13-38136832-C-G |
c.*638G>C |
- |
3-UTRSNV |
23/23 |
- |
1 |
13-38137407-A-G |
c.*63T>C |
- |
3-UTRSNV |
23/23 |
- |
1 |
13-38137471-C-T |
c.2510G>A |
p.*837= |
Synonymous |
23/23 |
- |
1 |
13-38137477-G-A |
c.2504C>T |
p.S835F |
Missense |
23/23 |
- |
2 |
13-38137479-A-T |
c.2502T>A |
p.R834= |
Synonymous |
23/23 |
- |
1 |
13-38137480-C-T |
c.2501G>A |
p.R834H |
Missense |
23/23 |
- |
2 |
13-38137481-G-A |
c.2500C>T |
p.R834C |
Missense |
23/23 |
- |
1 |
13-38137481-G-T |
c.2500C>A |
p.R834S |
Missense |
23/23 |
- |
1 |
13-38137483-C-G |
c.2498G>C |
p.G833A |
Missense |
23/23 |
- |
1 |
13-38137487-C-T |
c.2494G>A |
p.E832K |
Missense |
23/23 |
- |
7 |
13-38137488-C-T |
c.2493G>A |
p.R831= |
Synonymous |
23/23 |
- |
1 |
13-38137489-C-T |
c.2492G>A |
p.R831K |
Missense |
23/23 |
- |
5 |
13-38137495-C-T |
c.2486G>A |
p.R829Q |
Missense |
23/23 |
- |
6 |
13-38137496-G-A |
c.2485C>T |
p.R829* |
Nonsense |
23/23 |
- |
2 |
13-38137497-TCT-CCA |
c.2482_2484delinsTGG |
p.R828W |
Missense |
23/23 |
- |
1 |
13-38137498-C-T |
c.2483G>A |
p.R828K |
Missense |
23/23 |
- |
1 |
13-38137503-A-C |
c.2478T>G |
p.S826= |
Synonymous |
23/23 |
- |
2 |
13-38137503-A-G |
c.2478T>C |
p.S826= |
Synonymous |
23/23 |
- |
2 |
13-38137503-A-T |
c.2478T>A |
p.S826= |
Synonymous |
23/23 |
- |
2 |
13-38137504-G-A |
c.2477C>T |
p.S826F |
Missense |
23/23 |
- |
1 |
13-38137504-GA-CC |
c.2476_2477delinsGG |
p.S826G |
Missense |
23/23 |
- |
1 |
13-38137507-C-T |
c.2474G>A |
p.G825E |
Missense |
23/23 |
- |
9 |
13-38138330-T-C |
c.2473+326A>G |
- |
IntronicSNV |
- |
22/22 |
1 |
13-38138367-G-A |
c.2473+289C>T |
- |
IntronicSNV |
- |
22/22 |
1 |
13-38138655-C-T |
c.2473+1G>A |
- |
IntronicSNV |
- |
22/22 |
2 |
13-38138659-G-C |
c.2470C>G |
p.Q824E |
Missense |
22/23 |
- |
1 |
13-38138659-G-T |
c.2470C>A |
p.Q824K |
Missense |
22/23 |
- |
1 |
13-38138661-A-AT |
c.2467_2468insA |
p.V823Dfs*5 |
Frameshift |
22/23 |
- |
1 |
13-38138662-C-G |
c.2467G>C |
p.V823L |
Missense |
22/23 |
- |
1 |
13-38138663-T-G |
c.2466A>C |
p.K822N |
Missense |
22/23 |
- |
2 |
13-38138664-T-A |
c.2465A>T |
p.K822I |
Missense |
22/23 |
- |
6 |
13-38138667-T-C |
c.2462A>G |
p.K821R |
Missense |
22/23 |
- |
2 |
13-38138662-C-CT |
c.2466dup |
p.V823Sfs*5 |
Frameshift |
22/23 |
- |
5 |
13-38138662-CT-C |
c.2466del |
p.V823Ffs*8 |
Frameshift |
22/23 |
- |
1 |
13-38138674-C-A |
c.2455G>T |
p.A819S |
Missense |
22/23 |
- |
2 |
13-38138674-C-T |
c.2455G>A |
p.A819T |
Missense |
22/23 |
- |
1 |
13-38138674-C-CT |
c.2454dup |
p.A819Sfs*9 |
Frameshift |
22/23 |
- |
1 |
13-38138676-T-A |
c.2453A>T |
p.Q818L |
Missense |
22/23 |
- |
1 |
13-38138677-G-A |
c.2452C>T |
p.Q818* |
Nonsense |
22/23 |
- |
1 |
13-38138683-T-A |
c.2446A>T |
p.K816* |
Nonsense |
22/23 |
- |
1 |
13-38138689-C-T |
c.2440G>A |
p.V814M |
Missense |
22/23 |
- |
19 |
13-38138690-G-A |
c.2439C>T |
p.P813= |
Synonymous |
22/23 |
- |
2 |
13-38138690-G-C |
c.2439C>G |
p.P813= |
Synonymous |
22/23 |
- |
1 |
13-38138690-G-T |
c.2439C>A |
p.P813= |
Synonymous |
22/23 |
- |
1 |
13-38138691-G-A |
c.2438C>T |
p.P813L |
Missense |
22/23 |
- |
6 |
13-38138694-G-A |
c.2435C>T |
p.T812I |
Missense |
22/23 |
- |
1 |
13-38138730-C-A |
c.2432-33G>T |
- |
IntronicSNV |
- |
21/22 |
9 |
13-38138730-C-T |
c.2432-33G>A |
- |
IntronicSNV |
- |
21/22 |
9 |
13-38138779-G-GTAAA |
c.2432-86_2432-83dup |
- |
IntronicInsertion |
- |
21/22 |
1 |
13-38139260-G-A |
c.2432-563C>T |
- |
IntronicSNV |
- |
21/22 |
3 |
13-38139260-G-T |
c.2432-563C>A |
- |
IntronicSNV |
- |
21/22 |
3 |
13-38140802-G-A |
c.2432-2105C>T |
- |
IntronicSNV |
- |
21/22 |
1 |
13-38140879-A-T |
c.2432-2182T>A |
- |
IntronicSNV |
- |
21/22 |
1 |
13-38141222-C-A |
c.2431+2215G>T |
- |
IntronicSNV |
- |
21/22 |
1 |
13-38141417-G-A |
c.2431+2020C>T |
- |
IntronicSNV |
- |
21/22 |
1 |
13-38142146-G-A |
c.2431+1291C>T |
- |
IntronicSNV |
- |
21/22 |
1 |
13-38142730-G-A |
c.2431+707C>T |
- |
IntronicSNV |
- |
21/22 |
1 |
13-38143084-T-A |
c.2431+353A>T |
- |
IntronicSNV |
- |
21/22 |
1 |
13-38143326-T-G |
c.2431+111A>C |
- |
IntronicSNV |
- |
21/22 |
2 |
13-38143325-CT-C |
c.2431+111del |
- |
IntronicDeletion |
- |
21/22 |
3 |
13-38143414-T-C |
c.2431+23A>G |
- |
IntronicSNV |
- |
21/22 |
1 |
13-38143419-T-A |
c.2431+18A>T |
- |
IntronicSNV |
- |
21/22 |
1 |
13-38143436-C-T |
c.2431+1G>A |
- |
IntronicSNV |
- |
21/22 |
1 |
13-38143437-C-A |
c.2431G>T |
p.D811Y |
Missense |
21/23 |
- |
1 |
13-38143437-C-T |
c.2431G>A |
p.D811N |
Missense |
21/23 |
- |
1 |
13-38143443-G-C |
c.2425C>G |
p.Q809E |
Missense |
21/23 |
- |
3 |
13-38143446-G-C |
c.2422C>G |
p.L808V |
Missense |
21/23 |
- |
1 |
13-38143449-G-A |
c.2419C>T |
p.L807= |
Synonymous |
21/23 |
- |
1 |
13-38143450-T-A |
c.2418A>T |
p.R806S |
Missense |
21/23 |
- |
1 |
13-38143451-C-A |
c.2417G>T |
p.R806I |
Missense |
21/23 |
- |
2 |
13-38143461-C-T |
c.2407G>A |
p.E803K |
Missense |
21/23 |
- |
5 |
13-38143462-T-G |
c.2406A>C |
p.E802D |
Missense |
21/23 |
- |
2 |
13-38143464-C-A |
c.2404G>T |
p.E802* |
Nonsense |
21/23 |
- |
1 |
13-38143464-C-T |
c.2404G>A |
p.E802K |
Missense |
21/23 |
- |
4 |
13-38143466-T-G |
c.2402A>C |
p.D801A |
Missense |
21/23 |
- |
1 |
13-38143470-C-A |
c.2398G>T |
p.E800* |
Nonsense |
21/23 |
- |
1 |
13-38143472-A-C |
c.2396T>G |
p.F799C |
Missense |
21/23 |
- |
4 |
13-38143472-A-G |
c.2396T>C |
p.F799S |
Missense |
21/23 |
- |
10 |
13-38143481-C-T |
c.2387G>A |
p.G796D |
Missense |
21/23 |
- |
1 |
13-38143490-C-A |
c.2378G>T |
p.G793V |
Missense |
21/23 |
- |
1 |
13-38143490-C-T |
c.2378G>A |
p.G793D |
Missense |
21/23 |
- |
3 |
13-38143500-ATTTGGTGACC-A |
c.2358_2367del |
p.K786Nfs*26 |
Frameshift |
21/23 |
- |
2 |
13-38143504-G-T |
c.2364C>A |
p.T788= |
Synonymous |
21/23 |
- |
1 |
13-38143505-GT-CA |
c.2362_2363delinsTG |
p.T788C |
Missense |
21/23 |
- |
1 |
13-38143507-G-A |
c.2361C>T |
p.V787= |
Synonymous |
21/23 |
- |
1 |
13-38143507-GAC-CAT |
c.2359_2361delinsATG |
p.V787M |
Missense |
21/23 |
- |
5 |
13-38143507-G-C |
c.2361C>G |
p.V787= |
Synonymous |
21/23 |
- |
1 |
13-38143507-G-T |
c.2361C>A |
p.V787= |
Synonymous |
21/23 |
- |
1 |
13-38143508-A-C |
c.2360T>G |
p.V787G |
Missense |
21/23 |
- |
1 |
13-38143509-C-T |
c.2359G>A |
p.V787I |
Missense |
21/23 |
- |
1 |
13-38143511-T-A |
c.2357A>T |
p.K786M |
Missense |
21/23 |
- |
1 |
13-38143511-T-C |
c.2357A>G |
p.K786R |
Missense |
21/23 |
- |
1 |
13-38143501-TTTGGTGACC-T |
c.2358_2366del |
p.V787_K789del |
InFrameDeletion |
21/23 |
- |
1 |
13-38143514-G-A |
c.2354C>T |
p.T785I |
Missense |
21/23 |
- |
1 |
13-38143515-T-C |
c.2353A>G |
p.T785A |
Missense |
21/23 |
- |
2 |
13-38143516-G-A |
c.2352C>T |
p.V784= |
Synonymous |
21/23 |
- |
1 |
13-38143519-C-T |
c.2349G>A |
p.E783= |
Synonymous |
21/23 |
- |
4 |
13-38143523-G-A |
c.2348-3C>T |
- |
IntronicSNV |
- |
20/22 |
1 |
13-38143586-G-A |
c.2348-66C>T |
- |
IntronicSNV |
- |
20/22 |
7 |
13-38143882-T-G |
c.2346A>C |
p.E782D |
Missense |
20/23 |
- |
1 |
13-38143884-C-T |
c.2344G>A |
p.E782K |
Missense |
20/23 |
- |
1 |
13-38143888-T-A |
c.2340A>T |
p.L780F |
Missense |
20/23 |
- |
1 |
13-38143888-T-G |
c.2340A>C |
p.L780F |
Missense |
20/23 |
- |
1 |
13-38143892-A-T |
c.2336T>A |
p.L779* |
Nonsense |
20/23 |
- |
1 |
13-38143893-A-T |
c.2335T>A |
p.L779M |
Missense |
20/23 |
- |
1 |
13-38143897-C-T |
c.2331G>A |
p.K777= |
Synonymous |
20/23 |
- |
2 |
13-38143897-TCTTCAGAG-T |
c.2324_2331del |
p.T775Kfs*15 |
Frameshift |
20/23 |
- |
1 |
13-38143898-T-A |
c.2330A>T |
p.K777M |
Missense |
20/23 |
- |
1 |
13-38143903-A-C |
c.2325T>G |
p.T775= |
Synonymous |
20/23 |
- |
2 |
13-38143903-A-G |
c.2325T>C |
p.T775= |
Synonymous |
20/23 |
- |
3 |
13-38143903-A-T |
c.2325T>A |
p.T775= |
Synonymous |
20/23 |
- |
2 |
13-38143908-C-CA |
c.2319_2320insT |
p.E774* |
Nonsense |
20/23 |
- |
1 |
13-38143908-C-G |
c.2320G>C |
p.E774Q |
Missense |
20/23 |
- |
1 |
13-38143909-T-C |
c.2319A>G |
p.E773= |
Synonymous |
20/23 |
- |
2 |
13-38143911-C-T |
c.2317G>A |
p.E773K |
Missense |
20/23 |
- |
5 |
13-38143919-C-T |
c.2309G>A |
p.G770E |
Missense |
20/23 |
- |
5 |
13-38143921-A-C |
c.2307T>G |
p.G769= |
Synonymous |
20/23 |
- |
1 |
13-38143921-A-G |
c.2307T>C |
p.G769= |
Synonymous |
20/23 |
- |
1 |
13-38143921-A-T |
c.2307T>A |
p.G769= |
Synonymous |
20/23 |
- |
1 |
13-38143922-C-A |
c.2306G>T |
p.G769V |
Missense |
20/23 |
- |
1 |
13-38143923-C-T |
c.2305G>A |
p.G769S |
Missense |
20/23 |
- |
4 |
13-38143925-C-T |
c.2303G>A |
p.G768E |
Missense |
20/23 |
- |
5 |
13-38143931-GA-AG |
c.2296_2297delinsCT |
p.S766L |
Missense |
20/23 |
- |
1 |
13-38143931-G-C |
c.2297C>G |
p.S766C |
Missense |
20/23 |
- |
1 |
13-38143931-GA-G |
c.2296del |
p.S766Lfs*11 |
Frameshift |
20/23 |
- |
1 |
13-38143936-C-A |
c.2292G>T |
p.R764S |
Missense |
20/23 |
- |
1 |
13-38143936-C-G |
c.2292G>C |
p.R764S |
Missense |
20/23 |
- |
1 |
13-38143937-CT-TG |
c.2290_2291delinsCA |
p.R764Q |
Missense |
20/23 |
- |
1 |
13-38143940-GT-CC |
c.2287_2288delinsGG |
p.T763G |
Missense |
20/23 |
- |
1 |
13-38143941-T-G |
c.2287A>C |
p.T763P |
Missense |
20/23 |
- |
1 |
13-38143945-T-A |
c.2283A>T |
p.K761N |
Missense |
20/23 |
- |
1 |
13-38143945-T-G |
c.2283A>C |
p.K761N |
Missense |
20/23 |
- |
2 |
13-38143948-T-C |
c.2280A>G |
p.I760M |
Missense |
20/23 |
- |
1 |
13-38143953-C-T |
c.2275G>A |
p.E759K |
Missense |
20/23 |
- |
1 |
13-38143955-G-A |
c.2273C>T |
p.P758L |
Missense |
20/23 |
- |
2 |
13-38143956-G-A |
c.2272C>T |
p.P758S |
Missense |
20/23 |
- |
3 |
13-38143965-G-A |
c.2270-7C>T |
- |
IntronicSNV |
- |
19/22 |
1 |
13-38144114-T-C |
c.2270-156A>G |
- |
IntronicSNV |
- |
19/22 |
1 |
13-38144682-C-A |
c.2269+35G>T |
- |
IntronicSNV |
- |
19/22 |
1 |
13-38144717-C-A |
c.2269G>T |
p.G757C |
Missense |
19/23 |
- |
1 |
13-38144717-C-T |
c.2269G>A |
p.G757S |
Missense |
19/23 |
- |
1 |
13-38144719-G-C |
c.2267C>G |
p.T756R |
Missense |
19/23 |
- |
3 |
13-38144724-G-A |
c.2262C>T |
p.I754= |
Synonymous |
19/23 |
- |
1 |
13-38144724-G-T |
c.2262C>A |
p.I754= |
Synonymous |
19/23 |
- |
1 |
13-38144727-T-C |
c.2259A>G |
p.R753= |
Synonymous |
19/23 |
- |
1 |
13-38144728-C-T |
c.2258G>A |
p.R753Q |
Missense |
19/23 |
- |
6 |
13-38144729-G-A |
c.2257C>T |
p.R753* |
Nonsense |
19/23 |
- |
3 |
13-38144734-T-C |
c.2252A>G |
p.E751G |
Missense |
19/23 |
- |
2 |
13-38144735-C-T |
c.2251G>A |
p.E751K |
Missense |
19/23 |
- |
1 |
13-38144737-C-T |
c.2249G>A |
p.R750Q |
Missense |
19/23 |
- |
4 |
13-38144738-G-A |
c.2248C>T |
p.R750* |
Nonsense |
19/23 |
- |
1 |
13-38144739-TG-CA |
c.2246_2247inv |
p.T749M |
Missense |
19/23 |
- |
1 |
13-38144739-TGT-ACA |
c.2245_2247inv |
p.T749C |
Missense |
19/23 |
- |
1 |
13-38144740-G-A |
c.2246C>T |
p.T749I |
Missense |
19/23 |
- |
1 |
13-38144744-C-A |
c.2242G>T |
p.E748* |
Nonsense |
19/23 |
- |
1 |
13-38144744-C-G |
c.2242G>C |
p.E748Q |
Missense |
19/23 |
- |
1 |
13-38144750-C-T |
c.2236G>A |
p.E746K |
Missense |
19/23 |
- |
3 |
13-38144755-A-C |
c.2231T>G |
p.I744R |
Missense |
19/23 |
- |
1 |
13-38144755-A-T |
c.2231T>A |
p.I744K |
Missense |
19/23 |
- |
2 |
13-38144756-T-C |
c.2230A>G |
p.I744V |
Missense |
19/23 |
- |
1 |
13-38144762-C-A |
c.2224G>T |
p.V742L |
Missense |
19/23 |
- |
1 |
13-38144765-G-A |
c.2221C>T |
p.P741S |
Missense |
19/23 |
- |
2 |
13-38144778-G-A |
c.2208C>T |
p.I736= |
Synonymous |
19/23 |
- |
1 |
13-38144781-T-A |
c.2205A>T |
p.K735N |
Missense |
19/23 |
- |
1 |
13-38144781-T-G |
c.2205A>C |
p.K735N |
Missense |
19/23 |
- |
2 |
13-38144779-A-AT |
c.2206dup |
p.I736Nfs*3 |
Frameshift |
19/23 |
- |
1 |
13-38144789-AT-A |
c.2196del |
p.K732Nfs*13 |
Frameshift |
19/23 |
- |
2 |
13-38144796-A-G |
c.2190T>C |
p.I730= |
Synonymous |
19/23 |
- |
1 |
13-38144796-A-T |
c.2190T>A |
p.I730= |
Synonymous |
19/23 |
- |
1 |
13-38144803-G-A |
c.2183C>T |
p.P728L |
Missense |
19/23 |
- |
5 |
13-38144901-C-T |
c.2180-95G>A |
- |
IntronicSNV |
- |
18/22 |
1 |
13-38145044-T-C |
c.2180-238A>G |
- |
IntronicSNV |
- |
18/22 |
2 |
13-38145498-G-A |
c.2179+8C>T |
- |
IntronicSNV |
- |
18/22 |
1 |
13-38145502-G-A |
c.2179+4C>T |
- |
IntronicSNV |
- |
18/22 |
3 |
13-38145510-A-C |
c.2175T>G |
p.H725Q |
Missense |
18/23 |
- |
1 |
13-38145512-G-T |
c.2173C>A |
p.H725N |
Missense |
18/23 |
- |
4 |
13-38145513-G-C |
c.2172C>G |
p.I724M |
Missense |
18/23 |
- |
1 |
13-38145515-T-C |
c.2170A>G |
p.I724V |
Missense |
18/23 |
- |
1 |
13-38145518-C-T |
c.2167G>A |
p.V723M |
Missense |
18/23 |
- |
1 |
13-38145519-T-A |
c.2166A>T |
p.E722D |
Missense |
18/23 |
- |
2 |
13-38145519-T-G |
c.2166A>C |
p.E722D |
Missense |
18/23 |
- |
1 |
13-38145524-T-G |
c.2161A>C |
p.T721P |
Missense |
18/23 |
- |
1 |
13-38145526-A-G |
c.2159T>C |
p.I720T |
Missense |
18/23 |
- |
1 |
13-38145528-T-A |
c.2157A>T |
p.T719= |
Synonymous |
18/23 |
- |
1 |
13-38145528-T-C |
c.2157A>G |
p.T719= |
Synonymous |
18/23 |
- |
2 |
13-38145528-T-G |
c.2157A>C |
p.T719= |
Synonymous |
18/23 |
- |
1 |
13-38145533-C-G |
c.2152G>C |
p.E718Q |
Missense |
18/23 |
- |
1 |
13-38145534-A-G |
c.2151T>C |
p.G717= |
Synonymous |
18/23 |
- |
1 |
13-38145536-C-T |
c.2149G>A |
p.G717S |
Missense |
18/23 |
- |
1 |
13-38145539-C-T |
c.2146G>A |
p.E716K |
Missense |
18/23 |
- |
7 |
13-38145544-A-T |
c.2141T>A |
p.I714N |
Missense |
18/23 |
- |
1 |
13-38145546-C-A |
c.2139G>T |
p.L713= |
Synonymous |
18/23 |
- |
2 |
13-38145546-C-G |
c.2139G>C |
p.L713= |
Synonymous |
18/23 |
- |
2 |
13-38145546-C-T |
c.2139G>A |
p.L713= |
Synonymous |
18/23 |
- |
2 |
13-38145548-G-A |
c.2137C>T |
p.L713= |
Synonymous |
18/23 |
- |
2 |
13-38145552-G-C |
c.2133C>G |
p.F711L |
Missense |
18/23 |
- |
2 |
13-38145552-G-T |
c.2133C>A |
p.F711L |
Missense |
18/23 |
- |
1 |
13-38145554-A-G |
c.2131T>C |
p.F711L |
Missense |
18/23 |
- |
1 |
13-38145557-C-T |
c.2128G>A |
p.E710K |
Missense |
18/23 |
- |
2 |
13-38145565-CC-GT |
c.2119_2120delinsAC |
p.G707T |
Missense |
18/23 |
- |
1 |
13-38145569-C-A |
c.2116G>T |
p.E706* |
Nonsense |
18/23 |
- |
1 |
13-38145569-C-G |
c.2116G>C |
p.E706Q |
Missense |
18/23 |
- |
2 |
13-38145572-T-C |
c.2113A>G |
p.I705V |
Missense |
18/23 |
- |
1 |
13-38145578-C-T |
c.2107G>A |
p.V703I |
Missense |
18/23 |
- |
1 |
13-38145582-TG-CA |
c.2102_2103inv |
p.T701M |
Missense |
18/23 |
- |
1 |
13-38145583-G-A |
c.2102C>T |
p.T701I |
Missense |
18/23 |
- |
3 |
13-38145587-G-A |
c.2098C>T |
p.L700= |
Synonymous |
18/23 |
- |
1 |
13-38145587-G-T |
c.2098C>A |
p.L700I |
Missense |
18/23 |
- |
3 |
13-38145589-G-C |
c.2096C>G |
p.T699R |
Missense |
18/23 |
- |
1 |
13-38145591-G-T |
c.2094C>A |
p.P698= |
Synonymous |
18/23 |
- |
1 |
13-38145592-G-A |
c.2093C>T |
p.P698L |
Missense |
18/23 |
- |
2 |
13-38145593-G-T |
c.2092C>A |
p.P698T |
Missense |
18/23 |
- |
1 |
13-38145595-C-G |
c.2090G>C |
p.G697A |
Missense |
18/23 |
- |
1 |
13-38146468-C-A |
c.2090-873G>T |
- |
IntronicSNV |
- |
17/22 |
1 |
13-38146468-C-T |
c.2090-873G>A |
- |
IntronicSNV |
- |
17/22 |
1 |
13-38146998-C-T |
c.2090-1403G>A |
- |
IntronicSNV |
- |
17/22 |
1 |
13-38147676-ATGAC-A |
c.2089+1029_2089+1032del |
- |
IntronicDeletion |
- |
17/22 |
1 |
13-38148710-T-C |
c.2088A>G |
p.E696= |
Synonymous |
17/23 |
- |
1 |
13-38148724-T-C |
c.2074A>G |
p.I692V |
Missense |
17/23 |
- |
1 |
13-38148728-C-A |
c.2070G>T |
p.Q690H |
Missense |
17/23 |
- |
1 |
13-38148733-G-C |
c.2065C>G |
p.L689V |
Missense |
17/23 |
- |
1 |
13-38148734-A-C |
c.2064T>G |
p.S688R |
Missense |
17/23 |
- |
1 |
13-38148734-A-T |
c.2064T>A |
p.S688R |
Missense |
17/23 |
- |
1 |
13-38148736-T-G |
c.2062A>C |
p.S688R |
Missense |
17/23 |
- |
1 |
13-38148739-C-A |
c.2059G>T |
p.G687C |
Missense |
17/23 |
- |
1 |
13-38148740-T-A |
c.2058A>T |
p.E686D |
Missense |
17/23 |
- |
1 |
13-38148740-T-G |
c.2058A>C |
p.E686D |
Missense |
17/23 |
- |
1 |
13-38148742-C-G |
c.2056G>C |
p.E686Q |
Missense |
17/23 |
- |
1 |
13-38148742-C-T |
c.2056G>A |
p.E686K |
Missense |
17/23 |
- |
4 |
13-38148746-C-G |
c.2052G>C |
p.V684= |
Synonymous |
17/23 |
- |
1 |
13-38148746-C-T |
c.2052G>A |
p.V684= |
Synonymous |
17/23 |
- |
1 |
13-38148748-C-T |
c.2050G>A |
p.V684M |
Missense |
17/23 |
- |
3 |
13-38148751-T-C |
c.2047A>G |
p.K683E |
Missense |
17/23 |
- |
1 |
13-38148758-TG-T |
c.2039del |
p.P680Qfs*5 |
Frameshift |
17/23 |
- |
1 |
13-38148760-G-T |
c.2038C>A |
p.P680T |
Missense |
17/23 |
- |
1 |
13-38148761-T-A |
c.2037A>T |
p.E679D |
Missense |
17/23 |
- |
2 |
13-38148762-T-A |
c.2036A>T |
p.E679V |
Missense |
17/23 |
- |
1 |
13-38148763-C-G |
c.2035G>C |
p.E679Q |
Missense |
17/23 |
- |
2 |
13-38148767-A-G |
c.2031T>C |
p.V677= |
Synonymous |
17/23 |
- |
1 |
13-38148768-A-G |
c.2030T>C |
p.V677A |
Missense |
17/23 |
- |
1 |
13-38148769-C-T |
c.2029G>A |
p.V677I |
Missense |
17/23 |
- |
1 |
13-38148774-G-A |
c.2024C>T |
p.T675I |
Missense |
17/23 |
- |
3 |
13-38148777-A-C |
c.2021T>G |
p.I674R |
Missense |
17/23 |
- |
1 |
13-38148778-T-C |
c.2020A>G |
p.I674V |
Missense |
17/23 |
- |
1 |
13-38148779-A-G |
c.2019T>C |
p.I673= |
Synonymous |
17/23 |
- |
1 |
13-38148779-A-T |
c.2019T>A |
p.I673= |
Synonymous |
17/23 |
- |
1 |
13-38148784-T-C |
c.2014A>G |
p.K672E |
Missense |
17/23 |
- |
1 |
13-38148893-C-A |
c.2009-104G>T |
- |
IntronicSNV |
- |
16/22 |
7 |
13-38148893-C-G |
c.2009-104G>C |
- |
IntronicSNV |
- |
16/22 |
7 |
13-38148893-C-T |
c.2009-104G>A |
- |
IntronicSNV |
- |
16/22 |
7 |
13-38149074-G-A |
c.2009-285C>T |
- |
IntronicSNV |
- |
16/22 |
1 |
13-38150669-A-G |
c.2008+1221T>C |
- |
IntronicSNV |
- |
16/22 |
1 |
13-38151202-T-A |
c.2008+688A>T |
- |
IntronicSNV |
- |
16/22 |
1 |
13-38151202-T-G |
c.2008+688A>C |
- |
IntronicSNV |
- |
16/22 |
1 |
13-38151621-T-A |
c.2008+269A>T |
- |
IntronicSNV |
- |
16/22 |
1 |
13-38151878-T-C |
c.2008+12A>G |
- |
IntronicSNV |
- |
16/22 |
1 |
13-38151898-G-C |
c.2000C>G |
p.T667S |
Missense |
16/23 |
- |
1 |
13-38151899-T-A |
c.1999A>T |
p.T667S |
Missense |
16/23 |
- |
2 |
13-38151902-C-T |
c.1996G>A |
p.V666M |
Missense |
16/23 |
- |
1 |
13-38151903-G-A |
c.1995C>T |
p.P665= |
Synonymous |
16/23 |
- |
1 |
13-38151904-G-A |
c.1994C>T |
p.P665L |
Missense |
16/23 |
- |
1 |
13-38151905-G-A |
c.1993C>T |
p.P665S |
Missense |
16/23 |
- |
1 |
13-38151910-T-C |
c.1988A>G |
p.E663G |
Missense |
16/23 |
- |
1 |
13-38151912-T-C |
c.1986A>G |
p.K662= |
Synonymous |
16/23 |
- |
1 |
13-38151913-T-G |
c.1985A>C |
p.K662T |
Missense |
16/23 |
- |
2 |
13-38151915-G-C |
c.1983C>G |
p.F661L |
Missense |
16/23 |
- |
1 |
13-38151918-GG-CA |
c.1979_1980delinsTG |
p.T660M |
Missense |
16/23 |
- |
1 |
13-38151921-G-A |
c.1977C>T |
p.S659= |
Synonymous |
16/23 |
- |
2 |
13-38151923-T-C |
c.1975A>G |
p.S659G |
Missense |
16/23 |
- |
1 |
13-38151925-C-A |
c.1973G>T |
p.G658V |
Missense |
16/23 |
- |
2 |
13-38151925-C-T |
c.1973G>A |
p.G658D |
Missense |
16/23 |
- |
1 |
13-38151928-C-T |
c.1970G>A |
p.R657H |
Missense |
16/23 |
- |
4 |
13-38151929-G-A |
c.1969C>T |
p.R657C |
Missense |
16/23 |
- |
7 |
13-38151931-A-G |
c.1967T>C |
p.V656A |
Missense |
16/23 |
- |
1 |
13-38151932-C-T |
c.1966G>A |
p.V656I |
Missense |
16/23 |
- |
1 |
13-38152041-T-C |
c.1963-106A>G |
- |
IntronicSNV |
- |
15/22 |
2 |
13-38152935-CA-C |
c.1962+45del |
- |
IntronicDeletion |
- |
15/22 |
2 |
13-38152955-AG-A |
c.1962+26del |
- |
IntronicDeletion |
- |
15/22 |
1 |
13-38152959-T-A |
c.1962+22A>T |
- |
IntronicSNV |
- |
15/22 |
1 |
13-38152959-T-G |
c.1962+22A>C |
- |
IntronicSNV |
- |
15/22 |
2 |
13-38152989-G-T |
c.1954C>A |
p.Q652K |
Missense |
15/23 |
- |
1 |
13-38152994-T-A |
c.1949A>T |
p.Y650F |
Missense |
15/23 |
- |
1 |
13-38152996-T-G |
c.1947A>C |
p.K649N |
Missense |
15/23 |
- |
1 |
13-38152999-G-T |
c.1944C>A |
p.I648= |
Synonymous |
15/23 |
- |
1 |
13-38153001-T-C |
c.1942A>G |
p.I648V |
Missense |
15/23 |
- |
1 |
13-38153002-T-A |
c.1941A>T |
p.L647F |
Missense |
15/23 |
- |
1 |
13-38153020-C-A |
c.1923G>T |
p.L641= |
Synonymous |
15/23 |
- |
1 |
13-38153023-C-A |
c.1920G>T |
p.L640= |
Synonymous |
15/23 |
- |
1 |
13-38153024-A-T |
c.1919T>A |
p.L640Q |
Missense |
15/23 |
- |
2 |
13-38153026-T-A |
c.1917A>T |
p.Q639H |
Missense |
15/23 |
- |
1 |
13-38153026-T-G |
c.1917A>C |
p.Q639H |
Missense |
15/23 |
- |
1 |
13-38153028-G-A |
c.1915C>T |
p.Q639* |
Nonsense |
15/23 |
- |
2 |
13-38153029-A-C |
c.1914T>G |
p.D638E |
Missense |
15/23 |
- |
1 |
13-38153029-A-T |
c.1914T>A |
p.D638E |
Missense |
15/23 |
- |
1 |
13-38153030-T-C |
c.1913A>G |
p.D638G |
Missense |
15/23 |
- |
1 |
13-38153036-C-T |
c.1907G>A |
p.G636E |
Missense |
15/23 |
- |
1 |
13-38153037-C-T |
c.1906G>A |
p.G636R |
Missense |
15/23 |
- |
2 |
13-38153042-G-A |
c.1901C>T |
p.P634L |
Missense |
15/23 |
- |
1 |
13-38153130-T-C |
c.1894+26A>G |
- |
IntronicSNV |
- |
14/22 |
9 |
13-38153155-C-A |
c.1894+1G>T |
- |
IntronicSNV |
- |
14/22 |
2 |
13-38153156-C-G |
c.1894G>C |
p.D632H |
Missense |
14/23 |
- |
1 |
13-38153156-C-T |
c.1894G>A |
p.D632N |
Missense |
14/23 |
- |
1 |
13-38153158-G-A |
c.1892C>T |
p.A631V |
Missense |
14/23 |
- |
2 |
13-38153159-C-G |
c.1891G>C |
p.A631P |
Missense |
14/23 |
- |
1 |
13-38153160-T-A |
c.1890A>T |
p.P630= |
Synonymous |
14/23 |
- |
1 |
13-38153163-A-ATT |
c.1886_1887insAA |
p.Y629* |
Nonsense |
14/23 |
- |
1 |
13-38153165-AGAG-A |
c.1882_1884del |
p.L628del |
InFrameDeletion |
14/23 |
- |
4 |
13-38153170-A-T |
c.1880T>A |
p.L627H |
Missense |
14/23 |
- |
1 |
13-38153177-C-CA |
c.1872_1873insT |
p.D625* |
Nonsense |
14/23 |
- |
1 |
13-38153182-A-G |
c.1868T>C |
p.V623A |
Missense |
14/23 |
- |
1 |
13-38153189-T-C |
c.1861A>G |
p.I621V |
Missense |
14/23 |
- |
1 |
13-38153191-A-G |
c.1859T>C |
p.V620A |
Missense |
14/23 |
- |
1 |
13-38153192-C-T |
c.1858G>A |
p.V620I |
Missense |
14/23 |
- |
1 |
13-38153197-T-G |
c.1853A>C |
p.N618T |
Missense |
14/23 |
- |
1 |
13-38153199-T-A |
c.1851A>T |
p.T617= |
Synonymous |
14/23 |
- |
1 |
13-38153199-T-C |
c.1851A>G |
p.T617= |
Synonymous |
14/23 |
- |
1 |
13-38153199-T-G |
c.1851A>C |
p.T617= |
Synonymous |
14/23 |
- |
1 |
13-38153200-G-T |
c.1850C>A |
p.T617K |
Missense |
14/23 |
- |
2 |
13-38153204-T-C |
c.1846A>G |
p.T616A |
Missense |
14/23 |
- |
1 |
13-38153219-C-A |
c.1831G>T |
p.E611* |
Nonsense |
14/23 |
- |
3 |
13-38153223-T-A |
c.1827A>T |
p.S609= |
Synonymous |
14/23 |
- |
1 |
13-38153223-T-C |
c.1827A>G |
p.S609= |
Synonymous |
14/23 |
- |
1 |
13-38153223-T-G |
c.1827A>C |
p.S609= |
Synonymous |
14/23 |
- |
1 |
13-38153226-T-C |
c.1824A>G |
p.K608= |
Synonymous |
14/23 |
- |
1 |
13-38153229-C-A |
c.1821G>T |
p.L607F |
Missense |
14/23 |
- |
1 |
13-38153230-A-G |
c.1820T>C |
p.L607S |
Missense |
14/23 |
- |
1 |
13-38153231-A-T |
c.1819T>A |
p.L607M |
Missense |
14/23 |
- |
1 |
13-38153232-T-A |
c.1818A>T |
p.E606D |
Missense |
14/23 |
- |
1 |
13-38153232-T-G |
c.1818A>C |
p.E606D |
Missense |
14/23 |
- |
1 |
13-38153239-A-G |
c.1811T>C |
p.V604A |
Missense |
14/23 |
- |
1 |
13-38153242-A-G |
c.1808T>C |
p.L603P |
Missense |
14/23 |
- |
2 |
13-38153245-A-G |
c.1805T>C |
p.L602P |
Missense |
14/23 |
- |
2 |
13-38153247-TG-GT |
c.1802_1803delinsAC |
p.T601N |
Missense |
14/23 |
- |
1 |
13-38153248-G-T |
c.1802C>A |
p.T601K |
Missense |
14/23 |
- |
1 |
13-38153249-T-C |
c.1801A>G |
p.T601A |
Missense |
14/23 |
- |
1 |
13-38153250-A-G |
c.1800T>C |
p.D600= |
Synonymous |
14/23 |
- |
1 |
13-38153257-A-G |
c.1793T>C |
p.V598A |
Missense |
14/23 |
- |
1 |
13-38153351-T-C |
c.1791+15A>G |
- |
IntronicSNV |
- |
13/22 |
7 |
13-38153362-T-G |
c.1791+4A>C |
- |
IntronicSNV |
- |
13/22 |
1 |
13-38153364-A-C |
c.1791+2T>G |
- |
IntronicSNV |
- |
13/22 |
1 |
13-38153365-C-A |
c.1791+1G>T |
- |
IntronicSNV |
- |
13/22 |
1 |
13-38153365-C-G |
c.1791+1G>C |
- |
IntronicSNV |
- |
13/22 |
1 |
13-38153366-T-G |
c.1791A>C |
p.E597D |
Missense |
13/23 |
- |
1 |
13-38153364-ACTT-A |
c.1790_1791+1del |
- |
SpliceDonorDeletion |
13/23 |
- |
1 |
13-38153367-T-TC |
c.1789dup |
p.E597Gfs*4 |
SpliceDonorInsertion |
13/23 |
- |
1 |
13-38153368-C-CA |
c.1788_1789insT |
p.E597* |
Nonsense |
13/23 |
- |
1 |
13-38153373-A-T |
c.1784T>A |
p.L595Q |
Missense |
13/23 |
- |
1 |
13-38153374-G-A |
c.1783C>T |
p.L595= |
Synonymous |
13/23 |
- |
1 |
13-38153374-G-T |
c.1783C>A |
p.L595M |
Missense |
13/23 |
- |
1 |
13-38153383-T-C |
c.1774A>G |
p.K592E |
Missense |
13/23 |
- |
1 |
13-38153392-G-T |
c.1765C>A |
p.Q589K |
Missense |
13/23 |
- |
1 |
13-38153402-T-A |
c.1755A>T |
p.L585F |
Missense |
13/23 |
- |
1 |
13-38153409-T-C |
c.1748A>G |
p.N583S |
Missense |
13/23 |
- |
7 |
13-38153413-T-C |
c.1744A>G |
p.T582A |
Missense |
13/23 |
- |
1 |
13-38153415-A-G |
c.1742T>C |
p.V581A |
Missense |
13/23 |
- |
4 |
13-38153417-A-C |
c.1740T>G |
p.G580= |
Synonymous |
13/23 |
- |
2 |
13-38153417-A-G |
c.1740T>C |
p.G580= |
Synonymous |
13/23 |
- |
3 |
13-38153417-A-T |
c.1740T>A |
p.G580= |
Synonymous |
13/23 |
- |
2 |
13-38153419-C-A |
c.1738G>T |
p.G580C |
Missense |
13/23 |
- |
1 |
13-38153421-G-C |
c.1736C>G |
p.P579R |
Missense |
13/23 |
- |
1 |
13-38153421-G-T |
c.1736C>A |
p.P579H |
Missense |
13/23 |
- |
1 |
13-38153424-T-A |
c.1733A>T |
p.E578V |
Missense |
13/23 |
- |
4 |
13-38153425-C-T |
c.1732G>A |
p.E578K |
Missense |
13/23 |
- |
1 |
13-38153431-C-T |
c.1726G>A |
p.G576R |
Missense |
13/23 |
- |
1 |
13-38153433-T-C |
c.1724A>G |
p.K575R |
Missense |
13/23 |
- |
1 |
13-38153434-T-C |
c.1723A>G |
p.K575E |
Missense |
13/23 |
- |
1 |
13-38153434-T-G |
c.1723A>C |
p.K575Q |
Missense |
13/23 |
- |
2 |
13-38153441-G-A |
c.1716C>T |
p.F572= |
Synonymous |
13/23 |
- |
1 |
13-38153448-C-G |
c.1709G>C |
p.G570A |
Missense |
13/23 |
- |
1 |
13-38153449-C-G |
c.1708G>C |
p.G570R |
Missense |
13/23 |
- |
1 |
13-38153449-C-T |
c.1708G>A |
p.G570R |
Missense |
13/23 |
- |
1 |
13-38153453-T-A |
c.1704A>T |
p.T568= |
Synonymous |
13/23 |
- |
1 |
13-38153453-T-C |
c.1704A>G |
p.T568= |
Synonymous |
13/23 |
- |
1 |
13-38153453-T-G |
c.1704A>C |
p.T568= |
Synonymous |
13/23 |
- |
1 |
13-38153456-C-A |
c.1701G>T |
p.L567= |
Synonymous |
13/23 |
- |
1 |
13-38153456-C-G |
c.1701G>C |
p.L567= |
Synonymous |
13/23 |
- |
1 |
13-38153456-C-T |
c.1701G>A |
p.L567= |
Synonymous |
13/23 |
- |
1 |
13-38153458-G-A |
c.1699C>T |
p.L567= |
Synonymous |
13/23 |
- |
1 |
13-38153457-A-G |
c.1700T>C |
p.L567P |
Missense |
13/23 |
- |
1 |
13-38153461-G-A |
c.1696C>T |
p.H566Y |
Missense |
13/23 |
- |
7 |
13-38153462-A-G |
c.1695T>C |
p.Y565= |
Synonymous |
13/23 |
- |
1 |
13-38153463-T-C |
c.1694A>G |
p.Y565C |
Missense |
13/23 |
- |
1 |
13-38153466-A-C |
c.1691T>G |
p.L564R |
Missense |
13/23 |
- |
5 |
13-38153471-G-A |
c.1686C>T |
p.I562= |
Synonymous |
13/23 |
- |
1 |
13-38153472-A-T |
c.1685T>A |
p.I562N |
Missense |
13/23 |
- |
1 |
13-38153479-G-A |
c.1678C>T |
p.Q560* |
Nonsense |
13/23 |
- |
1 |
13-38153482-G-T |
c.1675C>A |
p.L559I |
Missense |
13/23 |
- |
1 |
13-38153484-G-A |
c.1673C>T |
p.A558V |
Missense |
13/23 |
- |
1 |
13-38153485-C-CT |
c.1671_1672insA |
p.A558Sfs*21 |
Frameshift |
13/23 |
- |
1 |
13-38153488-T-G |
c.1669A>C |
p.N557H |
Missense |
13/23 |
- |
1 |
13-38153492-G-A |
c.1665C>T |
p.D555= |
Synonymous |
13/23 |
- |
2 |
13-38153494-C-T |
c.1663G>A |
p.D555N |
Missense |
13/23 |
- |
2 |
13-38153888-G-A |
c.1660+110C>T |
- |
IntronicSNV |
- |
12/22 |
2 |
13-38153997-C-A |
c.1660+1G>T |
- |
IntronicSNV |
- |
12/22 |
1 |
13-38153999-T-C |
c.1659A>G |
p.I553M |
Missense |
12/23 |
- |
1 |
13-38154002-TC-T |
c.1656del |
p.I553Yfs*15 |
Frameshift |
12/23 |
- |
1 |
13-38154004-G-C |
c.1654C>G |
p.L552V |
Missense |
12/23 |
- |
3 |
13-38154004-G-T |
c.1654C>A |
p.L552M |
Missense |
12/23 |
- |
1 |
13-38154009-T-A |
c.1649A>T |
p.E550V |
Missense |
12/23 |
- |
1 |
13-38154010-C-A |
c.1648G>T |
p.E550* |
Nonsense |
12/23 |
- |
2 |
13-38154028-ATTCCCTT-A |
c.1624_1630del |
p.K542* |
Frameshift |
12/23 |
- |
1 |
13-38154030-C-T |
c.1628G>A |
p.G543E |
Missense |
12/23 |
- |
2 |
13-38154034-T-A |
c.1624A>T |
p.K542* |
Nonsense |
12/23 |
- |
2 |
13-38154034-TA-T |
c.1623del |
p.F541Lfs*4 |
Frameshift |
12/23 |
- |
3 |
13-38154034-T-TA |
c.1623dup |
p.K542* |
Nonsense |
12/23 |
- |
1 |
13-38154044-A-T |
c.1614T>A |
p.N538K |
Missense |
12/23 |
- |
1 |
13-38154048-G-T |
c.1610C>A |
p.T537N |
Missense |
12/23 |
- |
4 |
13-38154049-T-A |
c.1609A>T |
p.T537S |
Missense |
12/23 |
- |
1 |
13-38154051-G-T |
c.1607C>A |
p.P536Q |
Missense |
12/23 |
- |
1 |
13-38154054-A-G |
c.1604T>C |
p.V535A |
Missense |
12/23 |
- |
1 |
13-38154062-T-A |
c.1596A>T |
p.T532= |
Synonymous |
12/23 |
- |
2 |
13-38154062-T-C |
c.1596A>G |
p.T532= |
Synonymous |
12/23 |
- |
2 |
13-38154062-T-G |
c.1596A>C |
p.T532= |
Synonymous |
12/23 |
- |
2 |
13-38154065-C-A |
c.1593G>T |
p.W531C |
Missense |
12/23 |
- |
3 |
13-38154065-C-G |
c.1593G>C |
p.W531C |
Missense |
12/23 |
- |
1 |
13-38154066-C-G |
c.1592G>C |
p.W531S |
Missense |
12/23 |
- |
2 |
13-38154068-G-A |
c.1590C>T |
p.D530= |
Synonymous |
12/23 |
- |
1 |
13-38154069-T-C |
c.1589A>G |
p.D530G |
Missense |
12/23 |
- |
1 |
13-38154070-C-G |
c.1588G>C |
p.D530H |
Missense |
12/23 |
- |
1 |
13-38154073-C-G |
c.1585G>C |
p.G529R |
Missense |
12/23 |
- |
2 |
13-38154075-G-A |
c.1583C>T |
p.P528L |
Missense |
12/23 |
- |
1 |
13-38154079-G-A |
c.1579C>T |
p.Q527* |
Nonsense |
12/23 |
- |
1 |
13-38154086-G-T |
c.1572C>A |
p.L524= |
Synonymous |
12/23 |
- |
1 |
13-38154089-C-A |
c.1569G>T |
p.E523D |
Missense |
12/23 |
- |
1 |
13-38154089-C-G |
c.1569G>C |
p.E523D |
Missense |
12/23 |
- |
2 |
13-38154090-T-C |
c.1568A>G |
p.E523G |
Missense |
12/23 |
- |
1 |
13-38154095-C-A |
c.1563G>T |
p.L521F |
Missense |
12/23 |
- |
5 |
13-38154095-C-G |
c.1563G>C |
p.L521F |
Missense |
12/23 |
- |
4 |
13-38154095-C-T |
c.1563G>A |
p.L521= |
Synonymous |
12/23 |
- |
1 |
13-38154095-C-CA |
c.1562dup |
p.L521Ffs*19 |
Frameshift |
12/23 |
- |
1 |
13-38154105-G-A |
c.1553C>T |
p.A518V |
Missense |
12/23 |
- |
1 |
13-38154108-T-A |
c.1550A>T |
p.E517V |
Missense |
12/23 |
- |
1 |
13-38154111-A-C |
c.1547T>G |
p.L516R |
Missense |
12/23 |
- |
2 |
13-38154116-G-A |
c.1542C>T |
p.S514= |
Synonymous |
12/23 |
- |
1 |
13-38154116-G-C |
c.1542C>G |
p.S514R |
Missense |
12/23 |
- |
4 |
13-38154116-G-T |
c.1542C>A |
p.S514R |
Missense |
12/23 |
- |
2 |
13-38154118-T-G |
c.1540A>C |
p.S514R |
Missense |
12/23 |
- |
2 |
13-38154117-C-A |
c.1541G>T |
p.S514I |
Missense |
12/23 |
- |
2 |
13-38154121-G-C |
c.1537C>G |
p.L513V |
Missense |
12/23 |
- |
1 |
13-38154121-G-T |
c.1537C>A |
p.L513I |
Missense |
12/23 |
- |
1 |
13-38154122-G-T |
c.1536C>A |
p.F512L |
Missense |
12/23 |
- |
2 |
13-38154122-G-C |
c.1536C>G |
p.F512L |
Missense |
12/23 |
- |
1 |
13-38154124-A-G |
c.1534T>C |
p.F512L |
Missense |
12/23 |
- |
1 |
13-38154127-T-C |
c.1531A>G |
p.T511A |
Missense |
12/23 |
- |
1 |
13-38154161-G-A |
c.1530-33C>T |
- |
IntronicSNV |
- |
11/22 |
2 |
13-38154189-G-A |
c.1530-61C>T |
- |
IntronicSNV |
- |
11/22 |
4 |
13-38154644-C-T |
c.1529+54G>A |
- |
IntronicSNV |
- |
11/22 |
1 |
13-38154692-G-A |
c.1529+6C>T |
- |
IntronicSNV |
- |
11/22 |
1 |
13-38154704-C-T |
c.1523G>A |
p.R508H |
Missense |
11/23 |
- |
4 |
13-38154705-G-A |
c.1522C>T |
p.R508C |
Missense |
11/23 |
- |
13 |
13-38154705-G-T |
c.1522C>A |
p.R508S |
Missense |
11/23 |
- |
1 |
13-38154709-A-G |
c.1518T>C |
p.D506= |
Synonymous |
11/23 |
- |
1 |
13-38154710-T-C |
c.1517A>G |
p.D506G |
Missense |
11/23 |
- |
3 |
13-38154711-C-A |
c.1516G>T |
p.D506Y |
Missense |
11/23 |
- |
1 |
13-38154713-T-A |
c.1514A>T |
p.Q505L |
Missense |
11/23 |
- |
1 |
13-38154714-TG-T |
c.1513del |
p.Q505Kfs*17 |
Frameshift |
11/23 |
- |
1 |
13-38154715-T-C |
c.1512A>G |
p.K504= |
Synonymous |
11/23 |
- |
2 |
13-38154716-T-G |
c.1511A>C |
p.K504T |
Missense |
11/23 |
- |
1 |
13-38154719-A-C |
c.1508T>G |
p.L503* |
Nonsense |
11/23 |
- |
2 |
13-38154719-A-T |
c.1508T>A |
p.L503* |
Nonsense |
11/23 |
- |
1 |
13-38154720-A-T |
c.1507T>A |
p.L503I |
Missense |
11/23 |
- |
2 |
13-38154721-C-T |
c.1506G>A |
p.K502= |
Synonymous |
11/23 |
- |
1 |
13-38154722-T-C |
c.1505A>G |
p.K502R |
Missense |
11/23 |
- |
1 |
13-38154722-T-G |
c.1505A>C |
p.K502T |
Missense |
11/23 |
- |
1 |
13-38154726-C-A |
c.1501G>T |
p.E501* |
Nonsense |
11/23 |
- |
1 |
13-38154727-A-G |
c.1500T>C |
p.H500= |
Synonymous |
11/23 |
- |
1 |
13-38154730-G-A |
c.1497C>T |
p.L499= |
Synonymous |
11/23 |
- |
1 |
13-38154732-G-A |
c.1495C>T |
p.L499F |
Missense |
11/23 |
- |
1 |
13-38154733-G-T |
c.1494C>A |
p.S498= |
Synonymous |
11/23 |
- |
1 |
13-38154734-G-A |
c.1493C>T |
p.S498F |
Missense |
11/23 |
- |
1 |
13-38154749-T-C |
c.1478A>G |
p.K493R |
Missense |
11/23 |
- |
1 |
13-38154754-G-A |
c.1473C>T |
p.I491= |
Synonymous |
11/23 |
- |
2 |
13-38154757-C-A |
c.1470G>T |
p.E490D |
Missense |
11/23 |
- |
1 |
13-38154758-T-C |
c.1469A>G |
p.E490G |
Missense |
11/23 |
- |
1 |
13-38154759-C-T |
c.1468G>A |
p.E490K |
Missense |
11/23 |
- |
2 |
13-38154760-G-A |
c.1467C>T |
p.R489= |
Synonymous |
11/23 |
- |
3 |
13-38154760-G-C |
c.1467C>G |
p.R489= |
Synonymous |
11/23 |
- |
2 |
13-38154760-GC-TT |
c.1466_1467delinsAA |
p.R489Q |
Missense |
11/23 |
- |
1 |
13-38154760-G-T |
c.1467C>A |
p.R489= |
Synonymous |
11/23 |
- |
2 |
13-38154761-C-T |
c.1466G>A |
p.R489H |
Missense |
11/23 |
- |
5 |
13-38154762-G-A |
c.1465C>T |
p.R489C |
Missense |
11/23 |
- |
5 |
13-38154763-G-A |
c.1464C>T |
p.F488= |
Synonymous |
11/23 |
- |
1 |
13-38154766-T-G |
c.1461A>C |
p.I487= |
Synonymous |
11/23 |
- |
1 |
13-38154770-T-C |
c.1457A>G |
p.H486R |
Missense |
11/23 |
- |
1 |
13-38154772-A-G |
c.1455T>C |
p.I485= |
Synonymous |
11/23 |
- |
1 |
13-38154772-A-T |
c.1455T>A |
p.I485= |
Synonymous |
11/23 |
- |
1 |
13-38154775-C-A |
c.1452G>T |
p.A484= |
Synonymous |
11/23 |
- |
1 |
13-38154775-C-G |
c.1452G>C |
p.A484= |
Synonymous |
11/23 |
- |
1 |
13-38154775-C-T |
c.1452G>A |
p.A484= |
Synonymous |
11/23 |
- |
6 |
13-38154776-G-A |
c.1451C>T |
p.A484V |
Missense |
11/23 |
- |
11 |
13-38154776-G-T |
c.1451C>A |
p.A484E |
Missense |
11/23 |
- |
2 |
13-38154780-C-A |
c.1447G>T |
p.G483C |
Missense |
11/23 |
- |
1 |
13-38154780-C-G |
c.1447G>C |
p.G483R |
Missense |
11/23 |
- |
2 |
13-38154780-C-T |
c.1447G>A |
p.G483S |
Missense |
11/23 |
- |
5 |
13-38154781-G-A |
c.1446C>T |
p.N482= |
Synonymous |
11/23 |
- |
5 |
13-38154781-G-T |
c.1446C>A |
p.N482K |
Missense |
11/23 |
- |
1 |
13-38154783-T-G |
c.1444A>C |
p.N482H |
Missense |
11/23 |
- |
2 |
13-38154784-T-A |
c.1443A>T |
p.R481S |
Missense |
11/23 |
- |
1 |
13-38154784-TCT-CCA |
c.1441_1443delinsTGG |
p.R481W |
Missense |
11/23 |
- |
1 |
13-38154784-T-G |
c.1443A>C |
p.R481S |
Missense |
11/23 |
- |
1 |
13-38154786-T-A |
c.1441A>T |
p.R481* |
Nonsense |
11/23 |
- |
1 |
13-38154786-T-C |
c.1441A>G |
p.R481G |
Missense |
11/23 |
- |
1 |
13-38154788-C-T |
c.1439G>A |
p.G480E |
Missense |
11/23 |
- |
2 |
13-38154791-T-C |
c.1436A>G |
p.Q479R |
Missense |
11/23 |
- |
1 |
13-38154793-C-T |
c.1434G>A |
p.K478= |
Synonymous |
11/23 |
- |
1 |
13-38154796-A-C |
c.1431T>G |
p.S477R |
Missense |
11/23 |
- |
1 |
13-38154796-A-T |
c.1431T>A |
p.S477R |
Missense |
11/23 |
- |
1 |
13-38154798-T-G |
c.1429A>C |
p.S477R |
Missense |
11/23 |
- |
1 |
13-38154797-C-T |
c.1430G>A |
p.S477N |
Missense |
11/23 |
- |
2 |
13-38154805-C-A |
c.1422G>T |
p.E474D |
Missense |
11/23 |
- |
3 |
13-38154805-C-G |
c.1422G>C |
p.E474D |
Missense |
11/23 |
- |
2 |
13-38154807-C-G |
c.1420G>C |
p.E474Q |
Missense |
11/23 |
- |
1 |
13-38154810-T-C |
c.1417A>G |
p.M473V |
Missense |
11/23 |
- |
3 |
13-38154811-G-A |
c.1416C>T |
p.C472= |
Synonymous |
11/23 |
- |
1 |
13-38154815-G-C |
c.1412C>G |
p.S471* |
Nonsense |
11/23 |
- |
1 |
13-38154815-G-T |
c.1412C>A |
p.S471* |
Nonsense |
11/23 |
- |
1 |
13-38154820-T-C |
c.1407A>G |
p.E469= |
Synonymous |
11/23 |
- |
1 |
13-38154820-T-G |
c.1407A>C |
p.E469D |
Missense |
11/23 |
- |
1 |
13-38154822-C-T |
c.1405G>A |
p.E469K |
Missense |
11/23 |
- |
3 |
13-38154827-C-A |
c.1400G>T |
p.C467F |
Missense |
11/23 |
- |
1 |
13-38154827-C-T |
c.1400G>A |
p.C467Y |
Missense |
11/23 |
- |
1 |
13-38154831-C-G |
c.1396G>C |
p.V466L |
Missense |
11/23 |
- |
1 |
13-38154833-G-C |
c.1394C>G |
p.A465G |
Missense |
11/23 |
- |
1 |
13-38154834-C-A |
c.1393G>T |
p.A465S |
Missense |
11/23 |
- |
4 |
13-38154905-T-A |
c.1393-71A>T |
- |
IntronicSNV |
- |
10/22 |
3 |
13-38154905-T-C |
c.1393-71A>G |
- |
IntronicSNV |
- |
10/22 |
3 |
13-38154959-G-A |
c.1393-125C>T |
- |
IntronicSNV |
- |
10/22 |
3 |
13-38154959-G-C |
c.1393-125C>G |
- |
IntronicSNV |
- |
10/22 |
3 |
13-38156287-T-A |
c.1392+216A>T |
- |
IntronicSNV |
- |
10/22 |
1 |
13-38156391-A-G |
c.1392+112T>C |
- |
IntronicSNV |
- |
10/22 |
1 |
13-38156502-C-T |
c.1392+1G>A |
- |
IntronicSNV |
- |
10/22 |
1 |
13-38156504-G-A |
c.1391C>T |
p.T464I |
Missense |
10/23 |
- |
1 |
13-38156506-ACG-CCA |
c.1387_1389delinsTGG |
p.R463W |
Missense |
10/23 |
- |
1 |
13-38156507-C-T |
c.1388G>A |
p.R463H |
Missense |
10/23 |
- |
7 |
13-38156508-G-A |
c.1387C>T |
p.R463C |
Missense |
10/23 |
- |
5 |
13-38156514-C-A |
c.1381G>T |
p.V461L |
Missense |
10/23 |
- |
1 |
13-38156514-C-G |
c.1381G>C |
p.V461L |
Missense |
10/23 |
- |
1 |
13-38156514-C-T |
c.1381G>A |
p.V461I |
Missense |
10/23 |
- |
1 |
13-38156515-G-A |
c.1380C>T |
p.F460= |
Synonymous |
10/23 |
- |
1 |
13-38156525-A-G |
c.1370T>C |
p.L457P |
Missense |
10/23 |
- |
1 |
13-38156527-C-A |
c.1368G>T |
p.Q456H |
Missense |
10/23 |
- |
1 |
13-38156527-C-G |
c.1368G>C |
p.Q456H |
Missense |
10/23 |
- |
1 |
13-38156534-C-T |
c.1361G>A |
p.G454D |
Missense |
10/23 |
- |
1 |
13-38156538-C-G |
c.1357G>C |
p.G453R |
Missense |
10/23 |
- |
6 |
13-38156538-C-T |
c.1357G>A |
p.G453R |
Missense |
10/23 |
- |
15 |
13-38156539-G-A |
c.1356C>T |
p.I452= |
Synonymous |
10/23 |
- |
1 |
13-38156542-G-C |
c.1353C>G |
p.T451= |
Synonymous |
10/23 |
- |
1 |
13-38156543-G-T |
c.1352C>A |
p.T451N |
Missense |
10/23 |
- |
1 |
13-38156543-GT-CA |
c.1351_1352delinsTG |
p.T451C |
Missense |
10/23 |
- |
1 |
13-38156544-T-C |
c.1351A>G |
p.T451A |
Missense |
10/23 |
- |
1 |
13-38156550-G-A |
c.1345C>T |
p.L449= |
Synonymous |
10/23 |
- |
1 |
13-38156553-T-C |
c.1342A>G |
p.I448V |
Missense |
10/23 |
- |
3 |
13-38156559-C-A |
c.1336G>T |
p.G446W |
Missense |
10/23 |
- |
1 |
13-38156560-G-A |
c.1335C>T |
p.N445= |
Synonymous |
10/23 |
- |
5 |
13-38156560-G-C |
c.1335C>G |
p.N445K |
Missense |
10/23 |
- |
1 |
13-38156560-G-T |
c.1335C>A |
p.N445K |
Missense |
10/23 |
- |
1 |
13-38156561-T-A |
c.1334A>T |
p.N445I |
Missense |
10/23 |
- |
1 |
13-38156561-T-C |
c.1334A>G |
p.N445S |
Missense |
10/23 |
- |
2 |
13-38156567-AG-CT |
c.1327_1328inv |
p.L443S |
Missense |
10/23 |
- |
1 |
13-38156571-C-G |
c.1324G>C |
p.E442Q |
Missense |
10/23 |
- |
1 |
13-38156583-C-T |
c.1312G>A |
p.V438I |
Missense |
10/23 |
- |
1 |
13-38156592-T-C |
c.1303A>G |
p.K435E |
Missense |
10/23 |
- |
1 |
13-38156598-T-C |
c.1297A>G |
p.I433V |
Missense |
10/23 |
- |
1 |
13-38156600-T-G |
c.1295A>C |
p.H432P |
Missense |
10/23 |
- |
1 |
13-38156601-G-A |
c.1294C>T |
p.H432Y |
Missense |
10/23 |
- |
1 |
13-38156604-T-A |
c.1291A>T |
p.N431Y |
Missense |
10/23 |
- |
4 |
13-38156605-C-A |
c.1290G>T |
p.Q430H |
Missense |
10/23 |
- |
2 |
13-38156608-C-T |
c.1287G>A |
p.L429= |
Synonymous |
10/23 |
- |
1 |
13-38156618-T-G |
c.1277A>C |
p.K426T |
Missense |
10/23 |
- |
1 |
13-38156623-G-A |
c.1272C>T |
p.L424= |
Synonymous |
10/23 |
- |
3 |
13-38156627-C-T |
c.1268G>A |
p.R423H |
Missense |
10/23 |
- |
3 |
13-38156628-G-A |
c.1267C>T |
p.R423C |
Missense |
10/23 |
- |
4 |
13-38156633-T-A |
c.1262A>T |
p.D421V |
Missense |
10/23 |
- |
1 |
13-38156635-C-T |
c.1260G>A |
p.M420I |
Missense |
10/23 |
- |
2 |
13-38156637-T-C |
c.1258A>G |
p.M420V |
Missense |
10/23 |
- |
1 |
13-38156645-G-A |
c.1250C>T |
p.T417I |
Missense |
10/23 |
- |
1 |
13-38156648-T-C |
c.1247A>G |
p.D416G |
Missense |
10/23 |
- |
2 |
13-38156648-T-G |
c.1247A>C |
p.D416A |
Missense |
10/23 |
- |
1 |
13-38156649-C-T |
c.1246G>A |
p.D416N |
Missense |
10/23 |
- |
2 |
13-38156706-T-G |
c.1244-55A>C |
- |
IntronicSNV |
- |
9/22 |
3 |
13-38156874-C-T |
c.1244-223G>A |
- |
IntronicSNV |
- |
9/22 |
1 |
13-38157420-A-T |
c.1243+686T>A |
- |
IntronicSNV |
- |
9/22 |
1 |
13-38157789-T-A |
c.1243+317A>T |
- |
IntronicSNV |
- |
9/22 |
2 |
13-38157917-A-G |
c.1243+189T>C |
- |
IntronicSNV |
- |
9/22 |
1 |
13-38158042-C-T |
c.1243+64G>A |
- |
IntronicSNV |
- |
9/22 |
1 |
13-38158108-G-A |
c.1241C>T |
p.S414F |
Missense |
9/23 |
- |
3 |
13-38158113-TGC-ACA |
c.1234_1236delinsTGT |
p.A412C |
Missense |
9/23 |
- |
1 |
13-38158114-G-A |
c.1235C>T |
p.A412V |
Missense |
9/23 |
- |
1 |
13-38158115-C-G |
c.1234G>C |
p.A412P |
Missense |
9/23 |
- |
2 |
13-38158116-A-G |
c.1233T>C |
p.N411= |
Synonymous |
9/23 |
- |
2 |
13-38158117-T-C |
c.1232A>G |
p.N411S |
Missense |
9/23 |
- |
1 |
13-38158127-G-T |
c.1222C>A |
p.P408T |
Missense |
9/23 |
- |
1 |
13-38158129-G-C |
c.1220C>G |
p.A407G |
Missense |
9/23 |
- |
1 |
13-38158130-C-A |
c.1219G>T |
p.A407S |
Missense |
9/23 |
- |
1 |
13-38158130-C-T |
c.1219G>A |
p.A407T |
Missense |
9/23 |
- |
1 |
13-38158137-A-C |
c.1212T>G |
p.T404= |
Synonymous |
9/23 |
- |
1 |
13-38158137-A-G |
c.1212T>C |
p.T404= |
Synonymous |
9/23 |
- |
1 |
13-38158137-A-T |
c.1212T>A |
p.T404= |
Synonymous |
9/23 |
- |
1 |
13-38158138-G-A |
c.1211C>T |
p.T404I |
Missense |
9/23 |
- |
1 |
13-38158145-C-A |
c.1204G>T |
p.E402* |
Nonsense |
9/23 |
- |
2 |
13-38158145-C-T |
c.1204G>A |
p.E402K |
Missense |
9/23 |
- |
2 |
13-38158147-C-T |
c.1202G>A |
p.G401E |
Missense |
9/23 |
- |
2 |
13-38158149-A-AG |
c.1199_1200insC |
p.G401Wfs*11 |
Frameshift |
9/23 |
- |
1 |
13-38158151-C-CA |
c.1197_1198insT |
p.D400* |
Nonsense |
9/23 |
- |
1 |
13-38158155-CCT-ATG |
c.1192_1194delinsCAT |
p.R398H |
Missense |
9/23 |
- |
1 |
13-38158162-G-C |
c.1187C>G |
p.A396G |
Missense |
9/23 |
- |
1 |
13-38158163-C-T |
c.1186G>A |
p.A396T |
Missense |
9/23 |
- |
1 |
13-38158168-G-C |
c.1181C>G |
p.A394G |
Missense |
9/23 |
- |
1 |
13-38158170-C-T |
c.1179G>A |
p.L393= |
Synonymous |
9/23 |
- |
1 |
13-38158172-A-G |
c.1177T>C |
p.L393= |
Synonymous |
9/23 |
- |
1 |
13-38158173-G-A |
c.1176C>T |
p.G392= |
Synonymous |
9/23 |
- |
1 |
13-38158177-A-G |
c.1172T>C |
p.L391S |
Missense |
9/23 |
- |
1 |
13-38158179-T-A |
c.1170A>T |
p.Q390H |
Missense |
9/23 |
- |
3 |
13-38158179-T-G |
c.1170A>C |
p.Q390H |
Missense |
9/23 |
- |
2 |
13-38158182-G-A |
c.1167C>T |
p.A389= |
Synonymous |
9/23 |
- |
2 |
13-38158186-A-T |
c.1163T>A |
p.V388E |
Missense |
9/23 |
- |
2 |
13-38158190-G-T |
c.1159C>A |
p.L387I |
Missense |
9/23 |
- |
3 |
13-38158192-T-C |
c.1157A>G |
p.D386G |
Missense |
9/23 |
- |
3 |
13-38158192-T-G |
c.1157A>C |
p.D386A |
Missense |
9/23 |
- |
1 |
13-38158194-C-T |
c.1155G>A |
p.T385= |
Synonymous |
9/23 |
- |
1 |
13-38158195-G-A |
c.1154C>T |
p.T385M |
Missense |
9/23 |
- |
3 |
13-38158195-G-C |
c.1154C>G |
p.T385R |
Missense |
9/23 |
- |
1 |
13-38158197-G-A |
c.1152C>T |
p.F384= |
Synonymous |
9/23 |
- |
1 |
13-38158216-C-A |
c.1133G>T |
p.G378V |
Missense |
9/23 |
- |
1 |
13-38158216-C-T |
c.1133G>A |
p.G378E |
Missense |
9/23 |
- |
5 |
13-38158217-C-A |
c.1132G>T |
p.G378* |
Nonsense |
9/23 |
- |
1 |
13-38158220-C-T |
c.1129G>A |
p.A377T |
Missense |
9/23 |
- |
2 |
13-38158226-C-A |
c.1123G>T |
p.E375* |
Nonsense |
9/23 |
- |
1 |
13-38158231-A-C |
c.1118T>G |
p.V373G |
Missense |
9/23 |
- |
2 |
13-38158231-AC-TT |
c.1117_1118delinsAA |
p.V373N |
Missense |
9/23 |
- |
1 |
13-38158233-T-G |
c.1116A>C |
p.Q372H |
Missense |
9/23 |
- |
2 |
13-38158235-G-A |
c.1114C>T |
p.Q372* |
Nonsense |
9/23 |
- |
1 |
13-38158235-G-T |
c.1114C>A |
p.Q372K |
Missense |
9/23 |
- |
1 |
13-38158239-G-T |
c.1110C>A |
p.A370= |
Synonymous |
9/23 |
- |
1 |
13-38158240-G-C |
c.1109C>G |
p.A370G |
Missense |
9/23 |
- |
1 |
13-38158431-C-T |
c.1109-191G>A |
- |
IntronicSNV |
- |
8/22 |
2 |
13-38158567-T-C |
c.1108+286A>G |
- |
IntronicSNV |
- |
8/22 |
1 |
13-38158621-A-G |
c.1108+232T>C |
- |
IntronicSNV |
- |
8/22 |
1 |
13-38158718-T-C |
c.1108+135A>G |
- |
IntronicSNV |
- |
8/22 |
1 |
13-38158854-A-G |
c.1107T>C |
p.S369= |
Synonymous |
8/23 |
- |
1 |
13-38158860-AG-TT |
c.1100_1101delinsAA |
p.P367Q |
Missense |
8/23 |
- |
1 |
13-38158866-T-G |
c.1095A>C |
p.L365= |
Synonymous |
8/23 |
- |
1 |
13-38158867-A-G |
c.1094T>C |
p.L365P |
Missense |
8/23 |
- |
1 |
13-38158869-GAC-CAT |
c.1090_1092delinsATG |
p.V364M |
Missense |
8/23 |
- |
2 |
13-38158873-T-G |
c.1088A>C |
p.Q363P |
Missense |
8/23 |
- |
1 |
13-38158877-C-G |
c.1084G>C |
p.D362H |
Missense |
8/23 |
- |
1 |
13-38158881-C-A |
c.1080G>T |
p.L360F |
Missense |
8/23 |
- |
1 |
13-38158881-C-G |
c.1080G>C |
p.L360F |
Missense |
8/23 |
- |
1 |
13-38158886-G-C |
c.1075C>G |
p.H359D |
Missense |
8/23 |
- |
1 |
13-38158887-G-T |
c.1074C>A |
p.I358= |
Synonymous |
8/23 |
- |
1 |
13-38158888-A-C |
c.1073T>G |
p.I358S |
Missense |
8/23 |
- |
2 |
13-38158888-A-G |
c.1073T>C |
p.I358T |
Missense |
8/23 |
- |
3 |
13-38158892-C-T |
c.1069G>A |
p.V357M |
Missense |
8/23 |
- |
1 |
13-38158896-A-G |
c.1065T>C |
p.N355= |
Synonymous |
8/23 |
- |
1 |
13-38158899-A-G |
c.1062T>C |
p.N354= |
Synonymous |
8/23 |
- |
1 |
13-38158909-A-G |
c.1052T>C |
p.I351T |
Missense |
8/23 |
- |
1 |
13-38158913-C-T |
c.1048G>A |
p.D350N |
Missense |
8/23 |
- |
1 |
13-38158914-C-A |
c.1047G>T |
p.K349N |
Missense |
8/23 |
- |
3 |
13-38158914-C-G |
c.1047G>C |
p.K349N |
Missense |
8/23 |
- |
2 |
13-38158915-T-A |
c.1046A>T |
p.K349M |
Missense |
8/23 |
- |
1 |
13-38158918-T-G |
c.1043A>C |
p.K348T |
Missense |
8/23 |
- |
3 |
13-38158920-G-A |
c.1041C>T |
p.N347= |
Synonymous |
8/23 |
- |
1 |
13-38158924-A-C |
c.1037T>G |
p.V346G |
Missense |
8/23 |
- |
1 |
13-38158925-C-T |
c.1036G>A |
p.V346M |
Missense |
8/23 |
- |
2 |
13-38158926-C-A |
c.1035G>T |
p.M345I |
Missense |
8/23 |
- |
2 |
13-38158926-C-G |
c.1035G>C |
p.M345I |
Missense |
8/23 |
- |
2 |
13-38158926-C-T |
c.1035G>A |
p.M345I |
Missense |
8/23 |
- |
4 |
13-38158928-T-A |
c.1033A>T |
p.M345L |
Missense |
8/23 |
- |
1 |
13-38158928-T-C |
c.1033A>G |
p.M345V |
Missense |
8/23 |
- |
1 |
13-38158929-T-C |
c.1032A>G |
p.K344= |
Synonymous |
8/23 |
- |
1 |
13-38158930-T-A |
c.1031A>T |
p.K344I |
Missense |
8/23 |
- |
1 |
13-38158932-G-T |
c.1029C>A |
p.I343= |
Synonymous |
8/23 |
- |
1 |
13-38158937-C-T |
c.1024G>A |
p.G342R |
Missense |
8/23 |
- |
2 |
13-38158939-T-C |
c.1022A>G |
p.N341S |
Missense |
8/23 |
- |
4 |
13-38158939-T-G |
c.1022A>C |
p.N341T |
Missense |
8/23 |
- |
3 |
13-38158940-T-C |
c.1021A>G |
p.N341D |
Missense |
8/23 |
- |
1 |
13-38158941-T-A |
c.1020A>T |
p.V340= |
Synonymous |
8/23 |
- |
1 |
13-38158941-TAC-CAT |
c.1018_1020delinsATG |
p.V340M |
Missense |
8/23 |
- |
1 |
13-38158943-C-A |
c.1018G>T |
p.V340L |
Missense |
8/23 |
- |
2 |
13-38158943-C-G |
c.1018G>C |
p.V340L |
Missense |
8/23 |
- |
1 |
13-38158945-G-A |
c.1016C>T |
p.T339I |
Missense |
8/23 |
- |
3 |
13-38158945-G-C |
c.1016C>G |
p.T339R |
Missense |
8/23 |
- |
1 |
13-38158946-T-G |
c.1015A>C |
p.T339P |
Missense |
8/23 |
- |
1 |
13-38158958-C-A |
c.1003G>T |
p.G335C |
Missense |
8/23 |
- |
2 |
13-38158958-C-T |
c.1003G>A |
p.G335S |
Missense |
8/23 |
- |
1 |
13-38158959-G-A |
c.1002C>T |
p.D334= |
Synonymous |
8/23 |
- |
4 |
13-38158961-C-G |
c.1000G>C |
p.D334H |
Missense |
8/23 |
- |
3 |
13-38158963-C-G |
c.998G>C |
p.C333S |
Missense |
8/23 |
- |
1 |
13-38158964-A-T |
c.997T>A |
p.C333S |
Missense |
8/23 |
- |
1 |
13-38158973-C-T |
c.988G>A |
p.E330K |
Missense |
8/23 |
- |
1 |
13-38158974-A-C |
c.987T>G |
p.I329M |
Missense |
8/23 |
- |
1 |
13-38158978-G-T |
c.983C>A |
p.T328K |
Missense |
8/23 |
- |
3 |
13-38158979-T-C |
c.982A>G |
p.T328A |
Missense |
8/23 |
- |
2 |
13-38158981-T-A |
c.980A>T |
p.N327I |
Missense |
8/23 |
- |
3 |
13-38158981-T-C |
c.980A>G |
p.N327S |
Missense |
8/23 |
- |
1 |
13-38158982-T-TA |
c.978_979insT |
p.N327* |
Nonsense |
8/23 |
- |
1 |
13-38158984-C-T |
c.977G>A |
p.G326E |
Missense |
8/23 |
- |
3 |
13-38158986-T-C |
c.975A>G |
p.E325= |
Synonymous |
8/23 |
- |
1 |
13-38158987-T-C |
c.974A>G |
p.E325G |
Missense |
8/23 |
- |
1 |
13-38158988-C-G |
c.973G>C |
p.E325Q |
Missense |
8/23 |
- |
2 |
13-38158988-C-T |
c.973G>A |
p.E325K |
Missense |
8/23 |
- |
2 |
13-38158990-A-T |
c.971T>A |
p.L324Q |
Missense |
8/23 |
- |
1 |
13-38158991-AG-A |
c.970del |
p.L324Wfs*8 |
Frameshift |
8/23 |
- |
3 |
13-38158991-G-A |
c.970C>T |
p.L324= |
Synonymous |
8/23 |
- |
1 |
13-38158991-G-C |
c.970C>G |
p.L324V |
Missense |
8/23 |
- |
1 |
13-38158991-G-T |
c.970C>A |
p.L324M |
Missense |
8/23 |
- |
1 |
13-38158992-C-T |
c.969G>A |
p.T323= |
Synonymous |
8/23 |
- |
1 |
13-38158993-G-A |
c.968C>T |
p.T323M |
Missense |
8/23 |
- |
9 |
13-38158997-C-T |
c.964G>A |
p.E322K |
Missense |
8/23 |
- |
2 |
13-38158999-A-G |
c.962T>C |
p.F321S |
Missense |
8/23 |
- |
1 |
13-38159007-CT-C |
c.954del |
p.A319Qfs*13 |
Frameshift |
8/23 |
- |
1 |
13-38159011-C-A |
c.950G>T |
p.G317V |
Missense |
8/23 |
- |
1 |
13-38159011-C-T |
c.950G>A |
p.G317E |
Missense |
8/23 |
- |
1 |
13-38159013-C-T |
c.948G>A |
p.M316I |
Missense |
8/23 |
- |
1 |
13-38159019-A-C |
c.942T>G |
p.S314= |
Synonymous |
8/23 |
- |
1 |
13-38159019-A-G |
c.942T>C |
p.S314= |
Synonymous |
8/23 |
- |
1 |
13-38159019-A-T |
c.942T>A |
p.S314= |
Synonymous |
8/23 |
- |
1 |
13-38159022-C-A |
c.939G>T |
p.E313D |
Missense |
8/23 |
- |
1 |
13-38159022-C-G |
c.939G>C |
p.E313D |
Missense |
8/23 |
- |
1 |
13-38159024-C-A |
c.937G>T |
p.E313* |
Nonsense |
8/23 |
- |
1 |
13-38159024-C-T |
c.937G>A |
p.E313K |
Missense |
8/23 |
- |
4 |
13-38159026-GA-AG |
c.934_935delinsCT |
p.S312L |
Missense |
8/23 |
- |
1 |
13-38159030-A-G |
c.931T>C |
p.C311R |
Missense |
8/23 |
- |
1 |
13-38159031-C-T |
c.930G>A |
p.Q310= |
Synonymous |
8/23 |
- |
1 |
13-38159032-T-C |
c.929A>G |
p.Q310R |
Missense |
8/23 |
- |
2 |
13-38159032-TG-T |
c.928del |
p.Q310Sfs*22 |
Frameshift |
8/23 |
- |
2 |
13-38159034-G-A |
c.927C>T |
p.L309= |
Synonymous |
8/23 |
- |
1 |
13-38159034-G-C |
c.927C>G |
p.L309= |
Synonymous |
8/23 |
- |
1 |
13-38159034-G-T |
c.927C>A |
p.L309= |
Synonymous |
8/23 |
- |
2 |
13-38159038-G-T |
c.923C>A |
p.T308N |
Missense |
8/23 |
- |
1 |
13-38159046-G-T |
c.915C>A |
p.I305= |
Synonymous |
8/23 |
- |
1 |
13-38159049-G-A |
c.912C>T |
p.H304= |
Synonymous |
8/23 |
- |
1 |
13-38159051-G-T |
c.910C>A |
p.H304N |
Missense |
8/23 |
- |
1 |
13-38159057-T-A |
c.904A>T |
p.K302* |
Nonsense |
8/23 |
- |
1 |
13-38159058-C-T |
c.903G>A |
p.M301I |
Missense |
8/23 |
- |
2 |
13-38159256-A-G |
c.896-191T>C |
- |
IntronicSNV |
- |
7/22 |
2 |
13-38159280-G-C |
c.896-215C>G |
- |
IntronicSNV |
- |
7/22 |
1 |
13-38159633-A-G |
c.896-568T>C |
- |
IntronicSNV |
- |
7/22 |
1 |
13-38160276-C-G |
c.895G>C |
p.A299P |
Missense |
7/23 |
- |
2 |
13-38160276-C-T |
c.895G>A |
p.A299T |
Missense |
7/23 |
- |
4 |
13-38160277-T-A |
c.894A>T |
p.E298D |
Missense |
7/23 |
- |
2 |
13-38160277-T-C |
c.894A>G |
p.E298= |
Synonymous |
7/23 |
- |
1 |
13-38160277-T-G |
c.894A>C |
p.E298D |
Missense |
7/23 |
- |
3 |
13-38160279-C-A |
c.892G>T |
p.E298* |
Nonsense |
7/23 |
- |
1 |
13-38160279-C-T |
c.892G>A |
p.E298K |
Missense |
7/23 |
- |
8 |
13-38160279-TC-T |
c.892del |
p.E298Kfs*4 |
Frameshift |
7/23 |
- |
1 |
13-38160280-G-A |
c.891C>T |
p.S297= |
Synonymous |
7/23 |
- |
1 |
13-38160280-G-C |
c.891C>G |
p.S297= |
Synonymous |
7/23 |
- |
1 |
13-38160285-C-T |
c.886G>A |
p.A296T |
Missense |
7/23 |
- |
1 |
13-38160287-A-G |
c.884T>C |
p.V295A |
Missense |
7/23 |
- |
1 |
13-38160288-C-A |
c.883G>T |
p.V295L |
Missense |
7/23 |
- |
1 |
13-38160288-C-G |
c.883G>C |
p.V295L |
Missense |
7/23 |
- |
1 |
13-38160288-C-T |
c.883G>A |
p.V295M |
Missense |
7/23 |
- |
1 |
13-38160289-T-A |
c.882A>T |
p.K294N |
Missense |
7/23 |
- |
2 |
13-38160289-T-G |
c.882A>C |
p.K294N |
Missense |
7/23 |
- |
4 |
13-38160290-T-C |
c.881A>G |
p.K294R |
Missense |
7/23 |
- |
1 |
13-38160292-G-C |
c.879C>G |
p.D293E |
Missense |
7/23 |
- |
1 |
13-38160292-G-T |
c.879C>A |
p.D293E |
Missense |
7/23 |
- |
2 |
13-38160293-T-C |
c.878A>G |
p.D293G |
Missense |
7/23 |
- |
2 |
13-38160296-CC-GT |
c.874_875delinsAC |
p.G292T |
Missense |
7/23 |
- |
1 |
13-38160296-C-T |
c.875G>A |
p.G292E |
Missense |
7/23 |
- |
2 |
13-38160301-G-A |
c.870C>T |
p.I290= |
Synonymous |
7/23 |
- |
1 |
13-38160301-G-T |
c.870C>A |
p.I290= |
Synonymous |
7/23 |
- |
2 |
13-38160304-C-T |
c.867G>A |
p.R289= |
Synonymous |
7/23 |
- |
3 |
13-38160305-C-A |
c.866G>T |
p.R289M |
Missense |
7/23 |
- |
1 |
13-38160305-C-T |
c.866G>A |
p.R289K |
Missense |
7/23 |
- |
2 |
13-38160305-CT-AG |
c.865_866inv |
p.R289L |
Missense |
7/23 |
- |
1 |
13-38160305-CT-C |
c.865del |
p.R289Gfs*13 |
Frameshift |
7/23 |
- |
2 |
13-38160308-T-A |
c.863A>T |
p.E288V |
Missense |
7/23 |
- |
1 |
13-38160313-G-A |
c.858C>T |
p.V286= |
Synonymous |
7/23 |
- |
3 |
13-38160320-C-T |
c.851G>A |
p.R284Q |
Missense |
7/23 |
- |
4 |
13-38160325-AA-TT |
c.845_846inv |
p.L282Q |
Missense |
7/23 |
- |
1 |
13-38160332-T-A |
c.839A>T |
p.E280V |
Missense |
7/23 |
- |
2 |
13-38160333-C-G |
c.838G>C |
p.E280Q |
Missense |
7/23 |
- |
4 |
13-38160337-A-T |
c.834T>A |
p.A278= |
Synonymous |
7/23 |
- |
1 |
13-38160338-G-A |
c.833C>T |
p.A278V |
Missense |
7/23 |
- |
4 |
13-38160341-T-C |
c.830A>G |
p.E277G |
Missense |
7/23 |
- |
2 |
13-38160348-T-C |
c.823A>G |
p.T275A |
Missense |
7/23 |
- |
1 |
13-38160349-G-A |
c.822C>T |
p.P274= |
Synonymous |
7/23 |
- |
2 |
13-38160349-G-C |
c.822C>G |
p.P274= |
Synonymous |
7/23 |
- |
1 |
13-38160349-G-T |
c.822C>A |
p.P274= |
Synonymous |
7/23 |
- |
1 |
13-38160351-G-A |
c.820C>T |
p.P274S |
Missense |
7/23 |
- |
2 |
13-38160351-G-T |
c.820C>A |
p.P274T |
Missense |
7/23 |
- |
1 |
13-38160360-G-T |
c.811C>A |
p.L271I |
Missense |
7/23 |
- |
1 |
13-38160363-T-A |
c.808A>T |
p.T270S |
Missense |
7/23 |
- |
1 |
13-38160369-G-A |
c.802C>T |
p.H268Y |
Missense |
7/23 |
- |
1 |
13-38160370-A-C |
c.801T>G |
p.G267= |
Synonymous |
7/23 |
- |
1 |
13-38160370-A-G |
c.801T>C |
p.G267= |
Synonymous |
7/23 |
- |
1 |
13-38160370-A-T |
c.801T>A |
p.G267= |
Synonymous |
7/23 |
- |
1 |
13-38160372-C-A |
c.799G>T |
p.G267C |
Missense |
7/23 |
- |
1 |
13-38160372-C-T |
c.799G>A |
p.G267S |
Missense |
7/23 |
- |
4 |
13-38160373-G-A |
c.798C>T |
p.D266= |
Synonymous |
7/23 |
- |
1 |
13-38160373-G-T |
c.798C>A |
p.D266E |
Missense |
7/23 |
- |
1 |
13-38160375-C-T |
c.796G>A |
p.D266N |
Missense |
7/23 |
- |
1 |
13-38160377-C-T |
c.794G>A |
p.R265K |
Missense |
7/23 |
- |
1 |
13-38160377-CT-TG |
c.793_794delinsCA |
p.R265Q |
Missense |
7/23 |
- |
1 |
13-38160380-C-T |
c.791G>A |
p.G264E |
Missense |
7/23 |
- |
1 |
13-38160383-A-G |
c.788T>C |
p.L263P |
Missense |
7/23 |
- |
4 |
13-38160384-G-C |
c.787C>G |
p.L263V |
Missense |
7/23 |
- |
1 |
13-38160385-G-A |
c.786C>T |
p.A262= |
Synonymous |
7/23 |
- |
4 |
13-38160386-G-C |
c.785C>G |
p.A262G |
Missense |
7/23 |
- |
1 |
13-38160391-C-A |
c.780G>T |
p.L260F |
Missense |
7/23 |
- |
3 |
13-38160391-C-G |
c.780G>C |
p.L260F |
Missense |
7/23 |
- |
1 |
13-38160397-G-A |
c.774C>T |
p.D258= |
Synonymous |
7/23 |
- |
1 |
13-38160397-G-T |
c.774C>A |
p.D258E |
Missense |
7/23 |
- |
1 |
13-38160400-C-A |
c.771G>T |
p.S257= |
Synonymous |
7/23 |
- |
1 |
13-38160400-C-G |
c.771G>C |
p.S257= |
Synonymous |
7/23 |
- |
1 |
13-38160400-C-T |
c.771G>A |
p.S257= |
Synonymous |
7/23 |
- |
2 |
13-38160401-G-A |
c.770C>T |
p.S257L |
Missense |
7/23 |
- |
1 |
13-38160404-G-T |
c.767C>A |
p.T256K |
Missense |
7/23 |
- |
1 |
13-38160404-GT-TC |
c.766_767delinsGA |
p.T256E |
Missense |
7/23 |
- |
1 |
13-38160405-T-C |
c.766A>G |
p.T256A |
Missense |
7/23 |
- |
2 |
13-38160410-G-T |
c.761C>A |
p.A254D |
Missense |
7/23 |
- |
1 |
13-38160413-G-A |
c.758C>T |
p.A253V |
Missense |
7/23 |
- |
1 |
13-38160414-C-T |
c.757G>A |
p.A253T |
Missense |
7/23 |
- |
1 |
13-38160416-G-A |
c.755C>T |
p.A252V |
Missense |
7/23 |
- |
3 |
13-38160417-C-A |
c.754G>T |
p.A252S |
Missense |
7/23 |
- |
1 |
13-38160879-G-T |
c.753+40C>A |
- |
IntronicSNV |
- |
6/22 |
1 |
13-38160919-T-A |
c.753A>T |
p.R251S |
Missense |
6/23 |
- |
5 |
13-38160919-T-G |
c.753A>C |
p.R251S |
Missense |
6/23 |
- |
3 |
13-38160920-C-T |
c.752G>A |
p.R251K |
Missense |
6/23 |
- |
1 |
13-38160925-A-G |
c.747T>C |
p.S249= |
Synonymous |
6/23 |
- |
1 |
13-38160926-GA-AT |
c.745_746delinsAT |
p.S249I |
Missense |
6/23 |
- |
1 |
13-38160928-TGA-GTT |
c.742_744delinsAAC |
p.S248N |
Missense |
6/23 |
- |
1 |
13-38160931-A-G |
c.741T>C |
p.L247= |
Synonymous |
6/23 |
- |
1 |
13-38160939-C-G |
c.733G>C |
p.D245H |
Missense |
6/23 |
- |
1 |
13-38160942-C-T |
c.730G>A |
p.E244K |
Missense |
6/23 |
- |
1 |
13-38160944-G-T |
c.728C>A |
p.A243E |
Missense |
6/23 |
- |
1 |
13-38160946-T-C |
c.726A>G |
p.E242= |
Synonymous |
6/23 |
- |
1 |
13-38160951-T-C |
c.721A>G |
p.I241V |
Missense |
6/23 |
- |
4 |
13-38160951-T-G |
c.721A>C |
p.I241L |
Missense |
6/23 |
- |
1 |
13-38160952-G-A |
c.720C>T |
p.F240= |
Synonymous |
6/23 |
- |
1 |
13-38160954-A-C |
c.718T>G |
p.F240V |
Missense |
6/23 |
- |
1 |
13-38160957-C-T |
c.715G>A |
p.D239N |
Missense |
6/23 |
- |
1 |
13-38160960-G-C |
c.712C>G |
p.Q238E |
Missense |
6/23 |
- |
2 |
13-38160961-A-G |
c.711T>C |
p.I237= |
Synonymous |
6/23 |
- |
1 |
13-38160961-A-T |
c.711T>A |
p.I237= |
Synonymous |
6/23 |
- |
1 |
13-38160964-TG-AA |
c.707_708delinsTT |
p.S236F |
Missense |
6/23 |
- |
1 |
13-38160964-TG-AT |
c.707_708delinsAT |
p.S236Y |
Missense |
6/23 |
- |
1 |
13-38160968-G-T |
c.704C>A |
p.T235N |
Missense |
6/23 |
- |
1 |
13-38160969-T-C |
c.703A>G |
p.T235A |
Missense |
6/23 |
- |
1 |
13-38160975-T-A |
c.697A>T |
p.I233F |
Missense |
6/23 |
- |
1 |
13-38160978-G-C |
c.694C>G |
p.Q232E |
Missense |
6/23 |
- |
1 |
13-38160987-C-A |
c.685G>T |
p.V229L |
Missense |
6/23 |
- |
1 |
13-38160987-C-G |
c.685G>C |
p.V229L |
Missense |
6/23 |
- |
2 |
13-38160989-C-T |
c.683G>A |
p.R228H |
Missense |
6/23 |
- |
7 |
13-38160990-G-A |
c.682C>T |
p.R228C |
Missense |
6/23 |
- |
6 |
13-38160990-G-T |
c.682C>A |
p.R228S |
Missense |
6/23 |
- |
1 |
13-38160997-G-A |
c.675C>T |
p.V225= |
Synonymous |
6/23 |
- |
4 |
13-38161005-C-T |
c.667G>A |
p.V223I |
Missense |
6/23 |
- |
1 |
13-38161012-A-C |
c.660T>G |
p.N220K |
Missense |
6/23 |
- |
2 |
13-38161012-A-G |
c.660T>C |
p.N220= |
Synonymous |
6/23 |
- |
1 |
13-38161012-A-T |
c.660T>A |
p.N220K |
Missense |
6/23 |
- |
3 |
13-38161018-T-A |
c.654A>T |
p.A218= |
Synonymous |
6/23 |
- |
1 |
13-38161018-T-C |
c.654A>G |
p.A218= |
Synonymous |
6/23 |
- |
1 |
13-38161018-T-G |
c.654A>C |
p.A218= |
Synonymous |
6/23 |
- |
1 |
13-38161020-C-A |
c.652G>T |
p.A218S |
Missense |
6/23 |
- |
1 |
13-38161025-T-C |
c.647A>G |
p.Q216R |
Missense |
6/23 |
- |
1 |
13-38161027-G-A |
c.645C>T |
p.N215= |
Synonymous |
6/23 |
- |
1 |
13-38161031-C-T |
c.641G>A |
p.G214E |
Missense |
6/23 |
- |
2 |
13-38161039-G-A |
c.633C>T |
p.I211= |
Synonymous |
6/23 |
- |
1 |
13-38161041-T-C |
c.631A>G |
p.I211V |
Missense |
6/23 |
- |
2 |
13-38161043-C-T |
c.629G>A |
p.R210Q |
Missense |
6/23 |
- |
2 |
13-38161044-G-A |
c.628C>T |
p.R210* |
Nonsense |
6/23 |
- |
2 |
13-38161044-G-T |
c.628C>A |
p.R210= |
Synonymous |
6/23 |
- |
1 |
13-38161046-G-A |
c.626C>T |
p.A209V |
Missense |
6/23 |
- |
1 |
13-38161048-A-G |
c.624T>C |
p.C208= |
Synonymous |
6/23 |
- |
1 |
13-38161049-C-T |
c.623G>A |
p.C208Y |
Missense |
6/23 |
- |
1 |
13-38161053-T-A |
c.619A>T |
p.N207Y |
Missense |
6/23 |
- |
1 |
13-38161059-T-C |
c.613A>G |
p.T205A |
Missense |
6/23 |
- |
1 |
13-38161060-G-A |
c.612C>T |
p.V204= |
Synonymous |
6/23 |
- |
1 |
13-38161060-G-C |
c.612C>G |
p.V204= |
Synonymous |
6/23 |
- |
1 |
13-38161060-G-T |
c.612C>A |
p.V204= |
Synonymous |
6/23 |
- |
1 |
13-38161062-C-G |
c.610G>C |
p.V204L |
Missense |
6/23 |
- |
1 |
13-38161064-A-G |
c.608T>C |
p.V203A |
Missense |
6/23 |
- |
1 |
13-38161065-C-G |
c.607G>C |
p.V203L |
Missense |
6/23 |
- |
1 |
13-38161065-C-T |
c.607G>A |
p.V203I |
Missense |
6/23 |
- |
1 |
13-38161401-A-G |
c.607-336T>C |
- |
IntronicSNV |
- |
5/22 |
2 |
13-38161492-A-C |
c.607-427T>G |
- |
IntronicSNV |
- |
5/22 |
1 |
13-38161563-G-A |
c.606+396C>T |
- |
IntronicSNV |
- |
5/22 |
1 |
13-38161957-A-G |
c.606+2T>C |
- |
IntronicSNV |
- |
5/22 |
1 |
13-38161960-C-T |
c.605G>A |
p.G202E |
Missense |
5/23 |
- |
1 |
13-38161966-G-T |
c.599C>A |
p.P200H |
Missense |
5/23 |
- |
2 |
13-38161967-G-A |
c.598C>T |
p.P200S |
Missense |
5/23 |
- |
4 |
13-38161977-A-G |
c.588T>C |
p.I196= |
Synonymous |
5/23 |
- |
1 |
13-38161985-G-A |
c.580C>T |
p.L194F |
Missense |
5/23 |
- |
2 |
13-38161987-C-A |
c.578G>T |
p.G193V |
Missense |
5/23 |
- |
1 |
13-38161989-C-A |
c.576G>T |
p.L192F |
Missense |
5/23 |
- |
3 |
13-38161989-C-G |
c.576G>C |
p.L192F |
Missense |
5/23 |
- |
2 |
13-38161990-A-G |
c.575T>C |
p.L192S |
Missense |
5/23 |
- |
2 |
13-38161992-A-G |
c.573T>C |
p.N191= |
Synonymous |
5/23 |
- |
1 |
13-38161996-T-C |
c.569A>G |
p.N190S |
Missense |
5/23 |
- |
1 |
13-38161999-T-G |
c.566A>C |
p.Y189S |
Missense |
5/23 |
- |
1 |
13-38162003-T-C |
c.562A>G |
p.M188V |
Missense |
5/23 |
- |
1 |
13-38162006-A-T |
c.559T>A |
p.S187T |
Missense |
5/23 |
- |
1 |
13-38162012-T-C |
c.553A>G |
p.I185V |
Missense |
5/23 |
- |
1 |
13-38162015-T-C |
c.550A>G |
p.I184V |
Missense |
5/23 |
- |
1 |
13-38162018-T-A |
c.547A>T |
p.M183L |
Missense |
5/23 |
- |
1 |
13-38162019-GCC-TCA |
c.544_546delinsTGA |
p.G182* |
Nonsense |
5/23 |
- |
1 |
13-38162020-C-T |
c.545G>A |
p.G182D |
Missense |
5/23 |
- |
1 |
13-38162021-C-T |
c.544G>A |
p.G182S |
Missense |
5/23 |
- |
3 |
13-38162024-T-G |
c.541A>C |
p.N181H |
Missense |
5/23 |
- |
1 |
13-38162027-T-G |
c.538A>C |
p.K180Q |
Missense |
5/23 |
- |
5 |
13-38162022-A-AT |
c.542dup |
p.N181Kfs*10 |
Frameshift |
5/23 |
- |
1 |
13-38162022-AT-A |
c.542del |
p.N181Mfs*3 |
Frameshift |
5/23 |
- |
2 |
13-38162028-T-A |
c.537A>T |
p.L179F |
Missense |
5/23 |
- |
1 |
13-38162028-T-G |
c.537A>C |
p.L179F |
Missense |
5/23 |
- |
1 |
13-38162028-TA-T |
c.536del |
p.L179* |
Frameshift |
5/23 |
- |
1 |
13-38162030-A-AG |
c.534dup |
p.N181Kfs*10 |
Frameshift |
5/23 |
- |
1 |
13-38162031-G-A |
c.534C>T |
p.D178= |
Synonymous |
5/23 |
- |
1 |
13-38162031-G-C |
c.534C>G |
p.D178E |
Missense |
5/23 |
- |
1 |
13-38162031-G-T |
c.534C>A |
p.D178E |
Missense |
5/23 |
- |
1 |
13-38162033-C-T |
c.532G>A |
p.D178N |
Missense |
5/23 |
- |
3 |
13-38162035-T-C |
c.530A>G |
p.K177R |
Missense |
5/23 |
- |
1 |
13-38162038-G-A |
c.527C>T |
p.T176I |
Missense |
5/23 |
- |
1 |
13-38162043-C-A |
c.522G>T |
p.M174I |
Missense |
5/23 |
- |
1 |
13-38162044-A-G |
c.521T>C |
p.M174T |
Missense |
5/23 |
- |
2 |
13-38162047-C-A |
c.518G>T |
p.R173I |
Missense |
5/23 |
- |
5 |
13-38162051-T-C |
c.514A>G |
p.K172E |
Missense |
5/23 |
- |
2 |
13-38162054-T-C |
c.511A>G |
p.N171D |
Missense |
5/23 |
- |
1 |
13-38162055-A-T |
c.510T>A |
p.I170= |
Synonymous |
5/23 |
- |
1 |
13-38162058-C-A |
c.507G>T |
p.M169I |
Missense |
5/23 |
- |
1 |
13-38162058-C-G |
c.507G>C |
p.M169I |
Missense |
5/23 |
- |
1 |
13-38162058-C-T |
c.507G>A |
p.M169I |
Missense |
5/23 |
- |
1 |
13-38162064-A-G |
c.501T>C |
p.S167= |
Synonymous |
5/23 |
- |
3 |
13-38162065-C-T |
c.500G>A |
p.S167N |
Missense |
5/23 |
- |
2 |
13-38162067-A-C |
c.498T>G |
p.H166Q |
Missense |
5/23 |
- |
1 |
13-38162072-A-T |
c.493T>A |
p.L165I |
Missense |
5/23 |
- |
2 |
13-38162074-G-A |
c.491C>T |
p.A164V |
Missense |
5/23 |
- |
2 |
13-38162079-CAG-AAA |
c.484_486delinsTTT |
p.L162F |
Missense |
5/23 |
- |
2 |
13-38162080-A-C |
c.485T>G |
p.L162R |
Missense |
5/23 |
- |
1 |
13-38162080-A-T |
c.485T>A |
p.L162Q |
Missense |
5/23 |
- |
1 |
13-38162081-G-A |
c.484C>T |
p.L162= |
Synonymous |
5/23 |
- |
1 |
13-38162088-A-C |
c.477T>G |
p.V159= |
Synonymous |
5/23 |
- |
1 |
13-38162091-A-T |
c.474T>A |
p.N158K |
Missense |
5/23 |
- |
1 |
13-38162096-C-A |
c.469G>T |
p.V157L |
Missense |
5/23 |
- |
1 |
13-38162096-C-T |
c.469G>A |
p.V157M |
Missense |
5/23 |
- |
1 |
13-38162097-G-A |
c.468C>T |
p.N156= |
Synonymous |
5/23 |
- |
2 |
13-38162101-C-G |
c.464G>C |
p.S155T |
Missense |
5/23 |
- |
1 |
13-38162103-C-A |
c.462G>T |
p.E154D |
Missense |
5/23 |
- |
1 |
13-38162103-C-G |
c.462G>C |
p.E154D |
Missense |
5/23 |
- |
1 |
13-38162105-C-T |
c.460G>A |
p.E154K |
Missense |
5/23 |
- |
5 |
13-38162106-C-A |
c.459G>T |
p.L153F |
Missense |
5/23 |
- |
1 |
13-38162106-C-G |
c.459G>C |
p.L153F |
Missense |
5/23 |
- |
2 |
13-38162107-A-G |
c.458T>C |
p.L153S |
Missense |
5/23 |
- |
1 |
13-38162110-C-G |
c.455G>C |
p.G152A |
Missense |
5/23 |
- |
1 |
13-38162113-CT-GC |
c.451_452delinsGC |
p.R151A |
Missense |
5/23 |
- |
1 |
13-38162116-C-A |
c.449G>T |
p.R150L |
Missense |
5/23 |
- |
1 |
13-38162116-C-T |
c.449G>A |
p.R150H |
Missense |
5/23 |
- |
1 |
13-38162117-G-T |
c.448C>A |
p.R150S |
Missense |
5/23 |
- |
1 |
13-38162119-A-G |
c.446T>C |
p.I149T |
Missense |
5/23 |
- |
1 |
13-38162119-A-T |
c.446T>A |
p.I149N |
Missense |
5/23 |
- |
1 |
13-38163093-C-T |
c.442-970G>A |
- |
IntronicSNV |
- |
4/22 |
1 |
13-38163262-A-G |
c.442-1139T>C |
- |
IntronicSNV |
- |
4/22 |
1 |
13-38163991-G-A |
c.441+518C>T |
- |
IntronicSNV |
- |
4/22 |
1 |
13-38164445-G-A |
c.441+64C>T |
- |
IntronicSNV |
- |
4/22 |
7 |
13-38164510-GA-TT |
c.439_440delinsAA |
p.S147N |
Missense |
4/23 |
- |
1 |
13-38164512-A-T |
c.438T>A |
p.D146E |
Missense |
4/23 |
- |
1 |
13-38164518-G-A |
c.432C>T |
p.N144= |
Synonymous |
4/23 |
- |
2 |
13-38164519-T-C |
c.431A>G |
p.N144S |
Missense |
4/23 |
- |
1 |
13-38164522-T-C |
c.428A>G |
p.D143G |
Missense |
4/23 |
- |
1 |
13-38164524-C-A |
c.426G>T |
p.W142C |
Missense |
4/23 |
- |
1 |
13-38164524-C-G |
c.426G>C |
p.W142C |
Missense |
4/23 |
- |
1 |
13-38164524-C-T |
c.426G>A |
p.W142* |
Nonsense |
4/23 |
- |
1 |
13-38164525-C-T |
c.425G>A |
p.W142* |
Nonsense |
4/23 |
- |
1 |
13-38164529-C-G |
c.421G>C |
p.A141P |
Missense |
4/23 |
- |
3 |
13-38164531-T-A |
c.419A>T |
p.E140V |
Missense |
4/23 |
- |
2 |
13-38164532-C-G |
c.418G>C |
p.E140Q |
Missense |
4/23 |
- |
4 |
13-38164539-C-A |
c.411G>T |
p.P137= |
Synonymous |
4/23 |
- |
1 |
13-38164539-C-G |
c.411G>C |
p.P137= |
Synonymous |
4/23 |
- |
1 |
13-38164539-C-T |
c.411G>A |
p.P137= |
Synonymous |
4/23 |
- |
1 |
13-38164543-G-C |
c.407C>G |
p.A136G |
Missense |
4/23 |
- |
1 |
13-38164552-G-A |
c.398C>T |
p.T133I |
Missense |
4/23 |
- |
1 |
13-38164558-G-A |
c.392C>T |
p.S131F |
Missense |
4/23 |
- |
4 |
13-38164560-T-A |
c.390A>T |
p.G130= |
Synonymous |
4/23 |
- |
1 |
13-38164560-T-C |
c.390A>G |
p.G130= |
Synonymous |
4/23 |
- |
1 |
13-38164560-T-G |
c.390A>C |
p.G130= |
Synonymous |
4/23 |
- |
1 |
13-38164562-C-A |
c.388G>T |
p.G130* |
Nonsense |
4/23 |
- |
1 |
13-38164562-C-G |
c.388G>C |
p.G130R |
Missense |
4/23 |
- |
1 |
13-38164562-C-T |
c.388G>A |
p.G130R |
Missense |
4/23 |
- |
1 |
13-38164567-C-T |
c.383G>A |
p.G128E |
Missense |
4/23 |
- |
3 |
13-38164568-C-G |
c.382G>C |
p.G128R |
Missense |
4/23 |
- |
3 |
13-38164568-C-T |
c.382G>A |
p.G128R |
Missense |
4/23 |
- |
3 |
13-38164569-C-T |
c.381G>A |
p.E127= |
Synonymous |
4/23 |
- |
1 |
13-38164571-C-T |
c.379G>A |
p.E127K |
Missense |
4/23 |
- |
1 |
13-38164572-G-A |
c.378C>T |
p.I126= |
Synonymous |
4/23 |
- |
4 |
13-38164572-G-T |
c.378C>A |
p.I126= |
Synonymous |
4/23 |
- |
2 |
13-38164575-C-G |
c.375G>C |
p.E125D |
Missense |
4/23 |
- |
1 |
13-38164577-C-T |
c.373G>A |
p.E125K |
Missense |
4/23 |
- |
3 |
13-38164580-C-T |
c.370G>A |
p.E124K |
Missense |
4/23 |
- |
1 |
13-38164581-CCT-ACA |
c.367_369delinsTGT |
p.R123C |
Missense |
4/23 |
- |
1 |
13-38164587-T-G |
c.363A>C |
p.K121N |
Missense |
4/23 |
- |
1 |
13-38164588-T-C |
c.362A>G |
p.K121R |
Missense |
4/23 |
- |
2 |
13-38164591-G-A |
c.359C>T |
p.S120L |
Missense |
4/23 |
- |
1 |
13-38164591-TG-T |
c.359del |
p.S120* |
Frameshift |
4/23 |
- |
1 |
13-38164592-A-G |
c.358T>C |
p.S120P |
Missense |
4/23 |
- |
3 |
13-38164595-C-T |
c.355G>A |
p.A119T |
Missense |
4/23 |
- |
5 |
13-38164596-G-C |
c.354C>G |
p.D118E |
Missense |
4/23 |
- |
2 |
13-38164596-G-T |
c.354C>A |
p.D118E |
Missense |
4/23 |
- |
1 |
13-38164600-G-A |
c.350C>T |
p.S117F |
Missense |
4/23 |
- |
1 |
13-38164600-GA-CG |
c.349_350delinsCG |
p.S117R |
Missense |
4/23 |
- |
1 |
13-38164600-G-T |
c.350C>A |
p.S117Y |
Missense |
4/23 |
- |
1 |
13-38164602-A-G |
c.348T>C |
p.Y116= |
Synonymous |
4/23 |
- |
1 |
13-38164604-A-T |
c.346T>A |
p.Y116N |
Missense |
4/23 |
- |
1 |
13-38164606-C-T |
c.344G>A |
p.R115H |
Missense |
4/23 |
- |
2 |
13-38164608-C-A |
c.342G>T |
p.Q114H |
Missense |
4/23 |
- |
1 |
13-38164608-C-G |
c.342G>C |
p.Q114H |
Missense |
4/23 |
- |
1 |
13-38164611-C-T |
c.339G>A |
p.T113= |
Synonymous |
4/23 |
- |
1 |
13-38164612-G-A |
c.338C>T |
p.T113M |
Missense |
4/23 |
- |
6 |
13-38164612-G-T |
c.338C>A |
p.T113K |
Missense |
4/23 |
- |
1 |
13-38164618-G-A |
c.332C>T |
p.T111I |
Missense |
4/23 |
- |
1 |
13-38164618-G-C |
c.332C>G |
p.T111S |
Missense |
4/23 |
- |
1 |
13-38164619-T-A |
c.331A>T |
p.T111S |
Missense |
4/23 |
- |
1 |
13-38164621-G-A |
c.329C>T |
p.A110V |
Missense |
4/23 |
- |
1 |
13-38164622-C-T |
c.328G>A |
p.A110T |
Missense |
4/23 |
- |
1 |
13-38164624-C-G |
c.326G>C |
p.G109A |
Missense |
4/23 |
- |
2 |
13-38164624-C-T |
c.326G>A |
p.G109E |
Missense |
4/23 |
- |
3 |
13-38164623-TC-T |
c.326del |
p.G109Efs*14 |
Frameshift |
4/23 |
- |
1 |
13-38164626-C-A |
c.324G>T |
p.V108= |
Synonymous |
4/23 |
- |
1 |
13-38164626-CAC-GAT |
c.322_324delinsATC |
p.V108I |
Missense |
4/23 |
- |
1 |
13-38164626-C-G |
c.324G>C |
p.V108= |
Synonymous |
4/23 |
- |
1 |
13-38164626-C-T |
c.324G>A |
p.V108= |
Synonymous |
4/23 |
- |
1 |
13-38164628-C-T |
c.322G>A |
p.V108M |
Missense |
4/23 |
- |
2 |
13-38164633-C-T |
c.317G>A |
p.G106D |
Missense |
4/23 |
- |
1 |
13-38164634-C-A |
c.316G>T |
p.G106C |
Missense |
4/23 |
- |
1 |
13-38164636-A-T |
c.314T>A |
p.L105Q |
Missense |
4/23 |
- |
1 |
13-38164642-C-A |
c.308G>T |
p.G103V |
Missense |
4/23 |
- |
1 |
13-38164644-A-G |
c.306T>C |
p.Y102= |
Synonymous |
4/23 |
- |
1 |
13-38164647-A-C |
c.303T>G |
p.V101= |
Synonymous |
4/23 |
- |
1 |
13-38164647-A-G |
c.303T>C |
p.V101= |
Synonymous |
4/23 |
- |
1 |
13-38164649-C-T |
c.301G>A |
p.V101I |
Missense |
4/23 |
- |
1 |
13-38164655-C-T |
c.295G>A |
p.D99N |
Missense |
4/23 |
- |
2 |
13-38164660-G-T |
c.290C>A |
p.P97H |
Missense |
4/23 |
- |
1 |
13-38164666-A-C |
c.284T>G |
p.V95G |
Missense |
4/23 |
- |
1 |
13-38165616-G-A |
c.283+621C>T |
- |
IntronicSNV |
- |
3/22 |
1 |
13-38165922-C-T |
c.283+315G>A |
- |
IntronicSNV |
- |
3/22 |
1 |
13-38166068-C-G |
c.283+169G>C |
- |
IntronicSNV |
- |
3/22 |
3 |
13-38166236-C-A |
c.283+1G>T |
- |
IntronicSNV |
- |
3/22 |
1 |
13-38166237-C-T |
c.283G>A |
p.V95I |
Missense |
3/23 |
- |
1 |
13-38166238-TGC-ACA |
c.280_282delinsTGT |
p.A94C |
Missense |
3/23 |
- |
2 |
13-38166244-G-A |
c.276C>T |
p.C92= |
Synonymous |
3/23 |
- |
1 |
13-38166244-G-C |
c.276C>G |
p.C92W |
Missense |
3/23 |
- |
2 |
13-38166245-C-A |
c.275G>T |
p.C92F |
Missense |
3/23 |
- |
2 |
13-38166245-C-G |
c.275G>C |
p.C92S |
Missense |
3/23 |
- |
1 |
13-38166246-A-G |
c.274T>C |
p.C92R |
Missense |
3/23 |
- |
1 |
13-38166246-A-T |
c.274T>A |
p.C92S |
Missense |
3/23 |
- |
1 |
13-38166252-T-TG |
c.267_268insC |
p.K90Qfs*10 |
Frameshift |
3/23 |
- |
1 |
13-38166253-C-T |
c.267G>A |
p.M89I |
Missense |
3/23 |
- |
4 |
13-38166256-TC-GT |
c.263_264delinsAC |
p.G88D |
Missense |
3/23 |
- |
1 |
13-38166258-C-A |
c.262G>T |
p.G88* |
Nonsense |
3/23 |
- |
1 |
13-38166258-C-G |
c.262G>C |
p.G88R |
Missense |
3/23 |
- |
1 |
13-38166258-C-T |
c.262G>A |
p.G88R |
Missense |
3/23 |
- |
1 |
13-38166259-TTC-AAA |
c.259_261delinsTTT |
p.E87F |
Missense |
3/23 |
- |
1 |
13-38166262-C-A |
c.258G>T |
p.M86I |
Missense |
3/23 |
- |
1 |
13-38166262-C-G |
c.258G>C |
p.M86I |
Missense |
3/23 |
- |
1 |
13-38166262-C-T |
c.258G>A |
p.M86I |
Missense |
3/23 |
- |
2 |
13-38166263-A-G |
c.257T>C |
p.M86T |
Missense |
3/23 |
- |
2 |
13-38166265-TCT-ATG |
c.253_255delinsCAT |
p.R85H |
Missense |
3/23 |
- |
1 |
13-38166266-C-A |
c.254G>T |
p.R85I |
Missense |
3/23 |
- |
1 |
13-38166268-C-A |
c.252G>T |
p.M84I |
Missense |
3/23 |
- |
4 |
13-38166268-C-G |
c.252G>C |
p.M84I |
Missense |
3/23 |
- |
3 |
13-38166268-C-T |
c.252G>A |
p.M84I |
Missense |
3/23 |
- |
4 |
13-38166270-T-C |
c.250A>G |
p.M84V |
Missense |
3/23 |
- |
1 |
13-38166274-A-C |
c.246T>G |
p.G82= |
Synonymous |
3/23 |
- |
1 |
13-38166275-C-T |
c.245G>A |
p.G82D |
Missense |
3/23 |
- |
1 |
13-38166276-C-T |
c.244G>A |
p.G82S |
Missense |
3/23 |
- |
1 |
13-38166277-A-G |
c.243T>C |
p.P81= |
Synonymous |
3/23 |
- |
1 |
13-38166278-GG-AA |
c.241_242delinsTT |
p.P81F |
Missense |
3/23 |
- |
1 |
13-38166279-GGGCAACATTCATATAACACAGTCCTGTACATAGGAAGAAAATTAATATTAAAATGAGAA-G |
c.219-36_241del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
3/23 |
2/22 |
1 |
13-38166280-G-A |
c.240C>T |
p.C80= |
Synonymous |
3/23 |
- |
1 |
13-38166281-C-A |
c.239G>T |
p.C80F |
Missense |
3/23 |
- |
2 |
13-38166291-A-G |
c.229T>C |
p.Y77H |
Missense |
3/23 |
- |
1 |
13-38166292-T-A |
c.228A>T |
p.L76F |
Missense |
3/23 |
- |
1 |
13-38166296-A-G |
c.224T>C |
p.V75A |
Missense |
3/23 |
- |
2 |
13-38166297-C-A |
c.223G>T |
p.V75L |
Missense |
3/23 |
- |
3 |
13-38166297-C-G |
c.223G>C |
p.V75L |
Missense |
3/23 |
- |
2 |
13-38166299-G-A |
c.221C>T |
p.T74I |
Missense |
3/23 |
- |
1 |
13-38166357-T-G |
c.219-56A>C |
- |
IntronicSNV |
- |
2/22 |
6 |
13-38166426-T-A |
c.219-125A>T |
- |
IntronicSNV |
- |
2/22 |
1 |
13-38166426-T-C |
c.219-125A>G |
- |
IntronicSNV |
- |
2/22 |
1 |
13-38167053-G-C |
c.219-752C>G |
- |
IntronicSNV |
- |
2/22 |
3 |
13-38168014-G-T |
c.219-1713C>A |
- |
IntronicSNV |
- |
2/22 |
2 |
13-38168300-C-G |
c.219-1999G>C |
- |
IntronicSNV |
- |
2/22 |
2 |
13-38169715-C-G |
c.218+1606G>C |
- |
IntronicSNV |
- |
2/22 |
1 |
13-38169923-A-G |
c.218+1398T>C |
- |
IntronicSNV |
- |
2/22 |
1 |
13-38170511-G-C |
c.218+810C>G |
- |
IntronicSNV |
- |
2/22 |
1 |
13-38170523-C-T |
c.218+798G>A |
- |
IntronicSNV |
- |
2/22 |
1 |
13-38171317-T-G |
c.218+4A>C |
- |
IntronicSNV |
- |
2/22 |
1 |
13-38171321-G-A |
c.218C>T |
p.T73M |
Missense |
2/23 |
- |
1 |
13-38171321-G-T |
c.218C>A |
p.T73K |
Missense |
2/23 |
- |
1 |
13-38171324-T-C |
c.215A>G |
p.K72R |
Missense |
2/23 |
- |
1 |
13-38171325-T-C |
c.214A>G |
p.K72E |
Missense |
2/23 |
- |
1 |
13-38171326-C-A |
c.213G>T |
p.Q71H |
Missense |
2/23 |
- |
5 |
13-38171326-C-G |
c.213G>C |
p.Q71H |
Missense |
2/23 |
- |
4 |
13-38171328-G-T |
c.211C>A |
p.Q71K |
Missense |
2/23 |
- |
2 |
13-38171330-C-A |
c.209G>T |
p.G70V |
Missense |
2/23 |
- |
1 |
13-38171333-C-T |
c.206G>A |
p.C69Y |
Missense |
2/23 |
- |
2 |
13-38171338-G-A |
c.201C>T |
p.S67= |
Synonymous |
2/23 |
- |
1 |
13-38171338-G-C |
c.201C>G |
p.S67= |
Synonymous |
2/23 |
- |
1 |
13-38171338-G-T |
c.201C>A |
p.S67= |
Synonymous |
2/23 |
- |
2 |
13-38171339-G-A |
c.200C>T |
p.S67F |
Missense |
2/23 |
- |
1 |
13-38171341-ACTTTTTATACCAGTTCTTACAAGTGCTGAAGTATTTCTTTTTGGTGCCCAAAATCTGTT-A |
c.140_198del |
p.Q47Lfs*12 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
2/23 |
- |
1 |
13-38171341-C-T |
c.198G>A |
p.K66= |
Synonymous |
2/23 |
- |
1 |
13-38171349-A-G |
c.190T>C |
p.Y64H |
Missense |
2/23 |
- |
1 |
13-38171350-C-A |
c.189G>T |
p.W63C |
Missense |
2/23 |
- |
1 |
13-38171355-T-A |
c.184A>T |
p.N62Y |
Missense |
2/23 |
- |
1 |
13-38171356-C-A |
c.183G>T |
p.K61N |
Missense |
2/23 |
- |
1 |
13-38171356-C-G |
c.183G>C |
p.K61N |
Missense |
2/23 |
- |
1 |
13-38171360-C-A |
c.179G>T |
p.C60F |
Missense |
2/23 |
- |
2 |
13-38171360-C-T |
c.179G>A |
p.C60Y |
Missense |
2/23 |
- |
1 |
13-38171366-CT-GC |
c.172_173delinsGC |
p.S58A |
Missense |
2/23 |
- |
1 |
13-38171368-G-C |
c.171C>G |
p.F57L |
Missense |
2/23 |
- |
1 |
13-38171368-G-T |
c.171C>A |
p.F57L |
Missense |
2/23 |
- |
1 |
13-38171370-A-G |
c.169T>C |
p.F57L |
Missense |
2/23 |
- |
1 |
13-38171373-A-T |
c.166T>A |
p.Y56N |
Missense |
2/23 |
- |
1 |
13-38171377-C-A |
c.162G>T |
p.K54N |
Missense |
2/23 |
- |
5 |
13-38171377-C-G |
c.162G>C |
p.K54N |
Missense |
2/23 |
- |
2 |
13-38171377-C-T |
c.162G>A |
p.K54= |
Synonymous |
2/23 |
- |
3 |
13-38171381-T-A |
c.158A>T |
p.K53I |
Missense |
2/23 |
- |
2 |
13-38171385-T-G |
c.154A>C |
p.T52P |
Missense |
2/23 |
- |
1 |
13-38171387-C-G |
c.152G>C |
p.G51A |
Missense |
2/23 |
- |
2 |
13-38171390-A-C |
c.149T>G |
p.L50W |
Missense |
2/23 |
- |
1 |
13-38171395-C-A |
c.144G>T |
p.Q48H |
Missense |
2/23 |
- |
2 |
13-38171395-C-G |
c.144G>C |
p.Q48H |
Missense |
2/23 |
- |
1 |
13-38171401-A-C |
c.138T>G |
p.L46= |
Synonymous |
2/23 |
- |
1 |
13-38171401-A-G |
c.138T>C |
p.L46= |
Synonymous |
2/23 |
- |
1 |
13-38171401-A-T |
c.138T>A |
p.L46= |
Synonymous |
2/23 |
- |
1 |
13-38171403-G-A |
c.136C>T |
p.L46F |
Missense |
2/23 |
- |
1 |
13-38171405-G-A |
c.134C>T |
p.A45V |
Missense |
2/23 |
- |
1 |
13-38171406-C-A |
c.133G>T |
p.A45S |
Missense |
2/23 |
- |
1 |
13-38171406-C-T |
c.133G>A |
p.A45T |
Missense |
2/23 |
- |
1 |
13-38171407-A-G |
c.132T>C |
p.C44= |
Synonymous |
2/23 |
- |
2 |
13-38171408-C-A |
c.131G>T |
p.C44F |
Missense |
2/23 |
- |
1 |
13-38171408-C-T |
c.131G>A |
p.C44Y |
Missense |
2/23 |
- |
2 |
13-38171412-C-T |
c.127G>A |
p.V43I |
Missense |
2/23 |
- |
2 |
13-38171413-A-G |
c.126T>C |
p.N42= |
Synonymous |
2/23 |
- |
1 |
13-38171414-TT-AC |
c.124_125delinsGT |
p.N42V |
Missense |
2/23 |
- |
1 |
13-38171417-G-T |
c.122C>A |
p.P41Q |
Missense |
2/23 |
- |
3 |
13-38171741-G-A |
c.120-322C>T |
- |
IntronicSNV |
- |
1/22 |
1 |
13-38171741-G-T |
c.120-322C>A |
- |
IntronicSNV |
- |
1/22 |
1 |
13-38172236-A-G |
c.119+509T>C |
- |
IntronicSNV |
- |
1/22 |
1 |
13-38172672-T-C |
c.119+73A>G |
- |
IntronicSNV |
- |
1/22 |
1 |
13-38172744-C-G |
c.119+1G>C |
- |
IntronicSNV |
- |
1/22 |
2 |
13-38172745-C-A |
c.119G>T |
p.G40V |
Missense |
1/23 |
- |
1 |
13-38172745-C-G |
c.119G>C |
p.G40A |
Missense |
1/23 |
- |
1 |
13-38172748-T-A |
c.116A>T |
p.Q39L |
Missense |
1/23 |
- |
1 |
13-38172749-G-A |
c.115C>T |
p.Q39* |
Nonsense |
1/23 |
- |
2 |
13-38172751-T-C |
c.113A>G |
p.D38G |
Missense |
1/23 |
- |
1 |
13-38172752-C-A |
c.112G>T |
p.D38Y |
Missense |
1/23 |
- |
4 |
13-38172753-CC-AT |
c.110_111delinsAT |
p.R37H |
Missense |
1/23 |
- |
1 |
13-38172755-G-A |
c.109C>T |
p.R37W |
Missense |
1/23 |
- |
2 |
13-38172756-A-C |
c.108T>G |
p.G36= |
Synonymous |
1/23 |
- |
1 |
13-38172756-A-G |
c.108T>C |
p.G36= |
Synonymous |
1/23 |
- |
1 |
13-38172756-A-T |
c.108T>A |
p.G36= |
Synonymous |
1/23 |
- |
1 |
13-38172759-C-T |
c.105G>A |
p.R35= |
Synonymous |
1/23 |
- |
1 |
13-38172761-T-G |
c.103A>C |
p.R35= |
Synonymous |
1/23 |
- |
1 |
13-38172766-C-G |
c.98G>C |
p.R33P |
Missense |
1/23 |
- |
1 |
13-38172767-G-A |
c.97C>T |
p.R33C |
Missense |
1/23 |
- |
2 |
13-38172767-GACTATGAGCCAAGATCTTGTCATAATGATT-A |
c.67_97delinsT |
p.N23_R33delinsC |
MultiAAMissense |
1/23 |
- |
1 |
13-38172767-G-T |
c.97C>A |
p.R33S |
Missense |
1/23 |
- |
1 |
13-38172768-ACT-CCA |
c.94_96delinsTGG |
p.S32W |
Missense |
1/23 |
- |
1 |
13-38172770-CTATGAGCCA-C |
c.86_94del |
p.L29_S32delinsC |
MultiAAMissense |
1/23 |
- |
1 |
13-38172774-A-C |
c.90T>G |
p.A30= |
Synonymous |
1/23 |
- |
1 |
13-38172774-A-G |
c.90T>C |
p.A30= |
Synonymous |
1/23 |
- |
1 |
13-38172774-AG-CT |
c.89_90inv |
p.A30E |
Missense |
1/23 |
- |
1 |
13-38172774-AGC-TTA |
c.88_90delinsTAA |
p.A30* |
Nonsense |
1/23 |
- |
1 |
13-38172774-A-T |
c.90T>A |
p.A30= |
Synonymous |
1/23 |
- |
1 |
13-38172775-GC-AA |
c.88_89delinsTT |
p.A30F |
Missense |
1/23 |
- |
1 |
13-38172776-C-A |
c.88G>T |
p.A30S |
Missense |
1/23 |
- |
1 |
13-38172777-CA-C |
c.86del |
p.L29Wfs*56 |
Frameshift |
1/23 |
- |
1 |
13-38172780-G-T |
c.84C>A |
p.I28= |
Synonymous |
1/23 |
- |
1 |
13-38172784-T-A |
c.80A>T |
p.K27M |
Missense |
1/23 |
- |
3 |
13-38172784-T-C |
c.80A>G |
p.K27R |
Missense |
1/23 |
- |
1 |
13-38172787-T-G |
c.77A>C |
p.D26A |
Missense |
1/23 |
- |
1 |
13-38172793-TG-GC |
c.70_71delinsGC |
p.H24A |
Missense |
1/23 |
- |
1 |
13-38172795-A-G |
c.69T>C |
p.N23= |
Synonymous |
1/23 |
- |
1 |
13-38172796-T-C |
c.68A>G |
p.N23S |
Missense |
1/23 |
- |
1 |
13-38172798-G-A |
c.66C>T |
p.N22= |
Synonymous |
1/23 |
- |
1 |
13-38172798-G-C |
c.66C>G |
p.N22K |
Missense |
1/23 |
- |
1 |
13-38172798-G-T |
c.66C>A |
p.N22K |
Missense |
1/23 |
- |
1 |
13-38172799-T-C |
c.65A>G |
p.N22S |
Missense |
1/23 |
- |
1 |
13-38172801-G-A |
c.63C>T |
p.A21= |
Synonymous |
1/23 |
- |
1 |
13-38172801-G-C |
c.63C>G |
p.A21= |
Synonymous |
1/23 |
- |
1 |
13-38172801-G-T |
c.63C>A |
p.A21= |
Synonymous |
1/23 |
- |
1 |
13-38172802-GC-AA |
c.61_62delinsTT |
p.A21F |
Missense |
1/23 |
- |
1 |
13-38172803-C-T |
c.61G>A |
p.A21T |
Missense |
1/23 |
- |
3 |
13-38172804-G-A |
c.60C>T |
p.N20= |
Synonymous |
1/23 |
- |
2 |
13-38172807-T-A |
c.57A>T |
p.I19= |
Synonymous |
1/23 |
- |
2 |
13-38172807-T-G |
c.57A>C |
p.I19= |
Synonymous |
1/23 |
- |
2 |
13-38172812-G-A |
c.52C>T |
p.P18S |
Missense |
1/23 |
- |
2 |
13-38172814-T-C |
c.50A>G |
p.N17S |
Missense |
1/23 |
- |
1 |
13-38172818-C-T |
c.46G>A |
p.V16I |
Missense |
1/23 |
- |
8 |
13-38172820-A-G |
c.44T>C |
p.I15T |
Missense |
1/23 |
- |
2 |
13-38172821-T-G |
c.43A>C |
p.I15L |
Missense |
1/23 |
- |
1 |
13-38172823-A-G |
c.41T>C |
p.L14P |
Missense |
1/23 |
- |
2 |
13-38172826-AG-GC |
c.37_38delinsGC |
p.L13A |
Missense |
1/23 |
- |
4 |
13-38172827-G-C |
c.37C>G |
p.L13V |
Missense |
1/23 |
- |
1 |
13-38172828-C-T |
c.36G>A |
p.L12= |
Synonymous |
1/23 |
- |
1 |
13-38172830-A-G |
c.34T>C |
p.L12= |
Synonymous |
1/23 |
- |
1 |
13-38172835-AG-GC |
c.28_29delinsGC |
p.L10A |
Missense |
1/23 |
- |
2 |
13-38172837-A-C |
c.27T>G |
p.S9= |
Synonymous |
1/23 |
- |
1 |
13-38172837-A-G |
c.27T>C |
p.S9= |
Synonymous |
1/23 |
- |
1 |
13-38172837-A-T |
c.27T>A |
p.S9= |
Synonymous |
1/23 |
- |
1 |
13-38172838-G-T |
c.26C>A |
p.S9Y |
Missense |
1/23 |
- |
5 |
13-38172840-A-T |
c.24T>A |
p.F8L |
Missense |
1/23 |
- |
2 |
13-38172840-A-C |
c.24T>G |
p.F8L |
Missense |
1/23 |
- |
1 |
13-38172842-A-G |
c.22T>C |
p.F8L |
Missense |
1/23 |
- |
1 |
13-38172852-A-T |
c.12T>A |
p.F4L |
Missense |
1/23 |
- |
1 |
13-38172858-A-G |
c.6T>C |
p.I2= |
Synonymous |
1/23 |
- |
4 |
13-38172858-A-T |
c.6T>A |
p.I2= |
Synonymous |
1/23 |
- |
4 |
13-38172859-A-G |
c.5T>C |
p.I2T |
Missense |
1/23 |
- |
1 |
13-38172861-C-A |
c.3G>T |
p.M1? |
Missense |
1/23 |
- |
1 |
13-38172861-C-T |
c.3G>A |
p.M1? |
Missense |
1/23 |
- |
1 |
13-38172862-A-G |
c.2T>C |
p.M1? |
Missense |
1/23 |
- |
1 |
13-38172867-G-A |
c.-4C>T |
- |
5-UTRSNV |
1/23 |
- |
3 |
13-38172896-G-A |
c.-33C>T |
- |
5-UTRSNV |
1/23 |
- |
12 |
13-38172896-G-C |
c.-33C>G |
- |
5-UTRSNV |
1/23 |
- |
12 |