SYNE3

SYNE3 spectrin repeat containing nuclear envelope family member 3

Annotation transcript: NM_152592.6

1169 unique variant annotations were identified in 422 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
14-95874508-C-G c.*9655G>C - IntergenicSNV 18/18 - 2
14-95875342-C-T c.*8821G>A - IntergenicSNV 18/18 - 3
14-95875480-T-C c.*8683A>G - IntergenicSNV 18/18 - 1
14-95875658-G-A c.*8505C>T - IntergenicSNV 18/18 - 1
14-95875658-G-T c.*8505C>A - IntergenicSNV 18/18 - 1
14-95875863-G-A c.*8300C>T - IntergenicSNV 18/18 - 1
14-95876097-C-G c.*8066G>C - IntergenicSNV 18/18 - 2
14-95876387-C-A c.*7776G>T - IntergenicSNV 18/18 - 1
14-95876387-C-T c.*7776G>A - IntergenicSNV 18/18 - 1
14-95877310-A-C c.*6853T>G - IntergenicSNV 18/18 - 1
14-95877310-A-T c.*6853T>A - IntergenicSNV 18/18 - 1
14-95877311-G-A c.*6852C>T - IntergenicSNV 18/18 - 1
14-95877337-G-A c.*6826C>T - IntergenicSNV 18/18 - 1
14-95877959-G-C c.*6204C>G - IntergenicSNV 18/18 - 1
14-95878007-A-C c.*6156T>G - IntergenicSNV 18/18 - 1
14-95878007-A-G c.*6156T>C - IntergenicSNV 18/18 - 1
14-95878049-T-A c.*6114A>T - IntergenicSNV 18/18 - 1
14-95878055-T-C c.*6108A>G - IntergenicSNV 18/18 - 1
14-95878115-G-C c.*6048C>G - IntergenicSNV 18/18 - 1
14-95878408-A-C c.*5755T>G - IntergenicSNV 18/18 - 2
14-95878429-G-A c.*5734C>T - IntergenicSNV 18/18 - 3
14-95878429-G-T c.*5734C>A - IntergenicSNV 18/18 - 3
14-95878467-C-T c.*5696G>A - IntergenicSNV 18/18 - 1
14-95878763-T-C c.*5400A>G - IntergenicSNV 18/18 - 1
14-95878800-C-T c.*5363G>A - IntergenicSNV 18/18 - 1
14-95878889-G-A c.*5274C>T - IntergenicSNV 18/18 - 1
14-95879022-C-A c.*5141G>T - IntergenicSNV 18/18 - 1
14-95879022-C-T c.*5141G>A - IntergenicSNV 18/18 - 1
14-95879390-C-T c.*4773G>A - IntergenicSNV 18/18 - 1
14-95879455-C-T c.*4708G>A - IntergenicSNV 18/18 - 2
14-95879563-C-T c.*4600G>A - IntergenicSNV 18/18 - 1
14-95879585-A-G c.*4578T>C - IntergenicSNV 18/18 - 1
14-95879585-A-T c.*4578T>A - IntergenicSNV 18/18 - 1
14-95879720-T-A c.*4443A>T - IntergenicSNV 18/18 - 1
14-95879720-T-C c.*4443A>G - IntergenicSNV 18/18 - 1
14-95879720-T-G c.*4443A>C - IntergenicSNV 18/18 - 1
14-95879934-T-C c.*4229A>G - IntergenicSNV 18/18 - 1
14-95880119-T-A c.*4044A>T - IntergenicSNV 18/18 - 1
14-95881613-G-GCCC c.*2547_*2549dup - UnclassifiedInsertion 18/18 - 1
14-95881613-G-GCC c.*2548_*2549dup - UnclassifiedInsertion 18/18 - 1
14-95881613-G-GC c.*2549dup - UnclassifiedInsertion 18/18 - 1
14-95881613-G-GCCCCCCCCCCCCC c.*2549_*2550insGGGGGGGGGGGGG - UnclassifiedInsertion 18/18 - 1
14-95881613-G-GCCCCCCCCCCCCCC c.*2549_*2550insGGGGGGGGGGGGGG - UnclassifiedInsertion 18/18 - 1
14-95881613-G-GCCCCCCCCCCCCCCC c.*2549_*2550insGGGGGGGGGGGGGGG - UnclassifiedInsertion 18/18 - 1
14-95881613-G-GCCCCCCCCCCCCCCCCC c.*2549_*2550insGGGGGGGGGGGGGGGGG - UnclassifiedInsertion 18/18 - 1
14-95881613-G-GCCCCCCCCCCCCCCCCCC c.*2549_*2550insGGGGGGGGGGGGGGGGGG - UnclassifiedInsertion 18/18 - 1
14-95881694-C-G c.*2469G>C - IntergenicSNV 18/18 - 1
14-95881694-C-T c.*2469G>A - IntergenicSNV 18/18 - 1
14-95882224-T-C c.*1939A>G - IntergenicSNV 18/18 - 1
14-95883464-T-C c.*699A>G - IntergenicSNV 18/18 - 1
14-95883698-G-A c.*465C>T - IntergenicSNV 18/18 - 1
14-95883698-G-C c.*465C>G - IntergenicSNV 18/18 - 1
14-95883709-G-A c.*454C>T - IntergenicSNV 18/18 - 1
14-95884164-T-A c.2927A>T p.*976Lext*7 Missense 18/18 - 2
14-95884166-G-T c.2925C>A p.T975= Synonymous 18/18 - 1
14-95884174-G-A c.2917C>T p.P973S Missense 18/18 - 3
14-95884179-C-A c.2912G>T p.G971V Missense 18/18 - 4
14-95884182-T-C c.2909A>G p.N970S Missense 18/18 - 1
14-95884188-C-A c.2903G>T p.R968L Missense 18/18 - 2
14-95884190-C-T c.2901G>A p.L967= Synonymous 18/18 - 1
14-95884199-CG-GT c.2891_2892delinsAC p.T964N Missense 18/18 - 2
14-95884200-G-A c.2891C>T p.T964M Missense 18/18 - 1
14-95884206-G-T c.2885C>A p.S962Y Missense 18/18 - 1
14-95884214-G-A c.2877C>T p.F959= Synonymous 18/18 - 5
14-95884225-C-A c.2866G>T p.A956S Missense 18/18 - 1
14-95884232-G-A c.2859C>T p.C953= Synonymous 18/18 - 1
14-95884238-G-A c.2853C>T p.R951= Synonymous 18/18 - 1
14-95884239-C-T c.2852G>A p.R951H Missense 18/18 - 1
14-95884243-C-T c.2848G>A p.D950N Missense 18/18 - 1
14-95884245-T-G c.2846A>C p.E949A Missense 18/18 - 1
14-95884249-C-T c.2842G>A p.E948K Missense 18/18 - 1
14-95884251-C-G c.2840G>C p.R947T Missense 18/18 - 1
14-95884252-T-C c.2839A>G p.R947G Missense 18/18 - 2
14-95884255-T-C c.2836A>G p.I946V Missense 18/18 - 2
14-95884258-G-T c.2833C>A p.P945T Missense 18/18 - 1
14-95884259-G-A c.2832C>T p.L944= Synonymous 18/18 - 1
14-95884259-G-C c.2832C>G p.L944= Synonymous 18/18 - 1
14-95884259-G-T c.2832C>A p.L944= Synonymous 18/18 - 1
14-95884261-G-A c.2830C>T p.L944F Missense 18/18 - 1
14-95884262-C-A c.2829G>T p.L943= Synonymous 18/18 - 1
14-95884262-C-G c.2829G>C p.L943= Synonymous 18/18 - 1
14-95884262-C-T c.2829G>A p.L943= Synonymous 18/18 - 1
14-95884264-G-A c.2827C>T p.L943= Synonymous 18/18 - 2
14-95884269-CA-C c.2822del p.L941Rfs*106 Frameshift 18/18 - 1
14-95884270-AG-A c.2821del p.L941Cfs*106 Frameshift 18/18 - 1
14-95884270-G-T c.2821C>A p.L941M Missense 18/18 - 1
14-95884271-GC-G c.2820del p.L941Cfs*106 Frameshift 18/18 - 1
14-95884274-G-T c.2817C>A p.L939= Synonymous 18/18 - 1
14-95884289-C-A c.2802G>T p.L934= Synonymous 18/18 - 1
14-95884289-C-G c.2802G>C p.L934= Synonymous 18/18 - 2
14-95884289-C-T c.2802G>A p.L934= Synonymous 18/18 - 1
14-95884291-G-A c.2800C>T p.L934= Synonymous 18/18 - 1
14-95884294-G-A c.2797C>T p.L933F Missense 18/18 - 1
14-95884311-G-A c.2780C>T p.A927V Missense 18/18 - 4
14-95884313-C-T c.2778G>A p.V926= Synonymous 18/18 - 1
14-95884322-C-A c.2769G>T p.A923= Synonymous 18/18 - 1
14-95884322-C-G c.2769G>C p.A923= Synonymous 18/18 - 1
14-95884322-C-T c.2769G>A p.A923= Synonymous 18/18 - 1
14-95884323-G-A c.2768C>T p.A923V Missense 18/18 - 33
14-95884325-C-T c.2766G>A p.R922= Synonymous 18/18 - 1
14-95884327-T-C c.2764A>G p.R922G Missense 18/18 - 3
14-95884329-C-T c.2762G>A p.R921Q Missense 18/18 - 1
14-95884330-G-A c.2761C>T p.R921W Missense 18/18 - 1
14-95884336-G-A c.2755C>T p.L919F Missense 18/18 - 1
14-95884350-C-T c.2741G>A p.R914Q Missense 18/18 - 4
14-95884351-G-T c.2740C>A p.R914= Synonymous 18/18 - 1
14-95884352-C-T c.2739G>A p.W913* Nonsense 18/18 - 1
14-95884356-C-T c.2735G>A p.R912Q Missense 18/18 - 2
14-95884357-G-A c.2734C>T p.R912W Missense 18/18 - 2
14-95884359-C-G c.2732G>C p.R911P Missense 18/18 - 1
14-95884514-G-C c.2728-151C>G - IntronicSNV - 17/17 3
14-95889102-T-A c.2728-4739A>T - IntronicSNV - 17/17 1
14-95889102-T-C c.2728-4739A>G - IntronicSNV - 17/17 1
14-95889102-T-G c.2728-4739A>C - IntronicSNV - 17/17 1
14-95893916-C-T c.2727+4500G>A - IntronicSNV - 17/17 1
14-95898240-A-G c.2727+176T>C - IntronicSNV - 17/17 3
14-95898351-C-T c.2727+65G>A - IntronicSNV - 17/17 1
14-95898422-G-A c.2721C>T p.F907= Synonymous 17/18 - 1
14-95898422-G-C c.2721C>G p.F907L Missense 17/18 - 1
14-95898425-TCC-CCA c.2716_2718delinsTGG p.G906W Missense 17/18 - 1
14-95898431-C-T c.2712G>A p.P904= Synonymous 17/18 - 2
14-95898432-G-A c.2711C>T p.P904L Missense 17/18 - 2
14-95898436-C-T c.2707G>A p.E903K Missense 17/18 - 1
14-95898444-G-T c.2699C>A p.S900Y Missense 17/18 - 1
14-95898486-G-GA c.2689-33_2689-32insT - IntronicInsertion - 16/17 4
14-95898486-G-GAA c.2689-33_2689-32insTT - IntronicInsertion - 16/17 4
14-95898486-G-GAAA c.2689-33_2689-32insTTT - IntronicInsertion - 16/17 4
14-95898487-G-A c.2689-33C>T - IntronicSNV - 16/17 7
14-95898487-G-C c.2689-33C>G - IntronicSNV - 16/17 7
14-95898488-A-G c.2689-34T>C - IntronicSNV - 16/17 1
14-95898488-A-T c.2689-34T>A - IntronicSNV - 16/17 1
14-95898607-A-G c.2689-153T>C - IntronicSNV - 16/17 4
14-95898675-G-A c.2689-221C>T - IntronicSNV - 16/17 4
14-95898810-A-G c.2689-356T>C - IntronicSNV - 16/17 1
14-95899477-T-C c.2688+120A>G - IntronicSNV - 16/17 1
14-95899598-A-G c.2687T>C p.L896P Missense 16/18 - 1
14-95899602-G-T c.2683C>A p.L895M Missense 16/18 - 1
14-95899610-G-A c.2675C>T p.S892F Missense 16/18 - 2
14-95899624-G-A c.2661C>T p.S887= Synonymous 16/18 - 1
14-95899624-G-C c.2661C>G p.S887= Synonymous 16/18 - 1
14-95899624-G-T c.2661C>A p.S887= Synonymous 16/18 - 1
14-95899625-G-A c.2660C>T p.S887F Missense 16/18 - 1
14-95899627-C-T c.2658G>A p.K886= Synonymous 16/18 - 1
14-95899631-T-C c.2654A>G p.Y885C Missense 16/18 - 4
14-95899642-C-A c.2643G>T p.Q881H Missense 16/18 - 1
14-95899642-C-G c.2643G>C p.Q881H Missense 16/18 - 1
14-95899644-G-A c.2641C>T p.Q881* Nonsense 16/18 - 1
14-95899649-C-T c.2636G>A p.R879H Missense 16/18 - 1
14-95899650-G-A c.2635C>T p.R879C Missense 16/18 - 3
14-95899658-T-G c.2627A>C p.E876A Missense 16/18 - 1
14-95899669-C-A c.2616G>T p.S872= Synonymous 16/18 - 1
14-95899669-C-G c.2616G>C p.S872= Synonymous 16/18 - 1
14-95899669-C-T c.2616G>A p.S872= Synonymous 16/18 - 4
14-95899670-G-A c.2615C>T p.S872L Missense 16/18 - 1
14-95899672-AGG-A c.2612_2613del p.T871Ifs*3 Frameshift 16/18 - 2
14-95899674-T-C c.2611A>G p.T871A Missense 16/18 - 2
14-95899679-C-A c.2606G>T p.R869M Missense 16/18 - 1
14-95899689-C-A c.2596G>T p.G866W Missense 16/18 - 1
14-95899692-G-A c.2593C>T p.L865F Missense 16/18 - 1
14-95899694-C-T c.2591G>A p.R864H Missense 16/18 - 3
14-95899695-G-A c.2590C>T p.R864C Missense 16/18 - 11
14-95899698-G-C c.2587C>G p.L863V Missense 16/18 - 1
14-95899698-G-T c.2587C>A p.L863I Missense 16/18 - 1
14-95899701-G-T c.2584C>A p.L862I Missense 16/18 - 1
14-95899702-G-A c.2583C>T p.N861= Synonymous 16/18 - 1
14-95899708-A-C c.2577T>G p.F859L Missense 16/18 - 1
14-95899728-G-A c.2557C>T p.P853S Missense 16/18 - 1
14-95899734-G-A c.2551C>T p.R851W Missense 16/18 - 5
14-95899740-C-A c.2545G>T p.E849* Nonsense 16/18 - 1
14-95899742-A-G c.2543T>C p.L848P Missense 16/18 - 1
14-95899773-C-A c.2539-27G>T - IntronicSNV - 15/17 2
14-95899773-C-T c.2539-27G>A - IntronicSNV - 15/17 2
14-95900147-G-A c.2539-401C>T - IntronicSNV - 15/17 1
14-95903027-G-A c.2538+130C>T - IntronicSNV - 15/17 3
14-95903027-G-C c.2538+130C>G - IntronicSNV - 15/17 5
14-95903027-G-T c.2538+130C>A - IntronicSNV - 15/17 3
14-95903164-T-A c.2531A>T p.K844M Missense 15/18 - 1
14-95903166-C-T c.2529G>A p.S843= Synonymous 15/18 - 1
14-95903167-G-A c.2528C>T p.S843L Missense 15/18 - 1
14-95903189-C-T c.2506G>A p.E836K Missense 15/18 - 1
14-95903198-A-AG c.2496_2497insC p.S833Lfs*4 Frameshift 15/18 - 1
14-95903203-C-A c.2492G>T p.R831I Missense 15/18 - 2
14-95903203-CT-TG c.2491_2492delinsCA p.R831Q Missense 15/18 - 1
14-95903210-C-T c.2485G>A p.A829T Missense 15/18 - 4
14-95903211-G-C c.2484C>G p.I828M Missense 15/18 - 6
14-95903214-G-A c.2481C>T p.I827= Synonymous 15/18 - 2
14-95903224-A-C c.2471T>G p.L824R Missense 15/18 - 1
14-95903226-C-A c.2469G>T p.K823N Missense 15/18 - 1
14-95903226-C-G c.2469G>C p.K823N Missense 15/18 - 1
14-95903227-T-C c.2468A>G p.K823R Missense 15/18 - 1
14-95903232-G-T c.2463C>A p.N821K Missense 15/18 - 1
14-95903233-T-G c.2462A>C p.N821T Missense 15/18 - 1
14-95903232-GT-G c.2462del p.N821Tfs*10 Frameshift 15/18 - 2
14-95903238-C-A c.2457G>T p.V819= Synonymous 15/18 - 1
14-95903238-C-G c.2457G>C p.V819= Synonymous 15/18 - 1
14-95903238-C-T c.2457G>A p.V819= Synonymous 15/18 - 1
14-95903243-G-T c.2452C>A p.Q818K Missense 15/18 - 2
14-95903246-A-G c.2449T>C p.L817= Synonymous 15/18 - 1
14-95903254-C-G c.2441G>C p.G814A Missense 15/18 - 2
14-95903258-A-C c.2437T>G p.F813V Missense 15/18 - 1
14-95903260-T-A c.2435A>T p.N812I Missense 15/18 - 2
14-95903265-C-G c.2430G>C p.L810= Synonymous 15/18 - 3
14-95903266-CA-C c.2429del p.L810Rfs*21 Frameshift 15/18 - 2
14-95903275-G-A c.2420C>T p.S807F Missense 15/18 - 1
14-95903275-GA-CC c.2419_2420delinsGG p.S807G Missense 15/18 - 1
14-95903278-A-G c.2417T>C p.F806S Missense 15/18 - 1
14-95903278-A-T c.2417T>A p.F806Y Missense 15/18 - 1
14-95903285-C-T c.2410G>A p.E804K Missense 15/18 - 3
14-95903286-A-G c.2409T>C p.H803= Synonymous 15/18 - 2
14-95903287-T-C c.2408A>G p.H803R Missense 15/18 - 1
14-95903289-G-A c.2406C>T p.S802= Synonymous 15/18 - 1
14-95903289-G-C c.2406C>G p.S802R Missense 15/18 - 1
14-95903289-G-T c.2406C>A p.S802R Missense 15/18 - 2
14-95903291-T-G c.2404A>C p.S802R Missense 15/18 - 1
14-95903291-T-C c.2404A>G p.S802G Missense 15/18 - 1
14-95903293-C-T c.2402G>A p.G801E Missense 15/18 - 1
14-95903297-C-T c.2398G>A p.E800K Missense 15/18 - 1
14-95903300-C-T c.2395G>A p.E799K Missense 15/18 - 1
14-95903305-TGTAGAA-T c.2384_2389del p.L795_L796del InFrameDeletion 15/18 - 1
14-95903305-TGTA-T c.2387_2389del p.L796del InFrameDeletion 15/18 - 4
14-95903307-T-A c.2388A>T p.L796= Synonymous 15/18 - 2
14-95903307-T-C c.2388A>G p.L796= Synonymous 15/18 - 2
14-95903307-T-G c.2388A>C p.L796= Synonymous 15/18 - 3
14-95903308-A-T c.2387T>A p.L796Q Missense 15/18 - 2
14-95903309-G-A c.2386C>T p.L796= Synonymous 15/18 - 3
14-95903307-TAGA-T c.2385_2387del p.L796del InFrameDeletion 15/18 - 12
14-95905369-C-G c.2376+1G>C - IntronicSNV - 14/17 1
14-95905370-G-A c.2376C>T p.R792= Synonymous 14/18 - 2
14-95905370-G-C c.2376C>G p.R792= Synonymous 14/18 - 1
14-95905370-G-T c.2376C>A p.R792= Synonymous 14/18 - 1
14-95905371-C-T c.2375G>A p.R792H Missense 14/18 - 1
14-95905372-G-A c.2374C>T p.R792C Missense 14/18 - 4
14-95905375-G-A c.2371C>T p.R791* Nonsense 14/18 - 3
14-95905378-G-A c.2368C>T p.R790C Missense 14/18 - 3
14-95905383-C-T c.2363G>A p.R788K Missense 14/18 - 1
14-95905390-T-C c.2356A>G p.I786V Missense 14/18 - 1
14-95905402-G-A c.2344C>T p.P782S Missense 14/18 - 1
14-95905406-G-A c.2340C>T p.I780= Synonymous 14/18 - 1
14-95905408-T-G c.2338A>C p.I780L Missense 14/18 - 1
14-95905417-C-A c.2329G>T p.G777* Nonsense 14/18 - 1
14-95905420-A-G c.2326T>C p.S776P Missense 14/18 - 1
14-95905426-G-C c.2320C>G p.P774A Missense 14/18 - 1
14-95905427-G-A c.2319C>T p.I773= Synonymous 14/18 - 1
14-95905433-G-T c.2313C>A p.N771K Missense 14/18 - 1
14-95905448-T-C c.2298A>G p.K766= Synonymous 14/18 - 1
14-95905457-C-A c.2289G>T p.S763= Synonymous 14/18 - 1
14-95905457-C-G c.2289G>C p.S763= Synonymous 14/18 - 2
14-95905457-C-T c.2289G>A p.S763= Synonymous 14/18 - 3
14-95905478-C-A c.2268G>T p.L756= Synonymous 14/18 - 1
14-95905478-C-G c.2268G>C p.L756= Synonymous 14/18 - 1
14-95905478-C-T c.2268G>A p.L756= Synonymous 14/18 - 1
14-95905480-G-A c.2266C>T p.L756= Synonymous 14/18 - 1
14-95905480-G-T c.2266C>A p.L756M Missense 14/18 - 1
14-95905483-G-T c.2263C>A p.H755N Missense 14/18 - 2
14-95905695-C-T c.2247-196G>A - IntronicSNV - 13/17 4
14-95905840-C-A c.2246+109G>T - IntronicSNV - 13/17 4
14-95905840-C-T c.2246+109G>A - IntronicSNV - 13/17 6
14-95905951-C-A c.2244G>T p.L748= Synonymous 13/18 - 1
14-95905951-C-G c.2244G>C p.L748= Synonymous 13/18 - 1
14-95905951-C-T c.2244G>A p.L748= Synonymous 13/18 - 1
14-95905953-G-A c.2242C>T p.L748= Synonymous 13/18 - 2
14-95905962-C-T c.2233G>A p.E745K Missense 13/18 - 1
14-95905967-A-G c.2228T>C p.L743P Missense 13/18 - 2
14-95905970-A-G c.2225T>C p.L742P Missense 13/18 - 1
14-95905972-C-A c.2223G>T p.R741S Missense 13/18 - 1
14-95905972-C-G c.2223G>C p.R741S Missense 13/18 - 1
14-95905973-C-A c.2222G>T p.R741M Missense 13/18 - 3
14-95905975-C-T c.2220G>A p.L740= Synonymous 13/18 - 1
14-95905977-A-G c.2218T>C p.L740= Synonymous 13/18 - 1
14-95905981-C-A c.2214G>T p.R738= Synonymous 13/18 - 1
14-95905981-C-G c.2214G>C p.R738= Synonymous 13/18 - 1
14-95905981-C-T c.2214G>A p.R738= Synonymous 13/18 - 1
14-95905983-G-A c.2212C>T p.R738W Missense 13/18 - 2
14-95905983-G-T c.2212C>A p.R738= Synonymous 13/18 - 1
14-95905987-C-T c.2208G>A p.S736= Synonymous 13/18 - 1
14-95905997-A-G c.2198T>C p.L733P Missense 13/18 - 1
14-95906000-T-C c.2195A>G p.E732G Missense 13/18 - 3
14-95906001-C-G c.2194G>C p.E732Q Missense 13/18 - 4
14-95906007-G-A c.2188C>T p.L730F Missense 13/18 - 1
14-95906013-C-T c.2182G>A p.E728K Missense 13/18 - 1
14-95906020-C-G c.2175G>C p.V725= Synonymous 13/18 - 1
14-95906023-G-A c.2172C>T p.A724= Synonymous 13/18 - 9
14-95906023-G-C c.2172C>G p.A724= Synonymous 13/18 - 2
14-95906023-G-T c.2172C>A p.A724= Synonymous 13/18 - 2
14-95906025-C-A c.2170G>T p.A724S Missense 13/18 - 1
14-95906030-C-T c.2165G>A p.G722D Missense 13/18 - 3
14-95906037-G-A c.2158C>T p.P720S Missense 13/18 - 4
14-95906039-G-A c.2156C>T p.S719F Missense 13/18 - 1
14-95906050-C-T c.2145G>A p.M715I Missense 13/18 - 2
14-95906055-C-T c.2140G>A p.V714M Missense 13/18 - 1
14-95906059-C-G c.2136G>C p.W712C Missense 13/18 - 1
14-95906062-GC-CT c.2132_2133delinsAG p.G711E Missense 13/18 - 1
14-95906064-C-G c.2131G>C p.G711R Missense 13/18 - 1
14-95906069-G-A c.2126C>T p.A709V Missense 13/18 - 2
14-95906070-C-T c.2125G>A p.A709T Missense 13/18 - 2
14-95906071-T-A c.2124A>T p.E708D Missense 13/18 - 1
14-95906076-C-T c.2119G>A p.V707M Missense 13/18 - 1
14-95906090-G-A c.2105C>T p.A702V Missense 13/18 - 2
14-95906095-C-A c.2100G>T p.K700N Missense 13/18 - 5
14-95906095-C-G c.2100G>C p.K700N Missense 13/18 - 2
14-95906101-C-A c.2094G>T p.P698= Synonymous 13/18 - 2
14-95906101-C-G c.2094G>C p.P698= Synonymous 13/18 - 2
14-95906101-C-T c.2094G>A p.P698= Synonymous 13/18 - 2
14-95906102-G-A c.2093C>T p.P698L Missense 13/18 - 1
14-95906109-C-T c.2086G>A p.E696K Missense 13/18 - 1
14-95906111-G-A c.2084C>T p.A695V Missense 13/18 - 1
14-95906111-G-C c.2084C>G p.A695G Missense 13/18 - 1
14-95906114-A-C c.2081T>G p.V694G Missense 13/18 - 1
14-95906119-C-A c.2076G>T p.R692S Missense 13/18 - 2
14-95906119-C-G c.2076G>C p.R692S Missense 13/18 - 1
14-95906253-C-G c.2071G>C p.E691Q Missense 12/18 - 1
14-95906253-C-T c.2071G>A p.E691K Missense 12/18 - 1
14-95906259-C-T c.2065G>A p.E689K Missense 12/18 - 1
14-95906260-G-A c.2064C>T p.A688= Synonymous 12/18 - 2
14-95906260-G-C c.2064C>G p.A688= Synonymous 12/18 - 1
14-95906260-G-T c.2064C>A p.A688= Synonymous 12/18 - 1
14-95906263-C-A c.2061G>T p.E687D Missense 12/18 - 1
14-95906269-G-A c.2055C>T p.S685= Synonymous 12/18 - 2
14-95906270-G-A c.2054C>T p.S685F Missense 12/18 - 1
14-95906273-T-G c.2051A>C p.E684A Missense 12/18 - 1
14-95906274-C-A c.2050G>T p.E684* Nonsense 12/18 - 1
14-95906274-C-T c.2050G>A p.E684K Missense 12/18 - 1
14-95906275-G-A c.2049C>T p.A683= Synonymous 12/18 - 1
14-95906275-G-C c.2049C>G p.A683= Synonymous 12/18 - 1
14-95906275-G-T c.2049C>A p.A683= Synonymous 12/18 - 1
14-95906276-G-T c.2048C>A p.A683D Missense 12/18 - 2
14-95906280-C-A c.2044G>T p.D682Y Missense 12/18 - 1
14-95906279-TC-T c.2044del p.D682Mfs*33 Frameshift 12/18 - 1
14-95906284-C-A c.2040G>T p.P680= Synonymous 12/18 - 1
14-95906285-G-A c.2039C>T p.P680L Missense 12/18 - 1
14-95906291-G-A c.2033C>T p.A678V Missense 12/18 - 1
14-95906295-C-G c.2029G>C p.E677Q Missense 12/18 - 3
14-95906299-C-G c.2025G>C p.R675= Synonymous 12/18 - 1
14-95906300-C-T c.2024G>A p.R675Q Missense 12/18 - 1
14-95906301-G-A c.2023C>T p.R675W Missense 12/18 - 3
14-95906302-G-A c.2022C>T p.H674= Synonymous 12/18 - 1
14-95906307-C-T c.2017G>A p.A673T Missense 12/18 - 1
14-95906314-C-A c.2010G>T p.K670N Missense 12/18 - 1
14-95906315-T-A c.2009A>T p.K670M Missense 12/18 - 1
14-95906315-T-G c.2009A>C p.K670T Missense 12/18 - 1
14-95906321-G-A c.2003C>T p.T668M Missense 12/18 - 35
14-95906322-T-A c.2002A>T p.T668S Missense 12/18 - 1
14-95906324-G-C c.2000C>G p.T667S Missense 12/18 - 1
14-95906325-T-A c.1999A>T p.T667S Missense 12/18 - 1
14-95906329-A-G c.1995T>C p.V665= Synonymous 12/18 - 2
14-95906331-C-T c.1993G>A p.V665I Missense 12/18 - 1
14-95906332-G-A c.1992C>T p.I664= Synonymous 12/18 - 2
14-95906332-G-T c.1992C>A p.I664= Synonymous 12/18 - 2
14-95906336-C-T c.1988G>A p.W663* Nonsense 12/18 - 1
14-95906340-G-T c.1984C>A p.Q662K Missense 12/18 - 1
14-95906342-C-T c.1982G>A p.R661Q Missense 12/18 - 1
14-95906346-G-A c.1978C>T p.L660= Synonymous 12/18 - 1
14-95906346-G-T c.1978C>A p.L660M Missense 12/18 - 1
14-95906352-G-T c.1972C>A p.L658M Missense 12/18 - 1
14-95906371-G-A c.1953C>T p.C651= Synonymous 12/18 - 1
14-95906371-G-C c.1953C>G p.C651W Missense 12/18 - 2
14-95906374-G-C c.1950C>G p.H650Q Missense 12/18 - 3
14-95906374-G-T c.1950C>A p.H650Q Missense 12/18 - 2
14-95906386-A-C c.1938T>G p.S646R Missense 12/18 - 1
14-95906386-A-T c.1938T>A p.S646R Missense 12/18 - 1
14-95906388-T-G c.1936A>C p.S646R Missense 12/18 - 1
14-95906399-C-A c.1925G>T p.R642M Missense 12/18 - 1
14-95906403-C-T c.1921G>A p.D641N Missense 12/18 - 1
14-95906441-A-G c.1912-29T>C - IntronicSNV - 11/17 8
14-95906476-C-T c.1912-64G>A - IntronicSNV - 11/17 7
14-95906666-T-C c.1912-254A>G - IntronicSNV - 11/17 1
14-95908736-A-G c.1911+756T>C - IntronicSNV - 11/17 1
14-95909492-C-T c.1911G>A p.E637= Synonymous 11/18 - 1
14-95909494-C-G c.1909G>C p.E637Q Missense 11/18 - 1
14-95909498-A-C c.1905T>G p.S635= Synonymous 11/18 - 1
14-95909499-GA-AG c.1903_1904delinsCT p.S635L Missense 11/18 - 1
14-95909505-T-C c.1898A>G p.Q633R Missense 11/18 - 2
14-95909507-C-A c.1896G>T p.L632= Synonymous 11/18 - 1
14-95909507-C-G c.1896G>C p.L632= Synonymous 11/18 - 1
14-95909507-C-T c.1896G>A p.L632= Synonymous 11/18 - 1
14-95909509-G-A c.1894C>T p.L632= Synonymous 11/18 - 1
14-95909521-C-T c.1882G>A p.D628N Missense 11/18 - 1
14-95909522-G-A c.1881C>T p.S627= Synonymous 11/18 - 2
14-95909523-G-T c.1880C>A p.S627Y Missense 11/18 - 1
14-95909526-G-A c.1877C>T p.S626F Missense 11/18 - 3
14-95909555-G-A c.1848C>T p.P616= Synonymous 11/18 - 3
14-95909555-G-C c.1848C>G p.P616= Synonymous 11/18 - 1
14-95909555-G-T c.1848C>A p.P616= Synonymous 11/18 - 1
14-95909556-G-A c.1847C>T p.P616L Missense 11/18 - 1
14-95909562-T-A c.1841A>T p.E614V Missense 11/18 - 1
14-95909562-T-C c.1841A>G p.E614G Missense 11/18 - 1
14-95909563-C-G c.1840G>C p.E614Q Missense 11/18 - 1
14-95909564-C-T c.1839G>A p.Q613= Synonymous 11/18 - 1
14-95909566-G-A c.1837C>T p.Q613* Nonsense 11/18 - 1
14-95909567-G-C c.1836C>G p.V612= Synonymous 11/18 - 2
14-95909572-G-C c.1831C>G p.L611V Missense 11/18 - 1
14-95909576-C-A c.1827G>T p.R609S Missense 11/18 - 1
14-95909587-C-T c.1816G>A p.E606K Missense 11/18 - 1
14-95909592-T-C c.1811A>G p.Q604R Missense 11/18 - 1
14-95909595-G-T c.1808C>A p.A603E Missense 11/18 - 1
14-95909599-C-A c.1804G>T p.G602W Missense 11/18 - 1
14-95909599-C-G c.1804G>C p.G602R Missense 11/18 - 1
14-95909599-C-T c.1804G>A p.G602R Missense 11/18 - 1
14-95909600-C-A c.1803G>T p.L601F Missense 11/18 - 1
14-95909600-C-G c.1803G>C p.L601F Missense 11/18 - 1
14-95909619-CT-C c.1784del p.Q595Rfs*72 Frameshift 11/18 - 1
14-95909624-C-A c.1779G>T p.G593= Synonymous 11/18 - 1
14-95909624-C-G c.1779G>C p.G593= Synonymous 11/18 - 1
14-95909624-C-T c.1779G>A p.G593= Synonymous 11/18 - 1
14-95909630-C-A c.1777-4G>T - IntronicSNV - 10/17 1
14-95909630-C-T c.1777-4G>A - IntronicSNV - 10/17 1
14-95909876-A-C c.1777-250T>G - IntronicSNV - 10/17 2
14-95910821-C-A c.1776+1G>T - IntronicSNV - 10/17 2
14-95910821-C-T c.1776+1G>A - IntronicSNV - 10/17 1
14-95910826-A-G c.1772T>C p.L591S Missense 10/18 - 1
14-95910825-C-T c.1773G>A p.L591= Synonymous 10/18 - 2
14-95910827-A-G c.1771T>C p.L591= Synonymous 10/18 - 1
14-95910829-CT-TA c.1768_1769delinsTA p.R590* Nonsense 10/18 - 1
14-95910832-G-C c.1766C>G p.S589* Nonsense 10/18 - 4
14-95910832-G-T c.1766C>A p.S589* Nonsense 10/18 - 2
14-95910838-TGG-T c.1758_1759del p.Q587Afs*104 Frameshift 10/18 - 1
14-95910840-G-A c.1758C>T p.A586= Synonymous 10/18 - 1
14-95910840-G-C c.1758C>G p.A586= Synonymous 10/18 - 1
14-95910840-G-T c.1758C>A p.A586= Synonymous 10/18 - 1
14-95910842-C-T c.1756G>A p.A586T Missense 10/18 - 1
14-95910847-T-A c.1751A>T p.K584I Missense 10/18 - 1
14-95910854-G-A c.1744C>T p.P582S Missense 10/18 - 1
14-95910860-C-A c.1738G>T p.D580Y Missense 10/18 - 4
14-95910860-C-T c.1738G>A p.D580N Missense 10/18 - 1
14-95910859-TC-T c.1738del p.D580Tfs*87 Frameshift 10/18 - 1
14-95910861-C-A c.1737G>T p.R579= Synonymous 10/18 - 1
14-95910861-C-G c.1737G>C p.R579= Synonymous 10/18 - 1
14-95910861-C-T c.1737G>A p.R579= Synonymous 10/18 - 1
14-95910863-G-T c.1735C>A p.R579= Synonymous 10/18 - 1
14-95910865-CT-C c.1733del p.Q578Rfs*89 Frameshift 10/18 - 1
14-95910869-G-A c.1729C>T p.L577F Missense 10/18 - 1
14-95910871-C-A c.1727G>T p.G576V Missense 10/18 - 1
14-95910884-G-A c.1714C>T p.Q572* Nonsense 10/18 - 2
14-95910883-TG-T c.1714del p.Q572Kfs*95 Frameshift 10/18 - 1
14-95910899-G-A c.1699C>T p.L567F Missense 10/18 - 1
14-95910912-C-A c.1686G>T p.R562S Missense 10/18 - 1
14-95910912-C-G c.1686G>C p.R562S Missense 10/18 - 1
14-95910916-T-A c.1682A>T p.Q561L Missense 10/18 - 3
14-95910917-G-A c.1681C>T p.Q561* Nonsense 10/18 - 3
14-95910923-G-A c.1675C>T p.P559S Missense 10/18 - 2
14-95910923-G-T c.1675C>A p.P559T Missense 10/18 - 4
14-95910933-T-A c.1665A>T p.A555= Synonymous 10/18 - 3
14-95910933-T-C c.1665A>G p.A555= Synonymous 10/18 - 11
14-95910933-T-G c.1665A>C p.A555= Synonymous 10/18 - 3
14-95910934-G-A c.1664C>T p.A555V Missense 10/18 - 1
14-95910937-C-T c.1661G>A p.G554E Missense 10/18 - 1
14-95910939-A-G c.1659T>C p.F553= Synonymous 10/18 - 2
14-95910940-AAAG-A c.1656_1658del p.F553del InFrameDeletion 10/18 - 1
14-95910944-C-T c.1654G>A p.D552N Missense 10/18 - 2
14-95910953-G-C c.1645C>G p.Q549E Missense 10/18 - 2
14-95910961-A-G c.1637T>C p.L546P Missense 10/18 - 1
14-95910963-G-C c.1635C>G p.S545R Missense 10/18 - 2
14-95910963-G-T c.1635C>A p.S545R Missense 10/18 - 2
14-95910965-T-G c.1633A>C p.S545R Missense 10/18 - 2
14-95910964-C-T c.1634G>A p.S545N Missense 10/18 - 1
14-95911008-A-G c.1633-43T>C - IntronicSNV - 9/17 3
14-95911060-C-T c.1633-95G>A - IntronicSNV - 9/17 2
14-95911123-G-T c.1633-158C>A - IntronicSNV - 9/17 3
14-95911137-C-T c.1633-172G>A - IntronicSNV - 9/17 2
14-95911305-T-C c.1633-340A>G - IntronicSNV - 9/17 2
14-95911981-A-C c.1632+265T>G - IntronicSNV - 9/17 1
14-95911981-A-G c.1632+265T>C - IntronicSNV - 9/17 1
14-95912247-CT-C c.1631del p.Q544Rfs*123 Frameshift 9/18 - 1
14-95912256-C-T c.1622G>A p.S541N Missense 9/18 - 1
14-95912259-T-G c.1619A>C p.K540T Missense 9/18 - 1
14-95912266-G-T c.1612C>A p.Q538K Missense 9/18 - 1
14-95912270-G-A c.1608C>T p.L536= Synonymous 9/18 - 2
14-95912280-T-C c.1598A>G p.H533R Missense 9/18 - 1
14-95912282-C-A c.1596G>T p.L532= Synonymous 9/18 - 1
14-95912282-C-G c.1596G>C p.L532= Synonymous 9/18 - 1
14-95912282-C-T c.1596G>A p.L532= Synonymous 9/18 - 1
14-95912284-G-A c.1594C>T p.L532= Synonymous 9/18 - 2
14-95912288-G-A c.1590C>T p.D530= Synonymous 9/18 - 1
14-95912292-C-A c.1586G>T p.R529I Missense 9/18 - 2
14-95912298-C-T c.1580G>A p.R527K Missense 9/18 - 1
14-95912306-A-G c.1572T>C p.G524= Synonymous 9/18 - 1
14-95912312-C-T c.1566G>A p.V522= Synonymous 9/18 - 1
14-95912314-C-A c.1564G>T p.V522L Missense 9/18 - 1
14-95912314-C-T c.1564G>A p.V522M Missense 9/18 - 1
14-95912316-T-C c.1562A>G p.Q521R Missense 9/18 - 1
14-95912328-G-A c.1550C>T p.A517V Missense 9/18 - 1
14-95912329-C-A c.1549G>T p.A517S Missense 9/18 - 1
14-95912330-CG-GA c.1547_1548delinsTC p.T516I Missense 9/18 - 1
14-95912334-G-A c.1544C>T p.A515V Missense 9/18 - 1
14-95912335-C-G c.1543G>C p.A515P Missense 9/18 - 2
14-95912336-TCT-ACA c.1540_1542delinsTGT p.R514C Missense 9/18 - 2
14-95912339-C-G c.1539G>C p.E513D Missense 9/18 - 1
14-95912341-C-G c.1537G>C p.E513Q Missense 9/18 - 1
14-95912342-C-A c.1536G>T p.Q512H Missense 9/18 - 1
14-95912342-C-G c.1536G>C p.Q512H Missense 9/18 - 1
14-95912346-C-G c.1532G>C p.G511A Missense 9/18 - 1
14-95912347-C-A c.1531G>T p.G511C Missense 9/18 - 2
14-95912351-G-A c.1527C>T p.I509= Synonymous 9/18 - 1
14-95912351-G-T c.1527C>A p.I509= Synonymous 9/18 - 3
14-95912358-A-G c.1520T>C p.I507T Missense 9/18 - 1
14-95912373-T-C c.1505A>G p.K502R Missense 9/18 - 1
14-95912375-C-T c.1503G>A p.L501= Synonymous 9/18 - 1
14-95912379-T-A c.1499A>T p.Q500L Missense 9/18 - 1
14-95912384-C-A c.1494G>T p.M498I Missense 9/18 - 1
14-95912384-C-G c.1494G>C p.M498I Missense 9/18 - 1
14-95912384-C-T c.1494G>A p.M498I Missense 9/18 - 1
14-95912386-T-C c.1492A>G p.M498V Missense 9/18 - 1
14-95912387-C-A c.1491G>T p.T497= Synonymous 9/18 - 1
14-95912387-C-G c.1491G>C p.T497= Synonymous 9/18 - 1
14-95912387-C-T c.1491G>A p.T497= Synonymous 9/18 - 1
14-95912388-G-A c.1490C>T p.T497M Missense 9/18 - 10
14-95912388-G-C c.1490C>G p.T497R Missense 9/18 - 1
14-95912390-C-A c.1488G>T p.L496= Synonymous 9/18 - 1
14-95912390-C-G c.1488G>C p.L496= Synonymous 9/18 - 1
14-95912390-C-T c.1488G>A p.L496= Synonymous 9/18 - 2
14-95912392-G-A c.1486C>T p.L496= Synonymous 9/18 - 1
14-95912396-C-T c.1482G>A p.E494= Synonymous 9/18 - 1
14-95912399-T-A c.1479A>T p.K493N Missense 9/18 - 1
14-95912399-T-G c.1479A>C p.K493N Missense 9/18 - 1
14-95912406-C-T c.1472G>A p.R491H Missense 9/18 - 3
14-95912407-G-A c.1471C>T p.R491C Missense 9/18 - 4
14-95912409-G-A c.1469C>T p.S490F Missense 9/18 - 2
14-95912411-GCT-ACCACC c.1465_1467delinsGGTGGT p.S489delinsGG MultiAAMissense 9/18 - 1
14-95912417-C-A c.1461G>T p.M487I Missense 9/18 - 2
14-95912417-C-G c.1461G>C p.M487I Missense 9/18 - 3
14-95912417-C-T c.1461G>A p.M487I Missense 9/18 - 2
14-95912420-C-A c.1458G>T p.L486= Synonymous 9/18 - 1
14-95912424-G-A c.1454C>T p.A485V Missense 9/18 - 1
14-95912425-C-A c.1453G>T p.A485S Missense 9/18 - 1
14-95912425-C-G c.1453G>C p.A485P Missense 9/18 - 1
14-95912427-G-T c.1451C>A p.A484E Missense 9/18 - 1
14-95912596-C-T c.1450-168G>A - IntronicSNV - 8/17 1
14-95913507-G-A c.1450-1079C>T - IntronicSNV - 8/17 1
14-95916119-G-A c.1449+149C>T - IntronicSNV - 8/17 2
14-95916268-C-T c.1449G>A p.E483= Synonymous 8/18 - 1
14-95916270-C-T c.1447G>A p.E483K Missense 8/18 - 2
14-95916271-G-A c.1446C>T p.I482= Synonymous 8/18 - 4
14-95916271-G-T c.1446C>A p.I482= Synonymous 8/18 - 1
14-95916276-G-A c.1441C>T p.Q481* Nonsense 8/18 - 1
14-95916282-G-C c.1435C>G p.L479V Missense 8/18 - 1
14-95916305-T-A c.1412A>T p.D471V Missense 8/18 - 1
14-95916307-C-A c.1410G>T p.P470= Synonymous 8/18 - 1
14-95916307-C-G c.1410G>C p.P470= Synonymous 8/18 - 1
14-95916307-C-T c.1410G>A p.P470= Synonymous 8/18 - 1
14-95916308-G-A c.1409C>T p.P470L Missense 8/18 - 1
14-95916309-G-A c.1408C>T p.P470S Missense 8/18 - 1
14-95916313-G-C c.1404C>G p.S468R Missense 8/18 - 1
14-95916317-G-A c.1400C>T p.A467V Missense 8/18 - 1
14-95916325-C-A c.1392G>T p.E464D Missense 8/18 - 1
14-95916325-C-G c.1392G>C p.E464D Missense 8/18 - 1
14-95916323-ACCT-A c.1391_1393del p.E464del InFrameDeletion 8/18 - 1
14-95916333-G-A c.1384C>T p.L462F Missense 8/18 - 2
14-95916335-CG-TA c.1381_1382delinsTA p.R461* Nonsense 8/18 - 1
14-95916335-C-T c.1382G>A p.R461Q Missense 8/18 - 1
14-95916345-G-A c.1372C>T p.L458= Synonymous 8/18 - 1
14-95916355-C-T c.1362G>A p.L454= Synonymous 8/18 - 1
14-95916358-C-T c.1359G>A p.Q453= Synonymous 8/18 - 1
14-95916369-G-A c.1348C>T p.Q450* Nonsense 8/18 - 1
14-95916372-G-T c.1345C>A p.L449M Missense 8/18 - 1
14-95916373-AG-TT c.1343_1344delinsAA p.P448Q Missense 8/18 - 1
14-95916378-G-A c.1339C>T p.R447W Missense 8/18 - 1
14-95916388-C-A c.1329G>T p.Q443H Missense 8/18 - 1
14-95916388-C-G c.1329G>C p.Q443H Missense 8/18 - 1
14-95916397-C-T c.1320G>A p.E440= Synonymous 8/18 - 1
14-95916399-C-T c.1318G>A p.E440K Missense 8/18 - 1
14-95916403-C-A c.1314G>T p.A438= Synonymous 8/18 - 1
14-95916404-G-A c.1313C>T p.A438V Missense 8/18 - 4
14-95916405-CCG-C c.1310_1311del p.A437Gfs*97 Frameshift 8/18 - 2
14-95916409-G-A c.1308C>T p.A436= Synonymous 8/18 - 3
14-95916409-G-C c.1308C>G p.A436= Synonymous 8/18 - 1
14-95916409-G-T c.1308C>A p.A436= Synonymous 8/18 - 1
14-95916410-G-A c.1307C>T p.A436V Missense 8/18 - 1
14-95916411-C-T c.1306G>A p.A436T Missense 8/18 - 1
14-95916416-C-T c.1301G>A p.R434H Missense 8/18 - 3
14-95916417-G-A c.1300C>T p.R434C Missense 8/18 - 1
14-95916421-CCT-ACA c.1294_1296delinsTGT p.R432C Missense 8/18 - 2
14-95916423-T-A c.1294A>T p.R432W Missense 8/18 - 1
14-95916424-C-A c.1293G>T p.A431= Synonymous 8/18 - 1
14-95916424-C-G c.1293G>C p.A431= Synonymous 8/18 - 1
14-95916424-C-T c.1293G>A p.A431= Synonymous 8/18 - 1
14-95916425-G-A c.1292C>T p.A431V Missense 8/18 - 3
14-95916566-G-A c.1275-124C>T - IntronicSNV - 7/17 4
14-95917923-C-T c.1274+661G>A - IntronicSNV - 7/17 1
14-95918466-A-G c.1274+118T>C - IntronicSNV - 7/17 4
14-95918473-A-G c.1274+111T>C - IntronicSNV - 7/17 4
14-95918513-G-A c.1274+71C>T - IntronicSNV - 7/17 2
14-95918548-AC-A c.1274+35del - IntronicDeletion - 7/17 2
14-95918566-C-T c.1274+18G>A - IntronicSNV - 7/17 1
14-95918595-C-T c.1263G>A p.Q421= Synonymous 7/18 - 3
14-95918606-C-T c.1252G>A p.A418T Missense 7/18 - 1
14-95918609-T-A c.1249A>T p.I417F Missense 7/18 - 2
14-95918625-T-A c.1233A>T p.P411= Synonymous 7/18 - 15
14-95918625-T-C c.1233A>G p.P411= Synonymous 7/18 - 18
14-95918625-T-G c.1233A>C p.P411= Synonymous 7/18 - 1
14-95918626-G-A c.1232C>T p.P411L Missense 7/18 - 3
14-95918627-G-A c.1231C>T p.P411S Missense 7/18 - 2
14-95918628-C-T c.1230G>A p.K410= Synonymous 7/18 - 1
14-95918632-A-G c.1226T>C p.L409P Missense 7/18 - 3
14-95918634-G-A c.1224C>T p.N408= Synonymous 7/18 - 1
14-95918635-T-G c.1223A>C p.N408T Missense 7/18 - 1
14-95918641-G-A c.1217C>T p.P406L Missense 7/18 - 7
14-95918642-G-A c.1216C>T p.P406S Missense 7/18 - 2
14-95918647-A-T c.1211T>A p.V404D Missense 7/18 - 1
14-95918648-C-T c.1210G>A p.V404I Missense 7/18 - 1
14-95918649-G-A c.1209C>T p.I403= Synonymous 7/18 - 2
14-95918649-G-T c.1209C>A p.I403= Synonymous 7/18 - 1
14-95918657-C-T c.1201G>A p.E401K Missense 7/18 - 1
14-95918658-C-A c.1200G>T p.K400N Missense 7/18 - 1
14-95918658-C-G c.1200G>C p.K400N Missense 7/18 - 1
14-95918662-A-G c.1196T>C p.L399P Missense 7/18 - 1
14-95918665-T-C c.1193A>G p.Q398R Missense 7/18 - 1
14-95918672-G-A c.1186C>T p.Q396* Nonsense 7/18 - 1
14-95918677-C-T c.1181G>A p.R394Q Missense 7/18 - 1
14-95918679-G-A c.1179C>T p.D393= Synonymous 7/18 - 1
14-95918679-G-T c.1179C>A p.D393E Missense 7/18 - 1
14-95918681-C-T c.1177G>A p.D393N Missense 7/18 - 1
14-95918682-CAC-GAT c.1174_1176delinsATC p.V392I Missense 7/18 - 1
14-95918684-C-T c.1174G>A p.V392M Missense 7/18 - 2
14-95918685-C-T c.1173G>A p.R391= Synonymous 7/18 - 2
14-95918686-CG-AT c.1171_1172delinsAT p.R391M Missense 7/18 - 1
14-95918686-C-T c.1172G>A p.R391Q Missense 7/18 - 2
14-95918692-T-C c.1166A>G p.E389G Missense 7/18 - 2
14-95918696-C-T c.1162G>A p.E388K Missense 7/18 - 1
14-95918701-G-A c.1157C>T p.A386V Missense 7/18 - 1
14-95918703-C-A c.1155G>T p.L385= Synonymous 7/18 - 1
14-95918703-CAG-GAT c.1153_1155delinsATC p.L385I Missense 7/18 - 1
14-95918707-G-A c.1151C>T p.A384V Missense 7/18 - 2
14-95918710-G-A c.1148C>T p.A383V Missense 7/18 - 3
14-95918714-G-A c.1144C>T p.R382W Missense 7/18 - 1
14-95918715-TG-CA c.1142_1143inv p.T381M Missense 7/18 - 1
14-95918720-C-T c.1138G>A p.A380T Missense 7/18 - 1
14-95918741-G-A c.1138-21C>T - IntronicSNV - 6/17 7
14-95918745-C-G c.1138-25G>C - IntronicSNV - 6/17 7
14-95918745-C-T c.1138-25G>A - IntronicSNV - 6/17 7
14-95918759-C-G c.1138-39G>C - IntronicSNV - 6/17 7
14-95918759-C-T c.1138-39G>A - IntronicSNV - 6/17 7
14-95918879-A-G c.1138-159T>C - IntronicSNV - 6/17 1
14-95918879-A-T c.1138-159T>A - IntronicSNV - 6/17 1
14-95918928-G-T c.1138-208C>A - IntronicSNV - 6/17 1
14-95921586-A-G c.1137+128T>C - IntronicSNV - 6/17 1
14-95921697-C-T c.1137+17G>A - IntronicSNV - 6/17 1
14-95921705-C-A c.1137+9G>T - IntronicSNV - 6/17 1
14-95921714-C-T c.1137G>A p.S379= Synonymous 6/18 - 1
14-95921715-G-A c.1136C>T p.S379L Missense 6/18 - 1
14-95921719-A-G c.1132T>C p.Y378H Missense 6/18 - 1
14-95921720-G-A c.1131C>T p.R377= Synonymous 6/18 - 3
14-95921720-G-C c.1131C>G p.R377= Synonymous 6/18 - 3
14-95921720-G-T c.1131C>A p.R377= Synonymous 6/18 - 4
14-95921721-C-T c.1130G>A p.R377H Missense 6/18 - 4
14-95921722-G-A c.1129C>T p.R377C Missense 6/18 - 2
14-95921723-T-A c.1128A>T p.R376S Missense 6/18 - 1
14-95921723-T-G c.1128A>C p.R376S Missense 6/18 - 1
14-95921725-T-A c.1126A>T p.R376* Nonsense 6/18 - 1
14-95921726-C-T c.1125G>A p.W375* Nonsense 6/18 - 1
14-95921727-C-T c.1124G>A p.W375* Nonsense 6/18 - 1
14-95921729-G-A c.1122C>T p.H374= Synonymous 6/18 - 1
14-95921737-C-A c.1114G>T p.V372L Missense 6/18 - 1
14-95921737-C-G c.1114G>C p.V372L Missense 6/18 - 1
14-95921741-C-T c.1110G>A p.E370= Synonymous 6/18 - 18
14-95921743-C-A c.1108G>T p.E370* Nonsense 6/18 - 1
14-95921744-G-C c.1107C>G p.D369E Missense 6/18 - 1
14-95921745-T-C c.1106A>G p.D369G Missense 6/18 - 1
14-95921746-C-G c.1105G>C p.D369H Missense 6/18 - 2
14-95921749-C-T c.1102G>A p.E368K Missense 6/18 - 2
14-95921751-G-A c.1100C>T p.T367I Missense 6/18 - 1
14-95921754-C-T c.1097G>A p.G366E Missense 6/18 - 2
14-95921755-C-G c.1096G>C p.G366R Missense 6/18 - 2
14-95921755-C-T c.1096G>A p.G366R Missense 6/18 - 3
14-95921757-G-A c.1094C>T p.A365V Missense 6/18 - 2
14-95921762-C-A c.1089G>T p.A363= Synonymous 6/18 - 2
14-95921762-C-G c.1089G>C p.A363= Synonymous 6/18 - 2
14-95921762-C-T c.1089G>A p.A363= Synonymous 6/18 - 3
14-95921763-G-A c.1088C>T p.A363V Missense 6/18 - 3
14-95921765-C-T c.1086G>A p.A362= Synonymous 6/18 - 1
14-95921769-G-A c.1082C>T p.P361L Missense 6/18 - 1
14-95921779-C-A c.1072G>T p.G358C Missense 6/18 - 1
14-95921782-C-A c.1069G>T p.E357* Nonsense 6/18 - 1
14-95921787-G-C c.1064C>G p.A355G Missense 6/18 - 1
14-95921793-C-T c.1058G>A p.R353K Missense 6/18 - 1
14-95921795-C-T c.1056G>A p.Q352= Synonymous 6/18 - 1
14-95921809-T-C c.1042A>G p.R348G Missense 6/18 - 2
14-95921815-C-T c.1036G>A p.E346K Missense 6/18 - 1
14-95921816-A-C c.1035T>G p.S345R Missense 6/18 - 1
14-95921816-A-T c.1035T>A p.S345R Missense 6/18 - 1
14-95921818-T-G c.1033A>C p.S345R Missense 6/18 - 1
14-95921818-T-A c.1033A>T p.S345C Missense 6/18 - 1
14-95921824-C-A c.1027G>T p.E343* Nonsense 6/18 - 1
14-95921828-C-A c.1023G>T p.E341D Missense 6/18 - 2
14-95921828-C-G c.1023G>C p.E341D Missense 6/18 - 1
14-95921832-A-T c.1019T>A p.L340Q Missense 6/18 - 1
14-95921839-T-G c.1012A>C p.K338Q Missense 6/18 - 2
14-95921844-T-G c.1007A>C p.Q336P Missense 6/18 - 1
14-95921851-C-T c.1000G>A p.E334K Missense 6/18 - 1
14-95921856-G-T c.995C>A p.A332D Missense 6/18 - 1
14-95921857-C-A c.994G>T p.A332S Missense 6/18 - 2
14-95921857-C-T c.994G>A p.A332T Missense 6/18 - 1
14-95921859-C-T c.992G>A p.G331E Missense 6/18 - 5
14-95921862-CT-TG c.988_989delinsCA p.R330Q Missense 6/18 - 1
14-95921865-G-T c.986C>A p.S329Y Missense 6/18 - 1
14-95921866-A-C c.985T>G p.S329A Missense 6/18 - 1
14-95921868-C-T c.983G>A p.R328Q Missense 6/18 - 1
14-95921869-G-A c.982C>T p.R328W Missense 6/18 - 1
14-95921869-G-C c.982C>G p.R328G Missense 6/18 - 1
14-95921873-C-A c.978G>T p.L326= Synonymous 6/18 - 1
14-95921873-C-G c.978G>C p.L326= Synonymous 6/18 - 1
14-95921873-C-T c.978G>A p.L326= Synonymous 6/18 - 1
14-95921875-G-A c.976C>T p.L326= Synonymous 6/18 - 1
14-95921877-C-A c.974G>T p.G325V Missense 6/18 - 1
14-95921880-C-T c.971G>A p.R324Q Missense 6/18 - 1
14-95921881-G-A c.970C>T p.R324W Missense 6/18 - 1
14-95921884-G-A c.967C>T p.L323= Synonymous 6/18 - 1
14-95921886-C-T c.965G>A p.R322Q Missense 6/18 - 3
14-95921887-G-A c.964C>T p.R322W Missense 6/18 - 2
14-95921888-CTC-GAT c.961_963delinsATC p.E321I Missense 6/18 - 1
14-95921885-CCGCTCCTCCTCCTCCTCCCAGAGGGCG-C c.939_965del p.A314_R322del InFrameDeletion 6/18 - 1
14-95921889-T-C c.962A>G p.E321G Missense 6/18 - 1
14-95921891-C-T c.960G>A p.E320= Synonymous 6/18 - 1
14-95921893-C-A c.958G>T p.E320* Nonsense 6/18 - 1
14-95921894-C-A c.957G>T p.E319D Missense 6/18 - 1
14-95921894-C-G c.957G>C p.E319D Missense 6/18 - 1
14-95921900-C-T c.951G>A p.E317= Synonymous 6/18 - 2
14-95921887-GCTC-G c.961_963del p.E321del InFrameDeletion 6/18 - 2
14-95921904-C-T c.947G>A p.W316* Nonsense 6/18 - 1
14-95921906-GAGGGCGCGC-G c.936_944del p.R313_L315del InFrameDeletion 6/18 - 1
14-95921911-C-T c.940G>A p.A314T Missense 6/18 - 2
14-95921913-C-T c.938G>A p.R313H Missense 6/18 - 4
14-95921914-G-A c.937C>T p.R313C Missense 6/18 - 3
14-95921915-C-A c.936G>T p.L312= Synonymous 6/18 - 1
14-95921915-C-G c.936G>C p.L312= Synonymous 6/18 - 1
14-95921915-C-T c.936G>A p.L312= Synonymous 6/18 - 1
14-95921917-G-A c.934C>T p.L312= Synonymous 6/18 - 1
14-95921926-AG-A c.925del p.L309Wfs*91 Frameshift 6/18 - 1
14-95921931-T-A c.920A>T p.K307I Missense 6/18 - 1
14-95921933-CCT-ACA c.916_918delinsTGT p.R306C Missense 6/18 - 1
14-95921934-C-T c.917G>A p.R306K Missense 6/18 - 1
14-95921936-C-A c.915G>T p.M305I Missense 6/18 - 5
14-95921936-C-G c.915G>C p.M305I Missense 6/18 - 5
14-95921936-C-T c.915G>A p.M305I Missense 6/18 - 7
14-95921942-T-G c.909A>C p.E303D Missense 6/18 - 1
14-95921943-TC-T c.907del p.E303Kfs*3 Frameshift 6/18 - 1
14-95921948-T-A c.903A>T p.E301D Missense 6/18 - 2
14-95921948-T-G c.903A>C p.E301D Missense 6/18 - 1
14-95921950-C-A c.901G>T p.E301* Nonsense 6/18 - 2
14-95921950-C-T c.901G>A p.E301K Missense 6/18 - 1
14-95921952-C-G c.899G>C p.G300A Missense 6/18 - 3
14-95921953-C-T c.898G>A p.G300R Missense 6/18 - 4
14-95921965-C-T c.886G>A p.E296K Missense 6/18 - 1
14-95921970-C-T c.881G>A p.G294D Missense 6/18 - 3
14-95921971-C-T c.880G>A p.G294S Missense 6/18 - 1
14-95921973-A-G c.878T>C p.L293S Missense 6/18 - 1
14-95921976-G-A c.875C>T p.P292L Missense 6/18 - 3
14-95921977-G-A c.874C>T p.P292S Missense 6/18 - 3
14-95921988-C-A c.863G>T p.R288L Missense 6/18 - 1
14-95921988-C-T c.863G>A p.R288Q Missense 6/18 - 5
14-95921995-C-T c.856G>A p.V286I Missense 6/18 - 1
14-95921996-AC-CT c.854_855delinsAG p.G285E Missense 6/18 - 1
14-95921999-C-A c.852G>T p.A284= Synonymous 6/18 - 1
14-95921999-C-G c.852G>C p.A284= Synonymous 6/18 - 2
14-95921999-C-T c.852G>A p.A284= Synonymous 6/18 - 3
14-95922000-G-A c.851C>T p.A284V Missense 6/18 - 4
14-95922000-G-T c.851C>A p.A284E Missense 6/18 - 3
14-95922004-A-C c.847T>G p.S283A Missense 6/18 - 1
14-95922004-A-G c.847T>C p.S283P Missense 6/18 - 1
14-95922007-G-C c.844C>G p.Q282E Missense 6/18 - 1
14-95922018-G-A c.833C>T p.T278M Missense 6/18 - 4
14-95922022-C-T c.829G>A p.E277K Missense 6/18 - 1
14-95922023-C-G c.828G>C p.L276= Synonymous 6/18 - 1
14-95922026-A-T c.825T>A p.S275= Synonymous 6/18 - 1
14-95922034-C-T c.817G>A p.E273K Missense 6/18 - 3
14-95922035-G-A c.816C>T p.G272= Synonymous 6/18 - 4
14-95922035-G-C c.816C>G p.G272= Synonymous 6/18 - 2
14-95922035-G-T c.816C>A p.G272= Synonymous 6/18 - 2
14-95922038-C-A c.813G>T p.R271S Missense 6/18 - 1
14-95922038-C-G c.813G>C p.R271S Missense 6/18 - 1
14-95922039-C-T c.812G>A p.R271K Missense 6/18 - 1
14-95922039-CT-TG c.811_812delinsCA p.R271Q Missense 6/18 - 1
14-95922041-G-A c.810C>T p.P270= Synonymous 6/18 - 1
14-95922043-G-A c.808C>T p.P270S Missense 6/18 - 1
14-95922049-C-A c.802G>T p.D268Y Missense 6/18 - 6
14-95922050-T-A c.801A>T p.K267N Missense 6/18 - 1
14-95922054-G-T c.797C>A p.A266D Missense 6/18 - 1
14-95922056-A-C c.795T>G p.I265M Missense 6/18 - 1
14-95922061-C-A c.790G>T p.D264Y Missense 6/18 - 1
14-95922120-A-G c.790-59T>C - IntronicSNV - 5/17 1
14-95922175-C-A c.790-114G>T - IntronicSNV - 5/17 1
14-95922175-C-T c.790-114G>A - IntronicSNV - 5/17 1
14-95923147-T-C c.789+367A>G - IntronicSNV - 5/17 1
14-95923237-T-C c.789+277A>G - IntronicSNV - 5/17 1
14-95923351-GGT-G c.789+161_789+162del - IntronicDeletion - 5/17 1
14-95923421-CAAAA-C c.789+89_789+92del - IntronicDeletion - 5/17 1
14-95923421-CAAA-C c.789+90_789+92del - IntronicDeletion - 5/17 2
14-95923421-C-CA c.789+92dup - IntronicInsertion - 5/17 1
14-95923464-T-A c.789+50A>T - IntronicSNV - 5/17 1
14-95923470-GACTGT-G c.789+40_789+44del - IntronicDeletion - 5/17 1
14-95923470-ACTGTC-A c.789+39_789+43del - IntronicDeletion - 5/17 2
14-95923521-G-T c.782C>A p.T261K Missense 5/18 - 1
14-95923522-T-A c.781A>T p.T261S Missense 5/18 - 1
14-95923523-G-A c.780C>T p.S260= Synonymous 5/18 - 1
14-95923523-G-C c.780C>G p.S260= Synonymous 5/18 - 1
14-95923523-G-T c.780C>A p.S260= Synonymous 5/18 - 1
14-95923524-GA-AG c.778_779delinsCT p.S260L Missense 5/18 - 1
14-95923530-C-T c.773G>A p.R258H Missense 5/18 - 2
14-95923532-C-A c.771G>T p.Q257H Missense 5/18 - 1
14-95923532-C-T c.771G>A p.Q257= Synonymous 5/18 - 1
14-95923534-G-A c.769C>T p.Q257* Nonsense 5/18 - 2
14-95923534-G-T c.769C>A p.Q257K Missense 5/18 - 1
14-95923536-G-A c.767C>T p.T256M Missense 5/18 - 3
14-95923537-GT-G c.766del p.T256Rfs*50 Frameshift 5/18 - 2
14-95923539-A-G c.764T>C p.I255T Missense 5/18 - 1
14-95923540-T-C c.763A>G p.I255V Missense 5/18 - 1
14-95923542-G-A c.761C>T p.P254L Missense 5/18 - 1
14-95923543-G-A c.760C>T p.P254S Missense 5/18 - 1
14-95923544-C-A c.759G>T p.L253= Synonymous 5/18 - 1
14-95923544-C-G c.759G>C p.L253= Synonymous 5/18 - 1
14-95923544-C-T c.759G>A p.L253= Synonymous 5/18 - 1
14-95923546-G-A c.757C>T p.L253= Synonymous 5/18 - 1
14-95923551-C-A c.752G>T p.C251F Missense 5/18 - 1
14-95923553-G-A c.750C>T p.N250= Synonymous 5/18 - 1
14-95923555-T-G c.748A>C p.N250H Missense 5/18 - 2
14-95923557-C-T c.746G>A p.R249Q Missense 5/18 - 3
14-95923558-G-A c.745C>T p.R249W Missense 5/18 - 1
14-95923561-C-A c.742G>T p.G248W Missense 5/18 - 1
14-95923565-G-A c.738C>T p.C246= Synonymous 5/18 - 1
14-95923567-A-C c.736T>G p.C246G Missense 5/18 - 1
14-95923568-G-T c.735C>A p.G245= Synonymous 5/18 - 1
14-95923573-T-C c.730A>G p.N244D Missense 5/18 - 1
14-95923580-C-T c.723G>A p.E241= Synonymous 5/18 - 1
14-95923584-A-G c.719T>C p.V240A Missense 5/18 - 1
14-95923585-C-T c.718G>A p.V240M Missense 5/18 - 1
14-95923589-C-T c.714G>A p.A238= Synonymous 5/18 - 1
14-95923590-G-A c.713C>T p.A238V Missense 5/18 - 1
14-95923590-G-T c.713C>A p.A238E Missense 5/18 - 4
14-95923598-C-T c.705G>A p.W235* Nonsense 5/18 - 3
14-95923599-C-T c.704G>A p.W235* Nonsense 5/18 - 2
14-95923606-G-A c.697C>T p.Q233* Nonsense 5/18 - 1
14-95923611-T-A c.692A>T p.E231V Missense 5/18 - 1
14-95923612-C-T c.691G>A p.E231K Missense 5/18 - 1
14-95923618-C-A c.685G>T p.V229L Missense 5/18 - 1
14-95923619-A-T c.684T>A p.G228= Synonymous 5/18 - 1
14-95923621-C-T c.682G>A p.G228S Missense 5/18 - 2
14-95923623-G-T c.680C>A p.A227E Missense 5/18 - 2
14-95923624-C-T c.679G>A p.A227T Missense 5/18 - 2
14-95923627-G-C c.676C>G p.Q226E Missense 5/18 - 1
14-95923628-G-C c.675C>G p.Y225* Nonsense 5/18 - 1
14-95923628-G-T c.675C>A p.Y225* Nonsense 5/18 - 1
14-95923630-A-T c.673T>A p.Y225N Missense 5/18 - 1
14-95923631-C-T c.672G>A p.E224= Synonymous 5/18 - 1
14-95923638-T-C c.665A>G p.H222R Missense 5/18 - 1
14-95923638-T-G c.665A>C p.H222P Missense 5/18 - 3
14-95923642-C-T c.661G>A p.E221K Missense 5/18 - 3
14-95923643-CCG-ACA c.658_660delinsTGT p.R220C Missense 5/18 - 1
14-95923644-C-T c.659G>A p.R220Q Missense 5/18 - 2
14-95923645-G-C c.658C>G p.R220G Missense 5/18 - 2
14-95923645-G-T c.658C>A p.R220= Synonymous 5/18 - 1
14-95923646-G-A c.657C>T p.A219= Synonymous 5/18 - 1
14-95923646-G-C c.657C>G p.A219= Synonymous 5/18 - 1
14-95923646-G-T c.657C>A p.A219= Synonymous 5/18 - 1
14-95923648-C-G c.655G>C p.A219P Missense 5/18 - 1
14-95923651-C-T c.652G>A p.V218M Missense 5/18 - 1
14-95923654-G-A c.649C>T p.Q217* Nonsense 5/18 - 1
14-95923656-T-A c.647A>T p.E216V Missense 5/18 - 1
14-95923656-T-C c.647A>G p.E216G Missense 5/18 - 1
14-95923660-G-A c.643C>T p.L215= Synonymous 5/18 - 1
14-95923663-G-T c.640C>A p.L214M Missense 5/18 - 1
14-95923666-C-T c.637G>A p.D213N Missense 5/18 - 1
14-95923670-A-C c.633T>G p.R211= Synonymous 5/18 - 18
14-95923670-AC-TT c.632_633delinsAA p.R211Q Missense 5/18 - 1
14-95923670-A-G c.633T>C p.R211= Synonymous 5/18 - 11
14-95923670-A-T c.633T>A p.R211= Synonymous 5/18 - 11
14-95923671-C-T c.632G>A p.R211H Missense 5/18 - 3
14-95923672-G-A c.631C>T p.R211C Missense 5/18 - 1
14-95923806-T-C c.628-131A>G - IntronicSNV - 4/17 2
14-95931793-G-C c.627+475C>G - IntronicSNV - 4/17 1
14-95931793-G-T c.627+475C>A - IntronicSNV - 4/17 1
14-95932194-G-A c.627+74C>T - IntronicSNV - 4/17 1
14-95932223-A-G c.627+45T>C - IntronicSNV - 4/17 6
14-95932265-C-T c.627+3G>A - IntronicSNV - 4/17 1
14-95932274-C-A c.621G>T p.K207N Missense 4/18 - 2
14-95932274-C-G c.621G>C p.K207N Missense 4/18 - 2
14-95932278-G-A c.617C>T p.A206V Missense 4/18 - 3
14-95932284-A-G c.611T>C p.V204A Missense 4/18 - 1
14-95932284-A-T c.611T>A p.V204E Missense 4/18 - 1
14-95932289-A-C c.606T>G p.D202E Missense 4/18 - 1
14-95932289-A-T c.606T>A p.D202E Missense 4/18 - 1
14-95932291-C-T c.604G>A p.D202N Missense 4/18 - 3
14-95932292-G-A c.603C>T p.Y201= Synonymous 4/18 - 1
14-95932292-G-C c.603C>G p.Y201* Nonsense 4/18 - 2
14-95932292-G-T c.603C>A p.Y201* Nonsense 4/18 - 3
14-95932297-C-A c.598G>T p.E200* Nonsense 4/18 - 2
14-95932304-C-A c.591G>T p.M197I Missense 4/18 - 1
14-95932304-C-G c.591G>C p.M197I Missense 4/18 - 1
14-95932304-C-T c.591G>A p.M197I Missense 4/18 - 2
14-95932308-C-T c.587G>A p.R196K Missense 4/18 - 3
14-95932315-G-A c.580C>T p.Q194* Nonsense 4/18 - 4
14-95932316-G-C c.579C>G p.A193= Synonymous 4/18 - 2
14-95932321-C-G c.574G>C p.D192H Missense 4/18 - 2
14-95932325-G-A c.570C>T p.D190= Synonymous 4/18 - 1
14-95932328-C-A c.567G>T p.V189= Synonymous 4/18 - 1
14-95932330-C-T c.565G>A p.V189M Missense 4/18 - 1
14-95932331-G-A c.564C>T p.S188= Synonymous 4/18 - 1
14-95932339-C-A c.556G>T p.D186Y Missense 4/18 - 1
14-95932340-CCC-GCT c.553_555delinsAGC p.G185S Missense 4/18 - 1
14-95932341-C-T c.554G>A p.G185E Missense 4/18 - 1
14-95932342-C-A c.553G>T p.G185W Missense 4/18 - 2
14-95932343-G-A c.552C>T p.I184= Synonymous 4/18 - 3
14-95932346-C-A c.549G>T p.R183S Missense 4/18 - 1
14-95932346-C-G c.549G>C p.R183S Missense 4/18 - 1
14-95932347-C-A c.548G>T p.R183M Missense 4/18 - 1
14-95932348-T-A c.547A>T p.R183W Missense 4/18 - 2
14-95932355-C-A c.540G>T p.L180= Synonymous 4/18 - 1
14-95932355-C-G c.540G>C p.L180= Synonymous 4/18 - 1
14-95932355-C-T c.540G>A p.L180= Synonymous 4/18 - 2
14-95932357-G-A c.538C>T p.L180= Synonymous 4/18 - 1
14-95932362-G-A c.533C>T p.A178V Missense 4/18 - 1
14-95932367-C-A c.528G>T p.E176D Missense 4/18 - 1
14-95932367-C-G c.528G>C p.E176D Missense 4/18 - 1
14-95932367-C-T c.528G>A p.E176= Synonymous 4/18 - 1
14-95932372-C-G c.523G>C p.E175Q Missense 4/18 - 1
14-95932380-C-T c.515G>A p.R172Q Missense 4/18 - 1
14-95932379-C-A c.516G>T p.R172= Synonymous 4/18 - 1
14-95932379-C-G c.516G>C p.R172= Synonymous 4/18 - 1
14-95932379-C-T c.516G>A p.R172= Synonymous 4/18 - 1
14-95932381-G-A c.514C>T p.R172W Missense 4/18 - 1
14-95932381-G-T c.514C>A p.R172= Synonymous 4/18 - 1
14-95932395-G-A c.500C>T p.A167V Missense 4/18 - 1
14-95932396-C-T c.499G>A p.A167T Missense 4/18 - 1
14-95932397-C-T c.498G>A p.Q166= Synonymous 4/18 - 2
14-95932399-G-C c.496C>G p.Q166E Missense 4/18 - 1
14-95932399-G-T c.496C>A p.Q166K Missense 4/18 - 2
14-95932401-T-G c.494A>C p.N165T Missense 4/18 - 1
14-95932405-C-T c.490G>A p.D164N Missense 4/18 - 1
14-95932409-G-A c.486C>T p.N162= Synonymous 4/18 - 1
14-95932409-G-T c.486C>A p.N162K Missense 4/18 - 1
14-95932414-G-A c.481C>T p.H161Y Missense 4/18 - 1
14-95932415-CAG-AAA c.478_480delinsTTT p.L160F Missense 4/18 - 1
14-95932418-C-A c.477G>T p.L159= Synonymous 4/18 - 1
14-95932420-G-T c.475C>A p.L159M Missense 4/18 - 1
14-95932423-C-T c.472G>A p.V158M Missense 4/18 - 1
14-95932427-G-A c.468C>T p.A156= Synonymous 4/18 - 1
14-95932427-G-C c.468C>G p.A156= Synonymous 4/18 - 1
14-95932427-G-T c.468C>A p.A156= Synonymous 4/18 - 1
14-95932428-G-A c.467C>T p.A156V Missense 4/18 - 1
14-95932430-G-A c.465C>T p.H155= Synonymous 4/18 - 3
14-95932442-C-T c.453G>A p.W151* Nonsense 4/18 - 2
14-95932443-C-T c.452G>A p.W151* Nonsense 4/18 - 2
14-95932447-G-C c.448C>G p.Q150E Missense 4/18 - 2
14-95932450-T-C c.445A>G p.K149E Missense 4/18 - 1
14-95932451-C-T c.444G>A p.E148= Synonymous 4/18 - 4
14-95932452-T-C c.443A>G p.E148G Missense 4/18 - 1
14-95932464-AG-CA c.430_431delinsTG p.L144W Missense 4/18 - 1
14-95932465-G-A c.430C>T p.L144= Synonymous 4/18 - 2
14-95932472-C-A c.423G>T p.E141D Missense 4/18 - 3
14-95932472-C-G c.423G>C p.E141D Missense 4/18 - 1
14-95932474-C-T c.421G>A p.E141K Missense 4/18 - 2
14-95932475-G-A c.420C>T p.I140= Synonymous 4/18 - 3
14-95932475-G-C c.420C>G p.I140M Missense 4/18 - 1
14-95932475-G-T c.420C>A p.I140= Synonymous 4/18 - 1
14-95932477-T-A c.418A>T p.I140F Missense 4/18 - 1
14-95932477-T-C c.418A>G p.I140V Missense 4/18 - 3
14-95932479-T-A c.416A>T p.H139L Missense 4/18 - 2
14-95932480-G-T c.415C>A p.H139N Missense 4/18 - 1
14-95932482-G-A c.413C>T p.P138L Missense 4/18 - 1
14-95932486-C-T c.409G>A p.E137K Missense 4/18 - 1
14-95932488-AG-TA c.406_407delinsTA p.L136* Nonsense 4/18 - 1
14-95932493-G-T c.402C>A p.V134= Synonymous 4/18 - 1
14-95932496-C-T c.399G>A p.M133I Missense 4/18 - 1
14-95932499-C-T c.396G>A p.M132I Missense 4/18 - 1
14-95932502-C-A c.393G>T p.K131N Missense 4/18 - 1
14-95932507-G-A c.388C>T p.Q130* Nonsense 4/18 - 1
14-95932514-GCG-TCA c.379_381delinsTGA p.R127* Nonsense 4/18 - 1
14-95932515-C-T c.380G>A p.R127H Missense 4/18 - 1
14-95932517-G-A c.378C>T p.Y126= Synonymous 4/18 - 1
14-95932520-G-A c.375C>T p.F125= Synonymous 4/18 - 1
14-95932520-G-T c.375C>A p.F125L Missense 4/18 - 1
14-95932526-A-C c.369T>G p.D123E Missense 4/18 - 1
14-95932526-A-T c.369T>A p.D123E Missense 4/18 - 1
14-95932531-G-A c.364C>T p.R122* Nonsense 4/18 - 1
14-95932532-G-A c.363C>T p.A121= Synonymous 4/18 - 2
14-95932532-G-C c.363C>G p.A121= Synonymous 4/18 - 1
14-95932532-G-T c.363C>A p.A121= Synonymous 4/18 - 1
14-95932533-G-A c.362C>T p.A121V Missense 4/18 - 1
14-95932538-C-G c.357G>C p.L119= Synonymous 4/18 - 2
14-95932540-G-A c.355C>T p.L119= Synonymous 4/18 - 1
14-95932545-T-C c.350A>G p.E117G Missense 4/18 - 1
14-95932546-C-T c.349G>A p.E117K Missense 4/18 - 2
14-95932549-T-C c.346A>G p.S116G Missense 4/18 - 1
14-95932555-G-T c.340C>A p.H114N Missense 4/18 - 1
14-95932558-G-T c.337C>A p.L113M Missense 4/18 - 1
14-95932565-C-A c.330G>T p.W110C Missense 4/18 - 1
14-95932565-C-G c.330G>C p.W110C Missense 4/18 - 1
14-95932566-C-G c.329G>C p.W110S Missense 4/18 - 1
14-95932570-C-T c.325G>A p.E109K Missense 4/18 - 3
14-95932575-C-T c.320G>A p.R107H Missense 4/18 - 2
14-95932576-G-C c.319C>G p.R107G Missense 4/18 - 3
14-95932628-T-A c.318-51A>T - IntronicSNV - 3/17 6
14-95932628-T-C c.318-51A>G - IntronicSNV - 3/17 6
14-95933987-G-A c.317+145C>T - IntronicSNV - 3/17 1
14-95934128-C-T c.317+4G>A - IntronicSNV - 3/17 2
14-95934132-C-A c.317G>T p.S106I Missense 3/18 - 2
14-95934141-T-A c.308A>T p.H103L Missense 3/18 - 1
14-95934142-G-T c.307C>A p.H103N Missense 3/18 - 1
14-95934145-T-G c.304A>C p.T102P Missense 3/18 - 1
14-95934146-C-G c.303G>C p.M101I Missense 3/18 - 1
14-95934153-G-A c.296C>T p.T99I Missense 3/18 - 3
14-95934155-G-A c.294C>T p.V98= Synonymous 3/18 - 1
14-95934155-G-C c.294C>G p.V98= Synonymous 3/18 - 1
14-95934155-G-T c.294C>A p.V98= Synonymous 3/18 - 1
14-95934159-G-A c.290C>T p.T97I Missense 3/18 - 1
14-95934166-C-T c.283G>A p.E95K Missense 3/18 - 1
14-95934167-C-T c.282G>A p.W94* Nonsense 3/18 - 2
14-95934168-C-T c.281G>A p.W94* Nonsense 3/18 - 1
14-95934171-T-G c.278A>C p.Q93P Missense 3/18 - 1
14-95934172-G-C c.277C>G p.Q93E Missense 3/18 - 1
14-95934172-G-T c.277C>A p.Q93K Missense 3/18 - 2
14-95934175-C-A c.274G>T p.A92S Missense 3/18 - 5
14-95934175-C-T c.274G>A p.A92T Missense 3/18 - 1
14-95934179-G-A c.270C>T p.I90= Synonymous 3/18 - 1
14-95934179-G-T c.270C>A p.I90= Synonymous 3/18 - 1
14-95934186-T-C c.263A>G p.K88R Missense 3/18 - 1
14-95934188-C-T c.261G>A p.L87= Synonymous 3/18 - 1
14-95934189-AG-TA c.259_260delinsTA p.L87* Nonsense 3/18 - 1
14-95934192-C-A c.257G>T p.R86L Missense 3/18 - 1
14-95934192-CG-GT c.256_257delinsAC p.R86T Missense 3/18 - 1
14-95934192-CG-TA c.256_257delinsTA p.R86* Nonsense 3/18 - 1
14-95934192-C-T c.257G>A p.R86Q Missense 3/18 - 1
14-95934193-G-A c.256C>T p.R86W Missense 3/18 - 3
14-95934194-G-A c.255C>T p.A85= Synonymous 3/18 - 1
14-95934195-G-A c.254C>T p.A85V Missense 3/18 - 2
14-95934195-G-C c.254C>G p.A85G Missense 3/18 - 1
14-95934202-T-C c.247A>G p.I83V Missense 3/18 - 1
14-95934203-C-A c.246G>T p.G82= Synonymous 3/18 - 2
14-95934203-C-G c.246G>C p.G82= Synonymous 3/18 - 2
14-95934203-C-T c.246G>A p.G82= Synonymous 3/18 - 2
14-95934205-C-G c.244G>C p.G82R Missense 3/18 - 1
14-95934205-C-T c.244G>A p.G82R Missense 3/18 - 1
14-95934206-G-A c.243C>T p.P81= Synonymous 3/18 - 1
14-95934207-G-A c.242C>T p.P81L Missense 3/18 - 1
14-95934214-G-T c.235C>A p.Q79K Missense 3/18 - 1
14-95934216-T-C c.233A>G p.D78G Missense 3/18 - 2
14-95934218-C-A c.231G>T p.G77= Synonymous 3/18 - 1
14-95934220-C-G c.229G>C p.G77R Missense 3/18 - 1
14-95934220-C-T c.229G>A p.G77R Missense 3/18 - 1
14-95934221-A-C c.228T>G p.P76= Synonymous 3/18 - 1
14-95934221-A-G c.228T>C p.P76= Synonymous 3/18 - 1
14-95934221-A-T c.228T>A p.P76= Synonymous 3/18 - 1
14-95934224-G-A c.225C>T p.C75= Synonymous 3/18 - 1
14-95934224-G-T c.225C>A p.C75* Nonsense 3/18 - 1
14-95934229-A-G c.220T>C p.C74R Missense 3/18 - 1
14-95934231-GC-TG c.217_218delinsCA p.A73Q Missense 3/18 - 1
14-95934232-C-T c.217G>A p.A73T Missense 3/18 - 1
14-95934236-G-A c.213C>T p.L71= Synonymous 3/18 - 1
14-95934240-G-A c.209C>T p.A70V Missense 3/18 - 2
14-95934241-CT-C c.207del p.A70Pfs*18 Frameshift 3/18 - 1
14-95934256-G-T c.193C>A p.L65I Missense 3/18 - 1
14-95934257-CAC-GAT c.190_192delinsATC p.V64I Missense 3/18 - 2
14-95934259-C-T c.190G>A p.V64M Missense 3/18 - 2
14-95934260-G-A c.189C>T p.L63= Synonymous 3/18 - 2
14-95934260-G-C c.189C>G p.L63= Synonymous 3/18 - 1
14-95934260-G-T c.189C>A p.L63= Synonymous 3/18 - 1
14-95934262-G-C c.187C>G p.L63V Missense 3/18 - 1
14-95934264-T-G c.185A>C p.D62A Missense 3/18 - 1
14-95934266-C-T c.183G>A p.V61= Synonymous 3/18 - 1
14-95934274-C-A c.175G>T p.V59L Missense 3/18 - 1
14-95934274-C-G c.175G>C p.V59L Missense 3/18 - 1
14-95934276-C-G c.173G>C p.R58P Missense 3/18 - 2
14-95934276-C-T c.173G>A p.R58H Missense 3/18 - 1
14-95934279-C-G c.170G>C p.G57A Missense 3/18 - 1
14-95934283-C-T c.166G>A p.E56K Missense 3/18 - 5
14-95934286-G-A c.163C>T p.P55S Missense 3/18 - 1
14-95934289-C-T c.160G>A p.E54K Missense 3/18 - 1
14-95934293-C-T c.156G>A p.Q52= Synonymous 3/18 - 1
14-95934294-T-A c.155A>T p.Q52L Missense 3/18 - 1
14-95934295-G-A c.154C>T p.Q52* Nonsense 3/18 - 5
14-95934296-G-A c.153C>T p.C51= Synonymous 3/18 - 1
14-95934297-C-A c.152G>T p.C51F Missense 3/18 - 1
14-95934297-C-T c.152G>A p.C51Y Missense 3/18 - 1
14-95934298-A-G c.151T>C p.C51R Missense 3/18 - 1
14-95934301-T-A c.148A>T p.I50L Missense 3/18 - 1
14-95934304-T-G c.145A>C p.K49Q Missense 3/18 - 1
14-95937021-A-G c.145-2717T>C - IntronicSNV - 2/17 1
14-95939994-A-G c.144+2021T>C - IntronicSNV - 2/17 1
14-95940232-A-G c.144+1783T>C - IntronicSNV - 2/17 1
14-95940912-G-A c.144+1103C>T - IntronicSNV - 2/17 1
14-95941923-G-A c.144+92C>T - IntronicSNV - 2/17 1
14-95941967-G-A c.144+48C>T - IntronicSNV - 2/17 1
14-95941967-G-T c.144+48C>A - IntronicSNV - 2/17 1
14-95942002-C-A c.144+13G>T - IntronicSNV - 2/17 2
14-95942002-C-T c.144+13G>A - IntronicSNV - 2/17 2
14-95942013-A-G c.144+2T>C - IntronicSNV - 2/17 1
14-95942015-C-T c.144G>A p.E48= Synonymous 2/18 - 1
14-95942019-GT-TC c.139_140delinsGA p.T47D Missense 2/18 - 3
14-95942020-T-C c.139A>G p.T47A Missense 2/18 - 1
14-95942024-C-T c.135G>A p.W45* Nonsense 2/18 - 1
14-95942025-C-A c.134G>T p.W45L Missense 2/18 - 1
14-95942025-C-T c.134G>A p.W45* Nonsense 2/18 - 1
14-95942026-A-G c.133T>C p.W45R Missense 2/18 - 1
14-95942027-CAG-GAT c.130_132delinsATC p.L44I Missense 2/18 - 1
14-95942034-G-A c.125C>T p.A42V Missense 2/18 - 1
14-95942034-GC-TA c.124_125delinsTA p.A42Y Missense 2/18 - 1
14-95942035-C-A c.124G>T p.A42S Missense 2/18 - 1
14-95942038-C-T c.121G>A p.E41K Missense 2/18 - 1
14-95942044-C-T c.115G>A p.A39T Missense 2/18 - 2
14-95942046-G-A c.113C>T p.A38V Missense 2/18 - 2
14-95942046-G-T c.113C>A p.A38E Missense 2/18 - 1
14-95942049-C-T c.110G>A p.R37H Missense 2/18 - 1
14-95942050-G-A c.109C>T p.R37C Missense 2/18 - 1
14-95942054-T-A c.105A>T p.G35= Synonymous 2/18 - 1
14-95942056-C-T c.103G>A p.G35R Missense 2/18 - 2
14-95942057-C-A c.102G>T p.Q34H Missense 2/18 - 1
14-95942057-C-G c.102G>C p.Q34H Missense 2/18 - 1
14-95942060-C-A c.99G>T p.T33= Synonymous 2/18 - 3
14-95942060-C-G c.99G>C p.T33= Synonymous 2/18 - 1
14-95942060-C-T c.99G>A p.T33= Synonymous 2/18 - 1
14-95942067-T-G c.92A>C p.D31A Missense 2/18 - 1
14-95942070-T-C c.89A>G p.N30S Missense 2/18 - 1
14-95942074-C-G c.85G>C p.V29L Missense 2/18 - 4
14-95942077-G-T c.82C>A p.Q28K Missense 2/18 - 1
14-95942078-C-T c.81G>A p.L27= Synonymous 2/18 - 1
14-95942083-TGG-T c.75_76del p.D25Efs*6 Frameshift 2/18 - 1
14-95942086-C-A c.73G>T p.D25Y Missense 2/18 - 2
14-95942092-C-G c.67G>C p.V23L Missense 2/18 - 1
14-95942096-C-A c.63G>T p.K21N Missense 2/18 - 1
14-95942096-C-G c.63G>C p.K21N Missense 2/18 - 1
14-95942097-T-A c.62A>T p.K21M Missense 2/18 - 2
14-95942099-C-T c.60G>A p.M20I Missense 2/18 - 1
14-95942103-C-A c.56G>T p.W19L Missense 2/18 - 1
14-95942105-TGC-AAA c.52_54delinsTTT p.A18F Missense 2/18 - 1
14-95942106-G-A c.53C>T p.A18V Missense 2/18 - 3
14-95942106-GC-AG c.52_53delinsCT p.A18L Missense 2/18 - 1
14-95942107-C-G c.52G>C p.A18P Missense 2/18 - 1
14-95942108-C-A c.51G>T p.Q17H Missense 2/18 - 1
14-95942108-C-G c.51G>C p.Q17H Missense 2/18 - 1
14-95942109-T-C c.50A>G p.Q17R Missense 2/18 - 1
14-95942109-T-G c.50A>C p.Q17P Missense 2/18 - 2
14-95942110-G-A c.49C>T p.Q17* Nonsense 2/18 - 1
14-95942111-GG-CT c.47_48delinsAG p.A16E Missense 2/18 - 1
14-95942111-GGC-TTA c.46_48delinsTAA p.A16* Nonsense 2/18 - 1
14-95942120-CAC-AAA c.37_39delinsTTT p.V13F Missense 2/18 - 1
14-95942122-C-A c.37G>T p.V13L Missense 2/18 - 1
14-95942123-CG-C c.36del p.S12Rfs*9 Frameshift 2/18 - 1
14-95942124-CT-GG c.34_35delinsCC p.S12P Missense 2/18 - 1
14-95942127-C-T c.32G>A p.R11K Missense 2/18 - 1
14-95942128-T-C c.31A>G p.R11G Missense 2/18 - 1
14-95942133-A-T c.26T>A p.F9Y Missense 2/18 - 1
14-95942137-C-T c.22G>A p.D8N Missense 2/18 - 1
14-95942141-C-A c.18G>T p.Q6H Missense 2/18 - 1
14-95942141-C-G c.18G>C p.Q6H Missense 2/18 - 1
14-95942145-G-A c.14C>T p.P5L Missense 2/18 - 1
14-95942147-C-A c.12G>T p.Q4H Missense 2/18 - 1
14-95942147-C-G c.12G>C p.Q4H Missense 2/18 - 1
14-95942154-G-C c.5C>G p.T2S Missense 2/18 - 1
14-95942155-T-A c.4A>T p.T2S Missense 2/18 - 1
14-95942157-A-G c.2T>C p.M1? Missense 2/18 - 1
14-95942211-T-C c.-14-39A>G - IntergenicSNV - 1/17 2
14-95942219-G-A c.-14-47C>T - IntergenicSNV - 1/17 1
14-95942221-T-C c.-14-49A>G - IntergenicSNV - 1/17 1
14-95942238-C-T c.-14-66G>A - IntergenicSNV - 1/17 1
14-95942447-A-C c.-14-275T>G - IntergenicSNV - 1/17 1
14-95943548-T-C c.-14-1376A>G - IntergenicSNV - 1/17 1
14-95946995-C-A c.-14-4823G>T - IntergenicSNV - 1/17 1
14-95946995-C-G c.-14-4823G>C - IntergenicSNV - 1/17 1
14-95946995-C-T c.-14-4823G>A - IntergenicSNV - 1/17 1
14-95947656-G-A c.-14-5484C>T - IntergenicSNV - 1/17 1
14-95956326-G-A c.-14-14154C>T - IntergenicSNV - 1/17 1
14-95956572-G-C c.-14-14400C>G - IntergenicSNV - 1/17 1
14-95956875-T-C c.-14-14703A>G - IntergenicSNV - 1/17 1
14-95957694-T-G c.-14-15522A>C - IntergenicSNV - 1/17 1
14-95962813-G-A c.-15+20120C>T - intron_variant - 1/17 2
14-95962813-G-C c.-15+20120C>G - intron_variant - 1/17 2
14-95972435-A-G c.-15+10498T>C - intron_variant - 1/17 1
14-95972448-A-G c.-15+10485T>C - intron_variant - 1/17 1
14-95972448-A-T c.-15+10485T>A - intron_variant - 1/17 1
14-95976755-T-G c.-15+6178A>C - intron_variant - 1/17 1
14-95980406-G-A c.-15+2527C>T - intron_variant - 1/17 1