NOTCH1 notch receptor 1

Annotation transcript: NM_017617.5

2507 unique variant annotations were identified in 1013 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 - 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 - 10
9-139390509-G-A c.*14C>T - 3-UTRSNV 34/34 - 1
9-139390509-G-C c.*14C>G - 3-UTRSNV 34/34 - 1
9-139390509-G-T c.*14C>A - 3-UTRSNV 34/34 - 1
9-139390517-C-T c.*6G>A - 3-UTRSNV 34/34 - 1
9-139390532-G-T c.7659C>A p.A2553= Synonymous 34/34 - 1
9-139390532-G-C c.7659C>G p.A2553= Synonymous 34/34 - 1
9-139390532-G-A c.7659C>T p.A2553= Synonymous 34/34 - 1
9-139390539-G-A c.7652C>T p.P2551L Missense 34/34 - 1
9-139390538-CG-C c.7652del p.P2551Rfs*38 Frameshift 34/34 - 1
9-139390543-T-C c.7648A>G p.I2550V Missense 34/34 - 1
9-139390546-G-A c.7645C>T p.R2549C Missense 34/34 - 2
9-139390549-C-T c.7642G>A p.A2548T Missense 34/34 - 1
9-139390577-G-A c.7614C>T p.S2538= Synonymous 34/34 - 1
9-139390578-CT-GC c.7612_7613delinsGC p.S2538A Missense 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
9-139390584-A-T c.7607T>A p.V2536D Missense 34/34 - 1
9-139390584-A-G c.7607T>C p.V2536A Missense 34/34 - 1
9-139390585-C-T c.7606G>A p.V2536I Missense 34/34 - 2
9-139390587-C-T c.7604G>A p.G2535D Missense 34/34 - 2
9-139390588-C-A c.7603G>T p.G2535C Missense 34/34 - 1
9-139390589-C-A c.7602G>T p.E2534D Missense 34/34 - 1
9-139390590-T-C c.7601A>G p.E2534G Missense 34/34 - 1
9-139390591-C-T c.7600G>A p.E2534K Missense 34/34 - 2
9-139390592-G-A c.7599C>T p.S2533= Synonymous 34/34 - 1
9-139390596-C-A c.7595G>T p.W2532L Missense 34/34 - 1
9-139390602-G-A c.7589C>T p.S2530F Missense 34/34 - 1
9-139390611-G-T c.7580C>A p.S2527Y Missense 34/34 - 1
9-139390612-A-C c.7579T>G p.S2527A Missense 34/34 - 1
9-139390616-C-CG c.7574dup p.H2526Afs*80 Frameshift 34/34 - 1
9-139390620-GGA-G c.7570_7571del p.S2524Pfs*81 Frameshift 34/34 - 1
9-139390620-G-A c.7571C>T p.S2524F Missense 34/34 - 1
9-139390622-C-G c.7569G>C p.S2523= Synonymous 34/34 - 1
9-139390623-G-A c.7568C>T p.S2523L 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
9-139390627-T-G c.7564A>C p.S2522R Missense 34/34 - 1
9-139390627-T-C c.7564A>G p.S2522G Missense 34/34 - 1
9-139390627-T-A c.7564A>T p.S2522C Missense 34/34 - 1
9-139390632-C-T c.7559G>A p.W2520* Nonsense 34/34 - 1
9-139390631-C-T c.7560G>A p.W2520* Nonsense 34/34 - 1
9-139390636-G-T c.7555C>A p.Q2519K Missense 34/34 - 1
9-139390636-G-A c.7555C>T p.Q2519* Nonsense 34/34 - 3
9-139390637-GGTCAGGGGAC-G c.7545_7554del p.E2515Dfs*71 Frameshift 34/34 - 1
9-139390640-AGG-TTA c.7549_7551delinsTAA p.P2517* Nonsense 34/34 - 1
9-139390641-AGGGGACTC-A c.7543_7550del p.E2515* Frameshift 34/34 - 1
9-139390644-G-A c.7547C>T p.S2516F Missense 34/34 - 2
9-139390645-A-C c.7546T>G p.S2516A Missense 34/34 - 1
9-139390645-A-G c.7546T>C p.S2516P Missense 34/34 - 1
9-139390647-T-A c.7544A>T p.E2515V Missense 34/34 - 1
9-139390648-C-A c.7543G>T p.E2515* Nonsense 34/34 - 1
9-139390648-TCAG-T c.7541_7543del p.P2514_E2515delinsQ MultiAAMissense 34/34 - 1
9-139390649-CAG-C c.7541_7542del p.P2514Rfs*4 Frameshift 34/34 - 43
9-139390649-CAGG-C c.7540_7542del p.P2514del InFrameDeletion 34/34 - 1
9-139390650-G-T c.7541C>A p.P2514H Missense 34/34 - 1
9-139390650-G-A c.7541C>T p.P2514L Missense 34/34 - 2
9-139390650-G-C c.7541C>G p.P2514R Missense 34/34 - 3
9-139390650-GG-AA c.7540_7541delinsTT p.P2514F 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 - 1
9-139390649-AGGGGACGGGGT-A c.7531_7541del p.T2511* Frameshift 34/34 - 1
9-139390649-AGG-A c.7540_7541del p.P2514* Frameshift 34/34 - 3
9-139390649-AG-A c.7541del p.P2514Lfs*75 Frameshift 34/34 - 3
9-139390649-A-AG c.7541dup p.E2515* Nonsense 34/34 - 2
9-139390653-G-A c.7538C>T p.S2513F Missense 34/34 - 2
9-139390654-A-C c.7537T>G p.S2513A Missense 34/34 - 1
9-139390656-G-C c.7535C>G p.P2512R Missense 34/34 - 1
9-139390656-G-A c.7535C>T p.P2512L Missense 34/34 - 3
9-139390658-GGT-TTA c.7531_7533delinsTAA p.T2511* Nonsense 34/34 - 1
9-139390655-CGGGGTGA-C c.7529_7535del p.L2510Rfs*77 Frameshift 34/34 - 1
9-139390659-GT-AC c.7531_7532inv p.T2511V Missense 34/34 - 1
9-139390660-T-C c.7531A>G p.T2511A Missense 34/34 - 1
9-139390660-T-G c.7531A>C p.T2511P Missense 34/34 - 1
9-139390660-T-TTA c.7530_7531insTA p.T2511* Nonsense 34/34 - 1
9-139390662-A-G c.7529T>C p.L2510P Missense 34/34 - 1
9-139390665-AA-GG c.7525_7526delinsCC p.F2509P Missense 34/34 - 1
9-139390664-G-GA c.7526dup p.L2510Pfs*6 Frameshift 34/34 - 1
9-139390668-G-A c.7523C>T p.P2508L Missense 34/34 - 1
9-139390671-T-A c.7520A>T p.H2507L Missense 34/34 - 1
9-139390673-C-G c.7518G>C p.E2506D Missense 34/34 - 1
9-139390673-C-A c.7518G>T p.E2506D Missense 34/34 - 1
9-139390675-C-A c.7516G>T p.E2506* Nonsense 34/34 - 1
9-139390681-C-G c.7510G>C p.V2504L Missense 34/34 - 1
9-139390681-C-A c.7510G>T p.V2504L Missense 34/34 - 1
9-139390683-T-G c.7508A>C p.Q2503P Missense 34/34 - 1
9-139390684-G-A c.7507C>T p.Q2503* Nonsense 34/34 - 9
9-139390682-CTG-C c.7507_7508del p.Q2503Gfs*3 Frameshift 34/34 - 1
9-139390687-G-C c.7504C>G p.L2502V Missense 34/34 - 1
9-139390690-G-A c.7501C>T p.Q2501* Nonsense 34/34 - 5
9-139390691-G-T c.7500C>A p.H2500Q Missense 34/34 - 1
9-139390691-G-C c.7500C>G p.H2500Q Missense 34/34 - 1
9-139390694-G-GGGA c.7496_7497insTCC p.S2499_H2500insP InFrameInsertion 34/34 - 1
9-139390701-G-A c.7490C>T p.T2497I Missense 34/34 - 2
9-139390696-TG-T c.7494del p.S2499Afs*90 Frameshift 34/34 - 1
9-139390701-GTGT-G c.7487_7489del p.N2496del InFrameDeletion 34/34 - 1
9-139390716-G-T c.7475C>A p.S2492* Nonsense 34/34 - 6
9-139390716-G-A c.7475C>T p.S2492L Missense 34/34 - 1
9-139390719-G-T c.7472C>A p.S2491Y Missense 34/34 - 1
9-139390721-G-T c.7470C>A p.Y2490* Nonsense 34/34 - 2
9-139390721-G-C c.7470C>G p.Y2490* Nonsense 34/34 - 2
9-139390726-TGTGCTGC-T c.7458_7464del p.Q2487Afs*100 Frameshift 34/34 - 1
9-139390732-G-A c.7459C>T p.Q2487* Nonsense 34/34 - 8
9-139390733-C-CATGCGGCTAGACGCCT c.7457_7458insAGGCGTCTAGCCGCAT p.Q2487Gfs*3 Frameshift 34/34 - 1
9-139390734-G-A c.7457C>T p.S2486L Missense 34/34 - 2
9-139390734-G-T c.7457C>A p.S2486* Nonsense 34/34 - 2
9-139390735-A-G c.7456T>C p.S2486P 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 - 2
9-139390743-G-A c.7448C>T p.T2483M Missense 34/34 - 4
9-139390743-G-T c.7448C>A p.T2483K Missense 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 - 1
9-139390746-AG-A c.7444del p.L2482* Frameshift 34/34 - 1
9-139390750-A-G c.7441T>C p.F2481L Missense 34/34 - 1
9-139390748-GA-G c.7442del p.F2481Sfs*2 Frameshift 34/34 - 1
9-139390755-G-T c.7436C>A p.A2479D Missense 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 - 1
9-139390764-A-G c.7427T>C p.V2476A Missense 34/34 - 1
9-139390764-AC-TA c.7426_7427delinsTA p.V2476* Nonsense 34/34 - 1
9-139390765-C-T c.7426G>A p.V2476M Missense 34/34 - 1
9-139390766-GGG-TTA c.7423_7425delinsTAA p.P2475* Nonsense 34/34 - 1
9-139390769-T-C c.7422A>G p.P2474= Synonymous 34/34 - 1
9-139390771-G-T c.7420C>A p.P2474T Missense 34/34 - 1
9-139390774-C-T c.7417G>A p.V2473I Missense 34/34 - 1
9-139390779-G-T c.7412C>A p.S2471* Nonsense 34/34 - 2
9-139390780-GA-G c.7411del p.S2471Rfs*6 Frameshift 34/34 - 1
9-139390780-AG-A c.7410del p.S2471Rfs*6 Frameshift 34/34 - 1
9-139390783-GA-G c.7408del p.S2470Pfs*7 Frameshift 34/34 - 1
9-139390784-ATGGCAGCGAC-A c.7398_7407del p.S2467Pfs*7 Frameshift 34/34 - 1
9-139390785-G-A c.7406C>T p.P2469L Missense 34/34 - 1
9-139390788-A-G c.7403T>C p.L2468P Missense 34/34 - 1
9-139390788-A-ACC c.7402_7403insGG p.L2468Rfs*10 Frameshift 34/34 - 1
9-139390790-C-CTT c.7400_7401insAA p.L2468Sfs*10 Frameshift 34/34 - 1
9-139390790-CG-AT c.7400_7401delinsAT p.S2467Y Missense 34/34 - 1
9-139390791-G-T c.7400C>A p.S2467* Nonsense 34/34 - 7
9-139390794-CG-C c.7397del p.T2466Sfs*11 Frameshift 34/34 - 3
9-139390794-G-A c.7397C>T p.T2466M Missense 34/34 - 2
9-139390795-T-C c.7396A>G p.T2466A Missense 34/34 - 1
9-139390795-TG-T c.7395del p.T2466Rfs*11 Frameshift 34/34 - 2
9-139390798-G-GGC c.7392_7393insGC p.P2465Afs*13 Frameshift 34/34 - 1
9-139390800-A-T c.7391T>A p.L2464Q Missense 34/34 - 1
9-139390800-AG-A c.7390del p.L2464Cfs*13 Frameshift 34/34 - 1
9-139390804-C-G c.7387G>C p.A2463P Missense 34/34 - 1
9-139390804-GC-G c.7387del p.A2463Pfs*14 Frameshift 34/34 - 2
9-139390804-C-T c.7387G>A p.A2463T Missense 34/34 - 1
9-139390805-G-A c.7386C>T p.P2462= Synonymous 34/34 - 1
9-139390807-G-A c.7384C>T p.P2462S Missense 34/34 - 1
9-139390809-C-A c.7382G>T p.S2461I Missense 34/34 - 1
9-139390813-C-A c.7378G>T p.E2460* Nonsense 34/34 - 5
9-139390816-G-A c.7375C>T p.Q2459* Nonsense 34/34 - 7
9-139390816-G-T c.7375C>A p.Q2459K Missense 34/34 - 1
9-139390817-G-A c.7374C>T p.P2458= Synonymous 34/34 - 1
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 - 9
9-139390822-G-GTA c.7368_7369insTA p.L2457Yfs*21 Frameshift 34/34 - 1
9-139390822-GAAT-G c.7366_7368del p.I2456del InFrameDeletion 34/34 - 1
9-139390825-ATAGTGTG-A c.7360_7366del p.H2454Ffs*21 Frameshift 34/34 - 1
9-139390832-C-T c.7359G>A p.V2453= Synonymous 34/34 - 1
9-139390832-C-G c.7359G>C p.V2453= Synonymous 34/34 - 1
9-139390832-C-A c.7359G>T p.V2453= Synonymous 34/34 - 1
9-139390834-C-T c.7357G>A p.V2453M Missense 34/34 - 1
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 - 1
9-139390836-G-T c.7355C>A p.A2452E Missense 34/34 - 1
9-139390834-CCGCCAGG-C c.7350_7356del p.S2450Rfs*25 Frameshift 34/34 - 1
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
9-139390847-G-A c.7344C>T p.P2448= Synonymous 34/34 - 1
9-139390848-G-A c.7343C>T p.P2448L Missense 34/34 - 1
9-139390854-AGTGGCTGCAC-A c.7327_7336del p.V2443Wfs*31 Frameshift 34/34 - 1
9-139390856-TGGCTGCACGTCTGCCTGGCTCG-T c.7313_7334del p.P2438Hfs*32 Frameshift 34/34 - 2
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 - 8
9-139390864-C-G c.7327G>C p.V2443L Missense 34/34 - 3
9-139390864-C-A c.7327G>T p.V2443L Missense 34/34 - 3
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
9-139390869-G-A c.7322C>T p.A2441V Missense 34/34 - 1
9-139390870-C-T c.7321G>A p.A2441T Missense 34/34 - 1
9-139390873-G-A c.7318C>T p.Q2440* Nonsense 34/34 - 5
9-139390870-CCTGG-C c.7317_7320del p.S2439Rfs*37 Frameshift 34/34 - 1
9-139390877-C-A c.7314G>T p.P2438= Synonymous 34/34 - 1
9-139390877-C-T c.7314G>A p.P2438= Synonymous 34/34 - 1
9-139390877-C-G c.7314G>C p.P2438= Synonymous 34/34 - 1
9-139390878-G-A c.7313C>T p.P2438L Missense 34/34 - 1
9-139390879-G-A c.7312C>T p.P2438S Missense 34/34 - 1
9-139390885-C-T c.7306G>A p.G2436R Missense 34/34 - 1
9-139390885-C-G c.7306G>C p.G2436R Missense 34/34 - 1
9-139390885-C-A c.7306G>T p.G2436* Nonsense 34/34 - 2
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
9-139390895-G-C c.7296C>G p.S2432R Missense 34/34 - 1
9-139390895-G-T c.7296C>A p.S2432R Missense 34/34 - 1
9-139390897-T-G c.7294A>C p.S2432R Missense 34/34 - 1
9-139390897-CT-C c.7294del p.S2432Afs*3 Frameshift 34/34 - 1
9-139390899-C-T c.7292G>A p.R2431Q Missense 34/34 - 1
9-139390899-CG-C c.7291del p.R2431Gfs*4 Frameshift 34/34 - 1
9-139390902-C-G c.7289G>C p.G2430A Missense 34/34 - 2
9-139390901-GC-G c.7289del p.G2430Afs*5 Frameshift 34/34 - 1
9-139390906-G-C c.7285C>G p.L2429V Missense 34/34 - 1
9-139390907-G-T c.7284C>A p.H2428Q Missense 34/34 - 1
9-139390907-G-C c.7284C>G p.H2428Q Missense 34/34 - 1
9-139390908-GT-G c.7283del p.H2428Pfs*7 Frameshift 34/34 - 1
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
9-139390917-G-T c.7274C>A p.A2425D Missense 34/34 - 1
9-139390918-C-T c.7273G>A p.A2425T Missense 34/34 - 1
9-139390921-C-T c.7270G>A p.A2424T Missense 34/34 - 1
9-139390927-T-TGGTCC c.7263_7264insGGACC p.S2422Gfs*15 Frameshift 34/34 - 1
9-139390929-AC-TA c.7261_7262delinsTA p.V2421* Nonsense 34/34 - 1
9-139390930-AC-A c.7261del p.V2421* Frameshift 34/34 - 1
9-139390933-C-A c.7258G>T p.G2420C Missense 34/34 - 2
9-139390935-A-T c.7256T>A p.L2419H Missense 34/34 - 1
9-139390936-G-A c.7255C>T p.L2419F Missense 34/34 - 1
9-139390938-T-C c.7253A>G p.H2418R Missense 34/34 - 1
9-139390939-G-T c.7252C>A p.H2418N Missense 34/34 - 1
9-139390942-G-C c.7249C>G p.P2417A Missense 34/34 - 2
9-139390940-CGGCTGTG-C c.7244_7250del p.P2415Rfs*5 Frameshift 34/34 - 1
9-139390943-GC-G c.7248del p.Q2416Hfs*6 Frameshift 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 - 5
9-139390957-G-T c.7234C>A p.P2412T Missense 34/34 - 1
9-139390944-TGTG-T c.7244_7246del p.P2415del InFrameDeletion 34/34 - 7
9-139390959-G-A c.7232C>T p.P2411L Missense 34/34 - 1
9-139390962-G-A c.7229C>T p.P2410L Missense 34/34 - 2
9-139390965-T-C c.7226A>G p.Q2409R Missense 34/34 - 2
9-139390966-G-A c.7225C>T p.Q2409* Nonsense 34/34 - 5
9-139390967-CA-AT c.7223_7224delinsAT p.L2408H Missense 34/34 - 1
9-139390968-AG-A c.7222del p.L2408Cfs*14 Frameshift 34/34 - 1
9-139390975-G-A c.7216C>T p.Q2406* Nonsense 34/34 - 4
9-139390977-CT-C c.7214del p.Q2405Rfs*17 Frameshift 34/34 - 1
9-139390977-T-A c.7214A>T p.Q2405L Missense 34/34 - 1
9-139390978-G-A c.7213C>T p.Q2405* Nonsense 34/34 - 2
9-139390978-G-T c.7213C>A p.Q2405K Missense 34/34 - 1
9-139390981-G-A c.7210C>T p.Q2404* Nonsense 34/34 - 5
9-139390982-GC-G c.7209del p.Q2403Hfs*19 Frameshift 34/34 - 1
9-139390984-G-A c.7207C>T p.Q2403* Nonsense 34/34 - 4
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
9-139390993-C-T c.7198G>A p.A2400T Missense 34/34 - 1
9-139390999-G-A c.7192C>T p.Q2398* Nonsense 34/34 - 2
9-139391008-G-A c.7183C>T p.Q2395* Nonsense 34/34 - 1
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 - 4
9-139391013-T-C c.7178A>G p.Q2393R Missense 34/34 - 1
9-139391014-G-A c.7177C>T p.Q2393* Nonsense 34/34 - 3
9-139391019-T-A c.7172A>T p.Q2391L Missense 34/34 - 1
9-139391020-G-A c.7171C>T p.Q2391* Nonsense 34/34 - 5
9-139391034-T-C c.7157A>G p.Q2386R Missense 34/34 - 1
9-139391053-C-G c.7138G>C p.V2380L Missense 34/34 - 1
9-139391053-C-A c.7138G>T p.V2380L Missense 34/34 - 1
9-139391063-C-G c.7128G>C p.Q2376H Missense 34/34 - 1
9-139391067-G-A c.7124C>T p.T2375I Missense 34/34 - 1
9-139391076-C-T c.7115G>A p.R2372Q Missense 34/34 - 2
9-139391095-G-A c.7096C>T p.Q2366* Nonsense 34/34 - 1
9-139391101-T-C c.7090A>G p.S2364G Missense 34/34 - 1
9-139391102-C-T c.7089G>A p.M2363I Missense 34/34 - 1
9-139391105-C-G c.7086G>C p.M2362I Missense 34/34 - 1
9-139391105-C-T c.7086G>A p.M2362I Missense 34/34 - 2
9-139391105-C-A c.7086G>T p.M2362I Missense 34/34 - 2
9-139391112-G-A c.7079C>T p.S2360F Missense 34/34 - 1
9-139391122-T-C c.7069A>G p.S2357G Missense 34/34 - 1
9-139391124-G-C c.7067C>G p.A2356G Missense 34/34 - 1
9-139391132-G-C c.7059C>G p.S2353R Missense 34/34 - 1
9-139391140-G-A c.7051C>T p.H2351Y Missense 34/34 - 1
9-139391151-A-G c.7040T>C p.V2347A Missense 34/34 - 1
9-139391152-C-T c.7039G>A p.V2347I Missense 34/34 - 1
9-139391153-C-G c.7038G>C p.M2346I Missense 34/34 - 1
9-139391153-C-T c.7038G>A p.M2346I Missense 34/34 - 1
9-139391153-C-A c.7038G>T p.M2346I Missense 34/34 - 1
9-139391155-T-TTCATTTCC c.7035_7036insGGAAATGA p.M2346Gfs*5 Frameshift 34/34 - 1
9-139391179-G-A c.7012C>T p.Q2338* Nonsense 34/34 - 1
9-139391184-C-T c.7007G>A p.S2336N Missense 34/34 - 2
9-139391190-G-A c.7001C>T p.P2334L Missense 34/34 - 1
9-139391187-A-AG c.7003dup p.L2335Pfs*19 Frameshift 34/34 - 1
9-139391196-G-A c.6995C>T p.P2332L 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 - 1
9-139391200-C-T c.6991G>A p.A2331T Missense 34/34 - 1
9-139391200-CCA-C c.6989_6990del p.V2330Gfs*23 Frameshift 34/34 - 1
9-139391211-CGCAGAGGGTT-C c.6970_6979del p.N2324Gfs*9 Frameshift 34/34 - 1
9-139391219-G-T c.6972C>A p.N2324K Missense 34/34 - 1
9-139391219-G-A c.6972C>T p.N2324= Synonymous 34/34 - 1
9-139391231-C-A c.6960G>T p.P2320= Synonymous 34/34 - 1
9-139391231-C-T c.6960G>A p.P2320= Synonymous 34/34 - 1
9-139391231-C-G c.6960G>C p.P2320= Synonymous 34/34 - 1
9-139391232-G-C c.6959C>G p.P2320R Missense 34/34 - 1
9-139391234-GCACCA-G c.6953_6957del p.M2318Tfs*34 Frameshift 34/34 - 1
9-139391248-G-A c.6943C>T p.Q2315* Nonsense 34/34 - 1
9-139391250-A-G c.6941T>C p.L2314P Missense 34/34 - 1
9-139391253-C-T c.6938G>A p.R2313Q Missense 34/34 - 2
9-139391256-G-A c.6935C>T p.S2312F Missense 34/34 - 1
9-139391263-A-T c.6928T>A p.W2310R Missense 34/34 - 1
9-139391263-A-G c.6928T>C p.W2310R Missense 34/34 - 1
9-139391277-T-A c.6914A>T p.N2305I Missense 34/34 - 1
9-139391295-C-T c.6896G>A p.G2299D Missense 34/34 - 2
9-139391299-CAGTGA-C c.6887_6891del p.F2296Cfs*56 Frameshift 34/34 - 1
9-139391302-T-G c.6889A>C p.T2297P Missense 34/34 - 1
9-139391314-C-T c.6877G>A p.A2293T Missense 34/34 - 1
9-139391320-C-A c.6871G>T p.G2291* Nonsense 34/34 - 2
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
9-139391338-C-T c.6853G>A p.V2285I Missense 34/34 - 4
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 - 2
9-139391356-CCA-C c.6833_6834del p.V2278Gfs*75 Frameshift 34/34 - 1
9-139391361-G-A c.6830C>T p.P2277L Missense 34/34 - 1
9-139391360-AG-A c.6830del p.P2277Lfs*18 Frameshift 34/34 - 1
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
9-139391367-T-A c.6824A>T p.H2275L Missense 34/34 - 1
9-139391371-GAGAGACGAGGT-G c.6810_6820del p.R2272Pfs*78 Frameshift 34/34 - 1
9-139391369-GGA-G c.6820_6821del p.S2274Pfs*79 Frameshift 34/34 - 1
9-139391376-C-T c.6815G>A p.R2272H Missense 34/34 - 3
9-139391377-G-A c.6814C>T p.R2272C Missense 34/34 - 2
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 - 1
9-139391385-C-T c.6806G>A p.G2269D Missense 34/34 - 1
9-139391385-C-G c.6806G>C p.G2269A Missense 34/34 - 1
9-139391403-C-T c.6788G>A p.R2263Q Missense 34/34 - 8
9-139391407-C-T c.6784G>A p.G2262S Missense 34/34 - 1
9-139391422-C-T c.6769G>A p.A2257T Missense 34/34 - 1
9-139391424-G-A c.6767C>T p.A2256V Missense 34/34 - 1
9-139391436-T-C c.6755A>G p.K2252R Missense 34/34 - 1
9-139391440-C-T c.6751G>A p.A2251T Missense 34/34 - 1
9-139391443-C-T c.6748G>A p.A2250T Missense 34/34 - 1
9-139391456-CCC-GCT c.6733_6735delinsAGC p.G2245S Missense 34/34 - 1
9-139391458-C-T c.6733G>A p.G2245R Missense 34/34 - 4
9-139391464-C-T c.6727G>A p.G2243S Missense 34/34 - 1
9-139391476-C-T c.6715G>A p.D2239N Missense 34/34 - 1
9-139391484-C-T c.6707G>A p.G2236E Missense 34/34 - 1
9-139391484-CCAGG-C c.6703_6706del p.P2235Gfs*12 Frameshift 34/34 - 1
9-139391491-G-C c.6700C>G p.L2234V 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
9-139391503-G-A c.6688C>T p.P2230S Missense 34/34 - 1
9-139391506-C-T c.6685G>A p.V2229M Missense 34/34 - 2
9-139391518-G-A c.6673C>T p.Q2225* Nonsense 34/34 - 2
9-139391526-G-A c.6665C>T p.P2222L Missense 34/34 - 2
9-139391529-G-C c.6662C>G p.S2221C Missense 34/34 - 1
9-139391536-G-T c.6655C>A p.L2219M 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-T c.6648G>A p.P2216= Synonymous 34/34 - 2
9-139391547-G-A c.6644C>T p.S2215L Missense 34/34 - 1
9-139391548-A-C c.6643T>G p.S2215A Missense 34/34 - 1
9-139391555-G-T c.6636C>A p.D2212E Missense 34/34 - 1
9-139391559-G-C c.6632C>G p.S2211* Nonsense 34/34 - 1
9-139391566-A-G c.6625T>C p.Y2209H Missense 34/34 - 1
9-139391578-A-C c.6613T>G p.S2205A Missense 34/34 - 1
9-139391586-G-A c.6605C>T p.S2202F Missense 34/34 - 1
9-139391589-T-A c.6602A>T p.D2201V Missense 34/34 - 1
9-139391593-C-T c.6598G>A p.V2200M Missense 34/34 - 2
9-139391596-G-A c.6595C>T p.P2199S Missense 34/34 - 1
9-139391598-G-A c.6593C>T p.S2198L Missense 34/34 - 2
9-139391611-A-T c.6580T>A p.S2194T Missense 34/34 - 1
9-139391615-G-C c.6576C>G p.D2192E Missense 34/34 - 1
9-139391625-C-T c.6566G>A p.C2189Y Missense 34/34 - 1
9-139391628-C-T c.6563G>A p.G2188D Missense 34/34 - 1
9-139391629-C-A c.6562G>T p.G2188C Missense 34/34 - 1
9-139391634-C-A c.6557G>T p.G2186V Missense 34/34 - 1
9-139391635-C-T c.6556G>A p.G2186S Missense 34/34 - 1
9-139391636-G-A c.6555C>T p.D2185= Synonymous 34/34 - 10
9-139391643-G-T c.6548C>A p.S2183Y Missense 34/34 - 1
9-139391655-C-T c.6536G>A p.R2179Q Missense 34/34 - 1
9-139391656-G-A c.6535C>T p.R2179W Missense 34/34 - 1
9-139391659-C-T c.6532G>A p.A2178T Missense 34/34 - 1
9-139391665-G-A c.6526C>T p.L2176F Missense 34/34 - 1
9-139391680-T-A c.6511A>T p.K2171* Nonsense 34/34 - 1
9-139391688-C-T c.6503G>A p.C2168Y Missense 34/34 - 1
9-139391700-TTGC-T c.6488_6490del p.S2163del InFrameDeletion 34/34 - 1
9-139391710-G-A c.6481C>T p.P2161S Missense 34/34 - 3
9-139391715-C-T c.6476G>A p.R2159H Missense 34/34 - 1
9-139391719-C-T c.6472G>A p.V2158I Missense 34/34 - 1
9-139391725-T-A c.6466A>T p.K2156* Nonsense 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 - 1
9-139391734-C-T c.6457G>A p.V2153M Missense 34/34 - 3
9-139391742-T-C c.6449A>G p.K2150R Missense 34/34 - 1
9-139391747-GCTGCCCAGGTAGC-G c.6431_6443del p.G2144Afs*100 Frameshift 34/34 - 1
9-139391754-A-G c.6437T>C p.L2146P Missense 34/34 - 1
9-139391767-G-A c.6424C>T p.P2142S Missense 34/34 - 1
9-139391769-G-T c.6422C>A p.S2141* Nonsense 34/34 - 1
9-139391773-A-G c.6418T>C p.C2140R Missense 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 - 1
9-139391785-GA-G c.6406del p.S2136Rfs*112 Frameshift 34/34 - 1
9-139391793-G-A c.6398C>T p.P2133L Missense 34/34 - 1
9-139391796-G-A c.6395C>T p.T2132M Missense 34/34 - 1
9-139391799-C-A c.6392G>T p.G2131V Missense 34/34 - 1
9-139391798-GC-G c.6392del p.G2131Afs*117 Frameshift 34/34 - 1
9-139391805-A-T c.6386T>A p.L2129Q Missense 34/34 - 1
9-139391808-G-A c.6383C>T p.P2128L Missense 34/34 - 1
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 - 1
9-139391824-G-A c.6367C>T p.Q2123* Nonsense 34/34 - 2
9-139391826-G-A c.6365C>T p.P2122L Missense 34/34 - 4
9-139391832-C-T c.6359G>A p.R2120H Missense 34/34 - 1
9-139391840-G-T c.6351C>A p.N2117K Missense 34/34 - 3
9-139391840-G-C c.6351C>G p.N2117K Missense 34/34 - 1
9-139391841-T-G c.6350A>C p.N2117T Missense 34/34 - 1
9-139391844-T-C c.6347A>G p.Y2116C Missense 34/34 - 1
9-139391848-C-A c.6343G>T p.E2115* Nonsense 34/34 - 1
9-139391853-A-C c.6338T>G p.L2113R Missense 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 - 1
9-139391869-C-T c.6322G>A p.D2108N Missense 34/34 - 2
9-139391870-CG-C c.6321del p.H2107Qfs*4 Frameshift 34/34 - 1
9-139391880-C-T c.6311G>A p.R2104H Missense 34/34 - 2
9-139391884-C-T c.6307G>A p.E2103K Missense 34/34 - 1
9-139391887-G-A c.6304C>T p.Q2102* Nonsense 34/34 - 1
9-139391892-A-G c.6299T>C p.I2100T Missense 34/34 - 1
9-139391896-C-T c.6295G>A p.D2099N Missense 34/34 - 1
9-139391898-C-T c.6293G>A p.R2098H Missense 34/34 - 1
9-139391900-C-T c.6291G>A p.P2097= Synonymous 34/34 - 2
9-139391900-GC-G c.6291del p.R2098Afs*13 Frameshift 34/34 - 1
9-139391901-G-A c.6290C>T p.P2097L Missense 34/34 - 1
9-139391907-C-T c.6284G>A p.R2095H Missense 34/34 - 1
9-139391908-G-A c.6283C>T p.R2095C Missense 34/34 - 2
9-139391921-C-G c.6270G>C p.T2090= Synonymous 34/34 - 1
9-139391931-C-A c.6260G>T p.R2087L Missense 34/34 - 1
9-139391937-G-C c.6254C>G p.A2085G Missense 34/34 - 1
9-139391934-TTGGCAAAG-T c.6249_6256del p.H2083Qfs*182 Frameshift 34/34 - 1
9-139391959-T-A c.6232A>T p.K2078* Nonsense 34/34 - 1
9-139391962-C-T c.6229G>A p.A2077T Missense 34/34 - 3
9-139391980-C-T c.6211G>A p.E2071K Missense 34/34 - 1
9-139391983-G-A c.6208C>T p.R2070W Missense 34/34 - 1
9-139391986-C-T c.6205G>A p.A2069T 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
9-139391998-G-C c.6193C>G p.L2065V Missense 34/34 - 1
9-139392000-G-A c.6191C>T p.P2064L Missense 34/34 - 2
9-139392007-C-A c.6184G>T p.E2062* Nonsense 34/34 - 2
9-139392007-C-T c.6184G>A p.E2062K Missense 34/34 - 1
9-139392006-TC-T c.6184del p.E2062Rfs*49 Frameshift 34/34 - 1
9-139393162-G-A c.6180+189C>T - IntronicSNV - 33/33 1
9-139393307-A-G c.6180+44T>C - IntronicSNV - 33/33 1
9-139393350-C-G c.6180+1G>C - IntronicSNV - 33/33 1
9-139393351-C-T c.6180G>A p.R2060= Synonymous 33/34 - 1
9-139393352-CTGT-C c.6176_6178del p.N2059del InFrameDeletion 33/34 - 2
9-139393362-G-A c.6169C>T p.Q2057* Nonsense 33/34 - 1
9-139393364-A-G c.6167T>C p.M2056T Missense 33/34 - 1
9-139393368-C-T c.6163G>A p.D2055N Missense 33/34 - 1
9-139393380-C-T c.6151G>A p.G2051R Missense 33/34 - 1
9-139393380-C-G c.6151G>C p.G2051R Missense 33/34 - 1
9-139393382-T-C c.6149A>G p.N2050S Missense 33/34 - 1
9-139393384-C-G c.6147G>C p.K2049N Missense 33/34 - 1
9-139393385-T-C c.6146A>G p.K2049R Missense 33/34 - 1
9-139393398-C-T c.6133G>A p.V2045I Missense 33/34 - 2
9-139393403-G-A c.6128C>T p.A2043V Missense 33/34 - 1
9-139393407-C-T c.6124G>A p.D2042N Missense 33/34 - 1
9-139393406-TC-T c.6124del p.D2042Mfs*7 Frameshift 33/34 - 1
9-139393412-T-C c.6119A>G p.N2040S Missense 33/34 - 1
9-139393419-C-G c.6112G>C p.V2038L Missense 33/34 - 1
9-139393419-C-A c.6112G>T p.V2038L Missense 33/34 - 1
9-139393422-C-A c.6109G>T p.A2037S Missense 33/34 - 1
9-139393424-G-A c.6107C>T p.A2036V Missense 33/34 - 1
9-139393425-C-T c.6106G>A p.A2036T Missense 33/34 - 1
9-139393425-CG-C c.6105del p.A2036Pfs*3 Frameshift 33/34 - 1
9-139393431-A-T c.6100T>A p.W2034R Missense 33/34 - 1
9-139393431-A-G c.6100T>C p.W2034R Missense 33/34 - 1
9-139393437-G-T c.6094C>A p.L2032M Missense 33/34 - 1
9-139393443-A-G c.6088T>C p.S2030P Missense 33/34 - 1
9-139393448-C-T c.6083G>A p.G2028D Missense 33/34 - 1
9-139393524-C-T c.6082+40G>A - IntronicSNV - 32/33 1
9-139393579-C-A c.6067G>T p.A2023S Missense 32/34 - 1
9-139393579-C-T c.6067G>A p.A2023T Missense 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
9-139393585-C-A c.6061G>T p.V2021F Missense 32/34 - 1
9-139393585-C-T c.6061G>A p.V2021I Missense 32/34 - 1
9-139393588-C-G c.6058G>C p.D2020H Missense 32/34 - 2
9-139393591-C-T c.6055G>A p.A2019T Missense 32/34 - 1
9-139393592-G-T c.6054C>A p.H2018Q Missense 32/34 - 1
9-139393593-TG-CA c.6052_6053inv p.H2018C Missense 32/34 - 1
9-139393596-G-T c.6050C>A p.S2017* Nonsense 32/34 - 1
9-139393595-TGA-T c.6049_6050del p.S2017Tfs*9 Frameshift 32/34 - 3
9-139393605-A-G c.6041T>C p.L2014P Missense 32/34 - 1
9-139393609-C-T c.6037G>A p.D2013N Missense 32/34 - 2
9-139393614-A-C c.6032T>G p.L2011R Missense 32/34 - 1
9-139393618-T-C c.6028A>G p.M2010V Missense 32/34 - 1
9-139393620-C-T c.6026G>A p.G2009D Missense 32/34 - 1
9-139393625-C-T c.6021G>A p.V2007= Synonymous 32/34 - 1
9-139393625-C-G c.6021G>C p.V2007= Synonymous 32/34 - 1
9-139393625-C-A c.6021G>T p.V2007= Synonymous 32/34 - 1
9-139393632-A-C c.6014T>G p.L2005R Missense 32/34 - 1
9-139393635-C-T c.6011G>A p.R2004H Missense 32/34 - 1
9-139393635-C-A c.6011G>T p.R2004L Missense 32/34 - 1
9-139393636-G-A c.6010C>T p.R2004C Missense 32/34 - 1
9-139393641-G-T c.6005C>A p.A2002D Missense 32/34 - 1
9-139393655-C-T c.5991G>A p.T1997= Synonymous 32/34 - 1
9-139393656-G-A c.5990C>T p.T1997M Missense 32/34 - 5
9-139393659-G-A c.5987C>T p.T1996M Missense 32/34 - 2
9-139393661-G-A c.5985C>T p.G1995= Synonymous 32/34 - 1
9-139393661-G-C c.5985C>G p.G1995= Synonymous 32/34 - 1
9-139393661-G-T c.5985C>A p.G1995= Synonymous 32/34 - 1
9-139393662-C-A c.5984G>T p.G1995V Missense 32/34 - 1
9-139393662-C-T c.5984G>A p.G1995D Missense 32/34 - 1
9-139393664-A-C c.5982T>G p.D1994E Missense 32/34 - 1
9-139393664-A-T c.5982T>A p.D1994E Missense 32/34 - 1
9-139393669-G-A c.5977C>T p.H1993Y Missense 32/34 - 1
9-139393670-C-G c.5976G>C p.M1992I Missense 32/34 - 1
9-139393670-C-T c.5976G>A p.M1992I Missense 32/34 - 1
9-139393670-C-A c.5976G>T p.M1992I Missense 32/34 - 1
9-139393674-C-A c.5972G>T p.R1991L Missense 32/34 - 1
9-139393675-G-A c.5971C>T p.R1991C Missense 32/34 - 1
9-139393678-C-T c.5968G>A p.A1990T Missense 32/34 - 1
9-139393681-C-T c.5965G>A p.D1989N Missense 32/34 - 5
9-139393695-CG-GC c.5950_5951delinsGC p.R1984A Missense 32/34 - 2
9-139393696-G-A c.5950C>T p.R1984* Nonsense 32/34 - 2
9-139393698-T-C c.5948A>G p.N1983S Missense 32/34 - 3
9-139393700-CC-AT c.5945_5946delinsAT p.R1982H Missense 32/34 - 1
9-139393702-G-A c.5944C>T p.R1982W Missense 32/34 - 1
9-139393708-G-T c.5938C>A p.L1980M Missense 32/34 - 1
9-139394345-G-A c.5935-634C>T - IntronicSNV - 31/33 1
9-139394345-G-C c.5935-634C>G - IntronicSNV - 31/33 1
9-139395006-G-A c.5932C>T p.Q1978* Nonsense 31/34 - 3
9-139395013-CACCTTGTGCGTCG-C c.5913_5925del p.D1972Sfs*5 Frameshift 31/34 - 1
9-139395021-C-T c.5917G>A p.A1973T Missense 31/34 - 1
9-139395026-G-T c.5912C>A p.A1971D Missense 31/34 - 1
9-139395026-G-A c.5912C>T p.A1971V Missense 31/34 - 1
9-139395038-G-T c.5900C>A p.A1967E Missense 31/34 - 1
9-139395040-A-T c.5898T>A p.H1966Q Missense 31/34 - 1
9-139395040-A-C c.5898T>G p.H1966Q Missense 31/34 - 1
9-139395047-G-A c.5891C>T p.P1964L Missense 31/34 - 1
9-139395048-G-A c.5890C>T p.P1964S Missense 31/34 - 1
9-139395053-C-T c.5885G>A p.R1962H Missense 31/34 - 6
9-139395065-T-G c.5873A>C p.D1958A Missense 31/34 - 1
9-139395068-T-G c.5870A>C p.Q1957P Missense 31/34 - 4
9-139395069-G-A c.5869C>T p.Q1957* Nonsense 31/34 - 1
9-139395073-TG-T c.5865del p.N1955Kfs*26 Frameshift 31/34 - 1
9-139395081-C-T c.5857G>A p.D1953N Missense 31/34 - 1
9-139395089-G-A c.5849C>T p.A1950V Missense 31/34 - 1
9-139395090-C-T c.5848G>A p.A1950T Missense 31/34 - 1
9-139395093-C-T c.5845G>A p.E1949K Missense 31/34 - 1
9-139395101-C-T c.5837G>A p.R1946H Missense 31/34 - 2
9-139395102-G-A c.5836C>T p.R1946C Missense 31/34 - 2
9-139395105-T-C c.5833A>G p.K1945E Missense 31/34 - 1
9-139395113-TC-CA c.5824_5825delinsTG p.D1942C Missense 31/34 - 1
9-139395118-G-T c.5820C>A p.R1940= Synonymous 31/34 - 1
9-139395118-G-C c.5820C>G p.R1940= Synonymous 31/34 - 1
9-139395118-G-A c.5820C>T p.R1940= Synonymous 31/34 - 1
9-139395132-C-T c.5806G>A p.A1936T Missense 31/34 - 2
9-139395148-G-T c.5790C>A p.T1930= Synonymous 31/34 - 1
9-139395148-G-C c.5790C>G p.T1930= Synonymous 31/34 - 1
9-139395148-G-A c.5790C>T p.T1930= Synonymous 31/34 - 1
9-139395150-T-C c.5788A>G p.T1930A Missense 31/34 - 1
9-139395153-C-A c.5785G>T p.E1929* Nonsense 31/34 - 2
9-139395153-C-T c.5785G>A p.E1929K Missense 31/34 - 1
9-139395158-G-A c.5780C>T p.T1927M Missense 31/34 - 2
9-139395161-C-T c.5777G>A p.R1926H Missense 31/34 - 2
9-139395162-G-T c.5776C>A p.R1926S Missense 31/34 - 1
9-139395162-G-A c.5776C>T p.R1926C Missense 31/34 - 1
9-139395167-G-C c.5771C>G p.T1924R Missense 31/34 - 1
9-139395171-G-A c.5767C>T p.Q1923* Nonsense 31/34 - 2
9-139395174-T-C c.5764A>G p.N1922D Missense 31/34 - 1
9-139395175-G-A c.5763C>T p.H1921= Synonymous 31/34 - 1
9-139395176-T-C c.5762A>G p.H1921R Missense 31/34 - 1
9-139395179-A-T c.5759T>A p.L1920Q Missense 31/34 - 1
9-139395186-C-T c.5752G>A p.A1918T Missense 31/34 - 2
9-139395190-C-A c.5748G>T p.Q1916H Missense 31/34 - 1
9-139395196-G-C c.5742C>G p.I1914M Missense 31/34 - 2
9-139395201-A-C c.5737T>G p.F1913V Missense 31/34 - 1
9-139395202-G-C c.5736C>G p.D1912E Missense 31/34 - 1
9-139395202-G-T c.5736C>A p.D1912E Missense 31/34 - 1
9-139395213-C-A c.5725G>T p.V1909F Missense 31/34 - 1
9-139395218-G-A c.5720C>T p.P1907L Missense 31/34 - 1
9-139395221-G-A c.5717C>T p.A1906V Missense 31/34 - 1
9-139395234-C-T c.5704G>A p.E1902K Missense 31/34 - 1
9-139395237-C-T c.5701G>A p.E1901K Missense 31/34 - 3
9-139395248-G-A c.5690C>T p.T1897M Missense 31/34 - 1
9-139395254-A-T c.5684T>A p.L1895Q Missense 31/34 - 1
9-139395258-C-T c.5680G>A p.G1894S Missense 31/34 - 1
9-139395263-C-T c.5675G>A p.G1892E 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 - 1
9-139395273-A-C c.5665T>G p.S1889A Missense 31/34 - 1
9-139395281-A-T c.5657T>A p.M1886K Missense 31/34 - 1
9-139395282-T-G c.5656A>C p.M1886L Missense 31/34 - 1
9-139395282-T-A c.5656A>T p.M1886L Missense 31/34 - 1
9-139395296-C-T c.5642G>A p.G1881D Missense 31/34 - 1
9-139395298-A-C c.5640T>G p.D1880E Missense 31/34 - 1
9-139395298-A-T c.5640T>A p.D1880E Missense 31/34 - 1
9-139395311-G-A c.5639-12C>T - IntronicSNV - 30/33 2
9-139395311-G-C c.5639-12C>G - IntronicSNV - 30/33 2
9-139395473-C-T c.5639-174G>A - IntronicSNV - 30/33 2
9-139396113-T-A c.5638+87A>T - IntronicSNV - 30/33 1
9-139396200-C-T c.5638G>A p.D1880N Missense 30/34 - 1
9-139396203-G-A c.5635C>T p.P1879S Missense 30/34 - 1
9-139396213-A-C c.5625T>G p.N1875K Missense 30/34 - 1
9-139396213-A-T c.5625T>A p.N1875K Missense 30/34 - 1
9-139396214-T-C c.5624A>G p.N1875S Missense 30/34 - 3
9-139396215-T-A c.5623A>T p.N1875Y Missense 30/34 - 1
9-139396213-A-AT c.5624dup p.N1875Kfs*6 Frameshift 30/34 - 1
9-139396217-AC-CT c.5620_5621delinsAG p.V1874S Missense 30/34 - 1
9-139396226-CA-GC c.5611_5612delinsGC p.C1871A Missense 30/34 - 1
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 - 1
9-139396234-G-C c.5604C>G p.D1868E Missense 30/34 - 1
9-139396234-G-T c.5604C>A p.D1868E Missense 30/34 - 1
9-139396239-C-A c.5599G>T p.V1867F Missense 30/34 - 1
9-139396239-C-T c.5599G>A p.V1867I Missense 30/34 - 1
9-139396240-CTCACCCTGGGGCGG-C c.5584_5597del p.P1862Gfs*2 Frameshift 30/34 - 1
9-139396242-C-T c.5596G>A p.E1866K Missense 30/34 - 1
9-139396259-G-A c.5579C>T p.P1860L Missense 30/34 - 1
9-139396262-G-A c.5576C>T p.A1859V Missense 30/34 - 1
9-139396266-T-G c.5572A>C p.M1858L Missense 30/34 - 2
9-139396266-T-A c.5572A>T p.M1858L Missense 30/34 - 1
9-139396277-C-T c.5561G>A p.R1854H Missense 30/34 - 1
9-139396278-G-A c.5560C>T p.R1854C Missense 30/34 - 1
9-139396284-C-T c.5554G>A p.D1852N Missense 30/34 - 1
9-139396287-C-T c.5551G>A p.A1851T Missense 30/34 - 1
9-139396286-GCGGCATC-G c.5545_5551del p.D1849Lfs*36 Frameshift 30/34 - 1
9-139396300-C-A c.5538G>T p.Q1846H Missense 30/34 - 1
9-139396305-G-A c.5533C>T p.Q1845* Nonsense 30/34 - 1
9-139396305-G-T c.5533C>A p.Q1845K Missense 30/34 - 1
9-139396309-C-T c.5529G>A p.W1843* Nonsense 30/34 - 5
9-139396310-C-T c.5528G>A p.W1843* Nonsense 30/34 - 1
9-139396316-C-A c.5522G>T p.R1841L Missense 30/34 - 1
9-139396319-T-C c.5519A>G p.H1840R Missense 30/34 - 1
9-139396332-C-T c.5506G>A p.D1836N Missense 30/34 - 2
9-139396340-T-G c.5498A>C p.D1833A Missense 30/34 - 1
9-139396343-G-C c.5495C>G p.P1832R Missense 30/34 - 1
9-139396358-T-A c.5480A>T p.E1827V Missense 30/34 - 1
9-139396359-C-T c.5479G>A p.E1827K Missense 30/34 - 1
9-139396362-C-T c.5476G>A p.E1826K Missense 30/34 - 2
9-139396408-A-G c.5473-43T>C - IntronicSNV - 29/33 6
9-139396452-C-T c.5472+1G>A - IntronicSNV - 29/33 1
9-139396454-C-T c.5471G>A p.R1824Q Missense 29/34 - 1
9-139396455-G-A c.5470C>T p.R1824W Missense 29/34 - 2
9-139396454-C-CG c.5470dup p.R1824Pfs*10 SpliceDonorInsertion 29/34 - 1
9-139396482-C-T c.5443G>A p.D1815N Missense 29/34 - 1
9-139396485-C-T c.5440G>A p.G1814R Missense 29/34 - 1
9-139396485-C-G c.5440G>C p.G1814R Missense 29/34 - 1
9-139396487-C-A c.5438G>T p.W1813L Missense 29/34 - 2
9-139396487-C-G c.5438G>C p.W1813S Missense 29/34 - 1
9-139396487-C-T c.5438G>A p.W1813* Nonsense 29/34 - 1
9-139396486-C-T c.5439G>A p.W1813* Nonsense 29/34 - 1
9-139396481-TC-T c.5443del p.D1815Tfs*72 Frameshift 29/34 - 2
9-139396481-T-TC c.5443dup p.D1815Gfs*19 Frameshift 29/34 - 1
9-139396497-G-C c.5428C>G p.Q1810E Missense 29/34 - 1
9-139396497-G-A c.5428C>T p.Q1810* Nonsense 29/34 - 1
9-139396500-T-G c.5425A>C p.N1809H Missense 29/34 - 1
9-139396503-C-T c.5422G>A p.D1808N Missense 29/34 - 4
9-139396511-A-G c.5414T>C p.L1805P Missense 29/34 - 1
9-139396554-G-A c.5385-14C>T - IntronicSNV - 28/33 1
9-139396690-C-T c.5384+34G>A - IntronicSNV - 28/33 2
9-139396714-G-A c.5384+10C>T - IntronicSNV - 28/33 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
9-139396738-G-T c.5370C>A p.D1790E Missense 28/34 - 1
9-139396743-C-A c.5365G>T p.E1789* Nonsense 28/34 - 1
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-T c.5362G>A p.G1788S Missense 28/34 - 3
9-139396755-C-CA c.5352_5353insT p.E1785* Nonsense 28/34 - 1
9-139396757-C-T c.5351G>A p.R1784Q Missense 28/34 - 1
9-139396757-C-G c.5351G>C p.R1784P Missense 28/34 - 1
9-139396757-C-A c.5351G>T p.R1784L Missense 28/34 - 1
9-139396758-GC-G c.5349del p.R1784Gfs*14 Frameshift 28/34 - 2
9-139396760-C-T c.5348G>A p.R1783Q Missense 28/34 - 1
9-139396761-G-T c.5347C>A p.R1783= Synonymous 28/34 - 1
9-139396761-G-A c.5347C>T p.R1783W Missense 28/34 - 2
9-139396775-G-A c.5333C>T p.A1778V Missense 28/34 - 1
9-139396773-TG-T c.5334del p.S1779Afs*19 Frameshift 28/34 - 2
9-139396787-T-C c.5321A>G p.K1774R Missense 28/34 - 1
9-139396796-T-C c.5312A>G p.E1771G Missense 28/34 - 1
9-139396799-GG-AA c.5308_5309delinsTT p.P1770F Missense 28/34 - 1
9-139396800-G-A c.5308C>T p.P1770S Missense 28/34 - 4
9-139396801-G-A c.5307C>T p.F1769= Synonymous 28/34 - 1
9-139396802-A-C c.5306T>G p.F1769C Missense 28/34 - 1
9-139396805-C-T c.5303G>A p.W1768* Nonsense 28/34 - 1
9-139396804-C-T c.5304G>A p.W1768* Nonsense 28/34 - 1
9-139396826-C-T c.5282G>A p.R1761Q Missense 28/34 - 1
9-139396827-G-A c.5281C>T p.R1761W Missense 28/34 - 1
9-139396835-C-T c.5273G>A p.R1758H Missense 28/34 - 4
9-139396836-G-A c.5272C>T p.R1758C Missense 28/34 - 1
9-139396836-G-C c.5272C>G p.R1758G Missense 28/34 - 1
9-139396842-G-C c.5266C>G p.L1756V Missense 28/34 - 1
9-139396847-A-C c.5261T>G p.V1754G Missense 28/34 - 1
9-139396848-C-G c.5260G>C p.V1754L Missense 28/34 - 1
9-139396848-C-A c.5260G>T p.V1754L Missense 28/34 - 1
9-139396851-C-A c.5257G>T p.G1753W Missense 28/34 - 1
9-139396847-AC-A c.5260del p.V1754Cfs*44 Frameshift 28/34 - 1
9-139396851-C-T c.5257G>A p.G1753R Missense 28/34 - 2
9-139396851-C-G c.5257G>C p.G1753R Missense 28/34 - 1
9-139396852-G-T c.5256C>A p.C1752* Nonsense 28/34 - 3
9-139396853-C-T c.5255G>A p.C1752Y Missense 28/34 - 1
9-139396854-A-G c.5254T>C p.C1752R Missense 28/34 - 1
9-139396854-A-T c.5254T>A p.C1752S Missense 28/34 - 1
9-139396853-C-G c.5255G>C p.C1752S Missense 28/34 - 1
9-139396855-AGCCC-A c.5250_5253del p.G1751Afs*46 Frameshift 28/34 - 1
9-139396855-G-A c.5253C>T p.G1751= Synonymous 28/34 - 1
9-139396855-G-C c.5253C>G p.G1751= Synonymous 28/34 - 1
9-139396855-G-T c.5253C>A p.G1751= Synonymous 28/34 - 1
9-139396856-C-T c.5252G>A p.G1751D Missense 28/34 - 1
9-139396856-C-A c.5252G>T p.G1751V Missense 28/34 - 1
9-139396859-A-T c.5249T>A p.V1750E Missense 28/34 - 1
9-139396860-C-T c.5248G>A p.V1750M Missense 28/34 - 2
9-139396860-ACG-A c.5247_5248del p.V1750Gfs*21 Frameshift 28/34 - 1
9-139396861-G-A c.5247C>T p.F1749= Synonymous 28/34 - 2
9-139396862-A-T c.5246T>A p.F1749Y Missense 28/34 - 1
9-139396868-A-T c.5240T>A p.L1747Q Missense 28/34 - 1
9-139396872-G-C c.5236C>G p.L1746V Missense 28/34 - 1
9-139396879-G-A c.5229C>T p.A1743= Synonymous 28/34 - 1
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
9-139396886-G-A c.5222C>T p.A1741V Missense 28/34 - 1
9-139396889-G-A c.5219C>T p.A1740V Missense 28/34 - 1
9-139396890-C-A c.5218G>T p.A1740S Missense 28/34 - 2
9-139396892-A-C c.5216T>G p.V1739G Missense 28/34 - 1
9-139396893-C-T c.5215G>A p.V1739M Missense 28/34 - 2
9-139396897-C-T c.5211G>A p.M1737I Missense 28/34 - 1
9-139396904-T-G c.5204A>C p.H1735P Missense 28/34 - 1
9-139396904-T-C c.5204A>G p.H1735R Missense 28/34 - 1
9-139396911-G-A c.5197C>T p.Q1733* Nonsense 28/34 - 2
9-139396916-G-A c.5192C>T p.P1731L Missense 28/34 - 1
9-139396919-G-A c.5189C>T p.P1730L Missense 28/34 - 1
9-139396925-G-A c.5183C>T p.P1728L Missense 28/34 - 1
9-139396983-A-G c.5168-43T>C - IntronicSNV - 27/33 1
9-139397513-C-G c.5167+121G>C - IntronicSNV - 27/33 1
9-139397627-CACTT-C c.5167+3_5167+6del - IntronicDeletion 27/34 27/33 1
9-139397636-T-G c.5165A>C p.Q1722P Missense 27/34 - 2
9-139397639-A-C c.5162T>G p.V1721G Missense 27/34 - 6
9-139397639-A-T c.5162T>A p.V1721E Missense 27/34 - 2
9-139397640-C-T c.5161G>A p.V1721M Missense 27/34 - 3
9-139397646-C-A c.5155G>T 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
9-139397648-A-G c.5153T>C p.I1718T Missense 27/34 - 5
9-139397664-T-C c.5137A>G p.N1713D Missense 27/34 - 1
9-139397672-C-T c.5129G>A p.G1710D Missense 27/34 - 1
9-139397673-C-G c.5128G>C p.G1710R Missense 27/34 - 1
9-139397675-A-G c.5126T>C p.L1709P Missense 27/34 - 4
9-139397677-C-T c.5124G>A p.S1708= Synonymous 27/34 - 1
9-139397678-G-A c.5123C>T p.S1708L Missense 27/34 - 1
9-139397678-G-C c.5123C>G p.S1708W Missense 27/34 - 1
9-139397681-G-A c.5120C>T p.A1707V Missense 27/34 - 1
9-139397682-C-T c.5119G>A p.A1707T Missense 27/34 - 1
9-139397683-G-A c.5118C>T p.L1706= Synonymous 27/34 - 1
9-139397687-G-A c.5114C>T p.A1705V Missense 27/34 - 1
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
9-139397696-A-G c.5105T>C p.F1702S Missense 27/34 - 3
9-139397698-T-C c.5103A>G p.A1701= Synonymous 27/34 - 1
9-139397700-C-T c.5101G>A p.A1701T Missense 27/34 - 4
9-139397700-C-G c.5101G>C p.A1701P Missense 27/34 - 4
9-139397700-C-A c.5101G>T p.A1701S Missense 27/34 - 1
9-139397702-G-T c.5099C>A p.A1700D Missense 27/34 - 1
9-139397705-A-T c.5096T>A p.V1699E Missense 27/34 - 1
9-139397707-G-A c.5094C>T p.D1698= Synonymous 27/34 - 15
9-139397709-C-T c.5092G>A p.D1698N Missense 27/34 - 2
9-139397714-G-T c.5087C>A p.A1696D Missense 27/34 - 2
9-139397716-A-G c.5085T>C p.S1695= Synonymous 27/34 - 1
9-139397719-CTG-GAT c.5080_5082delinsATC p.Q1694I Missense 27/34 - 1
9-139397720-T-C c.5081A>G p.Q1694R Missense 27/34 - 1
9-139397727-A-G c.5074T>C p.C1692R 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 - 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 - 1
9-139397732-G-A c.5069C>T p.S1690L Missense 27/34 - 2
9-139397739-C-T c.5062G>A p.A1688T Missense 27/34 - 2
9-139397744-A-G c.5057T>C p.V1686A Missense 27/34 - 1
9-139397745-C-T c.5056G>A p.V1686M Missense 27/34 - 1
9-139397746-A-G c.5055T>C p.C1685= Synonymous 27/34 - 1
9-139397748-A-G c.5053T>C p.C1685R Missense 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 - 1
9-139397760-C-T c.5041G>A p.D1681N Missense 27/34 - 1
9-139397761-A-G c.5040T>C p.I1680= Synonymous 27/34 - 1
9-139397762-A-G c.5039T>C p.I1680T Missense 27/34 - 1
9-139397762-A-T c.5039T>A p.I1680N Missense 27/34 - 9
9-139397762-A-C c.5039T>G p.I1680S Missense 27/34 - 1
9-139397764-C-G c.5037G>C p.E1679D Missense 27/34 - 1
9-139397764-C-A c.5037G>T p.E1679D Missense 27/34 - 1
9-139397767-C-A c.5034G>T p.L1678= Synonymous 27/34 - 1
9-139397768-A-G c.5033T>C p.L1678P Missense 27/34 - 25
9-139397768-A-T c.5033T>A p.L1678Q Missense 27/34 - 3
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
9-139397774-A-T c.5027T>A p.V1676D Missense 27/34 - 4
9-139397772-AGAC-A c.5026_5028del p.V1676del InFrameDeletion 27/34 - 1
9-139397780-G-A c.5021C>T p.S1674F Missense 27/34 - 1
9-139397781-A-G c.5020T>C p.S1674P Missense 27/34 - 1
9-139399070-G-A c.5018+55C>T - IntronicSNV - 26/33 2
9-139399070-G-C c.5018+55C>G - IntronicSNV - 26/33 1
9-139399128-GC-G c.5015del p.R1672Pfs*126 Frameshift 26/34 - 1
9-139399128-C-T c.5015G>A p.R1672H Missense 26/34 - 2
9-139399132-C-T c.5011G>A p.V1671I Missense 26/34 - 5
9-139399133-G-A c.5010C>T p.D1670= Synonymous 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
9-139399136-C-A c.5007G>T p.M1669I Missense 26/34 - 1
9-139399155-C-T c.4988G>A p.R1663Q Missense 26/34 - 1
9-139399156-G-A c.4987C>T p.R1663W Missense 26/34 - 1
9-139399158-C-A c.4985G>T p.R1662L Missense 26/34 - 1
9-139399158-C-T c.4985G>A p.R1662Q Missense 26/34 - 1
9-139399162-G-A c.4981C>T p.R1661W Missense 26/34 - 1
9-139399163-CCC-ACA c.4978_4980delinsTGT p.G1660C Missense 26/34 - 1
9-139399167-C-T c.4976G>A p.G1659D Missense 26/34 - 1
9-139399168-C-A c.4975G>T p.G1659C Missense 26/34 - 1
9-139399172-G-C c.4971C>G p.S1657R Missense 26/34 - 1
9-139399172-G-T c.4971C>A p.S1657R Missense 26/34 - 1
9-139399174-T-G c.4969A>C p.S1657R Missense 26/34 - 1
9-139399183-G-A c.4960C>T p.P1654S Missense 26/34 - 1
9-139399191-G-A c.4952C>T p.S1651L Missense 26/34 - 2
9-139399193-G-T c.4950C>A p.A1650= Synonymous 26/34 - 1
9-139399193-G-C c.4950C>G p.A1650= Synonymous 26/34 - 1
9-139399193-G-A c.4950C>T p.A1650= Synonymous 26/34 - 1
9-139399195-C-T c.4948G>A p.A1650T Missense 26/34 - 1
9-139399196-C-A c.4947G>T p.K1649N Missense 26/34 - 1
9-139399211-C-A c.4932G>T p.L1644= Synonymous 26/34 - 1
9-139399211-C-T c.4932G>A p.L1644= Synonymous 26/34 - 1
9-139399211-C-G c.4932G>C p.L1644= Synonymous 26/34 - 1
9-139399213-G-A c.4930C>T p.L1644= Synonymous 26/34 - 2
9-139399212-AG-A c.4930del p.L1644Cfs*5 Frameshift 26/34 - 1
9-139399217-G-A c.4926C>T p.D1642= Synonymous 26/34 - 1
9-139399222-G-A c.4921C>T p.P1641S Missense 26/34 - 3
9-139399225-C-T c.4918G>A p.A1640T Missense 26/34 - 2
9-139399228-C-T c.4915G>A p.A1639T Missense 26/34 - 1
9-139399230-C-T c.4913G>A p.W1638* Nonsense 26/34 - 1
9-139399229-C-T c.4914G>A p.W1638* Nonsense 26/34 - 1
9-139399233-C-T c.4910G>A p.G1637D Missense 26/34 - 1
9-139399236-T-G c.4907A>C p.E1636A Missense 26/34 - 1
9-139399237-C-T c.4906G>A p.E1636K Missense 26/34 - 7
9-139399239-G-A c.4904C>T p.A1635V Missense 26/34 - 1
9-139399242-G-T c.4901C>A p.A1634D Missense 26/34 - 2
9-139399243-GC-G c.4900del p.A1634Pfs*15 Frameshift 26/34 - 1
9-139399243-C-A c.4900G>T p.A1634S Missense 26/34 - 1
9-139399244-AC-TT c.4898_4899delinsAA p.R1633Q Missense 26/34 - 1
9-139399244-CACG-C c.4897_4899del p.R1633del InFrameDeletion 26/34 - 1
9-139399245-C-T c.4898G>A p.R1633H Missense 26/34 - 5
9-139399245-C-A c.4898G>T p.R1633L Missense 26/34 - 2
9-139399246-G-A c.4897C>T p.R1633C Missense 26/34 - 1
9-139399256-GTGCTTGCGCAGCTCCTCCTCGCGGCCGTAGTAGGGGAAGATCATC-G c.4842_4886del p.Q1614_K1628del InFrameDeletion 26/34 - 1
9-139399263-C-T c.4880G>A p.R1627H Missense 26/34 - 2
9-139399270-C-G c.4873G>C p.E1625Q Missense 26/34 - 1
9-139399270-CCTCCTCGCGGCCGTAGTAGGGGAAGATCATCTGCTGGCCGTGTGCGTCACGCTTGAAGA-C c.4814_4872del p.V1605Gfs*18 SpliceAcceptorDeletion 26/34 - 1
9-139399273-C-A c.4870G>T p.E1624* Nonsense 26/34 - 1
9-139399276-C-T c.4867G>A p.E1623K Missense 26/34 - 2
9-139399278-C-T c.4865G>A p.R1622H Missense 26/34 - 1
9-139399276-CGCG-C c.4864_4866del p.R1622del InFrameDeletion 26/34 - 1
9-139399284-GTAGTAGGGGA-G c.4850_4859del p.F1617Sfs*29 Frameshift 26/34 - 1
9-139399285-A-T c.4858T>A p.Y1620N Missense 26/34 - 1
9-139399286-G-T c.4857C>A p.Y1619* Nonsense 26/34 - 2
9-139399286-G-C c.4857C>G p.Y1619* Nonsense 26/34 - 2
9-139399285-AGTAGGG-A c.4852_4857del p.P1618_Y1619del InFrameDeletion 26/34 - 1
9-139399287-GTAGGGGAAGATC-G c.4845_4856del p.M1615_Y1619delinsI MultiAAMissense 26/34 - 1
9-139399296-A-T c.4847T>A p.I1616N Missense 26/34 - 7
9-139399296-A-G c.4847T>C p.I1616T Missense 26/34 - 1
9-139399298-C-G c.4845G>C p.M1615I Missense 26/34 - 1
9-139399298-C-T c.4845G>A p.M1615I Missense 26/34 - 1
9-139399298-C-A c.4845G>T p.M1615I Missense 26/34 - 1
9-139399315-C-A c.4828G>T p.A1610S Missense 26/34 - 1
9-139399315-C-T c.4828G>A p.A1610T Missense 26/34 - 1
9-139399316-G-A c.4827C>T p.D1609= Synonymous 26/34 - 1
9-139399317-T-G c.4826A>C p.D1609A Missense 26/34 - 1
9-139399318-C-G c.4825G>C p.D1609H Missense 26/34 - 1
9-139399320-C-T c.4823G>A p.R1608H Missense 26/34 - 1
9-139399321-G-T c.4822C>A p.R1608S Missense 26/34 - 1
9-139399321-G-C c.4822C>G p.R1608G Missense 26/34 - 1
9-139399322-C-TTGAAGG c.4821delinsCCTTCAA p.K1607delinsNLQ MultiAAMissense 26/34 - 1
9-139399325-GAA-CTCCTTCTCAAG c.4816_4818delinsCTTGAGAAGGAG p.F1606delinsLEKE MultiAAMissense 26/34 - 1
9-139399326-AA-GC c.4816_4817delinsGC p.F1606A Missense 26/34 - 1
9-139399326-A-C c.4817T>G p.F1606C Missense 26/34 - 1
9-139399327-A-G c.4816T>C p.F1606L Missense 26/34 - 3
9-139399325-G-T c.4818C>A p.F1606L Missense 26/34 - 4
9-139399325-G-C c.4818C>G p.F1606L Missense 26/34 - 3
9-139399332-A-T c.4811T>A p.V1604E Missense 26/34 - 1
9-139399332-A-C c.4811T>G p.V1604G Missense 26/34 - 1
9-139399333-C-T c.4810G>A p.V1604M Missense 26/34 - 1
9-139399334-G-C c.4809C>G p.N1603K Missense 26/34 - 1
9-139399334-G-T c.4809C>A p.N1603K Missense 26/34 - 1
9-139399339-T-C c.4804A>G p.T1602A Missense 26/34 - 1
9-139399341-T-A c.4802A>T p.H1601L Missense 26/34 - 3
9-139399341-T-G c.4802A>C p.H1601P Missense 26/34 - 2
9-139399344-A-T c.4799T>A p.L1600Q Missense 26/34 - 8
9-139399344-A-G c.4799T>C p.L1600P Missense 26/34 - 13
9-139399346-C-T c.4797G>A p.V1599= Synonymous 26/34 - 1
9-139399348-C-T c.4795G>A p.V1599M Missense 26/34 - 3
9-139399349-G-T c.4794C>A p.R1598= Synonymous 26/34 - 1
9-139399349-G-C c.4794C>G p.R1598= Synonymous 26/34 - 1
9-139399349-G-A c.4794C>T p.R1598= Synonymous 26/34 - 1
9-139399350-C-G c.4793G>C p.R1598P Missense 26/34 - 17
9-139399350-C-A c.4793G>T p.R1598L Missense 26/34 - 1
9-139399350-C-T c.4793G>A p.R1598H Missense 26/34 - 3
9-139399353-C-A c.4790G>T p.S1597I Missense 26/34 - 1
9-139399354-T-C c.4789A>G p.S1597G Missense 26/34 - 1
9-139399355-G-A c.4788C>T p.L1596= Synonymous 26/34 - 1
9-139399356-A-G c.4787T>C p.L1596P Missense 26/34 - 1
9-139399356-A-T c.4787T>A p.L1596H Missense 26/34 - 7
9-139399360-C-A c.4783G>T p.E1595* Nonsense 26/34 - 1
9-139399362-C-T c.4781G>A p.R1594Q Missense 26/34 - 9
9-139399362-C-A c.4781G>T p.R1594L Missense 26/34 - 1
9-139399363-G-A c.4780C>T p.R1594W Missense 26/34 - 2
9-139399365-A-G c.4778T>C p.L1593P Missense 26/34 - 8
9-139399365-CAGGAA-C c.4774_4778del p.F1592Afs*16 Frameshift 26/34 - 1
9-139399366-G-GTTC c.4776_4777insGAA p.F1592_L1593insE InFrameInsertion 26/34 - 1
9-139399366-G-GGGTTCT c.4776_4777insAGAACC p.F1592_L1593insRT InFrameInsertion 26/34 - 1
9-139399368-A-G c.4775T>C p.F1592S Missense 26/34 - 10
9-139399368-A-C c.4775T>G p.F1592C Missense 26/34 - 1
9-139399368-GAAGTGGAA-G c.4768_4775del p.F1590Pfs*17 Frameshift 26/34 - 1
9-139399369-A-T c.4774T>A p.F1592I Missense 26/34 - 1
9-139399369-A-G c.4774T>C p.F1592L Missense 26/34 - 2
9-139399367-G-T c.4776C>A p.F1592L Missense 26/34 - 2
9-139399367-G-C c.4776C>G p.F1592L Missense 26/34 - 2
9-139399370-G-C c.4773C>G p.H1591Q Missense 26/34 - 1
9-139399371-TG-GT c.4771_4772delinsAC p.H1591T Missense 26/34 - 1
9-139399375-A-G c.4768T>C p.F1590L Missense 26/34 - 1
9-139399383-T-C c.4760A>G p.N1587S Missense 26/34 - 1
9-139399384-T-TTG c.4758_4759insCA p.N1587Qfs*30 Frameshift 26/34 - 1
9-139399389-A-G c.4754T>C p.L1585P Missense 26/34 - 11
9-139399389-A-T c.4754T>A p.L1585Q Missense 26/34 - 4
9-139399389-A-C c.4754T>G p.L1585R Missense 26/34 - 1
9-139399391-C-A c.4752G>T p.Q1584H Missense 26/34 - 2
9-139399391-C-G c.4752G>C p.Q1584H Missense 26/34 - 2
9-139399392-T-A c.4751A>T p.Q1584L Missense 26/34 - 1
9-139399394-C-G c.4749G>C p.E1583D Missense 26/34 - 2
9-139399394-C-A c.4749G>T p.E1583D Missense 26/34 - 1
9-139399396-CCGGCGG-C c.4741_4746del p.P1581_P1582del InFrameDeletion 26/34 - 2
9-139399398-GGCGGCATCA-G c.4736_4744del p.L1579_P1581del InFrameDeletion 26/34 - 1
9-139399396-CCGG-C c.4744_4746del p.P1582del InFrameDeletion 26/34 - 1
9-139399399-GCGGCAT-G c.4738_4743del p.M1580_P1581del InFrameDeletion 26/34 - 1
9-139399404-A-G c.4739T>C p.M1580T Missense 26/34 - 2
9-139399403-C-CA c.4739dup p.M1580Ifs*30 Frameshift 26/34 - 1
9-139399405-T-G c.4738A>C p.M1580L Missense 26/34 - 1
9-139399405-T-A c.4738A>T p.M1580L Missense 26/34 - 1
9-139399407-A-G c.4736T>C p.L1579P Missense 26/34 - 1
9-139399405-TCAGCAC-T c.4732_4737del p.V1578_L1579del InFrameDeletion 26/34 - 1
9-139399410-A-T c.4733T>A p.V1578E Missense 26/34 - 2
9-139399410-A-C c.4733T>G p.V1578G Missense 26/34 - 1
9-139399413-A-G c.4730T>C p.V1577A Missense 26/34 - 1
9-139399413-A-C c.4730T>G p.V1577G Missense 26/34 - 1
9-139399413-A-T c.4730T>A p.V1577E Missense 26/34 - 3
9-139399414-C-G c.4729G>C p.V1577L Missense 26/34 - 1
9-139399414-C-A c.4729G>T p.V1577L Missense 26/34 - 1
9-139399416-A-T c.4727T>A p.V1576E Missense 26/34 - 2
9-139399416-A-G c.4727T>C p.V1576A Missense 26/34 - 1
9-139399408-GCACCAC-G c.4729_4734del p.V1577_V1578del InFrameDeletion 26/34 - 1
9-139399418-CAC-GAT c.4723_4725delinsATC p.V1575I Missense 26/34 - 1
9-139399419-A-G c.4724T>C p.V1575A Missense 26/34 - 1
9-139399408-GCAC-G c.4732_4734del p.V1578del InFrameDeletion 26/34 - 25
9-139399420-C-G c.4723G>C p.V1575L Missense 26/34 - 5
9-139399420-C-A c.4723G>T p.V1575L Missense 26/34 - 4
9-139399420-C-T c.4723G>A p.V1575M Missense 26/34 - 1
9-139399422-A-G c.4721T>C p.L1574P Missense 26/34 - 11
9-139399425-G-A c.4718C>T p.T1573M Missense 26/34 - 3
9-139399426-T-C c.4717A>G p.T1573A Missense 26/34 - 3
9-139399428-C-T c.4715G>A p.G1572D Missense 26/34 - 3
9-139399429-C-T c.4714G>A p.G1572S Missense 26/34 - 1
9-139399432-C-T c.4711G>A p.A1571T Missense 26/34 - 2
9-139399434-G-A c.4709C>T p.A1570V Missense 26/34 - 1
9-139399436-C-A c.4707G>T p.L1569= Synonymous 26/34 - 1
9-139399436-C-T c.4707G>A p.L1569= Synonymous 26/34 - 1
9-139399436-C-G c.4707G>C p.L1569= Synonymous 26/34 - 1
9-139399438-G-A c.4705C>T p.L1569= Synonymous 26/34 - 1
9-139399437-A-G c.4706T>C p.L1569P Missense 26/34 - 1
9-139399439-C-G c.4704G>C p.R1568S Missense 26/34 - 1
9-139399439-C-A c.4704G>T p.R1568S Missense 26/34 - 1
9-139399440-C-G c.4703G>C p.R1568T Missense 26/34 - 1
9-139399444-C-A c.4699G>T p.E1567* Nonsense 26/34 - 2
9-139399444-C-T c.4699G>A p.E1567K Missense 26/34 - 2
9-139399450-C-T c.4693G>A p.V1565I Missense 26/34 - 1
9-139399452-T-G c.4691A>C p.H1564P Missense 26/34 - 1
9-139399453-G-A c.4690C>T p.H1564Y Missense 26/34 - 1
9-139399454-C-G c.4689G>C p.E1563D Missense 26/34 - 1
9-139399454-C-A c.4689G>T p.E1563D Missense 26/34 - 1
9-139399456-C-A c.4687G>T p.E1563* Nonsense 26/34 - 1
9-139399456-CCG-C c.4685_4686del p.A1562Gfs*47 Frameshift 26/34 - 1
9-139399461-C-T c.4682G>A p.C1561Y Missense 26/34 - 1
9-139399463-G-T c.4680C>A p.D1560E Missense 26/34 - 1
9-139399468-G-GC c.4674dup p.L1559Afs*51 Frameshift 26/34 - 1
9-139399476-C-G c.4667G>C p.W1556S Missense 26/34 - 1
9-139399478-C-A c.4665G>T p.E1555D Missense 26/34 - 1
9-139399480-C-A c.4663G>T p.E1555* Nonsense 26/34 - 1
9-139399480-C-T c.4663G>A p.E1555K Missense 26/34 - 1
9-139399483-A-T c.4660T>A p.C1554S Missense 26/34 - 1
9-139399482-C-G c.4661G>C p.C1554S Missense 26/34 - 1
9-139399483-A-C c.4660T>G p.C1554G Missense 26/34 - 1
9-139399486-C-A c.4657G>T p.E1553* Nonsense 26/34 - 1
9-139399489-C-T c.4654G>A p.A1552T Missense 26/34 - 1
9-139399497-C-T c.4646G>A p.C1549Y Missense 26/34 - 1
9-139399506-T-C c.4637A>G p.D1546G Missense 26/34 - 1
9-139399508-G-A c.4635C>T p.C1545= Synonymous 26/34 - 1
9-139399512-T-G c.4631A>C p.H1544P Missense 26/34 - 1
9-139399515-C-G c.4628G>C p.G1543A Missense 26/34 - 1
9-139399516-C-T c.4627G>A p.G1543R Missense 26/34 - 2
9-139399516-C-G c.4627G>C p.G1543R Missense 26/34 - 1
9-139399520-G-C c.4623C>G p.S1541R Missense 26/34 - 1
9-139399520-G-T c.4623C>A p.S1541R Missense 26/34 - 1
9-139399522-T-G c.4621A>C p.S1541R Missense 26/34 - 1
9-139399521-C-T c.4622G>A p.S1541N Missense 26/34 - 1
9-139399530-T-A c.4613A>T p.D1538V Missense 26/34 - 1
9-139399536-C-T c.4607G>A p.C1536Y Missense 26/34 - 2
9-139399538-G-T c.4605C>A p.Y1535* Nonsense 26/34 - 1
9-139399545-T-C c.4598A>G p.D1533G Missense 26/34 - 1
9-139399547-G-T c.4596C>A p.Y1532* Nonsense 26/34 - 1
9-139399552-G-T c.4591C>A p.L1531M Missense 26/34 - 1
9-139399556-G-C c.4587C>G p.N1529K Missense 26/34 - 1
9-139399641-G-A c.4587-85C>T - IntronicSNV - 25/33 1
9-139399763-T-A c.4585A>T p.N1529Y Missense 25/34 - 1
9-139399777-G-A c.4571C>T p.A1524V Missense 25/34 - 1
9-139399781-G-A c.4567C>T p.R1523C Missense 25/34 - 1
9-139399785-G-A c.4563C>T p.C1521= Synonymous 25/34 - 1
9-139399790-C-G c.4558G>C p.D1520H Missense 25/34 - 1
9-139399795-C-A c.4553G>T p.G1518V Missense 25/34 - 1
9-139399799-C-T c.4549G>A p.D1517N Missense 25/34 - 4
9-139399799-C-A c.4549G>T p.D1517Y Missense 25/34 - 1
9-139399809-GCC-CCA c.4537_4539delinsTGG p.G1513W Missense 25/34 - 1
9-139399810-C-T c.4538G>A p.G1513D Missense 25/34 - 1
9-139399811-C-T c.4537G>A p.G1513S Missense 25/34 - 1
9-139399819-T-G c.4529A>C p.N1510T Missense 25/34 - 1
9-139399824-C-G c.4524G>C p.Q1508H Missense 25/34 - 1
9-139399826-G-A c.4522C>T p.Q1508* Nonsense 25/34 - 1
9-139399841-C-T c.4507G>A p.G1503S Missense 25/34 - 1
9-139399842-G-A c.4506C>T p.D1502= Synonymous 25/34 - 1
9-139399843-T-A c.4505A>T p.D1502V Missense 25/34 - 1
9-139399847-T-C c.4501A>G p.S1501G Missense 25/34 - 1
9-139399856-T-C c.4492A>G p.K1498E Missense 25/34 - 2
9-139399861-C-T c.4487G>A p.C1496Y Missense 25/34 - 4
9-139399865-G-T c.4483C>A p.Q1495K Missense 25/34 - 1
9-139399866-C-A c.4482G>T p.L1494= Synonymous 25/34 - 1
9-139399866-C-T c.4482G>A p.L1494= Synonymous 25/34 - 1
9-139399866-C-G c.4482G>C p.L1494= Synonymous 25/34 - 1
9-139399868-G-A c.4480C>T p.L1494= Synonymous 25/34 - 1
9-139399874-G-A c.4474C>T p.Q1492* Nonsense 25/34 - 1
9-139399876-G-A c.4472C>T p.T1491M Missense 25/34 - 1
9-139399878-G-C c.4470C>G p.C1490W Missense 25/34 - 1
9-139399884-C-G c.4464G>C p.K1488N Missense 25/34 - 1
9-139399884-C-A c.4464G>T p.K1488N Missense 25/34 - 1
9-139399887-C-A c.4461G>T p.W1487C Missense 25/34 - 2
9-139399887-C-G c.4461G>C p.W1487C Missense 25/34 - 2
9-139399891-G-T c.4457C>A p.P1486H Missense 25/34 - 1
9-139399891-G-A c.4457C>T p.P1486L Missense 25/34 - 1
9-139399897-T-C c.4451A>G p.N1484S Missense 25/34 - 1
9-139399904-T-C c.4444A>G p.N1482D Missense 25/34 - 1
9-139399909-G-T c.4439C>A p.S1480Y Missense 25/34 - 1
9-139399912-C-T c.4436G>A p.C1479Y Missense 25/34 - 1
9-139399916-C-T c.4432G>A p.D1478N Missense 25/34 - 1
9-139399922-C-A c.4426G>T p.G1476C Missense 25/34 - 1
9-139399922-C-T c.4426G>A p.G1476S Missense 25/34 - 1
9-139399927-C-T c.4421G>A p.W1474* Nonsense 25/34 - 1
9-139399926-C-T c.4422G>A p.W1474* Nonsense 25/34 - 1
9-139399928-A-T c.4420T>A p.W1474R Missense 25/34 - 1
9-139399928-A-G c.4420T>C p.W1474R Missense 25/34 - 1
9-139399932-G-C c.4416C>G p.C1472W Missense 25/34 - 1
9-139399937-C-T c.4411G>A p.A1471T Missense 25/34 - 1
9-139399940-G-T c.4408C>A p.H1470N Missense 25/34 - 1
9-139399941-G-A c.4407C>T p.N1469= Synonymous 25/34 - 1
9-139399945-T-C c.4403A>G p.N1468S Missense 25/34 - 1
9-139399948-C-T c.4400G>A p.C1467Y Missense 25/34 - 1
9-139399952-G-A c.4396C>T p.Q1466* Nonsense 25/34 - 1
9-139399976-C-T c.4372G>A p.A1458T Missense 25/34 - 1
9-139399977-G-A c.4371C>T p.D1457= Synonymous 25/34 - 1
9-139399978-T-C c.4370A>G p.D1457G Missense 25/34 - 2
9-139399991-C-A c.4357G>T p.E1453* Nonsense 25/34 - 1
9-139400004-C-T c.4344G>A p.A1448= Synonymous 25/34 - 1
9-139400005-G-A c.4343C>T p.A1448V Missense 25/34 - 2
9-139400012-C-A c.4336G>T p.E1446* Nonsense 25/34 - 1
9-139400013-CG-C c.4335del p.I1445Mfs*135 Frameshift 25/34 - 1
9-139400020-CGG-C c.4327_4328del p.P1443Afs*35 Frameshift 25/34 - 1
9-139400021-G-GC c.4326dup p.P1443Afs*36 Frameshift 25/34 - 1
9-139400023-G-A c.4325C>T p.P1442L Missense 25/34 - 2
9-139400029-A-G c.4319T>C p.I1440T Missense 25/34 - 2
9-139400033-C-T c.4315G>A p.D1439N Missense 25/34 - 2
9-139400035-C-T c.4313G>A p.R1438H Missense 25/34 - 2
9-139400036-G-A c.4312C>T p.R1438C Missense 25/34 - 2
9-139400039-C-T c.4309G>A p.G1437R Missense 25/34 - 1
9-139400042-C-G c.4306G>C p.A1436P Missense 25/34 - 1
9-139400045-C-A c.4303G>T p.G1435W Missense 25/34 - 1
9-139400046-AC-A c.4301del p.G1434Vfs*11 Frameshift 25/34 - 1
9-139400051-C-A c.4297G>T p.G1433W Missense 25/34 - 1
9-139400056-C-T c.4292G>A p.S1431N Missense 25/34 - 1
9-139400065-AG-A c.4282del p.L1428Wfs*17 Frameshift 25/34 - 1
9-139400071-TG-T c.4276del p.H1426Tfs*19 Frameshift 25/34 - 1
9-139400074-C-T c.4274G>A p.C1425Y Missense 25/34 - 2
9-139400084-C-T c.4264G>A p.G1422R Missense 25/34 - 1
9-139400084-C-G c.4264G>C p.G1422R Missense 25/34 - 1
9-139400086-T-C c.4262A>G p.N1421S Missense 25/34 - 1
9-139400095-G-C c.4253C>G p.A1418G Missense 25/34 - 1
9-139400096-C-T c.4252G>A p.A1418T Missense 25/34 - 2
9-139400101-C-A c.4247G>T p.C1416F Missense 25/34 - 1
9-139400100-GCA-G c.4246_4247del p.C1416Pfs*62 Frameshift 25/34 - 1
9-139400106-G-C c.4242C>G p.C1414W Missense 25/34 - 1
9-139400110-C-T c.4238G>A p.R1413H Missense 25/34 - 3
9-139400111-G-A c.4237C>T p.R1413C Missense 25/34 - 2
9-139400113-T-C c.4235A>G p.Y1412C Missense 25/34 - 1
9-139400116-A-C c.4232T>G p.F1411C Missense 25/34 - 1
9-139400126-C-A c.4222G>T p.E1408* Nonsense 25/34 - 1
9-139400134-G-T c.4214C>A p.P1405H Missense 25/34 - 2
9-139400142-G-T c.4206C>A p.T1402= Synonymous 25/34 - 1
9-139400142-G-C c.4206C>G p.T1402= Synonymous 25/34 - 1
9-139400142-G-A c.4206C>T p.T1402= Synonymous 25/34 - 1
9-139400143-GT-AC c.4204_4205inv p.T1402V Missense 25/34 - 1
9-139400150-G-A c.4198C>T p.Q1400* Nonsense 25/34 - 1
9-139400166-TGCCGCCCAGG-T c.4173_4182del p.C1391* Frameshift 25/34 - 1
9-139400167-C-T c.4181G>A p.G1394D Missense 25/34 - 1
9-139400168-C-T c.4180G>A p.G1394S Missense 25/34 - 1
9-139400180-G-T c.4168C>A p.P1390T Missense 25/34 - 9
9-139400180-G-A c.4168C>T p.P1390S Missense 25/34 - 1
9-139400192-G-A c.4156C>T p.P1386S Missense 25/34 - 2
9-139400196-C-A c.4152G>T p.Q1384H Missense 25/34 - 1
9-139400196-C-G c.4152G>C p.Q1384H Missense 25/34 - 1
9-139400200-C-T c.4148G>A p.C1383Y Missense 25/34 - 3
9-139400202-ATTC-A c.4144_4146del p.E1382del InFrameDeletion 25/34 - 1
9-139400209-C-T c.4139G>A p.G1380D Missense 25/34 - 1
9-139400212-G-A c.4136C>T p.T1379M Missense 25/34 - 1
9-139400214-TG-T c.4134del p.F1378Lfs*67 Frameshift 25/34 - 1
9-139400216-A-G c.4132T>C p.F1378L Missense 25/34 - 1
9-139400214-G-T c.4134C>A p.F1378L Missense 25/34 - 1
9-139400214-G-C c.4134C>G p.F1378L Missense 25/34 - 1
9-139400219-G-A c.4129C>T p.P1377S Missense 25/34 - 7
9-139400216-A-AG c.4131dup p.F1378Lfs*27 Frameshift 25/34 - 1
9-139400223-C-A c.4125G>T p.L1375= Synonymous 25/34 - 1
9-139400227-C-T c.4121G>A p.C1374Y Missense 25/34 - 1
9-139400228-A-G c.4120T>C p.C1374R Missense 25/34 - 2
9-139400237-T-G c.4111A>C p.T1371P Missense 25/34 - 1
9-139400238-G-A c.4110C>T p.P1370= Synonymous 25/34 - 1
9-139400238-G-C c.4110C>G p.P1370= Synonymous 25/34 - 1
9-139400238-G-T c.4110C>A p.P1370= Synonymous 25/34 - 1
9-139400244-G-A c.4104C>T p.R1368= Synonymous 25/34 - 1
9-139400245-C-T c.4103G>A p.R1368H Missense 25/34 - 1
9-139400252-C-A c.4096G>T p.G1366C Missense 25/34 - 1
9-139400258-T-G c.4090A>C p.I1364L Missense 25/34 - 1
9-139400275-A-C c.4073T>G p.L1358R Missense 25/34 - 1
9-139400278-C-T c.4070G>A p.C1357Y Missense 25/34 - 2
9-139400289-G-GC c.4058dup p.S1354Qfs*51 Frameshift 25/34 - 1
9-139400295-GGTACGAGC-G c.4045_4052del p.A1349Lfs*53 Frameshift 25/34 - 1
9-139400299-C-A c.4049G>T p.R1350L Missense 25/34 - 6
9-139400299-C-T c.4049G>A p.R1350H Missense 25/34 - 2
9-139400310-C-G c.4038G>C p.E1346D Missense 25/34 - 1
9-139400317-G-A c.4031C>T p.T1344M Missense 25/34 - 3
9-139400317-G-C c.4031C>G p.T1344R Missense 25/34 - 1
9-139400320-G-A c.4028C>T p.A1343V Missense 25/34 - 10
9-139400321-C-T c.4027G>A p.A1343T Missense 25/34 - 3
9-139400322-GCC-TCA c.4024_4026delinsTGA p.G1342* Nonsense 25/34 - 1
9-139400324-C-T c.4024G>A p.G1342S Missense 25/34 - 1
9-139400325-C-T c.4023G>A p.E1341= Synonymous 25/34 - 1
9-139400327-C-T c.4021G>A p.E1341K Missense 25/34 - 1
9-139400327-C-A c.4021G>T p.E1341* Nonsense 25/34 - 1
9-139400406-C-T c.4015-73G>A - IntronicSNV - 24/33 2
9-139400904-C-T c.4014+75G>A - IntronicSNV - 24/33 3
9-139400980-G-A c.4013C>T p.A1338V Missense 24/34 - 1
9-139400981-C-T c.4012G>A p.A1338T Missense 24/34 - 1
9-139400983-G-C c.4010C>G p.P1337R Missense 24/34 - 1
9-139401000-CCC-GCT c.3991_3993delinsAGC p.G1331S Missense 24/34 - 1
9-139401003-GC-TT c.3989_3990delinsAA p.R1330Q Missense 24/34 - 1
9-139401003-GCG-CCA c.3988_3990delinsTGG p.R1330W Missense 24/34 - 1
9-139401004-C-T c.3989G>A p.R1330H Missense 24/34 - 1
9-139401005-G-A c.3988C>T p.R1330C Missense 24/34 - 1
9-139401010-G-A c.3983C>T p.T1328I Missense 24/34 - 1
9-139401013-T-C c.3980A>G p.N1327S Missense 24/34 - 1
9-139401020-C-T c.3973G>A p.A1325T Missense 24/34 - 1
9-139401023-C-T c.3970G>A p.V1324M Missense 24/34 - 1
9-139401020-CCACGGCG-C c.3966_3972del p.C1322Wfs*121 Frameshift 24/34 - 1
9-139401031-GGTGC-G c.3959_3962del p.G1320Afs*124 Frameshift 24/34 - 1
9-139401039-A-T c.3954T>A p.N1318K Missense 24/34 - 2
9-139401080-C-T c.3913G>A p.E1305K Missense 24/34 - 3
9-139401081-G-A c.3912C>T p.C1304= Synonymous 24/34 - 1
9-139401084-G-T c.3909C>A p.R1303= Synonymous 24/34 - 1
9-139401084-G-C c.3909C>G p.R1303= Synonymous 24/34 - 1
9-139401084-G-A c.3909C>T p.R1303= Synonymous 24/34 - 1
9-139401086-G-T c.3907C>A p.R1303S Missense 24/34 - 1
9-139401087-GCG-CCA c.3904_3906delinsTGG p.R1302W Missense 24/34 - 1
9-139401135-C-G c.3901+33G>C - IntronicSNV - 23/33 1
9-139401170-G-A c.3899C>T p.T1300I Missense 23/34 - 1
9-139401181-A-AC c.3887dup p.A1297Cfs*50 Frameshift 23/34 - 1
9-139401189-C-A c.3880G>T p.E1294* Nonsense 23/34 - 3
9-139401190-G-A c.3879C>T p.C1293= Synonymous 23/34 - 1
9-139401193-G-C c.3876C>G p.H1292Q Missense 23/34 - 1
9-139401204-T-C c.3865A>G p.N1289D Missense 23/34 - 1
9-139401209-C-T c.3860G>A p.R1287H Missense 23/34 - 2
9-139401210-G-A c.3859C>T p.R1287C Missense 23/34 - 1
9-139401216-C-T c.3853G>A p.V1285M Missense 23/34 - 4
9-139401216-C-A c.3853G>T p.V1285L Missense 23/34 - 1
9-139401230-C-A c.3839G>T p.G1280V Missense 23/34 - 1
9-139401232-ACG-TCA c.3835_3837delinsTGA p.R1279* Nonsense 23/34 - 3
9-139401233-C-T c.3836G>A p.R1279H Missense 23/34 - 8
9-139401233-CG-TC c.3835_3836delinsGA p.R1279D Missense 23/34 - 1
9-139401234-G-A c.3835C>T p.R1279C Missense 23/34 - 3
9-139401240-C-T c.3829G>A p.D1277N Missense 23/34 - 2
9-139401259-C-T c.3810G>A p.E1270= Synonymous 23/34 - 1
9-139401259-C-A c.3810G>T p.E1270D Missense 23/34 - 2
9-139401261-C-A c.3808G>T p.E1270* Nonsense 23/34 - 2
9-139401267-AC-A c.3802del p.V1268Sfs*177 Frameshift 23/34 - 1
9-139401267-C-A c.3802G>T p.V1268F Missense 23/34 - 1
9-139401270-C-T c.3799G>A p.D1267N Missense 23/34 - 1
9-139401279-A-G c.3790T>C p.C1264R Missense 23/34 - 1
9-139401281-C-T c.3788G>A p.R1263H Missense 23/34 - 2
9-139401282-G-A c.3787C>T p.R1263C Missense 23/34 - 1
9-139401285-C-T c.3784G>A p.E1262K Missense 23/34 - 1
9-139401293-A-G c.3776T>C p.F1259S Missense 23/34 - 1
9-139401302-G-A c.3767C>T p.P1256L Missense 23/34 - 2
9-139401304-G-T c.3765C>A p.C1255* Nonsense 23/34 - 1
9-139401305-C-T c.3764G>A p.C1255Y Missense 23/34 - 1
9-139401321-C-T c.3748G>A p.G1250S Missense 23/34 - 1
9-139401322-G-A c.3747C>T p.G1249= Synonymous 23/34 - 1
9-139401323-C-G c.3746G>C p.G1249A Missense 23/34 - 1
9-139401328-C-G c.3741G>C p.Q1247H Missense 23/34 - 1
9-139401330-G-A c.3739C>T p.Q1247* Nonsense 23/34 - 1
9-139401333-C-T c.3736G>A p.D1246N Missense 23/34 - 1
9-139401336-C-T c.3733G>A p.V1245M Missense 23/34 - 1
9-139401341-G-A c.3728C>T p.T1243I Missense 23/34 - 2
9-139401360-T-A c.3709A>T p.K1237* Nonsense 23/34 - 1
9-139401362-G-A c.3707C>T p.P1236L Missense 23/34 - 1
9-139401363-G-A c.3706C>T p.P1236S Missense 23/34 - 1
9-139401368-C-T c.3701G>A p.R1234Q Missense 23/34 - 1
9-139401369-G-A c.3700C>T p.R1234W Missense 23/34 - 1
9-139401371-G-C c.3698C>G p.S1233C Missense 23/34 - 1
9-139401375-C-T c.3694G>A p.V1232M Missense 23/34 - 3
9-139401379-G-T c.3690C>A p.D1230E Missense 23/34 - 1
9-139401381-C-T c.3688G>A p.D1230N Missense 23/34 - 1
9-139401384-C-T c.3685G>A p.V1229I Missense 23/34 - 1
9-139401390-G-A c.3679C>T p.P1227S Missense 23/34 - 3
9-139401397-G-C c.3672C>G p.D1224E Missense 23/34 - 1
9-139401402-C-A c.3667G>T p.D1223Y Missense 23/34 - 1
9-139401402-C-T c.3667G>A p.D1223N Missense 23/34 - 2
9-139401405-C-T c.3664G>A p.V1222M Missense 23/34 - 2
9-139401418-G-A c.3651C>T p.H1217= Synonymous 23/34 - 1
9-139401419-T-C c.3650A>G p.H1217R Missense 23/34 - 1
9-139401504-G-A c.3644-79C>T - IntronicSNV - 22/33 3
9-139401577-C-A c.3644-152G>T - IntronicSNV - 22/33 1
9-139401577-C-G c.3644-152G>C - IntronicSNV - 22/33 1
9-139401760-G-C c.3640C>G p.Q1214E Missense 22/34 - 1
9-139401760-G-A c.3640C>T p.Q1214* Nonsense 22/34 - 1
9-139401766-C-T c.3634G>A p.G1212S Missense 22/34 - 1
9-139401768-C-T c.3632G>A p.R1211Q Missense 22/34 - 1
9-139401769-G-C c.3631C>G p.R1211G Missense 22/34 - 1
9-139401772-G-T c.3628C>A p.P1210T Missense 22/34 - 1
9-139401796-G-A c.3604C>T p.P1202S Missense 22/34 - 1
9-139401793-TG-T c.3606del p.N1203Tfs*242 Frameshift 22/34 - 1
9-139401801-T-C c.3599A>G p.D1200G Missense 22/34 - 1
9-139401802-C-T c.3598G>A p.D1200N Missense 22/34 - 2
9-139401803-G-A c.3597C>T p.L1199= Synonymous 22/34 - 1
9-139401810-G-T c.3590C>A p.T1197N Missense 22/34 - 1
9-139401813-C-T c.3587G>A p.G1196D Missense 22/34 - 2
9-139401817-C-T c.3583G>A p.G1195R Missense 22/34 - 3
9-139401817-C-G c.3583G>C p.G1195R Missense 22/34 - 3
9-139401818-G-C c.3582C>G p.N1194K Missense 22/34 - 1
9-139401831-T-C c.3569A>G p.H1190R Missense 22/34 - 1
9-139401831-T-G c.3569A>C p.H1190P Missense 22/34 - 1
9-139401838-G-A c.3562C>T p.L1188F Missense 22/34 - 1
9-139401847-C-T c.3553G>A p.D1185N Missense 22/34 - 4
9-139401848-G-T c.3552C>A p.I1184= Synonymous 22/34 - 1
9-139401848-G-A c.3552C>T p.I1184= Synonymous 22/34 - 1
9-139401851-C-A c.3549G>T p.E1183D Missense 22/34 - 1
9-139401856-C-A c.3544G>T p.E1182* Nonsense 22/34 - 1
9-139401856-C-CA c.3543dup p.E1182* Nonsense 22/34 - 1
9-139401858-G-C c.3542C>G p.S1181C Missense 22/34 - 1
9-139401858-G-A c.3542C>T p.S1181F Missense 22/34 - 1
9-139401869-C-A c.3531G>T p.G1177= Synonymous 22/34 - 1
9-139401869-C-T c.3531G>A p.G1177= Synonymous 22/34 - 1
9-139401869-C-G c.3531G>C p.G1177= Synonymous 22/34 - 1
9-139401871-C-A c.3529G>T p.G1177W Missense 22/34 - 1
9-139401867-A-AC c.3532dup p.V1178Gfs*5 Frameshift 22/34 - 1
9-139401880-C-T c.3520G>A p.G1174S Missense 22/34 - 1
9-139402419-G-A c.3498C>T p.G1166= Synonymous 21/34 - 1
9-139402421-C-T c.3496G>A p.G1166S Missense 21/34 - 1
9-139402423-C-T c.3494G>A p.G1165D Missense 21/34 - 1
9-139402432-T-A c.3485A>T p.D1162V Missense 21/34 - 1
9-139402442-T-C c.3475A>G p.T1159A Missense 21/34 - 1
9-139402444-G-A c.3473C>T p.A1158V Missense 21/34 - 1
9-139402448-C-T c.3469G>A p.G1157R Missense 21/34 - 1
9-139402454-G-A c.3463C>T p.Q1155* Nonsense 21/34 - 1
9-139402477-T-C c.3440A>G p.D1147G Missense 21/34 - 1
9-139402483-A-T c.3434T>A p.L1145Q Missense 21/34 - 1
9-139402489-T-C c.3428A>G p.E1143G Missense 21/34 - 1
9-139402492-C-T c.3425G>A p.C1142Y Missense 21/34 - 2
9-139402499-T-C c.3418A>G p.S1140G Missense 21/34 - 1
9-139402501-C-T c.3416G>A p.G1139D Missense 21/34 - 1
9-139402504-G-A c.3413C>T p.T1138I Missense 21/34 - 1
9-139402515-C-G c.3402G>C p.Q1134H Missense 21/34 - 1
9-139402516-T-C c.3401A>G p.Q1134R Missense 21/34 - 5
9-139402519-C-T c.3398G>A p.C1133Y Missense 21/34 - 4
9-139402520-A-C c.3397T>G p.C1133G Missense 21/34 - 1
9-139402520-A-T c.3397T>A p.C1133S Missense 21/34 - 1
9-139402519-C-G c.3398G>C p.C1133S Missense 21/34 - 1
9-139402520-A-G c.3397T>C p.C1133R Missense 21/34 - 1
9-139402523-G-A c.3394C>T p.R1132C Missense 21/34 - 1
9-139402525-C-A c.3392G>T p.C1131F Missense 21/34 - 1
9-139402544-C-T c.3373G>A p.A1125T Missense 21/34 - 1
9-139402544-C-A c.3373G>T p.A1125S Missense 21/34 - 1
9-139402577-G-A c.3340C>T p.R1114C Missense 21/34 - 1
9-139402583-C-T c.3334G>A p.V1112I Missense 21/34 - 3
9-139402588-A-G c.3329T>C p.V1110A Missense 21/34 - 1
9-139402589-C-T c.3328G>A p.V1110I Missense 21/34 - 1
9-139402663-T-C c.3325+21A>G - IntronicSNV - 20/33 3
9-139402687-G-A c.3322C>T p.Q1108* Nonsense 20/34 - 1
9-139402690-G-A c.3319C>T p.R1107* Nonsense 20/34 - 3
9-139402696-C-T c.3313G>A p.A1105T Missense 20/34 - 1
9-139402699-C-T c.3310G>A p.A1104T Missense 20/34 - 2
9-139402702-C-T c.3307G>A p.V1103M Missense 20/34 - 1
9-139402707-C-T c.3302G>A p.C1101Y Missense 20/34 - 1
9-139402712-C-T c.3297G>A p.V1099= Synonymous 20/34 - 1
9-139402712-C-G c.3297G>C p.V1099= Synonymous 20/34 - 1
9-139402712-C-A c.3297G>T p.V1099= Synonymous 20/34 - 1
9-139402716-C-T c.3293G>A p.S1098N Missense 20/34 - 1
9-139402720-G-A c.3289C>T p.P1097S Missense 20/34 - 1
9-139402723-C-T c.3286G>A p.V1096M Missense 20/34 - 1
9-139402726-C-T c.3283G>A p.D1095N Missense 20/34 - 1
9-139402738-C-T c.3271G>A p.G1091S Missense 20/34 - 3
9-139402738-C-A c.3271G>T p.G1091C Missense 20/34 - 1
9-139402740-G-C c.3269C>G p.T1090S Missense 20/34 - 1
9-139402741-T-A c.3268A>T p.T1090S Missense 20/34 - 1
9-139402746-C-A c.3263G>T p.G1088V Missense 20/34 - 1
9-139402754-G-C c.3255C>G p.C1085W Missense 20/34 - 1
9-139402755-C-T c.3254G>A p.C1085Y Missense 20/34 - 2
9-139402758-T-C c.3251A>G p.E1084G Missense 20/34 - 1
9-139402760-G-A c.3249C>T p.C1083= Synonymous 20/34 - 3
9-139402760-G-C c.3249C>G p.C1083W Missense 20/34 - 3
9-139402760-G-T c.3249C>A p.C1083* Nonsense 20/34 - 1
9-139402761-C-T c.3248G>A p.C1083Y Missense 20/34 - 3
9-139402762-A-G c.3247T>C p.C1083R Missense 20/34 - 1
9-139402764-C-T c.3245G>A p.R1082H Missense 20/34 - 2
9-139402765-G-A c.3244C>T p.R1082C Missense 20/34 - 1
9-139402771-G-A c.3238C>T p.Q1080* Nonsense 20/34 - 1
9-139402773-GT-CA c.3235_3236delinsTG p.T1079C Missense 20/34 - 1
9-139402773-G-A c.3236C>T p.T1079I Missense 20/34 - 1
9-139402775-G-A c.3234C>T p.H1078= Synonymous 20/34 - 1
9-139402777-G-A c.3232C>T p.H1078Y Missense 20/34 - 1
9-139402779-G-A c.3230C>T p.T1077I Missense 20/34 - 1
9-139402783-G-T c.3226C>A p.Q1076K Missense 20/34 - 1
9-139402784-C-T c.3225G>A p.W1075* Nonsense 20/34 - 2
9-139402785-C-T c.3224G>A p.W1075* Nonsense 20/34 - 2
9-139402795-C-T c.3214G>A p.G1072S Missense 20/34 - 2
9-139402804-T-G c.3205A>C p.K1069Q Missense 20/34 - 1
9-139402806-C-T c.3203G>A p.C1068Y Missense 20/34 - 1
9-139402812-G-A c.3197C>T p.S1066L Missense 20/34 - 1
9-139402823-C-T c.3186G>A p.W1062* Nonsense 20/34 - 2
9-139402829-CAC-GAT c.3178_3180delinsATC p.V1060I Missense 20/34 - 1
9-139402831-C-T c.3178G>A p.V1060M Missense 20/34 - 1
9-139402908-T-C c.3172-71A>G - IntronicSNV - 19/33 2
9-139402908-T-G c.3172-71A>C - IntronicSNV - 19/33 2
9-139402959-A-G c.3172-122T>C - IntronicSNV - 19/33 1
9-139403102-T-C c.3171+220A>G - IntronicSNV - 19/33 1
9-139403240-T-TGG c.3171+80_3171+81dup - IntronicInsertion - 19/33 2
9-139403240-T-TG c.3171+81dup - IntronicInsertion - 19/33 2
9-139403249-C-A c.3171+73G>T - IntronicSNV - 19/33 1
9-139403268-T-C c.3171+54A>G - IntronicSNV - 19/33 3
9-139403268-T-A c.3171+54A>T - IntronicSNV - 19/33 1
9-139403280-C-G c.3171+42G>C - IntronicSNV - 19/33 1
9-139403280-C-T c.3171+42G>A - IntronicSNV - 19/33 1
9-139403336-C-G c.3157G>C p.G1053R Missense 19/34 - 1
9-139403343-G-A c.3150C>T p.G1050= Synonymous 19/34 - 1
9-139403343-G-C c.3150C>G p.G1050= Synonymous 19/34 - 1
9-139403343-G-T c.3150C>A p.G1050= Synonymous 19/34 - 1
9-139403347-CT-C c.3146del p.Q1049Rfs*130 Frameshift 19/34 - 1
9-139403348-G-A c.3145C>T p.Q1049* Nonsense 19/34 - 1
9-139403356-G-A c.3137C>T p.T1046I Missense 19/34 - 1
9-139403368-GA-AT c.3124_3125delinsAT p.S1042I Missense 19/34 - 1
9-139403378-C-T c.3115G>A p.G1039S Missense 19/34 - 2
9-139403379-G-A c.3114C>T p.D1038= Synonymous 19/34 - 1
9-139403375-AGCCGTCCTGACAGGTGCC-A c.3100_3117del p.G1034_G1039del InFrameDeletion 19/34 - 1
9-139403383-T-C c.3110A>G p.Q1037R Missense 19/34 - 1
9-139403389-G-A c.3104C>T p.T1035I Missense 19/34 - 2
9-139403389-G-C c.3104C>G p.T1035S Missense 19/34 - 1
9-139403390-T-A c.3103A>T p.T1035S Missense 19/34 - 1
9-139403398-T-G c.3095A>C p.H1032P Missense 19/34 - 1
9-139403399-G-T c.3094C>A p.H1032N Missense 19/34 - 1
9-139403408-G-T c.3085C>A p.P1029T Missense 19/34 - 1
9-139403413-G-T c.3080C>A p.S1027* Nonsense 19/34 - 1
9-139403413-G-C c.3080C>G p.S1027* Nonsense 19/34 - 1
9-139403418-G-A c.3075C>T p.C1025= Synonymous 19/34 - 1
9-139403420-A-G c.3073T>C p.C1025R Missense 19/34 - 1
9-139403421-C-G c.3072G>C p.E1024D Missense 19/34 - 1
9-139403421-C-A c.3072G>T p.E1024D Missense 19/34 - 1
9-139403422-T-G c.3071A>C p.E1024A Missense 19/34 - 1
9-139403425-T-C c.3068A>G p.N1023S Missense 19/34 - 1
9-139403429-C-A c.3064G>T p.V1022F Missense 19/34 - 1
9-139403440-CA-GT c.3052_3053delinsAC p.C1018T Missense 19/34 - 1
9-139403445-G-T c.3048C>A p.S1016R Missense 19/34 - 1
9-139403446-C-A c.3047G>T p.S1016I Missense 19/34 - 1
9-139403449-C-T c.3044G>A p.G1015D Missense 19/34 - 1
9-139403452-G-A c.3041C>T p.T1014M Missense 19/34 - 4
9-139403464-G-A c.3029C>T p.P1010L Missense 19/34 - 5
9-139403471-G-A c.3022C>T p.L1008= Synonymous 19/34 - 1
9-139403482-G-A c.3011C>T p.S1004L Missense 19/34 - 5
9-139403482-G-T c.3011C>A p.S1004* Nonsense 19/34 - 1
9-139403493-G-A c.3000C>T p.D1000= Synonymous 19/34 - 1
9-139403498-C-T c.2995G>A p.V999M Missense 19/34 - 1
9-139403494-TCCACGCAGGTG-T c.2988_2998del p.T997Rfs*24 Frameshift 19/34 - 1
9-139403504-T-C c.2989A>G p.T997A Missense 19/34 - 1
9-139403507-C-G c.2986G>C p.G996R Missense 19/34 - 1
9-139403510-C-T c.2983G>A p.G995S Missense 19/34 - 2
9-139403511-G-A c.2982C>T p.N994= Synonymous 19/34 - 1
9-139403518-C-G c.2975G>C p.C992S Missense 19/34 - 1
9-139403521-G-A c.2972C>T p.S991F Missense 19/34 - 1
9-139403554-T-C c.2970-31A>G - IntronicSNV - 18/33 2
9-139403770-G-A c.2970-247C>T - IntronicSNV - 18/33 4
9-139404185-C-A c.2969G>T p.S990I Missense 18/34 - 1
9-139404195-A-T c.2959T>A p.C987S Missense 18/34 - 1
9-139404194-C-G c.2960G>C p.C987S Missense 18/34 - 1
9-139404198-C-T c.2956G>A p.D986N Missense 18/34 - 1
9-139404199-AG-TT c.2954_2955delinsAA p.P985Q Missense 18/34 - 1
9-139404201-G-C c.2953C>G p.P985A Missense 18/34 - 1
9-139404225-C-A c.2929G>T p.G977W Missense 18/34 - 1
9-139404226-CGCTGAAG-C c.2922_2928del p.F975Gfs*202 Frameshift 18/34 - 1
9-139404236-G-C c.2918C>G p.A973G Missense 18/34 - 1
9-139404237-C-T c.2917G>A p.A973T Missense 18/34 - 1
9-139404237-C-CG c.2916dup p.A973Rfs*9 Frameshift 18/34 - 1
9-139404244-G-T c.2910C>A p.T970= Synonymous 18/34 - 1
9-139404244-G-C c.2910C>G p.T970= Synonymous 18/34 - 1
9-139404244-G-A c.2910C>T p.T970= Synonymous 18/34 - 1
9-139404245-G-A c.2909C>T p.T970I Missense 18/34 - 1
9-139404246-T-C c.2908A>G p.T970A Missense 18/34 - 1
9-139404248-C-T c.2906G>A p.C969Y Missense 18/34 - 2
9-139404250-C-T c.2904G>A p.T968= Synonymous 18/34 - 1
9-139404249-ACGTGTAGCTGTCCACGCAGTC-A c.2884_2904del p.D962_T968del InFrameDeletion 18/34 - 1
9-139404256-G-C c.2898C>G p.S966R Missense 18/34 - 3
9-139404265-G-T c.2889C>A p.C963* Nonsense 18/34 - 1
9-139404271-C-T c.2883G>A p.T961= Synonymous 18/34 - 1
9-139404271-C-A c.2883G>T p.T961= Synonymous 18/34 - 1
9-139404271-C-G c.2883G>C p.T961= Synonymous 18/34 - 1
9-139404285-C-T c.2869G>A p.G957R Missense 18/34 - 1
9-139404285-C-G c.2869G>C p.G957R Missense 18/34 - 1
9-139404290-C-T c.2864G>A p.R955H Missense 18/34 - 4
9-139404291-G-A c.2863C>T p.R955C Missense 18/34 - 1
9-139404292-G-T c.2862C>A p.C954* Nonsense 18/34 - 1
9-139404296-G-T c.2858C>A p.P953H Missense 18/34 - 1
9-139404297-G-T c.2857C>A p.P953T Missense 18/34 - 1
9-139404329-C-T c.2825G>A p.C942Y Missense 18/34 - 1
9-139404337-TG-T c.2817del p.T940Lfs*239 Frameshift 18/34 - 1
9-139404341-C-A c.2813G>T p.R938L Missense 18/34 - 1
9-139404342-G-A c.2812C>T p.R938W Missense 18/34 - 1
9-139404343-G-GC c.2810_2811insG p.F937Lfs*7 Frameshift 18/34 - 1
9-139404347-C-G c.2807G>C p.G936A Missense 18/34 - 1
9-139404348-C-T c.2806G>A p.G936S Missense 18/34 - 1
9-139404356-C-A c.2798G>T p.C933F Missense 18/34 - 1
9-139404360-C-T c.2794G>A p.D932N Missense 18/34 - 3
9-139404366-A-G c.2788T>C p.F930L Missense 18/34 - 1
9-139404364-G-T c.2790C>A p.F930L Missense 18/34 - 1
9-139404364-G-C c.2790C>G p.F930L Missense 18/34 - 1
9-139404376-G-T c.2778C>A p.I926= Synonymous 18/34 - 1
9-139404376-G-A c.2778C>T p.I926= Synonymous 18/34 - 1
9-139404379-G-A c.2775C>T p.G925= Synonymous 18/34 - 1
9-139404381-C-A c.2773G>T p.G925C Missense 18/34 - 1
9-139404389-C-T c.2765G>A p.C922Y Missense 18/34 - 1
9-139404390-A-C c.2764T>G p.C922G Missense 18/34 - 1
9-139404392-G-A c.2762C>T p.S921F Missense 18/34 - 1
9-139404398-C-A c.2756G>T p.G919V Missense 18/34 - 1
9-139404895-C-G c.2740+210G>C - IntronicSNV - 17/33 1
9-139404895-C-T c.2740+210G>A - IntronicSNV - 17/33 1
9-139405093-G-A c.2740+12C>T - IntronicSNV - 17/33 2
9-139405093-G-C c.2740+12C>G - IntronicSNV - 17/33 2
9-139405093-G-T c.2740+12C>A - IntronicSNV - 17/33 2
9-139405104-C-T c.2740+1G>A - IntronicSNV - 17/33 2
9-139405104-C-A c.2740+1G>T - IntronicSNV - 17/33 1
9-139405107-G-T c.2738C>A p.P913H Missense 17/34 - 1
9-139405111-G-A c.2734C>T p.R912W Missense 17/34 - 14
9-139405116-T-G c.2729A>C p.D910A Missense 17/34 - 1
9-139405117-C-T c.2728G>A p.D910N Missense 17/34 - 1
9-139405132-C-A c.2713G>T p.E905* Nonsense 17/34 - 2
9-139405139-GCG-CTT c.2704_2706delinsAAG p.R902K Missense 17/34 - 1
9-139405140-C-T c.2705G>A p.R902H Missense 17/34 - 1
9-139405141-G-A c.2704C>T p.R902C Missense 17/34 - 3
9-139405154-G-A c.2691C>T p.A897= Synonymous 17/34 - 1
9-139405155-G-T c.2690C>A p.A897D Missense 17/34 - 1
9-139405161-C-T c.2684G>A p.C895Y Missense 17/34 - 1
9-139405164-T-C c.2681A>G p.H894R Missense 17/34 - 1
9-139405170-C-T c.2675G>A p.R892H Missense 17/34 - 2
9-139405177-C-T c.2668G>A p.G890S Missense 17/34 - 2
9-139405180-C-T c.2665G>A p.G889S Missense 17/34 - 1
9-139405181-G-A c.2664C>T p.H888= Synonymous 17/34 - 1
9-139405185-G-A c.2660C>T p.T887I Missense 17/34 - 1
9-139405191-T-C c.2654A>G p.Q885R Missense 17/34 - 1
9-139405197-G-T c.2648C>A p.S883Y Missense 17/34 - 1
9-139405201-C-T c.2644G>A p.A882T Missense 17/34 - 3
9-139405204-C-T c.2641G>A p.G881S Missense 17/34 - 3
9-139405209-C-T c.2636G>A p.R879Q Missense 17/34 - 3
9-139405210-G-A c.2635C>T p.R879W Missense 17/34 - 2
9-139405211-G-T c.2634C>A p.C878* Nonsense 17/34 - 1
9-139405217-G-A c.2628C>T p.S876= Synonymous 17/34 - 1
9-139405220-C-G c.2625G>C p.L875= Synonymous 17/34 - 1
9-139405223-A-G c.2622T>C p.V874= Synonymous 17/34 - 1
9-139405234-T-C c.2611A>G p.N871D Missense 17/34 - 1
9-139405261-C-A c.2588-4G>T - IntronicSNV - 16/33 5
9-139405261-C-G c.2588-4G>C - IntronicSNV - 16/33 5
9-139405261-C-T c.2588-4G>A - IntronicSNV - 16/33 5
9-139405361-A-G c.2588-104T>C - IntronicSNV - 16/33 2
9-139405466-G-T c.2587+138C>A - IntronicSNV - 16/33 1
9-139405475-C-T c.2587+129G>A - IntronicSNV - 16/33 1
9-139405501-A-C c.2587+103T>G - IntronicSNV - 16/33 1
9-139405501-A-G c.2587+103T>C - IntronicSNV - 16/33 1
9-139405501-A-T c.2587+103T>A - IntronicSNV - 16/33 1
9-139405530-C-T c.2587+74G>A - IntronicSNV - 16/33 1
9-139405620-G-T c.2571C>A p.C857* Nonsense 16/34 - 1
9-139405624-A-T c.2567T>A p.V856D Missense 16/34 - 1
9-139405630-G-T c.2561C>A p.S854Y Missense 16/34 - 1
9-139405641-A-T c.2550T>A p.Y850* Nonsense 16/34 - 1
9-139405640-CAT-C c.2549_2550del p.Y850* Frameshift 16/34 - 1
9-139405643-TAGTCCTCG-T c.2541_2548del p.E848* Frameshift 16/34 - 1
9-139405646-C-G c.2545G>C p.D849H Missense 16/34 - 1
9-139405648-T-C c.2543A>G p.E848G Missense 16/34 - 1
9-139405649-C-T c.2542G>A p.E848K Missense 16/34 - 3
9-139405649-C-CA c.2541_2542insT p.E848* Nonsense 16/34 - 1
9-139405654-T-G c.2537A>C p.Q846P Missense 16/34 - 1
9-139405655-G-A c.2536C>T p.Q846* Nonsense 16/34 - 2
9-139405660-C-T c.2531G>A p.C844Y Missense 16/34 - 1
9-139405663-TCCC-T c.2525_2527del p.G842del InFrameDeletion 16/34 - 1
9-139405681-G-A c.2510C>T p.P837L Missense 16/34 - 1
9-139405684-C-A c.2507G>T p.S836I Missense 16/34 - 1
9-139405684-C-T c.2507G>A p.S836N Missense 16/34 - 1
9-139405690-G-A c.2501C>T p.A834V Missense 16/34 - 1
9-139405691-C-T c.2500G>A p.A834T Missense 16/34 - 1
9-139405694-A-C c.2497T>G p.C833G Missense 16/34 - 1
9-139405696-G-A c.2495C>T p.P832L Missense 16/34 - 2
9-139405717-G-A c.2474C>T p.T825M Missense 16/34 - 2
9-139405718-T-C c.2473A>G p.T825A Missense 16/34 - 1
9-139405719-G-A c.2472C>T p.A824= Synonymous 16/34 - 1
9-139405720-G-A c.2471C>T p.A824V Missense 16/34 - 1
9-139407452-C-A c.2467+21G>T - IntronicSNV - 15/33 1
9-139407452-C-T c.2467+21G>A - IntronicSNV - 15/33 2
9-139407474-T-C c.2466A>G p.T822= Synonymous 15/34 - 1
9-139407481-G-A c.2459C>T p.P820L Missense 15/34 - 1
9-139407482-G-A c.2458C>T p.P820S Missense 15/34 - 1
9-139407487-A-G c.2453T>C p.L818P Missense 15/34 - 2
9-139407490-C-CA c.2449dup p.C817Lfs*11 Frameshift 15/34 - 1
9-139407498-C-G c.2442G>C p.K814N Missense 15/34 - 1
9-139407498-C-A c.2442G>T p.K814N Missense 15/34 - 1
9-139407499-T-G c.2441A>C p.K814T Missense 15/34 - 1
9-139407499-T-A c.2441A>T p.K814M Missense 15/34 - 1
9-139407499-T-C c.2441A>G p.K814R Missense 15/34 - 1
9-139407500-T-G c.2440A>C p.K814Q Missense 15/34 - 1
9-139407500-T-C c.2440A>G p.K814E Missense 15/34 - 1
9-139407501-G-T c.2439C>A p.Y813* Nonsense 15/34 - 1
9-139407501-G-C c.2439C>G p.Y813* Nonsense 15/34 - 1
9-139407505-C-T c.2435G>A p.G812E Missense 15/34 - 1
9-139407506-C-T c.2434G>A p.G812R Missense 15/34 - 2
9-139407506-C-A c.2434G>T p.G812W Missense 15/34 - 2
9-139407526-G-A c.2414C>T p.T805M Missense 15/34 - 1
9-139407531-C-A c.2409G>T p.Q803H Missense 15/34 - 1
9-139407531-C-G c.2409G>C p.Q803H Missense 15/34 - 1
9-139407533-G-A c.2407C>T p.Q803* Nonsense 15/34 - 1
9-139407536-T-C c.2404A>G p.N802D Missense 15/34 - 1
9-139407545-G-A c.2395C>T p.P799S Missense 15/34 - 1
9-139407553-G-T c.2387C>A p.A796E Missense 15/34 - 1
9-139407553-G-A c.2387C>T p.A796V Missense 15/34 - 1
9-139407560-C-T c.2380G>A p.E794K Missense 15/34 - 1
9-139407565-A-T c.2375T>A p.I792N Missense 15/34 - 1
9-139407570-GG-CA c.2369_2370delinsTG p.T790M Missense 15/34 - 2
9-139407570-G-A c.2370C>T p.T790= Synonymous 15/34 - 1
9-139407572-T-C c.2368A>G p.T790A Missense 15/34 - 1
9-139407584-G-A c.2356C>T p.P786S Missense 15/34 - 1
9-139407826-AACGCGCAGCCC-A c.2353+7_2353+17del - IntronicDeletion - 14/33 1
9-139407844-C-T c.2353G>A p.G785S Missense 14/34 - 1
9-139407845-G-A c.2352C>T p.S784= Synonymous 14/34 - 1
9-139407854-C-G c.2343G>C p.E781D Missense 14/34 - 1
9-139407864-G-A c.2333C>T p.T778I Missense 14/34 - 1
9-139407871-C-T c.2326G>A p.V776M Missense 14/34 - 2
9-139407876-C-T c.2321G>A p.G774D Missense 14/34 - 1
9-139407882-G-T c.2315C>A p.T772N Missense 14/34 - 1
9-139407897-G-A c.2300C>T p.T767I Missense 14/34 - 1
9-139407897-G-C c.2300C>G p.T767S Missense 14/34 - 1
9-139407901-C-T c.2296G>A p.G766S Missense 14/34 - 1
9-139407901-C-G c.2296G>C p.G766R Missense 14/34 - 1
9-139407907-T-G c.2290A>C p.N764H Missense 14/34 - 1
9-139407907-T-A c.2290A>T p.N764Y Missense 14/34 - 1
9-139407908-G-T c.2289C>A p.V763= Synonymous 14/34 - 1
9-139407908-G-C c.2289C>G p.V763= Synonymous 14/34 - 1
9-139407908-G-A c.2289C>T p.V763= Synonymous 14/34 - 1
9-139407909-A-G c.2288T>C p.V763A Missense 14/34 - 1
9-139407925-C-T c.2272G>A p.E758K Missense 14/34 - 1
9-139407931-C-A c.2266G>T p.E756* Nonsense 14/34 - 2
9-139407931-C-T c.2266G>A p.E756K Missense 14/34 - 1
9-139407932-A-G c.2265T>C p.N755= Synonymous 14/34 - 9
9-139407932-CATT-C c.2263_2265del p.N755del InFrameDeletion 14/34 - 3
9-139407943-TGTCACAGTTGGTCCCACTCCACCCAGG-T c.2227_2253del p.P743_D751del InFrameDeletion 14/34 - 1
9-139407954-G-A c.2243C>T p.T748I Missense 14/34 - 1
9-139407962-C-T c.2235G>A p.W745* Nonsense 14/34 - 3
9-139407963-C-A c.2234G>T p.W745L Missense 14/34 - 1
9-139407963-C-T c.2234G>A p.W745* Nonsense 14/34 - 2
9-139407968-A-C c.2229T>G p.P743= Synonymous 14/34 - 1
9-139407970-G-T c.2227C>A p.P743T Missense 14/34 - 1
9-139407970-G-A c.2227C>T p.P743S Missense 14/34 - 1
9-139407970-G-C c.2227C>G p.P743A Missense 14/34 - 1
9-139407968-AG-A c.2228del p.P743Lfs*29 Frameshift 14/34 - 1
9-139407978-TC-CA c.2218_2219delinsTG p.D740C Missense 14/34 - 1
9-139407979-C-T c.2218G>A p.D740N Missense 14/34 - 1
9-139407985-T-C c.2212A>G p.K738E Missense 14/34 - 1
9-139407986-G-T c.2211C>A p.Y737* Nonsense 14/34 - 1
9-139407986-G-C c.2211C>G p.Y737* Nonsense 14/34 - 1
9-139408442-C-T c.2208-453G>A - IntronicSNV - 13/33 1
9-139408551-C-A c.2207+411G>T - IntronicSNV - 13/33 1
9-139408551-C-T c.2207+411G>A - IntronicSNV - 13/33 1
9-139408892-C-T c.2207+70G>A - IntronicSNV - 13/33 3
9-139408960-A-G c.2207+2T>C - IntronicSNV - 13/33 1
9-139408961-C-T c.2207+1G>A - IntronicSNV - 13/33 1
9-139408963-C-T c.2206G>A p.G736R Missense 13/34 - 1
9-139408963-C-G c.2206G>C p.G736R Missense 13/34 - 1
9-139408965-T-C c.2204A>G p.N735S Missense 13/34 - 1
9-139408966-T-C c.2203A>G p.N735D Missense 13/34 - 1
9-139408968-A-T c.2201T>A p.L734H Missense 13/34 - 1
9-139408969-GGCT-G c.2197_2199del p.S733del InFrameDeletion 13/34 - 1
9-139408975-C-T c.2194G>A p.D732N Missense 13/34 - 1
9-139408978-G-A c.2191C>T p.R731W Missense 13/34 - 1
9-139408990-G-A c.2179C>T p.H727Y Missense 13/34 - 1
9-139408993-C-T c.2176G>A p.V726I Missense 13/34 - 1
9-139408994-G-A c.2175C>T p.C725= Synonymous 13/34 - 1
9-139409004-C-T c.2165G>A p.S722N Missense 13/34 - 1
9-139409010-C-A c.2159G>T p.C720F Missense 13/34 - 1
9-139409014-C-A c.2155G>T p.E719* Nonsense 13/34 - 1
9-139409016-T-C c.2153A>G p.N718S Missense 13/34 - 2
9-139409020-C-A c.2149G>T p.V717F Missense 13/34 - 1
9-139409023-C-A c.2146G>T p.E716* Nonsense 13/34 - 1
9-139409034-G-A c.2135C>T p.T712I Missense 13/34 - 1
9-139409036-G-A c.2133C>T p.P711= Synonymous 13/34 - 1
9-139409036-G-C c.2133C>G p.P711= Synonymous 13/34 - 1
9-139409036-G-T c.2133C>A p.P711= Synonymous 13/34 - 1
9-139409035-TG-T c.2133del p.T712Pfs*60 Frameshift 13/34 - 1
9-139409039-G-A c.2130C>T p.D710= Synonymous 13/34 - 1
9-139409041-C-T c.2128G>A p.D710N Missense 13/34 - 1
9-139409055-GG-AC c.2113_2114delinsGT p.P705V Missense 13/34 - 1
9-139409057-G-A c.2112C>T p.C704= Synonymous 13/34 - 1
9-139409061-C-T c.2108G>A p.R703H Missense 13/34 - 3
9-139409062-G-A c.2107C>T p.R703C Missense 13/34 - 1
9-139409067-G-A c.2102C>T p.T701I Missense 13/34 - 1
9-139409068-T-G c.2101A>C p.T701P Missense 13/34 - 1
9-139409073-C-G c.2096G>C p.G699A Missense 13/34 - 1
9-139409074-C-A c.2095G>T p.G699C Missense 13/34 - 1
9-139409083-C-T c.2086G>A p.G696S Missense 13/34 - 3
9-139409088-T-A c.2081A>T p.E694V Missense 13/34 - 1
9-139409089-C-A c.2080G>T p.E694* Nonsense 13/34 - 1
9-139409089-C-T c.2080G>A p.E694K Missense 13/34 - 3
9-139409090-G-T c.2079C>A p.C693* Nonsense 13/34 - 2
9-139409090-G-C c.2079C>G p.C693W Missense 13/34 - 1
9-139409098-C-T c.2071G>A p.G691S Missense 13/34 - 1
9-139409115-T-A c.2054A>T p.N685I Missense 13/34 - 1
9-139409115-T-C c.2054A>G p.N685S Missense 13/34 - 1
9-139409118-C-G c.2051G>C p.G684A Missense 13/34 - 2
9-139409119-C-A c.2050G>T p.G684C Missense 13/34 - 1
9-139409121-G-C c.2048C>G p.A683G Missense 13/34 - 1
9-139409122-C-T c.2047G>A p.A683T Missense 13/34 - 6
9-139409128-C-A c.2041G>T p.E681* Nonsense 13/34 - 1
9-139409131-C-T c.2038G>A p.D680N Missense 13/34 - 4
9-139409131-C-CA c.2037_2038insT p.D680* Nonsense 13/34 - 1
9-139409132-G-A c.2037C>T p.I679= Synonymous 13/34 - 1
9-139409152-T-C c.2017A>G p.S673G Missense 13/34 - 1
9-139409548-C-A c.2014+194G>T - IntronicSNV - 12/33 1
9-139409648-G-A c.2014+94C>T - IntronicSNV - 12/33 3
9-139409754-G-A c.2002C>T p.P668S Missense 12/34 - 6
9-139409755-C-G c.2001G>C p.E667D Missense 12/34 - 1
9-139409755-C-A c.2001G>T p.E667D Missense 12/34 - 1
9-139409756-T-A c.2000A>T p.E667V Missense 12/34 - 1
9-139409768-T-C c.1988A>G p.E663G Missense 12/34 - 1
9-139409769-TC-T c.1987del p.E663Sfs*109 Frameshift 12/34 - 1
9-139409775-C-T c.1981G>A p.G661S Missense 12/34 - 7
9-139409778-C-T c.1978G>A p.D660N Missense 12/34 - 2
9-139409783-T-C c.1973A>G p.K658R Missense 12/34 - 1
9-139409786-TC-T c.1969del p.D657Tfs*115 Frameshift 12/34 - 2
9-139409790-G-C c.1966C>G p.L656V Missense 12/34 - 1
9-139409795-G-C c.1961C>G p.T654S Missense 12/34 - 1
9-139409796-T-A c.1960A>T p.T654S Missense 12/34 - 1
9-139409797-GCCCGAGT-G c.1952_1958del p.D651Afs*119 Frameshift 12/34 - 1
9-139409799-C-A c.1957G>T p.G653C Missense 12/34 - 2
9-139409800-C-T c.1956G>A p.S652= Synonymous 12/34 - 1
9-139409801-G-C c.1955C>G p.S652W Missense 12/34 - 1
9-139409805-C-CA c.1950_1951insT p.D651* Nonsense 12/34 - 1
9-139409811-G-T c.1945C>A p.P649T Missense 12/34 - 1
9-139409815-G-A c.1941C>T p.S647= Synonymous 12/34 - 1
9-139409819-GCA-G c.1935_1936del p.A646Qfs*21 Frameshift 12/34 - 1
9-139409829-C-T c.1927G>A p.D643N Missense 12/34 - 1
9-139409828-T-TC c.1927dup p.D643Gfs*2 Frameshift 12/34 - 1
9-139409839-C-G c.1917G>C p.E639D Missense 12/34 - 1
9-139409839-C-T c.1917G>A p.E639= Synonymous 12/34 - 1
9-139409839-C-A c.1917G>T p.E639D Missense 12/34 - 1
9-139409842-G-A c.1914C>T p.C638= Synonymous 12/34 - 1
9-139409909-CGCCGGCCACCCGCCTG-C c.1903+10_1903+25del - IntronicDeletion 11/34 11/33 1
9-139409921-G-A c.1903+14C>T - IntronicSNV - 11/33 1
9-139409928-C-T c.1903+7G>A - IntronicSNV - 11/33 2
9-139409935-C-CG c.1902_1903insC p.G635Rfs*10 SpliceDonorInsertion 11/34 - 1
9-139409935-C-CA c.1902_1903insT p.G635Wfs*10 SpliceDonorInsertion 11/34 - 1
9-139409935-C-CT c.1902dup p.G635Rfs*10 SpliceDonorInsertion 11/34 - 1
9-139409944-C-T c.1894G>A p.G632R Missense 11/34 - 1
9-139409944-C-G c.1894G>C p.G632R Missense 11/34 - 1
9-139409941-T-TC c.1896dup p.T633Dfs*12 Frameshift 11/34 - 1
9-139409951-G-T c.1887C>A p.C629* Nonsense 11/34 - 1
9-139409952-C-G c.1886G>C p.C629S Missense 11/34 - 1
9-139409968-C-T c.1870G>A p.A624T Missense 11/34 - 1
9-139409969-G-C c.1869C>G p.N623K Missense 11/34 - 1
9-139409969-G-T c.1869C>A p.N623K Missense 11/34 - 1
9-139409970-T-C c.1868A>G p.N623S Missense 11/34 - 1
9-139409976-C-T c.1862G>A p.R621H Missense 11/34 - 3
9-139409977-G-A c.1861C>T p.R621C Missense 11/34 - 1
9-139409980-C-A c.1858G>T p.D620Y Missense 11/34 - 1
9-139409982-T-C c.1856A>G p.Q619R Missense 11/34 - 1
9-139409983-G-A c.1855C>T p.Q619* Nonsense 11/34 - 1
9-139409985-CA-GT c.1852_1853delinsAC p.C618T Missense 11/34 - 1
9-139410000-C-A c.1838G>T p.R613L Missense 11/34 - 1
9-139410000-C-T c.1838G>A p.R613H Missense 11/34 - 2
9-139410010-G-A c.1828C>T p.Q610* Nonsense 11/34 - 1
9-139410015-G-T c.1823C>A p.S608Y Missense 11/34 - 1
9-139410018-C-T c.1820G>A p.C607Y Missense 11/34 - 2
9-139410022-C-T c.1816G>A p.E606K Missense 11/34 - 2
9-139410029-G-C c.1809C>G p.N603K Missense 11/34 - 1
9-139410033-G-C c.1805C>G p.T602S Missense 11/34 - 1
9-139410037-C-T c.1801G>A p.E601K Missense 11/34 - 1
9-139410038-G-C c.1800C>G p.C600W Missense 11/34 - 1
9-139410046-G-A c.1792C>T p.H598Y Missense 11/34 - 1
9-139410051-G-A c.1787C>T p.T596M Missense 11/34 - 11
9-139410052-T-C c.1786A>G p.T596A Missense 11/34 - 1
9-139410057-C-A c.1781G>T p.G594V Missense 11/34 - 1
9-139410063-C-T c.1775G>A p.R592H Missense 11/34 - 1
9-139410069-A-C c.1769T>G p.L590R Missense 11/34 - 1
9-139410070-G-A c.1768C>T p.L590F Missense 11/34 - 1
9-139410075-G-A c.1763C>T p.T588I Missense 11/34 - 1
9-139410076-T-G c.1762A>C p.T588P Missense 11/34 - 1
9-139410081-G-A c.1757C>T p.T586I Missense 11/34 - 1
9-139410082-T-C c.1756A>G p.T586A Missense 11/34 - 1
9-139410088-C-T c.1750G>A p.V584I Missense 11/34 - 1
9-139410094-C-T c.1744G>A p.D582N Missense 11/34 - 1
9-139410097-T-C c.1741A>G p.K581E Missense 11/34 - 1
9-139410098-G-T c.1740C>A p.C580* Nonsense 11/34 - 1
9-139410099-C-T c.1739G>A p.C580Y Missense 11/34 - 1
9-139410102-G-C c.1736C>G p.S579C Missense 11/34 - 1
9-139410103-A-T c.1735T>A p.S579T Missense 11/34 - 1
9-139410112-G-A c.1726C>T p.H576Y Missense 11/34 - 1
9-139410118-G-A c.1720C>T p.P574S Missense 11/34 - 1
9-139410120-T-G c.1718A>C p.D573A Missense 11/34 - 3
9-139410121-C-G c.1717G>C p.D573H Missense 11/34 - 2
9-139410126-T-G c.1712A>C p.D571A Missense 11/34 - 1
9-139410136-C-A c.1702G>T p.D568Y Missense 11/34 - 1
9-139410139-T-C c.1699A>G p.I567V Missense 11/34 - 4
9-139410143-CAC-GAT c.1693_1695delinsATC p.V565I Missense 11/34 - 2
9-139410148-C-T c.1690G>A p.E564K Missense 11/34 - 1
9-139410151-A-G c.1687T>C p.C563R Missense 11/34 - 1
9-139410151-A-T c.1687T>A p.C563S Missense 11/34 - 1
9-139410150-C-G c.1688G>C p.C563S Missense 11/34 - 1
9-139410154-G-A c.1684C>T p.H562Y Missense 11/34 - 1
9-139410154-G-C c.1684C>G p.H562D Missense 11/34 - 1
9-139410155-C-T c.1683G>A p.T561= Synonymous 11/34 - 1
9-139410155-C-A c.1683G>T p.T561= Synonymous 11/34 - 1
9-139410155-C-G c.1683G>C p.T561= Synonymous 11/34 - 1
9-139410156-G-A c.1682C>T p.T561M Missense 11/34 - 4
9-139410156-G-C c.1682C>G p.T561R Missense 11/34 - 1
9-139410161-CG-GA c.1676_1677delinsTC p.T559I Missense 11/34 - 1
9-139410162-G-C c.1676C>G p.T559R Missense 11/34 - 1
9-139410162-G-A c.1676C>T p.T559M Missense 11/34 - 1
9-139410166-A-T c.1672T>A p.Y558N Missense 11/34 - 1
9-139410177-T-C c.1670-9A>G - IntronicSNV - 10/33 6
9-139410300-TGGGGCTGA-T c.1669+125_1669+132del - IntronicDeletion - 10/33 1
9-139410424-A-G c.1669+9T>C - IntronicSNV - 10/33 2
9-139410436-C-T c.1666G>A p.E556K Missense 10/34 - 1
9-139410440-G-T c.1662C>A p.C554* Nonsense 10/34 - 2
9-139410441-CA-GT c.1660_1661delinsAC p.C554T Missense 10/34 - 1
9-139410441-C-T c.1661G>A p.C554Y Missense 10/34 - 1
9-139410446-A-T c.1656T>A p.C552* Nonsense 10/34 - 1
9-139410447-C-T c.1655G>A p.C552Y Missense 10/34 - 1
9-139410450-G-A c.1652C>T p.T551I Missense 10/34 - 1
9-139410450-G-GT c.1651dup p.T551Nfs*19 Frameshift 10/34 - 1
9-139410452-G-T c.1650C>A p.Y550* Nonsense 10/34 - 2
9-139410452-G-C c.1650C>G p.Y550* Nonsense 10/34 - 2
9-139410452-TG-T c.1650del p.Y550* Frameshift 10/34 - 1
9-139410452-G-GT c.1649dup p.Y550* Nonsense 10/34 - 3
9-139410462-G-T c.1640C>A p.P547H Missense 10/34 - 1
9-139410465-C-A c.1637G>T p.G546V Missense 10/34 - 1
9-139410466-C-T c.1636G>A p.G546R Missense 10/34 - 1
9-139410466-C-G c.1636G>C p.G546R Missense 10/34 - 1
9-139410467-G-A c.1635C>T p.D545= Synonymous 10/34 - 1
9-139410469-C-T c.1633G>A p.D545N Missense 10/34 - 1
9-139410476-C-T c.1626G>A p.K542= Synonymous 10/34 - 1
9-139410493-CA-C c.1609del p.C537Afs*94 Frameshift 10/34 - 1
9-139410495-G-C c.1607C>G p.P536R Missense 10/34 - 1
9-139410504-G-A c.1598C>T p.A533V Missense 10/34 - 1
9-139410511-C-A c.1591G>T p.E531* Nonsense 10/34 - 1
9-139410521-G-T c.1581C>A p.Y527* Nonsense 10/34 - 1
9-139410521-G-C c.1581C>G p.Y527* Nonsense 10/34 - 1
9-139410525-T-G c.1577A>C p.Q526P Missense 10/34 - 1
9-139410525-T-C c.1577A>G p.Q526R Missense 10/34 - 1
9-139410526-G-A c.1576C>T p.Q526* Nonsense 10/34 - 1
9-139410546-C-T c.1556G>A p.G519D Missense 10/34 - 1
9-139410589-A-C c.1556-43T>G - IntronicSNV - 9/33 3
9-139410589-A-G c.1556-43T>C - IntronicSNV - 9/33 3
9-139410679-T-C c.1556-133A>G - IntronicSNV - 9/33 1
9-139411374-A-G c.1555+350T>C - IntronicSNV - 9/33 1
9-139411619-G-A c.1555+105C>T - IntronicSNV - 9/33 2
9-139411622-G-A c.1555+102C>T - IntronicSNV - 9/33 2
9-139411622-G-C c.1555+102C>G - IntronicSNV - 9/33 2
9-139411638-G-A c.1555+86C>T - IntronicSNV - 9/33 1
9-139411714-T-C c.1555+10A>G - IntronicSNV - 9/33 3
9-139411714-T-G c.1555+10A>C - IntronicSNV - 9/33 2
9-139411726-G-A c.1553C>T p.T518M Missense 9/34 - 2
9-139411736-C-A c.1543G>T p.E515* Nonsense 9/34 - 1
9-139411738-CA-GT c.1540_1541delinsAC p.C514T Missense 9/34 - 1
9-139411740-C-A c.1539G>T p.Q513H Missense 9/34 - 1
9-139411740-C-G c.1539G>C p.Q513H Missense 9/34 - 1
9-139411750-TT-AC c.1528_1529delinsGT p.N510V Missense 9/34 - 1
9-139411756-T-A c.1523A>T p.K508M Missense 9/34 - 1
9-139411768-C-T c.1511G>A p.R504H Missense 9/34 - 4
9-139411769-G-A c.1510C>T p.R504C Missense 9/34 - 1
9-139411779-CAG-AAA c.1498_1500delinsTTT p.L500F Missense 9/34 - 1
9-139411782-G-T c.1497C>A p.C499* Nonsense 9/34 - 1
9-139411783-C-A c.1496G>T p.C499F Missense 9/34 - 1
9-139411783-C-T c.1496G>A p.C499Y Missense 9/34 - 1
9-139411786-G-A c.1493C>T p.P498L Missense 9/34 - 2
9-139411786-G-C c.1493C>G p.P498R Missense 9/34 - 1
9-139411788-G-A c.1491C>T p.S497= Synonymous 9/34 - 1
9-139411792-C-G c.1487G>C p.S496T Missense 9/34 - 1
9-139411796-C-T c.1483G>A p.A495T Missense 9/34 - 1
9-139411800-C-T c.1479G>A p.E493= Synonymous 9/34 - 1
9-139411809-G-A c.1470C>T p.N490= Synonymous 9/34 - 1
9-139411814-C-T c.1465G>A p.V489I Missense 9/34 - 1
9-139411815-C-T c.1464G>A p.E488= Synonymous 9/34 - 1
9-139411816-T-G c.1463A>C p.E488A Missense 9/34 - 1
9-139411817-C-T c.1462G>A p.E488K Missense 9/34 - 1
9-139411822-T-A c.1457A>T p.H486L Missense 9/34 - 1
9-139411828-C-A c.1451G>T p.G484V Missense 9/34 - 3
9-139411834-T-C c.1445A>G p.Y482C Missense 9/34 - 1
9-139411837-C-A c.1442G>T p.G481V Missense 9/34 - 2
9-139411880-G-A c.1442-43C>T - IntronicSNV - 8/33 2
9-139412197-G-A c.1441+7C>T - IntronicSNV - 8/33 3
9-139412197-G-C c.1441+7C>G - IntronicSNV - 8/33 1
9-139412195-CCGACGCACCGGG-C c.1438_1441+8del - SpliceDonorDeletion 8/34 8/33 1
9-139412203-C-A c.1441+1G>T - IntronicSNV - 8/33 1
9-139412204-C-T c.1441G>A p.G481S Missense 8/34 - 3
9-139412204-C-A c.1441G>T p.G481C Missense 8/34 - 1
9-139412212-C-A c.1433G>T p.C478F Missense 8/34 - 4
9-139412212-C-T c.1433G>A p.C478Y Missense 8/34 - 2
9-139412213-A-G c.1432T>C p.C478R Missense 8/34 - 1
9-139412213-A-T c.1432T>A p.C478S Missense 8/34 - 1
9-139412212-C-G c.1433G>C p.C478S Missense 8/34 - 1
9-139412215-A-T c.1430T>A p.I477N Missense 8/34 - 1
9-139412217-G-T c.1428C>A p.C476* Nonsense 8/34 - 1
9-139412222-G-T c.1423C>A p.Q475K Missense 8/34 - 1
9-139412223-G-A c.1422C>T p.F474= Synonymous 8/34 - 1
9-139412225-A-T c.1420T>A p.F474I Missense 8/34 - 1
9-139412228-C-A c.1417G>T p.E473* Nonsense 8/34 - 1
9-139412230-C-T c.1415G>A p.G472E Missense 8/34 - 1
9-139412231-C-A c.1414G>T p.G472W Missense 8/34 - 1
9-139412235-C-G c.1410G>C p.Q470H Missense 8/34 - 1
9-139412239-T-C c.1406A>G p.D469G Missense 8/34 - 2
9-139412240-C-T c.1405G>A p.D469N Missense 8/34 - 1
9-139412240-C-A c.1405G>T p.D469Y Missense 8/34 - 1
9-139412242-A-T c.1403T>A p.L468Q Missense 8/34 - 2
9-139412242-A-AC c.1402_1403insG p.L468Rfs*44 Frameshift 8/34 - 1
9-139412243-G-C c.1402C>G p.L468V Missense 8/34 - 1
9-139412243-G-T c.1402C>A p.L468M Missense 8/34 - 1
9-139412245-C-A c.1400G>T p.C467F Missense 8/34 - 2
9-139412245-C-T c.1400G>A p.C467Y Missense 8/34 - 1
9-139412248-GT-AC c.1396_1397inv p.T466V Missense 8/34 - 3
9-139412248-G-C c.1397C>G p.T466S Missense 8/34 - 1
9-139412249-T-A c.1396A>T p.T466S Missense 8/34 - 1
9-139412249-T-C c.1396A>G p.T466A Missense 8/34 - 3
9-139412251-GC-CA c.1393_1394delinsTG p.A465C Missense 8/34 - 1
9-139412252-C-T c.1393G>A p.A465T Missense 8/34 - 20
9-139412255-C-T c.1390G>A p.D464N Missense 8/34 - 3
9-139412251-GCGT-G c.1391_1393del p.D464del InFrameDeletion 8/34 - 1
9-139412255-C-A c.1390G>T p.D464Y Missense 8/34 - 1
9-139412258-T-C c.1387A>G p.N463D Missense 8/34 - 1
9-139412260-T-G c.1385A>C p.Q462P Missense 8/34 - 1
9-139412261-G-A c.1384C>T p.Q462* Nonsense 8/34 - 1
9-139412262-G-A c.1383C>T p.C461= Synonymous 8/34 - 1
9-139412263-C-T c.1382G>A p.C461Y Missense 8/34 - 2
9-139412263-C-A c.1382G>T p.C461F Missense 8/34 - 1
9-139412264-A-C c.1381T>G p.C461G Missense 8/34 - 1
9-139412264-A-T c.1381T>A p.C461S Missense 8/34 - 1
9-139412263-C-G c.1382G>C p.C461S Missense 8/34 - 1
9-139412266-G-A c.1379C>T p.P460L Missense 8/34 - 4
9-139412266-G-T c.1379C>A p.P460Q Missense 8/34 - 2
9-139412267-G-A c.1378C>T p.P460S Missense 8/34 - 1
9-139412269-T-C c.1376A>G p.N459S Missense 8/34 - 1
9-139412270-T-C c.1375A>G p.N459D Missense 8/34 - 1
9-139412271-C-A c.1374G>T p.S458= Synonymous 8/34 - 1
9-139412271-C-G c.1374G>C p.S458= Synonymous 8/34 - 1
9-139412271-C-T c.1374G>A p.S458= Synonymous 8/34 - 1
9-139412272-G-A c.1373C>T p.S458L Missense 8/34 - 1
9-139412273-A-G c.1372T>C p.S458P Missense 8/34 - 1
9-139412278-C-T c.1367G>A p.C456Y Missense 8/34 - 2
9-139412278-C-A c.1367G>T p.C456F Missense 8/34 - 1
9-139412279-A-T c.1366T>A p.C456S Missense 8/34 - 2
9-139412279-A-G c.1366T>C p.C456R Missense 8/34 - 2
9-139412280-C-A c.1365G>T p.E455D Missense 8/34 - 1
9-139412282-C-T c.1363G>A p.E455K Missense 8/34 - 5
9-139412282-C-A c.1363G>T p.E455* Nonsense 8/34 - 1
9-139412282-CGTT-C c.1360_1362del p.N454del InFrameDeletion 8/34 - 1
9-139412284-T-G c.1361A>C p.N454T Missense 8/34 - 1
9-139412288-C-T c.1357G>A p.V453I Missense 8/34 - 1
9-139412291-C-T c.1354G>A p.D452N Missense 8/34 - 2
9-139412297-C-T c.1348G>A p.E450K Missense 8/34 - 8
9-139412297-C-A c.1348G>T p.E450* Nonsense 8/34 - 1
9-139412298-G-T c.1347C>A p.C449* Nonsense 8/34 - 1
9-139412300-A-G c.1345T>C p.C449R Missense 8/34 - 2
9-139412300-A-C c.1345T>G p.C449G Missense 8/34 - 1
9-139412302-C-T c.1343G>A p.R448Q Missense 8/34 - 4
9-139412302-C-G c.1343G>C p.R448P Missense 8/34 - 1
9-139412303-G-A c.1342C>T p.R448* Nonsense 8/34 - 4
9-139412307-G-A c.1338C>T p.G446= Synonymous 8/34 - 2
9-139412307-G-C c.1338C>G p.G446= Synonymous 8/34 - 2
9-139412307-G-T c.1338C>A p.G446= Synonymous 8/34 - 2
9-139412309-C-T c.1336G>A p.G446S Missense 8/34 - 1
9-139412310-C-T c.1335G>A p.T445= Synonymous 8/34 - 1
9-139412310-C-A c.1335G>T p.T445= Synonymous 8/34 - 1
9-139412310-C-G c.1335G>C p.T445= Synonymous 8/34 - 1
9-139412311-G-A c.1334C>T p.T445M Missense 8/34 - 3
9-139412314-T-C c.1331A>G p.Y444C Missense 8/34 - 1
9-139412315-A-T c.1330T>A p.Y444N Missense 8/34 - 1
9-139412317-C-T c.1328G>A p.G443D Missense 8/34 - 1
9-139412319-C-A c.1326G>T p.Q442H Missense 8/34 - 1
9-139412319-C-G c.1326G>C p.Q442H Missense 8/34 - 1
9-139412321-G-A c.1324C>T p.Q442* Nonsense 8/34 - 2
9-139412322-C-A c.1323G>T p.L441= Synonymous 8/34 - 1
9-139412322-C-T c.1323G>A p.L441= Synonymous 8/34 - 1
9-139412322-C-G c.1323G>C p.L441= Synonymous 8/34 - 1
9-139412324-G-A c.1321C>T p.L441= Synonymous 8/34 - 1
9-139412326-C-A c.1319G>T p.C440F Missense 8/34 - 2
9-139412326-C-T c.1319G>A p.C440Y Missense 8/34 - 1
9-139412327-A-G c.1318T>C p.C440R Missense 8/34 - 1
9-139412327-A-C c.1318T>G p.C440G Missense 8/34 - 1
9-139412330-G-A c.1315C>T p.Q439* Nonsense 8/34 - 1
9-139412331-G-C c.1314C>G p.C438W Missense 8/34 - 1
9-139412332-C-T c.1313G>A p.C438Y Missense 8/34 - 1
9-139412332-C-A c.1313G>T p.C438F Missense 8/34 - 1
9-139412336-C-A c.1309G>T p.E437* Nonsense 8/34 - 1
9-139412336-C-T c.1309G>A p.E437K Missense 8/34 - 1
9-139412336-CGAA-C c.1306_1308del p.F436del InFrameDeletion 8/34 - 1
9-139412339-A-G c.1306T>C p.F436L Missense 8/34 - 1
9-139412337-G-T c.1308C>A p.F436L Missense 8/34 - 1
9-139412337-G-C c.1308C>G p.F436L Missense 8/34 - 1
9-139412340-G-A c.1305C>T p.S435= Synonymous 8/34 - 1
9-139412340-G-C c.1305C>G p.S435= Synonymous 8/34 - 1
9-139412340-G-T c.1305C>A p.S435= Synonymous 8/34 - 1
9-139412342-A-C c.1303T>G p.S435A Missense 8/34 - 1
9-139412345-C-A c.1300G>T p.G434C Missense 8/34 - 1
9-139412350-G-A c.1295C>T p.T432M Missense 8/34 - 2
9-139412352-G-T c.1293C>A p.N431K Missense 8/34 - 1
9-139412355-G-T c.1290C>A p.I430= Synonymous 8/34 - 1
9-139412355-G-A c.1290C>T p.I430= Synonymous 8/34 - 1
9-139412357-T-C c.1288A>G p.I430V Missense 8/34 - 2
9-139412359-C-T c.1286G>A p.C429Y Missense 8/34 - 3
9-139412360-A-G c.1285T>C p.C429R Missense 8/34 - 2
9-139412360-A-C c.1285T>G p.C429G Missense 8/34 - 1
9-139412360-A-T c.1285T>A p.C429S Missense 8/34 - 2
9-139412359-C-G c.1286G>C p.C429S Missense 8/34 - 2
9-139412365-C-T c.1280G>A p.G427D Missense 8/34 - 1
9-139412372-G-A c.1273C>T p.H425Y Missense 8/34 - 1
9-139412373-C-G c.1272G>C p.E424D Missense 8/34 - 1
9-139412373-C-A c.1272G>T p.E424D Missense 8/34 - 1
9-139412373-C-T c.1272G>A p.E424= Synonymous 8/34 - 1
9-139412375-C-T c.1270G>A p.E424K Missense 8/34 - 8
9-139412376-G-T c.1269C>A p.C423* Nonsense 8/34 - 1
9-139412376-G-A c.1269C>T p.C423= Synonymous 8/34 - 1
9-139412376-G-C c.1269C>G p.C423W Missense 8/34 - 1
9-139412377-C-A c.1268G>T p.C423F Missense 8/34 - 1
9-139412377-C-T c.1268G>A p.C423Y Missense 8/34 - 1
9-139412378-A-G c.1267T>C p.C423R Missense 8/34 - 1
9-139412378-A-C c.1267T>G p.C423G Missense 8/34 - 1
9-139412380-G-C c.1265C>G p.P422R Missense 8/34 - 1
9-139412381-G-A c.1264C>T p.P422S Missense 8/34 - 2
9-139412381-G-T c.1264C>A p.P422T Missense 8/34 - 1
9-139412382-G-A c.1263C>T p.N421= Synonymous 8/34 - 1
9-139412386-G-A c.1259C>T p.A420V Missense 8/34 - 1
9-139412387-C-T c.1258G>A p.A420T Missense 8/34 - 1
9-139412389-C-T c.1256G>A p.G419D Missense 8/34 - 2
9-139412588-C-T c.1255+1G>A - IntronicSNV - 7/33 1
9-139412588-C-A c.1255+1G>T - IntronicSNV - 7/33 1
9-139412589-C-T c.1255G>A p.G419S Missense 7/34 - 1
9-139412591-A-G c.1253T>C p.L418P Missense 7/34 - 2
9-139412589-CCAG-C c.1252_1254del p.L418del InFrameDeletion 7/34 - 1
9-139412594-G-T c.1250C>A p.S417* Nonsense 7/34 - 1
9-139412596-G-C c.1248C>G p.C416W Missense 7/34 - 1
9-139412599-C-G c.1245G>C p.E415D Missense 7/34 - 1
9-139412599-C-A c.1245G>T p.E415D Missense 7/34 - 1
9-139412601-C-G c.1243G>C p.E415Q Missense 7/34 - 1
9-139412607-C-T c.1237G>A p.V413M Missense 7/34 - 1
9-139412607-CGTCCTGGCTGCAG-C c.1224_1236del p.C409Wfs*218 Frameshift 7/34 - 1
9-139412610-C-A c.1234G>T p.D412Y Missense 7/34 - 1
9-139412613-G-A c.1231C>T p.Q411* Nonsense 7/34 - 1
9-139412614-G-C c.1230C>G p.S410R Missense 7/34 - 1
9-139412614-G-T c.1230C>A p.S410R Missense 7/34 - 1
9-139412616-T-G c.1228A>C p.S410R Missense 7/34 - 1
9-139412615-C-G c.1229G>C p.S410T Missense 7/34 - 1
9-139412618-C-T c.1226G>A p.C409Y Missense 7/34 - 1
9-139412621-G-A c.1223C>T p.A408V Missense 7/34 - 1
9-139412623-C-A c.1221G>T p.P407= Synonymous 7/34 - 1
9-139412623-C-T c.1221G>A p.P407= Synonymous 7/34 - 1
9-139412623-C-G c.1221G>C p.P407= Synonymous 7/34 - 1
9-139412624-G-A c.1220C>T p.P407L Missense 7/34 - 3
9-139412624-G-C c.1220C>G p.P407R Missense 7/34 - 3
9-139412624-G-T c.1220C>A p.P407Q Missense 7/34 - 1
9-139412625-G-A c.1219C>T p.P407S Missense 7/34 - 2
9-139412627-C-A c.1217G>T p.G406V Missense 7/34 - 1
9-139412627-C-T c.1217G>A p.G406D Missense 7/34 - 1
9-139412628-C-T c.1216G>A p.G406S Missense 7/34 - 1
9-139412630-G-A c.1214C>T p.T405M Missense 7/34 - 2
9-139412632-G-A c.1212C>T p.Y404= Synonymous 7/34 - 1
9-139412632-G-T c.1212C>A p.Y404* Nonsense 7/34 - 1
9-139412632-G-C c.1212C>G p.Y404* Nonsense 7/34 - 1
9-139412633-T-A c.1211A>T p.Y404F Missense 7/34 - 1
9-139412638-CGA-GAT c.1204_1206delinsATC p.S402I Missense 7/34 - 1
9-139412639-G-A c.1205C>T p.S402L Missense 7/34 - 5
9-139412639-G-T c.1205C>A p.S402* Nonsense 7/34 - 2
9-139412642-G-A c.1202C>T p.P401L Missense 7/34 - 1
9-139412643-G-A c.1201C>T p.P401S Missense 7/34 - 1
9-139412643-G-C c.1201C>G p.P401A Missense 7/34 - 1
9-139412644-G-A c.1200C>T p.C400= Synonymous 7/34 - 1
9-139412645-C-T c.1199G>A p.C400Y Missense 7/34 - 2
9-139412645-C-A c.1199G>T p.C400F Missense 7/34 - 1
9-139412648-G-A c.1196C>T p.T399I Missense 7/34 - 1
9-139412648-G-C c.1196C>G p.T399S Missense 7/34 - 1
9-139412649-T-A c.1195A>T p.T399S Missense 7/34 - 1
9-139412649-T-G c.1195A>C p.T399P Missense 7/34 - 1
9-139412655-T-C c.1189A>G p.I397V Missense 7/34 - 1
9-139412657-G-A c.1187C>T p.A396V Missense 7/34 - 1
9-139412658-C-T c.1186G>A p.A396T Missense 7/34 - 1
9-139412660-T-G c.1184A>C p.K395T Missense 7/34 - 1
9-139412663-C-T c.1181G>A p.G394D Missense 7/34 - 1
9-139412663-C-A c.1181G>T p.G394V Missense 7/34 - 1
9-139412663-CC-TT c.1180_1181delinsAA p.G394N Missense 7/34 - 1
9-139412664-C-T c.1180G>A p.G394S Missense 7/34 - 1
9-139412667-T-A c.1177A>T p.N393Y Missense 7/34 - 1
9-139412671-A-C c.1173T>G p.P391= Synonymous 7/34 - 1
9-139412671-A-T c.1173T>A p.P391= Synonymous 7/34 - 1
9-139412671-A-G c.1173T>C p.P391= Synonymous 7/34 - 1
9-139412673-G-A c.1171C>T p.P391S Missense 7/34 - 4
9-139412682-C-T c.1162G>A p.D388N Missense 7/34 - 1
9-139412683-G-C c.1161C>G p.C387W Missense 7/34 - 1
9-139412690-G-A c.1154C>T p.S385F Missense 7/34 - 1
9-139412690-G-T c.1154C>A p.S385Y Missense 7/34 - 1
9-139412690-G-C c.1154C>G p.S385C Missense 7/34 - 1
9-139412693-C-T c.1151G>A p.G384D Missense 7/34 - 1
9-139412694-C-T c.1150G>A p.G384S Missense 7/34 - 1
9-139412704-GGG-TTA c.1138_1140delinsTAA p.P380* Nonsense 7/34 - 1
9-139412703-AGGG-A c.1138_1140del p.P380del InFrameDeletion 7/34 - 1
9-139412705-G-A c.1139C>T p.P380L Missense 7/34 - 1
9-139412707-G-A c.1137C>T p.N379= Synonymous 7/34 - 1
9-139412714-GA-G c.1130del p.I377Tfs*254 Frameshift 7/34 - 1
9-139412717-C-T c.1127G>A p.C376Y Missense 7/34 - 3
9-139412717-C-A c.1127G>T p.C376F Missense 7/34 - 1
9-139412718-A-C c.1126T>G p.C376G Missense 7/34 - 1
9-139412720-G-C c.1124C>G p.A375G Missense 7/34 - 2
9-139412722-G-A c.1122C>T p.D374= Synonymous 7/34 - 2
9-139412724-C-A c.1120G>T p.D374Y Missense 7/34 - 1
9-139412730-G-A c.1114C>T p.L372F Missense 7/34 - 1
9-139412735-C-T c.1109G>A p.C370Y Missense 7/34 - 1
9-139412736-A-G c.1108T>C p.C370R Missense 7/34 - 1
9-139412737-C-A c.1107G>T p.L369= Synonymous 7/34 - 1
9-139412737-C-T c.1107G>A p.L369= Synonymous 7/34 - 1
9-139412737-C-G c.1107G>C p.L369= Synonymous 7/34 - 1
9-139412739-G-A c.1105C>T p.L369= Synonymous 7/34 - 1
9-139412738-A-T c.1106T>A p.L369Q Missense 7/34 - 1
9-139412740-C-A c.1104G>T p.L368= Synonymous 7/34 - 1
9-139412740-C-T c.1104G>A p.L368= Synonymous 7/34 - 1
9-139412740-C-G c.1104G>C p.L368= Synonymous 7/34 - 1
9-139412742-G-A c.1102C>T p.L368= Synonymous 7/34 - 1
9-139412741-A-T c.1103T>A p.L368Q Missense 7/34 - 1
9-139412742-G-C c.1102C>G p.L368V Missense 7/34 - 1
9-139412744-C-T c.1100G>A p.G367D Missense 7/34 - 2
9-139412744-C-A c.1100G>T p.G367V Missense 7/34 - 1
9-139412884-C-T c.1100-140G>A - IntronicSNV - 6/33 3
9-139413042-C-T c.1099+1G>A - IntronicSNV - 6/33 1
9-139413045-G-A c.1097C>T p.T366I Missense 6/34 - 1
9-139413047-GC-TT c.1094_1095delinsAA p.R365Q Missense 6/34 - 1
9-139413048-C-T c.1094G>A p.R365H Missense 6/34 - 2
9-139413049-G-A c.1093C>T p.R365C Missense 6/34 - 11
9-139413051-C-T c.1091G>A p.G364D Missense 6/34 - 1
9-139413059-A-G c.1083T>C p.C361= Synonymous 6/34 - 1
9-139413063-T-A c.1079A>T p.E360V Missense 6/34 - 1
9-139413064-C-A c.1078G>T p.E360* Nonsense 6/34 - 2
9-139413064-C-T c.1078G>A p.E360K Missense 6/34 - 2
9-139413065-G-T c.1077C>A p.C359* Nonsense 6/34 - 2
9-139413065-G-C c.1077C>G p.C359W Missense 6/34 - 1
9-139413066-C-T c.1076G>A p.C359Y Missense 6/34 - 2
9-139413067-A-T c.1075T>A p.C359S Missense 6/34 - 1
9-139413066-C-G c.1076G>C p.C359S Missense 6/34 - 1
9-139413067-A-C c.1075T>G p.C359G Missense 6/34 - 1
9-139413069-TAGA-T c.1070_1072del p.F357del InFrameDeletion 6/34 - 7
9-139413072-A-G c.1070T>C p.F357S Missense 6/34 - 3
9-139413075-G-A c.1067C>T p.S356F Missense 6/34 - 2
9-139413079-C-T c.1063G>A p.A355T Missense 6/34 - 1
9-139413079-C-A c.1063G>T p.A355S Missense 6/34 - 1
9-139413084-C-T c.1058G>A p.R353H Missense 6/34 - 5
9-139413085-G-A c.1057C>T p.R353C Missense 6/34 - 10
9-139413087-T-C c.1055A>G p.D352G Missense 6/34 - 3
9-139413087-T-A c.1055A>T p.D352V Missense 6/34 - 2
9-139413088-C-T c.1054G>A p.D352N Missense 6/34 - 1
9-139413097-T-G c.1045A>C p.T349P Missense 6/34 - 3
9-139413099-G-A c.1043C>T p.A348V Missense 6/34 - 1
9-139413100-C-T c.1042G>A p.A348T Missense 6/34 - 2
9-139413100-C-G c.1042G>C p.A348P Missense 6/34 - 1
9-139413101-GCC-CCA c.1039_1041delinsTGG p.G347W Missense 6/34 - 1
9-139413102-C-T c.1040G>A p.G347D Missense 6/34 - 2
9-139413103-C-T c.1039G>A p.G347S Missense 6/34 - 1
9-139413103-C-A c.1039G>T p.G347C Missense 6/34 - 1
9-139413103-C-G c.1039G>C p.G347R Missense 6/34 - 1
9-139413109-A-T c.1033T>A p.F345I Missense 6/34 - 2
9-139413111-C-T c.1031G>A p.C344Y Missense 6/34 - 1
9-139413119-G-T c.1023C>A p.S341R Missense 6/34 - 1
9-139413120-C-T c.1022G>A p.S341N Missense 6/34 - 1
9-139413123-GCA-G c.1017_1018del p.A340Qfs*12 Frameshift 6/34 - 2
9-139413126-C-T c.1016G>A p.C339Y Missense 6/34 - 1
9-139413130-C-T c.1012G>A p.D338N Missense 6/34 - 1
9-139413133-C-A c.1009G>T p.D337Y Missense 6/34 - 1
9-139413135-A-C c.1007T>G p.I336S Missense 6/34 - 1
9-139413142-C-T c.1000G>A p.E334K Missense 6/34 - 2
9-139413144-C-T c.998G>A p.S333N Missense 6/34 - 1
9-139413148-A-T c.994T>A p.C332S Missense 6/34 - 1
9-139413147-C-G c.995G>C p.C332S Missense 6/34 - 1
9-139413151-C-A c.991G>T p.D331Y Missense 6/34 - 1
9-139413157-C-T c.985G>A p.G329S Missense 6/34 - 2
9-139413157-C-A c.985G>T p.G329C Missense 6/34 - 1
9-139413161-C-G c.981G>C p.W327C Missense 6/34 - 1
9-139413163-A-T c.979T>A p.W327R Missense 6/34 - 1
9-139413163-A-G c.979T>C p.W327R Missense 6/34 - 1
9-139413165-C-T c.977G>A p.G326D Missense 6/34 - 1
9-139413166-C-T c.976G>A p.G326S Missense 6/34 - 1
9-139413169-T-A c.973A>T p.N325Y Missense 6/34 - 2
9-139413170-GAC-G c.970_971del p.V324Qfs*6 Frameshift 6/34 - 1
9-139413179-G-A c.963C>T p.C321= Synonymous 6/34 - 1
9-139413179-G-C c.963C>G p.C321W Missense 6/34 - 1
9-139413181-A-C c.961T>G p.C321G Missense 6/34 - 1
9-139413186-T-G c.956A>C p.Y319S Missense 6/34 - 1
9-139413190-C-A c.952G>T p.G318C Missense 6/34 - 1
9-139413198-G-A c.944C>T p.T315I Missense 6/34 - 11
9-139413198-G-T c.944C>A p.T315N Missense 6/34 - 1
9-139413204-T-G c.938A>C p.H313P Missense 6/34 - 1
9-139413204-TGGCAGGTCCCGCCGTTCTGGCA-T c.916_937del p.C306Tfs*318 Frameshift 6/34 - 1
9-139413210-GT-AC c.931_932inv p.T311V Missense 6/34 - 2
9-139413211-T-G c.931A>C p.T311P Missense 6/34 - 4
9-139413211-T-C c.931A>G p.T311A Missense 6/34 - 2
9-139413203-GTGGCAGGTCCCGCCGTTC-G c.921_938del p.Q307_C312del InFrameDeletion 6/34 - 1
9-139413212-CC-GT c.929_930delinsAC p.G310D Missense 6/34 - 1
9-139413214-C-T c.928G>A p.G310R Missense 6/34 - 6
9-139413214-C-G c.928G>C p.G310R Missense 6/34 - 3
9-139413216-C-T c.926G>A p.G309D Missense 6/34 - 1
9-139413215-G-GC c.926dup p.G310Rfs*21 Frameshift 6/34 - 1
9-139413223-G-C c.919C>G p.Q307E Missense 6/34 - 1
9-139413230-AT-A c.911del p.N304Mfs*327 Frameshift 6/34 - 1
9-139413245-G-C c.897C>G p.C299W Missense 6/34 - 2
9-139413248-C-G c.894G>C p.E298D Missense 6/34 - 3
9-139413248-C-A c.894G>T p.E298D Missense 6/34 - 3
9-139413250-C-A c.892G>T p.E298* Nonsense 6/34 - 1
9-139413251-G-C c.891C>G p.D297E Missense 6/34 - 1
9-139413252-T-C c.890A>G p.D297G Missense 6/34 - 1
9-139413259-C-T c.883G>A p.D295N Missense 6/34 - 1
9-139413264-G-C c.878C>G p.T293S Missense 6/34 - 1
9-139413265-T-A c.877A>T p.T293S Missense 6/34 - 1
9-139413267-C-T c.875G>A p.C292Y Missense 6/34 - 1
9-139413269-G-C c.873C>G p.Y291* Nonsense 6/34 - 1
9-139413270-T-C c.872A>G p.Y291C Missense 6/34 - 1
9-139413273-T-TG c.868dup p.Q290Pfs*41 SpliceAcceptorInsertion 6/34 - 1
9-139413274-G-A c.868C>T p.Q290* Nonsense 6/34 - 2
9-139413276-C-G c.866G>C p.G289A Missense 6/34 - 1
9-139413533-C-T c.866-257G>A - IntronicSNV - 5/33 1
9-139413892-C-T c.865+3G>A - IntronicSNV - 5/33 1
9-139413893-G-A c.865+2C>T - IntronicSNV - 5/33 1
9-139413897-G-A c.863C>T p.T288I Missense 5/34 - 1
9-139413900-C-T c.860G>A p.W287* Nonsense 5/34 - 2
9-139413899-C-T c.861G>A p.W287* Nonsense 5/34 - 2
9-139413900-C-CCAGA c.859_860insTCTG p.W287Ffs*45 Frameshift 5/34 - 1
9-139413904-C-T c.856G>A p.E286K Missense 5/34 - 1
9-139413904-C-A c.856G>T p.E286* Nonsense 5/34 - 1
9-139413908-C-G c.852G>C p.P284= Synonymous 5/34 - 2
9-139413909-G-T c.851C>A p.P284Q Missense 5/34 - 1
9-139413909-G-A c.851C>T p.P284L Missense 5/34 - 2
9-139413912-C-A c.848G>T p.C283F Missense 5/34 - 2
9-139413914-GCG-CCA c.844_846delinsTGG p.R282W Missense 5/34 - 1
9-139413916-G-A c.844C>T p.R282C Missense 5/34 - 1
9-139413918-C-A c.842G>T p.C281F Missense 5/34 - 1
9-139413920-G-A c.840C>T p.N280= Synonymous 5/34 - 1
9-139413921-T-C c.839A>G p.N280S Missense 5/34 - 2
9-139413924-T-A c.836A>T p.Y279F Missense 5/34 - 1
9-139413929-G-C c.831C>G p.N277K Missense 5/34 - 1
9-139413929-G-T c.831C>A p.N277K Missense 5/34 - 1
9-139413934-C-T c.826G>A p.V276M Missense 5/34 - 2
9-139413936-C-T c.824G>A p.G275D Missense 5/34 - 1
9-139413937-C-T c.823G>A p.G275S Missense 5/34 - 1
9-139413948-G-A c.812C>T p.A271V Missense 5/34 - 1
9-139413955-C-T c.805G>A p.G269R Missense 5/34 - 1
9-139413955-C-G c.805G>C p.G269R Missense 5/34 - 1
9-139413955-C-A c.805G>T p.G269W Missense 5/34 - 1
9-139413956-G-A c.804C>T p.N268= Synonymous 5/34 - 1
9-139413966-T-C c.794A>G p.N265S Missense 5/34 - 1
9-139413966-T-A c.794A>T p.N265I Missense 5/34 - 1
9-139413974-TG-T c.785del p.P262Qfs*15 Frameshift 5/34 - 1
9-139413976-G-A c.784C>T p.P262S Missense 5/34 - 1
9-139413983-G-T c.777C>A p.D259E Missense 5/34 - 1
9-139413983-G-A c.777C>T p.D259= Synonymous 5/34 - 1
9-139413985-C-T c.775G>A p.D259N Missense 5/34 - 1
9-139413989-TA-T c.771del p.N257Kfs*20 Frameshift 5/34 - 1
9-139413994-C-G c.766G>C p.E256Q Missense 5/34 - 1
9-139413994-C-A c.766G>T p.E256* Nonsense 5/34 - 1
9-139413996-TC-AG c.763_764delinsCT p.E255L Missense 5/34 - 1
9-139413997-C-T c.763G>A p.E255K Missense 5/34 - 2
9-139413997-C-A c.763G>T p.E255* Nonsense 5/34 - 1
9-139414001-G-C c.759C>G p.N253K Missense 5/34 - 1
9-139414001-G-T c.759C>A p.N253K Missense 5/34 - 1
9-139414004-C-A c.756G>T p.Q252H Missense 5/34 - 2
9-139414004-C-G c.756G>C p.Q252H Missense 5/34 - 2
9-139414008-C-T c.752G>A p.G251D Missense 5/34 - 1
9-139414035-G-A c.743-18C>T - IntronicSNV - 4/33 1
9-139414839-G-A c.743-822C>T - IntronicSNV - 4/33 2
9-139414839-G-C c.743-822C>G - IntronicSNV - 4/33 2
9-139417302-C-A c.742G>T p.G248C Missense 4/34 - 1
9-139417305-G-A c.739C>T p.P247S Missense 4/34 - 1
9-139417303-TG-T c.740del p.P247Qfs*30 Frameshift 4/34 - 1
9-139417320-C-CA c.723_724insT p.E242* Nonsense 4/34 - 1
9-139417320-C-T c.724G>A p.E242K Missense 4/34 - 1
9-139417326-T-A c.718A>T p.T240S Missense 4/34 - 1
9-139417328-A-G c.716T>C p.V239A Missense 4/34 - 1
9-139417329-C-T c.715G>A p.V239I Missense 4/34 - 1
9-139417332-C-T c.712G>A p.D238N Missense 4/34 - 2
9-139417334-C-T c.710G>A p.G237D Missense 4/34 - 1
9-139417340-G-A c.704C>T p.P235L Missense 4/34 - 1
9-139417343-C-T c.701G>A p.R234H Missense 4/34 - 5
9-139417344-G-A c.700C>T p.R234C Missense 4/34 - 1
9-139417346-C-T c.698G>A p.C233Y Missense 4/34 - 1
9-139417349-GT-AC c.694_695inv p.T232V Missense 4/34 - 1
9-139417351-G-A c.693C>T p.G231= Synonymous 4/34 - 1
9-139417351-G-C c.693C>G p.G231= Synonymous 4/34 - 1
9-139417351-G-T c.693C>A p.G231= Synonymous 4/34 - 1
9-139417352-C-T c.692G>A p.G231D Missense 4/34 - 1
9-139417354-CCC-ACA c.688_690delinsTGT p.G230C Missense 4/34 - 1
9-139417354-C-A c.690G>T p.G230= Synonymous 4/34 - 1
9-139417354-C-T c.690G>A p.G230= Synonymous 4/34 - 1
9-139417354-C-G c.690G>C p.G230= Synonymous 4/34 - 1
9-139417355-C-T c.689G>A p.G230E Missense 4/34 - 2
9-139417356-C-T c.688G>A p.G230R Missense 4/34 - 1
9-139417357-G-A c.687C>T p.N229= Synonymous 4/34 - 2
9-139417357-G-C c.687C>G p.N229K Missense 4/34 - 1
9-139417357-G-T c.687C>A p.N229K Missense 4/34 - 1
9-139417359-T-C c.685A>G p.N229D Missense 4/34 - 1
9-139417360-C-T c.684G>A p.Q228= Synonymous 4/34 - 1
9-139417361-T-G c.683A>C p.Q228P Missense 4/34 - 1
9-139417361-T-A c.683A>T p.Q228L Missense 4/34 - 1
9-139417362-G-A c.682C>T p.Q228* Nonsense 4/34 - 1
9-139417364-C-T c.680G>A p.C227Y Missense 4/34 - 2
9-139417368-G-A c.676C>T p.P226S Missense 4/34 - 1
9-139417371-A-G c.673T>C p.S225P Missense 4/34 - 1
9-139417372-G-A c.672C>T p.P224= Synonymous 4/34 - 1
9-139417372-G-C c.672C>G p.P224= Synonymous 4/34 - 1
9-139417372-G-T c.672C>A p.P224= Synonymous 4/34 - 1
9-139417379-C-T c.665G>A p.C222Y Missense 4/34 - 2
9-139417386-C-T c.658G>A p.V220M Missense 4/34 - 1
9-139417387-G-A c.657C>T p.Y219= Synonymous 4/34 - 1
9-139417395-G-A c.649C>T p.R217W Missense 4/34 - 1
9-139417399-G-T c.645C>A p.C215* Nonsense 4/34 - 1
9-139417399-G-C c.645C>G p.C215W Missense 4/34 - 1
9-139417403-T-C c.641A>G p.N214S Missense 4/34 - 1
9-139417407-G-A c.637C>T p.P213S Missense 4/34 - 2
9-139417409-C-T c.635G>A p.G212D Missense 4/34 - 1
9-139417416-G-A c.628C>T p.H210Y Missense 4/34 - 1
9-139417422-C-T c.622G>A p.A208T Missense 4/34 - 1
9-139417424-C-T c.620G>A p.R207H Missense 4/34 - 1
9-139417425-G-A c.619C>T p.R207C Missense 4/34 - 1
9-139417435-GCG-TCA c.607_609delinsTGA p.R203* Nonsense 4/34 - 1
9-139417437-G-A c.607C>T p.R203C Missense 4/34 - 1
9-139417445-C-A c.599G>T p.G200V Missense 4/34 - 1
9-139417446-C-A c.598G>T p.G200C Missense 4/34 - 1
9-139417446-C-G c.598G>C p.G200R Missense 4/34 - 2
9-139417451-T-C c.593A>G p.E198G Missense 4/34 - 1
9-139417452-C-T c.592G>A p.E198K Missense 4/34 - 1
9-139417457-T-C c.587A>G p.H196R Missense 4/34 - 1
9-139417455-TGTG-T c.586_588del p.H196del InFrameDeletion 4/34 - 1
9-139417463-G-C c.581C>G p.T194S Missense 4/34 - 1
9-139417464-T-A c.580A>T p.T194S Missense 4/34 - 1
9-139417464-T-G c.580A>C p.T194P Missense 4/34 - 4
9-139417466-C-T c.578G>A p.G193D Missense 4/34 - 1
9-139417466-C-G c.578G>C p.G193A Missense 4/34 - 1
9-139417470-C-A c.574G>T p.G192* Nonsense 4/34 - 2
9-139417470-C-T c.574G>A p.G192R Missense 4/34 - 1
9-139417475-C-T c.569G>A p.R190H Missense 4/34 - 1
9-139417476-G-A c.568C>T p.R190C Missense 4/34 - 1
9-139417485-C-A c.559G>T p.G187W Missense 4/34 - 1
9-139417486-G-T c.558C>A p.P186= Synonymous 4/34 - 1
9-139417489-C-A c.555G>T p.K185N Missense 4/34 - 2
9-139417491-T-C c.553A>G p.K185E Missense 4/34 - 1
9-139417502-T-C c.542A>G p.E181G Missense 4/34 - 1
9-139417505-T-C c.539A>G p.N180S Missense 4/34 - 1
9-139417515-G-A c.529C>T p.Q177* Nonsense 4/34 - 2
9-139417515-GC-G c.528del p.Q177Rfs*100 Frameshift 4/34 - 1
9-139417517-C-T c.527G>A p.R176Q Missense 4/34 - 4
9-139417517-CG-TA c.526_527delinsTA p.R176* Nonsense 4/34 - 1
9-139417520-C-T c.524G>A p.C175Y Missense 4/34 - 1
9-139417523-G-T c.521C>A p.T174N Missense 4/34 - 1
9-139417529-C-A c.515G>T p.G172V Missense 4/34 - 1
9-139417533-G-A c.511C>T p.H171Y Missense 4/34 - 1
9-139417538-C-T c.506G>A p.S169N Missense 4/34 - 1
9-139417539-T-C c.505A>G p.S169G Missense 4/34 - 1
9-139417541-G-A c.503C>T p.P168L Missense 4/34 - 1
9-139417542-G-A c.502C>T p.P168S Missense 4/34 - 1
9-139417545-G-A c.499C>T p.P167S Missense 4/34 - 1
9-139417546-G-C c.498C>G p.C166W Missense 4/34 - 1
9-139417547-C-T c.497G>A p.C166Y Missense 4/34 - 1
9-139417569-C-T c.475G>A p.E159K Missense 4/34 - 1
9-139417580-C-T c.464G>A p.C155Y Missense 4/34 - 1
9-139417581-A-T c.463T>A p.C155S Missense 4/34 - 1
9-139417580-C-G c.464G>C p.C155S Missense 4/34 - 1
9-139417584-G-A c.460C>T p.Q154* Nonsense 4/34 - 2
9-139417587-C-A c.457G>T p.G153C Missense 4/34 - 1
9-139417589-C-T c.455G>A p.G152D Missense 4/34 - 1
9-139417589-C-G c.455G>C p.G152A Missense 4/34 - 1
9-139417590-C-T c.454G>A p.G152S Missense 4/34 - 1
9-139417592-T-C c.452A>G p.N151S Missense 4/34 - 1
9-139417593-T-C c.451A>G p.N151D Missense 4/34 - 1
9-139417595-G-A c.449C>T p.A150V Missense 4/34 - 1
9-139417596-C-T c.448G>A p.A150T Missense 4/34 - 1
9-139417596-C-G c.448G>C p.A150P Missense 4/34 - 1
9-139417597-CGCAGGGG-C c.441_447del p.N147Kfs*128 Frameshift 4/34 - 1
9-139417601-G-A c.443C>T p.P148L Missense 4/34 - 2
9-139417602-G-A c.442C>T p.P148S Missense 4/34 - 1
9-139417603-GT-G c.440del p.N147Tfs*130 Frameshift 4/34 - 1
9-139417606-GG-TT c.437_438delinsAA p.S146* Nonsense 4/34 - 1
9-139417611-C-T c.433G>A p.A145T Missense 4/34 - 1
9-139417616-G-A c.428C>T p.P143L Missense 4/34 - 1
9-139417617-G-A c.427C>T p.P143S Missense 4/34 - 1
9-139417620-C-T c.424G>A p.D142N Missense 4/34 - 1
9-139417620-C-G c.424G>C p.D142H Missense 4/34 - 1
9-139417622-G-C c.422C>G p.A141G Missense 4/34 - 1
9-139417634-G-A c.410C>T p.S137L Missense 4/34 - 1
9-139417689-G-A c.404-49C>T - IntronicSNV - 3/33 1
9-139417689-G-T c.404-49C>A - IntronicSNV - 3/33 1
9-139418174-C-T c.398G>A p.W133* Nonsense 3/34 - 2
9-139418173-C-T c.399G>A p.W133* Nonsense 3/34 - 2
9-139418177-C-T c.395G>A p.G132D Missense 3/34 - 2
9-139418185-G-GTGCTGC c.386_387insGCAGCA p.C129delinsWQH MultiAAMissense 3/34 - 1
9-139418188-GCG-TCA c.382_384delinsTGA p.R128* Nonsense 3/34 - 1
9-139418189-C-T c.383G>A p.R128H Missense 3/34 - 3
9-139418190-G-C c.382C>G p.R128G Missense 3/34 - 1
9-139418201-T-C c.371A>G p.E124G Missense 3/34 - 1
9-139418202-C-A c.370G>T p.E124* Nonsense 3/34 - 1
9-139418204-G-A c.368C>T p.T123M Missense 3/34 - 4
9-139418209-C-T c.363G>A p.T121= Synonymous 3/34 - 1
9-139418209-C-A c.363G>T p.T121= Synonymous 3/34 - 1
9-139418209-C-G c.363G>C p.T121= Synonymous 3/34 - 1
9-139418210-G-A c.362C>T p.T121M Missense 3/34 - 1
9-139418213-AG-CA c.358_359delinsTG p.L120C Missense 3/34 - 1
9-139418225-G-A c.347C>T p.T116I Missense 3/34 - 2
9-139418228-C-T c.344G>A p.G115D Missense 3/34 - 2
9-139418229-C-T c.343G>A p.G115S Missense 3/34 - 2
9-139418227-GC-G c.344del p.G115Afs*8 Frameshift 3/34 - 2
9-139418237-C-A c.335G>T p.R112L Missense 3/34 - 1
9-139418238-G-A c.334C>T p.R112C Missense 3/34 - 1
9-139418243-GG-TC c.328_329delinsGA p.P110D Missense 3/34 - 1
9-139418243-GG-CC c.328_329inv p.P110G Missense 3/34 - 1
9-139418244-G-C c.328C>G p.P110A Missense 3/34 - 4
9-139418246-T-G c.326A>C p.N109T Missense 3/34 - 1
9-139418249-G-C c.323C>G p.T108S Missense 3/34 - 1
9-139418250-T-A c.322A>T p.T108S Missense 3/34 - 1
9-139418257-G-T c.315C>A p.A105= Synonymous 3/34 - 1
9-139418257-G-C c.315C>G p.A105= Synonymous 3/34 - 1
9-139418257-G-A c.315C>T p.A105= Synonymous 3/34 - 1
9-139418258-G-T c.314C>A p.A105D Missense 3/34 - 1
9-139418259-C-T c.313G>A p.A105T Missense 3/34 - 1
9-139418260-A-G c.312T>C p.N104= Synonymous 3/34 - 10
9-139418261-T-C c.311A>G p.N104S Missense 3/34 - 3
9-139418261-T-A c.311A>T p.N104I Missense 3/34 - 1
9-139418262-T-C c.310A>G p.N104D Missense 3/34 - 1
9-139418264-T-C c.308A>G p.D103G Missense 3/34 - 1
9-139418265-C-A c.307G>T p.D103Y Missense 3/34 - 3
9-139418264-TC-T c.307del p.D103Tfs*20 Frameshift 3/34 - 1
9-139418266-C-A c.306G>T p.L102= Synonymous 3/34 - 1
9-139418266-C-T c.306G>A p.L102= Synonymous 3/34 - 1
9-139418266-C-G c.306G>C p.L102= Synonymous 3/34 - 1
9-139418268-G-A c.304C>T p.L102= Synonymous 3/34 - 1
9-139418267-A-G c.305T>C p.L102P Missense 3/34 - 1
9-139418271-G-A c.301C>T p.P101S Missense 3/34 - 1
9-139418279-C-A c.293G>T p.C98F Missense 3/34 - 1
9-139418279-C-T c.293G>A p.C98Y Missense 3/34 - 1
9-139418281-G-A c.291C>T p.L97= Synonymous 3/34 - 1
9-139418301-G-T c.271C>A p.L91M Missense 3/34 - 1
9-139418303-G-T c.269C>A p.A90D Missense 3/34 - 1
9-139418304-C-A c.268G>T p.A90S Missense 3/34 - 1
9-139418312-CA-GC c.259_260delinsGC p.C87A Missense 3/34 - 1
9-139418314-GG-CT c.257_258delinsAG p.A86E Missense 3/34 - 1
9-139418314-AGG-A c.257_258del p.A86Vfs*56 Frameshift 3/34 - 1
9-139418315-GC-CA c.256_257delinsTG p.A86C Missense 3/34 - 1
9-139418316-C-T c.256G>A p.A86T Missense 3/34 - 1
9-139418316-CAT-C c.254_255del p.Y85Cfs*57 Frameshift 3/34 - 1
9-139418322-C-A c.250G>T p.D84Y Missense 3/34 - 1
9-139418323-TGC-ACA c.247_249delinsTGT p.A83C Missense 3/34 - 1
9-139418325-C-T c.247G>A p.A83T Missense 3/34 - 1
9-139418330-C-T c.242G>A p.G81D Missense 3/34 - 2
9-139418331-C-A c.241G>T p.G81C Missense 3/34 - 1
9-139418335-GC-TT c.236_237delinsAA p.R79Q Missense 3/34 - 1
9-139418337-G-T c.235C>A p.R79S Missense 3/34 - 1
9-139418339-TC-CA c.232_233delinsTG p.D78C Missense 3/34 - 1
9-139418349-G-T c.223C>A p.H75N Missense 3/34 - 1
9-139418355-T-G c.217A>C p.T73P Missense 3/34 - 1
9-139418357-C-G c.215G>C p.G72A Missense 3/34 - 1
9-139418358-C-T c.214G>A p.G72R Missense 3/34 - 3
9-139418358-C-G c.214G>C p.G72R Missense 3/34 - 1
9-139418359-G-T c.213C>A p.A71= Synonymous 3/34 - 1
9-139418359-G-C c.213C>G p.A71= Synonymous 3/34 - 1
9-139418359-G-A c.213C>T p.A71= Synonymous 3/34 - 1
9-139418360-GC-CA c.211_212delinsTG p.A71C Missense 3/34 - 1
9-139418363-T-A c.209A>T p.N70I Missense 3/34 - 1
9-139418367-T-C c.205A>G p.K69E Missense 3/34 - 1
9-139418367-T-G c.205A>C p.K69Q Missense 3/34 - 1
9-139418365-CT-C c.206del p.K69Rfs*31 Frameshift 3/34 - 1
9-139418369-C-CT c.202_203insA p.C68* Nonsense 3/34 - 1
9-139418369-CA-TC c.202_203delinsGA p.C68D Missense 3/34 - 1
9-139418369-CA-GC c.202_203delinsGC p.C68A Missense 3/34 - 1
9-139418372-G-A c.200C>T p.P67L Missense 3/34 - 1
9-139418373-G-T c.199C>A p.P67T Missense 3/34 - 1
9-139418373-G-A c.199C>T p.P67S Missense 3/34 - 1
9-139418375-G-T c.197C>A p.T66N Missense 3/34 - 1
9-139418375-G-C c.197C>G p.T66S Missense 3/34 - 1
9-139418376-T-A c.196A>T p.T66S Missense 3/34 - 1
9-139418378-C-G c.194G>C p.S65T Missense 3/34 - 1
9-139418380-G-A c.192C>T p.L64= Synonymous 3/34 - 1
9-139418382-G-A c.190C>T p.L64F Missense 3/34 - 1
9-139418383-G-GCC c.188_189insGG p.C63Wfs*38 Frameshift 3/34 - 1
9-139418387-G-A c.185C>T p.P62L Missense 3/34 - 3
9-139418393-G-A c.179C>T p.P60L Missense 3/34 - 1
9-139418394-G-C c.178C>G p.P60A Missense 3/34 - 4
9-139418397-C-G c.175G>C p.D59H Missense 3/34 - 1
9-139418400-G-A c.172C>T p.Q58* Nonsense 3/34 - 1
9-139418402-CA-AG c.169_170delinsCT p.C57L Missense 3/34 - 2
9-139418406-G-A c.166C>T p.R56* Nonsense 3/34 - 3
9-139418408-G-A c.164C>T p.P55L Missense 3/34 - 1
9-139418412-C-T c.160G>A p.G54S Missense 3/34 - 2
9-139418417-AA-TC c.154_155delinsGA p.F52D Missense 3/34 - 1
9-139418419-G-T c.153C>A p.A51= Synonymous 3/34 - 1
9-139418419-G-C c.153C>G p.A51= Synonymous 3/34 - 1
9-139418419-G-A c.153C>T p.A51= Synonymous 3/34 - 1
9-139418419-GG-CT c.152_153delinsAG p.A51E Missense 3/34 - 1
9-139418419-GGC-TTA c.151_153delinsTAA p.A51* Nonsense 3/34 - 1
9-139418421-C-T c.151G>A p.A51T Missense 3/34 - 1
9-139418425-G-A c.147C>T p.G49= Synonymous 3/34 - 1
9-139418425-G-C c.147C>G p.G49= Synonymous 3/34 - 1
9-139418425-G-T c.147C>A p.G49= Synonymous 3/34 - 1
9-139418427-C-T c.145G>A p.G49S Missense 3/34 - 1
9-139420776-C-T c.141-2345G>A - IntronicSNV - 2/33 1
9-139425634-A-G c.141-7203T>C - IntronicSNV - 2/33 3
9-139425634-A-T c.141-7203T>A - IntronicSNV - 2/33 3
9-139427066-C-T c.141-8635G>A - IntronicSNV - 2/33 3
9-139428909-C-T c.140+9567G>A - IntronicSNV - 2/33 1
9-139431874-G-A c.140+6602C>T - IntronicSNV - 2/33 1
9-139436961-C-T c.140+1515G>A - IntronicSNV - 2/33 1
9-139438429-G-C c.140+47C>G - IntronicSNV - 2/33 1
9-139438478-G-C c.138C>G p.C46W Missense 2/34 - 1
9-139438478-G-A c.138C>T p.C46= Synonymous 2/34 - 1
9-139438478-GCAGGCCT-G c.131_137del p.E44Afs*54 Frameshift 2/34 - 1
9-139438482-G-A c.134C>T p.A45V Missense 2/34 - 1
9-139438482-GCCT-G c.131_133del p.E44del InFrameDeletion 2/34 - 1
9-139438486-C-A c.130G>T p.E44* Nonsense 2/34 - 1
9-139438494-T-A c.122A>T p.N41I Missense 2/34 - 1
9-139438497-G-T c.119C>A p.A40D Missense 2/34 - 1
9-139438498-C-T c.118G>A p.A40T Missense 2/34 - 1
9-139438499-C-T c.117G>A p.A39= Synonymous 2/34 - 1
9-139438499-C-G c.117G>C p.A39= Synonymous 2/34 - 1
9-139438499-C-A c.117G>T p.A39= Synonymous 2/34 - 1
9-139438509-T-A c.107A>T p.K36M Missense 2/34 - 4
9-139438515-CC-GT c.100_101delinsAC p.G34T Missense 2/34 - 1
9-139438516-C-G c.100G>C p.G34R Missense 2/34 - 1
9-139438524-C-T c.92G>A p.C31Y Missense 2/34 - 2
9-139438531-C-T c.85G>A p.E29K Missense 2/34 - 2
9-139438539-T-C c.77A>G p.Q26R Missense 2/34 - 1
9-139438540-G-A c.76C>T p.Q26* Nonsense 2/34 - 1
9-139438542-GA-TC c.73_74inv p.S25D Missense 2/34 - 1
9-139438543-A-C c.73T>G p.S25A Missense 2/34 - 1
9-139438547-TCG-ACA c.67_69delinsTGT p.R23C Missense 2/34 - 1
9-139438548-CG-GC c.67_68delinsGC p.R23A Missense 2/34 - 1
9-139438550-C-A c.66G>T p.P22= Synonymous 2/34 - 1
9-139438550-C-T c.66G>A p.P22= Synonymous 2/34 - 1
9-139438550-C-G c.66G>C p.P22= Synonymous 2/34 - 1
9-139438553-G-A c.63C>T p.G21= Synonymous 2/34 - 1
9-139438553-G-C c.63C>G p.G21= Synonymous 2/34 - 1
9-139438553-G-T c.63C>A p.G21= Synonymous 2/34 - 1
9-139438562-G-A c.62-8C>T - IntronicSNV - 1/33 1
9-139440170-G-A c.61+8C>T - IntronicSNV - 1/33 1
9-139440179-TCG-CCA c.58_60delinsTGG p.R20W Missense 1/34 - 1
9-139440180-C-A c.59G>T p.R20L Missense 1/34 - 1
9-139440180-C-T c.59G>A p.R20Q Missense 1/34 - 1
9-139440180-CG-TT c.58_59delinsAA p.R20K Missense 1/34 - 1
9-139440182-GT-G c.57del p.R20Efs*13 Frameshift 1/34 - 1
9-139440184-C-T c.55G>A p.A19T Missense 1/34 - 1
9-139440184-C-G c.55G>C p.A19P Missense 1/34 - 1
9-139440185-G-T c.54C>A p.A18= Synonymous 1/34 - 1
9-139440185-G-C c.54C>G p.A18= Synonymous 1/34 - 1
9-139440185-G-A c.54C>T p.A18= Synonymous 1/34 - 1
9-139440186-GC-AA c.52_53delinsTT p.A18F Missense 1/34 - 2
9-139440186-G-C c.53C>G p.A18G Missense 1/34 - 2
9-139440186-G-T c.53C>A p.A18D Missense 1/34 - 1
9-139440186-GC-CG c.52_53delinsCG p.A18R Missense 1/34 - 1
9-139440189-A-C c.50T>G p.L17R Missense 1/34 - 1
9-139440191-CGC-AAA c.46_48delinsTTT p.A16F Missense 1/34 - 1
9-139440192-GC-AT c.46_47delinsAT p.A16M Missense 1/34 - 1
9-139440198-AG-TC c.40_41delinsGA p.L14E Missense 1/34 - 1
9-139440201-AG-GC c.37_38delinsGC p.L13A Missense 1/34 - 2
9-139440210-C-T c.29G>A p.C10Y Missense 1/34 - 1
9-139440212-G-C c.27C>G p.L9= Synonymous 1/34 - 3
9-139440212-G-A c.27C>T p.L9= Synonymous 1/34 - 2
9-139440212-G-T c.27C>A p.L9= Synonymous 1/34 - 2
9-139440216-CAGGGGCGCCAGGAG-C c.10_23del p.L4Afs*21 Frameshift 1/34 - 1
9-139440218-G-C c.21C>G p.P7= Synonymous 1/34 - 1
9-139440222-G-A c.17C>T p.A6V Missense 1/34 - 1
9-139440223-C-T c.16G>A p.A6T Missense 1/34 - 1
9-139440224-C-T c.15G>A p.L5= Synonymous 1/34 - 1
9-139440230-C-A c.9G>T p.P3= Synonymous 1/34 - 1
9-139440230-C-T c.9G>A p.P3= Synonymous 1/34 - 1
9-139440230-C-G c.9G>C p.P3= Synonymous 1/34 - 1
9-139440232-G-A c.7C>T p.P3S Missense 1/34 - 1
9-139440233-C-A c.6G>T p.P2= Synonymous 1/34 - 2
9-139440233-C-T c.6G>A p.P2= Synonymous 1/34 - 2
9-139440233-C-G c.6G>C p.P2= Synonymous 1/34 - 2
9-139440234-G-T c.5C>A p.P2Q Missense 1/34 - 1
9-139440390-A-G c.-152T>C - IntergenicSNV 1/34 - 1
9-139440390-A-T c.-152T>A - IntergenicSNV 1/34 - 1