PDE11A

PDE11A phosphodiesterase 11A

Annotation transcript: NM_016953.4

1518 unique variant annotations were identified in 696 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
2-178488281-C-G c.*5854G>C - 3-UTRSNV 20/20 - 4
2-178488499-A-AT c.*5635_*5636insA - 3-UTRInsertion 20/20 - 2
2-178489205-T-G c.*4930A>C - 3-UTRSNV 20/20 - 1
2-178489264-C-T c.*4871G>A - 3-UTRSNV 20/20 - 4
2-178489302-C-A c.*4833G>T - 3-UTRSNV 20/20 - 1
2-178489622-G-T c.*4513C>A - 3-UTRSNV 20/20 - 1
2-178491217-G-A c.*2918C>T - 3-UTRSNV 20/20 - 5
2-178491268-C-T c.*2867G>A - 3-UTRSNV 20/20 - 1
2-178491398-C-T c.*2737G>A - 3-UTRSNV 20/20 - 4
2-178491939-G-A c.*2196C>T - 3-UTRSNV 20/20 - 5
2-178491939-G-C c.*2196C>G - 3-UTRSNV 20/20 - 5
2-178491939-G-T c.*2196C>A - 3-UTRSNV 20/20 - 5
2-178492403-G-A c.*1732C>T - 3-UTRSNV 20/20 - 2
2-178492403-G-C c.*1732C>G - 3-UTRSNV 20/20 - 2
2-178492403-G-T c.*1732C>A - 3-UTRSNV 20/20 - 2
2-178492722-C-T c.*1413G>A - 3-UTRSNV 20/20 - 5
2-178492723-G-A c.*1412C>T - 3-UTRSNV 20/20 - 1
2-178492723-G-T c.*1412C>A - 3-UTRSNV 20/20 - 1
2-178492733-A-G c.*1402T>C - 3-UTRSNV 20/20 - 1
2-178492934-T-A c.*1201A>T - 3-UTRSNV 20/20 - 3
2-178492934-T-C c.*1201A>G - 3-UTRSNV 20/20 - 3
2-178493301-G-T c.*834C>A - 3-UTRSNV 20/20 - 5
2-178493713-A-G c.*422T>C - 3-UTRSNV 20/20 - 4
2-178493731-G-A c.*404C>T - 3-UTRSNV 20/20 - 4
2-178493770-C-T c.*365G>A - 3-UTRSNV 20/20 - 4
2-178494012-C-G c.*123G>C - 3-UTRSNV 20/20 - 9
2-178494141-C-T c.2796G>A p.R932= Synonymous 20/20 - 4
2-178494146-C-A c.2791G>T p.D931Y Missense 20/20 - 1
2-178494157-A-G c.2780T>C p.V927A Missense 20/20 - 1
2-178494158-C-T c.2779G>A p.V927I Missense 20/20 - 1
2-178494166-C-A c.2771G>T p.S924I Missense 20/20 - 1
2-178494166-C-T c.2771G>A p.S924N Missense 20/20 - 1
2-178494168-G-T c.2769C>A p.A923= Synonymous 20/20 - 1
2-178494171-A-C c.2766T>G p.P922= Synonymous 20/20 - 1
2-178494172-G-T c.2765C>A p.P922H Missense 20/20 - 1
2-178494171-A-AGGG c.2763_2765dup p.P922dup InFrameInsertion 20/20 - 1
2-178494173-G-A c.2764C>T p.P922S Missense 20/20 - 3
2-178494172-G-GGGA c.2764_2765insTCC p.S921_P922insL InFrameInsertion 20/20 - 4
2-178494173-G-GGCT c.2763_2764insAGC p.S921dup InFrameInsertion 20/20 - 1
2-178494171-A-AGGGGGG c.2765_2766insCCCCCC p.P922_A923insPP InFrameInsertion 20/20 - 1
2-178494174-G-GGAA c.2762_2763insTTC p.S921dup InFrameInsertion 20/20 - 3
2-178494174-G-GGAC c.2762_2763insGTC p.S921dup InFrameInsertion 20/20 - 2
2-178494173-G-GGGA c.2761_2763dup p.S921dup InFrameInsertion 20/20 - 23
2-178494176-A-AGGC c.2760_2761insGCC p.S920_S921insA InFrameInsertion 20/20 - 1
2-178494176-A-AGGG c.2760_2761insCCC p.S920_S921insP InFrameInsertion 20/20 - 2
2-178494178-GA-AT c.2758_2759delinsAT p.S920I Missense 20/20 - 1
2-178494178-G-GGGA c.2758_2759insTCC p.S920delinsFP MultiAAMissense 20/20 - 2
2-178494178-G-GAGA c.2758_2759insTCT p.S919_S920insF InFrameInsertion 20/20 - 3
2-178494178-G-GAGT c.2758_2759insACT p.S919_S920insY InFrameInsertion 20/20 - 1
2-178494179-A-AGGG c.2757_2758insCCC p.S919_S920insP InFrameInsertion 20/20 - 1
2-178494180-T-G c.2757A>C p.S919= Synonymous 20/20 - 2
2-178494184-G-T c.2753C>A p.A918D Missense 20/20 - 5
2-178494194-C-G c.2743G>C p.A915P Missense 20/20 - 1
2-178494195-CAG-AAA c.2740_2742delinsTTT p.L914F Missense 20/20 - 1
2-178494196-A-T c.2741T>A p.L914Q Missense 20/20 - 1
2-178494202-C-T c.2735G>A p.R912Q Missense 20/20 - 2
2-178494205-T-G c.2732A>C p.K911T Missense 20/20 - 3
2-178494209-G-A c.2728C>T p.Q910* Nonsense 20/20 - 3
2-178494209-G-T c.2728C>A p.Q910K Missense 20/20 - 1
2-178494216-C-A c.2721G>T p.E907D Missense 20/20 - 1
2-178494216-C-G c.2721G>C p.E907D Missense 20/20 - 2
2-178494221-C-T c.2716G>A p.E906K Missense 20/20 - 3
2-178494222-C-T c.2715G>A p.W905* Nonsense 20/20 - 2
2-178494223-C-T c.2714G>A p.W905* Nonsense 20/20 - 6
2-178494226-T-A c.2711A>T p.K904M Missense 20/20 - 2
2-178494229-CT-AG c.2707_2708inv p.S903L Missense 20/20 - 1
2-178494247-G-A c.2690C>T p.S897L Missense 20/20 - 5
2-178494254-G-T c.2683C>A p.L895I Missense 20/20 - 1
2-178494259-G-A c.2678C>T p.P893L Missense 20/20 - 1
2-178494266-G-C c.2671C>G p.L891V Missense 20/20 - 3
2-178494270-C-T c.2667G>A p.V889= Synonymous 20/20 - 3
2-178494272-C-T c.2665G>A p.V889M Missense 20/20 - 1
2-178494274-T-C c.2663A>G p.N888S Missense 20/20 - 1
2-178494281-T-A c.2656A>T p.K886* Nonsense 20/20 - 2
2-178494282-C-A c.2655G>T p.V885= Synonymous 20/20 - 1
2-178494282-C-G c.2655G>C p.V885= Synonymous 20/20 - 1
2-178494282-C-T c.2655G>A p.V885= Synonymous 20/20 - 1
2-178494520-A-G c.2647-230T>C - IntronicSNV - 19/19 2
2-178500799-G-A c.2647-6509C>T - IntronicSNV - 19/19 1
2-178503779-C-A c.2647-9489G>T - IntronicSNV - 19/19 1
2-178506438-C-G c.2647-12148G>C - IntronicSNV - 19/19 1
2-178506438-C-T c.2647-12148G>A - IntronicSNV - 19/19 1
2-178506883-G-T c.2647-12593C>A - IntronicSNV - 19/19 1
2-178512046-AT-A c.2646+16547del - IntronicDeletion - 19/19 1
2-178512355-T-C c.2646+16239A>G - IntronicSNV - 19/19 1
2-178513054-T-C c.2646+15540A>G - IntronicSNV - 19/19 1
2-178515362-A-AT c.2646+13231dup - IntronicInsertion - 19/19 1
2-178516354-CT-C c.2646+12239del - IntronicDeletion - 19/19 1
2-178520746-A-G c.2646+7848T>C - IntronicSNV - 19/19 3
2-178522665-C-T c.2646+5929G>A - IntronicSNV - 19/19 1
2-178528351-T-C c.2646+243A>G - IntronicSNV - 19/19 1
2-178528360-A-G c.2646+234T>C - IntronicSNV - 19/19 1
2-178528555-A-AT c.2646+38dup - IntronicInsertion - 19/19 1
2-178528592-A-C c.2646+2T>G - IntronicSNV - 19/19 1
2-178528600-C-A c.2640G>T p.L880F Missense 19/20 - 1
2-178528600-C-G c.2640G>C p.L880F Missense 19/20 - 1
2-178528604-G-A c.2636C>T p.P879L Missense 19/20 - 1
2-178528606-C-A c.2634G>T p.M878I Missense 19/20 - 1
2-178528606-C-G c.2634G>C p.M878I Missense 19/20 - 1
2-178528606-C-T c.2634G>A p.M878I Missense 19/20 - 1
2-178528608-T-C c.2632A>G p.M878V Missense 19/20 - 19
2-178528608-T-G c.2632A>C p.M878L Missense 19/20 - 2
2-178528609-G-C c.2631C>G p.C877W Missense 19/20 - 1
2-178528610-C-G c.2630G>C p.C877S Missense 19/20 - 1
2-178528611-A-T c.2629T>A p.C877S Missense 19/20 - 1
2-178528616-C-T c.2624G>A p.S875N Missense 19/20 - 3
2-178528622-A-G c.2618T>C p.I873T Missense 19/20 - 2
2-178528624-C-A c.2616G>T p.W872C Missense 19/20 - 2
2-178528629-C-A c.2611G>T p.E871* Nonsense 19/20 - 1
2-178528629-C-G c.2611G>C p.E871Q Missense 19/20 - 1
2-178528631-A-T c.2609T>A p.L870Q Missense 19/20 - 1
2-178528639-CC-AT c.2600_2601delinsAT p.R867H Missense 19/20 - 1
2-178528640-C-A c.2600G>T p.R867L Missense 19/20 - 1
2-178528641-G-A c.2599C>T p.R867W Missense 19/20 - 7
2-178528641-G-C c.2599C>G p.R867G Missense 19/20 - 26
2-178528643-G-A c.2597C>T p.P866L Missense 19/20 - 1
2-178528643-G-T c.2597C>A p.P866H Missense 19/20 - 1
2-178528649-T-C c.2591A>G p.E864G Missense 19/20 - 1
2-178528650-C-T c.2590G>A p.E864K Missense 19/20 - 2
2-178528653-C-T c.2587G>A p.D863N Missense 19/20 - 4
2-178528654-C-A c.2586G>T p.K862N Missense 19/20 - 1
2-178528654-C-G c.2586G>C p.K862N Missense 19/20 - 1
2-178528654-C-T c.2586G>A p.K862= Synonymous 19/20 - 1
2-178528657-C-T c.2583G>A p.R861= Synonymous 19/20 - 1
2-178528660-G-C c.2580C>G p.N860K Missense 19/20 - 4
2-178528660-G-T c.2580C>A p.N860K Missense 19/20 - 6
2-178528663-C-A c.2577G>T p.R859= Synonymous 19/20 - 1
2-178528664-C-T c.2576G>A p.R859Q Missense 19/20 - 1
2-178528665-G-A c.2575C>T p.R859W Missense 19/20 - 1
2-178528665-G-C c.2575C>G p.R859G Missense 19/20 - 1
2-178528676-G-T c.2564C>A p.A855E Missense 19/20 - 2
2-178528677-C-A c.2563G>T p.A855S Missense 19/20 - 1
2-178528703-C-T c.2563-26G>A - IntronicSNV - 18/19 9
2-178528789-G-A c.2563-112C>T - IntronicSNV - 18/19 4
2-178528834-A-G c.2563-157T>C - IntronicSNV - 18/19 2
2-178528874-T-A c.2563-197A>T - IntronicSNV - 18/19 3
2-178528874-T-C c.2563-197A>G - IntronicSNV - 18/19 3
2-178533284-A-G c.2562+937T>C - IntronicSNV - 18/19 1
2-178534110-G-T c.2562+111C>A - IntronicSNV - 18/19 4
2-178534148-C-T c.2562+73G>A - IntronicSNV - 18/19 1
2-178534222-G-GT c.2560_2561insA p.S854Yfs*5 SpliceDonorInsertion 18/20 - 1
2-178534225-G-A c.2558C>T p.P853L Missense 18/20 - 2
2-178534224-A-AG c.2558dup p.S854Ffs*5 Frameshift 18/20 - 1
2-178534228-AGTGAGTTTGAGCTCTAATCTCTCCCGATCTC-A c.2525_2555del p.G842Vfs*34 Frameshift 18/20 - 1
2-178534228-G-C c.2555C>G p.T852S Missense 18/20 - 2
2-178534229-T-A c.2554A>T p.T852S Missense 18/20 - 2
2-178534235-T-C c.2548A>G p.K850E Missense 18/20 - 1
2-178534241-C-G c.2542G>C p.E848Q Missense 18/20 - 3
2-178534241-C-T c.2542G>A p.E848K Missense 18/20 - 1
2-178534249-T-A c.2534A>T p.E845V Missense 18/20 - 2
2-178534250-C-A c.2533G>T p.E845* Nonsense 18/20 - 1
2-178534251-C-T c.2532G>A p.R844= Synonymous 18/20 - 3
2-178534252-C-A c.2531G>T p.R844L Missense 18/20 - 2
2-178534253-G-A c.2530C>T p.R844W Missense 18/20 - 5
2-178534256-C-T c.2527G>A p.D843N Missense 18/20 - 1
2-178534258-C-T c.2525G>A p.G842E Missense 18/20 - 1
2-178534260-T-C c.2523A>G p.Q841= Synonymous 18/20 - 1
2-178534262-G-C c.2521C>G p.Q841E Missense 18/20 - 1
2-178534265-C-A c.2518G>T p.E840* Nonsense 18/20 - 2
2-178534265-C-T c.2518G>A p.E840K Missense 18/20 - 3
2-178534270-A-G c.2513T>C p.F838S Missense 18/20 - 1
2-178534270-A-T c.2513T>A p.F838Y Missense 18/20 - 1
2-178534269-G-C c.2514C>G p.F838L Missense 18/20 - 1
2-178534269-G-T c.2514C>A p.F838L Missense 18/20 - 1
2-178534271-A-G c.2512T>C p.F838L Missense 18/20 - 1
2-178534282-A-G c.2501T>C p.V834A Missense 18/20 - 1
2-178534286-G-A c.2497C>T p.L833F Missense 18/20 - 1
2-178534292-C-A c.2491G>T p.A831S Missense 18/20 - 2
2-178534324-A-G c.2488-29T>C - IntronicSNV - 17/19 10
2-178534324-A-T c.2488-29T>A - IntronicSNV - 17/19 10
2-178534534-G-C c.2488-239C>G - IntronicSNV - 17/19 2
2-178535203-C-T c.2488-908G>A - IntronicSNV - 17/19 1
2-178537649-TTAGG-T c.2487+2530_2487+2533del - IntronicDeletion - 17/19 1
2-178538716-G-A c.2487+1467C>T - IntronicSNV - 17/19 1
2-178539583-A-G c.2487+600T>C - IntronicSNV - 17/19 1
2-178539990-T-A c.2487+193A>T - IntronicSNV - 17/19 1
2-178540023-G-A c.2487+160C>T - IntronicSNV - 17/19 2
2-178540135-G-C c.2487+48C>G - IntronicSNV - 17/19 1
2-178540152-C-G c.2487+31G>C - IntronicSNV - 17/19 1
2-178540185-G-T c.2485C>A p.Q829K Missense 17/20 - 1
2-178540202-G-A c.2468C>T p.P823L Missense 17/20 - 2
2-178540212-C-T c.2458G>A p.V820M Missense 17/20 - 7
2-178540213-G-A c.2457C>T p.A819= Synonymous 17/20 - 2
2-178540213-G-C c.2457C>G p.A819= Synonymous 17/20 - 1
2-178540213-G-T c.2457C>A p.A819= Synonymous 17/20 - 1
2-178540215-C-T c.2455G>A p.A819T Missense 17/20 - 1
2-178540222-G-T c.2448C>A p.D816E Missense 17/20 - 1
2-178540226-C-G c.2444G>C p.C815S Missense 17/20 - 1
2-178540236-T-C c.2434A>G p.M812V Missense 17/20 - 1
2-178540244-G-A c.2426C>T p.S809L Missense 17/20 - 2
2-178540293-A-G c.2424-47T>C - IntronicSNV - 16/19 8
2-178540804-A-C c.2424-558T>G - IntronicSNV - 16/19 4
2-178544417-T-A c.2423+1137A>T - IntronicSNV - 16/19 1
2-178544417-T-C c.2423+1137A>G - IntronicSNV - 16/19 1
2-178545403-T-A c.2423+151A>T - IntronicSNV - 16/19 2
2-178545403-T-C c.2423+151A>G - IntronicSNV - 16/19 3
2-178545403-T-G c.2423+151A>C - IntronicSNV - 16/19 2
2-178545554-C-T c.2423G>A p.R808Q Missense 16/20 - 1
2-178545555-G-A c.2422C>T p.R808* Nonsense 16/20 - 2
2-178545561-T-C c.2416A>G p.I806V Missense 16/20 - 1
2-178545563-T-C c.2414A>G p.D805G Missense 16/20 - 3
2-178545566-C-A c.2411G>T p.R804L Missense 16/20 - 1
2-178545566-C-G c.2411G>C p.R804P Missense 16/20 - 1
2-178545566-C-T c.2411G>A p.R804H Missense 16/20 - 33
2-178545567-G-C c.2410C>G p.R804G Missense 16/20 - 1
2-178545569-T-C c.2408A>G p.H803R Missense 16/20 - 1
2-178545569-T-TG c.2407dup p.H803Pfs*3 Frameshift 16/20 - 1
2-178545571-G-A c.2406C>T p.N802= Synonymous 16/20 - 2
2-178545571-G-C c.2406C>G p.N802K Missense 16/20 - 1
2-178545571-G-T c.2406C>A p.N802K Missense 16/20 - 2
2-178545572-T-C c.2405A>G p.N802S Missense 16/20 - 2
2-178545577-G-C c.2400C>G p.I800M Missense 16/20 - 2
2-178545579-T-G c.2398A>C p.I800L Missense 16/20 - 2
2-178545585-A-G c.2392T>C p.W798R Missense 16/20 - 1
2-178545588-C-T c.2389G>A p.D797N Missense 16/20 - 1
2-178545589-G-A c.2388C>T p.Y796= Synonymous 16/20 - 1
2-178545589-G-C c.2388C>G p.Y796* Nonsense 16/20 - 1
2-178545594-C-T c.2383G>A p.E795K Missense 16/20 - 1
2-178545602-C-T c.2375G>A p.S792N Missense 16/20 - 1
2-178545609-G-A c.2368C>T p.L790F Missense 16/20 - 1
2-178545621-C-G c.2356G>C p.E786Q Missense 16/20 - 1
2-178545622-A-G c.2355T>C p.T785= Synonymous 16/20 - 1
2-178545625-T-C c.2352A>G p.R784= Synonymous 16/20 - 1
2-178545627-T-G c.2350A>C p.R784= Synonymous 16/20 - 1
2-178545628-C-T c.2349G>A p.R783= Synonymous 16/20 - 1
2-178545629-C-T c.2348G>A p.R783K Missense 16/20 - 1
2-178545631-C-A c.2346G>T p.E782D Missense 16/20 - 3
2-178545631-C-G c.2346G>C p.E782D Missense 16/20 - 1
2-178545631-C-T c.2346G>A p.E782= Synonymous 16/20 - 1
2-178545713-C-G c.2346-82G>C - IntronicSNV - 15/19 4
2-178545713-C-T c.2346-82G>A - IntronicSNV - 15/19 4
2-178545736-T-C c.2346-105A>G - IntronicSNV - 15/19 1
2-178551958-G-A c.2346-6327C>T - IntronicSNV - 15/19 1
2-178555032-T-C c.2345+7028A>G - IntronicSNV - 15/19 5
2-178555501-A-G c.2345+6559T>C - IntronicSNV - 15/19 1
2-178556101-C-A c.2345+5959G>T - IntronicSNV - 15/19 1
2-178561865-T-A c.2345+195A>T - IntronicSNV - 15/19 1
2-178561865-T-C c.2345+195A>G - IntronicSNV - 15/19 2
2-178561947-G-C c.2345+113C>G - IntronicSNV - 15/19 2
2-178562032-G-T c.2345+28C>A - IntronicSNV - 15/19 2
2-178562060-T-C c.2345A>G p.E782G Missense 15/20 - 1
2-178562061-C-G c.2344G>C p.E782Q Missense 15/20 - 1
2-178562068-C-A c.2337G>T p.L779= Synonymous 15/20 - 1
2-178562068-C-G c.2337G>C p.L779= Synonymous 15/20 - 1
2-178562068-C-T c.2337G>A p.L779= Synonymous 15/20 - 1
2-178562070-G-A c.2335C>T p.L779= Synonymous 15/20 - 1
2-178562071-C-T c.2334G>A p.T778= Synonymous 15/20 - 3
2-178562072-G-A c.2333C>T p.T778M Missense 15/20 - 2
2-178562072-G-T c.2333C>A p.T778K Missense 15/20 - 2
2-178562087-A-G c.2318T>C p.L773S Missense 15/20 - 1
2-178562088-A-G c.2317T>C p.L773= Synonymous 15/20 - 1
2-178562092-T-A c.2313A>T p.S771= Synonymous 15/20 - 1
2-178562092-T-C c.2313A>G p.S771= Synonymous 15/20 - 1
2-178562092-T-G c.2313A>C p.S771= Synonymous 15/20 - 2
2-178562092-TG-AC c.2312_2313delinsGT p.S771C Missense 15/20 - 1
2-178562096-T-A c.2309A>T p.Q770L Missense 15/20 - 1
2-178562101-C-T c.2304G>A p.L768= Synonymous 15/20 - 1
2-178562103-A-G c.2302T>C p.L768= Synonymous 15/20 - 1
2-178562106-G-A c.2299C>T p.L767F Missense 15/20 - 1
2-178562114-A-G c.2291T>C p.L764P Missense 15/20 - 1
2-178562116-G-A c.2289C>T p.D763= Synonymous 15/20 - 1
2-178562123-T-C c.2282A>G p.Y761C Missense 15/20 - 1
2-178562127-C-T c.2278G>A p.E760K Missense 15/20 - 3
2-178562131-G-A c.2274C>T p.S758= Synonymous 15/20 - 1
2-178562131-G-C c.2274C>G p.S758= Synonymous 15/20 - 1
2-178562131-G-T c.2274C>A p.S758= Synonymous 15/20 - 1
2-178562132-GAGGAC-G c.2268_2272del p.S757Qfs*4 Frameshift 15/20 - 5
2-178562138-A-T c.2267T>A p.L756Q Missense 15/20 - 4
2-178562145-C-T c.2260G>A p.A754T Missense 15/20 - 1
2-178562149-G-A c.2256C>T p.I752= Synonymous 15/20 - 1
2-178562149-G-C c.2256C>G p.I752M Missense 15/20 - 1
2-178562149-G-T c.2256C>A p.I752= Synonymous 15/20 - 1
2-178562157-G-A c.2248C>T p.H750Y Missense 15/20 - 2
2-178562159-C-A c.2246G>T p.G749V Missense 15/20 - 1
2-178565775-A-G c.2244+74T>C - IntronicSNV - 14/19 2
2-178565791-G-A c.2244+58C>T - IntronicSNV - 14/19 1
2-178565807-T-A c.2244+42A>T - IntronicSNV - 14/19 1
2-178565815-T-C c.2244+34A>G - IntronicSNV - 14/19 11
2-178565851-C-T c.2242G>A p.E748K Missense 14/20 - 1
2-178565853-C-G c.2240G>C p.S747T Missense 14/20 - 1
2-178565854-T-A c.2239A>T p.S747C Missense 14/20 - 1
2-178565854-T-C c.2239A>G p.S747G Missense 14/20 - 3
2-178565869-C-T c.2224G>A p.V742M Missense 14/20 - 4
2-178565870-G-A c.2223C>T p.A741= Synonymous 14/20 - 2
2-178565870-G-C c.2223C>G p.A741= Synonymous 14/20 - 2
2-178565870-G-T c.2223C>A p.A741= Synonymous 14/20 - 2
2-178565871-G-A c.2222C>T p.A741V Missense 14/20 - 1
2-178565872-C-A c.2221G>T p.A741S Missense 14/20 - 2
2-178565875-G-C c.2218C>G p.H740D Missense 14/20 - 1
2-178565886-T-G c.2207A>C p.H736P Missense 14/20 - 1
2-178565890-G-T c.2203C>A p.H735N Missense 14/20 - 3
2-178565899-T-A c.2194A>T p.T732S Missense 14/20 - 1
2-178565903-A-C c.2190T>G p.S730= Synonymous 14/20 - 1
2-178565903-A-G c.2190T>C p.S730= Synonymous 14/20 - 1
2-178565903-A-T c.2190T>A p.S730= Synonymous 14/20 - 1
2-178565904-G-T c.2189C>A p.S730Y Missense 14/20 - 1
2-178565907-G-A c.2186C>T p.T729I Missense 14/20 - 1
2-178565910-C-A c.2183G>T p.G728V Missense 14/20 - 2
2-178565912-A-G c.2181T>C p.Y727= Synonymous 14/20 - 1
2-178565913-T-C c.2180A>G p.Y727C Missense 14/20 - 33
2-178565915-G-A c.2178C>T p.L726= Synonymous 14/20 - 1
2-178565915-G-C c.2178C>G p.L726= Synonymous 14/20 - 1
2-178565915-G-T c.2178C>A p.L726= Synonymous 14/20 - 1
2-178565918-T-C c.2175A>G p.Q725= Synonymous 14/20 - 2
2-178565920-G-A c.2173C>T p.Q725* Nonsense 14/20 - 1
2-178565924-C-G c.2169G>C p.L723= Synonymous 14/20 - 1
2-178565925-A-C c.2168T>G p.L723R Missense 14/20 - 1
2-178565927-G-A c.2166C>T p.A722= Synonymous 14/20 - 1
2-178565927-G-C c.2166C>G p.A722= Synonymous 14/20 - 1
2-178565927-G-T c.2166C>A p.A722= Synonymous 14/20 - 1
2-178565928-G-A c.2165C>T p.A722V Missense 14/20 - 8
2-178565928-G-T c.2165C>A p.A722D Missense 14/20 - 4
2-178565931-G-A c.2162C>T p.S721F Missense 14/20 - 1
2-178565933-G-A c.2160C>T p.G720= Synonymous 14/20 - 2
2-178565933-G-C c.2160C>G p.G720= Synonymous 14/20 - 1
2-178565933-G-T c.2160C>A p.G720= Synonymous 14/20 - 1
2-178565934-C-A c.2159G>T p.G720V Missense 14/20 - 1
2-178565934-C-G c.2159G>C p.G720A Missense 14/20 - 1
2-178565938-T-C c.2155A>G p.S719G Missense 14/20 - 1
2-178565939-C-T c.2154G>A p.K718= Synonymous 14/20 - 1
2-178565977-G-A c.2154-38C>T - IntronicSNV - 13/19 1
2-178567226-T-C c.2154-1287A>G - IntronicSNV - 13/19 1
2-178567449-T-C c.2154-1510A>G - IntronicSNV - 13/19 1
2-178567462-T-A c.2154-1523A>T - IntronicSNV - 13/19 1
2-178567462-T-C c.2154-1523A>G - IntronicSNV - 13/19 1
2-178567474-T-A c.2154-1535A>T - IntronicSNV - 13/19 1
2-178569074-G-T c.2154-3135C>A - IntronicSNV - 13/19 2
2-178573620-G-A c.2153+2877C>T - IntronicSNV - 13/19 1
2-178576052-T-C c.2153+445A>G - IntronicSNV - 13/19 1
2-178576372-G-A c.2153+125C>T - IntronicSNV - 13/19 1
2-178576496-C-T c.2153+1G>A - IntronicSNV - 13/19 1
2-178576510-C-A c.2140G>T p.A714S Missense 13/20 - 1
2-178576513-T-C c.2137A>G p.N713D Missense 13/20 - 1
2-178576523-C-T c.2127G>A p.R709= Synonymous 13/20 - 1
2-178576525-T-G c.2125A>C p.R709= Synonymous 13/20 - 1
2-178576524-C-A c.2126G>T p.R709M Missense 13/20 - 1
2-178576530-T-C c.2120A>G p.D707G Missense 13/20 - 1
2-178576532-G-A c.2118C>T p.L706= Synonymous 13/20 - 1
2-178576537-C-T c.2113G>A p.D705N Missense 13/20 - 2
2-178576540-G-A c.2110C>T p.H704Y Missense 13/20 - 4
2-178576547-G-T c.2103C>A p.C701* Nonsense 13/20 - 1
2-178576551-C-A c.2099G>T p.G700V Missense 13/20 - 1
2-178576557-A-G c.2093T>C p.I698T Missense 13/20 - 1
2-178576561-C-T c.2089G>A p.V697M Missense 13/20 - 2
2-178576562-C-A c.2088G>T p.A696= Synonymous 13/20 - 1
2-178576562-C-G c.2088G>C p.A696= Synonymous 13/20 - 1
2-178576562-C-T c.2088G>A p.A696= Synonymous 13/20 - 1
2-178576564-C-T c.2086G>A p.A696T Missense 13/20 - 2
2-178576565-T-C c.2085A>G p.L695= Synonymous 13/20 - 1
2-178576577-C-A c.2073G>T p.E691D Missense 13/20 - 2
2-178576577-C-G c.2073G>C p.E691D Missense 13/20 - 2
2-178576579-C-T c.2071G>A p.E691K Missense 13/20 - 1
2-178576580-G-A c.2070C>T p.T690= Synonymous 13/20 - 3
2-178576580-G-C c.2070C>G p.T690= Synonymous 13/20 - 1
2-178576580-G-T c.2070C>A p.T690= Synonymous 13/20 - 1
2-178576587-A-T c.2063T>A p.I688N Missense 13/20 - 3
2-178576589-G-C c.2061C>G p.D687E Missense 13/20 - 4
2-178576589-G-T c.2061C>A p.D687E Missense 13/20 - 1
2-178576592-T-C c.2058A>G p.Q686= Synonymous 13/20 - 2
2-178576594-G-C c.2056C>G p.Q686E Missense 13/20 - 2
2-178576598-C-T c.2052G>A p.G684= Synonymous 13/20 - 2
2-178576599-C-T c.2051G>A p.G684E Missense 13/20 - 1
2-178576600-C-G c.2050G>C p.G684R Missense 13/20 - 1
2-178576600-C-T c.2050G>A p.G684R Missense 13/20 - 1
2-178576603-C-T c.2047G>A p.A683T Missense 13/20 - 1
2-178576606-T-C c.2044A>G p.T682A Missense 13/20 - 1
2-178576681-G-A c.2044-75C>T - IntronicSNV - 12/19 4
2-178576703-C-T c.2044-97G>A - IntronicSNV - 12/19 1
2-178577642-C-A c.2044-1036G>T - IntronicSNV - 12/19 1
2-178586793-G-A c.2043+5593C>T - IntronicSNV - 12/19 1
2-178586834-T-C c.2043+5552A>G - IntronicSNV - 12/19 1
2-178590812-AT-A c.2043+1573del - IntronicDeletion - 12/19 1
2-178592332-C-T c.2043+54G>A - IntronicSNV - 12/19 1
2-178592379-C-T c.2043+7G>A - IntronicSNV - 12/19 1
2-178592395-C-T c.2034G>A p.A678= Synonymous 12/20 - 1
2-178592397-C-T c.2032G>A p.A678T Missense 12/20 - 3
2-178592398-G-A c.2031C>T p.F677= Synonymous 12/20 - 3
2-178592398-G-T c.2031C>A p.F677L Missense 12/20 - 1
2-178592400-A-T c.2029T>A p.F677I Missense 12/20 - 1
2-178592401-C-A c.2028G>T p.M676I Missense 12/20 - 1
2-178592401-C-G c.2028G>C p.M676I Missense 12/20 - 1
2-178592401-C-T c.2028G>A p.M676I Missense 12/20 - 1
2-178592404-CAG-GAT c.2023_2025delinsATC p.L675I Missense 12/20 - 1
2-178592404-C-T c.2025G>A p.L675= Synonymous 12/20 - 3
2-178592409-G-T c.2020C>A p.Q674K Missense 12/20 - 1
2-178592413-C-CGGG c.2015_2016insCCC p.V672_C673insP InFrameInsertion 12/20 - 1
2-178592413-C-CAGG c.2015_2016insCCT p.V672_C673insL InFrameInsertion 12/20 - 4
2-178592415-C-CGGA c.2013_2014insTCC p.N671_V672insS InFrameInsertion 12/20 - 11
2-178592418-T-TAGA c.2010_2011insTCT p.F670_N671insS InFrameInsertion 12/20 - 1
2-178592418-T-TGAG c.2010_2011insCTC p.F670_N671insL InFrameInsertion 12/20 - 1
2-178592420-A-ACGG c.2008_2009insCCG p.F670delinsSV MultiAAMissense 12/20 - 1
2-178592420-A-AGGG c.2008_2009insCCC p.F670delinsSL MultiAAMissense 12/20 - 2
2-178592420-A-AAGT c.2008_2009insACT p.A669_F670insY InFrameInsertion 12/20 - 1
2-178592421-A-AGGG c.2007_2008insCCC p.A669_F670insP InFrameInsertion 12/20 - 1
2-178592423-G-A c.2006C>T p.A669V Missense 12/20 - 2
2-178592436-T-G c.1993A>C p.N665H Missense 12/20 - 1
2-178592437-G-C c.1992C>G p.H664Q Missense 12/20 - 2
2-178592437-G-T c.1992C>A p.H664Q Missense 12/20 - 1
2-178592438-TG-CC c.1990_1991delinsGG p.H664G Missense 12/20 - 2
2-178592440-G-C c.1989C>G p.Y663* Nonsense 12/20 - 1
2-178592440-G-T c.1989C>A p.Y663* Nonsense 12/20 - 3
2-178592444-A-G c.1985T>C p.L662P Missense 12/20 - 1
2-178592445-G-C c.1984C>G p.L662V Missense 12/20 - 2
2-178592445-G-T c.1984C>A p.L662I Missense 12/20 - 1
2-178592448-C-A c.1981G>T p.V661F Missense 12/20 - 1
2-178592452-C-A c.1977G>T p.R659= Synonymous 12/20 - 2
2-178592453-C-T c.1976G>A p.R659Q Missense 12/20 - 1
2-178592456-T-C c.1973A>G p.Y658C Missense 12/20 - 7
2-178592456-T-G c.1973A>C p.Y658S Missense 12/20 - 1
2-178592459-T-G c.1970A>C p.N657T Missense 12/20 - 1
2-178592460-T-TA c.1968_1969insT p.N657* Nonsense 12/20 - 1
2-178592464-C-T c.1965G>A p.R655= Synonymous 12/20 - 2
2-178592466-T-G c.1963A>C p.R655= Synonymous 12/20 - 1
2-178592465-C-T c.1964G>A p.R655K Missense 12/20 - 2
2-178592471-G-A c.1958C>T p.T653I Missense 12/20 - 1
2-178592473-C-T c.1956G>A p.L652= Synonymous 12/20 - 1
2-178592478-G-T c.1951C>A p.L651I Missense 12/20 - 1
2-178592479-C-T c.1950G>A p.W650* Nonsense 12/20 - 1
2-178592492-G-A c.1937C>T p.T646I Missense 12/20 - 1
2-178592753-C-T c.1935+1G>A - IntronicSNV - 11/19 1
2-178592755-T-A c.1934A>T p.E645V Missense 11/20 - 1
2-178592758-T-C c.1931A>G p.Y644C Missense 11/20 - 1
2-178592759-A-G c.1930T>C p.Y644H Missense 11/20 - 1
2-178592761-T-A c.1928A>T p.D643V Missense 11/20 - 1
2-178592768-T-C c.1921A>G p.K641E Missense 11/20 - 3
2-178592775-C-T c.1914G>A p.Q638= Synonymous 11/20 - 2
2-178592780-C-T c.1909G>A p.V637I Missense 11/20 - 5
2-178592783-T-C c.1906A>G p.M636V Missense 11/20 - 1
2-178592784-CC-GT c.1904_1905delinsAC p.G635D Missense 11/20 - 1
2-178592786-C-A c.1903G>T p.G635W Missense 11/20 - 1
2-178592796-G-A c.1893C>T p.F631= Synonymous 11/20 - 1
2-178592803-C-A c.1886G>T p.R629L Missense 11/20 - 4
2-178592803-C-T c.1886G>A p.R629Q Missense 11/20 - 5
2-178592804-G-A c.1885C>T p.R629W Missense 11/20 - 3
2-178592807-G-A c.1882C>T p.L628F Missense 11/20 - 4
2-178592807-G-C c.1882C>G p.L628V Missense 11/20 - 1
2-178592812-G-A c.1877C>T p.A626V Missense 11/20 - 1
2-178592814-TGTGATCATGGCATCAACGTC-T c.1855_1874del p.D619Sfs*16 Frameshift 11/20 - 1
2-178592817-G-A c.1872C>T p.I624= Synonymous 11/20 - 1
2-178592817-G-T c.1872C>A p.I624= Synonymous 11/20 - 1
2-178592820-C-A c.1869G>T p.M623I Missense 11/20 - 2
2-178592820-C-G c.1869G>C p.M623I Missense 11/20 - 2
2-178592820-C-T c.1869G>A p.M623I Missense 11/20 - 2
2-178592823-G-A c.1866C>T p.A622= Synonymous 11/20 - 1
2-178592823-G-C c.1866C>G p.A622= Synonymous 11/20 - 1
2-178592823-G-T c.1866C>A p.A622= Synonymous 11/20 - 1
2-178592824-G-A c.1865C>T p.A622V Missense 11/20 - 1
2-178592824-G-C c.1865C>G p.A622G Missense 11/20 - 1
2-178592832-G-A c.1857C>T p.D619= Synonymous 11/20 - 1
2-178592834-C-G c.1855G>C p.D619H Missense 11/20 - 1
2-178592834-C-T c.1855G>A p.D619N Missense 11/20 - 5
2-178592839-G-A c.1850C>T p.S617F Missense 11/20 - 1
2-178592849-C-G c.1840G>C p.D614H Missense 11/20 - 3
2-178592849-C-T c.1840G>A p.D614N Missense 11/20 - 1
2-178592851-A-G c.1838T>C p.F613S Missense 11/20 - 1
2-178592855-G-T c.1834C>A p.H612N Missense 11/20 - 1
2-178592862-A-C c.1827T>G p.D609E Missense 11/20 - 1
2-178592862-A-T c.1827T>A p.D609E Missense 11/20 - 1
2-178592864-C-A c.1825G>T p.D609Y Missense 11/20 - 2
2-178592864-C-T c.1825G>A p.D609N Missense 11/20 - 12
2-178592867-T-C c.1822A>G p.I608V Missense 11/20 - 1
2-178592868-G-A c.1821C>T p.A607= Synonymous 11/20 - 1
2-178592868-G-C c.1821C>G p.A607= Synonymous 11/20 - 1
2-178592868-G-T c.1821C>A p.A607= Synonymous 11/20 - 1
2-178592870-C-T c.1819G>A p.A607T Missense 11/20 - 1
2-178592878-G-C c.1811C>G p.S604* Nonsense 11/20 - 4
2-178592878-G-T c.1811C>A p.S604* Nonsense 11/20 - 1
2-178592880-CAC-AAA c.1807_1809delinsTTT p.V603F Missense 11/20 - 1
2-178592888-G-C c.1801C>G p.P601A Missense 11/20 - 2
2-178592890-A-T c.1799T>A p.I600N Missense 11/20 - 1
2-178592891-T-G c.1798A>C p.I600L Missense 11/20 - 2
2-178596672-C-A c.1789-3772G>T - IntronicSNV - 10/19 1
2-178600140-C-A c.1789-7240G>T - IntronicSNV - 10/19 1
2-178600183-A-G c.1789-7283T>C - IntronicSNV - 10/19 1
2-178600616-C-T c.1789-7716G>A - IntronicSNV - 10/19 2
2-178602134-G-A c.1789-9234C>T - IntronicSNV - 10/19 1
2-178602134-G-C c.1789-9234C>G - IntronicSNV - 10/19 1
2-178603286-T-A c.1789-10386A>T - IntronicSNV - 10/19 2
2-178603286-T-C c.1789-10386A>G - IntronicSNV - 10/19 2
2-178603588-G-C c.1789-10688C>G - IntronicSNV - 10/19 1
2-178604022-T-A c.1789-11122A>T - IntronicSNV - 10/19 2
2-178604022-T-C c.1789-11122A>G - IntronicSNV - 10/19 2
2-178604146-T-C c.1789-11246A>G - IntronicSNV - 10/19 1
2-178605770-C-A c.1789-12870G>T - IntronicSNV - 10/19 5
2-178607273-G-C c.1789-14373C>G - IntronicSNV - 10/19 1
2-178607359-G-A c.1789-14459C>T - IntronicSNV - 10/19 3
2-178607998-T-G c.1789-15098A>C - IntronicSNV - 10/19 2
2-178609980-T-G c.1789-17080A>C - IntronicSNV - 10/19 1
2-178612270-A-C c.1789-19370T>G - IntronicSNV - 10/19 2
2-178612270-A-T c.1789-19370T>A - IntronicSNV - 10/19 2
2-178612846-A-C c.1789-19946T>G - IntronicSNV - 10/19 3
2-178614202-C-T c.1788+19849G>A - IntronicSNV - 10/19 1
2-178615001-A-T c.1788+19050T>A - IntronicSNV - 10/19 1
2-178617400-C-T c.1788+16651G>A - IntronicSNV - 10/19 1
2-178620761-T-C c.1788+13290A>G - IntronicSNV - 10/19 2
2-178620786-G-T c.1788+13265C>A - IntronicSNV - 10/19 1
2-178624384-C-T c.1788+9667G>A - IntronicSNV - 10/19 1
2-178627862-C-T c.1788+6189G>A - IntronicSNV - 10/19 1
2-178629227-C-A c.1788+4824G>T - IntronicSNV - 10/19 1
2-178629227-C-G c.1788+4824G>C - IntronicSNV - 10/19 1
2-178629227-C-T c.1788+4824G>A - IntronicSNV - 10/19 1
2-178629722-T-G c.1788+4329A>C - IntronicSNV - 10/19 1
2-178630761-C-G c.1788+3290G>C - IntronicSNV - 10/19 1
2-178633377-C-A c.1788+674G>T - IntronicSNV - 10/19 1
2-178633969-C-T c.1788+82G>A - IntronicSNV - 10/19 1
2-178634023-ACT-A c.1788+27_1788+28del - IntronicDeletion - 10/19 1
2-178634052-T-C c.1787A>G p.K596R Missense 10/20 - 1
2-178634062-C-T c.1777G>A p.D593N Missense 10/20 - 2
2-178634064-A-G c.1775T>C p.V592A Missense 10/20 - 1
2-178634065-C-G c.1774G>C p.V592L Missense 10/20 - 1
2-178634076-G-C c.1763C>G p.S588* Nonsense 10/20 - 1
2-178634082-G-A c.1757C>T p.T586I Missense 10/20 - 1
2-178634089-G-A c.1750C>T p.H584Y Missense 10/20 - 2
2-178634090-G-T c.1749C>A p.Y583* Nonsense 10/20 - 1
2-178634094-G-A c.1745C>T p.S582L Missense 10/20 - 3
2-178634101-C-T c.1738G>A p.V580M Missense 10/20 - 1
2-178634135-C-A c.1738-34G>T - IntronicSNV - 9/19 3
2-178660450-C-T c.1737+21106G>A - IntronicSNV - 9/19 4
2-178664792-G-A c.1737+16764C>T - IntronicSNV - 9/19 1
2-178669674-C-G c.1737+11882G>C - IntronicSNV - 9/19 1
2-178669674-C-T c.1737+11882G>A - IntronicSNV - 9/19 1
2-178671155-C-A c.1737+10401G>T - IntronicSNV - 9/19 1
2-178672532-C-G c.1737+9024G>C - IntronicSNV - 9/19 1
2-178674633-G-C c.1737+6923C>G - IntronicSNV - 9/19 1
2-178678860-T-G c.1737+2696A>C - IntronicSNV - 9/19 1
2-178679169-G-A c.1737+2387C>T - IntronicSNV - 9/19 1
2-178679243-C-T c.1737+2313G>A - IntronicSNV - 9/19 1
2-178679577-A-G c.1737+1979T>C - IntronicSNV - 9/19 1
2-178680378-C-T c.1737+1178G>A - IntronicSNV - 9/19 1
2-178680431-A-G c.1737+1125T>C - IntronicSNV - 9/19 1
2-178680454-A-G c.1737+1102T>C - IntronicSNV - 9/19 1
2-178680454-A-T c.1737+1102T>A - IntronicSNV - 9/19 1
2-178681447-C-A c.1737+109G>T - IntronicSNV - 9/19 3
2-178681500-T-C c.1737+56A>G - IntronicSNV - 9/19 1
2-178681517-G-A c.1737+39C>T - IntronicSNV - 9/19 2
2-178681534-C-T c.1737+22G>A - IntronicSNV - 9/19 7
2-178681558-C-T c.1735G>A p.D579N Missense 9/20 - 1
2-178681569-G-A c.1724C>T p.S575F Missense 9/20 - 2
2-178681569-G-T c.1724C>A p.S575Y Missense 9/20 - 1
2-178681578-G-A c.1715C>T p.A572V Missense 9/20 - 1
2-178681580-C-G c.1713G>C p.W571C Missense 9/20 - 2
2-178681583-G-A c.1710C>T p.S570= Synonymous 9/20 - 2
2-178681584-G-A c.1709C>T p.S570F Missense 9/20 - 1
2-178681585-A-G c.1708T>C p.S570P Missense 9/20 - 3
2-178681589-C-T c.1704G>A p.K568= Synonymous 9/20 - 1
2-178681590-T-C c.1703A>G p.K568R Missense 9/20 - 3
2-178681597-G-A c.1696C>T p.Q566* Nonsense 9/20 - 1
2-178681600-C-T c.1693G>A p.D565N Missense 9/20 - 1
2-178681601-A-AGGG c.1691_1692insCCC p.Y564_D565insP InFrameInsertion 9/20 - 1
2-178681602-T-TGGA c.1690_1691insTCC p.Y564delinsFH MultiAAMissense 9/20 - 4
2-178681602-T-TAGG c.1690_1691insCCT p.M563_Y564insS InFrameInsertion 9/20 - 9
2-178681604-C-A c.1689G>T p.M563I Missense 9/20 - 1
2-178681604-C-G c.1689G>C p.M563I Missense 9/20 - 1
2-178681604-C-T c.1689G>A p.M563I Missense 9/20 - 1
2-178681606-T-TAGA c.1686_1687insTCT p.I562_M563insS InFrameInsertion 9/20 - 1
2-178681607-A-AAGG c.1685_1686insCCT p.I562_M563insL InFrameInsertion 9/20 - 1
2-178681608-A-AGGG c.1684_1685insCCC p.I562delinsTL MultiAAMissense 9/20 - 1
2-178681608-A-G c.1685T>C p.I562T Missense 9/20 - 7
2-178681609-T-C c.1684A>G p.I562V Missense 9/20 - 1
2-178681609-T-TGGA c.1683_1684insTCC p.T561_I562insS InFrameInsertion 9/20 - 1
2-178681609-T-TGGG c.1683_1684insCCC p.T561_I562insP InFrameInsertion 9/20 - 1
2-178681609-T-TGTA c.1683_1684insTAC p.T561_I562insY InFrameInsertion 9/20 - 1
2-178681614-T-C c.1679A>G p.N560S Missense 9/20 - 1
2-178681618-T-C c.1675A>G p.N559D Missense 9/20 - 1
2-178681622-TGCC-T c.1669_1671del p.G557del InFrameDeletion 9/20 - 1
2-178681629-C-T c.1664G>A p.G555E Missense 9/20 - 2
2-178681630-C-G c.1663G>C p.G555R Missense 9/20 - 2
2-178681630-C-T c.1663G>A p.G555R Missense 9/20 - 2
2-178681632-C-A c.1661G>T p.C554F Missense 9/20 - 1
2-178681635-A-G c.1658T>C p.F553S Missense 9/20 - 1
2-178681632-CA-C c.1660del p.C554Vfs*14 Frameshift 9/20 - 1
2-178681634-AAAG-A c.1656_1658del p.F553del InFrameDeletion 9/20 - 2
2-178681636-AGA-GG c.1655_1657delinsCC p.I552Tfs*16 Frameshift 9/20 - 2
2-178681637-G-A c.1656C>T p.I552= Synonymous 9/20 - 1
2-178681637-G-T c.1656C>A p.I552= Synonymous 9/20 - 1
2-178681638-A-G c.1655T>C p.I552T Missense 9/20 - 2
2-178681647-G-C c.1646C>G p.A549G Missense 9/20 - 1
2-178681648-C-T c.1645G>A p.A549T Missense 9/20 - 1
2-178681716-G-C c.1645-68C>G - IntronicSNV - 8/19 5
2-178681716-G-T c.1645-68C>A - IntronicSNV - 8/19 5
2-178682329-T-A c.1644+256A>T - IntronicSNV - 8/19 1
2-178682329-T-G c.1644+256A>C - IntronicSNV - 8/19 1
2-178682471-C-T c.1644+114G>A - IntronicSNV - 8/19 1
2-178682558-A-ATATAAAC c.1644+26_1644+27insGTTTATA - IntronicInsertion - 8/19 7
2-178682563-GT-G c.1644+21del - IntronicDeletion - 8/19 1
2-178682584-C-G c.1644+1G>C - IntronicSNV - 8/19 1
2-178682585-C-T c.1644G>A p.E548= Synonymous 8/20 - 1
2-178682587-C-G c.1642G>C p.E548Q Missense 8/20 - 1
2-178682592-A-G c.1637T>C p.L546P Missense 8/20 - 1
2-178682595-C-T c.1634G>A p.R545Q Missense 8/20 - 1
2-178682596-G-A c.1633C>T p.R545* Nonsense 8/20 - 9
2-178682596-G-C c.1633C>G p.R545G Missense 8/20 - 1
2-178682599-G-C c.1630C>G p.Q544E Missense 8/20 - 1
2-178682602-C-A c.1627G>T p.D543Y Missense 8/20 - 1
2-178682602-C-T c.1627G>A p.D543N Missense 8/20 - 2
2-178682603-T-A c.1626A>T p.A542= Synonymous 8/20 - 14
2-178682603-T-C c.1626A>G p.A542= Synonymous 8/20 - 18
2-178682603-T-G c.1626A>C p.A542= Synonymous 8/20 - 1
2-178682608-C-T c.1621G>A p.D541N Missense 8/20 - 8
2-178682610-T-C c.1619A>G p.D540G Missense 8/20 - 1
2-178682613-A-G c.1616T>C p.F539S Missense 8/20 - 3
2-178682621-C-A c.1608G>T p.G536= Synonymous 8/20 - 1
2-178682621-C-G c.1608G>C p.G536= Synonymous 8/20 - 1
2-178682621-C-T c.1608G>A p.G536= Synonymous 8/20 - 1
2-178682624-AT-GA c.1604_1605delinsTC p.D535V Missense 8/20 - 1
2-178682626-C-A c.1603G>T p.D535Y Missense 8/20 - 2
2-178682626-C-T c.1603G>A p.D535N Missense 8/20 - 2
2-178682628-A-G c.1601T>C p.L534P Missense 8/20 - 1
2-178682632-T-A c.1597A>T p.R533* Nonsense 8/20 - 1
2-178682641-C-G c.1588G>C p.V530L Missense 8/20 - 1
2-178682641-C-T c.1588G>A p.V530M Missense 8/20 - 4
2-178682644-G-A c.1585C>T p.Q529* Nonsense 8/20 - 2
2-178682655-A-G c.1577-3T>C - IntronicSNV - 7/19 12
2-178684398-ATGCATG-A c.1576+544_1576+549del - IntronicDeletion - 7/19 1
2-178684720-G-A c.1576+227C>T - IntronicSNV - 7/19 4
2-178684720-G-C c.1576+227C>G - IntronicSNV - 7/19 4
2-178684799-T-C c.1576+148A>G - IntronicSNV - 7/19 2
2-178684820-G-A c.1576+127C>T - IntronicSNV - 7/19 3
2-178684860-G-A c.1576+87C>T - IntronicSNV - 7/19 1
2-178684878-A-AAG c.1576+68_1576+69insCT - IntronicInsertion - 7/19 1
2-178684878-A-AAGG c.1576+68_1576+69insCCT - IntronicInsertion - 7/19 1
2-178684878-A-AAGGGGGC c.1576+68_1576+69insGCCCCCT - IntronicInsertion - 7/19 1
2-178684879-AT-A c.1576+68del - IntronicDeletion - 7/19 1
2-178684879-T-A c.1576+68A>T - IntronicSNV - 7/19 3
2-178684879-T-G c.1576+68A>C - IntronicSNV - 7/19 2
2-178684879-T-TGG c.1576+66_1576+67dup - IntronicInsertion - 7/19 3
2-178684897-A-T c.1576+50T>A - IntronicSNV - 7/19 4
2-178684921-G-A c.1576+26C>T - IntronicSNV - 7/19 6
2-178684921-G-T c.1576+26C>A - IntronicSNV - 7/19 3
2-178684947-C-A c.1576G>T p.G526* Nonsense 7/20 - 1
2-178684953-T-A c.1570A>T p.I524L Missense 7/20 - 1
2-178684953-T-G c.1570A>C p.I524L Missense 7/20 - 1
2-178684954-T-C c.1569A>G p.Q523= Synonymous 7/20 - 3
2-178684957-G-C c.1566C>G p.H522Q Missense 7/20 - 1
2-178684957-G-T c.1566C>A p.H522Q Missense 7/20 - 1
2-178684959-G-A c.1564C>T p.H522Y Missense 7/20 - 1
2-178684961-T-C c.1562A>G p.N521S Missense 7/20 - 4
2-178684964-CT-GG c.1558_1559delinsCC p.S520P Missense 7/20 - 1
2-178684965-T-C c.1558A>G p.S520G Missense 7/20 - 1
2-178684967-T-C c.1556A>G p.N519S Missense 7/20 - 1
2-178684974-T-C c.1549A>G p.I517V Missense 7/20 - 2
2-178684975-A-G c.1548T>C p.P516= Synonymous 7/20 - 2
2-178684977-G-A c.1546C>T p.P516S Missense 7/20 - 3
2-178684982-C-G c.1541G>C p.C514S Missense 7/20 - 1
2-178684983-A-T c.1540T>A p.C514S Missense 7/20 - 1
2-178684986-G-A c.1537C>T p.L513F Missense 7/20 - 2
2-178684986-G-T c.1537C>A p.L513I Missense 7/20 - 6
2-178684989-C-A c.1534G>T p.V512F Missense 7/20 - 1
2-178684989-C-G c.1534G>C p.V512L Missense 7/20 - 1
2-178684991-G-A c.1532C>T p.S511F Missense 7/20 - 1
2-178684993-T-C c.1530A>G p.R510= Synonymous 7/20 - 1
2-178684995-T-G c.1528A>C p.R510= Synonymous 7/20 - 1
2-178684994-C-A c.1529G>T p.R510I Missense 7/20 - 4
2-178684995-T-C c.1528A>G p.R510G Missense 7/20 - 2
2-178685001-TGAAAA-T c.1518_1522del p.F507Hfs*12 Frameshift 7/20 - 1
2-178685007-C-T c.1516G>A p.G506S Missense 7/20 - 1
2-178685017-G-A c.1506C>T p.D502= Synonymous 7/20 - 1
2-178685017-G-C c.1506C>G p.D502E Missense 7/20 - 1
2-178685017-G-T c.1506C>A p.D502E Missense 7/20 - 1
2-178685019-C-T c.1504G>A p.D502N Missense 7/20 - 2
2-178685129-C-T c.1501-107G>A - IntronicSNV - 6/19 3
2-178696936-GA-G c.1500+8042del - IntronicDeletion - 6/19 1
2-178700057-G-A c.1500+4921C>T - IntronicSNV - 6/19 1
2-178703583-C-T c.1500+1395G>A - IntronicSNV - 6/19 2
2-178703694-C-T c.1500+1284G>A - IntronicSNV - 6/19 1
2-178704623-A-G c.1500+355T>C - IntronicSNV - 6/19 1
2-178704983-C-A c.1495G>T p.A499S Missense 6/20 - 1
2-178704989-A-G c.1489T>C p.F497L Missense 6/20 - 1
2-178704991-C-T c.1487G>A p.R496H Missense 6/20 - 2
2-178704992-G-A c.1486C>T p.R496C Missense 6/20 - 1
2-178704993-C-A c.1485G>T p.P495= Synonymous 6/20 - 1
2-178704993-C-G c.1485G>C p.P495= Synonymous 6/20 - 1
2-178704993-C-T c.1485G>A p.P495= Synonymous 6/20 - 1
2-178704994-G-A c.1484C>T p.P495L Missense 6/20 - 4
2-178704995-G-A c.1483C>T p.P495S Missense 6/20 - 2
2-178704997-T-A c.1481A>T p.D494V Missense 6/20 - 6
2-178704998-C-T c.1480G>A p.D494N Missense 6/20 - 7
2-178705003-T-A c.1475A>T p.Y492F Missense 6/20 - 3
2-178705003-T-C c.1475A>G p.Y492C Missense 6/20 - 4
2-178705004-A-G c.1474T>C p.Y492H Missense 6/20 - 1
2-178705005-G-A c.1473C>T p.A491= Synonymous 6/20 - 1
2-178705005-G-C c.1473C>G p.A491= Synonymous 6/20 - 1
2-178705005-G-T c.1473C>A p.A491= Synonymous 6/20 - 1
2-178705006-G-T c.1472C>A p.A491D Missense 6/20 - 2
2-178705010-C-A c.1468G>T p.D490Y Missense 6/20 - 1
2-178705013-T-G c.1465A>C p.S489R Missense 6/20 - 1
2-178705018-T-C c.1460A>G p.N487S Missense 6/20 - 5
2-178705024-G-A c.1454C>T p.P485L Missense 6/20 - 4
2-178705027-A-T c.1451T>A p.L484H Missense 6/20 - 2
2-178705029-G-A c.1449C>T p.G483= Synonymous 6/20 - 1
2-178705030-C-A c.1448G>T p.G483V Missense 6/20 - 1
2-178705036-G-C c.1442C>G p.S481* Nonsense 6/20 - 2
2-178705036-G-T c.1442C>A p.S481* Nonsense 6/20 - 2
2-178705039-G-A c.1439C>T p.A480V Missense 6/20 - 2
2-178705039-G-C c.1439C>G p.A480G Missense 6/20 - 1
2-178705042-A-G c.1436T>C p.V479A Missense 6/20 - 1
2-178705044-CAG-AAA c.1432_1434delinsTTT p.L478F Missense 6/20 - 1
2-178705044-C-CGGG c.1433_1434insCCC p.L478_V479insP InFrameInsertion 6/20 - 1
2-178705044-C-CAGG c.1433_1434insCCT p.L478dup InFrameInsertion 6/20 - 4
2-178705046-G-GGGA c.1431_1432insTCC p.E477_L478insS InFrameInsertion 6/20 - 10
2-178705047-C-A c.1431G>T p.E477D Missense 6/20 - 1
2-178705047-C-G c.1431G>C p.E477D Missense 6/20 - 1
2-178705049-C-T c.1429G>A p.E477K Missense 6/20 - 1
2-178705049-C-CAGA c.1428_1429insTCT p.A476_E477insS InFrameInsertion 6/20 - 1
2-178705050-A-AGGG c.1427_1428insCCC p.A476_E477insP InFrameInsertion 6/20 - 1
2-178705051-G-GGGA c.1426_1427insTCC p.A476delinsVP MultiAAMissense 6/20 - 1
2-178705052-C-CGGA c.1425_1426insTCC p.I475_A476insS InFrameInsertion 6/20 - 1
2-178705052-C-CGGG c.1425_1426insCCC p.I475_A476insP InFrameInsertion 6/20 - 1
2-178705052-C-CGGT c.1425_1426insACC p.I475_A476insT InFrameInsertion 6/20 - 1
2-178705052-C-CGTA c.1425_1426insTAC p.I475_A476insY InFrameInsertion 6/20 - 1
2-178705057-C-T c.1421G>A p.S474N Missense 6/20 - 1
2-178705059-G-A c.1419C>T p.N473= Synonymous 6/20 - 1
2-178705067-T-C c.1411A>G p.I471V Missense 6/20 - 1
2-178705076-C-A c.1402G>T p.D468Y Missense 6/20 - 1
2-178705076-C-T c.1402G>A p.D468N Missense 6/20 - 1
2-178705080-G-A c.1398C>T p.Y466= Synonymous 6/20 - 7
2-178705080-G-C c.1398C>G p.Y466* Nonsense 6/20 - 2
2-178705084-G-A c.1394C>T p.S465L Missense 6/20 - 5
2-178705087-G-A c.1391C>T p.S464L Missense 6/20 - 4
2-178705087-GA-AT c.1390_1391delinsAT p.S464I Missense 6/20 - 1
2-178705087-G-C c.1391C>G p.S464* Nonsense 6/20 - 1
2-178705087-G-T c.1391C>A p.S464* Nonsense 6/20 - 1
2-178705089-T-C c.1389A>G p.K463= Synonymous 6/20 - 1
2-178705092-C-A c.1386G>T p.E462D Missense 6/20 - 1
2-178705092-C-T c.1386G>A p.E462= Synonymous 6/20 - 3
2-178705094-C-G c.1384G>C p.E462Q Missense 6/20 - 1
2-178705095-C-A c.1383G>T p.M461I Missense 6/20 - 1
2-178705095-C-G c.1383G>C p.M461I Missense 6/20 - 1
2-178705095-C-T c.1383G>A p.M461I Missense 6/20 - 1
2-178705099-C-T c.1379G>A p.S460N Missense 6/20 - 1
2-178705100-T-C c.1378A>G p.S460G Missense 6/20 - 1
2-178705103-C-A c.1375G>T p.E459* Nonsense 6/20 - 1
2-178705103-C-G c.1375G>C p.E459Q Missense 6/20 - 2
2-178705104-T-G c.1374A>C p.K458N Missense 6/20 - 1
2-178705107-G-C c.1371C>G p.F457L Missense 6/20 - 2
2-178705107-G-T c.1371C>A p.F457L Missense 6/20 - 5
2-178705109-A-G c.1369T>C p.F457L Missense 6/20 - 2
2-178705179-A-G c.1368-69T>C - IntronicSNV - 5/19 1
2-178706193-T-C c.1368-1083A>G - IntronicSNV - 5/19 1
2-178716601-A-T c.1368-11491T>A - IntronicSNV - 5/19 1
2-178718409-G-A c.1368-13299C>T - IntronicSNV - 5/19 1
2-178723837-C-T c.1367+16749G>A - IntronicSNV - 5/19 1
2-178724948-CA-C c.1367+15637del - IntronicDeletion - 5/19 1
2-178727869-G-A c.1367+12717C>T - IntronicSNV - 5/19 1
2-178729554-G-A c.1367+11032C>T - IntronicSNV - 5/19 1
2-178731408-T-C c.1367+9178A>G - IntronicSNV - 5/19 1
2-178736065-G-A c.1367+4521C>T - IntronicSNV - 5/19 2
2-178740334-T-G c.1367+252A>C - IntronicSNV - 5/19 1
2-178740398-C-G c.1367+188G>C - IntronicSNV - 5/19 1
2-178740404-G-T c.1367+182C>A - IntronicSNV - 5/19 1
2-178740586-C-T c.1367G>A p.S456N Missense 5/20 - 1
2-178740591-C-A c.1362G>T p.E454D Missense 5/20 - 1
2-178740591-C-G c.1362G>C p.E454D Missense 5/20 - 2
2-178740591-C-T c.1362G>A p.E454= Synonymous 5/20 - 1
2-178740593-C-T c.1360G>A p.E454K Missense 5/20 - 2
2-178740598-T-A c.1355A>T p.D452V Missense 5/20 - 3
2-178740607-C-G c.1346G>C p.C449S Missense 5/20 - 1
2-178740607-C-T c.1346G>A p.C449Y Missense 5/20 - 1
2-178740608-A-C c.1345T>G p.C449G Missense 5/20 - 1
2-178740609-C-T c.1344G>A p.K448= Synonymous 5/20 - 2
2-178740611-T-C c.1342A>G p.K448E Missense 5/20 - 1
2-178740616-GA-AG c.1336_1337delinsCT p.S446L Missense 5/20 - 1
2-178740618-C-A c.1335G>T p.M445I Missense 5/20 - 1
2-178740618-C-G c.1335G>C p.M445I Missense 5/20 - 2
2-178740618-C-T c.1335G>A p.M445I Missense 5/20 - 1
2-178740619-A-G c.1334T>C p.M445T Missense 5/20 - 1
2-178740622-A-C c.1331T>G p.L444W Missense 5/20 - 1
2-178740626-C-T c.1327G>A p.E443K Missense 5/20 - 2
2-178740628-AA-GC c.1324_1325delinsGC p.F442A Missense 5/20 - 1
2-178740634-T-C c.1319A>G p.K440R Missense 5/20 - 2
2-178740634-T-G c.1319A>C p.K440T Missense 5/20 - 1
2-178740637-G-T c.1316C>A p.T439N Missense 5/20 - 1
2-178740638-T-C c.1315A>G p.T439A Missense 5/20 - 1
2-178740640-A-C c.1313T>G p.F438C Missense 5/20 - 1
2-178740647-C-A c.1306G>T p.V436L Missense 5/20 - 2
2-178740647-C-G c.1306G>C p.V436L Missense 5/20 - 2
2-178745034-C-T c.1303-4384G>A - IntronicSNV - 4/19 1
2-178753407-C-A c.1302+9378G>T - IntronicSNV - 4/19 4
2-178758228-G-A c.1302+4557C>T - IntronicSNV - 4/19 1
2-178758228-G-C c.1302+4557C>G - IntronicSNV - 4/19 1
2-178758862-A-C c.1302+3923T>G - IntronicSNV - 4/19 1
2-178762786-G-A c.1301C>T p.P434L Missense 4/20 - 1
2-178762786-G-T c.1301C>A p.P434Q Missense 4/20 - 1
2-178762789-G-A c.1298C>T p.S433L Missense 4/20 - 2
2-178762791-T-A c.1296A>T p.E432D Missense 4/20 - 1
2-178762793-C-T c.1294G>A p.E432K Missense 4/20 - 4
2-178762794-G-A c.1293C>T p.I431= Synonymous 4/20 - 4
2-178762794-G-T c.1293C>A p.I431= Synonymous 4/20 - 3
2-178762796-T-A c.1291A>T p.I431F Missense 4/20 - 4
2-178762797-G-C c.1290C>G p.D430E Missense 4/20 - 2
2-178762797-G-T c.1290C>A p.D430E Missense 4/20 - 2
2-178762798-T-C c.1289A>G p.D430G Missense 4/20 - 2
2-178762804-A-T c.1283T>A p.L428Q Missense 4/20 - 1
2-178762805-G-A c.1282C>T p.L428= Synonymous 4/20 - 1
2-178762806-G-A c.1281C>T p.L427= Synonymous 4/20 - 1
2-178762811-AAAC-A c.1273_1275del p.V425del InFrameDeletion 4/20 - 1
2-178762813-A-G c.1274T>C p.V425A Missense 4/20 - 1
2-178762813-A-T c.1274T>A p.V425D Missense 4/20 - 1
2-178762817-A-G c.1270T>C p.S424P Missense 4/20 - 3
2-178762821-G-A c.1266C>T p.R422= Synonymous 4/20 - 1
2-178762821-G-C c.1266C>G p.R422= Synonymous 4/20 - 1
2-178762821-G-T c.1266C>A p.R422= Synonymous 4/20 - 1
2-178762822-C-T c.1265G>A p.R422H Missense 4/20 - 2
2-178762823-G-A c.1264C>T p.R422C Missense 4/20 - 5
2-178762824-T-C c.1263A>G p.E421= Synonymous 4/20 - 11
2-178762826-C-T c.1261G>A p.E421K Missense 4/20 - 2
2-178762826-TCACATTTCAGCAGAGTTTG-T c.1243_1261del p.Q415Nfs*8 Frameshift 4/20 - 1
2-178762828-C-T c.1259G>A p.C420Y Missense 4/20 - 1
2-178762829-A-C c.1258T>G p.C420G Missense 4/20 - 1
2-178762835-G-A c.1252C>T p.L418= Synonymous 4/20 - 1
2-178762836-GCAGAGTT-G c.1245_1251del p.Q415Hfs*2 Frameshift 4/20 - 1
2-178762838-G-A c.1249C>T p.L417= Synonymous 4/20 - 1
2-178762840-G-A c.1247C>T p.T416I Missense 4/20 - 1
2-178762841-T-C c.1246A>G p.T416A Missense 4/20 - 1
2-178762842-T-TAG c.1244_1245insCT p.Q415Hfs*2 Frameshift 4/20 - 1
2-178762843-T-TAGGGCTCACACCTGTTAAAATCCAGCACAGTGTGGA c.1243_1244insTCCACACTGTGCTGGATTTTAACAGGTGTGAGCCCT p.Q415delinsLHTVLDFNRCEP* Frameshift 4/20 - 1
2-178762844-G-A c.1243C>T p.Q415* Nonsense 4/20 - 1
2-178762845-G-A c.1242C>T p.A414= Synonymous 4/20 - 1
2-178762845-G-C c.1242C>G p.A414= Synonymous 4/20 - 1
2-178762845-G-T c.1242C>A p.A414= Synonymous 4/20 - 1
2-178762846-G-A c.1241C>T p.A414V Missense 4/20 - 1
2-178762848-CCG-ACA c.1237_1239delinsTGT p.R413C Missense 4/20 - 1
2-178762849-C-A c.1238G>T p.R413L Missense 4/20 - 1
2-178762849-CG-TA c.1237_1238delinsTA p.R413* Nonsense 4/20 - 2
2-178762850-G-A c.1237C>T p.R413W Missense 4/20 - 2
2-178762853-G-T c.1234C>A p.H412N Missense 4/20 - 2
2-178762865-T-A c.1222A>T p.K408* Nonsense 4/20 - 1
2-178762866-G-T c.1221C>A p.V407= Synonymous 4/20 - 2
2-178762874-T-G c.1213A>C p.K405Q Missense 4/20 - 1
2-178762875-C-T c.1212G>A p.E404= Synonymous 4/20 - 1
2-178762877-C-T c.1210G>A p.E404K Missense 4/20 - 1
2-178762881-G-A c.1206C>T p.D402= Synonymous 4/20 - 2
2-178762881-G-C c.1206C>G p.D402E Missense 4/20 - 2
2-178762881-G-T c.1206C>A p.D402E Missense 4/20 - 4
2-178762886-T-C c.1201A>G p.T401A Missense 4/20 - 1
2-178762885-GTCTGT-G c.1197_1201del p.E399Dfs*2 Frameshift 4/20 - 1
2-178762892-C-T c.1195G>A p.E399K Missense 4/20 - 1
2-178762895-C-T c.1192G>A p.E398K Missense 4/20 - 1
2-178762897-A-C c.1190T>G p.F397C Missense 4/20 - 1
2-178762900-A-T c.1187T>A p.L396H Missense 4/20 - 1
2-178762902-G-T c.1185C>A p.D395E Missense 4/20 - 2
2-178762914-C-A c.1173G>T p.E391D Missense 4/20 - 4
2-178762914-C-G c.1173G>C p.E391D Missense 4/20 - 2
2-178762916-C-G c.1171G>C p.E391Q Missense 4/20 - 1
2-178762917-T-A c.1170A>T p.L390= Synonymous 4/20 - 1
2-178762917-T-C c.1170A>G p.L390= Synonymous 4/20 - 1
2-178762917-T-G c.1170A>C p.L390= Synonymous 4/20 - 1
2-178762919-G-A c.1168C>T p.L390= Synonymous 4/20 - 1
2-178762920-C-A c.1167G>T p.L389F Missense 4/20 - 1
2-178762920-C-G c.1167G>C p.L389F Missense 4/20 - 1
2-178762922-A-G c.1165T>C p.L389= Synonymous 4/20 - 1
2-178763070-C-G c.1162-145G>C - IntronicSNV - 3/19 1
2-178764089-G-A c.1162-1164C>T - IntronicSNV - 3/19 1
2-178764089-G-T c.1162-1164C>A - IntronicSNV - 3/19 1
2-178764174-C-A c.1162-1249G>T - IntronicSNV - 3/19 1
2-178768662-A-T c.1161+1163T>A - IntronicSNV - 3/19 1
2-178769410-GT-G c.1161+415del - IntronicDeletion - 3/19 1
2-178769757-G-C c.1161+68C>G - IntronicSNV - 3/19 1
2-178769822-C-G c.1161+3G>C - IntronicSNV - 3/19 1
2-178769824-C-T c.1161+1G>A - IntronicSNV - 3/19 1
2-178769825-TCT-ATG c.1159_1161delinsCAT p.R387H Missense 3/20 - 1
2-178769832-C-A c.1154G>T p.R385I Missense 3/20 - 2
2-178769832-C-T c.1154G>A p.R385K Missense 3/20 - 1
2-178769836-C-T c.1150G>A p.E384K Missense 3/20 - 5
2-178769842-C-A c.1144G>T p.E382* Nonsense 3/20 - 1
2-178769846-C-A c.1140G>T p.R380S Missense 3/20 - 1
2-178769846-C-G c.1140G>C p.R380S Missense 3/20 - 1
2-178769850-G-A c.1136C>T p.S379L Missense 3/20 - 1
2-178769850-G-C c.1136C>G p.S379* Nonsense 3/20 - 1
2-178769850-G-T c.1136C>A p.S379* Nonsense 3/20 - 1
2-178769854-C-G c.1132G>C p.A378P Missense 3/20 - 3
2-178769854-GCA-G c.1131_1132del p.A378Lfs*6 Frameshift 3/20 - 1
2-178769857-GC-G c.1129del p.A377Lfs*14 Frameshift 3/20 - 1
2-178769861-G-A c.1125C>T p.L375= Synonymous 3/20 - 1
2-178769861-G-C c.1125C>G p.L375= Synonymous 3/20 - 1
2-178769861-G-T c.1125C>A p.L375= Synonymous 3/20 - 1
2-178769868-G-A c.1118C>T p.A373V Missense 3/20 - 2
2-178769872-T-C c.1114A>G p.N372D Missense 3/20 - 1
2-178769878-T-C c.1108A>G p.I370V Missense 3/20 - 1
2-178769881-C-T c.1105G>A p.A369T Missense 3/20 - 5
2-178769882-G-A c.1104C>T p.I368= Synonymous 3/20 - 1
2-178769883-A-G c.1103T>C p.I368T Missense 3/20 - 4
2-178769883-A-T c.1103T>A p.I368N Missense 3/20 - 1
2-178769884-T-C c.1102A>G p.I368V Missense 3/20 - 1
2-178769886-C-A c.1100G>T p.G367V Missense 3/20 - 2
2-178769886-C-T c.1100G>A p.G367E Missense 3/20 - 2
2-178769887-C-A c.1099G>T p.G367* Nonsense 3/20 - 4
2-178769892-A-C c.1094T>G p.F365C Missense 3/20 - 1
2-178769895-G-A c.1091C>T p.P364L Missense 3/20 - 1
2-178769908-G-A c.1078C>T p.Q360* Nonsense 3/20 - 1
2-178769908-G-T c.1078C>A p.Q360K Missense 3/20 - 6
2-178769912-A-C c.1074T>G p.V358= Synonymous 3/20 - 1
2-178769912-A-G c.1074T>C p.V358= Synonymous 3/20 - 1
2-178769912-A-T c.1074T>A p.V358= Synonymous 3/20 - 1
2-178769917-G-A c.1072-3C>T - IntronicSNV - 2/19 3
2-178769992-T-C c.1072-78A>G - IntronicSNV - 2/19 4
2-178775159-A-C c.1072-5245T>G - IntronicSNV - 2/19 1
2-178775647-T-C c.1072-5733A>G - IntronicSNV - 2/19 1
2-178778130-T-C c.1072-8216A>G - IntronicSNV - 2/19 1
2-178778130-T-G c.1072-8216A>C - IntronicSNV - 2/19 1
2-178785116-G-A c.1072-15202C>T - IntronicSNV - 2/19 1
2-178787420-T-C c.1072-17506A>G - IntronicSNV - 2/19 1
2-178788488-A-G c.1072-18574T>C - IntronicSNV - 2/19 1
2-178795430-G-A c.1072-25516C>T - IntronicSNV - 2/19 5
2-178799617-C-T c.1072-29703G>A - IntronicSNV - 2/19 1
2-178800051-A-C c.1072-30137T>G - IntronicSNV - 2/19 1
2-178801750-T-G c.1072-31836A>C - IntronicSNV - 2/19 1
2-178805428-T-C c.1072-35514A>G - IntronicSNV - 2/19 1
2-178810764-G-A c.1072-40850C>T - IntronicSNV - 2/19 1
2-178810828-G-A c.1072-40914C>T - IntronicSNV - 2/19 1
2-178810828-G-T c.1072-40914C>A - IntronicSNV - 2/19 1
2-178828308-C-T c.1071+50721G>A - IntronicSNV - 2/19 1
2-178828390-T-A c.1071+50639A>T - IntronicSNV - 2/19 1
2-178828390-T-C c.1071+50639A>G - IntronicSNV - 2/19 1
2-178828507-C-G c.1071+50522G>C - IntronicSNV - 2/19 1
2-178828507-C-T c.1071+50522G>A - IntronicSNV - 2/19 1
2-178836629-T-C c.1071+42400A>G - IntronicSNV - 2/19 1
2-178836629-T-G c.1071+42400A>C - IntronicSNV - 2/19 1
2-178843822-G-A c.1071+35207C>T - IntronicSNV - 2/19 1
2-178844286-C-T c.1071+34743G>A - IntronicSNV - 2/19 1
2-178845035-T-A c.1071+33994A>T - IntronicSNV - 2/19 1
2-178847912-T-G c.1071+31117A>C - IntronicSNV - 2/19 1
2-178849435-CA-C c.1071+29593del - IntronicDeletion - 2/19 1
2-178849951-C-CT c.1071+29077dup - IntronicInsertion - 2/19 1
2-178850768-T-C c.1071+28261A>G - IntronicSNV - 2/19 1
2-178853378-G-A c.1071+25651C>T - IntronicSNV - 2/19 1
2-178853441-C-G c.1071+25588G>C - IntronicSNV - 2/19 1
2-178854221-C-A c.1071+24808G>T - IntronicSNV - 2/19 1
2-178854889-G-A c.1071+24140C>T - IntronicSNV - 2/19 1
2-178855158-T-TG c.1071+23870dup - IntronicInsertion - 2/19 1
2-178858101-A-T c.1071+20928T>A - IntronicSNV - 2/19 1
2-178859118-A-G c.1071+19911T>C - IntronicSNV - 2/19 2
2-178859535-CT-C c.1071+19493del - IntronicDeletion - 2/19 1
2-178860578-C-A c.1071+18451G>T - IntronicSNV - 2/19 1
2-178861614-A-G c.1071+17415T>C - IntronicSNV - 2/19 1
2-178861725-C-T c.1071+17304G>A - IntronicSNV - 2/19 1
2-178861750-T-C c.1071+17279A>G - IntronicSNV - 2/19 1
2-178862460-A-C c.1071+16569T>G - IntronicSNV - 2/19 2
2-178862673-C-T c.1071+16356G>A - IntronicSNV - 2/19 2
2-178862711-C-A c.1071+16318G>T - IntronicSNV - 2/19 1
2-178863053-C-T c.1071+15976G>A - IntronicSNV - 2/19 1
2-178863066-C-T c.1071+15963G>A - IntronicSNV - 2/19 1
2-178863084-G-A c.1071+15945C>T - IntronicSNV - 2/19 1
2-178863260-G-A c.1071+15769C>T - IntronicSNV - 2/19 2
2-178863371-G-A c.1071+15658C>T - IntronicSNV - 2/19 1
2-178871446-C-T c.1071+7583G>A - IntronicSNV - 2/19 1
2-178872422-C-T c.1071+6607G>A - IntronicSNV - 2/19 1
2-178874140-T-C c.1071+4889A>G - IntronicSNV - 2/19 1
2-178875602-G-A c.1071+3427C>T - IntronicSNV - 2/19 1
2-178877084-G-A c.1071+1945C>T - IntronicSNV - 2/19 1
2-178877357-C-A c.1071+1672G>T - IntronicSNV - 2/19 1
2-178878845-A-T c.1071+184T>A - IntronicSNV - 2/19 1
2-178879018-T-C c.1071+11A>G - IntronicSNV - 2/19 1
2-178879029-T-G c.1071A>C p.K357N Missense 2/20 - 2
2-178879031-T-G c.1069A>C p.K357Q Missense 2/20 - 1
2-178879034-C-A c.1066G>T p.E356* Nonsense 2/20 - 3
2-178879034-C-T c.1066G>A p.E356K Missense 2/20 - 1
2-178879037-C-T c.1063G>A p.D355N Missense 2/20 - 1
2-178879038-A-T c.1062T>A p.D354E Missense 2/20 - 1
2-178879046-T-G c.1054A>C p.T352P Missense 2/20 - 1
2-178879055-C-T c.1045G>A p.A349T Missense 2/20 - 11
2-178879056-T-A c.1044A>T p.G348= Synonymous 2/20 - 2
2-178879064-G-A c.1036C>T p.P346S Missense 2/20 - 1
2-178879066-A-G c.1034T>C p.I345T Missense 2/20 - 2
2-178879069-T-C c.1031A>G p.K344R Missense 2/20 - 1
2-178879077-C-A c.1023G>T p.A341= Synonymous 2/20 - 2
2-178879077-C-G c.1023G>C p.A341= Synonymous 2/20 - 2
2-178879077-C-T c.1023G>A p.A341= Synonymous 2/20 - 7
2-178879078-G-A c.1022C>T p.A341V Missense 2/20 - 8
2-178879078-G-T c.1022C>A p.A341E Missense 2/20 - 1
2-178879081-T-C c.1019A>G p.Q340R Missense 2/20 - 1
2-178879082-G-A c.1018C>T p.Q340* Nonsense 2/20 - 1
2-178879083-G-T c.1017C>A p.A339= Synonymous 2/20 - 1
2-178879086-C-A c.1014G>T p.V338= Synonymous 2/20 - 2
2-178879089-A-C c.1011T>G p.G337= Synonymous 2/20 - 2
2-178879089-A-G c.1011T>C p.G337= Synonymous 2/20 - 3
2-178879089-A-T c.1011T>A p.G337= Synonymous 2/20 - 2
2-178879098-C-T c.1002G>A p.E334= Synonymous 2/20 - 2
2-178879098-TCTC-T c.1000_1002del p.E334del InFrameDeletion 2/20 - 1
2-178879100-C-A c.1000G>T p.E334* Nonsense 2/20 - 1
2-178879100-C-T c.1000G>A p.E334K Missense 2/20 - 2
2-178879103-C-A c.997G>T p.G333C Missense 2/20 - 1
2-178879109-T-A c.991A>T p.S331C Missense 2/20 - 1
2-178879111-C-T c.989G>A p.S330N Missense 2/20 - 2
2-178879113-TCG-ACA c.985_987delinsTGT p.R329C Missense 2/20 - 1
2-178879114-C-T c.986G>A p.R329Q Missense 2/20 - 3
2-178879115-G-A c.985C>T p.R329* Nonsense 2/20 - 7
2-178879120-G-A c.980C>T p.P327L Missense 2/20 - 2
2-178879120-G-T c.980C>A p.P327H Missense 2/20 - 1
2-178879121-G-A c.979C>T p.P327S Missense 2/20 - 3
2-178879125-G-A c.975C>T p.C325= Synonymous 2/20 - 2
2-178879125-G-T c.975C>A p.C325* Nonsense 2/20 - 1
2-178879133-A-C c.967T>G p.L323V Missense 2/20 - 1
2-178879135-G-T c.965C>A p.S322* Nonsense 2/20 - 1
2-178879139-T-C c.961A>G p.K321E Missense 2/20 - 1
2-178879143-C-A c.957G>T p.K319N Missense 2/20 - 3
2-178879143-C-G c.957G>C p.K319N Missense 2/20 - 2
2-178879144-T-C c.956A>G p.K319R Missense 2/20 - 1
2-178879150-C-G c.950G>C p.G317A Missense 2/20 - 3
2-178879150-C-T c.950G>A p.G317E Missense 2/20 - 1
2-178879152-AG-CA c.947_948delinsTG p.T316M Missense 2/20 - 1
2-178879160-TTGTCG-T c.936_940del p.D313Afs*18 Frameshift 2/20 - 2
2-178879163-C-A c.937G>T p.D313Y Missense 2/20 - 1
2-178879163-C-T c.937G>A p.D313N Missense 2/20 - 7
2-178879161-GTCGATT-G c.933_938del p.E311_I312del InFrameDeletion 2/20 - 2
2-178879164-G-A c.936C>T p.I312= Synonymous 2/20 - 7
2-178879164-G-T c.936C>A p.I312= Synonymous 2/20 - 2
2-178879165-A-G c.935T>C p.I312T Missense 2/20 - 1
2-178879165-A-T c.935T>A p.I312N Missense 2/20 - 1
2-178879166-T-C c.934A>G p.I312V Missense 2/20 - 1
2-178879169-C-A c.931G>T p.E311* Nonsense 2/20 - 1
2-178879172-C-T c.928G>A p.D310N Missense 2/20 - 4
2-178879178-A-C c.922T>G p.F308V Missense 2/20 - 1
2-178879178-A-G c.922T>C p.F308L Missense 2/20 - 3
2-178879180-C-A c.920G>T p.R307L Missense 2/20 - 1
2-178879181-G-A c.919C>T p.R307* Nonsense 2/20 - 49
2-178879182-T-C c.918A>G p.R306= Synonymous 2/20 - 1
2-178879182-T-G c.918A>C p.R306= Synonymous 2/20 - 1
2-178879183-C-A c.917G>T p.R306L Missense 2/20 - 2
2-178879183-C-T c.917G>A p.R306Q Missense 2/20 - 2
2-178879184-G-A c.916C>T p.R306* Nonsense 2/20 - 2
2-178879186-T-G c.914A>C p.D305A Missense 2/20 - 2
2-178879187-C-A c.913G>T p.D305Y Missense 2/20 - 2
2-178879187-C-T c.913G>A p.D305N Missense 2/20 - 3
2-178879470-T-C c.913-283A>G - IntronicSNV - 1/19 2
2-178883104-A-G c.913-3917T>C - IntronicSNV - 1/19 1
2-178886150-C-A c.913-6963G>T - IntronicSNV - 1/19 1
2-178887259-T-C c.913-8072A>G - IntronicSNV - 1/19 1
2-178890529-T-A c.913-11342A>T - IntronicSNV - 1/19 1
2-178890529-T-C c.913-11342A>G - IntronicSNV - 1/19 1
2-178890529-T-G c.913-11342A>C - IntronicSNV - 1/19 1
2-178898906-A-C c.913-19719T>G - IntronicSNV - 1/19 1
2-178911314-G-C c.912+24939C>G - IntronicSNV - 1/19 1
2-178914947-G-A c.912+21306C>T - IntronicSNV - 1/19 1
2-178919508-A-G c.912+16745T>C - IntronicSNV - 1/19 1
2-178920599-A-T c.912+15654T>A - IntronicSNV - 1/19 1
2-178921642-G-A c.912+14611C>T - IntronicSNV - 1/19 1
2-178921872-G-GT c.912+14380dup - IntronicInsertion - 1/19 1
2-178929571-CT-C c.912+6681del - IntronicDeletion - 1/19 1
2-178929639-T-A c.912+6614A>T - IntronicSNV - 1/19 1
2-178930041-A-T c.912+6212T>A - IntronicSNV - 1/19 1
2-178932960-T-G c.912+3293A>C - IntronicSNV - 1/19 1
2-178932961-T-G c.912+3292A>C - IntronicSNV - 1/19 1
2-178934149-G-T c.912+2104C>A - IntronicSNV - 1/19 1
2-178935837-C-G c.912+416G>C - IntronicSNV - 1/19 1
2-178935837-C-T c.912+416G>A - IntronicSNV - 1/19 1
2-178936157-C-A c.912+96G>T - IntronicSNV - 1/19 1
2-178936225-G-T c.912+28C>A - IntronicSNV - 1/19 1
2-178936253-C-A c.912G>T p.Q304H Missense 1/20 - 1
2-178936253-C-G c.912G>C p.Q304H Missense 1/20 - 1
2-178936253-C-T c.912G>A p.Q304= Synonymous 1/20 - 1
2-178936255-G-A c.910C>T p.Q304* Nonsense 1/20 - 1
2-178936255-G-T c.910C>A p.Q304K Missense 1/20 - 1
2-178936256-G-T c.909C>A p.Y303* Nonsense 1/20 - 1
2-178936257-T-C c.908A>G p.Y303C Missense 1/20 - 1
2-178936259-G-A c.906C>T p.A302= Synonymous 1/20 - 2
2-178936263-T-C c.902A>G p.D301G Missense 1/20 - 1
2-178936264-C-G c.901G>C p.D301H Missense 1/20 - 1
2-178936272-T-C c.893A>G p.N298S Missense 1/20 - 8
2-178936276-C-T c.889G>A p.V297I Missense 1/20 - 1
2-178936277-C-A c.888G>T p.T296= Synonymous 1/20 - 1
2-178936277-C-G c.888G>C p.T296= Synonymous 1/20 - 1
2-178936277-C-T c.888G>A p.T296= Synonymous 1/20 - 1
2-178936278-G-A c.887C>T p.T296M Missense 1/20 - 1
2-178936278-G-T c.887C>A p.T296K Missense 1/20 - 2
2-178936285-C-G c.880G>C p.G294R Missense 1/20 - 2
2-178936289-C-A c.876G>T p.E292D Missense 1/20 - 1
2-178936289-C-G c.876G>C p.E292D Missense 1/20 - 1
2-178936291-C-A c.874G>T p.E292* Nonsense 1/20 - 1
2-178936293-C-A c.872G>T p.G291V Missense 1/20 - 3
2-178936290-TC-T c.874del p.E292Sfs*24 Frameshift 1/20 - 1
2-178936294-C-G c.871G>C p.G291R Missense 1/20 - 3
2-178936294-C-T c.871G>A p.G291R Missense 1/20 - 2
2-178936297-C-T c.868G>A p.V290I Missense 1/20 - 2
2-178936304-A-G c.861T>C p.I287= Synonymous 1/20 - 3
2-178936304-A-T c.861T>A p.I287= Synonymous 1/20 - 2
2-178936311-C-T c.854G>A p.G285D Missense 1/20 - 1
2-178936316-GC-CT c.848_849delinsAG p.G283E Missense 1/20 - 1
2-178936319-C-A c.846G>T p.W282C Missense 1/20 - 1
2-178936322-G-T c.843C>A p.P281= Synonymous 1/20 - 1
2-178936323-G-A c.842C>T p.P281L Missense 1/20 - 3
2-178936325-G-A c.840C>T p.V280= Synonymous 1/20 - 2
2-178936325-GAC-CAT c.838_840delinsATG p.V280M Missense 1/20 - 1
2-178936327-C-T c.838G>A p.V280I Missense 1/20 - 1
2-178936328-C-A c.837G>T p.Q279H Missense 1/20 - 4
2-178936328-C-G c.837G>C p.Q279H Missense 1/20 - 3
2-178936328-C-T c.837G>A p.Q279= Synonymous 1/20 - 1
2-178936330-G-C c.835C>G p.Q279E Missense 1/20 - 1
2-178936331-C-A c.834G>T p.V278= Synonymous 1/20 - 1
2-178936332-A-T c.833T>A p.V278E Missense 1/20 - 1
2-178936333-C-A c.832G>T p.V278L Missense 1/20 - 1
2-178936336-C-T c.829G>A p.E277K Missense 1/20 - 2
2-178936341-G-T c.824C>A p.S275* Nonsense 1/20 - 1
2-178936343-G-T c.822C>A p.N274K Missense 1/20 - 2
2-178936346-C-A c.819G>T p.E273D Missense 1/20 - 5
2-178936346-C-G c.819G>C p.E273D Missense 1/20 - 3
2-178936348-C-G c.817G>C p.E273Q Missense 1/20 - 1
2-178936354-T-A c.811A>T p.S271C Missense 1/20 - 1
2-178936358-G-T c.807C>A p.C269* Nonsense 1/20 - 2
2-178936362-G-A c.803C>T p.P268L Missense 1/20 - 1
2-178936366-G-A c.799C>T p.L267= Synonymous 1/20 - 2
2-178936367-C-A c.798G>T p.L266= Synonymous 1/20 - 1
2-178936367-C-G c.798G>C p.L266= Synonymous 1/20 - 2
2-178936367-C-T c.798G>A p.L266= Synonymous 1/20 - 1
2-178936369-G-A c.796C>T p.L266= Synonymous 1/20 - 2
2-178936371-G-A c.794C>T p.P265L Missense 1/20 - 2
2-178936373-T-A c.792A>T p.T264= Synonymous 1/20 - 17
2-178936373-T-C c.792A>G p.T264= Synonymous 1/20 - 17
2-178936373-T-G c.792A>C p.T264= Synonymous 1/20 - 22
2-178936374-G-A c.791C>T p.T264I Missense 1/20 - 1
2-178936383-T-C c.782A>G p.H261R Missense 1/20 - 4
2-178936384-G-A c.781C>T p.H261Y Missense 1/20 - 1
2-178936390-C-G c.775G>C p.D259H Missense 1/20 - 2
2-178936390-C-T c.775G>A p.D259N Missense 1/20 - 2
2-178936392-A-T c.773T>A p.F258Y Missense 1/20 - 5
2-178936394-G-T c.771C>A p.F257L Missense 1/20 - 2
2-178936394-G-C c.771C>G p.F257L Missense 1/20 - 1
2-178936396-A-G c.769T>C p.F257L Missense 1/20 - 1
2-178936397-T-G c.768A>C p.K256N Missense 1/20 - 1
2-178936399-T-A c.766A>T p.K256* Nonsense 1/20 - 2
2-178936411-T-C c.754A>G p.T252A Missense 1/20 - 1
2-178936412-C-A c.753G>T p.K251N Missense 1/20 - 2
2-178936412-C-G c.753G>C p.K251N Missense 1/20 - 1
2-178936413-T-G c.752A>C p.K251T Missense 1/20 - 1
2-178936419-C-T c.746G>A p.G249D Missense 1/20 - 1
2-178936420-C-A c.745G>T p.G249C Missense 1/20 - 1
2-178936422-G-T c.743C>A p.A248D Missense 1/20 - 1
2-178936423-C-T c.742G>A p.A248T Missense 1/20 - 1
2-178936429-C-T c.736G>A p.A246T Missense 1/20 - 1
2-178936433-T-C c.732A>G p.E244= Synonymous 1/20 - 1
2-178936438-C-T c.727G>A p.V243M Missense 1/20 - 1
2-178936441-G-C c.724C>G p.L242V Missense 1/20 - 1
2-178936449-GA-TT c.715_716delinsAA p.S239N Missense 1/20 - 1
2-178936450-A-G c.715T>C p.S239P Missense 1/20 - 4
2-178936451-G-A c.714C>T p.C238= Synonymous 1/20 - 4
2-178936453-A-G c.712T>C p.C238R Missense 1/20 - 1
2-178936455-C-T c.710G>A p.R237H Missense 1/20 - 1
2-178936457-G-T c.708C>A p.D236E Missense 1/20 - 1
2-178936459-C-G c.706G>C p.D236H Missense 1/20 - 3
2-178936462-C-A c.703G>T p.A235S Missense 1/20 - 1
2-178936465-C-G c.700G>C p.D234H Missense 1/20 - 2
2-178936465-C-T c.700G>A p.D234N Missense 1/20 - 2
2-178936466-C-G c.699G>C p.V233= Synonymous 1/20 - 1
2-178936471-T-TA c.693dup p.M232Yfs*5 Frameshift 1/20 - 1
2-178936473-A-G c.692T>C p.L231P Missense 1/20 - 1
2-178936474-G-C c.691C>G p.L231V Missense 1/20 - 2
2-178936475-G-A c.690C>T p.C230= Synonymous 1/20 - 6
2-178936475-G-T c.690C>A p.C230* Nonsense 1/20 - 1
2-178936475-GCAGA-G c.686_689del p.V229Afs*86 Frameshift 1/20 - 1
2-178936480-C-T c.685G>A p.V229I Missense 1/20 - 6
2-178936485-A-G c.680T>C p.I227T Missense 1/20 - 1
2-178936489-G-A c.676C>T p.L226F Missense 1/20 - 1
2-178936489-G-C c.676C>G p.L226V Missense 1/20 - 1
2-178936500-C-G c.665G>C p.S222T Missense 1/20 - 1
2-178936500-C-T c.665G>A p.S222N Missense 1/20 - 1
2-178936505-G-A c.660C>T p.S220= Synonymous 1/20 - 3
2-178936508-GG-CA c.656_657delinsTG p.T219M Missense 1/20 - 1
2-178936511-G-A c.654C>T p.L218= Synonymous 1/20 - 1
2-178936511-G-C c.654C>G p.L218= Synonymous 1/20 - 1
2-178936511-G-T c.654C>A p.L218= Synonymous 1/20 - 1
2-178936513-G-A c.652C>T p.L218F Missense 1/20 - 4
2-178936513-G-C c.652C>G p.L218V Missense 1/20 - 1
2-178936513-G-T c.652C>A p.L218I Missense 1/20 - 1
2-178936515-T-C c.650A>G p.D217G Missense 1/20 - 1
2-178936515-T-G c.650A>C p.D217A Missense 1/20 - 1
2-178936519-G-A c.646C>T p.L216F Missense 1/20 - 5
2-178936521-T-C c.644A>G p.D215G Missense 1/20 - 1
2-178936526-GG-TT c.638_639delinsAA p.S213* Nonsense 1/20 - 1
2-178936528-A-G c.637T>C p.S213P Missense 1/20 - 1
2-178936529-G-A c.636C>T p.I212= Synonymous 1/20 - 1
2-178936532-A-G c.633T>C p.D211= Synonymous 1/20 - 2
2-178936534-C-T c.631G>A p.D211N Missense 1/20 - 1
2-178936539-A-C c.626T>G p.V209G Missense 1/20 - 2
2-178936540-C-T c.625G>A p.V209I Missense 1/20 - 1
2-178936550-A-C c.615T>G p.F205L Missense 1/20 - 1
2-178936550-A-T c.615T>A p.F205L Missense 1/20 - 1
2-178936552-A-G c.613T>C p.F205L Missense 1/20 - 2
2-178936554-A-G c.611T>C p.F204S Missense 1/20 - 1
2-178936553-G-C c.612C>G p.F204L Missense 1/20 - 1
2-178936553-G-T c.612C>A p.F204L Missense 1/20 - 1
2-178936555-A-G c.610T>C p.F204L Missense 1/20 - 1
2-178936556-C-T c.609G>A p.Q203= Synonymous 1/20 - 1
2-178936560-C-T c.605G>A p.R202H Missense 1/20 - 6
2-178936561-G-A c.604C>T p.R202C Missense 1/20 - 10
2-178936561-G-T c.604C>A p.R202S Missense 1/20 - 2
2-178936566-T-C c.599A>G p.N200S Missense 1/20 - 1
2-178936567-T-C c.598A>G p.N200D Missense 1/20 - 1
2-178936568-A-G c.597T>C p.H199= Synonymous 1/20 - 1
2-178936570-G-T c.595C>A p.H199N Missense 1/20 - 3
2-178936571-C-T c.594G>A p.K198= Synonymous 1/20 - 1
2-178936573-T-TA c.591_592insT p.K198* Nonsense 1/20 - 1
2-178936577-C-T c.588G>A p.L196= Synonymous 1/20 - 2
2-178936583-G-A c.582C>T p.C194= Synonymous 1/20 - 2
2-178936592-G-A c.573C>T p.D191= Synonymous 1/20 - 1
2-178936594-C-T c.571G>A p.D191N Missense 1/20 - 1
2-178936600-C-T c.565G>A p.A189T Missense 1/20 - 2
2-178936601-T-C c.564A>G p.T188= Synonymous 1/20 - 1
2-178936602-G-A c.563C>T p.T188I Missense 1/20 - 1
2-178936603-T-A c.562A>T p.T188S Missense 1/20 - 1
2-178936606-G-A c.559C>T p.P187S Missense 1/20 - 1
2-178936608-G-A c.557C>T p.P186L Missense 1/20 - 2
2-178936614-C-G c.551G>C p.R184P Missense 1/20 - 7
2-178936614-C-T c.551G>A p.R184Q Missense 1/20 - 38
2-178936615-G-A c.550C>T p.R184W Missense 1/20 - 2
2-178936617-G-A c.548C>T p.P183L Missense 1/20 - 1
2-178936618-G-T c.547C>A p.P183T Missense 1/20 - 1
2-178936619-C-A c.546G>T p.L182= Synonymous 1/20 - 1
2-178936619-CAG-GAT c.544_546delinsATC p.L182I Missense 1/20 - 1
2-178936619-C-G c.546G>C p.L182= Synonymous 1/20 - 1
2-178936619-C-T c.546G>A p.L182= Synonymous 1/20 - 1
2-178936621-G-A c.544C>T p.L182= Synonymous 1/20 - 1
2-178936624-T-A c.541A>T p.N181Y Missense 1/20 - 1
2-178936625-C-A c.540G>T p.V180= Synonymous 1/20 - 2
2-178936625-C-G c.540G>C p.V180= Synonymous 1/20 - 2
2-178936625-C-T c.540G>A p.V180= Synonymous 1/20 - 2
2-178936623-TTCACTC-T c.536_541del p.R179_V180del InFrameDeletion 1/20 - 1
2-178936631-C-T c.534G>A p.S178= Synonymous 1/20 - 3
2-178936632-G-A c.533C>T p.S178L Missense 1/20 - 5
2-178936634-T-C c.531A>G p.E177= Synonymous 1/20 - 1
2-178936635-T-G c.530A>C p.E177A Missense 1/20 - 2
2-178936638-A-T c.527T>A p.L176Q Missense 1/20 - 2
2-178936644-G-A c.521C>T p.A174V Missense 1/20 - 1
2-178936646-A-C c.519T>G p.S173R Missense 1/20 - 1
2-178936646-A-T c.519T>A p.S173R Missense 1/20 - 1
2-178936648-T-G c.517A>C p.S173R Missense 1/20 - 1
2-178936649-G-A c.516C>T p.L172= Synonymous 1/20 - 1
2-178936649-G-C c.516C>G p.L172= Synonymous 1/20 - 1
2-178936649-G-T c.516C>A p.L172= Synonymous 1/20 - 1
2-178936651-G-A c.514C>T p.L172F Missense 1/20 - 2
2-178936654-T-A c.511A>T p.I171F Missense 1/20 - 1
2-178936654-T-C c.511A>G p.I171V Missense 1/20 - 5
2-178936655-A-G c.510T>C p.H170= Synonymous 1/20 - 2
2-178936659-G-A c.506C>T p.A169V Missense 1/20 - 1
2-178936660-C-T c.505G>A p.A169T Missense 1/20 - 1
2-178936666-GT-G c.499del p.T167Pfs*14 Frameshift 1/20 - 2
2-178936667-G-A c.498C>T p.P166= Synonymous 1/20 - 1
2-178936667-G-C c.498C>G p.P166= Synonymous 1/20 - 1
2-178936667-G-T c.498C>A p.P166= Synonymous 1/20 - 1
2-178936668-G-A c.497C>T p.P166L Missense 1/20 - 7
2-178936668-G-T c.497C>A p.P166H Missense 1/20 - 1
2-178936669-G-A c.496C>T p.P166S Missense 1/20 - 6
2-178936670-G-C c.495C>G p.P165= Synonymous 1/20 - 1
2-178936671-G-A c.494C>T p.P165L Missense 1/20 - 3
2-178936671-G-GAGGGCTCACACCTGTTAAAATCCAGCACAGTGTGGA c.493_494insTCCACACTGTGCTGGATTTTAACAGGTGTGAGCCCT p.P165delinsLHTVLDFNRCEPS MultiAAMissense 1/20 - 1
2-178936666-TG-T c.498del p.T167Pfs*14 Frameshift 1/20 - 3
2-178936666-T-TG c.498dup p.T167Hfs*34 Frameshift 1/20 - 2
2-178936672-G-T c.493C>A p.P165T Missense 1/20 - 1
2-178936673-C-T c.492G>A p.L164= Synonymous 1/20 - 1
2-178936677-G-A c.488C>T p.S163F Missense 1/20 - 4
2-178936680-CT-GC c.484_485delinsGC p.S162A Missense 1/20 - 1
2-178936680-CT-TC c.484_485delinsGA p.S162D Missense 1/20 - 2
2-178936681-T-C c.484A>G p.S162G Missense 1/20 - 4
2-178936684-C-T c.481G>A p.A161T Missense 1/20 - 1
2-178936685-C-T c.480G>A p.K160= Synonymous 1/20 - 1
2-178936687-T-C c.478A>G p.K160E Missense 1/20 - 1
2-178936688-C-T c.477G>A p.R159= Synonymous 1/20 - 1
2-178936689-C-T c.476G>A p.R159Q Missense 1/20 - 5
2-178936690-G-A c.475C>T p.R159W Missense 1/20 - 4
2-178936691-G-A c.474C>T p.L158= Synonymous 1/20 - 1
2-178936692-A-T c.473T>A p.L158H Missense 1/20 - 2
2-178936695-A-T c.470T>A p.L157H Missense 1/20 - 3
2-178936698-G-A c.467C>T p.A156V Missense 1/20 - 4
2-178936698-G-C c.467C>G p.A156G Missense 1/20 - 1
2-178936700-C-T c.465G>A p.R155= Synonymous 1/20 - 1
2-178936704-C-A c.461G>T p.R154L Missense 1/20 - 1
2-178936704-CG-TT c.460_461delinsAA p.R154K Missense 1/20 - 1
2-178936705-G-A c.460C>T p.R154W Missense 1/20 - 2
2-178936706-TCG-CCA c.457_459delinsTGG p.R153W Missense 1/20 - 1
2-178936708-G-A c.457C>T p.R153* Nonsense 1/20 - 7
2-178936711-C-A c.454G>T p.V152L Missense 1/20 - 1
2-178936713-C-T c.452G>A p.S151N Missense 1/20 - 1
2-178936714-T-A c.451A>T p.S151C Missense 1/20 - 1
2-178936715-A-C c.450T>G p.S150R Missense 1/20 - 1
2-178936717-T-C c.448A>G p.S150G Missense 1/20 - 1
2-178936721-G-A c.444C>T p.P148= Synonymous 1/20 - 1
2-178936721-G-C c.444C>G p.P148= Synonymous 1/20 - 1
2-178936721-G-T c.444C>A p.P148= Synonymous 1/20 - 1
2-178936722-G-A c.443C>T p.P148L Missense 1/20 - 1
2-178936724-T-C c.441A>G p.E147= Synonymous 1/20 - 1
2-178936726-C-CA c.438_439insT p.E147* Nonsense 1/20 - 1
2-178936730-A-C c.435T>G p.A145= Synonymous 1/20 - 1
2-178936730-A-G c.435T>C p.A145= Synonymous 1/20 - 2
2-178936730-A-T c.435T>A p.A145= Synonymous 1/20 - 1
2-178936731-G-C c.434C>G p.A145G Missense 1/20 - 1
2-178936734-C-A c.431G>T p.R144L Missense 1/20 - 1
2-178936737-GA-AT c.427_428delinsAT p.S143I Missense 1/20 - 1
2-178936740-G-A c.425C>T p.T142I Missense 1/20 - 1
2-178936742-C-T c.423G>A p.V141= Synonymous 1/20 - 1
2-178936743-A-C c.422T>G p.V141G Missense 1/20 - 1
2-178936744-C-A c.421G>T p.V141L Missense 1/20 - 1
2-178936744-C-G c.421G>C p.V141L Missense 1/20 - 1
2-178936747-G-A c.418C>T p.Q140* Nonsense 1/20 - 2
2-178936750-C-A c.415G>T p.E139* Nonsense 1/20 - 1
2-178936750-C-T c.415G>A p.E139K Missense 1/20 - 1
2-178936753-C-T c.412G>A p.D138N Missense 1/20 - 1
2-178936754-G-A c.411C>T p.Y137= Synonymous 1/20 - 1
2-178936754-G-C c.411C>G p.Y137* Nonsense 1/20 - 1
2-178936754-G-T c.411C>A p.Y137* Nonsense 1/20 - 1
2-178936758-G-A c.407C>T p.T136I Missense 1/20 - 1
2-178936760-CC-GA c.404_405delinsTC p.R135I Missense 1/20 - 1
2-178936760-CCT-ACA c.403_405delinsTGT p.R135C Missense 1/20 - 1
2-178936760-C-T c.405G>A p.R135= Synonymous 1/20 - 1
2-178936762-T-G c.403A>C p.R135= Synonymous 1/20 - 1
2-178936761-C-A c.404G>T p.R135M Missense 1/20 - 1
2-178936761-C-T c.404G>A p.R135K Missense 1/20 - 2
2-178936768-C-T c.397G>A p.V133M Missense 1/20 - 1
2-178936769-G-A c.396C>T p.H132= Synonymous 1/20 - 3
2-178936771-G-A c.394C>T p.H132Y Missense 1/20 - 3
2-178936772-G-A c.393C>T p.I131= Synonymous 1/20 - 1
2-178936772-G-T c.393C>A p.I131= Synonymous 1/20 - 1
2-178936775-G-A c.390C>T p.A130= Synonymous 1/20 - 1
2-178936775-G-C c.390C>G p.A130= Synonymous 1/20 - 1
2-178936775-G-T c.390C>A p.A130= Synonymous 1/20 - 2
2-178936777-C-T c.388G>A p.A130T Missense 1/20 - 1
2-178936778-C-T c.387G>A p.K129= Synonymous 1/20 - 1
2-178936779-T-A c.386A>T p.K129M Missense 1/20 - 1
2-178936780-T-G c.385A>C p.K129Q Missense 1/20 - 1
2-178936786-G-A c.379C>T p.R127C Missense 1/20 - 2
2-178936788-G-A c.377C>T p.A126V Missense 1/20 - 2
2-178936789-C-G c.376G>C p.A126P Missense 1/20 - 1
2-178936793-A-G c.372T>C p.S124= Synonymous 1/20 - 1
2-178936794-C-T c.371G>A p.S124N Missense 1/20 - 4
2-178936794-CT-GC c.370_371delinsGC p.S124A Missense 1/20 - 1
2-178936794-CT-TC c.370_371delinsGA p.S124D Missense 1/20 - 2
2-178936796-C-A c.369G>T p.K123N Missense 1/20 - 1
2-178936796-C-G c.369G>C p.K123N Missense 1/20 - 1
2-178936799-C-T c.366G>A p.R122= Synonymous 1/20 - 3
2-178936801-T-G c.364A>C p.R122= Synonymous 1/20 - 1
2-178936802-T-A c.363A>T p.L121= Synonymous 1/20 - 1
2-178936802-T-C c.363A>G p.L121= Synonymous 1/20 - 1
2-178936803-A-G c.362T>C p.L121P Missense 1/20 - 1
2-178936805-GCTC-G c.358_360del p.E120del InFrameDeletion 1/20 - 1
2-178936806-T-A c.359A>T p.E120V Missense 1/20 - 1
2-178936809-T-A c.356A>T p.K119I Missense 1/20 - 5
2-178936811-C-T c.354G>A p.Q118= Synonymous 1/20 - 1
2-178936814-A-C c.351T>G p.S117= Synonymous 1/20 - 2
2-178936814-A-G c.351T>C p.S117= Synonymous 1/20 - 3
2-178936814-A-T c.351T>A p.S117= Synonymous 1/20 - 2
2-178936815-GA-TC c.349_350inv p.S117D Missense 1/20 - 2
2-178936816-A-C c.349T>G p.S117A Missense 1/20 - 2
2-178936818-G-A c.347C>T p.A116V Missense 1/20 - 1
2-178936820-T-A c.345A>T p.R115S Missense 1/20 - 1
2-178936820-T-G c.345A>C p.R115S Missense 1/20 - 1
2-178936824-C-T c.341G>A p.R114Q Missense 1/20 - 1
2-178936827-T-TGGA c.337_338insTCC p.L112dup InFrameInsertion 1/20 - 1
2-178936828-G-A c.337C>T p.Q113* Nonsense 1/20 - 1
2-178936836-CC-TT c.328_329delinsAA p.G110K Missense 1/20 - 1
2-178936836-C-T c.329G>A p.G110E Missense 1/20 - 2
2-178936837-C-G c.328G>C p.G110R Missense 1/20 - 1
2-178936837-C-T c.328G>A p.G110R Missense 1/20 - 2
2-178936840-C-T c.325G>A p.D109N Missense 1/20 - 1
2-178936841-G-A c.324C>T p.G108= Synonymous 1/20 - 1
2-178936841-G-C c.324C>G p.G108= Synonymous 1/20 - 1
2-178936841-G-T c.324C>A p.G108= Synonymous 1/20 - 1
2-178936844-C-A c.321G>T p.R107S Missense 1/20 - 1
2-178936844-C-T c.321G>A p.R107= Synonymous 1/20 - 1
2-178936845-C-A c.320G>T p.R107M Missense 1/20 - 1
2-178936845-CT-AG c.319_320inv p.R107L Missense 1/20 - 1
2-178936845-CT-TA c.319_320delinsTA p.R107* Nonsense 1/20 - 1
2-178936847-GCT-TCA c.316_318delinsTGA p.S106* Nonsense 1/20 - 1
2-178936848-C-T c.317G>A p.S106N Missense 1/20 - 1
2-178936848-CT-AG c.316_317inv p.S106L Missense 1/20 - 2
2-178936853-A-G c.312T>C p.G104= Synonymous 1/20 - 1
2-178936855-C-A c.310G>T p.G104C Missense 1/20 - 1
2-178936855-C-G c.310G>C p.G104R Missense 1/20 - 1
2-178936855-C-T c.310G>A p.G104S Missense 1/20 - 1
2-178936856-G-A c.309C>T p.A103= Synonymous 1/20 - 1
2-178936856-G-C c.309C>G p.A103= Synonymous 1/20 - 1
2-178936856-G-T c.309C>A p.A103= Synonymous 1/20 - 1
2-178936858-C-T c.307G>A p.A103T Missense 1/20 - 2
2-178936860-C-A c.305G>T p.W102L Missense 1/20 - 1
2-178936862-G-A c.303C>T p.S101= Synonymous 1/20 - 1
2-178936867-G-A c.298C>T p.P100S Missense 1/20 - 1
2-178936869-C-G c.296G>C p.S99T Missense 1/20 - 1
2-178936876-G-A c.289C>T p.P97S Missense 1/20 - 2
2-178936884-C-T c.281G>A p.G94D Missense 1/20 - 1
2-178936887-C-T c.278G>A p.C93Y Missense 1/20 - 1
2-178936892-C-T c.273G>A p.G91= Synonymous 1/20 - 3
2-178936895-G-A c.270C>T p.G90= Synonymous 1/20 - 1
2-178936895-G-C c.270C>G p.G90= Synonymous 1/20 - 1
2-178936895-G-T c.270C>A p.G90= Synonymous 1/20 - 1
2-178936896-C-T c.269G>A p.G90D Missense 1/20 - 1
2-178936897-C-G c.268G>C p.G90R Missense 1/20 - 1
2-178936902-G-A c.263C>T p.P88L Missense 1/20 - 1
2-178936903-G-A c.262C>T p.P88S Missense 1/20 - 1
2-178936903-GA-G c.261del p.G89Vfs*10 Frameshift 1/20 - 1
2-178936907-G-A c.258C>T p.P86= Synonymous 1/20 - 1
2-178936907-G-C c.258C>G p.P86= Synonymous 1/20 - 1
2-178936907-G-T c.258C>A p.P86= Synonymous 1/20 - 2
2-178936910-C-T c.255G>A p.Q85= Synonymous 1/20 - 2
2-178936912-G-A c.253C>T p.Q85* Nonsense 1/20 - 1
2-178936920-G-A c.245C>T p.A82V Missense 1/20 - 1
2-178936920-G-T c.245C>A p.A82D Missense 1/20 - 1
2-178936926-C-A c.239G>T p.G80V Missense 1/20 - 2
2-178936927-C-G c.238G>C p.G80R Missense 1/20 - 1
2-178936927-C-T c.238G>A p.G80S Missense 1/20 - 1
2-178936929-T-A c.236A>T p.N79I Missense 1/20 - 2
2-178936933-G-A c.232C>T p.P78S Missense 1/20 - 1
2-178936939-T-A c.226A>T p.T76S Missense 1/20 - 1
2-178936943-A-AC c.221dup p.G75Wfs*65 Frameshift 1/20 - 1
2-178936945-C-T c.220G>A p.G74S Missense 1/20 - 1
2-178936948-C-A c.217G>T p.G73C Missense 1/20 - 1
2-178936951-C-T c.214G>A p.V72I Missense 1/20 - 1
2-178936959-C-T c.206G>A p.G69D Missense 1/20 - 2
2-178936961-A-G c.204T>C p.G68= Synonymous 1/20 - 1
2-178936962-C-A c.203G>T p.G68V Missense 1/20 - 1
2-178936961-A-AC c.203dup p.G69Wfs*71 Frameshift 1/20 - 1
2-178936974-C-A c.191G>T p.S64I Missense 1/20 - 1
2-178936977-GTGAGCC-G c.183_188del p.L61_H63delinsF MultiAAMissense 1/20 - 2
2-178936977-T-C c.188A>G p.H63R Missense 1/20 - 1
2-178936978-G-C c.187C>G p.H63D Missense 1/20 - 1
2-178936980-G-A c.185C>T p.A62V Missense 1/20 - 1
2-178936981-C-T c.184G>A p.A62T Missense 1/20 - 2
2-178936985-G-A c.180C>T p.S60= Synonymous 1/20 - 1
2-178936988-G-A c.177C>T p.S59= Synonymous 1/20 - 1
2-178936991-G-A c.174C>T p.T58= Synonymous 1/20 - 1
2-178936991-G-C c.174C>G p.T58= Synonymous 1/20 - 1
2-178936991-G-T c.174C>A p.T58= Synonymous 1/20 - 1
2-178936992-G-A c.173C>T p.T58I Missense 1/20 - 3
2-178936992-G-T c.173C>A p.T58N Missense 1/20 - 1
2-178936994-TA-T c.171del p.T58Pfs*41 Frameshift 1/20 - 7
2-178936995-C-CAGGGCTCACACCTGTTAAAATCCAGCACAGTGTGGA c.169_170insTCCACACTGTGCTGGATTTTAACAGGTGTGAGCCCT p.G57delinsVHTVLDFNRCEPC MultiAAMissense 1/20 - 1
2-178936995-C-T c.170G>A p.G57D Missense 1/20 - 1
2-178936998-G-A c.167C>T p.A56V Missense 1/20 - 1
2-178936999-C-T c.166G>A p.A56T Missense 1/20 - 1
2-178937002-A-C c.163T>G p.L55V Missense 1/20 - 1
2-178937004-G-A c.161C>T p.S54F Missense 1/20 - 2
2-178937003-A-AGAAGGGCTCACACCTGTTAAAATCCAGCACAGTGTG c.161_162insCACACTGTGCTGGATTTTAACAGGTGTGAGCCCTTC p.S54_L55insTLCWILTGVSPS InFrameInsertion 1/20 - 1
2-178937007-G-A c.158C>T p.P53L Missense 1/20 - 1
2-178937007-G-T c.158C>A p.P53H Missense 1/20 - 1
2-178937008-G-T c.157C>A p.P53T Missense 1/20 - 1
2-178937009-CCT-ACA c.154_156delinsTGT p.R52C Missense 1/20 - 1
2-178937010-C-A c.155G>T p.R52M Missense 1/20 - 2
2-178937010-C-G c.155G>C p.R52T Missense 1/20 - 13
2-178937012-T-A c.153A>T p.P51= Synonymous 1/20 - 1
2-178937012-T-C c.153A>G p.P51= Synonymous 1/20 - 1
2-178937012-T-G c.153A>C p.P51= Synonymous 1/20 - 1
2-178937013-G-A c.152C>T p.P51L Missense 1/20 - 1
2-178937014-G-A c.151C>T p.P51S Missense 1/20 - 1
2-178937016-C-T c.149G>A p.G50D Missense 1/20 - 1
2-178937017-C-G c.148G>C p.G50R Missense 1/20 - 1
2-178937018-T-G c.147A>C p.L49F Missense 1/20 - 2
2-178937018-T-C c.147A>G p.L49= Synonymous 1/20 - 3
2-178937020-A-G c.145T>C p.L49= Synonymous 1/20 - 2
2-178937021-A-C c.144T>G p.A48= Synonymous 1/20 - 1
2-178937021-A-G c.144T>C p.A48= Synonymous 1/20 - 1
2-178937021-A-T c.144T>A p.A48= Synonymous 1/20 - 1
2-178937022-G-A c.143C>T p.A48V Missense 1/20 - 1
2-178937023-C-A c.142G>T p.A48S Missense 1/20 - 1
2-178937026-C-G c.139G>C p.G47R Missense 1/20 - 1
2-178937026-C-T c.139G>A p.G47R Missense 1/20 - 1
2-178937028-T-G c.137A>C p.Q46P Missense 1/20 - 1
2-178937033-C-A c.132G>T p.Q44H Missense 1/20 - 1
2-178937033-C-G c.132G>C p.Q44H Missense 1/20 - 1
2-178937036-A-C c.129T>G p.S43R Missense 1/20 - 1
2-178937036-A-T c.129T>A p.S43R Missense 1/20 - 1
2-178937038-T-G c.127A>C p.S43R Missense 1/20 - 1
2-178937037-C-T c.128G>A p.S43N Missense 1/20 - 1
2-178937048-C-T c.117G>A p.L39= Synonymous 1/20 - 2
2-178937053-A-G c.112T>C p.W38R Missense 1/20 - 1
2-178937053-A-T c.112T>A p.W38R Missense 1/20 - 1
2-178937054-C-A c.111G>T p.K37N Missense 1/20 - 1
2-178937054-C-G c.111G>C p.K37N Missense 1/20 - 1
2-178937055-T-A c.110A>T p.K37M Missense 1/20 - 1
2-178937061-A-C c.104T>G p.V35G Missense 1/20 - 1
2-178937066-C-A c.99G>T p.E33D Missense 1/20 - 1
2-178937066-C-G c.99G>C p.E33D Missense 1/20 - 1
2-178937068-C-T c.97G>A p.E33K Missense 1/20 - 1
2-178937069-C-T c.96G>A p.Q32= Synonymous 1/20 - 1
2-178937077-C-A c.88G>T p.G30W Missense 1/20 - 1
2-178937081-C-T c.84G>A p.R28= Synonymous 1/20 - 1
2-178937082-C-T c.83G>A p.R28Q Missense 1/20 - 2
2-178937085-A-G c.80T>C p.M27T Missense 1/20 - 1
2-178937085-A-T c.80T>A p.M27K Missense 1/20 - 1
2-178937090-G-C c.75C>G p.Y25* Nonsense 1/20 - 1
2-178937097-T-C c.68A>G p.E23G Missense 1/20 - 1
2-178937099-A-C c.66T>G p.F22L Missense 1/20 - 1
2-178937099-A-T c.66T>A p.F22L Missense 1/20 - 1
2-178937101-A-G c.64T>C p.F22L Missense 1/20 - 1
2-178937102-C-A c.63G>T p.L21F Missense 1/20 - 1
2-178937102-C-G c.63G>C p.L21F Missense 1/20 - 1
2-178937105-C-G c.60G>C p.E20D Missense 1/20 - 1
2-178937105-C-T c.60G>A p.E20= Synonymous 1/20 - 1
2-178937107-C-T c.58G>A p.E20K Missense 1/20 - 1
2-178937110-G-A c.55C>T p.P19S Missense 1/20 - 1
2-178937111-G-C c.54C>G p.H18Q Missense 1/20 - 1
2-178937111-G-T c.54C>A p.H18Q Missense 1/20 - 1
2-178937112-T-G c.53A>C p.H18P Missense 1/20 - 1
2-178937114-CCT-ATG c.49_51delinsCAT p.R17H Missense 1/20 - 1
2-178937115-C-G c.50G>C p.R17T Missense 1/20 - 1
2-178937117-G-A c.48C>T p.D16= Synonymous 1/20 - 1
2-178937117-G-T c.48C>A p.D16E Missense 1/20 - 1
2-178937119-C-A c.46G>T p.D16Y Missense 1/20 - 1
2-178937122-G-A c.43C>T p.L15= Synonymous 1/20 - 2
2-178937123-G-T c.42C>A p.F14L Missense 1/20 - 1
2-178937127-G-A c.38C>T p.T13I Missense 1/20 - 2
2-178937127-G-T c.38C>A p.T13N Missense 1/20 - 1
2-178937129-T-A c.36A>T p.E12D Missense 1/20 - 1
2-178937129-T-G c.36A>C p.E12D Missense 1/20 - 1
2-178937134-C-T c.31G>A p.V11M Missense 1/20 - 1
2-178937137-C-T c.28G>A p.E10K Missense 1/20 - 1
2-178937138-C-T c.27G>A p.G9= Synonymous 1/20 - 1
2-178937139-C-A c.26G>T p.G9V Missense 1/20 - 1
2-178937139-CC-TA c.25_26delinsTA p.G9* Nonsense 1/20 - 2
2-178937141-A-G c.24T>C p.F8= Synonymous 1/20 - 1
2-178937141-CAAAG-C c.21_24del p.D7Efs*19 Frameshift 1/20 - 1
2-178937143-AAG-A c.21_22del p.F8Wfs*15 Frameshift 1/20 - 1
2-178937144-AGT-A c.20_21del p.D7Vfs*16 Frameshift 1/20 - 1
2-178937150-GCG-CAT c.13_15delinsATG p.R5M Missense 1/20 - 1
2-178937152-G-T c.13C>A p.R5S Missense 1/20 - 2
2-178937153-G-GTTTGTTTTTT c.11_12insAAAAAACAAA p.R5Kfs*22 Frameshift 1/20 - 1
2-178937157-G-A c.8C>T p.A3V Missense 1/20 - 1
2-178937158-C-T c.7G>A p.A3T Missense 1/20 - 1
2-178937161-C-T c.4G>A p.A2T Missense 1/20 - 3
2-178937162-C-A c.3G>T p.M1? Missense 1/20 - 1
2-178937162-C-G c.3G>C p.M1? Missense 1/20 - 1
2-178937162-C-T c.3G>A p.M1? Missense 1/20 - 1
2-178937164-T-C c.1A>G p.M1? Missense 1/20 - 1