DNMT3A DNA methyltransferase 3 alpha

Annotation transcript: NM_022552.5

1862 unique variant annotations were identified in 958 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
2-25451789-C-A c.*5359G>T - IntergenicSNV 23/23 - 1
2-25451789-C-G c.*5359G>C - IntergenicSNV 23/23 - 1
2-25451789-C-T c.*5359G>A - IntergenicSNV 23/23 - 1
2-25452906-G-A c.*4242C>T - IntergenicSNV 23/23 - 1
2-25453968-C-G c.*3180G>C - IntergenicSNV 23/23 - 10
2-25453968-C-T c.*3180G>A - IntergenicSNV 23/23 - 10
2-25457153-C-G c.2734G>C p.V912L Missense 23/23 - 1
2-25457155-C-A c.2732G>T p.C911F Missense 23/23 - 1
2-25457155-C-T c.2732G>A p.C911Y Missense 23/23 - 4
2-25457158-G-A c.2729C>T p.A910V Missense 23/23 - 7
2-25457158-G-T c.2729C>A p.A910E Missense 23/23 - 1
2-25457159-C-G c.2728G>C p.A910P Missense 23/23 - 2
2-25457159-C-T c.2728G>A p.A910T Missense 23/23 - 1
2-25457160-A-T c.2727T>A p.F909L Missense 23/23 - 1
2-25457161-AAAATAC-A c.2721_2726del p.E907_F909delinsD MultiAAMissense 23/23 - 1
2-25457161-AA-CG c.2725_2726delinsCG p.F909R Missense 23/23 - 1
2-25457161-A-C c.2726T>G p.F909C Missense 23/23 - 2
2-25457161-A-G c.2726T>C p.F909S Missense 23/23 - 4
2-25457162-A-G c.2725T>C p.F909L Missense 23/23 - 1
2-25457159-C-CA c.2727dup p.A910Cfs*11 Frameshift 23/23 - 1
2-25457163-A-C c.2724T>G p.Y908* Nonsense 23/23 - 1
2-25457163-A-T c.2724T>A p.Y908* Nonsense 23/23 - 1
2-25457164-T-C c.2723A>G p.Y908C Missense 23/23 - 3
2-25457164-T-TA c.2722dup p.Y908Lfs*13 Frameshift 23/23 - 1
2-25457165-A-C c.2722T>G p.Y908D Missense 23/23 - 1
2-25457166-C-A c.2721G>T p.E907D Missense 23/23 - 1
2-25457166-C-G c.2721G>C p.E907D Missense 23/23 - 1
2-25457168-C-A c.2719G>T p.E907* Nonsense 23/23 - 2
2-25457168-C-T c.2719G>A p.E907K Missense 23/23 - 2
2-25457167-T-TC c.2719dup p.E907Gfs*14 Frameshift 23/23 - 1
2-25457169-C-A c.2718G>T p.K906N Missense 23/23 - 1
2-25457169-C-G c.2718G>C p.K906N Missense 23/23 - 1
2-25457170-CTTCAGCGGAGCGAAGA-C c.2702_2717del p.L901Rfs*16 Frameshift 23/23 - 1
2-25457171-T-A c.2716A>T p.K906* Nonsense 23/23 - 1
2-25457173-A-G c.2714T>C p.L905P Missense 23/23 - 2
2-25457173-A-T c.2714T>A p.L905Q Missense 23/23 - 1
2-25457176-G-A c.2711C>T p.P904L Missense 23/23 - 28
2-25457176-G-C c.2711C>G p.P904R Missense 23/23 - 1
2-25457176-G-T c.2711C>A p.P904Q Missense 23/23 - 4
2-25457172-CAGCGG-C c.2710_2714del p.P904Efs*15 Frameshift 23/23 - 1
2-25457177-G-A c.2710C>T p.P904S Missense 23/23 - 1
2-25457177-G-C c.2710C>G p.P904A Missense 23/23 - 2
2-25457179-G-T c.2708C>A p.A903D Missense 23/23 - 1
2-25457180-C-G c.2707G>C p.A903P Missense 23/23 - 1
2-25457180-C-T c.2707G>A p.A903T Missense 23/23 - 2
2-25457181-CGA-C c.2705_2706del p.F902Cfs*18 Frameshift 23/23 - 1
2-25457181-CG-C c.2706del p.F902Lfs*4 Frameshift 23/23 - 3
2-25457181-G-A c.2706C>T p.F902= Synonymous 23/23 - 1
2-25457182-A-G c.2705T>C p.F902S Missense 23/23 - 3
2-25457185-A-C c.2702T>G p.L901R Missense 23/23 - 2
2-25457191-C-T c.2696G>A p.R899H Missense 23/23 - 3
2-25457192-G-A c.2695C>T p.R899C Missense 23/23 - 8
2-25457192-G-C c.2695C>G p.R899G Missense 23/23 - 3
2-25457191-CG-C c.2695del p.R899Afs*7 Frameshift 23/23 - 2
2-25457194-GA-G c.2693del p.I898Tfs*8 Frameshift 23/23 - 1
2-25457192-GGAT-G c.2692_2694del p.I898del InFrameDeletion 23/23 - 1
2-25457197-A-C c.2690T>G p.V897G Missense 23/23 - 1
2-25457197-A-T c.2690T>A p.V897D Missense 23/23 - 1
2-25457198-C-T c.2689G>A p.V897I Missense 23/23 - 1
2-25457200-G-A c.2687C>T p.P896L Missense 23/23 - 3
2-25457202-C-CA c.2684dup p.P896Afs*25 Frameshift 23/23 - 1
2-25457204-C-T c.2683G>A p.V895M Missense 23/23 - 5
2-25457205-G-C c.2682C>G p.S894R Missense 23/23 - 1
2-25457205-G-T c.2682C>A p.S894R Missense 23/23 - 1
2-25457207-T-G c.2680A>C p.S894R Missense 23/23 - 1
2-25457207-T-TC c.2679dup p.S894Efs*27 Frameshift 23/23 - 1
2-25457208-C-T c.2679G>A p.W893* Nonsense 23/23 - 2
2-25457209-C-G c.2678G>C p.W893S Missense 23/23 - 7
2-25457209-C-T c.2678G>A p.W893* Nonsense 23/23 - 1
2-25457210-A-G c.2677T>C p.W893R Missense 23/23 - 3
2-25457210-A-T c.2677T>A p.W893R Missense 23/23 - 3
2-25457212-G-T c.2675C>A p.S892* Nonsense 23/23 - 1
2-25457214-ACCGGCCCAGCAGTC-A c.2660_2673del p.R887Ifs*29 Frameshift 23/23 - 1
2-25457216-G-A c.2671C>T p.R891W Missense 23/23 - 1
2-25457218-C-A c.2669G>T p.G890V Missense 23/23 - 1
2-25457218-C-T c.2669G>A p.G890D Missense 23/23 - 3
2-25457219-C-A c.2668G>T p.G890C Missense 23/23 - 1
2-25457217-GC-G c.2669del p.G890Afs*16 Frameshift 23/23 - 1
2-25457221-A-G c.2666T>C p.L889P Missense 23/23 - 2
2-25457222-G-C c.2665C>G p.L889V Missense 23/23 - 1
2-25457224-A-G c.2663T>C p.L888P Missense 23/23 - 1
2-25457225-AG-A c.2662del p.L888Cfs*18 Frameshift 23/23 - 1
2-25457227-C-A c.2660G>T p.R887I Missense 23/23 - 1
2-25457227-C-G c.2660G>C p.R887T Missense 23/23 - 1
2-25457227-CT-TC c.2659_2660delinsGA p.R887E Missense 23/23 - 2
2-25457228-T-A c.2659A>T p.R887* Nonsense 23/23 - 1
2-25457228-T-G c.2659A>C p.R887= Synonymous 23/23 - 1
2-25457225-GTC-G c.2660_2661del p.R887Tfs*33 Frameshift 23/23 - 1
2-25457229-C-CG c.2657_2658insC p.Q886Hfs*35 Frameshift 23/23 - 1
2-25457229-C-T c.2658G>A p.Q886= Synonymous 23/23 - 1
2-25457230-T-C c.2657A>G p.Q886R Missense 23/23 - 1
2-25457231-G-A c.2656C>T p.Q886* Nonsense 23/23 - 5
2-25457231-G-C c.2656C>G p.Q886E Missense 23/23 - 3
2-25457232-C-A c.2655G>T p.R885S Missense 23/23 - 2
2-25457232-C-G c.2655G>C p.R885S Missense 23/23 - 2
2-25457232-C-T c.2655G>A p.R885= Synonymous 23/23 - 1
2-25457234-T-G c.2653A>C p.R885= Synonymous 23/23 - 1
2-25457233-C-T c.2654G>A p.R885K Missense 23/23 - 1
2-25457233-CT-GC c.2653_2654delinsGC p.R885A Missense 23/23 - 3
2-25457233-CT-TG c.2653_2654delinsCA p.R885Q Missense 23/23 - 1
2-25457236-G-A c.2651C>T p.A884V Missense 23/23 - 5
2-25457235-CGCCAAGCGGCTCATGTT-C c.2635_2651del p.N879Efs*36 Frameshift 23/23 - 1
2-25457237-C-T c.2650G>A p.A884T Missense 23/23 - 1
2-25457241-G-A c.2646C>T p.R882= Synonymous 23/23 - 1
2-25457241-G-C c.2646C>G p.R882= Synonymous 23/23 - 1
2-25457241-GCG-CTT c.2644_2646delinsAAG p.R882K Missense 23/23 - 1
2-25457241-GCG-TCA c.2644_2646delinsTGA p.R882* Nonsense 23/23 - 5
2-25457241-GC-TT c.2645_2646delinsAA p.R882Q Missense 23/23 - 1
2-25457241-G-T c.2646C>A p.R882= Synonymous 23/23 - 1
2-25457242-C-A c.2645G>T p.R882L Missense 23/23 - 10
2-25457242-C-G c.2645G>C p.R882P Missense 23/23 - 48
2-25457242-CG-AA c.2644_2645delinsTT p.R882F Missense 23/23 - 1
2-25457242-CG-GC c.2644_2645delinsGC p.R882A Missense 23/23 - 4
2-25457242-C-T c.2645G>A p.R882H Missense 23/23 - 392
2-25457243-G-A c.2644C>T p.R882C Missense 23/23 - 193
2-25457243-G-C c.2644C>G p.R882G Missense 23/23 - 3
2-25457243-G-T c.2644C>A p.R882S Missense 23/23 - 37
2-25457244-G-A c.2643C>T p.S881= Synonymous 23/23 - 1
2-25457247-TC-T c.2640del p.M880Ifs*26 Frameshift 23/23 - 1
2-25457249-T-C c.2638A>G p.M880V Missense 23/23 - 5
2-25457249-T-G c.2638A>C p.M880L Missense 23/23 - 1
2-25457250-G-C c.2637C>G p.N879K Missense 23/23 - 1
2-25457251-TT-GC c.2635_2636delinsGC p.N879A Missense 23/23 - 1
2-25457252-T-C c.2635A>G p.N879D Missense 23/23 - 8
2-25457252-T-TG c.2634dup p.N879Qfs*42 Frameshift 23/23 - 1
2-25457254-G-A c.2633C>T p.S878F Missense 23/23 - 1
2-25457255-A-G c.2632T>C p.S878P Missense 23/23 - 2
2-25457258-AC-A c.2629del p.V877Sfs*4 Frameshift 23/23 - 1
2-25457259-G-GT c.2627dup p.D876Efs*45 Frameshift 23/23 - 1
2-25457260-T-A c.2627A>T p.D876V Missense 23/23 - 1
2-25457260-T-C c.2627A>G p.D876G Missense 23/23 - 1
2-25457260-T-G c.2627A>C p.D876A Missense 23/23 - 1
2-25457261-C-A c.2626G>T p.D876Y Missense 23/23 - 1
2-25457261-C-T c.2626G>A p.D876N Missense 23/23 - 1
2-25457264-GT-G c.2623del p.T875Lfs*6 Frameshift 23/23 - 1
2-25457265-A-C c.2622T>G p.Y874* Nonsense 23/23 - 1
2-25457265-A-T c.2622T>A p.Y874* Nonsense 23/23 - 1
2-25457269-T-C c.2618A>G p.H873R Missense 23/23 - 4
2-25457269-TG-GC c.2617_2618delinsGC p.H873A Missense 23/23 - 1
2-25457270-G-A c.2617C>T p.H873Y Missense 23/23 - 1
2-25457270-G-C c.2617C>G p.H873D Missense 23/23 - 1
2-25457270-G-T c.2617C>A p.H873N Missense 23/23 - 1
2-25457276-G-C c.2611C>G p.P871A Missense 23/23 - 1
2-25457280-AC-CT c.2606_2607delinsAG p.G869E Missense 23/23 - 2
2-25457281-C-A c.2606G>T p.G869V Missense 23/23 - 1
2-25457280-AC-A c.2606del p.G869Vfs*12 Frameshift 23/23 - 1
2-25457283-A-C c.2604T>G p.F868L Missense 23/23 - 3
2-25457284-A-G c.2603T>C p.F868S Missense 23/23 - 2
2-25457283-A-T c.2604T>A p.F868L Missense 23/23 - 1
2-25457285-A-G c.2602T>C p.F868L Missense 23/23 - 4
2-25457287-AC-TA c.2599_2600delinsTA p.V867* Nonsense 23/23 - 1
2-25457708-T-A c.2598-419A>T - IntronicSNV - 22/22 6
2-25457708-T-C c.2598-419A>G - IntronicSNV - 22/22 6
2-25458100-C-A c.2597+476G>T - IntronicSNV - 22/22 1
2-25458100-C-T c.2597+476G>A - IntronicSNV - 22/22 1
2-25458546-C-T c.2597+30G>A - IntronicSNV - 22/22 6
2-25458574-A-C c.2597+2T>G - IntronicSNV - 22/22 1
2-25458575-C-A c.2597+1G>T - IntronicSNV - 22/22 1
2-25458575-C-T c.2597+1G>A - IntronicSNV - 22/22 1
2-25458576-C-A c.2597G>T p.R866M Missense 22/23 - 1
2-25458578-T-A c.2595A>T p.E865D Missense 22/23 - 1
2-25458580-C-T c.2593G>A p.E865K Missense 22/23 - 2
2-25458581-C-A c.2592G>T p.M864I Missense 22/23 - 1
2-25458581-C-G c.2592G>C p.M864I Missense 22/23 - 1
2-25458581-C-T c.2592G>A p.M864I Missense 22/23 - 1
2-25458582-A-C c.2591T>G p.M864R Missense 22/23 - 1
2-25458585-T-C c.2588A>G p.E863G Missense 22/23 - 1
2-25458585-TC-GA c.2587_2588inv p.E863S Missense 22/23 - 1
2-25458588-G-A c.2585C>T p.T862I Missense 22/23 - 3
2-25458588-G-T c.2585C>A p.T862N Missense 22/23 - 1
2-25458587-AGT-A c.2584_2585del p.T862* Frameshift 22/23 - 1
2-25458591-C-T c.2582G>A p.C861Y Missense 22/23 - 2
2-25458592-A-G c.2581T>C p.C861R Missense 22/23 - 1
2-25458592-CACCA-C c.2578_2581del p.W860Afs*20 Frameshift 22/23 - 1
2-25458593-C-T c.2580G>A p.W860* Nonsense 22/23 - 4
2-25458594-CA-GC c.2578_2579delinsGC p.W860A Missense 22/23 - 1
2-25458594-C-T c.2579G>A p.W860* Nonsense 22/23 - 2
2-25458595-A-G c.2578T>C p.W860R Missense 22/23 - 19
2-25458595-A-T c.2578T>A p.W860R Missense 22/23 - 6
2-25458595-CA-C c.2578del p.W860Gfs*21 Frameshift 22/23 - 1
2-25458595-CATAA-C c.2575_2578del p.L859Gfs*21 Frameshift 22/23 - 1
2-25458595-A-AT c.2577dup p.W860Mfs*4 Frameshift 22/23 - 2
2-25458596-T-A c.2577A>T p.L859F Missense 22/23 - 1
2-25458596-T-G c.2577A>C p.L859F Missense 22/23 - 1
2-25458597-A-C c.2576T>G p.L859* Nonsense 22/23 - 2
2-25458597-A-T c.2576T>A p.L859* Nonsense 22/23 - 3
2-25458596-TA-T c.2576del p.L859Yfs*22 Frameshift 22/23 - 1
2-25458603-T-A c.2570A>T p.D857V Missense 22/23 - 1
2-25458603-T-G c.2570A>C p.D857A Missense 22/23 - 1
2-25458604-C-T c.2569G>A p.D857N Missense 22/23 - 1
2-25458606-CT-C c.2567del p.E856Gfs*25 Frameshift 22/23 - 1
2-25458606-CTCTTTCT-C c.2561_2567del p.E854Gfs*25 Frameshift 22/23 - 1
2-25458607-CT-C c.2565del p.E856Rfs*25 Frameshift 22/23 - 1
2-25458613-C-G c.2560G>C p.E854Q Missense 22/23 - 1
2-25458619-AT-A c.2554del p.M852* Frameshift 22/23 - 1
2-25458619-T-C c.2554A>G p.M852V Missense 22/23 - 1
2-25458619-T-TTA c.2553_2554insTA p.M852* Nonsense 22/23 - 1
2-25458620-TGA-T c.2552_2553del p.F851Yfs*3 Frameshift 22/23 - 1
2-25458620-TG-T c.2553del p.F851Lfs*2 Frameshift 22/23 - 1
2-25458621-A-ATT c.2551_2552insAA p.F851* Nonsense 22/23 - 1
2-25458620-G-GA c.2552dup p.M852Hfs*3 Frameshift 22/23 - 2
2-25458624-GA-G c.2549del p.V850Afs*3 Frameshift 22/23 - 1
2-25458625-AC-A c.2548del p.V850Sfs*3 Frameshift 22/23 - 2
2-25458625-C-T c.2548G>A p.V850I Missense 22/23 - 1
2-25458627-G-A c.2546C>T p.P849L Missense 22/23 - 1
2-25458627-G-C c.2546C>G p.P849R Missense 22/23 - 2
2-25458627-G-T c.2546C>A p.P849H Missense 22/23 - 1
2-25458626-AG-A c.2546del p.P849Lfs*4 Frameshift 22/23 - 2
2-25458628-G-T c.2545C>A p.P849T Missense 22/23 - 1
2-25458628-GA-G c.2544del p.P849Lfs*4 Frameshift 22/23 - 1
2-25458635-GC-G c.2538del p.Q846Hfs*7 Frameshift 22/23 - 1
2-25458637-G-A c.2536C>T p.Q846* Nonsense 22/23 - 3
2-25458643-T-A c.2530A>T p.K844* Nonsense 22/23 - 1
2-25458643-T-C c.2530A>G p.K844E Missense 22/23 - 1
2-25458645-C-T c.2528G>A p.G843D Missense 22/23 - 1
2-25458644-G-GC c.2528dup p.K844Qfs*11 Frameshift 22/23 - 1
2-25458648-T-C c.2525A>G p.Q842R Missense 22/23 - 3
2-25458652-T-C c.2521A>G p.K841E Missense 22/23 - 3
2-25458652-T-G c.2521A>C p.K841Q Missense 22/23 - 1
2-25458661-T-C c.2512A>G p.N838D Missense 22/23 - 9
2-25458663-G-C c.2510C>G p.S837* Nonsense 22/23 - 2
2-25458663-G-T c.2510C>A p.S837* Nonsense 22/23 - 4
2-25458666-C-T c.2507G>A p.R836K Missense 22/23 - 1
2-25458666-CT-GC c.2506_2507delinsGC p.R836A Missense 22/23 - 5
2-25458667-T-A c.2506A>T p.R836W Missense 22/23 - 2
2-25458669-G-A c.2504C>T p.T835M Missense 22/23 - 3
2-25458672-AG-A c.2501del p.T834Ifs*7 Frameshift 22/23 - 1
2-25458672-G-A c.2501C>T p.T834I Missense 22/23 - 1
2-25458673-T-C c.2500A>G p.T834A Missense 22/23 - 1
2-25458681-CT-TC c.2491_2492delinsGA p.R831E Missense 22/23 - 1
2-25458681-CT-TG c.2491_2492delinsCA p.R831Q Missense 22/23 - 1
2-25458682-TCA-T c.2489_2490del p.V830Efs*24 Frameshift 22/23 - 1
2-25458687-T-C c.2486A>G p.K829R Missense 22/23 - 1
2-25458692-TG-T c.2481del p.F827Lfs*4 Frameshift 22/23 - 1
2-25458695-C-A c.2479-1G>T - IntronicSNV - 21/22 1
2-25458695-C-T c.2479-1G>A - IntronicSNV - 21/22 1
2-25458696-T-C c.2479-2A>G - IntronicSNV - 21/22 1
2-25459803-A-C c.2478+2T>G - IntronicSNV - 21/22 1
2-25459803-A-G c.2478+2T>C - IntronicSNV - 21/22 1
2-25459804-C-T c.2478+1G>A - IntronicSNV - 21/22 4
2-25459805-C-A c.2478G>T p.K826N Missense 21/23 - 2
2-25459805-C-G c.2478G>C p.K826N Missense 21/23 - 1
2-25459805-C-T c.2478G>A p.K826= Synonymous 21/23 - 1
2-25459806-T-A c.2477A>T p.K826M Missense 21/23 - 1
2-25459806-T-C c.2477A>G p.K826R Missense 21/23 - 3
2-25459806-T-G c.2477A>C p.K826T Missense 21/23 - 1
2-25459807-TG-T c.2475del p.K826Sfs*5 Frameshift 21/23 - 1
2-25459810-C-A c.2473G>T p.A825S Missense 21/23 - 1
2-25459810-C-T c.2473G>A p.A825T Missense 21/23 - 1
2-25459813-AT-A c.2470del p.I824* Frameshift 21/23 - 1
2-25459813-T-C c.2470A>G p.I824V Missense 21/23 - 1
2-25459813-T-TC c.2469dup p.I824Dfs*31 Frameshift 21/23 - 1
2-25459815-C-T c.2468G>A p.R823K Missense 21/23 - 1
2-25459817-GC-G c.2465del p.G822Afs*3 Frameshift 21/23 - 1
2-25459820-CA-C c.2463del p.H821Qfs*4 Frameshift 21/23 - 1
2-25459821-T-C c.2462A>G p.H821R Missense 21/23 - 2
2-25459822-TG-T c.2461del p.H821Mfs*4 Frameshift 21/23 - 1
2-25459824-T-A c.2459A>T p.E820V Missense 21/23 - 1
2-25459829-A-T c.2454T>A p.C818* Nonsense 21/23 - 2
2-25459836-T-A c.2447A>T p.Q816L Missense 21/23 - 2
2-25459837-G-A c.2446C>T p.Q816* Nonsense 21/23 - 3
2-25459837-G-T c.2446C>A p.Q816K Missense 21/23 - 1
2-25459839-A-G c.2444T>C p.L815P Missense 21/23 - 2
2-25459840-G-T c.2443C>A p.L815M Missense 21/23 - 1
2-25459849-TAT-G c.2432_2434delinsC p.D811Afs*43 Frameshift 21/23 - 1
2-25459852-C-G c.2431G>C p.D811H Missense 21/23 - 1
2-25459855-TCA-T c.2426_2427del p.V809Efs*2 Frameshift 21/23 - 1
2-25459858-C-A c.2425G>T p.V809L Missense 21/23 - 1
2-25459860-G-A c.2423C>T p.T808I Missense 21/23 - 1
2-25459861-GTGGAT-G c.2418_2422del p.S807Cfs*3 Frameshift 21/23 - 1
2-25459861-GTGGATGCCAACGGC-G c.2409_2422del p.R803Sfs*4 SpliceAcceptorDeletion 21/23 - 1
2-25459866-G-A c.2417C>T p.A806V Missense 21/23 - 1
2-25459868-C-CA c.2414dup p.L805Ffs*7 Frameshift 21/23 - 1
2-25459872-G-A c.2411C>T p.P804L Missense 21/23 - 2
2-25459873-G-A c.2410C>T p.P804S Missense 21/23 - 1
2-25459874-C-A c.2409G>T p.R803S Missense 21/23 - 7
2-25459874-C-G c.2409G>C p.R803S Missense 21/23 - 7
2-25461915-C-T c.2408+84G>A - IntronicSNV - 20/22 1
2-25461994-C-T c.2408+5G>A - IntronicSNV - 20/22 2
2-25461997-A-C c.2408+2T>G - IntronicSNV - 20/22 1
2-25461997-A-G c.2408+2T>C - IntronicSNV - 20/22 3
2-25461998-C-G c.2408+1G>C - IntronicSNV - 20/22 1
2-25461998-C-T c.2408+1G>A - IntronicSNV - 20/22 2
2-25461999-C-T c.2408G>A p.R803K Missense 20/23 - 2
2-25462000-T-C c.2407A>G p.R803G Missense 20/23 - 1
2-25462005-A-C c.2402T>G p.M801R Missense 20/23 - 1
2-25462005-A-AT c.2401dup p.M801Nfs*11 Frameshift 20/23 - 1
2-25462006-T-C c.2401A>G p.M801V Missense 20/23 - 6
2-25462009-C-T c.2398G>A p.G800S Missense 20/23 - 1
2-25462009-CG-C c.2397del p.G800Vfs*2 Frameshift 20/23 - 1
2-25462012-G-A c.2395C>T p.P799S Missense 20/23 - 2
2-25462012-G-T c.2395C>A p.P799T Missense 20/23 - 3
2-25462014-A-C c.2393T>G p.L798R Missense 20/23 - 2
2-25462014-A-G c.2393T>C p.L798P Missense 20/23 - 1
2-25462017-T-C c.2390A>G p.N797S Missense 20/23 - 3
2-25462018-T-C c.2389A>G p.N797D Missense 20/23 - 1
2-25462018-T-G c.2389A>C p.N797H Missense 20/23 - 1
2-25462018-T-TA c.2388dup p.N797* Nonsense 20/23 - 1
2-25462020-C-A c.2387G>T p.G796V Missense 20/23 - 1
2-25462020-C-T c.2387G>A p.G796D Missense 20/23 - 5
2-25462021-C-A c.2386G>T p.G796C Missense 20/23 - 1
2-25462022-C-A c.2385G>T p.W795C Missense 20/23 - 6
2-25462022-C-G c.2385G>C p.W795C Missense 20/23 - 7
2-25462022-C-T c.2385G>A p.W795* Nonsense 20/23 - 4
2-25462023-C-A c.2384G>T p.W795L Missense 20/23 - 1
2-25462023-C-G c.2384G>C p.W795S Missense 20/23 - 2
2-25462023-C-T c.2384G>A p.W795* Nonsense 20/23 - 4
2-25462024-A-G c.2383T>C p.W795R Missense 20/23 - 2
2-25462024-A-T c.2383T>A p.W795R Missense 20/23 - 2
2-25462026-A-G c.2381T>C p.F794S Missense 20/23 - 1
2-25462025-G-C c.2382C>G p.F794L Missense 20/23 - 1
2-25462025-G-T c.2382C>A p.F794L Missense 20/23 - 1
2-25462027-A-G c.2380T>C p.F794L Missense 20/23 - 1
2-25462028-G-C c.2379C>G p.Y793* Nonsense 20/23 - 1
2-25462028-G-T c.2379C>A p.Y793* Nonsense 20/23 - 1
2-25462030-A-C c.2377T>G p.Y793D Missense 20/23 - 1
2-25462032-C-T c.2375G>A p.R792H Missense 20/23 - 8
2-25462035-G-A c.2372C>T p.A791V Missense 20/23 - 1
2-25462035-GC-G c.2371del p.A791Pfs*11 Frameshift 20/23 - 1
2-25462038-C-T c.2369G>A p.R790K Missense 20/23 - 2
2-25462040-G-C c.2367C>G p.H789Q Missense 20/23 - 1
2-25462040-G-T c.2367C>A p.H789Q Missense 20/23 - 1
2-25462041-T-G c.2366A>C p.H789P Missense 20/23 - 1
2-25462043-TGCA-T c.2361_2363del p.A788del InFrameDeletion 20/23 - 1
2-25462048-C-T c.2359G>A p.A787T Missense 20/23 - 1
2-25462050-G-C c.2357C>G p.S786* Nonsense 20/23 - 1
2-25462050-G-T c.2357C>A p.S786* Nonsense 20/23 - 1
2-25462054-ACTTCTTTGGC-A c.2344_2353del p.A782Cfs*17 Frameshift 20/23 - 1
2-25462054-C-T c.2353G>A p.V785M Missense 20/23 - 1
2-25462057-C-T c.2350G>A p.E784K Missense 20/23 - 1
2-25462059-T-C c.2348A>G p.K783R Missense 20/23 - 1
2-25462060-T-C c.2347A>G p.K783E Missense 20/23 - 1
2-25462062-G-A c.2345C>T p.A782V Missense 20/23 - 1
2-25462062-G-C c.2345C>G p.A782G Missense 20/23 - 1
2-25462063-C-T c.2344G>A p.A782T Missense 20/23 - 1
2-25462063-GC-G c.2344del p.A782Pfs*20 Frameshift 20/23 - 1
2-25462065-T-C c.2342A>G p.D781G Missense 20/23 - 3
2-25462066-C-G c.2341G>C p.D781H Missense 20/23 - 1
2-25462063-CATCA-C c.2340_2343del p.I780Mfs*21 Frameshift 20/23 - 1
2-25462068-A-C c.2339T>G p.I780S Missense 20/23 - 1
2-25462068-A-G c.2339T>C p.I780T Missense 20/23 - 9
2-25462074-A-C c.2333T>G p.V778G Missense 20/23 - 1
2-25462074-A-T c.2333T>A p.V778E Missense 20/23 - 1
2-25462077-G-A c.2330C>T p.P777L Missense 20/23 - 1
2-25462077-G-C c.2330C>G p.P777R Missense 20/23 - 3
2-25462077-G-T c.2330C>A p.P777H Missense 20/23 - 2
2-25462080-T-C c.2327A>G p.N776S Missense 20/23 - 1
2-25462086-T-A c.2323-2A>T - IntronicSNV - 19/22 1
2-25462086-T-C c.2323-2A>G - IntronicSNV - 19/22 1
2-25463166-CTATACCTCGA-C c.2318_2322+5del - SpliceDonorDeletion 19/23 19/22 1
2-25463170-C-A c.2322+1G>T - IntronicSNV - 19/22 1
2-25463170-C-G c.2322+1G>C - IntronicSNV - 19/22 1
2-25463170-C-T c.2322+1G>A - IntronicSNV - 19/22 4
2-25463171-C-A c.2322G>T p.E774D Missense 19/23 - 1
2-25463171-C-G c.2322G>C p.E774D Missense 19/23 - 1
2-25463171-C-T c.2322G>A p.E774= Synonymous 19/23 - 1
2-25463172-T-C c.2321A>G p.E774G Missense 19/23 - 1
2-25463172-T-G c.2321A>C p.E774A Missense 19/23 - 1
2-25463173-C-A c.2320G>T p.E774* Nonsense 19/23 - 2
2-25463173-C-T c.2320G>A p.E774K Missense 19/23 - 1
2-25463174-CGAGAA-C c.2315_2319del p.F772* Frameshift 19/23 - 1
2-25463175-A-G c.2318T>C p.L773P Missense 19/23 - 1
2-25463176-G-C c.2317C>G p.L773V Missense 19/23 - 2
2-25463176-G-T c.2317C>A p.L773I Missense 19/23 - 1
2-25463176-GAA-G c.2315_2316del p.F772Sfs*9 Frameshift 19/23 - 1
2-25463179-A-T c.2314T>A p.F772I Missense 19/23 - 1
2-25463181-C-A c.2312G>T p.R771L Missense 19/23 - 5
2-25463181-C-G c.2312G>C p.R771P Missense 19/23 - 2
2-25463181-CG-GC c.2311_2312delinsGC p.R771A Missense 19/23 - 3
2-25463181-C-T c.2312G>A p.R771Q Missense 19/23 - 24
2-25463182-G-A c.2311C>T p.R771* Nonsense 19/23 - 18
2-25463182-G-C c.2311C>G p.R771G Missense 19/23 - 5
2-25463182-G-GGACAT c.2310_2311insATGTC p.R771Mfs*10 Frameshift 19/23 - 1
2-25463183-CG-AA c.2309_2310delinsTT p.S770F Missense 19/23 - 1
2-25463184-G-A c.2309C>T p.S770L Missense 19/23 - 13
2-25463184-G-C c.2309C>G p.S770W Missense 19/23 - 3
2-25463184-G-T c.2309C>A p.S770* Nonsense 19/23 - 1
2-25463185-A-C c.2308T>G p.S770A Missense 19/23 - 2
2-25463186-G-C c.2307C>G p.I769M Missense 19/23 - 1
2-25463187-A-C c.2306T>G p.I769S Missense 19/23 - 1
2-25463187-A-T c.2306T>A p.I769N Missense 19/23 - 1
2-25463188-T-C c.2305A>G p.I769V Missense 19/23 - 1
2-25463189-G-C c.2304C>G p.D768E Missense 19/23 - 2
2-25463189-G-T c.2304C>A p.D768E Missense 19/23 - 2
2-25463190-GT-G c.2303del p.D768Afs*11 Frameshift 19/23 - 1
2-25463190-T-G c.2303A>C p.D768A Missense 19/23 - 2
2-25463191-C-G c.2302G>C p.D768H Missense 19/23 - 1
2-25463191-C-T c.2302G>A p.D768N Missense 19/23 - 2
2-25463194-T-C c.2299A>G p.R767G Missense 19/23 - 1
2-25463195-C-A c.2298G>T p.K766N Missense 19/23 - 1
2-25463195-C-G c.2298G>C p.K766N Missense 19/23 - 1
2-25463196-CTT-C c.2296_2297del p.K766Efs*15 Frameshift 19/23 - 1
2-25463195-C-CT c.2297dup p.R767Efs*15 Frameshift 19/23 - 2
2-25463197-T-C c.2296A>G p.K766E Missense 19/23 - 2
2-25463197-T-TA c.2295_2296insT p.K766* Nonsense 19/23 - 1
2-25463199-T-C c.2294A>G p.D765G Missense 19/23 - 2
2-25463202-C-CT c.2290dup p.S764Kfs*2 Frameshift 19/23 - 1
2-25463205-A-C c.2288T>G p.V763G Missense 19/23 - 1
2-25463206-C-A c.2287G>T p.V763F Missense 19/23 - 1
2-25463208-C-A c.2285G>T p.G762V Missense 19/23 - 1
2-25463208-CC-GT c.2284_2285delinsAC p.G762T Missense 19/23 - 1
2-25463207-GC-G c.2285del p.G762Afs*17 Frameshift 19/23 - 1
2-25463210-C-T c.2283G>A p.M761I Missense 19/23 - 1
2-25463212-T-C c.2281A>G p.M761V Missense 19/23 - 5
2-25463214-GCCA-G c.2276_2278del p.V759del InFrameDeletion 19/23 - 1
2-25463217-AC-A c.2275del p.V759Wfs*20 Frameshift 19/23 - 1
2-25463219-C-CT c.2273_2274insA p.V759Gfs*6 Frameshift 19/23 - 1
2-25463223-T-A c.2270A>T p.N757I Missense 19/23 - 1
2-25463226-T-G c.2267A>C p.E756A Missense 19/23 - 5
2-25463227-CAA-C c.2264_2265del p.F755* Frameshift 19/23 - 1
2-25463229-A-G c.2264T>C p.F755S Missense 19/23 - 9
2-25463227-C-CA c.2265dup p.E756* Nonsense 19/23 - 2
2-25463230-A-C c.2263T>G p.F755V Missense 19/23 - 1
2-25463230-A-T c.2263T>A p.F755I Missense 19/23 - 2
2-25463232-A-C c.2261T>G p.L754R Missense 19/23 - 3
2-25463232-A-G c.2261T>C p.L754P Missense 19/23 - 1
2-25463232-A-T c.2261T>A p.L754H Missense 19/23 - 3
2-25463233-G-A c.2260C>T p.L754F Missense 19/23 - 1
2-25463233-G-C c.2260C>G p.L754V Missense 19/23 - 1
2-25463234-C-A c.2259G>T p.W753C Missense 19/23 - 2
2-25463234-C-G c.2259G>C p.W753C Missense 19/23 - 3
2-25463233-GC-G c.2259del p.W753Cfs*26 Frameshift 19/23 - 1
2-25463234-C-T c.2259G>A p.W753* Nonsense 19/23 - 2
2-25463235-C-A c.2258G>T p.W753L Missense 19/23 - 1
2-25463235-C-T c.2258G>A p.W753* Nonsense 19/23 - 2
2-25463236-A-C c.2257T>G p.W753G Missense 19/23 - 1
2-25463236-A-G c.2257T>C p.W753R Missense 19/23 - 2
2-25463236-A-T c.2257T>A p.W753R Missense 19/23 - 2
2-25463238-A-G c.2255T>C p.F752S Missense 19/23 - 1
2-25463238-A-T c.2255T>A p.F752Y Missense 19/23 - 1
2-25463237-G-C c.2256C>G p.F752L Missense 19/23 - 4
2-25463237-G-T c.2256C>A p.F752L Missense 19/23 - 3
2-25463239-A-C c.2254T>G p.F752V Missense 19/23 - 2
2-25463239-A-G c.2254T>C p.F752L Missense 19/23 - 4
2-25463239-A-T c.2254T>A p.F752I Missense 19/23 - 2
2-25463240-G-C c.2253C>G p.F751L Missense 19/23 - 2
2-25463240-G-GT c.2252_2253insA p.F751Lfs*6 Frameshift 19/23 - 1
2-25463235-CAGA-C c.2255_2257del p.F752del InFrameDeletion 19/23 - 5
2-25463240-GA-G c.2252del p.F751Sfs*28 Frameshift 19/23 - 1
2-25463240-G-T c.2253C>A p.F751L Missense 19/23 - 1
2-25463242-A-C c.2251T>G p.F751V Missense 19/23 - 3
2-25463242-A-G c.2251T>C p.F751L Missense 19/23 - 4
2-25463242-A-T c.2251T>A p.F751I Missense 19/23 - 1
2-25463245-G-A c.2248C>T p.P750S Missense 19/23 - 1
2-25463242-AG-A c.2250del p.F751Sfs*28 Frameshift 19/23 - 2
2-25463246-GCG-CTC c.2245_2247delinsGAG p.R749E Missense 19/23 - 1
2-25463246-GCG-CTT c.2245_2247delinsAAG p.R749K Missense 19/23 - 1
2-25463245-GGC-G c.2246_2247del p.R749Pfs*7 Frameshift 19/23 - 1
2-25463247-C-A c.2246G>T p.R749L Missense 19/23 - 2
2-25463247-C-G c.2246G>C p.R749P Missense 19/23 - 1
2-25463247-C-T c.2246G>A p.R749H Missense 19/23 - 10
2-25463247-GC-G c.2246del p.R749Pfs*30 Frameshift 19/23 - 1
2-25463243-GGGGCGATCATCTCCCTCCTT-G c.2230_2249del p.K744Lfs*6 Frameshift 19/23 - 1
2-25463248-CGA-C c.2244_2245del p.D748Efs*8 Frameshift 19/23 - 1
2-25463248-G-A c.2245C>T p.R749C Missense 19/23 - 11
2-25463248-G-C c.2245C>G p.R749G Missense 19/23 - 4
2-25463251-C-T c.2242G>A p.D748N Missense 19/23 - 1
2-25463251-TC-T c.2242del p.D748Ifs*31 Frameshift 19/23 - 1
2-25463252-CA-C c.2241del p.D747Efs*32 Frameshift 19/23 - 1
2-25463255-T-TGG c.2237_2238insCC p.D747Qfs*33 Frameshift 19/23 - 1
2-25463256-C-A c.2237G>T p.G746V Missense 19/23 - 1
2-25463260-C-A c.2233G>T p.E745* Nonsense 19/23 - 1
2-25463261-CT-C c.2231del p.K744Rfs*35 Frameshift 19/23 - 1
2-25463265-G-A c.2228C>T p.P743L Missense 19/23 - 1
2-25463263-T-TG c.2229dup p.K744Qfs*5 Frameshift 19/23 - 1
2-25463266-G-A c.2227C>T p.P743S Missense 19/23 - 1
2-25463266-G-C c.2227C>G p.P743A Missense 19/23 - 2
2-25463266-G-GC c.2226dup p.P743Afs*6 Frameshift 19/23 - 1
2-25463268-C-A c.2225G>T p.R742L Missense 19/23 - 1
2-25463268-C-G c.2225G>C p.R742P Missense 19/23 - 2
2-25463268-C-T c.2225G>A p.R742Q Missense 19/23 - 2
2-25463269-CG-C c.2224del p.R742Gfs*37 Frameshift 19/23 - 1
2-25463271-G-A c.2222C>T p.A741V Missense 19/23 - 5
2-25463271-G-C c.2222C>G p.A741G Missense 19/23 - 1
2-25463271-G-T c.2222C>A p.A741E Missense 19/23 - 1
2-25463272-C-CA c.2220dup p.A741Cfs*8 Frameshift 19/23 - 1
2-25463277-T-G c.2216A>C p.H739P Missense 19/23 - 2
2-25463277-TG-GC c.2215_2216delinsGC p.H739A Missense 19/23 - 1
2-25463280-A-G c.2213T>C p.L738P Missense 19/23 - 1
2-25463280-A-T c.2213T>A p.L738Q Missense 19/23 - 2
2-25463283-A-C c.2210T>G p.L737R Missense 19/23 - 3
2-25463283-A-G c.2210T>C p.L737P Missense 19/23 - 1
2-25463284-G-A c.2209C>T p.L737F Missense 19/23 - 2
2-25463286-C-A c.2207G>T p.R736L Missense 19/23 - 2
2-25463286-CG-GC c.2206_2207delinsGC p.R736A Missense 19/23 - 3
2-25463286-C-T c.2207G>A p.R736H Missense 19/23 - 27
2-25463286-GCGGTAGAACTCAAA-G c.2194_2207del p.F732Pfs*4 Frameshift 19/23 - 1
2-25463287-G-A c.2206C>T p.R736C Missense 19/23 - 22
2-25463287-G-C c.2206C>G p.R736G Missense 19/23 - 1
2-25463288-G-C c.2205C>G p.Y735* Nonsense 19/23 - 3
2-25463288-G-T c.2205C>A p.Y735* Nonsense 19/23 - 2
2-25463289-T-A c.2204A>T p.Y735F Missense 19/23 - 2
2-25463289-TA-GC c.2203_2204delinsGC p.Y735A Missense 19/23 - 2
2-25463289-T-C c.2204A>G p.Y735C Missense 19/23 - 25
2-25463289-T-G c.2204A>C p.Y735S Missense 19/23 - 11
2-25463290-A-G c.2203T>C p.Y735H Missense 19/23 - 1
2-25463291-AG-A c.2202del p.Y735Tfs*44 Frameshift 19/23 - 2
2-25463291-G-GAT c.2201_2202insAT p.F734Lfs*46 Frameshift 19/23 - 1
2-25463291-G-C c.2202C>G p.F734L Missense 19/23 - 4
2-25463291-G-T c.2202C>A p.F734L Missense 19/23 - 4
2-25463293-A-G c.2200T>C p.F734L Missense 19/23 - 4
2-25463295-CTCA-C c.2196_2198del p.F732_E733delinsL MultiAAMissense 19/23 - 1
2-25463295-T-A c.2198A>T p.E733V Missense 19/23 - 1
2-25463295-T-C c.2198A>G p.E733G Missense 19/23 - 1
2-25463295-T-G c.2198A>C p.E733A Missense 19/23 - 2
2-25463296-C-T c.2197G>A p.E733K Missense 19/23 - 1
2-25463297-CAAA-C c.2194_2196del p.F732del InFrameDeletion 19/23 - 3
2-25463298-AA-GC c.2194_2195delinsGC p.F732A Missense 19/23 - 3
2-25463298-AA-TC c.2194_2195delinsGA p.F732D Missense 19/23 - 1
2-25463298-A-C c.2195T>G p.F732C Missense 19/23 - 1
2-25463298-A-G c.2195T>C p.F732S Missense 19/23 - 4
2-25463296-CAAAG-C c.2193_2196del p.F731Lfs*47 Frameshift 19/23 - 2
2-25463296-C-CA c.2196dup p.E733* Nonsense 19/23 - 4
2-25463297-A-C c.2196T>G p.F732L Missense 19/23 - 4
2-25463297-A-T c.2196T>A p.F732L Missense 19/23 - 3
2-25463299-A-C c.2194T>G p.F732V Missense 19/23 - 1
2-25463299-A-G c.2194T>C p.F732L Missense 19/23 - 3
2-25463299-A-T c.2194T>A p.F732I Missense 19/23 - 1
2-25463299-A-AG c.2193dup p.F732Lfs*2 Frameshift 19/23 - 1
2-25463300-G-TT c.2193delinsAA p.F731Lfs*3 Frameshift 19/23 - 1
2-25463301-A-C c.2192T>G p.F731C Missense 19/23 - 2
2-25463301-A-G c.2192T>C p.F731S Missense 19/23 - 1
2-25463301-A-T c.2192T>A p.F731Y Missense 19/23 - 1
2-25463297-AAAG-A c.2193_2195del p.F732del InFrameDeletion 19/23 - 5
2-25463300-G-C c.2193C>G p.F731L Missense 19/23 - 4
2-25463300-G-T c.2193C>A p.F731L Missense 19/23 - 1
2-25463302-A-G c.2191T>C p.F731L Missense 19/23 - 2
2-25463302-A-T c.2191T>A p.F731I Missense 19/23 - 1
2-25463303-AG-A c.2190del p.F731Sfs*48 Frameshift 19/23 - 1
2-25463304-A-G c.2189T>C p.L730P Missense 19/23 - 2
2-25463304-GA-G c.2189del p.L730Pfs*49 Frameshift 19/23 - 2
2-25463305-G-A c.2188C>T p.L730F Missense 19/23 - 1
2-25463307-C-A c.2186G>T p.R729L Missense 19/23 - 1
2-25463307-CG-AC c.2185_2186delinsGT p.R729V Missense 19/23 - 1
2-25463307-CG-GC c.2185_2186delinsGC p.R729A Missense 19/23 - 2
2-25463307-C-T c.2186G>A p.R729Q Missense 19/23 - 6
2-25463308-G-A c.2185C>T p.R729W Missense 19/23 - 18
2-25463308-G-C c.2185C>G p.R729G Missense 19/23 - 3
2-25463307-CG-C c.2185del p.R729Gfs*50 Frameshift 19/23 - 1
2-25463310-C-A c.2183G>T p.G728V Missense 19/23 - 1
2-25463310-CC-GT c.2182_2183delinsAC p.G728T Missense 19/23 - 1
2-25463310-C-T c.2183G>A p.G728D Missense 19/23 - 2
2-25463311-C-G c.2182G>C p.G728R Missense 19/23 - 1
2-25463312-CA-C c.2181del p.G728Afs*51 Frameshift 19/23 - 1
2-25463316-C-A c.2177G>T p.G726V Missense 19/23 - 2
2-25463319-T-A c.2174A>T p.E725V Missense 19/23 - 1
2-25463483-G-A c.2173+26C>T - IntronicSNV - 18/22 10
2-25463502-TACCTACCGTAG-T c.2169_2173+6del - SpliceDonorDeletion 18/23 18/22 1
2-25463504-ACCTACCG-A c.2172_2173+5del - SpliceDonorDeletion 18/23 18/22 1
2-25463507-A-G c.2173+2T>C - IntronicSNV - 18/22 1
2-25463508-C-T c.2173+1G>A - IntronicSNV - 18/22 4
2-25463507-AC-A c.2173+1del - IntronicDeletion 18/23 - 1
2-25463509-CCG-C c.2172_2173del p.Y724* SpliceDonorDeletion 18/23 - 1
2-25463510-G-C c.2172C>G p.Y724* Nonsense 18/23 - 1
2-25463510-G-T c.2172C>A p.Y724* Nonsense 18/23 - 1
2-25463511-T-C c.2171A>G p.Y724C Missense 18/23 - 2
2-25463514-A-ACTAC c.2167_2168insGTAG p.L723Rfs*12 Frameshift 18/23 - 1
2-25463515-G-A c.2167C>T p.L723F Missense 18/23 - 1
2-25463517-C-T c.2165G>A p.G722D Missense 18/23 - 1
2-25463516-GC-G c.2165del p.G722Afs*57 Frameshift 18/23 - 1
2-25463523-C-A c.2159G>T p.R720L Missense 18/23 - 2
2-25463523-C-T c.2159G>A p.R720H Missense 18/23 - 3
2-25463524-G-A c.2158C>T p.R720C Missense 18/23 - 1
2-25463526-G-A c.2156C>T p.A719V Missense 18/23 - 1
2-25463529-G-A c.2153C>T p.P718L Missense 18/23 - 4
2-25463531-G-A c.2151C>T p.N717= Synonymous 18/23 - 1
2-25463532-T-C c.2150A>G p.N717S Missense 18/23 - 2
2-25463533-TTGACGATGGAG-T c.2139_2149del p.S714Pfs*16 Frameshift 18/23 - 1
2-25463535-A-C c.2147T>G p.V716G Missense 18/23 - 2
2-25463535-A-T c.2147T>A p.V716D Missense 18/23 - 4
2-25463536-C-A c.2146G>T p.V716F Missense 18/23 - 3
2-25463536-C-T c.2146G>A p.V716I Missense 18/23 - 5
2-25463538-A-T c.2144T>A p.I715N Missense 18/23 - 2
2-25463538-ATGGAGAGG-A c.2136_2143del p.L713Rfs*18 Frameshift 18/23 - 1
2-25463539-T-TG c.2142dup p.I715Hfs*19 Frameshift 18/23 - 2
2-25463541-G-A c.2141C>T p.S714F Missense 18/23 - 2
2-25463541-G-C c.2141C>G p.S714C Missense 18/23 - 25
2-25463542-A-G c.2140T>C p.S714P Missense 18/23 - 1
2-25463544-GA-G c.2138del p.L713Pfs*66 Frameshift 18/23 - 1
2-25463547-T-C c.2135A>G p.D712G Missense 18/23 - 1
2-25463549-A-AT c.2132dup p.N711Kfs*2 Frameshift 18/23 - 1
2-25463553-C-A c.2129G>T p.C710F Missense 18/23 - 1
2-25463553-C-T c.2129G>A p.C710Y Missense 18/23 - 1
2-25463552-GCAGGGACTGCCCCCAATCA-G c.2111_2129del p.V704Afs*69 Frameshift 18/23 - 1
2-25463553-C-G c.2129G>C p.C710S Missense 18/23 - 7
2-25463554-A-T c.2128T>A p.C710S Missense 18/23 - 8
2-25463556-G-A c.2126C>T p.P709L Missense 18/23 - 1
2-25463556-GG-AC c.2125_2126delinsGT p.P709V Missense 18/23 - 1
2-25463557-G-A c.2125C>T p.P709S Missense 18/23 - 2
2-25463559-AC-A c.2123del p.S708Ifs*71 Frameshift 18/23 - 1
2-25463560-T-A c.2122A>T p.S708C Missense 18/23 - 1
2-25463562-C-T c.2120G>A p.G707D Missense 18/23 - 5
2-25463563-C-T c.2119G>A p.G707S Missense 18/23 - 1
2-25463564-CCCCAA-C c.2114_2118del p.I705Rfs*6 Frameshift 18/23 - 1
2-25463565-C-T c.2117G>A p.G706E Missense 18/23 - 3
2-25463561-GC-G c.2120del p.G707Afs*72 Frameshift 18/23 - 1
2-25463566-C-A c.2116G>T p.G706W Missense 18/23 - 2
2-25463566-C-T c.2116G>A p.G706R Missense 18/23 - 1
2-25463568-A-C c.2114T>G p.I705S Missense 18/23 - 1
2-25463568-A-G c.2114T>C p.I705T Missense 18/23 - 8
2-25463568-A-T c.2114T>A p.I705N Missense 18/23 - 1
2-25463571-A-G c.2111T>C p.V704A Missense 18/23 - 2
2-25463575-G-C c.2107C>G p.L703V Missense 18/23 - 2
2-25463576-A-T c.2106T>A p.D702E Missense 18/23 - 1
2-25463577-T-A c.2105A>T p.D702V Missense 18/23 - 1
2-25463577-T-C c.2105A>G p.D702G Missense 18/23 - 2
2-25463578-C-A c.2104G>T p.D702Y Missense 18/23 - 2
2-25463578-C-T c.2104G>A p.D702N Missense 18/23 - 2
2-25463583-G-A c.2099C>T p.P700L Missense 18/23 - 5
2-25463583-G-C c.2099C>G p.P700R Missense 18/23 - 1
2-25463583-G-T c.2099C>A p.P700Q Missense 18/23 - 1
2-25463584-G-C c.2098C>G p.P700A Missense 18/23 - 1
2-25463584-G-T c.2098C>A p.P700T Missense 18/23 - 1
2-25463586-C-A c.2096G>T p.G699V Missense 18/23 - 2
2-25463586-C-T c.2096G>A p.G699D Missense 18/23 - 13
2-25463585-GCCCCACTCCTGGAT-G c.2083_2096del p.I695Pfs*13 SpliceAcceptorDeletion 18/23 17/22 1
2-25463587-C-G c.2095G>C p.G699R Missense 18/23 - 1
2-25463587-C-T c.2095G>A p.G699S Missense 18/23 - 6
2-25463588-C-A c.2094G>T p.W698C Missense 18/23 - 1
2-25463588-C-G c.2094G>C p.W698C Missense 18/23 - 2
2-25463585-GC-G c.2096del p.G699Afs*6 Frameshift 18/23 - 1
2-25463589-C-G c.2093G>C p.W698S Missense 18/23 - 1
2-25463589-C-T c.2093G>A p.W698* Nonsense 18/23 - 1
2-25463590-ACTC-A c.2089_2091del p.E697del InFrameDeletion 18/23 - 1
2-25463593-C-A c.2089G>T p.E697* Nonsense 18/23 - 1
2-25463592-T-TC c.2089dup p.E697Gfs*16 Frameshift 18/23 - 1
2-25463595-CT-C c.2087del p.Q696Rfs*9 Frameshift 18/23 - 1
2-25463595-T-G c.2087A>C p.Q696P Missense 18/23 - 2
2-25463596-G-A c.2086C>T p.Q696* Nonsense 18/23 - 2
2-25463595-TG-T c.2086del p.Q696Rfs*9 Frameshift 18/23 - 2
2-25463598-GAT-G c.2083_2084del p.I695Pfs*17 SpliceAcceptorDeletion 18/23 - 1
2-25463599-T-A c.2083A>T p.I695F Missense 18/23 - 1
2-25463871-C-T c.2083-272G>A - IntronicSNV - 17/22 7
2-25464428-T-C c.2082+3A>G - IntronicSNV - 17/22 1
2-25464430-C-A c.2082+1G>T - IntronicSNV - 17/22 1
2-25464430-C-T c.2082+1G>A - IntronicSNV - 17/22 3
2-25464433-G-A c.2080C>T p.H694Y Missense 17/23 - 2
2-25464436-T-A c.2077A>T p.K693* Nonsense 17/23 - 1
2-25464439-G-A c.2074C>T p.Q692* Nonsense 17/23 - 3
2-25464441-G-A c.2072C>T p.T691I Missense 17/23 - 2
2-25464444-A-C c.2069T>G p.V690G Missense 17/23 - 1
2-25464444-A-G c.2069T>C p.V690A Missense 17/23 - 1
2-25464444-A-T c.2069T>A p.V690D Missense 17/23 - 1
2-25464445-C-A c.2068G>T p.V690F Missense 17/23 - 1
2-25464445-C-T c.2068G>A p.V690I Missense 17/23 - 1
2-25464446-CG-C c.2067del p.S689Rfs*16 Frameshift 17/23 - 1
2-25464448-T-A c.2065A>T p.S689C Missense 17/23 - 1
2-25464449-TGCGGACG-T c.2058_2064del p.D686Efs*17 Frameshift 17/23 - 1
2-25464450-C-A c.2063G>T p.R688L Missense 17/23 - 2
2-25464450-C-G c.2063G>C p.R688P Missense 17/23 - 1
2-25464450-C-T c.2063G>A p.R688H Missense 17/23 - 6
2-25464451-G-A c.2062C>T p.R688C Missense 17/23 - 3
2-25464451-G-C c.2062C>G p.R688G Missense 17/23 - 1
2-25464453-A-C c.2060T>G p.V687G Missense 17/23 - 1
2-25464453-A-T c.2060T>A p.V687D Missense 17/23 - 1
2-25464454-C-A c.2059G>T p.V687F Missense 17/23 - 2
2-25464454-C-T c.2059G>A p.V687I Missense 17/23 - 1
2-25464455-G-C c.2058C>G p.D686E Missense 17/23 - 1
2-25464455-G-T c.2058C>A p.D686E Missense 17/23 - 1
2-25464456-T-A c.2057A>T p.D686V Missense 17/23 - 1
2-25464456-T-C c.2057A>G p.D686G Missense 17/23 - 2
2-25464456-T-G c.2057A>C p.D686A Missense 17/23 - 1
2-25464457-C-A c.2056G>T p.D686Y Missense 17/23 - 2
2-25464459-C-A c.2054G>T p.G685V Missense 17/23 - 1
2-25464459-C-T c.2054G>A p.G685E Missense 17/23 - 1
2-25464456-TC-T c.2056del p.D686Tfs*19 Frameshift 17/23 - 1
2-25464460-C-A c.2053G>T p.G685W Missense 17/23 - 1
2-25464460-C-G c.2053G>C p.G685R Missense 17/23 - 1
2-25464460-C-T c.2053G>A p.G685R Missense 17/23 - 2
2-25464463-C-A c.2050G>T p.V684F Missense 17/23 - 2
2-25464463-C-T c.2050G>A p.V684I Missense 17/23 - 1
2-25464464-G-C c.2049C>G p.Y683* Nonsense 17/23 - 1
2-25464464-G-T c.2049C>A p.Y683* Nonsense 17/23 - 2
2-25464465-T-C c.2048A>G p.Y683C Missense 17/23 - 1
2-25464466-A-C c.2047T>G p.Y683D Missense 17/23 - 3
2-25464467-AC-A c.2046del p.M682Ifs*23 Frameshift 17/23 - 2
2-25464468-A-C c.2045T>G p.M682R Missense 17/23 - 1
2-25464470-G-C c.2043C>G p.I681M Missense 17/23 - 2
2-25464470-G-T c.2043C>A p.I681= Synonymous 17/23 - 1
2-25464470-TG-T c.2043del p.M682Cfs*23 Frameshift 17/23 - 7
2-25464471-A-T c.2042T>A p.I681N Missense 17/23 - 1
2-25464471-AT-C c.2041_2042delinsG p.I681Afs*24 Frameshift 17/23 - 1
2-25464472-T-A c.2041A>T p.I681F Missense 17/23 - 1
2-25464473-C-A c.2040G>T p.K680N Missense 17/23 - 2
2-25464473-C-G c.2040G>C p.K680N Missense 17/23 - 1
2-25464473-TC-T c.2040del p.I681Sfs*24 Frameshift 17/23 - 1
2-25464474-T-C c.2039A>G p.K680R Missense 17/23 - 1
2-25464475-T-C c.2038A>G p.K680E Missense 17/23 - 1
2-25464476-C-A c.2037G>T p.G679= Synonymous 17/23 - 2
2-25464476-C-G c.2037G>C p.G679= Synonymous 17/23 - 1
2-25464476-C-T c.2037G>A p.G679= Synonymous 17/23 - 1
2-25464477-C-CT c.2035_2036insA p.G679Efs*34 Frameshift 17/23 - 1
2-25464475-TC-T c.2037del p.K680Rfs*25 Frameshift 17/23 - 2
2-25464481-G-A c.2032C>T p.Q678* Nonsense 17/23 - 4
2-25464485-CCG-ACA c.2026_2028delinsTGT p.R676C Missense 17/23 - 1
2-25464486-C-A c.2027G>T p.R676L Missense 17/23 - 1
2-25464487-G-A c.2026C>T p.R676W Missense 17/23 - 8
2-25464487-G-C c.2026C>G p.R676G Missense 17/23 - 1
2-25464489-A-G c.2024T>C p.V675A Missense 17/23 - 1
2-25464490-C-T c.2023G>A p.V675M Missense 17/23 - 3
2-25464493-T-C c.2020A>G p.M674V Missense 17/23 - 1
2-25464494-TGCCC-T c.2016_2019del p.G673Wfs*31 Frameshift 17/23 - 1
2-25464493-TGCCCACCGTGATG-T c.2007_2019del p.I670Wfs*31 Frameshift 17/23 - 1
2-25464495-GCCCACCGT-G c.2011_2018del p.T671Hfs*39 Frameshift 17/23 - 1
2-25464494-GC-G c.2018del p.G673Afs*32 Frameshift 17/23 - 1
2-25464499-ACCGTG-A c.2010_2014del p.T671Gfs*40 Frameshift 17/23 - 1
2-25464501-G-A c.2012C>T p.T671M Missense 17/23 - 2
2-25464502-T-G c.2011A>C p.T671P Missense 17/23 - 1
2-25464500-CGTGATGGA-C c.2005_2012del p.S669Gfs*41 Frameshift 17/23 - 1
2-25464505-T-TG c.2007dup p.I670Hfs*43 Frameshift 17/23 - 1
2-25464507-G-A c.2006C>T p.S669F Missense 17/23 - 3
2-25464507-G-C c.2006C>G p.S669C Missense 17/23 - 1
2-25464507-G-T c.2006C>A p.S669Y Missense 17/23 - 1
2-25464508-A-G c.2005T>C p.S669P Missense 17/23 - 1
2-25464508-A-AG c.2004dup p.S669Lfs*44 Frameshift 17/23 - 1
2-25464514-C-G c.1999G>C p.E667Q Missense 17/23 - 1
2-25464515-CA-C c.1998del p.C666Wfs*39 Frameshift 17/23 - 1
2-25464516-C-T c.1997G>A p.C666Y Missense 17/23 - 1
2-25464520-C-A c.1993G>T p.V665L Missense 17/23 - 5
2-25464520-C-G c.1993G>C p.V665L Missense 17/23 - 2
2-25464520-C-T c.1993G>A p.V665M Missense 17/23 - 1
2-25464522-T-C c.1991A>G p.E664G Missense 17/23 - 1
2-25464525-CGAGGCAATGT-C c.1979_1988del p.Y660Wfs*42 Frameshift 17/23 - 1
2-25464525-G-A c.1988C>T p.S663L Missense 17/23 - 4
2-25464525-G-C c.1988C>G p.S663W Missense 17/23 - 2
2-25464526-A-G c.1987T>C p.S663P Missense 17/23 - 1
2-25464529-C-T c.1984G>A p.A662T Missense 17/23 - 1
2-25464531-A-C c.1982T>G p.I661S Missense 17/23 - 1
2-25464531-A-G c.1982T>C p.I661T Missense 17/23 - 1
2-25464533-G-C c.1980C>G p.Y660* Nonsense 17/23 - 1
2-25464534-T-C c.1979A>G p.Y660C Missense 17/23 - 4
2-25464534-T-G c.1979A>C p.Y660S Missense 17/23 - 1
2-25464535-A-C c.1978T>G p.Y660D Missense 17/23 - 1
2-25464535-A-G c.1978T>C p.Y660H Missense 17/23 - 4
2-25464536-G-A c.1977C>T p.R659= Synonymous 17/23 - 1
2-25464536-G-C c.1977C>G p.R659= Synonymous 17/23 - 1
2-25464536-G-T c.1977C>A p.R659= Synonymous 17/23 - 1
2-25464537-C-T c.1976G>A p.R659H Missense 17/23 - 10
2-25464538-G-A c.1975C>T p.R659C Missense 17/23 - 1
2-25464538-G-C c.1975C>G p.R659G Missense 17/23 - 2
2-25464537-CG-C c.1975del p.R659Afs*46 Frameshift 17/23 - 2
2-25464540-T-A c.1973A>T p.D658V Missense 17/23 - 1
2-25464541-C-A c.1972G>T p.D658Y Missense 17/23 - 1
2-25464541-C-T c.1972G>A p.D658N Missense 17/23 - 1
2-25464540-T-TC c.1972dup p.D658Gfs*10 Frameshift 17/23 - 1
2-25464542-CAC-AAA c.1969_1971delinsTTT p.V657F Missense 17/23 - 1
2-25464544-C-A c.1969G>T p.V657L Missense 17/23 - 1
2-25464544-C-T c.1969G>A p.V657M Missense 17/23 - 8
2-25464546-CT-C c.1967del p.Q656Rfs*49 Frameshift 17/23 - 1
2-25464546-T-G c.1967A>C p.Q656P Missense 17/23 - 1
2-25464547-G-A c.1966C>T p.Q656* Nonsense 17/23 - 4
2-25464549-AT-GC c.1963_1964delinsGC p.I655A Missense 17/23 - 1
2-25464552-C-T c.1961G>A p.G654D Missense 17/23 - 4
2-25464554-C-A c.1959G>T p.L653F Missense 17/23 - 1
2-25464554-C-G c.1959G>C p.L653F Missense 17/23 - 1
2-25464555-A-C c.1958T>G p.L653W Missense 17/23 - 1
2-25464555-A-G c.1958T>C p.L653S Missense 17/23 - 1
2-25464556-A-C c.1957T>G p.L653V Missense 17/23 - 1
2-25464560-CT-C c.1952del p.K651Rfs*54 Frameshift 17/23 - 1
2-25464562-TTCAGCACCA-T c.1943_1951del p.L648_K651delinsQ MultiAAMissense 17/23 - 1
2-25464563-C-CA c.1949dup p.K651Efs*17 Frameshift 17/23 - 1
2-25464564-A-C c.1949T>G p.L650R Missense 17/23 - 1
2-25464564-A-G c.1949T>C p.L650P Missense 17/23 - 2
2-25464564-A-T c.1949T>A p.L650Q Missense 17/23 - 1
2-25464565-AG-A c.1948del p.L650* Frameshift 17/23 - 1
2-25464567-A-T c.1946T>A p.V649E Missense 17/23 - 1
2-25464568-C-G c.1945G>C p.V649L Missense 17/23 - 1
2-25464568-C-T c.1945G>A p.V649M Missense 17/23 - 1
2-25464570-A-G c.1943T>C p.L648P Missense 17/23 - 2
2-25464573-A-C c.1940T>G p.L647R Missense 17/23 - 2
2-25464573-A-G c.1940T>C p.L647P Missense 17/23 - 3
2-25464573-A-T c.1940T>A p.L647H Missense 17/23 - 2
2-25464574-GCC-G c.1937_1938del p.G646Afs*21 SpliceAcceptorDeletion 17/23 16/22 1
2-25464576-C-A c.1937G>T p.G646V Missense 17/23 - 2
2-25464576-C-T c.1937G>A p.G646E Missense 17/23 - 1
2-25464577-C-T c.1937-1G>A - IntronicSNV - 16/22 1
2-25464578-T-C c.1937-2A>G - IntronicSNV - 16/22 1
2-25464581-A-C c.1937-5T>G - IntronicSNV - 16/22 1
2-25465720-T-C c.1936+1047A>G - IntronicSNV - 16/22 1
2-25466762-C-T c.1936+5G>A - IntronicSNV - 16/22 1
2-25466766-C-T c.1936+1G>A - IntronicSNV - 16/22 3
2-25466767-C-A c.1936G>T p.G646W Missense 16/23 - 1
2-25466767-C-CA c.1935_1936insT p.G646Wfs*22 SpliceDonorInsertion 16/23 - 1
2-25466767-C-G c.1936G>C p.G646R Missense 16/23 - 1
2-25466767-C-T c.1936G>A p.G646R Missense 16/23 - 1
2-25466768-T-TG c.1934dup p.G646Rfs*22 Frameshift 16/23 - 1
2-25466770-T-C c.1933A>G p.T645A Missense 16/23 - 2
2-25466773-C-A c.1930G>T p.A644S Missense 16/23 - 1
2-25466773-C-T c.1930G>A p.A644T Missense 16/23 - 1
2-25466774-G-C c.1929C>G p.I643M Missense 16/23 - 1
2-25466775-A-G c.1928T>C p.I643T Missense 16/23 - 1
2-25466779-C-G c.1924G>C p.G642R Missense 16/23 - 1
2-25466781-T-A c.1922A>T p.D641V Missense 16/23 - 2
2-25466782-C-A c.1921G>T p.D641Y Missense 16/23 - 1
2-25466782-CAA-C c.1919_1920del p.F640* Frameshift 16/23 - 1
2-25466784-A-G c.1919T>C p.F640S Missense 16/23 - 1
2-25466782-CA-C c.1920del p.F640Lfs*11 Frameshift 16/23 - 1
2-25466783-A-C c.1920T>G p.F640L Missense 16/23 - 1
2-25466783-A-T c.1920T>A p.F640L Missense 16/23 - 1
2-25466785-A-G c.1918T>C p.F640L Missense 16/23 - 1
2-25466787-A-T c.1916T>A p.L639H Missense 16/23 - 1
2-25466787-GA-G c.1916del p.L639Pfs*12 Frameshift 16/23 - 1
2-25466788-G-A c.1915C>T p.L639F Missense 16/23 - 2
2-25466789-GA-G c.1914del p.L639Sfs*12 Frameshift 16/23 - 1
2-25466784-AAG-A c.1917_1918del p.F640* Frameshift 16/23 - 2
2-25466790-G-A c.1913C>T p.S638F Missense 16/23 - 3
2-25466790-G-C c.1913C>G p.S638C Missense 16/23 - 1
2-25466790-G-T c.1913C>A p.S638Y Missense 16/23 - 1
2-25466791-A-G c.1912T>C p.S638P Missense 16/23 - 2
2-25466793-A-C c.1910T>G p.L637R Missense 16/23 - 1
2-25466793-AG-GC c.1909_1910delinsGC p.L637A Missense 16/23 - 1
2-25466793-A-T c.1910T>A p.L637Q Missense 16/23 - 1
2-25466796-A-G c.1907T>C p.V636A Missense 16/23 - 1
2-25466796-A-T c.1907T>A p.V636E Missense 16/23 - 3
2-25466797-C-A c.1906G>T p.V636L Missense 16/23 - 6
2-25466797-C-G c.1906G>C p.V636L Missense 16/23 - 1
2-25466797-C-T c.1906G>A p.V636M Missense 16/23 - 6
2-25466799-C-A c.1904G>T p.R635L Missense 16/23 - 1
2-25466799-C-G c.1904G>C p.R635P Missense 16/23 - 3
2-25466799-C-T c.1904G>A p.R635Q Missense 16/23 - 15
2-25466800-G-A c.1903C>T p.R635W Missense 16/23 - 41
2-25466800-G-C c.1903C>G p.R635G Missense 16/23 - 8
2-25466802-A-C c.1901T>G p.I634S Missense 16/23 - 1
2-25466802-A-G c.1901T>C p.I634T Missense 16/23 - 3
2-25466803-T-A c.1900A>T p.I634F Missense 16/23 - 1
2-25466805-G-A c.1898C>T p.P633L Missense 16/23 - 3
2-25466805-G-T c.1898C>A p.P633H Missense 16/23 - 1
2-25466807-GC-G c.1896del p.K632Nfs*19 Frameshift 16/23 - 1
2-25466809-T-A c.1894A>T p.K632* Nonsense 16/23 - 1
2-25466808-TTCCTCTTCTCAGC-T c.1882_1894del p.A628Sfs*19 Frameshift 16/23 - 1
2-25466811-C-A c.1892G>T p.R631M Missense 16/23 - 2
2-25466815-T-A c.1888A>T p.K630* Nonsense 16/23 - 1
2-25466816-C-A c.1887G>T p.E629D Missense 16/23 - 1
2-25466816-C-G c.1887G>C p.E629D Missense 16/23 - 1
2-25466817-T-A c.1886A>T p.E629V Missense 16/23 - 1
2-25466822-TG-T c.1880del p.P627Qfs*24 Frameshift 16/23 - 2
2-25466827-C-A c.1876G>T p.V626F Missense 16/23 - 1
2-25466827-C-G c.1876G>C p.V626L Missense 16/23 - 1
2-25466828-AG-A c.1874del p.P625Lfs*26 Frameshift 16/23 - 2
2-25466830-G-A c.1873C>T p.P625S Missense 16/23 - 1
2-25466830-G-GT c.1872dup p.P625Tfs*5 Frameshift 16/23 - 1
2-25466831-GT-G c.1872del p.P625Lfs*26 Frameshift 16/23 - 2
2-25466833-GGGTAA-G c.1866_1870del p.Y623Tfs*5 Frameshift 16/23 - 1
2-25466834-G-C c.1869C>G p.Y623* Nonsense 16/23 - 1
2-25466834-G-T c.1869C>A p.Y623* Nonsense 16/23 - 1
2-25466835-T-C c.1868A>G p.Y623C Missense 16/23 - 1
2-25466835-TA-T c.1867del p.Y623Tfs*28 Frameshift 16/23 - 2
2-25466835-T-TA c.1867dup p.Y623Lfs*7 Frameshift 16/23 - 1
2-25466838-AC-A c.1864del p.V622Ffs*29 Frameshift 16/23 - 1
2-25466845-G-A c.1858C>T p.P620S Missense 16/23 - 1
2-25466851-C-T c.1852G>A p.D618N Missense 16/23 - 1
2-25466852-C-T c.1852-1G>A - IntronicSNV - 15/22 1
2-25467021-C-G c.1851+3G>C - IntronicSNV - 15/22 1
2-25467022-A-G c.1851+2T>C - IntronicSNV - 15/22 1
2-25467023-C-A c.1851+1G>T - IntronicSNV - 15/22 2
2-25467023-C-T c.1851+1G>A - IntronicSNV - 15/22 5
2-25467024-CAAATT-C c.1847_1851del p.E616Gfs*12 SpliceDonorDeletion 15/23 - 1
2-25467026-A-AT c.1848dup p.F617Ifs*2 Frameshift 15/23 - 1
2-25467029-C-A c.1846G>T p.E616* Nonsense 15/23 - 1
2-25467031-T-A c.1844A>T p.Q615L Missense 15/23 - 1
2-25467032-G-A c.1843C>T p.Q615* Nonsense 15/23 - 2
2-25467033-GGT-G c.1841_1842del p.D614Afs*4 Frameshift 15/23 - 1
2-25467036-G-C c.1839C>G p.H613Q Missense 15/23 - 1
2-25467036-G-T c.1839C>A p.H613Q Missense 15/23 - 1
2-25467040-T-C c.1835A>G p.N612S Missense 15/23 - 1
2-25467043-T-C c.1832A>G p.N611S Missense 15/23 - 1
2-25467044-TTAGCG-T c.1827_1831del p.F609Lfs*2 Frameshift 15/23 - 1
2-25467046-G-C c.1829C>G p.A610G Missense 15/23 - 1
2-25467047-GC-G c.1828del p.A610Lfs*41 Frameshift 15/23 - 1
2-25467048-CG-C c.1827del p.F609Lfs*42 Frameshift 15/23 - 1
2-25467054-AC-A c.1821del p.M607Ifs*44 Frameshift 15/23 - 1
2-25467059-G-A c.1816C>T p.Q606* Nonsense 15/23 - 3
2-25467060-G-T c.1815C>A p.L605= Synonymous 15/23 - 1
2-25467064-C-T c.1811G>A p.R604Q Missense 15/23 - 1
2-25467064-CG-C c.1810del p.R604Gfs*47 Frameshift 15/23 - 2
2-25467068-A-C c.1807T>G p.S603A Missense 15/23 - 1
2-25467068-A-G c.1807T>C p.S603P Missense 15/23 - 1
2-25467072-C-T c.1803G>A p.W601* Nonsense 15/23 - 5
2-25467073-C-T c.1802G>A p.W601* Nonsense 15/23 - 5
2-25467079-CTCT-C c.1794_1796del p.E599del InFrameDeletion 15/23 - 1
2-25467081-CT-C c.1794del p.E599Rfs*52 Frameshift 15/23 - 1
2-25467082-CG-GT c.1792_1793delinsAC p.R598T Missense 15/23 - 1
2-25467082-C-T c.1793G>A p.R598Q Missense 15/23 - 2
2-25467082-TC-T c.1793del p.R598Qfs*53 Frameshift 15/23 - 1
2-25467083-G-A c.1792C>T p.R598* Nonsense 15/23 - 17
2-25467084-CC-AT c.1790_1791delinsAT p.R597H Missense 15/23 - 3
2-25467085-C-T c.1790G>A p.R597Q Missense 15/23 - 2
2-25467088-CG-TA c.1786_1787delinsTA p.R596* Nonsense 15/23 - 1
2-25467089-G-A c.1786C>T p.R596W Missense 15/23 - 1
2-25467091-A-G c.1784T>C p.L595P Missense 15/23 - 1
2-25467094-CA-C c.1781del p.L594Rfs*57 Frameshift 15/23 - 1
2-25467095-G-GCA c.1779_1780insTG p.L594Cfs*58 Frameshift 15/23 - 1
2-25467098-C-G c.1777G>C p.G593R Missense 15/23 - 1
2-25467098-C-T c.1777G>A p.G593R Missense 15/23 - 1
2-25467099-G-C c.1776C>G p.Y592* Nonsense 15/23 - 2
2-25467101-AG-A c.1773del p.Y592Tfs*59 Frameshift 15/23 - 1
2-25467106-ACCCTTGT-A c.1763_1769del p.H588Lfs*61 Frameshift 15/23 - 1
2-25467106-C-A c.1769G>T p.G590V Missense 15/23 - 1
2-25467106-C-T c.1769G>A p.G590D Missense 15/23 - 1
2-25467105-AC-A c.1769del p.G590Vfs*61 Frameshift 15/23 - 1
2-25467108-C-A c.1767G>T p.K589N Missense 15/23 - 1
2-25467108-C-G c.1767G>C p.K589N Missense 15/23 - 1
2-25467113-GC-G c.1761del p.H588Tfs*63 Frameshift 15/23 - 1
2-25467117-G-T c.1758C>A p.C586* Nonsense 15/23 - 3
2-25467118-C-T c.1757G>A p.C586Y Missense 15/23 - 1
2-25467119-A-G c.1756T>C p.C586R Missense 15/23 - 1
2-25467119-A-T c.1756T>A p.C586S Missense 15/23 - 1
2-25467119-A-AC c.1755dup p.C586Vfs*26 Frameshift 15/23 - 1
2-25467120-AC-A c.1755del p.M585Ifs*66 Frameshift 15/23 - 1
2-25467121-ATG-A c.1752_1753del p.M585Vfs*26 Frameshift 15/23 - 1
2-25467123-G-C c.1752C>G p.Y584* Nonsense 15/23 - 1
2-25467123-G-T c.1752C>A p.Y584* Nonsense 15/23 - 2
2-25467126-G-T c.1749C>A p.C583* Nonsense 15/23 - 2
2-25467127-C-T c.1748G>A p.C583Y Missense 15/23 - 5
2-25467132-C-A c.1743G>T p.W581C Missense 15/23 - 7
2-25467132-C-G c.1743G>C p.W581C Missense 15/23 - 6
2-25467132-C-T c.1743G>A p.W581* Nonsense 15/23 - 2
2-25467133-C-T c.1742G>A p.W581* Nonsense 15/23 - 2
2-25467134-A-C c.1741T>G p.W581G Missense 15/23 - 2
2-25467134-A-G c.1741T>C p.W581R Missense 15/23 - 2
2-25467134-A-T c.1741T>A p.W581R Missense 15/23 - 4
2-25467134-CA-C c.1741del p.W581Gfs*70 Frameshift 15/23 - 1
2-25467137-G-A c.1738C>T p.P580S Missense 15/23 - 1
2-25467134-AG-A c.1740del p.W581Gfs*70 Frameshift 15/23 - 2
2-25467139-T-C c.1736A>G p.D579G Missense 15/23 - 1
2-25467142-T-C c.1733A>G p.E578G Missense 15/23 - 1
2-25467143-C-A c.1732G>T p.E578* Nonsense 15/23 - 2
2-25467142-TCCTTAATGGCTGCCTGGGCAGCCCCCGGCCCCA-T c.1700_1732del p.V567_K577del InFrameDeletion 15/23 - 1
2-25467146-T-A c.1729A>T p.K577* Nonsense 15/23 - 2
2-25467146-TA-T c.1728del p.K577Rfs*74 Frameshift 15/23 - 1
2-25467149-T-A c.1726A>T p.I576F Missense 15/23 - 1
2-25467150-TGGC-T c.1723_1725del p.A575del InFrameDeletion 15/23 - 1
2-25467151-G-A c.1724C>T p.A575V Missense 15/23 - 1
2-25467152-C-G c.1723G>C p.A575P Missense 15/23 - 2
2-25467149-TGGCTGCCTG-T c.1717_1725del p.Q573_A575del InFrameDeletion 15/23 - 1
2-25467154-TG-T c.1721del p.A574Efs*77 Frameshift 15/23 - 1
2-25467153-TGCCTGG-T c.1716_1721del p.Q573_A574del InFrameDeletion 15/23 - 1
2-25467153-TGCCTGGGCA-T c.1713_1721del p.Q573_A575del InFrameDeletion 15/23 - 1
2-25467157-CT-C c.1718del p.Q573Rfs*78 Frameshift 15/23 - 1
2-25467158-G-A c.1717C>T p.Q573* Nonsense 15/23 - 4
2-25467157-TGGGCAGCCCCCG-T c.1706_1717del p.P569_A572del InFrameDeletion 15/23 - 1
2-25467159-GGGC-G c.1714_1716del p.A572del InFrameDeletion 15/23 - 1
2-25467160-G-C c.1715C>G p.A572G Missense 15/23 - 1
2-25467164-C-G c.1711G>C p.A571P Missense 15/23 - 2
2-25467164-C-T c.1711G>A p.A571T Missense 15/23 - 1
2-25467166-C-T c.1709G>A p.G570E Missense 15/23 - 1
2-25467167-C-A c.1708G>T p.G570W Missense 15/23 - 1
2-25467163-GC-G c.1711del p.A571Lfs*80 Frameshift 15/23 - 3
2-25467169-G-A c.1706C>T p.P569L Missense 15/23 - 1
2-25467172-CCCA-C c.1700_1702del p.V567del InFrameDeletion 15/23 - 3
2-25467177-CCAA-C c.1696_1698del p.L566del InFrameDeletion 15/23 - 1
2-25467182-G-A c.1693C>T p.L565F Missense 15/23 - 1
2-25467188-C-T c.1687G>A p.V563M Missense 15/23 - 6
2-25467190-ACAC-A c.1683_1685del p.E561_C562delinsD MultiAAMissense 15/23 - 1
2-25467190-C-A c.1685G>T p.C562F Missense 15/23 - 1
2-25467190-C-T c.1685G>A p.C562Y Missense 15/23 - 4
2-25467190-C-G c.1685G>C p.C562S Missense 15/23 - 1
2-25467191-A-G c.1684T>C p.C562R Missense 15/23 - 1
2-25467191-A-T c.1684T>A p.C562S Missense 15/23 - 1
2-25467194-C-A c.1681G>T p.E561* Nonsense 15/23 - 3
2-25467193-TCCACGCAAAAG-T c.1671_1681del p.C557* Frameshift 15/23 - 1
2-25467195-C-G c.1680G>C p.V560= Synonymous 15/23 - 1
2-25467197-C-A c.1678G>T p.V560L Missense 15/23 - 1
2-25467197-C-G c.1678G>C p.V560L Missense 15/23 - 1
2-25467197-C-T c.1678G>A p.V560M Missense 15/23 - 1
2-25467199-C-A c.1676G>T p.C559F Missense 15/23 - 1
2-25467199-C-T c.1676G>A p.C559Y Missense 15/23 - 1
2-25467200-A-G c.1675T>C p.C559R Missense 15/23 - 1
2-25467199-CA-C c.1675del p.C559Afs*92 Frameshift 15/23 - 1
2-25467204-G-T c.1671C>A p.C557* Nonsense 15/23 - 1
2-25467205-C-A c.1670G>T p.C557F Missense 15/23 - 1
2-25467205-C-T c.1670G>A p.C557Y Missense 15/23 - 2
2-25467206-A-C c.1669T>G p.C557G Missense 15/23 - 1
2-25467207-C-A c.1668G>T p.R556S Missense 15/23 - 4
2-25467207-C-G c.1668G>C p.R556S Missense 15/23 - 3
2-25467407-A-C c.1667+2T>G - IntronicSNV - 14/22 1
2-25467407-A-G c.1667+2T>C - IntronicSNV - 14/22 1
2-25467407-A-T c.1667+2T>A - IntronicSNV - 14/22 1
2-25467408-C-A c.1667+1G>T - IntronicSNV - 14/22 1
2-25467408-C-G c.1667+1G>C - IntronicSNV - 14/22 2
2-25467408-C-T c.1667+1G>A - IntronicSNV - 14/22 7
2-25467409-C-A c.1667G>T p.R556M Missense 14/23 - 2
2-25467409-C-G c.1667G>C p.R556T Missense 14/23 - 1
2-25467410-T-C c.1666A>G p.R556G Missense 14/23 - 1
2-25467412-C-G c.1664G>C p.C555S Missense 14/23 - 1
2-25467412-C-T c.1664G>A p.C555Y Missense 14/23 - 1
2-25467415-C-T c.1661G>A p.C554Y Missense 14/23 - 2
2-25467415-GC-G c.1661del p.C554Sfs*97 Frameshift 14/23 - 1
2-25467416-A-C c.1660T>G p.C554G Missense 14/23 - 1
2-25467421-T-C c.1655A>G p.N552S Missense 14/23 - 2
2-25467425-T-C c.1651A>G p.N551D Missense 14/23 - 1
2-25467426-TC-GT c.1649_1650delinsAC p.G550D Missense 14/23 - 1
2-25467428-C-A c.1648G>T p.G550* Nonsense 14/23 - 2
2-25467428-C-G c.1648G>C p.G550R Missense 14/23 - 3
2-25467428-C-T c.1648G>A p.G550R Missense 14/23 - 6
2-25467429-G-A c.1647C>T p.C549= Synonymous 14/23 - 1
2-25467429-G-T c.1647C>A p.C549* Nonsense 14/23 - 1
2-25467431-A-G c.1645T>C p.C549R Missense 14/23 - 2
2-25467432-C-A c.1644G>T p.M548I Missense 14/23 - 1
2-25467432-C-G c.1644G>C p.M548I Missense 14/23 - 1
2-25467432-C-T c.1644G>A p.M548I Missense 14/23 - 1
2-25467433-A-C c.1643T>G p.M548R Missense 14/23 - 1
2-25467433-A-G c.1643T>C p.M548T Missense 14/23 - 5
2-25467433-A-T c.1643T>A p.M548K Missense 14/23 - 2
2-25467433-AT-CA c.1642_1643delinsTG p.M548W Missense 14/23 - 1
2-25467433-CAT-C c.1642_1643del p.M548Vfs*29 Frameshift 14/23 - 1
2-25467436-A-C c.1640T>G p.L547R Missense 14/23 - 2
2-25467436-A-T c.1640T>A p.L547H Missense 14/23 - 2
2-25467437-G-A c.1639C>T p.L547F Missense 14/23 - 1
2-25467439-AC-A c.1636del p.V546Cfs*105 Frameshift 14/23 - 2
2-25467442-CT-C c.1634del p.E545Gfs*106 Frameshift 14/23 - 1
2-25467443-C-A c.1633G>T p.E545* Nonsense 14/23 - 1
2-25467443-C-T c.1633G>A p.E545K Missense 14/23 - 1
2-25467448-C-A c.1628G>T p.G543V Missense 14/23 - 2
2-25467448-C-G c.1628G>C p.G543A Missense 14/23 - 9
2-25467448-C-T c.1628G>A p.G543D Missense 14/23 - 3
2-25467449-C-A c.1627G>T p.G543C Missense 14/23 - 19
2-25467449-C-T c.1627G>A p.G543S Missense 14/23 - 1
2-25467447-GC-G c.1628del p.G543Afs*108 Frameshift 14/23 - 1
2-25467447-G-GC c.1628dup p.R544Pfs*2 Frameshift 14/23 - 1
2-25467452-CCACAGCAGATGG-C c.1613_1624del p.T538_G542delinsR MultiAAMissense 14/23 - 1
2-25467456-G-T c.1620C>A p.C540* Nonsense 14/23 - 1
2-25467457-C-T c.1619G>A p.C540Y Missense 14/23 - 1
2-25467459-AG-A c.1617del p.C540Afs*111 Frameshift 14/23 - 1
2-25467460-A-T c.1616T>A p.I539N Missense 14/23 - 1
2-25467465-G-A c.1611C>T p.C537= Synonymous 14/23 - 1
2-25467465-G-C c.1611C>G p.C537W Missense 14/23 - 1
2-25467465-G-T c.1611C>A p.C537* Nonsense 14/23 - 1
2-25467466-C-T c.1610G>A p.C537Y Missense 14/23 - 3
2-25467468-G-C c.1608C>G p.Y536* Nonsense 14/23 - 2
2-25467468-G-T c.1608C>A p.Y536* Nonsense 14/23 - 1
2-25467469-T-C c.1607A>G p.Y536C Missense 14/23 - 1
2-25467470-AG-A c.1605del p.Y536Tfs*115 Frameshift 14/23 - 1
2-25467476-G-A c.1600C>T p.Q534* Nonsense 14/23 - 3
2-25467477-G-C c.1599C>G p.Y533* Nonsense 14/23 - 1
2-25467477-G-T c.1599C>A p.Y533* Nonsense 14/23 - 1
2-25467478-GT-G c.1598del p.Y533Sfs*118 Frameshift 14/23 - 1
2-25467478-T-C c.1598A>G p.Y533C Missense 14/23 - 6
2-25467479-A-G c.1597T>C p.Y533H Missense 14/23 - 1
2-25467482-C-T c.1594G>A p.G532S Missense 14/23 - 5
2-25467484-T-C c.1592A>G p.D531G Missense 14/23 - 2
2-25467484-TC-CG c.1591_1592delinsCG p.D531R Missense 14/23 - 1
2-25467485-C-T c.1591G>A p.D531N Missense 14/23 - 3
2-25467486-CG-C c.1590del p.D530Efs*121 Frameshift 14/23 - 1
2-25467490-T-A c.1586A>T p.D529V Missense 14/23 - 1
2-25467490-T-G c.1586A>C p.D529A Missense 14/23 - 3
2-25467481-CCGT-C c.1592_1594del p.D531del InFrameDeletion 14/23 - 1
2-25467491-C-T c.1585G>A p.D529N Missense 14/23 - 3
2-25467492-G-C c.1584C>G p.Y528* Nonsense 14/23 - 5
2-25467492-G-T c.1584C>A p.Y528* Nonsense 14/23 - 5
2-25467494-A-C c.1582T>G p.Y528D Missense 14/23 - 1
2-25467494-A-AC c.1581dup p.Y528Vfs*18 Frameshift 14/23 - 1
2-25467495-ACTGG-A c.1578_1581del p.Q527Tfs*123 Frameshift 14/23 - 1
2-25467495-C-CT c.1580dup p.Y528Vfs*18 Frameshift 14/23 - 1
2-25467496-T-G c.1580A>C p.Q527P Missense 14/23 - 1
2-25467497-G-A c.1579C>T p.Q527* Nonsense 14/23 - 4
2-25467496-TG-T c.1579del p.Q527Sfs*124 Frameshift 14/23 - 1
2-25467498-G-C c.1578C>G p.Y526* Nonsense 14/23 - 2
2-25467498-G-T c.1578C>A p.Y526* Nonsense 14/23 - 2
2-25467498-GTA-CTC c.1576_1578delinsGAG p.Y526E Missense 14/23 - 1
2-25467500-A-C c.1576T>G p.Y526D Missense 14/23 - 1
2-25467502-G-A c.1574C>T p.A525V Missense 14/23 - 1
2-25467503-C-T c.1573G>A p.A525T Missense 14/23 - 1
2-25467507-AC-A c.1569del p.E523Dfs*128 Frameshift 14/23 - 1
2-25467509-C-A c.1567G>T p.E523* Nonsense 14/23 - 2
2-25467511-CAGAAAGCA-C c.1558_1565del p.C520Gfs*23 Frameshift 14/23 - 1
2-25467518-CA-C c.1558del p.C520Afs*131 Frameshift 14/23 - 2
2-25468120-A-C c.1554+2T>G - IntronicSNV - 13/22 1
2-25468121-C-A c.1554+1G>T - IntronicSNV - 13/22 1
2-25468121-C-T c.1554+1G>A - IntronicSNV - 13/22 6
2-25468125-TG-T c.1551del p.C517* Frameshift 13/23 - 1
2-25468127-A-G c.1549T>C p.C517R Missense 13/23 - 1
2-25468130-T-TA c.1545_1546insT p.N516* Nonsense 13/23 - 1
2-25468128-GT-G c.1547del p.N516Tfs*135 Frameshift 13/23 - 1
2-25468133-G-A c.1543C>T p.Q515* Nonsense 13/23 - 3
2-25468134-G-T c.1542C>A p.C514* Nonsense 13/23 - 1
2-25468134-G-GC c.1541dup p.C514Wfs*32 Frameshift 13/23 - 1
2-25468136-CA-C c.1540del p.C514Afs*137 Frameshift 13/23 - 3
2-25468138-A-AT c.1537dup p.M513Nfs*33 Frameshift 13/23 - 1
2-25468141-TCCTCCAACGAAGAG-T c.1522_1535del p.L508Nfs*33 Frameshift 13/23 - 1
2-25468141-TCCTCCAACGA-T c.1526_1535del p.F509* Frameshift 13/23 - 1
2-25468141-TCCTCCA-T c.1530_1535del p.G511_G512del InFrameDeletion 13/23 - 1
2-25468140-TCCTC-T c.1532_1535del p.G511Efs*139 Frameshift 13/23 - 1
2-25468144-C-T c.1532G>A p.G511E Missense 13/23 - 1
2-25468145-CA-C c.1530del p.G511Efs*140 Frameshift 13/23 - 1
2-25468148-C-T c.1528G>A p.V510I Missense 13/23 - 2
2-25468131-T-TTGGCACATTCCTCCAACGAG c.1544_1545insCTCGTTGGAGGAATGTGCCA p.Q515Hfs*143 Frameshift 13/23 - 1
2-25468150-A-ATT c.1525_1526insAA p.F509* Nonsense 13/23 - 1
2-25468150-AAG-A c.1524_1525del p.F509Rfs*36 Frameshift 13/23 - 1
2-25468153-A-G c.1523T>C p.L508P Missense 13/23 - 1
2-25468153-AG-A c.1522del p.L508Sfs*143 Frameshift 13/23 - 1
2-25468159-T-C c.1517A>G p.H506R Missense 13/23 - 2
2-25468163-C-A c.1513G>T p.E505* Nonsense 13/23 - 1
2-25468163-TCCAGGGTAACATTGAGGCTCCCACA-T c.1489_1513del p.C497Nfs*146 Frameshift 13/23 - 1
2-25468168-GGTAA-G c.1505_1508del p.V502Afs*148 Frameshift 13/23 - 1
2-25468168-G-GT c.1507dup p.T503Nfs*43 Frameshift 13/23 - 2
2-25468169-GT-G c.1507del p.T503Pfs*148 Frameshift 13/23 - 1
2-25468169-TA-T c.1506del p.T503Pfs*148 Frameshift 13/23 - 1
2-25468172-C-CA c.1503dup p.V502Cfs*44 Frameshift 13/23 - 1
2-25468174-T-C c.1502A>G p.N501S Missense 13/23 - 2
2-25468173-AT-A c.1502del p.N501Mfs*150 Frameshift 13/23 - 1
2-25468183-C-A c.1493G>T p.G498V Missense 13/23 - 1
2-25468181-TC-T c.1494del p.S499Afs*152 Frameshift 13/23 - 1
2-25468186-C-T c.1490G>A p.C497Y Missense 13/23 - 5
2-25468187-A-C c.1489T>G p.C497G Missense 13/23 - 1
2-25468186-CAGGAG-C c.1485_1489del p.I495Mfs*49 Frameshift 13/23 - 1
2-25468194-G-T c.1482C>A p.C494* Nonsense 13/23 - 1
2-25468195-C-A c.1481G>T p.C494F Missense 13/23 - 1
2-25468195-C-T c.1481G>A p.C494Y Missense 13/23 - 1
2-25468195-C-G c.1481G>C p.C494S Missense 13/23 - 1
2-25468196-A-C c.1480T>G p.C494G Missense 13/23 - 1
2-25468196-A-T c.1480T>A p.C494S Missense 13/23 - 2
2-25468199-AT-A c.1477del p.I493Sfs*158 Frameshift 13/23 - 1
2-25468200-TG-T c.1476del p.D492Efs*159 Frameshift 13/23 - 1
2-25468888-C-A c.1474+1G>T - IntronicSNV - 12/22 1
2-25468888-C-G c.1474+1G>C - IntronicSNV - 12/22 1
2-25468888-C-T c.1474+1G>A - IntronicSNV - 12/22 5
2-25468887-AC-A c.1474+1del - IntronicDeletion 12/23 - 1
2-25468890-C-A c.1473G>T p.E491D Missense 12/23 - 1
2-25468890-C-G c.1473G>C p.E491D Missense 12/23 - 1
2-25468894-A-AT c.1468dup p.I490Nfs*2 Frameshift 12/23 - 1
2-25468896-GT-G c.1466del p.N489Tfs*162 Frameshift 12/23 - 1
2-25468898-TC-T c.1464del p.N489Tfs*162 Frameshift 12/23 - 1
2-25468900-C-T c.1463G>A p.R488Q Missense 12/23 - 2
2-25468901-G-A c.1462C>T p.R488W Missense 12/23 - 2
2-25468902-G-A c.1461C>T p.C487= Synonymous 12/23 - 1
2-25468902-G-T c.1461C>A p.C487* Nonsense 12/23 - 1
2-25468903-C-T c.1460G>A p.C487Y Missense 12/23 - 1
2-25468903-C-G c.1460G>C p.C487S Missense 12/23 - 1
2-25468904-A-T c.1459T>A p.C487S Missense 12/23 - 1
2-25468908-C-A c.1455G>T p.Q485H Missense 12/23 - 1
2-25468908-C-G c.1455G>C p.Q485H Missense 12/23 - 1
2-25468910-G-A c.1453C>T p.Q485* Nonsense 12/23 - 3
2-25468912-CG-TA c.1450_1451delinsTA p.R484* Nonsense 12/23 - 1
2-25468916-ACCTCGTACACC-A c.1437_1447del p.V480Afs*8 Frameshift 12/23 - 1
2-25468924-A-C c.1439T>G p.V480G Missense 12/23 - 1
2-25468929-GCCGC-G c.1431_1434del p.E477Dfs*173 SpliceAcceptorDeletion 12/23 - 1
2-25468928-GC-G c.1434del p.L479Wfs*172 Frameshift 12/23 - 1
2-25468931-G-A c.1432C>T p.R478W Missense 12/23 - 1
2-25468932-GC-G c.1431del p.E477Dfs*174 Frameshift 12/23 - 1
2-25469027-A-G c.1429+2T>C - IntronicSNV - 11/22 1
2-25469028-C-A c.1429+1G>T - IntronicSNV - 11/22 2
2-25469028-C-T c.1429+1G>A - IntronicSNV - 11/22 5
2-25469029-C-A c.1429G>T p.E477* Nonsense 11/23 - 2
2-25469029-C-CA c.1428_1429insT p.E477* SpliceDonorInsertion 11/23 - 1
2-25469029-C-CG c.1428_1429insC p.E477Rfs*15 SpliceDonorInsertion 11/23 - 1
2-25469029-C-T c.1429G>A p.E477K Missense 11/23 - 4
2-25469029-C-CT c.1428dup p.E477Rfs*15 SpliceDonorInsertion 11/23 - 1
2-25469032-TTG-T c.1424_1425del p.T475Kfs*16 Frameshift 11/23 - 1
2-25469037-C-T c.1421G>A p.R474H Missense 11/23 - 2
2-25469044-TC-T c.1414del p.D472Mfs*179 Frameshift 11/23 - 1
2-25469045-AAT-TTA c.1411_1413delinsTAA p.I471* Nonsense 11/23 - 1
2-25469049-AATCTCCT-A c.1403_1409del p.K468Ifs*181 Frameshift 11/23 - 1
2-25469052-T-A c.1406A>T p.E469V Missense 11/23 - 1
2-25469053-C-A c.1405G>T p.E469* Nonsense 11/23 - 2
2-25469053-C-G c.1405G>C p.E469Q Missense 11/23 - 1
2-25469055-T-C c.1403A>G p.K468R Missense 11/23 - 2
2-25469058-AC-A c.1399del p.V467Sfs*184 Frameshift 11/23 - 1
2-25469070-T-A c.1388A>T p.E463V Missense 11/23 - 1
2-25469071-C-A c.1387G>T p.E463* Nonsense 11/23 - 1
2-25469071-TCCGCTGTGCTC-T c.1377_1387del p.S460Efs*9 Frameshift 11/23 - 1
2-25469070-T-TC c.1387dup p.E463Gfs*10 Frameshift 11/23 - 1
2-25469073-G-A c.1385C>T p.A462V Missense 11/23 - 3
2-25469080-CT-C c.1378del p.S460Afs*191 Frameshift 11/23 - 1
2-25469080-T-C c.1378A>G p.S460G Missense 11/23 - 1
2-25469082-T-A c.1376A>T p.K459M Missense 11/23 - 1
2-25469083-TC-T c.1374del p.K459Rfs*192 Frameshift 11/23 - 2
2-25469085-C-T c.1373G>A p.R458Q Missense 11/23 - 1
2-25469086-G-A c.1372C>T p.R458W Missense 11/23 - 1
2-25469085-CG-C c.1372del p.R458Gfs*193 Frameshift 11/23 - 1
2-25469090-C-CT c.1367dup p.P457Afs*16 Frameshift 11/23 - 1
2-25469095-T-A c.1363A>T p.K455* Nonsense 11/23 - 1
2-25469104-G-A c.1354C>T p.P452S Missense 11/23 - 1
2-25469110-G-A c.1348C>T p.P450S Missense 11/23 - 10
2-25469114-G-C c.1344C>G p.Y448* Nonsense 11/23 - 2
2-25469114-G-T c.1344C>A p.Y448* Nonsense 11/23 - 2
2-25469114-G-GT c.1343dup p.Y448* Nonsense 11/23 - 1
2-25469114-G-GTT c.1343_1344insAA p.Y448* Nonsense 11/23 - 1
2-25469122-CTGCCTCAGGTTCCACCCACA-C c.1316_1335del p.M439Sfs*27 Frameshift 11/23 - 1
2-25469123-TGCCTCA-T c.1329_1334del p.E444_A445del InFrameDeletion 11/23 - 1
2-25469125-GCCTCAGGT-G c.1326_1333del p.E442Dfs*28 Frameshift 11/23 - 1
2-25469138-C-T c.1320G>A p.W440* Nonsense 11/23 - 4
2-25469136-AC-A c.1321del p.V441Wfs*210 Frameshift 11/23 - 1
2-25469139-C-T c.1319G>A p.W440* Nonsense 11/23 - 4
2-25469148-CG-C c.1310del p.T437Rfs*214 Frameshift 11/23 - 1
2-25469148-G-A c.1310C>T p.T437M Missense 11/23 - 2
2-25469148-G-C c.1310C>G p.T437R Missense 11/23 - 1
2-25469150-G-C c.1308C>G p.Y436* Nonsense 11/23 - 2
2-25469150-G-T c.1308C>A p.Y436* Nonsense 11/23 - 2
2-25469154-A-AC c.1303dup p.V435Gfs*10 Frameshift 11/23 - 1
2-25469162-G-C c.1296C>G p.Y432* Nonsense 11/23 - 2
2-25469162-G-T c.1296C>A p.Y432* Nonsense 11/23 - 1
2-25469163-T-C c.1295A>G p.Y432C Missense 11/23 - 1
2-25469167-G-A c.1291C>T p.P431S Missense 11/23 - 1
2-25469168-A-C c.1290T>G p.N430K Missense 11/23 - 1
2-25469168-A-T c.1290T>A p.N430K Missense 11/23 - 1
2-25469173-T-A c.1285A>T p.K429* Nonsense 11/23 - 1
2-25469176-C-T c.1282G>A p.E428K Missense 11/23 - 1
2-25469487-A-G c.1279+2T>C - IntronicSNV - 10/22 1
2-25469488-C-G c.1279+1G>C - IntronicSNV - 10/22 1
2-25469488-C-T c.1279+1G>A - IntronicSNV - 10/22 3
2-25469491-T-A c.1277A>T p.E426V Missense 10/23 - 1
2-25469492-C-A c.1276G>T p.E426* Nonsense 10/23 - 1
2-25469492-C-G c.1276G>C p.E426Q Missense 10/23 - 1
2-25469495-G-T c.1273C>A p.P425T Missense 10/23 - 1
2-25469502-C-A c.1266G>T p.L422= Synonymous 10/23 - 1
2-25469502-C-G c.1266G>C p.L422= Synonymous 10/23 - 1
2-25469502-C-T c.1266G>A p.L422= Synonymous 10/23 - 7
2-25469504-G-A c.1264C>T p.L422= Synonymous 10/23 - 1
2-25469503-A-G c.1265T>C p.L422P Missense 10/23 - 1
2-25469510-T-A c.1258A>T p.K420* Nonsense 10/23 - 1
2-25469510-TAGGGCCAG-T c.1250_1257del p.S417* Frameshift 10/23 - 1
2-25469515-C-T c.1253G>A p.G418D Missense 10/23 - 1
2-25469522-G-A c.1246C>T p.P416S Missense 10/23 - 1
2-25469524-TG-T c.1243del p.Q415Sfs*236 Frameshift 10/23 - 1
2-25469527-A-G c.1241T>C p.F414S Missense 10/23 - 2
2-25469528-A-C c.1240T>G p.F414V Missense 10/23 - 1
2-25469529-AG-A c.1239del p.F414Sfs*237 Frameshift 10/23 - 1
2-25469530-C-A c.1238G>T p.G413V Missense 10/23 - 1
2-25469530-C-G c.1238G>C p.G413A Missense 10/23 - 1
2-25469530-C-T c.1238G>A p.G413D Missense 10/23 - 1
2-25469531-C-T c.1237G>A p.G413S Missense 10/23 - 1
2-25469534-C-A c.1234G>T p.G412W Missense 10/23 - 1
2-25469529-GC-G c.1238del p.G413Afs*238 Frameshift 10/23 - 2
2-25469529-G-GC c.1238dup p.F414Lfs*7 Frameshift 10/23 - 3
2-25469536-A-G c.1232T>C p.L411P Missense 10/23 - 2
2-25469539-G-T c.1229C>A p.A410D Missense 10/23 - 1
2-25469540-C-T c.1228G>A p.A410T Missense 10/23 - 2
2-25469541-C-A c.1227G>T p.W409C Missense 10/23 - 1
2-25469541-C-T c.1227G>A p.W409* Nonsense 10/23 - 1
2-25469542-C-T c.1226G>A p.W409* Nonsense 10/23 - 1
2-25469543-A-G c.1225T>C p.W409R Missense 10/23 - 1
2-25469543-A-T c.1225T>A p.W409R Missense 10/23 - 1
2-25469546-C-G c.1222G>C p.E408Q Missense 10/23 - 1
2-25469548-A-C c.1220T>G p.I407S Missense 10/23 - 2
2-25469548-A-G c.1220T>C p.I407T Missense 10/23 - 2
2-25469552-TG-T c.1215del p.M406* Frameshift 10/23 - 1
2-25469555-G-A c.1213C>T p.P405S Missense 10/23 - 1
2-25469559-GT-G c.1208del p.N403Tfs*4 Frameshift 10/23 - 1
2-25469563-T-C c.1205A>G p.Q402R Missense 10/23 - 1
2-25469564-G-A c.1204C>T p.Q402* Nonsense 10/23 - 4
2-25469567-C-A c.1201G>T p.V401L Missense 10/23 - 1
2-25469567-C-G c.1201G>C p.V401L Missense 10/23 - 1
2-25469570-C-A c.1198G>T p.E400* Nonsense 10/23 - 1
2-25469573-C-T c.1195G>A p.V399M Missense 10/23 - 1
2-25469579-T-A c.1189A>T p.K397* Nonsense 10/23 - 1
2-25469581-G-A c.1187C>T p.A396V Missense 10/23 - 1
2-25469581-G-T c.1187C>A p.A396D Missense 10/23 - 1
2-25469587-T-C c.1181A>G p.D394G Missense 10/23 - 1
2-25469588-C-T c.1180G>A p.D394N Missense 10/23 - 2
2-25469590-CT-GC c.1177_1178delinsGC p.S393A Missense 10/23 - 1
2-25469591-T-C c.1177A>G p.S393G Missense 10/23 - 1
2-25469592-C-A c.1176G>T p.E392D Missense 10/23 - 1
2-25469592-C-G c.1176G>C p.E392D Missense 10/23 - 1
2-25469594-C-A c.1174G>T p.E392* Nonsense 10/23 - 2
2-25469595-A-C c.1173T>G p.D391E Missense 10/23 - 1
2-25469595-A-T c.1173T>A p.D391E Missense 10/23 - 1
2-25469597-C-T c.1171G>A p.D391N Missense 10/23 - 1
2-25469599-CT-GC c.1168_1169delinsGC p.S390A Missense 10/23 - 1
2-25469600-T-TGG c.1167_1168insCC p.S390Pfs*18 Frameshift 10/23 - 1
2-25469603-C-T c.1165G>A p.D389N Missense 10/23 - 1
2-25469605-GT-G c.1163del p.H388Pfs*19 Frameshift 10/23 - 1
2-25469607-G-T c.1161C>A p.C387* Nonsense 10/23 - 1
2-25469612-C-T c.1156G>A p.V386M Missense 10/23 - 1
2-25469611-A-AC c.1156dup p.V386Gfs*7 Frameshift 10/23 - 1
2-25469613-C-T c.1155G>A p.P385= Synonymous 10/23 - 1
2-25469614-G-A c.1154C>T p.P385L Missense 10/23 - 6
2-25469613-C-CG c.1154dup p.V386Gfs*7 Frameshift 10/23 - 1
2-25469613-CG-C c.1154del p.P385Rfs*22 Frameshift 10/23 - 4
2-25469615-GGAACA-G c.1148_1152del p.L383Pfs*8 Frameshift 10/23 - 1
2-25469618-A-T c.1150T>A p.F384I Missense 10/23 - 1
2-25469624-TC-T c.1143del p.K382Sfs*25 Frameshift 10/23 - 1
2-25469629-G-A c.1139C>T p.A380V Missense 10/23 - 1
2-25469630-C-T c.1138G>A p.A380T Missense 10/23 - 2
2-25469632-C-A c.1136G>T p.R379L Missense 10/23 - 1
2-25469632-C-G c.1136G>C p.R379P Missense 10/23 - 1
2-25469633-G-A c.1135C>T p.R379C Missense 10/23 - 3
2-25469633-G-T c.1135C>A p.R379S Missense 10/23 - 1
2-25469635-C-T c.1133G>A p.S378N Missense 10/23 - 2
2-25469641-G-A c.1127C>T p.A376V Missense 10/23 - 2
2-25469641-G-T c.1127C>A p.A376D Missense 10/23 - 1
2-25469642-C-G c.1126G>C p.A376P Missense 10/23 - 1
2-25469913-C-T c.1122+7G>A - IntronicSNV - 9/22 1
2-25469918-A-C c.1122+2T>G - IntronicSNV - 9/22 1
2-25469919-C-CAGT c.1122_1122+1insACT p.Q374_V375insT SpliceDonorInsertion - - 1
2-25469919-C-T c.1122+1G>A - IntronicSNV - 9/22 1
2-25469924-A-C c.1118T>G p.L373R Missense 9/23 - 1
2-25469924-AG-GC c.1117_1118delinsGC p.L373A Missense 9/23 - 2
2-25469925-G-C c.1117C>G p.L373V Missense 9/23 - 1
2-25469924-AG-A c.1117del p.L373Cfs*34 Frameshift 9/23 - 1
2-25469927-A-G c.1115T>C p.V372A Missense 9/23 - 1
2-25469928-C-A c.1114G>T p.V372F Missense 9/23 - 1
2-25469928-C-T c.1114G>A p.V372I Missense 9/23 - 4
2-25469931-C-A c.1111G>T p.E371* Nonsense 9/23 - 3
2-25469932-G-C c.1110C>G p.Y370* Nonsense 9/23 - 1
2-25469932-G-T c.1110C>A p.Y370* Nonsense 9/23 - 1
2-25469933-TAG-T c.1107_1108del p.Y370Rfs*22 Frameshift 9/23 - 1
2-25469936-A-C c.1106T>G p.I369S Missense 9/23 - 1
2-25469936-A-T c.1106T>A p.I369N Missense 9/23 - 1
2-25469937-T-A c.1105A>T p.I369F Missense 9/23 - 1
2-25469939-G-A c.1103C>T p.A368V Missense 9/23 - 2
2-25469939-G-T c.1103C>A p.A368D Missense 9/23 - 1
2-25469940-C-T c.1102G>A p.A368T Missense 9/23 - 2
2-25469945-C-G c.1097G>C p.R366P Missense 9/23 - 2
2-25469945-C-T c.1097G>A p.R366H Missense 9/23 - 6
2-25469946-G-A c.1096C>T p.R366C Missense 9/23 - 3
2-25469946-G-T c.1096C>A p.R366S Missense 9/23 - 1
2-25469948-T-C c.1094A>G p.Y365C Missense 9/23 - 6
2-25469949-TA-T c.1093del p.Y365Tfs*42 Frameshift 9/23 - 1
2-25469951-A-G c.1091T>C p.M364T Missense 9/23 - 1
2-25469952-TG-T c.1089del p.M364Cfs*43 Frameshift 9/23 - 1
2-25469955-G-C c.1087C>G p.P363A Missense 9/23 - 1
2-25469958-G-A c.1084C>T p.Q362* Nonsense 9/23 - 1
2-25469958-G-C c.1084C>G p.Q362E Missense 9/23 - 1
2-25469958-TG-T c.1084del p.Q362Sfs*45 Frameshift 9/23 - 1
2-25469956-CTGCTTGTTGTACG-C c.1073_1085del p.T358Sfs*45 Frameshift 9/23 - 1
2-25469960-T-C c.1082A>G p.K361R Missense 9/23 - 1
2-25469963-T-C c.1079A>G p.N360S Missense 9/23 - 1
2-25469965-G-C c.1077C>G p.Y359* Nonsense 9/23 - 1
2-25469966-T-C c.1076A>G p.Y359C Missense 9/23 - 1
2-25469967-A-C c.1075T>G p.Y359D Missense 9/23 - 1
2-25469967-A-T c.1075T>A p.Y359N Missense 9/23 - 1
2-25469968-AC-A c.1074del p.Y359Tfs*48 Frameshift 9/23 - 1
2-25469969-G-A c.1073C>T p.T358M Missense 9/23 - 1
2-25469970-T-G c.1072A>C p.T358P Missense 9/23 - 1
2-25469972-GC-G c.1069del p.A357Pfs*50 Frameshift 9/23 - 1
2-25469975-CT-C c.1067del p.Q356Rfs*51 Frameshift 9/23 - 1
2-25469976-G-A c.1066C>T p.Q356* Nonsense 9/23 - 5
2-25469977-GTG-CTC c.1063_1065delinsGAG p.H355E Missense 9/23 - 1
2-25469978-TG-T c.1063del p.H355Tfs*52 Frameshift 9/23 - 1
2-25469978-T-TG c.1063dup p.H355Pfs*38 Frameshift 9/23 - 1
2-25469981-A-G c.1061T>C p.F354S Missense 9/23 - 1
2-25469984-G-A c.1058C>T p.A353V Missense 9/23 - 1
2-25469987-C-T c.1055G>A p.S352N Missense 9/23 - 2
2-25469988-T-C c.1054A>G p.S352G Missense 9/23 - 1
2-25469989-G-T c.1053C>A p.C351* Nonsense 9/23 - 1
2-25469990-CA-C c.1051del p.C351Afs*56 Frameshift 9/23 - 2
2-25469990-C-CA c.1051dup p.C351Lfs*42 Frameshift 9/23 - 1
2-25469996-G-T c.1046C>A p.S349* Nonsense 9/23 - 1
2-25469999-C-T c.1043G>A p.S348N Missense 9/23 - 2
2-25470001-TCAGCG-T c.1037_1041del p.P346Qfs*45 Frameshift 9/23 - 1
2-25470002-A-C c.1040T>G p.L347R Missense 9/23 - 1
2-25470002-A-G c.1040T>C p.L347P Missense 9/23 - 2
2-25470002-A-T c.1040T>A p.L347Q Missense 9/23 - 3
2-25470003-G-GC c.1038dup p.L347Afs*46 Frameshift 9/23 - 1
2-25470002-AGCG-A c.1037_1039del p.P346del InFrameDeletion 9/23 - 1
2-25470005-G-A c.1037C>T p.P346L Missense 9/23 - 1
2-25470005-G-T c.1037C>A p.P346Q Missense 9/23 - 1
2-25470006-G-A c.1036C>T p.P346S Missense 9/23 - 2
2-25470006-G-GC c.1035dup p.P346Afs*47 Frameshift 9/23 - 1
2-25470008-AT-GC c.1033_1034delinsGC p.M345A Missense 9/23 - 1
2-25470011-A-C c.1031T>G p.L344R Missense 9/23 - 3
2-25470011-A-G c.1031T>C p.L344P Missense 9/23 - 6
2-25470011-AG-GC c.1030_1031delinsGC p.L344A Missense 9/23 - 1
2-25470011-A-T c.1031T>A p.L344Q Missense 9/23 - 3
2-25470015-T-A c.1027A>T p.K343* Nonsense 9/23 - 1
2-25470016-C-CG c.1025_1026insC p.E342Dfs*51 Frameshift 9/23 - 1
2-25470017-T-C c.1025A>G p.E342G Missense 9/23 - 2
2-25470018-C-G c.1024G>C p.E342Q Missense 9/23 - 1
2-25470018-C-T c.1024G>A p.E342K Missense 9/23 - 1
2-25470018-TCA-T c.1023_1024del p.K343Afs*49 Frameshift 9/23 - 1
2-25470022-A-C c.1020T>G p.C340W Missense 9/23 - 1
2-25470022-ACACAC-A c.1015_1019del p.V339Cfs*2 SpliceAcceptorDeletion 9/23 8/22 1
2-25470027-C-T c.1015G>A p.V339M Missense 9/23 - 1
2-25470459-C-A c.1014+1G>T - IntronicSNV - 8/22 2
2-25470460-C-A c.1014G>T p.V338= Synonymous 8/23 - 1
2-25470460-CAC-AAA c.1012_1014delinsTTT p.V338F Missense 8/23 - 1
2-25470460-C-G c.1014G>C p.V338= Synonymous 8/23 - 1
2-25470460-C-T c.1014G>A p.V338= Synonymous 8/23 - 1
2-25470464-G-A c.1010C>T p.S337L Missense 8/23 - 3
2-25470464-G-C c.1010C>G p.S337* Nonsense 8/23 - 1
2-25470464-G-T c.1010C>A p.S337* Nonsense 8/23 - 1
2-25470465-A-C c.1009T>G p.S337A Missense 8/23 - 1
2-25470465-A-G c.1009T>C p.S337P Missense 8/23 - 1
2-25470466-G-GAT c.1007_1008insAT p.F336Lfs*10 Frameshift 8/23 - 1
2-25470467-GAATTTGCC-G c.1000_1007del p.G334Lfs*6 Frameshift 8/23 - 1
2-25470470-T-C c.1004A>G p.K335R Missense 8/23 - 1
2-25470473-C-T c.1001G>A p.G334D Missense 8/23 - 2
2-25470474-C-T c.1000G>A p.G334S Missense 8/23 - 1
2-25470475-G-C c.999C>G p.D333E Missense 8/23 - 1
2-25470475-G-T c.999C>A p.D333E Missense 8/23 - 1
2-25470476-T-G c.998A>C p.D333A Missense 8/23 - 2
2-25470477-C-T c.997G>A p.D333N Missense 8/23 - 4
2-25470478-CTCCGA-C c.992_996del p.F331* Frameshift 8/23 - 1
2-25470479-C-A c.995G>T p.G332V Missense 8/23 - 1
2-25470479-C-T c.995G>A p.G332E Missense 8/23 - 2
2-25470480-C-A c.994G>T p.G332* Nonsense 8/23 - 1
2-25470480-C-G c.994G>C p.G332R Missense 8/23 - 1
2-25470480-C-T c.994G>A p.G332R Missense 8/23 - 2
2-25470481-CG-C c.993del p.F331Lfs*14 Frameshift 8/23 - 1
2-25470481-G-C c.993C>G p.F331L Missense 8/23 - 1
2-25470481-GA-G c.992del p.F331Sfs*14 Frameshift 8/23 - 1
2-25470483-A-C c.991T>G p.F331V Missense 8/23 - 3
2-25470484-C-T c.990G>A p.W330* Nonsense 8/23 - 6
2-25470485-C-T c.989G>A p.W330* Nonsense 8/23 - 6
2-25470486-A-G c.988T>C p.W330R Missense 8/23 - 6
2-25470486-A-T c.988T>A p.W330R Missense 8/23 - 3
2-25470489-AT-A c.985del p.M329Cfs*16 Frameshift 8/23 - 1
2-25470489-T-C c.985A>G p.M329V Missense 8/23 - 1
2-25470487-CATGACCCAGCGGGTGCCTTCAGCTGCTCGGCTCCGGCCCGTCATCCACCAAGACACA-C c.930_986del p.I310_V328del InFrameDeletion 8/23 - 1
2-25470492-C-A c.982G>T p.V328F Missense 8/23 - 1
2-25470491-A-AC c.982dup p.V328Gfs*15 Frameshift 8/23 - 1
2-25470493-C-T c.981G>A p.W327* Nonsense 8/23 - 2
2-25470494-C-T c.980G>A p.W327* Nonsense 8/23 - 3
2-25470495-A-C c.979T>G p.W327G Missense 8/23 - 1
2-25470495-CAGCGGGTGCCTTCA-C c.966_979del p.E323Gfs*15 Frameshift 8/23 - 1
2-25470497-C-G c.977G>C p.R326P Missense 8/23 - 1
2-25470497-C-T c.977G>A p.R326H Missense 8/23 - 6
2-25470497-GC-G c.977del p.R326Pfs*19 Frameshift 8/23 - 1
2-25470498-G-A c.976C>T p.R326C Missense 8/23 - 15
2-25470498-G-C c.976C>G p.R326G Missense 8/23 - 1
2-25470498-G-T c.976C>A p.R326S Missense 8/23 - 4
2-25470497-CG-C c.976del p.R326Afs*19 Frameshift 8/23 - 1
2-25470503-C-T c.971G>A p.G324D Missense 8/23 - 1
2-25470507-C-A c.967G>T p.E323* Nonsense 8/23 - 1
2-25470507-C-T c.967G>A p.E323K Missense 8/23 - 1
2-25470510-C-T c.964G>A p.A322T Missense 8/23 - 1
2-25470512-G-A c.962C>T p.A321V Missense 8/23 - 2
2-25470515-C-T c.959G>A p.R320Q Missense 8/23 - 1
2-25470514-T-TCGCA c.959_960insTGCG p.A322Sfs*3 Frameshift 8/23 - 1
2-25470516-G-A c.958C>T p.R320* Nonsense 8/23 - 10
2-25470521-C-T c.953G>A p.R318Q Missense 8/23 - 2
2-25470522-G-A c.952C>T p.R318W Missense 8/23 - 1
2-25470527-G-A c.947C>T p.T316M Missense 8/23 - 1
2-25470528-T-C c.946A>G p.T316A Missense 8/23 - 1
2-25470532-C-T c.942G>A p.W314* Nonsense 8/23 - 4
2-25470533-C-T c.941G>A p.W314* Nonsense 8/23 - 10
2-25470535-CC-AA c.938_939delinsTT p.W313F Missense 8/23 - 1
2-25470535-C-T c.939G>A p.W313* Nonsense 8/23 - 8
2-25470536-C-T c.938G>A p.W313* Nonsense 8/23 - 4
2-25470536-CA-C c.937del p.W313Gfs*3 Frameshift 8/23 - 1
2-25470539-G-A c.935C>T p.S312F Missense 8/23 - 1
2-25470538-AGACACAAT-A c.928_935del p.I310Lfs*11 Frameshift 8/23 - 1
2-25470545-A-C c.929T>G p.I310S Missense 8/23 - 3
2-25470545-A-G c.929T>C p.I310T Missense 8/23 - 2
2-25470545-A-T c.929T>A p.I310N Missense 8/23 - 7
2-25470546-T-A c.928A>T p.I310F Missense 8/23 - 4
2-25470548-C-T c.926G>A p.R309H Missense 8/23 - 2
2-25470549-G-C c.925C>G p.R309G Missense 8/23 - 1
2-25470549-G-T c.925C>A p.R309S Missense 8/23 - 1
2-25470551-C-G c.923G>C p.G308A Missense 8/23 - 2
2-25470554-G-A c.920C>T p.P307L Missense 8/23 - 3
2-25470554-G-C c.920C>G p.P307R Missense 8/23 - 1
2-25470554-G-T c.920C>A p.P307Q Missense 8/23 - 1
2-25470555-G-A c.919C>T p.P307S Missense 8/23 - 3
2-25470555-G-T c.919C>A p.P307T Missense 8/23 - 2
2-25470556-C-A c.918G>T p.W306C Missense 8/23 - 2
2-25470556-C-G c.918G>C p.W306C Missense 8/23 - 1
2-25470556-C-T c.918G>A p.W306* Nonsense 8/23 - 6
2-25470555-GC-G c.918del p.W306Cfs*10 Frameshift 8/23 - 1
2-25470557-C-T c.917G>A p.W306* Nonsense 8/23 - 4
2-25470558-A-C c.916T>G p.W306G Missense 8/23 - 1
2-25470558-CACCAG-C c.912_916del p.W305Afs*17 Frameshift 8/23 - 2
2-25470559-C-A c.915G>T p.W305C Missense 8/23 - 1
2-25470559-C-T c.915G>A p.W305* Nonsense 8/23 - 6
2-25470560-C-T c.914G>A p.W305* Nonsense 8/23 - 5
2-25470562-GGA-G c.910_911del p.S304Lfs*19 Frameshift 8/23 - 1
2-25470566-A-T c.908T>A p.F303Y Missense 8/23 - 1
2-25470569-C-A c.905G>T p.G302V Missense 8/23 - 1
2-25470569-C-T c.905G>A p.G302D Missense 8/23 - 1
2-25470572-C-CTT c.901_902insAA p.R301Qfs*16 Frameshift 8/23 - 1
2-25470573-G-A c.901C>T p.R301W Missense 8/23 - 10
2-25470575-A-T c.899T>A p.L300Q Missense 8/23 - 1
2-25470578-T-A c.896A>T p.K299I Missense 8/23 - 2
2-25470576-GT-G c.897del p.K299Nfs*17 Frameshift 8/23 - 1
2-25470581-C-T c.893G>A p.G298E Missense 8/23 - 6
2-25470582-C-A c.892G>T p.G298W Missense 8/23 - 3
2-25470582-C-G c.892G>C p.G298R Missense 8/23 - 2
2-25470582-C-T c.892G>A p.G298R Missense 8/23 - 6
2-25470583-C-A c.891G>T p.W297C Missense 8/23 - 3
2-25470583-C-G c.891G>C p.W297C Missense 8/23 - 2
2-25470583-C-T c.891G>A p.W297* Nonsense 8/23 - 3
2-25470582-CCCA-C c.889_891del p.W297del InFrameDeletion 8/23 - 6
2-25470584-C-G c.890G>C p.W297S Missense 8/23 - 2
2-25470584-C-T c.890G>A p.W297* Nonsense 8/23 - 2
2-25470587-A-C c.887T>G p.V296G Missense 8/23 - 2
2-25470587-A-T c.887T>A p.V296E Missense 8/23 - 1
2-25470588-C-A c.886G>T p.V296L Missense 8/23 - 2
2-25470588-C-G c.886G>C p.V296L Missense 8/23 - 1
2-25470588-C-T c.886G>A p.V296M Missense 8/23 - 4
2-25470590-A-G c.884T>C p.L295P Missense 8/23 - 4
2-25470590-A-T c.884T>A p.L295Q Missense 8/23 - 3
2-25470591-G-C c.883C>G p.L295V Missense 8/23 - 1
2-25470594-C-A c.880G>T p.E294* Nonsense 8/23 - 3
2-25470594-C-T c.880G>A p.E294K Missense 8/23 - 1
2-25470593-TC-T c.880del p.E294Sfs*22 Frameshift 8/23 - 1
2-25470597-C-A c.877G>T p.G293W Missense 8/23 - 1
2-25470597-C-T c.877G>A p.G293R Missense 8/23 - 1
2-25470599-A-G c.875T>C p.I292T Missense 8/23 - 1
2-25470605-A-G c.869T>C p.F290S Missense 8/23 - 1
2-25470607-AG-A c.867del p.F290Lfs*26 Frameshift 8/23 - 1
2-25470608-C-A c.866G>T p.G289V Missense 8/23 - 1
2-25470610-CC-AT c.863_864delinsAT p.R288H Missense 8/23 - 1
2-25470611-CG-C c.862del p.R288Gfs*28 Frameshift 8/23 - 1
2-25470614-C-T c.860G>A p.G287D Missense 8/23 - 1
2-25470615-C-T c.859G>A p.G287S Missense 8/23 - 1
2-25470616-G-A c.858C>T p.D286= Synonymous 8/23 - 1
2-25470628-C-T c.856-10G>A - IntronicSNV - 7/22 1
2-25470905-C-A c.855+1G>T - IntronicSNV - 7/22 1
2-25470905-C-G c.855+1G>C - IntronicSNV - 7/22 2
2-25470905-C-T c.855+1G>A - IntronicSNV - 7/22 4
2-25470906-CCTCGT-C c.851_855del p.Y284* SpliceDonorDeletion 7/23 - 1
2-25470907-CT-C c.854del p.E285Gfs*31 Frameshift 7/23 - 1
2-25470908-C-A c.853G>T p.E285* Nonsense 7/23 - 3
2-25470908-C-T c.853G>A p.E285K Missense 7/23 - 2
2-25470909-G-A c.852C>T p.Y284= Synonymous 7/23 - 1
2-25470909-G-C c.852C>G p.Y284* Nonsense 7/23 - 1
2-25470914-C-A c.847G>T p.E283* Nonsense 7/23 - 2
2-25470914-C-CT c.846dup p.E283Rfs*41 Frameshift 7/23 - 1
2-25470917-G-A c.844C>T p.P282S Missense 7/23 - 1
2-25470920-C-A c.841G>T p.E281* Nonsense 7/23 - 1
2-25470925-T-A c.836A>T p.D279V Missense 7/23 - 2
2-25470929-C-G c.832G>C p.G278R Missense 7/23 - 1
2-25470929-C-T c.832G>A p.G278S Missense 7/23 - 1
2-25470931-G-GC c.829dup p.A277Gfs*4 Frameshift 7/23 - 1
2-25470937-G-A c.824C>T p.T275I Missense 7/23 - 1
2-25470940-G-A c.821C>T p.A274V Missense 7/23 - 2
2-25470941-C-T c.820G>A p.A274T Missense 7/23 - 1
2-25470947-T-A c.814A>T p.K272* Nonsense 7/23 - 1
2-25470949-TC-T c.811del p.D271Tfs*45 Frameshift 7/23 - 2
2-25470953-C-T c.808G>A p.G270R Missense 7/23 - 1
2-25470955-G-A c.806C>T p.A269V Missense 7/23 - 1
2-25470954-AGCATCGGACCCCACGGGCTCAG-A c.785_806del p.P262Lfs*47 Frameshift 7/23 - 1
2-25470956-C-CA c.804dup p.A269Cfs*12 Frameshift 7/23 - 1
2-25470968-AC-A c.793del p.V265Wfs*51 Frameshift 7/23 - 1
2-25470968-C-T c.793G>A p.V265M Missense 7/23 - 2
2-25470971-G-A c.790C>T p.P264S Missense 7/23 - 2
2-25470979-G-A c.782C>T p.T261M Missense 7/23 - 1
2-25470985-G-A c.776C>T p.A259V Missense 7/23 - 1
2-25470986-C-T c.775G>A p.A259T Missense 7/23 - 1
2-25470988-A-C c.773T>G p.V258G Missense 7/23 - 1
2-25470989-AC-A c.772del p.V258Wfs*58 Frameshift 7/23 - 1
2-25470989-C-T c.772G>A p.V258M Missense 7/23 - 2
2-25470990-AGTGG-A c.767_770del p.P256Lfs*59 Frameshift 7/23 - 1
2-25470995-G-T c.766C>A p.P256T Missense 7/23 - 1
2-25470996-GGA-CTC c.763_765delinsGAG p.S255E Missense 7/23 - 2
2-25470992-TG-T c.768del p.T257Lfs*59 Frameshift 7/23 - 1
2-25470992-T-TG c.768dup p.T257Hfs*7 Frameshift 7/23 - 1
2-25470997-GA-TC c.763_764inv p.S255D Missense 7/23 - 2
2-25470998-A-C c.763T>G p.S255A Missense 7/23 - 2
2-25471001-C-G c.760G>C p.A254P Missense 7/23 - 1
2-25471001-C-T c.760G>A p.A254T Missense 7/23 - 2
2-25471001-C-CG c.759dup p.A254Rfs*10 Frameshift 7/23 - 1
2-25471006-T-C c.755A>G p.D252G Missense 7/23 - 1
2-25471009-GT-CA c.751_752delinsTG p.T251C Missense 7/23 - 1
2-25471010-TGGGCTGCTGCACAGCAG-T c.734_750del p.P245Hfs*2 Frameshift 7/23 - 1
2-25471013-G-A c.748C>T p.P250S Missense 7/23 - 1
2-25471016-G-A c.745C>T p.Q249* Nonsense 7/23 - 4
2-25471018-T-C c.743A>G p.Q248R Missense 7/23 - 2
2-25471019-G-A c.742C>T p.Q248* Nonsense 7/23 - 2
2-25471026-CAGGAGGGCTGG-C c.725_735del p.A242Gfs*7 Frameshift 7/23 - 1
2-25471026-AG-A c.734del p.P245Lfs*71 Frameshift 7/23 - 1
2-25471030-G-A c.731C>T p.P244L Missense 7/23 - 1
2-25471029-A-AG c.731dup p.P245Sfs*8 Frameshift 7/23 - 1
2-25471036-G-A c.725C>T p.A242V Missense 7/23 - 1
2-25471036-GGCCTCCTCCAC-G c.715_725del p.V239Qfs*10 Frameshift 7/23 - 1
2-25471040-C-T c.721G>A p.E241K Missense 7/23 - 1
2-25471046-C-T c.715G>A p.V239M Missense 7/23 - 1
2-25471048-CTT-C c.712_713del p.K238Gfs*14 Frameshift 7/23 - 1
2-25471052-G-A c.709C>T p.Q237* Nonsense 7/23 - 2
2-25471056-AC-A c.705del p.E235Dfs*81 Frameshift 7/23 - 1
2-25471057-CT-C c.704del p.E235Gfs*81 Frameshift 7/23 - 1
2-25471058-C-A c.703G>T p.E235* Nonsense 7/23 - 2
2-25471059-CC-GT c.701_702delinsAC p.G234D Missense 7/23 - 1
2-25471057-TC-T c.703del p.E235Sfs*81 Frameshift 7/23 - 1
2-25471061-C-G c.700G>C p.G234R Missense 7/23 - 1
2-25471061-C-T c.700G>A p.G234R Missense 7/23 - 1
2-25471063-G-A c.698C>T p.P233L Missense 7/23 - 1
2-25471061-C-CG c.699dup p.G234Rfs*19 Frameshift 7/23 - 1
2-25471064-G-A c.697C>T p.P233S Missense 7/23 - 1
2-25471069-CT-C c.692del p.Q231Rfs*85 Frameshift 7/23 - 1
2-25471069-T-A c.692A>T p.Q231L Missense 7/23 - 1
2-25471070-G-A c.691C>T p.Q231* Nonsense 7/23 - 4
2-25471071-G-C c.690C>G p.N230K Missense 7/23 - 1
2-25471071-G-T c.690C>A p.N230K Missense 7/23 - 1
2-25471079-C-T c.682G>A p.E228K Missense 7/23 - 2
2-25471081-A-T c.680T>A p.V227E Missense 7/23 - 1
2-25471084-G-A c.677C>T p.A226V Missense 7/23 - 2
2-25471090-A-G c.671T>C p.M224T Missense 7/23 - 1
2-25471091-T-C c.670A>G p.M224V Missense 7/23 - 1
2-25471094-C-A c.667G>T p.G223* Nonsense 7/23 - 1
2-25471094-C-CAGT c.666_667insACT p.A222_G223insT InFrameInsertion 7/23 - 1
2-25471099-A-G c.662T>C p.I221T Missense 7/23 - 1
2-25471105-T-C c.656A>G p.K219R Missense 7/23 - 1
2-25471105-T-G c.656A>C p.K219T Missense 7/23 - 1
2-25471106-T-C c.655A>G p.K219E Missense 7/23 - 1
2-25471121-C-T c.640G>A p.A214T Missense 7/23 - 1
2-25478453-C-G c.640-7332G>C - IntronicSNV - 6/22 4
2-25478453-C-T c.640-7332G>A - IntronicSNV - 6/22 4
2-25482883-T-C c.640-11762A>G - IntronicSNV - 6/22 1
2-25482970-A-G c.640-11849T>C - IntronicSNV - 6/22 2
2-25483121-G-A c.640-12000C>T - IntronicSNV - 6/22 3
2-25485029-A-G c.639+12781T>C - IntronicSNV - 6/22 1
2-25485029-A-T c.639+12781T>A - IntronicSNV - 6/22 1
2-25485735-C-T c.639+12075G>A - IntronicSNV - 6/22 7
2-25487521-G-T c.639+10289C>A - IntronicSNV - 6/22 1
2-25488819-T-A c.639+8991A>T - IntronicSNV - 6/22 3
2-25489132-C-T c.639+8678G>A - IntronicSNV - 6/22 4
2-25489183-G-C c.639+8627C>G - IntronicSNV - 6/22 4
2-25489183-G-T c.639+8627C>A - IntronicSNV - 6/22 4
2-25491016-T-C c.639+6794A>G - IntronicSNV - 6/22 1
2-25491056-A-G c.639+6754T>C - IntronicSNV - 6/22 1
2-25491445-G-T c.639+6365C>A - IntronicSNV - 6/22 1
2-25492467-A-G c.639+5343T>C - IntronicSNV - 6/22 12
2-25493187-G-A c.639+4623C>T - IntronicSNV - 6/22 1
2-25493187-G-C c.639+4623C>G - IntronicSNV - 6/22 1
2-25496840-T-C c.639+970A>G - IntronicSNV - 6/22 2
2-25497810-C-A c.639G>T p.E213D Missense 6/23 - 1
2-25497810-C-G c.639G>C p.E213D Missense 6/23 - 1
2-25497811-T-C c.638A>G p.E213G Missense 6/23 - 1
2-25497812-C-T c.637G>A p.E213K Missense 6/23 - 1
2-25497814-C-T c.635G>A p.R212K Missense 6/23 - 1
2-25497815-T-C c.634A>G p.R212G Missense 6/23 - 1
2-25497814-CT-C c.634del p.R212Gfs*13 Frameshift 6/23 - 1
2-25497819-C-T c.630G>A p.W210* Nonsense 6/23 - 1
2-25497822-GCG-CCA c.625_627delinsTGG p.R209W Missense 6/23 - 1
2-25497823-C-G c.626G>C p.R209P Missense 6/23 - 1
2-25497823-C-T c.626G>A p.R209H Missense 6/23 - 1
2-25497824-G-A c.625C>T p.R209C Missense 6/23 - 1
2-25497834-C-A c.615G>T p.E205D Missense 6/23 - 1
2-25497840-CCG-ACA c.607_609delinsTGT p.R203C Missense 6/23 - 1
2-25497841-C-T c.608G>A p.R203Q Missense 6/23 - 1
2-25497844-T-C c.605A>G p.K202R Missense 6/23 - 1
2-25497846-GCG-TCA c.601_603delinsTGA p.R201* Nonsense 6/23 - 1
2-25497847-C-T c.602G>A p.R201H Missense 6/23 - 2
2-25497852-G-C c.597C>G p.S199R Missense 6/23 - 1
2-25497852-G-T c.597C>A p.S199R Missense 6/23 - 1
2-25497854-T-G c.595A>C p.S199R Missense 6/23 - 1
2-25497854-T-C c.595A>G p.S199G Missense 6/23 - 1
2-25497859-T-C c.590A>G p.Y197C Missense 6/23 - 2
2-25497859-T-G c.590A>C p.Y197S Missense 6/23 - 1
2-25497860-A-G c.589T>C p.Y197H Missense 6/23 - 1
2-25497864-G-C c.585C>G p.P195= Synonymous 6/23 - 1
2-25497865-G-A c.584C>T p.P195L Missense 6/23 - 1
2-25497869-C-A c.580G>T p.D194Y Missense 6/23 - 1
2-25497871-C-T c.578G>A p.G193E Missense 6/23 - 1
2-25497874-G-C c.575C>G p.A192G Missense 6/23 - 1
2-25497877-T-C c.572A>G p.Q191R Missense 6/23 - 1
2-25497883-G-A c.566C>T p.T189I Missense 6/23 - 1
2-25497884-T-C c.565A>G p.T189A Missense 6/23 - 1
2-25497887-G-A c.562C>T p.L188F Missense 6/23 - 1
2-25497891-C-A c.558G>T p.P186= Synonymous 6/23 - 1
2-25497891-C-G c.558G>C p.P186= Synonymous 6/23 - 1
2-25497891-C-T c.558G>A p.P186= Synonymous 6/23 - 1
2-25497893-G-GAGT c.555_556insACT p.M185_P186insT InFrameInsertion 6/23 - 1
2-25497894-C-T c.555G>A p.M185I Missense 6/23 - 1
2-25497895-A-G c.554T>C p.M185T Missense 6/23 - 1
2-25497896-T-G c.553A>C p.M185L Missense 6/23 - 2
2-25497899-G-A c.550C>T p.P184S Missense 6/23 - 1
2-25497901-C-G c.548G>C p.R183P Missense 6/23 - 1
2-25497902-G-A c.547C>T p.R183W Missense 6/23 - 1
2-25497905-G-A c.544C>T p.Q182* Nonsense 6/23 - 3
2-25497907-C-A c.542G>T p.R181L Missense 6/23 - 1
2-25497908-G-A c.541C>T p.R181C Missense 6/23 - 4
2-25497910-A-G c.539T>C p.L180P Missense 6/23 - 1
2-25497910-A-T c.539T>A p.L180H Missense 6/23 - 1
2-25497913-C-T c.536G>A p.S179N Missense 6/23 - 1
2-25497917-A-G c.532T>C p.S178P Missense 6/23 - 1
2-25497918-C-G c.531G>C p.E177D Missense 6/23 - 1
2-25497919-T-A c.530A>T p.E177V Missense 6/23 - 1
2-25497932-C-A c.517G>T p.G173C Missense 6/23 - 1
2-25497934-C-T c.515G>A p.G172D Missense 6/23 - 1
2-25497941-G-C c.508C>G p.L170V Missense 6/23 - 1
2-25497943-C-T c.506G>A p.R169Q Missense 6/23 - 1
2-25497944-G-A c.505C>T p.R169W Missense 6/23 - 1
2-25497946-C-T c.503G>A p.G168D Missense 6/23 - 1
2-25497948-CC-AT c.500_501delinsAT p.R167H Missense 6/23 - 1
2-25497945-GC-G c.503del p.G168Afs*57 Frameshift 6/23 - 2
2-25497950-G-A c.499C>T p.R167W Missense 6/23 - 2
2-25497955-C-T c.494G>A p.G165D Missense 6/23 - 2
2-25498387-G-C c.474C>G p.I158M Missense 5/23 - 2
2-25498394-G-GT c.466dup p.T156Nfs*60 Frameshift 5/23 - 1
2-25498397-T-G c.464A>C p.E155A Missense 5/23 - 1
2-25498401-T-A c.460A>T p.K154* Nonsense 5/23 - 1
2-25498404-G-A c.457C>T p.Q153* Nonsense 5/23 - 1
2-25498412-C-A c.449G>T p.G150V Missense 5/23 - 1
2-25499867-C-G c.449-1455G>C - IntronicSNV - 4/22 2
2-25500905-C-A c.449-2493G>T - IntronicSNV - 4/22 2
2-25502552-T-G c.448+2758A>C - IntronicSNV - 4/22 1
2-25505309-C-T c.448+1G>A - IntronicSNV - 4/22 1
2-25505312-G-A c.446C>T p.A149V Missense 4/23 - 1
2-25505318-G-T c.440C>A p.A147E Missense 4/23 - 1
2-25505327-C-A c.431G>T p.G144V Missense 4/23 - 1
2-25505328-C-T c.430G>A p.G144R Missense 4/23 - 1
2-25505329-TCG-ACA c.427_429delinsTGT p.R143C Missense 4/23 - 1
2-25505331-G-A c.427C>T p.R143* Nonsense 4/23 - 1
2-25505333-C-G c.425G>C p.G142A Missense 4/23 - 1
2-25505340-T-A c.418A>T p.K140* Nonsense 4/23 - 1
2-25505342-G-T c.416C>A p.P139H Missense 4/23 - 1
2-25505348-C-T c.410G>A p.C137Y Missense 4/23 - 2
2-25505349-A-T c.409T>A p.C137S Missense 4/23 - 1
2-25505351-C-T c.407G>A p.C136Y Missense 4/23 - 1
2-25505355-C-A c.403G>T p.G135C Missense 4/23 - 1
2-25505358-T-TA c.399_400insT p.N134* Nonsense 4/23 - 1
2-25505356-A-AT c.401dup p.N134Kfs*82 Frameshift 4/23 - 3
2-25505356-AT-A c.401del p.N134Mfs*28 Frameshift 4/23 - 1
2-25505363-A-G c.395T>C p.V132A Missense 4/23 - 1
2-25505364-C-T c.394G>A p.V132M Missense 4/23 - 1
2-25505369-C-T c.389G>A p.R130K Missense 4/23 - 1
2-25505370-T-A c.388A>T p.R130* Nonsense 4/23 - 1
2-25505371-T-G c.387A>C p.S129= Synonymous 4/23 - 1
2-25505372-G-A c.386C>T p.S129L Missense 4/23 - 1
2-25505373-A-AG c.384dup p.S129Lfs*87 Frameshift 4/23 - 1
2-25505376-C-T c.382G>A p.A128T Missense 4/23 - 1
2-25505381-G-T c.377C>A p.P126H Missense 4/23 - 1
2-25505396-G-C c.362C>G p.A121G Missense 4/23 - 1
2-25505400-C-G c.358G>C p.G120R Missense 4/23 - 1
2-25505408-T-C c.350A>G p.E117G Missense 4/23 - 1
2-25505412-C-A c.346G>T p.A116S Missense 4/23 - 1
2-25505420-C-A c.338G>T p.G113V Missense 4/23 - 1
2-25505421-C-G c.337G>C p.G113R Missense 4/23 - 1
2-25505421-C-T c.337G>A p.G113R Missense 4/23 - 1
2-25505417-GCCCCGCCCTTCTGCC-G c.326_340del p.G109_G113del InFrameDeletion 4/23 - 1
2-25505432-C-T c.326G>A p.G109E Missense 4/23 - 1
2-25505433-C-T c.325G>A p.G109R Missense 4/23 - 2
2-25505430-GC-G c.327del p.Q110Rfs*52 Frameshift 4/23 - 1
2-25505438-G-A c.320C>T p.A107V Missense 4/23 - 1
2-25505439-C-G c.319G>C p.A107P Missense 4/23 - 1
2-25505442-G-A c.316C>T p.P106S Missense 4/23 - 3
2-25505448-CCTCCTCTGGCTGGGGCTCACTCCG-C c.286_309del p.R96_E103del InFrameDeletion 4/23 - 2
2-25505452-C-G c.306G>C p.E102D Missense 4/23 - 1
2-25505459-TG-T c.298del p.Q100Sfs*62 Frameshift 4/23 - 1
2-25505463-G-A c.295C>T p.P99S Missense 4/23 - 1
2-25505465-T-C c.293A>G p.E98G Missense 4/23 - 1
2-25505466-TC-T c.292del p.E98Sfs*64 Frameshift 4/23 - 1
2-25505470-C-T c.288G>A p.R96= Synonymous 4/23 - 1
2-25505472-G-A c.286C>T p.R96W Missense 4/23 - 1
2-25505472-G-C c.286C>G p.R96G Missense 4/23 - 1
2-25505474-T-TGGC c.283_284insGCC p.K95delinsSQ MultiAAMissense 4/23 - 1
2-25505477-T-G c.281A>C p.E94A Missense 4/23 - 1
2-25505483-TC-AA c.274_275delinsTT p.D92F Missense 4/23 - 1
2-25505484-C-G c.274G>C p.D92H Missense 4/23 - 1
2-25505484-C-T c.274G>A p.D92N Missense 4/23 - 1
2-25505489-T-C c.269A>G p.N90S Missense 4/23 - 1
2-25505492-G-C c.266C>G p.P89R Missense 4/23 - 1
2-25505499-GCT-G c.257_258del p.E86Afs*12 Frameshift 4/23 - 1
2-25505508-C-T c.250G>A p.A84T Missense 4/23 - 2
2-25505518-C-A c.240G>T p.Q80H Missense 4/23 - 1
2-25505520-G-A c.238C>T p.Q80* Nonsense 4/23 - 1
2-25505521-G-A c.237C>T p.A79= Synonymous 4/23 - 1
2-25505521-G-C c.237C>G p.A79= Synonymous 4/23 - 1
2-25505521-G-T c.237C>A p.A79= Synonymous 4/23 - 1
2-25505523-C-A c.235G>T p.A79S Missense 4/23 - 1
2-25505524-C-A c.234G>T p.M78I Missense 4/23 - 1
2-25505524-C-G c.234G>C p.M78I Missense 4/23 - 1
2-25505524-C-T c.234G>A p.M78I Missense 4/23 - 1
2-25505541-A-C c.217T>G p.S73A Missense 4/23 - 1
2-25505545-CAC-GAT c.211_213delinsATC p.V71I Missense 4/23 - 1
2-25505546-A-T c.212T>A p.V71E Missense 4/23 - 1
2-25505548-C-A c.210G>T p.A70= Synonymous 4/23 - 1
2-25505548-C-G c.210G>C p.A70= Synonymous 4/23 - 1
2-25505548-CG-GT c.209_210delinsAC p.A70D Missense 4/23 - 1
2-25505548-C-T c.210G>A p.A70= Synonymous 4/23 - 1
2-25505549-G-A c.209C>T p.A70V Missense 4/23 - 1
2-25505552-G-A c.206C>T p.P69L Missense 4/23 - 1
2-25505562-G-C c.196C>G p.P66A Missense 4/23 - 1
2-25505564-G-A c.194C>T p.T65M Missense 4/23 - 1
2-25505570-C-T c.188G>A p.G63D Missense 4/23 - 1
2-25505578-CAC-GAT c.178_180delinsATC p.V60I Missense 4/23 - 1
2-25508812-T-TA c.178-3233dup - IntronicInsertion - 3/22 1
2-25510276-C-T c.178-4696G>A - IntronicSNV - 3/22 1
2-25512438-T-G c.178-6858A>C - IntronicSNV - 3/22 2
2-25514333-C-T c.177+8675G>A - IntronicSNV - 3/22 1
2-25518470-C-A c.177+4538G>T - IntronicSNV - 3/22 2
2-25518470-C-G c.177+4538G>C - IntronicSNV - 3/22 2
2-25518862-G-A c.177+4146C>T - IntronicSNV - 3/22 3
2-25523007-C-T c.177+1G>A - IntronicSNV - 3/22 1
2-25523009-G-A c.176C>T p.P59L Missense 3/23 - 3
2-25523012-G-A c.173C>T p.P58L Missense 3/23 - 1
2-25523013-G-A c.172C>T p.P58S Missense 3/23 - 1
2-25523008-CG-C c.176del p.P59Rfs*13 Frameshift 3/23 - 1
2-25523021-C-T c.164G>A p.R55H Missense 3/23 - 1
2-25523019-TGCGCTTCCTCCCAG-T c.152_165del p.P51Qfs*9 Frameshift 3/23 - 1
2-25523028-T-C c.157A>G p.R53G Missense 3/23 - 1
2-25523033-G-C c.152C>G p.P51R Missense 3/23 - 1
2-25523037-GCC-G c.146_147del p.G49Afs*15 Frameshift 3/23 - 1
2-25523040-C-G c.145G>C p.G49R Missense 3/23 - 1
2-25523040-C-T c.145G>A p.G49R Missense 3/23 - 1
2-25523045-T-C c.140A>G p.K47R Missense 3/23 - 1
2-25523050-TGC-ACA c.133_135delinsTGT p.A45C Missense 3/23 - 1
2-25523051-G-A c.134C>T p.A45V Missense 3/23 - 2
2-25523054-G-A c.131C>T p.T44M Missense 3/23 - 1
2-25523057-G-A c.128C>T p.T43I Missense 3/23 - 1
2-25523065-C-T c.120G>A p.E40= Synonymous 3/23 - 2
2-25523066-T-TG c.118_119insC p.E40Afs*25 Frameshift 3/23 - 1
2-25523067-C-G c.118G>C p.E40Q Missense 3/23 - 2
2-25523070-G-A c.115C>T p.Q39* Nonsense 3/23 - 1
2-25523072-C-A c.113G>T p.R38L Missense 3/23 - 1
2-25523073-G-A c.112C>T p.R38C Missense 3/23 - 1
2-25523075-T-G c.110A>C p.E37A Missense 3/23 - 1
2-25523079-C-CA c.105_106insT p.E36* Nonsense 3/23 - 1
2-25523081-T-G c.104A>C p.K35T Missense 3/23 - 1
2-25523083-GCC-CCA c.100_102delinsTGG p.G34W Missense 3/23 - 2
2-25523084-C-A c.101G>T p.G34V Missense 3/23 - 2
2-25523084-CC-AG c.100_101delinsCT p.G34L Missense 3/23 - 1
2-25523085-C-G c.100G>C p.G34R Missense 3/23 - 4
2-25523087-AC-A c.98del p.R33Lfs*39 Frameshift 3/23 - 1
2-25523088-G-A c.97C>T p.R33C Missense 3/23 - 1
2-25523094-C-T c.91G>A p.E31K Missense 3/23 - 1
2-25523095-CTC-AAA c.88_90delinsTTT p.E30F Missense 3/23 - 1
2-25523096-T-G c.89A>C p.E30A Missense 3/23 - 6
2-25523108-C-A c.77G>T p.G26V Missense 3/23 - 1
2-25523111-T-A c.74A>T p.D25V Missense 3/23 - 1
2-25524944-T-C c.73-1832A>G - IntronicSNV - 2/22 5
2-25529624-A-C c.73-6512T>G - IntronicSNV - 2/22 4
2-25531350-G-A c.72+5432C>T - IntronicSNV - 2/22 3
2-25531779-A-G c.72+5003T>C - IntronicSNV - 2/22 1
2-25531779-A-T c.72+5003T>A - IntronicSNV - 2/22 1
2-25532969-C-T c.72+3813G>A - IntronicSNV - 2/22 4
2-25535543-T-C c.72+1239A>G - IntronicSNV - 2/22 3
2-25536785-TCG-ACA c.67_69delinsTGT p.R23C Missense 2/23 - 2
2-25536786-CG-GC c.67_68delinsGC p.R23A Missense 2/23 - 1
2-25536787-G-A c.67C>T p.R23* Nonsense 2/23 - 1
2-25536796-C-T c.58G>A p.E20K Missense 2/23 - 1
2-25536798-C-T c.56G>A p.R19Q Missense 2/23 - 1
2-25536799-G-A c.55C>T p.R19W Missense 2/23 - 1
2-25536802-C-G c.52G>C p.E18Q Missense 2/23 - 1
2-25536802-C-T c.52G>A p.E18K Missense 2/23 - 1
2-25536807-GC-CA c.46_47delinsTG p.A16C Missense 2/23 - 1
2-25536809-AGA-CTC c.43_45delinsGAG p.S15E Missense 2/23 - 2
2-25536810-G-A c.44C>T p.S15F Missense 2/23 - 1
2-25536810-GA-CC c.43_44delinsGG p.S15G Missense 2/23 - 1
2-25536811-A-C c.43T>G p.S15A Missense 2/23 - 9
2-25536812-GCT-CTC c.40_42delinsGAG p.S14E Missense 2/23 - 1
2-25536813-CT-GC c.40_41delinsGC p.S14A Missense 2/23 - 9
2-25536813-CT-TC c.40_41delinsGA p.S14D Missense 2/23 - 3
2-25536813-CT-TG c.40_41delinsCA p.S14H Missense 2/23 - 1
2-25536814-T-A c.40A>T p.S14C Missense 2/23 - 4
2-25536815-GCT-CTC c.37_39delinsGAG p.S13E Missense 2/23 - 3
2-25536816-C-A c.38G>T p.S13I Missense 2/23 - 1
2-25536816-CT-AA c.37_38delinsTT p.S13F Missense 2/23 - 1
2-25536816-CT-GC c.37_38delinsGC p.S13A Missense 2/23 - 18
2-25536816-CT-TC c.37_38delinsGA p.S13D Missense 2/23 - 3
2-25536816-CT-TG c.37_38delinsCA p.S13H Missense 2/23 - 1
2-25536817-T-A c.37A>T p.S13C Missense 2/23 - 5
2-25536817-T-C c.37A>G p.S13G Missense 2/23 - 1
2-25536819-G-C c.35C>G p.T12S Missense 2/23 - 1
2-25536820-T-G c.34A>C p.T12P Missense 2/23 - 1
2-25536821-G-A c.33C>T p.D11= Synonymous 2/23 - 1
2-25536823-C-T c.31G>A p.D11N Missense 2/23 - 1
2-25536825-CC-TT c.28_29delinsAA p.G10K Missense 2/23 - 1
2-25536822-TC-T c.31del p.D11Tfs*61 Frameshift 2/23 - 1
2-25536826-C-G c.28G>C p.G10R Missense 2/23 - 2
2-25536826-C-T c.28G>A p.G10R Missense 2/23 - 1
2-25536827-G-A c.27C>T p.P9= Synonymous 2/23 - 5
2-25536827-G-C c.27C>G p.P9= Synonymous 2/23 - 3
2-25536827-GG-A c.26_27delinsT p.P9Lfs*63 Frameshift 2/23 - 1
2-25536827-G-T c.27C>A p.P9= Synonymous 2/23 - 1
2-25536826-CG-C c.27del p.D11Tfs*61 Frameshift 2/23 - 1
2-25536832-C-T c.22G>A p.G8S Missense 2/23 - 1
2-25536839-G-A c.15C>T p.P5= Synonymous 2/23 - 1
2-25536839-G-C c.15C>G p.P5= Synonymous 2/23 - 1
2-25536839-G-T c.15C>A p.P5= Synonymous 2/23 - 1
2-25536847-C-A c.7G>T p.A3S Missense 2/23 - 1
2-25536851-C-A c.3G>T p.M1? Missense 2/23 - 1
2-25536851-C-G c.3G>C p.M1? Missense 2/23 - 1
2-25536851-C-T c.3G>A p.M1? Missense 2/23 - 2
2-25539357-G-A c.-177-2327C>T - IntronicSNV - 1/22 4
2-25548902-A-G c.-177-11872T>C - IntronicSNV - 1/22 4
2-25550995-G-A c.-178+13700C>T - intron_variant - 1/22 1
2-25551130-C-T c.-178+13565G>A - intron_variant - 1/22 3
2-25561007-T-A c.-178+3688A>T - intron_variant - 1/22 3