FAT1 FAT atypical cadherin 1

Annotation transcript: NM_005245.4

1623 unique variant annotations were identified in 372 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
4-187509492-C-T c.*254G>A - 3-UTRSNV 27/27 - 1
4-187509786-G-A c.13727C>T p.T4576M Missense 27/27 - 1
4-187509796-C-T c.13717G>A p.E4573K Missense 27/27 - 1
4-187509814-C-T c.13699G>A p.G4567R Missense 27/27 - 1
4-187509830-C-A c.13683G>T p.M4561I Missense 27/27 - 1
4-187509839-C-A c.13674G>T p.E4558D Missense 27/27 - 1
4-187509839-C-G c.13674G>C p.E4558D Missense 27/27 - 1
4-187509841-C-T c.13672G>A p.E4558K Missense 27/27 - 2
4-187509861-G-C c.13652C>G p.A4551G Missense 27/27 - 4
4-187509862-C-T c.13651G>A p.A4551T Missense 27/27 - 1
4-187509885-GTGGAGGCGTACACAGACA-G c.13610_13627del p.M4537_S4542del InFrameDeletion 27/27 - 1
4-187509892-C-T c.13621G>A p.A4541T Missense 27/27 - 1
4-187509905-G-A c.13608C>T p.P4536= Synonymous 27/27 - 1
4-187509905-G-C c.13608C>G p.P4536= Synonymous 27/27 - 1
4-187509905-G-T c.13608C>A p.P4536= Synonymous 27/27 - 1
4-187509906-G-C c.13607C>G p.P4536R Missense 27/27 - 1
4-187509909-A-T c.13604T>A p.M4535K Missense 27/27 - 1
4-187509915-T-C c.13598A>G p.E4533G Missense 27/27 - 1
4-187509923-G-A c.13590C>T p.P4530= Synonymous 27/27 - 1
4-187509923-G-C c.13590C>G p.P4530= Synonymous 27/27 - 1
4-187509923-G-T c.13590C>A p.P4530= Synonymous 27/27 - 1
4-187509961-G-A c.13552C>T p.P4518S Missense 27/27 - 2
4-187509973-C-A c.13540G>T p.E4514* Nonsense 27/27 - 1
4-187509973-C-G c.13540G>C p.E4514Q Missense 27/27 - 1
4-187509981-G-A c.13532C>T p.T4511I Missense 27/27 - 2
4-187509992-A-C c.13521T>G p.G4507= Synonymous 27/27 - 1
4-187509992-A-G c.13521T>C p.G4507= Synonymous 27/27 - 1
4-187509992-A-T c.13521T>A p.G4507= Synonymous 27/27 - 1
4-187510015-C-A c.13498G>T p.E4500* Nonsense 27/27 - 1
4-187510029-G-A c.13484C>T p.P4495L Missense 27/27 - 1
4-187510037-A-C c.13476T>G p.N4492K Missense 27/27 - 1
4-187510037-A-T c.13476T>A p.N4492K Missense 27/27 - 1
4-187510101-G-A c.13412C>T p.A4471V Missense 27/27 - 1
4-187510108-G-A c.13405C>T p.P4469S Missense 27/27 - 2
4-187510108-G-T c.13405C>A p.P4469T Missense 27/27 - 1
4-187510141-G-A c.13372C>T p.Q4458* Nonsense 27/27 - 1
4-187510153-C-T c.13360G>A p.E4454K Missense 27/27 - 3
4-187510157-C-G c.13356G>C p.P4452= Synonymous 27/27 - 1
4-187510158-G-T c.13355C>A p.P4452Q Missense 27/27 - 1
4-187510213-C-T c.13300G>A p.D4434N Missense 27/27 - 1
4-187510216-T-G c.13297A>C p.S4433R Missense 27/27 - 1
4-187510219-C-A c.13294G>T p.E4432* Nonsense 27/27 - 1
4-187510219-C-T c.13294G>A p.E4432K Missense 27/27 - 2
4-187510237-G-A c.13276C>T p.P4426S Missense 27/27 - 1
4-187510258-C-A c.13255G>T p.A4419S Missense 27/27 - 2
4-187510258-C-T c.13255G>A p.A4419T Missense 27/27 - 1
4-187510264-G-T c.13249C>A p.P4417T Missense 27/27 - 1
4-187510265-A-C c.13248T>G p.D4416E Missense 27/27 - 1
4-187510265-A-T c.13248T>A p.D4416E Missense 27/27 - 1
4-187510285-GTCTGCTCATCAATCACCT-G c.13211_13228del p.E4404_T4410delinsA MultiAAMissense 27/27 - 1
4-187510329-G-A c.13184C>T p.P4395L Missense 27/27 - 1
4-187510357-A-G c.13156T>C p.S4386P Missense 27/27 - 1
4-187510360-T-C c.13153A>G p.T4385A Missense 27/27 - 1
4-187513805-G-A c.13138+3038C>T - IntronicSNV - 26/26 1
4-187516655-T-A c.13138+188A>T - IntronicSNV - 26/26 1
4-187516655-T-G c.13138+188A>C - IntronicSNV - 26/26 1
4-187516845-T-C c.13136A>G p.N4379S Missense 26/27 - 1
4-187516852-C-T c.13129G>A p.D4377N Missense 26/27 - 1
4-187516861-C-T c.13120G>A p.E4374K Missense 26/27 - 1
4-187516866-T-A c.13115A>T p.Q4372L Missense 26/27 - 1
4-187516866-T-G c.13115A>C p.Q4372P Missense 26/27 - 1
4-187516869-AAGG-A c.13109_13111del p.S4370del InFrameDeletion 26/27 - 1
4-187516873-A-G c.13108T>C p.S4370P Missense 26/27 - 1
4-187516874-G-T c.13107C>A p.S4369R Missense 26/27 - 1
4-187516878-A-G c.13103T>C p.L4368P Missense 26/27 - 1
4-187516880-A-G c.13101T>C p.S4367= Synonymous 26/27 - 2
4-187516880-A-T c.13101T>C p.S4367= Synonymous 26/27 - 1
4-187516905-C-A c.13076G>T p.R4359L Missense 26/27 - 1
4-187516905-C-T c.13076G>A p.R4359Q Missense 26/27 - 1
4-187516906-G-A c.13075C>T p.R4359W Missense 26/27 - 1
4-187516927-G-A c.13054C>T p.P4352S Missense 26/27 - 1
4-187516936-C-A c.13045G>T p.E4349* Nonsense 26/27 - 1
4-187516941-G-T c.13040C>A p.P4347H Missense 26/27 - 1
4-187516943-C-A c.13038G>T p.K4346N Missense 26/27 - 1
4-187516947-T-G c.13034A>C p.K4345T Missense 26/27 - 1
4-187516956-C-T c.13025G>A p.C4342Y Missense 26/27 - 1
4-187516959-G-A c.13022C>T p.P4341L Missense 26/27 - 1
4-187516962-T-C c.13019A>G p.D4340G Missense 26/27 - 1
4-187516963-C-T c.13018G>A p.D4340N Missense 26/27 - 1
4-187517703-C-A c.12991G>T p.D4331Y Missense 25/27 - 1
4-187517709-C-T c.12985G>A p.D4329N Missense 25/27 - 3
4-187517710-C-T c.12984G>A p.W4328* Nonsense 25/27 - 1
4-187517733-C-T c.12961G>A p.D4321N Missense 25/27 - 1
4-187517741-G-A c.12953C>T p.S4318F Missense 25/27 - 1
4-187517753-G-A c.12941C>T p.S4314L Missense 25/27 - 1
4-187517758-G-A c.12936C>T p.P4312= Synonymous 25/27 - 1
4-187517760-G-A c.12934C>T p.P4312S Missense 25/27 - 1
4-187517761-T-A c.12933A>T p.P4311= Synonymous 25/27 - 1
4-187517761-T-C c.12933A>G p.P4311= Synonymous 25/27 - 1
4-187517761-T-G c.12933A>C p.P4311= Synonymous 25/27 - 1
4-187517765-G-A c.12929C>T p.P4310L Missense 25/27 - 2
4-187517766-G-A c.12928C>T p.P4310S Missense 25/27 - 1
4-187517769-G-C c.12925C>G p.P4309A Missense 25/27 - 2
4-187517769-G-GC c.12924dup p.P4309Afs*11 Frameshift 25/27 - 1
4-187517773-G-C c.12921C>G p.N4307K Missense 25/27 - 1
4-187517773-G-T c.12921C>A p.N4307K Missense 25/27 - 1
4-187517780-G-A c.12914C>T p.A4305V Missense 25/27 - 2
4-187517784-C-T c.12910G>A p.V4304M Missense 25/27 - 3
4-187517787-T-A c.12907A>T p.S4303C Missense 25/27 - 1
4-187517795-G-A c.12899C>T p.A4300V Missense 25/27 - 1
4-187517796-C-T c.12898G>A p.A4300T Missense 25/27 - 1
4-187517799-C-A c.12895G>T p.V4299L Missense 25/27 - 1
4-187517807-C-T c.12887G>A p.R4296Q Missense 25/27 - 1
4-187517808-G-A c.12886C>T p.R4296* Nonsense 25/27 - 1
4-187517814-C-A c.12880G>T p.G4294W Missense 25/27 - 1
4-187517826-C-CG c.12867dup p.E4290Rfs*30 Frameshift 25/27 - 2
4-187517847-C-G c.12847G>C p.E4283Q Missense 25/27 - 1
4-187517847-C-T c.12847G>A p.E4283K Missense 25/27 - 1
4-187517848-G-A c.12846C>T p.P4282= Synonymous 25/27 - 2
4-187517858-G-A c.12836C>T p.P4279L Missense 25/27 - 1
4-187517886-G-A c.12808C>T p.R4270* Nonsense 25/27 - 1
4-187517903-G-A c.12791C>T p.S4264L Missense 25/27 - 1
4-187517921-G-T c.12773C>A p.P4258Q Missense 25/27 - 1
4-187517922-G-A c.12772C>T p.P4258S Missense 25/27 - 1
4-187517929-G-A c.12765C>T p.S4255= Synonymous 25/27 - 1
4-187517929-G-C c.12765C>G p.S4255= Synonymous 25/27 - 1
4-187517929-G-T c.12765C>A p.S4255= Synonymous 25/27 - 1
4-187517940-G-A c.12754C>T p.R4252W Missense 25/27 - 1
4-187517942-A-G c.12752T>C p.V4251A Missense 25/27 - 1
4-187517956-T-A c.12738A>T p.P4246= Synonymous 25/27 - 1
4-187517956-T-C c.12738A>G p.P4246= Synonymous 25/27 - 1
4-187517956-T-G c.12738A>C p.P4246= Synonymous 25/27 - 1
4-187517999-T-C c.12695A>G p.Y4232C Missense 25/27 - 2
4-187518002-G-A c.12692C>T p.P4231L Missense 25/27 - 1
4-187518018-C-T c.12676G>A p.A4226T Missense 25/27 - 2
4-187518020-G-A c.12674C>T p.T4225M Missense 25/27 - 1
4-187518023-G-C c.12671C>G p.A4224G Missense 25/27 - 1
4-187518024-C-T c.12670G>A p.A4224T Missense 25/27 - 2
4-187518030-C-T c.12664G>A p.G4222R Missense 25/27 - 1
4-187518041-T-C c.12653A>G p.D4218G Missense 25/27 - 3
4-187518053-G-T c.12641C>A p.A4214D Missense 25/27 - 1
4-187518072-G-A c.12622C>T p.R4208W Missense 25/27 - 5
4-187518079-C-A c.12615G>T p.M4205I Missense 25/27 - 1
4-187518079-C-G c.12615G>C p.M4205I Missense 25/27 - 1
4-187518079-C-T c.12615G>A p.M4205I Missense 25/27 - 1
4-187518086-C-T c.12608G>A p.R4203H Missense 25/27 - 1
4-187518087-G-A c.12607C>T p.R4203C Missense 25/27 - 1
4-187518087-G-C c.12607C>G p.R4203G Missense 25/27 - 1
4-187518138-C-A c.12556G>T p.V4186F Missense 25/27 - 1
4-187518138-C-T c.12556G>A p.V4186I Missense 25/27 - 1
4-187518153-C-T c.12541G>A p.E4181K Missense 25/27 - 2
4-187518156-C-T c.12538G>A p.A4180T Missense 25/27 - 1
4-187518163-A-C c.12531T>G p.I4177M Missense 25/27 - 1
4-187518169-C-T c.12525G>A p.W4175* Nonsense 25/27 - 2
4-187518170-C-T c.12524G>A p.W4175* Nonsense 25/27 - 1
4-187518173-G-A c.12521C>T p.P4174L Missense 25/27 - 1
4-187518176-G-A c.12518C>T p.T4173M Missense 25/27 - 1
4-187518179-G-T c.12515C>A p.S4172Y Missense 25/27 - 1
4-187518195-G-A c.12499C>T p.P4167S Missense 25/27 - 2
4-187518237-A-G c.12457T>C p.C4153R Missense 25/27 - 1
4-187518259-C-T c.12435G>A p.T4145= Synonymous 25/27 - 1
4-187518273-G-C c.12421C>G p.L4141V Missense 25/27 - 1
4-187518279-C-T c.12415G>A p.G4139R Missense 25/27 - 1
4-187518323-C-T c.12371G>A p.C4124Y Missense 25/27 - 1
4-187518842-C-T c.12362G>A p.G4121E Missense 24/27 - 1
4-187518843-C-G c.12361G>C p.G4121R Missense 24/27 - 1
4-187518843-C-T c.12361G>A p.G4121R Missense 24/27 - 1
4-187518844-C-T c.12360G>A p.R4120= Synonymous 24/27 - 1
4-187518846-T-G c.12358A>C p.R4120= Synonymous 24/27 - 1
4-187518846-T-A c.12358A>T p.R4120W Missense 24/27 - 1
4-187518873-C-T c.12331G>A p.A4111T Missense 24/27 - 1
4-187518876-C-G c.12328G>C p.G4110R Missense 24/27 - 1
4-187518900-C-T c.12304G>A p.G4102R Missense 24/27 - 1
4-187518909-T-A c.12295A>T p.K4099* Nonsense 24/27 - 1
4-187518912-CA-C c.12292del p.C4098Vfs*108 Frameshift 24/27 - 1
4-187518916-T-G c.12288A>C p.E4096D Missense 24/27 - 1
4-187518921-C-A c.12283G>T p.D4095Y Missense 24/27 - 1
4-187518925-G-T c.12279C>A p.C4093* Nonsense 24/27 - 1
4-187518926-C-T c.12278G>A p.C4093Y Missense 24/27 - 1
4-187518976-C-T c.12258-30G>A - IntronicSNV - 23/26 2
4-187519137-A-C c.12246T>G p.Y4082* Nonsense 23/27 - 1
4-187519137-A-T c.12246T>A p.Y4082* Nonsense 23/27 - 1
4-187519145-C-A c.12238G>T p.G4080* Nonsense 23/27 - 1
4-187519175-C-T c.12208G>A p.D4070N Missense 23/27 - 2
4-187519186-G-A c.12197C>T p.T4066M Missense 23/27 - 1
4-187519188-G-GC c.12194dup p.T4066Hfs*14 Frameshift 23/27 - 1
4-187519198-A-C c.12185T>G p.L4062R Missense 23/27 - 1
4-187519206-C-A c.12177G>T p.K4059N Missense 23/27 - 4
4-187519206-C-G c.12177G>C p.K4059N Missense 23/27 - 4
4-187519219-G-A c.12164C>T p.P4055L Missense 23/27 - 1
4-187519220-G-A c.12163C>T p.P4055S Missense 23/27 - 1
4-187519226-C-T c.12157G>A p.V4053I Missense 23/27 - 1
4-187519247-CTA-C c.12134_12135del p.I4045Rfs*5 Frameshift 23/27 - 1
4-187519252-T-C c.12131A>G p.Y4044C Missense 23/27 - 2
4-187519254-C-A c.12129G>T p.L4043F Missense 23/27 - 1
4-187519254-C-G c.12129G>C p.L4043F Missense 23/27 - 1
4-187519272-G-T c.12111C>A p.Y4037* Nonsense 23/27 - 1
4-187521037-C-A c.12103+15G>T - IntronicSNV - 22/26 2
4-187521037-C-T c.12103+15G>A - IntronicSNV - 22/26 2
4-187521063-G-C c.12092C>G p.S4031* Nonsense 22/27 - 1
4-187521063-G-T c.12092C>A p.S4031* Nonsense 22/27 - 1
4-187521064-A-G c.12091T>C p.S4031P Missense 22/27 - 1
4-187521103-C-A c.12052G>T p.A4018S Missense 22/27 - 1
4-187521103-C-T c.12052G>A p.A4018T Missense 22/27 - 1
4-187521135-G-T c.12020C>A p.P4007Q Missense 22/27 - 1
4-187521154-C-A c.12001G>T p.E4001* Nonsense 22/27 - 1
4-187521157-C-T c.11998G>A p.E4000K Missense 22/27 - 3
4-187521174-C-T c.11981G>A p.R3994K Missense 22/27 - 1
4-187521202-TG-T c.11953del p.Q3985Rfs*5 Frameshift 22/27 - 1
4-187521211-A-C c.11944T>G p.L3982V Missense 22/27 - 1
4-187521228-C-T c.11927G>A p.C3976Y Missense 22/27 - 1
4-187521250-C-T c.11905G>A p.V3969I Missense 22/27 - 2
4-187521253-G-C c.11902C>G p.Q3968E Missense 22/27 - 1
4-187521265-C-A c.11890G>T p.G3964* Nonsense 22/27 - 1
4-187521268-G-T c.11887C>A p.H3963N Missense 22/27 - 1
4-187521273-G-T c.11882C>A p.T3961K Missense 22/27 - 1
4-187521277-C-T c.11878G>A p.G3960R Missense 22/27 - 1
4-187521278-C-A c.11877G>T p.Q3959H Missense 22/27 - 1
4-187521278-C-G c.11877G>C p.Q3959H Missense 22/27 - 1
4-187521280-G-A c.11875C>T p.Q3959* Nonsense 22/27 - 1
4-187521286-G-A c.11869C>T p.R3957C Missense 22/27 - 1
4-187521295-C-A c.11860G>T p.G3954C Missense 22/27 - 1
4-187521303-AAC-A c.11850_11851del p.F3952Wfs*19 Frameshift 22/27 - 1
4-187521307-CAT-C c.11846_11847del p.Y3949Cfs*22 Frameshift 22/27 - 1
4-187521312-T-G c.11843A>C p.N3948T Missense 22/27 - 1
4-187521337-T-C c.11818A>G p.T3940A Missense 22/27 - 4
4-187521341-T-C c.11814A>G p.P3938= Synonymous 22/27 - 1
4-187521343-G-A c.11812C>T p.P3938S Missense 22/27 - 2
4-187521351-C-A c.11804G>T p.G3935V Missense 22/27 - 1
4-187521354-G-A c.11801C>T p.S3934L Missense 22/27 - 2
4-187521370-G-T c.11785C>A p.Q3929K Missense 22/27 - 2
4-187521373-C-T c.11782G>A p.D3928N Missense 22/27 - 1
4-187521381-AAGCGAGC-A c.11767_11773del p.A3923Wfs*3 Frameshift 22/27 - 1
4-187521384-C-A c.11771G>T p.R3924L Missense 22/27 - 1
4-187521384-C-T c.11771G>A p.R3924H Missense 22/27 - 1
4-187521398-A-G c.11757T>C p.N3919= Synonymous 22/27 - 1
4-187521406-C-T c.11749G>A p.E3917K Missense 22/27 - 2
4-187521408-A-C c.11747T>G p.L3916R Missense 22/27 - 1
4-187521417-G-A c.11738C>T p.A3913V Missense 22/27 - 1
4-187521435-T-C c.11720A>G p.N3907S Missense 22/27 - 1
4-187521442-G-A c.11713C>T p.Q3905* Nonsense 22/27 - 1
4-187521451-G-A c.11704C>T p.Q3902* Nonsense 22/27 - 1
4-187521476-TC-T c.11678del p.G3893Efs*26 Frameshift 22/27 - 2
4-187521491-G-C c.11664C>G p.Y3888* Nonsense 22/27 - 1
4-187521496-G-A c.11659C>T p.Q3887* Nonsense 22/27 - 1
4-187521505-C-A c.11650G>T p.G3884* Nonsense 22/27 - 1
4-187522448-C-T c.11615G>A p.R3872Q Missense 21/27 - 2
4-187522449-G-A c.11614C>T p.R3872* Nonsense 21/27 - 4
4-187522475-G-C c.11588C>G p.S3863C Missense 21/27 - 1
4-187522477-A-C c.11586T>G p.Y3862* Nonsense 21/27 - 1
4-187522477-A-T c.11586T>A p.Y3862* Nonsense 21/27 - 1
4-187522484-C-T c.11579G>A p.R3860K Missense 21/27 - 1
4-187522507-C-A c.11556G>T p.E3852D Missense 21/27 - 1
4-187522507-C-G c.11556G>C p.E3852D Missense 21/27 - 2
4-187522509-C-A c.11554G>T p.E3852* Nonsense 21/27 - 1
4-187522529-G-A c.11534C>T p.T3845M Missense 21/27 - 1
4-187522536-G-A c.11527C>T p.R3843C Missense 21/27 - 1
4-187522566-T-C c.11497A>G p.T3833A Missense 21/27 - 1
4-187522580-C-T c.11483G>A p.G3828E Missense 21/27 - 1
4-187524068-C-T c.11471G>A p.G3824D Missense 20/27 - 1
4-187524074-C-A c.11465G>T p.R3822M Missense 20/27 - 1
4-187524078-C-A c.11461G>T p.G3821C Missense 20/27 - 1
4-187524081-T-G c.11458A>C p.S3820R Missense 20/27 - 1
4-187524095-G-C c.11444C>G p.T3815S Missense 20/27 - 1
4-187524099-G-A c.11440C>T p.H3814Y Missense 20/27 - 2
4-187524129-C-A c.11410G>T p.E3804* Nonsense 20/27 - 1
4-187524138-C-T c.11401G>A p.E3801K Missense 20/27 - 1
4-187524171-C-T c.11368G>A p.V3790I Missense 20/27 - 1
4-187524328-A-G c.11350+2T>C - IntronicSNV - 19/26 1
4-187524330-C-A c.11350G>T p.E3784* Nonsense 19/27 - 1
4-187524337-G-A c.11343C>T p.L3781= Synonymous 19/27 - 1
4-187524341-C-T c.11339G>A p.C3780Y Missense 19/27 - 2
4-187524363-G-A c.11317C>T p.R3773C Missense 19/27 - 1
4-187524383-C-A c.11297G>T p.R3766I Missense 19/27 - 1
4-187524387-C-T c.11293G>A p.A3765T Missense 19/27 - 1
4-187524435-C-T c.11245G>A p.D3749N Missense 19/27 - 2
4-187524443-T-A c.11237A>T p.K3746M Missense 19/27 - 1
4-187524456-C-A c.11224G>T p.D3742Y Missense 19/27 - 1
4-187524464-G-A c.11216C>T p.A3739V Missense 19/27 - 2
4-187524485-T-A c.11195A>T p.N3732I Missense 19/27 - 1
4-187524485-T-C c.11195A>G p.N3732S Missense 19/27 - 1
4-187524503-A-G c.11177T>C p.I3726T Missense 19/27 - 2
4-187524503-A-T c.11177T>A p.I3726N Missense 19/27 - 3
4-187524510-C-A c.11170G>T p.E3724* Nonsense 19/27 - 1
4-187524523-CAC-AAA c.11155_11157delinsTTT p.V3719F Missense 19/27 - 1
4-187524526-G-A c.11154C>T p.S3718= Synonymous 19/27 - 1
4-187524526-G-C c.11154C>G p.S3718= Synonymous 19/27 - 1
4-187524526-G-T c.11154C>A p.S3718= Synonymous 19/27 - 1
4-187524527-G-T c.11153C>A p.S3718Y Missense 19/27 - 1
4-187524536-A-G c.11144T>C p.I3715T Missense 19/27 - 1
4-187524540-T-A c.11140A>T p.K3714* Nonsense 19/27 - 1
4-187524560-G-C c.11120C>G p.S3707* Nonsense 19/27 - 1
4-187524567-G-A c.11113C>T p.Q3705* Nonsense 19/27 - 2
4-187524585-C-A c.11095G>T p.E3699* Nonsense 19/27 - 1
4-187524600-C-T c.11080G>A p.V3694I Missense 19/27 - 5
4-187524603-C-T c.11077G>A p.D3693N Missense 19/27 - 1
4-187524608-T-C c.11072A>G p.H3691R Missense 19/27 - 2
4-187524644-T-C c.11036A>G p.Q3679R Missense 19/27 - 1
4-187524686-C-T c.10994G>A p.R3665Q Missense 19/27 - 2
4-187524687-G-A c.10993C>T p.R3665* Nonsense 19/27 - 1
4-187524689-TG-T c.10990del p.Q3664Sfs*10 Frameshift 19/27 - 1
4-187524698-C-T c.10982G>A p.R3661H Missense 19/27 - 2
4-187524700-C-T c.10980G>A p.W3660* Nonsense 19/27 - 1
4-187524701-C-T c.10979G>A p.W3660* Nonsense 19/27 - 3
4-187524711-C-A c.10969G>T p.G3657C Missense 19/27 - 2
4-187524723-C-A c.10957G>T p.E3653* Nonsense 19/27 - 1
4-187524723-C-T c.10957G>A p.E3653K Missense 19/27 - 1
4-187524724-C-T c.10956G>A p.P3652= Synonymous 19/27 - 1
4-187524726-G-A c.10954C>T p.P3652S Missense 19/27 - 1
4-187524738-C-T c.10942G>A p.A3648T Missense 19/27 - 1
4-187524743-C-T c.10937G>A p.R3646H Missense 19/27 - 1
4-187524744-G-A c.10936C>T p.R3646C Missense 19/27 - 1
4-187524768-T-A c.10912A>T p.M3638L Missense 19/27 - 1
4-187524771-C-T c.10909G>A p.E3637K Missense 19/27 - 1
4-187524805-G-A c.10875C>T p.A3625= Synonymous 19/27 - 1
4-187524812-G-A c.10868C>T p.T3623M Missense 19/27 - 2
4-187524825-C-A c.10855G>T p.G3619W Missense 19/27 - 1
4-187524834-C-T c.10846G>A p.V3616I Missense 19/27 - 1
4-187524846-G-T c.10834C>A p.L3612I Missense 19/27 - 1
4-187524849-G-A c.10831C>T p.L3611F Missense 19/27 - 2
4-187524850-G-C c.10830C>G p.Y3610* Nonsense 19/27 - 1
4-187524850-G-T c.10830C>A p.Y3610* Nonsense 19/27 - 1
4-187524860-A-T c.10820T>A p.I3607K Missense 19/27 - 1
4-187524879-C-T c.10801G>A p.A3601T Missense 19/27 - 1
4-187524890-C-T c.10790G>A p.G3597D Missense 19/27 - 1
4-187524893-C-T c.10787G>A p.G3596E Missense 19/27 - 1
4-187524889-G-GC c.10790dup p.K3598Qfs*61 Frameshift 19/27 - 1
4-187524906-C-A c.10774G>T p.V3592F Missense 19/27 - 2
4-187524906-C-G c.10774G>C p.V3592L Missense 19/27 - 1
4-187524910-G-C c.10770C>G p.F3590L Missense 19/27 - 1
4-187524914-A-G c.10766T>C p.L3589P Missense 19/27 - 1
4-187524914-CAGG-C c.10764_10766del p.N3588_L3589delinsK MultiAAMissense 19/27 - 1
4-187524923-A-G c.10757T>C p.M3586T Missense 19/27 - 1
4-187524960-C-T c.10720G>A p.V3574M Missense 19/27 - 1
4-187524987-C-G c.10693G>C p.G3565R Missense 19/27 - 1
4-187524987-C-T c.10693G>A p.G3565R Missense 19/27 - 1
4-187524993-C-T c.10687G>A p.V3563I Missense 19/27 - 1
4-187524999-C-T c.10681G>A p.G3561S Missense 19/27 - 1
4-187525005-ATTC-A c.10672_10674del p.E3558del InFrameDeletion 19/27 - 1
4-187525019-G-T c.10661C>A p.S3554Y Missense 19/27 - 1
4-187525020-A-C c.10660T>G p.S3554A Missense 19/27 - 9
4-187525020-A-T c.10660T>A p.S3554T Missense 19/27 - 3
4-187525049-G-A c.10631C>T p.A3544V Missense 19/27 - 1
4-187525055-G-A c.10625C>T p.P3542L Missense 19/27 - 1
4-187525089-T-A c.10591A>T p.I3531F Missense 19/27 - 2
4-187525104-A-G c.10576T>C p.S3526P Missense 19/27 - 1
4-187525109-T-C c.10571A>G p.Q3524R Missense 19/27 - 1
4-187525363-C-G c.10548+168G>C - IntronicSNV - 18/26 1
4-187525569-T-A c.10510A>T p.K3504* Nonsense 18/27 - 3
4-187525601-G-A c.10478C>T p.P3493L Missense 18/27 - 2
4-187525604-T-A c.10475A>T p.N3492I Missense 18/27 - 1
4-187525637-A-G c.10442T>C p.V3481A Missense 18/27 - 1
4-187525655-G-C c.10424C>G p.P3475R Missense 18/27 - 1
4-187525662-C-T c.10417G>A p.G3473S Missense 18/27 - 1
4-187525665-T-C c.10414A>G p.N3472D Missense 18/27 - 1
4-187525668-G-T c.10411C>A p.H3471N Missense 18/27 - 1
4-187525677-C-A c.10402G>T p.D3468Y Missense 18/27 - 1
4-187525680-C-A c.10399G>T p.E3467* Nonsense 18/27 - 1
4-187525698-G-A c.10381C>T p.Q3461* Nonsense 18/27 - 1
4-187525704-C-A c.10375G>T p.V3459L Missense 18/27 - 1
4-187525704-C-G c.10375G>C p.V3459L Missense 18/27 - 1
4-187527226-G-A c.10348C>T p.Q3450* Nonsense 17/27 - 2
4-187527243-T-C c.10331A>G p.N3444S Missense 17/27 - 1
4-187527247-C-A c.10327G>T p.G3443* Nonsense 17/27 - 1
4-187527259-C-G c.10315G>C p.V3439L Missense 17/27 - 1
4-187527264-G-A c.10310C>T p.A3437V Missense 17/27 - 2
4-187527269-G-T c.10305C>A p.D3435E Missense 17/27 - 1
4-187527280-C-T c.10294G>A p.D3432N Missense 17/27 - 1
4-187527281-G-A c.10293C>T p.S3431= Synonymous 17/27 - 1
4-187527281-G-C c.10293C>G p.S3431= Synonymous 17/27 - 1
4-187527281-G-T c.10293C>A p.S3431= Synonymous 17/27 - 1
4-187527282-G-A c.10292C>T p.S3431F Missense 17/27 - 1
4-187527289-C-T c.10285G>A p.D3429N Missense 17/27 - 1
4-187527298-C-A c.10276G>T p.V3426L Missense 17/27 - 1
4-187527298-C-G c.10276G>C p.V3426L Missense 17/27 - 1
4-187527300-G-A c.10274C>T p.T3425I Missense 17/27 - 2
4-187527303-G-A c.10271C>T p.T3424M Missense 17/27 - 1
4-187527306-G-A c.10268C>T p.T3423M Missense 17/27 - 2
4-187527315-C-A c.10259G>T p.R3420I Missense 17/27 - 1
4-187527321-G-A c.10253C>T p.P3418L Missense 17/27 - 1
4-187527327-C-T c.10247G>A p.G3416D Missense 17/27 - 1
4-187527336-AGAAGCTTGAACCGTGAGCGTGTAACCTGAAATCTTTTCAGGCAAAAGACAGAATGCACG-A c.10207-27_10238del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 17/27 16/26 1
4-187527343-G-A c.10231C>T p.Q3411* Nonsense 17/27 - 2
4-187527347-C-A c.10227G>T p.T3409= Synonymous 17/27 - 1
4-187527348-G-A c.10226C>T p.T3409M Missense 17/27 - 2
4-187527361-C-A c.10213G>T p.G3405C Missense 17/27 - 1
4-187530345-G-A c.10198C>T p.R3400* Nonsense 16/27 - 1
4-187530347-T-C c.10196A>G p.D3399G Missense 16/27 - 1
4-187530348-C-T c.10195G>A p.D3399N Missense 16/27 - 1
4-187530374-C-A c.10169G>T p.G3390V Missense 16/27 - 1
4-187530377-C-T c.10166G>A p.R3389K Missense 16/27 - 1
4-187530378-T-A c.10165A>T p.R3389W Missense 16/27 - 1
4-187530381-C-T c.10162G>A p.V3388I Missense 16/27 - 1
4-187530394-G-C c.10149C>G p.F3383L Missense 16/27 - 2
4-187530456-C-T c.10087G>A p.D3363N Missense 16/27 - 4
4-187530465-C-T c.10078G>A p.D3360N Missense 16/27 - 1
4-187530955-C-A c.10068G>T p.T3356= Synonymous 15/27 - 1
4-187530955-C-G c.10068G>C p.T3356= Synonymous 15/27 - 1
4-187530955-C-T c.10068G>A p.T3356= Synonymous 15/27 - 1
4-187530956-G-A c.10067C>T p.T3356M Missense 15/27 - 1
4-187530975-G-A c.10048C>T p.L3350F Missense 15/27 - 1
4-187530978-C-T c.10045G>A p.V3349I Missense 15/27 - 1
4-187531001-G-A c.10022C>T p.T3341M Missense 15/27 - 1
4-187531022-A-G c.10001T>C p.V3334A Missense 15/27 - 5
4-187531023-CAGGGGTATT-C c.9991_9999del p.N3331_P3333del InFrameDeletion 15/27 - 1
4-187531036-GTTGATATCTGT-G c.9976_9986del p.T3326Rfs*2 Frameshift 15/27 - 1
4-187531050-C-A c.9973G>T p.V3325L Missense 15/27 - 1
4-187531050-C-G c.9973G>C p.V3325L Missense 15/27 - 1
4-187531053-TA-T c.9969del p.N3324Mfs*2 Frameshift 15/27 - 1
4-187531056-C-T c.9967G>A p.V3323I Missense 15/27 - 2
4-187531057-G-A c.9966C>T p.N3322= Synonymous 15/27 - 1
4-187531064-G-T c.9959C>A p.T3320N Missense 15/27 - 1
4-187531074-C-T c.9949G>A p.D3317N Missense 15/27 - 1
4-187531075-G-A c.9948C>T p.S3316= Synonymous 15/27 - 1
4-187531082-G-T c.9941C>A p.S3314* Nonsense 15/27 - 1
4-187531094-C-T c.9929G>A p.G3310E Missense 15/27 - 1
4-187531125-C-A c.9898G>T p.E3300* Nonsense 15/27 - 2
4-187531137-C-T c.9886G>A p.E3296K Missense 15/27 - 1
4-187531158-T-C c.9865A>G p.I3289V Missense 15/27 - 1
4-187531166-G-T c.9857C>A p.A3286D Missense 15/27 - 1
4-187532542-G-A c.9851C>T p.T3284I Missense 14/27 - 1
4-187532548-G-C c.9845C>G p.S3282C Missense 14/27 - 1
4-187532552-C-A c.9841G>T p.D3281Y Missense 14/27 - 1
4-187532552-C-T c.9841G>A p.D3281N Missense 14/27 - 2
4-187532555-T-A c.9838A>T p.I3280L Missense 14/27 - 1
4-187532560-A-C c.9833T>G p.F3278C Missense 14/27 - 1
4-187532566-C-T c.9827G>A p.G3276E Missense 14/27 - 1
4-187532564-TC-T c.9828del p.K3277Nfs*4 Frameshift 14/27 - 1
4-187532578-C-G c.9815G>C p.G3272A Missense 14/27 - 1
4-187532590-G-C c.9803C>G p.S3268* Nonsense 14/27 - 1
4-187532590-G-T c.9803C>A p.S3268* Nonsense 14/27 - 1
4-187532603-C-T c.9790G>A p.E3264K Missense 14/27 - 1
4-187532615-C-A c.9778G>T p.E3260* Nonsense 14/27 - 1
4-187532620-T-A c.9773A>T p.D3258V Missense 14/27 - 1
4-187532621-C-A c.9772G>T p.D3258Y Missense 14/27 - 1
4-187532623-C-A c.9770G>T p.R3257L Missense 14/27 - 1
4-187532623-C-T c.9770G>A p.R3257Q Missense 14/27 - 1
4-187532624-G-A c.9769C>T p.R3257W Missense 14/27 - 1
4-187532624-G-C c.9769C>G p.R3257G Missense 14/27 - 1
4-187532641-T-G c.9752A>C p.Q3251P Missense 14/27 - 1
4-187532663-GA-G c.9729del p.V3245Lfs*25 Frameshift 14/27 - 2
4-187532667-G-C c.9726C>G p.D3242E Missense 14/27 - 1
4-187532667-G-T c.9726C>A p.D3242E Missense 14/27 - 1
4-187532678-C-T c.9715G>A p.V3239M Missense 14/27 - 1
4-187532693-C-A c.9700G>T p.E3234* Nonsense 14/27 - 1
4-187532695-C-T c.9698G>A p.R3233H Missense 14/27 - 1
4-187532696-G-A c.9697C>T p.R3233C Missense 14/27 - 1
4-187532715-G-A c.9678C>T p.N3226= Synonymous 14/27 - 1
4-187532785-T-C c.9608A>G p.D3203G Missense 14/27 - 1
4-187532789-C-A c.9604G>T p.V3202L Missense 14/27 - 1
4-187532789-C-G c.9604G>C p.V3202L Missense 14/27 - 1
4-187532791-G-A c.9602C>T p.A3201V Missense 14/27 - 1
4-187532792-C-T c.9601G>A p.A3201T Missense 14/27 - 1
4-187532796-C-T c.9597G>A p.L3199= Synonymous 14/27 - 1
4-187532800-G-A c.9593C>T p.S3198F Missense 14/27 - 1
4-187532808-G-GT c.9584dup p.Y3195* Nonsense 14/27 - 1
4-187532810-A-T c.9583T>A p.Y3195N Missense 14/27 - 1
4-187532819-G-A c.9574C>T p.Q3192* Nonsense 14/27 - 2
4-187532873-T-A c.9520A>T p.I3174F Missense 14/27 - 1
4-187532877-G-C c.9516C>G p.F3172L Missense 14/27 - 1
4-187532877-G-T c.9516C>A p.F3172L Missense 14/27 - 1
4-187532879-A-G c.9514T>C p.F3172L Missense 14/27 - 1
4-187532884-C-A c.9509G>T p.G3170V Missense 14/27 - 1
4-187532891-CAG-C c.9500_9501del p.S3167Cfs*2 Frameshift 14/27 - 1
4-187532906-A-G c.9487T>C p.S3163P Missense 14/27 - 1
4-187534254-G-A c.9463+9C>T - IntronicSNV - 13/26 1
4-187534269-C-T c.9457G>A p.D3153N Missense 13/27 - 1
4-187534326-C-T c.9400G>A p.V3134M Missense 13/27 - 1
4-187534333-G-A c.9393C>T p.A3131= Synonymous 13/27 - 1
4-187534333-G-C c.9393C>G p.A3131= Synonymous 13/27 - 1
4-187534333-G-T c.9393C>A p.A3131= Synonymous 13/27 - 1
4-187534335-C-T c.9391G>A p.A3131T Missense 13/27 - 2
4-187534340-G-A c.9386C>T p.P3129L Missense 13/27 - 1
4-187534346-G-A c.9380C>T p.A3127V Missense 13/27 - 1
4-187534356-C-T c.9370G>A p.E3124K Missense 13/27 - 2
4-187534359-G-T c.9367C>A p.P3123T Missense 13/27 - 1
4-187534363-G-A c.9363C>T p.N3121= Synonymous 13/27 - 1
4-187534368-C-T c.9358G>A p.D3120N Missense 13/27 - 1
4-187534369-G-C c.9357C>G p.N3119K Missense 13/27 - 1
4-187534374-C-T c.9352G>A p.V3118M Missense 13/27 - 1
4-187534375-A-G c.9351T>C p.D3117= Synonymous 13/27 - 3
4-187534419-C-T c.9307G>A p.G3103R Missense 13/27 - 1
4-187534422-C-A c.9304G>T p.G3102* Nonsense 13/27 - 1
4-187534434-T-A c.9292A>T p.R3098W Missense 13/27 - 1
4-187534434-T-C c.9292A>G p.R3098G Missense 13/27 - 1
4-187534437-C-T c.9289G>A p.V3097I Missense 13/27 - 1
4-187534455-C-T c.9271G>A p.A3091T Missense 13/27 - 1
4-187534461-C-T c.9265G>A p.E3089K Missense 13/27 - 1
4-187534462-C-A c.9264G>T p.E3088D Missense 13/27 - 1
4-187534462-C-G c.9264G>C p.E3088D Missense 13/27 - 1
4-187534464-C-A c.9262G>T p.E3088* Nonsense 13/27 - 1
4-187534466-C-T c.9260G>A p.R3087H Missense 13/27 - 1
4-187534467-G-A c.9259C>T p.R3087C Missense 13/27 - 2
4-187534467-G-C c.9259C>G p.R3087G Missense 13/27 - 3
4-187534470-C-A c.9256G>T p.D3086Y Missense 13/27 - 1
4-187534494-C-T c.9232G>A p.E3078K Missense 13/27 - 1
4-187535344-C-A c.9229+1G>T - IntronicSNV - 12/26 1
4-187535344-C-T c.9229+1G>A - IntronicSNV - 12/26 2
4-187535345-C-A c.9229G>T p.G3077C Missense 12/27 - 1
4-187535353-G-A c.9221C>T p.P3074L Missense 12/27 - 1
4-187535358-T-TA c.9215dup p.N3073Kfs*6 Frameshift 12/27 - 1
4-187535365-A-C c.9209T>G p.F3070C Missense 12/27 - 1
4-187535372-C-T c.9202G>A p.E3068K Missense 12/27 - 2
4-187535392-G-A c.9182C>T p.T3061M Missense 12/27 - 1
4-187535408-C-T c.9166G>A p.A3056T Missense 12/27 - 1
4-187535411-T-C c.9163A>G p.N3055D Missense 12/27 - 3
4-187535416-C-T c.9158G>A p.R3053H Missense 12/27 - 1
4-187535417-G-A c.9157C>T p.R3053C Missense 12/27 - 1
4-187535423-C-G c.9151G>C p.D3051H Missense 12/27 - 1
4-187535425-G-T c.9149C>A p.A3050E Missense 12/27 - 2
4-187535426-C-T c.9148G>A p.A3050T Missense 12/27 - 1
4-187535432-T-C c.9142A>G p.T3048A Missense 12/27 - 1
4-187535434-G-A c.9140C>T p.A3047V Missense 12/27 - 1
4-187535459-C-A c.9115G>T p.G3039* Nonsense 12/27 - 1
4-187535468-C-T c.9106G>A p.V3036I Missense 12/27 - 1
4-187535470-T-A c.9104A>T p.D3035V Missense 12/27 - 1
4-187535470-T-G c.9104A>C p.D3035A Missense 12/27 - 1
4-187535474-C-T c.9100G>A p.E3034K Missense 12/27 - 1
4-187538133-A-G c.9075+26T>C - IntronicSNV - 11/26 3
4-187538164-C-T c.9070G>A p.E3024K Missense 11/27 - 1
4-187538165-A-C c.9069T>G p.C3023W Missense 11/27 - 1
4-187538172-G-T c.9062C>A p.P3021Q Missense 11/27 - 1
4-187538188-C-T c.9046G>A p.A3016T Missense 11/27 - 1
4-187538192-C-A c.9042G>T p.L3014= Synonymous 11/27 - 1
4-187538192-C-G c.9042G>C p.L3014= Synonymous 11/27 - 1
4-187538192-C-T c.9042G>A p.L3014= Synonymous 11/27 - 1
4-187538194-G-A c.9040C>T p.L3014= Synonymous 11/27 - 1
4-187538220-G-C c.9014C>G p.S3005* Nonsense 11/27 - 1
4-187538232-C-T c.9002G>A p.G3001D Missense 11/27 - 1
4-187538242-C-T c.8992G>A p.A2998T Missense 11/27 - 1
4-187538243-C-T c.8991G>A p.T2997= Synonymous 11/27 - 1
4-187538244-G-A c.8990C>T p.T2997M Missense 11/27 - 1
4-187538244-G-T c.8990C>A p.T2997K Missense 11/27 - 1
4-187538250-G-A c.8984C>T p.T2995I Missense 11/27 - 1
4-187538253-A-C c.8981T>G p.L2994R Missense 11/27 - 1
4-187538253-A-G c.8981T>C p.L2994P Missense 11/27 - 1
4-187538257-G-T c.8977C>A p.L2993I Missense 11/27 - 1
4-187538271-T-A c.8963A>T p.K2988I Missense 11/27 - 2
4-187538268-CT-C c.8965del p.R2989Gfs*20 Frameshift 11/27 - 1
4-187538275-C-T c.8959G>A p.E2987K Missense 11/27 - 1
4-187538277-C-T c.8957G>A p.R2986K Missense 11/27 - 1
4-187538307-C-A c.8927G>T p.W2976L Missense 11/27 - 1
4-187538320-T-C c.8914A>G p.I2972V Missense 11/27 - 1
4-187538324-T-A c.8910A>T p.E2970D Missense 11/27 - 1
4-187538324-T-G c.8910A>C p.E2970D Missense 11/27 - 2
4-187538330-G-A c.8904C>T p.A2968= Synonymous 11/27 - 1
4-187538330-G-T c.8904C>A p.A2968= Synonymous 11/27 - 1
4-187538336-C-A c.8898G>T p.Q2966H Missense 11/27 - 1
4-187538336-C-G c.8898G>C p.Q2966H Missense 11/27 - 1
4-187538346-G-T c.8888C>A p.P2963H Missense 11/27 - 1
4-187538350-C-A c.8884G>T p.D2962Y Missense 11/27 - 1
4-187538861-C-A c.8878+1G>T - IntronicSNV - 10/26 1
4-187538883-G-C c.8857C>G p.Q2953E Missense 10/27 - 1
4-187538910-C-T c.8830G>A p.D2944N Missense 10/27 - 1
4-187538912-G-A c.8828C>T p.T2943M Missense 10/27 - 1
4-187538923-G-C c.8817C>G p.I2939M Missense 10/27 - 1
4-187538934-C-T c.8806G>A p.V2936M Missense 10/27 - 1
4-187538938-AC-A c.8801del p.G2934Vfs*3 Frameshift 10/27 - 1
4-187538940-CT-C c.8799del p.G2934Vfs*3 Frameshift 10/27 - 2
4-187538942-T-A c.8798A>T p.Q2933L Missense 10/27 - 3
4-187538942-T-G c.8798A>C p.Q2933P Missense 10/27 - 6
4-187538979-C-T c.8761G>A p.E2921K Missense 10/27 - 1
4-187538988-A-G c.8752T>C p.F2918L Missense 10/27 - 1
4-187538991-G-A c.8749C>T p.R2917* Nonsense 10/27 - 2
4-187539013-G-A c.8727C>T p.T2909= Synonymous 10/27 - 1
4-187539024-C-T c.8716G>A p.V2906I Missense 10/27 - 1
4-187539030-C-T c.8710G>A p.V2904M Missense 10/27 - 1
4-187539031-A-G c.8709T>C p.I2903= Synonymous 10/27 - 1
4-187539031-A-T c.8709T>A p.I2903= Synonymous 10/27 - 1
4-187539051-G-A c.8689C>T p.Q2897* Nonsense 10/27 - 1
4-187539063-C-A c.8677G>T p.G2893C Missense 10/27 - 1
4-187539069-C-A c.8671G>T p.D2891Y Missense 10/27 - 1
4-187539078-C-A c.8662G>T p.V2888F Missense 10/27 - 1
4-187539078-C-T c.8662G>A p.V2888I Missense 10/27 - 1
4-187539105-T-C c.8635A>G p.K2879E Missense 10/27 - 1
4-187539114-C-G c.8626G>C p.D2876H Missense 10/27 - 1
4-187539114-C-T c.8626G>A p.D2876N Missense 10/27 - 1
4-187539120-C-A c.8620G>T p.E2874* Nonsense 10/27 - 1
4-187539137-C-T c.8603G>A p.W2868* Nonsense 10/27 - 1
4-187539169-A-C c.8571T>G p.I2857M Missense 10/27 - 1
4-187539186-G-A c.8554C>T p.Q2852* Nonsense 10/27 - 1
4-187539187-T-A c.8553A>T p.S2851= Synonymous 10/27 - 1
4-187539187-T-C c.8553A>G p.S2851= Synonymous 10/27 - 1
4-187539187-T-G c.8553A>C p.S2851= Synonymous 10/27 - 1
4-187539215-C-T c.8525G>A p.G2842D Missense 10/27 - 1
4-187539217-G-A c.8523C>T p.N2841= Synonymous 10/27 - 1
4-187539224-C-T c.8516G>A p.G2839E Missense 10/27 - 2
4-187539263-C-A c.8477G>T p.S2826I Missense 10/27 - 1
4-187539275-A-G c.8465T>C p.L2822P Missense 10/27 - 4
4-187539296-T-C c.8444A>G p.E2815G Missense 10/27 - 1
4-187539308-G-C c.8432C>G p.S2811C Missense 10/27 - 1
4-187539320-G-A c.8420C>T p.P2807L Missense 10/27 - 1
4-187539320-G-T c.8420C>A p.P2807Q Missense 10/27 - 1
4-187539326-T-C c.8414A>G p.N2805S Missense 10/27 - 1
4-187539348-G-T c.8392C>A p.Q2798K Missense 10/27 - 1
4-187539378-C-A c.8362G>T p.E2788* Nonsense 10/27 - 1
4-187539390-G-A c.8350C>T p.Q2784* Nonsense 10/27 - 1
4-187539417-G-A c.8323C>T p.Q2775* Nonsense 10/27 - 1
4-187539417-G-C c.8323C>G p.Q2775E Missense 10/27 - 1
4-187539421-C-T c.8319G>A p.W2773* Nonsense 10/27 - 1
4-187539424-C-A c.8316G>T p.K2772N Missense 10/27 - 1
4-187539424-C-G c.8316G>C p.K2772N Missense 10/27 - 1
4-187539429-T-C c.8311A>G p.T2771A Missense 10/27 - 1
4-187539437-T-C c.8303A>G p.H2768R Missense 10/27 - 1
4-187539438-G-T c.8302C>A p.H2768N Missense 10/27 - 1
4-187539441-C-T c.8299G>A p.D2767N Missense 10/27 - 1
4-187539449-T-C c.8291A>G p.K2764R Missense 10/27 - 1
4-187539453-C-A c.8287G>T p.E2763* Nonsense 10/27 - 1
4-187539460-C-A c.8280G>T p.L2760= Synonymous 10/27 - 1
4-187539460-C-G c.8280G>C p.L2760= Synonymous 10/27 - 1
4-187539460-C-T c.8280G>A p.L2760= Synonymous 10/27 - 1
4-187539462-G-A c.8278C>T p.L2760= Synonymous 10/27 - 1
4-187539467-C-T c.8273G>A p.G2758E Missense 10/27 - 1
4-187539468-C-T c.8272G>A p.G2758R Missense 10/27 - 1
4-187539469-G-C c.8271C>G p.S2757R Missense 10/27 - 1
4-187539469-G-T c.8271C>A p.S2757R Missense 10/27 - 1
4-187539471-T-G c.8269A>C p.S2757R Missense 10/27 - 1
4-187539470-CTCTG-C c.8266_8269del p.Q2756Afs*4 Frameshift 10/27 - 1
4-187539478-G-C c.8262C>G p.D2754E Missense 10/27 - 1
4-187539478-G-T c.8262C>A p.D2754E Missense 10/27 - 1
4-187539482-A-T c.8258T>A p.I2753N Missense 10/27 - 1
4-187539491-G-C c.8249C>G p.S2750C Missense 10/27 - 1
4-187539498-C-A c.8242G>T p.D2748Y Missense 10/27 - 1
4-187539500-C-A c.8240G>T p.R2747M Missense 10/27 - 1
4-187539510-C-A c.8230G>T p.E2744* Nonsense 10/27 - 1
4-187539522-C-T c.8218G>A p.G2740R Missense 10/27 - 1
4-187539534-T-A c.8206A>T p.S2736C Missense 10/27 - 1
4-187539562-T-A c.8178A>T p.R2726= Synonymous 10/27 - 1
4-187539564-G-A c.8176C>T p.R2726* Nonsense 10/27 - 3
4-187539568-G-A c.8172C>T p.L2724= Synonymous 10/27 - 1
4-187539568-G-C c.8172C>G p.L2724= Synonymous 10/27 - 1
4-187539568-G-T c.8172C>A p.L2724= Synonymous 10/27 - 1
4-187539572-T-C c.8168A>G p.D2723G Missense 10/27 - 1
4-187539585-C-A c.8155G>T p.G2719* Nonsense 10/27 - 1
4-187539591-G-A c.8149C>T p.P2717S Missense 10/27 - 1
4-187539598-C-A c.8142G>T p.E2714D Missense 10/27 - 2
4-187539598-C-G c.8142G>C p.E2714D Missense 10/27 - 2
4-187539600-C-G c.8140G>C p.E2714Q Missense 10/27 - 1
4-187539605-A-C c.8135T>G p.V2712G Missense 10/27 - 1
4-187539607-T-A c.8133A>T p.T2711= Synonymous 10/27 - 1
4-187539607-T-C c.8133A>G p.T2711= Synonymous 10/27 - 1
4-187539607-T-G c.8133A>C p.T2711= Synonymous 10/27 - 1
4-187539618-A-G c.8122T>C p.Y2708H Missense 10/27 - 1
4-187539645-G-C c.8095C>G p.Q2699E Missense 10/27 - 1
4-187539653-G-A c.8087C>T p.P2696L Missense 10/27 - 2
4-187539660-G-A c.8080C>T p.L2694F Missense 10/27 - 2
4-187539671-T-C c.8069A>G p.Y2690C Missense 10/27 - 1
4-187539676-AAGAAC-A c.8059_8063del p.V2687Cfs*4 Frameshift 10/27 - 1
4-187539695-G-C c.8045C>G p.S2682* Nonsense 10/27 - 1
4-187539695-G-T c.8045C>A p.S2682* Nonsense 10/27 - 1
4-187539699-G-A c.8041C>T p.P2681S Missense 10/27 - 1
4-187539702-AC-A c.8037del p.S2680Lfs*43 Frameshift 10/27 - 1
4-187539711-C-A c.8029G>T p.D2677Y Missense 10/27 - 1
4-187539714-C-A c.8026G>T p.V2676L Missense 10/27 - 1
4-187539714-C-G c.8026G>C p.V2676L Missense 10/27 - 1
4-187539727-G-T c.8013C>A p.F2671L Missense 10/27 - 1
4-187539783-C-T c.7957G>A p.G2653S Missense 10/27 - 3
4-187539808-C-G c.7932G>C p.E2644D Missense 10/27 - 1
4-187539810-C-T c.7930G>A p.E2644K Missense 10/27 - 1
4-187539847-G-T c.7893C>A p.I2631= Synonymous 10/27 - 1
4-187539863-C-T c.7877G>A p.G2626D Missense 10/27 - 2
4-187539870-C-T c.7870G>A p.D2624N Missense 10/27 - 1
4-187539897-C-T c.7843G>A p.V2615I Missense 10/27 - 1
4-187539899-G-C c.7841C>G p.S2614* Nonsense 10/27 - 1
4-187539899-G-T c.7841C>A p.S2614* Nonsense 10/27 - 1
4-187539905-C-A c.7835G>T p.G2612V Missense 10/27 - 1
4-187539915-C-T c.7825G>A p.A2609T Missense 10/27 - 2
4-187539917-C-A c.7823G>T p.S2608I Missense 10/27 - 1
4-187539924-C-A c.7816G>T p.G2606W Missense 10/27 - 1
4-187539936-C-T c.7804G>A p.E2602K Missense 10/27 - 1
4-187539941-T-A c.7799A>T p.K2600I Missense 10/27 - 1
4-187539941-T-C c.7799A>G p.K2600R Missense 10/27 - 1
4-187539951-G-A c.7789C>T p.R2597* Nonsense 10/27 - 6
4-187539963-C-A c.7777G>T p.A2593S Missense 10/27 - 1
4-187539969-C-A c.7771G>T p.D2591Y Missense 10/27 - 1
4-187539971-T-A c.7769A>T p.N2590I Missense 10/27 - 2
4-187539975-C-T c.7765G>A p.D2589N Missense 10/27 - 2
4-187540000-G-C c.7740C>G p.C2580W Missense 10/27 - 1
4-187540003-G-C c.7737C>G p.F2579L Missense 10/27 - 1
4-187540011-C-T c.7729G>A p.V2577I Missense 10/27 - 2
4-187540018-CT-C c.7722del p.G2575Efs*8 Frameshift 10/27 - 1
4-187540020-C-T c.7720G>A p.G2574R Missense 10/27 - 1
4-187540027-C-A c.7713G>T p.K2571N Missense 10/27 - 1
4-187540027-C-G c.7713G>C p.K2571N Missense 10/27 - 1
4-187540040-C-T c.7700G>A p.R2567H Missense 10/27 - 3
4-187540041-G-A c.7699C>T p.R2567C Missense 10/27 - 1
4-187540042-G-A c.7698C>T p.V2566= Synonymous 10/27 - 1
4-187540042-G-C c.7698C>G p.V2566= Synonymous 10/27 - 1
4-187540042-G-T c.7698C>A p.V2566= Synonymous 10/27 - 1
4-187540064-G-A c.7676C>T p.P2559L Missense 10/27 - 1
4-187540073-C-T c.7667G>A p.R2556Q Missense 10/27 - 2
4-187540074-G-A c.7666C>T p.R2556* Nonsense 10/27 - 2
4-187540085-T-C c.7655A>G p.E2552G Missense 10/27 - 2
4-187540116-T-C c.7624A>G p.I2542V Missense 10/27 - 1
4-187540130-T-A c.7610A>T p.K2537I Missense 10/27 - 1
4-187540133-G-A c.7607C>T p.A2536V Missense 10/27 - 1
4-187540134-C-A c.7606G>T p.A2536S Missense 10/27 - 1
4-187540134-C-T c.7606G>A p.A2536T Missense 10/27 - 1
4-187540162-G-C c.7578C>G p.H2526Q Missense 10/27 - 1
4-187540162-G-T c.7578C>A p.H2526Q Missense 10/27 - 1
4-187540190-G-A c.7550C>T p.T2517M Missense 10/27 - 1
4-187540212-G-T c.7528C>A p.L2510M Missense 10/27 - 1
4-187540239-G-C c.7501C>G p.L2501V Missense 10/27 - 1
4-187540242-C-T c.7498G>A p.E2500K Missense 10/27 - 1
4-187540254-C-A c.7486G>T p.E2496* Nonsense 10/27 - 1
4-187540254-C-T c.7486G>A p.E2496K Missense 10/27 - 3
4-187540271-G-A c.7469C>T p.P2490L Missense 10/27 - 1
4-187540290-C-A c.7450G>T p.G2484* Nonsense 10/27 - 2
4-187540296-C-G c.7444G>C p.V2482L Missense 10/27 - 1
4-187540298-G-A c.7442C>T p.T2481I Missense 10/27 - 1
4-187540298-G-T c.7442C>A p.T2481N Missense 10/27 - 1
4-187540305-G-A c.7435C>T p.H2479Y Missense 10/27 - 2
4-187540308-C-G c.7432G>C p.V2478L Missense 10/27 - 1
4-187540308-C-T c.7432G>A p.V2478I Missense 10/27 - 1
4-187540311-G-A c.7429C>T p.Q2477* Nonsense 10/27 - 1
4-187540315-G-A c.7425C>T p.S2475= Synonymous 10/27 - 1
4-187540315-G-C c.7425C>G p.S2475= Synonymous 10/27 - 1
4-187540315-G-T c.7425C>A p.S2475= Synonymous 10/27 - 1
4-187540319-C-T c.7421G>A p.S2474N Missense 10/27 - 1
4-187540322-C-G c.7418G>C p.R2473T Missense 10/27 - 1
4-187540329-C-T c.7411G>A p.V2471I Missense 10/27 - 1
4-187540332-C-T c.7408G>A p.G2470R Missense 10/27 - 1
4-187540335-C-T c.7405G>A p.D2469N Missense 10/27 - 1
4-187540337-G-C c.7403C>G p.S2468C Missense 10/27 - 1
4-187540374-C-T c.7366G>A p.A2456T Missense 10/27 - 1
4-187540377-G-A c.7363C>T p.H2455Y Missense 10/27 - 1
4-187540380-G-A c.7360C>T p.R2454W Missense 10/27 - 2
4-187540381-G-A c.7359C>T p.H2453= Synonymous 10/27 - 1
4-187540385-A-AT c.7354_7355insA p.L2452Hfs*13 Frameshift 10/27 - 1
4-187540407-C-T c.7333G>A p.G2445R Missense 10/27 - 1
4-187540430-T-C c.7310A>G p.H2437R Missense 10/27 - 1
4-187540437-G-C c.7303C>G p.H2435D Missense 10/27 - 1
4-187540438-A-G c.7302T>C p.D2434= Synonymous 10/27 - 1
4-187540440-C-T c.7300G>A p.D2434N Missense 10/27 - 1
4-187540481-G-C c.7259C>G p.S2420* Nonsense 10/27 - 1
4-187540491-C-T c.7249G>A p.A2417T Missense 10/27 - 1
4-187540501-T-A c.7239A>T p.K2413N Missense 10/27 - 1
4-187540501-T-G c.7239A>C p.K2413N Missense 10/27 - 1
4-187540506-C-T c.7234G>A p.V2412I Missense 10/27 - 1
4-187540515-C-T c.7225G>A p.V2409M Missense 10/27 - 2
4-187540521-GC-G c.7218del p.H2407Ifs*3 Frameshift 10/27 - 1
4-187540524-C-A c.7216G>T p.G2406W Missense 10/27 - 1
4-187540539-C-A c.7201G>T p.E2401* Nonsense 10/27 - 2
4-187540548-T-G c.7192A>C p.R2398= Synonymous 10/27 - 1
4-187540561-C-A c.7179G>T p.Q2393H Missense 10/27 - 1
4-187540561-C-G c.7179G>C p.Q2393H Missense 10/27 - 1
4-187540596-C-T c.7144G>A p.D2382N Missense 10/27 - 1
4-187540603-G-A c.7137C>T p.D2379= Synonymous 10/27 - 1
4-187540608-C-T c.7132G>A p.V2378M Missense 10/27 - 1
4-187540610-G-A c.7130C>T p.T2377M Missense 10/27 - 3
4-187540635-T-G c.7105A>C p.T2369P Missense 10/27 - 2
4-187540647-C-A c.7093G>T p.G2365C Missense 10/27 - 1
4-187540649-T-C c.7091A>G p.D2364G Missense 10/27 - 1
4-187540654-T-A c.7086A>T p.A2362= Synonymous 10/27 - 1
4-187540654-T-C c.7086A>G p.A2362= Synonymous 10/27 - 1
4-187540654-T-G c.7086A>C p.A2362= Synonymous 10/27 - 1
4-187540662-C-CA c.7077dup p.V2360Cfs*5 Frameshift 10/27 - 1
4-187540677-G-A c.7063C>T p.Q2355* Nonsense 10/27 - 1
4-187540680-G-A c.7060C>T p.R2354W Missense 10/27 - 1
4-187540683-A-C c.7057T>G p.S2353A Missense 10/27 - 1
4-187540689-C-A c.7051G>T p.E2351* Nonsense 10/27 - 1
4-187540689-C-G c.7051G>C p.E2351Q Missense 10/27 - 1
4-187540689-C-T c.7051G>A p.E2351K Missense 10/27 - 1
4-187540698-G-T c.7042C>A p.L2348M Missense 10/27 - 1
4-187540701-T-A c.7039A>T p.T2347S Missense 10/27 - 1
4-187540729-G-A c.7011C>T p.S2337= Synonymous 10/27 - 1
4-187540736-A-T c.7004T>A p.V2335E Missense 10/27 - 1
4-187540746-G-C c.6994C>G p.H2332D Missense 10/27 - 1
4-187540755-T-C c.6985A>G p.S2329G Missense 10/27 - 1
4-187540774-C-T c.6966G>A p.M2322I Missense 10/27 - 1
4-187540823-C-G c.6917G>C p.R2306T Missense 10/27 - 1
4-187540828-T-G c.6912A>C p.Q2304H Missense 10/27 - 1
4-187540835-A-G c.6905T>C p.V2302A Missense 10/27 - 1
4-187540845-C-A c.6895G>T p.G2299* Nonsense 10/27 - 1
4-187540860-C-T c.6880G>A p.E2294K Missense 10/27 - 1
4-187540868-G-A c.6872C>T p.T2291I Missense 10/27 - 1
4-187540872-C-T c.6868G>A p.V2290M Missense 10/27 - 2
4-187540871-AC-A c.6868del p.V2290* Frameshift 10/27 - 1
4-187540874-G-A c.6866C>T p.A2289V Missense 10/27 - 2
4-187540896-C-T c.6844G>A p.V2282M Missense 10/27 - 1
4-187540897-A-C c.6843T>G p.P2281= Synonymous 10/27 - 1
4-187540897-A-G c.6843T>C p.P2281= Synonymous 10/27 - 1
4-187540897-A-T c.6843T>A p.P2281= Synonymous 10/27 - 1
4-187540908-C-A c.6832G>T p.D2278Y Missense 10/27 - 1
4-187540908-C-T c.6832G>A p.D2278N Missense 10/27 - 1
4-187540912-G-C c.6828C>G p.I2276M Missense 10/27 - 1
4-187540914-T-C c.6826A>G p.I2276V Missense 10/27 - 1
4-187540918-G-C c.6822C>G p.D2274E Missense 10/27 - 1
4-187540932-C-T c.6808G>A p.D2270N Missense 10/27 - 3
4-187540992-A-G c.6748T>C p.Y2250H Missense 10/27 - 1
4-187540994-G-A c.6746C>T p.A2249V Missense 10/27 - 1
4-187540997-G-T c.6743C>A p.P2248Q Missense 10/27 - 1
4-187541024-A-T c.6716T>A p.I2239K Missense 10/27 - 1
4-187541032-G-A c.6708C>T p.I2236= Synonymous 10/27 - 1
4-187541032-G-T c.6708C>A p.I2236= Synonymous 10/27 - 1
4-187541038-T-A c.6702A>T p.G2234= Synonymous 10/27 - 1
4-187541038-T-C c.6702A>G p.G2234= Synonymous 10/27 - 1
4-187541038-T-G c.6702A>C p.G2234= Synonymous 10/27 - 1
4-187541040-C-A c.6700G>T p.G2234* Nonsense 10/27 - 1
4-187541055-T-G c.6685A>C p.I2229L Missense 10/27 - 1
4-187541064-G-A c.6676C>T p.Q2226* Nonsense 10/27 - 1
4-187541065-G-C c.6675C>G p.S2225R Missense 10/27 - 1
4-187541073-G-T c.6667C>A p.P2223T Missense 10/27 - 1
4-187541090-C-T c.6650G>A p.S2217N Missense 10/27 - 2
4-187541105-A-T c.6635T>A p.L2212Q Missense 10/27 - 1
4-187541114-G-A c.6626C>T p.P2209L Missense 10/27 - 2
4-187541120-T-C c.6620A>G p.N2207S Missense 10/27 - 1
4-187541121-T-A c.6619A>T p.N2207Y Missense 10/27 - 1
4-187541144-C-T c.6596G>A p.S2199N Missense 10/27 - 1
4-187541154-G-T c.6586C>A p.Q2196K Missense 10/27 - 1
4-187541159-C-A c.6581G>T p.S2194I Missense 10/27 - 1
4-187541162-T-A c.6578A>T p.E2193V Missense 10/27 - 1
4-187541184-A-C c.6556T>G p.F2186V Missense 10/27 - 1
4-187541187-G-GT c.6552dup p.P2185Tfs*23 Frameshift 10/27 - 1
4-187541196-A-C c.6544T>G p.F2182V Missense 10/27 - 1
4-187541202-G-A c.6538C>T p.P2180S Missense 10/27 - 1
4-187541205-TG-T c.6534del p.M2179Cfs*34 Frameshift 10/27 - 1
4-187541220-C-T c.6520G>A p.V2174I Missense 10/27 - 1
4-187541228-G-A c.6512C>T p.P2171L Missense 10/27 - 1
4-187541228-G-T c.6512C>A p.P2171Q Missense 10/27 - 1
4-187541232-C-T c.6508G>A p.V2170I Missense 10/27 - 1
4-187541253-C-A c.6487G>T p.A2163S Missense 10/27 - 1
4-187541253-C-T c.6487G>A p.A2163T Missense 10/27 - 2
4-187541254-C-A c.6486G>T p.P2162= Synonymous 10/27 - 1
4-187541254-C-G c.6486G>C p.P2162= Synonymous 10/27 - 1
4-187541254-C-T c.6486G>A p.P2162= Synonymous 10/27 - 1
4-187541255-G-A c.6485C>T p.P2162L Missense 10/27 - 1
4-187541262-C-A c.6478G>T p.G2160W Missense 10/27 - 1
4-187541265-C-G c.6475G>C p.G2159R Missense 10/27 - 1
4-187541265-C-T c.6475G>A p.G2159R Missense 10/27 - 1
4-187541268-C-T c.6472G>A p.D2158N Missense 10/27 - 1
4-187541273-G-A c.6467C>T p.A2156V Missense 10/27 - 1
4-187541290-A-T c.6450T>A p.Y2150* Nonsense 10/27 - 1
4-187541344-C-A c.6396G>T p.L2132F Missense 10/27 - 1
4-187541344-C-G c.6396G>C p.L2132F Missense 10/27 - 1
4-187541367-C-A c.6373G>T p.E2125* Nonsense 10/27 - 1
4-187541368-A-C c.6372T>G p.H2124Q Missense 10/27 - 1
4-187541368-A-T c.6372T>A p.H2124Q Missense 10/27 - 1
4-187541369-T-C c.6371A>G p.H2124R Missense 10/27 - 1
4-187541379-T-C c.6361A>G p.K2121E Missense 10/27 - 2
4-187541387-T-G c.6353A>C p.Y2118S Missense 10/27 - 1
4-187541400-C-G c.6340G>C p.G2114R Missense 10/27 - 1
4-187541400-C-T c.6340G>A p.G2114R Missense 10/27 - 1
4-187541444-A-G c.6296T>C p.V2099A Missense 10/27 - 1
4-187541475-C-T c.6265G>A p.V2089I Missense 10/27 - 6
4-187541484-A-C c.6256T>G p.Y2086D Missense 10/27 - 1
4-187541486-G-A c.6254C>T p.P2085L Missense 10/27 - 2
4-187541498-A-T c.6242T>A p.F2081Y Missense 10/27 - 1
4-187541505-G-A c.6235C>T p.P2079S Missense 10/27 - 3
4-187541507-G-A c.6233C>T p.A2078V Missense 10/27 - 1
4-187541508-C-T c.6232G>A p.A2078T Missense 10/27 - 2
4-187541511-T-C c.6229A>G p.N2077D Missense 10/27 - 1
4-187541520-G-A c.6220C>T p.Q2074* Nonsense 10/27 - 1
4-187541528-A-G c.6212T>C p.V2071A Missense 10/27 - 1
4-187541547-C-T c.6193G>A p.V2065I Missense 10/27 - 1
4-187541549-T-C c.6191A>G p.H2064R Missense 10/27 - 1
4-187541552-G-T c.6188C>A p.A2063D Missense 10/27 - 1
4-187541561-G-A c.6179C>T p.S2060F Missense 10/27 - 1
4-187541586-C-G c.6154G>C p.E2052Q Missense 10/27 - 1
4-187541586-C-T c.6154G>A p.E2052K Missense 10/27 - 1
4-187541604-C-T c.6136G>A p.A2046T Missense 10/27 - 1
4-187541610-G-T c.6130C>A p.Q2044K Missense 10/27 - 1
4-187541619-G-A c.6121C>T p.R2041C Missense 10/27 - 1
4-187541630-G-A c.6110C>T p.T2037M Missense 10/27 - 1
4-187541649-C-A c.6091G>T p.V2031F Missense 10/27 - 1
4-187541652-C-G c.6088G>C p.G2030R Missense 10/27 - 1
4-187541652-C-T c.6088G>A p.G2030R Missense 10/27 - 1
4-187541673-A-T c.6067T>A p.F2023I Missense 10/27 - 1
4-187541678-C-T c.6062G>A p.R2021H Missense 10/27 - 1
4-187541679-G-A c.6061C>T p.R2021C Missense 10/27 - 2
4-187541711-T-A c.6029A>T p.E2010V Missense 10/27 - 1
4-187541714-T-C c.6026A>G p.N2009S Missense 10/27 - 2
4-187541718-T-C c.6022A>G p.I2008V Missense 10/27 - 1
4-187541727-C-A c.6013G>T p.G2005W Missense 10/27 - 1
4-187541728-A-C c.6012T>G p.I2004M Missense 10/27 - 3
4-187541747-A-C c.5993T>G p.L1998* Nonsense 10/27 - 1
4-187541754-C-A c.5986G>T p.E1996* Nonsense 10/27 - 1
4-187541760-C-A c.5980G>T p.E1994* Nonsense 10/27 - 1
4-187541761-G-A c.5979C>T p.T1993= Synonymous 10/27 - 1
4-187541765-G-A c.5975C>T p.S1992F Missense 10/27 - 2
4-187541768-TTC-T c.5970_5971del p.N1991Ffs*19 Frameshift 10/27 - 1
4-187541772-C-A c.5968G>T p.E1990* Nonsense 10/27 - 1
4-187541775-T-A c.5965A>T p.K1989* Nonsense 10/27 - 1
4-187541776-C-A c.5964G>T p.V1988= Synonymous 10/27 - 1
4-187541776-C-G c.5964G>C p.V1988= Synonymous 10/27 - 1
4-187541776-C-T c.5964G>A p.V1988= Synonymous 10/27 - 1
4-187541789-T-C c.5951A>G p.Y1984C Missense 10/27 - 1
4-187541798-TG-T c.5941del p.Q1981Rfs*7 Frameshift 10/27 - 2
4-187541801-G-A c.5939C>T p.T1980I Missense 10/27 - 1
4-187541808-T-A c.5932A>T p.K1978* Nonsense 10/27 - 1
4-187541806-CT-C c.5933del p.K1978Sfs*10 Frameshift 10/27 - 1
4-187541850-A-G c.5890T>C p.S1964P Missense 10/27 - 1
4-187541860-G-A c.5880C>T p.A1960= Synonymous 10/27 - 1
4-187541873-T-A c.5867A>T p.D1956V Missense 10/27 - 1
4-187541913-G-A c.5827C>T p.Q1943* Nonsense 10/27 - 1
4-187541915-G-T c.5825C>A p.T1942N Missense 10/27 - 1
4-187541919-T-C c.5821A>G p.T1941A Missense 10/27 - 1
4-187541925-G-T c.5815C>A p.Q1939K Missense 10/27 - 1
4-187541937-C-T c.5803G>A p.A1935T Missense 10/27 - 1
4-187541947-G-C c.5793C>G p.Y1931* Nonsense 10/27 - 1
4-187541966-T-A c.5774A>T p.E1925V Missense 10/27 - 1
4-187541965-CTCCCCGATGT-C c.5765_5774del p.N1922Rfs*20 Frameshift 10/27 - 1
4-187541970-C-A c.5770G>T p.G1924W Missense 10/27 - 1
4-187541970-C-G c.5770G>C p.G1924R Missense 10/27 - 1
4-187541970-C-T c.5770G>A p.G1924R Missense 10/27 - 1
4-187541975-T-G c.5765A>C p.N1922T Missense 10/27 - 1
4-187541978-C-A c.5762G>T p.G1921V Missense 10/27 - 1
4-187541988-T-C c.5752A>G p.I1918V Missense 10/27 - 2
4-187542003-G-A c.5737C>T p.Q1913* Nonsense 10/27 - 1
4-187542012-C-T c.5728G>A p.A1910T Missense 10/27 - 1
4-187542057-C-A c.5683G>T p.G1895* Nonsense 10/27 - 1
4-187542069-G-T c.5671C>A p.P1891T Missense 10/27 - 3
4-187542092-A-T c.5648T>A p.L1883* Nonsense 10/27 - 1
4-187542111-G-C c.5629C>G p.P1877A Missense 10/27 - 1
4-187542112-G-A c.5628C>T p.P1876= Synonymous 10/27 - 1
4-187542112-G-C c.5628C>G p.P1876= Synonymous 10/27 - 1
4-187542112-G-T c.5628C>A p.P1876= Synonymous 10/27 - 1
4-187542109-A-AG c.5630dup p.V1878Cfs*8 Frameshift 10/27 - 1
4-187542109-AG-A c.5630del p.P1877Lfs*20 Frameshift 10/27 - 1
4-187542121-A-T c.5619T>A p.N1873K Missense 10/27 - 1
4-187542153-C-T c.5587G>A p.A1863T Missense 10/27 - 1
4-187542174-G-A c.5566C>T p.R1856C Missense 10/27 - 1
4-187542192-G-A c.5548C>T p.H1850Y Missense 10/27 - 1
4-187542196-T-A c.5544A>T p.Q1848H Missense 10/27 - 1
4-187542196-T-G c.5544A>C p.Q1848H Missense 10/27 - 2
4-187542201-C-T c.5539G>A p.V1847I Missense 10/27 - 1
4-187542210-G-A c.5530C>T p.H1844Y Missense 10/27 - 1
4-187542217-ACT-TCA c.5521_5523delinsTGA p.S1841* Nonsense 10/27 - 1
4-187542221-G-C c.5519C>G p.T1840R Missense 10/27 - 1
4-187542225-C-A c.5515G>T p.E1839* Nonsense 10/27 - 1
4-187542257-AGCAC-A c.5480_5483del p.G1827Vfs*6 Frameshift 10/27 - 2
4-187542287-G-A c.5453C>T p.T1818I Missense 10/27 - 1
4-187542291-G-T c.5449C>A p.H1817N Missense 10/27 - 1
4-187542299-G-T c.5441C>A p.P1814Q Missense 10/27 - 3
4-187542326-G-A c.5414C>T p.A1805V Missense 10/27 - 1
4-187542332-G-C c.5408C>G p.S1803* Nonsense 10/27 - 1
4-187542341-T-C c.5399A>G p.D1800G Missense 10/27 - 1
4-187542348-C-T c.5392G>A p.D1798N Missense 10/27 - 4
4-187542357-G-A c.5383C>T p.R1795* Nonsense 10/27 - 2
4-187542363-C-T c.5377G>A p.V1793M Missense 10/27 - 2
4-187542393-C-A c.5347G>T p.V1783L Missense 10/27 - 1
4-187542393-C-G c.5347G>C p.V1783L Missense 10/27 - 1
4-187542410-G-C c.5330C>G p.S1777* Nonsense 10/27 - 1
4-187542427-T-C c.5313A>G p.T1771= Synonymous 10/27 - 1
4-187542434-T-C c.5306A>G p.E1769G Missense 10/27 - 1
4-187542463-A-T c.5277T>A p.N1759K Missense 10/27 - 1
4-187542491-G-C c.5249C>G p.T1750R Missense 10/27 - 1
4-187542495-T-C c.5245A>G p.T1749A Missense 10/27 - 1
4-187542521-G-A c.5219C>T p.T1740I Missense 10/27 - 1
4-187542521-G-T c.5219C>A p.T1740N Missense 10/27 - 1
4-187542528-G-T c.5212C>A p.Q1738K Missense 10/27 - 1
4-187542549-G-C c.5191C>G p.P1731A Missense 10/27 - 1
4-187542558-C-T c.5182G>A p.E1728K Missense 10/27 - 1
4-187542567-G-T c.5173C>A p.L1725M Missense 10/27 - 1
4-187542566-AGGGCTTTCT-A c.5165_5173del p.Q1722_A1724del InFrameDeletion 10/27 - 1
4-187542585-T-C c.5155A>G p.I1719V Missense 10/27 - 1
4-187542599-G-A c.5141C>T p.P1714L Missense 10/27 - 1
4-187542642-C-A c.5098G>T p.E1700* Nonsense 10/27 - 2
4-187542653-G-A c.5087C>T p.S1696L Missense 10/27 - 1
4-187542669-C-A c.5071G>T p.A1691S Missense 10/27 - 2
4-187542671-G-T c.5069C>A p.T1690K Missense 10/27 - 1
4-187542683-AACGAAACT-A c.5050_5057del p.S1684Wfs*7 Frameshift 10/27 - 1
4-187542683-A-C c.5057T>G p.V1686G Missense 10/27 - 1
4-187542694-A-G c.5046T>C p.I1682= Synonymous 10/27 - 1
4-187542694-A-T c.5046T>A p.I1682= Synonymous 10/27 - 1
4-187542704-G-A c.5036C>T p.T1679I Missense 10/27 - 2
4-187542717-C-A c.5023G>T p.E1675* Nonsense 10/27 - 1
4-187542727-T-A c.5013A>T p.E1671D Missense 10/27 - 1
4-187542734-G-C c.5006C>G p.S1669* Nonsense 10/27 - 1
4-187542734-G-T c.5006C>A p.S1669* Nonsense 10/27 - 1
4-187542736-T-A c.5004A>T p.T1668= Synonymous 10/27 - 1
4-187542736-T-C c.5004A>G p.T1668= Synonymous 10/27 - 1
4-187542736-T-G c.5004A>C p.T1668= Synonymous 10/27 - 1
4-187542746-G-A c.4994C>T p.P1665L Missense 10/27 - 1
4-187542755-T-C c.4985A>G p.N1662S Missense 10/27 - 3
4-187542780-G-A c.4960C>T p.R1654C Missense 10/27 - 1
4-187542784-A-G c.4956T>C p.S1652= Synonymous 10/27 - 1
4-187542819-C-G c.4921G>C p.D1641H Missense 10/27 - 1
4-187542852-G-A c.4888C>T p.Q1630* Nonsense 10/27 - 1
4-187542860-C-T c.4880G>A p.R1627Q Missense 10/27 - 1
4-187542861-G-A c.4879C>T p.R1627* Nonsense 10/27 - 3
4-187542899-G-A c.4841C>T p.P1614L Missense 10/27 - 1
4-187542927-T-C c.4813A>G p.N1605D Missense 10/27 - 1
4-187549314-C-T c.4804G>A p.E1602K Missense 9/27 - 1
4-187549319-G-A c.4799C>T p.S1600L Missense 9/27 - 1
4-187549328-A-T c.4790T>A p.V1597E Missense 9/27 - 2
4-187549336-A-C c.4782T>G p.N1594K Missense 9/27 - 1
4-187549336-A-T c.4782T>A p.N1594K Missense 9/27 - 1
4-187549350-C-T c.4768G>A p.D1590N Missense 9/27 - 2
4-187549355-T-C c.4763A>G p.D1588G Missense 9/27 - 1
4-187549362-C-T c.4756G>A p.A1586T Missense 9/27 - 1
4-187549364-G-A c.4754C>T p.T1585M Missense 9/27 - 3
4-187549389-C-T c.4729G>A p.V1577I Missense 9/27 - 1
4-187549395-C-G c.4723G>C p.A1575P Missense 9/27 - 1
4-187549396-C-T c.4722G>A p.S1574= Synonymous 9/27 - 1
4-187549409-C-A c.4709G>T p.R1570L Missense 9/27 - 1
4-187549411-C-A c.4707G>T p.G1569= Synonymous 9/27 - 1
4-187549411-C-G c.4707G>C p.G1569= Synonymous 9/27 - 1
4-187549411-C-T c.4707G>A p.G1569= Synonymous 9/27 - 1
4-187549413-C-T c.4705G>A p.G1569R Missense 9/27 - 1
4-187549424-G-A c.4694C>T p.S1565F Missense 9/27 - 1
4-187549428-C-T c.4690G>A p.A1564T Missense 9/27 - 2
4-187549433-A-G c.4685T>C p.F1562S Missense 9/27 - 1
4-187549435-C-T c.4683G>A p.W1561* Nonsense 9/27 - 1
4-187549439-G-A c.4679C>T p.P1560L Missense 9/27 - 1
4-187549439-G-C c.4679C>G p.P1560R Missense 9/27 - 1
4-187549439-G-T c.4679C>A p.P1560Q Missense 9/27 - 1
4-187549443-C-T c.4675G>A p.A1559T Missense 9/27 - 3
4-187549458-C-T c.4660G>A p.D1554N Missense 9/27 - 2
4-187549470-C-T c.4648G>A p.V1550I Missense 9/27 - 3
4-187549484-A-G c.4634T>C p.F1545S Missense 9/27 - 1
4-187549490-C-T c.4628G>A p.R1543H Missense 9/27 - 1
4-187549491-G-A c.4627C>T p.R1543C Missense 9/27 - 1
4-187549500-G-A c.4618C>T p.P1540S Missense 9/27 - 1
4-187549510-A-AT c.4607dup p.D1536Efs*22 Frameshift 9/27 - 1
4-187549512-C-A c.4606G>T p.D1536Y Missense 9/27 - 1
4-187549514-C-T c.4604G>A p.R1535Q Missense 9/27 - 1
4-187549515-G-A c.4603C>T p.R1535* Nonsense 9/27 - 2
4-187549518-C-A c.4600G>T p.V1534L Missense 9/27 - 1
4-187549649-G-A c.4592C>T p.T1531M Missense 8/27 - 1
4-187549653-G-T c.4588C>A p.L1530I Missense 8/27 - 1
4-187549672-T-G c.4569A>C p.E1523D Missense 8/27 - 1
4-187549687-C-T c.4554G>A p.E1518= Synonymous 8/27 - 1
4-187549689-C-T c.4552G>A p.E1518K Missense 8/27 - 1
4-187549699-GA-TT c.4541_4542delinsAA p.L1514Q Missense 8/27 - 1
4-187549706-C-T c.4535G>A p.G1512D Missense 8/27 - 1
4-187549707-C-T c.4534G>A p.G1512S Missense 8/27 - 1
4-187549718-T-A c.4523A>T p.D1508V Missense 8/27 - 1
4-187549718-T-C c.4523A>G p.D1508G Missense 8/27 - 1
4-187549724-C-A c.4517G>T p.R1506L Missense 8/27 - 1
4-187549724-C-T c.4517G>A p.R1506H Missense 8/27 - 2
4-187549725-G-A c.4516C>T p.R1506C Missense 8/27 - 5
4-187549748-T-C c.4493A>G p.D1498G Missense 8/27 - 1
4-187549766-G-C c.4475C>G p.T1492S Missense 8/27 - 5
4-187549767-T-A c.4474A>T p.T1492S Missense 8/27 - 1
4-187549772-A-T c.4469T>A p.I1490N Missense 8/27 - 1
4-187549802-G-T c.4439C>A p.A1480D Missense 8/27 - 1
4-187549829-G-T c.4412C>A p.P1471Q Missense 8/27 - 1
4-187549830-G-A c.4411C>T p.P1471S Missense 8/27 - 2
4-187549861-AC-A c.4380del p.K1460Nfs*30 Frameshift 8/27 - 1
4-187549865-G-C c.4376C>G p.S1459* Nonsense 8/27 - 1
4-187549878-G-A c.4363C>T p.Q1455* Nonsense 8/27 - 1
4-187549880-G-A c.4361C>T p.P1454L Missense 8/27 - 1
4-187549883-C-T c.4358G>A p.R1453H Missense 8/27 - 1
4-187549884-G-A c.4357C>T p.R1453C Missense 8/27 - 2
4-187549893-T-C c.4348A>G p.N1450D Missense 8/27 - 1
4-187549895-G-T c.4346C>A p.T1449K Missense 8/27 - 1
4-187549901-A-G c.4340T>C p.I1447T Missense 8/27 - 1
4-187549904-A-G c.4337T>C p.V1446A Missense 8/27 - 1
4-187549917-C-T c.4324G>A p.V1442I Missense 8/27 - 1
4-187550697-C-T c.4324-780G>A - IntronicSNV - 7/26 1
4-187552576-C-T c.4323+2262G>A - IntronicSNV - 7/26 1
4-187554840-G-A c.4321C>T p.Q1441* Nonsense 7/27 - 1
4-187554864-C-G c.4297G>C p.D1433H Missense 7/27 - 1
4-187554873-C-T c.4288G>A p.E1430K Missense 7/27 - 1
4-187554878-G-T c.4283C>A p.T1428K Missense 7/27 - 1
4-187554914-G-A c.4247C>T p.P1416L Missense 7/27 - 1
4-187554921-C-T c.4240G>A p.A1414T Missense 7/27 - 1
4-187554935-C-T c.4226G>A p.G1409E Missense 7/27 - 1
4-187554954-C-A c.4207G>T p.D1403Y Missense 7/27 - 1
4-187554954-C-T c.4207G>A p.D1403N Missense 7/27 - 1
4-187554956-A-C c.4205T>G p.F1402C Missense 7/27 - 1
4-187554965-T-C c.4196A>G p.D1399G Missense 7/27 - 1
4-187554966-C-A c.4195G>T p.D1399Y Missense 7/27 - 1
4-187554969-A-G c.4192T>C p.Y1398H Missense 7/27 - 1
4-187554974-C-A c.4187G>T p.G1396V Missense 7/27 - 1
4-187557188-C-G c.4174G>C p.D1392H Missense 6/27 - 1
4-187557197-G-T c.4165C>A p.L1389I Missense 6/27 - 1
4-187557245-C-T c.4117G>A p.V1373I Missense 6/27 - 2
4-187557245-CG-C c.4116del p.V1373Lfs*4 Frameshift 6/27 - 1
4-187557272-TA-T c.4089del p.F1363Lfs*5 Frameshift 6/27 - 2
4-187557272-T-TA c.4089dup p.T1364Yfs*8 Frameshift 6/27 - 1
4-187557284-C-T c.4078G>A p.E1360K Missense 6/27 - 1
4-187557292-G-A c.4070C>T p.S1357L Missense 6/27 - 1
4-187557317-G-A c.4045C>T p.P1349S Missense 6/27 - 1
4-187557317-G-C c.4045C>G p.P1349A Missense 6/27 - 1
4-187557332-C-T c.4030G>A p.E1344K Missense 6/27 - 1
4-187557364-G-A c.3998C>T p.P1333L Missense 6/27 - 2
4-187557367-C-A c.3995G>T p.R1332L Missense 6/27 - 1
4-187557368-G-A c.3994C>T p.R1332C Missense 6/27 - 1
4-187557377-C-T c.3985G>A p.D1329N Missense 6/27 - 1
4-187557380-C-A c.3982G>T p.V1328F Missense 6/27 - 1
4-187557383-C-T c.3979G>A p.A1327T Missense 6/27 - 1
4-187557386-T-A c.3976A>T p.K1326* Nonsense 6/27 - 1
4-187557733-A-G c.3972+6T>C - IntronicSNV - 5/26 1
4-187557740-G-A c.3971C>T p.S1324L Missense 5/27 - 1
4-187557737-ACTGAAAGAATATCATATTCTCCAGCTG-A c.3947_3972+1del - SpliceDonorDeletion 5/27 - 1
4-187557750-C-T c.3961G>A p.D1321N Missense 5/27 - 1
4-187557767-G-A c.3944C>T p.S1315L Missense 5/27 - 1
4-187557771-A-T c.3940T>A p.F1314I Missense 5/27 - 1
4-187557773-C-T c.3938G>A p.R1313K Missense 5/27 - 1
4-187557781-C-T c.3930G>A p.S1310= Synonymous 5/27 - 1
4-187557782-G-A c.3929C>T p.S1310L Missense 5/27 - 1
4-187557792-C-A c.3919G>T p.G1307* Nonsense 5/27 - 1
4-187557800-G-T c.3911C>A p.P1304Q Missense 5/27 - 2
4-187557804-C-T c.3907G>A p.E1303K Missense 5/27 - 1
4-187557807-T-C c.3904A>G p.I1302V Missense 5/27 - 1
4-187557837-C-T c.3874G>A p.E1292K Missense 5/27 - 1
4-187557838-G-A c.3873C>T p.I1291= Synonymous 5/27 - 1
4-187557838-G-C c.3873C>G p.I1291M Missense 5/27 - 1
4-187557845-TAGG-T c.3863_3865del p.S1288del InFrameDeletion 5/27 - 1
4-187557873-C-A c.3838G>T p.D1280Y Missense 5/27 - 1
4-187557879-C-T c.3832G>A p.D1278N Missense 5/27 - 1
4-187557891-C-T c.3820G>A p.V1274I Missense 5/27 - 2
4-187557893-T-C c.3818A>G p.H1273R Missense 5/27 - 7
4-187557898-G-A c.3813C>T p.L1271= Synonymous 5/27 - 1
4-187557903-G-A c.3808C>T p.P1270S Missense 5/27 - 1
4-187557908-C-T c.3803G>A p.R1268Q Missense 5/27 - 4
4-187557909-G-A c.3802C>T p.R1268W Missense 5/27 - 1
4-187557939-C-A c.3772G>T p.E1258* Nonsense 5/27 - 1
4-187557941-C-T c.3770G>A p.R1257Q Missense 5/27 - 3
4-187557942-G-A c.3769C>T p.R1257W Missense 5/27 - 3
4-187557944-CT-C c.3767del p.E1256Gfs*20 Frameshift 5/27 - 1
4-187557974-A-C c.3737T>G p.L1246R Missense 5/27 - 1
4-187557981-G-A c.3730C>T p.Q1244* Nonsense 5/27 - 1
4-187557992-T-A c.3719A>T p.D1240V Missense 5/27 - 1
4-187557993-C-G c.3718G>C p.D1240H Missense 5/27 - 1
4-187558014-C-G c.3697G>C p.V1233L Missense 5/27 - 1
4-187558020-C-T c.3691G>A p.V1231I Missense 5/27 - 1
4-187558029-T-C c.3682A>G p.I1228V Missense 5/27 - 1
4-187558038-TG-T c.3672del p.K1225Nfs*9 Frameshift 5/27 - 1
4-187558046-C-A c.3665G>T p.S1222I Missense 5/27 - 1
4-187558050-C-A c.3661G>T p.G1221C Missense 5/27 - 2
4-187558062-C-A c.3649G>T p.V1217L Missense 5/27 - 1
4-187560876-C-A c.3642G>T p.E1214D Missense 4/27 - 1
4-187560876-C-G c.3642G>C p.E1214D Missense 4/27 - 1
4-187560902-C-A c.3616G>T p.E1206* Nonsense 4/27 - 2
4-187560902-C-T c.3616G>A p.E1206K Missense 4/27 - 1
4-187560904-C-A c.3614G>T p.R1205L Missense 4/27 - 1
4-187560904-C-T c.3614G>A p.R1205Q Missense 4/27 - 2
4-187560914-T-A c.3604A>T p.K1202* Nonsense 4/27 - 1
4-187560921-C-T c.3597G>A p.T1199= Synonymous 4/27 - 1
4-187560922-G-A c.3596C>T p.T1199M Missense 4/27 - 2
4-187560937-C-A c.3581G>T p.G1194V Missense 4/27 - 1
4-187560937-C-T c.3581G>A p.G1194D Missense 4/27 - 1
4-187561798-C-T c.3581-861G>A - IntronicSNV - 3/26 1
4-187565156-T-G c.3581-4219A>C - IntronicSNV - 3/26 1
4-187567469-T-C c.3581-6532A>G - IntronicSNV - 3/26 1
4-187577101-C-T c.3580+7352G>A - IntronicSNV - 3/26 1
4-187579550-C-T c.3580+4903G>A - IntronicSNV - 3/26 1
4-187580706-C-T c.3580+3747G>A - IntronicSNV - 3/26 1
4-187581476-G-T c.3580+2977C>A - IntronicSNV - 3/26 1
4-187584453-C-T c.3580G>A p.G1194S Missense 3/27 - 1
4-187584491-C-A c.3542G>T p.G1181V Missense 3/27 - 1
4-187584492-C-A c.3541G>T p.G1181* Nonsense 3/27 - 1
4-187584492-C-G c.3541G>C p.G1181R Missense 3/27 - 1
4-187584492-C-T c.3541G>A p.G1181R Missense 3/27 - 2
4-187584498-T-A c.3535A>T p.T1179S Missense 3/27 - 1
4-187584514-C-A c.3519G>T p.K1173N Missense 3/27 - 1
4-187584514-C-G c.3519G>C p.K1173N Missense 3/27 - 1
4-187584517-G-C c.3516C>G p.D1172E Missense 3/27 - 1
4-187584524-G-C c.3509C>G p.S1170C Missense 3/27 - 1
4-187584530-G-A c.3503C>T p.S1168L Missense 3/27 - 2
4-187584534-C-T c.3499G>A p.D1167N Missense 3/27 - 1
4-187584570-C-A c.3463G>T p.D1155Y Missense 3/27 - 1
4-187584587-A-G c.3446T>C p.M1149T Missense 3/27 - 1
4-187584594-C-T c.3439G>A p.E1147K Missense 3/27 - 2
4-187584596-G-T c.3437C>A p.P1146Q Missense 3/27 - 1
4-187584608-G-T c.3425C>A p.P1142H Missense 3/27 - 1
4-187584610-C-A c.3423G>T p.E1141D Missense 3/27 - 2
4-187584610-C-G c.3423G>C p.E1141D Missense 3/27 - 4
4-187584621-G-A c.3412C>T p.Q1138* Nonsense 3/27 - 2
4-187584623-G-A c.3410C>T p.P1137L Missense 3/27 - 1
4-187584635-T-C c.3398A>G p.N1133S Missense 3/27 - 1
4-187584659-A-G c.3374T>C p.I1125T Missense 3/27 - 1
4-187584663-C-T c.3370G>A p.E1124K Missense 3/27 - 1
4-187584684-C-A c.3349G>T p.V1117L Missense 3/27 - 1
4-187584684-C-T c.3349G>A p.V1117M Missense 3/27 - 1
4-187584689-C-T c.3344G>A p.G1115D Missense 3/27 - 1
4-187584693-G-A c.3340C>T p.Q1114* Nonsense 3/27 - 1
4-187584696-C-T c.3337G>A p.D1113N Missense 3/27 - 5
4-187584708-C-G c.3325G>C p.V1109L Missense 3/27 - 1
4-187584715-C-T c.3318G>A p.W1106* Nonsense 3/27 - 1
4-187584716-C-T c.3317G>A p.W1106* Nonsense 3/27 - 1
4-187584737-C-G c.3296G>C p.R1099P Missense 3/27 - 1
4-187584737-C-T c.3296G>A p.R1099H Missense 3/27 - 1
4-187584738-G-A c.3295C>T p.R1099C Missense 3/27 - 1
4-187584744-G-T c.3289C>A p.L1097M Missense 3/27 - 1
4-187584746-C-T c.3287G>A p.R1096Q Missense 3/27 - 1
4-187584747-G-A c.3286C>T p.R1096* Nonsense 3/27 - 2
4-187584755-G-A c.3278C>T p.T1093M Missense 3/27 - 1
4-187584755-G-C c.3278C>G p.T1093R Missense 3/27 - 1
4-187584757-C-A c.3276G>T p.E1092D Missense 3/27 - 1
4-187584760-T-C c.3273A>G p.I1091M Missense 3/27 - 1
4-187584771-C-G c.3266-4G>C - IntronicSNV - 2/26 1
4-187585952-T-C c.3266-1185A>G - IntronicSNV - 2/26 1
4-187586210-C-T c.3266-1443G>A - IntronicSNV - 2/26 1
4-187588477-G-A c.3266-3710C>T - IntronicSNV - 2/26 1
4-187589798-A-T c.3266-5031T>A - IntronicSNV - 2/26 1
4-187592223-T-A c.3266-7456A>T - IntronicSNV - 2/26 1
4-187601962-T-C c.3266-17195A>G - IntronicSNV - 2/26 1
4-187604429-C-T c.3266-19662G>A - IntronicSNV - 2/26 1
4-187627593-C-T c.3265+124G>A - IntronicSNV - 2/26 3
4-187627717-C-CT c.3264dup p.G1089Rfs*12 SpliceDonorInsertion 2/27 - 1
4-187627719-G-T c.3263C>A p.T1088K Missense 2/27 - 1
4-187627729-C-G c.3253G>C p.G1085R Missense 2/27 - 1
4-187627744-C-G c.3238G>C p.G1080R Missense 2/27 - 1
4-187627747-C-T c.3235G>A p.V1079I Missense 2/27 - 1
4-187627749-C-T c.3233G>A p.G1078D Missense 2/27 - 2
4-187627753-GAGCCA-G c.3225_3229del p.G1076Wfs*9 Frameshift 2/27 - 1
4-187627756-C-T c.3226G>A p.G1076S Missense 2/27 - 1
4-187627773-C-T c.3209G>A p.R1070Q Missense 2/27 - 1
4-187627774-G-A c.3208C>T p.R1070* Nonsense 2/27 - 1
4-187627779-TCCC-T c.3200_3202del p.G1067del InFrameDeletion 2/27 - 1
4-187627786-C-T c.3196G>A p.D1066N Missense 2/27 - 1
4-187627788-C-T c.3194G>A p.R1065K Missense 2/27 - 1
4-187627792-T-C c.3190A>G p.R1064G Missense 2/27 - 7
4-187627795-C-T c.3187G>A p.A1063T Missense 2/27 - 1
4-187627801-C-T c.3181G>A p.E1061K Missense 2/27 - 1
4-187627802-A-T c.3180T>A p.D1060E Missense 2/27 - 1
4-187627818-G-C c.3164C>G p.T1055R Missense 2/27 - 1
4-187627830-G-T c.3152C>A p.S1051* Nonsense 2/27 - 1
4-187627834-C-A c.3148G>T p.G1050C Missense 2/27 - 2
4-187627834-C-G c.3148G>C p.G1050R Missense 2/27 - 1
4-187627863-T-C c.3119A>G p.K1040R Missense 2/27 - 1
4-187627874-G-C c.3108C>G p.S1036R Missense 2/27 - 1
4-187627874-G-T c.3108C>A p.S1036R Missense 2/27 - 1
4-187627876-T-G c.3106A>C p.S1036R Missense 2/27 - 1
4-187627885-CGGGT-C c.3093_3096del p.P1032Cfs*11 Frameshift 2/27 - 4
4-187627901-C-A c.3081G>T p.E1027D Missense 2/27 - 1
4-187627901-C-G c.3081G>C p.E1027D Missense 2/27 - 1
4-187627919-C-T c.3063G>A p.E1021= Synonymous 2/27 - 1
4-187627924-C-G c.3058G>C p.V1020L Missense 2/27 - 1
4-187627924-C-T c.3058G>A p.V1020I Missense 2/27 - 1
4-187627974-G-A c.3008C>T p.A1003V Missense 2/27 - 3
4-187627975-C-T c.3007G>A p.A1003T Missense 2/27 - 1
4-187627996-C-T c.2986G>A p.V996M Missense 2/27 - 1
4-187628004-T-C c.2978A>G p.K993R Missense 2/27 - 1
4-187628023-G-A c.2959C>T p.Q987* Nonsense 2/27 - 1
4-187628033-AAC-CAT c.2947_2949delinsATG p.V983M Missense 2/27 - 1
4-187628037-G-A c.2945C>T p.A982V Missense 2/27 - 1
4-187628074-C-G c.2908G>C p.G970R Missense 2/27 - 1
4-187628074-C-T c.2908G>A p.G970R Missense 2/27 - 1
4-187628108-C-A c.2874G>T p.Q958H Missense 2/27 - 1
4-187628108-C-G c.2874G>C p.Q958H Missense 2/27 - 1
4-187628125-C-T c.2857G>A p.D953N Missense 2/27 - 1
4-187628136-A-G c.2846T>C p.L949S Missense 2/27 - 1
4-187628142-CAT-C c.2839_2840del p.M947Vfs*8 Frameshift 2/27 - 1
4-187628153-T-A c.2829A>T p.G943= Synonymous 2/27 - 1
4-187628153-T-C c.2829A>G p.G943= Synonymous 2/27 - 1
4-187628153-T-G c.2829A>C p.G943= Synonymous 2/27 - 1
4-187628155-C-A c.2827G>T p.G943* Nonsense 2/27 - 1
4-187628167-C-G c.2815G>C p.D939H Missense 2/27 - 1
4-187628172-C-T c.2810G>A p.R937Q Missense 2/27 - 2
4-187628173-G-A c.2809C>T p.R937* Nonsense 2/27 - 3
4-187628176-C-T c.2806G>A p.V936I Missense 2/27 - 1
4-187628184-C-T c.2798G>A p.R933H Missense 2/27 - 1
4-187628194-G-C c.2788C>G p.P930A Missense 2/27 - 1
4-187628220-T-G c.2762A>C p.N921T Missense 2/27 - 1
4-187628235-G-C c.2747C>G p.S916* Nonsense 2/27 - 1
4-187628235-G-T c.2747C>A p.S916* Nonsense 2/27 - 1
4-187628245-C-T c.2737G>A p.V913M Missense 2/27 - 1
4-187628243-CACA-C c.2736_2738del p.V913del InFrameDeletion 2/27 - 1
4-187628248-C-T c.2734G>A p.V912I Missense 2/27 - 4
4-187628266-G-A c.2716C>T p.Q906* Nonsense 2/27 - 2
4-187628268-G-T c.2714C>A p.P905H Missense 2/27 - 1
4-187628298-A-G c.2684T>C p.I895T Missense 2/27 - 1
4-187628304-A-T c.2678T>A p.L893* Nonsense 2/27 - 1
4-187628314-C-T c.2668G>A p.E890K Missense 2/27 - 1
4-187628320-G-A c.2662C>T p.Q888* Nonsense 2/27 - 1
4-187628326-C-T c.2656G>A p.E886K Missense 2/27 - 1
4-187628329-G-A c.2653C>T p.R885* Nonsense 2/27 - 1
4-187628332-C-A c.2650G>T p.D884Y Missense 2/27 - 1
4-187628340-C-T c.2642G>A p.R881H Missense 2/27 - 3
4-187628341-G-A c.2641C>T p.R881C Missense 2/27 - 1
4-187628365-C-T c.2617G>A p.V873M Missense 2/27 - 1
4-187628366-G-A c.2616C>T p.S872= Synonymous 2/27 - 2
4-187628367-C-T c.2615G>A p.S872N Missense 2/27 - 2
4-187628374-T-C c.2608A>G p.I870V Missense 2/27 - 1
4-187628376-G-T c.2606C>A p.S869* Nonsense 2/27 - 1
4-187628380-ATG-A c.2600_2601del p.T867Ifs*4 Frameshift 2/27 - 1
4-187628392-C-T c.2590G>A p.D864N Missense 2/27 - 1
4-187628398-C-G c.2584G>C p.V862L Missense 2/27 - 6
4-187628398-C-T c.2584G>A p.V862I Missense 2/27 - 1
4-187628400-A-T c.2582T>A p.I861N Missense 2/27 - 1
4-187628403-G-T c.2579C>A p.S860* Nonsense 2/27 - 1
4-187628413-C-T c.2569G>A p.V857M Missense 2/27 - 1
4-187628419-C-G c.2563G>C p.G855R Missense 2/27 - 2
4-187628419-C-T c.2563G>A p.G855R Missense 2/27 - 3
4-187628432-G-C c.2550C>G p.D850E Missense 2/27 - 1
4-187628432-G-T c.2550C>A p.D850E Missense 2/27 - 1
4-187628467-T-G c.2515A>C p.S839R Missense 2/27 - 1
4-187628477-CCTT-C c.2503_2505del p.K835del InFrameDeletion 2/27 - 1
4-187628491-C-T c.2491G>A p.V831M Missense 2/27 - 1
4-187628507-C-G c.2475G>C p.E825D Missense 2/27 - 1
4-187628518-A-C c.2464T>G p.F822V Missense 2/27 - 1
4-187628542-C-T c.2440G>A p.D814N Missense 2/27 - 1
4-187628556-T-C c.2426A>G p.H809R Missense 2/27 - 1
4-187628565-C-T c.2417G>A p.R806H Missense 2/27 - 3
4-187628566-G-A c.2416C>T p.R806C Missense 2/27 - 1
4-187628577-T-A c.2405A>T p.K802M Missense 2/27 - 1
4-187628581-G-A c.2401C>T p.Q801* Nonsense 2/27 - 1
4-187628602-C-T c.2380G>A p.V794I Missense 2/27 - 1
4-187628604-G-A c.2378C>T p.T793I Missense 2/27 - 2
4-187628620-A-G c.2362T>C p.Y788H Missense 2/27 - 1
4-187628631-G-A c.2351C>T p.T784I Missense 2/27 - 1
4-187628651-T-A c.2331A>T p.L777F Missense 2/27 - 1
4-187628658-T-C c.2324A>G p.K775R Missense 2/27 - 1
4-187628667-C-A c.2315G>T p.G772V Missense 2/27 - 1
4-187628667-C-T c.2315G>A p.G772E Missense 2/27 - 1
4-187628676-A-G c.2306T>C p.M769T Missense 2/27 - 1
4-187628736-T-C c.2246A>G p.N749S Missense 2/27 - 1
4-187628746-T-C c.2236A>G p.T746A Missense 2/27 - 1
4-187628747-G-A c.2235C>T p.D745= Synonymous 2/27 - 1
4-187628748-T-G c.2234A>C p.D745A Missense 2/27 - 1
4-187628774-T-TA c.2207dup p.I737Nfs*7 Frameshift 2/27 - 1
4-187628809-G-A c.2173C>T p.Q725* Nonsense 2/27 - 1
4-187628814-C-A c.2168G>T p.G723V Missense 2/27 - 1
4-187628814-C-G c.2168G>C p.G723A Missense 2/27 - 1
4-187628820-G-T c.2162C>A p.P721Q Missense 2/27 - 1
4-187628841-G-T c.2141C>A p.P714Q Missense 2/27 - 2
4-187628886-A-T c.2096T>A p.V699E Missense 2/27 - 1
4-187628898-T-G c.2084A>C p.N695T Missense 2/27 - 1
4-187628899-T-G c.2083A>C p.N695H Missense 2/27 - 1
4-187628903-T-A c.2079A>T p.L693F Missense 2/27 - 1
4-187628903-T-G c.2079A>C p.L693F Missense 2/27 - 1
4-187628904-A-C c.2078T>G p.L693* Nonsense 2/27 - 1
4-187628920-G-T c.2062C>A p.L688M Missense 2/27 - 1
4-187628928-CTCTGCCAGCATTTTGGCAA-C c.2036_2054del p.V679Gfs*42 Frameshift 2/27 - 1
4-187628929-C-CA c.2052_2053insT p.E685* Nonsense 2/27 - 1
4-187628946-AACACCAGT-A c.2029_2036del p.T677Cfs*13 Frameshift 2/27 - 1
4-187628951-A-C c.2031T>G p.T677= Synonymous 2/27 - 1
4-187628951-A-G c.2031T>C p.T677= Synonymous 2/27 - 1
4-187628951-A-T c.2031T>A p.T677= Synonymous 2/27 - 1
4-187628974-C-A c.2008G>T p.V670L Missense 2/27 - 1
4-187628974-C-G c.2008G>C p.V670L Missense 2/27 - 1
4-187628976-A-G c.2006T>C p.L669P Missense 2/27 - 1
4-187628979-T-A c.2003A>T p.K668M Missense 2/27 - 1
4-187629015-G-A c.1967C>T p.P656L Missense 2/27 - 1
4-187629015-G-T c.1967C>A p.P656Q Missense 2/27 - 1
4-187629034-C-T c.1948G>A p.G650R Missense 2/27 - 1
4-187629042-G-A c.1940C>T p.A647V Missense 2/27 - 1
4-187629045-G-T c.1937C>A p.T646K Missense 2/27 - 1
4-187629072-T-A c.1910A>T p.K637M Missense 2/27 - 1
4-187629076-C-T c.1906G>A p.A636T Missense 2/27 - 1
4-187629089-C-A c.1893G>T p.M631I Missense 2/27 - 1
4-187629089-C-G c.1893G>C p.M631I Missense 2/27 - 1
4-187629089-C-T c.1893G>A p.M631I Missense 2/27 - 1
4-187629096-G-T c.1886C>A p.S629* Nonsense 2/27 - 1
4-187629098-TCG-ACA c.1882_1884delinsTGT p.R628C Missense 2/27 - 1
4-187629100-G-A c.1882C>T p.R628* Nonsense 2/27 - 2
4-187629140-G-C c.1842C>G p.F614L Missense 2/27 - 6
4-187629140-G-T c.1842C>A p.F614L Missense 2/27 - 4
4-187629142-A-G c.1840T>C p.F614L Missense 2/27 - 4
4-187629145-C-T c.1837G>A p.D613N Missense 2/27 - 2
4-187629171-T-A c.1811A>T p.Y604F Missense 2/27 - 1
4-187629175-G-T c.1807C>A p.Q603K Missense 2/27 - 1
4-187629176-T-A c.1806A>T p.V602= Synonymous 2/27 - 1
4-187629176-T-C c.1806A>G p.V602= Synonymous 2/27 - 1
4-187629176-T-G c.1806A>C p.V602= Synonymous 2/27 - 1
4-187629184-G-C c.1798C>G p.Q600E Missense 2/27 - 1
4-187629190-C-A c.1792G>T p.E598* Nonsense 2/27 - 1
4-187629195-G-A c.1787C>T p.A596V Missense 2/27 - 1
4-187629198-T-C c.1784A>G p.D595G Missense 2/27 - 1
4-187629198-T-G c.1784A>C p.D595A Missense 2/27 - 1
4-187629199-CA-C c.1782del p.I594Mfs*24 Frameshift 2/27 - 1
4-187629207-G-T c.1775C>A p.S592Y Missense 2/27 - 1
4-187629211-C-G c.1771G>C p.V591L Missense 2/27 - 1
4-187629211-C-T c.1771G>A p.V591I Missense 2/27 - 1
4-187629222-T-C c.1760A>G p.Q587R Missense 2/27 - 1
4-187629223-G-T c.1759C>A p.Q587K Missense 2/27 - 2
4-187629243-C-A c.1739G>T p.R580I Missense 2/27 - 1
4-187629273-T-C c.1709A>G p.E570G Missense 2/27 - 1
4-187629274-C-A c.1708G>T p.E570* Nonsense 2/27 - 1
4-187629274-C-T c.1708G>A p.E570K Missense 2/27 - 1
4-187629296-C-A c.1686G>T p.L562F Missense 2/27 - 1
4-187629296-C-G c.1686G>C p.L562F Missense 2/27 - 1
4-187629299-G-C c.1683C>G p.N561K Missense 2/27 - 1
4-187629336-C-A c.1646G>T p.R549L Missense 2/27 - 1
4-187629335-C-A c.1647G>T p.R549= Synonymous 2/27 - 1
4-187629335-C-G c.1647G>C p.R549= Synonymous 2/27 - 1
4-187629335-C-T c.1647G>A p.R549= Synonymous 2/27 - 1
4-187629337-G-A c.1645C>T p.R549W Missense 2/27 - 1
4-187629337-G-T c.1645C>A p.R549= Synonymous 2/27 - 1
4-187629339-C-A c.1643G>T p.R548L Missense 2/27 - 1
4-187629339-C-T c.1643G>A p.R548H Missense 2/27 - 1
4-187629341-G-A c.1641C>T p.Y547= Synonymous 2/27 - 1
4-187629341-G-C c.1641C>G p.Y547* Nonsense 2/27 - 1
4-187629341-G-T c.1641C>A p.Y547* Nonsense 2/27 - 1
4-187629345-G-A c.1637C>T p.P546L Missense 2/27 - 1
4-187629345-G-T c.1637C>A p.P546Q Missense 2/27 - 1
4-187629351-C-T c.1631G>A p.G544D Missense 2/27 - 1
4-187629352-C-T c.1630G>A p.G544S Missense 2/27 - 2
4-187629353-C-A c.1629G>T p.W543C Missense 2/27 - 1
4-187629353-C-T c.1629G>A p.W543* Nonsense 2/27 - 1
4-187629354-C-T c.1628G>A p.W543* Nonsense 2/27 - 1
4-187629372-CT-TG c.1609_1610delinsCA p.R537Q Missense 2/27 - 1
4-187629374-C-CA c.1607dup p.R537Efs*25 Frameshift 2/27 - 1
4-187629378-G-T c.1604C>A p.T535N Missense 2/27 - 1
4-187629387-C-T c.1595G>A p.R532Q Missense 2/27 - 1
4-187629396-A-G c.1586T>C p.L529P Missense 2/27 - 1
4-187629414-T-A c.1568A>T p.E523V Missense 2/27 - 1
4-187629420-G-A c.1562C>T p.T521M Missense 2/27 - 1
4-187629423-C-G c.1559G>C p.S520T Missense 2/27 - 1
4-187629423-C-T c.1559G>A p.S520N Missense 2/27 - 1
4-187629427-C-T c.1555G>A p.V519M Missense 2/27 - 1
4-187629428-G-A c.1554C>T p.A518= Synonymous 2/27 - 1
4-187629450-G-A c.1532C>T p.A511V Missense 2/27 - 2
4-187629457-G-A c.1525C>T p.P509S Missense 2/27 - 1
4-187629460-C-T c.1522G>A p.V508M Missense 2/27 - 1
4-187629475-C-T c.1507G>A p.A503T Missense 2/27 - 1
4-187629490-C-T c.1492G>A p.V498M Missense 2/27 - 1
4-187629492-T-A c.1490A>T p.Y497F Missense 2/27 - 1
4-187629497-G-A c.1485C>T p.N495= Synonymous 2/27 - 2
4-187629502-C-T c.1480G>A p.E494K Missense 2/27 - 1
4-187629512-A-C c.1470T>G p.P490= Synonymous 2/27 - 1
4-187629512-A-G c.1470T>C p.P490= Synonymous 2/27 - 1
4-187629512-A-T c.1470T>A p.P490= Synonymous 2/27 - 1
4-187629520-C-T c.1462G>A p.V488I Missense 2/27 - 1
4-187629536-G-A c.1446C>T p.V482= Synonymous 2/27 - 1
4-187629536-G-C c.1446C>G p.V482= Synonymous 2/27 - 1
4-187629536-G-T c.1446C>A p.V482= Synonymous 2/27 - 1
4-187629538-C-G c.1444G>C p.V482L Missense 2/27 - 2
4-187629538-C-T c.1444G>A p.V482I Missense 2/27 - 6
4-187629555-A-G c.1427T>C p.V476A Missense 2/27 - 1
4-187629556-C-T c.1426G>A p.V476M Missense 2/27 - 1
4-187629557-G-A c.1425C>T p.N475= Synonymous 2/27 - 1
4-187629567-A-C c.1415T>G p.F472C Missense 2/27 - 1
4-187629574-C-T c.1408G>A p.A470T Missense 2/27 - 1
4-187629583-C-A c.1399G>T p.A467S Missense 2/27 - 1
4-187629628-T-C c.1354A>G p.K452E Missense 2/27 - 1
4-187629645-G-A c.1337C>T p.S446F Missense 2/27 - 1
4-187629648-G-T c.1334C>A p.A445E Missense 2/27 - 1
4-187629654-C-A c.1328G>T p.R443I Missense 2/27 - 1
4-187629658-C-T c.1324G>A p.D442N Missense 2/27 - 1
4-187629677-T-A c.1305A>T p.E435D Missense 2/27 - 1
4-187629677-T-G c.1305A>C p.E435D Missense 2/27 - 1
4-187629706-C-T c.1276G>A p.V426I Missense 2/27 - 2
4-187629722-AATGAGACCAGTGTTGTAATTTAAACTG-A c.1233_1259del p.L413_S421del InFrameDeletion 2/27 - 1
4-187629737-G-T c.1245C>A p.Y415* Nonsense 2/27 - 1
4-187629770-A-C c.1212T>G p.S404R Missense 2/27 - 9
4-187629770-A-G c.1212T>C p.S404= Synonymous 2/27 - 2
4-187629770-A-T c.1212T>A p.S404R Missense 2/27 - 5
4-187629772-T-G c.1210A>C p.S404R Missense 2/27 - 5
4-187629777-A-AGCGCGCTGCAGGTGGAGCAGCTGGAGCCGCCGAGGTGCGTCG c.1204_1205insCGACGCACCTCGGCGGCTCCAGCTGCTCCACCTGCAGCGCGC p.F402delinsSTHLGGSSCSTCSAL MultiAAMissense 2/27 - 1
4-187629785-CCT-ATG c.1195_1197delinsCAT p.R399H Missense 2/27 - 1
4-187629786-C-A c.1196G>T p.R399M Missense 2/27 - 1
4-187629821-G-A c.1161C>T p.V387= Synonymous 2/27 - 1
4-187629821-G-C c.1161C>G p.V387= Synonymous 2/27 - 1
4-187629821-G-T c.1161C>A p.V387= Synonymous 2/27 - 1
4-187629834-T-G c.1148A>C p.N383T Missense 2/27 - 1
4-187629835-T-C c.1147A>G p.N383D Missense 2/27 - 1
4-187629839-A-C c.1143T>G p.P381= Synonymous 2/27 - 1
4-187629839-A-G c.1143T>C p.P381= Synonymous 2/27 - 1
4-187629839-A-T c.1143T>A p.P381= Synonymous 2/27 - 1
4-187629884-C-A c.1098G>T p.K366N Missense 2/27 - 1
4-187629884-C-G c.1098G>C p.K366N Missense 2/27 - 1
4-187629900-T-C c.1082A>G p.K361R Missense 2/27 - 1
4-187629931-T-A c.1051A>T p.K351* Nonsense 2/27 - 1
4-187629946-G-A c.1036C>T p.Q346* Nonsense 2/27 - 1
4-187629948-G-C c.1034C>G p.P345R Missense 2/27 - 1
4-187629949-G-A c.1033C>T p.P345S Missense 2/27 - 1
4-187629951-G-A c.1031C>T p.P344L Missense 2/27 - 2
4-187629951-G-T c.1031C>A p.P344Q Missense 2/27 - 1
4-187629955-T-C c.1027A>G p.T343A Missense 2/27 - 1
4-187629973-G-A c.1009C>T p.Q337* Nonsense 2/27 - 1
4-187629978-G-T c.1004C>A p.T335K Missense 2/27 - 1
4-187629979-T-G c.1003A>C p.T335P Missense 2/27 - 1
4-187629982-G-A c.1000C>T p.L334F Missense 2/27 - 1
4-187629986-G-T c.996C>A p.Y332* Nonsense 2/27 - 1
4-187629988-A-G c.994T>C p.Y332H Missense 2/27 - 1
4-187629991-C-T c.991G>A p.G331S Missense 2/27 - 1
4-187629992-G-A c.990C>T p.F330= Synonymous 2/27 - 1
4-187630004-G-C c.978C>G p.D326E Missense 2/27 - 1
4-187630006-C-A c.976G>T p.D326Y Missense 2/27 - 1
4-187630007-C-T c.975G>A p.W325* Nonsense 2/27 - 1
4-187630008-C-T c.974G>A p.W325* Nonsense 2/27 - 2
4-187630012-C-A c.970G>T p.D324Y Missense 2/27 - 2
4-187630028-TT-CA c.953_954delinsTG p.K318M Missense 2/27 - 1
4-187630031-G-A c.951C>T p.V317= Synonymous 2/27 - 1
4-187630031-G-C c.951C>G p.V317= Synonymous 2/27 - 1
4-187630031-G-T c.951C>A p.V317= Synonymous 2/27 - 1
4-187630032-A-G c.950T>C p.V317A Missense 2/27 - 1
4-187630042-C-A c.940G>T p.E314* Nonsense 2/27 - 1
4-187630043-C-A c.939G>T p.K313N Missense 2/27 - 1
4-187630043-C-G c.939G>C p.K313N Missense 2/27 - 1
4-187630047-C-T c.935G>A p.S312N Missense 2/27 - 1
4-187630066-C-T c.916G>A p.V306M Missense 2/27 - 1
4-187630082-GAGA-G c.897_899del p.L300del InFrameDeletion 2/27 - 1
4-187630085-AAG-CAT c.895_897delinsATG p.L299M Missense 2/27 - 1
4-187630099-C-T c.883G>A p.V295M Missense 2/27 - 1
4-187630123-C-A c.859G>T p.G287C Missense 2/27 - 2
4-187630125-T-C c.857A>G p.N286S Missense 2/27 - 4
4-187630132-C-T c.850G>A p.G284S Missense 2/27 - 1
4-187630135-G-A c.847C>T p.Q283* Nonsense 2/27 - 1
4-187630143-T-C c.839A>G p.D280G Missense 2/27 - 1
4-187630176-C-T c.806G>A p.R269K Missense 2/27 - 1
4-187630179-T-C c.803A>G p.D268G Missense 2/27 - 1
4-187630180-C-A c.802G>T p.D268Y Missense 2/27 - 1
4-187630215-A-G c.767T>C p.V256A Missense 2/27 - 1
4-187630219-G-A c.763C>T p.P255S Missense 2/27 - 1
4-187630234-C-T c.748G>A p.A250T Missense 2/27 - 1
4-187630238-T-A c.744A>T p.E248D Missense 2/27 - 1
4-187630238-T-G c.744A>C p.E248D Missense 2/27 - 1
4-187630246-G-A c.736C>T p.H246Y Missense 2/27 - 1
4-187630251-G-A c.731C>T p.T244M Missense 2/27 - 2
4-187630260-GC-G c.721del p.A241Pfs*3 Frameshift 2/27 - 1
4-187630262-C-A c.720G>T p.M240I Missense 2/27 - 1
4-187630262-C-G c.720G>C p.M240I Missense 2/27 - 1
4-187630262-C-T c.720G>A p.M240I Missense 2/27 - 1
4-187630267-T-C c.715A>G p.S239G Missense 2/27 - 1
4-187630271-G-A c.711C>T p.I237= Synonymous 2/27 - 1
4-187630271-G-T c.711C>A p.I237= Synonymous 2/27 - 1
4-187630282-TC-T c.699del p.S234Afs*10 Frameshift 2/27 - 2
4-187630291-A-T c.691T>A p.L231M Missense 2/27 - 1
4-187630299-C-T c.683G>A p.G228D Missense 2/27 - 1
4-187630302-C-T c.680G>A p.R227H Missense 2/27 - 1
4-187630303-G-A c.679C>T p.R227C Missense 2/27 - 2
4-187630303-G-T c.679C>A p.R227S Missense 2/27 - 1
4-187630312-C-T c.670G>A p.A224T Missense 2/27 - 1
4-187630315-G-A c.667C>T p.L223F Missense 2/27 - 1
4-187630324-T-A c.658A>T p.M220L Missense 2/27 - 1
4-187630324-T-G c.658A>C p.M220L Missense 2/27 - 1
4-187630327-C-A c.655G>T p.E219* Nonsense 2/27 - 1
4-187630346-GGTAAT-G c.632_636del p.D211Afs*7 Frameshift 2/27 - 1
4-187630347-T-A c.635A>T p.Y212F Missense 2/27 - 1
4-187630350-T-G c.632A>C p.D211A Missense 2/27 - 1
4-187630360-C-A c.622G>T p.G208C Missense 2/27 - 1
4-187630374-A-G c.608T>C p.V203A Missense 2/27 - 1
4-187630376-AC-CT c.605_606delinsAG p.G202E Missense 2/27 - 1
4-187630386-G-A c.596C>T p.P199L Missense 2/27 - 1
4-187630386-G-T c.596C>A p.P199Q Missense 2/27 - 2
4-187630400-C-T c.582G>A p.M194I Missense 2/27 - 1
4-187630405-C-T c.577G>A p.D193N Missense 2/27 - 1
4-187630407-G-A c.575C>T p.T192I Missense 2/27 - 1
4-187630411-G-A c.571C>T p.R191* Nonsense 2/27 - 2
4-187630414-C-A c.568G>T p.D190Y Missense 2/27 - 1
4-187630414-C-T c.568G>A p.D190N Missense 2/27 - 1
4-187630413-TCTTTAAAA-T c.561_568del p.S187Rfs*20 Frameshift 2/27 - 1
4-187630425-T-C c.557A>G p.Y186C Missense 2/27 - 1
4-187630425-T-G c.557A>C p.Y186S Missense 2/27 - 1
4-187630427-G-C c.555C>G p.Y185* Nonsense 2/27 - 1
4-187630427-G-T c.555C>A p.Y185* Nonsense 2/27 - 1
4-187630435-C-T c.547G>A p.E183K Missense 2/27 - 1
4-187630437-C-T c.545G>A p.G182E Missense 2/27 - 1
4-187630438-C-T c.544G>A p.G182R Missense 2/27 - 2
4-187630446-C-T c.536G>A p.G179E Missense 2/27 - 1
4-187630451-G-C c.531C>G p.D177E Missense 2/27 - 1
4-187630451-G-T c.531C>A p.D177E Missense 2/27 - 1
4-187630459-C-T c.523G>A p.D175N Missense 2/27 - 1
4-187630460-C-T c.522G>A p.T174= Synonymous 2/27 - 1
4-187630465-C-T c.517G>A p.A173T Missense 2/27 - 1
4-187630469-G-A c.513C>T p.V171= Synonymous 2/27 - 1
4-187630469-G-C c.513C>G p.V171= Synonymous 2/27 - 1
4-187630469-G-T c.513C>A p.V171= Synonymous 2/27 - 1
4-187630473-C-T c.509G>A p.R170K Missense 2/27 - 1
4-187630474-T-A c.508A>T p.R170* Nonsense 2/27 - 1
4-187630477-C-T c.505G>A p.A169T Missense 2/27 - 1
4-187630488-C-T c.494G>A p.R165K Missense 2/27 - 1
4-187630491-A-T c.491T>A p.I164K Missense 2/27 - 1
4-187630503-T-C c.479A>G p.E160G Missense 2/27 - 1
4-187630507-G-T c.475C>A p.P159T Missense 2/27 - 1
4-187630507-G-GT c.474dup p.P159Tfs*2 Frameshift 2/27 - 1
4-187630516-C-CA c.465_466insT p.V156Cfs*5 Frameshift 2/27 - 1
4-187630516-C-T c.466G>A p.V156I Missense 2/27 - 4
4-187630524-G-A c.458C>T p.S153L Missense 2/27 - 1
4-187630527-G-A c.455C>T p.T152I Missense 2/27 - 1
4-187630530-G-T c.452C>A p.P151H Missense 2/27 - 1
4-187630531-G-A c.451C>T p.P151S Missense 2/27 - 1
4-187630531-G-T c.451C>A p.P151T Missense 2/27 - 1
4-187630533-G-C c.449C>G p.S150* Nonsense 2/27 - 1
4-187630533-G-T c.449C>A p.S150* Nonsense 2/27 - 1
4-187630535-G-C c.447C>G p.F149L Missense 2/27 - 1
4-187630542-G-A c.440C>T p.P147L Missense 2/27 - 1
4-187630544-TC-CA c.437_438delinsTG p.R146M Missense 2/27 - 2
4-187630548-AA-GG c.433_434delinsCC p.L145P Missense 2/27 - 1
4-187630550-G-C c.432C>G p.D144E Missense 2/27 - 1
4-187630550-G-GT c.431dup p.D144Efs*17 Frameshift 2/27 - 1
4-187630552-C-T c.430G>A p.D144N Missense 2/27 - 1
4-187630573-C-A c.409G>T p.V137L Missense 2/27 - 2
4-187630578-A-T c.404T>A p.V135D Missense 2/27 - 1
4-187630586-TC-AT c.395_396delinsAT p.R132H Missense 2/27 - 1
4-187630590-G-A c.392C>T p.A131V Missense 2/27 - 3
4-187630592-C-A c.390G>T p.E130D Missense 2/27 - 1
4-187630592-C-G c.390G>C p.E130D Missense 2/27 - 1
4-187630594-C-T c.388G>A p.E130K Missense 2/27 - 1
4-187630597-C-A c.385G>T p.V129L Missense 2/27 - 3
4-187630597-C-G c.385G>C p.V129L Missense 2/27 - 3
4-187630598-A-C c.384T>G p.N128K Missense 2/27 - 1
4-187630598-A-T c.384T>A p.N128K Missense 2/27 - 1
4-187630600-T-C c.382A>G p.N128D Missense 2/27 - 1
4-187630612-C-A c.370G>T p.E124* Nonsense 2/27 - 1
4-187630615-G-A c.367C>T p.L123F Missense 2/27 - 1
4-187630623-A-G c.359T>C p.V120A Missense 2/27 - 1
4-187630652-TCT-ATG c.328_330delinsCAT p.R110H Missense 2/27 - 1
4-187630653-C-T c.329G>A p.R110K Missense 2/27 - 1
4-187630653-CT-GG c.328_329delinsCC p.R110P Missense 2/27 - 1
4-187630657-T-G c.325A>C p.N109H Missense 2/27 - 1
4-187630684-T-C c.298A>G p.T100A Missense 2/27 - 1
4-187630691-TCT-ACA c.289_291delinsTGT p.R97C Missense 2/27 - 1
4-187630695-AG-TA c.286_287delinsTA p.L96* Nonsense 2/27 - 1
4-187630696-G-T c.286C>A p.L96I Missense 2/27 - 1
4-187630697-A-C c.285T>G p.F95L Missense 2/27 - 1
4-187630697-A-T c.285T>A p.F95L Missense 2/27 - 1
4-187630699-A-G c.283T>C p.F95L Missense 2/27 - 1
4-187630706-G-T c.276C>A p.D92E Missense 2/27 - 1
4-187630711-C-T c.271G>A p.G91R Missense 2/27 - 1
4-187630716-A-G c.266T>C p.I89T Missense 2/27 - 1
4-187630719-T-C c.263A>G p.Y88C Missense 2/27 - 2
4-187630726-C-T c.256G>A p.E86K Missense 2/27 - 1
4-187630731-T-C c.251A>G p.K84R Missense 2/27 - 1
4-187630738-G-T c.244C>A p.L82M Missense 2/27 - 1
4-187630748-G-A c.234C>T p.D78= Synonymous 2/27 - 1
4-187630753-C-A c.229G>T p.G77* Nonsense 2/27 - 1
4-187630767-T-TGATTAAAAAAAAAATTCCCTCTGAATCTTTTTGGAAGGATCACTGAGGG c.214_215insCCCTCAGTGATCCTTCCAAAAAGATTCAGAGGGAATTTTTTTTTTAATC p.Y72Sfs*16 Frameshift 2/27 - 1
4-187630780-A-T c.202T>A p.W68R Missense 2/27 - 1
4-187630783-C-A c.199G>T p.A67S Missense 2/27 - 1
4-187630813-C-T c.169G>A p.V57I Missense 2/27 - 1
4-187630816-G-T c.166C>A p.P56T Missense 2/27 - 1
4-187630822-C-T c.160G>A p.G54R Missense 2/27 - 1
4-187630838-TGC-ACA c.142_144delinsTGT p.A48C Missense 2/27 - 1
4-187630845-T-C c.137A>G p.N46S Missense 2/27 - 1
4-187630853-C-CTCT c.128_129insAGA p.V43_Q44insE InFrameInsertion 2/27 - 1
4-187630861-C-T c.121G>A p.V41I Missense 2/27 - 1
4-187630862-G-A c.120C>T p.N40= Synonymous 2/27 - 1
4-187630863-T-C c.119A>G p.N40S Missense 2/27 - 1
4-187630884-CT-C c.98del p.Q33Rfs*38 Frameshift 2/27 - 1
4-187630905-C-T c.77G>A p.R26Q Missense 2/27 - 2
4-187630904-T-A c.78A>T p.R26= Synonymous 2/27 - 1
4-187630904-T-C c.78A>G p.R26= Synonymous 2/27 - 1
4-187630904-T-G c.78A>C p.R26= Synonymous 2/27 - 1
4-187630906-G-T c.76C>A p.R26= Synonymous 2/27 - 1
4-187630908-T-C c.74A>G p.Q25R Missense 2/27 - 1
4-187630915-C-CG c.66_67insC p.G23Rfs*6 Frameshift 2/27 - 1
4-187630926-C-G c.56G>C p.G19A Missense 2/27 - 1
4-187630927-C-T c.55G>A p.G19R Missense 2/27 - 1
4-187630934-T-A c.48A>T p.Q16H Missense 2/27 - 1
4-187630934-T-G c.48A>C p.Q16H Missense 2/27 - 1
4-187630936-G-A c.46C>T p.Q16* Nonsense 2/27 - 1
4-187630954-G-A c.28C>T p.L10F Missense 2/27 - 1
4-187630957-G-T c.25C>A p.L9M Missense 2/27 - 1
4-187630975-CT-C c.7del p.R3Dfs*68 Frameshift 2/27 - 1
4-187630978-C-A c.4G>T p.G2W Missense 2/27 - 1