11-62392876-C-A |
c.*411G>T |
- |
3-UTRSNV |
24/24 |
- |
1 |
11-62392876-C-T |
c.*411G>A |
- |
3-UTRSNV |
24/24 |
- |
1 |
11-62393207-C-T |
c.*80G>A |
- |
3-UTRSNV |
24/24 |
- |
1 |
11-62393291-C-G |
c.2831G>C |
p.R944P |
Missense |
24/24 |
- |
3 |
11-62393291-C-T |
c.2831G>A |
p.R944Q |
Missense |
24/24 |
- |
3 |
11-62393310-C-T |
c.2812G>A |
p.D938N |
Missense |
24/24 |
- |
1 |
11-62393312-G-T |
c.2810C>A |
p.S937Y |
Missense |
24/24 |
- |
1 |
11-62393314-T-C |
c.2808A>G |
p.A936= |
Synonymous |
24/24 |
- |
1 |
11-62393316-C-T |
c.2806G>A |
p.A936T |
Missense |
24/24 |
- |
4 |
11-62393318-A-G |
c.2804T>C |
p.V935A |
Missense |
24/24 |
- |
1 |
11-62393327-C-A |
c.2795G>T |
p.G932V |
Missense |
24/24 |
- |
1 |
11-62393331-G-C |
c.2791C>G |
p.P931A |
Missense |
24/24 |
- |
1 |
11-62393332-C-A |
c.2790G>T |
p.K930N |
Missense |
24/24 |
- |
1 |
11-62393332-C-G |
c.2790G>C |
p.K930N |
Missense |
24/24 |
- |
1 |
11-62393334-T-C |
c.2788A>G |
p.K930E |
Missense |
24/24 |
- |
2 |
11-62393336-C-T |
c.2786G>A |
p.R929H |
Missense |
24/24 |
- |
3 |
11-62393337-G-A |
c.2785C>T |
p.R929C |
Missense |
24/24 |
- |
2 |
11-62393346-A-T |
c.2776T>A |
p.L926M |
Missense |
24/24 |
- |
1 |
11-62393349-C-T |
c.2773G>A |
p.V925M |
Missense |
24/24 |
- |
1 |
11-62393351-G-A |
c.2771C>T |
p.S924F |
Missense |
24/24 |
- |
1 |
11-62393356-TCTC-T |
c.2764_2766del |
p.E922del |
InFrameDeletion |
24/24 |
- |
1 |
11-62393362-G-A |
c.2760C>T |
p.D920= |
Synonymous |
24/24 |
- |
2 |
11-62393374-G-A |
c.2748C>T |
p.S916= |
Synonymous |
24/24 |
- |
1 |
11-62393381-C-T |
c.2741G>A |
p.R914H |
Missense |
24/24 |
- |
1 |
11-62393382-G-A |
c.2740C>T |
p.R914C |
Missense |
24/24 |
- |
1 |
11-62393382-G-T |
c.2740C>A |
p.R914S |
Missense |
24/24 |
- |
1 |
11-62393385-T-C |
c.2737A>G |
p.S913G |
Missense |
24/24 |
- |
1 |
11-62393396-C-T |
c.2726G>A |
p.G909E |
Missense |
24/24 |
- |
1 |
11-62393506-C-T |
c.2725+31G>A |
- |
IntronicSNV |
- |
23/23 |
1 |
11-62393540-T-C |
c.2722A>G |
p.K908E |
Missense |
23/24 |
- |
1 |
11-62393541-T-A |
c.2721A>T |
p.T907= |
Synonymous |
23/24 |
- |
1 |
11-62393541-T-C |
c.2721A>G |
p.T907= |
Synonymous |
23/24 |
- |
1 |
11-62393541-T-G |
c.2721A>C |
p.T907= |
Synonymous |
23/24 |
- |
1 |
11-62393543-T-C |
c.2719A>G |
p.T907A |
Missense |
23/24 |
- |
2 |
11-62393547-G-A |
c.2715C>T |
p.L905= |
Synonymous |
23/24 |
- |
3 |
11-62393547-G-C |
c.2715C>G |
p.L905= |
Synonymous |
23/24 |
- |
1 |
11-62393547-G-T |
c.2715C>A |
p.L905= |
Synonymous |
23/24 |
- |
1 |
11-62393554-A-G |
c.2708T>C |
p.V903A |
Missense |
23/24 |
- |
1 |
11-62393555-C-A |
c.2707G>T |
p.V903L |
Missense |
23/24 |
- |
1 |
11-62393555-C-G |
c.2707G>C |
p.V903L |
Missense |
23/24 |
- |
1 |
11-62393555-C-T |
c.2707G>A |
p.V903M |
Missense |
23/24 |
- |
1 |
11-62393560-G-A |
c.2702C>T |
p.A901V |
Missense |
23/24 |
- |
1 |
11-62393570-C-T |
c.2692G>A |
p.G898R |
Missense |
23/24 |
- |
1 |
11-62393575-CC-TA |
c.2686_2687delinsTA |
p.G896* |
Nonsense |
23/24 |
- |
1 |
11-62393579-T-C |
c.2683A>G |
p.I895V |
Missense |
23/24 |
- |
1 |
11-62393581-A-C |
c.2681T>G |
p.I894R |
Missense |
23/24 |
- |
1 |
11-62393590-C-T |
c.2672G>A |
p.R891Q |
Missense |
23/24 |
- |
2 |
11-62393601-G-A |
c.2661C>T |
p.I887= |
Synonymous |
23/24 |
- |
1 |
11-62393601-G-T |
c.2661C>A |
p.I887= |
Synonymous |
23/24 |
- |
1 |
11-62393606-G-A |
c.2656C>T |
p.P886S |
Missense |
23/24 |
- |
1 |
11-62393607-T-A |
c.2655A>T |
p.T885= |
Synonymous |
23/24 |
- |
2 |
11-62393609-T-C |
c.2653A>G |
p.T885A |
Missense |
23/24 |
- |
1 |
11-62393613-A-G |
c.2649T>C |
p.F883= |
Synonymous |
23/24 |
- |
1 |
11-62393616-G-A |
c.2646C>T |
p.H882= |
Synonymous |
23/24 |
- |
1 |
11-62393624-C-G |
c.2638G>C |
p.E880Q |
Missense |
23/24 |
- |
1 |
11-62393627-G-A |
c.2635C>T |
p.P879S |
Missense |
23/24 |
- |
1 |
11-62393635-G-A |
c.2627C>T |
p.S876L |
Missense |
23/24 |
- |
1 |
11-62393635-G-C |
c.2627C>G |
p.S876* |
Nonsense |
23/24 |
- |
1 |
11-62393808-T-A |
c.2623A>T |
p.S875C |
Missense |
22/24 |
- |
1 |
11-62393830-G-C |
c.2601C>G |
p.F867L |
Missense |
22/24 |
- |
1 |
11-62393830-G-T |
c.2601C>A |
p.F867L |
Missense |
22/24 |
- |
1 |
11-62393832-A-G |
c.2599T>C |
p.F867L |
Missense |
22/24 |
- |
1 |
11-62393833-T-C |
c.2598A>G |
p.S866= |
Synonymous |
22/24 |
- |
1 |
11-62393834-G-A |
c.2597C>T |
p.S866L |
Missense |
22/24 |
- |
1 |
11-62393836-G-C |
c.2595C>G |
p.F865L |
Missense |
22/24 |
- |
1 |
11-62393836-G-T |
c.2595C>A |
p.F865L |
Missense |
22/24 |
- |
1 |
11-62393838-A-G |
c.2593T>C |
p.F865L |
Missense |
22/24 |
- |
1 |
11-62393840-C-T |
c.2591G>A |
p.R864Q |
Missense |
22/24 |
- |
5 |
11-62393841-G-A |
c.2590C>T |
p.R864* |
Nonsense |
22/24 |
- |
1 |
11-62393841-G-T |
c.2590C>A |
p.R864= |
Synonymous |
22/24 |
- |
1 |
11-62393843-C-A |
c.2588G>T |
p.R863L |
Missense |
22/24 |
- |
1 |
11-62393843-C-T |
c.2588G>A |
p.R863H |
Missense |
22/24 |
- |
3 |
11-62393851-G-A |
c.2580C>T |
p.F860= |
Synonymous |
22/24 |
- |
3 |
11-62393855-T-A |
c.2576A>T |
p.E859V |
Missense |
22/24 |
- |
2 |
11-62393859-G-T |
c.2572C>A |
p.Q858K |
Missense |
22/24 |
- |
1 |
11-62393860-GC-TT |
c.2570_2571delinsAA |
p.R857Q |
Missense |
22/24 |
- |
1 |
11-62393861-C-A |
c.2570G>T |
p.R857L |
Missense |
22/24 |
- |
1 |
11-62393861-C-T |
c.2570G>A |
p.R857H |
Missense |
22/24 |
- |
1 |
11-62393862-G-A |
c.2569C>T |
p.R857C |
Missense |
22/24 |
- |
1 |
11-62393868-G-A |
c.2563C>T |
p.Q855* |
Nonsense |
22/24 |
- |
1 |
11-62393868-G-C |
c.2563C>G |
p.Q855E |
Missense |
22/24 |
- |
2 |
11-62393873-T-C |
c.2558A>G |
p.N853S |
Missense |
22/24 |
- |
1 |
11-62393878-CG-GA |
c.2552_2553delinsTC |
p.T851I |
Missense |
22/24 |
- |
1 |
11-62393883-G-A |
c.2548C>T |
p.H850Y |
Missense |
22/24 |
- |
1 |
11-62393902-C-T |
c.2529G>A |
p.E843= |
Synonymous |
22/24 |
- |
1 |
11-62393905-T-A |
c.2526A>T |
p.G842= |
Synonymous |
22/24 |
- |
2 |
11-62393905-T-C |
c.2526A>G |
p.G842= |
Synonymous |
22/24 |
- |
1 |
11-62393905-T-G |
c.2526A>C |
p.G842= |
Synonymous |
22/24 |
- |
1 |
11-62393907-C-A |
c.2524G>T |
p.G842* |
Nonsense |
22/24 |
- |
2 |
11-62393907-C-G |
c.2524G>C |
p.G842R |
Missense |
22/24 |
- |
1 |
11-62393907-C-T |
c.2524G>A |
p.G842R |
Missense |
22/24 |
- |
1 |
11-62393913-C-A |
c.2518G>T |
p.A840S |
Missense |
22/24 |
- |
1 |
11-62393914-T-C |
c.2517A>G |
p.T839= |
Synonymous |
22/24 |
- |
1 |
11-62394042-C-T |
c.2511+1G>A |
- |
IntronicSNV |
- |
21/23 |
2 |
11-62394045-G-A |
c.2509C>T |
p.Q837* |
Nonsense |
21/24 |
- |
1 |
11-62394046-A-C |
c.2508T>G |
p.P836= |
Synonymous |
21/24 |
- |
1 |
11-62394046-A-G |
c.2508T>C |
p.P836= |
Synonymous |
21/24 |
- |
1 |
11-62394046-A-T |
c.2508T>A |
p.P836= |
Synonymous |
21/24 |
- |
1 |
11-62394049-G-A |
c.2505C>T |
p.S835= |
Synonymous |
21/24 |
- |
1 |
11-62394049-G-C |
c.2505C>G |
p.S835R |
Missense |
21/24 |
- |
1 |
11-62394049-G-T |
c.2505C>A |
p.S835R |
Missense |
21/24 |
- |
1 |
11-62394051-T-G |
c.2503A>C |
p.S835R |
Missense |
21/24 |
- |
1 |
11-62394050-C-T |
c.2504G>A |
p.S835N |
Missense |
21/24 |
- |
1 |
11-62394054-G-A |
c.2500C>T |
p.L834F |
Missense |
21/24 |
- |
1 |
11-62394054-G-T |
c.2500C>A |
p.L834I |
Missense |
21/24 |
- |
1 |
11-62394056-G-A |
c.2498C>T |
p.A833V |
Missense |
21/24 |
- |
1 |
11-62394059-A-G |
c.2495T>C |
p.V832A |
Missense |
21/24 |
- |
1 |
11-62394066-G-A |
c.2488C>T |
p.L830F |
Missense |
21/24 |
- |
4 |
11-62394066-G-GCTCCATCTCAA |
c.2487_2488insTTGAGATGGAG |
p.F831Rfs*67 |
Frameshift |
21/24 |
- |
1 |
11-62394069-T-C |
c.2485A>G |
p.T829A |
Missense |
21/24 |
- |
1 |
11-62394070-G-C |
c.2484C>G |
p.I828M |
Missense |
21/24 |
- |
3 |
11-62394072-T-G |
c.2482A>C |
p.I828L |
Missense |
21/24 |
- |
1 |
11-62394075-G-A |
c.2479C>T |
p.P827S |
Missense |
21/24 |
- |
2 |
11-62394077-T-C |
c.2477A>G |
p.D826G |
Missense |
21/24 |
- |
1 |
11-62394085-C-A |
c.2469G>T |
p.M823I |
Missense |
21/24 |
- |
1 |
11-62394085-C-G |
c.2469G>C |
p.M823I |
Missense |
21/24 |
- |
1 |
11-62394085-C-T |
c.2469G>A |
p.M823I |
Missense |
21/24 |
- |
1 |
11-62394088-A-G |
c.2466T>C |
p.C822= |
Synonymous |
21/24 |
- |
1 |
11-62394094-T-A |
c.2460A>T |
p.S820= |
Synonymous |
21/24 |
- |
2 |
11-62394094-T-C |
c.2460A>G |
p.S820= |
Synonymous |
21/24 |
- |
2 |
11-62394094-T-G |
c.2460A>C |
p.S820= |
Synonymous |
21/24 |
- |
2 |
11-62394095-G-A |
c.2459C>T |
p.S820L |
Missense |
21/24 |
- |
2 |
11-62394099-A-C |
c.2455T>G |
p.S819A |
Missense |
21/24 |
- |
1 |
11-62394101-C-T |
c.2453G>A |
p.R818Q |
Missense |
21/24 |
- |
1 |
11-62394102-G-A |
c.2452C>T |
p.R818W |
Missense |
21/24 |
- |
1 |
11-62394103-CC-AT |
c.2450_2451delinsAT |
p.R817H |
Missense |
21/24 |
- |
1 |
11-62394103-CCG-GCT |
c.2449_2451delinsAGC |
p.R817S |
Missense |
21/24 |
- |
1 |
11-62394103-C-A |
c.2451G>T |
p.R817= |
Synonymous |
21/24 |
- |
1 |
11-62394103-C-G |
c.2451G>C |
p.R817= |
Synonymous |
21/24 |
- |
1 |
11-62394103-C-T |
c.2451G>A |
p.R817= |
Synonymous |
21/24 |
- |
1 |
11-62394105-G-A |
c.2449C>T |
p.R817W |
Missense |
21/24 |
- |
4 |
11-62394105-G-T |
c.2449C>A |
p.R817= |
Synonymous |
21/24 |
- |
1 |
11-62394108-C-A |
c.2446G>T |
p.V816L |
Missense |
21/24 |
- |
3 |
11-62394108-C-G |
c.2446G>C |
p.V816L |
Missense |
21/24 |
- |
1 |
11-62394110-C-T |
c.2444G>A |
p.R815Q |
Missense |
21/24 |
- |
1 |
11-62394111-G-A |
c.2443C>T |
p.R815* |
Nonsense |
21/24 |
- |
1 |
11-62394119-C-T |
c.2435G>A |
p.R812Q |
Missense |
21/24 |
- |
2 |
11-62394122-G-A |
c.2432C>T |
p.P811L |
Missense |
21/24 |
- |
1 |
11-62394125-A-G |
c.2429T>C |
p.V810A |
Missense |
21/24 |
- |
1 |
11-62394126-C-A |
c.2428G>T |
p.V810L |
Missense |
21/24 |
- |
2 |
11-62394126-C-T |
c.2428G>A |
p.V810M |
Missense |
21/24 |
- |
2 |
11-62394127-G-A |
c.2427C>T |
p.I809= |
Synonymous |
21/24 |
- |
1 |
11-62394127-G-C |
c.2427C>G |
p.I809M |
Missense |
21/24 |
- |
1 |
11-62394132-T-C |
c.2422A>G |
p.T808A |
Missense |
21/24 |
- |
1 |
11-62394134-C-A |
c.2420G>T |
p.G807V |
Missense |
21/24 |
- |
1 |
11-62394140-C-T |
c.2414G>A |
p.R805H |
Missense |
21/24 |
- |
2 |
11-62394141-G-A |
c.2413C>T |
p.R805C |
Missense |
21/24 |
- |
1 |
11-62394152-G-A |
c.2402C>T |
p.P801L |
Missense |
21/24 |
- |
1 |
11-62394154-G-A |
c.2400C>T |
p.I800= |
Synonymous |
21/24 |
- |
1 |
11-62394333-C-T |
c.2396G>A |
p.S799N |
Missense |
20/24 |
- |
1 |
11-62394338-T-C |
c.2391A>G |
p.L797= |
Synonymous |
20/24 |
- |
1 |
11-62394340-G-T |
c.2389C>A |
p.L797I |
Missense |
20/24 |
- |
1 |
11-62394344-T-A |
c.2385A>T |
p.V795= |
Synonymous |
20/24 |
- |
3 |
11-62394345-A-C |
c.2384T>G |
p.V795G |
Missense |
20/24 |
- |
1 |
11-62394346-C-G |
c.2383G>C |
p.V795L |
Missense |
20/24 |
- |
1 |
11-62394346-C-T |
c.2383G>A |
p.V795I |
Missense |
20/24 |
- |
2 |
11-62394358-G-C |
c.2371C>G |
p.L791V |
Missense |
20/24 |
- |
2 |
11-62394360-G-A |
c.2369C>T |
p.T790I |
Missense |
20/24 |
- |
1 |
11-62394361-T-G |
c.2368A>C |
p.T790P |
Missense |
20/24 |
- |
2 |
11-62394364-G-C |
c.2365C>G |
p.Q789E |
Missense |
20/24 |
- |
1 |
11-62394367-G-A |
c.2362C>T |
p.P788S |
Missense |
20/24 |
- |
1 |
11-62394370-C-T |
c.2359G>A |
p.G787S |
Missense |
20/24 |
- |
2 |
11-62394371-A-G |
c.2358T>C |
p.H786= |
Synonymous |
20/24 |
- |
1 |
11-62394372-T-C |
c.2357A>G |
p.H786R |
Missense |
20/24 |
- |
1 |
11-62394374-A-G |
c.2355T>C |
p.H785= |
Synonymous |
20/24 |
- |
1 |
11-62394376-G-T |
c.2353C>A |
p.H785N |
Missense |
20/24 |
- |
1 |
11-62394377-C-T |
c.2352G>A |
p.K784= |
Synonymous |
20/24 |
- |
1 |
11-62394385-A-G |
c.2344T>C |
p.Y782H |
Missense |
20/24 |
- |
1 |
11-62394396-T-C |
c.2333A>G |
p.D778G |
Missense |
20/24 |
- |
1 |
11-62394398-A-G |
c.2331T>C |
p.Y777= |
Synonymous |
20/24 |
- |
1 |
11-62394404-C-A |
c.2325G>T |
p.V775= |
Synonymous |
20/24 |
- |
1 |
11-62394445-G-A |
c.2323-39C>T |
- |
IntronicSNV |
- |
19/23 |
1 |
11-62394521-T-A |
c.2321A>T |
p.E774V |
Missense |
19/24 |
- |
1 |
11-62394523-C-T |
c.2319G>A |
p.G773= |
Synonymous |
19/24 |
- |
1 |
11-62394531-C-G |
c.2311G>C |
p.G771R |
Missense |
19/24 |
- |
1 |
11-62394531-C-T |
c.2311G>A |
p.G771S |
Missense |
19/24 |
- |
1 |
11-62394536-AG-GA |
c.2305_2306delinsTC |
p.L769S |
Missense |
19/24 |
- |
1 |
11-62394537-G-C |
c.2305C>G |
p.L769V |
Missense |
19/24 |
- |
1 |
11-62394543-C-G |
c.2299G>C |
p.V767L |
Missense |
19/24 |
- |
1 |
11-62394552-C-A |
c.2290G>T |
p.G764C |
Missense |
19/24 |
- |
1 |
11-62394554-T-C |
c.2288A>G |
p.H763R |
Missense |
19/24 |
- |
1 |
11-62394558-C-T |
c.2284G>A |
p.A762T |
Missense |
19/24 |
- |
1 |
11-62394567-C-T |
c.2275G>A |
p.D759N |
Missense |
19/24 |
- |
1 |
11-62394577-G-C |
c.2265C>G |
p.H755Q |
Missense |
19/24 |
- |
1 |
11-62394577-G-T |
c.2265C>A |
p.H755Q |
Missense |
19/24 |
- |
1 |
11-62394582-C-G |
c.2260G>C |
p.V754L |
Missense |
19/24 |
- |
2 |
11-62394585-G-A |
c.2257C>T |
p.L753= |
Synonymous |
19/24 |
- |
1 |
11-62394589-CGC-ACA |
c.2251_2253delinsTGT |
p.A751C |
Missense |
19/24 |
- |
1 |
11-62394590-G-A |
c.2252C>T |
p.A751V |
Missense |
19/24 |
- |
3 |
11-62394590-G-C |
c.2252C>G |
p.A751G |
Missense |
19/24 |
- |
1 |
11-62394595-C-A |
c.2247G>T |
p.G749= |
Synonymous |
19/24 |
- |
1 |
11-62394595-C-G |
c.2247G>C |
p.G749= |
Synonymous |
19/24 |
- |
1 |
11-62394595-C-T |
c.2247G>A |
p.G749= |
Synonymous |
19/24 |
- |
1 |
11-62394652-C-A |
c.2246-56G>T |
- |
IntronicSNV |
- |
18/23 |
1 |
11-62394652-C-T |
c.2246-56G>A |
- |
IntronicSNV |
- |
18/23 |
1 |
11-62394766-A-G |
c.2240T>C |
p.L747S |
Missense |
18/24 |
- |
1 |
11-62394776-C-T |
c.2230G>A |
p.D744N |
Missense |
18/24 |
- |
2 |
11-62394777-A-G |
c.2229T>C |
p.D743= |
Synonymous |
18/24 |
- |
1 |
11-62394779-C-T |
c.2227G>A |
p.D743N |
Missense |
18/24 |
- |
2 |
11-62394780-T-C |
c.2226A>G |
p.I742M |
Missense |
18/24 |
- |
3 |
11-62394782-T-A |
c.2224A>T |
p.I742L |
Missense |
18/24 |
- |
1 |
11-62394784-T-C |
c.2222A>G |
p.N741S |
Missense |
18/24 |
- |
1 |
11-62394820-A-G |
c.2186T>C |
p.L729P |
Missense |
18/24 |
- |
1 |
11-62394820-A-T |
c.2186T>A |
p.L729Q |
Missense |
18/24 |
- |
3 |
11-62394881-A-G |
c.2181-56T>C |
- |
IntronicSNV |
- |
17/23 |
3 |
11-62395061-G-A |
c.2181-236C>T |
- |
IntronicSNV |
- |
17/23 |
1 |
11-62396241-CT-TG |
c.2179_2180delinsCA |
p.R727Q |
Missense |
17/24 |
- |
1 |
11-62396244-A-G |
c.2177T>C |
p.M726T |
Missense |
17/24 |
- |
1 |
11-62396249-A-C |
c.2172T>G |
p.P724= |
Synonymous |
17/24 |
- |
1 |
11-62396249-A-G |
c.2172T>C |
p.P724= |
Synonymous |
17/24 |
- |
2 |
11-62396249-A-T |
c.2172T>A |
p.P724= |
Synonymous |
17/24 |
- |
1 |
11-62396251-G-T |
c.2170C>A |
p.P724T |
Missense |
17/24 |
- |
1 |
11-62396256-C-G |
c.2165G>C |
p.G722A |
Missense |
17/24 |
- |
1 |
11-62396262-CG-TA |
c.2158_2159delinsTA |
p.R720* |
Nonsense |
17/24 |
- |
1 |
11-62396262-C-T |
c.2159G>A |
p.R720Q |
Missense |
17/24 |
- |
3 |
11-62396263-G-A |
c.2158C>T |
p.R720W |
Missense |
17/24 |
- |
2 |
11-62396266-G-A |
c.2155C>T |
p.H719Y |
Missense |
17/24 |
- |
1 |
11-62396269-C-G |
c.2152G>C |
p.A718P |
Missense |
17/24 |
- |
1 |
11-62396272-G-C |
c.2149C>G |
p.Q717E |
Missense |
17/24 |
- |
1 |
11-62396273-A-C |
c.2148T>G |
p.Y716* |
Nonsense |
17/24 |
- |
2 |
11-62396273-A-T |
c.2148T>A |
p.Y716* |
Nonsense |
17/24 |
- |
2 |
11-62396274-T-C |
c.2147A>G |
p.Y716C |
Missense |
17/24 |
- |
1 |
11-62396281-G-A |
c.2140C>T |
p.L714F |
Missense |
17/24 |
- |
1 |
11-62396285-G-A |
c.2136C>T |
p.Y712= |
Synonymous |
17/24 |
- |
1 |
11-62396285-G-C |
c.2136C>G |
p.Y712* |
Nonsense |
17/24 |
- |
1 |
11-62396288-C-T |
c.2133G>A |
p.W711* |
Nonsense |
17/24 |
- |
3 |
11-62396289-C-T |
c.2132G>A |
p.W711* |
Nonsense |
17/24 |
- |
1 |
11-62396294-G-A |
c.2127C>T |
p.P709= |
Synonymous |
17/24 |
- |
2 |
11-62396294-G-C |
c.2127C>G |
p.P709= |
Synonymous |
17/24 |
- |
1 |
11-62396294-G-T |
c.2127C>A |
p.P709= |
Synonymous |
17/24 |
- |
1 |
11-62396296-G-T |
c.2125C>A |
p.P709T |
Missense |
17/24 |
- |
2 |
11-62396310-C-A |
c.2111G>T |
p.R704L |
Missense |
17/24 |
- |
1 |
11-62396313-T-A |
c.2108A>T |
p.Q703L |
Missense |
17/24 |
- |
1 |
11-62396315-G-A |
c.2106C>T |
p.G702= |
Synonymous |
17/24 |
- |
1 |
11-62396315-G-C |
c.2106C>G |
p.G702= |
Synonymous |
17/24 |
- |
1 |
11-62396315-G-T |
c.2106C>A |
p.G702= |
Synonymous |
17/24 |
- |
1 |
11-62396318-C-A |
c.2103G>T |
p.L701F |
Missense |
17/24 |
- |
2 |
11-62396322-G-A |
c.2099C>T |
p.A700V |
Missense |
17/24 |
- |
1 |
11-62396325-T-A |
c.2096A>T |
p.D699V |
Missense |
17/24 |
- |
1 |
11-62396326-C-T |
c.2095G>A |
p.D699N |
Missense |
17/24 |
- |
1 |
11-62396328-C-T |
c.2093G>A |
p.R698Q |
Missense |
17/24 |
- |
4 |
11-62396329-G-A |
c.2092C>T |
p.R698* |
Nonsense |
17/24 |
- |
1 |
11-62396332-TTA-T |
c.2087_2088del |
p.I696Nfs*48 |
Frameshift |
17/24 |
- |
1 |
11-62396339-A-G |
c.2082T>C |
p.N694= |
Synonymous |
17/24 |
- |
1 |
11-62396341-T-C |
c.2080A>G |
p.N694D |
Missense |
17/24 |
- |
1 |
11-62396347-G-T |
c.2074C>A |
p.Q692K |
Missense |
17/24 |
- |
1 |
11-62396353-G-C |
c.2068C>G |
p.P690A |
Missense |
17/24 |
- |
1 |
11-62396353-G-T |
c.2068C>A |
p.P690T |
Missense |
17/24 |
- |
1 |
11-62396364-G-C |
c.2057C>G |
p.P686R |
Missense |
17/24 |
- |
1 |
11-62396369-TCG-ACA |
c.2050_2052delinsTGT |
p.R684C |
Missense |
17/24 |
- |
1 |
11-62396370-C-T |
c.2051G>A |
p.R684Q |
Missense |
17/24 |
- |
1 |
11-62396371-G-A |
c.2050C>T |
p.R684* |
Nonsense |
17/24 |
- |
4 |
11-62396376-C-G |
c.2045G>C |
p.G682A |
Missense |
17/24 |
- |
1 |
11-62396379-G-A |
c.2042C>T |
p.T681I |
Missense |
17/24 |
- |
2 |
11-62396384-C-A |
c.2037G>T |
p.L679F |
Missense |
17/24 |
- |
1 |
11-62396387-G-A |
c.2034C>T |
p.H678= |
Synonymous |
17/24 |
- |
1 |
11-62396391-G-A |
c.2030C>T |
p.A677V |
Missense |
17/24 |
- |
1 |
11-62396398-C-T |
c.2023G>A |
p.A675T |
Missense |
17/24 |
- |
1 |
11-62396401-G-A |
c.2020C>T |
p.R674W |
Missense |
17/24 |
- |
5 |
11-62396404-A-G |
c.2017T>C |
p.F673L |
Missense |
17/24 |
- |
2 |
11-62396405-G-A |
c.2016C>T |
p.F672= |
Synonymous |
17/24 |
- |
2 |
11-62396405-G-C |
c.2016C>G |
p.F672L |
Missense |
17/24 |
- |
1 |
11-62396405-G-T |
c.2016C>A |
p.F672L |
Missense |
17/24 |
- |
1 |
11-62396407-A-G |
c.2014T>C |
p.F672L |
Missense |
17/24 |
- |
1 |
11-62396415-T-C |
c.2006A>G |
p.Y669C |
Missense |
17/24 |
- |
1 |
11-62396415-T-G |
c.2006A>C |
p.Y669S |
Missense |
17/24 |
- |
1 |
11-62396418-G-A |
c.2003C>T |
p.A668V |
Missense |
17/24 |
- |
2 |
11-62396419-C-T |
c.2002G>A |
p.A668T |
Missense |
17/24 |
- |
1 |
11-62396421-C-G |
c.2000G>C |
p.G667A |
Missense |
17/24 |
- |
1 |
11-62396424-A-C |
c.1997T>G |
p.M666R |
Missense |
17/24 |
- |
1 |
11-62396425-T-C |
c.1996A>G |
p.M666V |
Missense |
17/24 |
- |
1 |
11-62396437-G-A |
c.1984C>T |
p.R662C |
Missense |
17/24 |
- |
1 |
11-62396443-G-A |
c.1978C>T |
p.L660F |
Missense |
17/24 |
- |
1 |
11-62396452-G-A |
c.1969C>T |
p.P657S |
Missense |
17/24 |
- |
1 |
11-62396457-G-A |
c.1964C>T |
p.P655L |
Missense |
17/24 |
- |
1 |
11-62396462-T-A |
c.1959A>T |
p.K653N |
Missense |
17/24 |
- |
1 |
11-62396462-T-G |
c.1959A>C |
p.K653N |
Missense |
17/24 |
- |
1 |
11-62396465-G-A |
c.1956C>T |
p.F652= |
Synonymous |
17/24 |
- |
2 |
11-62396472-C-A |
c.1949G>T |
p.G650V |
Missense |
17/24 |
- |
1 |
11-62396472-C-T |
c.1949G>A |
p.G650D |
Missense |
17/24 |
- |
1 |
11-62396479-C-T |
c.1942G>A |
p.V648M |
Missense |
17/24 |
- |
1 |
11-62396481-T-A |
c.1940A>T |
p.D647V |
Missense |
17/24 |
- |
1 |
11-62396482-C-T |
c.1939G>A |
p.D647N |
Missense |
17/24 |
- |
1 |
11-62396483-C-T |
c.1938G>A |
p.A646= |
Synonymous |
17/24 |
- |
1 |
11-62396484-G-A |
c.1937C>T |
p.A646V |
Missense |
17/24 |
- |
2 |
11-62396692-C-G |
c.1910G>C |
p.G637A |
Missense |
16/24 |
- |
1 |
11-62396695-A-C |
c.1907T>G |
p.L636W |
Missense |
16/24 |
- |
1 |
11-62396698-C-G |
c.1904G>C |
p.S635T |
Missense |
16/24 |
- |
1 |
11-62396703-A-G |
c.1899T>C |
p.C633= |
Synonymous |
16/24 |
- |
1 |
11-62396704-C-T |
c.1898G>A |
p.C633Y |
Missense |
16/24 |
- |
1 |
11-62396711-G-A |
c.1891C>T |
p.P631S |
Missense |
16/24 |
- |
8 |
11-62396716-G-C |
c.1886C>G |
p.S629C |
Missense |
16/24 |
- |
1 |
11-62396720-T-C |
c.1882A>G |
p.I628V |
Missense |
16/24 |
- |
1 |
11-62396727-A-G |
c.1875T>C |
p.H625= |
Synonymous |
16/24 |
- |
2 |
11-62396731-T-C |
c.1871A>G |
p.D624G |
Missense |
16/24 |
- |
1 |
11-62396732-C-A |
c.1870G>T |
p.D624Y |
Missense |
16/24 |
- |
1 |
11-62396738-C-CA |
c.1863_1864insT |
p.E622* |
Nonsense |
16/24 |
- |
1 |
11-62396738-C-T |
c.1864G>A |
p.E622K |
Missense |
16/24 |
- |
1 |
11-62396739-G-A |
c.1863C>T |
p.A621= |
Synonymous |
16/24 |
- |
2 |
11-62396739-G-C |
c.1863C>G |
p.A621= |
Synonymous |
16/24 |
- |
1 |
11-62396739-G-T |
c.1863C>A |
p.A621= |
Synonymous |
16/24 |
- |
1 |
11-62396742-AG-CA |
c.1859_1860delinsTG |
p.T620M |
Missense |
16/24 |
- |
1 |
11-62396746-T-C |
c.1856A>G |
p.N619S |
Missense |
16/24 |
- |
1 |
11-62396750-C-T |
c.1852G>A |
p.D618N |
Missense |
16/24 |
- |
1 |
11-62396756-T-C |
c.1846A>G |
p.T616A |
Missense |
16/24 |
- |
1 |
11-62396762-C-T |
c.1840G>A |
p.V614M |
Missense |
16/24 |
- |
3 |
11-62396766-T-A |
c.1836A>T |
p.G612= |
Synonymous |
16/24 |
- |
1 |
11-62396766-T-C |
c.1836A>G |
p.G612= |
Synonymous |
16/24 |
- |
2 |
11-62396766-T-G |
c.1836A>C |
p.G612= |
Synonymous |
16/24 |
- |
1 |
11-62396767-C-G |
c.1835G>C |
p.G612A |
Missense |
16/24 |
- |
2 |
11-62396926-CT-C |
c.1834+133del |
- |
IntronicDeletion |
- |
15/23 |
1 |
11-62397057-T-C |
c.1834+3A>G |
- |
IntronicSNV |
- |
15/23 |
1 |
11-62397069-G-A |
c.1825C>T |
p.Q609* |
Nonsense |
15/24 |
- |
3 |
11-62397070-G-T |
c.1824C>A |
p.S608= |
Synonymous |
15/24 |
- |
1 |
11-62397075-C-T |
c.1819G>A |
p.G607S |
Missense |
15/24 |
- |
1 |
11-62397077-G-A |
c.1817C>T |
p.A606V |
Missense |
15/24 |
- |
1 |
11-62397082-G-C |
c.1812C>G |
p.F604L |
Missense |
15/24 |
- |
3 |
11-62397082-G-T |
c.1812C>A |
p.F604L |
Missense |
15/24 |
- |
2 |
11-62397084-A-G |
c.1810T>C |
p.F604L |
Missense |
15/24 |
- |
2 |
11-62397089-CT-TA |
c.1804_1805delinsTA |
p.R602* |
Nonsense |
15/24 |
- |
1 |
11-62397092-G-A |
c.1802C>T |
p.A601V |
Missense |
15/24 |
- |
1 |
11-62397093-C-T |
c.1801G>A |
p.A601T |
Missense |
15/24 |
- |
2 |
11-62397096-G-T |
c.1798C>A |
p.L600M |
Missense |
15/24 |
- |
1 |
11-62397103-G-A |
c.1791C>T |
p.P597= |
Synonymous |
15/24 |
- |
3 |
11-62397103-G-C |
c.1791C>G |
p.P597= |
Synonymous |
15/24 |
- |
4 |
11-62397103-G-T |
c.1791C>A |
p.P597= |
Synonymous |
15/24 |
- |
3 |
11-62397108-G-A |
c.1786C>T |
p.R596C |
Missense |
15/24 |
- |
1 |
11-62397114-T-C |
c.1780A>G |
p.M594V |
Missense |
15/24 |
- |
16 |
11-62397125-C-A |
c.1769G>T |
p.R590L |
Missense |
15/24 |
- |
1 |
11-62397128-T-A |
c.1766A>T |
p.Q589L |
Missense |
15/24 |
- |
1 |
11-62397128-T-C |
c.1766A>G |
p.Q589R |
Missense |
15/24 |
- |
1 |
11-62397129-G-T |
c.1765C>A |
p.Q589K |
Missense |
15/24 |
- |
1 |
11-62397133-C-A |
c.1761G>T |
p.L587= |
Synonymous |
15/24 |
- |
1 |
11-62397133-CAG-AAA |
c.1759_1761delinsTTT |
p.L587F |
Missense |
15/24 |
- |
1 |
11-62397140-T-A |
c.1754A>T |
p.D585V |
Missense |
15/24 |
- |
1 |
11-62397148-C-A |
c.1746G>T |
p.A582= |
Synonymous |
15/24 |
- |
1 |
11-62397151-C-A |
c.1743G>T |
p.M581I |
Missense |
15/24 |
- |
2 |
11-62397151-C-G |
c.1743G>C |
p.M581I |
Missense |
15/24 |
- |
2 |
11-62397151-C-T |
c.1743G>A |
p.M581I |
Missense |
15/24 |
- |
2 |
11-62397177-C-G |
c.1738-21G>C |
- |
IntronicSNV |
- |
14/23 |
9 |
11-62397286-CAC-GAT |
c.1735_1737delinsATC |
p.V579I |
Missense |
14/24 |
- |
1 |
11-62397291-A-G |
c.1732T>C |
p.Y578H |
Missense |
14/24 |
- |
1 |
11-62397299-T-C |
c.1724A>G |
p.Y575C |
Missense |
14/24 |
- |
1 |
11-62397308-T-C |
c.1715A>G |
p.H572R |
Missense |
14/24 |
- |
1 |
11-62397310-C-G |
c.1713G>C |
p.V571= |
Synonymous |
14/24 |
- |
1 |
11-62397312-C-T |
c.1711G>A |
p.V571M |
Missense |
14/24 |
- |
1 |
11-62397316-CCG-ACA |
c.1705_1707delinsTGT |
p.R569C |
Missense |
14/24 |
- |
1 |
11-62397319-G-C |
c.1704C>G |
p.H568Q |
Missense |
14/24 |
- |
1 |
11-62397326-C-T |
c.1697G>A |
p.W566* |
Nonsense |
14/24 |
- |
1 |
11-62397329-C-T |
c.1694G>A |
p.G565D |
Missense |
14/24 |
- |
1 |
11-62397331-CC-GT |
c.1691_1692delinsAC |
p.G564D |
Missense |
14/24 |
- |
1 |
11-62397335-T-C |
c.1688A>G |
p.Y563C |
Missense |
14/24 |
- |
1 |
11-62397352-G-T |
c.1671C>A |
p.L557= |
Synonymous |
14/24 |
- |
1 |
11-62397354-G-C |
c.1669C>G |
p.L557V |
Missense |
14/24 |
- |
1 |
11-62397359-G-A |
c.1664C>T |
p.T555I |
Missense |
14/24 |
- |
3 |
11-62397361-GAC-CAT |
c.1660_1662delinsATG |
p.V554M |
Missense |
14/24 |
- |
1 |
11-62397368-G-A |
c.1655C>T |
p.P552L |
Missense |
14/24 |
- |
1 |
11-62397381-C-T |
c.1642G>A |
p.V548M |
Missense |
14/24 |
- |
1 |
11-62397390-C-T |
c.1633G>A |
p.E545K |
Missense |
14/24 |
- |
1 |
11-62397394-C-A |
c.1629G>T |
p.M543I |
Missense |
14/24 |
- |
1 |
11-62397394-C-G |
c.1629G>C |
p.M543I |
Missense |
14/24 |
- |
2 |
11-62397394-C-T |
c.1629G>A |
p.M543I |
Missense |
14/24 |
- |
1 |
11-62397401-T-C |
c.1622A>G |
p.N541S |
Missense |
14/24 |
- |
1 |
11-62397416-T-G |
c.1607A>C |
p.N536T |
Missense |
14/24 |
- |
1 |
11-62397417-T-G |
c.1606A>C |
p.N536H |
Missense |
14/24 |
- |
1 |
11-62397419-G-C |
c.1604C>G |
p.P535R |
Missense |
14/24 |
- |
1 |
11-62397421-A-C |
c.1602T>G |
p.A534= |
Synonymous |
14/24 |
- |
1 |
11-62397421-A-G |
c.1602T>C |
p.A534= |
Synonymous |
14/24 |
- |
1 |
11-62397421-A-T |
c.1602T>A |
p.A534= |
Synonymous |
14/24 |
- |
1 |
11-62397423-C-G |
c.1600G>C |
p.A534P |
Missense |
14/24 |
- |
1 |
11-62397423-C-T |
c.1600G>A |
p.A534T |
Missense |
14/24 |
- |
1 |
11-62397425-G-A |
c.1598C>T |
p.S533L |
Missense |
14/24 |
- |
3 |
11-62397428-C-G |
c.1595G>C |
p.G532A |
Missense |
14/24 |
- |
1 |
11-62397437-C-T |
c.1594-8G>A |
- |
IntronicSNV |
- |
13/23 |
1 |
11-62397477-G-A |
c.1594-48C>T |
- |
IntronicSNV |
- |
13/23 |
1 |
11-62397682-T-A |
c.1580A>T |
p.Y527F |
Missense |
13/24 |
- |
1 |
11-62397685-C-A |
c.1577G>T |
p.S526I |
Missense |
13/24 |
- |
1 |
11-62397692-T-A |
c.1570A>T |
p.M524L |
Missense |
13/24 |
- |
1 |
11-62397692-T-C |
c.1570A>G |
p.M524V |
Missense |
13/24 |
- |
1 |
11-62397698-C-T |
c.1564G>A |
p.A522T |
Missense |
13/24 |
- |
1 |
11-62397702-C-T |
c.1560G>A |
p.W520* |
Nonsense |
13/24 |
- |
1 |
11-62397703-C-T |
c.1559G>A |
p.W520* |
Nonsense |
13/24 |
- |
1 |
11-62397717-G-A |
c.1545C>T |
p.P515= |
Synonymous |
13/24 |
- |
2 |
11-62397717-G-C |
c.1545C>G |
p.P515= |
Synonymous |
13/24 |
- |
2 |
11-62397717-G-T |
c.1545C>A |
p.P515= |
Synonymous |
13/24 |
- |
2 |
11-62397722-T-G |
c.1540A>C |
p.N514H |
Missense |
13/24 |
- |
1 |
11-62397726-G-A |
c.1536C>T |
p.F512= |
Synonymous |
13/24 |
- |
1 |
11-62397726-G-C |
c.1536C>G |
p.F512L |
Missense |
13/24 |
- |
1 |
11-62397730-T-C |
c.1532A>G |
p.D511G |
Missense |
13/24 |
- |
1 |
11-62397732-A-G |
c.1530T>C |
p.P510= |
Synonymous |
13/24 |
- |
1 |
11-62397733-G-A |
c.1529C>T |
p.P510L |
Missense |
13/24 |
- |
1 |
11-62397735-G-A |
c.1527C>T |
p.Y509= |
Synonymous |
13/24 |
- |
3 |
11-62397743-C-A |
c.1519G>T |
p.A507S |
Missense |
13/24 |
- |
2 |
11-62397853-G-A |
c.1511C>T |
p.P504L |
Missense |
12/24 |
- |
1 |
11-62397854-G-A |
c.1510C>T |
p.P504S |
Missense |
12/24 |
- |
1 |
11-62397857-A-C |
c.1507T>G |
p.W503G |
Missense |
12/24 |
- |
1 |
11-62397865-C-G |
c.1499G>C |
p.G500A |
Missense |
12/24 |
- |
1 |
11-62397883-T-C |
c.1481A>G |
p.D494G |
Missense |
12/24 |
- |
2 |
11-62397884-C-T |
c.1480G>A |
p.D494N |
Missense |
12/24 |
- |
1 |
11-62397886-C-T |
c.1478G>A |
p.R493Q |
Missense |
12/24 |
- |
1 |
11-62397885-C-A |
c.1479G>T |
p.R493= |
Synonymous |
12/24 |
- |
1 |
11-62397885-C-G |
c.1479G>C |
p.R493= |
Synonymous |
12/24 |
- |
3 |
11-62397885-C-T |
c.1479G>A |
p.R493= |
Synonymous |
12/24 |
- |
1 |
11-62397887-G-T |
c.1477C>A |
p.R493= |
Synonymous |
12/24 |
- |
1 |
11-62397888-G-A |
c.1476C>T |
p.T492= |
Synonymous |
12/24 |
- |
1 |
11-62397892-T-G |
c.1472A>C |
p.K491T |
Missense |
12/24 |
- |
1 |
11-62397897-A-G |
c.1467T>C |
p.Y489= |
Synonymous |
12/24 |
- |
1 |
11-62397900-CAG-AAA |
c.1462_1464delinsTTT |
p.L488F |
Missense |
12/24 |
- |
1 |
11-62397901-A-T |
c.1463T>A |
p.L488Q |
Missense |
12/24 |
- |
1 |
11-62397908-G-A |
c.1456C>T |
p.L486= |
Synonymous |
12/24 |
- |
1 |
11-62397912-C-G |
c.1452G>C |
p.R484= |
Synonymous |
12/24 |
- |
1 |
11-62397914-G-A |
c.1450C>T |
p.R484W |
Missense |
12/24 |
- |
1 |
11-62397914-G-C |
c.1450C>G |
p.R484G |
Missense |
12/24 |
- |
1 |
11-62397923-C-T |
c.1441G>A |
p.E481K |
Missense |
12/24 |
- |
1 |
11-62397929-C-G |
c.1435G>C |
p.V479L |
Missense |
12/24 |
- |
1 |
11-62397929-C-T |
c.1435G>A |
p.V479I |
Missense |
12/24 |
- |
1 |
11-62397931-CG-TT |
c.1432_1433delinsAA |
p.R478K |
Missense |
12/24 |
- |
1 |
11-62397933-G-A |
c.1431C>T |
p.Y477= |
Synonymous |
12/24 |
- |
1 |
11-62397937-C-A |
c.1427G>T |
p.G476V |
Missense |
12/24 |
- |
1 |
11-62397941-A-G |
c.1423T>C |
p.S475P |
Missense |
12/24 |
- |
1 |
11-62397944-C-A |
c.1420G>T |
p.D474Y |
Missense |
12/24 |
- |
1 |
11-62397949-T-G |
c.1415A>C |
p.K472T |
Missense |
12/24 |
- |
2 |
11-62397952-A-G |
c.1412T>C |
p.I471T |
Missense |
12/24 |
- |
1 |
11-62397956-G-C |
c.1408C>G |
p.H470D |
Missense |
12/24 |
- |
1 |
11-62397958-G-A |
c.1406C>T |
p.P469L |
Missense |
12/24 |
- |
1 |
11-62397962-C-G |
c.1402G>C |
p.D468H |
Missense |
12/24 |
- |
2 |
11-62397964-A-G |
c.1400T>C |
p.V467A |
Missense |
12/24 |
- |
1 |
11-62397965-C-T |
c.1399G>A |
p.V467I |
Missense |
12/24 |
- |
7 |
11-62397966-G-A |
c.1398C>T |
p.I466= |
Synonymous |
12/24 |
- |
3 |
11-62397975-C-T |
c.1389G>A |
p.L463= |
Synonymous |
12/24 |
- |
1 |
11-62398055-G-A |
c.1386+18C>T |
- |
IntronicSNV |
- |
11/23 |
1 |
11-62398055-G-C |
c.1386+18C>G |
- |
IntronicSNV |
- |
11/23 |
1 |
11-62398055-G-T |
c.1386+18C>A |
- |
IntronicSNV |
- |
11/23 |
1 |
11-62398073-C-A |
c.1386G>T |
p.K462N |
Missense |
11/24 |
- |
1 |
11-62398073-C-G |
c.1386G>C |
p.K462N |
Missense |
11/24 |
- |
1 |
11-62398078-G-A |
c.1381C>T |
p.R461W |
Missense |
11/24 |
- |
1 |
11-62398082-C-T |
c.1377G>A |
p.K459= |
Synonymous |
11/24 |
- |
1 |
11-62398095-C-T |
c.1364G>A |
p.R455H |
Missense |
11/24 |
- |
2 |
11-62398099-C-G |
c.1360G>C |
p.E454Q |
Missense |
11/24 |
- |
1 |
11-62398103-C-T |
c.1356G>A |
p.M452I |
Missense |
11/24 |
- |
1 |
11-62398104-A-G |
c.1355T>C |
p.M452T |
Missense |
11/24 |
- |
2 |
11-62398107-G-T |
c.1352C>A |
p.T451N |
Missense |
11/24 |
- |
1 |
11-62398109-GCG-CCA |
c.1348_1350delinsTGG |
p.R450W |
Missense |
11/24 |
- |
1 |
11-62398110-C-T |
c.1349G>A |
p.R450H |
Missense |
11/24 |
- |
2 |
11-62398111-G-A |
c.1348C>T |
p.R450C |
Missense |
11/24 |
- |
3 |
11-62398111-G-T |
c.1348C>A |
p.R450S |
Missense |
11/24 |
- |
2 |
11-62398113-G-A |
c.1346C>T |
p.P449L |
Missense |
11/24 |
- |
1 |
11-62398117-G-C |
c.1342C>G |
p.Q448E |
Missense |
11/24 |
- |
2 |
11-62398118-A-G |
c.1341T>C |
p.P447= |
Synonymous |
11/24 |
- |
1 |
11-62398125-C-T |
c.1334G>A |
p.R445H |
Missense |
11/24 |
- |
2 |
11-62398130-G-A |
c.1329C>T |
p.P443= |
Synonymous |
11/24 |
- |
1 |
11-62398131-G-A |
c.1328C>T |
p.P443L |
Missense |
11/24 |
- |
1 |
11-62398131-G-C |
c.1328C>G |
p.P443R |
Missense |
11/24 |
- |
1 |
11-62398135-C-T |
c.1324G>A |
p.D442N |
Missense |
11/24 |
- |
1 |
11-62398139-G-A |
c.1320C>T |
p.T440= |
Synonymous |
11/24 |
- |
1 |
11-62398147-A-G |
c.1312T>C |
p.Y438H |
Missense |
11/24 |
- |
1 |
11-62398149-C-T |
c.1310G>A |
p.R437Q |
Missense |
11/24 |
- |
1 |
11-62398148-C-A |
c.1311G>T |
p.R437= |
Synonymous |
11/24 |
- |
1 |
11-62398148-C-G |
c.1311G>C |
p.R437= |
Synonymous |
11/24 |
- |
1 |
11-62398148-C-T |
c.1311G>A |
p.R437= |
Synonymous |
11/24 |
- |
1 |
11-62398150-G-A |
c.1309C>T |
p.R437W |
Missense |
11/24 |
- |
1 |
11-62398150-G-T |
c.1309C>A |
p.R437= |
Synonymous |
11/24 |
- |
2 |
11-62398152-T-C |
c.1307A>G |
p.K436R |
Missense |
11/24 |
- |
1 |
11-62398155-C-T |
c.1304G>A |
p.G435D |
Missense |
11/24 |
- |
1 |
11-62398159-C-T |
c.1300G>A |
p.D434N |
Missense |
11/24 |
- |
1 |
11-62398162-C-G |
c.1297G>C |
p.A433P |
Missense |
11/24 |
- |
1 |
11-62398162-C-T |
c.1297G>A |
p.A433T |
Missense |
11/24 |
- |
1 |
11-62398163-A-C |
c.1296T>G |
p.H432Q |
Missense |
11/24 |
- |
1 |
11-62398163-A-T |
c.1296T>A |
p.H432Q |
Missense |
11/24 |
- |
1 |
11-62398167-T-C |
c.1292A>G |
p.E431G |
Missense |
11/24 |
- |
1 |
11-62398167-T-TC |
c.1291dup |
p.E431Gfs*4 |
Frameshift |
11/24 |
- |
1 |
11-62398170-A-G |
c.1289T>C |
p.I430T |
Missense |
11/24 |
- |
1 |
11-62398172-G-A |
c.1287C>T |
p.D429= |
Synonymous |
11/24 |
- |
1 |
11-62398174-C-T |
c.1285G>A |
p.D429N |
Missense |
11/24 |
- |
3 |
11-62398180-A-C |
c.1279T>G |
p.W427G |
Missense |
11/24 |
- |
1 |
11-62398184-GAC-CAT |
c.1273_1275delinsATG |
p.V425M |
Missense |
11/24 |
- |
1 |
11-62398199-G-A |
c.1260C>T |
p.N420= |
Synonymous |
11/24 |
- |
1 |
11-62398200-T-C |
c.1259A>G |
p.N420S |
Missense |
11/24 |
- |
3 |
11-62398200-T-G |
c.1259A>C |
p.N420T |
Missense |
11/24 |
- |
2 |
11-62398204-G-A |
c.1255C>T |
p.H419Y |
Missense |
11/24 |
- |
4 |
11-62398205-A-T |
c.1254T>A |
p.D418E |
Missense |
11/24 |
- |
1 |
11-62398206-T-C |
c.1253A>G |
p.D418G |
Missense |
11/24 |
- |
1 |
11-62398217-C-A |
c.1242G>T |
p.Q414H |
Missense |
11/24 |
- |
1 |
11-62398217-C-G |
c.1242G>C |
p.Q414H |
Missense |
11/24 |
- |
1 |
11-62398222-C-T |
c.1237G>A |
p.D413N |
Missense |
11/24 |
- |
1 |
11-62398232-C-T |
c.1227G>A |
p.V409= |
Synonymous |
11/24 |
- |
1 |
11-62398239-G-A |
c.1220C>T |
p.A407V |
Missense |
11/24 |
- |
1 |
11-62398239-G-C |
c.1220C>G |
p.A407G |
Missense |
11/24 |
- |
1 |
11-62398240-C-G |
c.1219G>C |
p.A407P |
Missense |
11/24 |
- |
1 |
11-62398245-T-G |
c.1214A>C |
p.D405A |
Missense |
11/24 |
- |
1 |
11-62398249-G-A |
c.1210C>T |
p.R404W |
Missense |
11/24 |
- |
2 |
11-62398259-AC-TT |
c.1199_1200delinsAA |
p.R400Q |
Missense |
11/24 |
- |
1 |
11-62398261-G-A |
c.1198C>T |
p.R400C |
Missense |
11/24 |
- |
2 |
11-62398270-G-A |
c.1189C>T |
p.H397Y |
Missense |
11/24 |
- |
2 |
11-62398274-G-A |
c.1185C>T |
p.G395= |
Synonymous |
11/24 |
- |
1 |
11-62398274-G-C |
c.1185C>G |
p.G395= |
Synonymous |
11/24 |
- |
1 |
11-62398277-G-A |
c.1182C>T |
p.L394= |
Synonymous |
11/24 |
- |
1 |
11-62398277-G-C |
c.1182C>G |
p.L394= |
Synonymous |
11/24 |
- |
1 |
11-62398277-G-T |
c.1182C>A |
p.L394= |
Synonymous |
11/24 |
- |
1 |
11-62398281-G-A |
c.1178C>T |
p.S393F |
Missense |
11/24 |
- |
3 |
11-62398282-A-G |
c.1177T>C |
p.S393P |
Missense |
11/24 |
- |
1 |
11-62398287-A-C |
c.1172T>G |
p.L391R |
Missense |
11/24 |
- |
1 |
11-62398290-G-A |
c.1169C>T |
p.P390L |
Missense |
11/24 |
- |
1 |
11-62398291-G-A |
c.1168C>T |
p.P390S |
Missense |
11/24 |
- |
2 |
11-62398294-G-A |
c.1165C>T |
p.P389S |
Missense |
11/24 |
- |
1 |
11-62398296-AA-GG |
c.1162_1163delinsCC |
p.L388P |
Missense |
11/24 |
- |
1 |
11-62398296-A-G |
c.1163T>C |
p.L388S |
Missense |
11/24 |
- |
1 |
11-62398298-C-T |
c.1161G>A |
p.A387= |
Synonymous |
11/24 |
- |
1 |
11-62398304-G-A |
c.1155C>T |
p.T385= |
Synonymous |
11/24 |
- |
1 |
11-62398500-A-T |
c.1150+2T>A |
- |
IntronicSNV |
- |
10/23 |
1 |
11-62398508-G-C |
c.1144C>G |
p.L382V |
Missense |
10/24 |
- |
1 |
11-62398516-T-C |
c.1136A>G |
p.Y379C |
Missense |
10/24 |
- |
1 |
11-62398517-A-G |
c.1135T>C |
p.Y379H |
Missense |
10/24 |
- |
1 |
11-62398518-T-C |
c.1134A>G |
p.Q378= |
Synonymous |
10/24 |
- |
1 |
11-62398521-CCG-ACA |
c.1129_1131delinsTGT |
p.R377C |
Missense |
10/24 |
- |
1 |
11-62398522-C-A |
c.1130G>T |
p.R377L |
Missense |
10/24 |
- |
1 |
11-62398529-C-T |
c.1123G>A |
p.V375I |
Missense |
10/24 |
- |
3 |
11-62398539-G-A |
c.1113C>T |
p.S371= |
Synonymous |
10/24 |
- |
1 |
11-62398539-G-C |
c.1113C>G |
p.S371= |
Synonymous |
10/24 |
- |
1 |
11-62398539-G-T |
c.1113C>A |
p.S371= |
Synonymous |
10/24 |
- |
1 |
11-62398540-G-A |
c.1112C>T |
p.S371F |
Missense |
10/24 |
- |
2 |
11-62398544-G-A |
c.1108C>T |
p.P370S |
Missense |
10/24 |
- |
1 |
11-62398549-A-G |
c.1103T>C |
p.L368P |
Missense |
10/24 |
- |
1 |
11-62398563-G-A |
c.1089C>T |
p.D363= |
Synonymous |
10/24 |
- |
1 |
11-62398569-G-C |
c.1083C>G |
p.I361M |
Missense |
10/24 |
- |
2 |
11-62398582-G-C |
c.1070C>G |
p.S357* |
Nonsense |
10/24 |
- |
1 |
11-62398583-A-G |
c.1069T>C |
p.S357P |
Missense |
10/24 |
- |
1 |
11-62398591-C-G |
c.1061G>C |
p.R354P |
Missense |
10/24 |
- |
1 |
11-62398591-C-T |
c.1061G>A |
p.R354H |
Missense |
10/24 |
- |
1 |
11-62398592-G-A |
c.1060C>T |
p.R354C |
Missense |
10/24 |
- |
1 |
11-62398595-C-T |
c.1057G>A |
p.V353I |
Missense |
10/24 |
- |
3 |
11-62398601-T-C |
c.1051A>G |
p.T351A |
Missense |
10/24 |
- |
2 |
11-62398602-C-A |
c.1050G>T |
p.Q350H |
Missense |
10/24 |
- |
1 |
11-62398602-C-G |
c.1050G>C |
p.Q350H |
Missense |
10/24 |
- |
1 |
11-62398608-G-A |
c.1044C>T |
p.T348= |
Synonymous |
10/24 |
- |
1 |
11-62398610-T-C |
c.1042A>G |
p.T348A |
Missense |
10/24 |
- |
1 |
11-62398611-C-T |
c.1041G>A |
p.E347= |
Synonymous |
10/24 |
- |
1 |
11-62398613-C-T |
c.1039G>A |
p.E347K |
Missense |
10/24 |
- |
2 |
11-62398615-C-T |
c.1037G>A |
p.G346E |
Missense |
10/24 |
- |
1 |
11-62398616-C-T |
c.1036G>A |
p.G346R |
Missense |
10/24 |
- |
1 |
11-62398618-GA-CG |
c.1033_1034delinsCG |
p.S345R |
Missense |
10/24 |
- |
1 |
11-62398623-C-T |
c.1029G>A |
p.Q343= |
Synonymous |
10/24 |
- |
2 |
11-62398625-G-T |
c.1027C>A |
p.Q343K |
Missense |
10/24 |
- |
1 |
11-62398626-C-A |
c.1026G>T |
p.L342= |
Synonymous |
10/24 |
- |
3 |
11-62398626-C-G |
c.1026G>C |
p.L342= |
Synonymous |
10/24 |
- |
1 |
11-62398626-C-T |
c.1026G>A |
p.L342= |
Synonymous |
10/24 |
- |
1 |
11-62398628-G-A |
c.1024C>T |
p.L342= |
Synonymous |
10/24 |
- |
1 |
11-62398634-C-T |
c.1018G>A |
p.D340N |
Missense |
10/24 |
- |
1 |
11-62398637-T-G |
c.1015A>C |
p.M339L |
Missense |
10/24 |
- |
1 |
11-62398640-T-C |
c.1012A>G |
p.M338V |
Missense |
10/24 |
- |
3 |
11-62398768-C-T |
c.997-113G>A |
- |
IntronicSNV |
- |
9/23 |
4 |
11-62399375-T-A |
c.996+662A>T |
- |
IntronicSNV |
- |
9/23 |
1 |
11-62399375-T-C |
c.996+662A>G |
- |
IntronicSNV |
- |
9/23 |
1 |
11-62400016-T-C |
c.996+21A>G |
- |
IntronicSNV |
- |
9/23 |
2 |
11-62400039-TC-T |
c.993del |
p.K332Rfs*7 |
Frameshift |
9/24 |
- |
1 |
11-62400042-C-G |
c.991G>C |
p.G331R |
Missense |
9/24 |
- |
2 |
11-62400042-C-T |
c.991G>A |
p.G331R |
Missense |
9/24 |
- |
2 |
11-62400047-G-A |
c.986C>T |
p.T329I |
Missense |
9/24 |
- |
1 |
11-62400050-T-C |
c.983A>G |
p.N328S |
Missense |
9/24 |
- |
4 |
11-62400066-C-T |
c.967G>A |
p.V323I |
Missense |
9/24 |
- |
1 |
11-62400070-GG-CA |
c.962_963delinsTG |
p.T321M |
Missense |
9/24 |
- |
2 |
11-62400078-C-T |
c.955G>A |
p.A319T |
Missense |
9/24 |
- |
1 |
11-62400085-G-A |
c.948C>T |
p.L316= |
Synonymous |
9/24 |
- |
1 |
11-62400085-G-C |
c.948C>G |
p.L316= |
Synonymous |
9/24 |
- |
1 |
11-62400085-G-T |
c.948C>A |
p.L316= |
Synonymous |
9/24 |
- |
1 |
11-62400100-C-T |
c.933G>A |
p.L311= |
Synonymous |
9/24 |
- |
1 |
11-62400102-A-G |
c.931T>C |
p.L311= |
Synonymous |
9/24 |
- |
1 |
11-62400104-T-C |
c.929A>G |
p.D310G |
Missense |
9/24 |
- |
2 |
11-62400106-G-A |
c.927C>T |
p.R309= |
Synonymous |
9/24 |
- |
4 |
11-62400106-G-C |
c.927C>G |
p.R309= |
Synonymous |
9/24 |
- |
2 |
11-62400106-G-T |
c.927C>A |
p.R309= |
Synonymous |
9/24 |
- |
2 |
11-62400107-C-T |
c.926G>A |
p.R309H |
Missense |
9/24 |
- |
2 |
11-62400108-G-A |
c.925C>T |
p.R309C |
Missense |
9/24 |
- |
10 |
11-62400108-G-T |
c.925C>A |
p.R309S |
Missense |
9/24 |
- |
4 |
11-62400113-G-C |
c.920C>G |
p.P307R |
Missense |
9/24 |
- |
1 |
11-62400116-T-C |
c.917A>G |
p.N306S |
Missense |
9/24 |
- |
5 |
11-62400134-G-T |
c.899C>A |
p.P300H |
Missense |
9/24 |
- |
1 |
11-62400138-C-A |
c.895G>T |
p.V299L |
Missense |
9/24 |
- |
2 |
11-62400138-C-G |
c.895G>C |
p.V299L |
Missense |
9/24 |
- |
1 |
11-62400151-G-GTCAGTGACCTTCAGCCTCAGGTTGT |
c.881_882insACAACCTGAGGCTGAAGGTCACTGA |
p.L295Qfs*8 |
Frameshift |
9/24 |
- |
1 |
11-62400156-T-A |
c.877A>T |
p.M293L |
Missense |
9/24 |
- |
1 |
11-62400156-T-G |
c.877A>C |
p.M293L |
Missense |
9/24 |
- |
1 |
11-62400160-G-A |
c.873C>T |
p.N291= |
Synonymous |
9/24 |
- |
1 |
11-62400166-C-A |
c.867G>T |
p.L289= |
Synonymous |
9/24 |
- |
1 |
11-62400166-C-G |
c.867G>C |
p.L289= |
Synonymous |
9/24 |
- |
1 |
11-62400166-C-T |
c.867G>A |
p.L289= |
Synonymous |
9/24 |
- |
1 |
11-62400168-G-A |
c.865C>T |
p.L289= |
Synonymous |
9/24 |
- |
1 |
11-62400171-C-T |
c.862G>A |
p.E288K |
Missense |
9/24 |
- |
1 |
11-62400177-G-C |
c.856C>G |
p.Q286E |
Missense |
9/24 |
- |
1 |
11-62400183-C-A |
c.850G>T |
p.V284L |
Missense |
9/24 |
- |
1 |
11-62400183-C-G |
c.850G>C |
p.V284L |
Missense |
9/24 |
- |
1 |
11-62400186-C-T |
c.847G>A |
p.D283N |
Missense |
9/24 |
- |
1 |
11-62400196-G-A |
c.837C>T |
p.L279= |
Synonymous |
9/24 |
- |
1 |
11-62400199-G-C |
c.834C>G |
p.R278= |
Synonymous |
9/24 |
- |
1 |
11-62400200-C-G |
c.833G>C |
p.R278P |
Missense |
9/24 |
- |
4 |
11-62400201-G-A |
c.832C>T |
p.R278C |
Missense |
9/24 |
- |
1 |
11-62400203-T-G |
c.830A>C |
p.Y277S |
Missense |
9/24 |
- |
2 |
11-62400210-C-CA |
c.822_823insT |
p.E275* |
Nonsense |
9/24 |
- |
1 |
11-62400212-C-G |
c.821G>C |
p.G274A |
Missense |
9/24 |
- |
1 |
11-62400480-G-A |
c.812C>T |
p.T271I |
Missense |
8/24 |
- |
2 |
11-62400494-C-A |
c.798G>T |
p.L266= |
Synonymous |
8/24 |
- |
1 |
11-62400494-C-G |
c.798G>C |
p.L266= |
Synonymous |
8/24 |
- |
1 |
11-62400494-C-T |
c.798G>A |
p.L266= |
Synonymous |
8/24 |
- |
1 |
11-62400496-G-A |
c.796C>T |
p.L266= |
Synonymous |
8/24 |
- |
1 |
11-62400496-G-C |
c.796C>G |
p.L266V |
Missense |
8/24 |
- |
1 |
11-62400500-G-A |
c.792C>T |
p.D264= |
Synonymous |
8/24 |
- |
2 |
11-62400502-C-A |
c.790G>T |
p.D264Y |
Missense |
8/24 |
- |
1 |
11-62400510-T-G |
c.782A>C |
p.E261A |
Missense |
8/24 |
- |
1 |
11-62400511-C-A |
c.781G>T |
p.E261* |
Nonsense |
8/24 |
- |
1 |
11-62400511-C-G |
c.781G>C |
p.E261Q |
Missense |
8/24 |
- |
1 |
11-62400511-C-T |
c.781G>A |
p.E261K |
Missense |
8/24 |
- |
1 |
11-62400512-A-C |
c.780T>G |
p.P260= |
Synonymous |
8/24 |
- |
1 |
11-62400512-A-G |
c.780T>C |
p.P260= |
Synonymous |
8/24 |
- |
1 |
11-62400512-AG-TT |
c.779_780delinsAA |
p.P260Q |
Missense |
8/24 |
- |
1 |
11-62400512-A-T |
c.780T>A |
p.P260= |
Synonymous |
8/24 |
- |
1 |
11-62400513-G-A |
c.779C>T |
p.P260L |
Missense |
8/24 |
- |
1 |
11-62400514-G-A |
c.778C>T |
p.P260S |
Missense |
8/24 |
- |
3 |
11-62400526-C-T |
c.766G>A |
p.V256I |
Missense |
8/24 |
- |
1 |
11-62400528-T-C |
c.764A>G |
p.H255R |
Missense |
8/24 |
- |
1 |
11-62400530-C-A |
c.762G>T |
p.E254D |
Missense |
8/24 |
- |
1 |
11-62400531-T-A |
c.761A>T |
p.E254V |
Missense |
8/24 |
- |
1 |
11-62400531-T-G |
c.761A>C |
p.E254A |
Missense |
8/24 |
- |
1 |
11-62400535-T-C |
c.757A>G |
p.M253V |
Missense |
8/24 |
- |
1 |
11-62400542-C-A |
c.750G>T |
p.L250= |
Synonymous |
8/24 |
- |
1 |
11-62400542-C-G |
c.750G>C |
p.L250= |
Synonymous |
8/24 |
- |
1 |
11-62400542-C-T |
c.750G>A |
p.L250= |
Synonymous |
8/24 |
- |
1 |
11-62400544-G-A |
c.748C>T |
p.L250= |
Synonymous |
8/24 |
- |
1 |
11-62400546-G-A |
c.746C>T |
p.S249F |
Missense |
8/24 |
- |
5 |
11-62400546-G-C |
c.746C>G |
p.S249C |
Missense |
8/24 |
- |
3 |
11-62400547-A-G |
c.745T>C |
p.S249P |
Missense |
8/24 |
- |
1 |
11-62400548-G-C |
c.744C>G |
p.F248L |
Missense |
8/24 |
- |
1 |
11-62400548-G-T |
c.744C>A |
p.F248L |
Missense |
8/24 |
- |
1 |
11-62400550-A-G |
c.742T>C |
p.F248L |
Missense |
8/24 |
- |
1 |
11-62400552-T-A |
c.740A>T |
p.D247V |
Missense |
8/24 |
- |
1 |
11-62400552-T-G |
c.740A>C |
p.D247A |
Missense |
8/24 |
- |
1 |
11-62400553-C-T |
c.739G>A |
p.D247N |
Missense |
8/24 |
- |
1 |
11-62400560-CAC-GAT |
c.730_732delinsATC |
p.V244I |
Missense |
8/24 |
- |
1 |
11-62400570-G-C |
c.722C>G |
p.P241R |
Missense |
8/24 |
- |
1 |
11-62400573-C-G |
c.719G>C |
p.G240A |
Missense |
8/24 |
- |
1 |
11-62400573-C-T |
c.719G>A |
p.G240D |
Missense |
8/24 |
- |
1 |
11-62400656-C-T |
c.718G>A |
p.G240S |
Missense |
7/24 |
- |
1 |
11-62400660-C-T |
c.714G>A |
p.P238= |
Synonymous |
7/24 |
- |
1 |
11-62400665-T-G |
c.709A>C |
p.K237Q |
Missense |
7/24 |
- |
1 |
11-62400673-G-A |
c.701C>T |
p.S234F |
Missense |
7/24 |
- |
1 |
11-62400673-G-C |
c.701C>G |
p.S234C |
Missense |
7/24 |
- |
1 |
11-62400675-G-C |
c.699C>G |
p.H233Q |
Missense |
7/24 |
- |
1 |
11-62400675-G-T |
c.699C>A |
p.H233Q |
Missense |
7/24 |
- |
1 |
11-62400676-T-C |
c.698A>G |
p.H233R |
Missense |
7/24 |
- |
1 |
11-62400678-A-C |
c.696T>G |
p.T232= |
Synonymous |
7/24 |
- |
1 |
11-62400678-A-G |
c.696T>C |
p.T232= |
Synonymous |
7/24 |
- |
1 |
11-62400678-A-T |
c.696T>A |
p.T232= |
Synonymous |
7/24 |
- |
1 |
11-62400679-G-C |
c.695C>G |
p.T232S |
Missense |
7/24 |
- |
1 |
11-62400679-GT-CA |
c.694_695delinsTG |
p.T232C |
Missense |
7/24 |
- |
1 |
11-62400680-T-A |
c.694A>T |
p.T232S |
Missense |
7/24 |
- |
1 |
11-62400682-T-C |
c.692A>G |
p.K231R |
Missense |
7/24 |
- |
1 |
11-62400683-T-G |
c.691A>C |
p.K231Q |
Missense |
7/24 |
- |
1 |
11-62400686-A-G |
c.688T>C |
p.F230L |
Missense |
7/24 |
- |
1 |
11-62400690-C-A |
c.684G>T |
p.E228D |
Missense |
7/24 |
- |
1 |
11-62400695-C-G |
c.679G>C |
p.E227Q |
Missense |
7/24 |
- |
1 |
11-62400696-C-G |
c.678G>C |
p.W226C |
Missense |
7/24 |
- |
1 |
11-62400701-C-A |
c.673G>T |
p.A225S |
Missense |
7/24 |
- |
1 |
11-62400707-G-A |
c.667C>T |
p.P223S |
Missense |
7/24 |
- |
1 |
11-62400710-C-A |
c.664G>T |
p.E222* |
Nonsense |
7/24 |
- |
1 |
11-62400710-C-T |
c.664G>A |
p.E222K |
Missense |
7/24 |
- |
1 |
11-62400721-G-T |
c.653C>A |
p.A218E |
Missense |
7/24 |
- |
1 |
11-62400724-T-C |
c.650A>G |
p.K217R |
Missense |
7/24 |
- |
1 |
11-62400735-C-T |
c.639G>A |
p.E213= |
Synonymous |
7/24 |
- |
2 |
11-62400737-C-T |
c.637G>A |
p.E213K |
Missense |
7/24 |
- |
1 |
11-62400740-C-G |
c.634G>C |
p.E212Q |
Missense |
7/24 |
- |
1 |
11-62400740-C-T |
c.634G>A |
p.E212K |
Missense |
7/24 |
- |
2 |
11-62400742-G-A |
c.632C>T |
p.P211L |
Missense |
7/24 |
- |
1 |
11-62400743-G-A |
c.631C>T |
p.P211S |
Missense |
7/24 |
- |
1 |
11-62400746-G-A |
c.631-3C>T |
- |
IntronicSNV |
- |
6/23 |
1 |
11-62400922-C-A |
c.625G>T |
p.D209Y |
Missense |
6/24 |
- |
1 |
11-62400923-CG-C |
c.624del |
p.D209Tfs*58 |
Frameshift |
6/24 |
- |
1 |
11-62400923-G-A |
c.624C>T |
p.G208= |
Synonymous |
6/24 |
- |
1 |
11-62400924-C-T |
c.623G>A |
p.G208D |
Missense |
6/24 |
- |
1 |
11-62400930-C-T |
c.617G>A |
p.R206K |
Missense |
6/24 |
- |
1 |
11-62400934-G-A |
c.613C>T |
p.P205S |
Missense |
6/24 |
- |
2 |
11-62400934-G-T |
c.613C>A |
p.P205T |
Missense |
6/24 |
- |
1 |
11-62400939-T-A |
c.608A>T |
p.E203V |
Missense |
6/24 |
- |
1 |
11-62400939-T-C |
c.608A>G |
p.E203G |
Missense |
6/24 |
- |
1 |
11-62400941-C-A |
c.606G>T |
p.E202D |
Missense |
6/24 |
- |
1 |
11-62400941-C-G |
c.606G>C |
p.E202D |
Missense |
6/24 |
- |
1 |
11-62400942-T-A |
c.605A>T |
p.E202V |
Missense |
6/24 |
- |
2 |
11-62400944-A-C |
c.603T>G |
p.P201= |
Synonymous |
6/24 |
- |
1 |
11-62400944-A-G |
c.603T>C |
p.P201= |
Synonymous |
6/24 |
- |
1 |
11-62400944-A-T |
c.603T>A |
p.P201= |
Synonymous |
6/24 |
- |
1 |
11-62400947-C-G |
c.600G>C |
p.Q200H |
Missense |
6/24 |
- |
1 |
11-62400949-G-A |
c.598C>T |
p.Q200* |
Nonsense |
6/24 |
- |
1 |
11-62400950-G-A |
c.597C>T |
p.A199= |
Synonymous |
6/24 |
- |
1 |
11-62400951-G-A |
c.596C>T |
p.A199V |
Missense |
6/24 |
- |
1 |
11-62400952-C-G |
c.595G>C |
p.A199P |
Missense |
6/24 |
- |
4 |
11-62400952-C-T |
c.595G>A |
p.A199T |
Missense |
6/24 |
- |
1 |
11-62400953-CCC-GCT |
c.592_594delinsAGC |
p.G198S |
Missense |
6/24 |
- |
1 |
11-62400954-C-G |
c.593G>C |
p.G198A |
Missense |
6/24 |
- |
1 |
11-62400958-C-T |
c.589G>A |
p.D197N |
Missense |
6/24 |
- |
1 |
11-62400959-G-A |
c.588C>T |
p.G196= |
Synonymous |
6/24 |
- |
3 |
11-62400959-G-C |
c.588C>G |
p.G196= |
Synonymous |
6/24 |
- |
2 |
11-62400959-G-T |
c.588C>A |
p.G196= |
Synonymous |
6/24 |
- |
2 |
11-62400962-C-T |
c.585G>A |
p.E195= |
Synonymous |
6/24 |
- |
1 |
11-62400964-C-T |
c.583G>A |
p.E195K |
Missense |
6/24 |
- |
1 |
11-62400966-G-C |
c.581C>G |
p.A194G |
Missense |
6/24 |
- |
1 |
11-62400969-G-A |
c.578C>T |
p.P193L |
Missense |
6/24 |
- |
1 |
11-62400972-T-A |
c.575A>T |
p.D192V |
Missense |
6/24 |
- |
1 |
11-62400972-T-C |
c.575A>G |
p.D192G |
Missense |
6/24 |
- |
1 |
11-62400974-T-A |
c.573A>T |
p.K191N |
Missense |
6/24 |
- |
1 |
11-62400975-T-C |
c.572A>G |
p.K191R |
Missense |
6/24 |
- |
1 |
11-62400977-TG-AA |
c.569_570delinsTT |
p.S190F |
Missense |
6/24 |
- |
1 |
11-62400978-G-A |
c.569C>T |
p.S190L |
Missense |
6/24 |
- |
1 |
11-62401620-C-G |
c.561-634G>C |
- |
IntronicSNV |
- |
5/23 |
7 |
11-62401620-C-T |
c.561-634G>A |
- |
IntronicSNV |
- |
5/23 |
7 |
11-62401716-A-G |
c.560+577T>C |
- |
IntronicSNV |
- |
5/23 |
9 |
11-62401803-T-A |
c.560+490A>T |
- |
IntronicSNV |
- |
5/23 |
1 |
11-62401830-T-C |
c.560+463A>G |
- |
IntronicSNV |
- |
5/23 |
1 |
11-62401830-T-G |
c.560+463A>C |
- |
IntronicSNV |
- |
5/23 |
1 |
11-62401842-G-A |
c.560+451C>T |
- |
IntronicSNV |
- |
5/23 |
1 |
11-62401846-A-C |
c.560+447T>G |
- |
IntronicSNV |
- |
5/23 |
1 |
11-62401876-G-C |
c.560+417C>G |
- |
IntronicSNV |
- |
5/23 |
1 |
11-62401876-G-T |
c.560+417C>A |
- |
IntronicSNV |
- |
5/23 |
1 |
11-62402291-A-G |
c.560+2T>C |
- |
IntronicSNV |
- |
5/23 |
1 |
11-62402293-G-A |
c.560C>T |
p.S187L |
Missense |
5/24 |
- |
2 |
11-62402295-G-A |
c.558C>T |
p.V186= |
Synonymous |
5/24 |
- |
1 |
11-62402303-G-A |
c.550C>T |
p.P184S |
Missense |
5/24 |
- |
2 |
11-62402303-G-T |
c.550C>A |
p.P184T |
Missense |
5/24 |
- |
1 |
11-62402309-T-A |
c.544A>T |
p.R182W |
Missense |
5/24 |
- |
1 |
11-62402313-A-ATCAGTGACCTTCAGCCTCAGGTTGT |
c.539_540insACAACCTGAGGCTGAAGGTCACTGA |
p.H180Qfs*9 |
Frameshift |
5/24 |
- |
1 |
11-62402314-T-C |
c.539A>G |
p.H180R |
Missense |
5/24 |
- |
4 |
11-62402315-G-C |
c.538C>G |
p.H180D |
Missense |
5/24 |
- |
1 |
11-62402318-C-G |
c.535G>C |
p.E179Q |
Missense |
5/24 |
- |
1 |
11-62402321-A-G |
c.532T>C |
p.F178L |
Missense |
5/24 |
- |
1 |
11-62402325-C-A |
c.528G>T |
p.L176F |
Missense |
5/24 |
- |
1 |
11-62402325-C-G |
c.528G>C |
p.L176F |
Missense |
5/24 |
- |
1 |
11-62402328-G-GTCAGTGACCTTCAGCCTCAGGTTGT |
c.524_525insACAACCTGAGGCTGAAGGTCACTGA |
p.L176Qfs*8 |
Frameshift |
5/24 |
- |
1 |
11-62402332-C-T |
c.521G>A |
p.G174E |
Missense |
5/24 |
- |
1 |
11-62402335-C-T |
c.518G>A |
p.R173Q |
Missense |
5/24 |
- |
6 |
11-62402336-G-A |
c.517C>T |
p.R173* |
Nonsense |
5/24 |
- |
1 |
11-62402339-C-T |
c.514G>A |
p.A172T |
Missense |
5/24 |
- |
3 |
11-62402341-T-C |
c.512A>G |
p.N171S |
Missense |
5/24 |
- |
6 |
11-62402342-T-C |
c.511A>G |
p.N171D |
Missense |
5/24 |
- |
1 |
11-62402345-C-T |
c.508G>A |
p.V170I |
Missense |
5/24 |
- |
1 |
11-62402350-AG-CT |
c.502_503inv |
p.L168S |
Missense |
5/24 |
- |
1 |
11-62402354-A-C |
c.499T>G |
p.L167V |
Missense |
5/24 |
- |
1 |
11-62402352-CA-C |
c.500del |
p.L167Cfs*100 |
Frameshift |
5/24 |
- |
1 |
11-62402358-A-G |
c.495T>C |
p.S165= |
Synonymous |
5/24 |
- |
1 |
11-62402358-A-T |
c.495T>A |
p.S165R |
Missense |
5/24 |
- |
2 |
11-62402362-C-A |
c.491G>T |
p.R164L |
Missense |
5/24 |
- |
1 |
11-62402362-C-T |
c.491G>A |
p.R164Q |
Missense |
5/24 |
- |
4 |
11-62402366-C-T |
c.487G>A |
p.D163N |
Missense |
5/24 |
- |
1 |
11-62402369-C-T |
c.484G>A |
p.E162K |
Missense |
5/24 |
- |
1 |
11-62402379-A-ATCAGTGACCTTCAGCCTCAGGTTGT |
c.473_474insACAACCTGAGGCTGAAGGTCACTGA |
p.D159Qfs*8 |
Frameshift |
5/24 |
- |
1 |
11-62402381-G-A |
c.472C>T |
p.L158F |
Missense |
5/24 |
- |
1 |
11-62402381-G-C |
c.472C>G |
p.L158V |
Missense |
5/24 |
- |
1 |
11-62402382-GCG-CCA |
c.469_471delinsTGG |
p.R157W |
Missense |
5/24 |
- |
2 |
11-62402384-G-A |
c.469C>T |
p.R157C |
Missense |
5/24 |
- |
3 |
11-62402389-G-A |
c.464C>T |
p.P155L |
Missense |
5/24 |
- |
1 |
11-62402392-C-A |
c.461G>T |
p.R154L |
Missense |
5/24 |
- |
2 |
11-62402392-C-T |
c.461G>A |
p.R154Q |
Missense |
5/24 |
- |
3 |
11-62402393-G-A |
c.460C>T |
p.R154W |
Missense |
5/24 |
- |
10 |
11-62402393-G-C |
c.460C>G |
p.R154G |
Missense |
5/24 |
- |
5 |
11-62402396-C-T |
c.457G>A |
p.A153T |
Missense |
5/24 |
- |
1 |
11-62402397-TGT-ACA |
c.454_456inv |
p.T152C |
Missense |
5/24 |
- |
1 |
11-62402398-G-A |
c.455C>T |
p.T152I |
Missense |
5/24 |
- |
1 |
11-62402407-A-G |
c.446T>C |
p.I149T |
Missense |
5/24 |
- |
1 |
11-62402408-T-A |
c.445A>T |
p.I149F |
Missense |
5/24 |
- |
1 |
11-62402409-TC-T |
c.444del |
p.I149Sfs*3 |
Frameshift |
5/24 |
- |
1 |
11-62402412-TG-T |
c.441del |
p.Y147* |
Frameshift |
5/24 |
- |
1 |
11-62402414-TAGGG-T |
c.436_439del |
p.P146Tfs*5 |
Frameshift |
5/24 |
- |
1 |
11-62402416-G-A |
c.437C>T |
p.P146L |
Missense |
5/24 |
- |
1 |
11-62402421-C-G |
c.432G>C |
p.E144D |
Missense |
5/24 |
- |
1 |
11-62402423-C-G |
c.430G>C |
p.E144Q |
Missense |
5/24 |
- |
1 |
11-62402423-C-T |
c.430G>A |
p.E144K |
Missense |
5/24 |
- |
1 |
11-62402424-A-C |
c.429T>G |
p.A143= |
Synonymous |
5/24 |
- |
1 |
11-62402424-A-G |
c.429T>C |
p.A143= |
Synonymous |
5/24 |
- |
2 |
11-62402424-A-T |
c.429T>A |
p.A143= |
Synonymous |
5/24 |
- |
1 |
11-62402425-G-A |
c.428C>T |
p.A143V |
Missense |
5/24 |
- |
2 |
11-62402425-G-C |
c.428C>G |
p.A143G |
Missense |
5/24 |
- |
1 |
11-62402426-C-T |
c.427G>A |
p.A143T |
Missense |
5/24 |
- |
1 |
11-62402440-A-G |
c.413T>C |
p.V138A |
Missense |
5/24 |
- |
1 |
11-62402441-C-T |
c.412G>A |
p.V138M |
Missense |
5/24 |
- |
1 |
11-62402444-T-G |
c.409A>C |
p.S137R |
Missense |
5/24 |
- |
1 |
11-62402444-T-A |
c.409A>T |
p.S137C |
Missense |
5/24 |
- |
4 |
11-62402453-C-T |
c.400G>A |
p.D134N |
Missense |
5/24 |
- |
5 |
11-62402455-C-T |
c.398G>A |
p.R133H |
Missense |
5/24 |
- |
2 |
11-62402456-G-A |
c.397C>T |
p.R133C |
Missense |
5/24 |
- |
4 |
11-62402456-G-C |
c.397C>G |
p.R133G |
Missense |
5/24 |
- |
1 |
11-62402456-G-T |
c.397C>A |
p.R133S |
Missense |
5/24 |
- |
1 |
11-62402460-A-T |
c.393T>A |
p.S131= |
Synonymous |
5/24 |
- |
1 |
11-62402461-G-C |
c.392C>G |
p.S131C |
Missense |
5/24 |
- |
2 |
11-62402465-C-A |
c.388G>T |
p.V130F |
Missense |
5/24 |
- |
6 |
11-62402465-C-G |
c.388G>C |
p.V130L |
Missense |
5/24 |
- |
1 |
11-62402467-G-C |
c.386C>G |
p.S129C |
Missense |
5/24 |
- |
1 |
11-62402468-A-G |
c.385T>C |
p.S129P |
Missense |
5/24 |
- |
1 |
11-62402471-G-A |
c.382C>T |
p.L128F |
Missense |
5/24 |
- |
1 |
11-62402472-C-T |
c.381G>A |
p.R127= |
Synonymous |
5/24 |
- |
1 |
11-62405761-G-A |
c.380+694C>T |
- |
IntronicSNV |
- |
4/23 |
1 |
11-62406099-G-C |
c.380+356C>G |
- |
IntronicSNV |
- |
4/23 |
1 |
11-62406162-G-A |
c.380+293C>T |
- |
IntronicSNV |
- |
4/23 |
2 |
11-62406162-G-T |
c.380+293C>A |
- |
IntronicSNV |
- |
4/23 |
3 |
11-62406440-T-C |
c.380+15A>G |
- |
IntronicSNV |
- |
4/23 |
1 |
11-62406453-A-G |
c.380+2T>C |
- |
IntronicSNV |
- |
4/23 |
1 |
11-62406456-G-A |
c.379C>T |
p.R127W |
Missense |
4/24 |
- |
1 |
11-62406456-G-T |
c.379C>A |
p.R127= |
Synonymous |
4/24 |
- |
1 |
11-62406461-AT-GC |
c.373_374delinsGC |
p.I125A |
Missense |
4/24 |
- |
1 |
11-62406468-G-C |
c.367C>G |
p.P123A |
Missense |
4/24 |
- |
8 |
11-62406469-A-T |
c.366T>A |
p.D122E |
Missense |
4/24 |
- |
1 |
11-62406471-C-T |
c.364G>A |
p.D122N |
Missense |
4/24 |
- |
2 |
11-62406474-C-A |
c.361G>T |
p.A121S |
Missense |
4/24 |
- |
1 |
11-62406477-C-G |
c.358G>C |
p.V120L |
Missense |
4/24 |
- |
1 |
11-62406479-A-G |
c.356T>C |
p.L119S |
Missense |
4/24 |
- |
2 |
11-62406480-A-G |
c.355T>C |
p.L119= |
Synonymous |
4/24 |
- |
1 |
11-62406486-C-T |
c.349G>A |
p.D117N |
Missense |
4/24 |
- |
4 |
11-62406488-G-A |
c.347C>T |
p.P116L |
Missense |
4/24 |
- |
1 |
11-62406490-GT-G |
c.345del |
p.P116Qfs*10 |
Frameshift |
4/24 |
- |
1 |
11-62406491-A-G |
c.344T>C |
p.V115A |
Missense |
4/24 |
- |
2 |
11-62406494-C-G |
c.341G>C |
p.R114P |
Missense |
4/24 |
- |
1 |
11-62406494-C-T |
c.341G>A |
p.R114H |
Missense |
4/24 |
- |
1 |
11-62406495-G-A |
c.340C>T |
p.R114C |
Missense |
4/24 |
- |
2 |
11-62406495-G-T |
c.340C>A |
p.R114S |
Missense |
4/24 |
- |
1 |
11-62406500-C-T |
c.335G>A |
p.R112Q |
Missense |
4/24 |
- |
2 |
11-62406501-G-A |
c.334C>T |
p.R112* |
Nonsense |
4/24 |
- |
2 |
11-62406503-G-C |
c.332C>G |
p.P111R |
Missense |
4/24 |
- |
2 |
11-62406506-C-T |
c.329G>A |
p.R110Q |
Missense |
4/24 |
- |
1 |
11-62406507-G-A |
c.328C>T |
p.R110* |
Nonsense |
4/24 |
- |
2 |
11-62406509-C-G |
c.326G>C |
p.R109P |
Missense |
4/24 |
- |
1 |
11-62406509-C-T |
c.326G>A |
p.R109Q |
Missense |
4/24 |
- |
2 |
11-62406512-G-A |
c.323C>T |
p.P108L |
Missense |
4/24 |
- |
6 |
11-62406512-G-C |
c.323C>G |
p.P108R |
Missense |
4/24 |
- |
2 |
11-62406513-G-T |
c.322C>A |
p.P108T |
Missense |
4/24 |
- |
1 |
11-62406516-C-A |
c.319G>T |
p.E107* |
Nonsense |
4/24 |
- |
1 |
11-62406520-C-A |
c.315G>T |
p.E105D |
Missense |
4/24 |
- |
1 |
11-62406520-C-G |
c.315G>C |
p.E105D |
Missense |
4/24 |
- |
1 |
11-62406522-C-A |
c.313G>T |
p.E105* |
Nonsense |
4/24 |
- |
1 |
11-62406522-C-T |
c.313G>A |
p.E105K |
Missense |
4/24 |
- |
1 |
11-62406526-A-C |
c.309T>G |
p.I103M |
Missense |
4/24 |
- |
1 |
11-62406527-A-G |
c.308T>C |
p.I103T |
Missense |
4/24 |
- |
1 |
11-62406529-CCT-ATG |
c.304_306delinsCAT |
p.R102H |
Missense |
4/24 |
- |
1 |
11-62406530-C-G |
c.305G>C |
p.R102T |
Missense |
4/24 |
- |
1 |
11-62406530-CT-GG |
c.304_305delinsCC |
p.R102P |
Missense |
4/24 |
- |
1 |
11-62406530-CT-TA |
c.304_305delinsTA |
p.R102* |
Nonsense |
4/24 |
- |
1 |
11-62406531-T-A |
c.304A>T |
p.R102W |
Missense |
4/24 |
- |
2 |
11-62406531-T-C |
c.304A>G |
p.R102G |
Missense |
4/24 |
- |
1 |
11-62406536-CG-TC |
c.298_299delinsGA |
p.R100E |
Missense |
4/24 |
- |
1 |
11-62406536-C-T |
c.299G>A |
p.R100Q |
Missense |
4/24 |
- |
2 |
11-62406537-G-A |
c.298C>T |
p.R100W |
Missense |
4/24 |
- |
1 |
11-62406540-T-C |
c.295A>G |
p.T99A |
Missense |
4/24 |
- |
1 |
11-62406541-C-A |
c.294G>T |
p.M98I |
Missense |
4/24 |
- |
1 |
11-62406541-C-G |
c.294G>C |
p.M98I |
Missense |
4/24 |
- |
1 |
11-62406541-C-T |
c.294G>A |
p.M98I |
Missense |
4/24 |
- |
1 |
11-62406543-T-C |
c.292A>G |
p.M98V |
Missense |
4/24 |
- |
1 |
11-62406546-T-G |
c.289A>C |
p.N97H |
Missense |
4/24 |
- |
1 |
11-62406547-C-A |
c.288G>T |
p.K96N |
Missense |
4/24 |
- |
1 |
11-62406547-C-G |
c.288G>C |
p.K96N |
Missense |
4/24 |
- |
1 |
11-62406551-T-C |
c.284A>G |
p.Q95R |
Missense |
4/24 |
- |
2 |
11-62406553-AAG-CAT |
c.280_282delinsATG |
p.L94M |
Missense |
4/24 |
- |
1 |
11-62406555-G-A |
c.280C>T |
p.L94F |
Missense |
4/24 |
- |
1 |
11-62406556-C-A |
c.279G>T |
p.G93= |
Synonymous |
4/24 |
- |
1 |
11-62406556-C-G |
c.279G>C |
p.G93= |
Synonymous |
4/24 |
- |
1 |
11-62406556-C-T |
c.279G>A |
p.G93= |
Synonymous |
4/24 |
- |
1 |
11-62406564-G-A |
c.271C>T |
p.L91F |
Missense |
4/24 |
- |
1 |
11-62406565-C-T |
c.270G>A |
p.E90= |
Synonymous |
4/24 |
- |
2 |
11-62406573-C-T |
c.262G>A |
p.V88M |
Missense |
4/24 |
- |
1 |
11-62406579-A-G |
c.256T>C |
p.L86= |
Synonymous |
4/24 |
- |
1 |
11-62406581-A-C |
c.254T>G |
p.V85G |
Missense |
4/24 |
- |
1 |
11-62406679-G-A |
c.253-97C>T |
- |
IntronicSNV |
- |
3/23 |
1 |
11-62406708-T-C |
c.252+123A>G |
- |
IntronicSNV |
- |
3/23 |
1 |
11-62406811-T-A |
c.252+20A>T |
- |
IntronicSNV |
- |
3/23 |
1 |
11-62406829-A-G |
c.252+2T>C |
- |
IntronicSNV |
- |
3/23 |
2 |
11-62406839-C-T |
c.244G>A |
p.V82I |
Missense |
3/24 |
- |
1 |
11-62406843-A-C |
c.240T>G |
p.H80Q |
Missense |
3/24 |
- |
2 |
11-62406843-A-T |
c.240T>A |
p.H80Q |
Missense |
3/24 |
- |
2 |
11-62406848-T-C |
c.235A>G |
p.I79V |
Missense |
3/24 |
- |
1 |
11-62406850-A-T |
c.233T>A |
p.L78Q |
Missense |
3/24 |
- |
1 |
11-62406853-T-G |
c.230A>C |
p.H77P |
Missense |
3/24 |
- |
2 |
11-62406858-C-T |
c.225G>A |
p.T75= |
Synonymous |
3/24 |
- |
1 |
11-62406859-G-C |
c.224C>G |
p.T75R |
Missense |
3/24 |
- |
1 |
11-62406860-T-C |
c.223A>G |
p.T75A |
Missense |
3/24 |
- |
1 |
11-62406864-G-A |
c.219C>T |
p.S73= |
Synonymous |
3/24 |
- |
1 |
11-62406864-G-C |
c.219C>G |
p.S73= |
Synonymous |
3/24 |
- |
1 |
11-62406864-G-T |
c.219C>A |
p.S73= |
Synonymous |
3/24 |
- |
1 |
11-62406865-G-A |
c.218C>T |
p.S73F |
Missense |
3/24 |
- |
2 |
11-62406876-A-C |
c.207T>G |
p.L69= |
Synonymous |
3/24 |
- |
1 |
11-62406876-A-G |
c.207T>C |
p.L69= |
Synonymous |
3/24 |
- |
1 |
11-62406876-A-T |
c.207T>A |
p.L69= |
Synonymous |
3/24 |
- |
1 |
11-62406878-G-C |
c.205C>G |
p.L69V |
Missense |
3/24 |
- |
2 |
11-62406879-C-G |
c.204G>C |
p.Q68H |
Missense |
3/24 |
- |
1 |
11-62406879-CTG-AAA |
c.202_204delinsTTT |
p.Q68F |
Missense |
3/24 |
- |
1 |
11-62406880-T-C |
c.203A>G |
p.Q68R |
Missense |
3/24 |
- |
2 |
11-62406884-G-C |
c.199C>G |
p.L67V |
Missense |
3/24 |
- |
2 |
11-62406886-GA-CG |
c.196_197delinsCG |
p.S66R |
Missense |
3/24 |
- |
1 |
11-62406891-C-T |
c.192G>A |
p.L64= |
Synonymous |
3/24 |
- |
1 |
11-62406894-C-A |
c.189G>T |
p.L63F |
Missense |
3/24 |
- |
1 |
11-62406898-G-A |
c.185C>T |
p.A62V |
Missense |
3/24 |
- |
1 |
11-62406901-C-T |
c.182G>A |
p.R61Q |
Missense |
3/24 |
- |
1 |
11-62406902-G-A |
c.181C>T |
p.R61* |
Nonsense |
3/24 |
- |
1 |
11-62406906-T-A |
c.177A>T |
p.P59= |
Synonymous |
3/24 |
- |
1 |
11-62406906-T-C |
c.177A>G |
p.P59= |
Synonymous |
3/24 |
- |
1 |
11-62406906-T-G |
c.177A>C |
p.P59= |
Synonymous |
3/24 |
- |
1 |
11-62406907-G-A |
c.176C>T |
p.P59L |
Missense |
3/24 |
- |
1 |
11-62406908-G-A |
c.175C>T |
p.P59S |
Missense |
3/24 |
- |
1 |
11-62406910-G-C |
c.173C>G |
p.S58C |
Missense |
3/24 |
- |
2 |
11-62406919-G-A |
c.164C>T |
p.P55L |
Missense |
3/24 |
- |
2 |
11-62406923-G-A |
c.160C>T |
p.R54W |
Missense |
3/24 |
- |
1 |
11-62406925-A-G |
c.158T>C |
p.I53T |
Missense |
3/24 |
- |
1 |
11-62406926-T-C |
c.157A>G |
p.I53V |
Missense |
3/24 |
- |
1 |
11-62406928-C-T |
c.155G>A |
p.S52N |
Missense |
3/24 |
- |
1 |
11-62406928-C-CTTAAG |
c.154_155insCTTAA |
p.S52Tfs*2 |
Frameshift |
3/24 |
- |
1 |
11-62406930-T-C |
c.153A>G |
p.R51= |
Synonymous |
3/24 |
- |
1 |
11-62406932-T-G |
c.151A>C |
p.R51= |
Synonymous |
3/24 |
- |
1 |
11-62406931-CT-TG |
c.151_152delinsCA |
p.R51Q |
Missense |
3/24 |
- |
1 |
11-62406932-T-TA |
c.150_151insT |
p.R51* |
Nonsense |
3/24 |
- |
1 |
11-62406929-TTC-T |
c.152_153del |
p.R51Kfs*21 |
Frameshift |
3/24 |
- |
1 |
11-62406933-C-A |
c.150G>T |
p.Q50H |
Missense |
3/24 |
- |
1 |
11-62406933-C-G |
c.150G>C |
p.Q50H |
Missense |
3/24 |
- |
1 |
11-62406937-C-T |
c.146G>A |
p.R49Q |
Missense |
3/24 |
- |
1 |
11-62406938-G-A |
c.145C>T |
p.R49* |
Nonsense |
3/24 |
- |
1 |
11-62406939-C-A |
c.144G>T |
p.K48N |
Missense |
3/24 |
- |
1 |
11-62406939-C-G |
c.144G>C |
p.K48N |
Missense |
3/24 |
- |
1 |
11-62407096-T-C |
c.143+3A>G |
- |
IntronicSNV |
- |
2/23 |
1 |
11-62407101-G-A |
c.141C>T |
p.C47= |
Synonymous |
2/24 |
- |
3 |
11-62407101-G-T |
c.141C>A |
p.C47* |
Nonsense |
2/24 |
- |
1 |
11-62407103-A-G |
c.139T>C |
p.C47R |
Missense |
2/24 |
- |
1 |
11-62407105-A-T |
c.137T>A |
p.F46Y |
Missense |
2/24 |
- |
3 |
11-62407108-G-T |
c.134C>A |
p.S45Y |
Missense |
2/24 |
- |
1 |
11-62407109-A-T |
c.133T>A |
p.S45T |
Missense |
2/24 |
- |
1 |
11-62407115-C-G |
c.127G>C |
p.E43Q |
Missense |
2/24 |
- |
1 |
11-62407120-C-T |
c.122G>A |
p.C41Y |
Missense |
2/24 |
- |
1 |
11-62407122-G-T |
c.120C>A |
p.T40= |
Synonymous |
2/24 |
- |
1 |
11-62407128-A-G |
c.114T>C |
p.F38= |
Synonymous |
2/24 |
- |
3 |
11-62407132-T-C |
c.110A>G |
p.N37S |
Missense |
2/24 |
- |
1 |
11-62407135-C-T |
c.107G>A |
p.S36N |
Missense |
2/24 |
- |
2 |
11-62407136-T-C |
c.106A>G |
p.S36G |
Missense |
2/24 |
- |
1 |
11-62407141-T-A |
c.101A>T |
p.D34V |
Missense |
2/24 |
- |
1 |
11-62407142-C-T |
c.100G>A |
p.D34N |
Missense |
2/24 |
- |
1 |
11-62407145-C-A |
c.97G>T |
p.V33L |
Missense |
2/24 |
- |
1 |
11-62407146-A-C |
c.96T>G |
p.A32= |
Synonymous |
2/24 |
- |
1 |
11-62407146-A-G |
c.96T>C |
p.A32= |
Synonymous |
2/24 |
- |
1 |
11-62407146-A-T |
c.96T>A |
p.A32= |
Synonymous |
2/24 |
- |
1 |
11-62407147-G-A |
c.95C>T |
p.A32V |
Missense |
2/24 |
- |
1 |
11-62407147-G-C |
c.95C>G |
p.A32G |
Missense |
2/24 |
- |
1 |
11-62407147-GC-AT |
c.94_95delinsAT |
p.A32I |
Missense |
2/24 |
- |
1 |
11-62407147-GC-TT |
c.94_95delinsAA |
p.A32N |
Missense |
2/24 |
- |
1 |
11-62407152-GG-CA |
c.89_90delinsTG |
p.T30M |
Missense |
2/24 |
- |
1 |
11-62407156-A-G |
c.86T>C |
p.I29T |
Missense |
2/24 |
- |
3 |
11-62407156-A-T |
c.86T>A |
p.I29N |
Missense |
2/24 |
- |
1 |
11-62407157-T-C |
c.85A>G |
p.I29V |
Missense |
2/24 |
- |
1 |
11-62407159-C-T |
c.83G>A |
p.G28E |
Missense |
2/24 |
- |
2 |
11-62407163-G-A |
c.79C>T |
p.L27= |
Synonymous |
2/24 |
- |
1 |
11-62407169-C-T |
c.73G>A |
p.V25I |
Missense |
2/24 |
- |
1 |
11-62407171-C-T |
c.71G>A |
p.G24E |
Missense |
2/24 |
- |
1 |
11-62407174-AA-GC |
c.67_68delinsGC |
p.L23A |
Missense |
2/24 |
- |
1 |
11-62407174-A-ATT |
c.67_68insAA |
p.L23* |
Nonsense |
2/24 |
- |
1 |
11-62407174-A-C |
c.68T>G |
p.L23* |
Nonsense |
2/24 |
- |
5 |
11-62407174-A-T |
c.68T>A |
p.L23* |
Nonsense |
2/24 |
- |
5 |
11-62407177-A-T |
c.65T>A |
p.F22Y |
Missense |
2/24 |
- |
1 |
11-62407173-TA-T |
c.68del |
p.L23* |
Frameshift |
2/24 |
- |
3 |
11-62407173-T-TA |
c.68dup |
p.L23Ffs*13 |
Frameshift |
2/24 |
- |
3 |
11-62407179-A-C |
c.63T>G |
p.A21= |
Synonymous |
2/24 |
- |
1 |
11-62407179-A-G |
c.63T>C |
p.A21= |
Synonymous |
2/24 |
- |
1 |
11-62407179-A-T |
c.63T>A |
p.A21= |
Synonymous |
2/24 |
- |
1 |
11-62407185-TA-GT |
c.56_57delinsAC |
p.V19D |
Missense |
2/24 |
- |
1 |
11-62407186-A-G |
c.56T>C |
p.V19A |
Missense |
2/24 |
- |
1 |
11-62407187-C-T |
c.55G>A |
p.V19I |
Missense |
2/24 |
- |
1 |
11-62407188-C-A |
c.54G>T |
p.L18F |
Missense |
2/24 |
- |
1 |
11-62407188-C-G |
c.54G>C |
p.L18F |
Missense |
2/24 |
- |
1 |
11-62407189-AA-GC |
c.52_53delinsGC |
p.L18A |
Missense |
2/24 |
- |
2 |
11-62407192-G-A |
c.50C>T |
p.S17F |
Missense |
2/24 |
- |
1 |
11-62407192-G-C |
c.50C>G |
p.S17C |
Missense |
2/24 |
- |
1 |
11-62407193-A-G |
c.49T>C |
p.S17P |
Missense |
2/24 |
- |
1 |
11-62407193-A-T |
c.49T>A |
p.S17T |
Missense |
2/24 |
- |
1 |
11-62407194-C-A |
c.48G>T |
p.A16= |
Synonymous |
2/24 |
- |
1 |
11-62407194-C-G |
c.48G>C |
p.A16= |
Synonymous |
2/24 |
- |
2 |
11-62407194-CG-GT |
c.47_48delinsAC |
p.A16D |
Missense |
2/24 |
- |
1 |
11-62407194-C-T |
c.48G>A |
p.A16= |
Synonymous |
2/24 |
- |
1 |
11-62407195-G-A |
c.47C>T |
p.A16V |
Missense |
2/24 |
- |
2 |
11-62407196-C-A |
c.46G>T |
p.A16S |
Missense |
2/24 |
- |
1 |
11-62407199-A-C |
c.43T>G |
p.W15G |
Missense |
2/24 |
- |
1 |
11-62407200-AG-CC |
c.41_42delinsGG |
p.S14W |
Missense |
2/24 |
- |
1 |
11-62407201-G-C |
c.41C>G |
p.S14C |
Missense |
2/24 |
- |
1 |
11-62407202-A-C |
c.40T>G |
p.S14A |
Missense |
2/24 |
- |
3 |
11-62407483-G-A |
c.39-280C>T |
- |
IntronicSNV |
- |
1/23 |
1 |
11-62412653-G-GC |
c.38+1380dup |
- |
IntronicInsertion |
- |
1/23 |
1 |
11-62413382-CT-C |
c.38+651del |
- |
IntronicDeletion |
- |
1/23 |
1 |
11-62413421-C-T |
c.38+613G>A |
- |
IntronicSNV |
- |
1/23 |
1 |
11-62413662-C-T |
c.38+372G>A |
- |
IntronicSNV |
- |
1/23 |
1 |
11-62413673-G-A |
c.38+361C>T |
- |
IntronicSNV |
- |
1/23 |
1 |
11-62413673-G-T |
c.38+361C>A |
- |
IntronicSNV |
- |
1/23 |
1 |
11-62413975-A-C |
c.38+59T>G |
- |
IntronicSNV |
- |
1/23 |
1 |
11-62414000-T-G |
c.38+34A>C |
- |
IntronicSNV |
- |
1/23 |
1 |
11-62414004-G-T |
c.38+30C>A |
- |
IntronicSNV |
- |
1/23 |
1 |
11-62414008-G-A |
c.38+26C>T |
- |
IntronicSNV |
- |
1/23 |
1 |
11-62414034-CG-TA |
c.37_38delinsTA |
p.R13* |
Nonsense |
1/24 |
- |
1 |
11-62414034-C-T |
c.38G>A |
p.R13Q |
Missense |
1/24 |
- |
1 |
11-62414039-CCT-ACA |
c.31_33delinsTGT |
p.R11C |
Missense |
1/24 |
- |
1 |
11-62414040-C-G |
c.32G>C |
p.R11T |
Missense |
1/24 |
- |
1 |
11-62414040-CT-TG |
c.31_32delinsCA |
p.R11Q |
Missense |
1/24 |
- |
2 |
11-62414041-T-A |
c.31A>T |
p.R11W |
Missense |
1/24 |
- |
1 |
11-62414043-C-A |
c.29G>T |
p.R10L |
Missense |
1/24 |
- |
1 |
11-62414047-C-G |
c.25G>C |
p.A9P |
Missense |
1/24 |
- |
1 |
11-62414047-C-T |
c.25G>A |
p.A9T |
Missense |
1/24 |
- |
1 |
11-62414049-G-C |
c.23C>G |
p.A8G |
Missense |
1/24 |
- |
1 |
11-62414052-A-C |
c.20T>G |
p.V7G |
Missense |
1/24 |
- |
3 |
11-62414052-A-T |
c.20T>A |
p.V7E |
Missense |
1/24 |
- |
1 |
11-62414053-C-A |
c.19G>T |
p.V7L |
Missense |
1/24 |
- |
2 |
11-62414053-C-G |
c.19G>C |
p.V7L |
Missense |
1/24 |
- |
2 |
11-62414053-C-T |
c.19G>A |
p.V7M |
Missense |
1/24 |
- |
2 |
11-62414058-G-A |
c.14C>T |
p.A5V |
Missense |
1/24 |
- |
1 |
11-62414059-C-T |
c.13G>A |
p.A5T |
Missense |
1/24 |
- |
1 |
11-62414055-GCCGCTA-G |
c.11_16del |
p.V4_A5del |
InFrameDeletion |
1/24 |
- |
2 |
11-62414061-A-C |
c.11T>G |
p.V4G |
Missense |
1/24 |
- |
1 |
11-62414063-C-T |
c.9G>A |
p.A3= |
Synonymous |
1/24 |
- |
1 |
11-62414065-C-G |
c.7G>C |
p.A3P |
Missense |
1/24 |
- |
1 |
11-62414067-G-T |
c.5C>A |
p.A2E |
Missense |
1/24 |
- |
1 |