |
- |
IntronicSNV |
- |
1/17 |
1 |
21-27542725-G-C |
c.57+157C>G |
- |
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 |
21-27542883-T-G |
c.56A>C |
p.E19A |
Missense |
1/18 |
- |
1 |
21-27542884-C-G |
c.55G>C |
p.E19Q |
Missense |
1/18 |
- |
1 |
21-27542885-C-A |
c.54G>T |
p.L18= |
Synonymous |
1/18 |
- |
2 |
21-27542885-C-G |
c.54G>C |
p.L18= |
Synonymous |
1/18 |
- |
2 |
21-27542885-C-T |
c.54G>A |
p.L18= |
Synonymous |
1/18 |
- |
2 |
21-27542887-G-A |
c.52C>T |
p.L18= |
Synonymous |
1/18 |
- |
2 |
21-27542886-AG-GC |
c.52_53delinsGC |
p.L18A |
Missense |
1/18 |
- |
6 |
21-27542886-AG-TC |
c.52_53delinsGA |
p.L18E |
Missense |
1/18 |
- |
1 |
21-27542887-G-C |
c.52C>G |
p.L18V |
Missense |
1/18 |
- |
1 |
21-27542887-G-T |
c.52C>A |
p.L18M |
Missense |
1/18 |
- |
1 |
21-27542888-C-A |
c.51G>T |
p.A17= |
Synonymous |
1/18 |
- |
2 |
21-27542888-C-G |
c.51G>C |
p.A17= |
Synonymous |
1/18 |
- |
1 |
21-27542888-CG-GT |
c.50_51delinsAC |
p.A17D |
Missense |
1/18 |
- |
2 |
21-27542888-C-T |
c.51G>A |
p.A17= |
Synonymous |
1/18 |
- |
1 |
21-27542889-G-A |
c.50C>T |
p.A17V |
Missense |
1/18 |
- |
1 |
21-27542889-G-C |
c.50C>G |
p.A17G |
Missense |
1/18 |
- |
1 |
21-27542889-GC-TG |
c.49_50delinsCA |
p.A17Q |
Missense |
1/18 |
- |
2 |
21-27542889-G-T |
c.50C>A |
p.A17E |
Missense |
1/18 |
- |
1 |
21-27542891-CC-AT |
c.47_48delinsAT |
p.R16H |
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-C-G |
c.47G>C |
p.R16P |
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 |
- |
2 |
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 |
- |
3 |
21-27542893-G-C |
c.46C>G |
p.R16G |
Missense |
1/18 |
- |
3 |
21-27542893-G-T |
c.46C>A |
p.R16= |
Synonymous |
1/18 |
- |
1 |
21-27542894-A-C |
c.45T>G |
p.A15= |
Synonymous |
1/18 |
- |
2 |
21-27542894-A-G |
c.45T>C |
p.A15= |
Synonymous |
1/18 |
- |
2 |
21-27542894-AGC-CAT |
c.43_45delinsATG |
p.A15M |
Missense |
1/18 |
- |
2 |
21-27542894-AGC-CTT |
c.43_45delinsAAG |
p.A15K |
Missense |
1/18 |
- |
2 |
21-27542894-AG-CT |
c.44_45inv |
p.A15E |
Missense |
1/18 |
- |
2 |
21-27542894-AGC-TTA |
c.43_45delinsTAA |
p.A15* |
Nonsense |
1/18 |
- |
1 |
21-27542894-A-T |
c.45T>A |
p.A15= |
Synonymous |
1/18 |
- |
2 |
21-27542895-G-A |
c.44C>T |
p.A15V |
Missense |
1/18 |
- |
2 |
21-27542895-G-C |
c.44C>G |
p.A15G |
Missense |
1/18 |
- |
1 |
21-27542895-GC-AA |
c.43_44delinsTT |
p.A15F |
Missense |
1/18 |
- |
1 |
21-27542895-GC-AG |
c.43_44delinsCT |
p.A15L |
Missense |
1/18 |
- |
2 |
21-27542895-GC-AT |
c.43_44delinsAT |
p.A15I |
Missense |
1/18 |
- |
1 |
21-27542895-GC-CA |
c.43_44delinsTG |
p.A15C |
Missense |
1/18 |
- |
2 |
21-27542895-G-T |
c.44C>A |
p.A15D |
Missense |
1/18 |
- |
1 |
21-27542896-C-A |
c.43G>T |
p.A15S |
Missense |
1/18 |
- |
2 |
21-27542896-C-G |
c.43G>C |
p.A15P |
Missense |
1/18 |
- |
1 |
21-27542897-C-A |
c.42G>T |
p.T14= |
Synonymous |
1/18 |
- |
1 |
21-27542897-C-G |
c.42G>C |
p.T14= |
Synonymous |
1/18 |
- |
1 |
21-27542897-C-T |
c.42G>A |
p.T14= |
Synonymous |
1/18 |
- |
1 |
21-27542898-GT-CA |
c.40_41delinsTG |
p.T14W |
Missense |
1/18 |
- |
1 |
21-27542899-T-C |
c.40A>G |
p.T14A |
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-GGC-CAT |
c.34_36delinsATG |
p.A12M |
Missense |
1/18 |
- |
2 |
21-27542903-GGC-CCA |
c.34_36delinsTGG |
p.A12W |
Missense |
1/18 |
- |
1 |
21-27542903-GG-CT |
c.35_36delinsAG |
p.A12E |
Missense |
1/18 |
- |
2 |
21-27542903-GGC-TTA |
c.34_36delinsTAA |
p.A12* |
Nonsense |
1/18 |
- |
1 |
21-27542903-GGC-TTG |
c.34_36delinsCAA |
p.A12Q |
Missense |
1/18 |
- |
2 |
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 |
- |
3 |
21-27542904-GC-CA |
c.34_35delinsTG |
p.A12C |
Missense |
1/18 |
- |
2 |
21-27542904-GC-TG |
c.34_35delinsCA |
p.A12H |
Missense |
1/18 |
- |
1 |
21-27542904-GC-TT |
c.34_35delinsAA |
p.A12N |
Missense |
1/18 |
- |
1 |
21-27542904-G-T |
c.35C>A |
p.A12D |
Missense |
1/18 |
- |
2 |
21-27542905-C-G |
c.34G>C |
p.A12P |
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 |
- |
3 |
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-GC-TT |
c.31_32delinsAA |
p.A11N |
Missense |
1/18 |
- |
2 |
21-27542907-G-T |
c.32C>A |
p.A11D |
Missense |
1/18 |
- |
1 |
21-27542908-C-A |
c.31G>T |
p.A11S |
Missense |
1/18 |
- |
1 |
21-27542908-C-T |
c.31G>A |
p.A11T |
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 |
- |
9 |
21-27542910-AG-TC |
c.28_29delinsGA |
p.L10E |
Missense |
1/18 |
- |
1 |
21-27542910-AG-TT |
c.28_29delinsAA |
p.L10K |
Missense |
1/18 |
- |
1 |
21-27542915-G-A |
c.24C>T |
p.L8= |
Synonymous |
1/18 |
- |
1 |
21-27542915-G-C |
c.24C>G |
p.L8= |
Synonymous |
1/18 |
- |
1 |
21-27542915-G-T |
c.24C>A |
p.L8= |
Synonymous |
1/18 |
- |
1 |
21-27542917-G-A |
c.22C>T |
p.L8F |
Missense |
1/18 |
- |
4 |
21-27542918-C-A |
c.21G>T |
p.L7= |
Synonymous |
1/18 |
- |
1 |
21-27542918-C-G |
c.21G>C |
p.L7= |
Synonymous |
1/18 |
- |
1 |
21-27542918-C-T |
c.21G>A |
p.L7= |
Synonymous |
1/18 |
- |
1 |
21-27542920-G-A |
c.19C>T |
p.L7= |
Synonymous |
1/18 |
- |
1 |
21-27542919-A-G |
c.20T>C |
p.L7P |
Missense |
1/18 |
- |
1 |
21-27542919-AG-CA |
c.19_20delinsTG |
p.L7W |
Missense |
1/18 |
- |
1 |
21-27542921-T-A |
c.18A>T |
p.A6= |
Synonymous |
1/18 |
- |
1 |
21-27542921-T-C |
c.18A>G |
p.A6= |
Synonymous |
1/18 |
- |
1 |
21-27542921-T-G |
c.18A>C |
p.A6= |
Synonymous |
1/18 |
- |
1 |
21-27542922-G-A |
c.17C>T |
p.A6V |
Missense |
1/18 |
- |
2 |
21-27542924-C-T |
c.15G>A |
p.L5= |
Synonymous |
1/18 |
- |
1 |
21-27542926-A-G |
c.13T>C |
p.L5= |
Synonymous |
1/18 |
- |
1 |
21-27542927-A-C |
c.12T>G |
p.G4= |
Synonymous |
1/18 |
- |
2 |
21-27542927-A-G |
c.12T>C |
p.G4= |
Synonymous |
1/18 |
- |
2 |
21-27542927-A-T |
c.12T>A |
p.G4= |
Synonymous |
1/18 |
- |
2 |
21-27542929-C-G |
c.10G>C |
p.G4R |
Missense |
1/18 |
- |
1 |
21-27542930-G-A |
c.9C>T |
p.P3= |
Synonymous |
1/18 |
- |
3 |
21-27542930-G-C |
c.9C>G |
p.P3= |
Synonymous |
1/18 |
- |
3 |
21-27542930-G-T |
c.9C>A |
p.P3= |
Synonymous |
1/18 |
- |
3 |
21-27542933-C-A |
c.6G>T |
p.L2= |
Synonymous |
1/18 |
- |
4 |
21-27542933-C-G |
c.6G>C |
p.L2= |
Synonymous |
1/18 |
- |
4 |
21-27542933-C-T |
c.6G>A |
p.L2= |
Synonymous |
1/18 |
- |
4 |
21-27542935-G-A |
c.4C>T |
p.L2= |
Synonymous |
1/18 |
- |
4 |
21-27542935-G-GTTTC |
c.3_4insGAAA |
p.L2Efs*23 |
Frameshift |
1/18 |
- |
1 |
21-27542937-A-G |
c.2T>C |
p.M1? |
Missense |
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 |
- |
11 |
21-27543049-C-T |
c.-111G>A |
- |
5-UTRSNV |
1/18 |
- |
11 |
21-27543086-G-A |
c.-148C>T |
- |
5-UTRSNV |
1/18 |
- |
1 |