X-107683356-A-C |
c.1A>C |
p.M1? |
Missense |
1/53 |
- |
1 |
X-107683361-A-G |
c.6A>G |
p.K2= |
Synonymous |
1/53 |
- |
1 |
X-107683368-G-T |
c.13G>T |
p.G5* |
Nonsense |
1/53 |
- |
1 |
X-107683381-C-A |
c.26C>A |
p.A9D |
Missense |
1/53 |
- |
1 |
X-107683385-C-A |
c.30C>A |
p.A10= |
Synonymous |
1/53 |
- |
1 |
X-107683385-C-G |
c.30C>G |
p.A10= |
Synonymous |
1/53 |
- |
1 |
X-107683385-C-T |
c.30C>T |
p.A10= |
Synonymous |
1/53 |
- |
1 |
X-107683388-C-A |
c.33C>A |
p.G11= |
Synonymous |
1/53 |
- |
1 |
X-107683388-C-G |
c.33C>G |
p.G11= |
Synonymous |
1/53 |
- |
1 |
X-107683388-C-T |
c.33C>T |
p.G11= |
Synonymous |
1/53 |
- |
1 |
X-107683392-T-C |
c.37T>C |
p.F13L |
Missense |
1/53 |
- |
1 |
X-107683392-TT-AA |
c.37_38inv |
p.F13N |
Missense |
1/53 |
- |
1 |
X-107683394-C-A |
c.39C>A |
p.F13L |
Missense |
1/53 |
- |
1 |
X-107683394-C-G |
c.39C>G |
p.F13L |
Missense |
1/53 |
- |
1 |
X-107683402-C-A |
c.47C>A |
p.A16D |
Missense |
1/53 |
- |
1 |
X-107683405-CT-C |
c.50del |
p.L17Rfs*27 |
Frameshift |
1/53 |
- |
1 |
X-107683417-G-A |
c.62G>A |
p.G21E |
Missense |
1/53 |
- |
1 |
X-107683418-G-A |
c.63G>A |
p.G21= |
Synonymous |
1/53 |
- |
1 |
X-107683418-G-C |
c.63G>C |
p.G21= |
Synonymous |
1/53 |
- |
1 |
X-107683418-G-T |
c.63G>T |
p.G21= |
Synonymous |
1/53 |
- |
1 |
X-107683425-G-T |
c.70G>T |
p.A24S |
Missense |
1/53 |
- |
1 |
X-107683426-CA-AC |
c.71_72delinsAC |
p.A24D |
Missense |
1/53 |
- |
1 |
X-107683428-GAG-TTT |
c.73_75delinsTTT |
p.E25F |
Missense |
1/53 |
- |
1 |
X-107683430-G-A |
c.75G>A |
p.E25= |
Synonymous |
1/53 |
- |
1 |
X-107683434-GCG-TGT |
c.79_81delinsTGT |
p.A27C |
Missense |
1/53 |
- |
1 |
X-107683435-C-T |
c.80C>T |
p.A27V |
Missense |
1/53 |
- |
1 |
X-107683436-G-A |
c.81G>A |
p.A27= |
Synonymous |
1/53 |
- |
3 |
X-107683436-G-C |
c.81G>C |
p.A27= |
Synonymous |
1/53 |
- |
2 |
X-107683436-G-T |
c.81G>T |
p.A27= |
Synonymous |
1/53 |
- |
2 |
X-107690996-A-C |
c.81+7560A>C |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107692305-C-G |
c.81+8869C>G |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107692305-C-T |
c.81+8869C>T |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107695404-A-G |
c.81+11968A>G |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107706848-C-A |
c.81+23412C>A |
- |
IntronicSNV |
- |
1/52 |
1 |
X-107782977-CT-AG |
c.83_84inv |
p.A28E |
Missense |
2/53 |
- |
1 |
X-107782979-T-C |
c.85T>C |
p.C29R |
Missense |
2/53 |
- |
1 |
X-107782979-TG-AC |
c.85_86delinsAC |
p.C29T |
Missense |
2/53 |
- |
1 |
X-107782981-C-A |
c.87C>A |
p.C29* |
Nonsense |
2/53 |
- |
2 |
X-107782981-C-G |
c.87C>G |
p.C29W |
Missense |
2/53 |
- |
1 |
X-107782981-C-T |
c.87C>T |
p.C29= |
Synonymous |
2/53 |
- |
1 |
X-107782983-A-G |
c.89A>G |
p.Y30C |
Missense |
2/53 |
- |
1 |
X-107782984-T-A |
c.90T>A |
p.Y30* |
Nonsense |
2/53 |
- |
2 |
X-107782984-T-G |
c.90T>G |
p.Y30* |
Nonsense |
2/53 |
- |
2 |
X-107782986-G-C |
c.92G>C |
p.G31A |
Missense |
2/53 |
- |
1 |
X-107783000-TC-AG |
c.106_107delinsAG |
p.S36R |
Missense |
2/53 |
- |
1 |
X-107783001-C-A |
c.107C>A |
p.S36* |
Nonsense |
2/53 |
- |
1 |
X-107783001-CA-GG |
c.107_108delinsGG |
p.S36W |
Missense |
2/53 |
- |
1 |
X-107783001-CA-GT |
c.107_108delinsGT |
p.S36C |
Missense |
2/53 |
- |
1 |
X-107783001-C-G |
c.107C>G |
p.S36* |
Nonsense |
2/53 |
- |
2 |
X-107783012-TG-GC |
c.118_119delinsGC |
p.C40A |
Missense |
2/53 |
- |
1 |
X-107783036-G-A |
c.141+1G>A |
- |
IntronicSNV |
- |
2/52 |
1 |
X-107802294-G-A |
c.142G>A |
p.G48R |
Missense |
3/53 |
- |
1 |
X-107802306-GTTT-G |
c.154_156del |
p.F52del |
InFrameDeletion |
3/53 |
- |
2 |
X-107802318-G-A |
c.166G>A |
p.E56K |
Missense |
3/53 |
- |
1 |
X-107802339-G-T |
c.187G>T |
p.G63* |
Nonsense |
3/53 |
- |
1 |
X-107802342-T-C |
c.190T>C |
p.F64L |
Missense |
3/53 |
- |
1 |
X-107802344-T-A |
c.192T>A |
p.F64L |
Missense |
3/53 |
- |
1 |
X-107802344-T-G |
c.192T>G |
p.F64L |
Missense |
3/53 |
- |
1 |
X-107802376-G-T |
c.224G>T |
p.G75V |
Missense |
3/53 |
- |
1 |
X-107802382-A-C |
c.230A>C |
p.K77T |
Missense |
3/53 |
- |
1 |
X-107802385-T-C |
c.231+2T>C |
- |
IntronicSNV |
- |
3/52 |
1 |
X-107807125-T-C |
c.245T>C |
p.I82T |
Missense |
4/53 |
- |
1 |
X-107811860-G-C |
c.278G>C |
p.G93A |
Missense |
5/53 |
- |
2 |
X-107811869-G-C |
c.287G>C |
p.G96A |
Missense |
5/53 |
- |
1 |
X-107811883-C-T |
c.301C>T |
p.P101S |
Missense |
5/53 |
- |
1 |
X-107811895-G-A |
c.313G>A |
p.G105S |
Missense |
5/53 |
- |
1 |
X-107812007-G-A |
c.340G>A |
p.G114R |
Missense |
6/53 |
- |
1 |
X-107812010-GC-G |
c.347del |
p.P116Qfs*39 |
Frameshift |
6/53 |
- |
1 |
X-107812015-A-ATCCGG |
c.348_349insTCCGG |
p.G117Sfs*40 |
Frameshift |
6/53 |
- |
1 |
X-107812014-CAGGACCTCA-C |
c.351_359del |
p.P118_G120del |
InFrameDeletion |
6/53 |
- |
1 |
X-107812025-G-A |
c.358G>A |
p.G120S |
Missense |
6/53 |
- |
1 |
X-107812034-GGA-AGC |
c.367_369delinsAGC |
p.G123S |
Missense |
6/53 |
- |
1 |
X-107812033-CG-C |
c.368del |
p.G123Dfs*32 |
Frameshift |
6/53 |
- |
1 |
X-107812035-G-A |
c.368G>A |
p.G123E |
Missense |
6/53 |
- |
1 |
X-107812052-G-A |
c.384+1G>A |
- |
IntronicSNV |
- |
6/52 |
1 |
X-107814646-GAA-TAT |
c.388_390delinsTAT |
p.E130Y |
Missense |
7/53 |
- |
1 |
X-107814646-G-C |
c.388G>C |
p.E130Q |
Missense |
7/53 |
- |
1 |
X-107814646-G-T |
c.388G>T |
p.E130* |
Nonsense |
7/53 |
- |
1 |
X-107814653-G-A |
c.395G>A |
p.G132E |
Missense |
7/53 |
- |
1 |
X-107814670-G-A |
c.412G>A |
p.G138S |
Missense |
7/53 |
- |
1 |
X-107814679-GGTTTACA-G |
c.423_429del |
p.L142Vfs*11 |
Frameshift |
7/53 |
- |
1 |
X-107814688-G-A |
c.430G>A |
p.G144S |
Missense |
7/53 |
- |
1 |
X-107814701-G-A |
c.438+5G>A |
- |
IntronicSNV |
- |
7/52 |
1 |
X-107815039-AG-A |
c.440del |
p.G147Dfs*8 |
Frameshift |
8/53 |
- |
1 |
X-107815042-G-C |
c.440G>C |
p.G147A |
Missense |
8/53 |
- |
1 |
X-107815043-A-AC |
c.446dup |
p.G150Wfs*8 |
Frameshift |
8/53 |
- |
1 |
X-107815043-AC-A |
c.446del |
p.P149Lfs*6 |
Frameshift |
8/53 |
- |
2 |
X-107815050-G-A |
c.448G>A |
p.G150R |
Missense |
8/53 |
- |
1 |
X-107815050-G-C |
c.448G>C |
p.G150R |
Missense |
8/53 |
- |
1 |
X-107815050-G-T |
c.448G>T |
p.G150W |
Missense |
8/53 |
- |
1 |
X-107816804-G-C |
c.466G>C |
p.G156R |
Missense |
9/53 |
- |
1 |
X-107816804-G-T |
c.466G>T |
p.G156C |
Missense |
9/53 |
- |
1 |
X-107816805-G-C |
c.467G>C |
p.G156A |
Missense |
9/53 |
- |
1 |
X-107816814-G-T |
c.476G>T |
p.G159V |
Missense |
9/53 |
- |
1 |
X-107816826-T-C |
c.488T>C |
p.M163T |
Missense |
9/53 |
- |
1 |
X-107816826-T-G |
c.488T>G |
p.M163R |
Missense |
9/53 |
- |
1 |
X-107816836-GC-G |
c.500del |
p.P167Qfs*36 |
Frameshift |
9/53 |
- |
2 |
X-107816838-C-A |
c.500C>A |
p.P167Q |
Missense |
9/53 |
- |
2 |
X-107816840-G-A |
c.502G>A |
p.G168R |
Missense |
9/53 |
- |
1 |
X-107816840-G-C |
c.502G>C |
p.G168R |
Missense |
9/53 |
- |
1 |
X-107816848-G-A |
c.510G>A |
p.K170= |
Synonymous |
9/53 |
- |
1 |
X-107816853-A-G |
c.515A>G |
p.N172S |
Missense |
9/53 |
- |
1 |
X-107816858-G-C |
c.520G>C |
p.G174R |
Missense |
9/53 |
- |
2 |
X-107816863-AT-A |
c.525del |
p.P176Qfs*27 |
Frameshift |
9/53 |
- |
1 |
X-107816882-CAA-TGT |
c.544_546delinsTGT |
p.Q182C |
Missense |
9/53 |
- |
1 |
X-107816882-C-T |
c.544C>T |
p.Q182* |
Nonsense |
9/53 |
- |
1 |
X-107816883-CAA-C |
c.545_546del |
p.Q182Rfs*33 |
SpliceDonorDeletion |
9/53 |
- |
1 |
X-107816886-T-C |
c.546+2T>C |
- |
IntronicSNV |
- |
9/52 |
1 |
X-107816889-G-C |
c.546+5G>C |
- |
IntronicSNV |
- |
9/52 |
1 |
X-107819141-G-T |
c.548G>T |
p.G183V |
Missense |
10/53 |
- |
1 |
X-107819166-A-AG |
c.576dup |
p.P193Afs*23 |
Frameshift |
10/53 |
- |
1 |
X-107819173-A-G |
c.580A>G |
p.I194V |
Missense |
10/53 |
- |
1 |
X-107819177-G-A |
c.584G>A |
p.G195D |
Missense |
10/53 |
- |
1 |
X-107819179-C-G |
c.586C>G |
p.P196A |
Missense |
10/53 |
- |
1 |
X-107821182-G-C |
c.610G>C |
p.G204R |
Missense |
11/53 |
- |
1 |
X-107821198-C-T |
c.626C>T |
p.P209L |
Missense |
11/53 |
- |
1 |
X-107821201-G-A |
c.629G>A |
p.G210E |
Missense |
11/53 |
- |
1 |
X-107821201-G-C |
c.629G>C |
p.G210A |
Missense |
11/53 |
- |
1 |
X-107821206-TCCA-T |
c.634_636del |
p.P212del |
InFrameDeletion |
11/53 |
- |
1 |
X-107821307-GGGGAATAT-G |
c.649_656del |
p.N217Lfs*9 |
Frameshift |
12/53 |
- |
1 |
X-107821317-G-T |
c.655G>T |
p.G219C |
Missense |
12/53 |
- |
1 |
X-107821326-T-C |
c.664T>C |
p.F222L |
Missense |
12/53 |
- |
1 |
X-107821328-C-A |
c.666C>A |
p.F222L |
Missense |
12/53 |
- |
1 |
X-107821328-C-G |
c.666C>G |
p.F222L |
Missense |
12/53 |
- |
1 |
X-107821327-T-G |
c.665T>G |
p.F222C |
Missense |
12/53 |
- |
3 |
X-107821332-G-A |
c.670G>A |
p.G224R |
Missense |
12/53 |
- |
1 |
X-107821342-G-A |
c.680G>A |
p.G227D |
Missense |
12/53 |
- |
1 |
X-107821344-G-T |
c.682G>T |
p.E228* |
Nonsense |
12/53 |
- |
1 |
X-107821347-A-T |
c.685A>T |
p.K229* |
Nonsense |
12/53 |
- |
1 |
X-107821350-G-A |
c.687+1G>A |
- |
IntronicSNV |
- |
12/52 |
3 |
X-107821521-G-T |
c.688G>T |
p.G230C |
Missense |
13/53 |
- |
1 |
X-107821525-A-T |
c.692A>T |
p.E231V |
Missense |
13/53 |
- |
1 |
X-107821531-G-T |
c.698G>T |
p.G233V |
Missense |
13/53 |
- |
1 |
X-107821552-C-A |
c.719C>A |
p.P240Q |
Missense |
13/53 |
- |
1 |
X-107821570-A-T |
c.737A>T |
p.E246V |
Missense |
13/53 |
- |
1 |
X-107823778-C-T |
c.796C>T |
p.R266* |
Nonsense |
14/53 |
- |
4 |
X-107823794-C-T |
c.812C>T |
p.P271L |
Missense |
14/53 |
- |
1 |
X-107823818-T-C |
c.834+2T>C |
- |
IntronicSNV |
- |
14/52 |
2 |
X-107823818-T-G |
c.834+2T>G |
- |
IntronicSNV |
- |
14/52 |
1 |
X-107823821-G-A |
c.834+5G>A |
- |
IntronicSNV |
- |
14/52 |
1 |
X-107823916-C-T |
c.839C>T |
p.P280L |
Missense |
15/53 |
- |
1 |
X-107823936-G-T |
c.859G>T |
p.E287* |
Nonsense |
15/53 |
- |
1 |
X-107823945-GA-TC |
c.868_869inv |
p.E290S |
Missense |
15/53 |
- |
1 |
X-107823946-A-C |
c.869A>C |
p.E290A |
Missense |
15/53 |
- |
1 |
X-107823951-G-C |
c.874G>C |
p.G292R |
Missense |
15/53 |
- |
1 |
X-107823952-G-T |
c.875G>T |
p.G292V |
Missense |
15/53 |
- |
1 |
X-107823953-A-C |
c.876A>C |
p.G292= |
Synonymous |
15/53 |
- |
2 |
X-107823953-A-G |
c.876A>G |
p.G292= |
Synonymous |
15/53 |
- |
2 |
X-107823953-A-T |
c.876A>T |
p.G292= |
Synonymous |
15/53 |
- |
3 |
X-107823954-G-A |
c.877G>A |
p.E293K |
Missense |
15/53 |
- |
1 |
X-107823960-G-A |
c.883G>A |
p.G295S |
Missense |
15/53 |
- |
1 |
X-107823961-G-A |
c.884G>A |
p.G295D |
Missense |
15/53 |
- |
1 |
X-107823962-CAA-C |
c.888_889del |
p.G298* |
Frameshift |
15/53 |
- |
1 |
X-107823968-A-T |
c.891A>T |
p.R297S |
Missense |
15/53 |
- |
1 |
X-107824213-G-C |
c.892G>C |
p.G298R |
Missense |
16/53 |
- |
1 |
X-107824219-C-T |
c.898C>T |
p.P300S |
Missense |
16/53 |
- |
1 |
X-107824220-C-T |
c.899C>T |
p.P300L |
Missense |
16/53 |
- |
1 |
X-107824232-G-A |
c.911G>A |
p.G304E |
Missense |
16/53 |
- |
1 |
X-107824234-G-T |
c.913G>T |
p.E305* |
Nonsense |
16/53 |
- |
1 |
X-107824240-G-A |
c.919G>A |
p.G307S |
Missense |
16/53 |
- |
1 |
X-107824244-A-C |
c.923A>C |
p.Q308P |
Missense |
16/53 |
- |
1 |
X-107824245-A-T |
c.924A>T |
p.Q308H |
Missense |
16/53 |
- |
1 |
X-107826112-AG-A |
c.938del |
p.G313Vfs*33 |
Frameshift |
17/53 |
- |
1 |
X-107826115-G-C |
c.938G>C |
p.G313A |
Missense |
17/53 |
- |
1 |
X-107826115-G-T |
c.938G>T |
p.G313V |
Missense |
17/53 |
- |
1 |
X-107826119-GC-G |
c.944del |
p.P315Lfs*31 |
Frameshift |
17/53 |
- |
1 |
X-107826124-G-A |
c.947G>A |
p.G316D |
Missense |
17/53 |
- |
1 |
X-107826132-G-C |
c.955G>C |
p.G319R |
Missense |
17/53 |
- |
1 |
X-107826137-C-A |
c.960C>A |
p.Y320* |
Nonsense |
17/53 |
- |
1 |
X-107826137-C-G |
c.960C>G |
p.Y320* |
Nonsense |
17/53 |
- |
1 |
X-107826150-G-A |
c.973G>A |
p.G325R |
Missense |
17/53 |
- |
2 |
X-107826150-G-C |
c.973G>C |
p.G325R |
Missense |
17/53 |
- |
2 |
X-107826150-GG-CA |
c.973_974delinsCA |
p.G325Q |
Missense |
17/53 |
- |
1 |
X-107826151-G-A |
c.974G>A |
p.G325E |
Missense |
17/53 |
- |
1 |
X-107826154-GGGAT-G |
c.980_983del |
p.D327Vfs*18 |
Frameshift |
17/53 |
- |
1 |
X-107826167-G-T |
c.990G>T |
p.K330N |
Missense |
17/53 |
- |
1 |
X-107827733-G-T |
c.1010G>T |
p.G337V |
Missense |
18/53 |
- |
1 |
X-107827741-G-C |
c.1018G>C |
p.G340R |
Missense |
18/53 |
- |
1 |
X-107829851-C-T |
c.1039C>T |
p.P347S |
Missense |
19/53 |
- |
1 |
X-107829857-C-T |
c.1045C>T |
p.P349S |
Missense |
19/53 |
- |
1 |
X-107829872-A-G |
c.1060A>G |
p.T354A |
Missense |
19/53 |
- |
1 |
X-107829873-C-T |
c.1061C>T |
p.T354I |
Missense |
19/53 |
- |
1 |
X-107829887-G-A |
c.1075G>A |
p.G359R |
Missense |
19/53 |
- |
1 |
X-107829888-G-GA |
c.1079dup |
p.N360Kfs*51 |
Frameshift |
19/53 |
- |
1 |
X-107829907-G-C |
c.1095G>C |
p.G365= |
Synonymous |
19/53 |
- |
2 |
X-107829914-G-A |
c.1102G>A |
p.G368R |
Missense |
19/53 |
- |
1 |
X-107829926-G-T |
c.1114G>T |
p.E372* |
Nonsense |
19/53 |
- |
1 |
X-107829929-C-T |
c.1117C>T |
p.R373* |
Nonsense |
19/53 |
- |
6 |
X-107829930-G-A |
c.1118G>A |
p.R373Q |
Missense |
19/53 |
- |
1 |
X-107829932-G-T |
c.1120G>T |
p.G374* |
Nonsense |
19/53 |
- |
1 |
X-107829933-G-T |
c.1121G>T |
p.G374V |
Missense |
19/53 |
- |
1 |
X-107829936-T-TCC |
c.1124_1125insCC |
p.P376Lfs*99 |
Frameshift |
19/53 |
- |
1 |
X-107829941-G-A |
c.1129G>A |
p.G377R |
Missense |
19/53 |
- |
1 |
X-107829941-GGA-AGC |
c.1129_1131delinsAGC |
p.G377S |
Missense |
19/53 |
- |
1 |
X-107829942-G-A |
c.1130G>A |
p.G377E |
Missense |
19/53 |
- |
1 |
X-107829947-C-T |
c.1135C>T |
p.Q379* |
Nonsense |
19/53 |
- |
1 |
X-107829962-CT-C |
c.1152del |
p.P385Lfs*89 |
Frameshift |
19/53 |
- |
1 |
X-107829977-G-A |
c.1165G>A |
p.G389R |
Missense |
19/53 |
- |
2 |
X-107829977-G-C |
c.1165G>C |
p.G389R |
Missense |
19/53 |
- |
1 |
X-107834288-G-A |
c.1166G>A |
p.G389E |
Missense |
20/53 |
- |
1 |
X-107834305-C-T |
c.1183C>T |
p.P395S |
Missense |
20/53 |
- |
1 |
X-107834308-C-T |
c.1186C>T |
p.P396S |
Missense |
20/53 |
- |
1 |
X-107834314-C-T |
c.1192C>T |
p.P398S |
Missense |
20/53 |
- |
1 |
X-107834330-G-T |
c.1208G>T |
p.G403V |
Missense |
20/53 |
- |
1 |
X-107834333-A-C |
c.1211A>C |
p.E404A |
Missense |
20/53 |
- |
1 |
X-107834332-G-GA |
c.1213dup |
p.R405Kfs*6 |
Frameshift |
20/53 |
- |
1 |
X-107834338-G-C |
c.1216G>C |
p.G406R |
Missense |
20/53 |
- |
1 |
X-107834338-GG-CC |
c.1216_1217inv |
p.G406P |
Missense |
20/53 |
- |
1 |
X-107834335-AG-A |
c.1217del |
p.G406Vfs*68 |
Frameshift |
20/53 |
- |
1 |
X-107834339-G-A |
c.1217G>A |
p.G406D |
Missense |
20/53 |
- |
1 |
X-107834339-G-T |
c.1217G>T |
p.G406V |
Missense |
20/53 |
- |
3 |
X-107834341-C-T |
c.1219C>T |
p.Q407* |
Nonsense |
20/53 |
- |
1 |
X-107834344-A-T |
c.1222A>T |
p.K408* |
Nonsense |
20/53 |
- |
1 |
X-107834348-G-A |
c.1226G>A |
p.G409D |
Missense |
20/53 |
- |
2 |
X-107834371-T-A |
c.1249T>A |
p.S417T |
Missense |
20/53 |
- |
1 |
X-107834371-TC-GG |
c.1249_1250delinsGG |
p.S417G |
Missense |
20/53 |
- |
1 |
X-107834371-T-G |
c.1249T>G |
p.S417A |
Missense |
20/53 |
- |
1 |
X-107834380-G-A |
c.1258G>A |
p.G420R |
Missense |
20/53 |
- |
1 |
X-107834391-GA-G |
c.1269del |
p.D425Tfs*49 |
Frameshift |
20/53 |
- |
1 |
X-107834398-G-A |
c.1276G>A |
p.G426R |
Missense |
20/53 |
- |
2 |
X-107834411-C-A |
c.1289C>A |
p.A430D |
Missense |
20/53 |
- |
1 |
X-107834411-C-T |
c.1289C>T |
p.A430V |
Missense |
20/53 |
- |
1 |
X-107834432-C-T |
c.1310C>T |
p.P437L |
Missense |
20/53 |
- |
1 |
X-107834441-C-T |
c.1319C>T |
p.A440V |
Missense |
20/53 |
- |
1 |
X-107834453-T-G |
c.1331T>G |
p.I444S |
Missense |
20/53 |
- |
3 |
X-107834454-TC-T |
c.1334del |
p.P445Lfs*29 |
Frameshift |
20/53 |
- |
1 |
X-107834458-CCT-TAA |
c.1336_1338delinsTAA |
p.P446* |
Nonsense |
20/53 |
- |
1 |
X-107834791-GTGATGAGATATGTGAACCAGGCCCTCCAGGCCCCCCAGGATCTCCAGGTGATAAAGGAC-G |
c.1342_1400del |
p.D448Pfs*9 |
Unclassified |
21/53 |
- |
1 |
X-107834798-GAT-G |
c.1350_1351del |
p.I450Mfs*2 |
Frameshift |
21/53 |
- |
1 |
X-107834802-T-C |
c.1351T>C |
p.C451R |
Missense |
21/53 |
- |
1 |
X-107834825-C-TT |
c.1374delinsTT |
p.P459Sfs*6 |
Frameshift |
21/53 |
- |
1 |
X-107834821-GC-G |
c.1376del |
p.P459Qfs*15 |
Frameshift |
21/53 |
- |
1 |
X-107834862-C-T |
c.1411C>T |
p.Q471* |
Nonsense |
21/53 |
- |
1 |
X-107834866-G-A |
c.1415G>A |
p.G472E |
Missense |
21/53 |
- |
1 |
X-107834867-AGT-A |
c.1418_1419del |
p.V473Efs*3 |
Frameshift |
21/53 |
- |
1 |
X-107834874-G-A |
c.1423G>A |
p.G475S |
Missense |
21/53 |
- |
1 |
X-107834875-G-T |
c.1423+1G>T |
- |
IntronicSNV |
- |
21/52 |
2 |
X-107838789-C-G |
c.1474C>G |
p.P492A |
Missense |
22/53 |
- |
2 |
X-107838798-TCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAG-T |
c.1483_1516del |
p.Q495Dfs*51 |
SpliceDonorDeletion |
22/53 |
- |
1 |
X-107838813-G-C |
c.1498G>C |
p.G500R |
Missense |
22/53 |
- |
1 |
X-107838822-G-C |
c.1507G>C |
p.G503R |
Missense |
22/53 |
- |
1 |
X-107840233-C-G |
c.1522C>G |
p.L508V |
Missense |
23/53 |
- |
1 |
X-107840236-G-A |
c.1525G>A |
p.G509S |
Missense |
23/53 |
- |
1 |
X-107840236-G-C |
c.1525G>C |
p.G509R |
Missense |
23/53 |
- |
2 |
X-107840243-C-A |
c.1532C>A |
p.P511H |
Missense |
23/53 |
- |
1 |
X-107840263-G-A |
c.1552G>A |
p.G518R |
Missense |
23/53 |
- |
1 |
X-107840276-C-A |
c.1565C>A |
p.A522E |
Missense |
23/53 |
- |
1 |
X-107840290-GGA-TGT |
c.1579_1581delinsTGT |
p.G527C |
Missense |
23/53 |
- |
1 |
X-107840434-A-G |
c.1587+136A>G |
- |
IntronicSNV |
- |
23/52 |
1 |
X-107840434-A-T |
c.1587+136A>T |
- |
IntronicSNV |
- |
23/52 |
1 |
X-107840615-A-C |
c.1596A>C |
p.P532= |
Synonymous |
24/53 |
- |
1 |
X-107840615-A-G |
c.1596A>G |
p.P532= |
Synonymous |
24/53 |
- |
1 |
X-107840615-A-T |
c.1596A>T |
p.P532= |
Synonymous |
24/53 |
- |
1 |
X-107840617-G-A |
c.1598G>A |
p.G533E |
Missense |
24/53 |
- |
1 |
X-107840618-A-C |
c.1599A>C |
p.G533= |
Synonymous |
24/53 |
- |
1 |
X-107840618-A-G |
c.1599A>G |
p.G533= |
Synonymous |
24/53 |
- |
1 |
X-107840618-A-T |
c.1599A>T |
p.G533= |
Synonymous |
24/53 |
- |
1 |
X-107840643-G-T |
c.1624G>T |
p.G542* |
Nonsense |
24/53 |
- |
4 |
X-107840653-G-A |
c.1634G>A |
p.G545D |
Missense |
24/53 |
- |
1 |
X-107840653-G-C |
c.1634G>C |
p.G545A |
Missense |
24/53 |
- |
1 |
X-107840653-G-T |
c.1634G>T |
p.G545V |
Missense |
24/53 |
- |
1 |
X-107840662-G-A |
c.1643G>A |
p.G548D |
Missense |
24/53 |
- |
1 |
X-107840700-G-A |
c.1681G>A |
p.G561R |
Missense |
24/53 |
- |
1 |
X-107840709-G-T |
c.1690G>T |
p.G564C |
Missense |
24/53 |
- |
1 |
X-107840710-G-A |
c.1691G>A |
p.G564D |
Missense |
24/53 |
- |
1 |
X-107840719-G-C |
c.1700G>C |
p.G567A |
Missense |
24/53 |
- |
1 |
X-107840727-G-A |
c.1708G>A |
p.G570R |
Missense |
24/53 |
- |
1 |
X-107840745-G-A |
c.1726G>A |
p.G576S |
Missense |
24/53 |
- |
1 |
X-107840757-C-T |
c.1738C>T |
p.Q580* |
Nonsense |
24/53 |
- |
1 |
X-107840778-C-T |
c.1759C>T |
p.P587S |
Missense |
24/53 |
- |
1 |
X-107840781-G-A |
c.1762G>A |
p.G588S |
Missense |
24/53 |
- |
1 |
X-107840785-C-A |
c.1766C>A |
p.P589Q |
Missense |
24/53 |
- |
1 |
X-107840788-A-C |
c.1769A>C |
p.K590T |
Missense |
24/53 |
- |
1 |
X-107840790-G-A |
c.1771G>A |
p.G591R |
Missense |
24/53 |
- |
1 |
X-107840790-G-T |
c.1771G>T |
p.G591* |
Nonsense |
24/53 |
- |
1 |
X-107841932-G-A |
c.1780G>A |
p.G594S |
Missense |
25/53 |
- |
1 |
X-107841932-G-C |
c.1780G>C |
p.G594R |
Missense |
25/53 |
- |
1 |
X-107841933-G-A |
c.1781G>A |
p.G594D |
Missense |
25/53 |
- |
3 |
X-107841936-G-A |
c.1784G>A |
p.G595E |
Missense |
25/53 |
- |
1 |
X-107841978-G-A |
c.1826G>A |
p.G609D |
Missense |
25/53 |
- |
1 |
X-107841986-G-A |
c.1834G>A |
p.G612S |
Missense |
25/53 |
- |
1 |
X-107841986-G-C |
c.1834G>C |
p.G612R |
Missense |
25/53 |
- |
1 |
X-107841987-G-A |
c.1835G>A |
p.G612D |
Missense |
25/53 |
- |
1 |
X-107841996-G-C |
c.1844G>C |
p.G615A |
Missense |
25/53 |
- |
1 |
X-107841994-AG-A |
c.1845del |
p.N616Ifs*2 |
Frameshift |
25/53 |
- |
1 |
X-107842004-AGGG-A |
c.1852_1854del |
p.G618del |
InFrameDeletion |
25/53 |
- |
1 |
X-107842013-G-T |
c.1861G>T |
p.G621C |
Missense |
25/53 |
- |
1 |
X-107842014-G-C |
c.1862G>C |
p.G621A |
Missense |
25/53 |
- |
1 |
X-107842023-G-A |
c.1871G>A |
p.G624D |
Missense |
25/53 |
- |
26 |
X-107842023-G-T |
c.1871G>T |
p.G624V |
Missense |
25/53 |
- |
1 |
X-107842028-G-A |
c.1876G>A |
p.G626S |
Missense |
25/53 |
- |
1 |
X-107842031-C-T |
c.1879C>T |
p.P627S |
Missense |
25/53 |
- |
1 |
X-107842034-C-A |
c.1882C>A |
p.P628T |
Missense |
25/53 |
- |
1 |
X-107842035-C-T |
c.1883C>T |
p.P628L |
Missense |
25/53 |
- |
6 |
X-107842046-G-C |
c.1894G>C |
p.G632R |
Missense |
25/53 |
- |
1 |
X-107842049-G-A |
c.1897G>A |
p.E633K |
Missense |
25/53 |
- |
1 |
X-107842056-G-A |
c.1904G>A |
p.G635D |
Missense |
25/53 |
- |
1 |
X-107842064-G-A |
c.1912G>A |
p.G638S |
Missense |
25/53 |
- |
2 |
X-107842065-G-A |
c.1913G>A |
p.G638D |
Missense |
25/53 |
- |
1 |
X-107842083-G-A |
c.1931G>A |
p.G644D |
Missense |
25/53 |
- |
3 |
X-107842083-G-T |
c.1931G>T |
p.G644V |
Missense |
25/53 |
- |
1 |
X-107842085-C-T |
c.1933C>T |
p.Q645* |
Nonsense |
25/53 |
- |
1 |
X-107842091-G-A |
c.1939G>A |
p.G647R |
Missense |
25/53 |
- |
1 |
X-107842091-G-C |
c.1939G>C |
p.G647R |
Missense |
25/53 |
- |
1 |
X-107842092-G-T |
c.1940G>T |
p.G647V |
Missense |
25/53 |
- |
1 |
X-107842097-C-T |
c.1945C>T |
p.P649S |
Missense |
25/53 |
- |
1 |
X-107842100-G-A |
c.1948G>A |
p.G650S |
Missense |
25/53 |
- |
1 |
X-107842100-G-C |
c.1948G>C |
p.G650R |
Missense |
25/53 |
- |
1 |
X-107842100-G-T |
c.1948G>T |
p.G650C |
Missense |
25/53 |
- |
1 |
X-107842101-G-A |
c.1948+1G>A |
- |
IntronicSNV |
- |
25/52 |
1 |
X-107842101-G-T |
c.1948+1G>T |
- |
IntronicSNV |
- |
25/52 |
1 |
X-107844631-G-T |
c.1957G>T |
p.G653W |
Missense |
26/53 |
- |
1 |
X-107844634-G-T |
c.1960G>T |
p.D654Y |
Missense |
26/53 |
- |
1 |
X-107844666-G-A |
c.1992G>A |
p.K664= |
Synonymous |
26/53 |
- |
2 |
X-107844666-G-T |
c.1992G>T |
p.K664N |
Missense |
26/53 |
- |
2 |
X-107844679-G-A |
c.2005G>A |
p.G669S |
Missense |
26/53 |
- |
1 |
X-107844680-G-C |
c.2006G>C |
p.G669A |
Missense |
26/53 |
- |
3 |
X-107844689-G-A |
c.2015G>A |
p.G672D |
Missense |
26/53 |
- |
1 |
X-107844698-G-A |
c.2024G>A |
p.G675D |
Missense |
26/53 |
- |
1 |
X-107844706-G-T |
c.2032G>T |
p.G678C |
Missense |
26/53 |
- |
1 |
X-107845124-G-T |
c.2051G>T |
p.G684V |
Missense |
27/53 |
- |
1 |
X-107845128-T-C |
c.2055T>C |
p.L685= |
Synonymous |
27/53 |
- |
1 |
X-107845129-TCCAGGGCA-T |
c.2056_2063del |
p.P686Tfs*9 |
Frameshift |
27/53 |
- |
1 |
X-107845128-TC-T |
c.2057del |
p.P686Qfs*50 |
Frameshift |
27/53 |
- |
2 |
X-107845137-A-C |
c.2064A>C |
p.Q688H |
Missense |
27/53 |
- |
1 |
X-107845137-A-T |
c.2064A>T |
p.Q688H |
Missense |
27/53 |
- |
1 |
X-107845150-G-A |
c.2077G>A |
p.G693R |
Missense |
27/53 |
- |
1 |
X-107845151-G-T |
c.2078G>T |
p.G693V |
Missense |
27/53 |
- |
1 |
X-107845153-GA-G |
c.2080del |
p.I694Yfs*42 |
Frameshift |
27/53 |
- |
1 |
X-107845159-G-C |
c.2086G>C |
p.G696R |
Missense |
27/53 |
- |
1 |
X-107845160-G-A |
c.2087G>A |
p.G696D |
Missense |
27/53 |
- |
1 |
X-107845181-T-C |
c.2108T>C |
p.I703T |
Missense |
27/53 |
- |
1 |
X-107845187-G-A |
c.2114G>A |
p.G705E |
Missense |
27/53 |
- |
1 |
X-107845221-T-A |
c.2146+2T>A |
- |
IntronicSNV |
- |
27/52 |
1 |
X-107846202-G-A |
c.2155G>A |
p.G719R |
Missense |
28/53 |
- |
1 |
X-107846202-G-C |
c.2155G>C |
p.G719R |
Missense |
28/53 |
- |
1 |
X-107846211-GGA-AGC |
c.2164_2166delinsAGC |
p.G722S |
Missense |
28/53 |
- |
1 |
X-107846228-TG-T |
c.2184del |
p.T729Hfs*7 |
Frameshift |
28/53 |
- |
1 |
X-107846231-G-T |
c.2184G>T |
p.G728= |
Synonymous |
28/53 |
- |
1 |
X-107846262-C-A |
c.2215C>A |
p.P739T |
Missense |
28/53 |
- |
1 |
X-107846262-C-G |
c.2215C>G |
p.P739A |
Missense |
28/53 |
- |
2 |
X-107846262-C-T |
c.2215C>T |
p.P739S |
Missense |
28/53 |
- |
2 |
X-107846265-G-A |
c.2218G>A |
p.G740R |
Missense |
28/53 |
- |
1 |
X-107846265-G-C |
c.2218G>C |
p.G740R |
Missense |
28/53 |
- |
1 |
X-107846284-G-A |
c.2237G>A |
p.G746E |
Missense |
28/53 |
- |
1 |
X-107846291-G-T |
c.2244G>T |
p.K748N |
Missense |
28/53 |
- |
1 |
X-107849932-A-G |
c.2245-40A>G |
- |
IntronicSNV |
- |
28/52 |
1 |
X-107849982-G-A |
c.2255G>A |
p.G752E |
Missense |
29/53 |
- |
1 |
X-107849982-G-T |
c.2255G>T |
p.G752V |
Missense |
29/53 |
- |
1 |
X-107849989-A-G |
c.2262A>G |
p.A754= |
Synonymous |
29/53 |
- |
1 |
X-107849991-T-A |
c.2264T>A |
p.L755* |
Nonsense |
29/53 |
- |
2 |
X-107849991-T-G |
c.2264T>G |
p.L755* |
Nonsense |
29/53 |
- |
2 |
X-107850002-C-A |
c.2275C>A |
p.P759T |
Missense |
29/53 |
- |
1 |
X-107850014-G-A |
c.2287G>A |
p.G763R |
Missense |
29/53 |
- |
1 |
X-107850015-G-A |
c.2288G>A |
p.G763E |
Missense |
29/53 |
- |
3 |
X-107850033-G-T |
c.2306G>T |
p.G769V |
Missense |
29/53 |
- |
1 |
X-107850059-G-A |
c.2332G>A |
p.G778S |
Missense |
29/53 |
- |
1 |
X-107850059-G-C |
c.2332G>C |
p.G778R |
Missense |
29/53 |
- |
1 |
X-107850076-G-A |
c.2349G>A |
p.P783= |
Synonymous |
29/53 |
- |
2 |
X-107850077-G-C |
c.2350G>C |
p.G784R |
Missense |
29/53 |
- |
1 |
X-107850085-A-G |
c.2358A>G |
p.P786= |
Synonymous |
29/53 |
- |
1 |
X-107850086-G-A |
c.2359G>A |
p.G787R |
Missense |
29/53 |
- |
1 |
X-107850091-CACTGGCTTAGATGGGCTCCCTGG-C |
c.2367_2389del |
p.G790Kfs*3 |
Frameshift |
29/53 |
- |
1 |
X-107850092-ACTGGCTTAGATGGGCTCC-A |
c.2370_2387del |
p.L791_G796del |
InFrameDeletion |
29/53 |
- |
1 |
X-107850122-G-A |
c.2395G>A |
p.G799S |
Missense |
29/53 |
- |
1 |
X-107850123-G-A |
c.2395+1G>A |
- |
IntronicSNV |
- |
29/52 |
1 |
X-107850125-A-G |
c.2395+3A>G |
- |
IntronicSNV |
- |
29/52 |
1 |
X-107851397-C-G |
c.2395+1275C>G |
- |
IntronicSNV |
- |
29/52 |
1 |
X-107851414-G-T |
c.2395+1292G>T |
- |
IntronicSNV |
- |
29/52 |
1 |
X-107858141-G-A |
c.2396G>A |
p.G799D |
Missense |
30/53 |
- |
2 |
X-107858150-G-T |
c.2405G>T |
p.G802V |
Missense |
30/53 |
- |
1 |
X-107858158-G-A |
c.2413G>A |
p.G805R |
Missense |
30/53 |
- |
1 |
X-107858159-G-T |
c.2414G>T |
p.G805V |
Missense |
30/53 |
- |
1 |
X-107858161-C-T |
c.2416C>T |
p.Q806* |
Nonsense |
30/53 |
- |
1 |
X-107858165-C-G |
c.2420C>G |
p.P807R |
Missense |
30/53 |
- |
1 |
X-107858167-G-A |
c.2422G>A |
p.G808R |
Missense |
30/53 |
- |
1 |
X-107858167-G-C |
c.2422G>C |
p.G808R |
Missense |
30/53 |
- |
1 |
X-107858168-GACCA-G |
c.2425_2428del |
p.P809Wfs*9 |
Frameshift |
30/53 |
- |
1 |
X-107858188-C-T |
c.2443C>T |
p.L815= |
Synonymous |
30/53 |
- |
1 |
X-107858210-G-A |
c.2465G>A |
p.G822E |
Missense |
30/53 |
- |
1 |
X-107858216-C-CA |
c.2472dup |
p.G825Rfs*30 |
Frameshift |
30/53 |
- |
1 |
X-107858218-G-A |
c.2473G>A |
p.G825R |
Missense |
30/53 |
- |
1 |
X-107858218-G-T |
c.2473G>T |
p.G825* |
Nonsense |
30/53 |
- |
1 |
X-107858208-GGGACCACCA-G |
c.2475_2483del |
p.P826_G828del |
InFrameDeletion |
30/53 |
- |
1 |
X-107858220-AC-A |
c.2477del |
p.P826Hfs*8 |
Frameshift |
30/53 |
- |
1 |
X-107858227-G-A |
c.2482G>A |
p.G828R |
Missense |
30/53 |
- |
1 |
X-107858227-G-C |
c.2482G>C |
p.G828R |
Missense |
30/53 |
- |
1 |
X-107858254-G-A |
c.2509G>A |
p.G837S |
Missense |
30/53 |
- |
3 |
X-107863499-A-C |
c.2520A>C |
p.G840= |
Synonymous |
31/53 |
- |
1 |
X-107863499-A-G |
c.2520A>G |
p.G840= |
Synonymous |
31/53 |
- |
1 |
X-107863499-A-T |
c.2520A>T |
p.G840= |
Synonymous |
31/53 |
- |
1 |
X-107863525-G-A |
c.2546G>A |
p.G849E |
Missense |
31/53 |
- |
1 |
X-107863576-G-A |
c.2597G>A |
p.G866E |
Missense |
31/53 |
- |
1 |
X-107863578-A-AT |
c.2600dup |
p.G869Rfs*29 |
Frameshift |
31/53 |
- |
1 |
X-107863584-G-A |
c.2605G>A |
p.G869R |
Missense |
31/53 |
- |
10 |
X-107863584-G-C |
c.2605G>C |
p.G869R |
Missense |
31/53 |
- |
3 |
X-107863595-T-A |
c.2616T>A |
p.G872= |
Synonymous |
31/53 |
- |
1 |
X-107863595-T-C |
c.2616T>C |
p.G872= |
Synonymous |
31/53 |
- |
1 |
X-107863595-T-G |
c.2616T>G |
p.G872= |
Synonymous |
31/53 |
- |
1 |
X-107863604-GA-G |
c.2625del |
p.P876Lfs*25 |
Frameshift |
31/53 |
- |
1 |
X-107863612-G-A |
c.2633G>A |
p.G878E |
Missense |
31/53 |
- |
1 |
X-107863620-G-A |
c.2641G>A |
p.G881R |
Missense |
31/53 |
- |
1 |
X-107863637-AGGT-A |
c.2660_2662del |
p.G887del |
InFrameDeletion |
31/53 |
- |
1 |
X-107863641-G-T |
c.2662G>T |
p.A888S |
Missense |
31/53 |
- |
2 |
X-107863656-G-A |
c.2677G>A |
p.G893S |
Missense |
31/53 |
- |
1 |
X-107863656-G-C |
c.2677G>C |
p.G893R |
Missense |
31/53 |
- |
1 |
X-107863656-G-T |
c.2677G>T |
p.G893C |
Missense |
31/53 |
- |
1 |
X-107865033-G-T |
c.2678G>T |
p.G893V |
Missense |
32/53 |
- |
1 |
X-107865047-A-G |
c.2692A>G |
p.M898V |
Missense |
32/53 |
- |
1 |
X-107865069-G-A |
c.2714G>A |
p.G905D |
Missense |
32/53 |
- |
2 |
X-107865077-G-A |
c.2722G>A |
p.G908R |
Missense |
32/53 |
- |
2 |
X-107865077-G-C |
c.2722G>C |
p.G908R |
Missense |
32/53 |
- |
1 |
X-107865078-G-A |
c.2723G>A |
p.G908E |
Missense |
32/53 |
- |
1 |
X-107865086-G-A |
c.2731G>A |
p.G911R |
Missense |
32/53 |
- |
1 |
X-107865087-G-A |
c.2732G>A |
p.G911E |
Missense |
32/53 |
- |
1 |
X-107865096-G-A |
c.2741G>A |
p.G914D |
Missense |
32/53 |
- |
1 |
X-107865101-A-G |
c.2746A>G |
p.S916G |
Missense |
32/53 |
- |
1 |
X-107865104-G-T |
c.2749G>T |
p.G917C |
Missense |
32/53 |
- |
1 |
X-107865120-A-T |
c.2765A>T |
p.K922I |
Missense |
32/53 |
- |
1 |
X-107865122-G-C |
c.2767G>C |
p.G923R |
Missense |
32/53 |
- |
2 |
X-107865161-G-A |
c.2767+39G>A |
- |
IntronicSNV |
- |
32/52 |
1 |
X-107865895-A-G |
c.2768-11A>G |
- |
IntronicSNV |
- |
32/52 |
1 |
X-107865914-G-A |
c.2776G>A |
p.G926S |
Missense |
33/53 |
- |
1 |
X-107865913-TG-T |
c.2777del |
p.G926Afs*70 |
Frameshift |
33/53 |
- |
1 |
X-107865915-G-T |
c.2777G>T |
p.G926V |
Missense |
33/53 |
- |
2 |
X-107865920-C-T |
c.2782C>T |
p.Q928* |
Nonsense |
33/53 |
- |
2 |
X-107865926-C-T |
c.2788C>T |
p.Q930* |
Nonsense |
33/53 |
- |
1 |
X-107865935-C-T |
c.2797C>T |
p.L933F |
Missense |
33/53 |
- |
2 |
X-107865942-G-A |
c.2804G>A |
p.G935D |
Missense |
33/53 |
- |
2 |
X-107865942-G-T |
c.2804G>T |
p.G935V |
Missense |
33/53 |
- |
1 |
X-107865959-G-T |
c.2821G>T |
p.G941C |
Missense |
33/53 |
- |
1 |
X-107865960-G-A |
c.2822G>A |
p.G941D |
Missense |
33/53 |
- |
1 |
X-107865974-C-T |
c.2836C>T |
p.P946S |
Missense |
33/53 |
- |
1 |
X-107865996-G-T |
c.2858G>T |
p.G953V |
Missense |
33/53 |
- |
12 |
X-107866013-C-G |
c.2875C>G |
p.L959V |
Missense |
33/53 |
- |
1 |
X-107866028-G-T |
c.2890G>T |
p.G964* |
Nonsense |
33/53 |
- |
1 |
X-107866040-GA-G |
c.2904del |
p.E968Dfs*28 |
Frameshift |
33/53 |
- |
1 |
X-107866048-C-A |
c.2910C>A |
p.G970= |
Synonymous |
33/53 |
- |
1 |
X-107866048-C-G |
c.2910C>G |
p.G970= |
Synonymous |
33/53 |
- |
1 |
X-107866048-C-T |
c.2910C>T |
p.G970= |
Synonymous |
33/53 |
- |
1 |
X-107867466-G-A |
c.2918G>A |
p.G973D |
Missense |
34/53 |
- |
2 |
X-107867511-G-A |
c.2963G>A |
p.G988E |
Missense |
34/53 |
- |
1 |
X-107867506-GCCTGGAGACCCAGGGCAA-G |
c.2965_2982del |
p.D989_G994del |
InFrameDeletion |
34/53 |
- |
1 |
X-107867527-TG-T |
c.2981del |
p.G994Dfs*2 |
Frameshift |
34/53 |
- |
1 |
X-107867547-G-T |
c.2999G>T |
p.G1000V |
Missense |
34/53 |
- |
7 |
X-107868935-G-A |
c.3017G>A |
p.G1006D |
Missense |
35/53 |
- |
1 |
X-107868935-G-T |
c.3017G>T |
p.G1006V |
Missense |
35/53 |
- |
2 |
X-107868947-A-G |
c.3029A>G |
p.N1010S |
Missense |
35/53 |
- |
2 |
X-107868953-G-A |
c.3035G>A |
p.G1012D |
Missense |
35/53 |
- |
1 |
X-107868964-C-T |
c.3046C>T |
p.Q1016* |
Nonsense |
35/53 |
- |
1 |
X-107868988-G-A |
c.3070G>A |
p.G1024R |
Missense |
35/53 |
- |
1 |
X-107868989-G-A |
c.3071G>A |
p.G1024E |
Missense |
35/53 |
- |
2 |
X-107868998-G-T |
c.3080G>T |
p.G1027V |
Missense |
35/53 |
- |
1 |
X-107869006-G-A |
c.3088G>A |
p.G1030S |
Missense |
35/53 |
- |
5 |
X-107869009-GAT-G |
c.3094_3095del |
p.M1032Gfs*35 |
Frameshift |
35/53 |
- |
1 |
X-107869015-G-C |
c.3097G>C |
p.G1033R |
Missense |
35/53 |
- |
2 |
X-107869024-G-A |
c.3106G>A |
p.G1036R |
Missense |
35/53 |
- |
1 |
X-107869025-G-A |
c.3106+1G>A |
- |
IntronicSNV |
- |
35/52 |
1 |
X-107869457-G-GC |
c.3124_3125insC |
p.G1042Afs*26 |
Frameshift |
36/53 |
- |
1 |
X-107869487-C-T |
c.3154C>T |
p.Q1052* |
Nonsense |
36/53 |
- |
2 |
X-107869503-G-A |
c.3170G>A |
p.G1057E |
Missense |
36/53 |
- |
1 |
X-107869511-G-T |
c.3178G>T |
p.G1060* |
Nonsense |
36/53 |
- |
2 |
X-107869512-G-A |
c.3179G>A |
p.G1060E |
Missense |
36/53 |
- |
1 |
X-107869514-C-T |
c.3181C>T |
p.Q1061* |
Nonsense |
36/53 |
- |
1 |
X-107869534-TC-T |
c.3203del |
p.P1068Lfs*84 |
Frameshift |
36/53 |
- |
1 |
X-107869545-C-A |
c.3212C>A |
p.S1071* |
Nonsense |
36/53 |
- |
1 |
X-107869545-C-G |
c.3212C>G |
p.S1071* |
Nonsense |
36/53 |
- |
1 |
X-107869688-T-G |
c.3246+109T>G |
- |
IntronicSNV |
- |
36/52 |
1 |
X-107898565-A-C |
c.3251A>C |
p.E1084A |
Missense |
37/53 |
- |
1 |
X-107898580-G-A |
c.3266G>A |
p.G1089E |
Missense |
37/53 |
- |
1 |
X-107898582-T-C |
c.3268T>C |
p.Y1090H |
Missense |
37/53 |
- |
1 |
X-107898584-C-A |
c.3270C>A |
p.Y1090* |
Nonsense |
37/53 |
- |
1 |
X-107898587-AG-A |
c.3276del |
p.N1093Tfs*59 |
Frameshift |
37/53 |
- |
1 |
X-107898594-C-T |
c.3280C>T |
p.P1094S |
Missense |
37/53 |
- |
1 |
X-107898603-A-T |
c.3289A>T |
p.K1097* |
Nonsense |
37/53 |
- |
2 |
X-107898605-AG-A |
c.3293del |
p.G1098Vfs*54 |
Frameshift |
37/53 |
- |
1 |
X-107898607-G-A |
c.3293G>A |
p.G1098D |
Missense |
37/53 |
- |
1 |
X-107898607-GT-G |
c.3295del |
p.S1099Lfs*53 |
Frameshift |
37/53 |
- |
1 |
X-107898619-ATCCTGGTT-A |
c.3307_3314del |
p.P1103Afs*31 |
Frameshift |
37/53 |
- |
1 |
X-107898624-G-T |
c.3310G>T |
p.G1104C |
Missense |
37/53 |
- |
1 |
X-107898633-G-A |
c.3319G>A |
p.G1107R |
Missense |
37/53 |
- |
3 |
X-107898633-G-C |
c.3319G>C |
p.G1107R |
Missense |
37/53 |
- |
1 |
X-107898637-T-TACCAGCAA |
c.3328_3329insCAAACCAG |
p.G1110Afs*45 |
Frameshift |
37/53 |
- |
1 |
X-107898641-AG-A |
c.3329del |
p.G1110Efs*42 |
Frameshift |
37/53 |
- |
1 |
X-107898670-G-C |
c.3356G>C |
p.G1119A |
Missense |
37/53 |
- |
1 |
X-107898687-G-A |
c.3373G>A |
p.G1125R |
Missense |
37/53 |
- |
1 |
X-107908746-G-A |
c.3383G>A |
p.G1128D |
Missense |
38/53 |
- |
1 |
X-107908781-G-C |
c.3418G>C |
p.G1140R |
Missense |
38/53 |
- |
1 |
X-107908782-G-T |
c.3419G>T |
p.G1140V |
Missense |
38/53 |
- |
1 |
X-107908790-G-A |
c.3427G>A |
p.G1143S |
Missense |
38/53 |
- |
4 |
X-107908791-G-A |
c.3428G>A |
p.G1143D |
Missense |
38/53 |
- |
1 |
X-107908791-G-T |
c.3428G>T |
p.G1143V |
Missense |
38/53 |
- |
1 |
X-107908800-G-A |
c.3437G>A |
p.G1146E |
Missense |
38/53 |
- |
1 |
X-107908809-G-T |
c.3446G>T |
p.G1149V |
Missense |
38/53 |
- |
2 |
X-107909750-C-A |
c.3479C>A |
p.P1160Q |
Missense |
39/53 |
- |
1 |
X-107909753-G-A |
c.3482G>A |
p.G1161E |
Missense |
39/53 |
- |
2 |
X-107909770-G-A |
c.3499G>A |
p.G1167S |
Missense |
39/53 |
- |
1 |
X-107909779-G-A |
c.3508G>A |
p.G1170S |
Missense |
39/53 |
- |
6 |
X-107909779-G-C |
c.3508G>C |
p.G1170R |
Missense |
39/53 |
- |
1 |
X-107909780-G-T |
c.3509G>T |
p.G1170V |
Missense |
39/53 |
- |
1 |
X-107909784-A-G |
c.3513A>G |
p.Q1171= |
Synonymous |
39/53 |
- |
1 |
X-107909809-C-T |
c.3538C>T |
p.Q1180* |
Nonsense |
39/53 |
- |
1 |
X-107909810-A-ACCGT |
c.3539_3540insCCGT |
p.Q1180Hfs*5 |
Frameshift |
39/53 |
- |
1 |
X-107910380-A-G |
c.3571A>G |
p.N1191D |
Missense |
40/53 |
- |
1 |
X-107910414-G-A |
c.3604+1G>A |
- |
IntronicSNV |
- |
40/52 |
1 |
X-107911558-G-T |
c.3614G>T |
p.G1205V |
Missense |
41/53 |
- |
1 |
X-107911558-GT-AG |
c.3614_3615delinsAG |
p.G1205E |
Missense |
41/53 |
- |
1 |
X-107911571-A-G |
c.3627A>G |
p.L1209= |
Synonymous |
41/53 |
- |
1 |
X-107911603-G-A |
c.3659G>A |
p.G1220D |
Missense |
41/53 |
- |
2 |
X-107911603-G-T |
c.3659G>T |
p.G1220V |
Missense |
41/53 |
- |
1 |
X-107911605-C-A |
c.3661C>A |
p.P1221T |
Missense |
41/53 |
- |
1 |
X-107911629-G-A |
c.3685G>A |
p.G1229S |
Missense |
41/53 |
- |
1 |
X-107911629-G-T |
c.3685G>T |
p.G1229C |
Missense |
41/53 |
- |
1 |
X-107911639-G-A |
c.3695G>A |
p.G1232D |
Missense |
41/53 |
- |
1 |
X-107911639-G-C |
c.3695G>C |
p.G1232A |
Missense |
41/53 |
- |
1 |
X-107911644-C-T |
c.3700C>T |
p.Q1234* |
Nonsense |
41/53 |
- |
4 |
X-107911648-G-A |
c.3704G>A |
p.G1235D |
Missense |
41/53 |
- |
1 |
X-107911648-G-C |
c.3704G>C |
p.G1235A |
Missense |
41/53 |
- |
1 |
X-107911657-G-A |
c.3713G>A |
p.G1238D |
Missense |
41/53 |
- |
1 |
X-107911675-G-A |
c.3731G>A |
p.G1244D |
Missense |
41/53 |
- |
1 |
X-107911689-G-T |
c.3745G>T |
p.G1249* |
Nonsense |
41/53 |
- |
1 |
X-107911688-AG-A |
c.3746del |
p.G1249Dfs*56 |
Frameshift |
41/53 |
- |
1 |
X-107911710-C-T |
c.3766C>T |
p.P1256S |
Missense |
41/53 |
- |
1 |
X-107911725-G-A |
c.3781G>A |
p.G1261R |
Missense |
41/53 |
- |
1 |
X-107911734-G-A |
c.3790G>A |
p.G1264S |
Missense |
41/53 |
- |
3 |
X-107911734-G-C |
c.3790G>C |
p.G1264R |
Missense |
41/53 |
- |
1 |
X-107913458-G-A |
c.3791G>A |
p.G1264D |
Missense |
42/53 |
- |
1 |
X-107920750-C-A |
c.3829C>A |
p.P1277T |
Missense |
44/53 |
- |
1 |
X-107920804-C-T |
c.3883C>T |
p.Q1295* |
Nonsense |
44/53 |
- |
1 |
X-107920825-C-T |
c.3904C>T |
p.P1302S |
Missense |
44/53 |
- |
1 |
X-107920856-G-C |
c.3935G>C |
p.G1312A |
Missense |
44/53 |
- |
1 |
X-107923924-C-T |
c.3958C>T |
p.P1320S |
Missense |
45/53 |
- |
1 |
X-107923936-GGA-AGC |
c.3970_3972delinsAGC |
p.G1324S |
Missense |
45/53 |
- |
1 |
X-107923937-G-C |
c.3971G>C |
p.G1324A |
Missense |
45/53 |
- |
1 |
X-107923946-G-T |
c.3980G>T |
p.G1327V |
Missense |
45/53 |
- |
1 |
X-107923951-C-T |
c.3985C>T |
p.P1329S |
Missense |
45/53 |
- |
1 |
X-107923956-GTCTCCCTGGTGTTCCAGGATTCCCAGGTATTTGAAGGGATTTTTGTGGTTTCCCTTTAT-G |
c.3990_4015+33del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
45/53 |
45/52 |
1 |
X-107923963-G-A |
c.3997G>A |
p.G1333S |
Missense |
45/53 |
- |
1 |
X-107923969-C-A |
c.4003C>A |
p.P1335T |
Missense |
45/53 |
- |
1 |
X-107923972-G-T |
c.4006G>T |
p.G1336* |
Nonsense |
45/53 |
- |
1 |
X-107924123-G-A |
c.4024G>A |
p.G1342R |
Missense |
46/53 |
- |
1 |
X-107924123-G-C |
c.4024G>C |
p.G1342R |
Missense |
46/53 |
- |
1 |
X-107924123-G-T |
c.4024G>T |
p.G1342* |
Nonsense |
46/53 |
- |
1 |
X-107924127-C-T |
c.4028C>T |
p.P1343L |
Missense |
46/53 |
- |
1 |
X-107924133-G-A |
c.4034G>A |
p.G1345E |
Missense |
46/53 |
- |
1 |
X-107924133-G-T |
c.4034G>T |
p.G1345V |
Missense |
46/53 |
- |
1 |
X-107924141-G-A |
c.4042G>A |
p.G1348R |
Missense |
46/53 |
- |
1 |
X-107924141-G-C |
c.4042G>C |
p.G1348R |
Missense |
46/53 |
- |
1 |
X-107924151-G-A |
c.4052G>A |
p.G1351D |
Missense |
46/53 |
- |
1 |
X-107924157-AG-A |
c.4063del |
p.E1355Nfs*22 |
Frameshift |
46/53 |
- |
1 |
X-107924162-GAA-AAC |
c.4063_4065delinsAAC |
p.E1355N |
Missense |
46/53 |
- |
1 |
X-107924168-G-A |
c.4069G>A |
p.G1357R |
Missense |
46/53 |
- |
1 |
X-107924168-G-C |
c.4069G>C |
p.G1357R |
Missense |
46/53 |
- |
1 |
X-107924177-G-T |
c.4078G>T |
p.G1360C |
Missense |
46/53 |
- |
1 |
X-107925014-TC-T |
c.4112del |
p.S1371* |
Frameshift |
47/53 |
- |
1 |
X-107925038-G-C |
c.4136G>C |
p.G1379A |
Missense |
47/53 |
- |
1 |
X-107925049-C-T |
c.4147C>T |
p.P1383S |
Missense |
47/53 |
- |
1 |
X-107925088-C-T |
c.4186C>T |
p.P1396S |
Missense |
47/53 |
- |
1 |
X-107925100-G-C |
c.4198G>C |
p.G1400R |
Missense |
47/53 |
- |
1 |
X-107925118-G-C |
c.4216G>C |
p.G1406R |
Missense |
47/53 |
- |
1 |
X-107929267-C-G |
c.4223C>G |
p.T1408S |
Missense |
48/53 |
- |
1 |
X-107929288-GA-AC |
c.4244_4245delinsAC |
p.G1415D |
Missense |
48/53 |
- |
1 |
X-107929337-C-T |
c.4293C>T |
p.D1431= |
Synonymous |
48/53 |
- |
1 |
X-107929341-G-A |
c.4297G>A |
p.G1433S |
Missense |
48/53 |
- |
1 |
X-107929341-G-C |
c.4297G>C |
p.G1433R |
Missense |
48/53 |
- |
1 |
X-107929342-G-T |
c.4298G>T |
p.G1433V |
Missense |
48/53 |
- |
2 |
X-107929353-C-G |
c.4309C>G |
p.Q1437E |
Missense |
48/53 |
- |
1 |
X-107929359-G-C |
c.4315G>C |
p.G1439R |
Missense |
48/53 |
- |
1 |
X-107930741-C-T |
c.4345C>T |
p.P1449S |
Missense |
49/53 |
- |
1 |
X-107930748-GA-AC |
c.4352_4353delinsAC |
p.G1451D |
Missense |
49/53 |
- |
1 |
X-107930792-C-T |
c.4396C>T |
p.H1466Y |
Missense |
49/53 |
- |
1 |
X-107930801-C-T |
c.4405C>T |
p.L1469F |
Missense |
49/53 |
- |
1 |
X-107930810-C-T |
c.4414C>T |
p.R1472C |
Missense |
49/53 |
- |
1 |
X-107930833-AC-A |
c.4439del |
p.P1480Hfs*74 |
Frameshift |
49/53 |
- |
1 |
X-107930835-CA-AT |
c.4439_4440delinsAT |
p.P1480H |
Missense |
49/53 |
- |
1 |
X-107930867-G-T |
c.4471G>T |
p.E1491* |
Nonsense |
49/53 |
- |
1 |
X-107930891-C-T |
c.4495C>T |
p.Q1499* |
Nonsense |
49/53 |
- |
1 |
X-107930911-C-T |
c.4515C>T |
p.H1505= |
Synonymous |
49/53 |
- |
1 |
X-107935982-G-A |
c.4533G>A |
p.T1511= |
Synonymous |
50/53 |
- |
1 |
X-107935998-C-A |
c.4549C>A |
p.R1517S |
Missense |
50/53 |
- |
1 |
X-107936016-C-A |
c.4567C>A |
p.P1523T |
Missense |
50/53 |
- |
1 |
X-107936078-C-A |
c.4629C>A |
p.Y1543* |
Nonsense |
50/53 |
- |
2 |
X-107936078-C-G |
c.4629C>G |
p.Y1543* |
Nonsense |
50/53 |
- |
1 |
X-107936096-G-GCA |
c.4648_4649insAC |
p.P1550Hfs*5 |
Frameshift |
50/53 |
- |
1 |
X-107936121-C-T |
c.4672C>T |
p.L1558= |
Synonymous |
50/53 |
- |
1 |
X-107936155-G-A |
c.4706G>A |
p.R1569Q |
Missense |
50/53 |
- |
2 |
X-107938050-G-T |
c.4720G>T |
p.E1574* |
Nonsense |
51/53 |
- |
1 |
X-107938071-G-A |
c.4741G>A |
p.A1581T |
Missense |
51/53 |
- |
1 |
X-107938071-G-T |
c.4741G>T |
p.A1581S |
Missense |
51/53 |
- |
1 |
X-107938072-C-T |
c.4742C>T |
p.A1581V |
Missense |
51/53 |
- |
1 |
X-107938099-C-T |
c.4769C>T |
p.P1590L |
Missense |
51/53 |
- |
1 |
X-107938104-T-C |
c.4774T>C |
p.C1592R |
Missense |
51/53 |
- |
1 |
X-107938113-G-A |
c.4783G>A |
p.G1595R |
Missense |
51/53 |
- |
1 |
X-107938113-G-C |
c.4783G>C |
p.G1595R |
Missense |
51/53 |
- |
1 |
X-107938111-AG-A |
c.4784del |
p.G1595Dfs*12 |
Frameshift |
51/53 |
- |
1 |
X-107938117-G-A |
c.4787G>A |
p.W1596* |
Nonsense |
51/53 |
- |
1 |
X-107938117-G-T |
c.4787G>T |
p.W1596L |
Missense |
51/53 |
- |
2 |
X-107938121-T-G |
c.4791T>G |
p.D1597E |
Missense |
51/53 |
- |
1 |
X-107938549-C-T |
c.4874C>T |
p.S1625F |
Missense |
52/53 |
- |
1 |
X-107938569-TC-AG |
c.4894_4895delinsAG |
p.S1632R |
Missense |
52/53 |
- |
1 |
X-107938570-C-A |
c.4895C>A |
p.S1632* |
Nonsense |
52/53 |
- |
1 |
X-107938570-CA-GG |
c.4895_4896delinsGG |
p.S1632W |
Missense |
52/53 |
- |
1 |
X-107938570-CA-GT |
c.4895_4896delinsGT |
p.S1632C |
Missense |
52/53 |
- |
1 |
X-107938570-C-G |
c.4895C>G |
p.S1632* |
Nonsense |
52/53 |
- |
1 |
X-107938588-G-A |
c.4913G>A |
p.C1638Y |
Missense |
52/53 |
- |
3 |
X-107938636-G-A |
c.4961G>A |
p.W1654* |
Nonsense |
52/53 |
- |
1 |
X-107938637-G-A |
c.4962G>A |
p.W1654* |
Nonsense |
52/53 |
- |
1 |
X-107938639-T-G |
c.4964T>G |
p.L1655R |
Missense |
52/53 |
- |
2 |
X-107938657-C-A |
c.4982C>A |
p.S1661* |
Nonsense |
52/53 |
- |
1 |
X-107938657-C-G |
c.4982C>G |
p.S1661* |
Nonsense |
52/53 |
- |
1 |
X-107939570-C-T |
c.5038C>T |
p.R1680* |
Nonsense |
53/53 |
- |
1 |
X-107939579-C-A |
c.5047C>A |
p.R1683= |
Synonymous |
53/53 |
- |
1 |
X-107939579-CGA-TGG |
c.5047_5049delinsTGG |
p.R1683W |
Missense |
53/53 |
- |
1 |
X-107939579-CGA-TGT |
c.5047_5049delinsTGT |
p.R1683C |
Missense |
53/53 |
- |
1 |
X-107939579-C-T |
c.5047C>T |
p.R1683* |
Nonsense |
53/53 |
- |
1 |
X-107939581-A-C |
c.5049A>C |
p.R1683= |
Synonymous |
53/53 |
- |
1 |
X-107939581-A-G |
c.5049A>G |
p.R1683= |
Synonymous |
53/53 |
- |
1 |
X-107939581-A-T |
c.5049A>T |
p.R1683= |
Synonymous |
53/53 |
- |
1 |
X-107939580-G-A |
c.5048G>A |
p.R1683Q |
Missense |
53/53 |
- |
2 |
X-107939580-G-C |
c.5048G>C |
p.R1683P |
Missense |
53/53 |
- |
1 |
X-107939580-G-T |
c.5048G>T |
p.R1683L |
Missense |
53/53 |
- |
1 |
X-107939582-T-C |
c.5050T>C |
p.C1684R |
Missense |
53/53 |
- |
1 |
X-107939583-G-A |
c.5051G>A |
p.C1684Y |
Missense |
53/53 |
- |
1 |
X-107939584-T-A |
c.5052T>A |
p.C1684* |
Nonsense |
53/53 |
- |
1 |
X-107939584-T-C |
c.5052T>C |
p.C1684= |
Synonymous |
53/53 |
- |
1 |
X-107939584-T-G |
c.5052T>G |
p.C1684W |
Missense |
53/53 |
- |
1 |
X-107939585-C-T |
c.5053C>T |
p.Q1685* |
Nonsense |
53/53 |
- |
1 |
X-107939597-AAG-TAT |
c.5065_5067delinsTAT |
p.K1689Y |
Missense |
53/53 |
- |
1 |
X-107939597-A-C |
c.5065A>C |
p.K1689Q |
Missense |
53/53 |
- |
1 |
X-107939597-A-T |
c.5065A>T |
p.K1689* |
Nonsense |
53/53 |
- |
1 |