PKD1 polycystin 1, transient receptor potential channel interacting

Annotation transcript: NM_001009944.3

1504 unique variant annotations were identified in 453 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
16-2139750-T-C c.12890A>G p.K4297R Missense 46/46 - 1
16-2139769-G-GT c.12870dup p.P4291Tfs*95 Frameshift 46/46 - 1
16-2139778-T-C c.12862A>G p.S4288G Missense 46/46 - 1
16-2139790-C-T c.12850G>A p.A4284T Missense 46/46 - 1
16-2139814-G-A c.12826C>T p.R4276W Missense 46/46 - 4
16-2139867-G-GA c.12772dup p.S4258Ffs*128 Frameshift 46/46 - 1
16-2139871-C-A c.12769G>T p.G4257* Nonsense 46/46 - 1
16-2139875-G-A c.12765C>T p.P4255= Synonymous 46/46 - 2
16-2139895-G-A c.12745C>T p.R4249C Missense 46/46 - 1
16-2139901-G-A c.12739C>T p.Q4247* Nonsense 46/46 - 2
16-2139904-G-A c.12736C>T p.L4246= Synonymous 46/46 - 1
16-2139916-G-A c.12724C>T p.Q4242* Nonsense 46/46 - 1
16-2139918-TG-GC c.12721_12722delinsGC p.Q4241A Missense 46/46 - 1
16-2139928-G-A c.12712C>T p.Q4238* Nonsense 46/46 - 3
16-2139929-G-T c.12711C>A p.Y4237* Nonsense 46/46 - 1
16-2139930-T-A c.12710A>T p.Y4237F Missense 46/46 - 1
16-2139933-A-T c.12707T>A p.V4236D Missense 46/46 - 1
16-2139949-G-A c.12691C>T p.Q4231* Nonsense 46/46 - 2
16-2139950-G-GT c.12689dup p.N4230Kfs*156 Frameshift 46/46 - 1
16-2139952-T-TA c.12687_12688insT p.N4230* Nonsense 46/46 - 1
16-2139953-G-GA c.12686dup p.N4230Qfs*156 Frameshift 46/46 - 1
16-2139954-AG-GC c.12685_12686delinsGC p.L4229A Missense 46/46 - 1
16-2139957-C-G c.12683G>C p.R4228P Missense 46/46 - 1
16-2139958-G-A c.12682C>T p.R4228* Nonsense 46/46 - 8
16-2139966-T-G c.12674A>C p.Q4225P Missense 46/46 - 1
16-2139965-CTGGG-C c.12671_12674del p.T4224Sfs*133 Frameshift 46/46 - 1
16-2139969-G-T c.12671C>A p.T4224N Missense 46/46 - 1
16-2139974-C-A c.12666G>T p.L4222= Synonymous 46/46 - 1
16-2139974-C-T c.12666G>A p.L4222= Synonymous 46/46 - 1
16-2139974-C-G c.12666G>C p.L4222= Synonymous 46/46 - 1
16-2139976-G-A c.12664C>T p.L4222= Synonymous 46/46 - 1
16-2139982-C-A c.12658G>T p.E4220* Nonsense 46/46 - 1
16-2139992-T-G c.12648A>C p.Q4216H Missense 46/46 - 1
16-2139994-G-A c.12646C>T p.Q4216* Nonsense 46/46 - 1
16-2140001-GG-TT c.12638_12639delinsAA p.S4213* Nonsense 46/46 - 1
16-2140004-GGGCTCAGGCTCACACCTTGTCCCCAGCC-G c.12608_12635del p.R4203Pfs*146 Frameshift 46/46 - 2
16-2140008-T-G c.12632A>C p.E4211A Missense 46/46 - 1
16-2140009-C-A c.12631G>T p.E4211* Nonsense 46/46 - 1
16-2140010-A-G c.12630T>C p.P4210= Synonymous 46/46 - 6
16-2140010-A-C c.12630T>G p.P4210= Synonymous 46/46 - 3
16-2140010-A-T c.12630T>A p.P4210= Synonymous 46/46 - 3
16-2140008-TCAGGCTCACACCTTGTCCCCAGCCGGCC-T c.12604_12631del p.G4202Sfs*147 Frameshift 46/46 - 2
16-2140070-G-A c.12570C>T p.S4190= Synonymous 46/46 - 1
16-2140071-G-A c.12569C>T p.S4190F Missense 46/46 - 1
16-2140086-G-C c.12554C>G p.S4185W Missense 46/46 - 1
16-2140111-G-GT c.12528_12529insA p.P4177Tfs*33 Frameshift 46/46 - 1
16-2140134-G-C c.12506C>G p.S4169C Missense 46/46 - 1
16-2140136-G-GC c.12503dup p.S4169Lfs*41 Frameshift 46/46 - 2
16-2140167-A-G c.12473T>C p.M4158T Missense 46/46 - 1
16-2140176-AA-GC c.12463_12464delinsGC p.F4155A Missense 46/46 - 1
16-2140177-A-C c.12463T>G p.F4155V Missense 46/46 - 2
16-2140179-CG-GC c.12460_12461delinsGC p.R4154A Missense 46/46 - 1
16-2140180-G-A c.12460C>T p.R4154C Missense 46/46 - 6
16-2140182-A-G c.12458T>C p.V4153A Missense 46/46 - 1
16-2140185-TT-GC c.12454_12455delinsGC p.K4152A Missense 46/46 - 1
16-2140186-T-C c.12454A>G p.K4152E Missense 46/46 - 1
16-2140188-TG-GC c.12451_12452delinsGC p.H4151A Missense 46/46 - 1
16-2140191-CG-GC c.12448_12449delinsGC p.R4150A Missense 46/46 - 1
16-2140192-G-A c.12448C>T p.R4150C Missense 46/46 - 3
16-2140286-C-T c.12444G>A p.E4148= Synonymous 45/46 - 1
16-2140286-C-G c.12444G>C p.E4148D Missense 45/46 - 1
16-2140286-C-A c.12444G>T p.E4148D Missense 45/46 - 1
16-2140288-C-A c.12442G>T p.E4148* Nonsense 45/46 - 1
16-2140288-C-T c.12442G>A p.E4148K Missense 45/46 - 1
16-2140289-CCTT-C c.12439_12441del p.K4147del InFrameDeletion 45/46 - 1
16-2140289-C-CT c.12440dup p.E4148Gfs*9 Frameshift 45/46 - 1
16-2140294-C-G c.12436G>C p.V4146L Missense 45/46 - 1
16-2140294-C-T c.12436G>A p.V4146I Missense 45/46 - 5
16-2140299-CT-TC c.12430_12431delinsGA p.S4144D Missense 45/46 - 2
16-2140310-C-T c.12420G>A p.W4140* Nonsense 45/46 - 2
16-2140311-C-T c.12419G>A p.W4140* Nonsense 45/46 - 1
16-2140314-A-G c.12416T>C p.L4139P Missense 45/46 - 1
16-2140317-C-T c.12413G>A p.R4138H Missense 45/46 - 2
16-2140320-A-G c.12410T>C p.L4137P Missense 45/46 - 2
16-2140321-G-A c.12409C>T p.L4137= Synonymous 45/46 - 5
16-2140322-C-G c.12408G>C p.R4136S Missense 45/46 - 1
16-2140323-C-G c.12407G>C p.R4136T Missense 45/46 - 1
16-2140324-T-C c.12406A>G p.R4136G Missense 45/46 - 2
16-2140326-C-A c.12404G>T p.R4135L Missense 45/46 - 1
16-2140327-CGCAGGAACA-C c.12395_12403del p.L4132_R4135delinsC MultiAAMissense 45/46 - 1
16-2140335-AA-GC c.12394_12395delinsGC p.L4132A Missense 45/46 - 1
16-2140338-TC-AG c.12391_12392delinsCT p.E4131L Missense 45/46 - 1
16-2140339-C-A c.12391G>T p.E4131* Nonsense 45/46 - 2
16-2140338-TC-T c.12391del p.E4131Sfs*67 Frameshift 45/46 - 1
16-2140338-TCCA-T c.12389_12391del p.V4130del InFrameDeletion 45/46 - 1
16-2140350-T-A c.12380A>T p.Y4127F Missense 45/46 - 1
16-2140355-C-T c.12375G>A p.Q4125= Synonymous 45/46 - 1
16-2140357-G-A c.12373C>T p.Q4125* Nonsense 45/46 - 1
16-2140365-C-T c.12365G>A p.W4122* Nonsense 45/46 - 1
16-2140364-C-T c.12366G>A p.W4122* Nonsense 45/46 - 1
16-2140398-TG-CC c.12331_12332delinsGG p.H4111G Missense 45/46 - 1
16-2140406-C-T c.12324G>A p.W4108* Nonsense 45/46 - 1
16-2140410-C-T c.12320G>A p.R4107H Missense 45/46 - 1
16-2140411-G-C c.12319C>G p.R4107G Missense 45/46 - 1
16-2140417-T-G c.12313A>C p.I4105L Missense 45/46 - 1
16-2140429-AG-A c.12301del p.L4101Wfs*97 Frameshift 45/46 - 1
16-2140431-CG-TA c.12298_12299delinsTA p.R4100* Nonsense 45/46 - 1
16-2140432-G-C c.12298C>G p.R4100G Missense 45/46 - 1
16-2140454-T-C c.12276A>G p.A4092= Synonymous 45/46 - 6
16-2140454-T-G c.12276A>C p.A4092= Synonymous 45/46 - 3
16-2140455-G-A c.12275C>T p.A4092V Missense 45/46 - 1
16-2140460-G-C c.12270C>G p.L4090= Synonymous 45/46 - 1
16-2140469-A-T c.12261T>A p.C4087* Nonsense 45/46 - 1
16-2140503-G-T c.12227C>A p.P4076H Missense 45/46 - 1
16-2140513-T-C c.12217A>G p.T4073A Missense 45/46 - 1
16-2140513-GTA-G c.12216_12217del p.T4073Pfs*83 Frameshift 45/46 - 1
16-2140526-C-A c.12204G>T p.G4068= Synonymous 45/46 - 1
16-2140526-C-T c.12204G>A p.G4068= Synonymous 45/46 - 1
16-2140526-C-G c.12204G>C p.G4068= Synonymous 45/46 - 1
16-2140529-A-G c.12201T>C p.P4067= Synonymous 45/46 - 1
16-2140550-C-A c.12180G>T p.Q4060H Missense 45/46 - 1
16-2140550-C-G c.12180G>C p.Q4060H Missense 45/46 - 1
16-2140554-G-A c.12176C>T p.A4059V Missense 45/46 - 6
16-2140554-G-C c.12176C>G p.A4059G Missense 45/46 - 1
16-2140569-G-A c.12161C>T p.S4054F Missense 45/46 - 3
16-2140573-CCA-C c.12155_12156del p.V4052Gfs*104 Frameshift 45/46 - 1
16-2140588-C-A c.12142G>T p.V4048L Missense 45/46 - 1
16-2140652-TC-T c.12138+22del - IntronicDeletion - 44/45 2
16-2140670-C-T c.12138+5G>A - IntronicSNV - 44/45 1
16-2140676-A-AG c.12136dup p.L4046Pfs*111 SpliceDonorInsertion 44/46 - 1
16-2140680-T-C c.12133A>G p.I4045V Missense 44/46 - 7
16-2140689-G-A c.12124C>T p.Q4042* Nonsense 44/46 - 4
16-2140693-G-C c.12120C>G p.Y4040* Nonsense 44/46 - 1
16-2140700-A-AC c.12112dup p.V4038Gfs*119 Frameshift 44/46 - 1
16-2140712-CA-C c.12101del p.V4034Gfs*5 Frameshift 44/46 - 1
16-2140738-C-G c.12075G>C p.E4025D Missense 44/46 - 1
16-2140738-C-A c.12075G>T p.E4025D Missense 44/46 - 1
16-2140739-T-C c.12074A>G p.E4025G Missense 44/46 - 2
16-2140752-G-A c.12061C>T p.R4021* Nonsense 44/46 - 4
16-2140753-G-T c.12060C>A p.C4020* Nonsense 44/46 - 1
16-2140757-A-C c.12056T>G p.L4019* Nonsense 44/46 - 1
16-2140760-G-A c.12053C>T p.T4018I Missense 44/46 - 2
16-2140774-G-A c.12039C>T p.S4013= Synonymous 44/46 - 1
16-2140778-C-T c.12035G>A p.W4012* Nonsense 44/46 - 1
16-2140782-G-A c.12031C>T p.Q4011* Nonsense 44/46 - 3
16-2140794-G-A c.12019C>T p.R4007C Missense 44/46 - 1
16-2140800-G-A c.12013C>T p.Q4005* Nonsense 44/46 - 1
16-2140803-G-A c.12010C>T p.Q4004* Nonsense 44/46 - 8
16-2140802-TGGGCA-T c.12006_12010del p.Q4004Afs*151 Frameshift 44/46 - 1
16-2140808-G-C c.12005C>G p.A4002G Missense 44/46 - 1
16-2140883-A-G c.12003+2T>C - IntronicSNV - 43/45 1
16-2140884-C-T c.12003+1G>A - IntronicSNV - 43/45 1
16-2140891-C-CAAAAGAAGA c.11996_11997insTCTTCTTTT p.F3996_L3998dup InFrameInsertion 43/46 - 1
16-2140916-CG-C c.11972del p.A3991Gfs*48 Frameshift 43/46 - 1
16-2140919-A-C c.11969T>G p.L3990R Missense 43/46 - 1
16-2140928-G-GTT c.11959_11960insAA p.A3987Efs*53 Frameshift 43/46 - 1
16-2140943-T-G c.11945A>C p.Q3982P Missense 43/46 - 1
16-2140944-G-A c.11944C>T p.Q3982* Nonsense 43/46 - 2
16-2140961-C-G c.11927G>C p.S3976T Missense 43/46 - 1
16-2140971-G-A c.11917C>T p.R3973C Missense 43/46 - 1
16-2140972-G-A c.11916C>T p.R3972= Synonymous 43/46 - 1
16-2140974-G-A c.11914C>T p.R3972C Missense 43/46 - 1
16-2140975-CGGGCGGCCGCGCACGAAACGGGTCCACTG-C c.11884_11912del p.Q3962Afs*5 Frameshift 43/46 - 1
16-2141000-C-T c.11888G>A p.W3963* Nonsense 43/46 - 1
16-2141003-CT-C c.11885del p.Q3962Rfs*22 Frameshift 43/46 - 1
16-2141004-G-A c.11884C>T p.Q3962* Nonsense 43/46 - 3
16-2141016-C-G c.11872G>C p.A3958P Missense 43/46 - 2
16-2141018-C-T c.11870G>A p.G3957D Missense 43/46 - 1
16-2141024-T-TG c.11863dup p.Q3955Pfs*6 Frameshift 43/46 - 1
16-2141028-C-G c.11860G>C p.A3954P Missense 43/46 - 1
16-2141032-G-C c.11856C>G p.R3952= Synonymous 43/46 - 1
16-2141043-GCCGTGGCCGCCGTCAGCGCCACCAGC-G c.11820_11845del p.L3941Tfs*11 Frameshift 43/46 - 1
16-2141054-G-A c.11834C>T p.T3945M Missense 43/46 - 2
16-2141071-C-T c.11817G>A p.W3939* Nonsense 43/46 - 1
16-2141081-C-T c.11807G>A p.W3936* Nonsense 43/46 - 1
16-2141080-C-T c.11808G>A p.W3936* Nonsense 43/46 - 1
16-2141122-C-T c.11766G>A p.W3922* Nonsense 43/46 - 1
16-2141133-CCTCGGCCA-C c.11747_11754del p.V3916Gfs*42 Frameshift 43/46 - 1
16-2141136-C-A c.11752G>T p.E3918* Nonsense 43/46 - 1
16-2141165-A-G c.11723T>C p.L3908P Missense 43/46 - 1
16-2141171-C-A c.11717G>T p.C3906F Missense 43/46 - 1
16-2141438-G-A c.11698C>T p.P3900S Missense 42/46 - 1
16-2141442-CGAGA-C c.11690_11693del p.L3897Rfs*47 Frameshift 42/46 - 1
16-2141447-G-A c.11689C>T p.L3897F Missense 42/46 - 2
16-2141454-G-A c.11682C>T p.S3894= Synonymous 42/46 - 1
16-2141453-CGCT-C c.11680_11682del p.S3894del InFrameDeletion 42/46 - 1
16-2141457-G-A c.11679C>T p.L3893= Synonymous 42/46 - 1
16-2141452-GCGCTGAGGCGGCGCAGCGCAAAGGGGCGGA-G c.11654_11683del p.V3885_S3894del InFrameDeletion 42/46 - 1
16-2141465-G-T c.11671C>A p.R3891S Missense 42/46 - 1
16-2141491-GGCGGCCAGGGCGCGGCCGGCCGC-G c.11623_11645del p.A3875Pfs*78 Frameshift 42/46 - 1
16-2141499-GGGCGCGGCCGGCCGCCGGGAA-G c.11617_11637del p.F3873_A3879del InFrameDeletion 42/46 - 1
16-2141500-G-A c.11636C>T p.A3879V Missense 42/46 - 1
16-2141501-C-T c.11635G>A p.A3879T Missense 42/46 - 1
16-2141522-C-A c.11614G>T p.E3872* Nonsense 42/46 - 5
16-2141522-C-T c.11614G>A p.E3872K Missense 42/46 - 1
16-2141532-C-G c.11604G>C p.T3868= Synonymous 42/46 - 1
16-2141545-T-G c.11591A>C p.H3864P Missense 42/46 - 1
16-2141577-C-A c.11559G>T p.E3853D Missense 42/46 - 1
16-2141581-AG-A c.11554del p.L3852Wfs*93 Frameshift 42/46 - 2
16-2141590-GC-AG c.11545_11546delinsCT p.A3849L Missense 42/46 - 1
16-2141591-GC-G c.11545del p.A3849Lfs*96 Frameshift 42/46 - 1
16-2141595-G-C c.11541C>G p.S3847R Missense 42/46 - 1
16-2141597-T-G c.11539A>C p.S3847R Missense 42/46 - 1
16-2141776-T-TCCC c.11537+3_11537+5dup - IntronicInsertion - 41/45 1
16-2141776-T-TC c.11537+5dup - IntronicInsertion - 41/45 1
16-2141780-A-C c.11537+2T>G - IntronicSNV - 41/45 1
16-2141780-A-T c.11537+2T>A - IntronicSNV - 41/45 1
16-2141794-C-T c.11525G>A p.W3842* Nonsense 41/46 - 1
16-2141793-C-T c.11526G>A p.W3842* Nonsense 41/46 - 1
16-2141795-A-G c.11524T>C p.W3842R Missense 41/46 - 2
16-2141795-A-T c.11524T>A p.W3842R Missense 41/46 - 1
16-2141796-G-A c.11523C>T p.N3841= Synonymous 41/46 - 1
16-2141801-G-T c.11518C>A p.H3840N Missense 41/46 - 1
16-2141807-G-A c.11512C>T p.Q3838* Nonsense 41/46 - 3
16-2141807-G-T c.11512C>A p.Q3838K Missense 41/46 - 1
16-2141828-G-GGCGGTC c.11490_11491insGACCGC p.S3830_R3831insDR InFrameInsertion 41/46 - 1
16-2141832-C-T c.11487G>A p.E3829= Synonymous 41/46 - 1
16-2141831-TCTC-T c.11485_11487del p.E3829del InFrameDeletion 41/46 - 1
16-2141848-C-A c.11471G>T p.G3824V Missense 41/46 - 1
16-2141862-G-T c.11457C>A p.Y3819* Nonsense 41/46 - 3
16-2141862-G-C c.11457C>G p.Y3819* Nonsense 41/46 - 2
16-2141863-T-C c.11456A>G p.Y3819C Missense 41/46 - 1
16-2141864-A-T c.11455T>A p.Y3819N Missense 41/46 - 1
16-2141866-C-T c.11453G>A p.G3818D Missense 41/46 - 2
16-2141866-C-G c.11453G>C p.G3818A Missense 41/46 - 1
16-2141867-C-G c.11452G>C p.G3818R Missense 41/46 - 2
16-2141884-G-GA c.11434_11435insT p.A3812Vfs*4 Frameshift 41/46 - 1
16-2141902-C-T c.11417G>A p.W3806* Nonsense 41/46 - 1
16-2142048-C-A c.11411G>T p.G3804V Missense 40/46 - 1
16-2142079-TC-T c.11379del p.T3794Rfs*32 Frameshift 40/46 - 2
16-2142083-C-G c.11376G>C p.S3792= Synonymous 40/46 - 1
16-2142086-G-GTC c.11372_11373insGA p.S3792Tfs*35 Frameshift 40/46 - 1
16-2142098-ACT-A c.11359_11360del p.P3788Sfs*27 Frameshift 40/46 - 2
16-2142104-C-T c.11355G>A p.W3785* Nonsense 40/46 - 1
16-2142105-C-T c.11354G>A p.W3785* Nonsense 40/46 - 1
16-2142105-C-G c.11354G>C p.W3785S Missense 40/46 - 1
16-2142108-C-A c.11351G>T p.G3784V Missense 40/46 - 1
16-2142112-C-T c.11347G>A p.V3783I Missense 40/46 - 1
16-2142113-G-A c.11346C>T p.D3782= Synonymous 40/46 - 3
16-2142113-G-T c.11346C>A p.D3782E Missense 40/46 - 1
16-2142113-G-GT c.11345dup p.D3782Efs*34 Frameshift 40/46 - 1
16-2142111-ACGTCGTAAT-A c.11339_11347del p.D3780_D3782del InFrameDeletion 40/46 - 1
16-2142111-ACGT-A c.11345_11347del p.D3782del InFrameDeletion 40/46 - 2
16-2142112-C-CGTCATA c.11346_11347insTATGAC p.Y3781_D3782dup InFrameInsertion 40/46 - 1
16-2142113-G-GTCT c.11345_11346insAGA p.Y3781_D3782insE InFrameInsertion 40/46 - 1
16-2142116-G-T c.11343C>A p.Y3781* Nonsense 40/46 - 4
16-2142116-G-C c.11343C>G p.Y3781* Nonsense 40/46 - 2
16-2142113-GTCGTAA-G c.11340_11345del p.Y3781_D3782del InFrameDeletion 40/46 - 1
16-2142126-G-T c.11333C>A p.T3778N Missense 40/46 - 2
16-2142145-C-A c.11314G>T p.A3772S Missense 40/46 - 1
16-2142144-GC-G c.11314del p.A3772Pfs*54 Frameshift 40/46 - 2
16-2142146-C-T c.11313G>A p.S3771= Synonymous 40/46 - 1
16-2142174-G-A c.11285C>T p.P3762L Missense 40/46 - 1
16-2142353-G-A c.11269+128C>T - IntronicSNV - 39/45 2
16-2142492-C-A c.11258G>T p.R3753L Missense 39/46 - 1
16-2142492-C-T c.11258G>A p.R3753Q Missense 39/46 - 2
16-2142492-C-G c.11258G>C p.R3753P Missense 39/46 - 1
16-2142493-G-A c.11257C>T p.R3753W Missense 39/46 - 6
16-2142493-G-T c.11257C>A p.R3753= Synonymous 39/46 - 1
16-2142493-G-C c.11257C>G p.R3753G Missense 39/46 - 1
16-2142498-T-C c.11252A>G p.Q3751R Missense 39/46 - 1
16-2142501-C-T c.11249G>A p.R3750Q Missense 39/46 - 2
16-2142502-G-C c.11248C>G p.R3750G Missense 39/46 - 3
16-2142504-A-G c.11246T>C p.L3749P Missense 39/46 - 1
16-2142509-TG-T c.11240del p.P3747Hfs*79 Frameshift 39/46 - 1
16-2142541-C-T c.11209G>A p.G3737R Missense 39/46 - 1
16-2142558-A-T c.11192T>A p.L3731Q Missense 39/46 - 1
16-2142564-T-G c.11186A>C p.H3729P Missense 39/46 - 1
16-2142574-A-G c.11176T>C p.W3726R Missense 39/46 - 1
16-2142577-G-A c.11173C>T p.P3725S Missense 39/46 - 1
16-2142578-C-T c.11172G>A p.W3724* Nonsense 39/46 - 1
16-2142942-C-T c.11156+13G>A - IntronicSNV - 38/45 1
16-2142955-C-A c.11156G>T p.R3719L Missense 38/46 - 1
16-2142955-C-T c.11156G>A p.R3719Q Missense 38/46 - 3
16-2142967-AG-A c.11143del p.L3715Wfs*111 Frameshift 38/46 - 1
16-2142976-CG-C c.11134del p.R3712Gfs*114 Frameshift 38/46 - 1
16-2142983-G-T c.11128C>A p.H3710N Missense 38/46 - 1
16-2143003-C-G c.11108G>C p.S3703T Missense 38/46 - 1
16-2143017-G-C c.11094C>G p.A3698= Synonymous 38/46 - 1
16-2143020-G-GT c.11090dup p.H3697Qfs*25 Frameshift 38/46 - 1
16-2143022-TGCCCA-T c.11085_11089del p.H3695Qfs*25 Frameshift 38/46 - 1
16-2143027-T-C c.11084A>G p.H3695R Missense 38/46 - 1
16-2143031-A-G c.11080T>C p.C3694R Missense 38/46 - 1
16-2143033-G-A c.11078C>T p.S3693L Missense 38/46 - 1
16-2143066-A-T c.11045T>A p.L3682Q Missense 38/46 - 1
16-2143546-C-T c.11015G>A p.R3672Q Missense 37/46 - 1
16-2143554-G-A c.11007C>T p.G3669= Synonymous 37/46 - 1
16-2143579-GGCT-G c.10980_10982del p.E3660_A3661delinsD MultiAAMissense 37/46 - 1
16-2143583-CT-C c.10977del p.E3660Kfs*24 Frameshift 37/46 - 1
16-2143588-T-C c.10973A>G p.K3658R Missense 37/46 - 1
16-2143594-CA-C c.10967del p.L3656Rfs*28 Frameshift 37/46 - 1
16-2143594-AG-A c.10966del p.L3656Wfs*28 Frameshift 37/46 - 1
16-2143601-G-C c.10960C>G p.L3654V Missense 37/46 - 1
16-2143607-AGCCGTGGG-A c.10946_10953del p.P3649Lfs*70 Frameshift 37/46 - 1
16-2143610-C-T c.10951G>A p.G3651S Missense 37/46 - 4
16-2143612-TG-T c.10948del p.H3650Tfs*34 Frameshift 37/46 - 1
16-2143627-CG-C c.10933del p.R3645Afs*39 Frameshift 37/46 - 1
16-2143635-A-T c.10926T>A p.R3642= Synonymous 37/46 - 1
16-2143635-A-G c.10926T>C p.R3642= Synonymous 37/46 - 1
16-2143635-A-C c.10926T>G p.R3642= Synonymous 37/46 - 1
16-2143637-G-A c.10924C>T p.R3642C Missense 37/46 - 1
16-2143638-T-TG c.10922dup p.R3642Tfs*80 Frameshift 37/46 - 1
16-2143640-C-T c.10921G>A p.A3641T Missense 37/46 - 1
16-2143662-GCT-G c.10897_10898del p.S3633Pfs*88 Frameshift 37/46 - 1
16-2143711-A-G c.10850T>C p.L3617P Missense 37/46 - 1
16-2143714-G-T c.10847C>A p.S3616* Nonsense 37/46 - 1
16-2143723-A-G c.10838T>C p.L3613P Missense 37/46 - 1
16-2143732-A-G c.10829T>C p.L3610P Missense 37/46 - 1
16-2143811-C-G c.10821+1G>C - IntronicSNV - 36/45 1
16-2143825-C-T c.10808G>A p.W3603* Nonsense 36/46 - 4
16-2143824-C-T c.10809G>A p.W3603* Nonsense 36/46 - 3
16-2143837-G-A c.10796C>T p.S3599L Missense 36/46 - 1
16-2143852-G-A c.10781C>T p.A3594V Missense 36/46 - 1
16-2143865-G-A c.10768C>T p.L3590= Synonymous 36/46 - 2
16-2143873-G-A c.10760C>T p.A3587V Missense 36/46 - 1
16-2143874-GC-G c.10759del p.A3587Rfs*20 Frameshift 36/46 - 1
16-2143875-AAC-A c.10756_10757del p.V3586Cfs*40 Frameshift 36/46 - 1
16-2143887-C-CG c.10745dup p.V3584Rfs*43 Frameshift 36/46 - 1
16-2143887-CG-C c.10745del p.P3582Rfs*3 Frameshift 36/46 - 2
16-2143900-G-A c.10733C>T p.A3578V Missense 36/46 - 1
16-2143909-C-T c.10724G>A p.W3575* Nonsense 36/46 - 1
16-2143912-C-CCCCT c.10720_10721insAGGG p.G3574Efs*54 Frameshift 36/46 - 1
16-2143915-GAGAC-G c.10714_10717del p.V3572Qfs*12 Frameshift 36/46 - 1
16-2143917-GACAGCC-G c.10710_10715del p.A3571_V3572del InFrameDeletion 36/46 - 1
16-2143955-C-T c.10678G>A p.G3560R Missense 36/46 - 3
16-2143957-T-G c.10676A>C p.H3559P Missense 36/46 - 1
16-2143982-G-A c.10651C>T p.P3551S Missense 36/46 - 1
16-2144014-C-G c.10619G>C p.G3540A Missense 36/46 - 1
16-2144074-CGGG-C c.10618+16_10618+18del - IntronicDeletion - 35/45 1
16-2144093-C-A c.10618G>T p.G3540* Nonsense 35/46 - 1
16-2144091-AC-A c.10618+1del - IntronicDeletion 35/46 - 1
16-2144123-G-A c.10588C>T p.Q3530* Nonsense 35/46 - 1
16-2144148-T-A c.10563A>T p.P3521= Synonymous 35/46 - 1
16-2144148-T-C c.10563A>G p.P3521= Synonymous 35/46 - 1
16-2144148-T-G c.10563A>C p.P3521= Synonymous 35/46 - 1
16-2144150-GCCCCAGCTCC-G c.10551_10560del p.E3518Hfs*6 Frameshift 35/46 - 1
16-2144159-C-A c.10552G>T p.E3518* Nonsense 35/46 - 1
16-2144171-G-A c.10540C>T p.Q3514* Nonsense 35/46 - 1
16-2144176-G-A c.10535C>T p.A3512V Missense 35/46 - 8
16-2144182-G-A c.10529C>T p.T3510M Missense 35/46 - 6
16-2144182-GTC-G c.10527_10528del p.E3509Dfs*117 Frameshift 35/46 - 3
16-2145129-G-T c.10500-918C>A - IntronicSNV - 34/45 1
16-2145373-G-A c.10500-1162C>T - IntronicSNV - 34/45 1
16-2145787-A-C c.10499+1362T>G - IntronicSNV - 34/45 1
16-2146288-C-T c.10499+861G>A - IntronicSNV - 34/45 1
16-2147186-G-A c.10462C>T p.Q3488* Nonsense 34/46 - 1
16-2147220-G-T c.10428C>A p.V3476= Synonymous 34/46 - 1
16-2147220-G-C c.10428C>G p.V3476= Synonymous 34/46 - 1
16-2147220-G-A c.10428C>T p.V3476= Synonymous 34/46 - 1
16-2147225-G-A c.10423C>T p.Q3475* Nonsense 34/46 - 1
16-2147227-TG-T c.10420del p.Q3474Sfs*53 Frameshift 34/46 - 1
16-2147241-A-AC c.10406_10407insG p.D3469Efs*2 SpliceAcceptorInsertion 34/46 - 1
16-2147242-T-C c.10406A>G p.D3469G Missense 34/46 - 1
16-2147320-C-A c.10405G>T p.D3469Y Missense 33/46 - 1
16-2147320-C-T c.10405G>A p.D3469N Missense 33/46 - 1
16-2147328-G-C c.10397C>G p.S3466* Nonsense 33/46 - 1
16-2147338-TGGCAGGCGAGTAGG-T c.10373_10386del p.P3458Qfs*8 Frameshift 33/46 - 1
16-2147346-G-A c.10379C>T p.S3460L Missense 33/46 - 1
16-2147356-T-TGAG c.10368_10369insCTC p.A3456_S3457insL InFrameInsertion 33/46 - 1
16-2147357-G-A c.10368C>T p.A3456= Synonymous 33/46 - 1
16-2147365-GA-G c.10360del p.S3454Pfs*19 Frameshift 33/46 - 1
16-2147374-C-T c.10351G>A p.D3451N Missense 33/46 - 1
16-2147381-TG-T c.10343del p.P3448Qfs*25 Frameshift 33/46 - 1
16-2147399-C-T c.10326G>A p.A3442= Synonymous 33/46 - 1
16-2147400-G-A c.10325C>T p.A3442V Missense 33/46 - 1
16-2147404-G-A c.10321C>T p.Q3441* Nonsense 33/46 - 2
16-2147405-GC-G c.10319del p.G3440Afs*33 Frameshift 33/46 - 1
16-2147410-G-A c.10315C>T p.R3439W Missense 33/46 - 1
16-2147413-C-T c.10312G>A p.A3438T Missense 33/46 - 1
16-2147416-G-T c.10309C>A p.L3437M Missense 33/46 - 1
16-2147482-C-T c.10243G>A p.E3415K Missense 33/46 - 1
16-2147487-G-A c.10238C>T p.S3413F Missense 33/46 - 1
16-2147493-C-T c.10232G>A p.W3411* Nonsense 33/46 - 2
16-2147500-C-G c.10225G>C p.V3409L Missense 33/46 - 1
16-2147727-A-G c.10220+2T>C - IntronicSNV - 32/45 1
16-2147727-A-C c.10220+2T>G - IntronicSNV - 32/45 1
16-2147733-T-TA c.10215dup p.K3406* Nonsense 32/46 - 1
16-2147735-G-T c.10214C>A p.S3405Y Missense 32/46 - 1
16-2147758-C-G c.10191G>C p.K3397N Missense 32/46 - 1
16-2147758-C-A c.10191G>T p.K3397N Missense 32/46 - 1
16-2147766-G-A c.10183C>T p.Q3395* Nonsense 32/46 - 1
16-2147780-T-TG c.10168dup p.Q3390Pfs*10 SpliceAcceptorInsertion - - 1
16-2147842-GC-G c.10167+26del - IntronicDeletion - 31/45 1
16-2147873-G-C c.10163C>G p.A3388G Missense 31/46 - 1
16-2147894-AG-A c.10141del p.L3381Sfs*16 Frameshift 31/46 - 1
16-2147929-G-A c.10107C>T p.S3369= Synonymous 31/46 - 1
16-2147934-C-T c.10102G>A p.D3368N Missense 31/46 - 2
16-2147935-G-C c.10101C>G p.I3367M Missense 31/46 - 1
16-2147949-G-A c.10087C>T p.Q3363* Nonsense 31/46 - 1
16-2147952-TG-T c.10084del p.Q3362Sfs*35 Frameshift 31/46 - 1
16-2147952-G-A c.10084C>T p.Q3362* Nonsense 31/46 - 1
16-2147955-C-T c.10081G>A p.G3361R Missense 31/46 - 1
16-2147962-TGTG-T c.10071_10073del p.T3358del InFrameDeletion 31/46 - 1
16-2147973-G-T c.10063C>A p.P3355T Missense 31/46 - 3
16-2149591-T-C c.10050+54A>G - IntronicSNV - 30/45 1
16-2149652-C-T c.10043G>A p.R3348Q Missense 30/46 - 3
16-2149695-TAGACAAC-T c.9994_10000del p.V3332Ifs*63 Frameshift 30/46 - 1
16-2149698-CA-C c.9996del p.V3333Sfs*64 Frameshift 30/46 - 1
16-2149728-CTG-C c.9965_9966del p.T3322Sfs*67 Frameshift 30/46 - 1
16-2149748-C-T c.9947G>A p.S3316N Missense 30/46 - 1
16-2149861-C-A c.9923+1G>T - IntronicSNV - 29/45 1
16-2149869-CAG-C c.9914_9915del p.S3305Cfs*84 Frameshift 29/46 - 1
16-2149876-G-A c.9909C>T p.G3303= Synonymous 29/46 - 1
16-2149876-G-C c.9909C>G p.G3303= Synonymous 29/46 - 1
16-2149876-G-T c.9909C>A p.G3303= Synonymous 29/46 - 1
16-2149881-C-G c.9904G>C p.V3302L Missense 29/46 - 1
16-2149891-C-T c.9894G>A p.W3298* Nonsense 29/46 - 1
16-2149896-C-T c.9889G>A p.V3297M Missense 29/46 - 1
16-2149901-T-C c.9884A>G p.N3295S Missense 29/46 - 4
16-2149918-G-A c.9867C>T p.C3289= Synonymous 29/46 - 1
16-2149923-TGAG-T c.9859_9861del p.L3287del InFrameDeletion 29/46 - 3
16-2149944-C-T c.9841G>A p.A3281T Missense 29/46 - 1
16-2149956-G-A c.9829C>T p.R3277C Missense 29/46 - 54
16-2149965-G-A c.9820C>T p.R3274C Missense 29/46 - 1
16-2149970-C-T c.9815G>A p.R3272H Missense 29/46 - 1
16-2149978-CCG-ACA c.9805_9807delinsTGT p.R3269C Missense 29/46 - 3
16-2149979-C-T c.9806G>A p.R3269Q Missense 29/46 - 1
16-2149998-A-G c.9787T>C p.W3263R Missense 29/46 - 1
16-2150008-TGTCAAAG-T c.9771_9777del p.F3257Lfs*57 Frameshift 29/46 - 1
16-2150029-C-G c.9756G>C p.E3252D Missense 29/46 - 2
16-2150025-GCAGCT-G c.9755_9759del p.E3252Afs*6 Frameshift 29/46 - 1
16-2150039-A-G c.9746T>C p.L3249P Missense 29/46 - 2
16-2150046-G-A c.9739C>T p.R3247C Missense 29/46 - 2
16-2150048-C-T c.9737G>A p.R3246Q Missense 29/46 - 1
16-2150054-C-T c.9731G>A p.R3244H Missense 29/46 - 1
16-2150067-C-T c.9718G>A p.A3240T Missense 29/46 - 2
16-2150071-CG-C c.9714del p.S3238Rfs*78 Frameshift 29/46 - 1
16-2150137-A-C c.9712+30T>G - IntronicSNV - 28/45 1
16-2150166-C-A c.9712+1G>T - IntronicSNV - 28/45 1
16-2150166-C-CT c.9712dup p.S3238Kfs*15 SpliceDonorInsertion 28/46 - 1
16-2150167-T-TG c.9711_9712insC p.S3238Qfs*15 SpliceDonorInsertion 28/46 - 1
16-2150167-T-TA c.9711_9712insT p.S3238* SpliceDonorInsertion 28/46 - 1
16-2150167-T-TC c.9711dup p.S3238Efs*15 SpliceDonorInsertion 28/46 - 1
16-2150181-T-A c.9698A>T p.E3233V Missense 28/46 - 1
16-2150185-T-C c.9694A>G p.K3232E Missense 28/46 - 1
16-2150185-T-A c.9694A>T p.K3232* Nonsense 28/46 - 1
16-2150211-GTC-G c.9666_9667del p.E3222Dfs*30 Frameshift 28/46 - 1
16-2150239-G-A c.9640C>T p.L3214= Synonymous 28/46 - 2
16-2150242-A-C c.9637T>G p.F3213V Missense 28/46 - 1
16-2150244-A-G c.9635T>C p.F3212S Missense 28/46 - 1
16-2150245-A-C c.9634T>G p.F3212V Missense 28/46 - 1
16-2150263-G-A c.9616C>T p.Q3206* Nonsense 28/46 - 1
16-2150291-G-A c.9588C>T p.F3196= Synonymous 28/46 - 1
16-2150295-C-T c.9584G>A p.W3195* Nonsense 28/46 - 1
16-2150296-A-T c.9583T>A p.W3195R Missense 28/46 - 1
16-2150296-A-G c.9583T>C p.W3195R Missense 28/46 - 1
16-2150301-G-A c.9578C>T p.P3193L Missense 28/46 - 1
16-2150310-C-A c.9569G>T p.G3190V Missense 28/46 - 1
16-2150397-C-T c.9568G>A p.G3190R Missense 27/46 - 1
16-2150401-G-C c.9564C>G p.N3188K Missense 27/46 - 1
16-2150402-T-C c.9563A>G p.N3188S Missense 27/46 - 3
16-2150402-T-A c.9563A>T p.N3188I Missense 27/46 - 1
16-2150403-T-C c.9562A>G p.N3188D Missense 27/46 - 2
16-2150404-G-T c.9561C>A p.D3187E Missense 27/46 - 1
16-2150403-TGTC-T c.9559_9561del p.D3187del InFrameDeletion 27/46 - 1
16-2150417-C-T c.9548G>A p.R3183Q Missense 27/46 - 6
16-2150426-C-T c.9539G>A p.W3180* Nonsense 27/46 - 1
16-2150425-C-T c.9540G>A p.W3180* Nonsense 27/46 - 1
16-2150432-C-A c.9533G>T p.S3178I Missense 27/46 - 1
16-2150446-C-A c.9519G>T p.P3173= Synonymous 27/46 - 1
16-2150448-G-A c.9517C>T p.P3173S Missense 27/46 - 1
16-2150459-C-T c.9506G>A p.R3169Q Missense 27/46 - 1
16-2150463-A-G c.9502T>C p.F3168L Missense 27/46 - 1
16-2150461-G-T c.9504C>A p.F3168L Missense 27/46 - 1
16-2150461-G-C c.9504C>G p.F3168L Missense 27/46 - 3
16-2150466-T-A c.9499A>T p.I3167F Missense 27/46 - 5
16-2150474-CT-GC c.9490_9491delinsGC p.S3164A Missense 27/46 - 1
16-2150474-CT-TC c.9490_9491delinsGA p.S3164D Missense 27/46 - 1
16-2150480-C-A c.9485G>T p.R3162L Missense 27/46 - 1
16-2150481-G-A c.9484C>T p.R3162C Missense 27/46 - 3
16-2150489-GCT-G c.9474_9475del p.R3158Sfs*20 Frameshift 27/46 - 1
16-2150496-C-T c.9469G>A p.D3157N Missense 27/46 - 1
16-2150509-C-CG c.9455_9456insC p.H3153Afs*26 Frameshift 27/46 - 1
16-2150511-G-A c.9454C>T p.R3152W Missense 27/46 - 1
16-2150534-C-G c.9431G>C p.G3144A Missense 27/46 - 1
16-2150553-C-T c.9412G>A p.V3138M Missense 27/46 - 2
16-2150558-G-A c.9407C>T p.A3136V Missense 27/46 - 1
16-2150561-G-A c.9404C>T p.T3135M Missense 27/46 - 1
16-2151893-G-C c.9397+169C>G - IntronicSNV - 26/45 1
16-2152064-G-A c.9395C>T p.S3132L Missense 26/46 - 1
16-2152071-G-A c.9388C>T p.R3130W Missense 26/46 - 1
16-2152065-AGCCCCG-A c.9388_9393del p.R3130_G3131del InFrameDeletion 26/46 - 1
16-2152079-C-G c.9380G>C p.G3127A Missense 26/46 - 1
16-2152080-C-T c.9379G>A p.G3127S Missense 26/46 - 1
16-2152082-G-A c.9377C>T p.T3126I Missense 26/46 - 1
16-2152091-AG-GC c.9367_9368delinsGC p.L3123A Missense 26/46 - 1
16-2152098-C-T c.9361G>A p.E3121K Missense 26/46 - 3
16-2152096-CTCG-C c.9360_9362del p.Y3120_E3121delins* MultiAAMissense 26/46 - 1
16-2152099-G-GT c.9359dup p.Y3120* Nonsense 26/46 - 1
16-2152101-A-T c.9358T>A p.Y3120N Missense 26/46 - 1
16-2152112-C-A c.9347G>T p.G3116V Missense 26/46 - 1
16-2152119-G-A c.9340C>T p.Q3114* Nonsense 26/46 - 2
16-2152124-C-A c.9335G>T p.C3112F Missense 26/46 - 1
16-2152129-A-G c.9330T>C p.P3110= Synonymous 26/46 - 3
16-2152131-G-A c.9328C>T p.P3110S Missense 26/46 - 1
16-2152135-G-T c.9324C>A p.A3108= Synonymous 26/46 - 1
16-2152134-TG-T c.9324del p.I3109Sfs*207 Frameshift 26/46 - 1
16-2152146-G-A c.9313C>T p.R3105W Missense 26/46 - 2
16-2152175-A-G c.9284T>C p.L3095P Missense 26/46 - 1
16-2152187-A-C c.9272T>G p.M3091R Missense 26/46 - 1
16-2152189-G-A c.9270C>T p.V3090= Synonymous 26/46 - 1
16-2152198-G-T c.9261C>A p.T3087= Synonymous 26/46 - 1
16-2152198-G-C c.9261C>G p.T3087= Synonymous 26/46 - 1
16-2152198-G-A c.9261C>T p.T3087= Synonymous 26/46 - 1
16-2152199-G-C c.9260C>G p.T3087S Missense 26/46 - 1
16-2152218-CAT-C c.9240_9241del p.A3082Cfs*96 Frameshift 26/46 - 3
16-2152218-A-G c.9241T>C p.C3081R Missense 26/46 - 2
16-2152237-G-C c.9222C>G p.N3074K Missense 26/46 - 1
16-2152374-TCACTCACAGGAAACACAAAGCGGA-T c.9185_9201+7del - SpliceDonorDeletion 25/46 25/45 1
16-2152381-C-T c.9201+1G>A - IntronicSNV - 25/45 1
16-2152387-A-G c.9196T>C p.F3066L Missense 25/46 - 5
16-2152388-C-G c.9195G>C p.V3065= Synonymous 25/46 - 4
16-2152393-A-G c.9190T>C p.F3064L Missense 25/46 - 2
16-2152391-A-T c.9192T>A p.F3064L Missense 25/46 - 2
16-2152391-A-C c.9192T>G p.F3064L Missense 25/46 - 2
16-2152396-G-A c.9187C>T p.R3063C Missense 25/46 - 1
16-2152397-G-A c.9186C>T p.V3062= Synonymous 25/46 - 1
16-2152399-C-T c.9184G>A p.V3062I Missense 25/46 - 1
16-2152414-C-T c.9169G>A p.V3057M Missense 25/46 - 2
16-2152426-C-T c.9157G>A p.A3053T Missense 25/46 - 2
16-2152433-G-GC c.9149_9150insG p.F3051Lfs*18 Frameshift 25/46 - 1
16-2152434-G-GC c.9148dup p.A3050Gfs*19 Frameshift 25/46 - 1
16-2152436-GG-CC c.9146_9147inv p.T3049R Missense 25/46 - 2
16-2152436-GGT-TTA c.9145_9147delinsTAA p.T3049* Nonsense 25/46 - 1
16-2152437-GT-AC c.9145_9146inv p.T3049V Missense 25/46 - 2
16-2152437-G-C c.9146C>G p.T3049S Missense 25/46 - 1
16-2152438-T-A c.9145A>T p.T3049S Missense 25/46 - 1
16-2152437-GT-CC c.9145_9146delinsGG p.T3049G Missense 25/46 - 1
16-2152437-GT-CA c.9145_9146delinsTG p.T3049C Missense 25/46 - 1
16-2152447-G-A c.9136C>T p.R3046C Missense 25/46 - 3
16-2152456-A-G c.9127T>C p.C3043R Missense 25/46 - 1
16-2152479-CTCCTCCA-C c.9098_9104del p.L3033Rfs*39 Frameshift 25/46 - 1
16-2152486-GGGGCAGCA-G c.9089_9096del p.L3030Pfs*36 Frameshift 25/46 - 1
16-2152516-T-C c.9067A>G p.M3023V Missense 25/46 - 3
16-2152525-C-A c.9058G>T p.E3020* Nonsense 25/46 - 2
16-2152529-GA-G c.9053del p.F3018Sfs*56 Frameshift 25/46 - 1
16-2152536-T-C c.9047A>G p.Q3016R Missense 25/46 - 7
16-2152540-A-T c.9043T>A p.C3015S Missense 25/46 - 1
16-2152544-GGGA-G c.9037_9039del p.S3013del InFrameDeletion 25/46 - 1
16-2152543-GGGACGT-G c.9034_9039del p.T3012_S3013del InFrameDeletion 25/46 - 1
16-2152561-C-T c.9022G>A p.V3008M Missense 25/46 - 2
16-2152570-G-C c.9013C>G p.Q3005E Missense 25/46 - 1
16-2152574-C-T c.9009G>A p.A3003= Synonymous 25/46 - 1
16-2152585-G-A c.8998C>T p.R3000C Missense 25/46 - 1
16-2152584-CG-C c.8998del p.R3000Afs*74 Frameshift 25/46 - 1
16-2152586-G-GC c.8996_8997insG p.F2999Lfs*70 Frameshift 25/46 - 1
16-2152593-C-A c.8990G>T p.S2997I Missense 25/46 - 1
16-2152600-G-A c.8983C>T p.L2995F Missense 25/46 - 1
16-2152605-A-G c.8978T>C p.L2993P Missense 25/46 - 3
16-2152611-GTAA-G c.8970_8972del p.Y2991del InFrameDeletion 25/46 - 1
16-2152612-A-C c.8971T>G p.Y2991D Missense 25/46 - 1
16-2152619-C-T c.8964G>A p.A2988= Synonymous 25/46 - 2
16-2152651-T-C c.8949-17A>G - IntronicSNV - 24/45 2
16-2152798-T-C c.8948+17A>G - IntronicSNV - 24/45 1
16-2152825-TGAA-T c.8935_8937del p.F2979del InFrameDeletion 24/46 - 3
16-2152847-G-A c.8916C>T p.D2972= Synonymous 24/46 - 2
16-2152849-C-T c.8914G>A p.D2972N Missense 24/46 - 1
16-2152850-A-G c.8913T>C p.A2971= Synonymous 24/46 - 1
16-2152858-G-A c.8905C>T p.Q2969* Nonsense 24/46 - 1
16-2152865-C-G c.8898G>C p.E2966D Missense 24/46 - 1
16-2152903-C-A c.8860G>T p.E2954* Nonsense 24/46 - 1
16-2152903-C-CA c.8859dup p.E2954* Nonsense 24/46 - 1
16-2152905-T-C c.8858A>G p.N2953S Missense 24/46 - 1
16-2152920-G-T c.8843C>A p.S2948* Nonsense 24/46 - 1
16-2152928-G-C c.8835C>G p.Y2945* Nonsense 24/46 - 1
16-2152933-C-A c.8830G>T p.V2944F Missense 24/46 - 1
16-2152948-C-A c.8815G>T p.E2939* Nonsense 24/46 - 1
16-2152959-G-A c.8804C>T p.S2935F Missense 24/46 - 1
16-2152966-TAG-T c.8796_8797del p.H2932Qfs*4 Frameshift 24/46 - 1
16-2153271-C-CGCAGCGTATAGTTGAGCTGCAGAT c.8786_8787insATCTGCAGCTCAACTATACGCTGC p.L2929_D2930insSAAQLYAA InFrameInsertion 23/46 - 1
16-2153281-TAGTTG-T c.8772_8776del p.N2925Yfs*10 Frameshift 23/46 - 1
16-2153296-T-G c.8762A>C p.H2921P Missense 23/46 - 1
16-2153308-G-A c.8750C>T p.A2917V Missense 23/46 - 1
16-2153312-G-A c.8746C>T p.P2916S Missense 23/46 - 1
16-2153314-T-C c.8744A>G p.N2915S Missense 23/46 - 2
16-2153342-C-T c.8716G>A p.G2906S Missense 23/46 - 2
16-2153345-C-T c.8713G>A p.V2905I Missense 23/46 - 1
16-2153360-G-A c.8698C>T p.Q2900* Nonsense 23/46 - 1
16-2153367-CAA-C c.8690_8691del p.V2897Gfs*39 Frameshift 23/46 - 1
16-2153378-C-T c.8680G>A p.A2894T Missense 23/46 - 1
16-2153368-ACGGAGTTGG-A c.8681_8689del p.A2894_S2896del InFrameDeletion 23/46 - 2
16-2153414-A-T c.8644T>A p.W2882R Missense 23/46 - 1
16-2153427-G-A c.8631C>T p.P2877= Synonymous 23/46 - 1
16-2153443-A-C c.8615T>G p.I2872S Missense 23/46 - 1
16-2153444-AT-A c.8614del p.I2872Sfs*3 Frameshift 23/46 - 3
16-2153461-A-G c.8597T>C p.L2866P Missense 23/46 - 1
16-2153464-C-T c.8594G>A p.R2865Q Missense 23/46 - 1
16-2153465-G-A c.8593C>T p.R2865W Missense 23/46 - 1
16-2153468-C-A c.8590G>T p.E2864* Nonsense 23/46 - 1
16-2153480-G-A c.8578C>T p.Q2860* Nonsense 23/46 - 1
16-2153486-C-T c.8572G>A p.G2858S Missense 23/46 - 2
16-2153500-A-G c.8558T>C p.F2853S Missense 23/46 - 3
16-2153510-A-G c.8548T>C p.S2850P Missense 23/46 - 2
16-2153515-A-G c.8543T>C p.V2848A Missense 23/46 - 1
16-2153522-T-G c.8536A>C p.T2846P Missense 23/46 - 1
16-2153528-C-T c.8530G>A p.V2844I Missense 23/46 - 1
16-2153561-G-A c.8497C>T p.P2833S Missense 23/46 - 1
16-2153563-T-C c.8495A>G p.N2832S Missense 23/46 - 1
16-2153587-T-G c.8471A>C p.Q2824P Missense 23/46 - 1
16-2153594-C-T c.8464G>A p.V2822M Missense 23/46 - 3
16-2153611-A-G c.8447T>C p.L2816P Missense 23/46 - 3
16-2153611-A-T c.8447T>A p.L2816Q Missense 23/46 - 1
16-2153614-G-A c.8444C>T p.A2815V Missense 23/46 - 1
16-2153618-C-T c.8440G>A p.G2814R Missense 23/46 - 3
16-2153618-C-G c.8440G>C p.G2814R Missense 23/46 - 1
16-2153619-G-A c.8439C>T p.S2813= Synonymous 23/46 - 1
16-2153629-CTCGG-C c.8426_8429del p.P2809Rfs*65 Frameshift 23/46 - 1
16-2153630-C-A c.8428G>T p.E2810* Nonsense 23/46 - 2
16-2153630-TCGG-T c.8426_8428del p.P2809_E2810delinsQ MultiAAMissense 23/46 - 1
16-2153632-G-A c.8426C>T p.P2809L Missense 23/46 - 1
16-2153636-T-TG c.8421dup p.I2808Hfs*14 Frameshift 23/46 - 1
16-2153653-G-A c.8405C>T p.P2802L Missense 23/46 - 1
16-2153670-A-T c.8388T>A p.Y2796* Nonsense 23/46 - 1
16-2153681-G-C c.8377C>G p.L2793V Missense 23/46 - 1
16-2153684-CTCCGCGG-C c.8368_8374del p.P2790Afs*83 Frameshift 23/46 - 1
16-2153686-C-T c.8372G>A p.R2791Q Missense 23/46 - 1
16-2153689-G-A c.8369C>T p.P2790L Missense 23/46 - 1
16-2153694-C-T c.8364G>A p.S2788= Synonymous 23/46 - 1
16-2153706-CCT-C c.8351_8352del p.Q2784Rfs*37 Frameshift 23/46 - 1
16-2153708-G-A c.8350C>T p.Q2784* Nonsense 23/46 - 1
16-2153711-C-G c.8347G>C p.A2783P Missense 23/46 - 1
16-2153714-C-T c.8344G>A p.V2782M Missense 23/46 - 1
16-2153720-C-A c.8338G>T p.E2780* Nonsense 23/46 - 1
16-2153723-C-T c.8335G>A p.E2779K Missense 23/46 - 1
16-2153747-C-T c.8311G>A p.E2771K Missense 23/46 - 23
16-2153749-T-A c.8309A>T p.N2770I Missense 23/46 - 1
16-2153752-AGCAC-A c.8302_8305del p.V2768Sfs*6 Frameshift 23/46 - 1
16-2153756-C-T c.8302G>A p.V2768M Missense 23/46 - 5
16-2153759-G-A c.8299C>T p.R2767C Missense 23/46 - 3
16-2153759-GGGA-G c.8296_8298del p.S2766del InFrameDeletion 23/46 - 1
16-2153764-C-T c.8294G>A p.R2765H Missense 23/46 - 2
16-2153765-G-A c.8293C>T p.R2765C Missense 23/46 - 13
16-2153765-G-C c.8293C>G p.R2765G Missense 23/46 - 1
16-2153773-GA-G c.8285del p.I2762Tfs*13 Frameshift 23/46 - 1
16-2153788-G-C c.8270C>G p.S2757C Missense 23/46 - 1
16-2153799-G-C c.8259C>G p.Y2753* Nonsense 23/46 - 2
16-2153803-G-T c.8255C>A p.A2752D Missense 23/46 - 2
16-2153807-G-A c.8251C>T p.Q2751* Nonsense 23/46 - 1
16-2153834-C-T c.8224G>A p.E2742K Missense 23/46 - 1
16-2154458-G-A c.8161+41C>T - IntronicSNV - 22/45 1
16-2154460-A-G c.8161+39T>C - IntronicSNV - 22/45 1
16-2154461-C-T c.8161+38G>A - IntronicSNV - 22/45 2
16-2154461-C-A c.8161+38G>T - IntronicSNV - 22/45 1
16-2154461-C-G c.8161+38G>C - IntronicSNV - 22/45 1
16-2154468-G-A c.8161+31C>T - IntronicSNV - 22/45 1
16-2154469-G-C c.8161+30C>G - IntronicSNV - 22/45 1
16-2154470-GC-G c.8161+29del - IntronicDeletion - 22/45 1
16-2154474-T-C c.8161+25A>G - IntronicSNV - 22/45 1
16-2154475-G-C c.8161+24C>G - IntronicSNV - 22/45 1
16-2154476-G-A c.8161+23C>T - IntronicSNV - 22/45 1
16-2154478-A-G c.8161+21T>C - IntronicSNV - 22/45 4
16-2154478-A-C c.8161+21T>G - IntronicSNV - 22/45 2
16-2154491-C-T c.8161+8G>A - IntronicSNV - 22/45 1
16-2154498-C-G c.8161+1G>C - IntronicSNV - 22/45 1
16-2154500-CTGT-C c.8158_8160del p.T2720del InFrameDeletion 22/46 - 1
16-2154502-T-G c.8158A>C p.T2720P Missense 22/46 - 1
16-2154518-G-A c.8142C>T p.D2714= Synonymous 22/46 - 1
16-2154523-C-T c.8137G>A p.G2713R Missense 22/46 - 1
16-2154523-C-G c.8137G>C p.G2713R Missense 22/46 - 1
16-2154531-G-T c.8129C>A p.T2710N Missense 22/46 - 2
16-2154532-TGGGC-T c.8124_8127del p.T2710Pfs*45 Frameshift 22/46 - 1
16-2154537-G-A c.8123C>T p.T2708M Missense 22/46 - 4
16-2154549-G-A c.8111C>T p.A2704V Missense 22/46 - 2
16-2154565-G-A c.8095C>T p.Q2699* Nonsense 22/46 - 3
16-2154573-A-C c.8087T>G p.L2696R Missense 22/46 - 4
16-2154604-G-A c.8056C>T p.Q2686* Nonsense 22/46 - 1
16-2154619-G-A c.8041C>T p.R2681C Missense 22/46 - 2
16-2154633-C-G c.8027G>C p.R2676T Missense 22/46 - 1
16-2154640-G-A c.8020C>T p.P2674S Missense 22/46 - 2
16-2155246-G-A c.8016+77C>T - IntronicSNV - 21/45 1
16-2155252-C-T c.8016+71G>A - IntronicSNV - 21/45 1
16-2155297-A-G c.8016+26T>C - IntronicSNV - 21/45 2
16-2155321-AC-A c.8016+1del - IntronicDeletion 21/46 - 1
16-2155353-C-CT c.7985dup p.Q2663Afs*159 Frameshift 21/46 - 1
16-2155355-G-A c.7984C>T p.Q2662* Nonsense 21/46 - 2
16-2155361-C-A c.7978G>T p.D2660Y Missense 21/46 - 2
16-2155361-C-T c.7978G>A p.D2660N Missense 21/46 - 1
16-2155364-CCA-C c.7973_7974del p.V2658Gfs*2 Frameshift 21/46 - 1
16-2155379-T-C c.7960A>G p.R2654G Missense 21/46 - 1
16-2155386-CACCAG-C c.7948_7952del p.L2650Vfs*9 Frameshift 21/46 - 1
16-2155389-CAG-C c.7948_7949del p.L2650Gfs*10 Frameshift 21/46 - 2
16-2155399-G-A c.7940C>T p.T2647M Missense 21/46 - 1
16-2155412-G-A c.7927C>T p.R2643C Missense 21/46 - 2
16-2155412-CG-C c.7927del p.R2643Afs*11 Frameshift 21/46 - 1
16-2155424-G-A c.7915C>T p.R2639* Nonsense 21/46 - 3
16-2155423-C-CG c.7915dup p.R2639Pfs*22 Frameshift 21/46 - 1
16-2155426-T-C c.7913A>G p.H2638R Missense 21/46 - 4
16-2155430-G-A c.7909C>T p.Q2637* Nonsense 21/46 - 2
16-2155450-G-A c.7889C>T p.A2630V Missense 21/46 - 1
16-2155472-C-A c.7867G>T p.E2623* Nonsense 21/46 - 2
16-2155473-G-T c.7866C>A p.Y2622* Nonsense 21/46 - 1
16-2155473-G-C c.7866C>G p.Y2622* Nonsense 21/46 - 3
16-2155473-G-A c.7866C>T p.Y2622= Synonymous 21/46 - 1
16-2155819-A-C c.7863+47T>G - IntronicSNV - 20/45 3
16-2155865-C-A c.7863+1G>T - IntronicSNV - 20/45 1
16-2155866-CCTCGT-C c.7859_7863del p.N2620Ifs*39 SpliceDonorDeletion 20/46 - 1
16-2155873-A-G c.7856T>C p.L2619P Missense 20/46 - 1
16-2155893-C-T c.7836G>A p.S2612= Synonymous 20/46 - 1
16-2155894-G-C c.7835C>G p.S2612W Missense 20/46 - 1
16-2155925-G-A c.7804C>T p.Q2602* Nonsense 20/46 - 1
16-2155933-A-C c.7796T>G p.L2599R Missense 20/46 - 1
16-2155964-GCAGC-G c.7761_7764del p.W2587Cfs*32 Frameshift 20/46 - 1
16-2155969-C-T c.7760G>A p.W2587* Nonsense 20/46 - 1
16-2155968-C-T c.7761G>A p.W2587* Nonsense 20/46 - 1
16-2155991-TGCC-T c.7735_7737del p.G2579del InFrameDeletion 20/46 - 1
16-2156021-A-G c.7708T>C p.L2570= Synonymous 20/46 - 3
16-2156068-G-T c.7703+24C>A - IntronicSNV - 19/45 1
16-2156125-T-C c.7670A>G p.D2557G Missense 19/46 - 2
16-2156129-G-A c.7666C>T p.Q2556* Nonsense 19/46 - 6
16-2156138-C-T c.7657G>A p.V2553M Missense 19/46 - 1
16-2156153-C-G c.7642G>C p.E2548Q Missense 19/46 - 1
16-2156165-T-A c.7630A>T p.R2544W Missense 19/46 - 1
16-2156206-C-T c.7589G>A p.G2530D Missense 19/46 - 2
16-2156208-C-G c.7587G>C p.K2529N Missense 19/46 - 1
16-2156208-C-A c.7587G>T p.K2529N Missense 19/46 - 1
16-2156214-GAC-G c.7579_7580del p.V2527Lfs*67 Frameshift 19/46 - 1
16-2156229-G-T c.7566C>A p.C2522* Nonsense 19/46 - 2
16-2156229-G-A c.7566C>T p.C2522= Synonymous 19/46 - 1
16-2156249-G-A c.7546C>T p.R2516C Missense 19/46 - 1
16-2156264-C-T c.7531G>A p.A2511T Missense 19/46 - 1
16-2156282-C-A c.7513G>T p.G2505C Missense 19/46 - 3
16-2156369-G-A c.7489+30C>T - IntronicSNV - 18/45 1
16-2156404-C-T c.7484G>A p.C2495Y Missense 18/46 - 1
16-2156405-A-G c.7483T>C p.C2495R Missense 18/46 - 1
16-2156408-C-T c.7480G>A p.E2494K Missense 18/46 - 1
16-2156445-CCA-C c.7442_7443del p.L2481Rfs*19 Frameshift 18/46 - 1
16-2156447-G-A c.7441C>T p.L2481= Synonymous 18/46 - 4
16-2156450-G-A c.7438C>T p.P2480S Missense 18/46 - 1
16-2156460-G-C c.7428C>G p.C2476W Missense 18/46 - 1
16-2156466-G-GC c.7421dup p.S2475Lfs*26 Frameshift 18/46 - 1
16-2156479-G-T c.7409C>A p.P2470Q Missense 18/46 - 1
16-2156488-G-A c.7400C>T p.P2467L Missense 18/46 - 1
16-2156512-C-T c.7376G>A p.G2459D Missense 18/46 - 1
16-2156516-C-A c.7372G>T p.E2458* Nonsense 18/46 - 1
16-2156531-GGCCCAGCACCGT-G c.7345_7356del p.T2449_G2452del InFrameDeletion 18/46 - 1
16-2156537-G-C c.7351C>G p.L2451V Missense 18/46 - 1
16-2156557-T-A c.7331A>T p.Y2444F Missense 18/46 - 1
16-2156564-C-G c.7324G>C p.E2442Q Missense 18/46 - 1
16-2156565-G-A c.7323C>T p.G2441= Synonymous 18/46 - 1
16-2156567-C-T c.7321G>A p.G2441S Missense 18/46 - 1
16-2156587-C-T c.7301G>A p.R2434Q Missense 18/46 - 1
16-2156588-G-A c.7300C>T p.R2434W Missense 18/46 - 3
16-2156587-CGCA-C c.7298_7300del p.L2433del InFrameDeletion 18/46 - 2
16-2156596-A-T c.7292T>A p.L2431Q Missense 18/46 - 1
16-2156600-G-A c.7288C>T p.R2430* Nonsense 18/46 - 7
16-2156617-G-A c.7271C>T p.T2424M Missense 18/46 - 1
16-2156620-G-A c.7268C>T p.S2423F Missense 18/46 - 3
16-2156623-G-T c.7265C>A p.T2422K Missense 18/46 - 2
16-2156633-C-T c.7255G>A p.E2419K Missense 18/46 - 1
16-2156638-A-T c.7250T>A p.L2417Q Missense 18/46 - 1
16-2156647-G-A c.7241C>T p.T2414M Missense 18/46 - 2
16-2156666-G-A c.7222C>T p.R2408C Missense 18/46 - 1
16-2156673-C-T c.7215G>A p.W2405* Nonsense 18/46 - 1
16-2156674-C-A c.7214G>T p.W2405L Missense 18/46 - 1
16-2156677-C-T c.7211G>A p.R2404Q Missense 18/46 - 1
16-2156678-G-A c.7210C>T p.R2404W Missense 18/46 - 1
16-2156790-C-T c.7209+16G>A - IntronicSNV - 17/45 1
16-2156807-CCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCAAGTACACGTAGGAGCT-C c.7150_7208del p.S2384Afs*16 InFrameDeletion 17/46 - 1
16-2156811-G-A c.7204C>T p.R2402* Nonsense 17/46 - 3
16-2156831-T-C c.7184A>G p.N2395S Missense 17/46 - 1
16-2156840-C-G c.7175G>C p.R2392P Missense 17/46 - 1
16-2156850-A-G c.7165T>C p.L2389= Synonymous 17/46 - 3
16-2156851-G-T c.7164C>A p.Y2388* Nonsense 17/46 - 1
16-2156851-G-C c.7164C>G p.Y2388* Nonsense 17/46 - 1
16-2156858-T-TA c.7156dup p.Y2386Lfs*34 Frameshift 17/46 - 1
16-2156859-AGGAGCTGCGGCT-GTA c.7144_7156delinsTAC p.S2382Yfs*235 Frameshift 17/46 - 1
16-2156871-T-G c.7144A>C p.S2382R Missense 17/46 - 1
16-2156877-C-T c.7138G>A p.E2380K Missense 17/46 - 1
16-2156883-C-T c.7132G>A p.V2378M Missense 17/46 - 1
16-2156889-G-A c.7126C>T p.Q2376* Nonsense 17/46 - 1
16-2156896-G-C c.7119C>G p.C2373W Missense 17/46 - 2
16-2156897-C-T c.7118G>A p.C2373Y Missense 17/46 - 1
16-2156900-G-C c.7115C>G p.S2372C Missense 17/46 - 1
16-2156905-A-T c.7110T>A p.C2370* Nonsense 17/46 - 1
16-2156907-A-T c.7108T>A p.C2370S Missense 17/46 - 2
16-2157900-CT-C c.7049del p.E2350Gfs*8 Frameshift 16/46 - 1
16-2157901-C-T c.7048G>A p.E2350K Missense 16/46 - 1
16-2157897-GCCT-G c.7049_7051del p.E2350del InFrameDeletion 16/46 - 1
16-2157909-CG-C c.7039del p.R2347Afs*11 Frameshift 16/46 - 1
16-2157933-CTGAAGG-C c.7010_7015del p.T2337_F2338del InFrameDeletion 16/46 - 1
16-2157941-G-T c.7008C>A p.Y2336* Nonsense 16/46 - 1
16-2157941-G-C c.7008C>G p.Y2336* Nonsense 16/46 - 1
16-2157943-A-C c.7006T>G p.Y2336D Missense 16/46 - 1
16-2157949-C-T c.7000G>A p.V2334M Missense 16/46 - 1
16-2157957-G-C c.6992C>G p.A2331G Missense 16/46 - 1
16-2157961-G-C c.6988C>G p.L2330V Missense 16/46 - 1
16-2157963-C-T c.6986G>A p.R2329Q Missense 16/46 - 1
16-2157963-C-G c.6986G>C p.R2329P Missense 16/46 - 1
16-2157969-C-T c.6980G>A p.R2327Q Missense 16/46 - 1
16-2157970-G-A c.6979C>T p.R2327W Missense 16/46 - 2
16-2157980-G-A c.6969C>T p.V2323= Synonymous 16/46 - 1
16-2157984-G-A c.6965C>T p.T2322M Missense 16/46 - 1
16-2157988-T-TC c.6960_6961insG p.S2321Efs*99 Frameshift 16/46 - 1
16-2158003-C-CA c.6945dup p.G2316Wfs*104 Frameshift 16/46 - 1
16-2158014-G-A c.6935C>T p.A2312V Missense 16/46 - 1
16-2158018-AC-A c.6930del p.C2311Vfs*3 Frameshift 16/46 - 1
16-2158022-G-A c.6927C>T p.G2309= Synonymous 16/46 - 2
16-2158176-T-A c.6915+77A>T - IntronicSNV - 15/45 1
16-2158251-A-C c.6915+2T>G - IntronicSNV - 15/45 1
16-2158272-GC-G c.6895del p.A2299Pfs*15 Frameshift 15/46 - 1
16-2158277-G-C c.6891C>G p.H2297Q Missense 15/46 - 1
16-2158285-CTG-C c.6882_6883del p.S2295Ffs*124 Frameshift 15/46 - 1
16-2158290-G-A c.6878C>T p.P2293L Missense 15/46 - 3
16-2158324-A-G c.6844T>C p.Y2282H Missense 15/46 - 1
16-2158340-C-T c.6828G>A p.L2276= Synonymous 15/46 - 1
16-2158341-A-G c.6827T>C p.L2276P Missense 15/46 - 1
16-2158353-CGT-C c.6813_6814del p.R2272Gfs*147 Frameshift 15/46 - 1
16-2158363-AC-A c.6804del p.W2268Cfs*46 Frameshift 15/46 - 1
16-2158373-G-T c.6795C>A p.Y2265* Nonsense 15/46 - 1
16-2158373-G-C c.6795C>G p.Y2265* Nonsense 15/46 - 1
16-2158387-TC-T c.6781del p.E2261Rfs*53 Frameshift 15/46 - 1
16-2158388-CAAT-C c.6778_6780del p.I2260del InFrameDeletion 15/46 - 2
16-2158395-G-C c.6773C>G p.P2258R Missense 15/46 - 1
16-2158397-C-T c.6771G>A p.V2257= Synonymous 15/46 - 1
16-2158405-G-A c.6763C>T p.R2255C Missense 15/46 - 2
16-2158419-G-A c.6749C>T p.T2250M Missense 15/46 - 7
16-2158432-G-A c.6736C>T p.Q2246* Nonsense 15/46 - 1
16-2158436-GCT-G c.6730_6731del p.S2244Hfs*17 Frameshift 15/46 - 1
16-2158437-CTCTG-C c.6727_6730del p.Q2243Afs*6 Frameshift 15/46 - 1
16-2158441-G-A c.6727C>T p.Q2243* Nonsense 15/46 - 6
16-2158449-G-A c.6719C>T p.P2240L Missense 15/46 - 1
16-2158455-T-G c.6713A>C p.D2238A Missense 15/46 - 1
16-2158462-A-G c.6706T>C p.F2236L Missense 15/46 - 2
16-2158464-G-A c.6704C>T p.S2235L Missense 15/46 - 2
16-2158473-A-G c.6695T>C p.F2232S Missense 15/46 - 1
16-2158474-A-G c.6694T>C p.F2232L Missense 15/46 - 1
16-2158472-A-T c.6696T>A p.F2232L Missense 15/46 - 1
16-2158472-A-C c.6696T>G p.F2232L Missense 15/46 - 1
16-2158481-G-T c.6687C>A p.C2229* Nonsense 15/46 - 1
16-2158485-T-C c.6683A>G p.Y2228C Missense 15/46 - 1
16-2158496-CAGG-C c.6670_6672del p.P2224del InFrameDeletion 15/46 - 1
16-2158497-GGCA-G c.6668_6670del p.L2223del InFrameDeletion 15/46 - 1
16-2158510-G-A c.6658C>T p.R2220W Missense 15/46 - 7
16-2158512-G-A c.6656C>T p.P2219L Missense 15/46 - 1
16-2158524-C-T c.6644G>A p.R2215Q Missense 15/46 - 1
16-2158533-GC-G c.6635del p.S2212Tfs*30 Frameshift 15/46 - 1
16-2158533-C-T c.6635G>A p.S2212N Missense 15/46 - 1
16-2158544-G-A c.6624C>T p.G2208= Synonymous 15/46 - 1
16-2158570-G-A c.6598C>T p.R2200C Missense 15/46 - 7
16-2158570-G-T c.6598C>A p.R2200S Missense 15/46 - 2
16-2158582-G-A c.6586C>T p.Q2196* Nonsense 15/46 - 4
16-2158578-CGCTGGCA-C c.6583_6589del p.C2195Gfs*15 Frameshift 15/46 - 3
16-2158588-CTGGCGGT-C c.6574_6580del p.T2192Afs*18 Frameshift 15/46 - 2
16-2158599-T-A c.6569A>T p.Y2190F Missense 15/46 - 1
16-2158600-TACACCTCCCAG-T c.6558_6568del p.W2187Sfs*71 Frameshift 15/46 - 1
16-2158618-TCA-T c.6549_6550del p.E2184Vfs*77 Frameshift 15/46 - 1
16-2158616-CTCAG-C c.6548_6551del p.T2183Sfs*28 Frameshift 15/46 - 1
16-2158620-G-A c.6548C>T p.T2183I Missense 15/46 - 1
16-2158623-T-C c.6545A>G p.Q2182R Missense 15/46 - 1
16-2158624-G-A c.6544C>T p.Q2182* Nonsense 15/46 - 1
16-2158633-C-T c.6535G>A p.V2179I Missense 15/46 - 1
16-2158634-G-T c.6534C>A p.C2178* Nonsense 15/46 - 1
16-2158635-C-T c.6533G>A p.C2178Y Missense 15/46 - 1
16-2158636-A-T c.6532T>A p.C2178S Missense 15/46 - 1
16-2158639-C-A c.6529G>T p.D2177Y Missense 15/46 - 1
16-2158667-G-C c.6501C>G p.N2167K Missense 15/46 - 1
16-2158669-T-C c.6499A>G p.N2167D Missense 15/46 - 1
16-2158672-G-A c.6496C>T p.R2166C Missense 15/46 - 1
16-2158677-G-T c.6491C>A p.S2164* Nonsense 15/46 - 2
16-2158677-G-C c.6491C>G p.S2164* Nonsense 15/46 - 1
16-2158680-C-T c.6488G>A p.R2163Q Missense 15/46 - 1
16-2158681-G-A c.6487C>T p.R2163* Nonsense 15/46 - 2
16-2158683-C-T c.6485G>A p.R2162Q Missense 15/46 - 1
16-2158684-G-A c.6484C>T p.R2162W Missense 15/46 - 1
16-2158696-G-A c.6472C>T p.Q2158* Nonsense 15/46 - 4
16-2158702-GCAGGA-G c.6461_6465del p.V2154Afs*19 Frameshift 15/46 - 1
16-2158744-G-A c.6424C>T p.Q2142* Nonsense 15/46 - 3
16-2158768-CGAA-C c.6397_6399del p.F2133del InFrameDeletion 15/46 - 1
16-2158773-A-C c.6395T>G p.F2132C Missense 15/46 - 3
16-2158779-A-C c.6389T>G p.V2130G Missense 15/46 - 1
16-2158784-G-T c.6384C>A p.N2128K Missense 15/46 - 2
16-2158804-AC-A c.6364del p.V2122Cfs*3 Frameshift 15/46 - 1
16-2158812-GT-G c.6356del p.D2119Afs*6 Frameshift 15/46 - 1
16-2158837-C-T c.6331G>A p.E2111K Missense 15/46 - 1
16-2158861-G-A c.6307C>T p.Q2103* Nonsense 15/46 - 1
16-2158869-G-A c.6299C>T p.S2100L Missense 15/46 - 1
16-2158871-C-A c.6297G>T p.G2099= Synonymous 15/46 - 1
16-2158883-G-T c.6285C>A p.D2095E Missense 15/46 - 2
16-2158886-C-T c.6282G>A p.W2094* Nonsense 15/46 - 1
16-2158886-C-A c.6282G>T p.W2094C Missense 15/46 - 1
16-2158893-T-C c.6275A>G p.Y2092C Missense 15/46 - 1
16-2158903-G-GC c.6264dup p.R2089Afs*19 Frameshift 15/46 - 1
16-2158924-C-T c.6244G>A p.A2082T Missense 15/46 - 2
16-2158932-A-C c.6236T>G p.F2079C Missense 15/46 - 1
16-2158944-C-CAA c.6223_6224insTT p.R2075Lfs*42 Frameshift 15/46 - 1
16-2158945-G-A c.6223C>T p.R2075C Missense 15/46 - 1
16-2158946-GT-G c.6221del p.N2074Tfs*42 Frameshift 15/46 - 1
16-2158969-G-A c.6199C>T p.Q2067* Nonsense 15/46 - 1
16-2158984-G-A c.6184C>T p.Q2062* Nonsense 15/46 - 2
16-2158995-T-C c.6173A>G p.Q2058R Missense 15/46 - 2
16-2159016-C-G c.6152G>C p.R2051P Missense 15/46 - 2
16-2159017-G-A c.6151C>T p.R2051C Missense 15/46 - 1
16-2159038-T-C c.6130A>G p.N2044D Missense 15/46 - 1
16-2159053-G-A c.6115C>T p.Q2039* Nonsense 15/46 - 1
16-2159067-C-T c.6101G>A p.G2034E Missense 15/46 - 1
16-2159068-C-T c.6100G>A p.G2034R Missense 15/46 - 1
16-2159068-C-G c.6100G>C p.G2034R Missense 15/46 - 1
16-2159077-AC-A c.6091del p.V2031Wfs*85 Frameshift 15/46 - 1
16-2159077-C-T c.6091G>A p.V2031M Missense 15/46 - 1
16-2159077-CG-C c.6090del p.V2031Wfs*85 Frameshift 15/46 - 1
16-2159103-G-A c.6065C>T p.S2022L Missense 15/46 - 1
16-2159105-C-T c.6063G>A p.L2021= Synonymous 15/46 - 1
16-2159106-A-G c.6062T>C p.L2021P Missense 15/46 - 2
16-2159118-G-T c.6050C>A p.S2017* Nonsense 15/46 - 1
16-2159118-G-A c.6050C>T p.S2017L Missense 15/46 - 1
16-2159124-CCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGA-C c.6005_6043del p.V2002_Q2014del InFrameDeletion 15/46 - 1
16-2159128-G-A c.6040C>T p.Q2014* Nonsense 15/46 - 1
16-2159158-TA-T c.6010del p.Y2004Tfs*112 Frameshift 15/46 - 1
16-2159167-G-A c.6001C>T p.R2001W Missense 15/46 - 1
16-2159169-G-C c.5999C>G p.S2000C Missense 15/46 - 1
16-2159173-C-T c.5995G>A p.G1999S Missense 15/46 - 2
16-2159190-GT-AG c.5977_5978delinsCT p.T1993L Missense 15/46 - 1
16-2159194-A-G c.5974T>C p.F1992L Missense 15/46 - 2
16-2159192-G-T c.5976C>A p.F1992L Missense 15/46 - 2
16-2159192-G-C c.5976C>G p.F1992L Missense 15/46 - 2
16-2159194-AAGTTC-A c.5970_5974del p.R1990Sfs*58 Frameshift 15/46 - 1
16-2159198-CCT-C c.5968_5969del p.R1990Efs*59 Frameshift 15/46 - 1
16-2159204-A-AC c.5963_5964insG p.E1989* Nonsense 15/46 - 1
16-2159211-G-A c.5957C>T p.T1986M Missense 15/46 - 1
16-2159215-C-T c.5953G>A p.A1985T Missense 15/46 - 1
16-2159245-G-A c.5923C>T p.Q1975* Nonsense 15/46 - 1
16-2159254-TCA-T c.5912_5913del p.V1971Efs*18 Frameshift 15/46 - 1
16-2159259-G-C c.5909C>G p.A1970G Missense 15/46 - 1
16-2159290-G-A c.5878C>T p.Q1960* Nonsense 15/46 - 2
16-2159295-C-T c.5873G>A p.W1958* Nonsense 15/46 - 1
16-2159302-C-T c.5866G>A p.V1956M Missense 15/46 - 1
16-2159304-TG-T c.5863del p.H1955Tfs*2 Frameshift 15/46 - 1
16-2159313-C-T c.5855G>A p.G1952D Missense 15/46 - 2
16-2159316-C-T c.5852G>A p.R1951Q Missense 15/46 - 2
16-2159320-C-T c.5848G>A p.V1950M Missense 15/46 - 2
16-2159321-G-A c.5847C>T p.S1949= Synonymous 15/46 - 1
16-2159338-C-T c.5830G>A p.G1944R Missense 15/46 - 5
16-2159338-C-G c.5830G>C p.G1944R Missense 15/46 - 1
16-2159343-C-T c.5825G>A p.R1942H Missense 15/46 - 2
16-2159344-G-A c.5824C>T p.R1942C Missense 15/46 - 1
16-2159353-T-TG c.5814dup p.S1939Qfs*51 Frameshift 15/46 - 1
16-2159383-C-A c.5785G>T p.E1929* Nonsense 15/46 - 2
16-2159385-G-C c.5783C>G p.P1928R Missense 15/46 - 1
16-2159391-G-A c.5777C>T p.A1926V Missense 15/46 - 1
16-2159404-G-A c.5764C>T p.Q1922* Nonsense 15/46 - 2
16-2159405-C-T c.5763G>A p.L1921= Synonymous 15/46 - 3
16-2159427-C-G c.5741G>C p.G1914A Missense 15/46 - 1
16-2159430-G-A c.5738C>T p.A1913V Missense 15/46 - 1
16-2159446-G-A c.5722C>T p.Q1908* Nonsense 15/46 - 2
16-2159486-G-C c.5682C>G p.A1894= Synonymous 15/46 - 1
16-2159486-G-A c.5682C>T p.A1894= Synonymous 15/46 - 1
16-2159490-C-T c.5678G>A p.W1893* Nonsense 15/46 - 1
16-2159489-C-T c.5679G>A p.W1893* Nonsense 15/46 - 1
16-2159518-C-A c.5650G>T p.E1884* Nonsense 15/46 - 1
16-2159520-G-A c.5648C>T p.A1883V Missense 15/46 - 1
16-2159531-G-C c.5637C>G p.Y1879* Nonsense 15/46 - 1
16-2159535-G-A c.5633C>T p.T1878M Missense 15/46 - 1
16-2159541-G-C c.5627C>G p.S1876* Nonsense 15/46 - 1
16-2159557-C-T c.5611G>A p.A1871T Missense 15/46 - 4
16-2159558-G-C c.5610C>G p.N1870K Missense 15/46 - 1
16-2159568-T-C c.5600A>G p.N1867S Missense 15/46 - 2
16-2159572-GC-G c.5595del p.L1866Sfs*83 Frameshift 15/46 - 1
16-2159575-G-A c.5593C>T p.R1865W Missense 15/46 - 1
16-2159595-TC-T c.5572del p.D1858Mfs*91 Frameshift 15/46 - 1
16-2159620-G-A c.5548C>T p.P1850S Missense 15/46 - 1
16-2159623-C-G c.5545G>C p.G1849R Missense 15/46 - 1
16-2159625-C-T c.5543G>A p.R1848H Missense 15/46 - 1
16-2159651-C-A c.5517G>T p.W1839C Missense 15/46 - 2
16-2159653-A-T c.5515T>A p.W1839R Missense 15/46 - 1
16-2159674-C-T c.5494G>A p.G1832S Missense 15/46 - 1
16-2159686-G-A c.5482C>T p.Q1828* Nonsense 15/46 - 1
16-2159691-C-T c.5477G>A p.W1826* Nonsense 15/46 - 2
16-2159690-C-T c.5478G>A p.W1826* Nonsense 15/46 - 1
16-2159767-G-A c.5401C>T p.P1801S Missense 15/46 - 1
16-2159773-G-A c.5395C>T p.Q1799* Nonsense 15/46 - 1
16-2159794-C-T c.5374G>A p.A1792T Missense 15/46 - 1
16-2159812-G-A c.5356C>T p.P1786S Missense 15/46 - 1
16-2159815-T-TCA c.5352_5353insTG p.N1785* Nonsense 15/46 - 1
16-2159850-G-A c.5318C>T p.T1773I Missense 15/46 - 1
16-2159857-A-G c.5311T>C p.F1771L Missense 15/46 - 1
16-2159855-G-T c.5313C>A p.F1771L Missense 15/46 - 1
16-2159855-G-C c.5313C>G p.F1771L Missense 15/46 - 1
16-2159863-G-A c.5305C>T p.H1769Y Missense 15/46 - 3
16-2159865-G-T c.5303C>A p.T1768N Missense 15/46 - 1
16-2159956-G-A c.5212C>T p.L1738F Missense 15/46 - 1
16-2159958-G-C c.5210C>G p.T1737S Missense 15/46 - 1
16-2159959-T-A c.5209A>T p.T1737S Missense 15/46 - 1
16-2159987-CG-C c.5180del p.P1727Rfs*32 Frameshift 15/46 - 1
16-2159996-G-A c.5172C>T p.A1724= Synonymous 15/46 - 4
16-2160048-C-T c.5120G>A p.W1707* Nonsense 15/46 - 1
16-2160072-G-T c.5096C>A p.A1699D Missense 15/46 - 1
16-2160074-CC-AT c.5093_5094delinsAT p.R1698H Missense 15/46 - 1
16-2160078-A-C c.5090T>G p.L1697R Missense 15/46 - 1
16-2160082-G-A c.5086C>T p.Q1696* Nonsense 15/46 - 1
16-2160089-G-T c.5079C>A p.Y1693* Nonsense 15/46 - 1
16-2160089-G-C c.5079C>G p.Y1693* Nonsense 15/46 - 1
16-2160117-G-A c.5051C>T p.S1684L Missense 15/46 - 1
16-2160131-G-C c.5037C>G p.S1679R Missense 15/46 - 1
16-2160131-G-T c.5037C>A p.S1679R Missense 15/46 - 1
16-2160133-T-G c.5035A>C p.S1679R Missense 15/46 - 1
16-2160153-CCT-C c.5014_5015del p.R1672Gfs*98 Frameshift 15/46 - 17
16-2160199-TA-G c.4968_4969delinsC p.R1657Gfs*65 Frameshift 15/46 - 1
16-2160199-CT-C c.4969del p.R1657Gfs*65 Frameshift 15/46 - 1
16-2160207-G-T c.4961C>A p.A1654D Missense 15/46 - 1
16-2160211-G-A c.4957C>T p.Q1653* Nonsense 15/46 - 1
16-2160234-G-A c.4934C>T p.P1645L Missense 15/46 - 1
16-2160232-TG-T c.4935del p.T1646Pfs*76 Frameshift 15/46 - 1
16-2160249-C-T c.4919G>A p.G1640D Missense 15/46 - 1
16-2160251-G-GC c.4916dup p.G1640Rfs*18 Frameshift 15/46 - 1
16-2160270-T-TA c.4897_4898insT p.E1633Vfs*25 Frameshift 15/46 - 1
16-2160280-G-A c.4888C>T p.Q1630* Nonsense 15/46 - 2
16-2160284-GACAT-G c.4880_4883del p.Y1627Sfs*5 Frameshift 15/46 - 1
16-2160287-A-T c.4881T>A p.Y1627* Nonsense 15/46 - 1
16-2160307-G-A c.4861C>T p.Q1621* Nonsense 15/46 - 1
16-2160310-C-T c.4858G>A p.A1620T Missense 15/46 - 1
16-2160312-G-A c.4856C>T p.S1619F Missense 15/46 - 3
16-2160322-C-A c.4846G>T p.E1616* Nonsense 15/46 - 1
16-2160337-C-T c.4831G>A p.V1611I Missense 15/46 - 2
16-2160337-CGAT-C c.4828_4830del p.I1610del InFrameDeletion 15/46 - 1
16-2160351-G-C c.4817C>G p.T1606S Missense 15/46 - 1
16-2160358-C-T c.4810G>A p.V1604M Missense 15/46 - 2
16-2160363-CG-C c.4804del p.R1602Afs*31 Frameshift 15/46 - 1
16-2160369-G-GT c.4798dup p.T1600Nfs*15 Frameshift 15/46 - 1
16-2160371-G-T c.4797C>A p.Y1599* Nonsense 15/46 - 2
16-2160371-G-C c.4797C>G p.Y1599* Nonsense 15/46 - 2
16-2160409-G-A c.4759C>T p.R1587C Missense 15/46 - 1
16-2160422-C-T c.4746G>A p.W1582* Nonsense 15/46 - 1
16-2160423-C-G c.4745G>C p.W1582S Missense 15/46 - 1
16-2160459-G-A c.4709C>T p.T1570M Missense 15/46 - 5
16-2160470-C-CT c.4697_4698insA p.S1567Efs*11 Frameshift 15/46 - 1
16-2160494-C-T c.4674G>A p.T1558= Synonymous 15/46 - 5
16-2160494-C-A c.4674G>T p.T1558= Synonymous 15/46 - 2
16-2160494-C-G c.4674G>C p.T1558= Synonymous 15/46 - 2
16-2160503-T-G c.4665A>C p.A1555= Synonymous 15/46 - 4
16-2160504-G-C c.4664C>G p.A1555G Missense 15/46 - 1
16-2160538-CCGTCA-C c.4625_4629del p.V1542Gfs*34 Frameshift 15/46 - 1
16-2160555-G-C c.4613C>G p.A1538G Missense 15/46 - 1
16-2160559-C-A c.4609G>T p.E1537* Nonsense 15/46 - 5
16-2160587-CCACCCTAACGGTGAAGTCACCTGTGCTGTTG-C c.4551_4581del p.Y1517* Frameshift 15/46 - 1
16-2160591-C-T c.4577G>A p.R1526K Missense 15/46 - 1
16-2160597-G-A c.4571C>T p.T1524I Missense 15/46 - 1
16-2160617-G-T c.4551C>A p.Y1517* Nonsense 15/46 - 3
16-2160617-G-C c.4551C>G p.Y1517* Nonsense 15/46 - 1
16-2160618-T-G c.4550A>C p.Y1517S Missense 15/46 - 1
16-2160622-C-T c.4546G>A p.A1516T Missense 15/46 - 5
16-2160648-C-T c.4520G>A p.W1507* Nonsense 15/46 - 1
16-2160661-C-T c.4507G>A p.G1503R Missense 15/46 - 1
16-2160673-G-A c.4495C>T p.L1499= Synonymous 15/46 - 2
16-2160693-C-G c.4475G>C p.R1492P Missense 15/46 - 1
16-2160713-G-T c.4455C>A p.Y1485* Nonsense 15/46 - 1
16-2160713-G-C c.4455C>G p.Y1485* Nonsense 15/46 - 1
16-2160716-C-T c.4452G>A p.P1484= Synonymous 15/46 - 1
16-2160721-G-A c.4447C>T p.Q1483* Nonsense 15/46 - 2
16-2160724-G-A c.4444C>T p.Q1482* Nonsense 15/46 - 1
16-2160729-T-C c.4439A>G p.E1480G Missense 15/46 - 1
16-2160733-AG-A c.4435del p.L1479Wfs*55 Frameshift 15/46 - 1
16-2160745-CCA-C c.4422_4423del p.N1474Kfs*48 Frameshift 15/46 - 1
16-2160752-CTTGA-C c.4412_4415del p.I1471Rfs*62 Frameshift 15/46 - 1
16-2160777-T-C c.4391A>G p.E1464G Missense 15/46 - 1
16-2160787-CCA-C c.4379_4380del p.V1460Gfs*62 Frameshift 15/46 - 1
16-2160794-GGCTGA-G c.4369_4373del p.S1457Pfs*64 Frameshift 15/46 - 2
16-2160797-TGA-T c.4369_4370del p.A1458Pfs*64 Frameshift 15/46 - 1
16-2160816-ATGT-A c.4349_4351del p.N1450del InFrameDeletion 15/46 - 1
16-2160828-G-A c.4340C>T p.A1447V Missense 15/46 - 2
16-2160846-TAGG-T c.4319_4321del p.S1440del InFrameDeletion 15/46 - 1
16-2160862-G-A c.4306C>T p.R1436* Nonsense 15/46 - 4
16-2160883-G-A c.4285C>T p.P1429S Missense 15/46 - 1
16-2160895-G-A c.4273C>T p.R1425C Missense 15/46 - 1
16-2160904-C-T c.4264G>A p.A1422T Missense 15/46 - 1
16-2160926-C-A c.4242G>T p.W1414C Missense 15/46 - 1
16-2160926-C-G c.4242G>C p.W1414C Missense 15/46 - 1
16-2160927-C-T c.4241G>A p.W1414* Nonsense 15/46 - 1
16-2160926-C-T c.4242G>A p.W1414* Nonsense 15/46 - 1
16-2160947-C-CG c.4220dup p.F1408Vfs*23 Frameshift 15/46 - 1
16-2160964-C-T c.4204G>A p.A1402T Missense 15/46 - 1
16-2160969-CA-C c.4199del p.L1400Rfs*32 Frameshift 15/46 - 2
16-2160973-A-G c.4195T>C p.W1399R Missense 15/46 - 6
16-2160973-A-T c.4195T>A p.W1399R Missense 15/46 - 1
16-2160985-C-T c.4183G>A p.G1395R Missense 15/46 - 1
16-2160985-C-G c.4183G>C p.G1395R Missense 15/46 - 1
16-2160991-G-A c.4177C>T p.Q1393* Nonsense 15/46 - 3
16-2161027-C-T c.4141G>A p.G1381S Missense 15/46 - 1
16-2161044-C-T c.4124G>A p.C1375Y Missense 15/46 - 1
16-2161078-G-A c.4090C>T p.R1364C Missense 15/46 - 1
16-2161084-A-G c.4084T>C p.S1362P Missense 15/46 - 1
16-2161097-C-A c.4071G>T p.L1357= Synonymous 15/46 - 1
16-2161098-AG-A c.4069del p.L1357Wfs*9 Frameshift 15/46 - 1
16-2161111-C-T c.4057G>A p.G1353S Missense 15/46 - 1
16-2161112-G-A c.4056C>T p.S1352= Synonymous 15/46 - 1
16-2161113-C-T c.4055G>A p.S1352N Missense 15/46 - 1
16-2161115-CCG-C c.4051_4052del p.R1351Efs*79 Frameshift 15/46 - 1
16-2161119-G-A c.4049C>T p.T1350M Missense 15/46 - 1
16-2161135-C-T c.4033G>A p.V1345M Missense 15/46 - 1
16-2161137-G-A c.4031C>T p.T1344M Missense 15/46 - 1
16-2161150-G-A c.4018C>T p.R1340W Missense 15/46 - 1
16-2161174-C-T c.3994G>A p.D1332N Missense 15/46 - 4
16-2161184-C-G c.3984G>C p.W1328C Missense 15/46 - 1
16-2161186-A-G c.3982T>C p.W1328R Missense 15/46 - 1
16-2161213-C-T c.3955G>A p.G1319R Missense 15/46 - 2
16-2161213-C-G c.3955G>C p.G1319R Missense 15/46 - 1
16-2161220-G-A c.3948C>T p.Y1316= Synonymous 15/46 - 1
16-2161237-C-T c.3931G>A p.A1311T Missense 15/46 - 1
16-2161238-CGT-C c.3929_3930del p.D1310Gfs*120 Frameshift 15/46 - 1
16-2161244-CTGCGTGGGGA-C c.3914_3923del p.I1305Sfs*38 Frameshift 15/46 - 2
16-2161285-C-A c.3883G>T p.E1295* Nonsense 15/46 - 1
16-2161291-C-A c.3877G>T p.V1293F Missense 15/46 - 1
16-2161292-G-T c.3876C>A p.F1292L Missense 15/46 - 1
16-2161300-G-C c.3868C>G p.L1290V Missense 15/46 - 2
16-2161303-C-T c.3865G>A p.V1289M Missense 15/46 - 1
16-2161312-TC-T c.3855del p.S1286Afs*60 Frameshift 15/46 - 2
16-2161320-AGGTGGCCGGCGGGGCTG-A c.3831_3847del p.S1278Gfs*17 Frameshift 15/46 - 1
16-2161328-G-A c.3840C>T p.A1280= Synonymous 15/46 - 1
16-2161334-G-T c.3834C>A p.S1278R Missense 15/46 - 1
16-2161340-C-T c.3828G>A p.A1276= Synonymous 15/46 - 1
16-2161343-AC-A c.3824del p.G1275Vfs*71 Frameshift 15/46 - 1
16-2161348-C-T c.3820G>A p.V1274M Missense 15/46 - 3
16-2161349-G-A c.3819C>T p.T1273= Synonymous 15/46 - 1
16-2161376-G-T c.3792C>A p.Y1264* Nonsense 15/46 - 1
16-2161383-T-TG c.3784dup p.H1262Pfs*39 Frameshift 15/46 - 1
16-2161387-C-CA c.3780_3781insT p.E1261* Nonsense 15/46 - 1
16-2161407-G-A c.3761C>T p.S1254L Missense 15/46 - 1
16-2161422-TC-T c.3745del p.D1249Tfs*24 Frameshift 15/46 - 1
16-2161433-G-A c.3735C>T p.F1245= Synonymous 15/46 - 1
16-2161443-G-A c.3725C>T p.T1242M Missense 15/46 - 1
16-2161483-AC-A c.3685del p.V1229Wfs*44 Frameshift 15/46 - 1
16-2161525-G-C c.3643C>G p.L1215V Missense 15/46 - 1
16-2161540-C-T c.3628G>A p.E1210K Missense 15/46 - 1
16-2161546-C-T c.3622G>A p.V1208I Missense 15/46 - 1
16-2161547-GCGCACATCCGCCTGGGCCGC-G c.3601_3620del p.A1201Rfs*3 Frameshift 15/46 - 1
16-2161555-C-G c.3613G>C p.D1205H Missense 15/46 - 1
16-2161556-CGC-ACA c.3610_3612delinsTGT p.A1204C Missense 15/46 - 1
16-2161561-G-A c.3607C>T p.Q1203* Nonsense 15/46 - 1
16-2161566-G-A c.3602C>T p.A1201V Missense 15/46 - 1
16-2161581-G-A c.3587C>T p.T1196M Missense 15/46 - 1
16-2161614-C-T c.3554G>A p.G1185D Missense 15/46 - 1
16-2161615-C-T c.3553G>A p.G1185S Missense 15/46 - 1
16-2161620-G-C c.3548C>G p.S1183W Missense 15/46 - 2
16-2161626-T-C c.3542A>G p.Y1181C Missense 15/46 - 1
16-2161654-G-A c.3514C>T p.Q1172* Nonsense 15/46 - 1
16-2161655-G-C c.3513C>G p.T1171= Synonymous 15/46 - 1
16-2161660-GGACA-G c.3504_3507del p.V1169* Frameshift 15/46 - 1
16-2161665-G-C c.3503C>G p.P1168R Missense 15/46 - 1
16-2161666-G-C c.3502C>G p.P1168A Missense 15/46 - 1
16-2161666-G-A c.3502C>T p.P1168S Missense 15/46 - 2
16-2161672-C-T c.3496G>A p.G1166S Missense 15/46 - 2
16-2161673-G-A c.3495C>T p.D1165= Synonymous 15/46 - 1
16-2161675-C-T c.3493G>A p.D1165N Missense 15/46 - 1
16-2161691-G-T c.3477C>A p.Y1159* Nonsense 15/46 - 1
16-2161691-G-C c.3477C>G p.Y1159* Nonsense 15/46 - 1
16-2161724-C-A c.3444G>T p.P1148= Synonymous 15/46 - 1
16-2161724-C-T c.3444G>A p.P1148= Synonymous 15/46 - 1
16-2161724-C-G c.3444G>C p.P1148= Synonymous 15/46 - 1
16-2161738-C-T c.3430G>A p.V1144I Missense 15/46 - 1
16-2161743-C-A c.3425G>T p.R1142L Missense 15/46 - 1
16-2161756-G-T c.3412C>A p.L1138M Missense 15/46 - 1
16-2161788-G-A c.3380C>T p.P1127L Missense 15/46 - 1
16-2161793-G-A c.3375C>T p.S1125= Synonymous 15/46 - 4
16-2161796-G-A c.3372C>T p.A1124= Synonymous 15/46 - 3
16-2161806-C-T c.3362G>A p.S1121N Missense 15/46 - 1
16-2161819-G-A c.3349C>T p.Q1117* Nonsense 15/46 - 1
16-2161852-G-C c.3316C>G p.L1106V Missense 15/46 - 1
16-2161854-A-C c.3314T>G p.V1105G Missense 15/46 - 1
16-2161855-C-CG c.3312dup p.V1105Rfs*5 Frameshift 15/46 - 1
16-2162346-GCAGCGTAGGTGTGCATGA-G c.3272_3289del p.V1091_A1096del InFrameDeletion 14/46 - 1
16-2162352-T-C c.3284A>G p.Y1095C Missense 14/46 - 1
16-2162361-A-G c.3275T>C p.M1092T Missense 14/46 - 3
16-2162400-GT-G c.3236del p.D1079Afs*25 Frameshift 14/46 - 1
16-2162408-CG-C c.3227del p.P1076Rfs*28 Frameshift 14/46 - 1
16-2162412-A-T c.3224T>A p.F1075Y Missense 14/46 - 1
16-2162420-G-GT c.3215dup p.N1072Kfs*29 Frameshift 14/46 - 1
16-2162433-TG-T c.3202del p.Q1068Sfs*36 Frameshift 14/46 - 1
16-2162442-T-G c.3194A>C p.H1065P Missense 14/46 - 1
16-2162443-G-T c.3193C>A p.H1065N Missense 14/46 - 1
16-2162452-G-A c.3184C>T p.Q1062* Nonsense 14/46 - 1
16-2162479-C-T c.3162-5G>A - IntronicSNV - 13/45 1
16-2162810-G-T c.3140C>A p.S1047* Nonsense 13/46 - 1
16-2162817-C-T c.3133G>A p.V1045M Missense 13/46 - 4
16-2162818-CA-AT c.3131_3132delinsAT p.L1044H Missense 13/46 - 1
16-2162839-T-C c.3111A>G p.L1037= Synonymous 13/46 - 2
16-2162850-T-C c.3100A>G p.N1034D Missense 13/46 - 1
16-2162882-T-C c.3068A>G p.Q1023R Missense 13/46 - 2
16-2162882-CT-C c.3068del p.Q1023Rfs*15 Frameshift 13/46 - 1
16-2162887-A-G c.3063T>C p.G1021= Synonymous 13/46 - 4
16-2162892-G-A c.3058C>T p.Q1020* Nonsense 13/46 - 2
16-2162913-C-T c.3037G>A p.V1013M Missense 13/46 - 1
16-2162915-G-A c.3035C>T p.T1012I Missense 13/46 - 1
16-2162919-C-T c.3031G>A p.V1011I Missense 13/46 - 1
16-2162938-CGTTG-C c.3009_3012del p.S1003Rfs*4 Frameshift 13/46 - 1
16-2163157-C-T c.2985+5G>A - IntronicSNV - 12/45 1
16-2163158-C-T c.2985+4G>A - IntronicSNV - 12/45 1
16-2163167-G-A c.2980C>T p.L994F Missense 12/46 - 1
16-2163215-G-A c.2932C>T p.Q978* Nonsense 12/46 - 1
16-2163248-A-T c.2899T>A p.W967R Missense 12/46 - 2
16-2163248-A-G c.2899T>C p.W967R Missense 12/46 - 2
16-2163250-C-G c.2897G>C p.R966P Missense 12/46 - 1
16-2163262-TC-T c.2884del p.D962Tfs*14 Frameshift 12/46 - 1
16-2163268-C-T c.2879G>A p.G960D Missense 12/46 - 1
16-2163269-C-T c.2878G>A p.G960S Missense 12/46 - 1
16-2163281-CG-C c.2865del p.V956Wfs*20 Frameshift 12/46 - 1
16-2163579-G-C c.2854-286C>G - IntronicSNV - 11/45 1
16-2164172-A-G c.2852T>C p.V951A Missense 11/46 - 1
16-2164175-A-G c.2849T>C p.L950P Missense 11/46 - 1
16-2164190-A-G c.2834T>C p.V945A Missense 11/46 - 1
16-2164189-TAC-T c.2833_2834del p.V945Tfs*155 Frameshift 11/46 - 1
16-2164194-G-A c.2830C>T p.R944C Missense 11/46 - 1
16-2164197-CCTCGGGG-C c.2820_2826del p.S940Rfs*9 Frameshift 11/46 - 1
16-2164211-G-A c.2813C>T p.T938M Missense 11/46 - 2
16-2164214-G-A c.2810C>T p.A937V Missense 11/46 - 1
16-2164244-G-A c.2780C>T p.T927M Missense 11/46 - 1
16-2164276-GCT-CTC c.2746_2748delinsGAG p.S916E Missense 11/46 - 2
16-2164277-CT-GC c.2746_2747delinsGC p.S916A Missense 11/46 - 8
16-2164277-CT-GG c.2746_2747delinsCC p.S916P Missense 11/46 - 1
16-2164290-C-T c.2734G>A p.V912M Missense 11/46 - 1
16-2164294-G-A c.2730C>T p.D910= Synonymous 11/46 - 4
16-2164299-C-T c.2725G>A p.V909M Missense 11/46 - 1
16-2164308-CCCCCT-C c.2711_2715del p.E904Gfs*195 Frameshift 11/46 - 1
16-2164311-CCT-C c.2711_2712del p.E904Gfs*196 Frameshift 11/46 - 1
16-2164324-C-T c.2700G>A p.P900= Synonymous 11/46 - 3
16-2164330-T-G c.2694A>C p.A898= Synonymous 11/46 - 1
16-2164333-TACCACTGAGA-T c.2681_2690del p.F894* Frameshift 11/46 - 1
16-2164349-G-GT c.2674dup p.T892Nfs*13 Frameshift 11/46 - 1
16-2164365-CA-C c.2659del p.W887Gfs*11 Frameshift 11/46 - 2
16-2164380-C-T c.2644G>A p.V882M Missense 11/46 - 1
16-2164404-A-AG c.2619dup p.C874Lfs*31 Frameshift 11/46 - 1
16-2164406-A-G c.2618T>C p.V873A Missense 11/46 - 1
16-2164418-CG-C c.2605del p.R869Afs*29 Frameshift 11/46 - 1
16-2164442-C-T c.2582G>A p.W861* Nonsense 11/46 - 2
16-2164445-C-T c.2579G>A p.R860H Missense 11/46 - 1
16-2164466-GCACCAGAGTC-G c.2548_2557del p.D850Pfs*45 Frameshift 11/46 - 1
16-2164470-CAG-C c.2552_2553del p.S851Wfs*20 Frameshift 11/46 - 1
16-2164487-AC-GG c.2536_2537delinsCC p.V846P Missense 11/46 - 1
16-2164490-A-G c.2534T>C p.L845S Missense 11/46 - 4
16-2164497-A-G c.2527T>C p.S843P Missense 11/46 - 1
16-2164509-G-A c.2515C>T p.P839S Missense 11/46 - 1
16-2164517-A-G c.2507T>C p.L836P Missense 11/46 - 1
16-2164520-CG-GC c.2503_2504delinsGC p.R835A Missense 11/46 - 1
16-2164529-C-CG c.2494dup p.R832Pfs*40 Frameshift 11/46 - 1
16-2164546-TG-T c.2478del p.I827Sfs*71 Frameshift 11/46 - 1
16-2164549-CCG-C c.2473_2474del p.R825Gfs*46 Frameshift 11/46 - 1
16-2164564-T-G c.2460A>C p.P820= Synonymous 11/46 - 1
16-2164566-G-A c.2458C>T p.P820S Missense 11/46 - 1
16-2164637-T-C c.2387A>G p.Y796C Missense 11/46 - 1
16-2164647-G-A c.2377C>T p.P793S Missense 11/46 - 1
16-2164695-G-A c.2329C>T p.Q777* Nonsense 11/46 - 1
16-2164705-T-C c.2319A>G p.A773= Synonymous 11/46 - 1
16-2164705-T-G c.2319A>C p.A773= Synonymous 11/46 - 1
16-2164705-T-A c.2319A>T p.A773= Synonymous 11/46 - 1
16-2164755-G-A c.2269C>T p.Q757* Nonsense 11/46 - 1
16-2164755-G-T c.2269C>A p.Q757K Missense 11/46 - 1
16-2164775-C-T c.2249G>A p.W750* Nonsense 11/46 - 1
16-2164778-G-T c.2246C>A p.S749* Nonsense 11/46 - 1
16-2164778-G-C c.2246C>G p.S749* Nonsense 11/46 - 1
16-2164781-GA-TC c.2242_2243inv p.S748E Missense 11/46 - 3
16-2164789-G-T c.2235C>A p.A745= Synonymous 11/46 - 1
16-2164789-G-C c.2235C>G p.A745= Synonymous 11/46 - 1
16-2164789-G-A c.2235C>T p.A745= Synonymous 11/46 - 1
16-2164790-G-C c.2234C>G p.A745G Missense 11/46 - 1
16-2164792-GGA-CTC c.2230_2232delinsGAG p.S744E Missense 11/46 - 10
16-2164794-A-C c.2230T>G p.S744A Missense 11/46 - 6
16-2164808-C-G c.2216G>C p.R739P Missense 11/46 - 3
16-2164808-C-T c.2216G>A p.R739Q Missense 11/46 - 3
16-2164809-G-A c.2215C>T p.R739W Missense 11/46 - 1
16-2164810-G-C c.2214C>G p.P738= Synonymous 11/46 - 1
16-2164844-A-G c.2180T>C p.L727P Missense 11/46 - 8
16-2164848-G-A c.2176C>T p.L726F Missense 11/46 - 1
16-2164865-T-G c.2159A>C p.D720A Missense 11/46 - 1
16-2164867-CG-C c.2157del p.H719Qfs*66 Frameshift 11/46 - 1
16-2164873-C-A c.2151G>T p.L717F Missense 11/46 - 1
16-2164889-C-G c.2135G>C p.G712A Missense 11/46 - 1
16-2164911-G-A c.2113C>T p.Q705* Nonsense 11/46 - 1
16-2164922-G-T c.2102C>A p.T701N Missense 11/46 - 2
16-2165379-C-A c.2097G>T p.S699= Synonymous 10/46 - 1
16-2165380-G-A c.2096C>T p.S699L Missense 10/46 - 1
16-2165382-G-C c.2094C>G p.Y698* Nonsense 10/46 - 1
16-2165386-TG-GC c.2089_2090delinsGC p.Q697A Missense 10/46 - 1
16-2165390-C-T c.2086G>A p.A696T Missense 10/46 - 1
16-2165395-G-A c.2081C>T p.P694L Missense 10/46 - 4
16-2165390-C-CG c.2085dup p.A696Rfs*18 Frameshift 10/46 - 2
16-2165398-C-G c.2078G>C p.G693A Missense 10/46 - 1
16-2165402-C-T c.2074G>A p.A692T Missense 10/46 - 1
16-2165407-A-T c.2069T>A p.V690D Missense 10/46 - 1
16-2165426-T-A c.2050A>T p.R684* Nonsense 10/46 - 1
16-2165429-A-T c.2047T>A p.W683R Missense 10/46 - 1
16-2165429-A-G c.2047T>C p.W683R Missense 10/46 - 1
16-2165437-T-A c.2039A>T p.Y680F Missense 10/46 - 2
16-2165461-C-A c.2015G>T p.G672V Missense 10/46 - 1
16-2165470-C-A c.2006G>T p.C669F Missense 10/46 - 1
16-2165504-C-T c.1972G>A p.A658T Missense 10/46 - 1
16-2165510-G-C c.1966C>G p.L656V Missense 10/46 - 1
16-2165512-G-A c.1964C>T p.P655L Missense 10/46 - 1
16-2165554-A-G c.1922T>C p.M641T Missense 10/46 - 1
16-2165564-G-A c.1912C>T p.P638S Missense 10/46 - 1
16-2165566-G-A c.1910C>T p.A637V Missense 10/46 - 2
16-2165630-T-A c.1850-4A>T - IntronicSNV - 9/45 1
16-2165630-T-C c.1850-4A>G - IntronicSNV - 9/45 1
16-2165966-CCCACCACCCACCA-C c.1849+14_1849+26del - IntronicDeletion - 9/45 1
16-2165994-T-C c.1848A>G p.A616= Synonymous 9/46 - 1
16-2166011-G-A c.1831C>T p.R611W Missense 9/46 - 1
16-2166012-G-T c.1830C>A p.Y610* Nonsense 9/46 - 1
16-2166012-G-C c.1830C>G p.Y610* Nonsense 9/46 - 1
16-2166017-C-G c.1825G>C p.V609L Missense 9/46 - 1
16-2166017-C-A c.1825G>T p.V609L Missense 9/46 - 1
16-2166039-CCG-AAA c.1801_1803delinsTTT p.R601F Missense 9/46 - 1
16-2166040-CG-GC c.1801_1802delinsGC p.R601A Missense 9/46 - 1
16-2166040-CG-TT c.1801_1802delinsAA p.R601K Missense 9/46 - 1
16-2166053-G-A c.1789C>T p.Q597* Nonsense 9/46 - 1
16-2166052-TG-T c.1789del p.Q597Rfs*188 Frameshift 9/46 - 1
16-2166061-A-T c.1781T>A p.F594Y Missense 9/46 - 2
16-2166062-AT-A c.1779del p.E593Dfs*192 Frameshift 9/46 - 1
16-2166077-G-A c.1765C>T p.L589F Missense 9/46 - 1
16-2166083-C-A c.1759G>T p.A587S Missense 9/46 - 1
16-2166106-G-A c.1736C>T p.P579L Missense 9/46 - 1
16-2166112-A-G c.1730T>C p.V577A Missense 9/46 - 1
16-2166115-A-G c.1727T>C p.M576T Missense 9/46 - 1
16-2166524-G-A c.1722+6C>T - IntronicSNV - 8/45 1
16-2166529-C-G c.1722+1G>C - IntronicSNV - 8/45 1
16-2166530-C-A c.1722G>T p.E574D Missense 8/46 - 1
16-2166531-T-C c.1721A>G p.E574G Missense 8/46 - 1
16-2166538-G-A c.1714C>T p.P572S Missense 8/46 - 1
16-2166570-G-A c.1682C>T p.A561V Missense 8/46 - 1
16-2166579-G-A c.1673C>T p.T558M Missense 8/46 - 1
16-2166833-C-T c.1606+1G>A - IntronicSNV - 7/45 1
16-2166833-C-G c.1606+1G>C - IntronicSNV - 7/45 1
16-2166834-C-T c.1606G>A p.G536S Missense 7/46 - 1
16-2166843-G-A c.1597C>T p.Q533* Nonsense 7/46 - 1
16-2166846-G-C c.1594C>G p.L532V Missense 7/46 - 1
16-2166849-C-T c.1591G>A p.E531K Missense 7/46 - 1
16-2166850-G-A c.1590C>T p.C530= Synonymous 7/46 - 1
16-2166851-C-T c.1589G>A p.C530Y Missense 7/46 - 1
16-2166857-T-C c.1583A>G p.Y528C Missense 7/46 - 10
16-2166872-G-C c.1568C>G p.S523* Nonsense 7/46 - 1
16-2166882-C-T c.1558G>A p.D520N Missense 7/46 - 1
16-2166911-C-G c.1529G>C p.R510P Missense 7/46 - 1
16-2166916-G-T c.1524C>A p.C508* Nonsense 7/46 - 1
16-2166918-A-G c.1522T>C p.C508R Missense 7/46 - 2
16-2166930-T-C c.1510A>G p.T504A Missense 7/46 - 1
16-2166942-G-A c.1498C>T p.P500S Missense 7/46 - 1
16-2166963-G-A c.1477C>T p.Q493* Nonsense 7/46 - 1
16-2166965-C-T c.1475G>A p.C492Y Missense 7/46 - 1
16-2167013-A-G c.1427T>C p.V476A Missense 7/46 - 1
16-2167028-G-A c.1412C>T p.S471L Missense 7/46 - 1
16-2167053-T-TG c.1386_1387insC p.S463Qfs*56 SpliceAcceptorInsertion 7/46 - 1
16-2167052-C-CT c.1387dup p.S463Kfs*56 SpliceAcceptorInsertion 7/46 - 1
16-2167053-T-TA c.1386_1387insT p.S463* SpliceAcceptorInsertion 7/46 - 1
16-2167490-C-A c.1385G>T p.R462M Missense 6/46 - 1
16-2167491-T-TC c.1383_1384insG p.R462Efs*57 SpliceDonorInsertion 6/46 - 1
16-2167491-T-TA c.1383_1384insT p.R462* SpliceDonorInsertion 6/46 - 1
16-2167490-C-CT c.1384dup p.R462Kfs*57 SpliceDonorInsertion 6/46 - 1
16-2167491-T-TG c.1383dup p.R462Qfs*57 SpliceDonorInsertion 6/46 - 1
16-2167495-G-T c.1380C>A p.V460= Synonymous 6/46 - 1
16-2167495-G-C c.1380C>G p.V460= Synonymous 6/46 - 1
16-2167495-G-A c.1380C>T p.V460= Synonymous 6/46 - 1
16-2167496-A-G c.1379T>C p.V460A Missense 6/46 - 1
16-2167499-C-G c.1376G>C p.R459P Missense 6/46 - 1
16-2167514-C-G c.1361G>C p.R454P Missense 6/46 - 1
16-2167515-G-A c.1360C>T p.R454C Missense 6/46 - 1
16-2167517-T-C c.1358A>G p.Q453R Missense 6/46 - 1
16-2167524-C-T c.1351G>A p.A451T Missense 6/46 - 1
16-2167527-G-A c.1348C>T p.P450S Missense 6/46 - 2
16-2167544-A-G c.1331T>C p.L444P Missense 6/46 - 1
16-2167552-C-T c.1323G>A p.G441= Synonymous 6/46 - 1
16-2167572-G-A c.1303C>T p.Q435* Nonsense 6/46 - 1
16-2167578-G-A c.1297C>T p.Q433* Nonsense 6/46 - 1
16-2167580-G-A c.1295C>T p.A432V Missense 6/46 - 2
16-2167583-CTGCAGCCAG-C c.1284_1292del p.W429_Q431del InFrameDeletion 6/46 - 1
16-2167584-G-A c.1291C>T p.Q431* Nonsense 6/46 - 1
16-2167589-C-G c.1286G>C p.W429S Missense 6/46 - 1
16-2167591-GGCC-G c.1281_1283del p.A428del InFrameDeletion 6/46 - 1
16-2167602-C-G c.1273G>C p.E425Q Missense 6/46 - 1
16-2167616-T-G c.1259A>C p.Y420S Missense 6/46 - 1
16-2167619-C-A c.1256G>T p.C419F Missense 6/46 - 1
16-2167632-CCAGG-C c.1240_1243del p.P414Afs*50 Frameshift 6/46 - 1
16-2167659-A-G c.1216T>C p.C406R Missense 6/46 - 1
16-2167664-G-C c.1211C>G p.P404R Missense 6/46 - 2
16-2167664-GG-CA c.1210_1211delinsTG p.P404W Missense 6/46 - 1
16-2167666-G-A c.1209C>T p.H403= Synonymous 6/46 - 1
16-2167672-C-T c.1203G>A p.A401= Synonymous 6/46 - 2
16-2167795-G-A c.1198C>T p.R400* Nonsense 5/46 - 2
16-2167812-A-AG c.1180dup p.L394Pfs*125 Frameshift 5/46 - 1
16-2167852-C-T c.1141G>A p.G381S Missense 5/46 - 1
16-2167855-G-A c.1138C>T p.R380C Missense 5/46 - 2
16-2167866-CT-GC c.1126_1127delinsGC p.S376A Missense 5/46 - 1
16-2167874-G-A c.1119C>T p.L373= Synonymous 5/46 - 2
16-2167874-G-C c.1119C>G p.L373= Synonymous 5/46 - 2
16-2167874-G-T c.1119C>A p.L373= Synonymous 5/46 - 1
16-2167876-G-A c.1117C>T p.L373F Missense 5/46 - 1
16-2167878-C-T c.1115G>A p.S372N Missense 5/46 - 1
16-2167963-C-T c.1030G>A p.A344T Missense 5/46 - 1
16-2167969-C-T c.1024G>A p.G342S Missense 5/46 - 1
16-2167970-G-A c.1023C>T p.A341= Synonymous 5/46 - 2
16-2167987-CG-C c.1005del p.V336Cfs*129 Frameshift 5/46 - 1
16-2168018-A-C c.975T>G p.Y325* Nonsense 5/46 - 1
16-2168019-T-C c.974A>G p.Y325C Missense 5/46 - 1
16-2168022-C-A c.971G>T p.R324L Missense 5/46 - 2
16-2168022-C-T c.971G>A p.R324H Missense 5/46 - 2
16-2168029-A-G c.964T>C p.S322P Missense 5/46 - 1
16-2168056-C-A c.937G>T p.E313* Nonsense 5/46 - 1
16-2168053-CCTCGGCGGAGCCGT-C c.926_939del p.D309Gfs*57 Frameshift 5/46 - 1
16-2168059-C-T c.934G>A p.A312T Missense 5/46 - 1
16-2168076-T-C c.917A>G p.D306G Missense 5/46 - 1
16-2168081-GCG-TCA c.910_912delinsTGA p.R304* Nonsense 5/46 - 1
16-2168091-GT-AC c.901_902inv p.T301V Missense 5/46 - 1
16-2168103-G-C c.890C>G p.P297R Missense 5/46 - 1
16-2168111-G-C c.882C>G p.I294M Missense 5/46 - 1
16-2168131-G-A c.862C>T p.Q288* Nonsense 5/46 - 2
16-2168134-C-CTA c.858_859insTA p.G287* Nonsense 5/46 - 1
16-2168139-G-C c.854C>G p.A285G Missense 5/46 - 1
16-2168139-G-A c.854C>T p.A285V Missense 5/46 - 1
16-2168130-TGGCCAGA-T c.856_862del p.G287* Frameshift 5/46 - 4
16-2168166-G-A c.827C>T p.T276I Missense 5/46 - 2
16-2168181-G-T c.812C>A p.A271D Missense 5/46 - 1
16-2168197-G-A c.796C>T p.Q266* Nonsense 5/46 - 2
16-2168205-G-A c.788C>T p.T263I Missense 5/46 - 1
16-2168217-C-T c.776G>A p.C259Y Missense 5/46 - 3
16-2168217-CAGGTGGGGGCAGG-C c.763_775del p.P255Vfs*31 Frameshift 5/46 - 1
16-2168235-G-C c.758C>G p.P253R Missense 5/46 - 1
16-2168237-GC-G c.756del p.P253Hfs*37 Frameshift 5/46 - 1
16-2168241-G-A c.752C>T p.P251L Missense 5/46 - 1
16-2168256-GGA-G c.736_737del p.S246Pfs*14 Frameshift 5/46 - 1
16-2168287-G-A c.706C>T p.Q236* Nonsense 5/46 - 1
16-2168288-GGGCCGCCC-G c.698_705del p.G233Afs*25 Frameshift 5/46 - 1
16-2168304-C-T c.689G>A p.C230Y Missense 5/46 - 1
16-2168304-C-G c.689G>C p.C230S Missense 5/46 - 1
16-2168307-C-T c.686G>A p.W229* Nonsense 5/46 - 1
16-2168314-G-A c.679C>T p.Q227* Nonsense 5/46 - 1
16-2168319-G-T c.674C>A p.S225* Nonsense 5/46 - 1
16-2168319-G-A c.674C>T p.S225L Missense 5/46 - 1
16-2168331-A-C c.662T>G p.L221R Missense 5/46 - 1
16-2168342-G-T c.651C>A p.T217= Synonymous 5/46 - 1
16-2168342-G-A c.651C>T p.T217= Synonymous 5/46 - 1
16-2168342-G-C c.651C>G p.T217= Synonymous 5/46 - 1
16-2168341-CG-C c.651del p.G218Afs*72 Frameshift 5/46 - 1
16-2168349-A-AAAGC c.643_644insGCTT p.F215Cfs*47 Frameshift 5/46 - 2
16-2168348-G-GA c.644dup p.S216Lfs*45 Frameshift 5/46 - 1
16-2168364-C-T c.629G>A p.C210Y Missense 5/46 - 1
16-2168365-A-C c.628T>G p.C210G Missense 5/46 - 1
16-2168386-C-T c.607G>A p.G203S Missense 5/46 - 1
16-2168427-G-C c.566C>G p.S189* Nonsense 5/46 - 1
16-2168428-A-C c.565T>G p.S189A Missense 5/46 - 1
16-2168677-C-G c.529G>C p.G177R Missense 4/46 - 1
16-2168685-CT-GC c.520_521delinsGC p.S174A Missense 4/46 - 1
16-2168718-CCAGCCAGGGAGCCAGGCCCAG-C c.467_487del p.A156_A162del InFrameDeletion 4/46 - 1
16-2168721-AG-A c.485del p.A162Vfs*128 Frameshift 4/46 - 1
16-2168722-C-T c.484G>A p.A162T Missense 4/46 - 1
16-2168742-C-T c.464G>A p.C155Y Missense 4/46 - 1
16-2168746-TGGCTGCCTCG-T c.450_459del p.E151Rfs*136 Frameshift 4/46 - 1
16-2168761-G-A c.445C>T p.Q149* Nonsense 4/46 - 1
16-2168766-AC-A c.439del p.V147Wfs*143 Frameshift 4/46 - 1
16-2168770-G-C c.436C>G p.R146G Missense 4/46 - 1
16-2168789-C-A c.417G>T p.W139C Missense 4/46 - 1
16-2168789-C-G c.417G>C p.W139C Missense 4/46 - 1
16-2168787-GC-G c.418del p.A140Rfs*150 Frameshift 4/46 - 1
16-2168794-G-A c.412C>T p.R138* Nonsense 4/46 - 3
16-2168812-C-T c.394G>A p.G132S Missense 4/46 - 1
16-2168811-CCA-C c.393_394del p.C131Wfs*47 Frameshift 4/46 - 1
16-2168829-G-T c.377C>A p.P126Q Missense 4/46 - 1
16-2168829-G-A c.377C>T p.P126L Missense 4/46 - 1
16-2168833-T-C c.373A>G p.N125D Missense 4/46 - 1
16-2168834-CCC-GAT c.370_372delinsATC p.G124I Missense 4/46 - 1
16-2168838-C-G c.368G>C p.S123T Missense 4/46 - 1
16-2168844-T-A c.362A>T p.N121I Missense 4/46 - 2
16-2169075-TGGGGTCCAGCCAGGACCCCACCCAAAGAACCACAACTTACATTTCAC-T c.353_359+40del - SpliceDonorDeletion 3/46 3/45 1
16-2169116-T-TC c.357_358insG p.I120Dfs*9 SpliceDonorInsertion 3/46 - 1
16-2169116-T-TG c.357_358insC p.I120Hfs*9 SpliceDonorInsertion 3/46 - 1
16-2169116-T-TA c.357_358insT p.I120Yfs*9 SpliceDonorInsertion 3/46 - 1
16-2169117-T-C c.357A>G p.E119= Synonymous 3/46 - 1
16-2169115-A-AT c.358dup p.I120Nfs*9 SpliceDonorInsertion 3/46 - 1
16-2169121-CT-GC c.352_353delinsGC p.S118A Missense 3/46 - 1
16-2169121-CTTAAA-C c.348_352del p.N116Kfs*2 Frameshift 3/46 - 3
16-2169128-T-TA c.345dup p.N116* Nonsense 3/46 - 1
16-2169147-T-A c.327A>T p.G109= Synonymous 3/46 - 1
16-2169148-CCTT-C c.323_325del p.E108del InFrameDeletion 3/46 - 1
16-2169157-AA-GG c.316_317delinsCC p.L106P Missense 3/46 - 1
16-2169171-G-C c.303C>G p.N101K Missense 3/46 - 1
16-2169171-G-T c.303C>A p.N101K Missense 3/46 - 1
16-2169173-T-C c.301A>G p.N101D Missense 3/46 - 1
16-2169168-CTTG-C c.303_305del p.N101del InFrameDeletion 3/46 - 1
16-2169178-C-A c.296G>T p.S99I Missense 3/46 - 3
16-2169185-C-T c.289G>A p.D97N Missense 3/46 - 1
16-2169185-CCCTGGAAGAGACGGGGGATTCGGCAAAGCTGATGGAAGCCCCCACAGCTGAGCAGCAA-GG c.288-57_289delinsCC - Multi:SpliceDonorBlockSubstitution,SpliceAcceptorBlockSubstitution 3/46 2/45 1
16-2169323-G-A c.272C>T p.S91L Missense 2/46 - 2
16-2169347-TC-CA c.247_248delinsTG p.D83C Missense 2/46 - 1
16-2169352-CGC-AAA c.241_243delinsTTT p.A81F Missense 2/46 - 1
16-2169371-G-A c.224C>T p.S75F Missense 2/46 - 2
16-2169375-C-G c.220G>C p.V74L Missense 2/46 - 1
16-2175373-T-C c.216-5994A>G - IntronicSNV - 1/45 1
16-2185477-G-GT c.213_214insA p.L72Tfs*42 SpliceDonorInsertion 1/46 - 2
16-2185477-G-GA c.213_214insT p.L72Sfs*42 SpliceDonorInsertion 1/46 - 2
16-2185476-A-AG c.214dup p.L72Pfs*42 SpliceDonorInsertion 1/46 - 2
16-2185477-G-GC c.213dup p.L72Afs*42 SpliceDonorInsertion 1/46 - 2
16-2185484-G-T c.207C>A p.A69= Synonymous 1/46 - 1
16-2185484-G-C c.207C>G p.A69= Synonymous 1/46 - 1
16-2185484-G-A c.207C>T p.A69= Synonymous 1/46 - 1
16-2185495-G-T c.196C>A p.P66T Missense 1/46 - 1
16-2185497-A-G c.194T>C p.I65T Missense 1/46 - 1
16-2185497-A-T c.194T>A p.I65N Missense 1/46 - 1
16-2185509-G-A c.182C>T p.P61L Missense 1/46 - 4
16-2185517-CGTCCGCA-C c.167_173del p.L56Rfs*15 Frameshift 1/46 - 1
16-2185521-C-A c.170G>T p.R57L Missense 1/46 - 1
16-2185529-GCG-CCA c.160_162delinsTGG p.R54W Missense 1/46 - 1
16-2185531-G-A c.160C>T p.R54C Missense 1/46 - 1
16-2185538-G-GC c.152dup p.C51Wfs*63 Frameshift 1/46 - 1
16-2185547-GCG-CTT c.142_144delinsAAG p.R48K Missense 1/46 - 1
16-2185575-C-T c.116G>A p.C39Y Missense 1/46 - 3
16-2185577-G-A c.114C>T p.L38= Synonymous 1/46 - 1
16-2185584-G-GA c.106_107insT p.P36Lfs*78 Frameshift 1/46 - 1
16-2185584-G-T c.107C>A p.P36H Missense 1/46 - 3
16-2185582-A-AG c.108dup p.C37Lfs*77 Frameshift 1/46 - 2
16-2185593-CA-GC c.97_98delinsGC p.C33A Missense 1/46 - 1
16-2185601-G-T c.90C>A p.C30* Nonsense 1/46 - 1
16-2185608-C-G c.83G>C p.R28P Missense 1/46 - 2
16-2185609-G-A c.82C>T p.R28C Missense 1/46 - 1
16-2185616-G-GC c.74dup p.G27Rfs*87 Frameshift 1/46 - 1
16-2185628-CGC-AAA c.61_63delinsTTT p.A21F Missense 1/46 - 1
16-2185653-AG-GC c.37_38delinsGC p.L13A Missense 1/46 - 1
16-2185653-A-T c.38T>A p.L13Q Missense 1/46 - 1
16-2185688-C-T c.3G>A p.M1? Missense 1/46 - 1
16-2185688-GC-G c.3del p.M1? CdsStartDeletion 1/46 - 1
16-2185689-A-AT c.1dup p.M1Nfs*? CdsStartInsertion 1/46 - 1