LRP1B LDL receptor related protein 1B

Annotation transcript: NM_018557.3

1951 unique variant annotations were identified in 497 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
2-140990710-C-T c.*45G>A - 3-UTRSNV 91/91 - 1
2-140990775-T-C c.13780A>G p.I4594V Missense 91/91 - 1
2-140990781-T-C c.13774A>G p.I4592V Missense 91/91 - 1
2-140990794-TG-T c.13760del p.P4587Qfs*4 Frameshift 91/91 - 1
2-140990803-T-G c.13752A>C p.E4584D Missense 91/91 - 1
2-140990803-T-A c.13752A>T p.E4584D Missense 91/91 - 1
2-140990805-C-A c.13750G>T p.E4584* Nonsense 91/91 - 1
2-140990808-T-G c.13747A>C p.K4583Q Missense 91/91 - 1
2-140990810-C-T c.13745G>A p.R4582K Missense 91/91 - 1
2-140990837-C-T c.13718G>A p.R4573Q Missense 91/91 - 4
2-140990837-C-A c.13718G>T p.R4573L Missense 91/91 - 1
2-140990838-G-A c.13717C>T p.R4573* Nonsense 91/91 - 2
2-140990857-A-T c.13698T>A p.Y4566* Nonsense 91/91 - 1
2-140990857-A-C c.13698T>G p.Y4566* Nonsense 91/91 - 1
2-140990871-A-C c.13684T>G p.Y4562D Missense 91/91 - 1
2-140990876-G-A c.13679C>T p.P4560L Missense 91/91 - 2
2-140992360-C-T c.13654G>A p.A4552T Missense 90/91 - 1
2-140992401-G-C c.13613C>G p.P4538R Missense 90/91 - 1
2-140992424-A-G c.13590T>C p.A4530= Synonymous 90/91 - 1
2-140992424-A-C c.13590T>G p.A4530= Synonymous 90/91 - 1
2-140992424-A-T c.13590T>A p.A4530= Synonymous 90/91 - 1
2-140992428-C-A c.13586G>T p.S4529I Missense 90/91 - 1
2-140992432-G-A c.13582C>T p.P4528S Missense 90/91 - 1
2-140992440-C-A c.13574G>T p.G4525V Missense 90/91 - 1
2-140992447-AC-A c.13566del p.R4522Sfs*3 Frameshift 90/91 - 1
2-140995717-C-A c.13560+4G>T - IntronicSNV - 89/90 1
2-140995756-G-C c.13525C>G p.L4509V Missense 89/91 - 1
2-140995758-C-T c.13523G>A p.G4508D Missense 89/91 - 1
2-140995765-C-T c.13516G>A p.D4506N Missense 89/91 - 1
2-140995766-G-C c.13515C>G p.N4505K Missense 89/91 - 1
2-140995769-G-T c.13512C>A p.H4504Q Missense 89/91 - 1
2-140995770-T-A c.13511A>T p.H4504L Missense 89/91 - 1
2-140995783-C-T c.13498G>A p.V4500I Missense 89/91 - 1
2-140995786-C-G c.13495G>C p.E4499Q Missense 89/91 - 1
2-140995790-C-T c.13491G>A p.M4497I Missense 89/91 - 1
2-140995792-T-A c.13489A>T p.M4497L Missense 89/91 - 1
2-140995800-G-T c.13481C>A p.S4494Y Missense 89/91 - 1
2-140995803-G-A c.13478C>T p.P4493L Missense 89/91 - 1
2-140995809-C-A c.13472G>T p.G4491V Missense 89/91 - 1
2-140995829-T-A c.13452A>T p.G4484= Synonymous 89/91 - 1
2-140995829-T-C c.13452A>G p.G4484= Synonymous 89/91 - 1
2-140995829-T-G c.13452A>C p.G4484= Synonymous 89/91 - 1
2-140995831-C-A c.13450G>T p.G4484* Nonsense 89/91 - 1
2-140995843-G-A c.13438C>T p.P4480S Missense 89/91 - 1
2-140995846-G-T c.13435C>A p.Q4479K Missense 89/91 - 1
2-140995864-T-C c.13417A>G p.T4473A Missense 89/91 - 1
2-140995865-C-A c.13416G>T p.R4472S Missense 89/91 - 1
2-140997014-C-A c.13412G>T p.R4471I Missense 88/91 - 1
2-140997010-CCTT-C c.13413_13415del p.R4472del SpliceDonorDeletion 88/91 - 1
2-140997014-CT-C c.13411del p.R4471Efs*16 Frameshift 88/91 - 1
2-140997017-TTTC-T c.13406_13408del p.R4469del InFrameDeletion 88/91 - 1
2-140997015-TTTTTC-T c.13406_13410del p.R4469Kfs*7 Frameshift 88/91 - 1
2-140997039-C-A c.13387G>T p.G4463C Missense 88/91 - 1
2-140997044-A-T c.13382T>A p.V4461E Missense 88/91 - 1
2-140997048-A-G c.13378T>C p.L4460= Synonymous 88/91 - 1
2-140997046-T-C c.13380A>G p.L4460= Synonymous 88/91 - 1
2-140997049-G-T c.13377C>A p.T4459= Synonymous 88/91 - 1
2-140997049-G-C c.13377C>G p.T4459= Synonymous 88/91 - 1
2-140997049-G-A c.13377C>T p.T4459= Synonymous 88/91 - 1
2-140997050-G-T c.13376C>A p.T4459N Missense 88/91 - 1
2-140997062-G-A c.13364C>T p.T4455I Missense 88/91 - 1
2-140997063-T-A c.13363A>T p.T4455S Missense 88/91 - 1
2-141004663-A-C c.13316T>G p.I4439S Missense 87/91 - 1
2-141004690-G-A c.13289C>T p.A4430V Missense 87/91 - 1
2-141004693-G-T c.13286C>A p.P4429Q Missense 87/91 - 1
2-141004696-C-A c.13283G>T p.R4428M Missense 87/91 - 1
2-141004700-C-A c.13279G>T p.E4427* Nonsense 87/91 - 1
2-141004704-C-A c.13275G>T p.Q4425H Missense 87/91 - 1
2-141004704-C-G c.13275G>C p.Q4425H Missense 87/91 - 1
2-141004720-T-C c.13259A>G p.N4420S Missense 87/91 - 1
2-141004728-G-T c.13251C>A p.C4417* Nonsense 87/91 - 1
2-141013919-C-T c.13248-9188G>A - IntronicSNV - 86/90 1
2-141023643-T-C c.13247+4168A>G - IntronicSNV - 86/90 1
2-141026436-T-C c.13247+1375A>G - IntronicSNV - 86/90 1
2-141027823-A-T c.13235T>A p.V4412E Missense 86/91 - 1
2-141027824-C-T c.13234G>A p.V4412I Missense 86/91 - 1
2-141027829-G-T c.13229C>A p.T4410K Missense 86/91 - 1
2-141027833-TC-T c.13225del p.E4409Rfs*46 Frameshift 86/91 - 1
2-141027833-C-G c.13225G>C p.E4409Q Missense 86/91 - 1
2-141027839-C-T c.13219G>A p.D4407N Missense 86/91 - 1
2-141027845-G-A c.13213C>T p.Q4405* Nonsense 86/91 - 1
2-141027862-T-C c.13196A>G p.Y4399C Missense 86/91 - 1
2-141027865-C-T c.13193G>A p.C4398Y Missense 86/91 - 1
2-141027867-G-T c.13191C>A p.Y4397* Nonsense 86/91 - 1
2-141027867-G-C c.13191C>G p.Y4397* Nonsense 86/91 - 1
2-141027877-C-A c.13181G>T p.C4394F Missense 86/91 - 1
2-141027888-G-C c.13170C>G p.S4390R Missense 86/91 - 1
2-141027900-C-A c.13158G>T p.K4386N Missense 86/91 - 1
2-141027908-T-G c.13150A>C p.N4384H Missense 86/91 - 1
2-141032003-T-C c.13132A>G p.I4378V Missense 85/91 - 1
2-141032011-CTGTCTT-C c.13118_13123del p.K4373_D4374del InFrameDeletion 85/91 - 1
2-141032015-C-A c.13120G>T p.D4374Y Missense 85/91 - 1
2-141032021-T-A c.13114A>T p.N4372Y Missense 85/91 - 1
2-141032015-CTTTA-C c.13116_13119del p.N4372Kfs*82 Frameshift 85/91 - 1
2-141032031-G-T c.13104C>A p.H4368Q Missense 85/91 - 2
2-141032031-G-C c.13104C>G p.H4368Q Missense 85/91 - 1
2-141032038-C-A c.13097G>T p.G4366V Missense 85/91 - 1
2-141032039-C-T c.13096G>A p.G4366R Missense 85/91 - 1
2-141032033-GC-G c.13101del p.H4368Tfs*4 Frameshift 85/91 - 1
2-141032054-A-T c.13081T>A p.C4361S Missense 85/91 - 1
2-141032066-C-A c.13069G>T p.E4357* Nonsense 85/91 - 1
2-141032078-C-G c.13057G>C p.G4353R Missense 85/91 - 1
2-141032078-C-A c.13057G>T p.G4353* Nonsense 85/91 - 1
2-141032086-C-T c.13049G>A p.R4350H Missense 85/91 - 1
2-141032087-G-A c.13048C>T p.R4350C Missense 85/91 - 2
2-141032088-C-T c.13047G>A p.T4349= Synonymous 85/91 - 1
2-141032116-T-A c.13019A>T p.D4340V Missense 85/91 - 1
2-141032118-A-T c.13017T>A p.D4339E Missense 85/91 - 1
2-141032155-T-A c.12980A>T p.H4327L Missense 85/91 - 1
2-141032159-G-A c.12976C>T p.H4326Y Missense 85/91 - 1
2-141032161-C-T c.12974G>A p.C4325Y Missense 85/91 - 1
2-141032165-C-G c.12970G>C p.V4324L Missense 85/91 - 1
2-141032165-C-A c.12970G>T p.V4324L Missense 85/91 - 1
2-141032167-T-C c.12968A>G p.Y4323C Missense 85/91 - 1
2-141052887-C-A c.12967+2490G>T - IntronicSNV - 84/90 1
2-141052887-C-G c.12967+2490G>C - IntronicSNV - 84/90 1
2-141055388-C-T c.12956G>A p.R4319K Missense 84/91 - 1
2-141055390-G-C c.12954C>G p.D4318E Missense 84/91 - 1
2-141055390-G-T c.12954C>A p.D4318E Missense 84/91 - 1
2-141055392-C-A c.12952G>T p.D4318Y Missense 84/91 - 1
2-141055395-C-T c.12949G>A p.G4317R Missense 84/91 - 1
2-141055399-G-C c.12945C>G p.Y4315* Nonsense 84/91 - 1
2-141055406-G-T c.12938C>A p.P4313Q Missense 84/91 - 1
2-141055406-G-A c.12938C>T p.P4313L Missense 84/91 - 1
2-141055434-C-G c.12910G>C p.G4304R Missense 84/91 - 1
2-141055436-G-T c.12908C>A p.A4303D Missense 84/91 - 1
2-141055447-G-A c.12897C>T p.C4299= Synonymous 84/91 - 1
2-141055466-C-T c.12878G>A p.C4293Y Missense 84/91 - 1
2-141055464-GAC-G c.12878_12879del p.C4293Sfs*40 Frameshift 84/91 - 1
2-141055499-G-A c.12845C>T p.P4282L Missense 84/91 - 1
2-141055524-T-A c.12820A>T p.S4274C Missense 84/91 - 1
2-141063830-T-C c.12806-8292A>G - IntronicSNV - 83/90 1
2-141072495-A-T c.12805+9T>A - IntronicSNV - 83/90 1
2-141072504-C-A c.12805G>T p.G4269W Missense 83/91 - 1
2-141072519-C-A c.12790G>T p.V4264L Missense 83/91 - 1
2-141072528-C-T c.12781G>A p.G4261R Missense 83/91 - 1
2-141072530-C-T c.12779G>A p.G4260E Missense 83/91 - 1
2-141072542-T-C c.12767A>G p.Y4256C Missense 83/91 - 1
2-141072551-C-T c.12758G>A p.C4253Y Missense 83/91 - 1
2-141072560-A-G c.12749T>C p.V4250A Missense 83/91 - 1
2-141072566-C-A c.12743G>T p.C4248F Missense 83/91 - 1
2-141072572-T-C c.12737A>G p.E4246G Missense 83/91 - 1
2-141072575-C-T c.12734G>A p.G4245E Missense 83/91 - 1
2-141072587-G-T c.12722C>A p.P4241H Missense 83/91 - 1
2-141072604-C-A c.12705G>T p.L4235F Missense 83/91 - 1
2-141072618-C-A c.12691G>T p.E4231* Nonsense 83/91 - 1
2-141072633-T-C c.12676A>G p.R4226G Missense 83/91 - 1
2-141072638-C-T c.12671G>A p.G4224E Missense 83/91 - 1
2-141072650-G-C c.12659C>G p.T4220S Missense 83/91 - 1
2-141072651-T-A c.12658A>T p.T4220S Missense 83/91 - 1
2-141072654-A-C c.12655T>G p.L4219V Missense 83/91 - 1
2-141072656-T-G c.12653A>C p.K4218T Missense 83/91 - 1
2-141072660-A-G c.12649T>C p.C4217R Missense 83/91 - 1
2-141079542-G-T c.12630C>A p.D4210E Missense 82/91 - 1
2-141079547-C-A c.12625G>T p.D4209Y Missense 82/91 - 1
2-141079567-A-G c.12605T>C p.L4202S Missense 82/91 - 1
2-141079576-C-T c.12596G>A p.G4199E Missense 82/91 - 4
2-141079607-G-A c.12565C>T p.P4189S Missense 82/91 - 1
2-141079618-C-A c.12554G>T p.C4185F Missense 82/91 - 1
2-141079619-A-G c.12553T>C p.C4185R Missense 82/91 - 1
2-141079628-C-T c.12544G>A p.E4182K Missense 82/91 - 1
2-141079629-G-T c.12543C>A p.C4181* Nonsense 82/91 - 1
2-141079630-C-T c.12542G>A p.C4181Y Missense 82/91 - 1
2-141079646-A-T c.12526T>A p.C4176S Missense 82/91 - 1
2-141079654-G-T c.12518C>A p.P4173H Missense 82/91 - 1
2-141080797-C-A c.12514+665G>T - IntronicSNV - 81/90 1
2-141081480-G-A c.12496C>T p.R4166C Missense 81/91 - 1
2-141081485-G-T c.12491C>A p.S4164Y Missense 81/91 - 1
2-141081497-C-T c.12479G>A p.G4160D Missense 81/91 - 1
2-141081497-ACCT-A c.12477_12479del p.K4159_G4160delinsN MultiAAMissense 81/91 - 1
2-141081521-AG-A c.12455del p.A4152Vfs*2 Frameshift 81/91 - 1
2-141081531-C-A c.12445G>T p.E4149* Nonsense 81/91 - 1
2-141081542-T-C c.12434A>G p.H4145R Missense 81/91 - 1
2-141081546-C-A c.12430G>T p.G4144C Missense 81/91 - 1
2-141081546-C-T c.12430G>A p.G4144S Missense 81/91 - 1
2-141081558-C-A c.12418G>T p.V4140F Missense 81/91 - 1
2-141081561-G-A c.12415C>T p.R4139* Nonsense 81/91 - 3
2-141081576-T-A c.12400A>T p.K4134* Nonsense 81/91 - 1
2-141081582-C-T c.12394G>A p.G4132R Missense 81/91 - 1
2-141081585-C-A c.12391G>T p.A4131S Missense 81/91 - 1
2-141081588-C-T c.12388G>A p.G4130R Missense 81/91 - 1
2-141081588-C-G c.12388G>C p.G4130R Missense 81/91 - 1
2-141081590-T-C c.12386A>G p.Y4129C Missense 81/91 - 1
2-141081600-C-T c.12376G>A p.D4126N Missense 81/91 - 1
2-141081612-C-T c.12364G>A p.D4122N Missense 81/91 - 2
2-141081633-A-C c.12343T>G p.L4115V Missense 81/91 - 1
2-141083329-A-T c.12340+2T>A - IntronicSNV - 80/90 1
2-141083370-C-T c.12301G>A p.D4101N Missense 80/91 - 1
2-141083384-C-A c.12287G>T p.G4096V Missense 80/91 - 1
2-141083410-C-A c.12261G>T p.W4087C Missense 80/91 - 1
2-141083410-C-G c.12261G>C p.W4087C Missense 80/91 - 1
2-141083413-A-T c.12258T>A p.Y4086* Nonsense 80/91 - 1
2-141083420-C-T c.12251G>A p.R4084H Missense 80/91 - 2
2-141083421-G-A c.12250C>T p.R4084C Missense 80/91 - 2
2-141083424-C-A c.12247G>T p.E4083* Nonsense 80/91 - 1
2-141083424-C-T c.12247G>A p.E4083K Missense 80/91 - 1
2-141083426-C-T c.12245G>A p.S4082N Missense 80/91 - 1
2-141083426-C-A c.12245G>T p.S4082I Missense 80/91 - 1
2-141083436-C-A c.12235G>T p.D4079Y Missense 80/91 - 1
2-141083441-G-A c.12230C>T p.A4077V Missense 80/91 - 1
2-141083446-A-C c.12225T>G p.G4075= Synonymous 80/91 - 1
2-141083446-A-T c.12225T>A p.G4075= Synonymous 80/91 - 1
2-141083446-A-G c.12225T>C p.G4075= Synonymous 80/91 - 1
2-141091987-C-CA c.12223+34_12223+35insT - IntronicInsertion - 79/90 1
2-141092033-T-A c.12212A>T p.Q4071L Missense 79/91 - 1
2-141092048-A-G c.12197T>C p.V4066A Missense 79/91 - 1
2-141092057-C-A c.12188G>T p.R4063M Missense 79/91 - 1
2-141092060-C-T c.12185G>A p.R4062K Missense 79/91 - 1
2-141092061-T-A c.12184A>T p.R4062* Nonsense 79/91 - 1
2-141092084-T-G c.12161A>C p.E4054A Missense 79/91 - 2
2-141092101-A-C c.12144T>G p.D4048E Missense 79/91 - 1
2-141092101-A-T c.12144T>A p.D4048E Missense 79/91 - 1
2-141093186-T-A c.12114A>T p.R4038S Missense 78/91 - 1
2-141093187-C-T c.12113G>A p.R4038K Missense 78/91 - 1
2-141093220-C-A c.12080G>T p.G4027V Missense 78/91 - 1
2-141093223-G-A c.12077C>T p.A4026V Missense 78/91 - 1
2-141093246-G-T c.12054C>A p.C4018* Nonsense 78/91 - 1
2-141093253-G-A c.12047C>T p.P4016L Missense 78/91 - 3
2-141093263-G-T c.12037C>A p.L4013M Missense 78/91 - 1
2-141093269-C-A c.12031G>T p.G4011W Missense 78/91 - 1
2-141093289-A-C c.12011T>G p.L4004R Missense 78/91 - 1
2-141093316-C-A c.11984G>T p.S3995I Missense 78/91 - 1
2-141093341-C-A c.11959G>T p.D3987Y Missense 78/91 - 3
2-141093343-G-T c.11957C>A p.T3986N Missense 78/91 - 1
2-141093364-A-AC c.11935dup p.V3979Gfs*9 Frameshift 78/91 - 1
2-141093371-C-A c.11929G>T p.D3977Y Missense 78/91 - 1
2-141093383-C-A c.11917G>T p.D3973Y Missense 78/91 - 1
2-141093401-C-A c.11899G>T p.E3967* Nonsense 78/91 - 1
2-141108376-C-A c.11882G>T p.S3961I Missense 77/91 - 1
2-141108388-C-CT c.11869dup p.R3957Kfs*11 Frameshift 77/91 - 1
2-141108395-C-T c.11863G>A p.E3955K Missense 77/91 - 1
2-141108403-T-G c.11855A>C p.H3952P Missense 77/91 - 1
2-141108409-C-A c.11849G>T p.R3950M Missense 77/91 - 1
2-141108413-T-A c.11845A>T p.K3949* Nonsense 77/91 - 1
2-141108425-C-A c.11833G>T p.G3945* Nonsense 77/91 - 1
2-141108425-C-T c.11833G>A p.G3945R Missense 77/91 - 3
2-141108425-C-G c.11833G>C p.G3945R Missense 77/91 - 1
2-141108427-C-A c.11831G>T p.G3944V Missense 77/91 - 1
2-141108428-C-A c.11830G>T p.G3944C Missense 77/91 - 1
2-141108444-A-G c.11814T>C p.S3938= Synonymous 77/91 - 1
2-141108451-A-G c.11807T>C p.I3936T Missense 77/91 - 1
2-141108467-G-T c.11791C>A p.Q3931K Missense 77/91 - 1
2-141108493-C-A c.11765G>T p.R3922I Missense 77/91 - 1
2-141108498-A-T c.11760T>A p.N3920K Missense 77/91 - 1
2-141108532-C-T c.11726G>A p.G3909D Missense 77/91 - 1
2-141108539-A-G c.11719T>C p.Y3907H Missense 77/91 - 1
2-141108536-TGTA-T c.11719_11721del p.Y3907del InFrameDeletion 77/91 - 1
2-141108540-G-A c.11718C>T p.N3906= Synonymous 77/91 - 1
2-141108548-G-C c.11710C>G p.P3904A Missense 77/91 - 1
2-141108559-CC-AT c.11698_11699delinsAT p.G3900I Missense 77/91 - 1
2-141110522-C-G c.11650G>C p.G3884R Missense 76/91 - 1
2-141110536-G-A c.11636C>T p.T3879I Missense 76/91 - 1
2-141110545-C-G c.11627G>C p.R3876T Missense 76/91 - 1
2-141110556-A-C c.11616T>G p.N3872K Missense 76/91 - 1
2-141110556-A-T c.11616T>A p.N3872K Missense 76/91 - 1
2-141110564-C-T c.11608G>A p.D3870N Missense 76/91 - 1
2-141110566-C-A c.11606G>T p.C3869F Missense 76/91 - 1
2-141110570-C-A c.11602G>T p.V3868L Missense 76/91 - 1
2-141110584-C-A c.11588G>T p.G3863V Missense 76/91 - 1
2-141110601-T-A c.11571A>T p.Q3857H Missense 76/91 - 1
2-141110641-T-C c.11531A>G p.D3844G Missense 76/91 - 1
2-141113911-C-T c.11530G>A p.D3844N Missense 75/91 - 1
2-141113924-G-C c.11517C>G p.N3839K Missense 75/91 - 2
2-141113924-G-T c.11517C>A p.N3839K Missense 75/91 - 2
2-141113930-C-G c.11511G>C p.M3837I Missense 75/91 - 2
2-141113930-C-T c.11511G>A p.M3837I Missense 75/91 - 2
2-141113930-C-A c.11511G>T p.M3837I Missense 75/91 - 2
2-141113958-C-A c.11483G>T p.R3828L Missense 75/91 - 1
2-141113959-G-T c.11482C>A p.R3828S Missense 75/91 - 1
2-141113960-A-T c.11481T>A p.C3827* Nonsense 75/91 - 1
2-141113983-G-T c.11458C>A p.Q3820K Missense 75/91 - 1
2-141113994-G-A c.11447C>T p.A3816V Missense 75/91 - 1
2-141113998-C-G c.11443G>C p.D3815H Missense 75/91 - 1
2-141114001-C-G c.11440G>C p.D3814H Missense 75/91 - 1
2-141114003-C-A c.11438G>T p.G3813V Missense 75/91 - 1
2-141114017-A-AATATCACCGT c.11423_11424insACGGTGATAT p.N3808Kfs*3 Frameshift 75/91 - 1
2-141114025-C-T c.11416G>A p.E3806K Missense 75/91 - 1
2-141114031-T-C c.11410A>G p.T3804A Missense 75/91 - 1
2-141115559-C-T c.11384G>A p.G3795E Missense 74/91 - 1
2-141115595-C-T c.11348G>A p.R3783Q Missense 74/91 - 1
2-141115595-C-A c.11348G>T p.R3783L Missense 74/91 - 1
2-141115596-G-A c.11347C>T p.R3783* Nonsense 74/91 - 2
2-141115599-C-T c.11344G>A p.D3782N Missense 74/91 - 1
2-141115600-A-C c.11343T>G p.C3781W Missense 74/91 - 1
2-141115600-A-T c.11343T>A p.C3781* Nonsense 74/91 - 1
2-141115603-C-A c.11340G>T p.Q3780H Missense 74/91 - 1
2-141115611-C-A c.11332G>T p.D3778Y Missense 74/91 - 1
2-141115612-C-G c.11331G>C p.M3777I Missense 74/91 - 1
2-141115612-C-T c.11331G>A p.M3777I Missense 74/91 - 1
2-141115612-C-A c.11331G>T p.M3777I Missense 74/91 - 1
2-141115619-A-T c.11324T>A p.I3775N Missense 74/91 - 1
2-141115652-T-C c.11291A>G p.K3764R Missense 74/91 - 1
2-141115661-G-A c.11282C>T p.P3761L Missense 74/91 - 1
2-141116420-C-T c.11227G>A p.G3743S Missense 73/91 - 2
2-141116434-C-A c.11213G>T p.G3738V Missense 73/91 - 1
2-141116447-G-T c.11200C>A p.Q3734K Missense 73/91 - 2
2-141116450-C-G c.11197G>C p.E3733Q Missense 73/91 - 1
2-141116478-G-T c.11169C>A p.C3723* Nonsense 73/91 - 1
2-141116491-C-T c.11156G>A p.R3719K Missense 73/91 - 1
2-141116504-A-T c.11143T>A p.C3715S Missense 73/91 - 1
2-141116510-A-T c.11137T>A p.F3713I Missense 73/91 - 1
2-141122229-C-T c.11131+1G>A - IntronicSNV - 72/90 1
2-141122230-C-A c.11131G>T p.V3711F Missense 72/91 - 1
2-141122239-C-A c.11122G>T p.D3708Y Missense 72/91 - 1
2-141122241-G-A c.11120C>T p.P3707L Missense 72/91 - 1
2-141122248-C-T c.11113G>A p.E3705K Missense 72/91 - 1
2-141122260-C-T c.11101G>A p.D3701N Missense 72/91 - 1
2-141122269-C-T c.11092G>A p.D3698N Missense 72/91 - 2
2-141122270-G-A c.11091C>T p.D3697= Synonymous 72/91 - 1
2-141122275-C-A c.11086G>T p.E3696* Nonsense 72/91 - 1
2-141122286-A-T c.11075T>A p.V3692E Missense 72/91 - 1
2-141122299-G-C c.11062C>G p.L3688V Missense 72/91 - 1
2-141122313-T-G c.11048A>C p.N3683T Missense 72/91 - 1
2-141122319-C-G c.11042G>C p.C3681S Missense 72/91 - 1
2-141122325-A-G c.11036T>C p.F3679S Missense 72/91 - 1
2-141122328-T-A c.11033A>T p.E3678V Missense 72/91 - 1
2-141122329-TC-T c.11032del p.E3678Sfs*78 Frameshift 72/91 - 1
2-141122335-C-A c.11026G>T p.A3676S Missense 72/91 - 2
2-141122349-C-T c.11012G>A p.G3671E Missense 72/91 - 1
2-141128279-C-G c.11008G>C p.G3670R Missense 71/91 - 1
2-141128281-C-G c.11006G>C p.R3669T Missense 71/91 - 1
2-141128292-C-G c.10995G>C p.E3665D Missense 71/91 - 1
2-141128292-C-A c.10995G>T p.E3665D Missense 71/91 - 2
2-141128294-C-T c.10993G>A p.E3665K Missense 71/91 - 2
2-141128294-C-A c.10993G>T p.E3665* Nonsense 71/91 - 1
2-141128301-A-C c.10986T>G p.S3662R Missense 71/91 - 1
2-141128301-A-T c.10986T>A p.S3662R Missense 71/91 - 1
2-141128303-T-G c.10984A>C p.S3662R Missense 71/91 - 1
2-141128302-C-T c.10985G>A p.S3662N Missense 71/91 - 1
2-141128311-A-G c.10976T>C p.V3659A Missense 71/91 - 1
2-141128314-C-T c.10973G>A p.C3658Y Missense 71/91 - 1
2-141128318-C-T c.10969G>A p.D3657N Missense 71/91 - 1
2-141128327-C-A c.10960G>T p.G3654* Nonsense 71/91 - 2
2-141128332-C-T c.10955G>A p.C3652Y Missense 71/91 - 3
2-141128344-A-T c.10943T>A p.I3648N Missense 71/91 - 1
2-141128347-G-A c.10940C>T p.P3647L Missense 71/91 - 1
2-141128348-G-A c.10939C>T p.P3647S Missense 71/91 - 1
2-141128359-G-T c.10928C>A p.A3643D Missense 71/91 - 1
2-141128362-T-A c.10925A>T p.K3642I Missense 71/91 - 1
2-141128367-T-G c.10920A>C p.K3640N Missense 71/91 - 1
2-141128367-T-A c.10920A>T p.K3640N Missense 71/91 - 1
2-141128375-G-A c.10912C>T p.R3638W Missense 71/91 - 4
2-141128379-C-A c.10908G>T p.Q3636H Missense 71/91 - 1
2-141128381-G-T c.10906C>A p.Q3636K Missense 71/91 - 1
2-141128384-C-A c.10903G>T p.D3635Y Missense 71/91 - 1
2-141128751-A-C c.10872T>G p.D3624E Missense 70/91 - 1
2-141128751-A-T c.10872T>A p.D3624E Missense 70/91 - 1
2-141128765-C-A c.10858G>T p.A3620S Missense 70/91 - 1
2-141128779-C-G c.10844G>C p.G3615A Missense 70/91 - 1
2-141128794-G-A c.10829C>T p.S3610F Missense 70/91 - 1
2-141128800-G-A c.10823C>T p.S3608L Missense 70/91 - 1
2-141128806-C-G c.10817G>C p.C3606S Missense 70/91 - 1
2-141128810-C-A c.10813G>T p.G3605* Nonsense 70/91 - 1
2-141128831-C-T c.10792G>A p.E3598K Missense 70/91 - 1
2-141128833-C-T c.10790G>A p.R3597H Missense 70/91 - 1
2-141128851-G-T c.10772C>A p.S3591Y Missense 70/91 - 1
2-141130576-C-A c.10768+1G>T - IntronicSNV - 69/90 1
2-141130577-C-A c.10768G>T p.A3590S Missense 69/91 - 1
2-141130587-G-T c.10758C>A p.S3586R Missense 69/91 - 1
2-141130589-T-C c.10756A>G p.S3586G Missense 69/91 - 1
2-141130589-T-G c.10756A>C p.S3586R Missense 69/91 - 2
2-141130598-C-A c.10747G>T p.D3583Y Missense 69/91 - 1
2-141130598-C-T c.10747G>A p.D3583N Missense 69/91 - 1
2-141130604-C-T c.10741G>A p.G3581R Missense 69/91 - 1
2-141130631-A-G c.10714T>C p.C3572R Missense 69/91 - 1
2-141130669-C-T c.10676G>A p.R3559Q Missense 69/91 - 1
2-141130670-G-A c.10675C>T p.R3559W Missense 69/91 - 2
2-141130672-A-G c.10673T>C p.F3558S Missense 69/91 - 1
2-141130679-C-T c.10666G>A p.D3556N Missense 69/91 - 1
2-141130691-T-A c.10654A>T p.S3552C Missense 69/91 - 1
2-141130705-C-T c.10640G>A p.R3547K Missense 69/91 - 1
2-141135749-C-G c.10638G>C p.E3546D Missense 68/91 - 1
2-141135765-G-A c.10622C>T p.A3541V Missense 68/91 - 1
2-141135766-C-T c.10621G>A p.A3541T Missense 68/91 - 1
2-141135772-C-T c.10615G>A p.D3539N Missense 68/91 - 1
2-141135778-C-G c.10609G>C p.D3537H Missense 68/91 - 1
2-141135784-C-T c.10603G>A p.D3535N Missense 68/91 - 1
2-141135789-C-A c.10598G>T p.W3533L Missense 68/91 - 1
2-141135790-A-G c.10597T>C p.W3533R Missense 68/91 - 2
2-141135790-A-T c.10597T>A p.W3533R Missense 68/91 - 1
2-141135806-A-C c.10581T>G p.C3527W Missense 68/91 - 1
2-141135807-C-T c.10580G>A p.C3527Y Missense 68/91 - 1
2-141135814-C-A c.10573G>T p.G3525W Missense 68/91 - 1
2-141135815-CA-C c.10572del p.N3524Kfs*88 Frameshift 68/91 - 1
2-141135820-C-G c.10567G>C p.A3523P Missense 68/91 - 1
2-141135860-G-A c.10532-5C>T - IntronicSNV - 67/90 1
2-141135860-G-T c.10532-5C>A - IntronicSNV - 67/90 1
2-141143471-C-A c.10522G>T p.E3508* Nonsense 67/91 - 1
2-141143502-G-T c.10491C>A p.S3497R Missense 67/91 - 1
2-141143512-C-A c.10481G>T p.R3494L Missense 67/91 - 2
2-141143513-G-A c.10480C>T p.R3494W Missense 67/91 - 1
2-141143522-C-T c.10471G>A p.D3491N Missense 67/91 - 1
2-141143522-C-CG c.10470dup p.D3491Rfs*6 Frameshift 67/91 - 1
2-141143532-G-C c.10461C>G p.N3487K Missense 67/91 - 1
2-141143532-G-T c.10461C>A p.N3487K Missense 67/91 - 1
2-141143531-AGTT-A c.10459_10461del p.N3487del InFrameDeletion 67/91 - 1
2-141143539-T-A c.10454A>T p.N3485I Missense 67/91 - 1
2-141143549-G-A c.10444C>T p.Q3482* Nonsense 67/91 - 1
2-141145601-G-A c.10415-2023C>T - IntronicSNV - 66/90 1
2-141151319-T-G c.10415-7741A>C - IntronicSNV - 66/90 1
2-141154078-C-A c.10415-10500G>T - IntronicSNV - 66/90 1
2-141156836-C-T c.10415-13258G>A - IntronicSNV - 66/90 1
2-141156884-A-C c.10415-13306T>G - IntronicSNV - 66/90 1
2-141157971-G-A c.10415-14393C>T - IntronicSNV - 66/90 1
2-141166435-T-C c.10415-22857A>G - IntronicSNV - 66/90 1
2-141166435-T-G c.10415-22857A>C - IntronicSNV - 66/90 1
2-141200047-T-C c.10414+26A>G - IntronicSNV - 66/90 1
2-141200075-C-T c.10412G>A p.C3471Y Missense 66/91 - 1
2-141200082-C-T c.10405G>A p.A3469T Missense 66/91 - 1
2-141200100-C-A c.10387G>T p.A3463S Missense 66/91 - 1
2-141200103-A-G c.10384T>C p.C3462R Missense 66/91 - 1
2-141200115-C-A c.10372G>T p.E3458* Nonsense 66/91 - 1
2-141200116-G-C c.10371C>G p.D3457E Missense 66/91 - 1
2-141200128-C-A c.10359G>T p.L3453= Synonymous 66/91 - 1
2-141200129-A-G c.10358T>C p.L3453P Missense 66/91 - 1
2-141200140-G-A c.10347C>T p.C3449= Synonymous 66/91 - 1
2-141200150-G-A c.10337C>T p.T3446M Missense 66/91 - 1
2-141200150-GTAGTCTTACACTGGAAA-G c.10320_10336del p.F3441Efs*11 Frameshift 66/91 - 1
2-141200163-G-A c.10324C>T p.Q3442* Nonsense 66/91 - 1
2-141200167-A-T c.10320T>A p.Y3440* Nonsense 66/91 - 1
2-141200167-A-C c.10320T>G p.Y3440* Nonsense 66/91 - 1
2-141200174-G-A c.10313C>T p.P3438L Missense 66/91 - 1
2-141200189-T-G c.10298A>C p.E3433A Missense 66/91 - 1
2-141201880-G-T c.10294+19C>A - IntronicSNV - 65/90 1
2-141201898-C-G c.10294+1G>C - IntronicSNV - 65/90 1
2-141201906-T-G c.10287A>C p.R3429S Missense 65/91 - 1
2-141201906-T-A c.10287A>T p.R3429S Missense 65/91 - 1
2-141201923-C-G c.10270G>C p.D3424H Missense 65/91 - 1
2-141201935-TC-T c.10258del p.D3420Mfs*98 Frameshift 65/91 - 1
2-141201938-G-A c.10255C>T p.Q3419* Nonsense 65/91 - 1
2-141201941-C-A c.10252G>T p.G3418W Missense 65/91 - 1
2-141201942-A-C c.10251T>G p.N3417K Missense 65/91 - 1
2-141201942-A-T c.10251T>A p.N3417K Missense 65/91 - 1
2-141201944-T-C c.10249A>G p.N3417D Missense 65/91 - 1
2-141201946-C-G c.10247G>C p.C3416S Missense 65/91 - 1
2-141201961-G-A c.10232C>T p.P3411L Missense 65/91 - 1
2-141201971-T-A c.10222A>T p.K3408* Nonsense 65/91 - 1
2-141201978-C-A c.10215G>T p.K3405N Missense 65/91 - 1
2-141201980-T-G c.10213A>C p.K3405Q Missense 65/91 - 1
2-141201980-T-A c.10213A>T p.K3405* Nonsense 65/91 - 1
2-141201990-G-C c.10203C>G p.F3401L Missense 65/91 - 1
2-141202000-G-T c.10193C>A p.S3398* Nonsense 65/91 - 1
2-141202000-G-C c.10193C>G p.S3398* Nonsense 65/91 - 1
2-141202006-C-G c.10187G>C p.C3396S Missense 65/91 - 1
2-141202011-A-G c.10182T>C p.H3394= Synonymous 65/91 - 1
2-141202144-C-A c.10162G>T p.E3388* Nonsense 64/91 - 1
2-141202153-T-G c.10153A>C p.N3385H Missense 64/91 - 1
2-141202156-C-T c.10150G>A p.D3384N Missense 64/91 - 2
2-141202158-C-A c.10148G>T p.G3383V Missense 64/91 - 1
2-141202164-T-G c.10142A>C p.D3381A Missense 64/91 - 1
2-141202207-C-G c.10099G>C p.G3367R Missense 64/91 - 1
2-141202212-C-G c.10094G>C p.G3365A Missense 64/91 - 1
2-141202218-T-G c.10088A>C p.Q3363P Missense 64/91 - 1
2-141202219-G-A c.10087C>T p.Q3363* Nonsense 64/91 - 1
2-141202233-T-A c.10073A>T p.Q3358L Missense 64/91 - 1
2-141202233-T-C c.10073A>G p.Q3358R Missense 64/91 - 1
2-141202246-C-T c.10060G>A p.E3354K Missense 64/91 - 1
2-141208137-G-A c.10057C>T p.P3353S Missense 63/91 - 2
2-141208141-G-C c.10053C>G p.D3351E Missense 63/91 - 1
2-141208141-G-T c.10053C>A p.D3351E Missense 63/91 - 1
2-141208152-C-T c.10042G>A p.E3348K Missense 63/91 - 1
2-141208155-C-T c.10039G>A p.D3347N Missense 63/91 - 1
2-141208160-C-A c.10034G>T p.G3345V Missense 63/91 - 1
2-141208166-C-A c.10028G>T p.G3343V Missense 63/91 - 1
2-141208166-CC-AA c.10027_10028delinsTT p.G3343F Missense 63/91 - 1
2-141208193-C-T c.10001G>A p.W3334* Nonsense 63/91 - 2
2-141208192-C-T c.10002G>A p.W3334* Nonsense 63/91 - 3
2-141208196-C-A c.9998G>T p.W3333L Missense 63/91 - 1
2-141208199-A-C c.9995T>G p.F3332C Missense 63/91 - 1
2-141208206-T-C c.9988A>G p.I3330V Missense 63/91 - 1
2-141208226-C-T c.9968G>A p.R3323H Missense 63/91 - 1
2-141214025-T-A c.9962A>T p.Q3321L Missense 62/91 - 1
2-141214044-A-T c.9943T>A p.S3315T Missense 62/91 - 1
2-141214046-A-G c.9941T>C p.L3314S Missense 62/91 - 1
2-141214049-C-A c.9938G>T p.C3313F Missense 62/91 - 1
2-141214055-C-T c.9932G>A p.R3311K Missense 62/91 - 1
2-141214057-A-T c.9930T>A p.N3310K Missense 62/91 - 1
2-141214064-G-A c.9923C>T p.A3308V Missense 62/91 - 1
2-141214065-C-T c.9922G>A p.A3308T Missense 62/91 - 1
2-141214068-C-A c.9919G>T p.A3307S Missense 62/91 - 1
2-141214082-G-C c.9905C>G p.T3302S Missense 62/91 - 1
2-141214083-T-A c.9904A>T p.T3302S Missense 62/91 - 1
2-141214085-G-T c.9902C>A p.P3301H Missense 62/91 - 1
2-141214088-C-T c.9899G>A p.C3300Y Missense 62/91 - 1
2-141214092-C-T c.9895G>A p.A3299T Missense 62/91 - 1
2-141214097-G-A c.9890C>T p.T3297I Missense 62/91 - 1
2-141214110-C-T c.9877G>A p.G3293R Missense 62/91 - 2
2-141214110-C-G c.9877G>C p.G3293R Missense 62/91 - 1
2-141214115-G-A c.9872C>T p.A3291V Missense 62/91 - 1
2-141214139-C-T c.9848G>A p.G3283D Missense 62/91 - 1
2-141214153-C-G c.9834G>C p.M3278I Missense 62/91 - 1
2-141214153-C-T c.9834G>A p.M3278I Missense 62/91 - 1
2-141214153-C-A c.9834G>T p.M3278I Missense 62/91 - 1
2-141214155-T-C c.9832A>G p.M3278V Missense 62/91 - 1
2-141215041-G-T c.9805C>A p.Q3269K Missense 61/91 - 1
2-141215053-G-A c.9793C>T p.H3265Y Missense 61/91 - 1
2-141215064-A-G c.9782T>C p.I3261T Missense 61/91 - 1
2-141215082-C-A c.9764G>T p.W3255L Missense 61/91 - 1
2-141215089-A-T c.9757T>A p.Y3253N Missense 61/91 - 1
2-141215097-G-C c.9749C>G p.S3250* Nonsense 61/91 - 1
2-141215107-C-T c.9739G>A p.D3247N Missense 61/91 - 1
2-141215115-G-A c.9731C>T p.S3244L Missense 61/91 - 1
2-141215130-C-T c.9716G>A p.R3239H Missense 61/91 - 1
2-141215131-G-A c.9715C>T p.R3239C Missense 61/91 - 1
2-141215146-T-A c.9700A>T p.T3234S Missense 61/91 - 1
2-141215151-C-T c.9695G>A p.G3232E Missense 61/91 - 1
2-141215155-C-T c.9691G>A p.D3231N Missense 61/91 - 1
2-141215164-A-T c.9682T>A p.Y3228N Missense 61/91 - 1
2-141215167-T-A c.9679A>T p.I3227F Missense 61/91 - 1
2-141215173-TC-T c.9673del p.D3225Tfs*27 Frameshift 61/91 - 1
2-141215199-C-A c.9647G>T p.G3216V Missense 61/91 - 1
2-141215206-T-A c.9640A>T p.I3214F Missense 61/91 - 1
2-141215212-G-C c.9634C>G p.Q3212E Missense 61/91 - 1
2-141232718-T-C c.9614A>G p.H3205R Missense 60/91 - 1
2-141232728-C-A c.9604G>T p.D3202Y Missense 60/91 - 1
2-141232755-C-A c.9577G>T p.E3193* Nonsense 60/91 - 1
2-141232758-C-T c.9574G>A p.D3192N Missense 60/91 - 1
2-141232763-C-A c.9569G>T p.W3190L Missense 60/91 - 1
2-141232782-C-G c.9550G>C p.V3184L Missense 60/91 - 1
2-141232786-A-T c.9546T>A p.D3182E Missense 60/91 - 1
2-141232788-C-A c.9544G>T p.D3182Y Missense 60/91 - 1
2-141232800-C-T c.9532G>A p.A3178T Missense 60/91 - 1
2-141232805-G-A c.9527C>T p.P3176L Missense 60/91 - 1
2-141232816-C-A c.9516G>T p.K3172N Missense 60/91 - 2
2-141232824-C-A c.9508G>T p.E3170* Nonsense 60/91 - 1
2-141232851-C-A c.9481G>T p.D3161Y Missense 60/91 - 1
2-141232862-C-T c.9470G>A p.R3157H Missense 60/91 - 1
2-141232863-G-A c.9469C>T p.R3157C Missense 60/91 - 2
2-141232865-C-A c.9467G>T p.G3156V Missense 60/91 - 1
2-141232866-C-A c.9466G>T p.G3156C Missense 60/91 - 1
2-141232874-G-A c.9458C>T p.P3153L Missense 60/91 - 1
2-141239598-G-T c.9425+3314C>A - IntronicSNV - 59/90 2
2-141241213-T-A c.9425+1699A>T - IntronicSNV - 59/90 1
2-141242937-C-A c.9400G>T p.D3134Y Missense 59/91 - 1
2-141242937-C-T c.9400G>A p.D3134N Missense 59/91 - 1
2-141242964-C-A c.9373G>T p.V3125F Missense 59/91 - 1
2-141242979-A-G c.9358T>C p.Y3120H Missense 59/91 - 1
2-141242991-G-T c.9346C>A p.L3116I Missense 59/91 - 1
2-141242996-G-T c.9341C>A p.S3114Y Missense 59/91 - 1
2-141242996-G-A c.9341C>T p.S3114F Missense 59/91 - 1
2-141242999-ACTTCAATGATT-A c.9327_9337del p.R3109Sfs*14 Frameshift 59/91 - 1
2-141243028-C-A c.9309G>T p.W3103C Missense 59/91 - 1
2-141243033-A-G c.9304T>C p.Y3102H Missense 59/91 - 1
2-141243035-A-G c.9302T>C p.L3101P Missense 59/91 - 1
2-141243043-TC-GT c.9293_9294delinsAC p.G3098D Missense 59/91 - 1
2-141243037-G-GT c.9299dup p.N3100Kfs*6 Frameshift 59/91 - 1
2-141243044-C-T c.9293G>A p.G3098E Missense 59/91 - 1
2-141243065-G-A c.9272C>T p.A3091V Missense 59/91 - 1
2-141243066-C-T c.9271G>A p.A3091T Missense 59/91 - 1
2-141243077-G-A c.9260C>T p.A3087V Missense 59/91 - 1
2-141243080-G-A c.9257C>T p.T3086I Missense 59/91 - 1
2-141245200-C-A c.9229G>T p.G3077* Nonsense 58/91 - 1
2-141245214-C-A c.9215G>T p.R3072I Missense 58/91 - 1
2-141245223-C-T c.9206G>A p.R3069H Missense 58/91 - 3
2-141245224-G-A c.9205C>T p.R3069C Missense 58/91 - 1
2-141245235-G-C c.9194C>G p.P3065R Missense 58/91 - 1
2-141245236-G-A c.9193C>T p.P3065S Missense 58/91 - 1
2-141245239-G-A c.9190C>T p.R3064* Nonsense 58/91 - 2
2-141245247-T-G c.9182A>C p.D3061A Missense 58/91 - 1
2-141245252-C-T c.9177G>A p.W3059* Nonsense 58/91 - 1
2-141245266-C-A c.9163G>T p.E3055* Nonsense 58/91 - 1
2-141245307-C-A c.9122G>T p.G3041V Missense 58/91 - 1
2-141245308-C-T c.9121G>A p.G3041R Missense 58/91 - 1
2-141250175-A-G c.9120+2T>C - IntronicSNV - 57/90 1
2-141250178-T-C c.9119A>G p.Q3040R Missense 57/91 - 1
2-141250188-G-A c.9109C>T p.L3037F Missense 57/91 - 1
2-141250190-G-A c.9107C>T p.T3036I Missense 57/91 - 1
2-141250212-T-A c.9085A>T p.S3029C Missense 57/91 - 1
2-141250219-C-A c.9078G>T p.R3026S Missense 57/91 - 2
2-141250219-C-G c.9078G>C p.R3026S Missense 57/91 - 1
2-141250229-T-C c.9068A>G p.H3023R Missense 57/91 - 1
2-141250239-C-T c.9058G>A p.A3020T Missense 57/91 - 1
2-141250257-C-A c.9040G>T p.E3014* Nonsense 57/91 - 1
2-141250260-C-T c.9037G>A p.E3013K Missense 57/91 - 1
2-141250262-T-C c.9035A>G p.D3012G Missense 57/91 - 1
2-141253142-G-A c.9026C>T p.S3009L Missense 56/91 - 1
2-141253143-A-T c.9025T>A p.S3009T Missense 56/91 - 1
2-141253148-C-A c.9020G>T p.C3007F Missense 56/91 - 1
2-141253161-T-G c.9007A>C p.N3003H Missense 56/91 - 1
2-141253164-C-A c.9004G>T p.D3002Y Missense 56/91 - 1
2-141253166-G-C c.9002C>G p.P3001R Missense 56/91 - 1
2-141253176-C-T c.8992G>A p.E2998K Missense 56/91 - 1
2-141253177-A-T c.8991T>A p.Y2997* Nonsense 56/91 - 1
2-141253193-A-T c.8975T>A p.L2992H Missense 56/91 - 1
2-141253203-A-T c.8965T>A p.Y2989N Missense 56/91 - 1
2-141253204-A-T c.8964T>A p.T2988= Synonymous 56/91 - 1
2-141253204-A-C c.8964T>G p.T2988= Synonymous 56/91 - 1
2-141253204-A-G c.8964T>C p.T2988= Synonymous 56/91 - 1
2-141253208-C-T c.8960G>A p.G2987E Missense 56/91 - 1
2-141253223-C-A c.8945G>T p.C2982F Missense 56/91 - 1
2-141253247-G-T c.8921C>A p.S2974* Nonsense 56/91 - 1
2-141253257-C-A c.8911G>T p.E2971* Nonsense 56/91 - 1
2-141253258-A-C c.8910T>G p.D2970E Missense 56/91 - 1
2-141253264-G-A c.8904C>T p.D2968= Synonymous 56/91 - 1
2-141253269-C-T c.8899G>A p.V2967I Missense 56/91 - 1
2-141253281-C-T c.8887G>A p.G2963S Missense 56/91 - 2
2-141253297-G-T c.8871C>A p.F2957L Missense 56/91 - 1
2-141253306-C-A c.8862G>T p.W2954C Missense 56/91 - 1
2-141253309-G-T c.8859C>A p.C2953* Nonsense 56/91 - 1
2-141253310-C-A c.8858G>T p.C2953F Missense 56/91 - 1
2-141259253-T-C c.8850+3A>G - IntronicSNV - 55/90 2
2-141259266-A-C c.8840T>G p.V2947G Missense 55/91 - 1
2-141259275-T-G c.8831A>C p.D2944A Missense 55/91 - 1
2-141259293-C-G c.8813G>C p.C2938S Missense 55/91 - 1
2-141259308-T-G c.8798A>C p.K2933T Missense 55/91 - 1
2-141259308-T-A c.8798A>T p.K2933M Missense 55/91 - 1
2-141259329-T-C c.8777A>G p.H2926R Missense 55/91 - 1
2-141259338-C-A c.8768G>T p.R2923I Missense 55/91 - 1
2-141259342-C-T c.8764G>A p.E2922K Missense 55/91 - 1
2-141259354-C-T c.8752G>A p.D2918N Missense 55/91 - 2
2-141259356-C-A c.8750G>T p.G2917V Missense 55/91 - 1
2-141259366-C-A c.8740G>T p.D2914Y Missense 55/91 - 1
2-141259381-G-T c.8725C>A p.L2909I Missense 55/91 - 1
2-141259381-G-A c.8725C>T p.L2909F Missense 55/91 - 1
2-141259393-G-T c.8713C>A p.P2905T Missense 55/91 - 1
2-141259398-C-G c.8708G>C p.C2903S Missense 55/91 - 1
2-141259398-C-A c.8708G>T p.C2903F Missense 55/91 - 1
2-141259399-A-C c.8707T>G p.C2903G Missense 55/91 - 1
2-141259399-A-G c.8707T>C p.C2903R Missense 55/91 - 1
2-141259400-C-A c.8706G>T p.R2902S Missense 55/91 - 1
2-141259412-G-T c.8694C>A p.C2898* Nonsense 55/91 - 2
2-141259417-T-C c.8689A>G p.M2897V Missense 55/91 - 1
2-141259419-A-T c.8687T>A p.F2896Y Missense 55/91 - 1
2-141259419-A-C c.8687T>G p.F2896C Missense 55/91 - 1
2-141259426-A-G c.8680T>C p.S2894P Missense 55/91 - 1
2-141259431-T-G c.8675A>C p.N2892T Missense 55/91 - 1
2-141259435-A-G c.8671T>C p.C2891R Missense 55/91 - 1
2-141260550-G-T c.8644C>A p.P2882T Missense 54/91 - 1
2-141260565-C-A c.8629G>T p.E2877* Nonsense 54/91 - 1
2-141260594-C-T c.8600G>A p.G2867E Missense 54/91 - 1
2-141260595-C-T c.8599G>A p.G2867R Missense 54/91 - 1
2-141260601-A-T c.8593T>A p.C2865S Missense 54/91 - 1
2-141260600-C-G c.8594G>C p.C2865S Missense 54/91 - 1
2-141260607-A-G c.8587T>C p.W2863R Missense 54/91 - 1
2-141260624-C-T c.8570G>A p.C2857Y Missense 54/91 - 1
2-141260627-C-T c.8567G>A p.R2856Q Missense 54/91 - 1
2-141260628-G-A c.8566C>T p.R2856W Missense 54/91 - 2
2-141260630-C-A c.8564G>T p.G2855V Missense 54/91 - 1
2-141260633-T-A c.8561A>T p.D2854V Missense 54/91 - 1
2-141260642-C-G c.8552G>C p.S2851T Missense 54/91 - 1
2-141260667-G-A c.8527C>T p.R2843* Nonsense 54/91 - 1
2-141260668-A-G c.8526T>C p.Y2842= Synonymous 54/91 - 1
2-141264364-C-A c.8521+1G>T - IntronicSNV - 53/90 1
2-141264371-G-A c.8515C>T p.Q2839* Nonsense 53/91 - 1
2-141264372-C-A c.8514G>T p.P2838= Synonymous 53/91 - 1
2-141264372-C-T c.8514G>A p.P2838= Synonymous 53/91 - 1
2-141264372-C-G c.8514G>C p.P2838= Synonymous 53/91 - 1
2-141264373-G-A c.8513C>T p.P2838L Missense 53/91 - 1
2-141264379-T-A c.8507A>T p.E2836V Missense 53/91 - 1
2-141264407-C-G c.8479G>C p.D2827H Missense 53/91 - 1
2-141264409-T-C c.8477A>G p.H2826R Missense 53/91 - 1
2-141264430-G-C c.8456C>G p.P2819R Missense 53/91 - 1
2-141264446-T-C c.8440A>G p.N2814D Missense 53/91 - 1
2-141264452-A-G c.8434T>C p.C2812R Missense 53/91 - 1
2-141264475-G-A c.8411C>T p.T2804I Missense 53/91 - 1
2-141264485-G-A c.8401C>T p.P2801S Missense 53/91 - 1
2-141267506-C-T c.8389G>A p.A2797T Missense 52/91 - 1
2-141267515-G-T c.8380C>A p.L2794I Missense 52/91 - 1
2-141267521-C-T c.8374G>A p.D2792N Missense 52/91 - 1
2-141267522-G-T c.8373C>A p.S2791R Missense 52/91 - 1
2-141267526-C-T c.8369G>A p.G2790E Missense 52/91 - 1
2-141267533-G-A c.8362C>T p.P2788S Missense 52/91 - 1
2-141267545-C-T c.8350G>A p.E2784K Missense 52/91 - 1
2-141267545-C-G c.8350G>C p.E2784Q Missense 52/91 - 1
2-141267547-C-T c.8348G>A p.G2783D Missense 52/91 - 1
2-141267547-C-A c.8348G>T p.G2783V Missense 52/91 - 1
2-141267566-G-A c.8329C>T p.R2777* Nonsense 52/91 - 1
2-141267568-G-C c.8327C>G p.P2776R Missense 52/91 - 1
2-141267569-G-A c.8326C>T p.P2776S Missense 52/91 - 1
2-141267572-C-T c.8323G>A p.V2775M Missense 52/91 - 2
2-141267573-G-A c.8322C>T p.C2774= Synonymous 52/91 - 2
2-141267573-G-T c.8322C>A p.C2774* Nonsense 52/91 - 1
2-141267578-C-G c.8317G>C p.A2773P Missense 52/91 - 1
2-141267583-G-C c.8312C>G p.S2771C Missense 52/91 - 1
2-141267587-C-T c.8308G>A p.G2770S Missense 52/91 - 1
2-141267604-T-C c.8291A>G p.D2764G Missense 52/91 - 1
2-141267616-G-A c.8279C>T p.T2760I Missense 52/91 - 1
2-141269874-T-C c.8270-2249A>G - IntronicSNV - 51/90 1
2-141272229-G-A c.8262C>T p.S2754= Synonymous 51/91 - 1
2-141272236-C-T c.8255G>A p.S2752N Missense 51/91 - 1
2-141272240-C-A c.8251G>T p.E2751* Nonsense 51/91 - 1
2-141272253-C-T c.8238G>A p.G2746= Synonymous 51/91 - 1
2-141272254-C-A c.8237G>T p.G2746V Missense 51/91 - 1
2-141272261-C-A c.8230G>T p.D2744Y Missense 51/91 - 1
2-141272264-C-G c.8227G>C p.D2743H Missense 51/91 - 1
2-141272296-C-T c.8195G>A p.C2732Y Missense 51/91 - 1
2-141272306-C-T c.8185G>A p.A2729T Missense 51/91 - 2
2-141272326-C-T c.8165G>A p.W2722* Nonsense 51/91 - 1
2-141272325-C-T c.8166G>A p.W2722* Nonsense 51/91 - 1
2-141272333-A-G c.8158T>C p.C2720R Missense 51/91 - 1
2-141274460-C-T c.8147G>A p.C2716Y Missense 50/91 - 1
2-141274470-C-A c.8137G>T p.E2713* Nonsense 50/91 - 1
2-141274473-C-T c.8134G>A p.D2712N Missense 50/91 - 1
2-141274473-C-G c.8134G>C p.D2712H Missense 50/91 - 1
2-141274475-C-T c.8132G>A p.R2711H Missense 50/91 - 1
2-141274491-C-A c.8116G>T p.D2706Y Missense 50/91 - 1
2-141274497-G-A c.8110C>T p.Q2704* Nonsense 50/91 - 1
2-141274503-C-T c.8104G>A p.D2702N Missense 50/91 - 2
2-141274509-T-C c.8098A>G p.I2700V Missense 50/91 - 1
2-141274510-C-G c.8097G>C p.W2699C Missense 50/91 - 1
2-141274526-C-A c.8081G>T p.C2694F Missense 50/91 - 1
2-141274526-C-T c.8081G>A p.C2694Y Missense 50/91 - 1
2-141274547-A-G c.8060T>C p.F2687S Missense 50/91 - 1
2-141274557-C-A c.8050G>T p.E2684* Nonsense 50/91 - 1
2-141274576-T-C c.8031A>G p.Q2677= Synonymous 50/91 - 1
2-141274577-T-C c.8030A>G p.Q2677R Missense 50/91 - 1
2-141283401-T-A c.8026+12A>T - IntronicSNV - 49/90 1
2-141283413-C-G c.8026G>C p.V2676L Missense 49/91 - 1
2-141283428-C-T c.8011G>A p.E2671K Missense 49/91 - 1
2-141283429-A-C c.8010T>G p.D2670E Missense 49/91 - 1
2-141283429-A-T c.8010T>A p.D2670E Missense 49/91 - 1
2-141283458-C-T c.7981G>A p.G2661R Missense 49/91 - 2
2-141283461-C-T c.7978G>A p.D2660N Missense 49/91 - 1
2-141283462-G-A c.7977C>T p.C2659= Synonymous 49/91 - 1
2-141283472-G-T c.7967C>A p.T2656N Missense 49/91 - 1
2-141283483-A-G c.7956T>C p.C2652= Synonymous 49/91 - 1
2-141283529-C-T c.7910G>A p.G2637E Missense 49/91 - 1
2-141283530-C-T c.7909G>A p.G2637R Missense 49/91 - 1
2-141283540-G-T c.7899C>A p.F2633L Missense 49/91 - 1
2-141283813-C-G c.7869G>C p.K2623N Missense 48/91 - 1
2-141283813-C-A c.7869G>T p.K2623N Missense 48/91 - 1
2-141283821-C-G c.7861G>C p.D2621H Missense 48/91 - 3
2-141283852-G-T c.7830C>A p.C2610* Nonsense 48/91 - 1
2-141283856-C-T c.7826G>A p.R2609Q Missense 48/91 - 2
2-141283874-C-T c.7808G>A p.C2603Y Missense 48/91 - 1
2-141283892-C-T c.7790G>A p.R2597H Missense 48/91 - 1
2-141283893-G-A c.7789C>T p.R2597C Missense 48/91 - 1
2-141283898-T-A c.7784A>T p.E2595V Missense 48/91 - 1
2-141283905-T-G c.7777A>C p.T2593P Missense 48/91 - 1
2-141286875-G-A c.7763-2956C>T - IntronicSNV - 47/90 1
2-141286875-G-C c.7763-2956C>G - IntronicSNV - 47/90 1
2-141291610-G-T c.7742C>A p.S2581Y Missense 47/91 - 1
2-141291620-C-T c.7732G>A p.G2578R Missense 47/91 - 1
2-141291625-T-C c.7727A>G p.D2576G Missense 47/91 - 1
2-141291628-T-A c.7724A>T p.N2575I Missense 47/91 - 1
2-141291635-C-T c.7717G>A p.G2573R Missense 47/91 - 1
2-141291641-A-G c.7711T>C p.C2571R Missense 47/91 - 1
2-141291652-T-C c.7700A>G p.H2567R Missense 47/91 - 1
2-141291653-G-A c.7699C>T p.H2567Y Missense 47/91 - 1
2-141291664-C-T c.7688G>A p.R2563H Missense 47/91 - 2
2-141291664-C-A c.7688G>T p.R2563L Missense 47/91 - 1
2-141291665-G-A c.7687C>T p.R2563C Missense 47/91 - 1
2-141291667-C-T c.7685G>A p.R2562H Missense 47/91 - 1
2-141291668-G-T c.7684C>A p.R2562S Missense 47/91 - 1
2-141291668-G-A c.7684C>T p.R2562C Missense 47/91 - 3
2-141291673-T-C c.7679A>G p.Y2560C Missense 47/91 - 1
2-141291673-T-A c.7679A>T p.Y2560F Missense 47/91 - 1
2-141291688-C-A c.7664G>T p.G2555V Missense 47/91 - 1
2-141291694-C-T c.7658G>A p.R2553Q Missense 47/91 - 3
2-141291706-T-C c.7646A>G p.N2549S Missense 47/91 - 1
2-141294168-C-A c.7624G>T p.E2542* Nonsense 46/91 - 1
2-141294187-G-T c.7605C>A p.H2535Q Missense 46/91 - 1
2-141294187-G-C c.7605C>G p.H2535Q Missense 46/91 - 1
2-141294210-G-T c.7582C>A p.L2528I Missense 46/91 - 1
2-141294230-C-A c.7562G>T p.G2521V Missense 46/91 - 1
2-141294231-C-A c.7561G>T p.G2521C Missense 46/91 - 1
2-141294239-C-A c.7553G>T p.C2518F Missense 46/91 - 1
2-141294251-G-T c.7541C>A p.S2514* Nonsense 46/91 - 1
2-141294251-G-A c.7541C>T p.S2514L Missense 46/91 - 1
2-141294257-G-A c.7535C>T p.A2512V Missense 46/91 - 1
2-141294258-C-T c.7534G>A p.A2512T Missense 46/91 - 1
2-141294269-G-A c.7523C>T p.S2508F Missense 46/91 - 3
2-141298557-C-A c.7498G>T p.D2500Y Missense 45/91 - 1
2-141298571-C-T c.7484G>A p.R2495Q Missense 45/91 - 1
2-141298578-C-T c.7477G>A p.G2493R Missense 45/91 - 1
2-141298583-C-G c.7472G>C p.C2491S Missense 45/91 - 1
2-141298586-G-T c.7469C>A p.S2490Y Missense 45/91 - 1
2-141298589-C-A c.7466G>T p.C2489F Missense 45/91 - 1
2-141298596-C-T c.7459G>A p.V2487M Missense 45/91 - 1
2-141298595-ACT-A c.7458_7459del p.R2486Sfs*20 Frameshift 45/91 - 1
2-141298602-C-T c.7453G>A p.G2485R Missense 45/91 - 1
2-141298619-C-T c.7436G>A p.C2479Y Missense 45/91 - 1
2-141298629-G-T c.7426C>A p.H2476N Missense 45/91 - 1
2-141298631-C-T c.7424G>A p.C2475Y Missense 45/91 - 1
2-141298635-C-T c.7420G>A p.G2474S Missense 45/91 - 2
2-141298637-C-T c.7418G>A p.G2473E Missense 45/91 - 1
2-141298656-G-A c.7399C>T p.P2467S Missense 45/91 - 1
2-141298682-G-C c.7388-15C>G - IntronicSNV - 44/90 1
2-141298682-G-T c.7388-15C>A - IntronicSNV - 44/90 1
2-141299357-T-C c.7378A>G p.T2460A Missense 44/91 - 1
2-141299360-C-A c.7375G>T p.D2459Y Missense 44/91 - 1
2-141299366-C-T c.7369G>A p.A2457T Missense 44/91 - 1
2-141299369-C-T c.7366G>A p.V2456I Missense 44/91 - 1
2-141299386-G-A c.7349C>T p.P2450L Missense 44/91 - 1
2-141299387-G-T c.7348C>A p.P2450T Missense 44/91 - 1
2-141299402-C-T c.7333G>A p.D2445N Missense 44/91 - 1
2-141299402-C-A c.7333G>T p.D2445Y Missense 44/91 - 1
2-141299405-A-G c.7330T>C p.S2444P Missense 44/91 - 1
2-141299407-C-T c.7328G>A p.R2443H Missense 44/91 - 2
2-141299408-G-A c.7327C>T p.R2443C Missense 44/91 - 1
2-141299411-G-T c.7324C>A p.L2442I Missense 44/91 - 1
2-141299421-A-T c.7314T>A p.D2438E Missense 44/91 - 1
2-141299429-C-A c.7306G>T p.G2436* Nonsense 44/91 - 1
2-141299435-A-C c.7300T>G p.Y2434D Missense 44/91 - 1
2-141299446-C-G c.7289G>C p.R2430P Missense 44/91 - 1
2-141299446-C-A c.7289G>T p.R2430L Missense 44/91 - 1
2-141299446-C-T c.7289G>A p.R2430Q Missense 44/91 - 1
2-141299447-G-A c.7288C>T p.R2430W Missense 44/91 - 1
2-141299455-G-T c.7280C>A p.A2427D Missense 44/91 - 1
2-141299456-C-A c.7279G>T p.A2427S Missense 44/91 - 1
2-141299456-C-T c.7279G>A p.A2427T Missense 44/91 - 1
2-141299461-C-A c.7274G>T p.R2425I Missense 44/91 - 1
2-141299461-C-T c.7274G>A p.R2425K Missense 44/91 - 1
2-141299464-C-T c.7271G>A p.G2424E Missense 44/91 - 1
2-141299466-C-T c.7269G>A p.W2423* Nonsense 44/91 - 1
2-141299472-C-A c.7263G>T p.S2421= Synonymous 44/91 - 1
2-141299472-C-G c.7263G>C p.S2421= Synonymous 44/91 - 1
2-141299472-C-T c.7263G>A p.S2421= Synonymous 44/91 - 1
2-141299473-G-T c.7262C>A p.S2421* Nonsense 44/91 - 1
2-141299478-G-A c.7257C>T p.F2419= Synonymous 44/91 - 1
2-141299480-A-T c.7255T>A p.F2419I Missense 44/91 - 1
2-141299480-A-G c.7255T>C p.F2419L Missense 44/91 - 1
2-141299478-G-T c.7257C>A p.F2419L Missense 44/91 - 1
2-141299478-G-C c.7257C>G p.F2419L Missense 44/91 - 1
2-141299491-T-A c.7244A>T p.D2415V Missense 44/91 - 1
2-141299507-T-C c.7228A>G p.S2410G Missense 44/91 - 1
2-141299518-CC-AG c.7216_7217delinsCT p.G2406L Missense 44/91 - 1
2-141299522-G-A c.7213C>T p.P2405S Missense 44/91 - 1
2-141337454-C-T c.7194+18746G>A - IntronicSNV - 43/90 1
2-141344124-T-C c.7194+12076A>G - IntronicSNV - 43/90 1
2-141354396-G-T c.7194+1804C>A - IntronicSNV - 43/90 2
2-141356217-C-T c.7177G>A p.D2393N Missense 43/91 - 1
2-141356235-T-A c.7159A>T p.I2387F Missense 43/91 - 1
2-141356240-C-T c.7154G>A p.G2385E Missense 43/91 - 1
2-141356241-C-T c.7153G>A p.G2385R Missense 43/91 - 3
2-141356241-C-G c.7153G>C p.G2385R Missense 43/91 - 3
2-141356252-T-A c.7142A>T p.D2381V Missense 43/91 - 1
2-141356256-A-C c.7138T>G p.S2380A Missense 43/91 - 1
2-141356271-C-A c.7123G>T p.E2375* Nonsense 43/91 - 1
2-141356276-C-T c.7118G>A p.R2373H Missense 43/91 - 1
2-141356277-G-A c.7117C>T p.R2373C Missense 43/91 - 1
2-141356305-G-A c.7089C>T p.L2363= Synonymous 43/91 - 1
2-141356305-G-C c.7089C>G p.L2363= Synonymous 43/91 - 1
2-141356305-G-T c.7089C>A p.L2363= Synonymous 43/91 - 1
2-141356331-G-C c.7063C>G p.Q2355E Missense 43/91 - 1
2-141356331-G-A c.7063C>T p.Q2355* Nonsense 43/91 - 1
2-141356333-G-T c.7061C>A p.A2354D Missense 43/91 - 3
2-141356336-T-A c.7058A>T p.N2353I Missense 43/91 - 1
2-141356340-T-A c.7054A>T p.K2352* Nonsense 43/91 - 1
2-141356343-C-T c.7051G>A p.G2351R Missense 43/91 - 1
2-141356349-G-C c.7045C>G p.L2349V Missense 43/91 - 1
2-141356376-G-A c.7018C>T p.Q2340* Nonsense 43/91 - 1
2-141356380-A-AGGAATTTC c.7013_7014insGAAATTCC p.N2338Kfs*11 Frameshift 43/91 - 1
2-141356388-T-A c.7006A>T p.N2336Y Missense 43/91 - 1
2-141356393-C-T c.7001G>A p.W2334* Nonsense 43/91 - 1
2-141356392-C-T c.7002G>A p.W2334* Nonsense 43/91 - 1
2-141359013-TCTTA-T c.6989+2_6989+5del - IntronicDeletion 42/91 42/90 1
2-141359029-C-A c.6979G>T p.E2327* Nonsense 42/91 - 1
2-141359038-C-G c.6970G>C p.A2324P Missense 42/91 - 1
2-141359046-T-A c.6962A>T p.H2321L Missense 42/91 - 1
2-141359065-A-T c.6943T>A p.S2315T Missense 42/91 - 1
2-141359082-T-A c.6926A>T p.E2309V Missense 42/91 - 1
2-141359087-G-C c.6921C>G p.D2307E Missense 42/91 - 1
2-141359087-G-T c.6921C>A p.D2307E Missense 42/91 - 1
2-141359097-C-G c.6911G>C p.G2304A Missense 42/91 - 1
2-141359097-C-T c.6911G>A p.G2304E Missense 42/91 - 1
2-141359103-C-T c.6905G>A p.R2302Q Missense 42/91 - 1
2-141359104-G-A c.6904C>T p.R2302W Missense 42/91 - 1
2-141359111-G-C c.6897C>G p.D2299E Missense 42/91 - 1
2-141359142-G-T c.6866C>A p.T2289N Missense 42/91 - 1
2-141359173-C-T c.6835G>A p.A2279T Missense 42/91 - 1
2-141359175-C-T c.6833G>A p.R2278K Missense 42/91 - 1
2-141359179-G-A c.6829C>T p.H2277Y Missense 42/91 - 1
2-141359185-C-A c.6823G>T p.A2275S Missense 42/91 - 1
2-141359199-G-T c.6809C>A p.S2270Y Missense 42/91 - 1
2-141359206-C-G c.6802G>C p.V2268L Missense 42/91 - 1
2-141359206-C-A c.6802G>T p.V2268L Missense 42/91 - 1
2-141362058-A-C c.6800-2850T>G - IntronicSNV - 41/90 1
2-141362058-A-G c.6800-2850T>C - IntronicSNV - 41/90 1
2-141362222-G-C c.6800-3014C>G - IntronicSNV - 41/90 1
2-141362222-G-T c.6800-3014C>A - IntronicSNV - 41/90 1
2-141399375-A-C c.6800-40167T>G - IntronicSNV - 41/90 2
2-141401702-A-T c.6800-42494T>A - IntronicSNV - 41/90 1
2-141422979-G-A c.6799+34840C>T - IntronicSNV - 41/90 1
2-141422979-G-C c.6799+34840C>G - IntronicSNV - 41/90 1
2-141457822-C-A c.6796G>T p.E2266* Nonsense 41/91 - 1
2-141457846-A-T c.6772T>A p.W2258R Missense 41/91 - 1
2-141457852-C-A c.6766G>T p.D2256Y Missense 41/91 - 1
2-141457855-T-G c.6763A>C p.K2255Q Missense 41/91 - 1
2-141457869-T-A c.6749A>T p.N2250I Missense 41/91 - 1
2-141457873-C-T c.6745G>A p.G2249R Missense 41/91 - 1
2-141457877-G-T c.6741C>A p.H2247Q Missense 41/91 - 1
2-141457899-C-T c.6719G>A p.R2240Q Missense 41/91 - 1
2-141457910-T-A c.6708A>T p.K2236N Missense 41/91 - 1
2-141457944-A-G c.6674T>C p.I2225T Missense 41/91 - 1
2-141457962-C-T c.6656G>A p.R2219H Missense 41/91 - 2
2-141457965-G-T c.6653C>A p.P2218Q Missense 41/91 - 1
2-141457967-A-C c.6651T>G p.N2217K Missense 41/91 - 1
2-141457967-A-T c.6651T>A p.N2217K Missense 41/91 - 1
2-141457967-A-G c.6651T>C p.N2217= Synonymous 41/91 - 1
2-141457972-C-T c.6646G>A p.E2216K Missense 41/91 - 1
2-141457978-G-A c.6640C>T p.P2214S Missense 41/91 - 1
2-141457985-T-A c.6633A>T p.P2211= Synonymous 41/91 - 1
2-141458001-G-A c.6617C>T p.T2206I Missense 41/91 - 1
2-141458008-C-G c.6610G>C p.D2204H Missense 41/91 - 1
2-141458014-G-T c.6604C>A p.L2202I Missense 41/91 - 1
2-141458014-G-A c.6604C>T p.L2202F Missense 41/91 - 2
2-141458022-C-CT c.6595dup p.S2199Kfs*6 Frameshift 41/91 - 1
2-141458061-T-A c.6557A>T p.E2186V Missense 41/91 - 1
2-141458062-C-A c.6556G>T p.E2186* Nonsense 41/91 - 1
2-141458082-C-T c.6536G>A p.G2179E Missense 41/91 - 1
2-141458085-T-C c.6533A>G p.D2178G Missense 41/91 - 1
2-141458089-C-A c.6529G>T p.E2177* Nonsense 41/91 - 1
2-141458100-C-T c.6518G>A p.G2173E Missense 41/91 - 1
2-141458101-C-T c.6517G>A p.G2173R Missense 41/91 - 1
2-141458106-G-T c.6512C>A p.A2171D Missense 41/91 - 1
2-141458108-A-T c.6510T>A p.C2170* Nonsense 41/91 - 1
2-141458125-G-A c.6493C>T p.R2165W Missense 41/91 - 5
2-141458127-G-C c.6491C>G p.S2164C Missense 41/91 - 1
2-141458133-C-T c.6485G>A p.G2162E Missense 41/91 - 2
2-141458137-G-A c.6481C>T p.R2161* Nonsense 41/91 - 2
2-141458140-A-G c.6478T>C p.Y2160H Missense 41/91 - 1
2-141458142-A-C c.6476T>G p.L2159R Missense 41/91 - 1
2-141458145-C-A c.6473G>T p.C2158F Missense 41/91 - 1
2-141458160-C-T c.6458G>A p.G2153D Missense 41/91 - 1
2-141458176-C-T c.6442G>A p.A2148T Missense 41/91 - 1
2-141458182-C-A c.6436G>T p.V2146F Missense 41/91 - 1
2-141458187-G-T c.6431C>A p.T2144N Missense 41/91 - 1
2-141459298-C-T c.6419G>A p.R2140K Missense 40/91 - 1
2-141459298-C-A c.6419G>T p.R2140I Missense 40/91 - 1
2-141459302-C-T c.6415G>A p.V2139I Missense 40/91 - 1
2-141459304-C-T c.6413G>A p.R2138Q Missense 40/91 - 1
2-141459305-G-A c.6412C>T p.R2138* Nonsense 40/91 - 1
2-141459310-A-G c.6407T>C p.F2136S Missense 40/91 - 1
2-141459313-A-G c.6404T>C p.I2135T Missense 40/91 - 1
2-141459314-T-G c.6403A>C p.I2135L Missense 40/91 - 1
2-141459316-T-A c.6401A>T p.K2134I Missense 40/91 - 1
2-141459344-C-A c.6373G>T p.G2125C Missense 40/91 - 1
2-141459350-T-A c.6367A>T p.R2123* Nonsense 40/91 - 2
2-141459361-G-A c.6356C>T p.T2119M Missense 40/91 - 1
2-141459361-G-C c.6356C>G p.T2119R Missense 40/91 - 1
2-141459361-G-T c.6356C>A p.T2119K Missense 40/91 - 1
2-141459386-C-A c.6331G>T p.G2111C Missense 40/91 - 1
2-141459386-C-G c.6331G>C p.G2111R Missense 40/91 - 1
2-141459407-C-A c.6310G>T p.A2104S Missense 40/91 - 1
2-141459722-T-C c.6290A>G p.Y2097C Missense 39/91 - 1
2-141459722-T-A c.6290A>T p.Y2097F Missense 39/91 - 1
2-141459735-C-A c.6277G>T p.G2093W Missense 39/91 - 1
2-141459731-GC-G c.6280del p.A2094Lfs*27 Frameshift 39/91 - 1
2-141459747-C-G c.6265G>C p.V2089L Missense 39/91 - 1
2-141459755-A-G c.6257T>C p.M2086T Missense 39/91 - 1
2-141459756-T-C c.6256A>G p.M2086V Missense 39/91 - 1
2-141459756-T-G c.6256A>C p.M2086L Missense 39/91 - 1
2-141459756-T-A c.6256A>T p.M2086L Missense 39/91 - 1
2-141459768-T-C c.6244A>G p.S2082G Missense 39/91 - 1
2-141459770-C-T c.6242G>A p.G2081E Missense 39/91 - 1
2-141459810-C-A c.6202G>T p.D2068Y Missense 39/91 - 1
2-141459833-C-T c.6179G>A p.R2060H Missense 39/91 - 1
2-141459833-C-G c.6179G>C p.R2060P Missense 39/91 - 1
2-141459834-G-A c.6178C>T p.R2060C Missense 39/91 - 1
2-141459842-CA-GT c.6169_6170delinsAC p.C2057T Missense 39/91 - 1
2-141459854-T-G c.6158A>C p.K2053T Missense 39/91 - 1
2-141459860-T-A c.6152A>T p.E2051V Missense 39/91 - 1
2-141459861-C-A c.6151G>T p.E2051* Nonsense 39/91 - 1
2-141459999-A-C c.6147T>G p.Y2049* Nonsense 38/91 - 1
2-141460001-A-C c.6145T>G p.Y2049D Missense 38/91 - 1
2-141460004-C-T c.6142G>A p.D2048N Missense 38/91 - 1
2-141460009-G-T c.6137C>A p.S2046Y Missense 38/91 - 1
2-141460013-T-C c.6133A>G p.I2045V Missense 38/91 - 1
2-141460051-A-G c.6095T>C p.V2032A Missense 38/91 - 1
2-141460065-A-C c.6081T>G p.D2027E Missense 38/91 - 1
2-141460065-A-T c.6081T>A p.D2027E Missense 38/91 - 1
2-141460070-A-T c.6076T>A p.L2026M Missense 38/91 - 1
2-141460116-C-A c.6030G>T p.L2010F Missense 38/91 - 1
2-141460119-G-A c.6027C>T p.L2009= Synonymous 38/91 - 1
2-141460119-G-C c.6027C>G p.L2009= Synonymous 38/91 - 1
2-141460119-G-T c.6027C>A p.L2009= Synonymous 38/91 - 1
2-141473545-T-A c.6020A>T p.K2007I Missense 37/91 - 1
2-141473555-G-A c.6010C>T p.H2004Y Missense 37/91 - 1
2-141473572-G-A c.5993C>T p.P1998L Missense 37/91 - 2
2-141473576-G-A c.5989C>T p.Q1997* Nonsense 37/91 - 1
2-141473579-C-T c.5986G>A p.D1996N Missense 37/91 - 1
2-141473582-G-T c.5983C>A p.L1995M Missense 37/91 - 1
2-141473590-G-A c.5975C>T p.S1992F Missense 37/91 - 2
2-141473597-T-C c.5968A>G p.I1990V Missense 37/91 - 1
2-141473605-C-T c.5960G>A p.R1987H Missense 37/91 - 1
2-141473606-G-A c.5959C>T p.R1987C Missense 37/91 - 5
2-141473611-G-A c.5954C>T p.S1985F Missense 37/91 - 1
2-141473615-C-T c.5950G>A p.G1984S Missense 37/91 - 1
2-141473617-T-C c.5948A>G p.N1983S Missense 37/91 - 2
2-141473656-G-A c.5909C>T p.T1970I Missense 37/91 - 1
2-141473664-T-C c.5901A>G p.I1967M Missense 37/91 - 2
2-141474260-A-G c.5884T>C p.W1962R Missense 36/91 - 1
2-141474278-C-A c.5866G>T p.E1956* Nonsense 36/91 - 1
2-141474286-C-T c.5858G>A p.G1953E Missense 36/91 - 1
2-141474293-C-G c.5851G>C p.G1951R Missense 36/91 - 2
2-141474303-G-T c.5841C>A p.I1947= Synonymous 36/91 - 1
2-141474361-T-C c.5783A>G p.D1928G Missense 36/91 - 1
2-141474365-T-A c.5779A>T p.T1927S Missense 36/91 - 1
2-141474372-G-C c.5772C>G p.I1924M Missense 36/91 - 1
2-141474372-G-T c.5772C>A p.I1924= Synonymous 36/91 - 1
2-141474402-G-GAA c.5759-19_5759-18dup - IntronicInsertion - 35/90 1
2-141474402-G-GA c.5759-18dup - IntronicInsertion - 35/90 1
2-141526785-C-A c.5755G>T p.A1919S Missense 35/91 - 1
2-141526796-A-T c.5744T>A p.I1915K Missense 35/91 - 1
2-141526800-C-T c.5740G>A p.G1914R Missense 35/91 - 1
2-141526803-C-T c.5737G>A p.V1913M Missense 35/91 - 2
2-141526805-G-A c.5735C>T p.A1912V Missense 35/91 - 2
2-141526806-C-T c.5734G>A p.A1912T Missense 35/91 - 2
2-141526817-C-G c.5723G>C p.G1908A Missense 35/91 - 1
2-141526820-G-C c.5720C>G p.S1907* Nonsense 35/91 - 1
2-141526835-G-T c.5705C>A p.A1902D Missense 35/91 - 2
2-141526847-T-C c.5693A>G p.D1898G Missense 35/91 - 1
2-141526854-G-T c.5686C>A p.P1896T Missense 35/91 - 1
2-141526862-G-A c.5678C>T p.P1893L Missense 35/91 - 2
2-141526870-C-G c.5670G>C p.R1890S Missense 35/91 - 1
2-141526877-C-T c.5663G>A p.G1888E Missense 35/91 - 1
2-141526884-G-A c.5656C>T p.H1886Y Missense 35/91 - 1
2-141526884-G-C c.5656C>G p.H1886D Missense 35/91 - 1
2-141526904-G-A c.5636C>T p.S1879L Missense 35/91 - 1
2-141528435-T-C c.5626+15A>G - IntronicSNV - 34/90 2
2-141528464-C-T c.5612G>A p.R1871H Missense 34/91 - 1
2-141528465-G-A c.5611C>T p.R1871C Missense 34/91 - 1
2-141528473-T-C c.5603A>G p.Q1868R Missense 34/91 - 1
2-141528474-G-A c.5602C>T p.Q1868* Nonsense 34/91 - 1
2-141528479-T-A c.5597A>T p.Y1866F Missense 34/91 - 1
2-141528483-A-T c.5593T>A p.Y1865N Missense 34/91 - 1
2-141528524-G-A c.5552C>T p.P1851L Missense 34/91 - 1
2-141528525-G-A c.5551C>T p.P1851S Missense 34/91 - 1
2-141528566-G-A c.5510C>T p.S1837F Missense 34/91 - 1
2-141528592-T-C c.5501-17A>G - IntronicSNV - 33/90 1
2-141528592-T-A c.5501-17A>T - IntronicSNV - 33/90 1
2-141533662-T-C c.5500+5A>G - IntronicSNV - 33/90 2
2-141533685-C-G c.5482G>C p.D1828H Missense 33/91 - 1
2-141533692-T-G c.5475A>C p.K1825N Missense 33/91 - 1
2-141533692-T-A c.5475A>T p.K1825N Missense 33/91 - 1
2-141533694-T-C c.5473A>G p.K1825E Missense 33/91 - 1
2-141533698-A-T c.5469T>A p.H1823Q Missense 33/91 - 1
2-141533695-CATATGAACTACCCCAGAAGTCTT-C c.5449_5471del p.K1817Efs*4 Frameshift 33/91 - 1
2-141533729-A-G c.5438T>C p.I1813T Missense 33/91 - 1
2-141533738-T-A c.5429A>T p.N1810I Missense 33/91 - 1
2-141533745-C-T c.5422G>A p.G1808R Missense 33/91 - 2
2-141533745-C-G c.5422G>C p.G1808R Missense 33/91 - 1
2-141533746-G-C c.5421C>G p.D1807E Missense 33/91 - 1
2-141533746-G-T c.5421C>A p.D1807E Missense 33/91 - 1
2-141533756-C-T c.5411G>A p.S1804N Missense 33/91 - 1
2-141533766-C-T c.5401G>A p.G1801R Missense 33/91 - 1
2-141533766-C-G c.5401G>C p.G1801R Missense 33/91 - 1
2-141533790-C-T c.5377G>A p.A1793T Missense 33/91 - 1
2-141533793-A-G c.5374T>C p.W1792R Missense 33/91 - 1
2-141533797-C-A c.5370G>T p.L1790= Synonymous 33/91 - 1
2-141533797-C-T c.5370G>A p.L1790= Synonymous 33/91 - 1
2-141533797-C-G c.5370G>C p.L1790= Synonymous 33/91 - 1
2-141533799-G-A c.5368C>T p.L1790= Synonymous 33/91 - 1
2-141536779-A-G c.5360-2972T>C - IntronicSNV - 32/90 1
2-141536779-A-T c.5360-2972T>A - IntronicSNV - 32/90 1
2-141545755-T-C c.5360-11948A>G - IntronicSNV - 32/90 1
2-141553554-C-T c.5359+17672G>A - IntronicSNV - 32/90 1
2-141571247-C-T c.5338G>A p.A1780T Missense 32/91 - 1
2-141571254-T-A c.5331A>T p.L1777F Missense 32/91 - 1
2-141571254-T-G c.5331A>C p.L1777F Missense 32/91 - 1
2-141571257-T-G c.5328A>C p.E1776D Missense 32/91 - 1
2-141571257-T-A c.5328A>T p.E1776D Missense 32/91 - 1
2-141571259-C-A c.5326G>T p.E1776* Nonsense 32/91 - 1
2-141571297-T-C c.5288A>G p.D1763G Missense 32/91 - 1
2-141571303-T-G c.5282A>C p.N1761T Missense 32/91 - 1
2-141571304-T-A c.5281A>T p.N1761Y Missense 32/91 - 1
2-141571310-T-A c.5275A>T p.R1759* Nonsense 32/91 - 1
2-141571313-T-A c.5272A>T p.N1758Y Missense 32/91 - 1
2-141571317-G-A c.5268C>T p.T1756= Synonymous 32/91 - 1
2-141571322-C-A c.5263G>T p.G1755* Nonsense 32/91 - 1
2-141571323-A-C c.5262T>G p.N1754K Missense 32/91 - 1
2-141571323-A-T c.5262T>A p.N1754K Missense 32/91 - 1
2-141571326-CCC-ACA c.5257_5259delinsTGT p.G1753C Missense 32/91 - 1
2-141571329-T-G c.5256A>G p.S1752= Synonymous 32/91 - 1
2-141571329-T-A c.5256A>T p.S1752= Synonymous 32/91 - 1
2-141571329-CT-C c.5256del p.N1754Mfs*4 Frameshift 32/91 - 1
2-141571341-A-T c.5244T>A p.Y1748* Nonsense 32/91 - 1
2-141571341-A-C c.5244T>G p.Y1748* Nonsense 32/91 - 1
2-141571360-T-A c.5225A>T p.Y1742F Missense 32/91 - 1
2-141572741-G-A c.5210-1366C>T - IntronicSNV - 31/90 1
2-141572741-G-C c.5210-1366C>G - IntronicSNV - 31/90 1
2-141572741-G-T c.5210-1366C>A - IntronicSNV - 31/90 1
2-141573620-A-G c.5210-2245T>C - IntronicSNV - 31/90 1
2-141573620-A-T c.5210-2245T>A - IntronicSNV - 31/90 1
2-141580213-A-G c.5210-8838T>C - IntronicSNV - 31/90 1
2-141597562-A-G c.5207T>C p.V1736A Missense 31/91 - 1
2-141597563-C-G c.5206G>C p.V1736L Missense 31/91 - 1
2-141597569-C-A c.5200G>T p.E1734* Nonsense 31/91 - 1
2-141597591-C-A c.5178G>T p.K1726N Missense 31/91 - 1
2-141597597-A-C c.5172T>G p.N1724K Missense 31/91 - 1
2-141597599-T-A c.5170A>T p.N1724Y Missense 31/91 - 2
2-141597618-C-A c.5151G>T p.M1717I Missense 31/91 - 1
2-141597638-C-T c.5131G>A p.D1711N Missense 31/91 - 2
2-141597643-C-A c.5126G>T p.W1709L Missense 31/91 - 1
2-141597643-C-T c.5126G>A p.W1709* Nonsense 31/91 - 1
2-141597642-C-T c.5127G>A p.W1709* Nonsense 31/91 - 1
2-141598463-T-C c.5114+24A>G - IntronicSNV - 30/90 1
2-141598473-A-T c.5114+14T>A - IntronicSNV - 30/90 1
2-141598473-A-G c.5114+14T>C - IntronicSNV - 30/90 1
2-141598473-A-AT c.5114+13_5114+14insA - IntronicInsertion - 30/90 1
2-141598486-C-T c.5114+1G>A - IntronicSNV - 30/90 1
2-141598515-G-A c.5086C>T p.Q1696* Nonsense 30/91 - 1
2-141598525-CGATTCCATGGAT-C c.5065_5076del p.I1689_I1692del InFrameDeletion 30/91 - 1
2-141598529-C-T c.5072G>A p.G1691E Missense 30/91 - 1
2-141598564-C-G c.5037G>C p.R1679S Missense 30/91 - 1
2-141598564-C-A c.5037G>T p.R1679S Missense 30/91 - 1
2-141598563-GC-G c.5037del p.R1679Sfs*2 Frameshift 30/91 - 1
2-141598572-C-A c.5029G>T p.V1677L Missense 30/91 - 1
2-141598583-G-T c.5018C>A p.T1673K Missense 30/91 - 1
2-141598583-G-A c.5018C>T p.T1673M Missense 30/91 - 2
2-141598587-C-A c.5014G>T p.E1672* Nonsense 30/91 - 1
2-141598595-T-G c.5006A>C p.E1669A Missense 30/91 - 1
2-141598598-G-T c.5003C>A p.S1668* Nonsense 30/91 - 1
2-141598619-C-T c.4982G>A p.R1661H Missense 30/91 - 3
2-141598620-G-C c.4981C>G p.R1661G Missense 30/91 - 1
2-141598620-G-A c.4981C>T p.R1661C Missense 30/91 - 1
2-141598622-G-T c.4979C>A p.S1660* Nonsense 30/91 - 1
2-141598627-C-T c.4974G>A p.W1658* Nonsense 30/91 - 1
2-141598628-C-A c.4973G>T p.W1658L Missense 30/91 - 1
2-141598641-G-T c.4960C>A p.L1654I Missense 30/91 - 1
2-141598642-C-G c.4959G>C p.G1653= Synonymous 30/91 - 1
2-141598646-C-A c.4955G>T p.R1652I Missense 30/91 - 1
2-141603995-G-A c.4939+3676C>T - IntronicSNV - 29/90 2
2-141604211-A-G c.4939+3460T>C - IntronicSNV - 29/90 1
2-141604286-T-A c.4939+3385A>T - IntronicSNV - 29/90 1
2-141604286-T-C c.4939+3385A>G - IntronicSNV - 29/90 1
2-141605075-C-T c.4939+2596G>A - IntronicSNV - 29/90 2
2-141607676-G-C c.4934C>G p.S1645* Nonsense 29/91 - 1
2-141607676-G-T c.4934C>A p.S1645* Nonsense 29/91 - 1
2-141607694-C-G c.4916G>C p.G1639A Missense 29/91 - 1
2-141607697-G-A c.4913C>T p.T1638I Missense 29/91 - 1
2-141607701-C-T c.4909G>A p.G1637R Missense 29/91 - 1
2-141607703-T-G c.4907A>C p.N1636T Missense 29/91 - 1
2-141607707-T-C c.4903A>G p.I1635V Missense 29/91 - 2
2-141607719-T-C c.4891A>G p.K1631E Missense 29/91 - 1
2-141607744-C-A c.4866G>T p.W1622C Missense 29/91 - 1
2-141607744-C-T c.4866G>A p.W1622* Nonsense 29/91 - 1
2-141607754-C-T c.4856G>A p.R1619H Missense 29/91 - 2
2-141607755-G-A c.4855C>T p.R1619C Missense 29/91 - 1
2-141607760-T-G c.4850A>C p.E1617A Missense 29/91 - 1
2-141607761-C-T c.4849G>A p.E1617K Missense 29/91 - 1
2-141607761-C-A c.4849G>T p.E1617* Nonsense 29/91 - 1
2-141607770-C-T c.4840G>A p.D1614N Missense 29/91 - 1
2-141607771-G-A c.4839C>T p.F1613= Synonymous 29/91 - 1
2-141607776-C-T c.4834G>A p.D1612N Missense 29/91 - 1
2-141607788-C-T c.4822G>A p.V1608I Missense 29/91 - 1
2-141607817-G-T c.4793C>A p.T1598K Missense 29/91 - 1
2-141607817-G-A c.4793C>T p.T1598M Missense 29/91 - 1
2-141607822-G-T c.4788C>A p.F1596L Missense 29/91 - 1
2-141607856-C-A c.4754G>T p.R1585I Missense 29/91 - 1
2-141607858-G-C c.4752C>G p.I1584M Missense 29/91 - 1
2-141607869-G-A c.4741C>T p.R1581C Missense 29/91 - 1
2-141609223-T-C c.4709A>G p.Y1570C Missense 28/91 - 1
2-141609241-G-A c.4691C>T p.S1564L Missense 28/91 - 1
2-141609285-A-C c.4647T>G p.N1549K Missense 28/91 - 1
2-141609305-T-A c.4627A>T p.M1543L Missense 28/91 - 1
2-141609316-G-A c.4616C>T p.P1539L Missense 28/91 - 1
2-141609318-G-A c.4614C>T p.G1538= Synonymous 28/91 - 2
2-141609318-G-C c.4614C>G p.G1538= Synonymous 28/91 - 1
2-141609318-G-T c.4614C>A p.G1538= Synonymous 28/91 - 1
2-141609344-G-T c.4588C>A p.P1530T Missense 28/91 - 1
2-141609507-A-G c.4580-155T>C - IntronicSNV - 27/90 1
2-141625174-T-A c.4564A>T p.S1522C Missense 27/91 - 1
2-141625181-G-T c.4557C>A p.Y1519* Nonsense 27/91 - 1
2-141625181-G-C c.4557C>G p.Y1519* Nonsense 27/91 - 1
2-141625187-C-A c.4551G>T p.Q1517H Missense 27/91 - 1
2-141625187-C-G c.4551G>C p.Q1517H Missense 27/91 - 1
2-141625197-A-G c.4541T>C p.F1514S Missense 27/91 - 1
2-141625202-C-A c.4536G>T p.Q1512H Missense 27/91 - 1
2-141625213-T-G c.4525A>C p.T1509P Missense 27/91 - 1
2-141625218-T-A c.4520A>T p.Q1507L Missense 27/91 - 1
2-141625228-T-C c.4510A>G p.S1504G Missense 27/91 - 1
2-141625229-G-T c.4509C>A p.V1503= Synonymous 27/91 - 1
2-141625229-G-C c.4509C>G p.V1503= Synonymous 27/91 - 1
2-141625229-G-A c.4509C>T p.V1503= Synonymous 27/91 - 1
2-141625245-C-T c.4493G>A p.W1498* Nonsense 27/91 - 1
2-141625244-C-T c.4494G>A p.W1498* Nonsense 27/91 - 1
2-141625260-G-C c.4478C>G p.S1493C Missense 27/91 - 1
2-141625260-G-T c.4478C>A p.S1493Y Missense 27/91 - 1
2-141625278-C-T c.4460G>A p.W1487* Nonsense 27/91 - 1
2-141625303-C-A c.4435G>T p.G1479W Missense 27/91 - 1
2-141625324-G-A c.4414C>T p.P1472S Missense 27/91 - 1
2-141625340-A-T c.4398T>A p.H1466Q Missense 27/91 - 1
2-141625346-T-C c.4392A>G p.R1464= Synonymous 27/91 - 1
2-141625348-G-A c.4390C>T p.R1464* Nonsense 27/91 - 2
2-141625360-T-A c.4378A>T p.I1460L Missense 27/91 - 1
2-141625400-TG-AA c.4337_4338delinsTT p.S1446F Missense 27/91 - 1
2-141625403-C-T c.4335G>A p.R1445= Synonymous 27/91 - 1
2-141625410-A-C c.4335-7T>G - IntronicSNV - 26/90 1
2-141625630-TA-T c.4334+37del - IntronicDeletion - 26/90 1
2-141625668-CCTGGCG-C c.4329_4334del p.D1443_R1445delinsE SpliceDonorDeletion 26/91 - 1
2-141625672-C-A c.4330G>T p.A1444S Missense 26/91 - 1
2-141625672-C-T c.4330G>A p.A1444T Missense 26/91 - 1
2-141625675-C-CA c.4326_4327insT p.D1443* Nonsense 26/91 - 1
2-141625694-C-G c.4308G>C p.E1436D Missense 26/91 - 1
2-141625694-C-A c.4308G>T p.E1436D Missense 26/91 - 1
2-141625696-C-G c.4306G>C p.E1436Q Missense 26/91 - 1
2-141625704-T-A c.4298A>T p.D1433V Missense 26/91 - 1
2-141625707-A-T c.4295T>A p.V1432E Missense 26/91 - 1
2-141625713-A-G c.4289T>C p.L1430P Missense 26/91 - 1
2-141625716-C-T c.4286G>A p.G1429E Missense 26/91 - 1
2-141625724-C-A c.4278G>T p.W1426C Missense 26/91 - 1
2-141625724-C-G c.4278G>C p.W1426C Missense 26/91 - 1
2-141625729-C-G c.4273G>C p.A1425P Missense 26/91 - 1
2-141625729-C-A c.4273G>T p.A1425S Missense 26/91 - 1
2-141625731-C-T c.4271G>A p.G1424E Missense 26/91 - 1
2-141625732-C-T c.4270G>A p.G1424R Missense 26/91 - 1
2-141625739-C-G c.4263G>C p.M1421I Missense 26/91 - 1
2-141625739-C-T c.4263G>A p.M1421I Missense 26/91 - 1
2-141625739-C-A c.4263G>T p.M1421I Missense 26/91 - 1
2-141625753-T-C c.4249A>G p.I1417V Missense 26/91 - 1
2-141625755-G-C c.4247C>G p.T1416S Missense 26/91 - 1
2-141625761-C-T c.4241G>A p.R1414K Missense 26/91 - 1
2-141625761-C-G c.4241G>C p.R1414T Missense 26/91 - 1
2-141625773-C-T c.4229G>A p.S1410N Missense 26/91 - 1
2-141625774-T-G c.4228A>C p.S1410R Missense 26/91 - 1
2-141625779-G-A c.4223C>T p.S1408F Missense 26/91 - 1
2-141625786-A-G c.4216T>C p.S1406P Missense 26/91 - 1
2-141625789-C-A c.4213G>T p.E1405* Nonsense 26/91 - 1
2-141625794-C-T c.4208G>A p.R1403H Missense 26/91 - 1
2-141625816-C-G c.4186G>C p.D1396H Missense 26/91 - 1
2-141625820-C-T c.4182G>A p.W1394* Nonsense 26/91 - 1
2-141625828-G-A c.4174C>T p.L1392F Missense 26/91 - 4
2-141625831-ATT-A c.4170_4171del p.I1391Sfs*14 SpliceAcceptorDeletion 26/91 - 1
2-141631133-T-G c.4170-5301A>C - IntronicSNV - 25/90 1
2-141638598-A-T c.4169+2788T>A - IntronicSNV - 25/90 1
2-141639645-T-C c.4169+1741A>G - IntronicSNV - 25/90 1
2-141640759-C-T c.4169+627G>A - IntronicSNV - 25/90 1
2-141641387-C-CG c.4167_4168insC p.G1390Rfs*16 SpliceDonorInsertion 25/91 - 1
2-141641387-C-CT c.4167_4168insA p.G1390Rfs*16 SpliceDonorInsertion 25/91 - 1
2-141641387-C-CA c.4167dup p.G1390Wfs*16 SpliceDonorInsertion 25/91 - 1
2-141641392-C-T c.4163G>A p.R1388K Missense 25/91 - 1
2-141641392-C-A c.4163G>T p.R1388I Missense 25/91 - 1
2-141641396-G-T c.4159C>A p.P1387T Missense 25/91 - 1
2-141641399-C-CA c.4155_4156insT p.D1386* Nonsense 25/91 - 1
2-141641413-C-A c.4142G>T p.R1381M Missense 25/91 - 1
2-141641429-C-T c.4126G>A p.A1376T Missense 25/91 - 1
2-141641431-C-T c.4124G>A p.G1375E Missense 25/91 - 2
2-141641464-A-G c.4091T>C p.L1364P Missense 25/91 - 1
2-141641475-T-A c.4080A>T p.E1360D Missense 25/91 - 1
2-141641478-G-A c.4077C>T p.I1359= Synonymous 25/91 - 1
2-141641485-T-C c.4070A>G p.D1357G Missense 25/91 - 1
2-141641494-C-T c.4061G>A p.S1354N Missense 25/91 - 1
2-141641506-T-TC c.4048_4049insG p.Y1350* Nonsense 25/91 - 1
2-141641524-C-A c.4031G>T p.W1344L Missense 25/91 - 1
2-141641541-T-G c.4014A>C p.E1338D Missense 25/91 - 1
2-141641541-T-A c.4014A>T p.E1338D Missense 25/91 - 1
2-141641542-T-C c.4013A>G p.E1338G Missense 25/91 - 1
2-141641558-C-A c.3997G>T p.G1333C Missense 25/91 - 1
2-141641569-A-G c.3986T>C p.V1329A Missense 25/91 - 1
2-141641570-C-T c.3985G>A p.V1329I Missense 25/91 - 1
2-141641576-C-A c.3979G>T p.E1327* Nonsense 25/91 - 1
2-141641584-C-G c.3971G>C p.S1324T Missense 25/91 - 1
2-141641590-C-A c.3965G>T p.G1322V Missense 25/91 - 1
2-141643707-C-A c.3964G>T p.G1322C Missense 24/91 - 1
2-141643707-C-G c.3964G>C p.G1322R Missense 24/91 - 1
2-141643731-G-A c.3940C>T p.R1314W Missense 24/91 - 1
2-141643760-C-G c.3911G>C p.W1304S Missense 24/91 - 1
2-141643766-A-C c.3905T>G p.L1302R Missense 24/91 - 1
2-141643771-A-C c.3900T>G p.S1300R Missense 24/91 - 1
2-141643771-A-T c.3900T>A p.S1300R Missense 24/91 - 1
2-141643773-T-G c.3898A>C p.S1300R Missense 24/91 - 1
2-141643789-A-C c.3882T>G p.D1294E Missense 24/91 - 1
2-141643808-C-A c.3863G>T p.R1288I Missense 24/91 - 1
2-141643815-C-T c.3856G>A p.G1286R Missense 24/91 - 1
2-141643833-A-T c.3838T>A p.Y1280N Missense 24/91 - 1
2-141643838-C-A c.3833G>T p.R1278I Missense 24/91 - 1
2-141643838-C-T c.3833G>A p.R1278K Missense 24/91 - 1
2-141643841-TTG-T c.3828_3829del p.H1276Qfs*5 Frameshift 24/91 - 1
2-141643847-A-C c.3824T>G p.L1275R Missense 24/91 - 1
2-141643856-C-A c.3815G>T p.R1272M Missense 24/91 - 1
2-141643866-C-G c.3805G>C p.E1269Q Missense 24/91 - 1
2-141643877-G-A c.3794C>T p.S1265F Missense 24/91 - 1
2-141643892-G-T c.3779C>A p.A1260E Missense 24/91 - 1
2-141643893-C-T c.3778G>A p.A1260T Missense 24/91 - 1
2-141643904-T-C c.3767A>G p.D1256G Missense 24/91 - 1
2-141660489-C-T c.3766G>A p.D1256N Missense 23/91 - 1
2-141660503-C-A c.3752G>T p.S1251I Missense 23/91 - 1
2-141660510-C-T c.3745G>A p.G1249S Missense 23/91 - 1
2-141660522-G-T c.3733C>A p.L1245M Missense 23/91 - 1
2-141660523-C-T c.3732G>A p.K1244= Synonymous 23/91 - 1
2-141660525-T-G c.3730A>C p.K1244Q Missense 23/91 - 1
2-141660543-A-T c.3712T>A p.S1238T Missense 23/91 - 1
2-141660570-C-A c.3685G>T p.E1229* Nonsense 23/91 - 1
2-141660579-G-A c.3676C>T p.Q1226* Nonsense 23/91 - 1
2-141660581-C-A c.3674G>T p.S1225I Missense 23/91 - 1
2-141660593-T-A c.3662A>T p.H1221L Missense 23/91 - 1
2-141660594-G-T c.3661C>A p.H1221N Missense 23/91 - 1
2-141660598-G-A c.3657C>T p.S1219= Synonymous 23/91 - 1
2-141660606-A-G c.3649T>C p.Y1217H Missense 23/91 - 1
2-141660627-T-C c.3628A>G p.K1210E Missense 23/91 - 1
2-141660628-A-T c.3627T>A p.N1209K Missense 23/91 - 1
2-141660650-C-T c.3605G>A p.G1202E Missense 23/91 - 1
2-141660656-G-A c.3599C>T p.P1200L Missense 23/91 - 1
2-141660657-G-T c.3598C>A p.P1200T Missense 23/91 - 3
2-141660675-C-A c.3580G>T p.G1194* Nonsense 23/91 - 1
2-141660677-C-G c.3578G>C p.R1193T Missense 23/91 - 1
2-141660684-G-T c.3571C>A p.P1191T Missense 23/91 - 1
2-141660687-C-G c.3568G>C p.V1190L Missense 23/91 - 1
2-141660704-C-A c.3551G>T p.S1184I Missense 23/91 - 1
2-141660705-T-C c.3550A>G p.S1184G Missense 23/91 - 1
2-141660713-C-G c.3542G>C p.G1181A Missense 23/91 - 1
2-141660721-CAG-AAA c.3532_3534delinsTTT p.L1178F Missense 23/91 - 1
2-141660725-G-A c.3530C>T p.S1177L Missense 23/91 - 1
2-141660730-C-G c.3525G>C p.E1175D Missense 23/91 - 2
2-141660730-C-A c.3525G>T p.E1175D Missense 23/91 - 2
2-141660734-T-C c.3521A>G p.D1174G Missense 23/91 - 1
2-141665448-C-T c.3518G>A p.C1173Y Missense 22/91 - 1
2-141665452-G-T c.3514C>A p.L1172I Missense 22/91 - 1
2-141665458-C-T c.3508G>A p.G1170S Missense 22/91 - 1
2-141665473-C-T c.3493G>A p.D1165N Missense 22/91 - 1
2-141665473-C-G c.3493G>C p.D1165H Missense 22/91 - 1
2-141665482-C-G c.3484G>C p.D1162H Missense 22/91 - 2
2-141665482-C-T c.3484G>A p.D1162N Missense 22/91 - 1
2-141665483-C-G c.3483G>C p.K1161N Missense 22/91 - 1
2-141665483-C-A c.3483G>T p.K1161N Missense 22/91 - 1
2-141665490-C-A c.3476G>T p.G1159V Missense 22/91 - 1
2-141665509-G-A c.3457C>T p.P1153S Missense 22/91 - 1
2-141665523-G-T c.3443C>A p.S1148* Nonsense 22/91 - 1
2-141665526-G-C c.3440C>G p.T1147S Missense 22/91 - 1
2-141665527-T-A c.3439A>T p.T1147S Missense 22/91 - 1
2-141665550-G-T c.3416C>A p.P1139H Missense 22/91 - 1
2-141665553-G-T c.3413C>A p.P1138Q Missense 22/91 - 1
2-141665564-G-T c.3402C>A p.F1134L Missense 22/91 - 1
2-141665593-G-A c.3373C>T p.Q1125* Nonsense 22/91 - 1
2-141665595-T-C c.3371A>G p.D1124G Missense 22/91 - 1
2-141665599-C-T c.3367G>A p.E1123K Missense 22/91 - 1
2-141665601-C-T c.3365G>A p.C1122Y Missense 22/91 - 1
2-141665613-C-T c.3353G>A p.G1118E Missense 22/91 - 1
2-141665625-C-T c.3341G>A p.W1114* Nonsense 22/91 - 1
2-141665624-C-T c.3342G>A p.W1114* Nonsense 22/91 - 1
2-141665629-C-T c.3337G>A p.A1113T Missense 22/91 - 1
2-141665640-C-A c.3326G>T p.C1109F Missense 22/91 - 1
2-141668323-A-G c.3320-2677T>C - IntronicSNV - 21/90 1
2-141680532-A-G c.3319+2T>C - IntronicSNV - 21/90 1
2-141680545-C-G c.3308G>C p.C1103S Missense 21/91 - 1
2-141680545-C-A c.3308G>T p.C1103F Missense 21/91 - 1
2-141680548-G-A c.3305C>T p.S1102F Missense 21/91 - 2
2-141680558-T-G c.3295A>C p.T1099P Missense 21/91 - 1
2-141680563-T-G c.3290A>C p.H1097P Missense 21/91 - 1
2-141680567-C-T c.3286G>A p.D1096N Missense 21/91 - 1
2-141680567-C-A c.3286G>T p.D1096Y Missense 21/91 - 2
2-141680571-C-A c.3282G>T p.L1094F Missense 21/91 - 1
2-141680571-C-G c.3282G>C p.L1094F Missense 21/91 - 1
2-141680575-C-A c.3278G>T p.R1093L Missense 21/91 - 1
2-141680575-C-T c.3278G>A p.R1093Q Missense 21/91 - 1
2-141680578-A-G c.3275T>C p.I1092T Missense 21/91 - 1
2-141680582-T-C c.3271A>G p.T1091A Missense 21/91 - 1
2-141680585-C-A c.3268G>T p.G1090C Missense 21/91 - 1
2-141680594-C-T c.3259G>A p.G1087S Missense 21/91 - 1
2-141680603-C-T c.3250G>A p.D1084N Missense 21/91 - 1
2-141680619-G-C c.3234C>G p.D1078E Missense 21/91 - 1
2-141680621-C-T c.3232G>A p.D1078N Missense 21/91 - 1
2-141680630-C-T c.3223G>A p.G1075R Missense 21/91 - 1
2-141680638-C-T c.3215G>A p.R1072H Missense 21/91 - 1
2-141680638-C-G c.3215G>C p.R1072P Missense 21/91 - 1
2-141680639-G-A c.3214C>T p.R1072C Missense 21/91 - 2
2-141680641-C-T c.3212G>A p.W1071* Nonsense 21/91 - 1
2-141680654-C-T c.3199G>A p.V1067I Missense 21/91 - 1
2-141680665-T-A c.3188A>T p.D1063V Missense 21/91 - 1
2-141680666-C-T c.3187G>A p.D1063N Missense 21/91 - 1
2-141680666-C-A c.3187G>T p.D1063Y Missense 21/91 - 1
2-141680684-C-T c.3169G>A p.E1057K Missense 21/91 - 1
2-141680690-C-T c.3163G>A p.G1055R Missense 21/91 - 2
2-141680690-C-G c.3163G>C p.G1055R Missense 21/91 - 1
2-141680699-C-A c.3154G>T p.G1052C Missense 21/91 - 1
2-141680701-G-A c.3152C>T p.A1051V Missense 21/91 - 1
2-141680715-C-A c.3138G>T p.E1046D Missense 21/91 - 1
2-141707610-A-G c.3136+194T>C - IntronicSNV - 20/90 1
2-141707713-C-T c.3136+91G>A - IntronicSNV - 20/90 1
2-141707804-C-A c.3136G>T p.E1046* Nonsense 20/91 - 1
2-141707803-CCTT-C c.3134_3136del p.E1046del SpliceDonorDeletion 20/91 - 1
2-141707818-T-C c.3122A>G p.N1041S Missense 20/91 - 1
2-141707823-C-A c.3117G>T p.Q1039H Missense 20/91 - 2
2-141707823-C-G c.3117G>C p.Q1039H Missense 20/91 - 2
2-141707834-C-CTCACCATCACAGGCCCAAT c.3105_3106insATTGGGCCTGTGATGGTGA p.D1036Ifs*8 Frameshift 20/91 - 1
2-141707834-C-G c.3106G>C p.D1036H Missense 20/91 - 1
2-141707839-A-G c.3101T>C p.F1034S Missense 20/91 - 1
2-141707841-G-C c.3099C>G p.D1033E Missense 20/91 - 1
2-141707841-G-T c.3099C>A p.D1033E Missense 20/91 - 1
2-141707860-C-T c.3080G>A p.G1027D Missense 20/91 - 2
2-141707860-C-A c.3080G>T p.G1027V Missense 20/91 - 1
2-141707875-T-C c.3065A>G p.H1022R Missense 20/91 - 1
2-141707887-C-T c.3053G>A p.C1018Y Missense 20/91 - 1
2-141707890-C-A c.3050G>T p.R1017I Missense 20/91 - 1
2-141707893-C-T c.3047G>A p.G1016D Missense 20/91 - 1
2-141707918-C-A c.3022G>T p.D1008Y Missense 20/91 - 2
2-141707920-A-G c.3020T>C p.F1007S Missense 20/91 - 1
2-141707923-C-A c.3017G>T p.C1006F Missense 20/91 - 1
2-141707943-C-A c.2997G>T p.E999D Missense 20/91 - 1
2-141707955-G-T c.2985C>A p.D995E Missense 20/91 - 1
2-141707957-C-T c.2983G>A p.D995N Missense 20/91 - 1
2-141707959-C-T c.2981G>A p.G994E Missense 20/91 - 1
2-141707960-C-T c.2980G>A p.G994R Missense 20/91 - 1
2-141707960-C-CA c.2979dup p.G994Wfs*5 Frameshift 20/91 - 1
2-141707966-C-T c.2974G>A p.D992N Missense 20/91 - 2
2-141709419-T-G c.2968+10A>C - IntronicSNV - 19/90 1
2-141709427-G-C c.2968+2C>G - IntronicSNV - 19/90 1
2-141709435-C-T c.2962G>A p.D988N Missense 19/91 - 2
2-141709437-C-A c.2960G>T p.C987F Missense 19/91 - 1
2-141709453-T-C c.2944A>G p.S982G Missense 19/91 - 1
2-141709457-G-T c.2940C>A p.C980* Nonsense 19/91 - 1
2-141709464-C-T c.2933G>A p.G978E Missense 19/91 - 1
2-141709467-CT-C c.2929del p.S977Vfs*202 Frameshift 19/91 - 1
2-141709473-C-A c.2924G>T p.C975F Missense 19/91 - 1
2-141709480-A-T c.2917T>A p.F973I Missense 19/91 - 1
2-141709491-G-A c.2906C>T p.P969L Missense 19/91 - 1
2-141713645-A-C c.2888-4136T>G - IntronicSNV - 18/90 1
2-141717063-G-C c.2888-7554C>G - IntronicSNV - 18/90 1
2-141717063-G-T c.2888-7554C>A - IntronicSNV - 18/90 1
2-141717646-A-G c.2888-8137T>C - IntronicSNV - 18/90 1
2-141721142-A-T c.2888-11633T>A - IntronicSNV - 18/90 2
2-141729899-C-A c.2887+9830G>T - IntronicSNV - 18/90 1
2-141729899-C-G c.2887+9830G>C - IntronicSNV - 18/90 1
2-141731261-T-G c.2887+8468A>C - IntronicSNV - 18/90 1
2-141737303-C-T c.2887+2426G>A - IntronicSNV - 18/90 2
2-141739729-C-CAA c.2886_2887insTT p.E963Lfs*9 SpliceDonorInsertion 18/91 - 1
2-141739735-A-G c.2881T>C p.S961P Missense 18/91 - 1
2-141739737-G-A c.2879C>T p.A960V Missense 18/91 - 2
2-141739738-C-T c.2878G>A p.A960T Missense 18/91 - 1
2-141739753-G-A c.2863C>T p.Q955* Nonsense 18/91 - 1
2-141739756-C-A c.2860G>T p.D954Y Missense 18/91 - 1
2-141739758-C-T c.2858G>A p.G953D Missense 18/91 - 1
2-141739784-C-A c.2832G>T p.W944C Missense 18/91 - 1
2-141739798-T-TTGTCTGACCAGGGAGGAAGTCACAG c.2817_2818insCTGTGACTTCCTCCCTGGTCAGACA p.I940Lfs*2 Frameshift 18/91 - 1
2-141739800-C-A c.2816G>T p.C939F Missense 18/91 - 1
2-141739803-C-T c.2813G>A p.R938H Missense 18/91 - 2
2-141739803-C-A c.2813G>T p.R938L Missense 18/91 - 1
2-141739804-G-A c.2812C>T p.R938C Missense 18/91 - 1
2-141739813-C-T c.2803G>A p.G935R Missense 18/91 - 2
2-141739814-G-T c.2802C>A p.C934* Nonsense 18/91 - 1
2-141739820-A-C c.2796T>G p.F932L Missense 18/91 - 1
2-141739832-C-A c.2784G>T p.Q928H Missense 18/91 - 1
2-141747099-A-G c.2770+2T>C - IntronicSNV - 17/90 1
2-141747102-T-C c.2769A>G p.T923= Synonymous 17/91 - 1
2-141747102-T-A c.2769A>T p.T923= Synonymous 17/91 - 1
2-141747102-T-G c.2769A>C p.T923= Synonymous 17/91 - 1
2-141747114-A-C c.2757T>G p.N919K Missense 17/91 - 1
2-141747118-G-A c.2753C>T p.S918F Missense 17/91 - 1
2-141747128-C-T c.2743G>A p.E915K Missense 17/91 - 1
2-141747136-C-T c.2735G>A p.G912E Missense 17/91 - 1
2-141747151-C-A c.2720G>T p.G907V Missense 17/91 - 1
2-141747170-T-C c.2701A>G p.K901E Missense 17/91 - 1
2-141747181-C-T c.2690G>A p.R897H Missense 17/91 - 1
2-141747182-G-T c.2689C>A p.R897S Missense 17/91 - 1
2-141747182-G-A c.2689C>T p.R897C Missense 17/91 - 1
2-141747190-T-A c.2681A>T p.Q894L Missense 17/91 - 1
2-141747192-G-A c.2679C>T p.C893= Synonymous 17/91 - 1
2-141747194-A-C c.2677T>G p.C893G Missense 17/91 - 1
2-141747205-T-A c.2666A>T p.D889V Missense 17/91 - 1
2-141747214-C-A c.2657G>T p.C886F Missense 17/91 - 1
2-141747220-T-A c.2651A>T p.H884L Missense 17/91 - 1
2-141747224-T-C c.2647A>G p.N883D Missense 17/91 - 1
2-141747225-G-A c.2646C>T p.F882= Synonymous 17/91 - 1
2-141751461-C-A c.2644+103G>T - IntronicSNV - 16/90 1
2-141751461-C-T c.2644+103G>A - IntronicSNV - 16/90 1
2-141751563-C-T c.2644+1G>A - IntronicSNV - 16/90 1
2-141751565-G-T c.2643C>A p.C881* Nonsense 16/91 - 1
2-141751585-C-T c.2623G>A p.D875N Missense 16/91 - 1
2-141751592-G-A c.2616C>T p.D872= Synonymous 16/91 - 1
2-141751601-G-T c.2607C>A p.D869E Missense 16/91 - 2
2-141751606-C-T c.2602G>A p.D868N Missense 16/91 - 1
2-141751606-C-A c.2602G>T p.D868Y Missense 16/91 - 1
2-141751608-T-C c.2600A>G p.D867G Missense 16/91 - 1
2-141751609-C-T c.2599G>A p.D867N Missense 16/91 - 1
2-141751623-C-T c.2585G>A p.W862* Nonsense 16/91 - 1
2-141751622-C-T c.2586G>A p.W862* Nonsense 16/91 - 1
2-141751626-C-A c.2582G>T p.R861L Missense 16/91 - 1
2-141751626-C-T c.2582G>A p.R861Q Missense 16/91 - 1
2-141751627-G-A c.2581C>T p.R861W Missense 16/91 - 2
2-141751653-C-T c.2555G>A p.C852Y Missense 16/91 - 1
2-141751656-C-T c.2552G>A p.R851H Missense 16/91 - 1
2-141751657-G-A c.2551C>T p.R851C Missense 16/91 - 1
2-141751663-C-A c.2545G>T p.E849* Nonsense 16/91 - 1
2-141751668-G-C c.2540C>G p.A847G Missense 16/91 - 1
2-141751669-C-G c.2539G>C p.A847P Missense 16/91 - 1
2-141751674-C-T c.2534G>A p.C845Y Missense 16/91 - 1
2-141751676-T-C c.2532A>G p.I844M Missense 16/91 - 1
2-141751689-G-T c.2519C>A p.A840E Missense 16/91 - 1
2-141751695-C-T c.2513G>A p.G838E Missense 16/91 - 1
2-141751698-G-T c.2510C>A p.P837H Missense 16/91 - 1
2-141762904-A-T c.2503T>A p.F835I Missense 15/91 - 1
2-141762907-T-G c.2500A>C p.T834P Missense 15/91 - 1
2-141762915-G-T c.2492C>A p.T831K Missense 15/91 - 1
2-141762919-C-T c.2488G>A p.G830R Missense 15/91 - 1
2-141762927-T-A c.2480A>T p.D827V Missense 15/91 - 1
2-141762939-T-A c.2468A>T p.N823I Missense 15/91 - 1
2-141762942-T-G c.2465A>C p.D822A Missense 15/91 - 1
2-141762942-T-A c.2465A>T p.D822V Missense 15/91 - 1
2-141762945-G-A c.2462C>T p.A821V Missense 15/91 - 1
2-141762958-C-A c.2449G>T p.V817L Missense 15/91 - 1
2-141762961-G-A c.2446C>T p.R816W Missense 15/91 - 1
2-141762984-A-T c.2423T>A p.L808H Missense 15/91 - 1
2-141762987-G-A c.2420C>T p.T807I Missense 15/91 - 1
2-141762997-C-G c.2410G>C p.G804R Missense 15/91 - 1
2-141763011-C-T c.2396G>A p.R799Q Missense 15/91 - 1
2-141763012-G-A c.2395C>T p.R799* Nonsense 15/91 - 1
2-141763014-C-T c.2393G>A p.C798Y Missense 15/91 - 1
2-141763017-A-T c.2390T>A p.M797K Missense 15/91 - 1
2-141764815-A-G c.2381-1789T>C - IntronicSNV - 14/90 1
2-141771137-G-A c.2368C>T p.R790* Nonsense 14/91 - 2
2-141771147-A-C c.2358T>G p.I786M Missense 14/91 - 1
2-141771158-C-T c.2347G>A p.G783R Missense 14/91 - 1
2-141771158-C-G c.2347G>C p.G783R Missense 14/91 - 1
2-141771164-G-T c.2341C>A p.L781I Missense 14/91 - 1
2-141771187-A-T c.2318T>A p.L773* Nonsense 14/91 - 1
2-141771187-A-G c.2318T>C p.L773S Missense 14/91 - 1
2-141771193-A-ACCATTACATATG c.2309_2310insGGCATATGTAAT p.E770_V771insAYVM MultiAAMissense 14/91 - 1
2-141771206-T-C c.2299A>G p.I767V Missense 14/91 - 1
2-141771207-C-A c.2298G>T p.L766F Missense 14/91 - 1
2-141771224-T-C c.2281A>G p.I761V Missense 14/91 - 3
2-141771236-T-G c.2269A>C p.M757L Missense 14/91 - 1
2-141771236-T-A c.2269A>T p.M757L Missense 14/91 - 1
2-141771238-T-C c.2267A>G p.Y756C Missense 14/91 - 1
2-141771254-C-T c.2251G>A p.V751M Missense 14/91 - 1
2-141771268-T-C c.2237A>G p.H746R Missense 14/91 - 1
2-141771272-A-G c.2233T>C p.S745P Missense 14/91 - 1
2-141771278-C-T c.2227G>A p.G743R Missense 14/91 - 1
2-141771283-G-T c.2222C>A p.P741H Missense 14/91 - 1
2-141771283-G-A c.2222C>T p.P741L Missense 14/91 - 1
2-141771284-G-T c.2221C>A p.P741T Missense 14/91 - 1
2-141771298-CT-AG c.2206_2207inv p.R736L Missense 14/91 - 1
2-141773278-C-A c.2177G>T p.G726V Missense 13/91 - 1
2-141773282-T-A c.2173A>T p.N725Y Missense 13/91 - 1
2-141773300-TATGATCGTAATAGGC-T c.2140_2154del p.A714_H718del InFrameDeletion 13/91 - 1
2-141773306-C-T c.2149G>A p.D717N Missense 13/91 - 1
2-141773315-C-T c.2140G>A p.A714T Missense 13/91 - 1
2-141773319-A-C c.2136T>G p.C712W Missense 13/91 - 1
2-141773324-A-T c.2131T>A p.W711R Missense 13/91 - 1
2-141773338-G-C c.2117C>G p.T706S Missense 13/91 - 1
2-141773354-T-A c.2101A>T p.T701S Missense 13/91 - 1
2-141773355-T-TA c.2099dup p.L700Ffs*14 Frameshift 13/91 - 1
2-141773372-G-T c.2083C>A p.L695M Missense 13/91 - 1
2-141773386-A-G c.2069T>C p.V690A Missense 13/91 - 1
2-141773387-C-T c.2068G>A p.V690M Missense 13/91 - 1
2-141773399-G-A c.2056C>T p.R686W Missense 13/91 - 4
2-141773405-A-G c.2050T>C p.F684L Missense 13/91 - 1
2-141773403-G-T c.2052C>A p.F684L Missense 13/91 - 1
2-141773403-G-C c.2052C>G p.F684L Missense 13/91 - 1
2-141773407-C-A c.2048G>T p.G683V Missense 13/91 - 1
2-141773413-A-C c.2042T>G p.M681R Missense 13/91 - 1
2-141773415-C-G c.2040G>C p.W680C Missense 13/91 - 1
2-141773434-CCCA-C c.2018_2020del p.V673del InFrameDeletion 13/91 - 1
2-141773457-T-A c.1998A>T p.E666D Missense 13/91 - 1
2-141773459-C-T c.1996G>A p.E666K Missense 13/91 - 1
2-141773478-C-G c.1977G>C p.M659I Missense 13/91 - 1
2-141773478-C-T c.1977G>A p.M659I Missense 13/91 - 1
2-141773478-C-A c.1977G>T p.M659I Missense 13/91 - 1
2-141773481-C-T c.1974G>A p.W658* Nonsense 13/91 - 1
2-141773481-C-A c.1974G>T p.W658C Missense 13/91 - 1
2-141773481-C-G c.1974G>C p.W658C Missense 13/91 - 1
2-141777501-G-A c.1960C>T p.P654S Missense 12/91 - 1
2-141777504-C-T c.1957G>A p.D653N Missense 12/91 - 1
2-141777507-C-G c.1954G>C p.V652L Missense 12/91 - 1
2-141777507-C-A c.1954G>T p.V652L Missense 12/91 - 1
2-141777512-A-T c.1949T>A p.I650N Missense 12/91 - 1
2-141777516-C-T c.1945G>A p.G649R Missense 12/91 - 1
2-141777531-T-G c.1930A>C p.M644L Missense 12/91 - 1
2-141777531-T-A c.1930A>T p.M644L Missense 12/91 - 1
2-141777537-C-A c.1924G>T p.G642C Missense 12/91 - 1
2-141777541-TAA-T c.1918_1919del p.L640Rfs*3 Frameshift 12/91 - 1
2-141777554-C-T c.1907G>A p.R636Q Missense 12/91 - 2
2-141777555-G-A c.1906C>T p.R636W Missense 12/91 - 2
2-141777557-C-A c.1904G>T p.S635I Missense 12/91 - 1
2-141777563-G-C c.1898C>G p.S633C Missense 12/91 - 1
2-141777570-T-G c.1891A>C p.K631Q Missense 12/91 - 1
2-141777573-C-T c.1888G>A p.E630K Missense 12/91 - 1
2-141777578-CT-AG c.1882_1883inv p.R628L Missense 12/91 - 1
2-141777578-C-A c.1883G>T p.R628M Missense 12/91 - 1
2-141777598-CCT-ATG c.1861_1863delinsCAT p.R621H Missense 12/91 - 1
2-141777599-C-T c.1862G>A p.R621K Missense 12/91 - 1
2-141777605-C-G c.1856G>C p.G619A Missense 12/91 - 1
2-141777605-C-T c.1856G>A p.G619D Missense 12/91 - 1
2-141777606-C-A c.1855G>T p.G619C Missense 12/91 - 1
2-141777606-C-T c.1855G>A p.G619S Missense 12/91 - 1
2-141777609-C-T c.1852G>A p.D618N Missense 12/91 - 1
2-141777618-A-T c.1843T>A p.W615R Missense 12/91 - 1
2-141777619-G-C c.1842C>G p.Y614* Nonsense 12/91 - 1
2-141777646-A-T c.1815T>A p.A605= Synonymous 12/91 - 1
2-141777646-A-G c.1815T>C p.A605= Synonymous 12/91 - 1
2-141777646-A-C c.1815T>G p.A605= Synonymous 12/91 - 1
2-141777648-C-T c.1813G>A p.A605T Missense 12/91 - 1
2-141777654-C-T c.1807G>A p.G603S Missense 12/91 - 1
2-141777659-A-T c.1802T>A p.V601E Missense 12/91 - 1
2-141778702-G-A c.1790-1031C>T - IntronicSNV - 11/90 1
2-141795620-A-G c.1789+10935T>C - IntronicSNV - 11/90 5
2-141800073-C-T c.1789+6482G>A - IntronicSNV - 11/90 1
2-141806551-T-C c.1789+4A>G - IntronicSNV - 11/90 1
2-141806569-G-T c.1775C>A p.T592N Missense 11/91 - 1
2-141806585-C-G c.1759G>C p.G587R Missense 11/91 - 1
2-141806595-C-A c.1749G>T p.Q583H Missense 11/91 - 1
2-141806600-G-A c.1744C>T p.R582W Missense 11/91 - 1
2-141806627-GC-G c.1717del p.A573Lfs*7 Frameshift 11/91 - 1
2-141806631-G-T c.1713C>A p.Y571* Nonsense 11/91 - 1
2-141806649-T-C c.1695A>G p.A565= Synonymous 11/91 - 1
2-141806646-TTCTGCGTGAAAG-T c.1686_1697del p.D562_A565del InFrameDeletion 11/91 - 1
2-141806651-C-T c.1693G>A p.A565T Missense 11/91 - 1
2-141806652-G-T c.1692C>A p.H564Q Missense 11/91 - 1
2-141806669-G-A c.1675C>T p.R559C Missense 11/91 - 2
2-141806738-CTA-C c.1605_1606del p.G537Nfs*9 Frameshift 11/91 - 1
2-141806747-C-A c.1597G>T p.G533* Nonsense 11/91 - 1
2-141806752-C-T c.1592G>A p.R531H Missense 11/91 - 1
2-141806753-G-C c.1591C>G p.R531G Missense 11/91 - 1
2-141806762-C-A c.1582G>T p.G528W Missense 11/91 - 1
2-141806780-C-A c.1564G>T p.E522* Nonsense 11/91 - 1
2-141806782-T-C c.1562A>G p.N521S Missense 11/91 - 1
2-141807596-T-C c.1553-805A>G - IntronicSNV - 10/90 1
2-141812689-G-T c.1548C>A p.C516* Nonsense 10/91 - 1
2-141812693-G-T c.1544C>A p.S515* Nonsense 10/91 - 1
2-141812699-C-A c.1538G>T p.G513V Missense 10/91 - 1
2-141812699-C-T c.1538G>A p.G513D Missense 10/91 - 1
2-141812700-C-A c.1537G>T p.G513C Missense 10/91 - 1
2-141812712-A-C c.1525T>G p.L509V Missense 10/91 - 1
2-141812724-T-C c.1513A>G p.T505A Missense 10/91 - 1
2-141812732-C-T c.1505G>A p.R502H Missense 10/91 - 1
2-141812733-G-A c.1504C>T p.R502C Missense 10/91 - 1
2-141812738-G-T c.1499C>A p.T500N Missense 10/91 - 1
2-141812742-G-A c.1495C>T p.R499W Missense 10/91 - 2
2-141812773-G-A c.1464C>T p.H488= Synonymous 10/91 - 1
2-141812782-G-A c.1455C>T p.G485= Synonymous 10/91 - 1
2-141812782-G-C c.1455C>G p.G485= Synonymous 10/91 - 1
2-141812782-G-T c.1455C>A p.G485= Synonymous 10/91 - 1
2-141812783-C-T c.1454G>A p.G485D Missense 10/91 - 1
2-141812784-C-T c.1453G>A p.G485S Missense 10/91 - 1
2-141812801-G-A c.1436C>T p.P479L Missense 10/91 - 1
2-141812803-A-T c.1434T>A p.D478E Missense 10/91 - 1
2-141812805-C-T c.1432G>A p.D478N Missense 10/91 - 1
2-141812805-C-A c.1432G>T p.D478Y Missense 10/91 - 1
2-141812816-G-A c.1421C>T p.A474V Missense 10/91 - 1
2-141812816-G-T c.1421C>A p.A474E Missense 10/91 - 1
2-141816466-C-A c.1394G>T p.R465I Missense 9/91 - 1
2-141816482-G-A c.1378C>T p.R460* Nonsense 9/91 - 1
2-141816502-A-G c.1358T>C p.I453T Missense 9/91 - 1
2-141816504-T-G c.1356A>C p.K452N Missense 9/91 - 1
2-141816504-T-A c.1356A>T p.K452N Missense 9/91 - 1
2-141816510-T-A c.1350A>T p.L450F Missense 9/91 - 1
2-141816511-A-T c.1349T>A p.L450* Nonsense 9/91 - 1
2-141816511-A-C c.1349T>G p.L450* Nonsense 9/91 - 1
2-141816515-A-T c.1345T>A p.S449T Missense 9/91 - 1
2-141816529-C-T c.1331G>A p.G444E Missense 9/91 - 1
2-141816538-C-A c.1322G>T p.R441L Missense 9/91 - 1
2-141816539-G-A c.1321C>T p.R441* Nonsense 9/91 - 2
2-141816540-G-T c.1320C>A p.N440K Missense 9/91 - 1
2-141816545-T-G c.1315A>C p.I439L Missense 9/91 - 1
2-141816547-C-A c.1313G>T p.R438M Missense 9/91 - 1
2-141816551-C-T c.1309G>A p.V437I Missense 9/91 - 1
2-141816552-G-T c.1308C>A p.I436= Synonymous 9/91 - 1
2-141816552-G-A c.1308C>T p.I436= Synonymous 9/91 - 1
2-141816566-C-G c.1294G>C p.D432H Missense 9/91 - 1
2-141816582-C-T c.1278G>A p.L426= Synonymous 9/91 - 1
2-141816584-A-G c.1276T>C p.L426= Synonymous 9/91 - 1
2-141816601-G-T c.1259C>A p.T420N Missense 9/91 - 1
2-141816614-G-T c.1246C>A p.L416I Missense 9/91 - 1
2-141816620-T-A c.1240A>T p.R414* Nonsense 9/91 - 1
2-141816621-A-C c.1239T>G p.V413= Synonymous 9/91 - 1
2-141816621-A-T c.1239T>A p.V413= Synonymous 9/91 - 1
2-141819646-T-A c.1210A>T p.R404* Nonsense 8/91 - 1
2-141819652-T-C c.1204A>G p.K402E Missense 8/91 - 1
2-141819653-TC-T c.1202del p.G401Efs*19 Frameshift 8/91 - 1
2-141819658-G-A c.1198C>T p.Q400* Nonsense 8/91 - 1
2-141819666-A-G c.1190T>C p.V397A Missense 8/91 - 1
2-141819679-A-T c.1177T>A p.Y393N Missense 8/91 - 1
2-141819682-C-A c.1174G>T p.D392Y Missense 8/91 - 2
2-141819682-C-T c.1174G>A p.D392N Missense 8/91 - 1
2-141819686-G-T c.1170C>A p.Y390* Nonsense 8/91 - 1
2-141819690-A-C c.1166T>G p.L389R Missense 8/91 - 1
2-141819691-G-T c.1165C>A p.L389I Missense 8/91 - 2
2-141819694-C-A c.1162G>T p.D388Y Missense 8/91 - 1
2-141819715-T-A c.1141A>T p.N381Y Missense 8/91 - 1
2-141819721-G-T c.1135C>A p.L379I Missense 8/91 - 1
2-141819729-G-T c.1127C>A p.A376E Missense 8/91 - 1
2-141819756-G-C c.1100C>G p.S367* Nonsense 8/91 - 1
2-141819758-A-C c.1098T>G p.D366E Missense 8/91 - 1
2-141819760-C-A c.1096G>T p.D366Y Missense 8/91 - 1
2-141819774-C-T c.1082G>A p.R361Q Missense 8/91 - 1
2-141819784-C-A c.1072G>T p.G358W Missense 8/91 - 1
2-141819791-G-T c.1065C>A p.D355E Missense 8/91 - 1
2-141819797-T-G c.1059A>C p.R353S Missense 8/91 - 1
2-141819797-T-A c.1059A>T p.R353S Missense 8/91 - 1
2-141819798-C-G c.1058G>C p.R353T Missense 8/91 - 1
2-141819799-T-C c.1057A>G p.R353G Missense 8/91 - 1
2-141819809-G-T c.1047C>A p.A349= Synonymous 8/91 - 1
2-141819811-C-T c.1045G>A p.A349T Missense 8/91 - 1
2-141819813-A-G c.1043T>C p.V348A Missense 8/91 - 1
2-141819815-A-T c.1041T>A p.N347K Missense 8/91 - 1
2-141819819-C-T c.1037G>A p.G346E Missense 8/91 - 1
2-141819820-C-A c.1036G>T p.G346W Missense 8/91 - 1
2-141819820-C-T c.1036G>A p.G346R Missense 8/91 - 1
2-141819825-T-A c.1031A>T p.D344V Missense 8/91 - 1
2-141819832-A-T c.1024T>A p.F342I Missense 8/91 - 1
2-141819832-A-G c.1024T>C p.F342L Missense 8/91 - 1
2-141841920-T-A c.1014-22078A>T - IntronicSNV - 7/90 1
2-141841920-T-C c.1014-22078A>G - IntronicSNV - 7/90 1
2-141858424-T-C c.1014-38582A>G - IntronicSNV - 7/90 1
2-141861910-A-G c.1014-42068T>C - IntronicSNV - 7/90 1
2-141861910-A-T c.1014-42068T>A - IntronicSNV - 7/90 1
2-141878395-T-C c.1014-58553A>G - IntronicSNV - 7/90 1
2-141878501-C-A c.1014-58659G>T - IntronicSNV - 7/90 1
2-141882095-T-A c.1014-62253A>T - IntronicSNV - 7/90 1
2-141882963-G-A c.1013+63027C>T - IntronicSNV - 7/90 1
2-141905052-G-T c.1013+40938C>A - IntronicSNV - 7/90 1
2-141908304-C-T c.1013+37686G>A - IntronicSNV - 7/90 1
2-141921788-G-A c.1013+24202C>T - IntronicSNV - 7/90 2
2-141929225-G-A c.1013+16765C>T - IntronicSNV - 7/90 1
2-141932472-C-T c.1013+13518G>A - IntronicSNV - 7/90 1
2-141941819-G-A c.1013+4171C>T - IntronicSNV - 7/90 1
2-141942235-C-T c.1013+3755G>A - IntronicSNV - 7/90 1
2-141945999-G-C c.1004C>G p.P335R Missense 7/91 - 1
2-141945999-G-A c.1004C>T p.P335L Missense 7/91 - 1
2-141946006-C-G c.997G>C p.V333L Missense 7/91 - 1
2-141946006-C-A c.997G>T p.V333L Missense 7/91 - 1
2-141946021-G-C c.982C>G p.P328A Missense 7/91 - 1
2-141946041-A-C c.962T>G p.I321S Missense 7/91 - 1
2-141946059-G-C c.944C>G p.S315C Missense 7/91 - 1
2-141946063-C-A c.940G>T p.G314C Missense 7/91 - 1
2-141946063-C-T c.940G>A p.G314S Missense 7/91 - 1
2-141946063-C-G c.940G>C p.G314R Missense 7/91 - 1
2-141946069-A-G c.934T>C p.S312P Missense 7/91 - 1
2-141946076-A-G c.927T>C p.V309= Synonymous 7/91 - 1
2-141946077-A-G c.926T>C p.V309A Missense 7/91 - 1
2-141946079-A-G c.924T>C p.F308= Synonymous 7/91 - 1
2-141946082-G-A c.921C>T p.I307= Synonymous 7/91 - 1
2-141946086-C-T c.917G>A p.R306Q Missense 7/91 - 1
2-141946087-G-A c.916C>T p.R306W Missense 7/91 - 3
2-141946092-C-G c.911G>C p.G304A Missense 7/91 - 1
2-141946096-C-T c.907G>A p.V303I Missense 7/91 - 1
2-141946110-T-A c.893A>T p.Y298F Missense 7/91 - 1
2-141946119-C-A c.884G>T p.R295L Missense 7/91 - 1
2-141946119-C-T c.884G>A p.R295Q Missense 7/91 - 3
2-141946119-C-G c.884G>C p.R295P Missense 7/91 - 1
2-141946126-G-T c.877C>A p.L293I Missense 7/91 - 1
2-141946127-C-A c.876G>T p.W292C Missense 7/91 - 1
2-141946137-G-A c.866C>T p.A289V Missense 7/91 - 1
2-141946138-C-G c.865G>C p.A289P Missense 7/91 - 1
2-141962157-G-T c.851-16005C>A - IntronicSNV - 6/90 2
2-141986756-G-A c.846C>T p.F282= Synonymous 6/91 - 1
2-141986767-G-A c.835C>T p.L279F Missense 6/91 - 1
2-141986781-C-A c.821G>T p.W274L Missense 6/91 - 1
2-141986788-C-G c.814G>C p.D272H Missense 6/91 - 1
2-141986796-C-G c.806G>C p.G269A Missense 6/91 - 1
2-141986797-C-A c.805G>T p.G269* Nonsense 6/91 - 1
2-141986794-ATCC-A c.805_807del p.G269del InFrameDeletion 6/91 - 1
2-141986808-G-A c.794C>T p.T265I Missense 6/91 - 1
2-141986805-TTTG-T c.794_796del p.T265del InFrameDeletion 6/91 - 1
2-141986816-G-T c.786C>A p.I262= Synonymous 6/91 - 1
2-141986816-G-A c.786C>T p.I262= Synonymous 6/91 - 1
2-141986842-C-A c.760G>T p.E254* Nonsense 6/91 - 1
2-141986847-G-C c.755C>G p.S252* Nonsense 6/91 - 1
2-141986855-C-A c.747G>T p.W249C Missense 6/91 - 1
2-141986855-C-G c.747G>C p.W249C Missense 6/91 - 1
2-141986855-C-T c.747G>A p.W249* Nonsense 6/91 - 1
2-141986862-A-C c.740T>G p.I247S Missense 6/91 - 1
2-141986863-T-C c.739A>G p.I247V Missense 6/91 - 1
2-141986864-C-T c.738G>A p.M246I Missense 6/91 - 1
2-141986884-A-T c.718T>A p.F240I Missense 6/91 - 1
2-141986887-C-T c.715G>A p.D239N Missense 6/91 - 1
2-141986902-C-T c.700G>A p.E234K Missense 6/91 - 1
2-141986921-TAG-AAA c.679_681delinsTTT p.L227F Missense 6/91 - 1
2-141986972-A-C c.630T>G p.N210K Missense 6/91 - 1
2-141986972-A-T c.630T>A p.N210K Missense 6/91 - 1
2-141986983-A-G c.619T>C p.L207= Synonymous 6/91 - 1
2-141986981-T-C c.621A>G p.L207= Synonymous 6/91 - 1
2-141987007-G-A c.595C>T p.P199S Missense 6/91 - 1
2-142004793-A-G c.592+2T>C - IntronicSNV - 5/90 1
2-142004799-T-G c.588A>C p.K196N Missense 5/91 - 1
2-142004812-G-T c.575C>A p.S192Y Missense 5/91 - 2
2-142004815-C-G c.572G>C p.R191T Missense 5/91 - 1
2-142004828-G-T c.559C>A p.Q187K Missense 5/91 - 1
2-142004828-G-A c.559C>T p.Q187* Nonsense 5/91 - 1
2-142004831-T-C c.556A>G p.M186V Missense 5/91 - 1
2-142004840-C-T c.547G>A p.G183S Missense 5/91 - 1
2-142004846-C-T c.541G>A p.V181M Missense 5/91 - 2
2-142004852-T-A c.535A>T p.S179C Missense 5/91 - 1
2-142004870-G-C c.517C>G p.H173D Missense 5/91 - 1
2-142004885-T-C c.502A>G p.T168A Missense 5/91 - 1
2-142004895-T-C c.492A>G p.T164= Synonymous 5/91 - 1
2-142004895-T-A c.492A>T p.T164= Synonymous 5/91 - 1
2-142004895-T-G c.492A>C p.T164= Synonymous 5/91 - 1
2-142004900-C-T c.487G>A p.G163S Missense 5/91 - 1
2-142004918-C-A c.469G>T p.D157Y Missense 5/91 - 1
2-142012027-G-T c.463+64C>A - IntronicSNV - 4/90 2
2-142012049-C-A c.463+42G>T - IntronicSNV - 4/90 1
2-142012096-C-G c.458G>C p.C153S Missense 4/91 - 1
2-142012101-TCT-ATG c.451_453delinsCAT p.R151H Missense 4/91 - 1
2-142012109-C-T c.445G>A p.D149N Missense 4/91 - 1
2-142012112-C-T c.442G>A p.E148K Missense 4/91 - 1
2-142012116-T-C c.438A>G p.I146M Missense 4/91 - 1
2-142012117-A-T c.437T>A p.I146K Missense 4/91 - 1
2-142012121-C-T c.433G>A p.E145K Missense 4/91 - 3
2-142012127-C-T c.427G>A p.G143R Missense 4/91 - 1
2-142012133-C-A c.421G>T p.E141* Nonsense 4/91 - 1
2-142012144-C-A c.410G>T p.R137I Missense 4/91 - 1
2-142012153-T-C c.401A>G p.N134S Missense 4/91 - 1
2-142012156-C-T c.398G>A p.R133K Missense 4/91 - 1
2-142012161-C-T c.393G>A p.M131I Missense 4/91 - 2
2-142012161-C-G c.393G>C p.M131I Missense 4/91 - 1
2-142012161-C-A c.393G>T p.M131I Missense 4/91 - 1
2-142012182-A-C c.372T>G p.N124K Missense 4/91 - 1
2-142012182-A-T c.372T>A p.N124K Missense 4/91 - 1
2-142012188-C-A c.366G>T p.Q122H Missense 4/91 - 1
2-142012188-C-G c.366G>C p.Q122H Missense 4/91 - 1
2-142012195-C-A c.359G>T p.C120F Missense 4/91 - 1
2-142012686-T-C c.344-476A>G - IntronicSNV - 3/90 1
2-142015558-T-C c.344-3348A>G - IntronicSNV - 3/90 1
2-142077308-T-C c.344-65098A>G - IntronicSNV - 3/90 1
2-142082457-A-G c.344-70247T>C - IntronicSNV - 3/90 1
2-142086786-G-A c.344-74576C>T - IntronicSNV - 3/90 1
2-142108519-G-A c.344-96309C>T - IntronicSNV - 3/90 1
2-142146201-G-A c.343+91764C>T - IntronicSNV - 3/90 1
2-142149328-G-A c.343+88637C>T - IntronicSNV - 3/90 1
2-142167237-T-A c.343+70728A>T - IntronicSNV - 3/90 1
2-142173510-A-G c.343+64455T>C - IntronicSNV - 3/90 1
2-142174970-C-T c.343+62995G>A - IntronicSNV - 3/90 1
2-142186144-A-G c.343+51821T>C - IntronicSNV - 3/90 1
2-142193332-T-C c.343+44633A>G - IntronicSNV - 3/90 1
2-142198248-T-C c.343+39717A>G - IntronicSNV - 3/90 1
2-142198708-C-T c.343+39257G>A - IntronicSNV - 3/90 1
2-142199550-A-T c.343+38415T>A - IntronicSNV - 3/90 1
2-142200157-C-A c.343+37808G>T - IntronicSNV - 3/90 1
2-142200157-C-T c.343+37808G>A - IntronicSNV - 3/90 1
2-142200242-C-T c.343+37723G>A - IntronicSNV - 3/90 1
2-142200351-G-A c.343+37614C>T - IntronicSNV - 3/90 1
2-142212462-C-T c.343+25503G>A - IntronicSNV - 3/90 1
2-142212928-C-T c.343+25037G>A - IntronicSNV - 3/90 1
2-142213314-T-C c.343+24651A>G - IntronicSNV - 3/90 1
2-142222786-A-G c.343+15179T>C - IntronicSNV - 3/90 1
2-142222786-A-T c.343+15179T>A - IntronicSNV - 3/90 1
2-142225077-A-G c.343+12888T>C - IntronicSNV - 3/90 1
2-142225077-A-T c.343+12888T>A - IntronicSNV - 3/90 1
2-142227759-T-C c.343+10206A>G - IntronicSNV - 3/90 1
2-142228325-G-C c.343+9640C>G - IntronicSNV - 3/90 1
2-142228325-G-T c.343+9640C>A - IntronicSNV - 3/90 1
2-142228509-C-A c.343+9456G>T - IntronicSNV - 3/90 7
2-142228509-C-T c.343+9456G>A - IntronicSNV - 3/90 7
2-142229073-A-G c.343+8892T>C - IntronicSNV - 3/90 1
2-142235001-TCTCC-T c.343+2961_343+2964del - IntronicDeletion - 3/90 1
2-142237971-A-G c.337T>C p.C113R Missense 3/91 - 1
2-142237974-G-A c.334C>T p.H112Y Missense 3/91 - 1
2-142237982-T-C c.326A>G p.E109G Missense 3/91 - 1
2-142237983-C-T c.325G>A p.E109K Missense 3/91 - 3
2-142237986-C-G c.322G>C p.D108H Missense 3/91 - 1
2-142237991-C-T c.317G>A p.G106E Missense 3/91 - 1
2-142237992-C-A c.316G>T p.G106W Missense 3/91 - 1
2-142237995-C-G c.313G>C p.D105H Missense 3/91 - 1
2-142238000-C-A c.308G>T p.C103F Missense 3/91 - 1
2-142238010-C-A c.298G>T p.V100F Missense 3/91 - 1
2-142238020-CAG-GAT c.286_288delinsATC p.L96I Missense 3/91 - 1
2-142238027-G-C c.281C>G p.S94C Missense 3/91 - 1
2-142238027-G-A c.281C>T p.S94F Missense 3/91 - 1
2-142238063-A-C c.245T>G p.I82S Missense 3/91 - 1
2-142238078-C-A c.230G>T p.C77F Missense 3/91 - 1
2-142238085-T-C c.223A>G p.I75V Missense 3/91 - 1
2-142238099-G-A c.209C>T p.P70L Missense 3/91 - 1
2-142272774-G-A c.206-34672C>T - IntronicSNV - 2/90 2
2-142290620-G-A c.206-52518C>T - IntronicSNV - 2/90 1
2-142293146-C-A c.206-55044G>T - IntronicSNV - 2/90 5
2-142300935-T-A c.206-62833A>T - IntronicSNV - 2/90 2
2-142300935-T-G c.206-62833A>C - IntronicSNV - 2/90 2
2-142302503-G-T c.206-64401C>A - IntronicSNV - 2/90 1
2-142307179-C-T c.206-69077G>A - IntronicSNV - 2/90 1
2-142315346-T-C c.206-77244A>G - IntronicSNV - 2/90 1
2-142316255-A-G c.206-78153T>C - IntronicSNV - 2/90 1
2-142340858-C-G c.206-102756G>C - IntronicSNV - 2/90 1
2-142342699-A-G c.206-104597T>C - IntronicSNV - 2/90 1
2-142347455-A-G c.206-109353T>C - IntronicSNV - 2/90 1
2-142363876-T-C c.206-125774A>G - IntronicSNV - 2/90 1
2-142364839-C-T c.206-126737G>A - IntronicSNV - 2/90 1
2-142368703-A-G c.206-130601T>C - IntronicSNV - 2/90 1
2-142372652-G-C c.206-134550C>G - IntronicSNV - 2/90 1
2-142373446-C-T c.206-135344G>A - IntronicSNV - 2/90 1
2-142373458-A-G c.206-135356T>C - IntronicSNV - 2/90 1
2-142374378-A-G c.206-136276T>C - IntronicSNV - 2/90 1
2-142384387-G-A c.206-146285C>T - IntronicSNV - 2/90 1
2-142384798-T-C c.206-146696A>G - IntronicSNV - 2/90 1
2-142408609-C-A c.205+159239G>T - IntronicSNV - 2/90 1
2-142408609-C-T c.205+159239G>A - IntronicSNV - 2/90 1
2-142431131-T-G c.205+136717A>C - IntronicSNV - 2/90 1
2-142431131-T-A c.205+136717A>T - IntronicSNV - 2/90 1
2-142431131-T-C c.205+136717A>G - IntronicSNV - 2/90 1
2-142449381-T-C c.205+118467A>G - IntronicSNV - 2/90 1
2-142467610-C-T c.205+100238G>A - IntronicSNV - 2/90 1
2-142468472-C-T c.205+99376G>A - IntronicSNV - 2/90 1
2-142471700-T-C c.205+96148A>G - IntronicSNV - 2/90 1
2-142471700-T-G c.205+96148A>C - IntronicSNV - 2/90 1
2-142486253-G-A c.205+81595C>T - IntronicSNV - 2/90 1
2-142486401-A-G c.205+81447T>C - IntronicSNV - 2/90 1
2-142488592-G-A c.205+79256C>T - IntronicSNV - 2/90 1
2-142488592-G-T c.205+79256C>A - IntronicSNV - 2/90 1
2-142501896-C-T c.205+65952G>A - IntronicSNV - 2/90 1
2-142518974-A-C c.205+48874T>G - IntronicSNV - 2/90 1
2-142530945-G-T c.205+36903C>A - IntronicSNV - 2/90 1
2-142532418-A-G c.205+35430T>C - IntronicSNV - 2/90 1
2-142545909-G-C c.205+21939C>G - IntronicSNV - 2/90 1
2-142563275-G-A c.205+4573C>T - IntronicSNV - 2/90 1
2-142565292-C-T c.205+2556G>A - IntronicSNV - 2/90 1
2-142567863-C-T c.190G>A p.E64K Missense 2/91 - 2
2-142567863-C-A c.190G>T p.E64* Nonsense 2/91 - 1
2-142567868-G-T c.185C>A p.S62* Nonsense 2/91 - 1
2-142567868-G-C c.185C>G p.S62* Nonsense 2/91 - 1
2-142567875-C-T c.178G>A p.D60N Missense 2/91 - 1
2-142567880-C-A c.173G>T p.C58F Missense 2/91 - 1
2-142567903-C-T c.150G>A p.W50* Nonsense 2/91 - 1
2-142567905-A-C c.148T>G p.W50G Missense 2/91 - 1
2-142567910-T-C c.143A>G p.Q48R Missense 2/91 - 1
2-142567911-G-A c.142C>T p.Q48* Nonsense 2/91 - 1
2-142567912-G-A c.141C>T p.S47= Synonymous 2/91 - 1
2-142567913-G-A c.140C>T p.S47F Missense 2/91 - 1
2-142567914-A-G c.139T>C p.S47P Missense 2/91 - 2
2-142567927-G-A c.126C>T p.H42= Synonymous 2/91 - 1
2-142567928-T-A c.125A>T p.H42L Missense 2/91 - 1
2-142567929-G-A c.124C>T p.H42Y Missense 2/91 - 1
2-142567932-C-T c.121G>A p.D41N Missense 2/91 - 1
2-142567939-A-C c.114T>G p.L38= Synonymous 2/91 - 1
2-142567939-A-T c.114T>A p.L38= Synonymous 2/91 - 1
2-142567939-A-G c.114T>C p.L38= Synonymous 2/91 - 1
2-142567941-G-A c.112C>T p.L38F Missense 2/91 - 1
2-142567941-G-T c.112C>A p.L38I Missense 2/91 - 1
2-142567953-G-A c.100C>T p.P34S Missense 2/91 - 1
2-142567963-CTG-GTC c.88_90delinsGAC p.Q30D Missense 2/91 - 1
2-142567963-C-T c.90G>A p.Q30= Synonymous 2/91 - 1
2-142575178-C-G c.83-7208G>C - IntronicSNV - 1/90 1
2-142582263-G-T c.83-14293C>A - IntronicSNV - 1/90 1
2-142602912-A-C c.83-34942T>G - IntronicSNV - 1/90 2
2-142615136-G-A c.83-47166C>T - IntronicSNV - 1/90 3
2-142615136-G-C c.83-47166C>G - IntronicSNV - 1/90 3
2-142636357-C-A c.83-68387G>T - IntronicSNV - 1/90 2
2-142636460-A-G c.83-68490T>C - IntronicSNV - 1/90 1
2-142654787-G-A c.83-86817C>T - IntronicSNV - 1/90 1
2-142668682-A-T c.83-100712T>A - IntronicSNV - 1/90 1
2-142702456-C-T c.83-134486G>A - IntronicSNV - 1/90 1
2-142748812-C-A c.82+139405G>T - IntronicSNV - 1/90 1
2-142748812-C-T c.82+139405G>A - IntronicSNV - 1/90 1
2-142752010-T-C c.82+136207A>G - IntronicSNV - 1/90 1
2-142767433-C-T c.82+120784G>A - IntronicSNV - 1/90 1
2-142784277-C-T c.82+103940G>A - IntronicSNV - 1/90 1
2-142801941-T-C c.82+86276A>G - IntronicSNV - 1/90 1
2-142808316-G-C c.82+79901C>G - IntronicSNV - 1/90 1
2-142808316-G-T c.82+79901C>A - IntronicSNV - 1/90 1
2-142827908-C-A c.82+60309G>T - IntronicSNV - 1/90 1
2-142855291-G-A c.82+32926C>T - IntronicSNV - 1/90 2
2-142874787-A-C c.82+13430T>G - IntronicSNV - 1/90 1
2-142882593-A-C c.82+5624T>G - IntronicSNV - 1/90 1
2-142888162-C-T c.82+55G>A - IntronicSNV - 1/90 1
2-142888180-A-T c.82+37T>A - IntronicSNV - 1/90 1
2-142888224-GGC-TTG c.73_75delinsCAA p.A25Q Missense 1/91 - 1
2-142888233-G-C c.66C>G p.T22= Synonymous 1/91 - 1
2-142888235-T-C c.64A>G p.T22A Missense 1/91 - 1
2-142888242-CCCT-C c.55_57del p.R19del InFrameDeletion 1/91 - 1
2-142888245-G-T c.54C>A p.A18= Synonymous 1/91 - 1
2-142888246-GC-CA c.52_53delinsTG p.A18C Missense 1/91 - 1
2-142888247-C-A c.52G>T p.A18S Missense 1/91 - 1
2-142888248-AAT-TTG c.49_51delinsCAA p.I17Q Missense 1/91 - 2
2-142888257-T-C c.42A>G p.L14= Synonymous 1/91 - 1
2-142888260-TC-GT c.38_39delinsAC p.G13D Missense 1/91 - 1
2-142888260-TCC-GTT c.37_39delinsAAC p.G13N Missense 1/91 - 1
2-142888261-C-T c.38G>A p.G13E Missense 1/91 - 1
2-142888279-G-C c.20C>G p.A7G Missense 1/91 - 1
2-142888291-T-G c.8A>C p.E3A Missense 1/91 - 1
2-142888376-G-C c.-78C>G - 5-UTRSNV 1/91 - 1
2-142888376-G-T c.-78C>A - 5-UTRSNV 1/91 - 1