NOTCH1

NOTCH1 notch receptor 1

Annotation transcript: NM_017617.5

8730 unique variant annotations were identified in 3084 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
9-139389127-G-A c.*1396C>T - 3-UTRSNV 34/34 - 1
9-139389184-A-G c.*1339T>C - 3-UTRSNV 34/34 - 13
9-139389432-C-T c.*1091G>A - 3-UTRSNV 34/34 - 5
9-139390145-T-C c.*378A>G - 3-UTRSNV 34/34 - 2
9-139390152-T-C c.*371A>G - 3-UTRSNV 34/34 - 2
9-139390397-C-T c.*126G>A - 3-UTRSNV 34/34 - 24
9-139390517-C-T c.*6G>A - 3-UTRSNV 34/34 - 1
9-139390525-A-G c.7666T>C p.*2556Qext*75 Missense 34/34 - 1
9-139390526-CT-C c.7664del p.K2555Sfs*34 Frameshift 34/34 - 1
9-139390530-A-G c.7661T>C p.F2554S Missense 34/34 - 1
9-139390532-G-A c.7659C>T p.A2553= Synonymous 34/34 - 2
9-139390532-G-C c.7659C>G p.A2553= Synonymous 34/34 - 2
9-139390532-G-T c.7659C>A p.A2553= Synonymous 34/34 - 2
9-139390533-G-C c.7658C>G p.A2553G Missense 34/34 - 1
9-139390533-G-T c.7658C>A p.A2553D Missense 34/34 - 1
9-139390534-C-T c.7657G>A p.A2553T Missense 34/34 - 1
9-139390535-C-CA c.7655_7656insT p.E2552Dfs*54 Frameshift 34/34 - 1
9-139390537-C-T c.7654G>A p.E2552K Missense 34/34 - 2
9-139390536-TC-T c.7654del p.E2552Rfs*37 Frameshift 34/34 - 1
9-139390539-G-A c.7652C>T p.P2551L Missense 34/34 - 5
9-139390539-G-T c.7652C>A p.P2551Q Missense 34/34 - 1
9-139390538-CG-C c.7652del p.P2551Rfs*38 Frameshift 34/34 - 2
9-139390543-T-C c.7648A>G p.I2550V Missense 34/34 - 3
9-139390545-C-T c.7646G>A p.R2549H Missense 34/34 - 2
9-139390546-G-A c.7645C>T p.R2549C Missense 34/34 - 6
9-139390548-G-GGA c.7642_7643insTC p.A2548Vfs*42 Frameshift 34/34 - 1
9-139390549-C-A c.7642G>T p.A2548S Missense 34/34 - 1
9-139390549-C-T c.7642G>A p.A2548T Missense 34/34 - 6
9-139390552-T-G c.7639A>C p.I2547L Missense 34/34 - 1
9-139390553-C-T c.7638G>A p.Q2546= Synonymous 34/34 - 1
9-139390557-G-A c.7634C>T p.S2545F Missense 34/34 - 2
9-139390558-A-C c.7633T>G p.S2545A Missense 34/34 - 1
9-139390561-G-A c.7630C>T p.Q2544* Nonsense 34/34 - 3
9-139390561-G-T c.7630C>A p.Q2544K Missense 34/34 - 1
9-139390562-C-A c.7629G>T p.M2543I Missense 34/34 - 3
9-139390562-C-G c.7629G>C p.M2543I Missense 34/34 - 3
9-139390562-C-T c.7629G>A p.M2543I Missense 34/34 - 2
9-139390563-A-T c.7628T>A p.M2543K Missense 34/34 - 1
9-139390564-T-C c.7627A>G p.M2543V Missense 34/34 - 1
9-139390564-T-G c.7627A>C p.M2543L Missense 34/34 - 1
9-139390565-G-C c.7626C>G p.S2542R Missense 34/34 - 4
9-139390565-G-T c.7626C>A p.S2542R Missense 34/34 - 2
9-139390565-TG-T c.7626del p.S2542Rfs*47 Frameshift 34/34 - 1
9-139390567-T-G c.7624A>C p.S2542R Missense 34/34 - 3
9-139390566-C-G c.7625G>C p.S2542T Missense 34/34 - 1
9-139390567-T-C c.7624A>G p.S2542G Missense 34/34 - 1
9-139390570-T-G c.7621A>C p.T2541P Missense 34/34 - 2
9-139390572-G-A c.7619C>T p.P2540L Missense 34/34 - 2
9-139390572-G-T c.7619C>A p.P2540H Missense 34/34 - 2
9-139390570-TG-T c.7620del p.T2541Pfs*48 Frameshift 34/34 - 1
9-139390573-G-A c.7618C>T p.P2540S Missense 34/34 - 1
9-139390573-G-T c.7618C>A p.P2540T Missense 34/34 - 1
9-139390574-A-T c.7617T>A p.P2539= Synonymous 34/34 - 1
9-139390574-AG-A c.7616del p.P2539Lfs*50 Frameshift 34/34 - 1
9-139390577-G-A c.7614C>T p.S2538= Synonymous 34/34 - 2
9-139390578-C-G c.7613G>C p.S2538T Missense 34/34 - 1
9-139390578-C-T c.7613G>A p.S2538N Missense 34/34 - 1
9-139390578-CT-GC c.7612_7613delinsGC p.S2538A Missense 34/34 - 1
9-139390579-T-G c.7612A>C p.S2538R Missense 34/34 - 1
9-139390579-TG-T c.7611del p.S2538Afs*51 Frameshift 34/34 - 1
9-139390581-G-A c.7610C>T p.S2537F Missense 34/34 - 1
9-139390581-G-C c.7610C>G p.S2537C Missense 34/34 - 1
9-139390581-G-T c.7610C>A p.S2537Y Missense 34/34 - 1
9-139390582-A-T c.7609T>A p.S2537T Missense 34/34 - 1
9-139390584-A-C c.7607T>G p.V2536G Missense 34/34 - 1
9-139390584-A-G c.7607T>C p.V2536A Missense 34/34 - 1
9-139390584-A-T c.7607T>A p.V2536D Missense 34/34 - 1
9-139390585-C-G c.7606G>C p.V2536L Missense 34/34 - 5
9-139390585-C-T c.7606G>A p.V2536I Missense 34/34 - 13
9-139390586-G-A c.7605C>T p.G2535= Synonymous 34/34 - 2
9-139390586-G-C c.7605C>G p.G2535= Synonymous 34/34 - 2
9-139390586-G-T c.7605C>A p.G2535= Synonymous 34/34 - 2
9-139390587-C-T c.7604G>A p.G2535D Missense 34/34 - 3
9-139390588-C-A c.7603G>T p.G2535C Missense 34/34 - 1
9-139390586-GC-G c.7604del p.G2535Afs*54 Frameshift 34/34 - 1
9-139390589-C-A c.7602G>T p.E2534D Missense 34/34 - 1
9-139390589-C-G c.7602G>C p.E2534D Missense 34/34 - 1
9-139390589-C-T c.7602G>A p.E2534= Synonymous 34/34 - 2
9-139390590-T-C c.7601A>G p.E2534G Missense 34/34 - 1
9-139390590-T-G c.7601A>C p.E2534A Missense 34/34 - 1
9-139390591-C-G c.7600G>C p.E2534Q Missense 34/34 - 1
9-139390591-C-T c.7600G>A p.E2534K Missense 34/34 - 9
9-139390592-G-A c.7599C>T p.S2533= Synonymous 34/34 - 1
9-139390591-CG-C c.7599del p.E2534Rfs*55 Frameshift 34/34 - 1
9-139390593-GA-TT c.7597_7598delinsAA p.S2533N Missense 34/34 - 1
9-139390593-G-T c.7598C>A p.S2533Y Missense 34/34 - 1
9-139390595-C-T c.7596G>A p.W2532* Nonsense 34/34 - 2
9-139390597-A-T c.7594T>A p.W2532R Missense 34/34 - 1
9-139390598-G-C c.7593C>G p.D2531E Missense 34/34 - 1
9-139390598-G-T c.7593C>A p.D2531E Missense 34/34 - 1
9-139390599-T-G c.7592A>C p.D2531A Missense 34/34 - 1
9-139390600-C-G c.7591G>C p.D2531H Missense 34/34 - 2
9-139390600-C-T c.7591G>A p.D2531N Missense 34/34 - 2
9-139390601-G-A c.7590C>T p.S2530= Synonymous 34/34 - 1
9-139390601-G-C c.7590C>G p.S2530= Synonymous 34/34 - 1
9-139390601-G-T c.7590C>A p.S2530= Synonymous 34/34 - 1
9-139390600-C-CG c.7590dup p.D2531Rfs*75 Frameshift 34/34 - 1
9-139390602-G-A c.7589C>T p.S2530F Missense 34/34 - 1
9-139390602-G-C c.7589C>G p.S2530C Missense 34/34 - 1
9-139390602-G-T c.7589C>A p.S2530Y Missense 34/34 - 1
9-139390603-A-G c.7588T>C p.S2530P Missense 34/34 - 1
9-139390603-A-T c.7588T>A p.S2530T Missense 34/34 - 1
9-139390604-GAC-CAT c.7585_7587delinsATG p.V2529M Missense 34/34 - 1
9-139390606-C-G c.7585G>C p.V2529L Missense 34/34 - 2
9-139390606-C-T c.7585G>A p.V2529I Missense 34/34 - 4
9-139390609-T-G c.7582A>C p.N2528H Missense 34/34 - 1
9-139390609-TG-T c.7581del p.N2528Tfs*61 Frameshift 34/34 - 1
9-139390611-G-A c.7580C>T p.S2527F Missense 34/34 - 1
9-139390611-G-T c.7580C>A p.S2527Y Missense 34/34 - 3
9-139390612-A-C c.7579T>G p.S2527A Missense 34/34 - 1
9-139390613-A-T c.7578T>A p.H2526Q Missense 34/34 - 1
9-139390614-T-G c.7577A>C p.H2526P Missense 34/34 - 1
9-139390615-G-A c.7576C>T p.H2526Y Missense 34/34 - 1
9-139390616-C-A c.7575G>T p.P2525= Synonymous 34/34 - 2
9-139390616-C-G c.7575G>C p.P2525= Synonymous 34/34 - 2
9-139390616-C-T c.7575G>A p.P2525= Synonymous 34/34 - 3
9-139390617-G-A c.7574C>T p.P2525L Missense 34/34 - 4
9-139390617-G-GA c.7573_7574insT p.P2525Lfs*81 Frameshift 34/34 - 1
9-139390618-G-A c.7573C>T p.P2525S Missense 34/34 - 3
9-139390618-G-T c.7573C>A p.P2525T Missense 34/34 - 1
9-139390616-C-CG c.7574dup p.H2526Afs*80 Frameshift 34/34 - 2
9-139390616-CG-C c.7574del p.P2525Rfs*64 Frameshift 34/34 - 1
9-139390620-G-A c.7571C>T p.S2524F Missense 34/34 - 1
9-139390620-GGA-G c.7570_7571del p.S2524Pfs*81 Frameshift 34/34 - 1
9-139390620-G-T c.7571C>A p.S2524Y Missense 34/34 - 1
9-139390621-A-C c.7570T>G p.S2524A Missense 34/34 - 1
9-139390621-A-G c.7570T>C p.S2524P Missense 34/34 - 1
9-139390621-GACGAGCTGGACCACT-G c.7556_7570del p.Q2519_S2524delinsP MultiAAMissense 34/34 - 1
9-139390622-C-A c.7569G>T p.S2523= Synonymous 34/34 - 1
9-139390622-C-G c.7569G>C p.S2523= Synonymous 34/34 - 1
9-139390622-C-T c.7569G>A p.S2523= Synonymous 34/34 - 2
9-139390623-CG-C c.7568del p.S2523Cfs*66 Frameshift 34/34 - 1
9-139390623-G-A c.7568C>T p.S2523L Missense 34/34 - 12
9-139390623-G-T c.7568C>A p.S2523* Nonsense 34/34 - 3
9-139390624-A-C c.7567T>G p.S2523A Missense 34/34 - 1
9-139390624-A-T c.7567T>A p.S2523T Missense 34/34 - 1
9-139390625-G-C c.7566C>G p.S2522R Missense 34/34 - 1
9-139390625-G-T c.7566C>A p.S2522R Missense 34/34 - 1
9-139390626-C-G c.7565G>C p.S2522T Missense 34/34 - 2
9-139390627-T-A c.7564A>T p.S2522C Missense 34/34 - 2
9-139390627-T-C c.7564A>G p.S2522G Missense 34/34 - 1
9-139390627-T-G c.7564A>C p.S2522R Missense 34/34 - 2
9-139390629-G-A c.7562C>T p.S2521F Missense 34/34 - 9
9-139390629-G-C c.7562C>G p.S2521C Missense 34/34 - 1
9-139390629-G-T c.7562C>A p.S2521Y Missense 34/34 - 1
9-139390630-A-G c.7561T>C p.S2521P Missense 34/34 - 1
9-139390630-GACCA-G c.7558_7561del p.W2520Pfs*68 Frameshift 34/34 - 1
9-139390631-C-T c.7560G>A p.W2520* Nonsense 34/34 - 2
9-139390632-C-A c.7559G>T p.W2520L Missense 34/34 - 1
9-139390632-C-T c.7559G>A p.W2520* Nonsense 34/34 - 4
9-139390633-A-T c.7558T>A p.W2520R Missense 34/34 - 1
9-139390634-C-A c.7557G>T p.Q2519H Missense 34/34 - 1
9-139390634-C-G c.7557G>C p.Q2519H Missense 34/34 - 1
9-139390636-G-A c.7555C>T p.Q2519* Nonsense 34/34 - 4
9-139390637-G-A c.7554C>T p.D2518= Synonymous 34/34 - 1
9-139390637-G-GT c.7553dup p.D2518Efs*88 Frameshift 34/34 - 1
9-139390638-T-G c.7553A>C p.D2518A Missense 34/34 - 1
9-139390639-C-A c.7552G>T p.D2518Y Missense 34/34 - 1
9-139390640-AGG-TTA c.7549_7551delinsTAA p.P2517* Nonsense 34/34 - 1
9-139390639-CAGGGG-C c.7547_7551del p.S2516* Frameshift 34/34 - 1
9-139390641-AGGGGACTC-A c.7543_7550del p.E2515* Frameshift 34/34 - 1
9-139390641-G-C c.7550C>G p.P2517R Missense 34/34 - 2
9-139390643-G-A c.7548C>T p.S2516= Synonymous 34/34 - 5
9-139390643-GGACTC-TGGTAA c.7543_7548delinsTTACCA p.E2515_S2516delinsLP MultiAAMissense 34/34 - 1
9-139390640-AG-A c.7550del p.P2517Lfs*72 Frameshift 34/34 - 2
9-139390644-G-A c.7547C>T p.S2516F Missense 34/34 - 4
9-139390644-G-T c.7547C>A p.S2516Y Missense 34/34 - 1
9-139390645-A-C c.7546T>G p.S2516A Missense 34/34 - 2
9-139390645-A-G c.7546T>C p.S2516P Missense 34/34 - 1
9-139390645-A-T c.7546T>A p.S2516T Missense 34/34 - 1
9-139390646-C-G c.7545G>C p.E2515D Missense 34/34 - 1
9-139390647-T-A c.7544A>T p.E2515V Missense 34/34 - 1
9-139390647-T-C c.7544A>G p.E2515G Missense 34/34 - 1
9-139390648-C-A c.7543G>T p.E2515* Nonsense 34/34 - 9
9-139390648-C-CT c.7542_7543insA p.E2515Rfs*4 Frameshift 34/34 - 1
9-139390648-C-T c.7543G>A p.E2515K Missense 34/34 - 1
9-139390648-TCAGG-T c.7540_7543del p.P2514Sfs*74 Frameshift 34/34 - 1
9-139390648-TCAG-T c.7541_7543del p.P2514_E2515delinsQ MultiAAMissense 34/34 - 1
9-139390648-C-CACTCACCA c.7542_7543insTGGTGAGT p.E2515Wfs*2 Frameshift 34/34 - 1
9-139390649-A-G c.7542T>C p.P2514= Synonymous 34/34 - 1
9-139390649-CAG-C c.7541_7542del p.P2514Rfs*4 Frameshift 34/34 - 100
9-139390649-CAGG-C c.7540_7542del p.P2514del InFrameDeletion 34/34 - 1
9-139390650-G-A c.7541C>T p.P2514L Missense 34/34 - 4
9-139390650-G-C c.7541C>G p.P2514R Missense 34/34 - 4
9-139390650-GG-AA c.7540_7541delinsTT p.P2514F Missense 34/34 - 1
9-139390650-G-T c.7541C>A p.P2514H Missense 34/34 - 1
9-139390651-G-GTTTA c.7539_7540insTAAA p.P2514* Nonsense 34/34 - 1
9-139390651-G-T c.7540C>A p.P2514T Missense 34/34 - 7
9-139390649-AGG-A c.7540_7541del p.P2514* Frameshift 34/34 - 1
9-139390649-A-AG c.7541dup p.E2515* Nonsense 34/34 - 2
9-139390649-AG-A c.7541del p.P2514Lfs*75 Frameshift 34/34 - 2
9-139390653-G-A c.7538C>T p.S2513F Missense 34/34 - 4
9-139390653-G-T c.7538C>A p.S2513Y Missense 34/34 - 1
9-139390654-A-C c.7537T>G p.S2513A Missense 34/34 - 1
9-139390654-A-T c.7537T>A p.S2513T Missense 34/34 - 2
9-139390656-G-A c.7535C>T p.P2512L Missense 34/34 - 11
9-139390656-G-C c.7535C>G p.P2512R Missense 34/34 - 1
9-139390657-G-A c.7534C>T p.P2512S Missense 34/34 - 3
9-139390657-G-C c.7534C>G p.P2512A Missense 34/34 - 1
9-139390657-G-T c.7534C>A p.P2512T Missense 34/34 - 1
9-139390655-CGGGGTGA-C c.7529_7535del p.L2510Rfs*77 Frameshift 34/34 - 1
9-139390658-GGT-TTA c.7531_7533delinsTAA p.T2511* Nonsense 34/34 - 1
9-139390655-C-CG c.7535dup p.S2513Vfs*3 Frameshift 34/34 - 3
9-139390655-CG-C c.7535del p.P2512Rfs*77 Frameshift 34/34 - 1
9-139390659-G-A c.7532C>T p.T2511I Missense 34/34 - 3
9-139390659-GT-AC c.7531_7532inv p.T2511V Missense 34/34 - 1
9-139390658-GGT-G c.7531_7532del p.T2511Pfs*4 Frameshift 34/34 - 1
9-139390660-T-C c.7531A>G p.T2511A Missense 34/34 - 2
9-139390660-T-G c.7531A>C p.T2511P Missense 34/34 - 2
9-139390661-G-T c.7530C>A p.L2510= Synonymous 34/34 - 1
9-139390655-CGGGGTGAGGAA-C c.7525_7535del p.F2509Vfs*3 Frameshift 34/34 - 1
9-139390662-A-G c.7529T>C p.L2510P Missense 34/34 - 3
9-139390662-A-T c.7529T>A p.L2510H Missense 34/34 - 1
9-139390663-AGGAAGGGGTGCTCAGGCACCTGTAGC-A c.7503_7528del p.Q2501Hfs*6 Frameshift 34/34 - 1
9-139390663-G-A c.7528C>T p.L2510F Missense 34/34 - 5
9-139390664-G-T c.7527C>A p.F2509L Missense 34/34 - 2
9-139390665-AA-GG c.7525_7526delinsCC p.F2509P Missense 34/34 - 1
9-139390664-G-C c.7527C>G p.F2509L Missense 34/34 - 1
9-139390664-G-GA c.7526dup p.L2510Pfs*6 Frameshift 34/34 - 1
9-139390666-A-C c.7525T>G p.F2509V Missense 34/34 - 1
9-139390666-A-G c.7525T>C p.F2509L Missense 34/34 - 1
9-139390666-A-T c.7525T>A p.F2509I Missense 34/34 - 1
9-139390668-G-A c.7523C>T p.P2508L Missense 34/34 - 1
9-139390666-AGG-A c.7523_7524del p.P2508Lfs*7 Frameshift 34/34 - 1
9-139390666-AG-A c.7524del p.F2509Sfs*80 Frameshift 34/34 - 1
9-139390671-T-A c.7520A>T p.H2507L Missense 34/34 - 1
9-139390671-T-TG c.7519dup p.H2507Pfs*9 Frameshift 34/34 - 1
9-139390672-G-A c.7519C>T p.H2507Y Missense 34/34 - 2
9-139390672-G-T c.7519C>A p.H2507N Missense 34/34 - 1
9-139390673-C-A c.7518G>T p.E2506D Missense 34/34 - 1
9-139390673-C-G c.7518G>C p.E2506D Missense 34/34 - 1
9-139390672-GCT-G c.7517_7518del p.E2506Afs*9 Frameshift 34/34 - 1
9-139390674-T-C c.7517A>G p.E2506G Missense 34/34 - 1
9-139390675-C-A c.7516G>T p.E2506* Nonsense 34/34 - 7
9-139390675-C-T c.7516G>A p.E2506K Missense 34/34 - 4
9-139390676-A-C c.7515T>G p.P2505= Synonymous 34/34 - 3
9-139390677-G-A c.7514C>T p.P2505L Missense 34/34 - 1
9-139390677-G-C c.7514C>G p.P2505R Missense 34/34 - 1
9-139390678-G-T c.7513C>A p.P2505T Missense 34/34 - 1
9-139390680-A-G c.7511T>C p.V2504A Missense 34/34 - 2
9-139390680-A-T c.7511T>A p.V2504E Missense 34/34 - 2
9-139390681-C-A c.7510G>T p.V2504L Missense 34/34 - 1
9-139390681-C-G c.7510G>C p.V2504L Missense 34/34 - 1
9-139390682-C-A c.7509G>T p.Q2503H Missense 34/34 - 1
9-139390682-CCT-C c.7508_7509del p.Q2503Rfs*3 Frameshift 34/34 - 2
9-139390683-T-C c.7508A>G p.Q2503R Missense 34/34 - 1
9-139390683-T-G c.7508A>C p.Q2503P Missense 34/34 - 2
9-139390682-CTG-C c.7507_7508del p.Q2503Gfs*3 Frameshift 34/34 - 1
9-139390684-G-A c.7507C>T p.Q2503* Nonsense 34/34 - 13
9-139390686-A-T c.7505T>A p.L2502Q Missense 34/34 - 1
9-139390687-G-C c.7504C>G p.L2502V Missense 34/34 - 1
9-139390688-C-CCTAGTAAAT c.7502_7503insATTTACTAG p.Q2501_L2502insFTR InFrameInsertion 34/34 - 1
9-139390690-G-A c.7501C>T p.Q2501* Nonsense 34/34 - 12
9-139390690-G-T c.7501C>A p.Q2501K Missense 34/34 - 1
9-139390691-G-C c.7500C>G p.H2500Q Missense 34/34 - 1
9-139390691-G-T c.7500C>A p.H2500Q Missense 34/34 - 1
9-139390694-G-GGGA c.7496_7497insTCC p.S2499_H2500insP InFrameInsertion 34/34 - 1
9-139390695-CTGGGGGTG-TTATGTGCGCTTACC c.7488_7496delinsGGTAAGCGCACATAA p.N2496_S2499delinsKVSAHN MultiAAMissense 34/34 - 1
9-139390695-GC-G c.7496del p.S2499Tfs*90 Frameshift 34/34 - 1
9-139390696-T-G c.7495A>C p.S2499R Missense 34/34 - 1
9-139390698-G-A c.7493C>T p.P2498L Missense 34/34 - 2
9-139390698-G-T c.7493C>A p.P2498H Missense 34/34 - 2
9-139390699-G-T c.7492C>A p.P2498T Missense 34/34 - 1
9-139390696-TG-T c.7494del p.S2499Afs*90 Frameshift 34/34 - 3
9-139390701-G-A c.7490C>T p.T2497I Missense 34/34 - 2
9-139390702-T-C c.7489A>G p.T2497A Missense 34/34 - 1
9-139390702-T-G c.7489A>C p.T2497P Missense 34/34 - 1
9-139390701-GTGT-G c.7487_7489del p.N2496del InFrameDeletion 34/34 - 1
9-139390707-T-C c.7484A>G p.D2495G Missense 34/34 - 1
9-139390708-C-A c.7483G>T p.D2495Y Missense 34/34 - 1
9-139390709-C-T c.7482G>A p.V2494= Synonymous 34/34 - 1
9-139390708-CCA-C c.7481_7482del p.V2494Gfs*12 Frameshift 34/34 - 1
9-139390711-C-T c.7480G>A p.V2494M Missense 34/34 - 1
9-139390713-G-C c.7478C>G p.P2493R Missense 34/34 - 1
9-139390714-G-GGGA c.7476_7477insTCC p.S2492dup InFrameInsertion 34/34 - 1
9-139390715-CG-AA c.7475_7476delinsTT p.S2492F Missense 34/34 - 1
9-139390716-G-T c.7475C>A p.S2492* Nonsense 34/34 - 12
9-139390718-G-A c.7473C>T p.S2491= Synonymous 34/34 - 3
9-139390718-G-C c.7473C>G p.S2491= Synonymous 34/34 - 1
9-139390718-G-T c.7473C>A p.S2491= Synonymous 34/34 - 1
9-139390719-G-A c.7472C>T p.S2491F Missense 34/34 - 2
9-139390719-G-T c.7472C>A p.S2491Y Missense 34/34 - 2
9-139390721-G-C c.7470C>G p.Y2490* Nonsense 34/34 - 4
9-139390721-G-T c.7470C>A p.Y2490* Nonsense 34/34 - 6
9-139390722-T-A c.7469A>T p.Y2490F Missense 34/34 - 1
9-139390722-T-TCGTGAGCCTCCTGGAGATACTGAACACCTTTTAAAGTGTGGCCAGGCCC c.7468_7469insGGGCCTGGCCACACTTTAAAAGGTGTTCAGTATCTCCAGGAGGCTCACG p.Y2490Wfs*33 Frameshift 34/34 - 1
9-139390723-A-T c.7468T>A p.Y2490N Missense 34/34 - 1
9-139390726-TGTGCTGC-T c.7458_7464del p.Q2487Afs*100 Frameshift 34/34 - 1
9-139390728-T-A c.7463A>T p.H2488L Missense 34/34 - 1
9-139390731-T-A c.7460A>T p.Q2487L Missense 34/34 - 16
9-139390732-G-A c.7459C>T p.Q2487* Nonsense 34/34 - 19
9-139390732-G-T c.7459C>A p.Q2487K Missense 34/34 - 1
9-139390732-TGCG-T c.7457_7459del p.S2486_Q2487delins* MultiAAMissense 34/34 - 1
9-139390731-TGCGA-T c.7456_7459del p.Q2487Tfs*101 Frameshift 34/34 - 1
9-139390731-T-TGCAGGAAG c.7459_7460insCTTCCTGC p.Q2487Pfs*105 Frameshift 34/34 - 1
9-139390733-C-A c.7458G>T p.S2486= Synonymous 34/34 - 2
9-139390733-C-CATGCGGCTAGACGCCT c.7457_7458insAGGCGTCTAGCCGCAT p.Q2487Gfs*3 Frameshift 34/34 - 1
9-139390733-C-G c.7458G>C p.S2486= Synonymous 34/34 - 2
9-139390733-C-T c.7458G>A p.S2486= Synonymous 34/34 - 3
9-139390734-G-A c.7457C>T p.S2486L Missense 34/34 - 7
9-139390734-G-T c.7457C>A p.S2486* Nonsense 34/34 - 3
9-139390735-A-G c.7456T>C p.S2486P Missense 34/34 - 2
9-139390735-GA-G c.7456del p.S2486Rfs*103 Frameshift 34/34 - 4
9-139390738-G-A c.7453C>T p.P2485S Missense 34/34 - 1
9-139390738-G-T c.7453C>A p.P2485T Missense 34/34 - 1
9-139390739-G-A c.7452C>T p.P2484= Synonymous 34/34 - 1
9-139390735-AG-A c.7455del p.S2486Rfs*103 Frameshift 34/34 - 9
9-139390742-C-T c.7449G>A p.T2483= Synonymous 34/34 - 1
9-139390743-G-A c.7448C>T p.T2483M Missense 34/34 - 7
9-139390743-G-T c.7448C>A p.T2483K Missense 34/34 - 2
9-139390744-T-A c.7447A>T p.T2483S Missense 34/34 - 1
9-139390744-T-C c.7447A>G p.T2483A Missense 34/34 - 4
9-139390745-C-T c.7446G>A p.L2482= Synonymous 34/34 - 1
9-139390746-A-G c.7445T>C p.L2482P Missense 34/34 - 1
9-139390746-AG-TA c.7444_7445delinsTA p.L2482* Nonsense 34/34 - 2
9-139390746-AG-A c.7444del p.L2482* Frameshift 34/34 - 6
9-139390748-GA-G c.7442del p.F2481Sfs*2 Frameshift 34/34 - 1
9-139390750-A-G c.7441T>C p.F2481L Missense 34/34 - 1
9-139390753-G-T c.7438C>A p.Q2480K Missense 34/34 - 1
9-139390755-G-A c.7436C>T p.A2479V Missense 34/34 - 1
9-139390755-G-T c.7436C>A p.A2479D Missense 34/34 - 1
9-139390756-C-T c.7435G>A p.A2479T Missense 34/34 - 1
9-139390758-G-A c.7433C>T p.A2478V Missense 34/34 - 1
9-139390759-C-T c.7432G>A p.A2478T Missense 34/34 - 3
9-139390758-GCGGT-G c.7429_7432del p.T2477Qfs*5 Frameshift 34/34 - 1
9-139390760-G-A c.7431C>T p.T2477= Synonymous 34/34 - 1
9-139390757-TGCGGTCACGGGTGGGACCA-T c.7415_7433del p.L2472Qfs*5 Frameshift 34/34 - 1
9-139390759-CG-C c.7431del p.A2478Qfs*5 Frameshift 34/34 - 2
9-139390761-G-A c.7430C>T p.T2477I Missense 34/34 - 1
9-139390764-A-C c.7427T>G p.V2476G Missense 34/34 - 2
9-139390764-AC-TA c.7426_7427delinsTA p.V2476* Nonsense 34/34 - 1
9-139390764-A-G c.7427T>C p.V2476A Missense 34/34 - 2
9-139390765-C-T c.7426G>A p.V2476M Missense 34/34 - 9
9-139390766-GGG-TTA c.7423_7425delinsTAA p.P2475* Nonsense 34/34 - 1
9-139390767-G-C c.7424C>G p.P2475R Missense 34/34 - 1
9-139390765-CG-C c.7425del p.V2476* Frameshift 34/34 - 1
9-139390769-T-A c.7422A>T p.P2474= Synonymous 34/34 - 1
9-139390769-T-C c.7422A>G p.P2474= Synonymous 34/34 - 2
9-139390769-T-G c.7422A>C p.P2474= Synonymous 34/34 - 1
9-139390771-G-T c.7420C>A p.P2474T Missense 34/34 - 2
9-139390769-TG-T c.7421del p.P2474Hfs*3 Frameshift 34/34 - 1
9-139390772-G-A c.7419C>T p.V2473= Synonymous 34/34 - 1
9-139390772-G-GCC c.7418_7419insGG p.P2474Afs*4 Frameshift 34/34 - 2
9-139390773-A-C c.7418T>G p.V2473G Missense 34/34 - 1
9-139390773-A-G c.7418T>C p.V2473A Missense 34/34 - 1
9-139390771-GGACCAGC-G c.7413_7419del p.L2472Hfs*3 Frameshift 34/34 - 1
9-139390777-G-T c.7414C>A p.L2472M Missense 34/34 - 1
9-139390779-G-A c.7412C>T p.S2471L Missense 34/34 - 4
9-139390779-G-T c.7412C>A p.S2471* Nonsense 34/34 - 11
9-139390780-GA-G c.7411del p.S2471Rfs*6 Frameshift 34/34 - 1
9-139390781-G-A c.7410C>T p.S2470= Synonymous 34/34 - 3
9-139390781-G-C c.7410C>G p.S2470= Synonymous 34/34 - 1
9-139390781-G-T c.7410C>A p.S2470= Synonymous 34/34 - 1
9-139390780-AG-A c.7410del p.S2471Rfs*6 Frameshift 34/34 - 1
9-139390782-G-A c.7409C>T p.S2470F Missense 34/34 - 1
9-139390783-GA-G c.7408del p.S2470Pfs*7 Frameshift 34/34 - 1
9-139390784-T-C c.7407A>G p.P2469= Synonymous 34/34 - 1
9-139390785-G-A c.7406C>T p.P2469L Missense 34/34 - 1
9-139390786-G-A c.7405C>T p.P2469S Missense 34/34 - 8
9-139390787-C-A c.7404G>T p.L2468= Synonymous 34/34 - 1
9-139390787-C-G c.7404G>C p.L2468= Synonymous 34/34 - 1
9-139390787-C-T c.7404G>A p.L2468= Synonymous 34/34 - 1
9-139390789-G-A c.7402C>T p.L2468= Synonymous 34/34 - 1
9-139390788-A-ACC c.7402_7403insGG p.L2468Rfs*10 Frameshift 34/34 - 1
9-139390788-A-C c.7403T>G p.L2468R Missense 34/34 - 1
9-139390788-A-G c.7403T>C p.L2468P Missense 34/34 - 1
9-139390788-A-T c.7403T>A p.L2468Q Missense 34/34 - 1
9-139390790-C-CTT c.7400_7401insAA p.L2468Sfs*10 Frameshift 34/34 - 1
9-139390790-CG-AA c.7400_7401delinsTT p.S2467F Missense 34/34 - 1
9-139390790-CGA-GTT c.7399_7401delinsAAC p.S2467N Missense 34/34 - 1
9-139390790-CG-AT c.7400_7401delinsAT p.S2467Y Missense 34/34 - 1
9-139390790-GC-G c.7401del p.L2468Cfs*9 Frameshift 34/34 - 3
9-139390791-CG-C c.7400del p.S2467Cfs*10 Frameshift 34/34 - 2
9-139390791-G-A c.7400C>T p.S2467L Missense 34/34 - 6
9-139390791-G-C c.7400C>G p.S2467W Missense 34/34 - 5
9-139390791-G-T c.7400C>A p.S2467* Nonsense 34/34 - 16
9-139390792-A-C c.7399T>G p.S2467A Missense 34/34 - 2
9-139390792-GA-G c.7399del p.S2467Rfs*10 Frameshift 34/34 - 1
9-139390793-C-T c.7398G>A p.T2466= Synonymous 34/34 - 1
9-139390793-C-CG c.7397dup p.S2467Vfs*40 Frameshift 34/34 - 1
9-139390794-CG-C c.7397del p.T2466Sfs*11 Frameshift 34/34 - 4
9-139390794-CGTGGGCAGGG-C c.7388_7397del p.A2463Gfs*11 Frameshift 34/34 - 3
9-139390794-G-A c.7397C>T p.T2466M Missense 34/34 - 12
9-139390794-G-C c.7397C>G p.T2466R Missense 34/34 - 1
9-139390795-T-A c.7396A>T p.T2466S Missense 34/34 - 1
9-139390795-T-C c.7396A>G p.T2466A Missense 34/34 - 2
9-139390795-T-G c.7396A>C p.T2466P Missense 34/34 - 1
9-139390796-G-A c.7395C>T p.P2465= Synonymous 34/34 - 1
9-139390796-G-C c.7395C>G p.P2465= Synonymous 34/34 - 1
9-139390796-G-T c.7395C>A p.P2465= Synonymous 34/34 - 1
9-139390797-G-GCCCTACTA c.7393_7394insTAGTAGGG p.P2465Lfs*15 Frameshift 34/34 - 1
9-139390795-TG-T c.7395del p.T2466Rfs*11 Frameshift 34/34 - 2
9-139390798-G-A c.7393C>T p.P2465S Missense 34/34 - 1
9-139390798-G-GGC c.7392_7393insGC p.P2465Afs*13 Frameshift 34/34 - 1
9-139390799-C-A c.7392G>T p.L2464= Synonymous 34/34 - 1
9-139390799-C-G c.7392G>C p.L2464= Synonymous 34/34 - 1
9-139390799-C-T c.7392G>A p.L2464= Synonymous 34/34 - 1
9-139390801-G-A c.7390C>T p.L2464= Synonymous 34/34 - 1
9-139390800-A-C c.7391T>G p.L2464R Missense 34/34 - 1
9-139390800-A-T c.7391T>A p.L2464Q Missense 34/34 - 2
9-139390800-AG-A c.7390del p.L2464Cfs*13 Frameshift 34/34 - 2
9-139390804-C-G c.7387G>C p.A2463P Missense 34/34 - 1
9-139390804-C-T c.7387G>A p.A2463T Missense 34/34 - 9
9-139390804-GC-G c.7387del p.A2463Pfs*14 Frameshift 34/34 - 3
9-139390805-G-A c.7386C>T p.P2462= Synonymous 34/34 - 2
9-139390805-G-C c.7386C>G p.P2462= Synonymous 34/34 - 1
9-139390805-G-T c.7386C>A p.P2462= Synonymous 34/34 - 1
9-139390806-G-A c.7385C>T p.P2462L Missense 34/34 - 1
9-139390807-G-A c.7384C>T p.P2462S Missense 34/34 - 3
9-139390807-G-T c.7384C>A p.P2462T Missense 34/34 - 1
9-139390804-CG-C c.7386del p.A2463Pfs*14 Frameshift 34/34 - 7
9-139390808-G-C c.7383C>G p.S2461R Missense 34/34 - 1
9-139390808-GGC-G c.7382_7383del p.S2461Tfs*45 Frameshift 34/34 - 1
9-139390808-G-T c.7383C>A p.S2461R Missense 34/34 - 1
9-139390809-C-A c.7382G>T p.S2461I Missense 34/34 - 1
9-139390809-CT-AA c.7381_7382delinsTT p.S2461F Missense 34/34 - 1
9-139390810-CT-C c.7381del p.S2461Afs*16 Frameshift 34/34 - 1
9-139390810-T-C c.7381A>G p.S2461G Missense 34/34 - 1
9-139390810-T-G c.7381A>C p.S2461R Missense 34/34 - 2
9-139390811-C-A c.7380G>T p.E2460D Missense 34/34 - 1
9-139390811-C-G c.7380G>C p.E2460D Missense 34/34 - 1
9-139390812-T-A c.7379A>T p.E2460V Missense 34/34 - 1
9-139390812-T-G c.7379A>C p.E2460A Missense 34/34 - 1
9-139390813-C-A c.7378G>T p.E2460* Nonsense 34/34 - 7
9-139390812-TC-T c.7378del p.E2460Rfs*17 Frameshift 34/34 - 1
9-139390814-CCTGGGGCAGA-C c.7368_7377del p.I2456Mfs*18 Frameshift 34/34 - 1
9-139390815-T-A c.7376A>T p.Q2459L Missense 34/34 - 1
9-139390815-T-G c.7376A>C p.Q2459P Missense 34/34 - 1
9-139390816-G-A c.7375C>T p.Q2459* Nonsense 34/34 - 26
9-139390816-G-T c.7375C>A p.Q2459K Missense 34/34 - 2
9-139390817-G-A c.7374C>T p.P2458= Synonymous 34/34 - 1
9-139390817-GGGCAG-TTACCTTGC c.7369_7374delinsGCAAGGTAA p.L2457_P2458delinsAR* MultiAAMissense 34/34 - 1
9-139390818-G-C c.7373C>G p.P2458R Missense 34/34 - 1
9-139390818-G-T c.7373C>A p.P2458H Missense 34/34 - 1
9-139390815-TG-T c.7375del p.Q2459Rfs*18 Frameshift 34/34 - 1
9-139390819-G-T c.7372C>A p.P2458T Missense 34/34 - 3
9-139390821-A-G c.7370T>C p.L2457P Missense 34/34 - 1
9-139390822-G-C c.7369C>G p.L2457V Missense 34/34 - 22
9-139390822-G-GGGCCTTATCGCGC c.7368_7369insGCGCGATAAGGCC p.L2457Afs*3 Frameshift 34/34 - 1
9-139390822-G-GTA c.7368_7369insTA p.L2457Yfs*21 Frameshift 34/34 - 1
9-139390822-G-T c.7369C>A p.L2457M Missense 34/34 - 2
9-139390822-GAAT-G c.7366_7368del p.I2456del InFrameDeletion 34/34 - 1
9-139390824-A-C c.7367T>G p.I2456S Missense 34/34 - 1
9-139390825-ATAGTGTG-A c.7360_7366del p.H2454Ffs*21 Frameshift 34/34 - 1
9-139390825-T-C c.7366A>G p.I2456V Missense 34/34 - 5
9-139390828-T-C c.7363A>G p.T2455A Missense 34/34 - 3
9-139390828-T-G c.7363A>C p.T2455P Missense 34/34 - 1
9-139390829-G-A c.7362C>T p.H2454= Synonymous 34/34 - 1
9-139390826-AGT-A c.7363_7364del p.T2455Yfs*51 Frameshift 34/34 - 1
9-139390830-T-G c.7361A>C p.H2454P Missense 34/34 - 1
9-139390832-C-A c.7359G>T p.V2453= Synonymous 34/34 - 4
9-139390832-C-G c.7359G>C p.V2453= Synonymous 34/34 - 4
9-139390832-C-T c.7359G>A p.V2453= Synonymous 34/34 - 5
9-139390833-CA-C c.7358del p.V2453Gfs*24 Frameshift 34/34 - 1
9-139390833-A-ACG c.7357_7358insCG p.V2453Afs*25 Frameshift 34/34 - 1
9-139390834-C-T c.7357G>A p.V2453M Missense 34/34 - 2
9-139390834-CCGCCAGGCTG-C c.7347_7356del p.S2449Rfs*25 Frameshift 34/34 - 1
9-139390836-G-A c.7355C>T p.A2452V Missense 34/34 - 4
9-139390836-G-C c.7355C>G p.A2452G Missense 34/34 - 1
9-139390836-G-T c.7355C>A p.A2452E Missense 34/34 - 1
9-139390837-C-T c.7354G>A p.A2452T Missense 34/34 - 4
9-139390839-A-G c.7352T>C p.L2451P Missense 34/34 - 2
9-139390840-G-A c.7351C>T p.L2451= Synonymous 34/34 - 1
9-139390841-GCT-TCA c.7348_7350delinsTGA p.S2450* Nonsense 34/34 - 1
9-139390843-T-G c.7348A>C p.S2450R Missense 34/34 - 1
9-139390846-T-G c.7345A>C p.S2449R Missense 34/34 - 1
9-139390847-G-A c.7344C>T p.P2448= Synonymous 34/34 - 1
9-139390848-G-A c.7343C>T p.P2448L Missense 34/34 - 1
9-139390849-G-A c.7342C>T p.P2448S Missense 34/34 - 3
9-139390849-G-GCC c.7341_7342insGG p.P2448Gfs*30 Frameshift 34/34 - 1
9-139390849-G-T c.7342C>A p.P2448T Missense 34/34 - 1
9-139390846-TG-T c.7344del p.S2449Afs*28 Frameshift 34/34 - 1
9-139390852-C-A c.7339G>T p.G2447C Missense 34/34 - 1
9-139390854-A-G c.7337T>C p.L2446P Missense 34/34 - 1
9-139390854-AGTGGCTGCAC-A c.7327_7336del p.V2443Wfs*31 Frameshift 34/34 - 2
9-139390857-G-A c.7334C>T p.P2445L Missense 34/34 - 1
9-139390856-TGGCTGCACGTCTGCCTGGCTCG-T c.7313_7334del p.P2438Hfs*32 Frameshift 34/34 - 1
9-139390858-G-A c.7333C>T p.P2445S Missense 34/34 - 1
9-139390858-G-GATTATTACGATTA c.7332_7333insTAATCGTAATAAT p.P2445* Nonsense 34/34 - 2
9-139390859-C-T c.7332G>A p.Q2444= Synonymous 34/34 - 1
9-139390859-CTGCAC-GACTAA c.7327_7332delinsTTAGTC p.V2443_Q2444delinsLV MultiAAMissense 34/34 - 1
9-139390860-T-C c.7331A>G p.Q2444R Missense 34/34 - 1
9-139390861-G-A c.7330C>T p.Q2444* Nonsense 34/34 - 19
9-139390862-C-CAG c.7328_7329insCT p.Q2444Cfs*34 Frameshift 34/34 - 1
9-139390863-A-ATCAGT c.7327_7328insACTGA p.V2443Dfs*2 Frameshift 34/34 - 1
9-139390863-A-C c.7328T>G p.V2443G Missense 34/34 - 2
9-139390863-A-T c.7328T>A p.V2443E Missense 34/34 - 2
9-139390864-C-A c.7327G>T p.V2443L Missense 34/34 - 5
9-139390864-C-CTA c.7326_7327insTA p.V2443* Nonsense 34/34 - 1
9-139390864-C-G c.7327G>C p.V2443L Missense 34/34 - 5
9-139390864-C-T c.7327G>A p.V2443M Missense 34/34 - 1
9-139390864-C-CGGACTTCTATCT c.7326_7327insAGATAGAAGTCC p.D2442_V2443insR* Frameshift 34/34 - 2
9-139390865-G-A c.7326C>T p.D2442= Synonymous 34/34 - 2
9-139390866-T-G c.7325A>C p.D2442A Missense 34/34 - 2
9-139390866-T-TGA c.7324_7325insTC p.D2442Vfs*36 Frameshift 34/34 - 1
9-139390868-T-C c.7323A>G p.A2441= Synonymous 34/34 - 1
9-139390868-T-TCCTGGCTC c.7322_7323insGAGCCAGG p.D2442Sfs*38 Frameshift 34/34 - 1
9-139390869-G-A c.7322C>T p.A2441V Missense 34/34 - 2
9-139390869-G-C c.7322C>G p.A2441G Missense 34/34 - 5
9-139390869-G-T c.7322C>A p.A2441E Missense 34/34 - 1
9-139390866-TCTGC-T c.7321_7324del p.A2441Tfs*35 Frameshift 34/34 - 3
9-139390870-C-T c.7321G>A p.A2441T Missense 34/34 - 16
9-139390869-G-GCCCTGGCT c.7321_7322insAGCCAGGG p.A2441Efs*39 Frameshift 34/34 - 1
9-139390872-T-C c.7319A>G p.Q2440R Missense 34/34 - 1
9-139390870-CCTGG-C c.7317_7320del p.S2439Rfs*37 Frameshift 34/34 - 1
9-139390873-G-A c.7318C>T p.Q2440* Nonsense 34/34 - 13
9-139390876-T-G c.7315A>C p.S2439R Missense 34/34 - 1
9-139390875-C-A c.7316G>T p.S2439I Missense 34/34 - 1
9-139390877-C-A c.7314G>T p.P2438= Synonymous 34/34 - 1
9-139390877-C-G c.7314G>C p.P2438= Synonymous 34/34 - 1
9-139390877-C-T c.7314G>A p.P2438= Synonymous 34/34 - 1
9-139390878-G-A c.7313C>T p.P2438L Missense 34/34 - 7
9-139390878-G-C c.7313C>G p.P2438R Missense 34/34 - 1
9-139390878-G-GCCT c.7312_7313insAGG p.P2438delinsQA MultiAAMissense 34/34 - 1
9-139390879-G-A c.7312C>T p.P2438S Missense 34/34 - 2
9-139390881-CT-C c.7310del p.E2437Gfs*40 Frameshift 34/34 - 1
9-139390884-C-G c.7307G>C p.G2436A Missense 34/34 - 1
9-139390884-C-T c.7307G>A p.G2436E Missense 34/34 - 2
9-139390885-C-A c.7306G>T p.G2436* Nonsense 34/34 - 1
9-139390885-C-G c.7306G>C p.G2436R Missense 34/34 - 1
9-139390885-C-T c.7306G>A p.G2436R Missense 34/34 - 2
9-139390883-TCCACTCAGGAAGCTCCGGC-T c.7289_7307del p.G2430Efs*41 Frameshift 34/34 - 1
9-139390888-CT-C c.7303del p.S2435Vfs*42 Frameshift 34/34 - 1
9-139390888-T-C c.7303A>G p.S2435G Missense 34/34 - 1
9-139390889-C-A c.7302G>T p.L2434= Synonymous 34/34 - 1
9-139390889-C-G c.7302G>C p.L2434= Synonymous 34/34 - 1
9-139390889-C-T c.7302G>A p.L2434= Synonymous 34/34 - 1
9-139390891-G-A c.7300C>T p.L2434= Synonymous 34/34 - 1
9-139390890-A-G c.7301T>C p.L2434P Missense 34/34 - 1
9-139390890-AG-TA c.7300_7301delinsTA p.L2434* Nonsense 34/34 - 1
9-139390890-AG-A c.7300del p.L2434* Frameshift 34/34 - 2
9-139390892-GA-TT c.7298_7299delinsAA p.F2433* Nonsense 34/34 - 1
9-139390891-GGAA-G c.7297_7299del p.F2433del InFrameDeletion 34/34 - 1
9-139390893-A-G c.7298T>C p.F2433S Missense 34/34 - 1
9-139390892-G-C c.7299C>G p.F2433L Missense 34/34 - 1
9-139390892-G-T c.7299C>A p.F2433L Missense 34/34 - 1
9-139390894-A-G c.7297T>C p.F2433L Missense 34/34 - 1
9-139390897-CT-C c.7294del p.S2432Afs*3 Frameshift 34/34 - 2
9-139390898-CCG-ACA c.7291_7293delinsTGT p.R2431C Missense 34/34 - 1
9-139390897-TC-T c.7293del p.S2432Afs*3 Frameshift 34/34 - 1
9-139390899-C-A c.7292G>T p.R2431L Missense 34/34 - 2
9-139390899-C-CAA c.7291_7292insTT p.R2431Lfs*5 Frameshift 34/34 - 1
9-139390899-C-T c.7292G>A p.R2431Q Missense 34/34 - 1
9-139390900-G-A c.7291C>T p.R2431W Missense 34/34 - 5
9-139390899-CG-C c.7291del p.R2431Gfs*4 Frameshift 34/34 - 1
9-139390902-CC-TT c.7288_7289delinsAA p.G2430N Missense 34/34 - 1
9-139390902-C-G c.7289G>C p.G2430A Missense 34/34 - 9
9-139390903-C-T c.7288G>A p.G2430S Missense 34/34 - 1
9-139390901-GC-G c.7289del p.G2430Afs*5 Frameshift 34/34 - 2
9-139390905-A-C c.7286T>G p.L2429R Missense 34/34 - 1
9-139390905-AGGT-CTG c.7283_7286delinsCAG p.H2428Pfs*7 Frameshift 34/34 - 1
9-139390906-G-C c.7285C>G p.L2429V Missense 34/34 - 3
9-139390906-G-T c.7285C>A p.L2429M Missense 34/34 - 2
9-139390907-G-C c.7284C>G p.H2428Q Missense 34/34 - 3
9-139390907-G-T c.7284C>A p.H2428Q Missense 34/34 - 3
9-139390908-GT-G c.7283del p.H2428Pfs*7 Frameshift 34/34 - 2
9-139390911-C-T c.7280G>A p.G2427D Missense 34/34 - 4
9-139390907-GTGGCCGC-G c.7277_7283del p.S2426Tfs*7 Frameshift 34/34 - 1
9-139390910-GC-G c.7280del p.G2427Afs*8 Frameshift 34/34 - 1
9-139390912-C-T c.7279G>A p.G2427S Missense 34/34 - 3
9-139390915-T-C c.7276A>G p.S2426G Missense 34/34 - 1
9-139390908-T-TGGCCGCTGTGA c.7282_7283insTCACAGCGGCC p.H2428Lfs*11 Frameshift 34/34 - 1
9-139390917-G-T c.7274C>A p.A2425D Missense 34/34 - 2
9-139390918-C-T c.7273G>A p.A2425T Missense 34/34 - 3
9-139390921-C-T c.7270G>A p.A2424T Missense 34/34 - 1
9-139390923-G-A c.7268C>T p.S2423L Missense 34/34 - 4
9-139390923-G-C c.7268C>G p.S2423* Nonsense 34/34 - 2
9-139390923-G-T c.7268C>A p.S2423* Nonsense 34/34 - 2
9-139390924-A-G c.7267T>C p.S2423P Missense 34/34 - 1
9-139390926-C-T c.7265G>A p.S2422N Missense 34/34 - 1
9-139390927-T-C c.7264A>G p.S2422G Missense 34/34 - 1
9-139390927-T-TA c.7263_7264insT p.S2422* Nonsense 34/34 - 1
9-139390927-T-TGGTCC c.7263_7264insGGACC p.S2422Gfs*15 Frameshift 34/34 - 1
9-139390928-TC-T c.7263del p.S2422Afs*13 Frameshift 34/34 - 1
9-139390929-AC-TA c.7261_7262delinsTA p.V2421* Nonsense 34/34 - 1
9-139390929-A-G c.7262T>C p.V2421A Missense 34/34 - 2
9-139390929-A-T c.7262T>A p.V2421E Missense 34/34 - 1
9-139390930-AC-A c.7261del p.V2421* Frameshift 34/34 - 1
9-139390930-C-T c.7261G>A p.V2421M Missense 34/34 - 7
9-139390929-A-ACGAGAC c.7261_7262insGTCTCG p.G2420_V2421insGL InFrameInsertion 34/34 - 1
9-139390930-C-CG c.7260dup p.V2421Rfs*86 Frameshift 34/34 - 1
9-139390931-G-A c.7260C>T p.G2420= Synonymous 34/34 - 1
9-139390933-C-A c.7258G>T p.G2420C Missense 34/34 - 4
9-139390933-C-T c.7258G>A p.G2420S Missense 34/34 - 1
9-139390935-A-T c.7256T>A p.L2419H Missense 34/34 - 1
9-139390936-G-T c.7255C>A p.L2419I Missense 34/34 - 1
9-139390939-G-T c.7252C>A p.H2418N Missense 34/34 - 1
9-139390940-C-A c.7251G>T p.P2417= Synonymous 34/34 - 2
9-139390940-C-G c.7251G>C p.P2417= Synonymous 34/34 - 2
9-139390940-C-T c.7251G>A p.P2417= Synonymous 34/34 - 2
9-139390941-G-A c.7250C>T p.P2417L Missense 34/34 - 4
9-139390941-G-C c.7250C>G p.P2417R Missense 34/34 - 1
9-139390940-CGGCTGTG-C c.7244_7250del p.P2415Rfs*5 Frameshift 34/34 - 1
9-139390942-G-A c.7249C>T p.P2417S Missense 34/34 - 1
9-139390942-G-C c.7249C>G p.P2417A Missense 34/34 - 8
9-139390943-C-G c.7248G>C p.Q2416H Missense 34/34 - 1
9-139390943-C-T c.7248G>A p.Q2416= Synonymous 34/34 - 2
9-139390943-GC-G c.7248del p.Q2416Hfs*6 Frameshift 34/34 - 2
9-139390944-CTGT-C c.7245_7247del p.Q2416del InFrameDeletion 34/34 - 1
9-139390944-T-G c.7247A>C p.Q2416P Missense 34/34 - 1
9-139390945-G-A c.7246C>T p.Q2416* Nonsense 34/34 - 11
9-139390946-T-G c.7245A>C p.P2415= Synonymous 34/34 - 1
9-139390947-GG-AT c.7243_7244delinsAT p.P2415I Missense 34/34 - 1
9-139390947-G-T c.7244C>A p.P2415Q Missense 34/34 - 1
9-139390949-T-A c.7242A>T p.P2414= Synonymous 34/34 - 1
9-139390949-T-C c.7242A>G p.P2414= Synonymous 34/34 - 3
9-139390949-T-G c.7242A>C p.P2414= Synonymous 34/34 - 1
9-139390950-G-A c.7241C>T p.P2414L Missense 34/34 - 1
9-139390948-GTGGTGGTGGTGGCGGCTGCAGGCTT-G c.7218_7242del p.Q2406Hfs*8 Frameshift 34/34 - 1
9-139390951-G-C c.7240C>G p.P2414A Missense 34/34 - 1
9-139390952-TG-T c.7238del p.P2413Hfs*9 Frameshift 34/34 - 1
9-139390954-G-A c.7237C>T p.P2413S Missense 34/34 - 1
9-139390954-G-C c.7237C>G p.P2413A Missense 34/34 - 1
9-139390955-T-TTGCTC c.7235_7236insGAGCA p.P2413Sfs*11 Frameshift 34/34 - 1
9-139390956-G-A c.7235C>T p.P2412L Missense 34/34 - 1
9-139390957-G-A c.7234C>T p.P2412S Missense 34/34 - 1
9-139390957-G-T c.7234C>A p.P2412T Missense 34/34 - 4
9-139390944-TGTG-T c.7244_7246del p.P2415del InFrameDeletion 34/34 - 20
9-139390958-T-A c.7233A>T p.P2411= Synonymous 34/34 - 2
9-139390958-T-C c.7233A>G p.P2411= Synonymous 34/34 - 9
9-139390958-T-G c.7233A>C p.P2411= Synonymous 34/34 - 7
9-139390959-G-A c.7232C>T p.P2411L Missense 34/34 - 3
9-139390960-G-GCCCCC c.7230_7231insGGGGG p.P2411Gfs*13 Frameshift 34/34 - 1
9-139390961-C-A c.7230G>T p.P2410= Synonymous 34/34 - 3
9-139390961-C-G c.7230G>C p.P2410= Synonymous 34/34 - 3
9-139390961-C-T c.7230G>A p.P2410= Synonymous 34/34 - 4
9-139390962-G-A c.7229C>T p.P2410L Missense 34/34 - 5
9-139390963-G-A c.7228C>T p.P2410S Missense 34/34 - 2
9-139390965-T-C c.7226A>G p.Q2409R Missense 34/34 - 3
9-139390966-G-A c.7225C>T p.Q2409* Nonsense 34/34 - 10
9-139390967-CA-AT c.7223_7224delinsAT p.L2408H Missense 34/34 - 1
9-139390968-A-G c.7223T>C p.L2408P Missense 34/34 - 1
9-139390969-G-T c.7222C>A p.L2408M Missense 34/34 - 2
9-139390968-AG-A c.7222del p.L2408Cfs*14 Frameshift 34/34 - 2
9-139390971-C-T c.7220G>A p.S2407N Missense 34/34 - 2
9-139390972-T-C c.7219A>G p.S2407G Missense 34/34 - 1
9-139390971-CT-C c.7219del p.S2407Afs*15 Frameshift 34/34 - 1
9-139390975-G-A c.7216C>T p.Q2406* Nonsense 34/34 - 10
9-139390977-CT-C c.7214del p.Q2405Rfs*17 Frameshift 34/34 - 3
9-139390978-G-A c.7213C>T p.Q2405* Nonsense 34/34 - 4
9-139390979-C-T c.7212G>A p.Q2404= Synonymous 34/34 - 5
9-139390980-T-G c.7211A>C p.Q2404P Missense 34/34 - 1
9-139390981-G-A c.7210C>T p.Q2404* Nonsense 34/34 - 11
9-139390982-C-G c.7209G>C p.Q2403H Missense 34/34 - 1
9-139390982-C-T c.7209G>A p.Q2403= Synonymous 34/34 - 1
9-139390982-GC-G c.7209del p.Q2403Hfs*19 Frameshift 34/34 - 2
9-139390984-G-A c.7207C>T p.Q2403* Nonsense 34/34 - 8
9-139390983-TG-T c.7207del p.Q2403Sfs*19 Frameshift 34/34 - 1
9-139390986-A-C c.7205T>G p.I2402S Missense 34/34 - 2
9-139390986-A-G c.7205T>C p.I2402T Missense 34/34 - 1
9-139390986-A-T c.7205T>A p.I2402N Missense 34/34 - 1
9-139390988-G-A c.7203C>T p.N2401= Synonymous 34/34 - 2
9-139390989-T-A c.7202A>T p.N2401I Missense 34/34 - 2
9-139390989-T-C c.7202A>G p.N2401S Missense 34/34 - 1
9-139390990-T-C c.7201A>G p.N2401D Missense 34/34 - 1
9-139390990-T-TGC c.7200_7201insGC p.N2401Afs*22 Frameshift 34/34 - 1
9-139390992-G-A c.7199C>T p.A2400V Missense 34/34 - 1
9-139390992-G-T c.7199C>A p.A2400E Missense 34/34 - 1
9-139390993-GC-G c.7198del p.A2400Qfs*22 Frameshift 34/34 - 1
9-139390996-G-A c.7195C>T p.P2399S Missense 34/34 - 4
9-139390997-C-T c.7194G>A p.Q2398= Synonymous 34/34 - 1
9-139390999-G-A c.7192C>T p.Q2398* Nonsense 34/34 - 7
9-139390999-G-C c.7192C>G p.Q2398E Missense 34/34 - 1
9-139390999-TG-T c.7192del p.Q2398Sfs*24 Frameshift 34/34 - 1
9-139391000-C-A c.7191G>T p.L2397= Synonymous 34/34 - 1
9-139391000-C-G c.7191G>C p.L2397= Synonymous 34/34 - 1
9-139391000-C-T c.7191G>A p.L2397= Synonymous 34/34 - 1
9-139391002-G-A c.7189C>T p.L2397= Synonymous 34/34 - 1
9-139391001-A-G c.7190T>C p.L2397P Missense 34/34 - 1
9-139391003-G-C c.7188C>G p.N2396K Missense 34/34 - 1
9-139391003-G-T c.7188C>A p.N2396K Missense 34/34 - 1
9-139391004-T-C c.7187A>G p.N2396S Missense 34/34 - 1
9-139391005-T-C c.7186A>G p.N2396D Missense 34/34 - 1
9-139391006-C-A c.7185G>T p.Q2395H Missense 34/34 - 1
9-139391006-C-G c.7185G>C p.Q2395H Missense 34/34 - 1
9-139391008-G-A c.7183C>T p.Q2395* Nonsense 34/34 - 3
9-139391008-G-T c.7183C>A p.Q2395K Missense 34/34 - 1
9-139391011-G-A c.7180C>T p.Q2394* Nonsense 34/34 - 7
9-139391011-G-T c.7180C>A p.Q2394K Missense 34/34 - 2
9-139391011-TG-T c.7180del p.Q2394Sfs*28 Frameshift 34/34 - 1
9-139391012-C-A c.7179G>T p.Q2393H Missense 34/34 - 1
9-139391012-C-G c.7179G>C p.Q2393H Missense 34/34 - 1
9-139391012-C-T c.7179G>A p.Q2393= Synonymous 34/34 - 1
9-139391005-TCTG-T c.7183_7185del p.Q2395del InFrameDeletion 34/34 - 1
9-139391013-T-C c.7178A>G p.Q2393R Missense 34/34 - 3
9-139391014-G-A c.7177C>T p.Q2393* Nonsense 34/34 - 5
9-139391016-A-T c.7175T>A p.M2392K Missense 34/34 - 1
9-139391019-T-TAAG c.7171_7172insCTT p.Q2391delinsP* Frameshift 34/34 - 1
9-139391020-G-A c.7171C>T p.Q2391* Nonsense 34/34 - 8
9-139391020-G-C c.7171C>G p.Q2391E Missense 34/34 - 2
9-139391022-A-C c.7169T>G p.L2390* Nonsense 34/34 - 1
9-139391022-A-T c.7169T>A p.L2390* Nonsense 34/34 - 1
9-139391023-A-T c.7168T>A p.L2390I Missense 34/34 - 1
9-139391024-G-A c.7167C>T p.N2389= Synonymous 34/34 - 1
9-139391024-GT-G c.7166del p.N2389Tfs*33 Frameshift 34/34 - 2
9-139391028-T-C c.7163A>G p.Q2388R Missense 34/34 - 1
9-139391029-G-A c.7162C>T p.Q2388* Nonsense 34/34 - 2
9-139391029-G-T c.7162C>A p.Q2388K Missense 34/34 - 1
9-139391030-TG-AT c.7160_7161delinsAT p.P2387H Missense 34/34 - 1
9-139391032-G-A c.7159C>T p.P2387S Missense 34/34 - 1
9-139391032-G-C c.7159C>G p.P2387A Missense 34/34 - 2
9-139391033-C-A c.7158G>T p.Q2386H Missense 34/34 - 1
9-139391033-C-G c.7158G>C p.Q2386H Missense 34/34 - 1
9-139391033-C-T c.7158G>A p.Q2386= Synonymous 34/34 - 1
9-139391034-T-C c.7157A>G p.Q2386R Missense 34/34 - 3
9-139391035-G-A c.7156C>T p.Q2386* Nonsense 34/34 - 1
9-139391037-A-T c.7154T>A p.V2385E Missense 34/34 - 1
9-139391038-C-T c.7153G>A p.V2385M Missense 34/34 - 2
9-139391039-C-A c.7152G>T p.Q2384H Missense 34/34 - 1
9-139391041-G-C c.7150C>G p.Q2384E Missense 34/34 - 1
9-139391043-T-C c.7148A>G p.Q2383R Missense 34/34 - 4
9-139391044-G-A c.7147C>T p.Q2383* Nonsense 34/34 - 1
9-139391045-G-A c.7146C>T p.T2382= Synonymous 34/34 - 1
9-139391043-TG-T c.7147del p.Q2383Sfs*39 Frameshift 34/34 - 1
9-139391047-T-C c.7144A>G p.T2382A Missense 34/34 - 1
9-139391050-G-A c.7141C>T p.Q2381* Nonsense 34/34 - 1
9-139391050-G-C c.7141C>G p.Q2381E Missense 34/34 - 1
9-139391050-G-T c.7141C>A p.Q2381K Missense 34/34 - 1
9-139391052-A-C c.7139T>G p.V2380G Missense 34/34 - 1
9-139391052-A-T c.7139T>A p.V2380E Missense 34/34 - 1
9-139391053-C-A c.7138G>T p.V2380L Missense 34/34 - 1
9-139391053-C-G c.7138G>C p.V2380L Missense 34/34 - 1
9-139391055-A-T c.7136T>A p.L2379Q Missense 34/34 - 1
9-139391058-T-A c.7133A>T p.H2378L Missense 34/34 - 1
9-139391059-G-A c.7132C>T p.H2378Y Missense 34/34 - 4
9-139391061-G-A c.7130C>T p.P2377L Missense 34/34 - 3
9-139391061-G-T c.7130C>A p.P2377H Missense 34/34 - 1
9-139391062-G-A c.7129C>T p.P2377S Missense 34/34 - 1
9-139391063-C-A c.7128G>T p.Q2376H Missense 34/34 - 2
9-139391063-C-G c.7128G>C p.Q2376H Missense 34/34 - 3
9-139391065-G-T c.7126C>A p.Q2376K Missense 34/34 - 2
9-139391064-TG-T c.7126del p.Q2376Sfs*46 Frameshift 34/34 - 1
9-139391067-G-A c.7124C>T p.T2375I Missense 34/34 - 2
9-139391068-T-C c.7123A>G p.T2375A Missense 34/34 - 1
9-139391070-G-A c.7121C>T p.A2374V Missense 34/34 - 2
9-139391070-G-T c.7121C>A p.A2374D Missense 34/34 - 1
9-139391076-C-T c.7115G>A p.R2372Q Missense 34/34 - 9
9-139391077-G-A c.7114C>T p.R2372W Missense 34/34 - 3
9-139391079-G-A c.7112C>T p.T2371I Missense 34/34 - 1
9-139391079-G-C c.7112C>G p.T2371S Missense 34/34 - 8
9-139391080-T-A c.7111A>T p.T2371S Missense 34/34 - 4
9-139391080-T-G c.7111A>C p.T2371P Missense 34/34 - 1
9-139391081-G-T c.7110C>A p.S2370R Missense 34/34 - 1
9-139391082-C-T c.7109G>A p.S2370N Missense 34/34 - 1
9-139391086-G-A c.7105C>T p.P2369S Missense 34/34 - 2
9-139391091-C-A c.7100G>T p.G2367V Missense 34/34 - 2
9-139391091-C-G c.7100G>C p.G2367A Missense 34/34 - 1
9-139391092-C-T c.7099G>A p.G2367S Missense 34/34 - 1
9-139391093-C-A c.7098G>T p.Q2366H Missense 34/34 - 1
9-139391094-T-A c.7097A>T p.Q2366L Missense 34/34 - 1
9-139391095-G-A c.7096C>T p.Q2366* Nonsense 34/34 - 1
9-139391096-G-T c.7095C>A p.Y2365* Nonsense 34/34 - 1
9-139391100-CT-GG c.7090_7091delinsCC p.S2364P Missense 34/34 - 1
9-139391101-T-C c.7090A>G p.S2364G Missense 34/34 - 6
9-139391102-C-A c.7089G>T p.M2363I Missense 34/34 - 2
9-139391102-C-G c.7089G>C p.M2363I Missense 34/34 - 1
9-139391102-C-T c.7089G>A p.M2363I Missense 34/34 - 2
9-139391103-A-G c.7088T>C p.M2363T Missense 34/34 - 1
9-139391105-C-A c.7086G>T p.M2362I Missense 34/34 - 9
9-139391105-C-G c.7086G>C p.M2362I Missense 34/34 - 5
9-139391105-C-T c.7086G>A p.M2362I Missense 34/34 - 6
9-139391109-T-A c.7082A>T p.Q2361L Missense 34/34 - 1
9-139391110-G-A c.7081C>T p.Q2361* Nonsense 34/34 - 4
9-139391111-G-A c.7080C>T p.S2360= Synonymous 34/34 - 1
9-139391112-G-A c.7079C>T p.S2360F Missense 34/34 - 1
9-139391112-G-T c.7079C>A p.S2360Y Missense 34/34 - 1
9-139391115-A-G c.7076T>C p.L2359P Missense 34/34 - 1
9-139391118-G-A c.7073C>T p.A2358V Missense 34/34 - 2
9-139391118-G-T c.7073C>A p.A2358D Missense 34/34 - 1
9-139391119-C-T c.7072G>A p.A2358T Missense 34/34 - 3
9-139391122-T-C c.7069A>G p.S2357G Missense 34/34 - 1
9-139391123-G-A c.7068C>T p.A2356= Synonymous 34/34 - 2
9-139391123-G-C c.7068C>G p.A2356= Synonymous 34/34 - 2
9-139391123-G-T c.7068C>A p.A2356= Synonymous 34/34 - 2
9-139391124-G-A c.7067C>T p.A2356V Missense 34/34 - 4
9-139391124-G-C c.7067C>G p.A2356G Missense 34/34 - 1
9-139391127-G-T c.7064C>A p.A2355D Missense 34/34 - 1
9-139391128-C-T c.7063G>A p.A2355T Missense 34/34 - 1
9-139391128-CA-C c.7062del p.A2355Lfs*8 Frameshift 34/34 - 1
9-139391131-G-A c.7060C>T p.L2354F Missense 34/34 - 1
9-139391132-G-C c.7059C>G p.S2353R Missense 34/34 - 1
9-139391132-G-T c.7059C>A p.S2353R Missense 34/34 - 1
9-139391134-T-G c.7057A>C p.S2353R Missense 34/34 - 1
9-139391133-CT-GC c.7057_7058delinsGC p.S2353A Missense 34/34 - 1
9-139391136-C-T c.7055G>A p.S2352N Missense 34/34 - 2
9-139391138-G-A c.7053C>T p.H2351= Synonymous 34/34 - 1
9-139391139-T-A c.7052A>T p.H2351L Missense 34/34 - 1
9-139391140-G-A c.7051C>T p.H2351Y Missense 34/34 - 2
9-139391142-A-AT c.7048_7049insA p.L2350Hfs*4 Frameshift 34/34 - 1
9-139391144-C-A c.7047G>T p.P2349= Synonymous 34/34 - 3
9-139391144-C-G c.7047G>C p.P2349= Synonymous 34/34 - 1
9-139391144-C-T c.7047G>A p.P2349= Synonymous 34/34 - 1
9-139391145-G-A c.7046C>T p.P2349L Missense 34/34 - 2
9-139391146-G-C c.7045C>G p.P2349A Missense 34/34 - 1
9-139391146-G-T c.7045C>A p.P2349T Missense 34/34 - 1
9-139391148-C-T c.7043G>A p.G2348D Missense 34/34 - 1
9-139391151-A-G c.7040T>C p.V2347A Missense 34/34 - 2
9-139391152-C-T c.7039G>A p.V2347I Missense 34/34 - 1
9-139391155-T-A c.7036A>T p.M2346L Missense 34/34 - 1
9-139391155-T-TTCATTTCC c.7035_7036insGGAAATGA p.M2346Gfs*5 Frameshift 34/34 - 1
9-139391157-C-A c.7034G>T p.G2345V Missense 34/34 - 5
9-139391157-C-T c.7034G>A p.G2345D Missense 34/34 - 1
9-139391158-C-T c.7033G>A p.G2345S Missense 34/34 - 2
9-139391160-T-G c.7031A>C p.H2344P Missense 34/34 - 1
9-139391163-T-A c.7028A>T p.Q2343L Missense 34/34 - 1
9-139391163-T-C c.7028A>G p.Q2343R Missense 34/34 - 1
9-139391164-G-A c.7027C>T p.Q2343* Nonsense 34/34 - 2
9-139391166-A-T c.7025T>A p.L2342Q Missense 34/34 - 1
9-139391166-CA-C c.7025del p.L2342Rfs*6 Frameshift 34/34 - 1
9-139391168-G-A c.7023C>T p.S2341= Synonymous 34/34 - 1
9-139391166-AG-A c.7024del p.L2342Cfs*6 Frameshift 34/34 - 1
9-139391169-G-A c.7022C>T p.S2341F Missense 34/34 - 3
9-139391169-G-C c.7022C>G p.S2341C Missense 34/34 - 1
9-139391167-GGGA-G c.7021_7023del p.S2341del InFrameDeletion 34/34 - 1
9-139391168-GGA-G c.7021_7022del p.S2341Pfs*12 Frameshift 34/34 - 1
9-139391170-A-C c.7021T>G p.S2341A Missense 34/34 - 1
9-139391172-G-A c.7019C>T p.P2340L Missense 34/34 - 1
9-139391173-G-A c.7018C>T p.P2340S Missense 34/34 - 2
9-139391173-G-GA c.7017_7018insT p.P2340Sfs*14 Frameshift 34/34 - 1
9-139391174-G-GA c.7016_7017insT p.S2341Lfs*13 Frameshift 34/34 - 1
9-139391170-A-AG c.7020dup p.S2341Lfs*13 Frameshift 34/34 - 2
9-139391170-AG-A c.7020del p.S2341Pfs*7 Frameshift 34/34 - 2
9-139391175-G-A c.7016C>T p.A2339V Missense 34/34 - 1
9-139391175-G-GT c.7015_7016insA p.A2339Dfs*15 Frameshift 34/34 - 1
9-139391175-G-T c.7016C>A p.A2339D Missense 34/34 - 5
9-139391176-C-T c.7015G>A p.A2339T Missense 34/34 - 6
9-139391179-G-A c.7012C>T p.Q2338* Nonsense 34/34 - 2
9-139391169-GAGGGGGCCTGTGTGCTC-G c.7005_7021del p.S2336Pfs*12 Frameshift 34/34 - 1
9-139391177-CTG-C c.7012_7013del p.Q2338Gfs*15 Frameshift 34/34 - 1
9-139391182-T-G c.7009A>C p.T2337P Missense 34/34 - 1
9-139391184-C-T c.7007G>A p.S2336N Missense 34/34 - 3
9-139391185-T-G c.7006A>C p.S2336R Missense 34/34 - 1
9-139391190-G-A c.7001C>T p.P2334L Missense 34/34 - 2
9-139391190-G-T c.7001C>A p.P2334H Missense 34/34 - 1
9-139391191-G-A c.7000C>T p.P2334S Missense 34/34 - 1
9-139391187-A-AG c.7003dup p.L2335Pfs*19 Frameshift 34/34 - 4
9-139391187-AG-A c.7003del p.L2335* Frameshift 34/34 - 1
9-139391193-C-A c.6998G>T p.G2333V Missense 34/34 - 2
9-139391196-G-A c.6995C>T p.P2332L Missense 34/34 - 5
9-139391196-G-T c.6995C>A p.P2332Q Missense 34/34 - 1
9-139391197-G-C c.6994C>G p.P2332A Missense 34/34 - 2
9-139391199-G-A c.6992C>T p.A2331V Missense 34/34 - 2
9-139391200-C-A c.6991G>T p.A2331S Missense 34/34 - 2
9-139391200-C-T c.6991G>A p.A2331T Missense 34/34 - 11
9-139391203-C-T c.6988G>A p.V2330M Missense 34/34 - 2
9-139391200-CCA-C c.6989_6990del p.V2330Gfs*23 Frameshift 34/34 - 1
9-139391204-CA-C c.6987del p.S2329Rfs*7 Frameshift 34/34 - 1
9-139391205-C-T c.6986G>A p.S2329N Missense 34/34 - 1
9-139391206-T-A c.6985A>T p.S2329C Missense 34/34 - 3
9-139391208-C-A c.6983G>T p.G2328V Missense 34/34 - 1
9-139391209-C-G c.6982G>C p.G2328R Missense 34/34 - 1
9-139391209-C-T c.6982G>A p.G2328R Missense 34/34 - 1
9-139391206-TC-T c.6984del p.S2329Vfs*7 Frameshift 34/34 - 3
9-139391206-T-TC c.6984dup p.S2329Efs*25 Frameshift 34/34 - 2
9-139391211-C-T c.6980G>A p.R2327Q Missense 34/34 - 4
9-139391212-G-A c.6979C>T p.R2327W Missense 34/34 - 21
9-139391212-G-C c.6979C>G p.R2327G Missense 34/34 - 1
9-139391216-A-C c.6975T>G p.P2325= Synonymous 34/34 - 1
9-139391216-A-G c.6975T>C p.P2325= Synonymous 34/34 - 1
9-139391216-A-T c.6975T>A p.P2325= Synonymous 34/34 - 1
9-139391217-G-A c.6974C>T p.P2325L Missense 34/34 - 1
9-139391218-G-A c.6973C>T p.P2325S Missense 34/34 - 1
9-139391216-AG-A c.6974del p.P2325Lfs*11 Frameshift 34/34 - 1
9-139391219-G-C c.6972C>G p.N2324K Missense 34/34 - 1
9-139391219-G-T c.6972C>A p.N2324K Missense 34/34 - 2
9-139391220-T-G c.6971A>C p.N2324T Missense 34/34 - 1
9-139391224-A-C c.6967T>G p.Y2323D Missense 34/34 - 1
9-139391224-A-G c.6967T>C p.Y2323H Missense 34/34 - 3
9-139391227-G-A c.6964C>T p.Q2322* Nonsense 34/34 - 1
9-139391228-G-C c.6963C>G p.N2321K Missense 34/34 - 1
9-139391228-G-T c.6963C>A p.N2321K Missense 34/34 - 1
9-139391231-C-A c.6960G>T p.P2320= Synonymous 34/34 - 1
9-139391231-C-G c.6960G>C p.P2320= Synonymous 34/34 - 1
9-139391231-C-T c.6960G>A p.P2320= Synonymous 34/34 - 1
9-139391232-G-A c.6959C>T p.P2320L Missense 34/34 - 1
9-139391232-G-C c.6959C>G p.P2320R Missense 34/34 - 1
9-139391233-G-A c.6958C>T p.P2320S Missense 34/34 - 1
9-139391236-C-T c.6955G>A p.V2319M Missense 34/34 - 2
9-139391241-C-T c.6950G>A p.G2317D Missense 34/34 - 1
9-139391242-C-A c.6949G>T p.G2317C Missense 34/34 - 1
9-139391242-C-T c.6949G>A p.G2317S Missense 34/34 - 2
9-139391245-CT-C c.6946del p.S2316Afs*20 Frameshift 34/34 - 1
9-139391241-C-CCGCTCAGATCGGAAGAGCACACGTCTGAACTCCAGTCACAACGCTTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAA c.6949_6950insTTTTTTTCAAGCAGAAGACGGCATACGAGATTAAGCGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTGAGCG p.S2316_G2317insVFFKQKTAYEIKRCDWSSDVCSSDLS InFrameInsertion 34/34 - 1
9-139391247-T-C c.6944A>G p.Q2315R Missense 34/34 - 1
9-139391248-G-A c.6943C>T p.Q2315* Nonsense 34/34 - 1
9-139391248-G-T c.6943C>A p.Q2315K Missense 34/34 - 1
9-139391249-C-A c.6942G>T p.L2314= Synonymous 34/34 - 1
9-139391249-C-G c.6942G>C p.L2314= Synonymous 34/34 - 1
9-139391249-C-T c.6942G>A p.L2314= Synonymous 34/34 - 1
9-139391251-G-A c.6940C>T p.L2314= Synonymous 34/34 - 1
9-139391250-A-G c.6941T>C p.L2314P Missense 34/34 - 4
9-139391250-A-T c.6941T>A p.L2314Q Missense 34/34 - 1
9-139391253-C-T c.6938G>A p.R2313Q Missense 34/34 - 8
9-139391252-C-A c.6939G>T p.R2313= Synonymous 34/34 - 3
9-139391252-C-G c.6939G>C p.R2313= Synonymous 34/34 - 3
9-139391252-C-T c.6939G>A p.R2313= Synonymous 34/34 - 6
9-139391254-G-A c.6937C>T p.R2313W Missense 34/34 - 6
9-139391254-G-C c.6937C>G p.R2313G Missense 34/34 - 1
9-139391254-G-T c.6937C>A p.R2313= Synonymous 34/34 - 3
9-139391256-G-A c.6935C>T p.S2312F Missense 34/34 - 4
9-139391261-C-T c.6930G>A p.W2310* Nonsense 34/34 - 1
9-139391262-C-T c.6929G>A p.W2310* Nonsense 34/34 - 1
9-139391263-A-G c.6928T>C p.W2310R Missense 34/34 - 2
9-139391263-A-T c.6928T>A p.W2310R Missense 34/34 - 1
9-139391265-CT-C c.6926del p.E2309Gfs*27 Frameshift 34/34 - 1
9-139391265-T-C c.6926A>G p.E2309G Missense 34/34 - 1
9-139391266-C-T c.6925G>A p.E2309K Missense 34/34 - 1
9-139391266-TC-T c.6925del p.E2309Sfs*27 Frameshift 34/34 - 1
9-139391267-G-A c.6924C>T p.C2308= Synonymous 34/34 - 2
9-139391268-CA-GT c.6922_6923delinsAC p.C2308T Missense 34/34 - 1
9-139391268-C-T c.6923G>A p.C2308Y Missense 34/34 - 1
9-139391271-T-C c.6920A>G p.Q2307R Missense 34/34 - 7
9-139391272-G-A c.6919C>T p.Q2307* Nonsense 34/34 - 2
9-139391274-C-GGT c.6917delinsACC p.G2306Dfs*31 Frameshift 34/34 - 1
9-139391275-C-T c.6916G>A p.G2306S Missense 34/34 - 1
9-139391277-T-A c.6914A>T p.N2305I Missense 34/34 - 1
9-139391276-AT-A c.6914del p.N2305Mfs*31 Frameshift 34/34 - 1
9-139391280-A-G c.6911T>C p.L2304S Missense 34/34 - 1
9-139391280-A-T c.6911T>A p.L2304* Nonsense 34/34 - 1
9-139391281-A-C c.6910T>G p.L2304V Missense 34/34 - 2
9-139391279-CA-C c.6911del p.L2304* Frameshift 34/34 - 1
9-139391284-T-A c.6907A>T p.S2303C Missense 34/34 - 1
9-139391284-T-C c.6907A>G p.S2303G Missense 34/34 - 1
9-139391287-T-C c.6904A>G p.T2302A Missense 34/34 - 1
9-139391288-G-A c.6903C>T p.S2301= Synonymous 34/34 - 1
9-139391288-G-C c.6903C>G p.S2301= Synonymous 34/34 - 1
9-139391288-G-T c.6903C>A p.S2301= Synonymous 34/34 - 1
9-139391292-C-A c.6899G>T p.G2300V Missense 34/34 - 6
9-139391293-C-G c.6898G>C p.G2300R Missense 34/34 - 4
9-139391293-C-T c.6898G>A p.G2300R Missense 34/34 - 6
9-139391294-G-A c.6897C>T p.G2299= Synonymous 34/34 - 1
9-139391295-C-T c.6896G>A p.G2299D Missense 34/34 - 2
9-139391296-C-T c.6895G>A p.G2299S Missense 34/34 - 1
9-139391299-CAGTGA-C c.6887_6891del p.F2296Cfs*56 Frameshift 34/34 - 1
9-139391300-AGT-A c.6889_6890del p.T2297Cfs*56 Frameshift 34/34 - 1
9-139391302-T-C c.6889A>G p.T2297A Missense 34/34 - 1
9-139391302-T-G c.6889A>C p.T2297P Missense 34/34 - 1
9-139391306-A-G c.6885T>C p.N2295= Synonymous 34/34 - 1
9-139391307-T-A c.6884A>T p.N2295I Missense 34/34 - 2
9-139391307-T-C c.6884A>G p.N2295S Missense 34/34 - 1
9-139391310-A-C c.6881T>G p.L2294R Missense 34/34 - 1
9-139391313-G-C c.6878C>G p.A2293G Missense 34/34 - 1
9-139391313-GGCCCCTCCGCTGCTGGAGCCCAGGACGGTGCTGGTGCCAGAGGCCACAGGCAGGTGGGA-G c.6820_6878del p.S2274Pfs*60 Frameshift 34/34 - 1
9-139391314-C-G c.6877G>C p.A2293P Missense 34/34 - 1
9-139391314-C-T c.6877G>A p.A2293T Missense 34/34 - 1
9-139391316-C-A c.6875G>T p.G2292V Missense 34/34 - 1
9-139391316-C-T c.6875G>A p.G2292E Missense 34/34 - 3
9-139391313-GC-G c.6877del p.A2293Pfs*2 Frameshift 34/34 - 1
9-139391317-C-A c.6874G>T p.G2292W Missense 34/34 - 1
9-139391317-C-CT c.6873dup p.G2292Rfs*62 Frameshift 34/34 - 3
9-139391319-C-T c.6872G>A p.G2291E Missense 34/34 - 9
9-139391320-C-A c.6871G>T p.G2291* Nonsense 34/34 - 2
9-139391320-C-G c.6871G>C p.G2291R Missense 34/34 - 1
9-139391320-C-T c.6871G>A p.G2291R Missense 34/34 - 1
9-139391321-G-A c.6870C>T p.S2290= Synonymous 34/34 - 6
9-139391321-G-C c.6870C>G p.S2290R Missense 34/34 - 1
9-139391321-G-T c.6870C>A p.S2290R Missense 34/34 - 1
9-139391323-T-G c.6868A>C p.S2290R Missense 34/34 - 1
9-139391323-T-C c.6868A>G p.S2290G Missense 34/34 - 1
9-139391324-G-C c.6867C>G p.S2289R Missense 34/34 - 4
9-139391324-G-T c.6867C>A p.S2289R Missense 34/34 - 3
9-139391326-T-G c.6865A>C p.S2289R Missense 34/34 - 3
9-139391325-C-A c.6866G>T p.S2289I Missense 34/34 - 4
9-139391325-C-T c.6866G>A p.S2289N Missense 34/34 - 1
9-139391327-G-A c.6864C>T p.S2288= Synonymous 34/34 - 3
9-139391327-G-C c.6864C>G p.S2288= Synonymous 34/34 - 1
9-139391327-G-T c.6864C>A p.S2288= Synonymous 34/34 - 1
9-139391328-G-A c.6863C>T p.S2288F Missense 34/34 - 1
9-139391329-A-T c.6862T>A p.S2288T Missense 34/34 - 1
9-139391332-C-A c.6859G>T p.G2287C Missense 34/34 - 1
9-139391332-C-T c.6859G>A p.G2287S Missense 34/34 - 1
9-139391334-AG-GC c.6856_6857delinsGC p.L2286A Missense 34/34 - 1
9-139391336-G-C c.6855C>G p.V2285= Synonymous 34/34 - 1
9-139391336-G-T c.6855C>A p.V2285= Synonymous 34/34 - 1
9-139391338-C-A c.6853G>T p.V2285F Missense 34/34 - 1
9-139391338-C-G c.6853G>C p.V2285L Missense 34/34 - 1
9-139391338-C-T c.6853G>A p.V2285I Missense 34/34 - 21
9-139391339-G-A c.6852C>T p.T2284= Synonymous 34/34 - 1
9-139391339-G-C c.6852C>G p.T2284= Synonymous 34/34 - 1
9-139391339-G-T c.6852C>A p.T2284= Synonymous 34/34 - 1
9-139391340-G-A c.6851C>T p.T2284I Missense 34/34 - 2
9-139391341-T-C c.6850A>G p.T2284A Missense 34/34 - 3
9-139391341-T-G c.6850A>C p.T2284P Missense 34/34 - 1
9-139391343-C-G c.6848G>C p.S2283T Missense 34/34 - 1
9-139391346-G-A c.6845C>T p.T2282I Missense 34/34 - 1
9-139391346-G-C c.6845C>G p.T2282S Missense 34/34 - 1
9-139391347-T-A c.6844A>T p.T2282S Missense 34/34 - 1
9-139391344-TGGTGCCAGAGGCCACAGGCAGGTGGGAGAGACGAGGTGGGCCAGTCTCAAAGGCCAGCC-T c.6788_6846del p.R2263Qfs*71 InFrameDeletion 34/34 - 1
9-139391349-C-G c.6842G>C p.G2281A Missense 34/34 - 1
9-139391352-G-A c.6839C>T p.S2280F Missense 34/34 - 2
9-139391352-G-C c.6839C>G p.S2280C Missense 34/34 - 4
9-139391353-A-C c.6838T>G p.S2280A Missense 34/34 - 1
9-139391353-A-G c.6838T>C p.S2280P Missense 34/34 - 1
9-139391355-G-A c.6836C>T p.A2279V Missense 34/34 - 3
9-139391356-C-T c.6835G>A p.A2279T Missense 34/34 - 1
9-139391357-C-T c.6834G>A p.V2278= Synonymous 34/34 - 1
9-139391356-CCA-C c.6833_6834del p.V2278Gfs*75 Frameshift 34/34 - 1
9-139391359-C-T c.6832G>A p.V2278M Missense 34/34 - 2
9-139391360-CA-C c.6831del p.V2278Wfs*17 Frameshift 34/34 - 1
9-139391361-G-A c.6830C>T p.P2277L Missense 34/34 - 1
9-139391361-G-T c.6830C>A p.P2277H Missense 34/34 - 1
9-139391360-AG-A c.6830del p.P2277Lfs*18 Frameshift 34/34 - 1
9-139391362-G-A c.6829C>T p.P2277S Missense 34/34 - 2
9-139391363-CAG-ACA c.6826_6828delinsTGT p.L2276C Missense 34/34 - 1
9-139391364-AG-A c.6826del p.L2276Cfs*19 Frameshift 34/34 - 1
9-139391366-G-C c.6825C>G p.H2275Q Missense 34/34 - 1
9-139391366-G-T c.6825C>A p.H2275Q Missense 34/34 - 1
9-139391367-T-A c.6824A>T p.H2275L Missense 34/34 - 2
9-139391369-G-A c.6822C>T p.S2274= Synonymous 34/34 - 2
9-139391369-G-C c.6822C>G p.S2274= Synonymous 34/34 - 2
9-139391369-GG-TT c.6821_6822delinsAA p.S2274* Nonsense 34/34 - 1
9-139391369-G-T c.6822C>A p.S2274= Synonymous 34/34 - 2
9-139391370-G-A c.6821C>T p.S2274F Missense 34/34 - 1
9-139391370-G-T c.6821C>A p.S2274Y Missense 34/34 - 1
9-139391371-A-G c.6820T>C p.S2274P Missense 34/34 - 1
9-139391373-A-G c.6818T>C p.L2273P Missense 34/34 - 1
9-139391369-GGA-G c.6820_6821del p.S2274Pfs*79 Frameshift 34/34 - 2
9-139391374-G-A c.6817C>T p.L2273F Missense 34/34 - 1
9-139391375-A-ACAGAGAAGTC c.6815_6816insGACTTCTCTG p.L2273Tfs*84 Frameshift 34/34 - 1
9-139391376-C-CCCACTAA c.6814_6815insTTAGTGG p.R2272Lfs*84 Frameshift 34/34 - 1
9-139391376-C-T c.6815G>A p.R2272H Missense 34/34 - 9
9-139391377-G-A c.6814C>T p.R2272C Missense 34/34 - 10
9-139391379-G-T c.6812C>A p.P2271H Missense 34/34 - 1
9-139391380-G-A c.6811C>T p.P2271S Missense 34/34 - 2
9-139391381-T-C c.6810A>G p.P2270= Synonymous 34/34 - 1
9-139391382-G-A c.6809C>T p.P2270L Missense 34/34 - 2
9-139391382-G-T c.6809C>A p.P2270Q Missense 34/34 - 1
9-139391385-C-G c.6806G>C p.G2269A Missense 34/34 - 1
9-139391385-C-T c.6806G>A p.G2269D Missense 34/34 - 1
9-139391386-C-G c.6805G>C p.G2269R Missense 34/34 - 1
9-139391388-G-A c.6803C>T p.T2268I Missense 34/34 - 1
9-139391392-C-G c.6799G>C p.E2267Q Missense 34/34 - 5
9-139391392-TCA-T c.6798_6799del p.F2266Lfs*87 Frameshift 34/34 - 1
9-139391394-A-G c.6797T>C p.F2266S Missense 34/34 - 2
9-139391392-CA-C c.6798del p.F2266Lfs*29 Frameshift 34/34 - 1
9-139391396-G-A c.6795C>T p.A2265= Synonymous 34/34 - 1
9-139391398-C-T c.6793G>A p.A2265T Missense 34/34 - 1
9-139391399-C-CG c.6791_6792insC p.A2265Gfs*3 Frameshift 34/34 - 1
9-139391399-C-T c.6792G>A p.L2264= Synonymous 34/34 - 1
9-139391400-A-G c.6791T>C p.L2264P Missense 34/34 - 1
9-139391402-CCG-GAT c.6787_6789delinsATC p.R2263I Missense 34/34 - 1
9-139391403-C-A c.6788G>T p.R2263L Missense 34/34 - 1
9-139391403-C-T c.6788G>A p.R2263Q Missense 34/34 - 24
9-139391402-C-A c.6789G>T p.R2263= Synonymous 34/34 - 1
9-139391402-C-G c.6789G>C p.R2263= Synonymous 34/34 - 1
9-139391402-C-T c.6789G>A p.R2263= Synonymous 34/34 - 1
9-139391404-G-A c.6787C>T p.R2263W Missense 34/34 - 3
9-139391404-G-T c.6787C>A p.R2263= Synonymous 34/34 - 1
9-139391406-C-G c.6785G>C p.G2262A Missense 34/34 - 1
9-139391407-C-T c.6784G>A p.G2262S Missense 34/34 - 4
9-139391408-G-T c.6783C>A p.G2261= Synonymous 34/34 - 2
9-139391410-C-A c.6781G>T p.G2261C Missense 34/34 - 1
9-139391410-C-T c.6781G>A p.G2261S Missense 34/34 - 1
9-139391408-GC-G c.6782del p.G2261Afs*34 Frameshift 34/34 - 1
9-139391413-C-A c.6778G>T p.G2260W Missense 34/34 - 1
9-139391414-A-C c.6777T>G p.G2259= Synonymous 34/34 - 1
9-139391414-A-G c.6777T>C p.G2259= Synonymous 34/34 - 3
9-139391414-A-T c.6777T>A p.G2259= Synonymous 34/34 - 1
9-139391415-C-A c.6776G>T p.G2259V Missense 34/34 - 1
9-139391415-C-T c.6776G>A p.G2259D Missense 34/34 - 1
9-139391416-C-A c.6775G>T p.G2259C Missense 34/34 - 1
9-139391416-C-G c.6775G>C p.G2259R Missense 34/34 - 2
9-139391416-C-T c.6775G>A p.G2259S Missense 34/34 - 1
9-139391414-AC-A c.6776del p.G2259Vfs*36 Frameshift 34/34 - 1
9-139391418-A-G c.6773T>C p.L2258P Missense 34/34 - 1
9-139391418-A-T c.6773T>A p.L2258Q Missense 34/34 - 1
9-139391419-AG-A c.6772del p.L2258Wfs*37 Frameshift 34/34 - 1
9-139391420-C-A c.6771G>T p.A2257= Synonymous 34/34 - 1
9-139391420-C-G c.6771G>C p.A2257= Synonymous 34/34 - 1
9-139391420-C-T c.6771G>A p.A2257= Synonymous 34/34 - 1
9-139391421-G-A c.6770C>T p.A2257V Missense 34/34 - 4
9-139391422-C-T c.6769G>A p.A2257T Missense 34/34 - 3
9-139391424-G-A c.6767C>T p.A2256V Missense 34/34 - 10
9-139391427-A-G c.6764T>C p.M2255T Missense 34/34 - 1
9-139391431-C-T c.6760G>A p.E2254K Missense 34/34 - 4
9-139391431-TCGGGCTTGGCCGCCAC-T c.6745_6760del p.V2249Rfs*41 Frameshift 34/34 - 1
9-139391433-G-A c.6758C>T p.P2253L Missense 34/34 - 2
9-139391436-T-C c.6755A>G p.K2252R Missense 34/34 - 1
9-139391436-T-G c.6755A>C p.K2252T Missense 34/34 - 1
9-139391439-G-A c.6752C>T p.A2251V Missense 34/34 - 1
9-139391439-GC-CA c.6751_6752delinsTG p.A2251C Missense 34/34 - 1
9-139391440-C-A c.6751G>T p.A2251S Missense 34/34 - 1
9-139391440-C-T c.6751G>A p.A2251T Missense 34/34 - 3
9-139391442-G-A c.6749C>T p.A2250V Missense 34/34 - 11
9-139391443-C-A c.6748G>T p.A2250S Missense 34/34 - 1
9-139391446-C-T c.6745G>A p.V2249M Missense 34/34 - 2
9-139391448-T-A c.6743A>T p.N2248I Missense 34/34 - 1
9-139391450-C-A c.6741G>T p.L2247= Synonymous 34/34 - 1
9-139391450-C-G c.6741G>C p.L2247= Synonymous 34/34 - 1
9-139391450-C-T c.6741G>A p.L2247= Synonymous 34/34 - 1
9-139391452-G-A c.6739C>T p.L2247= Synonymous 34/34 - 1
9-139391452-G-C c.6739C>G p.L2247V Missense 34/34 - 1
9-139391455-G-A c.6736C>T p.H2246Y Missense 34/34 - 3
9-139391456-CCC-GCT c.6733_6735delinsAGC p.G2245S Missense 34/34 - 1
9-139391457-C-T c.6734G>A p.G2245E Missense 34/34 - 1
9-139391458-C-A c.6733G>T p.G2245W Missense 34/34 - 2
9-139391458-C-G c.6733G>C p.G2245R Missense 34/34 - 2
9-139391458-C-T c.6733G>A p.G2245R Missense 34/34 - 11
9-139391459-G-A c.6732C>T p.I2244= Synonymous 34/34 - 6
9-139391459-G-T c.6732C>A p.I2244= Synonymous 34/34 - 1
9-139391461-T-A c.6730A>T p.I2244F Missense 34/34 - 1
9-139391463-C-T c.6728G>A p.G2243D Missense 34/34 - 1
9-139391464-C-A c.6727G>T p.G2243C Missense 34/34 - 1
9-139391464-C-T c.6727G>A p.G2243S Missense 34/34 - 5
9-139391469-T-A c.6722A>T p.H2241L Missense 34/34 - 1
9-139391471-G-C c.6720C>G p.T2240= Synonymous 34/34 - 2
9-139391469-TG-T c.6721del p.H2241Tfs*7 Frameshift 34/34 - 1
9-139391476-C-A c.6715G>T p.D2239Y Missense 34/34 - 2
9-139391476-C-T c.6715G>A p.D2239N Missense 34/34 - 7
9-139391477-G-A c.6714C>T p.P2238= Synonymous 34/34 - 2
9-139391477-G-C c.6714C>G p.P2238= Synonymous 34/34 - 2
9-139391477-G-T c.6714C>A p.P2238= Synonymous 34/34 - 2
9-139391478-G-T c.6713C>A p.P2238H Missense 34/34 - 1
9-139391480-C-A c.6711G>T p.M2237I Missense 34/34 - 1
9-139391480-C-G c.6711G>C p.M2237I Missense 34/34 - 1
9-139391480-C-T c.6711G>A p.M2237I Missense 34/34 - 1
9-139391484-C-T c.6707G>A p.G2236E Missense 34/34 - 1
9-139391487-G-C c.6704C>G p.P2235R Missense 34/34 - 1
9-139391484-CCAGG-C c.6703_6706del p.P2235Gfs*12 Frameshift 34/34 - 1
9-139391489-C-A c.6702G>T p.L2234= Synonymous 34/34 - 2
9-139391489-C-G c.6702G>C p.L2234= Synonymous 34/34 - 1
9-139391489-C-T c.6702G>A p.L2234= Synonymous 34/34 - 1
9-139391491-G-A c.6700C>T p.L2234= Synonymous 34/34 - 1
9-139391491-G-C c.6700C>G p.L2234V Missense 34/34 - 1
9-139391493-T-C c.6698A>G p.H2233R Missense 34/34 - 1
9-139391493-T-G c.6698A>C p.H2233P Missense 34/34 - 1
9-139391494-G-A c.6697C>T p.H2233Y Missense 34/34 - 1
9-139391495-G-A c.6696C>T p.N2232= Synonymous 34/34 - 1
9-139391496-T-C c.6695A>G p.N2232S Missense 34/34 - 1
9-139391496-T-G c.6695A>C p.N2232T Missense 34/34 - 1
9-139391497-T-A c.6694A>T p.N2232Y Missense 34/34 - 1
9-139391498-G-A c.6693C>T p.L2231= Synonymous 34/34 - 4
9-139391498-G-C c.6693C>G p.L2231= Synonymous 34/34 - 3
9-139391498-G-T c.6693C>A p.L2231= Synonymous 34/34 - 2
9-139391499-A-G c.6692T>C p.L2231P Missense 34/34 - 1
9-139391501-G-A c.6690C>T p.P2230= Synonymous 34/34 - 1
9-139391502-G-A c.6689C>T p.P2230L Missense 34/34 - 1
9-139391502-G-T c.6689C>A p.P2230H Missense 34/34 - 1
9-139391499-AG-A c.6691del p.L2231Sfs*17 Frameshift 34/34 - 1
9-139391503-G-A c.6688C>T p.P2230S Missense 34/34 - 1
9-139391506-C-T c.6685G>A p.V2229M Missense 34/34 - 8
9-139391507-G-A c.6684C>T p.S2228= Synonymous 34/34 - 3
9-139391507-G-C c.6684C>G p.S2228= Synonymous 34/34 - 3
9-139391507-G-T c.6684C>A p.S2228= Synonymous 34/34 - 4
9-139391508-G-A c.6683C>T p.S2228F Missense 34/34 - 2
9-139391509-A-G c.6682T>C p.S2228P Missense 34/34 - 1
9-139391510-C-A c.6681G>T p.P2227= Synonymous 34/34 - 1
9-139391510-C-G c.6681G>C p.P2227= Synonymous 34/34 - 1
9-139391510-C-T c.6681G>A p.P2227= Synonymous 34/34 - 2
9-139391511-G-A c.6680C>T p.P2227L Missense 34/34 - 5
9-139391510-CG-C c.6680del p.P2227Rfs*21 Frameshift 34/34 - 1
9-139391512-G-A c.6679C>T p.P2227S Missense 34/34 - 12
9-139391513-AG-CC c.6677_6678delinsGG p.S2226W Missense 34/34 - 1
9-139391518-G-A c.6673C>T p.Q2225* Nonsense 34/34 - 3
9-139391518-G-T c.6673C>A p.Q2225K Missense 34/34 - 1
9-139391520-T-A c.6671A>T p.Q2224L Missense 34/34 - 1
9-139391521-G-A c.6670C>T p.Q2224* Nonsense 34/34 - 2
9-139391520-TG-T c.6670del p.Q2224Sfs*24 Frameshift 34/34 - 1
9-139391524-A-T c.6667T>A p.F2223I Missense 34/34 - 1
9-139391526-G-A c.6665C>T p.P2222L Missense 34/34 - 12
9-139391526-G-T c.6665C>A p.P2222Q Missense 34/34 - 1
9-139391527-G-A c.6664C>T p.P2222S Missense 34/34 - 9
9-139391528-G-A c.6663C>T p.S2221= Synonymous 34/34 - 1
9-139391525-CG-C c.6665del p.P2222Rfs*26 Frameshift 34/34 - 1
9-139391529-G-A c.6662C>T p.S2221F Missense 34/34 - 1
9-139391532-G-A c.6659C>T p.P2220L Missense 34/34 - 1
9-139391533-G-A c.6658C>T p.P2220S Missense 34/34 - 2
9-139391534-C-A c.6657G>T p.L2219= Synonymous 34/34 - 1
9-139391534-C-G c.6657G>C p.L2219= Synonymous 34/34 - 1
9-139391534-C-T c.6657G>A p.L2219= Synonymous 34/34 - 1
9-139391536-G-A c.6655C>T p.L2219= Synonymous 34/34 - 2
9-139391536-G-T c.6655C>A p.L2219M Missense 34/34 - 1
9-139391539-G-T c.6652C>A p.L2218M Missense 34/34 - 1
9-139391542-G-A c.6649C>T p.P2217S Missense 34/34 - 1
9-139391542-G-GA c.6648_6649insT p.P2217Sfs*51 Frameshift 34/34 - 1
9-139391543-C-A c.6648G>T p.P2216= Synonymous 34/34 - 1
9-139391543-C-G c.6648G>C p.P2216= Synonymous 34/34 - 1
9-139391543-C-T c.6648G>A p.P2216= Synonymous 34/34 - 10
9-139391544-G-A c.6647C>T p.P2216L Missense 34/34 - 4
9-139391545-G-A c.6646C>T p.P2216S Missense 34/34 - 1
9-139391546-C-A c.6645G>T p.S2215= Synonymous 34/34 - 4
9-139391546-C-G c.6645G>C p.S2215= Synonymous 34/34 - 5
9-139391546-C-T c.6645G>A p.S2215= Synonymous 34/34 - 5
9-139391547-G-A c.6644C>T p.S2215L Missense 34/34 - 14
9-139391548-A-C c.6643T>G p.S2215A Missense 34/34 - 1
9-139391548-A-T c.6643T>A p.S2215T Missense 34/34 - 1
9-139391548-GA-G c.6643del p.S2215Rfs*33 Frameshift 34/34 - 1
9-139391550-G-A c.6641C>T p.A2214V Missense 34/34 - 1
9-139391554-C-A c.6637G>T p.V2213L Missense 34/34 - 2
9-139391554-C-G c.6637G>C p.V2213L Missense 34/34 - 4
9-139391554-C-T c.6637G>A p.V2213M Missense 34/34 - 1
9-139391555-G-A c.6636C>T p.D2212= Synonymous 34/34 - 7
9-139391555-G-T c.6636C>A p.D2212E Missense 34/34 - 1
9-139391556-GT-G c.6635del p.D2212Afs*36 Frameshift 34/34 - 1
9-139391557-C-A c.6634G>T p.D2212Y Missense 34/34 - 2
9-139391558-CT-C c.6633del p.D2212Tfs*36 Frameshift 34/34 - 1
9-139391559-G-A c.6632C>T p.S2211L Missense 34/34 - 2
9-139391559-G-C c.6632C>G p.S2211* Nonsense 34/34 - 7
9-139391559-G-T c.6632C>A p.S2211* Nonsense 34/34 - 1
9-139391560-A-C c.6631T>G p.S2211A Missense 34/34 - 1
9-139391560-A-G c.6631T>C p.S2211P Missense 34/34 - 1
9-139391562-A-G c.6629T>C p.L2210P Missense 34/34 - 1
9-139391561-CAGGT-C c.6626_6629del p.Y2209Cfs*38 Frameshift 34/34 - 1
9-139391564-G-A c.6627C>T p.Y2209= Synonymous 34/34 - 2
9-139391565-T-G c.6626A>C p.Y2209S Missense 34/34 - 1
9-139391566-A-G c.6625T>C p.Y2209H Missense 34/34 - 1
9-139391572-G-A c.6619C>T p.H2207Y Missense 34/34 - 1
9-139391572-G-T c.6619C>A p.H2207N Missense 34/34 - 1
9-139391574-G-T c.6617C>A p.P2206H Missense 34/34 - 1
9-139391571-TG-T c.6619del p.H2207Mfs*41 Frameshift 34/34 - 1
9-139391577-G-A c.6614C>T p.S2205L Missense 34/34 - 1
9-139391577-G-C c.6614C>G p.S2205* Nonsense 34/34 - 1
9-139391577-G-T c.6614C>A p.S2205* Nonsense 34/34 - 1
9-139391578-A-C c.6613T>G p.S2205A Missense 34/34 - 1
9-139391578-A-T c.6613T>A p.S2205T Missense 34/34 - 1
9-139391580-CT-C c.6611del p.E2204Gfs*44 Frameshift 34/34 - 1
9-139391580-TC-T c.6610del p.E2204Sfs*44 Frameshift 34/34 - 1
9-139391582-CCA-C c.6608_6609del p.L2203Rfs*64 Frameshift 34/34 - 1
9-139391585-G-A c.6606C>T p.S2202= Synonymous 34/34 - 2
9-139391583-AG-A c.6607del p.L2203Wfs*45 Frameshift 34/34 - 1
9-139391586-G-A c.6605C>T p.S2202F Missense 34/34 - 2
9-139391589-T-A c.6602A>T p.D2201V Missense 34/34 - 2
9-139391593-C-A c.6598G>T p.V2200L Missense 34/34 - 1
9-139391593-C-G c.6598G>C p.V2200L Missense 34/34 - 1
9-139391593-C-T c.6598G>A p.V2200M Missense 34/34 - 4
9-139391594-G-A c.6597C>T p.P2199= Synonymous 34/34 - 2
9-139391594-G-C c.6597C>G p.P2199= Synonymous 34/34 - 1
9-139391596-G-A c.6595C>T p.P2199S Missense 34/34 - 3
9-139391597-C-A c.6594G>T p.S2198= Synonymous 34/34 - 1
9-139391597-C-G c.6594G>C p.S2198= Synonymous 34/34 - 1
9-139391597-C-T c.6594G>A p.S2198= Synonymous 34/34 - 1
9-139391598-G-A c.6593C>T p.S2198L Missense 34/34 - 12
9-139391598-G-T c.6593C>A p.S2198* Nonsense 34/34 - 3
9-139391599-A-C c.6592T>G p.S2198A Missense 34/34 - 1
9-139391600-G-A c.6591C>T p.L2197= Synonymous 34/34 - 1
9-139391600-G-C c.6591C>G p.L2197= Synonymous 34/34 - 1
9-139391600-G-T c.6591C>A p.L2197= Synonymous 34/34 - 1
9-139391597-CGA-C c.6592_6593del p.S2198Afs*69 Frameshift 34/34 - 1
9-139391603-C-A c.6588G>T p.M2196I Missense 34/34 - 1
9-139391603-C-G c.6588G>C p.M2196I Missense 34/34 - 1
9-139391603-C-T c.6588G>A p.M2196I Missense 34/34 - 1
9-139391608-C-T c.6583G>A p.G2195S Missense 34/34 - 3
9-139391609-G-A c.6582C>T p.S2194= Synonymous 34/34 - 1
9-139391609-G-C c.6582C>G p.S2194= Synonymous 34/34 - 1
9-139391609-G-T c.6582C>A p.S2194= Synonymous 34/34 - 1
9-139391608-CG-C c.6582del p.G2195Afs*53 Frameshift 34/34 - 2
9-139391610-G-C c.6581C>G p.S2194C Missense 34/34 - 1
9-139391611-A-T c.6580T>A p.S2194T Missense 34/34 - 1
9-139391613-C-A c.6578G>T p.S2193I Missense 34/34 - 1
9-139391614-T-C c.6577A>G p.S2193G Missense 34/34 - 1
9-139391615-G-A c.6576C>T p.D2192= Synonymous 34/34 - 1
9-139391615-G-C c.6576C>G p.D2192E Missense 34/34 - 1
9-139391616-T-A c.6575A>T p.D2192V Missense 34/34 - 1
9-139391618-C-A c.6573G>T p.L2191= Synonymous 34/34 - 3
9-139391618-C-G c.6573G>C p.L2191= Synonymous 34/34 - 3
9-139391618-C-T c.6573G>A p.L2191= Synonymous 34/34 - 3
9-139391620-G-A c.6571C>T p.L2191= Synonymous 34/34 - 4
9-139391620-G-T c.6571C>A p.L2191M Missense 34/34 - 1
9-139391621-C-A c.6570G>T p.L2190= Synonymous 34/34 - 1
9-139391621-C-G c.6570G>C p.L2190= Synonymous 34/34 - 1
9-139391621-C-T c.6570G>A p.L2190= Synonymous 34/34 - 1
9-139391623-G-A c.6568C>T p.L2190= Synonymous 34/34 - 1
9-139391625-CA-GT c.6565_6566delinsAC p.C2189T Missense 34/34 - 1
9-139391625-C-T c.6566G>A p.C2189Y Missense 34/34 - 5
9-139391628-C-T c.6563G>A p.G2188D Missense 34/34 - 3
9-139391629-C-A c.6562G>T p.G2188C Missense 34/34 - 1
9-139391629-C-T c.6562G>A p.G2188S Missense 34/34 - 2
9-139391627-GC-G c.6563del p.G2188Afs*60 Frameshift 34/34 - 3
9-139391630-C-A c.6561G>T p.K2187N Missense 34/34 - 1
9-139391630-C-G c.6561G>C p.K2187N Missense 34/34 - 1
9-139391632-T-TA c.6558_6559insT p.K2187* Nonsense 34/34 - 1
9-139391634-C-A c.6557G>T p.G2186V Missense 34/34 - 9
9-139391634-C-T c.6557G>A p.G2186D Missense 34/34 - 1
9-139391635-C-T c.6556G>A p.G2186S Missense 34/34 - 2
9-139391636-G-A c.6555C>T p.D2185= Synonymous 34/34 - 47
9-139391636-G-C c.6555C>G p.D2185E Missense 34/34 - 1
9-139391636-G-T c.6555C>A p.D2185E Missense 34/34 - 2
9-139391637-T-C c.6554A>G p.D2185G Missense 34/34 - 1
9-139391639-C-A c.6552G>T p.Q2184H Missense 34/34 - 1
9-139391641-G-A c.6550C>T p.Q2184* Nonsense 34/34 - 1
9-139391642-G-T c.6549C>A p.S2183= Synonymous 34/34 - 1
9-139391640-TG-T c.6550del p.Q2184Rfs*64 Frameshift 34/34 - 1
9-139391643-G-A c.6548C>T p.S2183F Missense 34/34 - 1
9-139391643-G-T c.6548C>A p.S2183Y Missense 34/34 - 2
9-139391646-T-C c.6545A>G p.K2182R Missense 34/34 - 1
9-139391646-T-G c.6545A>C p.K2182T Missense 34/34 - 1
9-139391648-C-A c.6543G>T p.K2181N Missense 34/34 - 1
9-139391648-C-G c.6543G>C p.K2181N Missense 34/34 - 1
9-139391648-C-T c.6543G>A p.K2181= Synonymous 34/34 - 1
9-139391654-C-T c.6537G>A p.R2179= Synonymous 34/34 - 1
9-139391655-C-A c.6536G>T p.R2179L Missense 34/34 - 1
9-139391655-C-G c.6536G>C p.R2179P Missense 34/34 - 1
9-139391655-C-T c.6536G>A p.R2179Q Missense 34/34 - 6
9-139391656-G-A c.6535C>T p.R2179W Missense 34/34 - 5
9-139391658-G-T c.6533C>A p.A2178E Missense 34/34 - 1
9-139391659-C-A c.6532G>T p.A2178S Missense 34/34 - 1
9-139391659-C-T c.6532G>A p.A2178T Missense 34/34 - 1
9-139391663-G-C c.6528C>G p.L2176= Synonymous 34/34 - 1
9-139391665-G-A c.6526C>T p.L2176F Missense 34/34 - 1
9-139391666-G-T c.6525C>A p.D2175E Missense 34/34 - 1
9-139391669-C-G c.6522G>C p.K2174N Missense 34/34 - 2
9-139391670-T-C c.6521A>G p.K2174R Missense 34/34 - 1
9-139391671-T-A c.6520A>T p.K2174* Nonsense 34/34 - 1
9-139391671-T-C c.6520A>G p.K2174E Missense 34/34 - 1
9-139391673-G-A c.6518C>T p.A2173V Missense 34/34 - 1
9-139391674-C-T c.6517G>A p.A2173T Missense 34/34 - 1
9-139391677-C-T c.6514G>A p.E2172K Missense 34/34 - 2
9-139391679-T-A c.6512A>T p.K2171M Missense 34/34 - 1
9-139391680-T-A c.6511A>T p.K2171* Nonsense 34/34 - 2
9-139391681-G-C c.6510C>G p.S2170R Missense 34/34 - 1
9-139391681-G-T c.6510C>A p.S2170R Missense 34/34 - 1
9-139391683-T-G c.6508A>C p.S2170R Missense 34/34 - 1
9-139391682-C-T c.6509G>A p.S2170N Missense 34/34 - 1
9-139391686-C-A c.6505G>T p.G2169* Nonsense 34/34 - 1
9-139391686-C-T c.6505G>A p.G2169R Missense 34/34 - 1
9-139391688-C-T c.6503G>A p.C2168Y Missense 34/34 - 3
9-139391688-C-G c.6503G>C p.C2168S Missense 34/34 - 1
9-139391689-A-G c.6502T>C p.C2168R Missense 34/34 - 1
9-139391689-A-T c.6502T>A p.C2168S Missense 34/34 - 1
9-139391690-G-A c.6501C>T p.A2167= Synonymous 34/34 - 4
9-139391690-G-C c.6501C>G p.A2167= Synonymous 34/34 - 1
9-139391690-G-T c.6501C>A p.A2167= Synonymous 34/34 - 1
9-139391697-C-T c.6494G>A p.G2165D Missense 34/34 - 3
9-139391700-T-C c.6491A>G p.K2164R Missense 34/34 - 1
9-139391698-CT-C c.6492del p.G2165Afs*83 Frameshift 34/34 - 1
9-139391699-TTTGC-T c.6488_6491del p.S2163Kfs*84 Frameshift 34/34 - 1
9-139391704-T-G c.6487A>C p.S2163R Missense 34/34 - 1
9-139391703-C-A c.6488G>T p.S2163I Missense 34/34 - 5
9-139391703-C-G c.6488G>C p.S2163T Missense 34/34 - 1
9-139391703-C-T c.6488G>A p.S2163N Missense 34/34 - 1
9-139391700-TTGC-T c.6488_6490del p.S2163del InFrameDeletion 34/34 - 1
9-139391706-C-A c.6485G>T p.S2162I Missense 34/34 - 1
9-139391707-T-G c.6484A>C p.S2162R Missense 34/34 - 2
9-139391709-G-A c.6482C>T p.P2161L Missense 34/34 - 1
9-139391710-G-A c.6481C>T p.P2161S Missense 34/34 - 6
9-139391711-C-A c.6480G>T p.K2160N Missense 34/34 - 1
9-139391711-C-G c.6480G>C p.K2160N Missense 34/34 - 1
9-139391711-C-T c.6480G>A p.K2160= Synonymous 34/34 - 1
9-139391715-C-T c.6476G>A p.R2159H Missense 34/34 - 6
9-139391716-G-A c.6475C>T p.R2159C Missense 34/34 - 5
9-139391718-A-C c.6473T>G p.V2158G Missense 34/34 - 1
9-139391718-A-G c.6473T>C p.V2158A Missense 34/34 - 1
9-139391719-C-A c.6472G>T p.V2158F Missense 34/34 - 1
9-139391719-C-T c.6472G>A p.V2158I Missense 34/34 - 1
9-139391718-AC-A c.6472del p.V2158Sfs*90 Frameshift 34/34 - 1
9-139391723-C-A c.6468G>T p.K2156N Missense 34/34 - 1
9-139391725-T-A c.6466A>T p.K2156* Nonsense 34/34 - 1
9-139391725-T-C c.6466A>G p.K2156E Missense 34/34 - 1
9-139391727-CC-GT c.6463_6464delinsAC p.G2155T Missense 34/34 - 1
9-139391728-C-A c.6463G>T p.G2155C Missense 34/34 - 2
9-139391729-C-CGTGTG c.6461_6462insCACAC p.Q2154Hfs*96 Frameshift 34/34 - 1
9-139391731-G-A c.6460C>T p.Q2154* Nonsense 34/34 - 1
9-139391732-C-A c.6459G>T p.V2153= Synonymous 34/34 - 4
9-139391732-C-G c.6459G>C p.V2153= Synonymous 34/34 - 4
9-139391732-C-T c.6459G>A p.V2153= Synonymous 34/34 - 5
9-139391734-ACGCCG-A c.6453_6457del p.G2152Afs*114 Frameshift 34/34 - 1
9-139391734-C-T c.6457G>A p.V2153M Missense 34/34 - 3
9-139391735-G-A c.6456C>T p.G2152= Synonymous 34/34 - 1
9-139391736-C-A c.6455G>T p.G2152V Missense 34/34 - 1
9-139391737-C-A c.6454G>T p.G2152C Missense 34/34 - 1
9-139391737-C-G c.6454G>C p.G2152R Missense 34/34 - 4
9-139391737-C-T c.6454G>A p.G2152S Missense 34/34 - 3
9-139391738-G-A c.6453C>T p.P2151= Synonymous 34/34 - 5
9-139391738-G-C c.6453C>G p.P2151= Synonymous 34/34 - 3
9-139391738-G-T c.6453C>A p.P2151= Synonymous 34/34 - 3
9-139391739-G-A c.6452C>T p.P2151L Missense 34/34 - 7
9-139391740-G-A c.6451C>T p.P2151S Missense 34/34 - 2
9-139391742-T-C c.6449A>G p.K2150R Missense 34/34 - 1
9-139391744-G-A c.6447C>T p.L2149= Synonymous 34/34 - 2
9-139391744-G-C c.6447C>G p.L2149= Synonymous 34/34 - 2
9-139391744-G-T c.6447C>A p.L2149= Synonymous 34/34 - 2
9-139391745-A-C c.6446T>G p.L2149R Missense 34/34 - 1
9-139391745-A-T c.6446T>A p.L2149H Missense 34/34 - 1
9-139391748-C-T c.6443G>A p.S2148N Missense 34/34 - 1
9-139391749-T-C c.6442A>G p.S2148G Missense 34/34 - 1
9-139391751-C-A c.6440G>T p.G2147V Missense 34/34 - 1
9-139391751-C-T c.6440G>A p.G2147D Missense 34/34 - 1
9-139391754-A-G c.6437T>C p.L2146P Missense 34/34 - 1
9-139391755-G-T c.6436C>A p.L2146M Missense 34/34 - 1
9-139391758-A-T c.6433T>A p.Y2145N Missense 34/34 - 1
9-139391761-C-G c.6430G>C p.G2144R Missense 34/34 - 1
9-139391761-C-T c.6430G>A p.G2144S Missense 34/34 - 2
9-139391762-G-A c.6429C>T p.N2143= Synonymous 34/34 - 1
9-139391763-T-C c.6428A>G p.N2143S Missense 34/34 - 1
9-139391764-T-G c.6427A>C p.N2143H Missense 34/34 - 2
9-139391766-G-A c.6425C>T p.P2142L Missense 34/34 - 1
9-139391766-G-T c.6425C>A p.P2142H Missense 34/34 - 1
9-139391767-G-A c.6424C>T p.P2142S Missense 34/34 - 1
9-139391768-C-A c.6423G>T p.S2141= Synonymous 34/34 - 3
9-139391768-C-G c.6423G>C p.S2141= Synonymous 34/34 - 3
9-139391768-C-T c.6423G>A p.S2141= Synonymous 34/34 - 4
9-139391769-G-A c.6422C>T p.S2141L Missense 34/34 - 1
9-139391769-G-T c.6422C>A p.S2141* Nonsense 34/34 - 3
9-139391771-G-A c.6420C>T p.C2140= Synonymous 34/34 - 4
9-139391772-CA-GT c.6418_6419delinsAC p.C2140T Missense 34/34 - 1
9-139391772-C-T c.6419G>A p.C2140Y Missense 34/34 - 2
9-139391773-A-G c.6418T>C p.C2140R Missense 34/34 - 1
9-139391775-A-G c.6416T>C p.L2139P Missense 34/34 - 1
9-139391777-C-A c.6414G>T p.P2138= Synonymous 34/34 - 2
9-139391777-C-G c.6414G>C p.P2138= Synonymous 34/34 - 2
9-139391777-C-T c.6414G>A p.P2138= Synonymous 34/34 - 3
9-139391778-G-A c.6413C>T p.P2138L Missense 34/34 - 3
9-139391779-G-T c.6412C>A p.P2138T Missense 34/34 - 1
9-139391777-CG-C c.6413del p.P2138Rfs*110 Frameshift 34/34 - 2
9-139391782-G-A c.6409C>T p.P2137S Missense 34/34 - 1
9-139391783-C-A c.6408G>T p.S2136= Synonymous 34/34 - 1
9-139391783-C-G c.6408G>C p.S2136= Synonymous 34/34 - 1
9-139391783-C-T c.6408G>A p.S2136= Synonymous 34/34 - 1
9-139391783-GC-G c.6408del p.P2138Rfs*110 Frameshift 34/34 - 1
9-139391784-G-A c.6407C>T p.S2136L Missense 34/34 - 3
9-139391785-GA-G c.6406del p.S2136Rfs*112 Frameshift 34/34 - 1
9-139391787-A-T c.6404T>A p.L2135Q Missense 34/34 - 1
9-139391788-AGGGTGGGCGTGCCCCCCAGCGGGGCTCCGTGCAG-A c.6370_6403del p.L2124Cfs*113 Frameshift 34/34 - 1
9-139391787-AG-A c.6403del p.L2135Cfs*113 Frameshift 34/34 - 1
9-139391790-G-A c.6401C>T p.T2134I Missense 34/34 - 1
9-139391791-T-G c.6400A>C p.T2134P Missense 34/34 - 1
9-139391793-G-A c.6398C>T p.P2133L Missense 34/34 - 4
9-139391793-G-T c.6398C>A p.P2133H Missense 34/34 - 1
9-139391794-G-A c.6397C>T p.P2133S Missense 34/34 - 2
9-139391794-G-C c.6397C>G p.P2133A Missense 34/34 - 1
9-139391795-C-A c.6396G>T p.T2132= Synonymous 34/34 - 1
9-139391795-C-G c.6396G>C p.T2132= Synonymous 34/34 - 2
9-139391795-C-T c.6396G>A p.T2132= Synonymous 34/34 - 1
9-139391796-G-A c.6395C>T p.T2132M Missense 34/34 - 3
9-139391797-T-G c.6394A>C p.T2132P Missense 34/34 - 1
9-139391797-T-TG c.6393dup p.T2132Hfs*136 Frameshift 34/34 - 1
9-139391799-C-A c.6392G>T p.G2131V Missense 34/34 - 1
9-139391799-C-T c.6392G>A p.G2131D Missense 34/34 - 2
9-139391800-C-A c.6391G>T p.G2131C Missense 34/34 - 1
9-139391800-C-G c.6391G>C p.G2131R Missense 34/34 - 1
9-139391800-C-T c.6391G>A p.G2131S Missense 34/34 - 2
9-139391801-C-A c.6390G>T p.G2130= Synonymous 34/34 - 1
9-139391801-C-G c.6390G>C p.G2130= Synonymous 34/34 - 1
9-139391801-C-T c.6390G>A p.G2130= Synonymous 34/34 - 1
9-139391802-C-A c.6389G>T p.G2130V Missense 34/34 - 1
9-139391802-C-T c.6389G>A p.G2130E Missense 34/34 - 1
9-139391798-GCC-G c.6391_6392del p.G2131Hfs*136 Frameshift 34/34 - 1
9-139391803-C-T c.6388G>A p.G2130R Missense 34/34 - 2
9-139391798-GC-G c.6392del p.G2131Afs*117 Frameshift 34/34 - 5
9-139391805-A-T c.6386T>A p.L2129Q Missense 34/34 - 1
9-139391807-C-A c.6384G>T p.P2128= Synonymous 34/34 - 2
9-139391807-C-G c.6384G>C p.P2128= Synonymous 34/34 - 2
9-139391807-C-T c.6384G>A p.P2128= Synonymous 34/34 - 3
9-139391808-G-A c.6383C>T p.P2128L Missense 34/34 - 9
9-139391809-G-A c.6382C>T p.P2128S Missense 34/34 - 1
9-139391807-CG-C c.6383del p.P2128Rfs*120 Frameshift 34/34 - 2
9-139391810-G-GGA c.6380_6381insTC p.L2129Rfs*120 Frameshift 34/34 - 1
9-139391812-C-CG c.6378_6379insC p.A2127Rfs*141 Frameshift 34/34 - 1
9-139391812-C-T c.6379G>A p.A2127T Missense 34/34 - 1
9-139391813-CT-C c.6378del p.A2127Pfs*121 Frameshift 34/34 - 1
9-139391814-C-G c.6377G>C p.G2126A Missense 34/34 - 2
9-139391815-C-G c.6376G>C p.G2126R Missense 34/34 - 3
9-139391815-C-T c.6376G>A p.G2126R Missense 34/34 - 5
9-139391816-G-A c.6375C>T p.H2125= Synonymous 34/34 - 2
9-139391816-G-C c.6375C>G p.H2125Q Missense 34/34 - 2
9-139391816-G-T c.6375C>A p.H2125Q Missense 34/34 - 2
9-139391818-G-A c.6373C>T p.H2125Y Missense 34/34 - 1
9-139391821-G-T c.6370C>A p.L2124M Missense 34/34 - 1
9-139391824-G-A c.6367C>T p.Q2123* Nonsense 34/34 - 5
9-139391825-C-A c.6366G>T p.P2122= Synonymous 34/34 - 3
9-139391825-C-G c.6366G>C p.P2122= Synonymous 34/34 - 3
9-139391825-C-T c.6366G>A p.P2122= Synonymous 34/34 - 4
9-139391826-G-A c.6365C>T p.P2122L Missense 34/34 - 6
9-139391828-G-A c.6363C>T p.S2121= Synonymous 34/34 - 1
9-139391828-G-C c.6363C>G p.S2121R Missense 34/34 - 1
9-139391829-C-T c.6362G>A p.S2121N Missense 34/34 - 2
9-139391831-G-A c.6360C>T p.R2120= Synonymous 34/34 - 1
9-139391831-G-C c.6360C>G p.R2120= Synonymous 34/34 - 1
9-139391831-G-T c.6360C>A p.R2120= Synonymous 34/34 - 1
9-139391832-C-G c.6359G>C p.R2120P Missense 34/34 - 1
9-139391832-C-T c.6359G>A p.R2120H Missense 34/34 - 5
9-139391833-G-A c.6358C>T p.R2120C Missense 34/34 - 3
9-139391834-CAC-GAT c.6355_6357delinsATC p.V2119I Missense 34/34 - 1
9-139391836-C-T c.6355G>A p.V2119M Missense 34/34 - 4
9-139391840-G-A c.6351C>T p.N2117= Synonymous 34/34 - 1
9-139391840-G-C c.6351C>G p.N2117K Missense 34/34 - 3
9-139391840-G-T c.6351C>A p.N2117K Missense 34/34 - 8
9-139391841-T-G c.6350A>C p.N2117T Missense 34/34 - 3
9-139391843-G-C c.6348C>G p.Y2116* Nonsense 34/34 - 2
9-139391844-T-C c.6347A>G p.Y2116C Missense 34/34 - 2
9-139391847-T-A c.6344A>T p.E2115V Missense 34/34 - 1
9-139391848-C-A c.6343G>T p.E2115* Nonsense 34/34 - 1
9-139391848-C-G c.6343G>C p.E2115Q Missense 34/34 - 1
9-139391848-C-T c.6343G>A p.E2115K Missense 34/34 - 3
9-139391849-G-A c.6342C>T p.D2114= Synonymous 34/34 - 2
9-139391853-A-C c.6338T>G p.L2113R Missense 34/34 - 2
9-139391853-A-G c.6338T>C p.L2113P Missense 34/34 - 1
9-139391853-A-T c.6338T>A p.L2113Q Missense 34/34 - 1
9-139391855-C-A c.6336G>T p.L2112= Synonymous 34/34 - 1
9-139391855-C-G c.6336G>C p.L2112= Synonymous 34/34 - 1
9-139391855-C-T c.6336G>A p.L2112= Synonymous 34/34 - 1
9-139391857-G-A c.6334C>T p.L2112= Synonymous 34/34 - 1
9-139391860-T-G c.6331A>C p.R2111= Synonymous 34/34 - 1
9-139391863-C-CA c.6327_6328insT p.V2110Cfs*158 Frameshift 34/34 - 1
9-139391863-C-T c.6328G>A p.V2110M Missense 34/34 - 6
9-139391864-G-A c.6327C>T p.I2109= Synonymous 34/34 - 8
9-139391864-G-T c.6327C>A p.I2109= Synonymous 34/34 - 3
9-139391866-T-C c.6325A>G p.I2109V Missense 34/34 - 3
9-139391867-G-A c.6324C>T p.D2108= Synonymous 34/34 - 1
9-139391868-T-A c.6323A>T p.D2108V Missense 34/34 - 1
9-139391868-T-C c.6323A>G p.D2108G Missense 34/34 - 1
9-139391866-TGTC-T c.6322_6324del p.D2108del InFrameDeletion 34/34 - 1
9-139391869-C-T c.6322G>A p.D2108N Missense 34/34 - 7
9-139391870-CG-C c.6321del p.H2107Qfs*4 Frameshift 34/34 - 1
9-139391870-G-A c.6321C>T p.H2107= Synonymous 34/34 - 6
9-139391871-T-C c.6320A>G p.H2107R Missense 34/34 - 2
9-139391872-G-A c.6319C>T p.H2107Y Missense 34/34 - 1
9-139391872-G-C c.6319C>G p.H2107D Missense 34/34 - 1
9-139391873-A-G c.6318T>C p.H2106= Synonymous 34/34 - 1
9-139391874-T-G c.6317A>C p.H2106P Missense 34/34 - 1
9-139391875-G-A c.6316C>T p.H2106Y Missense 34/34 - 1
9-139391877-A-C c.6314T>G p.M2105R Missense 34/34 - 1
9-139391877-A-T c.6314T>A p.M2105K Missense 34/34 - 1
9-139391878-T-C c.6313A>G p.M2105V Missense 34/34 - 1
9-139391879-G-A c.6312C>T p.R2104= Synonymous 34/34 - 1
9-139391880-C-T c.6311G>A p.R2104H Missense 34/34 - 5
9-139391881-G-A c.6310C>T p.R2104C Missense 34/34 - 3
9-139391880-CGCTCCTGTGCGATGTCGCGCGGCAG-C c.6286_6310del p.L2096Afs*7 Frameshift 34/34 - 1
9-139391884-C-A c.6307G>T p.E2103* Nonsense 34/34 - 1
9-139391884-C-T c.6307G>A p.E2103K Missense 34/34 - 2
9-139391887-G-A c.6304C>T p.Q2102* Nonsense 34/34 - 1
9-139391888-TGC-ACA c.6301_6303delinsTGT p.A2101C Missense 34/34 - 1
9-139391888-TGC-T c.6301_6302del p.A2101Tfs*166 Frameshift 34/34 - 1
9-139391890-C-T c.6301G>A p.A2101T Missense 34/34 - 8
9-139391891-G-A c.6300C>T p.I2100= Synonymous 34/34 - 3
9-139391891-G-T c.6300C>A p.I2100= Synonymous 34/34 - 1
9-139391892-A-C c.6299T>G p.I2100S Missense 34/34 - 1
9-139391892-A-G c.6299T>C p.I2100T Missense 34/34 - 1
9-139391893-T-C c.6298A>G p.I2100V Missense 34/34 - 1
9-139391895-T-C c.6296A>G p.D2099G Missense 34/34 - 1
9-139391896-C-G c.6295G>C p.D2099H Missense 34/34 - 5
9-139391896-C-T c.6295G>A p.D2099N Missense 34/34 - 6
9-139391897-G-C c.6294C>G p.R2098= Synonymous 34/34 - 1
9-139391898-C-T c.6293G>A p.R2098H Missense 34/34 - 10
9-139391899-G-A c.6292C>T p.R2098C Missense 34/34 - 1
9-139391899-G-GC c.6291dup p.R2098Afs*170 Frameshift 34/34 - 1
9-139391900-C-A c.6291G>T p.P2097= Synonymous 34/34 - 1
9-139391900-C-T c.6291G>A p.P2097= Synonymous 34/34 - 4
9-139391901-G-A c.6290C>T p.P2097L Missense 34/34 - 3
9-139391901-G-T c.6290C>A p.P2097Q Missense 34/34 - 1
9-139391904-A-T c.6287T>A p.L2096Q Missense 34/34 - 1
9-139391905-G-T c.6286C>A p.L2096M Missense 34/34 - 1
9-139391907-C-A c.6284G>T p.R2095L Missense 34/34 - 1
9-139391907-C-T c.6284G>A p.R2095H Missense 34/34 - 11
9-139391908-G-A c.6283C>T p.R2095C Missense 34/34 - 8
9-139391908-G-C c.6283C>G p.R2095G Missense 34/34 - 1
9-139391912-CAT-C c.6277_6278del p.M2093Gfs*174 Frameshift 34/34 - 2
9-139391915-A-G c.6276T>C p.H2092= Synonymous 34/34 - 1
9-139391917-G-A c.6274C>T p.H2092Y Missense 34/34 - 2
9-139391918-A-C c.6273T>G p.D2091E Missense 34/34 - 1
9-139391918-A-G c.6273T>C p.D2091= Synonymous 34/34 - 2
9-139391918-A-T c.6273T>A p.D2091E Missense 34/34 - 1
9-139391921-C-A c.6270G>T p.T2090= Synonymous 34/34 - 1
9-139391921-C-G c.6270G>C p.T2090= Synonymous 34/34 - 2
9-139391921-C-T c.6270G>A p.T2090= Synonymous 34/34 - 2
9-139391922-G-A c.6269C>T p.T2090M Missense 34/34 - 3
9-139391921-CGT-C c.6268_6269del p.T2090Gfs*177 Frameshift 34/34 - 1
9-139391923-T-A c.6268A>T p.T2090S Missense 34/34 - 1
9-139391923-T-TA c.6267_6268insT p.T2090Yfs*178 Frameshift 34/34 - 1
9-139391925-A-G c.6266T>C p.I2089T Missense 34/34 - 2
9-139391926-T-C c.6265A>G p.I2089V Missense 34/34 - 1
9-139391927-G-C c.6264C>G p.D2088E Missense 34/34 - 1
9-139391927-G-T c.6264C>A p.D2088E Missense 34/34 - 1
9-139391929-C-A c.6262G>T p.D2088Y Missense 34/34 - 2
9-139391931-C-A c.6260G>T p.R2087L Missense 34/34 - 3
9-139391931-CG-TT c.6259_6260delinsAA p.R2087K Missense 34/34 - 1
9-139391931-C-T c.6260G>A p.R2087Q Missense 34/34 - 4
9-139391932-G-A c.6259C>T p.R2087W Missense 34/34 - 5
9-139391934-T-A c.6257A>T p.N2086I Missense 34/34 - 1
9-139391935-T-A c.6256A>T p.N2086Y Missense 34/34 - 1
9-139391937-G-A c.6254C>T p.A2085V Missense 34/34 - 2
9-139391937-G-C c.6254C>G p.A2085G Missense 34/34 - 1
9-139391937-G-GT c.6253_6254insA p.A2085Dfs*183 Frameshift 34/34 - 1
9-139391934-TTGGCAAAG-T c.6249_6256del p.H2083Qfs*182 Frameshift 34/34 - 3
9-139391938-C-A c.6253G>T p.A2085S Missense 34/34 - 1
9-139391938-C-G c.6253G>C p.A2085P Missense 34/34 - 1
9-139391938-C-T c.6253G>A p.A2085T Missense 34/34 - 1
9-139391938-CA-C c.6252del p.F2084Lfs*27 Frameshift 34/34 - 1
9-139391943-T-A c.6248A>T p.H2083L Missense 34/34 - 1
9-139391945-G-C c.6246C>G p.D2082E Missense 34/34 - 2
9-139391945-G-T c.6246C>A p.D2082E Missense 34/34 - 2
9-139391946-T-A c.6245A>T p.D2082V Missense 34/34 - 1
9-139391947-C-A c.6244G>T p.D2082Y Missense 34/34 - 1
9-139391948-C-A c.6243G>T p.L2081= Synonymous 34/34 - 2
9-139391948-C-G c.6243G>C p.L2081= Synonymous 34/34 - 2
9-139391948-C-T c.6243G>A p.L2081= Synonymous 34/34 - 3
9-139391950-G-A c.6241C>T p.L2081= Synonymous 34/34 - 3
9-139391949-A-G c.6242T>C p.L2081P Missense 34/34 - 1
9-139391949-A-T c.6242T>A p.L2081Q Missense 34/34 - 1
9-139391950-G-C c.6241C>G p.L2081V Missense 34/34 - 1
9-139391952-A-C c.6239T>G p.L2080R Missense 34/34 - 1
9-139391952-A-G c.6239T>C p.L2080P Missense 34/34 - 1
9-139391947-CCAG-C c.6241_6243del p.L2081del InFrameDeletion 34/34 - 1
9-139391954-CAC-GAT c.6235_6237delinsATC p.V2079I Missense 34/34 - 1
9-139391955-A-C c.6236T>G p.V2079G Missense 34/34 - 1
9-139391956-C-G c.6235G>C p.V2079L Missense 34/34 - 1
9-139391956-C-T c.6235G>A p.V2079M Missense 34/34 - 2
9-139391957-C-T c.6234G>A p.K2078= Synonymous 34/34 - 1
9-139391958-T-A c.6233A>T p.K2078M Missense 34/34 - 1
9-139391959-T-A c.6232A>T p.K2078* Nonsense 34/34 - 2
9-139391959-T-G c.6232A>C p.K2078Q Missense 34/34 - 1
9-139391961-G-A c.6230C>T p.A2077V Missense 34/34 - 3
9-139391961-G-T c.6230C>A p.A2077D Missense 34/34 - 1
9-139391962-C-T c.6229G>A p.A2077T Missense 34/34 - 9
9-139391963-G-A c.6228C>T p.T2076= Synonymous 34/34 - 1
9-139391963-G-C c.6228C>G p.T2076= Synonymous 34/34 - 1
9-139391963-G-T c.6228C>A p.T2076= Synonymous 34/34 - 1
9-139391964-G-A c.6227C>T p.T2076I Missense 34/34 - 2
9-139391965-T-TC c.6225dup p.T2076Dfs*192 Frameshift 34/34 - 1
9-139391966-C-T c.6225G>A p.E2075= Synonymous 34/34 - 1
9-139391966-C-CT c.6224dup p.T2076Dfs*192 Frameshift 34/34 - 1
9-139391968-C-A c.6223G>T p.E2075* Nonsense 34/34 - 4
9-139391968-C-T c.6223G>A p.E2075K Missense 34/34 - 3
9-139391970-T-C c.6221A>G p.Y2074C Missense 34/34 - 1
9-139391971-A-C c.6220T>G p.Y2074D Missense 34/34 - 1
9-139391971-A-T c.6220T>A p.Y2074N Missense 34/34 - 1
9-139391974-T-G c.6217A>C p.S2073R Missense 34/34 - 1
9-139391975-GC-ACAGT c.6215_6216delinsACTGT p.G2072delinsDC MultiAAMissense 34/34 - 1
9-139391977-C-A c.6214G>T p.G2072C Missense 34/34 - 1
9-139391977-C-T c.6214G>A p.G2072S Missense 34/34 - 1
9-139391975-GC-G c.6215del p.G2072Afs*39 Frameshift 34/34 - 2
9-139391978-C-A c.6213G>T p.E2071D Missense 34/34 - 1
9-139391978-C-G c.6213G>C p.E2071D Missense 34/34 - 1
9-139391980-C-A c.6211G>T p.E2071* Nonsense 34/34 - 1
9-139391980-C-T c.6211G>A p.E2071K Missense 34/34 - 5
9-139391982-C-A c.6209G>T p.R2070L Missense 34/34 - 1
9-139391982-C-T c.6209G>A p.R2070Q Missense 34/34 - 5
9-139391981-C-A c.6210G>T p.R2070= Synonymous 34/34 - 1
9-139391981-C-G c.6210G>C p.R2070= Synonymous 34/34 - 1
9-139391981-C-T c.6210G>A p.R2070= Synonymous 34/34 - 1
9-139391983-G-A c.6208C>T p.R2070W Missense 34/34 - 4
9-139391983-G-T c.6208C>A p.R2070= Synonymous 34/34 - 1
9-139391986-C-T c.6205G>A p.A2069T Missense 34/34 - 3
9-139391989-C-G c.6202G>C p.A2068P Missense 34/34 - 1
9-139391989-C-T c.6202G>A p.A2068T Missense 34/34 - 1
9-139391991-A-C c.6200T>G p.L2067R Missense 34/34 - 1
9-139391991-A-G c.6200T>C p.L2067P Missense 34/34 - 1
9-139391992-G-C c.6199C>G p.L2067V Missense 34/34 - 1
9-139391992-G-T c.6199C>A p.L2067M Missense 34/34 - 3
9-139391992-GA-G c.6198del p.L2067Wfs*44 Frameshift 34/34 - 1
9-139391993-A-C c.6198T>G p.F2066L Missense 34/34 - 1
9-139391993-A-T c.6198T>A p.F2066L Missense 34/34 - 1
9-139391995-A-C c.6196T>G p.F2066V Missense 34/34 - 1
9-139391995-A-G c.6196T>C p.F2066L Missense 34/34 - 1
9-139391997-A-C c.6194T>G p.L2065R Missense 34/34 - 1
9-139391997-A-T c.6194T>A p.L2065Q Missense 34/34 - 1
9-139391997-CAG-C c.6193_6194del p.L2065Vfs*202 Frameshift 34/34 - 3
9-139391998-G-C c.6193C>G p.L2065V Missense 34/34 - 3
9-139391999-G-A c.6192C>T p.P2064= Synonymous 34/34 - 2
9-139392000-G-A c.6191C>T p.P2064L Missense 34/34 - 13
9-139391997-AG-A c.6193del p.L2065Cfs*46 Frameshift 34/34 - 1
9-139392001-G-C c.6190C>G p.P2064A Missense 34/34 - 1
9-139392002-T-G c.6189A>C p.T2063= Synonymous 34/34 - 1
9-139392003-G-A c.6188C>T p.T2063I Missense 34/34 - 1
9-139392004-T-C c.6187A>G p.T2063A Missense 34/34 - 1
9-139392004-T-G c.6187A>C p.T2063P Missense 34/34 - 1
9-139392005-C-A c.6186G>T p.E2062D Missense 34/34 - 2
9-139392005-C-G c.6186G>C p.E2062D Missense 34/34 - 2
9-139392006-T-C c.6185A>G p.E2062G Missense 34/34 - 1
9-139392006-T-G c.6185A>C p.E2062A Missense 34/34 - 1
9-139392007-C-A c.6184G>T p.E2062* Nonsense 34/34 - 1
9-139392007-C-T c.6184G>A p.E2062K Missense 34/34 - 6
9-139392006-TC-T c.6184del p.E2062Rfs*49 Frameshift 34/34 - 1
9-139392007-CCT-C c.6182_6183del p.E2061Gfs*206 SpliceAcceptorDeletion 34/34 - 1
9-139392009-T-C c.6182A>G p.E2061G Missense 34/34 - 2
9-139392009-T-G c.6182A>C p.E2061A Missense 34/34 - 1
9-139392010-C-G c.6181G>C p.E2061Q Missense 34/34 - 1
9-139392010-C-T c.6181G>A p.E2061K Missense 34/34 - 1
9-139393067-C-T c.6180+284G>A - IntronicSNV - 33/33 2
9-139393083-C-T c.6180+268G>A - IntronicSNV - 33/33 1
9-139393162-G-A c.6180+189C>T - IntronicSNV - 33/33 6
9-139393175-A-G c.6180+176T>C - IntronicSNV - 33/33 5
9-139393307-A-G c.6180+44T>C - IntronicSNV - 33/33 7
9-139393342-C-T c.6180+9G>A - IntronicSNV - 33/33 1
9-139393345-G-C c.6180+6C>G - IntronicSNV - 33/33 1
9-139393350-ACCCTGTTG-A c.6174_6180+1del - SpliceDonorDeletion 33/34 33/33 1
9-139393350-C-A c.6180+1G>T - IntronicSNV - 33/33 1
9-139393350-C-G c.6180+1G>C - IntronicSNV - 33/33 1
9-139393350-C-T c.6180+1G>A - IntronicSNV - 33/33 1
9-139393351-C-T c.6180G>A p.R2060= Synonymous 33/34 - 1
9-139393352-C-T c.6179G>A p.R2060K Missense 33/34 - 1
9-139393355-T-C c.6176A>G p.N2059S Missense 33/34 - 1
9-139393356-T-A c.6175A>T p.N2059Y Missense 33/34 - 1
9-139393352-CTGT-C c.6176_6178del p.N2059del InFrameDeletion 33/34 - 3
9-139393357-G-C c.6174C>G p.N2058K Missense 33/34 - 1
9-139393358-T-C c.6173A>G p.N2058S Missense 33/34 - 1
9-139393359-T-C c.6172A>G p.N2058D Missense 33/34 - 2
9-139393360-C-A c.6171G>T p.Q2057H Missense 33/34 - 1
9-139393360-C-T c.6171G>A p.Q2057= Synonymous 33/34 - 1
9-139393362-G-A c.6169C>T p.Q2057* Nonsense 33/34 - 3
9-139393363-C-T c.6168G>A p.M2056I Missense 33/34 - 1
9-139393363-CAT-C c.6166_6167del p.M2056Afs*211 Frameshift 33/34 - 4
9-139393368-C-G c.6163G>C p.D2055H Missense 33/34 - 1
9-139393368-C-T c.6163G>A p.D2055N Missense 33/34 - 1
9-139393369-TTT-CTCAGG c.6160_6162delinsCCTGAG p.K2054delinsPE MultiAAMissense 33/34 - 1
9-139393368-CTT-C c.6161_6162del p.K2054Rfs*213 Frameshift 33/34 - 3
9-139393368-CT-C c.6162del p.D2055Ifs*56 Frameshift 33/34 - 1
9-139393372-G-C c.6159C>G p.N2053K Missense 33/34 - 1
9-139393372-G-T c.6159C>A p.N2053K Missense 33/34 - 2
9-139393372-GT-G c.6158del p.N2053Tfs*58 Frameshift 33/34 - 1
9-139393376-G-T c.6155C>A p.A2052D Missense 33/34 - 1
9-139393380-C-A c.6151G>T p.G2051W Missense 33/34 - 4
9-139393380-C-G c.6151G>C p.G2051R Missense 33/34 - 2
9-139393380-C-T c.6151G>A p.G2051R Missense 33/34 - 2
9-139393382-T-C c.6149A>G p.N2050S Missense 33/34 - 2
9-139393384-C-A c.6147G>T p.K2049N Missense 33/34 - 2
9-139393384-C-G c.6147G>C p.K2049N Missense 33/34 - 5
9-139393385-T-C c.6146A>G p.K2049R Missense 33/34 - 1
9-139393387-CA-AT c.6143_6144delinsAT p.L2048H Missense 33/34 - 1
9-139393388-A-G c.6143T>C p.L2048P Missense 33/34 - 1
9-139393388-A-T c.6143T>A p.L2048Q Missense 33/34 - 1
9-139393390-G-A c.6141C>T p.L2047= Synonymous 33/34 - 1
9-139393390-G-C c.6141C>G p.L2047= Synonymous 33/34 - 1
9-139393390-G-T c.6141C>A p.L2047= Synonymous 33/34 - 1
9-139393392-G-A c.6139C>T p.L2047F Missense 33/34 - 5
9-139393398-C-T c.6133G>A p.V2045I Missense 33/34 - 8
9-139393400-G-T c.6131C>A p.A2044E Missense 33/34 - 1
9-139393401-C-T c.6130G>A p.A2044T Missense 33/34 - 5
9-139393403-G-A c.6128C>T p.A2043V Missense 33/34 - 3
9-139393404-C-T c.6127G>A p.A2043T Missense 33/34 - 3
9-139393407-C-T c.6124G>A p.D2042N Missense 33/34 - 2
9-139393406-TC-T c.6124del p.D2042Mfs*7 Frameshift 33/34 - 1
9-139393409-A-G c.6122T>C p.V2041A Missense 33/34 - 1
9-139393410-C-A c.6121G>T p.V2041L Missense 33/34 - 1
9-139393410-C-G c.6121G>C p.V2041L Missense 33/34 - 1
9-139393412-T-C c.6119A>G p.N2040S Missense 33/34 - 2
9-139393414-G-A c.6117C>T p.N2039= Synonymous 33/34 - 1
9-139393419-C-A c.6112G>T p.V2038L Missense 33/34 - 9
9-139393419-C-G c.6112G>C p.V2038L Missense 33/34 - 6
9-139393419-C-T c.6112G>A p.V2038M Missense 33/34 - 2
9-139393419-C-CGCA c.6111_6112insTGC p.A2037_V2038insC InFrameInsertion 33/34 - 1
9-139393422-C-A c.6109G>T p.A2037S Missense 33/34 - 4
9-139393422-C-CAAGTCCGCCCTGCACT c.6108_6109insAGTGCAGGGCGGACTT p.A2037Sfs*22 Frameshift 33/34 - 1
9-139393422-C-G c.6109G>C p.A2037P Missense 33/34 - 2
9-139393422-C-T c.6109G>A p.A2037T Missense 33/34 - 3
9-139393423-G-A c.6108C>T p.A2036= Synonymous 33/34 - 2
9-139393423-G-C c.6108C>G p.A2036= Synonymous 33/34 - 1
9-139393423-G-T c.6108C>A p.A2036= Synonymous 33/34 - 1
9-139393424-G-A c.6107C>T p.A2036V Missense 33/34 - 14
9-139393424-G-GGC c.6106_6107insGC p.A2036Gfs*4 Frameshift 33/34 - 1
9-139393425-C-T c.6106G>A p.A2036T Missense 33/34 - 4
9-139393426-G-A c.6105C>T p.A2035= Synonymous 33/34 - 1
9-139393426-G-GCCGCCGTGAACAATGTGGAT c.6104_6105insATCCACATTGTTCACGGCGG p.A2036Sfs*10 Frameshift 33/34 - 1
9-139393425-CG-C c.6105del p.A2036Pfs*3 Frameshift 33/34 - 1
9-139393427-G-A c.6104C>T p.A2035V Missense 33/34 - 3
9-139393427-G-T c.6104C>A p.A2035D Missense 33/34 - 1
9-139393428-C-T c.6103G>A p.A2035T Missense 33/34 - 1
9-139393431-A-G c.6100T>C p.W2034R Missense 33/34 - 1
9-139393431-A-T c.6100T>A p.W2034R Missense 33/34 - 2
9-139393434-G-A c.6097C>T p.H2033Y Missense 33/34 - 1
9-139393437-G-T c.6094C>A p.L2032M Missense 33/34 - 1
9-139393438-G-A c.6093C>T p.A2031= Synonymous 33/34 - 1
9-139393438-G-C c.6093C>G p.A2031= Synonymous 33/34 - 1
9-139393438-G-T c.6093C>A p.A2031= Synonymous 33/34 - 1
9-139393439-G-A c.6092C>T p.A2031V Missense 33/34 - 1
9-139393440-C-T c.6091G>A p.A2031T Missense 33/34 - 2
9-139393441-G-A c.6090C>T p.S2030= Synonymous 33/34 - 2
9-139393441-G-C c.6090C>G p.S2030= Synonymous 33/34 - 1
9-139393441-G-T c.6090C>A p.S2030= Synonymous 33/34 - 1
9-139393442-G-A c.6089C>T p.S2030F Missense 33/34 - 3
9-139393443-A-G c.6088T>C p.S2030P Missense 33/34 - 7
9-139393446-T-A c.6085A>T p.K2029* Nonsense 33/34 - 1
9-139393448-C-A c.6083G>T p.G2028V Missense 33/34 - 2
9-139393448-C-T c.6083G>A p.G2028D Missense 33/34 - 2
9-139393507-C-T c.6082+57G>A - IntronicSNV - 32/33 1
9-139393524-C-T c.6082+40G>A - IntronicSNV - 32/33 1
9-139393546-G-A c.6082+18C>T - IntronicSNV - 32/33 1
9-139393553-C-G c.6082+11G>C - IntronicSNV - 32/33 1
9-139393553-C-T c.6082+11G>A - IntronicSNV - 32/33 1
9-139393554-G-A c.6082+10C>T - IntronicSNV - 32/33 1
9-139393563-C-T c.6082+1G>A - IntronicSNV - 32/33 1
9-139393564-C-T c.6082G>A p.G2028S Missense 32/34 - 1
9-139393566-A-C c.6080T>G p.L2027R Missense 32/34 - 1
9-139393570-C-A c.6076G>T p.D2026Y Missense 32/34 - 1
9-139393571-A-G c.6075T>C p.D2025= Synonymous 32/34 - 2
9-139393572-T-A c.6074A>T p.D2025V Missense 32/34 - 1
9-139393572-T-C c.6074A>G p.D2025G Missense 32/34 - 2
9-139393576-C-G c.6070G>C p.V2024L Missense 32/34 - 1
9-139393576-C-T c.6070G>A p.V2024I Missense 32/34 - 6
9-139393577-G-A c.6069C>T p.A2023= Synonymous 32/34 - 1
9-139393578-G-A c.6068C>T p.A2023V Missense 32/34 - 3
9-139393579-C-A c.6067G>T p.A2023S Missense 32/34 - 3
9-139393579-C-T c.6067G>A p.A2023T Missense 32/34 - 14
9-139393580-G-A c.6066C>T p.N2022= Synonymous 32/34 - 3
9-139393580-G-C c.6066C>G p.N2022K Missense 32/34 - 1
9-139393580-G-T c.6066C>A p.N2022K Missense 32/34 - 1
9-139393582-T-A c.6064A>T p.N2022Y Missense 32/34 - 2
9-139393585-C-A c.6061G>T p.V2021F Missense 32/34 - 1
9-139393585-C-T c.6061G>A p.V2021I Missense 32/34 - 5
9-139393586-G-A c.6060C>T p.D2020= Synonymous 32/34 - 7
9-139393588-C-G c.6058G>C p.D2020H Missense 32/34 - 7
9-139393588-C-T c.6058G>A p.D2020N Missense 32/34 - 1
9-139393589-G-A c.6057C>T p.A2019= Synonymous 32/34 - 4
9-139393589-G-C c.6057C>G p.A2019= Synonymous 32/34 - 3
9-139393589-G-T c.6057C>A p.A2019= Synonymous 32/34 - 3
9-139393591-C-G c.6055G>C p.A2019P Missense 32/34 - 1
9-139393591-C-T c.6055G>A p.A2019T Missense 32/34 - 5
9-139393592-G-T c.6054C>A p.H2018Q Missense 32/34 - 2
9-139393592-G-GT c.6053dup p.H2018Qfs*9 Frameshift 32/34 - 2
9-139393593-TG-CA c.6052_6053inv p.H2018C Missense 32/34 - 1
9-139393593-T-TA c.6052_6053insT p.H2018Lfs*9 Frameshift 32/34 - 1
9-139393594-G-A c.6052C>T p.H2018Y Missense 32/34 - 1
9-139393596-G-C c.6050C>G p.S2017* Nonsense 32/34 - 3
9-139393596-G-T c.6050C>A p.S2017* Nonsense 32/34 - 3
9-139393595-TGA-T c.6049_6050del p.S2017Tfs*9 Frameshift 32/34 - 5
9-139393600-T-C c.6046A>G p.N2016D Missense 32/34 - 1
9-139393604-G-A c.6042C>T p.L2014= Synonymous 32/34 - 1
9-139393605-A-G c.6041T>C p.L2014P Missense 32/34 - 1
9-139393607-G-C c.6039C>G p.D2013E Missense 32/34 - 1
9-139393607-G-T c.6039C>A p.D2013E Missense 32/34 - 1
9-139393609-C-T c.6037G>A p.D2013N Missense 32/34 - 2
9-139393610-C-T c.6036G>A p.E2012= Synonymous 32/34 - 2
9-139393611-T-C c.6035A>G p.E2012G Missense 32/34 - 1
9-139393612-C-A c.6034G>T p.E2012* Nonsense 32/34 - 2
9-139393614-A-C c.6032T>G p.L2011R Missense 32/34 - 1
9-139393615-G-T c.6031C>A p.L2011M Missense 32/34 - 1
9-139393616-C-A c.6030G>T p.M2010I Missense 32/34 - 2
9-139393620-C-T c.6026G>A p.G2009D Missense 32/34 - 2
9-139393621-C-T c.6025G>A p.G2009S Missense 32/34 - 1
9-139393624-C-A c.6022G>T p.E2008* Nonsense 32/34 - 2
9-139393624-C-T c.6022G>A p.E2008K Missense 32/34 - 1
9-139393625-C-A c.6021G>T p.V2007= Synonymous 32/34 - 1
9-139393625-C-G c.6021G>C p.V2007= Synonymous 32/34 - 1
9-139393625-C-T c.6021G>A p.V2007= Synonymous 32/34 - 1
9-139393627-C-T c.6019G>A p.V2007M Missense 32/34 - 6
9-139393628-G-A c.6018C>T p.A2006= Synonymous 32/34 - 6
9-139393628-G-C c.6018C>G p.A2006= Synonymous 32/34 - 3
9-139393628-G-T c.6018C>A p.A2006= Synonymous 32/34 - 3
9-139393629-G-A c.6017C>T p.A2006V Missense 32/34 - 2
9-139393630-C-T c.6016G>A p.A2006T Missense 32/34 - 1
9-139393630-CCAGG-C c.6012_6015del p.L2005Pfs*19 Frameshift 32/34 - 1
9-139393634-G-A c.6012C>T p.R2004= Synonymous 32/34 - 2
9-139393635-C-A c.6011G>T p.R2004L Missense 32/34 - 2
9-139393635-C-T c.6011G>A p.R2004H Missense 32/34 - 5
9-139393636-G-A c.6010C>T p.R2004C Missense 32/34 - 6
9-139393638-G-A c.6008C>T p.A2003V Missense 32/34 - 2
9-139393638-G-T c.6008C>A p.A2003D Missense 32/34 - 1
9-139393641-G-T c.6005C>A p.A2002D Missense 32/34 - 2
9-139393642-C-G c.6004G>C p.A2002P Missense 32/34 - 1
9-139393642-C-T c.6004G>A p.A2002T Missense 32/34 - 1
9-139393646-G-A c.6000C>T p.I2000= Synonymous 32/34 - 2
9-139393647-A-C c.5999T>G p.I2000S Missense 32/34 - 1
9-139393649-C-A c.5997G>T p.L1999= Synonymous 32/34 - 2
9-139393650-A-T c.5996T>A p.L1999Q Missense 32/34 - 1
9-139393653-G-A c.5993C>T p.P1998L Missense 32/34 - 2
9-139393653-G-T c.5993C>A p.P1998Q Missense 32/34 - 1
9-139393654-G-T c.5992C>A p.P1998T Missense 32/34 - 1
9-139393655-C-A c.5991G>T p.T1997= Synonymous 32/34 - 6
9-139393655-C-G c.5991G>C p.T1997= Synonymous 32/34 - 6
9-139393655-C-T c.5991G>A p.T1997= Synonymous 32/34 - 9
9-139393656-G-A c.5990C>T p.T1997M Missense 32/34 - 18
9-139393658-C-A c.5988G>T p.T1996= Synonymous 32/34 - 1
9-139393658-C-G c.5988G>C p.T1996= Synonymous 32/34 - 1
9-139393658-C-T c.5988G>A p.T1996= Synonymous 32/34 - 7
9-139393659-G-A c.5987C>T p.T1996M Missense 32/34 - 13
9-139393659-G-C c.5987C>G p.T1996R Missense 32/34 - 1
9-139393662-C-A c.5984G>T p.G1995V Missense 32/34 - 5
9-139393668-T-C c.5978A>G p.H1993R Missense 32/34 - 1
9-139393669-G-A c.5977C>T p.H1993Y Missense 32/34 - 5
9-139393670-C-T c.5976G>A p.M1992I Missense 32/34 - 1
9-139393671-A-G c.5975T>C p.M1992T Missense 32/34 - 1
9-139393673-G-A c.5973C>T p.R1991= Synonymous 32/34 - 2
9-139393673-G-C c.5973C>G p.R1991= Synonymous 32/34 - 1
9-139393673-G-T c.5973C>A p.R1991= Synonymous 32/34 - 1
9-139393674-C-A c.5972G>T p.R1991L Missense 32/34 - 1
9-139393674-C-T c.5972G>A p.R1991H Missense 32/34 - 8
9-139393675-G-A c.5971C>T p.R1991C Missense 32/34 - 2
9-139393677-G-A c.5969C>T p.A1990V Missense 32/34 - 2
9-139393680-T-G c.5966A>C p.D1989A Missense 32/34 - 1
9-139393681-C-T c.5965G>A p.D1989N Missense 32/34 - 8
9-139393683-A-G c.5963T>C p.L1988P Missense 32/34 - 1
9-139393689-G-A c.5957C>T p.T1986I Missense 32/34 - 1
9-139393690-T-C c.5956A>G p.T1986A Missense 32/34 - 1
9-139393693-C-G c.5953G>C p.A1985P Missense 32/34 - 1
9-139393695-CG-GC c.5950_5951delinsGC p.R1984A Missense 32/34 - 2
9-139393695-C-T c.5951G>A p.R1984Q Missense 32/34 - 3
9-139393696-G-A c.5950C>T p.R1984* Nonsense 32/34 - 12
9-139393695-CG-C c.5950del p.R1984Efs*16 Frameshift 32/34 - 1
9-139393698-T-C c.5948A>G p.N1983S Missense 32/34 - 17
9-139393698-T-G c.5948A>C p.N1983T Missense 32/34 - 1
9-139393700-CC-AT c.5945_5946delinsAT p.R1982H Missense 32/34 - 1
9-139393701-C-T c.5945G>A p.R1982Q Missense 32/34 - 3
9-139393702-G-A c.5944C>T p.R1982W Missense 32/34 - 3
9-139393706-C-T c.5940G>A p.L1980= Synonymous 32/34 - 1
9-139393707-A-G c.5939T>C p.L1980P Missense 32/34 - 3
9-139393708-G-T c.5938C>A p.L1980M Missense 32/34 - 1
9-139394128-G-C c.5935-417C>G - IntronicSNV - 31/33 1
9-139394345-G-A c.5935-634C>T - IntronicSNV - 31/33 2
9-139394345-G-C c.5935-634C>G - IntronicSNV - 31/33 2
9-139394573-T-A c.5934+431A>T - IntronicSNV - 31/33 1
9-139394573-T-G c.5934+431A>C - IntronicSNV - 31/33 1
9-139394876-G-A c.5934+128C>T - IntronicSNV - 31/33 1
9-139394935-TG-T c.5934+68del - IntronicDeletion - 31/33 1
9-139394995-A-C c.5934+9T>G - IntronicSNV - 31/33 1
9-139395002-A-G c.5934+2T>C - IntronicSNV - 31/33 1
9-139395003-C-G c.5934+1G>C - IntronicSNV - 31/33 2
9-139395006-G-A c.5932C>T p.Q1978* Nonsense 31/34 - 6
9-139395005-T-TG c.5932dup p.Q1978Pfs*17 SpliceDonorInsertion 31/34 - 3
9-139395007-G-GA c.5930dup p.Q1978Pfs*17 Frameshift 31/34 - 1
9-139395012-C-T c.5926G>A p.V1976I Missense 31/34 - 1
9-139395015-C-T c.5923G>A p.G1975S Missense 31/34 - 3
9-139395018-G-A c.5920C>T p.Q1974* Nonsense 31/34 - 7
9-139395020-G-A c.5918C>T p.A1973V Missense 31/34 - 1
9-139395021-C-G c.5917G>C p.A1973P Missense 31/34 - 1
9-139395021-C-T c.5917G>A p.A1973T Missense 31/34 - 8
9-139395022-G-A c.5916C>T p.D1972= Synonymous 31/34 - 1
9-139395024-C-T c.5914G>A p.D1972N Missense 31/34 - 1
9-139395026-G-A c.5912C>T p.A1971V Missense 31/34 - 4
9-139395026-G-T c.5912C>A p.A1971D Missense 31/34 - 1
9-139395027-C-T c.5911G>A p.A1971T Missense 31/34 - 2
9-139395033-C-T c.5905G>A p.V1969M Missense 31/34 - 1
9-139395035-G-A c.5903C>T p.A1968V Missense 31/34 - 1
9-139395035-G-C c.5903C>G p.A1968G Missense 31/34 - 1
9-139395035-G-T c.5903C>A p.A1968D Missense 31/34 - 1
9-139395036-C-G c.5902G>C p.A1968P Missense 31/34 - 1
9-139395036-C-T c.5902G>A p.A1968T Missense 31/34 - 1
9-139395035-GC-G c.5902del p.A1968Lfs*13 Frameshift 31/34 - 1
9-139395037-C-A c.5901G>T p.A1967= Synonymous 31/34 - 2
9-139395037-C-G c.5901G>C p.A1967= Synonymous 31/34 - 2
9-139395037-C-T c.5901G>A p.A1967= Synonymous 31/34 - 2
9-139395038-G-A c.5900C>T p.A1967V Missense 31/34 - 3
9-139395038-G-T c.5900C>A p.A1967E Missense 31/34 - 1
9-139395039-C-T c.5899G>A p.A1967T Missense 31/34 - 1
9-139395040-A-C c.5898T>G p.H1966Q Missense 31/34 - 1
9-139395040-A-T c.5898T>A p.H1966Q Missense 31/34 - 1
9-139395041-T-C c.5897A>G p.H1966R Missense 31/34 - 2
9-139395042-G-A c.5896C>T p.H1966Y Missense 31/34 - 1
9-139395043-C-A c.5895G>T p.L1965= Synonymous 31/34 - 1
9-139395043-C-G c.5895G>C p.L1965= Synonymous 31/34 - 1
9-139395043-C-T c.5895G>A p.L1965= Synonymous 31/34 - 1
9-139395045-G-A c.5893C>T p.L1965= Synonymous 31/34 - 1
9-139395047-G-A c.5891C>T p.P1964L Missense 31/34 - 5
9-139395048-G-A c.5890C>T p.P1964S Missense 31/34 - 1
9-139395048-G-T c.5890C>A p.P1964T Missense 31/34 - 1
9-139395053-C-A c.5885G>T p.R1962L Missense 31/34 - 1
9-139395053-C-T c.5885G>A p.R1962H Missense 31/34 - 13
9-139395054-G-A c.5884C>T p.R1962C Missense 31/34 - 3
9-139395054-G-T c.5884C>A p.R1962S Missense 31/34 - 3
9-139395055-G-A c.5883C>T p.G1961= Synonymous 31/34 - 1
9-139395056-C-T c.5882G>A p.G1961D Missense 31/34 - 2
9-139395058-C-A c.5880G>T p.M1960I Missense 31/34 - 1
9-139395058-C-G c.5880G>C p.M1960I Missense 31/34 - 1
9-139395058-C-T c.5880G>A p.M1960I Missense 31/34 - 1
9-139395059-A-G c.5879T>C p.M1960T Missense 31/34 - 1
9-139395059-A-T c.5879T>A p.M1960K Missense 31/34 - 1
9-139395062-T-C c.5876A>G p.N1959S Missense 31/34 - 2
9-139395062-T-G c.5876A>C p.N1959T Missense 31/34 - 1
9-139395065-T-G c.5873A>C p.D1958A Missense 31/34 - 1
9-139395067-C-A c.5871G>T p.Q1957H Missense 31/34 - 2
9-139395067-C-G c.5871G>C p.Q1957H Missense 31/34 - 1
9-139395068-T-C c.5870A>G p.Q1957R Missense 31/34 - 1
9-139395068-T-G c.5870A>C p.Q1957P Missense 31/34 - 8
9-139395069-G-A c.5869C>T p.Q1957* Nonsense 31/34 - 5
9-139395071-A-G c.5867T>C p.I1956T Missense 31/34 - 1
9-139395073-TG-T c.5865del p.N1955Kfs*26 Frameshift 31/34 - 1
9-139395076-G-A c.5862C>T p.A1954= Synonymous 31/34 - 4
9-139395076-G-C c.5862C>G p.A1954= Synonymous 31/34 - 3
9-139395076-G-T c.5862C>A p.A1954= Synonymous 31/34 - 3
9-139395077-G-A c.5861C>T p.A1954V Missense 31/34 - 1
9-139395077-G-C c.5861C>G p.A1954G Missense 31/34 - 1
9-139395077-G-T c.5861C>A p.A1954D Missense 31/34 - 1
9-139395079-A-G c.5859T>C p.D1953= Synonymous 31/34 - 1
9-139395081-C-T c.5857G>A p.D1953N Missense 31/34 - 1
9-139395084-C-T c.5854G>A p.A1952T Missense 31/34 - 7
9-139395085-G-A c.5853C>T p.S1951= Synonymous 31/34 - 4
9-139395086-C-G c.5852G>C p.S1951T Missense 31/34 - 1
9-139395086-C-T c.5852G>A p.S1951N Missense 31/34 - 5
9-139395089-G-A c.5849C>T p.A1950V Missense 31/34 - 2
9-139395090-C-T c.5848G>A p.A1950T Missense 31/34 - 2
9-139395093-C-T c.5845G>A p.E1949K Missense 31/34 - 1
9-139395094-C-CA c.5843dup p.E1949Gfs*46 Frameshift 31/34 - 1
9-139395096-G-T c.5842C>A p.L1948M Missense 31/34 - 3
9-139395099-G-A c.5839C>T p.L1947= Synonymous 31/34 - 1
9-139395101-C-A c.5837G>T p.R1946L Missense 31/34 - 1
9-139395101-C-G c.5837G>C p.R1946P Missense 31/34 - 1
9-139395101-C-T c.5837G>A p.R1946H Missense 31/34 - 8
9-139395102-G-A c.5836C>T p.R1946C Missense 31/34 - 5
9-139395105-T-C c.5833A>G p.K1945E Missense 31/34 - 1
9-139395108-C-A c.5830G>T p.A1944S Missense 31/34 - 1
9-139395108-C-T c.5830G>A p.A1944T Missense 31/34 - 8
9-139395110-G-A c.5828C>T p.A1943V Missense 31/34 - 2
9-139395111-C-A c.5827G>T p.A1943S Missense 31/34 - 3
9-139395112-A-C c.5826T>G p.D1942E Missense 31/34 - 1
9-139395112-A-T c.5826T>A p.D1942E Missense 31/34 - 1
9-139395113-T-A c.5825A>T p.D1942V Missense 31/34 - 3
9-139395113-TC-CA c.5824_5825delinsTG p.D1942C Missense 31/34 - 1
9-139395113-T-G c.5825A>C p.D1942A Missense 31/34 - 1
9-139395116-G-A c.5822C>T p.S1941F Missense 31/34 - 1
9-139395116-GA-TT c.5821_5822delinsAA p.S1941N Missense 31/34 - 1
9-139395116-G-C c.5822C>G p.S1941C Missense 31/34 - 1
9-139395119-C-A c.5819G>T p.R1940L Missense 31/34 - 1
9-139395119-C-T c.5819G>A p.R1940H Missense 31/34 - 6
9-139395120-G-A c.5818C>T p.R1940C Missense 31/34 - 3
9-139395117-AGCGTGAGTAGCGG-A c.5808_5820del p.R1937Lfs*40 Frameshift 31/34 - 1
9-139395122-G-C c.5816C>G p.S1939* Nonsense 31/34 - 4
9-139395122-G-T c.5816C>A p.S1939* Nonsense 31/34 - 2
9-139395124-G-A c.5814C>T p.Y1938= Synonymous 31/34 - 1
9-139395124-G-C c.5814C>G p.Y1938* Nonsense 31/34 - 3
9-139395124-G-T c.5814C>A p.Y1938* Nonsense 31/34 - 1
9-139395128-C-A c.5810G>T p.R1937L Missense 31/34 - 3
9-139395128-C-T c.5810G>A p.R1937H Missense 31/34 - 8
9-139395129-G-A c.5809C>T p.R1937C Missense 31/34 - 4
9-139395129-G-C c.5809C>G p.R1937G Missense 31/34 - 1
9-139395131-G-A c.5807C>T p.A1936V Missense 31/34 - 2
9-139395131-G-T c.5807C>A p.A1936D Missense 31/34 - 1
9-139395132-C-G c.5806G>C p.A1936P Missense 31/34 - 1
9-139395132-C-T c.5806G>A p.A1936T Missense 31/34 - 11
9-139395133-G-C c.5805C>G p.A1935= Synonymous 31/34 - 1
9-139395134-G-A c.5804C>T p.A1935V Missense 31/34 - 2
9-139395135-C-T c.5803G>A p.A1935T Missense 31/34 - 1
9-139395138-G-T c.5800C>A p.L1934M Missense 31/34 - 3
9-139395140-GTGC-G c.5796_5798del p.L1932_H1933delinsF MultiAAMissense 31/34 - 1
9-139395141-G-A c.5797C>T p.H1933Y Missense 31/34 - 2
9-139395141-G-GC c.5796dup p.H1933Afs*10 Frameshift 31/34 - 1
9-139395143-A-AG c.5794_5795insC p.L1932Sfs*11 Frameshift 31/34 - 1
9-139395143-A-ATTTATTTCTGCGAGATGACAATGTGTCACCTGAGCTAAGAAATC c.5794_5795insGATTTCTTAGCTCAGGTGACACATTGTCATCTCGCAGAAATAAA p.L1932* Nonsense 31/34 - 1
9-139395143-A-T c.5795T>A p.L1932* Nonsense 31/34 - 1
9-139395142-C-CA c.5795dup p.L1932Ffs*11 Frameshift 31/34 - 1
9-139395147-C-T c.5791G>A p.A1931T Missense 31/34 - 2
9-139395148-G-A c.5790C>T p.T1930= Synonymous 31/34 - 2
9-139395148-G-C c.5790C>G p.T1930= Synonymous 31/34 - 2
9-139395148-G-T c.5790C>A p.T1930= Synonymous 31/34 - 2
9-139395150-T-C c.5788A>G p.T1930A Missense 31/34 - 4
9-139395151-C-A c.5787G>T p.E1929D Missense 31/34 - 1
9-139395152-T-C c.5786A>G p.E1929G Missense 31/34 - 1
9-139395153-C-A c.5785G>T p.E1929* Nonsense 31/34 - 7
9-139395153-C-CA c.5784_5785insT p.E1929* Nonsense 31/34 - 1
9-139395153-C-T c.5785G>A p.E1929K Missense 31/34 - 2
9-139395154-G-A c.5784C>T p.G1928= Synonymous 31/34 - 4
9-139395154-G-C c.5784C>G p.G1928= Synonymous 31/34 - 2
9-139395154-GCC-TCA c.5782_5784delinsTGA p.G1928* Nonsense 31/34 - 1
9-139395154-G-T c.5784C>A p.G1928= Synonymous 31/34 - 3
9-139395155-C-A c.5783G>T p.G1928V Missense 31/34 - 1
9-139395155-C-T c.5783G>A p.G1928D Missense 31/34 - 1
9-139395156-C-A c.5782G>T p.G1928C Missense 31/34 - 1
9-139395156-C-CT c.5781_5782insA p.G1928Rfs*15 Frameshift 31/34 - 1
9-139395156-C-T c.5782G>A p.G1928S Missense 31/34 - 1
9-139395158-G-A c.5780C>T p.T1927M Missense 31/34 - 7
9-139395158-GT-CC c.5779_5780delinsGG p.T1927G Missense 31/34 - 1
9-139395160-GC-TT c.5777_5778delinsAA p.R1926Q Missense 31/34 - 1
9-139395161-C-A c.5777G>T p.R1926L Missense 31/34 - 2
9-139395161-C-T c.5777G>A p.R1926H Missense 31/34 - 10
9-139395162-G-A c.5776C>T p.R1926C Missense 31/34 - 6
9-139395162-G-C c.5776C>G p.R1926G Missense 31/34 - 1
9-139395162-G-T c.5776C>A p.R1926S Missense 31/34 - 2
9-139395164-T-C c.5774A>G p.D1925G Missense 31/34 - 4
9-139395165-C-CA c.5772_5773insT p.D1925* Nonsense 31/34 - 1
9-139395166-T-G c.5772A>C p.T1924= Synonymous 31/34 - 1
9-139395167-G-A c.5771C>T p.T1924I Missense 31/34 - 2
9-139395162-GGTCT-G c.5772_5775del p.D1925Afs*55 Frameshift 31/34 - 1
9-139395169-C-A c.5769G>T p.Q1923H Missense 31/34 - 1
9-139395169-C-G c.5769G>C p.Q1923H Missense 31/34 - 1
9-139395171-G-A c.5767C>T p.Q1923* Nonsense 31/34 - 2
9-139395170-TG-T c.5767del p.Q1923Rfs*58 Frameshift 31/34 - 1
9-139395173-T-A c.5765A>T p.N1922I Missense 31/34 - 1
9-139395173-T-C c.5765A>G p.N1922S Missense 31/34 - 4
9-139395174-T-C c.5764A>G p.N1922D Missense 31/34 - 1
9-139395176-T-C c.5762A>G p.H1921R Missense 31/34 - 1
9-139395177-G-A c.5761C>T p.H1921Y Missense 31/34 - 2
9-139395179-A-G c.5759T>C p.L1920P Missense 31/34 - 5
9-139395179-A-T c.5759T>A p.L1920Q Missense 31/34 - 1
9-139395184-G-A c.5754C>T p.A1918= Synonymous 31/34 - 1
9-139395184-G-C c.5754C>G p.A1918= Synonymous 31/34 - 1
9-139395184-G-T c.5754C>A p.A1918= Synonymous 31/34 - 1
9-139395186-C-T c.5752G>A p.A1918T Missense 31/34 - 12
9-139395187-G-A c.5751C>T p.G1917= Synonymous 31/34 - 2
9-139395187-G-C c.5751C>G p.G1917= Synonymous 31/34 - 2
9-139395187-G-T c.5751C>A p.G1917= Synonymous 31/34 - 2
9-139395188-C-G c.5750G>C p.G1917A Missense 31/34 - 1
9-139395188-C-T c.5750G>A p.G1917D Missense 31/34 - 1
9-139395189-C-T c.5749G>A p.G1917S Missense 31/34 - 1
9-139395190-C-A c.5748G>T p.Q1916H Missense 31/34 - 1
9-139395191-T-C c.5747A>G p.Q1916R Missense 31/34 - 1
9-139395193-G-C c.5745C>G p.Y1915* Nonsense 31/34 - 2
9-139395193-G-T c.5745C>A p.Y1915* Nonsense 31/34 - 2
9-139395192-GGTA-G c.5743_5745del p.Y1915del InFrameDeletion 31/34 - 1
9-139395194-GT-G c.5744del p.Y1915Sfs*66 Frameshift 31/34 - 1
9-139395194-T-C c.5744A>G p.Y1915C Missense 31/34 - 3
9-139395194-T-G c.5744A>C p.Y1915S Missense 31/34 - 2
9-139395195-A-T c.5743T>A p.Y1915N Missense 31/34 - 1
9-139395196-G-C c.5742C>G p.I1914M Missense 31/34 - 1
9-139395203-T-C c.5735A>G p.D1912G Missense 31/34 - 1
9-139395203-T-G c.5735A>C p.D1912A Missense 31/34 - 1
9-139395204-C-T c.5734G>A p.D1912N Missense 31/34 - 1
9-139395204-TC-T c.5734del p.D1912Tfs*69 Frameshift 31/34 - 1
9-139395205-G-A c.5733C>T p.S1911= Synonymous 31/34 - 2
9-139395206-G-A c.5732C>T p.S1911F Missense 31/34 - 7
9-139395207-A-T c.5731T>A p.S1911T Missense 31/34 - 1
9-139395211-G-A c.5727C>T p.V1909= Synonymous 31/34 - 1
9-139395213-C-A c.5725G>T p.V1909F Missense 31/34 - 2
9-139395213-C-T c.5725G>A p.V1909I Missense 31/34 - 1
9-139395214-G-A c.5724C>T p.A1908= Synonymous 31/34 - 1
9-139395214-G-C c.5724C>G p.A1908= Synonymous 31/34 - 1
9-139395214-G-T c.5724C>A p.A1908= Synonymous 31/34 - 1
9-139395216-C-A c.5722G>T p.A1908S Missense 31/34 - 1
9-139395216-C-T c.5722G>A p.A1908T Missense 31/34 - 5
9-139395218-G-A c.5720C>T p.P1907L Missense 31/34 - 10
9-139395219-G-A c.5719C>T p.P1907S Missense 31/34 - 1
9-139395221-G-A c.5717C>T p.A1906V Missense 31/34 - 3
9-139395222-C-T c.5716G>A p.A1906T Missense 31/34 - 5
9-139395223-G-A c.5715C>T p.D1905= Synonymous 31/34 - 1
9-139395228-C-A c.5710G>T p.E1904* Nonsense 31/34 - 3
9-139395229-C-A c.5709G>T p.E1903D Missense 31/34 - 2
9-139395229-C-G c.5709G>C p.E1903D Missense 31/34 - 5
9-139395231-C-A c.5707G>T p.E1903* Nonsense 31/34 - 2
9-139395231-C-T c.5707G>A p.E1903K Missense 31/34 - 1
9-139395234-C-A c.5704G>T p.E1902* Nonsense 31/34 - 1
9-139395234-C-T c.5704G>A p.E1902K Missense 31/34 - 2
9-139395235-C-T c.5703G>A p.E1901= Synonymous 31/34 - 1
9-139395237-C-T c.5701G>A p.E1901K Missense 31/34 - 2
9-139395238-G-A c.5700C>T p.S1900= Synonymous 31/34 - 3
9-139395239-C-A c.5699G>T p.S1900I Missense 31/34 - 1
9-139395239-C-G c.5699G>C p.S1900T Missense 31/34 - 1
9-139395239-C-T c.5699G>A p.S1900N Missense 31/34 - 2
9-139395239-CT-GC c.5698_5699delinsGC p.S1900A Missense 31/34 - 1
9-139395240-T-A c.5698A>T p.S1900C Missense 31/34 - 2
9-139395242-T-A c.5696A>T p.N1899I Missense 31/34 - 1
9-139395245-C-T c.5693G>A p.G1898D Missense 31/34 - 2
9-139395246-C-T c.5692G>A p.G1898S Missense 31/34 - 2
9-139395247-C-A c.5691G>T p.T1897= Synonymous 31/34 - 3
9-139395247-C-G c.5691G>C p.T1897= Synonymous 31/34 - 4
9-139395247-C-T c.5691G>A p.T1897= Synonymous 31/34 - 4
9-139395248-G-A c.5690C>T p.T1897M Missense 31/34 - 1
9-139395249-T-C c.5689A>G p.T1897A Missense 31/34 - 1
9-139395252-C-A c.5686G>T p.E1896* Nonsense 31/34 - 2
9-139395254-A-T c.5684T>A p.L1895Q Missense 31/34 - 1
9-139395257-C-G c.5681G>C p.G1894A Missense 31/34 - 1
9-139395257-C-T c.5681G>A p.G1894D Missense 31/34 - 6
9-139395258-C-T c.5680G>A p.G1894S Missense 31/34 - 7
9-139395259-G-A c.5679C>T p.G1893= Synonymous 31/34 - 3
9-139395259-G-C c.5679C>G p.G1893= Synonymous 31/34 - 1
9-139395259-G-T c.5679C>A p.G1893= Synonymous 31/34 - 1
9-139395260-C-CA c.5677_5678insT p.G1893Vfs*50 Frameshift 31/34 - 2
9-139395260-CC-AA c.5677_5678delinsTT p.G1893F Missense 31/34 - 1
9-139395260-C-T c.5678G>A p.G1893D Missense 31/34 - 1
9-139395261-C-A c.5677G>T p.G1893C Missense 31/34 - 1
9-139395262-C-T c.5676G>A p.G1892= Synonymous 31/34 - 1
9-139395259-GC-G c.5678del p.G1893Afs*88 Frameshift 31/34 - 3
9-139395264-C-A c.5674G>T p.G1892W Missense 31/34 - 1
9-139395265-G-A c.5673C>T p.S1891= Synonymous 31/34 - 2
9-139395266-C-T c.5672G>A p.S1891N Missense 31/34 - 1
9-139395267-T-A c.5671A>T p.S1891C Missense 31/34 - 1
9-139395269-CA-GC c.5668_5669delinsGC p.C1890A Missense 31/34 - 1
9-139395272-G-A c.5666C>T p.S1889F Missense 31/34 - 2
9-139395272-GA-AG c.5665_5666delinsCT p.S1889L Missense 31/34 - 1
9-139395273-A-C c.5665T>G p.S1889A Missense 31/34 - 1
9-139395276-C-T c.5662G>A p.A1888T Missense 31/34 - 3
9-139395277-G-T c.5661C>A p.I1887= Synonymous 31/34 - 1
9-139395280-C-A c.5658G>T p.M1886I Missense 31/34 - 2
9-139395280-C-G c.5658G>C p.M1886I Missense 31/34 - 2
9-139395280-C-T c.5658G>A p.M1886I Missense 31/34 - 2
9-139395285-G-A c.5653C>T p.L1885F Missense 31/34 - 2
9-139395287-G-A c.5651C>T p.P1884L Missense 31/34 - 1
9-139395289-G-A c.5649C>T p.T1883= Synonymous 31/34 - 1
9-139395289-G-C c.5649C>G p.T1883= Synonymous 31/34 - 1
9-139395289-G-T c.5649C>A p.T1883= Synonymous 31/34 - 1
9-139395290-G-A c.5648C>T p.T1883I Missense 31/34 - 2
9-139395292-G-A c.5646C>T p.F1882= Synonymous 31/34 - 1
9-139395299-T-A c.5639A>T p.D1880V Missense 31/34 - 2
9-139395311-G-A c.5639-12C>T - IntronicSNV - 30/33 9
9-139395311-G-C c.5639-12C>G - IntronicSNV - 30/33 9
9-139395337-G-A c.5639-38C>T - IntronicSNV - 30/33 1
9-139395473-C-T c.5639-174G>A - IntronicSNV - 30/33 4
9-139396113-T-A c.5638+87A>T - IntronicSNV - 30/33 6
9-139396116-C-T c.5638+84G>A - IntronicSNV - 30/33 1
9-139396165-G-A c.5638+35C>T - IntronicSNV - 30/33 1
9-139396181-T-C c.5638+19A>G - IntronicSNV - 30/33 1
9-139396200-C-T c.5638G>A p.D1880N Missense 30/34 - 2
9-139396203-G-A c.5635C>T p.P1879S Missense 30/34 - 1
9-139396205-C-A c.5633G>T p.G1878V Missense 30/34 - 1
9-139396203-GC-G c.5634del p.P1879Lfs*8 Frameshift 30/34 - 1
9-139396206-C-A c.5632G>T p.G1878W Missense 30/34 - 1
9-139396206-C-G c.5632G>C p.G1878R Missense 30/34 - 2
9-139396206-C-T c.5632G>A p.G1878R Missense 30/34 - 2
9-139396207-G-A c.5631C>T p.R1877= Synonymous 30/34 - 4
9-139396207-G-C c.5631C>G p.R1877= Synonymous 30/34 - 3
9-139396207-G-T c.5631C>A p.R1877= Synonymous 30/34 - 3
9-139396208-C-T c.5630G>A p.R1877H Missense 30/34 - 2
9-139396209-G-A c.5629C>T p.R1877C Missense 30/34 - 1
9-139396213-A-C c.5625T>G p.N1875K Missense 30/34 - 6
9-139396213-A-T c.5625T>A p.N1875K Missense 30/34 - 8
9-139396214-T-C c.5624A>G p.N1875S Missense 30/34 - 6
9-139396213-A-AT c.5624dup p.N1875Kfs*6 Frameshift 30/34 - 2
9-139396215-T-A c.5623A>T p.N1875Y Missense 30/34 - 1
9-139396217-AC-CT c.5620_5621delinsAG p.V1874S Missense 30/34 - 1
9-139396217-A-T c.5621T>A p.V1874D Missense 30/34 - 1
9-139396218-C-A c.5620G>T p.V1874F Missense 30/34 - 1
9-139396218-C-T c.5620G>A p.V1874I Missense 30/34 - 2
9-139396221-C-A c.5617G>T p.D1873Y Missense 30/34 - 1
9-139396222-C-T c.5616G>A p.M1872I Missense 30/34 - 1
9-139396223-A-G c.5615T>C p.M1872T Missense 30/34 - 1
9-139396224-T-C c.5614A>G p.M1872V Missense 30/34 - 4
9-139396224-T-G c.5614A>C p.M1872L Missense 30/34 - 1
9-139396226-CA-GC c.5611_5612delinsGC p.C1871A Missense 30/34 - 1
9-139396228-G-C c.5610C>G p.D1870E Missense 30/34 - 1
9-139396228-G-T c.5610C>A p.D1870E Missense 30/34 - 1
9-139396230-C-T c.5608G>A p.D1870N Missense 30/34 - 4
9-139396232-G-A c.5606C>T p.A1869V Missense 30/34 - 3
9-139396233-C-A c.5605G>T p.A1869S Missense 30/34 - 1
9-139396233-C-T c.5605G>A p.A1869T Missense 30/34 - 3
9-139396234-G-A c.5604C>T p.D1868= Synonymous 30/34 - 1
9-139396235-T-C c.5603A>G p.D1868G Missense 30/34 - 1
9-139396235-T-G c.5603A>C p.D1868A Missense 30/34 - 1
9-139396236-C-T c.5602G>A p.D1868N Missense 30/34 - 1
9-139396237-A-C c.5601T>G p.V1867= Synonymous 30/34 - 1
9-139396237-A-G c.5601T>C p.V1867= Synonymous 30/34 - 1
9-139396237-A-T c.5601T>A p.V1867= Synonymous 30/34 - 1
9-139396238-A-T c.5600T>A p.V1867D Missense 30/34 - 1
9-139396239-C-A c.5599G>T p.V1867F Missense 30/34 - 2
9-139396239-C-T c.5599G>A p.V1867I Missense 30/34 - 2
9-139396240-C-A c.5598G>T p.E1866D Missense 30/34 - 1
9-139396241-T-C c.5597A>G p.E1866G Missense 30/34 - 1
9-139396242-C-T c.5596G>A p.E1866K Missense 30/34 - 1
9-139396244-C-A c.5594G>T p.G1865V Missense 30/34 - 1
9-139396244-C-T c.5594G>A p.G1865D Missense 30/34 - 1
9-139396245-C-A c.5593G>T p.G1865C Missense 30/34 - 1
9-139396245-C-T c.5593G>A p.G1865S Missense 30/34 - 2
9-139396246-C-A c.5592G>T p.Q1864H Missense 30/34 - 1
9-139396246-C-G c.5592G>C p.Q1864H Missense 30/34 - 1
9-139396248-G-A c.5590C>T p.Q1864* Nonsense 30/34 - 8
9-139396251-G-A c.5587C>T p.P1863S Missense 30/34 - 1
9-139396252-C-A c.5586G>T p.P1862= Synonymous 30/34 - 1
9-139396252-C-G c.5586G>C p.P1862= Synonymous 30/34 - 1
9-139396252-C-T c.5586G>A p.P1862= Synonymous 30/34 - 1
9-139396253-G-A c.5585C>T p.P1862L Missense 30/34 - 5
9-139396253-G-T c.5585C>A p.P1862Q Missense 30/34 - 1
9-139396258-G-A c.5580C>T p.P1860= Synonymous 30/34 - 5
9-139396258-G-C c.5580C>G p.P1860= Synonymous 30/34 - 1
9-139396258-G-T c.5580C>A p.P1860= Synonymous 30/34 - 1
9-139396259-G-A c.5579C>T p.P1860L Missense 30/34 - 2
9-139396259-G-T c.5579C>A p.P1860H Missense 30/34 - 1
9-139396260-G-C c.5578C>G p.P1860A Missense 30/34 - 1
9-139396262-G-A c.5576C>T p.A1859V Missense 30/34 - 3
9-139396263-C-T c.5575G>A p.A1859T Missense 30/34 - 1
9-139396265-A-G c.5573T>C p.M1858T Missense 30/34 - 1
9-139396266-T-A c.5572A>T p.M1858L Missense 30/34 - 1
9-139396266-T-C c.5572A>G p.M1858V Missense 30/34 - 1
9-139396266-T-G c.5572A>C p.M1858L Missense 30/34 - 2
9-139396268-G-A c.5570C>T p.A1857V Missense 30/34 - 1
9-139396271-G-A c.5567C>T p.S1856F Missense 30/34 - 5
9-139396275-T-C c.5563A>G p.M1855V Missense 30/34 - 2
9-139396276-GCG-TCA c.5560_5562delinsTGA p.R1854* Nonsense 30/34 - 1
9-139396277-C-G c.5561G>C p.R1854P Missense 30/34 - 1
9-139396277-C-T c.5561G>A p.R1854H Missense 30/34 - 10
9-139396278-G-A c.5560C>T p.R1854C Missense 30/34 - 7
9-139396284-C-T c.5554G>A p.D1852N Missense 30/34 - 4
9-139396287-C-T c.5551G>A p.A1851T Missense 30/34 - 3
9-139396288-G-A c.5550C>T p.A1850= Synonymous 30/34 - 3
9-139396288-G-C c.5550C>G p.A1850= Synonymous 30/34 - 3
9-139396288-G-T c.5550C>A p.A1850= Synonymous 30/34 - 3
9-139396289-G-A c.5549C>T p.A1850V Missense 30/34 - 1
9-139396292-AT-A c.5546del p.D1849Vfs*38 Frameshift 30/34 - 1
9-139396293-C-A c.5545G>T p.D1849Y Missense 30/34 - 1
9-139396293-C-T c.5545G>A p.D1849N Missense 30/34 - 1
9-139396294-C-A c.5544G>T p.L1848= Synonymous 30/34 - 1
9-139396294-C-G c.5544G>C p.L1848= Synonymous 30/34 - 1
9-139396294-C-T c.5544G>A p.L1848= Synonymous 30/34 - 1
9-139396296-G-A c.5542C>T p.L1848= Synonymous 30/34 - 1
9-139396299-G-A c.5539C>T p.H1847Y Missense 30/34 - 4
9-139396300-C-A c.5538G>T p.Q1846H Missense 30/34 - 2
9-139396300-C-G c.5538G>C p.Q1846H Missense 30/34 - 1
9-139396303-C-T c.5535G>A p.Q1845= Synonymous 30/34 - 1
9-139396305-G-A c.5533C>T p.Q1845* Nonsense 30/34 - 7
9-139396305-G-C c.5533C>G p.Q1845E Missense 30/34 - 2
9-139396305-G-T c.5533C>A p.Q1845K Missense 30/34 - 1
9-139396307-G-C c.5531C>G p.T1844S Missense 30/34 - 1
9-139396308-T-A c.5530A>T p.T1844S Missense 30/34 - 1
9-139396309-C-T c.5529G>A p.W1843* Nonsense 30/34 - 11
9-139396310-C-T c.5528G>A p.W1843* Nonsense 30/34 - 6
9-139396314-G-T c.5524C>A p.Q1842K Missense 30/34 - 1
9-139396316-C-A c.5522G>T p.R1841L Missense 30/34 - 1
9-139396316-C-T c.5522G>A p.R1841Q Missense 30/34 - 2
9-139396317-G-A c.5521C>T p.R1841W Missense 30/34 - 4
9-139396317-G-C c.5521C>G p.R1841G Missense 30/34 - 1
9-139396319-T-C c.5519A>G p.H1840R Missense 30/34 - 2
9-139396321-G-C c.5517C>G p.D1839E Missense 30/34 - 2
9-139396321-G-T c.5517C>A p.D1839E Missense 30/34 - 2
9-139396323-C-T c.5515G>A p.D1839N Missense 30/34 - 2
9-139396325-G-A c.5513C>T p.T1838I Missense 30/34 - 1
9-139396325-G-C c.5513C>G p.T1838R Missense 30/34 - 2
9-139396325-G-T c.5513C>A p.T1838K Missense 30/34 - 1
9-139396327-C-A c.5511G>T p.Q1837H Missense 30/34 - 1
9-139396327-C-G c.5511G>C p.Q1837H Missense 30/34 - 1
9-139396328-T-C c.5510A>G p.Q1837R Missense 30/34 - 3
9-139396331-T-C c.5507A>G p.D1836G Missense 30/34 - 1
9-139396332-C-A c.5506G>T p.D1836Y Missense 30/34 - 1
9-139396332-C-T c.5506G>A p.D1836N Missense 30/34 - 4
9-139396333-CG-C c.5505del p.D1835Efs*52 Frameshift 30/34 - 1
9-139396336-C-A c.5502G>T p.L1834= Synonymous 30/34 - 1
9-139396337-A-G c.5501T>C p.L1834P Missense 30/34 - 1
9-139396338-G-A c.5500C>T p.L1834= Synonymous 30/34 - 1
9-139396339-G-C c.5499C>G p.D1833E Missense 30/34 - 1
9-139396339-G-T c.5499C>A p.D1833E Missense 30/34 - 1
9-139396341-C-G c.5497G>C p.D1833H Missense 30/34 - 1
9-139396341-C-T c.5497G>A p.D1833N Missense 30/34 - 1
9-139396343-G-C c.5495C>G p.P1832R Missense 30/34 - 2
9-139396344-G-A c.5494C>T p.P1832S Missense 30/34 - 1
9-139396353-C-T c.5485G>A p.V1829M Missense 30/34 - 3
9-139396357-C-T c.5481G>A p.E1827= Synonymous 30/34 - 1
9-139396358-T-A c.5480A>T p.E1827V Missense 30/34 - 1
9-139396359-C-A c.5479G>T p.E1827* Nonsense 30/34 - 1
9-139396359-C-T c.5479G>A p.E1827K Missense 30/34 - 1
9-139396360-C-A c.5478G>T p.E1826D Missense 30/34 - 2
9-139396360-C-G c.5478G>C p.E1826D Missense 30/34 - 1
9-139396362-C-A c.5476G>T p.E1826* Nonsense 30/34 - 5
9-139396362-C-G c.5476G>C p.E1826Q Missense 30/34 - 1
9-139396362-C-T c.5476G>A p.E1826K Missense 30/34 - 5
9-139396363-G-A c.5475C>T p.F1825= Synonymous 30/34 - 1
9-139396363-G-C c.5475C>G p.F1825L Missense 30/34 - 1
9-139396365-A-C c.5473T>G p.F1825V Missense 30/34 - 1
9-139396408-A-G c.5473-43T>C - IntronicSNV - 29/33 19
9-139396452-C-T c.5472+1G>A - IntronicSNV - 29/33 1
9-139396454-C-A c.5471G>T p.R1824L Missense 29/34 - 2
9-139396454-C-T c.5471G>A p.R1824Q Missense 29/34 - 3
9-139396455-G-A c.5470C>T p.R1824W Missense 29/34 - 4
9-139396454-C-CG c.5470dup p.R1824Pfs*10 SpliceDonorInsertion 29/34 - 2
9-139396456-G-A c.5469C>T p.F1823= Synonymous 29/34 - 1
9-139396456-G-C c.5469C>G p.F1823L Missense 29/34 - 1
9-139396465-GG-CA c.5459_5460delinsTG p.T1820M Missense 29/34 - 1
9-139396466-G-A c.5459C>T p.T1820I Missense 29/34 - 1
9-139396466-G-T c.5459C>A p.T1820N Missense 29/34 - 1
9-139396467-T-C c.5458A>G p.T1820A Missense 29/34 - 1
9-139396470-C-A c.5455G>T p.E1819* Nonsense 29/34 - 2
9-139396470-C-T c.5455G>A p.E1819K Missense 29/34 - 3
9-139396473-G-C c.5452C>G p.L1818V Missense 29/34 - 2
9-139396476-C-T c.5449G>A p.D1817N Missense 29/34 - 1
9-139396478-T-C c.5447A>G p.E1816G Missense 29/34 - 1
9-139396479-C-T c.5446G>A p.E1816K Missense 29/34 - 3
9-139396480-G-A c.5445C>T p.D1815= Synonymous 29/34 - 4
9-139396482-C-A c.5443G>T p.D1815Y Missense 29/34 - 1
9-139396482-C-CA c.5442_5443insT p.D1815* Nonsense 29/34 - 4
9-139396484-C-T c.5441G>A p.G1814E Missense 29/34 - 2
9-139396485-C-G c.5440G>C p.G1814R Missense 29/34 - 1
9-139396485-C-T c.5440G>A p.G1814R Missense 29/34 - 2
9-139396481-TC-T c.5443del p.D1815Tfs*72 Frameshift 29/34 - 3
9-139396481-T-TC c.5443dup p.D1815Gfs*19 Frameshift 29/34 - 2
9-139396486-C-T c.5439G>A p.W1813* Nonsense 29/34 - 8
9-139396487-C-A c.5438G>T p.W1813L Missense 29/34 - 4
9-139396487-C-G c.5438G>C p.W1813S Missense 29/34 - 4
9-139396487-C-T c.5438G>A p.W1813* Nonsense 29/34 - 13
9-139396488-A-C c.5437T>G p.W1813G Missense 29/34 - 1
9-139396488-A-G c.5437T>C p.W1813R Missense 29/34 - 1
9-139396489-C-T c.5436G>A p.E1812= Synonymous 29/34 - 1
9-139396491-C-A c.5434G>T p.E1812* Nonsense 29/34 - 1
9-139396493-T-C c.5432A>G p.N1811S Missense 29/34 - 1
9-139396497-G-A c.5428C>T p.Q1810* Nonsense 29/34 - 2
9-139396497-G-C c.5428C>G p.Q1810E Missense 29/34 - 2
9-139396496-TG-T c.5428del p.Q1810Rfs*77 Frameshift 29/34 - 1
9-139396500-T-G c.5425A>C p.N1809H Missense 29/34 - 1
9-139396503-C-A c.5422G>T p.D1808Y Missense 29/34 - 1
9-139396503-C-T c.5422G>A p.D1808N Missense 29/34 - 10
9-139396504-G-A c.5421C>T p.D1807= Synonymous 29/34 - 5
9-139396505-T-G c.5420A>C p.D1807A Missense 29/34 - 1
9-139396507-C-A c.5418G>T p.M1806I Missense 29/34 - 2
9-139396507-C-G c.5418G>C p.M1806I Missense 29/34 - 2
9-139396507-C-T c.5418G>A p.M1806I Missense 29/34 - 3
9-139396509-T-C c.5416A>G p.M1806V Missense 29/34 - 1
9-139396511-A-G c.5414T>C p.L1805P Missense 29/34 - 3
9-139396512-G-T c.5413C>A p.L1805I Missense 29/34 - 1
9-139396514-G-T c.5411C>A p.A1804D Missense 29/34 - 1
9-139396519-G-C c.5406C>G p.D1802E Missense 29/34 - 1
9-139396519-G-T c.5406C>A p.D1802E Missense 29/34 - 1
9-139396521-C-T c.5404G>A p.D1802N Missense 29/34 - 2
9-139396523-G-A c.5402C>T p.S1801L Missense 29/34 - 1
9-139396523-G-C c.5402C>G p.S1801* Nonsense 29/34 - 1
9-139396523-G-T c.5402C>A p.S1801* Nonsense 29/34 - 1
9-139396523-GA-G c.5401del p.S1801Qfs*86 Frameshift 29/34 - 1
9-139396526-G-A c.5399C>T p.A1800V Missense 29/34 - 4
9-139396527-C-T c.5398G>A p.A1800T Missense 29/34 - 2
9-139396528-G-A c.5397C>T p.N1799= Synonymous 29/34 - 2
9-139396528-G-T c.5397C>A p.N1799K Missense 29/34 - 3
9-139396529-T-G c.5396A>C p.N1799T Missense 29/34 - 6
9-139396531-CT-GA c.5393_5394delinsTC p.K1798I Missense 29/34 - 1
9-139396534-C-A c.5391G>T p.L1797= Synonymous 29/34 - 3
9-139396534-C-G c.5391G>C p.L1797= Synonymous 29/34 - 3
9-139396534-C-T c.5391G>A p.L1797= Synonymous 29/34 - 3
9-139396536-G-A c.5389C>T p.L1797= Synonymous 29/34 - 3
9-139396538-G-A c.5387C>T p.P1796L Missense 29/34 - 1
9-139396539-G-A c.5386C>T p.P1796S Missense 29/34 - 1
9-139396539-G-T c.5386C>A p.P1796T Missense 29/34 - 4
9-139396554-G-A c.5385-14C>T - IntronicSNV - 28/33 1
9-139396667-C-T c.5384+57G>A - IntronicSNV - 28/33 1
9-139396673-C-T c.5384+51G>A - IntronicSNV - 28/33 1
9-139396680-C-T c.5384+44G>A - IntronicSNV - 28/33 1
9-139396690-C-T c.5384+34G>A - IntronicSNV - 28/33 9
9-139396714-G-A c.5384+10C>T - IntronicSNV - 28/33 1
9-139396721-C-T c.5384+3G>A - IntronicSNV - 28/33 1
9-139396723-C-T c.5384+1G>A - IntronicSNV - 28/33 3
9-139396726-G-A c.5382C>T p.L1794= Synonymous 28/34 - 2
9-139396726-G-C c.5382C>G p.L1794= Synonymous 28/34 - 1
9-139396726-G-T c.5382C>A p.L1794= Synonymous 28/34 - 1
9-139396727-A-G c.5381T>C p.L1794P Missense 28/34 - 1
9-139396730-C-T c.5378G>A p.G1793D Missense 28/34 - 1
9-139396733-A-G c.5375T>C p.V1792A Missense 28/34 - 1
9-139396733-A-T c.5375T>A p.V1792E Missense 28/34 - 1
9-139396734-C-T c.5374G>A p.V1792M Missense 28/34 - 7
9-139396735-G-A c.5373C>T p.S1791= Synonymous 28/34 - 4
9-139396735-G-C c.5373C>G p.S1791= Synonymous 28/34 - 2
9-139396735-G-T c.5373C>A p.S1791= Synonymous 28/34 - 2
9-139396737-A-C c.5371T>G p.S1791A Missense 28/34 - 1
9-139396737-A-G c.5371T>C p.S1791P Missense 28/34 - 1
9-139396738-G-T c.5370C>A p.D1790E Missense 28/34 - 1
9-139396740-C-A c.5368G>T p.D1790Y Missense 28/34 - 1
9-139396740-C-T c.5368G>A p.D1790N Missense 28/34 - 1
9-139396742-T-C c.5366A>G p.E1789G Missense 28/34 - 1
9-139396743-C-A c.5365G>T p.E1789* Nonsense 28/34 - 1
9-139396743-C-G c.5365G>C p.E1789Q Missense 28/34 - 1
9-139396743-C-T c.5365G>A p.E1789K Missense 28/34 - 3
9-139396744-G-A c.5364C>T p.G1788= Synonymous 28/34 - 1
9-139396745-C-G c.5363G>C p.G1788A Missense 28/34 - 1
9-139396745-C-T c.5363G>A p.G1788D Missense 28/34 - 1
9-139396746-C-G c.5362G>C p.G1788R Missense 28/34 - 1
9-139396746-C-T c.5362G>A p.G1788S Missense 28/34 - 8
9-139396750-G-A c.5358C>T p.P1786= Synonymous 28/34 - 5
9-139396750-G-C c.5358C>G p.P1786= Synonymous 28/34 - 1
9-139396750-G-T c.5358C>A p.P1786= Synonymous 28/34 - 1
9-139396751-G-A c.5357C>T p.P1786L Missense 28/34 - 3
9-139396748-AG-A c.5359del p.L1787Sfs*11 Frameshift 28/34 - 1
9-139396752-G-A c.5356C>T p.P1786S Missense 28/34 - 1
9-139396753-C-A c.5355G>T p.E1785D Missense 28/34 - 1
9-139396753-C-G c.5355G>C p.E1785D Missense 28/34 - 1
9-139396754-T-C c.5354A>G p.E1785G Missense 28/34 - 1
9-139396755-C-CA c.5352_5353insT p.E1785* Nonsense 28/34 - 1
9-139396757-C-A c.5351G>T p.R1784L Missense 28/34 - 6
9-139396757-C-G c.5351G>C p.R1784P Missense 28/34 - 2
9-139396757-C-T c.5351G>A p.R1784Q Missense 28/34 - 2
9-139396756-C-A c.5352G>T p.R1784= Synonymous 28/34 - 3
9-139396756-C-G c.5352G>C p.R1784= Synonymous 28/34 - 2
9-139396756-C-T c.5352G>A p.R1784= Synonymous 28/34 - 3
9-139396758-G-A c.5350C>T p.R1784W Missense 28/34 - 2
9-139396758-G-T c.5350C>A p.R1784= Synonymous 28/34 - 2
9-139396758-GC-G c.5349del p.R1784Gfs*14 Frameshift 28/34 - 2
9-139396760-C-A c.5348G>T p.R1783L Missense 28/34 - 1
9-139396760-C-T c.5348G>A p.R1783Q Missense 28/34 - 4
9-139396761-G-A c.5347C>T p.R1783W Missense 28/34 - 10
9-139396761-G-T c.5347C>A p.R1783= Synonymous 28/34 - 1
9-139396763-T-G c.5345A>C p.K1782T Missense 28/34 - 1
9-139396765-C-T c.5343G>A p.K1781= Synonymous 28/34 - 2
9-139396768-C-T c.5340G>A p.K1780= Synonymous 28/34 - 4
9-139396770-T-A c.5338A>T p.K1780* Nonsense 28/34 - 1
9-139396771-G-A c.5337C>T p.S1779= Synonymous 28/34 - 1
9-139396771-G-C c.5337C>G p.S1779R Missense 28/34 - 1
9-139396771-G-T c.5337C>A p.S1779R Missense 28/34 - 1
9-139396773-T-G c.5335A>C p.S1779R Missense 28/34 - 1
9-139396773-TG-T c.5334del p.S1779Afs*19 Frameshift 28/34 - 2
9-139396775-G-A c.5333C>T p.A1778V Missense 28/34 - 3
9-139396776-C-G c.5332G>C p.A1778P Missense 28/34 - 1
9-139396776-C-T c.5332G>A p.A1778T Missense 28/34 - 1
9-139396778-CT-C c.5330del p.E1777Gfs*21 Frameshift 28/34 - 1
9-139396778-T-TA c.5329_5330insT p.E1777Vfs*36 Frameshift 28/34 - 1
9-139396779-C-CA c.5328dup p.E1777* Nonsense 28/34 - 1
9-139396781-G-C c.5327C>G p.S1776C Missense 28/34 - 5
9-139396785-C-A c.5323G>T p.V1775L Missense 28/34 - 1
9-139396787-T-C c.5321A>G p.K1774R Missense 28/34 - 1
9-139396789-G-C c.5319C>G p.F1773L Missense 28/34 - 2
9-139396789-G-GA c.5318dup p.K1774Qfs*4 Frameshift 28/34 - 1
9-139396789-G-T c.5319C>A p.F1773L Missense 28/34 - 2
9-139396791-A-G c.5317T>C p.F1773L Missense 28/34 - 2
9-139396791-A-T c.5317T>A p.F1773I Missense 28/34 - 1
9-139396792-G-A c.5316C>T p.G1772= Synonymous 28/34 - 2
9-139396794-C-T c.5314G>A p.G1772S Missense 28/34 - 1
9-139396796-T-C c.5312A>G p.E1771G Missense 28/34 - 1
9-139396797-C-T c.5311G>A p.E1771K Missense 28/34 - 1
9-139396799-G-A c.5309C>T p.P1770L Missense 28/34 - 2
9-139396799-GG-AA c.5308_5309delinsTT p.P1770F Missense 28/34 - 2
9-139396799-G-T c.5309C>A p.P1770H Missense 28/34 - 1
9-139396800-G-A c.5308C>T p.P1770S Missense 28/34 - 12
9-139396801-G-A c.5307C>T p.F1769= Synonymous 28/34 - 1
9-139396801-G-C c.5307C>G p.F1769L Missense 28/34 - 1
9-139396801-G-T c.5307C>A p.F1769L Missense 28/34 - 1
9-139396803-A-C c.5305T>G p.F1769V Missense 28/34 - 1
9-139396803-A-G c.5305T>C p.F1769L Missense 28/34 - 2
9-139396804-C-T c.5304G>A p.W1768* Nonsense 28/34 - 3
9-139396805-C-T c.5303G>A p.W1768* Nonsense 28/34 - 5
9-139396807-G-A c.5301C>T p.L1767= Synonymous 28/34 - 1
9-139396809-G-A c.5299C>T p.L1767F Missense 28/34 - 5
9-139396809-G-C c.5299C>G p.L1767V Missense 28/34 - 1
9-139396811-T-G c.5297A>C p.Q1766P Missense 28/34 - 1
9-139396813-G-A c.5295C>T p.G1765= Synonymous 28/34 - 1
9-139396813-G-C c.5295C>G p.G1765= Synonymous 28/34 - 1
9-139396813-G-T c.5295C>A p.G1765= Synonymous 28/34 - 1
9-139396814-C-T c.5294G>A p.G1765D Missense 28/34 - 4
9-139396815-C-A c.5293G>T p.G1765C Missense 28/34 - 1
9-139396815-C-T c.5293G>A p.G1765S Missense 28/34 - 1
9-139396818-G-T c.5290C>A p.H1764N Missense 28/34 - 1
9-139396821-G-A c.5287C>T p.Q1763* Nonsense 28/34 - 4
9-139396823-C-T c.5285G>A p.R1762Q Missense 28/34 - 1
9-139396824-G-A c.5284C>T p.R1762W Missense 28/34 - 1
9-139396826-C-T c.5282G>A p.R1761Q Missense 28/34 - 3
9-139396827-G-A c.5281C>T p.R1761W Missense 28/34 - 3
9-139396826-CG-C c.5281del p.R1761Gfs*37 Frameshift 28/34 - 1
9-139396828-G-T c.5280C>A p.R1760= Synonymous 28/34 - 1
9-139396830-G-A c.5278C>T p.R1760C Missense 28/34 - 1
9-139396835-C-A c.5273G>T p.R1758L Missense 28/34 - 2
9-139396835-C-T c.5273G>A p.R1758H Missense 28/34 - 11
9-139396836-G-A c.5272C>T p.R1758C Missense 28/34 - 4
9-139396836-G-C c.5272C>G p.R1758G Missense 28/34 - 2
9-139396836-G-T c.5272C>A p.R1758S Missense 28/34 - 2
9-139396840-C-T c.5268G>A p.L1756= Synonymous 28/34 - 1
9-139396841-A-C c.5267T>G p.L1756R Missense 28/34 - 2
9-139396842-G-C c.5266C>G p.L1756V Missense 28/34 - 2
9-139396844-A-G c.5264T>C p.L1755P Missense 28/34 - 1
9-139396846-C-A c.5262G>T p.V1754= Synonymous 28/34 - 1
9-139396847-A-C c.5261T>G p.V1754G Missense 28/34 - 2
9-139396847-A-G c.5261T>C p.V1754A Missense 28/34 - 1
9-139396848-C-A c.5260G>T p.V1754L Missense 28/34 - 3
9-139396848-C-G c.5260G>C p.V1754L Missense 28/34 - 2
9-139396847-AC-A c.5260del p.V1754Cfs*44 Frameshift 28/34 - 3
9-139396851-C-A c.5257G>T p.G1753W Missense 28/34 - 3
9-139396851-C-G c.5257G>C p.G1753R Missense 28/34 - 1
9-139396851-C-T c.5257G>A p.G1753R Missense 28/34 - 2
9-139396852-G-A c.5256C>T p.C1752= Synonymous 28/34 - 2
9-139396852-G-T c.5256C>A p.C1752* Nonsense 28/34 - 2
9-139396855-AGCCC-A c.5250_5253del p.G1751Afs*46 Frameshift 28/34 - 2
9-139396856-C-A c.5252G>T p.G1751V Missense 28/34 - 1
9-139396856-C-T c.5252G>A p.G1751D Missense 28/34 - 2
9-139396860-ACG-A c.5247_5248del p.V1750Gfs*21 Frameshift 28/34 - 2
9-139396860-C-T c.5248G>A p.V1750M Missense 28/34 - 8
9-139396861-G-A c.5247C>T p.F1749= Synonymous 28/34 - 6
9-139396862-A-G c.5246T>C p.F1749S Missense 28/34 - 1
9-139396861-G-C c.5247C>G p.F1749L Missense 28/34 - 1
9-139396861-G-T c.5247C>A p.F1749L Missense 28/34 - 1
9-139396863-A-G c.5245T>C p.F1749L Missense 28/34 - 1
9-139396864-G-A c.5244C>T p.F1748= Synonymous 28/34 - 1
9-139396864-G-C c.5244C>G p.F1748L Missense 28/34 - 3
9-139396864-G-T c.5244C>A p.F1748L Missense 28/34 - 3
9-139396866-A-G c.5242T>C p.F1748L Missense 28/34 - 3
9-139396867-C-A c.5241G>T p.L1747= Synonymous 28/34 - 2
9-139396867-C-T c.5241G>A p.L1747= Synonymous 28/34 - 2
9-139396870-A-G c.5238T>C p.L1746= Synonymous 28/34 - 1
9-139396872-G-A c.5236C>T p.L1746F Missense 28/34 - 1
9-139396874-A-C c.5234T>G p.V1745G Missense 28/34 - 1
9-139396875-C-T c.5233G>A p.V1745M Missense 28/34 - 1
9-139396876-A-G c.5232T>C p.F1744= Synonymous 28/34 - 1
9-139396876-A-T c.5232T>A p.F1744L Missense 28/34 - 2
9-139396878-A-G c.5230T>C p.F1744L Missense 28/34 - 1
9-139396879-G-A c.5229C>T p.A1743= Synonymous 28/34 - 1
9-139396878-AG-A c.5229del p.F1744Lfs*54 Frameshift 28/34 - 1
9-139396881-C-T c.5227G>A p.A1743T Missense 28/34 - 3
9-139396882-G-A c.5226C>T p.A1742= Synonymous 28/34 - 3
9-139396882-G-C c.5226C>G p.A1742= Synonymous 28/34 - 2
9-139396882-G-T c.5226C>A p.A1742= Synonymous 28/34 - 3
9-139396883-G-C c.5225C>G p.A1742G Missense 28/34 - 1
9-139396883-GC-CG c.5224_5225delinsCG p.A1742R Missense 28/34 - 1
9-139396884-C-A c.5224G>T p.A1742S Missense 28/34 - 3
9-139396884-C-G c.5224G>C p.A1742P Missense 28/34 - 1
9-139396883-GC-G c.5224del p.A1742Pfs*56 Frameshift 28/34 - 1
9-139396885-C-G c.5223G>C p.A1741= Synonymous 28/34 - 1
9-139396886-G-A c.5222C>T p.A1741V Missense 28/34 - 2
9-139396886-GC-CT c.5221_5222delinsAG p.A1741R Missense 28/34 - 1
9-139396887-C-A c.5221G>T p.A1741S Missense 28/34 - 1
9-139396886-GC-G c.5221del p.A1741Rfs*57 Frameshift 28/34 - 3
9-139396888-C-T c.5220G>A p.A1740= Synonymous 28/34 - 1
9-139396889-G-A c.5219C>T p.A1740V Missense 28/34 - 4
9-139396890-C-A c.5218G>T p.A1740S Missense 28/34 - 4
9-139396890-C-G c.5218G>C p.A1740P Missense 28/34 - 1
9-139396890-C-T c.5218G>A p.A1740T Missense 28/34 - 1
9-139396892-A-C c.5216T>G p.V1739G Missense 28/34 - 1
9-139396892-A-T c.5216T>A p.V1739E Missense 28/34 - 1
9-139396893-C-A c.5215G>T p.V1739L Missense 28/34 - 2
9-139396893-C-G c.5215G>C p.V1739L Missense 28/34 - 2
9-139396893-C-T c.5215G>A p.V1739M Missense 28/34 - 5
9-139396894-G-A c.5214C>T p.Y1738= Synonymous 28/34 - 3
9-139396895-T-A c.5213A>T p.Y1738F Missense 28/34 - 1
9-139396895-T-C c.5213A>G p.Y1738C Missense 28/34 - 1
9-139396899-T-TG c.5208dup p.M1737Hfs*35 Frameshift 28/34 - 1
9-139396902-A-G c.5206T>C p.F1736L Missense 28/34 - 1
9-139396903-G-T c.5205C>A p.H1735Q Missense 28/34 - 1
9-139396904-T-C c.5204A>G p.H1735R Missense 28/34 - 2
9-139396904-T-G c.5204A>C p.H1735P Missense 28/34 - 1
9-139396905-G-A c.5203C>T p.H1735Y Missense 28/34 - 2
9-139396907-A-C c.5201T>G p.L1734R Missense 28/34 - 1
9-139396911-G-A c.5197C>T p.Q1733* Nonsense 28/34 - 4
9-139396913-G-A c.5195C>T p.A1732V Missense 28/34 - 5
9-139396914-C-A c.5194G>T p.A1732S Missense 28/34 - 1
9-139396916-G-A c.5192C>T p.P1731L Missense 28/34 - 7
9-139396915-C-CG c.5192dup p.A1732Gfs*40 Frameshift 28/34 - 1
9-139396918-C-A c.5190G>T p.P1730= Synonymous 28/34 - 2
9-139396918-C-G c.5190G>C p.P1730= Synonymous 28/34 - 2
9-139396918-C-T c.5190G>A p.P1730= Synonymous 28/34 - 3
9-139396919-G-A c.5189C>T p.P1730L Missense 28/34 - 5
9-139396919-G-C c.5189C>G p.P1730R Missense 28/34 - 1
9-139396919-G-T c.5189C>A p.P1730Q Missense 28/34 - 2
9-139396920-G-A c.5188C>T p.P1730S Missense 28/34 - 1
9-139396921-G-A c.5187C>T p.P1729= Synonymous 28/34 - 1
9-139396918-C-CG c.5189dup p.P1731Afs*41 Frameshift 28/34 - 1
9-139396918-CG-C c.5189del p.P1730Rfs*68 Frameshift 28/34 - 2
9-139396923-G-A c.5185C>T p.P1729S Missense 28/34 - 1
9-139396925-G-A c.5183C>T p.P1728L Missense 28/34 - 3
9-139396925-G-C c.5183C>G p.P1728R Missense 28/34 - 1
9-139396930-C-CG c.5177_5178insC p.E1727Gfs*45 Frameshift 28/34 - 1
9-139396932-C-T c.5176G>A p.V1726M Missense 28/34 - 2
9-139396933-G-A c.5175C>T p.T1725= Synonymous 28/34 - 2
9-139396933-G-C c.5175C>G p.T1725= Synonymous 28/34 - 1
9-139396933-G-T c.5175C>A p.T1725= Synonymous 28/34 - 1
9-139396934-G-A c.5174C>T p.T1725I Missense 28/34 - 1
9-139396935-T-G c.5173A>C p.T1725P Missense 28/34 - 1
9-139396938-C-T c.5170G>A p.E1724K Missense 28/34 - 1
9-139396940-C-T c.5168G>A p.S1723N Missense 28/34 - 1
9-139396983-A-G c.5168-43T>C - IntronicSNV - 27/33 6
9-139397312-CT-C c.5167+321del - IntronicDeletion - 27/33 1
9-139397406-A-C c.5167+228T>G - IntronicSNV - 27/33 1
9-139397426-G-A c.5167+208C>T - IntronicSNV - 27/33 2
9-139397426-G-C c.5167+208C>G - IntronicSNV - 27/33 2
9-139397513-C-G c.5167+121G>C - IntronicSNV - 27/33 1
9-139397519-C-A c.5167+115G>T - IntronicSNV - 27/33 1
9-139397519-C-T c.5167+115G>A - IntronicSNV - 27/33 1
9-139397520-G-A c.5167+114C>T - IntronicSNV - 27/33 1
9-139397557-C-G c.5167+77G>C - IntronicSNV - 27/33 5
9-139397627-CACTT-C c.5167+3_5167+6del - IntronicDeletion 27/34 27/33 1
9-139397631-T-C c.5167+3A>G - IntronicSNV - 27/33 1
9-139397633-C-T c.5167+1G>A - IntronicSNV - 27/33 3
9-139397636-T-G c.5165A>C p.Q1722P Missense 27/34 - 2
9-139397637-G-A c.5164C>T p.Q1722* Nonsense 27/34 - 3
9-139397638-C-A c.5163G>T p.V1721= Synonymous 27/34 - 3
9-139397638-C-G c.5163G>C p.V1721= Synonymous 27/34 - 1
9-139397638-C-T c.5163G>A p.V1721= Synonymous 27/34 - 1
9-139397639-A-C c.5162T>G p.V1721G Missense 27/34 - 8
9-139397639-A-G c.5162T>C p.V1721A Missense 27/34 - 1
9-139397639-A-T c.5162T>A p.V1721E Missense 27/34 - 4
9-139397640-C-T c.5161G>A p.V1721M Missense 27/34 - 9
9-139397641-G-A c.5160C>T p.A1720= Synonymous 27/34 - 5
9-139397641-G-C c.5160C>G p.A1720= Synonymous 27/34 - 2
9-139397641-G-T c.5160C>A p.A1720= Synonymous 27/34 - 2
9-139397637-G-GCACGGGCCTCGATCTTGTAGGGGATGTTGAGGCTGCCCAGCGAGGCGAGCGCTCCCAGGAATGCGGC c.5163_5164insGCCGCATTCCTGGGAGCGCTCGCCTCGCTGGGCAGCCTCAACATCCCCTACAAGATCGAGGCCCGTG p.Q1722Afs*25 Frameshift 27/34 - 1
9-139397643-C-A c.5158G>T p.A1720S Missense 27/34 - 1
9-139397646-C-A c.5155G>T p.E1719* Nonsense 27/34 - 4
9-139397646-C-CA c.5154_5155insT p.E1719* Nonsense 27/34 - 1
9-139397646-C-T c.5155G>A p.E1719K Missense 27/34 - 1
9-139397646-C-CGCG c.5154_5155insCGC p.I1718_E1719insR InFrameInsertion 27/34 - 1
9-139397647-G-A c.5154C>T p.I1718= Synonymous 27/34 - 6
9-139397647-G-C c.5154C>G p.I1718M Missense 27/34 - 2
9-139397647-G-T c.5154C>A p.I1718= Synonymous 27/34 - 3
9-139397648-A-G c.5153T>C p.I1718T Missense 27/34 - 14
9-139397652-T-TGGTGGG c.5148_5149insCCCACC p.Y1716_K1717insPT InFrameInsertion 27/34 - 2
9-139397654-T-G c.5147A>C p.Y1716S Missense 27/34 - 1
9-139397651-TTGTAGGGGA-T c.5141_5149del p.I1714_Y1716del InFrameDeletion 27/34 - 1
9-139397655-A-T c.5146T>A p.Y1716N Missense 27/34 - 1
9-139397657-G-T c.5144C>A p.P1715H Missense 27/34 - 2
9-139397658-G-A c.5143C>T p.P1715S Missense 27/34 - 2
9-139397659-G-T c.5142C>A p.I1714= Synonymous 27/34 - 1
9-139397660-A-G c.5141T>C p.I1714T Missense 27/34 - 1
9-139397664-T-C c.5137A>G p.N1713D Missense 27/34 - 3
9-139397667-G-A c.5134C>T p.L1712F Missense 27/34 - 1
9-139397670-T-A c.5131A>T p.S1711C Missense 27/34 - 2
9-139397672-C-T c.5129G>A p.G1710D Missense 27/34 - 3
9-139397671-GC-G c.5129del p.G1710Afs*88 Frameshift 27/34 - 1
9-139397675-A-G c.5126T>C p.L1709P Missense 27/34 - 11
9-139397677-C-A c.5124G>T p.S1708= Synonymous 27/34 - 7
9-139397677-C-G c.5124G>C p.S1708= Synonymous 27/34 - 2
9-139397677-C-T c.5124G>A p.S1708= Synonymous 27/34 - 6
9-139397678-G-A c.5123C>T p.S1708L Missense 27/34 - 7
9-139397678-G-C c.5123C>G p.S1708W Missense 27/34 - 1
9-139397680-G-A c.5121C>T p.A1707= Synonymous 27/34 - 1
9-139397679-AG-A c.5121del p.S1708Rfs*90 Frameshift 27/34 - 1
9-139397681-G-A c.5120C>T p.A1707V Missense 27/34 - 1
9-139397681-G-C c.5120C>G p.A1707G Missense 27/34 - 1
9-139397682-C-A c.5119G>T p.A1707S Missense 27/34 - 1
9-139397682-C-T c.5119G>A p.A1707T Missense 27/34 - 8
9-139397683-G-A c.5118C>T p.L1706= Synonymous 27/34 - 1
9-139397685-G-A c.5116C>T p.L1706F Missense 27/34 - 2
9-139397685-G-T c.5116C>A p.L1706I Missense 27/34 - 1
9-139397686-C-A c.5115G>T p.A1705= Synonymous 27/34 - 2
9-139397686-C-G c.5115G>C p.A1705= Synonymous 27/34 - 2
9-139397686-C-T c.5115G>A p.A1705= Synonymous 27/34 - 3
9-139397687-G-A c.5114C>T p.A1705V Missense 27/34 - 5
9-139397688-C-T c.5113G>A p.A1705T Missense 27/34 - 1
9-139397689-T-C c.5112A>G p.G1704= Synonymous 27/34 - 1
9-139397690-C-A c.5111G>T p.G1704V Missense 27/34 - 1
9-139397691-C-A c.5110G>T p.G1704* Nonsense 27/34 - 3
9-139397691-C-G c.5110G>C p.G1704R Missense 27/34 - 1
9-139397691-C-T c.5110G>A p.G1704R Missense 27/34 - 1
9-139397692-C-T c.5109G>A p.L1703= Synonymous 27/34 - 1
9-139397695-G-A c.5106C>T p.F1702= Synonymous 27/34 - 2
9-139397696-A-G c.5105T>C p.F1702S Missense 27/34 - 4
9-139397698-T-C c.5103A>G p.A1701= Synonymous 27/34 - 1
9-139397700-C-A c.5101G>T p.A1701S Missense 27/34 - 2
9-139397700-C-G c.5101G>C p.A1701P Missense 27/34 - 12
9-139397700-C-T c.5101G>A p.A1701T Missense 27/34 - 8
9-139397702-G-A c.5099C>T p.A1700V Missense 27/34 - 2
9-139397702-G-T c.5099C>A p.A1700D Missense 27/34 - 4
9-139397703-C-G c.5098G>C p.A1700P Missense 27/34 - 4
9-139397703-C-T c.5098G>A p.A1700T Missense 27/34 - 10
9-139397704-C-A c.5097G>T p.V1699= Synonymous 27/34 - 1
9-139397705-AC-TG c.5095_5096delinsCA p.V1699Q Missense 27/34 - 1
9-139397705-A-T c.5096T>A p.V1699E Missense 27/34 - 1
9-139397706-C-T c.5095G>A p.V1699M Missense 27/34 - 2
9-139397707-G-A c.5094C>T p.D1698= Synonymous 27/34 - 51
9-139397708-T-C c.5093A>G p.D1698G Missense 27/34 - 1
9-139397709-C-T c.5092G>A p.D1698N Missense 27/34 - 5
9-139397711-G-C c.5090C>G p.T1697S Missense 27/34 - 1
9-139397712-T-A c.5089A>T p.T1697S Missense 27/34 - 1
9-139397712-T-G c.5089A>C p.T1697P Missense 27/34 - 1
9-139397714-G-A c.5087C>T p.A1696V Missense 27/34 - 5
9-139397714-G-T c.5087C>A p.A1696D Missense 27/34 - 7
9-139397715-C-A c.5086G>T p.A1696S Missense 27/34 - 1
9-139397716-A-G c.5085T>C p.S1695= Synonymous 27/34 - 1
9-139397717-C-A c.5084G>T p.S1695I Missense 27/34 - 1
9-139397717-C-T c.5084G>A p.S1695N Missense 27/34 - 2
9-139397719-C-A c.5082G>T p.Q1694H Missense 27/34 - 1
9-139397719-C-G c.5082G>C p.Q1694H Missense 27/34 - 1
9-139397719-CTG-GAT c.5080_5082delinsATC p.Q1694I Missense 27/34 - 1
9-139397719-TCTG-T c.5080_5082del p.Q1694del InFrameDeletion 27/34 - 1
9-139397720-T-C c.5081A>G p.Q1694R Missense 27/34 - 8
9-139397721-G-A c.5080C>T p.Q1694* Nonsense 27/34 - 4
9-139397720-T-TG c.5080dup p.Q1694Pfs*31 Frameshift 27/34 - 1
9-139397723-A-G c.5078T>C p.F1693S Missense 27/34 - 1
9-139397723-A-T c.5078T>A p.F1693Y Missense 27/34 - 1
9-139397725-G-C c.5076C>G p.C1692W Missense 27/34 - 1
9-139397726-C-A c.5075G>T p.C1692F Missense 27/34 - 1
9-139397727-A-G c.5074T>C p.C1692R Missense 27/34 - 3
9-139397727-A-T c.5074T>A p.C1692S Missense 27/34 - 1
9-139397728-C-A c.5073G>T p.Q1691H Missense 27/34 - 1
9-139397728-C-G c.5073G>C p.Q1691H Missense 27/34 - 3
9-139397728-C-T c.5073G>A p.Q1691= Synonymous 27/34 - 8
9-139397728-C-CTAGTGCTTCCAGAG c.5072_5073insCTCTGGAAGCACTA p.Q1691Hfs*112 Frameshift 27/34 - 1
9-139397729-T-C c.5072A>G p.Q1691R Missense 27/34 - 1
9-139397730-G-A c.5071C>T p.Q1691* Nonsense 27/34 - 3
9-139397731-C-A c.5070G>T p.S1690= Synonymous 27/34 - 1
9-139397731-C-G c.5070G>C p.S1690= Synonymous 27/34 - 1
9-139397731-C-T c.5070G>A p.S1690= Synonymous 27/34 - 1
9-139397732-G-A c.5069C>T p.S1690L Missense 27/34 - 7
9-139397736-A-G c.5065T>C p.S1689P Missense 27/34 - 2
9-139397738-G-A c.5063C>T p.A1688V Missense 27/34 - 3
9-139397739-C-T c.5062G>A p.A1688T Missense 27/34 - 2
9-139397740-C-A c.5061G>T p.Q1687H Missense 27/34 - 1
9-139397740-C-G c.5061G>C p.Q1687H Missense 27/34 - 1
9-139397742-G-A c.5059C>T p.Q1687* Nonsense 27/34 - 4
9-139397743-CAC-GAT c.5056_5058delinsATC p.V1686I Missense 27/34 - 1
9-139397744-A-G c.5057T>C p.V1686A Missense 27/34 - 1
9-139397744-A-T c.5057T>A p.V1686E Missense 27/34 - 1
9-139397745-C-A c.5056G>T p.V1686L Missense 27/34 - 2
9-139397745-C-T c.5056G>A p.V1686M Missense 27/34 - 3
9-139397746-A-G c.5055T>C p.C1685= Synonymous 27/34 - 1
9-139397746-A-T c.5055T>A p.C1685* Nonsense 27/34 - 5
9-139397747-C-A c.5054G>T p.C1685F Missense 27/34 - 2
9-139397747-C-T c.5054G>A p.C1685Y Missense 27/34 - 2
9-139397748-A-G c.5053T>C p.C1685R Missense 27/34 - 2
9-139397748-A-T c.5053T>A p.C1685S Missense 27/34 - 2
9-139397748-A-ACCTTTGACCCTCAAG c.5052_5053insCTTGAGGGTCAAAGG p.Q1684_C1685insLEGQR InFrameInsertion 27/34 - 1
9-139397749-C-A c.5052G>T p.Q1684H Missense 27/34 - 1
9-139397749-C-G c.5052G>C p.Q1684H Missense 27/34 - 1
9-139397751-G-A c.5050C>T p.Q1684* Nonsense 27/34 - 1
9-139397753-C-T c.5048G>A p.R1683Q Missense 27/34 - 1
9-139397754-G-A c.5047C>T p.R1683W Missense 27/34 - 6
9-139397754-G-T c.5047C>A p.R1683= Synonymous 27/34 - 1
9-139397755-G-A c.5046C>T p.N1682= Synonymous 27/34 - 1
9-139397756-T-C c.5045A>G p.N1682S Missense 27/34 - 1
9-139397757-T-C c.5044A>G p.N1682D Missense 27/34 - 1
9-139397759-T-C c.5042A>G p.D1681G Missense 27/34 - 2
9-139397760-C-T c.5041G>A p.D1681N Missense 27/34 - 4
9-139397761-A-G c.5040T>C p.I1680= Synonymous 27/34 - 2
9-139397761-A-T c.5040T>A p.I1680= Synonymous 27/34 - 1
9-139397762-A-C c.5039T>G p.I1680S Missense 27/34 - 6
9-139397762-A-G c.5039T>C p.I1680T Missense 27/34 - 5
9-139397762-A-T c.5039T>A p.I1680N Missense 27/34 - 23
9-139397764-C-A c.5037G>T p.E1679D Missense 27/34 - 2
9-139397764-C-G c.5037G>C p.E1679D Missense 27/34 - 2
9-139397766-C-A c.5035G>T p.E1679* Nonsense 27/34 - 4
9-139397766-C-T c.5035G>A p.E1679K Missense 27/34 - 1
9-139397767-C-A c.5034G>T p.L1678= Synonymous 27/34 - 3
9-139397767-C-G c.5034G>C p.L1678= Synonymous 27/34 - 2
9-139397767-C-T c.5034G>A p.L1678= Synonymous 27/34 - 2
9-139397769-G-A c.5032C>T p.L1678= Synonymous 27/34 - 2
9-139397768-A-C c.5033T>G p.L1678R Missense 27/34 - 1
9-139397768-A-G c.5033T>C p.L1678P Missense 27/34 - 57
9-139397768-A-T c.5033T>A p.L1678Q Missense 27/34 - 14
9-139397768-CA-C c.5033del p.L1678Rfs*120 Frameshift 27/34 - 1
9-139397770-G-C c.5031C>G p.Y1677* Nonsense 27/34 - 1
9-139397770-G-T c.5031C>A p.Y1677* Nonsense 27/34 - 1
9-139397771-T-C c.5030A>G p.Y1677C Missense 27/34 - 1
9-139397772-A-G c.5029T>C p.Y1677H Missense 27/34 - 1
9-139397772-A-T c.5029T>A p.Y1677N Missense 27/34 - 1
9-139397773-G-A c.5028C>T p.V1676= Synonymous 27/34 - 3
9-139397773-GAC-CAT c.5026_5028delinsATG p.V1676M Missense 27/34 - 1
9-139397773-G-C c.5028C>G p.V1676= Synonymous 27/34 - 2
9-139397773-G-T c.5028C>A p.V1676= Synonymous 27/34 - 2
9-139397774-A-G c.5027T>C p.V1676A Missense 27/34 - 1
9-139397774-A-T c.5027T>A p.V1676D Missense 27/34 - 13
9-139397772-AGAC-A c.5026_5028del p.V1676del InFrameDeletion 27/34 - 7
9-139397775-C-A c.5026G>T p.V1676F Missense 27/34 - 4
9-139397775-C-G c.5026G>C p.V1676L Missense 27/34 - 2
9-139397775-C-T c.5026G>A p.V1676I Missense 27/34 - 14
9-139397776-G-A c.5025C>T p.I1675= Synonymous 27/34 - 1
9-139397776-G-C c.5025C>G p.I1675M Missense 27/34 - 4
9-139397775-CGAT-C c.5023_5025del p.I1675del InFrameDeletion 27/34 - 1
9-139397777-A-G c.5024T>C p.I1675T Missense 27/34 - 1
9-139397777-A-T c.5024T>A p.I1675N Missense 27/34 - 2
9-139397779-G-A c.5022C>T p.S1674= Synonymous 27/34 - 1
9-139397779-G-C c.5022C>G p.S1674= Synonymous 27/34 - 1
9-139397779-G-T c.5022C>A p.S1674= Synonymous 27/34 - 1
9-139397780-G-A c.5021C>T p.S1674F Missense 27/34 - 3
9-139397780-G-C c.5021C>G p.S1674C Missense 27/34 - 1
9-139397781-A-G c.5020T>C p.S1674P Missense 27/34 - 2
9-139397795-T-C c.5019-13A>G - IntronicSNV - 26/33 1
9-139397833-G-A c.5019-51C>T - IntronicSNV - 26/33 1
9-139399070-G-A c.5018+55C>T - IntronicSNV - 26/33 6
9-139399070-G-C c.5018+55C>G - IntronicSNV - 26/33 5
9-139399109-G-A c.5018+16C>T - IntronicSNV - 26/33 1
9-139399112-G-A c.5018+13C>T - IntronicSNV - 26/33 1
9-139399125-C-A c.5018G>T p.G1673V Missense 26/34 - 1
9-139399126-C-G c.5017G>C p.G1673R Missense 26/34 - 1
9-139399126-C-T c.5017G>A p.G1673S Missense 26/34 - 2
9-139399128-C-T c.5015G>A p.R1672H Missense 26/34 - 7
9-139399128-GC-G c.5015del p.R1672Pfs*126 Frameshift 26/34 - 1
9-139399129-G-A c.5014C>T p.R1672C Missense 26/34 - 2
9-139399130-G-A c.5013C>T p.V1671= Synonymous 26/34 - 1
9-139399132-C-T c.5011G>A p.V1671I Missense 26/34 - 19
9-139399133-G-A c.5010C>T p.D1670= Synonymous 26/34 - 3
9-139399135-C-A c.5008G>T p.D1670Y Missense 26/34 - 1
9-139399136-C-A c.5007G>T p.M1669I Missense 26/34 - 1
9-139399136-C-G c.5007G>C p.M1669I Missense 26/34 - 1
9-139399136-C-T c.5007G>A p.M1669I Missense 26/34 - 1
9-139399137-A-C c.5006T>G p.M1669R Missense 26/34 - 1
9-139399137-A-G c.5006T>C p.M1669T Missense 26/34 - 1
9-139399142-G-C c.5001C>G p.D1667E Missense 26/34 - 1
9-139399142-G-T c.5001C>A p.D1667E Missense 26/34 - 1
9-139399143-T-C c.5000A>G p.D1667G Missense 26/34 - 1
9-139399145-C-A c.4998G>T p.L1666= Synonymous 26/34 - 1
9-139399145-C-G c.4998G>C p.L1666= Synonymous 26/34 - 1
9-139399145-C-T c.4998G>A p.L1666= Synonymous 26/34 - 1
9-139399147-G-A c.4996C>T p.L1666= Synonymous 26/34 - 1
9-139399149-T-C c.4994A>G p.E1665G Missense 26/34 - 1
9-139399150-C-A c.4993G>T p.E1665* Nonsense 26/34 - 1
9-139399152-C-A c.4991G>T p.R1664M Missense 26/34 - 1
9-139399152-C-T c.4991G>A p.R1664K Missense 26/34 - 1
9-139399152-CT-TA c.4990_4991delinsTA p.R1664* Nonsense 26/34 - 1
9-139399152-CT-TG c.4990_4991delinsCA p.R1664Q Missense 26/34 - 1
9-139399153-T-C c.4990A>G p.R1664G Missense 26/34 - 3
9-139399154-CCG-ACA c.4987_4989delinsTGT p.R1663C Missense 26/34 - 1
9-139399155-C-T c.4988G>A p.R1663Q Missense 26/34 - 2
9-139399154-C-A c.4989G>T p.R1663= Synonymous 26/34 - 1
9-139399154-C-G c.4989G>C p.R1663= Synonymous 26/34 - 1
9-139399154-C-T c.4989G>A p.R1663= Synonymous 26/34 - 1
9-139399156-G-A c.4987C>T p.R1663W Missense 26/34 - 2
9-139399156-G-T c.4987C>A p.R1663= Synonymous 26/34 - 1
9-139399157-CCG-ACA c.4984_4986delinsTGT p.R1662C Missense 26/34 - 1
9-139399158-C-A c.4985G>T p.R1662L Missense 26/34 - 4
9-139399158-C-T c.4985G>A p.R1662Q Missense 26/34 - 3
9-139399159-G-A c.4984C>T p.R1662W Missense 26/34 - 5
9-139399161-C-T c.4982G>A p.R1661Q Missense 26/34 - 5
9-139399162-G-A c.4981C>T p.R1661W Missense 26/34 - 3
9-139399163-CCC-ACA c.4978_4980delinsTGT p.G1660C Missense 26/34 - 1
9-139399163-C-T c.4980G>A p.G1660= Synonymous 26/34 - 1
9-139399164-C-A c.4979G>T p.G1660V Missense 26/34 - 1
9-139399164-C-T c.4979G>A p.G1660E Missense 26/34 - 2
9-139399166-A-C c.4977T>G p.G1659= Synonymous 26/34 - 1
9-139399166-ACC-TCA c.4975_4977delinsTGA p.G1659* Nonsense 26/34 - 1
9-139399167-C-T c.4976G>A p.G1659D Missense 26/34 - 3
9-139399168-C-A c.4975G>T p.G1659C Missense 26/34 - 1
9-139399171-C-T c.4972G>A p.E1658K Missense 26/34 - 2
9-139399172-G-C c.4971C>G p.S1657R Missense 26/34 - 3
9-139399172-G-T c.4971C>A p.S1657R Missense 26/34 - 3
9-139399174-T-G c.4969A>C p.S1657R Missense 26/34 - 4
9-139399176-C-A c.4967G>T p.G1656V Missense 26/34 - 2
9-139399177-C-T c.4966G>A p.G1656S Missense 26/34 - 3
9-139399178-A-C c.4965T>G p.G1655= Synonymous 26/34 - 1
9-139399178-A-G c.4965T>C p.G1655= Synonymous 26/34 - 1
9-139399178-A-T c.4965T>A p.G1655= Synonymous 26/34 - 1
9-139399179-C-G c.4964G>C p.G1655A Missense 26/34 - 1
9-139399179-C-T c.4964G>A p.G1655D Missense 26/34 - 1
9-139399182-G-A c.4961C>T p.P1654L Missense 26/34 - 1
9-139399183-G-A c.4960C>T p.P1654S Missense 26/34 - 3
9-139399181-A-AG c.4961dup p.G1655Wfs*27 Frameshift 26/34 - 1
9-139399184-G-A c.4959C>T p.L1653= Synonymous 26/34 - 4
9-139399185-A-G c.4958T>C p.L1653P Missense 26/34 - 1
9-139399189-G-GC c.4953dup p.L1652Afs*30 Frameshift 26/34 - 1
9-139399190-C-A c.4953G>T p.S1651= Synonymous 26/34 - 3
9-139399190-C-G c.4953G>C p.S1651= Synonymous 26/34 - 2
9-139399190-C-T c.4953G>A p.S1651= Synonymous 26/34 - 2
9-139399191-G-A c.4952C>T p.S1651L Missense 26/34 - 13
9-139399192-A-C c.4951T>G p.S1651A Missense 26/34 - 1
9-139399193-G-A c.4950C>T p.A1650= Synonymous 26/34 - 1
9-139399193-G-C c.4950C>G p.A1650= Synonymous 26/34 - 1
9-139399193-G-T c.4950C>A p.A1650= Synonymous 26/34 - 1
9-139399194-G-A c.4949C>T p.A1650V Missense 26/34 - 1
9-139399194-G-T c.4949C>A p.A1650D Missense 26/34 - 3
9-139399195-C-T c.4948G>A p.A1650T Missense 26/34 - 3
9-139399196-C-A c.4947G>T p.K1649N Missense 26/34 - 1
9-139399201-C-T c.4942G>A p.V1648M Missense 26/34 - 1
9-139399203-T-G c.4940A>C p.Q1647P Missense 26/34 - 1
9-139399204-G-A c.4939C>T p.Q1647* Nonsense 26/34 - 4
9-139399203-TG-T c.4939del p.Q1647Rfs*2 Frameshift 26/34 - 1
9-139399205-G-A c.4938C>T p.G1646= Synonymous 26/34 - 1
9-139399206-C-T c.4937G>A p.G1646D Missense 26/34 - 1
9-139399211-C-A c.4932G>T p.L1644= Synonymous 26/34 - 1
9-139399211-C-G c.4932G>C p.L1644= Synonymous 26/34 - 1
9-139399211-C-T c.4932G>A p.L1644= Synonymous 26/34 - 1
9-139399213-G-A c.4930C>T p.L1644= Synonymous 26/34 - 4
9-139399212-AG-A c.4930del p.L1644Cfs*5 Frameshift 26/34 - 1
9-139399215-G-A c.4928C>T p.A1643V Missense 26/34 - 1
9-139399216-C-T c.4927G>A p.A1643T Missense 26/34 - 2
9-139399217-G-A c.4926C>T p.D1642= Synonymous 26/34 - 2
9-139399218-T-G c.4925A>C p.D1642A Missense 26/34 - 1
9-139399219-C-G c.4924G>C p.D1642H Missense 26/34 - 3
9-139399220-A-C c.4923T>G p.P1641= Synonymous 26/34 - 1
9-139399220-A-G c.4923T>C p.P1641= Synonymous 26/34 - 1
9-139399220-A-T c.4923T>A p.P1641= Synonymous 26/34 - 1
9-139399221-G-A c.4922C>T p.P1641L Missense 26/34 - 1
9-139399222-G-A c.4921C>T p.P1641S Missense 26/34 - 6
9-139399225-C-A c.4918G>T p.A1640S Missense 26/34 - 2
9-139399225-C-G c.4918G>C p.A1640P Missense 26/34 - 2
9-139399225-C-T c.4918G>A p.A1640T Missense 26/34 - 7
9-139399226-G-A c.4917C>T p.A1639= Synonymous 26/34 - 2
9-139399226-G-C c.4917C>G p.A1639= Synonymous 26/34 - 2
9-139399226-G-T c.4917C>A p.A1639= Synonymous 26/34 - 2
9-139399227-G-A c.4916C>T p.A1639V Missense 26/34 - 1
9-139399228-C-T c.4915G>A p.A1639T Missense 26/34 - 3
9-139399229-C-T c.4914G>A p.W1638* Nonsense 26/34 - 4
9-139399230-C-T c.4913G>A p.W1638* Nonsense 26/34 - 6
9-139399231-A-C c.4912T>G p.W1638G Missense 26/34 - 1
9-139399233-C-A c.4910G>T p.G1637V Missense 26/34 - 3
9-139399233-C-T c.4910G>A p.G1637D Missense 26/34 - 1
9-139399234-C-A c.4909G>T p.G1637C Missense 26/34 - 1
9-139399234-C-G c.4909G>C p.G1637R Missense 26/34 - 1
9-139399235-C-G c.4908G>C p.E1636D Missense 26/34 - 1
9-139399236-T-G c.4907A>C p.E1636A Missense 26/34 - 2
9-139399237-C-T c.4906G>A p.E1636K Missense 26/34 - 17
9-139399237-TC-T c.4906del p.E1636Rfs*13 Frameshift 26/34 - 1
9-139399238-CGGCGGCACGCTTGATGGGGTGCTTGCGCAGCTCCTCCTCGCGGCCGTAGTAGGGGAAGA-C c.4847_4905del p.I1616Rfs*7 InFrameDeletion 26/34 - 1
9-139399238-G-A c.4905C>T p.A1635= Synonymous 26/34 - 1
9-139399238-G-C c.4905C>G p.A1635= Synonymous 26/34 - 1
9-139399238-G-T c.4905C>A p.A1635= Synonymous 26/34 - 1
9-139399239-G-A c.4904C>T p.A1635V Missense 26/34 - 4
9-139399239-G-C c.4904C>G p.A1635G Missense 26/34 - 1
9-139399239-G-GC c.4903dup p.A1635Gfs*8 Frameshift 26/34 - 1
9-139399240-C-G c.4903G>C p.A1635P Missense 26/34 - 1
9-139399240-C-T c.4903G>A p.A1635T Missense 26/34 - 2
9-139399242-G-T c.4901C>A p.A1634D Missense 26/34 - 2
9-139399243-C-A c.4900G>T p.A1634S Missense 26/34 - 2