FLG

FLG filaggrin

Annotation transcript: NM_002016.2

8592 unique variant annotations were identified in 1505 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
1-152275186-T-C c.12176A>G p.Y4059C Missense 3/3 - 1
1-152275186-T-G c.12176A>C p.Y4059S Missense 3/3 - 1
1-152275191-G-A c.12171C>T p.Y4057= Synonymous 3/3 - 1
1-152275191-G-T c.12171C>A p.Y4057* Nonsense 3/3 - 1
1-152275195-C-T c.12167G>A p.R4056K Missense 3/3 - 6
1-152275199-G-C c.12163C>G p.Q4055E Missense 3/3 - 1
1-152275201-G-T c.12161C>A p.S4054* Nonsense 3/3 - 1
1-152275202-A-G c.12160T>C p.S4054P Missense 3/3 - 2
1-152275199-GTGAC-G c.12159_12162del p.Q4053Hfs*20 Frameshift 3/3 - 1
1-152275210-A-C c.12152T>G p.F4051C Missense 3/3 - 2
1-152275214-C-A c.12148G>T p.G4050* Nonsense 3/3 - 2
1-152275214-C-G c.12148G>C p.G4050R Missense 3/3 - 1
1-152275214-C-T c.12148G>A p.G4050R Missense 3/3 - 1
1-152275215-C-A c.12147G>T p.L4049= Synonymous 3/3 - 2
1-152275215-C-G c.12147G>C p.L4049= Synonymous 3/3 - 1
1-152275215-C-T c.12147G>A p.L4049= Synonymous 3/3 - 1
1-152275217-G-A c.12145C>T p.L4049= Synonymous 3/3 - 1
1-152275224-C-A c.12138G>T p.S4046= Synonymous 3/3 - 1
1-152275224-C-G c.12138G>C p.S4046= Synonymous 3/3 - 1
1-152275224-C-T c.12138G>A p.S4046= Synonymous 3/3 - 7
1-152275225-G-A c.12137C>T p.S4046L Missense 3/3 - 9
1-152275228-A-T c.12134T>A p.I4045K Missense 3/3 - 3
1-152275234-C-T c.12128G>A p.S4043N Missense 3/3 - 4
1-152275241-G-T c.12121C>A p.H4041N Missense 3/3 - 2
1-152275244-C-T c.12118G>A p.G4040S Missense 3/3 - 1
1-152275245-A-T c.12117T>A p.C4039* Nonsense 3/3 - 2
1-152275246-CA-GT c.12115_12116delinsAC p.C4039T Missense 3/3 - 1
1-152275246-C-T c.12116G>A p.C4039Y Missense 3/3 - 1
1-152275248-T-A c.12114A>T p.L4038F Missense 3/3 - 2
1-152275252-C-A c.12110G>T p.G4037V Missense 3/3 - 2
1-152275253-C-A c.12109G>T p.G4037C Missense 3/3 - 1
1-152275256-G-C c.12106C>G p.P4036A Missense 3/3 - 1
1-152275259-C-G c.12103G>C p.D4035H Missense 3/3 - 2
1-152275260-CTTATTAATATACGTTGCATAATACCT-C c.12076_12101del p.R4026Gfs*9 Frameshift 3/3 - 2
1-152275263-A-T c.12099T>A p.N4033K Missense 3/3 - 1
1-152275264-T-C c.12098A>G p.N4033S Missense 3/3 - 3
1-152275266-A-T c.12096T>A p.I4032= Synonymous 3/3 - 1
1-152275269-A-G c.12093T>C p.Y4031= Synonymous 3/3 - 4
1-152275271-A-T c.12091T>A p.Y4031N Missense 3/3 - 1
1-152275272-C-A c.12090G>T p.T4030= Synonymous 3/3 - 2
1-152275272-C-G c.12090G>C p.T4030= Synonymous 3/3 - 1
1-152275272-C-T c.12090G>A p.T4030= Synonymous 3/3 - 4
1-152275273-G-A c.12089C>T p.T4030M Missense 3/3 - 1
1-152275276-G-A c.12086C>T p.A4029V Missense 3/3 - 1
1-152275278-A-G c.12084T>C p.Y4028= Synonymous 3/3 - 1
1-152275286-T-TA c.12075_12076insT p.R4026* Nonsense 3/3 - 2
1-152275290-A-T c.12072T>A p.H4024Q Missense 3/3 - 2
1-152275292-G-A c.12070C>T p.H4024Y Missense 3/3 - 1
1-152275292-G-T c.12070C>A p.H4024N Missense 3/3 - 1
1-152275293-A-G c.12069T>C p.D4023= Synonymous 3/3 - 3
1-152275298-T-A c.12064A>T p.K4022* Nonsense 3/3 - 29
1-152275301-C-T c.12061G>A p.G4021S Missense 3/3 - 1
1-152275304-A-G c.12058T>C p.F4020L Missense 3/3 - 1
1-152275305-C-A c.12057G>T p.A4019= Synonymous 3/3 - 3
1-152275305-C-G c.12057G>C p.A4019= Synonymous 3/3 - 3
1-152275305-C-T c.12057G>A p.A4019= Synonymous 3/3 - 6
1-152275306-G-A c.12056C>T p.A4019V Missense 3/3 - 2
1-152275308-A-T c.12054T>A p.S4018R Missense 3/3 - 1
1-152275314-T-C c.12048A>G p.K4016= Synonymous 3/3 - 1
1-152275317-A-T c.12045T>A p.C4015* Nonsense 3/3 - 1
1-152275318-C-A c.12044G>T p.C4015F Missense 3/3 - 2
1-152275320-G-A c.12042C>T p.I4014= Synonymous 3/3 - 1
1-152275325-C-T c.12037G>A p.D4013N Missense 3/3 - 3
1-152275327-G-T c.12035C>A p.S4012Y Missense 3/3 - 3
1-152275334-C-A c.12028G>T p.E4010* Nonsense 3/3 - 1
1-152275334-C-T c.12028G>A p.E4010K Missense 3/3 - 3
1-152275337-T-C c.12025A>G p.K4009E Missense 3/3 - 1
1-152275339-A-G c.12023T>C p.F4008S Missense 3/3 - 1
1-152275343-C-G c.12019G>C p.V4007L Missense 3/3 - 2
1-152275343-C-T c.12019G>A p.V4007I Missense 3/3 - 1
1-152275344-A-C c.12018T>G p.V4006= Synonymous 3/3 - 1
1-152275344-A-G c.12018T>C p.V4006= Synonymous 3/3 - 4
1-152275344-A-T c.12018T>A p.V4006= Synonymous 3/3 - 1
1-152275346-CAGGATTGGAATTGTAACTAACACTT-A c.11991_12016delinsT p.S3998Lfs*68 Frameshift 3/3 - 1
1-152275346-C-G c.12016G>C p.V4006L Missense 3/3 - 2
1-152275349-G-A c.12013C>T p.P4005S Missense 3/3 - 1
1-152275354-G-A c.12008C>T p.S4003F Missense 3/3 - 1
1-152275357-T-A c.12005A>T p.N4002I Missense 3/3 - 2
1-152275357-T-C c.12005A>G p.N4002S Missense 3/3 - 1
1-152275359-G-A c.12003C>T p.Y4001= Synonymous 3/3 - 1
1-152275364-T-A c.11998A>T p.S4000C Missense 3/3 - 1
1-152275364-T-C c.11998A>G p.S4000G Missense 3/3 - 1
1-152275366-A-C c.11996T>G p.V3999G Missense 3/3 - 1
1-152275368-A-C c.11994T>G p.S3998R Missense 3/3 - 1
1-152275368-A-T c.11994T>A p.S3998R Missense 3/3 - 1
1-152275370-T-G c.11992A>C p.S3998R Missense 3/3 - 1
1-152275372-C-T c.11990G>A p.G3997E Missense 3/3 - 9
1-152275373-C-A c.11989G>T p.G3997* Nonsense 3/3 - 2
1-152275373-C-G c.11989G>C p.G3997R Missense 3/3 - 2
1-152275373-C-T c.11989G>A p.G3997R Missense 3/3 - 8
1-152275374-G-A c.11988C>T p.H3996= Synonymous 3/3 - 4
1-152275374-G-T c.11988C>A p.H3996Q Missense 3/3 - 1
1-152275376-G-T c.11986C>A p.H3996N Missense 3/3 - 1
1-152275379-G-A c.11983C>T p.Q3995* Nonsense 3/3 - 1
1-152275379-G-C c.11983C>G p.Q3995E Missense 3/3 - 2
1-152275383-G-C c.11979C>G p.H3993Q Missense 3/3 - 2
1-152275383-G-T c.11979C>A p.H3993Q Missense 3/3 - 4
1-152275384-T-G c.11978A>C p.H3993P Missense 3/3 - 1
1-152275386-T-A c.11976A>T p.R3992S Missense 3/3 - 1
1-152275389-A-T c.11973T>A p.F3991L Missense 3/3 - 4
1-152275390-A-T c.11972T>A p.F3991Y Missense 3/3 - 3
1-152275389-A-C c.11973T>G p.F3991L Missense 3/3 - 1
1-152275391-A-G c.11971T>C p.F3991L Missense 3/3 - 1
1-152275394-C-A c.11968G>T p.G3990W Missense 3/3 - 2
1-152275394-C-G c.11968G>C p.G3990R Missense 3/3 - 4
1-152275394-C-T c.11968G>A p.G3990R Missense 3/3 - 6
1-152275398-T-A c.11964A>T p.E3988D Missense 3/3 - 1
1-152275398-T-G c.11964A>C p.E3988D Missense 3/3 - 1
1-152275403-C-T c.11959G>A p.G3987S Missense 3/3 - 2
1-152275407-A-T c.11955T>A p.D3985E Missense 3/3 - 1
1-152275409-C-G c.11953G>C p.D3985H Missense 3/3 - 6
1-152275409-C-T c.11953G>A p.D3985N Missense 3/3 - 8
1-152275410-A-G c.11952T>C p.Y3984= Synonymous 3/3 - 2
1-152275410-A-T c.11952T>A p.Y3984* Nonsense 3/3 - 1
1-152275415-C-A c.11947G>T p.D3983Y Missense 3/3 - 1
1-152275415-C-G c.11947G>C p.D3983H Missense 3/3 - 1
1-152275421-T-C c.11941A>G p.S3981G Missense 3/3 - 3
1-152275423-C-T c.11939G>A p.G3980D Missense 3/3 - 2
1-152275425-A-G c.11937T>C p.Y3979= Synonymous 3/3 - 2
1-152275426-T-C c.11936A>G p.Y3979C Missense 3/3 - 1
1-152275428-G-A c.11934C>T p.S3978= Synonymous 3/3 - 1
1-152275428-G-C c.11934C>G p.S3978R Missense 3/3 - 1
1-152275428-G-T c.11934C>A p.S3978R Missense 3/3 - 2
1-152275430-T-G c.11932A>C p.S3978R Missense 3/3 - 1
1-152275429-C-A c.11933G>T p.S3978I Missense 3/3 - 1
1-152275432-C-T c.11930G>A p.G3977D Missense 3/3 - 2
1-152275436-G-A c.11926C>T p.H3976Y Missense 3/3 - 1
1-152275453-G-A c.11909C>T p.S3970L Missense 3/3 - 5
1-152275456-T-C c.11906A>G p.Q3969R Missense 3/3 - 3
1-152275457-G-A c.11905C>T p.Q3969* Nonsense 3/3 - 2
1-152275457-G-T c.11905C>A p.Q3969K Missense 3/3 - 4
1-152275459-C-G c.11903G>C p.G3968A Missense 3/3 - 4
1-152275460-C-T c.11902G>A p.G3968S Missense 3/3 - 7
1-152275460-CT-C c.11901del p.G3968Vfs*5 Frameshift 3/3 - 1
1-152275466-G-A c.11896C>T p.Q3966* Nonsense 3/3 - 1
1-152275470-T-A c.11892A>T p.E3964D Missense 3/3 - 1
1-152275470-T-G c.11892A>C p.E3964D Missense 3/3 - 1
1-152275471-T-C c.11891A>G p.E3964G Missense 3/3 - 1
1-152275472-C-T c.11890G>A p.E3964K Missense 3/3 - 1
1-152275474-G-T c.11888C>A p.T3963N Missense 3/3 - 1
1-152275477-C-T c.11885G>A p.G3962D Missense 3/3 - 2
1-152275482-A-G c.11880T>C p.S3960= Synonymous 3/3 - 2
1-152275484-A-G c.11878T>C p.S3960P Missense 3/3 - 1
1-152275485-T-C c.11877A>G p.Q3959= Synonymous 3/3 - 1
1-152275487-G-A c.11875C>T p.Q3959* Nonsense 3/3 - 1
1-152275491-A-C c.11871T>G p.H3957Q Missense 3/3 - 2
1-152275491-A-T c.11871T>A p.H3957Q Missense 3/3 - 1
1-152275492-T-C c.11870A>G p.H3957R Missense 3/3 - 5
1-152275499-A-C c.11863T>G p.S3955A Missense 3/3 - 1
1-152275506-A-G c.11856T>C p.S3952= Synonymous 3/3 - 2
1-152275508-T-A c.11854A>T p.S3952C Missense 3/3 - 2
1-152275509-G-A c.11853C>T p.H3951= Synonymous 3/3 - 2
1-152275510-T-C c.11852A>G p.H3951R Missense 3/3 - 2
1-152275511-G-C c.11851C>G p.H3951D Missense 3/3 - 4
1-152275515-A-C c.11847T>G p.S3949R Missense 3/3 - 1
1-152275515-A-T c.11847T>A p.S3949R Missense 3/3 - 1
1-152275517-T-G c.11845A>C p.S3949R Missense 3/3 - 1
1-152275517-T-C c.11845A>G p.S3949G Missense 3/3 - 1
1-152275520-C-A c.11842G>T p.G3948C Missense 3/3 - 8
1-152275519-CCA-C c.11841_11842del p.G3948Qfs*6 Frameshift 3/3 - 1
1-152275522-C-A c.11840G>T p.R3947L Missense 3/3 - 2
1-152275522-C-T c.11840G>A p.R3947H Missense 3/3 - 3
1-152275523-G-A c.11839C>T p.R3947C Missense 3/3 - 5
1-152275523-G-C c.11839C>G p.R3947G Missense 3/3 - 1
1-152275530-T-C c.11832A>G p.I3944M Missense 3/3 - 2
1-152275534-C-T c.11828G>A p.G3943E Missense 3/3 - 3
1-152275537-G-A c.11825C>T p.S3942L Missense 3/3 - 1
1-152275537-G-C c.11825C>G p.S3942* Nonsense 3/3 - 1
1-152275538-A-G c.11824T>C p.S3942P Missense 3/3 - 1
1-152275540-T-C c.11822A>G p.H3941R Missense 3/3 - 2
1-152275540-T-G c.11822A>C p.H3941P Missense 3/3 - 1
1-152275541-G-T c.11821C>A p.H3941N Missense 3/3 - 1
1-152275545-C-A c.11817G>T p.A3939= Synonymous 3/3 - 1
1-152275545-C-G c.11817G>C p.A3939= Synonymous 3/3 - 1
1-152275545-C-T c.11817G>A p.A3939= Synonymous 3/3 - 2
1-152275546-G-A c.11816C>T p.A3939V Missense 3/3 - 6
1-152275546-G-C c.11816C>G p.A3939G Missense 3/3 - 1
1-152275547-C-A c.11815G>T p.A3939S Missense 3/3 - 1
1-152275549-G-T c.11813C>A p.S3938Y Missense 3/3 - 3
1-152275555-T-A c.11807A>T p.Q3936L Missense 3/3 - 4
1-152275555-T-G c.11807A>C p.Q3936P Missense 3/3 - 1
1-152275556-G-C c.11806C>G p.Q3936E Missense 3/3 - 2
1-152275558-G-T c.11804C>A p.S3935* Nonsense 3/3 - 1
1-152275559-A-G c.11803T>C p.S3935P Missense 3/3 - 4
1-152275562-G-A c.11800C>T p.L3934F Missense 3/3 - 1
1-152275564-C-T c.11798G>A p.S3933N Missense 3/3 - 1
1-152275565-T-A c.11797A>T p.S3933C Missense 3/3 - 1
1-152275567-C-T c.11795G>A p.S3932N Missense 3/3 - 1
1-152275568-T-A c.11794A>T p.S3932C Missense 3/3 - 1
1-152275568-T-C c.11794A>G p.S3932G Missense 3/3 - 2
1-152275568-T-G c.11794A>C p.S3932R Missense 3/3 - 1
1-152275574-G-C c.11788C>G p.H3930D Missense 3/3 - 1
1-152275576-C-T c.11786G>A p.G3929D Missense 3/3 - 4
1-152275583-C-T c.11779G>A p.E3927K Missense 3/3 - 9
1-152275584-C-T c.11778G>A p.K3926= Synonymous 3/3 - 3
1-152275585-T-G c.11777A>C p.K3926T Missense 3/3 - 1
1-152275588-G-A c.11774C>T p.A3925V Missense 3/3 - 1
1-152275589-C-T c.11773G>A p.A3925T Missense 3/3 - 3
1-152275590-G-A c.11772C>T p.T3924= Synonymous 3/3 - 2
1-152275590-G-C c.11772C>G p.T3924= Synonymous 3/3 - 1
1-152275590-G-T c.11772C>A p.T3924= Synonymous 3/3 - 1
1-152275591-G-A c.11771C>T p.T3924I Missense 3/3 - 1
1-152275591-G-T c.11771C>A p.T3924N Missense 3/3 - 1
1-152275592-T-C c.11770A>G p.T3924A Missense 3/3 - 2
1-152275595-T-C c.11767A>G p.S3923G Missense 3/3 - 2
1-152275596-A-C c.11766T>G p.S3922= Synonymous 3/3 - 1
1-152275596-A-G c.11766T>C p.S3922= Synonymous 3/3 - 1
1-152275596-A-T c.11766T>A p.S3922= Synonymous 3/3 - 3
1-152275597-G-C c.11765C>G p.S3922C Missense 3/3 - 1
1-152275598-A-T c.11764T>A p.S3922T Missense 3/3 - 1
1-152275600-T-C c.11762A>G p.D3921G Missense 3/3 - 10
1-152275601-C-T c.11761G>A p.D3921N Missense 3/3 - 5
1-152275603-G-A c.11759C>T p.S3920L Missense 3/3 - 1
1-152275603-G-C c.11759C>G p.S3920* Nonsense 3/3 - 1
1-152275605-C-T c.11757G>A p.Q3919= Synonymous 3/3 - 2
1-152275610-C-T c.11752G>A p.V3918I Missense 3/3 - 1
1-152275613-G-A c.11749C>T p.P3917S Missense 3/3 - 1
1-152275613-G-C c.11749C>G p.P3917A Missense 3/3 - 1
1-152275613-G-T c.11749C>A p.P3917T Missense 3/3 - 1
1-152275616-A-G c.11746T>C p.S3916P Missense 3/3 - 1
1-152275617-A-C c.11745T>G p.S3915= Synonymous 3/3 - 1
1-152275617-A-G c.11745T>C p.S3915= Synonymous 3/3 - 3
1-152275617-A-T c.11745T>A p.S3915= Synonymous 3/3 - 1
1-152275618-G-C c.11744C>G p.S3915C Missense 3/3 - 2
1-152275618-G-T c.11744C>A p.S3915Y Missense 3/3 - 4
1-152275621-T-A c.11741A>T p.Q3914L Missense 3/3 - 1
1-152275621-T-G c.11741A>C p.Q3914P Missense 3/3 - 1
1-152275623-T-C c.11739A>G p.V3913= Synonymous 3/3 - 2
1-152275628-G-A c.11734C>T p.H3912Y Missense 3/3 - 2
1-152275628-G-C c.11734C>G p.H3912D Missense 3/3 - 1
1-152275629-A-C c.11733T>G p.S3911R Missense 3/3 - 1
1-152275629-A-T c.11733T>A p.S3911R Missense 3/3 - 1
1-152275631-T-G c.11731A>C p.S3911R Missense 3/3 - 1
1-152275630-C-T c.11732G>A p.S3911N Missense 3/3 - 1
1-152275631-T-C c.11731A>G p.S3911G Missense 3/3 - 1
1-152275632-G-A c.11730C>T p.A3910= Synonymous 3/3 - 1
1-152275633-G-A c.11729C>T p.A3910V Missense 3/3 - 1
1-152275633-G-T c.11729C>A p.A3910D Missense 3/3 - 1
1-152275637-T-C c.11725A>G p.T3909A Missense 3/3 - 1
1-152275640-C-T c.11722G>A p.D3908N Missense 3/3 - 9
1-152275641-G-A c.11721C>T p.R3907= Synonymous 3/3 - 5
1-152275641-G-C c.11721C>G p.R3907= Synonymous 3/3 - 4
1-152275641-G-T c.11721C>A p.R3907= Synonymous 3/3 - 4
1-152275642-C-T c.11720G>A p.R3907H Missense 3/3 - 6
1-152275643-G-A c.11719C>T p.R3907C Missense 3/3 - 1
1-152275650-G-A c.11712C>T p.S3904= Synonymous 3/3 - 2
1-152275650-G-C c.11712C>G p.S3904= Synonymous 3/3 - 1
1-152275650-G-T c.11712C>A p.S3904= Synonymous 3/3 - 1
1-152275651-G-A c.11711C>T p.S3904F Missense 3/3 - 6
1-152275654-C-A c.11708G>T p.G3903V Missense 3/3 - 1
1-152275655-C-T c.11707G>A p.G3903R Missense 3/3 - 1
1-152275656-G-A c.11706C>T p.P3902= Synonymous 3/3 - 5
1-152275656-G-C c.11706C>G p.P3902= Synonymous 3/3 - 2
1-152275656-G-T c.11706C>A p.P3902= Synonymous 3/3 - 2
1-152275657-G-A c.11705C>T p.P3902L Missense 3/3 - 2
1-152275657-G-T c.11705C>A p.P3902H Missense 3/3 - 5
1-152275658-G-A c.11704C>T p.P3902S Missense 3/3 - 1
1-152275666-G-C c.11696C>G p.S3899C Missense 3/3 - 5
1-152275668-G-A c.11694C>T p.G3898= Synonymous 3/3 - 1
1-152275670-C-T c.11692G>A p.G3898S Missense 3/3 - 2
1-152275678-G-A c.11684C>T p.S3895L Missense 3/3 - 1
1-152275680-C-T c.11682G>A p.Q3894= Synonymous 3/3 - 2
1-152275683-C-A c.11679G>T p.E3893D Missense 3/3 - 1
1-152275683-C-G c.11679G>C p.E3893D Missense 3/3 - 1
1-152275683-C-T c.11679G>A p.E3893= Synonymous 3/3 - 1
1-152275684-T-C c.11678A>G p.E3893G Missense 3/3 - 1
1-152275685-C-A c.11677G>T p.E3893* Nonsense 3/3 - 4
1-152275686-C-T c.11676G>A p.R3892= Synonymous 3/3 - 1
1-152275687-C-A c.11675G>T p.R3892L Missense 3/3 - 3
1-152275687-C-T c.11675G>A p.R3892Q Missense 3/3 - 8
1-152275688-G-A c.11674C>T p.R3892W Missense 3/3 - 7
1-152275690-G-A c.11672C>T p.S3891F Missense 3/3 - 7
1-152275691-A-C c.11671T>G p.S3891A Missense 3/3 - 1
1-152275693-G-C c.11669C>G p.S3890C Missense 3/3 - 1
1-152275695-T-A c.11667A>T p.G3889= Synonymous 3/3 - 1
1-152275695-T-C c.11667A>G p.G3889= Synonymous 3/3 - 1
1-152275695-T-G c.11667A>C p.G3889= Synonymous 3/3 - 1
1-152275696-C-T c.11666G>A p.G3889E Missense 3/3 - 2
1-152275698-A-T c.11664T>A p.H3888Q Missense 3/3 - 1
1-152275699-T-A c.11663A>T p.H3888L Missense 3/3 - 1
1-152275700-G-T c.11662C>A p.H3888N Missense 3/3 - 1
1-152275708-C-A c.11654G>T p.R3885I Missense 3/3 - 3
1-152275717-G-T c.11645C>A p.S3882Y Missense 3/3 - 3
1-152275719-C-T c.11643G>A p.E3881= Synonymous 3/3 - 3
1-152275721-C-G c.11641G>C p.E3881Q Missense 3/3 - 2
1-152275726-C-A c.11636G>T p.R3879L Missense 3/3 - 1
1-152275727-G-A c.11635C>T p.R3879* Nonsense 3/3 - 4
1-152275728-C-A c.11634G>T p.R3878S Missense 3/3 - 4
1-152275728-C-G c.11634G>C p.R3878S Missense 3/3 - 2
1-152275729-C-T c.11633G>A p.R3878K Missense 3/3 - 2
1-152275730-T-A c.11632A>T p.R3878W Missense 3/3 - 4
1-152275733-C-T c.11629G>A p.E3877K Missense 3/3 - 2
1-152275733-TCA-T c.11628_11629del p.R3878Afs*3 Frameshift 3/3 - 2
1-152275739-C-A c.11623G>T p.D3875Y Missense 3/3 - 3
1-152275743-T-A c.11619A>T p.P3873= Synonymous 3/3 - 1
1-152275743-T-C c.11619A>G p.P3873= Synonymous 3/3 - 1
1-152275743-T-G c.11619A>C p.P3873= Synonymous 3/3 - 1
1-152275748-A-G c.11614T>C p.Y3872H Missense 3/3 - 1
1-152275750-G-C c.11612C>G p.A3871G Missense 3/3 - 1
1-152275753-T-C c.11609A>G p.E3870G Missense 3/3 - 1
1-152275759-T-C c.11603A>G p.D3868G Missense 3/3 - 3
1-152275766-C-T c.11596G>A p.D3866N Missense 3/3 - 1
1-152275768-T-C c.11594A>G p.Q3865R Missense 3/3 - 1
1-152275769-G-T c.11593C>A p.Q3865K Missense 3/3 - 1
1-152275773-A-C c.11589T>G p.V3863= Synonymous 3/3 - 1
1-152275775-C-A c.11587G>T p.V3863F Missense 3/3 - 3
1-152275776-A-C c.11586T>G p.S3862R Missense 3/3 - 1
1-152275776-A-T c.11586T>A p.S3862R Missense 3/3 - 1
1-152275777-C-T c.11585G>A p.S3862N Missense 3/3 - 1
1-152275778-T-G c.11584A>C p.S3862R Missense 3/3 - 2
1-152275779-G-A c.11583C>T p.S3861= Synonymous 3/3 - 2
1-152275779-G-C c.11583C>G p.S3861= Synonymous 3/3 - 2
1-152275779-G-T c.11583C>A p.S3861= Synonymous 3/3 - 2
1-152275780-G-A c.11582C>T p.S3861F Missense 3/3 - 1
1-152275781-A-T c.11581T>A p.S3861T Missense 3/3 - 1
1-152275783-C-T c.11579G>A p.G3860E Missense 3/3 - 4
1-152275785-C-T c.11577G>A p.Q3859= Synonymous 3/3 - 4
1-152275786-T-A c.11576A>T p.Q3859L Missense 3/3 - 3
1-152275787-G-A c.11575C>T p.Q3859* Nonsense 3/3 - 1
1-152275788-G-A c.11574C>T p.R3858= Synonymous 3/3 - 1
1-152275788-G-C c.11574C>G p.R3858= Synonymous 3/3 - 1
1-152275788-G-T c.11574C>A p.R3858= Synonymous 3/3 - 1
1-152275789-C-T c.11573G>A p.R3858H Missense 3/3 - 3
1-152275790-G-A c.11572C>T p.R3858C Missense 3/3 - 4
1-152275796-T-C c.11566A>G p.S3856G Missense 3/3 - 1
1-152275796-T-G c.11566A>C p.S3856R Missense 3/3 - 2
1-152275798-C-T c.11564G>A p.R3855K Missense 3/3 - 1
1-152275800-C-T c.11562G>A p.R3854= Synonymous 3/3 - 4
1-152275802-T-G c.11560A>C p.R3854= Synonymous 3/3 - 1
1-152275807-C-T c.11555G>A p.G3852E Missense 3/3 - 2
1-152275808-C-T c.11554G>A p.G3852R Missense 3/3 - 2
1-152275809-C-A c.11553G>T p.A3851= Synonymous 3/3 - 2
1-152275809-C-T c.11553G>A p.A3851= Synonymous 3/3 - 2
1-152275810-G-A c.11552C>T p.A3851V Missense 3/3 - 1
1-152275811-C-G c.11551G>C p.A3851P Missense 3/3 - 1
1-152275812-T-A c.11550A>T p.S3850= Synonymous 3/3 - 1
1-152275812-T-C c.11550A>G p.S3850= Synonymous 3/3 - 2
1-152275812-T-G c.11550A>C p.S3850= Synonymous 3/3 - 1
1-152275813-G-A c.11549C>T p.S3850L Missense 3/3 - 6
1-152275817-C-G c.11545G>C p.E3849Q Missense 3/3 - 1
1-152275817-C-T c.11545G>A p.E3849K Missense 3/3 - 6
1-152275818-A-C c.11544T>G p.G3848= Synonymous 3/3 - 1
1-152275818-A-G c.11544T>C p.G3848= Synonymous 3/3 - 1
1-152275818-A-T c.11544T>A p.G3848= Synonymous 3/3 - 1
1-152275823-G-T c.11539C>A p.Q3847K Missense 3/3 - 1
1-152275825-C-T c.11537G>A p.G3846D Missense 3/3 - 1
1-152275826-C-A c.11536G>T p.G3846C Missense 3/3 - 1
1-152275826-C-T c.11536G>A p.G3846S Missense 3/3 - 7
1-152275827-G-A c.11535C>T p.S3845= Synonymous 3/3 - 5
1-152275827-G-C c.11535C>G p.S3845= Synonymous 3/3 - 3
1-152275827-G-T c.11535C>A p.S3845= Synonymous 3/3 - 3
1-152275830-C-T c.11532G>A p.Q3844= Synonymous 3/3 - 1
1-152275832-G-A c.11530C>T p.Q3844* Nonsense 3/3 - 1
1-152275832-G-C c.11530C>G p.Q3844E Missense 3/3 - 2
1-152275838-G-A c.11524C>T p.H3842Y Missense 3/3 - 1
1-152275838-G-T c.11524C>A p.H3842N Missense 3/3 - 1
1-152275839-T-C c.11523A>G p.R3841= Synonymous 3/3 - 1
1-152275841-T-G c.11521A>C p.R3841= Synonymous 3/3 - 1
1-152275858-G-T c.11504C>A p.T3835N Missense 3/3 - 1
1-152275861-G-A c.11501C>T p.S3834F Missense 3/3 - 1
1-152275865-C-T c.11497G>A p.A3833T Missense 3/3 - 1
1-152275868-C-T c.11494G>A p.E3832K Missense 3/3 - 2
1-152275869-A-C c.11493T>G p.H3831Q Missense 3/3 - 3
1-152275869-A-T c.11493T>A p.H3831Q Missense 3/3 - 4
1-152275873-T-A c.11489A>T p.H3830L Missense 3/3 - 1
1-152275873-T-C c.11489A>G p.H3830R Missense 3/3 - 2
1-152275874-G-C c.11488C>G p.H3830D Missense 3/3 - 1
1-152275875-A-C c.11487T>G p.R3829= Synonymous 3/3 - 1
1-152275875-A-G c.11487T>C p.R3829= Synonymous 3/3 - 1
1-152275876-C-T c.11486G>A p.R3829H Missense 3/3 - 12
1-152275877-G-A c.11485C>T p.R3829C Missense 3/3 - 2
1-152275878-C-A c.11484G>T p.S3828= Synonymous 3/3 - 3
1-152275878-C-G c.11484G>C p.S3828= Synonymous 3/3 - 3
1-152275878-C-T c.11484G>A p.S3828= Synonymous 3/3 - 4
1-152275879-G-A c.11483C>T p.S3828L Missense 3/3 - 7
1-152275880-A-G c.11482T>C p.S3828P Missense 3/3 - 2
1-152275883-C-A c.11479G>T p.G3827W Missense 3/3 - 6
1-152275885-G-A c.11477C>T p.S3826L Missense 3/3 - 1
1-152275888-T-C c.11474A>G p.H3825R Missense 3/3 - 2
1-152275889-G-T c.11473C>A p.H3825N Missense 3/3 - 3
1-152275891-C-T c.11471G>A p.R3824K Missense 3/3 - 1
1-152275893-G-A c.11469C>T p.S3823= Synonymous 3/3 - 3
1-152275893-G-C c.11469C>G p.S3823= Synonymous 3/3 - 1
1-152275893-G-T c.11469C>A p.S3823= Synonymous 3/3 - 1
1-152275898-C-T c.11464G>A p.G3822S Missense 3/3 - 3
1-152275899-G-A c.11463C>T p.D3821= Synonymous 3/3 - 4
1-152275899-G-C c.11463C>G p.D3821E Missense 3/3 - 1
1-152275900-T-A c.11462A>T p.D3821V Missense 3/3 - 3
1-152275906-G-C c.11456C>G p.S3819* Nonsense 3/3 - 1
1-152275908-C-T c.11454G>A p.Q3818= Synonymous 3/3 - 2
1-152275910-G-A c.11452C>T p.Q3818* Nonsense 3/3 - 4
1-152275912-T-C c.11450A>G p.E3817G Missense 3/3 - 1
1-152275914-C-T c.11448G>A p.E3816= Synonymous 3/3 - 1
1-152275916-C-G c.11446G>C p.E3816Q Missense 3/3 - 1
1-152275916-C-T c.11446G>A p.E3816K Missense 3/3 - 2
1-152275919-T-A c.11443A>T p.N3815Y Missense 3/3 - 2
1-152275921-C-T c.11441G>A p.R3814H Missense 3/3 - 5
1-152275922-G-A c.11440C>T p.R3814C Missense 3/3 - 5
1-152275923-T-C c.11439A>G p.T3813= Synonymous 3/3 - 1
1-152275925-T-C c.11437A>G p.T3813A Missense 3/3 - 3
1-152275927-T-G c.11435A>C p.E3812A Missense 3/3 - 1
1-152275930-C-T c.11432G>A p.R3811K Missense 3/3 - 2
1-152275932-G-A c.11430C>T p.S3810= Synonymous 3/3 - 2
1-152275935-T-A c.11427A>T p.A3809= Synonymous 3/3 - 5
1-152275935-T-C c.11427A>G p.A3809= Synonymous 3/3 - 4
1-152275935-T-G c.11427A>C p.A3809= Synonymous 3/3 - 4
1-152275937-C-T c.11425G>A p.A3809T Missense 3/3 - 2
1-152275945-G-A c.11417C>T p.S3806F Missense 3/3 - 1
1-152275947-T-C c.11415A>G p.G3805= Synonymous 3/3 - 1
1-152275947-TC-GT c.11414_11415delinsAC p.G3805D Missense 3/3 - 1
1-152275948-C-T c.11414G>A p.G3805E Missense 3/3 - 6
1-152275953-C-G c.11409G>C p.Q3803H Missense 3/3 - 1
1-152275956-C-T c.11406G>A p.G3802= Synonymous 3/3 - 1
1-152275958-C-G c.11404G>C p.G3802R Missense 3/3 - 1
1-152275958-C-T c.11404G>A p.G3802R Missense 3/3 - 3
1-152275960-T-C c.11402A>G p.H3801R Missense 3/3 - 6
1-152275963-G-A c.11399C>T p.S3800F Missense 3/3 - 1
1-152275965-G-A c.11397C>T p.A3799= Synonymous 3/3 - 1
1-152275965-G-C c.11397C>G p.A3799= Synonymous 3/3 - 1
1-152275965-G-T c.11397C>A p.A3799= Synonymous 3/3 - 3
1-152275966-G-A c.11396C>T p.A3799V Missense 3/3 - 1
1-152275974-C-T c.11388G>A p.R3796= Synonymous 3/3 - 2
1-152275978-C-T c.11384G>A p.G3795E Missense 3/3 - 3
1-152275979-C-A c.11383G>T p.G3795* Nonsense 3/3 - 1
1-152275979-C-G c.11383G>C p.G3795R Missense 3/3 - 2
1-152275979-C-T c.11383G>A p.G3795R Missense 3/3 - 4
1-152275980-C-G c.11382G>C p.Q3794H Missense 3/3 - 1
1-152275982-G-A c.11380C>T p.Q3794* Nonsense 3/3 - 3
1-152275982-G-T c.11380C>A p.Q3794K Missense 3/3 - 2
1-152275983-G-A c.11379C>T p.S3793= Synonymous 3/3 - 1
1-152275983-G-C c.11379C>G p.S3793= Synonymous 3/3 - 1
1-152275983-G-T c.11379C>A p.S3793= Synonymous 3/3 - 1
1-152275984-G-A c.11378C>T p.S3793F Missense 3/3 - 2
1-152275984-G-T c.11378C>A p.S3793Y Missense 3/3 - 1
1-152275989-G-A c.11373C>T p.T3791= Synonymous 3/3 - 1
1-152275989-G-C c.11373C>G p.T3791= Synonymous 3/3 - 1
1-152275989-G-T c.11373C>A p.T3791= Synonymous 3/3 - 1
1-152275998-G-C c.11364C>G p.H3788Q Missense 3/3 - 2
1-152275998-G-T c.11364C>A p.H3788Q Missense 3/3 - 3
1-152276000-G-A c.11362C>T p.H3788Y Missense 3/3 - 1
1-152276002-T-C c.11360A>G p.H3787R Missense 3/3 - 1
1-152276005-G-T c.11357C>A p.S3786Y Missense 3/3 - 1
1-152276008-C-T c.11354G>A p.G3785E Missense 3/3 - 1
1-152276010-T-A c.11352A>T p.S3784= Synonymous 3/3 - 1
1-152276010-T-C c.11352A>G p.S3784= Synonymous 3/3 - 1
1-152276010-T-G c.11352A>C p.S3784= Synonymous 3/3 - 1
1-152276012-A-G c.11350T>C p.S3784P Missense 3/3 - 1
1-152276015-G-A c.11347C>T p.H3783Y Missense 3/3 - 6
1-152276018-C-T c.11344G>A p.G3782R Missense 3/3 - 2
1-152276019-A-C c.11343T>G p.S3781= Synonymous 3/3 - 1
1-152276019-A-G c.11343T>C p.S3781= Synonymous 3/3 - 1
1-152276019-A-T c.11343T>A p.S3781= Synonymous 3/3 - 1
1-152276020-GA-AT c.11341_11342delinsAT p.S3781I Missense 3/3 - 1
1-152276020-G-T c.11342C>A p.S3781Y Missense 3/3 - 7
1-152276021-A-G c.11341T>C p.S3781P Missense 3/3 - 1
1-152276023-C-A c.11339G>T p.R3780M Missense 3/3 - 1
1-152276023-C-G c.11339G>C p.R3780T Missense 3/3 - 2
1-152276027-C-G c.11335G>C p.D3779H Missense 3/3 - 2
1-152276031-C-A c.11331G>T p.S3777= Synonymous 3/3 - 1
1-152276031-C-CACGAGCAATCGGTA c.11330_11331insTACCGATTGCTCGT p.V3778Tfs*6 Frameshift 3/3 - 1
1-152276031-C-G c.11331G>C p.S3777= Synonymous 3/3 - 1
1-152276031-C-T c.11331G>A p.S3777= Synonymous 3/3 - 2
1-152276032-G-A c.11330C>T p.S3777L Missense 3/3 - 3
1-152276037-C-T c.11325G>A p.E3775= Synonymous 3/3 - 1
1-152276039-C-A c.11323G>T p.E3775* Nonsense 3/3 - 2
1-152276039-C-T c.11323G>A p.E3775K Missense 3/3 - 5
1-152276040-G-A c.11322C>T p.H3774= Synonymous 3/3 - 1
1-152276045-A-G c.11317T>C p.Y3773H Missense 3/3 - 3
1-152276046-G-A c.11316C>T p.S3772= Synonymous 3/3 - 1
1-152276049-T-A c.11313A>T p.G3771= Synonymous 3/3 - 1
1-152276049-T-C c.11313A>G p.G3771= Synonymous 3/3 - 1
1-152276049-T-G c.11313A>C p.G3771= Synonymous 3/3 - 1
1-152276050-C-A c.11312G>T p.G3771V Missense 3/3 - 2
1-152276059-C-T c.11303G>A p.G3768E Missense 3/3 - 10
1-152276063-C-A c.11299G>T p.G3767* Nonsense 3/3 - 1
1-152276065-C-G c.11297G>C p.R3766T Missense 3/3 - 1
1-152276067-C-A c.11295G>T p.R3765S Missense 3/3 - 4
1-152276067-C-G c.11295G>C p.R3765S Missense 3/3 - 4
1-152276068-C-T c.11294G>A p.R3765K Missense 3/3 - 1
1-152276069-T-C c.11293A>G p.R3765G Missense 3/3 - 1
1-152276071-G-A c.11291C>T p.S3764L Missense 3/3 - 1
1-152276071-G-C c.11291C>G p.S3764* Nonsense 3/3 - 1
1-152276071-G-T c.11291C>A p.S3764* Nonsense 3/3 - 1
1-152276072-A-C c.11290T>G p.S3764A Missense 3/3 - 1
1-152276072-A-G c.11290T>C p.S3764P Missense 3/3 - 3
1-152276072-AC-A c.11289del p.S3764Qfs*15 Frameshift 3/3 - 1
1-152276076-C-T c.11286G>A p.P3762= Synonymous 3/3 - 1
1-152276077-G-T c.11285C>A p.P3762Q Missense 3/3 - 2
1-152276078-G-T c.11284C>A p.P3762T Missense 3/3 - 3
1-152276079-G-C c.11283C>G p.H3761Q Missense 3/3 - 1
1-152276079-G-T c.11283C>A p.H3761Q Missense 3/3 - 1
1-152276080-T-G c.11282A>C p.H3761P Missense 3/3 - 2
1-152276083-C-G c.11279G>C p.G3760A Missense 3/3 - 2
1-152276087-G-A c.11275C>T p.R3759C Missense 3/3 - 4
1-152276087-G-C c.11275C>G p.R3759G Missense 3/3 - 3
1-152276088-A-C c.11274T>G p.I3758M Missense 3/3 - 1
1-152276091-G-A c.11271C>T p.T3757= Synonymous 3/3 - 3
1-152276091-G-C c.11271C>G p.T3757= Synonymous 3/3 - 2
1-152276091-G-T c.11271C>A p.T3757= Synonymous 3/3 - 2
1-152276098-T-C c.11264A>G p.Q3755R Missense 3/3 - 1
1-152276102-C-G c.11260G>C p.G3754R Missense 3/3 - 2
1-152276103-C-A c.11259G>T p.E3753D Missense 3/3 - 4
1-152276103-C-G c.11259G>C p.E3753D Missense 3/3 - 2
1-152276105-C-T c.11257G>A p.E3753K Missense 3/3 - 1
1-152276110-G-A c.11252C>T p.S3751F Missense 3/3 - 1
1-152276110-G-T c.11252C>A p.S3751Y Missense 3/3 - 1
1-152276112-C-A c.11250G>T p.A3750= Synonymous 3/3 - 2
1-152276112-C-G c.11250G>C p.A3750= Synonymous 3/3 - 2
1-152276112-C-T c.11250G>A p.A3750= Synonymous 3/3 - 5
1-152276116-G-C c.11246C>G p.S3749* Nonsense 3/3 - 1
1-152276116-G-T c.11246C>A p.S3749* Nonsense 3/3 - 1
1-152276118-G-A c.11244C>T p.H3748= Synonymous 3/3 - 3
1-152276120-G-T c.11242C>A p.H3748N Missense 3/3 - 1
1-152276121-C-A c.11241G>T p.R3747S Missense 3/3 - 1
1-152276121-C-G c.11241G>C p.R3747S Missense 3/3 - 1
1-152276122-C-T c.11240G>A p.R3747K Missense 3/3 - 1
1-152276125-G-C c.11237C>G p.S3746C Missense 3/3 - 1
1-152276131-T-C c.11231A>G p.D3744G Missense 3/3 - 1
1-152276134-C-T c.11228G>A p.R3743Q Missense 3/3 - 4
1-152276135-G-A c.11227C>T p.R3743* Nonsense 3/3 - 3
1-152276144-C-A c.11218G>T p.E3740* Nonsense 3/3 - 3
1-152276144-C-T c.11218G>A p.E3740K Missense 3/3 - 1
1-152276145-G-A c.11217C>T p.H3739= Synonymous 3/3 - 3
1-152276147-G-A c.11215C>T p.H3739Y Missense 3/3 - 1
1-152276148-G-A c.11214C>T p.R3738= Synonymous 3/3 - 1
1-152276148-G-C c.11214C>G p.R3738= Synonymous 3/3 - 1
1-152276148-G-T c.11214C>A p.R3738= Synonymous 3/3 - 1
1-152276149-C-T c.11213G>A p.R3738H Missense 3/3 - 21
1-152276150-G-A c.11212C>T p.R3738C Missense 3/3 - 6
1-152276152-G-A c.11210C>T p.S3737F Missense 3/3 - 4
1-152276156-C-G c.11206G>C p.G3736R Missense 3/3 - 1
1-152276156-C-T c.11206G>A p.G3736R Missense 3/3 - 1
1-152276158-T-C c.11204A>G p.Q3735R Missense 3/3 - 2
1-152276160-T-C c.11202A>G p.R3734= Synonymous 3/3 - 2
1-152276162-T-G c.11200A>C p.R3734= Synonymous 3/3 - 1
1-152276164-C-A c.11198G>T p.G3733V Missense 3/3 - 1
1-152276164-C-G c.11198G>C p.G3733A Missense 3/3 - 1
1-152276167-C-A c.11195G>T p.G3732V Missense 3/3 - 1
1-152276169-A-C c.11193T>G p.T3731= Synonymous 3/3 - 1
1-152276169-A-G c.11193T>C p.T3731= Synonymous 3/3 - 2
1-152276169-A-T c.11193T>A p.T3731= Synonymous 3/3 - 1
1-152276170-G-A c.11192C>T p.T3731I Missense 3/3 - 4
1-152276172-A-G c.11190T>C p.S3730= Synonymous 3/3 - 2
1-152276176-G-A c.11186C>T p.P3729L Missense 3/3 - 2
1-152276176-G-T c.11186C>A p.P3729H Missense 3/3 - 1
1-152276179-C-A c.11183G>T p.G3728V Missense 3/3 - 2
1-152276179-C-T c.11183G>A p.G3728E Missense 3/3 - 1
1-152276180-C-A c.11182G>T p.G3728W Missense 3/3 - 1
1-152276180-C-T c.11182G>A p.G3728R Missense 3/3 - 2
1-152276185-C-A c.11177G>T p.R3726L Missense 3/3 - 1
1-152276185-C-T c.11177G>A p.R3726Q Missense 3/3 - 6
1-152276186-G-A c.11176C>T p.R3726W Missense 3/3 - 8
1-152276189-C-A c.11173G>T p.G3725* Nonsense 3/3 - 2
1-152276195-C-A c.11167G>T p.A3723S Missense 3/3 - 1
1-152276195-C-G c.11167G>C p.A3723P Missense 3/3 - 1
1-152276201-C-A c.11161G>T p.E3721* Nonsense 3/3 - 1
1-152276201-C-T c.11161G>A p.E3721K Missense 3/3 - 1
1-152276203-G-A c.11159C>T p.S3720F Missense 3/3 - 3
1-152276204-A-G c.11158T>C p.S3720P Missense 3/3 - 1
1-152276210-C-T c.11152G>A p.E3718K Missense 3/3 - 2
1-152276213-G-T c.11149C>A p.H3717N Missense 3/3 - 2
1-152276215-G-A c.11147C>T p.T3716I Missense 3/3 - 1
1-152276218-C-A c.11144G>T p.S3715I Missense 3/3 - 1
1-152276222-C-T c.11140G>A p.V3714M Missense 3/3 - 1
1-152276223-C-A c.11139G>T p.Q3713H Missense 3/3 - 3
1-152276223-C-G c.11139G>C p.Q3713H Missense 3/3 - 2
1-152276223-C-T c.11139G>A p.Q3713= Synonymous 3/3 - 1
1-152276224-T-A c.11138A>T p.Q3713L Missense 3/3 - 3
1-152276225-G-A c.11137C>T p.Q3713* Nonsense 3/3 - 1
1-152276226-G-A c.11136C>T p.Y3712= Synonymous 3/3 - 1
1-152276229-G-T c.11133C>A p.L3711= Synonymous 3/3 - 1
1-152276230-A-G c.11132T>C p.L3711P Missense 3/3 - 3
1-152276234-A-G c.11128T>C p.F3710L Missense 3/3 - 1
1-152276236-G-T c.11126C>A p.S3709Y Missense 3/3 - 2
1-152276239-C-A c.11123G>T p.G3708V Missense 3/3 - 1
1-152276242-G-C c.11120C>G p.S3707* Nonsense 3/3 - 3
1-152276242-G-T c.11120C>A p.S3707* Nonsense 3/3 - 4
1-152276245-C-T c.11117G>A p.R3706H Missense 3/3 - 1
1-152276248-C-A c.11114G>T p.G3705V Missense 3/3 - 1
1-152276249-C-T c.11113G>A p.G3705R Missense 3/3 - 2
1-152276253-C-A c.11109G>T p.R3703S Missense 3/3 - 1
1-152276253-C-G c.11109G>C p.R3703S Missense 3/3 - 1
1-152276254-C-T c.11108G>A p.R3703K Missense 3/3 - 1
1-152276257-C-T c.11105G>A p.G3702E Missense 3/3 - 5
1-152276259-CTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGT-C c.11045_11103del p.H3682Rfs*17 Frameshift 3/3 - 1
1-152276259-T-C c.11103A>G p.A3701= Synonymous 3/3 - 1
1-152276260-G-C c.11102C>G p.A3701G Missense 3/3 - 2
1-152276263-G-A c.11099C>T p.S3700L Missense 3/3 - 2
1-152276266-C-T c.11096G>A p.R3699Q Missense 3/3 - 4
1-152276269-C-T c.11093G>A p.G3698D Missense 3/3 - 1
1-152276276-T-C c.11086A>G p.T3696A Missense 3/3 - 3
1-152276278-G-A c.11084C>T p.S3695F Missense 3/3 - 1
1-152276280-C-T c.11082G>A p.E3694= Synonymous 3/3 - 2
1-152276282-C-G c.11080G>C p.E3694Q Missense 3/3 - 12
1-152276283-T-C c.11079A>G p.Q3693= Synonymous 3/3 - 1
1-152276285-G-A c.11077C>T p.Q3693* Nonsense 3/3 - 1
1-152276285-G-T c.11077C>A p.Q3693K Missense 3/3 - 1
1-152276286-G-C c.11076C>G p.H3692Q Missense 3/3 - 1
1-152276286-G-T c.11076C>A p.H3692Q Missense 3/3 - 1
1-152276300-G-A c.11062C>T p.H3688Y Missense 3/3 - 1
1-152276300-G-T c.11062C>A p.H3688N Missense 3/3 - 2
1-152276301-G-A c.11061C>T p.P3687= Synonymous 3/3 - 1
1-152276303-G-A c.11059C>T p.P3687S Missense 3/3 - 1
1-152276303-G-C c.11059C>G p.P3687A Missense 3/3 - 1
1-152276310-C-T c.11052G>A p.Q3684= Synonymous 3/3 - 1
1-152276312-G-A c.11050C>T p.Q3684* Nonsense 3/3 - 3
1-152276312-G-T c.11050C>A p.Q3684K Missense 3/3 - 1
1-152276314-C-T c.11048G>A p.G3683E Missense 3/3 - 3
1-152276315-C-G c.11047G>C p.G3683R Missense 3/3 - 2
1-152276315-C-T c.11047G>A p.G3683R Missense 3/3 - 2
1-152276316-G-A c.11046C>T p.H3682= Synonymous 3/3 - 1
1-152276316-G-C c.11046C>G p.H3682Q Missense 3/3 - 1
1-152276319-G-T c.11043C>A p.A3681= Synonymous 3/3 - 1
1-152276320-G-T c.11042C>A p.A3681D Missense 3/3 - 1
1-152276332-T-C c.11030A>G p.Q3677R Missense 3/3 - 1
1-152276335-G-T c.11027C>A p.T3676K Missense 3/3 - 2
1-152276336-T-C c.11026A>G p.T3676A Missense 3/3 - 3
1-152276331-CTG-C c.11029_11030del p.Q3677Vfs*41 Frameshift 3/3 - 1
1-152276341-G-A c.11021C>T p.S3674L Missense 3/3 - 1
1-152276343-G-C c.11019C>G p.D3673E Missense 3/3 - 1
1-152276346-T-C c.11016A>G p.E3672= Synonymous 3/3 - 2
1-152276348-C-T c.11014G>A p.E3672K Missense 3/3 - 1
1-152276355-T-A c.11007A>T p.G3669= Synonymous 3/3 - 1
1-152276355-T-C c.11007A>G p.G3669= Synonymous 3/3 - 1
1-152276355-T-G c.11007A>C p.G3669= Synonymous 3/3 - 1
1-152276358-C-A c.11004G>T p.E3668D Missense 3/3 - 1
1-152276360-C-T c.11002G>A p.E3668K Missense 3/3 - 3
1-152276368-C-G c.10994G>C p.S3665T Missense 3/3 - 7
1-152276371-G-A c.10991C>T p.A3664V Missense 3/3 - 1
1-152276365-TCACTGGCCTGACTAC-T c.10982_10996del p.G3661_S3665del InFrameDeletion 3/3 - 1
1-152276376-A-G c.10986T>C p.S3662= Synonymous 3/3 - 1
1-152276377-C-G c.10985G>C p.S3662T Missense 3/3 - 16
1-152276386-G-A c.10976C>T p.S3659F Missense 3/3 - 1
1-152276386-G-T c.10976C>A p.S3659Y Missense 3/3 - 5
1-152276387-A-T c.10975T>A p.S3659T Missense 3/3 - 2
1-152276392-C-T c.10970G>A p.R3657Q Missense 3/3 - 1
1-152276393-G-A c.10969C>T p.R3657* Nonsense 3/3 - 4
1-152276398-C-T c.10964G>A p.G3655E Missense 3/3 - 2
1-152276399-C-G c.10963G>C p.G3655R Missense 3/3 - 1
1-152276399-C-T c.10963G>A p.G3655R Missense 3/3 - 3
1-152276405-C-T c.10957G>A p.D3653N Missense 3/3 - 1
1-152276422-G-A c.10940C>T p.A3647V Missense 3/3 - 1
1-152276429-C-G c.10933G>C p.G3645R Missense 3/3 - 3
1-152276429-C-T c.10933G>A p.G3645R Missense 3/3 - 2
1-152276430-G-A c.10932C>T p.H3644= Synonymous 3/3 - 2
1-152276437-A-G c.10925T>C p.I3642T Missense 3/3 - 2
1-152276442-T-A c.10920A>T p.S3640= Synonymous 3/3 - 1
1-152276442-T-C c.10920A>G p.S3640= Synonymous 3/3 - 2
1-152276442-T-G c.10920A>C p.S3640= Synonymous 3/3 - 1
1-152276443-G-C c.10919C>G p.S3640* Nonsense 3/3 - 1
1-152276443-G-T c.10919C>A p.S3640* Nonsense 3/3 - 1
1-152276444-A-C c.10918T>G p.S3640A Missense 3/3 - 4
1-152276449-CT-TG c.10912_10913delinsCA p.R3638Q Missense 3/3 - 2
1-152276450-T-A c.10912A>T p.R3638* Nonsense 3/3 - 3
1-152276450-T-G c.10912A>C p.R3638= Synonymous 3/3 - 1
1-152276451-G-A c.10911C>T p.S3637= Synonymous 3/3 - 1
1-152276454-G-T c.10908C>A p.S3636R Missense 3/3 - 1
1-152276459-C-T c.10903G>A p.D3635N Missense 3/3 - 16
1-152276461-G-A c.10901C>T p.A3634V Missense 3/3 - 1
1-152276465-A-T c.10897T>A p.S3633T Missense 3/3 - 1
1-152276466-C-T c.10896G>A p.Q3632= Synonymous 3/3 - 1
1-152276467-T-TGGA c.10894_10895insTCC p.Q3631_Q3632insL InFrameInsertion 3/3 - 2
1-152276474-G-A c.10888C>T p.H3630Y Missense 3/3 - 2
1-152276474-G-T c.10888C>A p.H3630N Missense 3/3 - 1
1-152276477-G-T c.10885C>A p.H3629N Missense 3/3 - 1
1-152276476-TG-T c.10885del p.H3629Tfs*86 Frameshift 3/3 - 1
1-152276479-G-A c.10883C>T p.S3628F Missense 3/3 - 1
1-152276482-C-T c.10880G>A p.G3627E Missense 3/3 - 2
1-152276483-C-G c.10879G>C p.G3627R Missense 3/3 - 1
1-152276483-C-T c.10879G>A p.G3627R Missense 3/3 - 1
1-152276484-A-G c.10878T>C p.H3626= Synonymous 3/3 - 2
1-152276486-G-C c.10876C>G p.H3626D Missense 3/3 - 4
1-152276488-C-T c.10874G>A p.R3625K Missense 3/3 - 2
1-152276490-C-T c.10872G>A p.E3624= Synonymous 3/3 - 1
1-152276491-T-C c.10871A>G p.E3624G Missense 3/3 - 2
1-152276492-C-T c.10870G>A p.E3624K Missense 3/3 - 7
1-152276494-C-T c.10868G>A p.G3623E Missense 3/3 - 1
1-152276495-C-G c.10867G>C p.G3623R Missense 3/3 - 2
1-152276495-C-T c.10867G>A p.G3623R Missense 3/3 - 2
1-152276496-CT-C c.10866del p.G3623Efs*92 Frameshift 3/3 - 1
1-152276503-G-A c.10859C>T p.S3620L Missense 3/3 - 1
1-152276508-T-A c.10854A>T p.A3618= Synonymous 3/3 - 1
1-152276508-T-C c.10854A>G p.A3618= Synonymous 3/3 - 1
1-152276508-T-G c.10854A>C p.A3618= Synonymous 3/3 - 2
1-152276516-C-G c.10846G>C p.E3616Q Missense 3/3 - 1
1-152276516-C-T c.10846G>A p.E3616K Missense 3/3 - 3
1-152276519-G-A c.10843C>T p.H3615Y Missense 3/3 - 4
1-152276521-G-A c.10841C>T p.S3614F Missense 3/3 - 1
1-152276521-G-C c.10841C>G p.S3614C Missense 3/3 - 1
1-152276524-G-A c.10838C>T p.S3613L Missense 3/3 - 1
1-152276526-T-A c.10836A>T p.A3612= Synonymous 3/3 - 1
1-152276526-T-C c.10836A>G p.A3612= Synonymous 3/3 - 2
1-152276526-T-G c.10836A>C p.A3612= Synonymous 3/3 - 1
1-152276527-G-A c.10835C>T p.A3612V Missense 3/3 - 1
1-152276532-C-T c.10830G>A p.Q3610= Synonymous 3/3 - 5
1-152276534-G-A c.10828C>T p.Q3610* Nonsense 3/3 - 1
1-152276535-T-C c.10827A>G p.G3609= Synonymous 3/3 - 1
1-152276540-C-G c.10822G>C p.G3608R Missense 3/3 - 2
1-152276542-G-A c.10820C>T p.S3607F Missense 3/3 - 1
1-152276545-G-A c.10817C>T p.S3606F Missense 3/3 - 5
1-152276548-T-G c.10814A>C p.N3605T Missense 3/3 - 2
1-152276549-T-A c.10813A>T p.N3605Y Missense 3/3 - 1
1-152276551-T-C c.10811A>G p.E3604G Missense 3/3 - 1
1-152276552-C-A c.10810G>T p.E3604* Nonsense 3/3 - 1
1-152276552-C-T c.10810G>A p.E3604K Missense 3/3 - 4
1-152276554-G-C c.10808C>G p.A3603G Missense 3/3 - 2
1-152276554-G-T c.10808C>A p.A3603E Missense 3/3 - 2
1-152276555-C-T c.10807G>A p.A3603T Missense 3/3 - 2
1-152276556-A-G c.10806T>C p.H3602= Synonymous 3/3 - 1
1-152276557-T-C c.10805A>G p.H3602R Missense 3/3 - 1
1-152276558-G-C c.10804C>G p.H3602D Missense 3/3 - 1
1-152276560-T-C c.10802A>G p.H3601R Missense 3/3 - 1
1-152276563-G-A c.10799C>T p.T3600I Missense 3/3 - 2
1-152276564-T-G c.10798A>C p.T3600P Missense 3/3 - 1
1-152276566-C-G c.10796G>C p.G3599A Missense 3/3 - 1
1-152276566-C-T c.10796G>A p.G3599D Missense 3/3 - 2
1-152276570-A-G c.10792T>C p.S3598P Missense 3/3 - 1
1-152276571-T-A c.10791A>T p.Q3597H Missense 3/3 - 1
1-152276571-T-G c.10791A>C p.Q3597H Missense 3/3 - 1
1-152276574-TCT-ACA c.10786_10788delinsTGT p.R3596C Missense 3/3 - 1
1-152276579-A-G c.10783T>C p.S3595P Missense 3/3 - 1
1-152276579-GA-G c.10783del p.S3595Pfs*120 Frameshift 3/3 - 1
1-152276581-C-A c.10781G>T p.S3594I Missense 3/3 - 1
1-152276581-C-T c.10781G>A p.S3594N Missense 3/3 - 1
1-152276583-C-A c.10779G>T p.E3593D Missense 3/3 - 5
1-152276583-C-G c.10779G>C p.E3593D Missense 3/3 - 15
1-152276583-C-T c.10779G>A p.E3593= Synonymous 3/3 - 1
1-152276585-C-T c.10777G>A p.E3593K Missense 3/3 - 2
1-152276587-G-A c.10775C>T p.A3592V Missense 3/3 - 1
1-152276588-C-A c.10774G>T p.A3592S Missense 3/3 - 1
1-152276596-C-G c.10766G>C p.G3589A Missense 3/3 - 1
1-152276597-C-A c.10765G>T p.G3589W Missense 3/3 - 2
1-152276598-G-A c.10764C>T p.H3588= Synonymous 3/3 - 9
1-152276599-T-C c.10763A>G p.H3588R Missense 3/3 - 1
1-152276600-G-A c.10762C>T p.H3588Y Missense 3/3 - 1
1-152276601-ACC-CCA c.10759_10761delinsTGG p.G3587W Missense 3/3 - 1
1-152276603-C-A c.10759G>T p.G3587C Missense 3/3 - 3
1-152276603-C-T c.10759G>A p.G3587S Missense 3/3 - 1
1-152276604-G-A c.10758C>T p.A3586= Synonymous 3/3 - 3
1-152276604-G-C c.10758C>G p.A3586= Synonymous 3/3 - 1
1-152276604-G-T c.10758C>A p.A3586= Synonymous 3/3 - 2
1-152276606-C-T c.10756G>A p.A3586T Missense 3/3 - 2
1-152276612-C-T c.10750G>A p.D3584N Missense 3/3 - 1
1-152276615-C-T c.10747G>A p.E3583K Missense 3/3 - 9
1-152276616-G-C c.10746C>G p.H3582Q Missense 3/3 - 3
1-152276616-G-T c.10746C>A p.H3582Q Missense 3/3 - 6
1-152276618-G-A c.10744C>T p.H3582Y Missense 3/3 - 1
1-152276621-G-A c.10741C>T p.H3581Y Missense 3/3 - 4
1-152276623-G-T c.10739C>A p.S3580Y Missense 3/3 - 1
1-152276625-C-A c.10737G>T p.T3579= Synonymous 3/3 - 3
1-152276625-C-G c.10737G>C p.T3579= Synonymous 3/3 - 3
1-152276625-C-T c.10737G>A p.T3579= Synonymous 3/3 - 4
1-152276626-G-A c.10736C>T p.T3579M Missense 3/3 - 1
1-152276626-G-C c.10736C>G p.T3579R Missense 3/3 - 20
1-152276626-G-T c.10736C>A p.T3579K Missense 3/3 - 1
1-152276627-T-C c.10735A>G p.T3579A Missense 3/3 - 4
1-152276628-G-A c.10734C>T p.P3578= Synonymous 3/3 - 3
1-152276631-G-C c.10731C>G p.H3577Q Missense 3/3 - 1
1-152276631-G-T c.10731C>A p.H3577Q Missense 3/3 - 1
1-152276636-T-A c.10726A>T p.R3576* Nonsense 3/3 - 1
1-152276636-T-G c.10726A>C p.R3576= Synonymous 3/3 - 1
1-152276640-G-GCAGTCAAGAGATGGCTCCAGACAC c.10721_10722insGTGTCTGGAGCCATCTCTTGACTG p.G3574_S3575insCLEPSLDC InFrameInsertion 3/3 - 1
1-152276641-C-CAGTCAAGAGATGGCTCCAGA c.10720_10721insTCTGGAGCCATCTCTTGACT p.G3574Vfs*148 Frameshift 3/3 - 1
1-152276642-C-A c.10720G>T p.G3574C Missense 3/3 - 5
1-152276645-C-G c.10717G>C p.D3573H Missense 3/3 - 6
1-152276646-T-C c.10716A>G p.R3572= Synonymous 3/3 - 1
1-152276647-C-T c.10715G>A p.R3572K Missense 3/3 - 1
1-152276650-G-A c.10712C>T p.S3571L Missense 3/3 - 2
1-152276651-A-G c.10711T>C p.S3571P Missense 3/3 - 2
1-152276657-C-A c.10705G>T p.E3569* Nonsense 3/3 - 1
1-152276658-C-A c.10704G>T p.Q3568H Missense 3/3 - 4
1-152276658-C-G c.10704G>C p.Q3568H Missense 3/3 - 2
1-152276659-T-C c.10703A>G p.Q3568R Missense 3/3 - 6
1-152276659-TG-CC c.10702_10703delinsGG p.Q3568G Missense 3/3 - 3
1-152276660-G-C c.10702C>G p.Q3568E Missense 3/3 - 9
1-152276663-C-T c.10699G>A p.A3567T Missense 3/3 - 1
1-152276668-C-A c.10694G>T p.G3565V Missense 3/3 - 1
1-152276668-C-G c.10694G>C p.G3565A Missense 3/3 - 1
1-152276668-C-T c.10694G>A p.G3565E Missense 3/3 - 7
1-152276671-C-A c.10691G>T p.R3564L Missense 3/3 - 2
1-152276671-C-T c.10691G>A p.R3564H Missense 3/3 - 19
1-152276672-G-A c.10690C>T p.R3564C Missense 3/3 - 1
1-152276674-TG-T c.10687del p.H3563Ifs*152 Frameshift 3/3 - 1
1-152276683-G-A c.10679C>T p.S3560F Missense 3/3 - 1
1-152276688-A-C c.10674T>G p.S3558= Synonymous 3/3 - 1
1-152276688-A-G c.10674T>C p.S3558= Synonymous 3/3 - 1
1-152276688-A-T c.10674T>A p.S3558= Synonymous 3/3 - 1
1-152276690-A-G c.10672T>C p.S3558P Missense 3/3 - 5
1-152276691-C-A c.10671G>T p.G3557= Synonymous 3/3 - 1
1-152276691-C-G c.10671G>C p.G3557= Synonymous 3/3 - 1
1-152276691-C-T c.10671G>A p.G3557= Synonymous 3/3 - 1
1-152276692-C-G c.10670G>C p.G3557A Missense 3/3 - 3
1-152276692-C-T c.10670G>A p.G3557E Missense 3/3 - 1
1-152276695-G-T c.10667C>A p.S3556Y Missense 3/3 - 1
1-152276696-A-C c.10666T>G p.S3556A Missense 3/3 - 1
1-152276697-C-T c.10665G>A p.W3555* Nonsense 3/3 - 1
1-152276698-C-T c.10664G>A p.W3555* Nonsense 3/3 - 2
1-152276699-A-G c.10663T>C p.W3555R Missense 3/3 - 21
1-152276699-A-T c.10663T>A p.W3555R Missense 3/3 - 5
1-152276700-C-A c.10662G>T p.R3554S Missense 3/3 - 1
1-152276700-C-G c.10662G>C p.R3554S Missense 3/3 - 1
1-152276705-C-G c.10657G>C p.E3553Q Missense 3/3 - 6
1-152276705-C-T c.10657G>A p.E3553K Missense 3/3 - 1
1-152276706-A-C c.10656T>G p.S3552= Synonymous 3/3 - 1
1-152276706-A-G c.10656T>C p.S3552= Synonymous 3/3 - 1
1-152276706-A-T c.10656T>A p.S3552= Synonymous 3/3 - 2
1-152276707-G-T c.10655C>A p.S3552Y Missense 3/3 - 1
1-152276717-A-C c.10645T>G p.S3549A Missense 3/3 - 1
1-152276718-G-A c.10644C>T p.H3548= Synonymous 3/3 - 1
1-152276722-C-T c.10640G>A p.G3547E Missense 3/3 - 1
1-152276723-C-G c.10639G>C p.G3547R Missense 3/3 - 1
1-152276723-C-T c.10639G>A p.G3547R Missense 3/3 - 1
1-152276726-G-C c.10636C>G p.Q3546E Missense 3/3 - 3
1-152276728-CT-AA c.10633_10634delinsTT p.S3545F Missense 3/3 - 1
1-152276730-G-A c.10632C>T p.D3544= Synonymous 3/3 - 2
1-152276734-C-T c.10628G>A p.S3543N Missense 3/3 - 3
1-152276736-G-C c.10626C>G p.D3542E Missense 3/3 - 1
1-152276737-T-C c.10625A>G p.D3542G Missense 3/3 - 1
1-152276738-C-A c.10624G>T p.D3542Y Missense 3/3 - 1
1-152276738-C-T c.10624G>A p.D3542N Missense 3/3 - 1
1-152276737-TC-T c.10624del p.D3542Tfs*173 Frameshift 3/3 - 1
1-152276739-C-T c.10623G>A p.Q3541= Synonymous 3/3 - 1
1-152276742-G-A c.10620C>T p.S3540= Synonymous 3/3 - 2
1-152276752-G-A c.10610C>T p.S3537F Missense 3/3 - 1
1-152276755-C-G c.10607G>C p.G3536A Missense 3/3 - 1
1-152276755-C-T c.10607G>A p.G3536E Missense 3/3 - 8
1-152276758-T-C c.10604A>G p.Q3535R Missense 3/3 - 1
1-152276761-T-C c.10601A>G p.N3534S Missense 3/3 - 6
1-152276762-T-A c.10600A>T p.N3534Y Missense 3/3 - 5
1-152276762-T-G c.10600A>C p.N3534H Missense 3/3 - 5
1-152276763-C-T c.10599G>A p.R3533= Synonymous 3/3 - 6
1-152276765-T-G c.10597A>C p.R3533= Synonymous 3/3 - 2
1-152276768-T-C c.10594A>G p.S3532G Missense 3/3 - 1
1-152276769-T-A c.10593A>T p.T3531= Synonymous 3/3 - 1
1-152276770-G-C c.10592C>G p.T3531R Missense 3/3 - 5
1-152276772-C-A c.10590G>T p.R3530S Missense 3/3 - 23
1-152276772-C-G c.10590G>C p.R3530S Missense 3/3 - 3
1-152276772-C-T c.10590G>A p.R3530= Synonymous 3/3 - 2
1-152276774-T-G c.10588A>C p.R3530= Synonymous 3/3 - 1
1-152276773-C-T c.10589G>A p.R3530K Missense 3/3 - 4
1-152276775-G-A c.10587C>T p.P3529= Synonymous 3/3 - 1
1-152276775-G-C c.10587C>G p.P3529= Synonymous 3/3 - 1
1-152276775-G-T c.10587C>A p.P3529= Synonymous 3/3 - 1
1-152276776-G-A c.10586C>T p.P3529L Missense 3/3 - 1
1-152276776-G-T c.10586C>A p.P3529H Missense 3/3 - 4
1-152276777-G-A c.10585C>T p.P3529S Missense 3/3 - 3
1-152276780-C-G c.10582G>C p.G3528R Missense 3/3 - 2
1-152276780-C-T c.10582G>A p.G3528R Missense 3/3 - 2
1-152276781-C-A c.10581G>T p.A3527= Synonymous 3/3 - 2
1-152276781-C-G c.10581G>C p.A3527= Synonymous 3/3 - 1
1-152276781-C-T c.10581G>A p.A3527= Synonymous 3/3 - 2
1-152276782-G-A c.10580C>T p.A3527V Missense 3/3 - 2
1-152276782-G-T c.10580C>A p.A3527E Missense 3/3 - 3
1-152276783-C-T c.10579G>A p.A3527T Missense 3/3 - 1
1-152276787-T-G c.10575A>C p.Q3525H Missense 3/3 - 2
1-152276790-TC-GT c.10571_10572delinsAC p.G3524D Missense 3/3 - 1
1-152276791-C-T c.10571G>A p.G3524E Missense 3/3 - 2
1-152276792-C-G c.10570G>C p.G3524R Missense 3/3 - 1
1-152276792-C-T c.10570G>A p.G3524R Missense 3/3 - 2
1-152276795-G-T c.10567C>A p.Q3523K Missense 3/3 - 1
1-152276797-C-A c.10565G>T p.G3522V Missense 3/3 - 2
1-152276797-C-T c.10565G>A p.G3522D Missense 3/3 - 2
1-152276798-C-T c.10564G>A p.G3522S Missense 3/3 - 2
1-152276799-G-A c.10563C>T p.S3521= Synonymous 3/3 - 8
1-152276799-G-C c.10563C>G p.S3521= Synonymous 3/3 - 4
1-152276799-G-T c.10563C>A p.S3521= Synonymous 3/3 - 4
1-152276800-G-A c.10562C>T p.S3521F Missense 3/3 - 2
1-152276800-G-T c.10562C>A p.S3521Y Missense 3/3 - 1
1-152276801-A-C c.10561T>G p.S3521A Missense 3/3 - 1
1-152276803-T-G c.10559A>C p.Q3520P Missense 3/3 - 9
1-152276804-G-A c.10558C>T p.Q3520* Nonsense 3/3 - 1
1-152276804-G-C c.10558C>G p.Q3520E Missense 3/3 - 1
1-152276805-T-C c.10557A>G p.S3519= Synonymous 3/3 - 1
1-152276808-G-C c.10554C>G p.H3518Q Missense 3/3 - 1
1-152276813-T-C c.10549A>G p.R3517G Missense 3/3 - 1
1-152276817-G-A c.10545C>T p.S3515= Synonymous 3/3 - 2
1-152276818-C-T c.10544G>A p.S3515N Missense 3/3 - 2
1-152276820-G-C c.10542C>G p.D3514E Missense 3/3 - 1
1-152276821-T-C c.10541A>G p.D3514G Missense 3/3 - 1
1-152276822-C-A c.10540G>T p.D3514Y Missense 3/3 - 1
1-152276822-C-T c.10540G>A p.D3514N Missense 3/3 - 1
1-152276823-C-A c.10539G>T p.A3513= Synonymous 3/3 - 2
1-152276823-C-G c.10539G>C p.A3513= Synonymous 3/3 - 2
1-152276823-C-T c.10539G>A p.A3513= Synonymous 3/3 - 5
1-152276824-G-A c.10538C>T p.A3513V Missense 3/3 - 4
1-152276826-C-A c.10536G>T p.Q3512H Missense 3/3 - 1
1-152276826-C-G c.10536G>C p.Q3512H Missense 3/3 - 1
1-152276826-C-T c.10536G>A p.Q3512= Synonymous 3/3 - 4
1-152276827-T-C c.10535A>G p.Q3512R Missense 3/3 - 2
1-152276828-G-C c.10534C>G p.Q3512E Missense 3/3 - 1
1-152276831-T-A c.10531A>T p.T3511S Missense 3/3 - 1
1-152276840-C-T c.10522G>A p.E3508K Missense 3/3 - 5
1-152276843-G-A c.10519C>T p.H3507Y Missense 3/3 - 1
1-152276844-G-A c.10518C>T p.H3506= Synonymous 3/3 - 1
1-152276844-G-C c.10518C>G p.H3506Q Missense 3/3 - 1
1-152276844-G-T c.10518C>A p.H3506Q Missense 3/3 - 1
1-152276848-T-C c.10514A>G p.H3505R Missense 3/3 - 3
1-152276849-G-A c.10513C>T p.H3505Y Missense 3/3 - 3
1-152276850-C-A c.10512G>T p.S3504= Synonymous 3/3 - 2
1-152276850-C-G c.10512G>C p.S3504= Synonymous 3/3 - 1
1-152276850-C-T c.10512G>A p.S3504= Synonymous 3/3 - 1
1-152276851-G-A c.10511C>T p.S3504L Missense 3/3 - 5
1-152276854-C-T c.10508G>A p.W3503* Nonsense 3/3 - 2
1-152276855-A-C c.10507T>G p.W3503G Missense 3/3 - 4
1-152276858-A-G c.10504T>C p.S3502P Missense 3/3 - 2
1-152276863-C-T c.10499G>A p.R3500K Missense 3/3 - 1
1-152276865-G-A c.10497C>T p.S3499= Synonymous 3/3 - 1
1-152276865-G-C c.10497C>G p.S3499= Synonymous 3/3 - 1
1-152276865-G-T c.10497C>A p.S3499= Synonymous 3/3 - 1
1-152276866-G-A c.10496C>T p.S3499F Missense 3/3 - 2
1-152276866-GA-AG c.10495_10496delinsCT p.S3499L Missense 3/3 - 5
1-152276866-G-C c.10496C>G p.S3499C Missense 3/3 - 2
1-152276867-A-G c.10495T>C p.S3499P Missense 3/3 - 2
1-152276871-A-C c.10491T>G p.D3497E Missense 3/3 - 3
1-152276871-A-G c.10491T>C p.D3497= Synonymous 3/3 - 17
1-152276871-A-T c.10491T>A p.D3497E Missense 3/3 - 2
1-152276873-C-G c.10489G>C p.D3497H Missense 3/3 - 1
1-152276874-T-A c.10488A>T p.G3496= Synonymous 3/3 - 1
1-152276874-T-C c.10488A>G p.G3496= Synonymous 3/3 - 1
1-152276874-T-G c.10488A>C p.G3496= Synonymous 3/3 - 1
1-152276875-C-T c.10487G>A p.G3496E Missense 3/3 - 2
1-152276877-T-A c.10485A>T p.S3495= Synonymous 3/3 - 1
1-152276877-T-C c.10485A>G p.S3495= Synonymous 3/3 - 2
1-152276877-T-G c.10485A>C p.S3495= Synonymous 3/3 - 1
1-152276878-G-A c.10484C>T p.S3495L Missense 3/3 - 2
1-152276880-T-C c.10482A>G p.Q3494= Synonymous 3/3 - 1
1-152276882-G-A c.10480C>T p.Q3494* Nonsense 3/3 - 2
1-152276882-G-C c.10480C>G p.Q3494E Missense 3/3 - 1
1-152276884-T-C c.10478A>G p.E3493G Missense 3/3 - 1
1-152276885-C-CCTT c.10476_10477insAAG p.D3492_E3493insK InFrameInsertion 3/3 - 1
1-152276885-C-T c.10477G>A p.E3493K Missense 3/3 - 1
1-152276886-G-A c.10476C>T p.D3492= Synonymous 3/3 - 7
1-152276887-T-C c.10475A>G p.D3492G Missense 3/3 - 2
1-152276888-C-A c.10474G>T p.D3492Y Missense 3/3 - 7
1-152276888-C-T c.10474G>A p.D3492N Missense 3/3 - 3
1-152276889-A-G c.10473T>C p.N3491= Synonymous 3/3 - 17
1-152276891-TTAC-T c.10469_10471del p.R3490_N3491delinsH MultiAAMissense 3/3 - 1
1-152276893-C-A c.10469G>T p.R3490L Missense 3/3 - 1
1-152276893-C-T c.10469G>A p.R3490H Missense 3/3 - 1
1-152276894-G-A c.10468C>T p.R3490C Missense 3/3 - 2
1-152276894-G-T c.10468C>A p.R3490S Missense 3/3 - 1
1-152276895-A-T c.10467T>A p.T3489= Synonymous 3/3 - 1
1-152276900-G-C c.10462C>G p.Q3488E Missense 3/3 - 3
1-152276900-G-T c.10462C>A p.Q3488K Missense 3/3 - 5
1-152276903-T-A c.10459A>T p.R3487* Nonsense 3/3 - 1
1-152276904-G-A c.10458C>T p.S3486= Synonymous 3/3 - 1
1-152276907-G-T c.10455C>A p.A3485= Synonymous 3/3 - 2
1-152276908-G-A c.10454C>T p.A3485V Missense 3/3 - 1
1-152276908-G-C c.10454C>G p.A3485G Missense 3/3 - 1
1-152276911-C-G c.10451G>C p.S3484T Missense 3/3 - 1
1-152276911-C-T c.10451G>A p.S3484N Missense 3/3 - 5
1-152276911-CT-TA c.10450_10451delinsTA p.S3484Y Missense 3/3 - 1
1-152276913-T-A c.10449A>T p.R3483S Missense 3/3 - 4
1-152276913-T-G c.10449A>C p.R3483S Missense 3/3 - 5
1-152276914-C-A c.10448G>T p.R3483I Missense 3/3 - 1
1-152276915-T-C c.10447A>G p.R3483G Missense 3/3 - 1
1-152276917-G-A c.10445C>T p.S3482F Missense 3/3 - 2
1-152276920-C-A c.10442G>T p.G3481V Missense 3/3 - 1
1-152276920-C-T c.10442G>A p.G3481E Missense 3/3 - 8
1-152276930-C-G c.10432G>C p.G3478R Missense 3/3 - 1
1-152276930-C-T c.10432G>A p.G3478R Missense 3/3 - 1
1-152276932-C-T c.10430G>A p.R3477H Missense 3/3 - 5
1-152276933-G-A c.10429C>T p.R3477C Missense 3/3 - 3
1-152276932-CG-C c.10429del p.R3477Vfs*238 Frameshift 3/3 - 1
1-152276938-G-A c.10424C>T p.A3475V Missense 3/3 - 3
1-152276942-C-T c.10420G>A p.D3474N Missense 3/3 - 3
1-152276944-G-T c.10418C>A p.S3473Y Missense 3/3 - 1
1-152276947-C-T c.10415G>A p.R3472K Missense 3/3 - 2
1-152276950-C-A c.10412G>T p.G3471V Missense 3/3 - 4
1-152276950-C-T c.10412G>A p.G3471E Missense 3/3 - 3
1-152276955-G-A c.10407C>T p.S3469= Synonymous 3/3 - 1
1-152276955-G-C c.10407C>G p.S3469= Synonymous 3/3 - 1
1-152276955-G-T c.10407C>A p.S3469= Synonymous 3/3 - 1
1-152276956-G-T c.10406C>A p.S3469Y Missense 3/3 - 6
1-152276959-G-T c.10403C>A p.T3468K Missense 3/3 - 1
1-152276961-G-C c.10401C>G p.T3467= Synonymous 3/3 - 2
1-152276976-G-A c.10386C>T p.S3462= Synonymous 3/3 - 3
1-152276976-G-C c.10386C>G p.S3462= Synonymous 3/3 - 2
1-152276976-G-T c.10386C>A p.S3462= Synonymous 3/3 - 2
1-152276979-C-T c.10383G>A p.G3461= Synonymous 3/3 - 1
1-152276981-C-A c.10381G>T p.G3461W Missense 3/3 - 2
1-152276984-A-C c.10378T>G p.S3460A Missense 3/3 - 1
1-152276988-T-G c.10374A>C p.G3458= Synonymous 3/3 - 1
1-152276989-C-A c.10373G>T p.G3458V Missense 3/3 - 1
1-152276994-C-T c.10368G>A p.R3456= Synonymous 3/3 - 1
1-152276995-C-G c.10367G>C p.R3456T Missense 3/3 - 1
1-152276996-T-C c.10366A>G p.R3456G Missense 3/3 - 1
1-152276999-C-G c.10363G>C p.D3455H Missense 3/3 - 1
1-152276999-C-T c.10363G>A p.D3455N Missense 3/3 - 1
1-152277003-C-A c.10359G>T p.S3453= Synonymous 3/3 - 3
1-152277003-C-G c.10359G>C p.S3453= Synonymous 3/3 - 3
1-152277003-C-T c.10359G>A p.S3453= Synonymous 3/3 - 5
1-152277004-G-A c.10358C>T p.S3453L Missense 3/3 - 1
1-152277009-C-A c.10353G>T p.E3451D Missense 3/3 - 1
1-152277011-C-A c.10351G>T p.E3451* Nonsense 3/3 - 1
1-152277011-C-T c.10351G>A p.E3451K Missense 3/3 - 2
1-152277012-G-A c.10350C>T p.Y3450= Synonymous 3/3 - 2
1-152277014-A-G c.10348T>C p.Y3450H Missense 3/3 - 5
1-152277018-G-A c.10344C>T p.S3448= Synonymous 3/3 - 1
1-152277018-G-C c.10344C>G p.S3448= Synonymous 3/3 - 1
1-152277018-G-T c.10344C>A p.S3448= Synonymous 3/3 - 1
1-152277019-GA-AG c.10342_10343delinsCT p.S3448L Missense 3/3 - 1
1-152277021-T-A c.10341A>T p.G3447= Synonymous 3/3 - 1
1-152277021-T-C c.10341A>G p.G3447= Synonymous 3/3 - 2
1-152277021-T-G c.10341A>C p.G3447= Synonymous 3/3 - 1
1-152277023-C-A c.10339G>T p.G3447* Nonsense 3/3 - 2
1-152277026-G-A c.10336C>T p.Q3446* Nonsense 3/3 - 2
1-152277027-C-T c.10335G>A p.R3445= Synonymous 3/3 - 2
1-152277029-T-G c.10333A>C p.R3445= Synonymous 3/3 - 1
1-152277028-C-T c.10334G>A p.R3445K Missense 3/3 - 3
1-152277029-T-A c.10333A>T p.R3445W Missense 3/3 - 1
1-152277030-T-A c.10332A>T p.G3444= Synonymous 3/3 - 1
1-152277030-T-C c.10332A>G p.G3444= Synonymous 3/3 - 1
1-152277030-TCC-GCT c.10330_10332delinsAGC p.G3444S Missense 3/3 - 1
1-152277030-TC-GT c.10331_10332delinsAC p.G3444D Missense 3/3 - 2
1-152277030-T-G c.10332A>C p.G3444= Synonymous 3/3 - 1
1-152277031-C-A c.10331G>T p.G3444V Missense 3/3 - 1
1-152277031-C-G c.10331G>C p.G3444A Missense 3/3 - 1
1-152277031-C-T c.10331G>A p.G3444E Missense 3/3 - 2
1-152277033-T-A c.10329A>T p.R3443S Missense 3/3 - 1
1-152277033-T-G c.10329A>C p.R3443S Missense 3/3 - 1
1-152277035-T-C c.10327A>G p.R3443G Missense 3/3 - 4
1-152277036-T-C c.10326A>G p.R3442= Synonymous 3/3 - 1
1-152277038-T-G c.10324A>C p.R3442= Synonymous 3/3 - 1
1-152277037-C-T c.10325G>A p.R3442K Missense 3/3 - 4
1-152277038-T-A c.10324A>T p.R3442* Nonsense 3/3 - 2
1-152277039-G-A c.10323C>T p.S3441= Synonymous 3/3 - 1
1-152277039-G-C c.10323C>G p.S3441R Missense 3/3 - 2
1-152277040-C-A c.10322G>T p.S3441I Missense 3/3 - 1
1-152277044-A-G c.10318T>C p.S3440P Missense 3/3 - 4
1-152277046-C-A c.10316G>T p.G3439V Missense 3/3 - 3
1-152277047-C-G c.10315G>C p.G3439R Missense 3/3 - 1
1-152277047-C-T c.10315G>A p.G3439R Missense 3/3 - 2
1-152277048-C-A c.10314G>T p.P3438= Synonymous 3/3 - 1
1-152277048-C-G c.10314G>C p.P3438= Synonymous 3/3 - 2
1-152277048-C-T c.10314G>A p.P3438= Synonymous 3/3 - 1
1-152277049-G-A c.10313C>T p.P3438L Missense 3/3 - 5
1-152277051-G-C c.10311C>G p.H3437Q Missense 3/3 - 1
1-152277051-G-T c.10311C>A p.H3437Q Missense 3/3 - 1
1-152277054-T-A c.10308A>T p.G3436= Synonymous 3/3 - 3
1-152277054-T-C c.10308A>G p.G3436= Synonymous 3/3 - 3
1-152277054-T-G c.10308A>C p.G3436= Synonymous 3/3 - 3
1-152277055-C-G c.10307G>C p.G3436A Missense 3/3 - 24
1-152277058-C-G c.10304G>C p.R3435P Missense 3/3 - 1
1-152277058-C-T c.10304G>A p.R3435H Missense 3/3 - 6
1-152277059-G-A c.10303C>T p.R3435C Missense 3/3 - 7
1-152277066-G-T c.10296C>A p.D3432E Missense 3/3 - 2
1-152277068-C-G c.10294G>C p.D3432H Missense 3/3 - 3
1-152277068-C-T c.10294G>A p.D3432N Missense 3/3 - 2
1-152277071-G-A c.10291C>T p.Q3431* Nonsense 3/3 - 1
1-152277074-C-G c.10288G>C p.G3430R Missense 3/3 - 2
1-152277075-C-A c.10287G>T p.E3429D Missense 3/3 - 2
1-152277075-C-G c.10287G>C p.E3429D Missense 3/3 - 2
1-152277075-C-T c.10287G>A p.E3429= Synonymous 3/3 - 1
1-152277077-C-A c.10285G>T p.E3429* Nonsense 3/3 - 2
1-152277080-G-T c.10282C>A p.Q3428K Missense 3/3 - 1
1-152277082-G-T c.10280C>A p.S3427Y Missense 3/3 - 1
1-152277083-A-G c.10279T>C p.S3427P Missense 3/3 - 2
1-152277084-C-T c.10278G>A p.A3426= Synonymous 3/3 - 2
1-152277085-G-A c.10277C>T p.A3426V Missense 3/3 - 1
1-152277088-G-A c.10274C>T p.S3425L Missense 3/3 - 2
1-152277090-G-A c.10272C>T p.H3424= Synonymous 3/3 - 2
1-152277092-G-A c.10270C>T p.H3424Y Missense 3/3 - 1
1-152277093-C-T c.10269G>A p.R3423= Synonymous 3/3 - 4
1-152277095-T-G c.10267A>C p.R3423= Synonymous 3/3 - 3
1-152277100-C-G c.10262G>C p.S3421T Missense 3/3 - 1
1-152277100-C-T c.10262G>A p.S3421N Missense 3/3 - 5
1-152277101-T-C c.10261A>G p.S3421G Missense 3/3 - 2
1-152277104-C-G c.10258G>C p.D3420H Missense 3/3 - 1
1-152277106-C-T c.10256G>A p.R3419Q Missense 3/3 - 8
1-152277107-G-A c.10255C>T p.R3419* Nonsense 3/3 - 14
1-152277110-C-A c.10252G>T p.A3418S Missense 3/3 - 6
1-152277111-C-T c.10251G>A p.Q3417= Synonymous 3/3 - 5
1-152277112-T-A c.10250A>T p.Q3417L Missense 3/3 - 1
1-152277116-C-T c.10246G>A p.E3416K Missense 3/3 - 11
1-152277117-G-A c.10245C>T p.H3415= Synonymous 3/3 - 1
1-152277119-G-A c.10243C>T p.H3415Y Missense 3/3 - 1
1-152277120-G-A c.10242C>T p.H3414= Synonymous 3/3 - 1
1-152277121-T-C c.10241A>G p.H3414R Missense 3/3 - 7
1-152277123-G-A c.10239C>T p.S3413= Synonymous 3/3 - 1
1-152277123-G-C c.10239C>G p.S3413= Synonymous 3/3 - 1
1-152277123-G-T c.10239C>A p.S3413= Synonymous 3/3 - 2
1-152277124-G-A c.10238C>T p.S3413F Missense 3/3 - 1
1-152277125-A-G c.10237T>C p.S3413P Missense 3/3 - 1
1-152277128-C-A c.10234G>T p.G3412* Nonsense 3/3 - 2
1-152277128-C-G c.10234G>C p.G3412R Missense 3/3 - 2
1-152277128-C-T c.10234G>A p.G3412R Missense 3/3 - 5
1-152277131-G-A c.10231C>T p.Q3411* Nonsense 3/3 - 1
1-152277133-C-T c.10229G>A p.R3410K Missense 3/3 - 2
1-152277134-T-A c.10228A>T p.R3410* Nonsense 3/3 - 2
1-152277136-C-T c.10226G>A p.R3409Q Missense 3/3 - 10
1-152277135-T-A c.10227A>T p.R3409= Synonymous 3/3 - 2
1-152277135-T-C c.10227A>G p.R3409= Synonymous 3/3 - 1
1-152277135-T-G c.10227A>C p.R3409= Synonymous 3/3 - 1
1-152277137-G-A c.10225C>T p.R3409* Nonsense 3/3 - 10
1-152277137-G-C c.10225C>G p.R3409G Missense 3/3 - 6
1-152277137-G-T c.10225C>A p.R3409= Synonymous 3/3 - 1
1-152277140-C-T c.10222G>A p.G3408R Missense 3/3 - 1
1-152277145-CTGG-C c.10214_10216del p.T3405del InFrameDeletion 3/3 - 1
1-152277149-T-G c.10213A>C p.T3405P Missense 3/3 - 3
1-152277150-C-A c.10212G>T p.R3404S Missense 3/3 - 1
1-152277150-CCT-ATG c.10210_10212delinsCAT p.R3404H Missense 3/3 - 1
1-152277151-C-T c.10211G>A p.R3404K Missense 3/3 - 2
1-152277152-T-C c.10210A>G p.R3404G Missense 3/3 - 3
1-152277153-G-A c.10209C>T p.T3403= Synonymous 3/3 - 1
1-152277153-G-C c.10209C>G p.T3403= Synonymous 3/3 - 1
1-152277153-G-T c.10209C>A p.T3403= Synonymous 3/3 - 2
1-152277157-C-T c.10205G>A p.R3402Q Missense 3/3 - 4
1-152277156-C-A c.10206G>T p.R3402= Synonymous 3/3 - 2
1-152277156-C-G c.10206G>C p.R3402= Synonymous 3/3 - 5
1-152277156-C-T c.10206G>A p.R3402= Synonymous 3/3 - 5
1-152277158-G-A c.10204C>T p.R3402W Missense 3/3 - 4
1-152277158-G-T c.10204C>A p.R3402= Synonymous 3/3 - 2
1-152277159-C-A c.10203G>T p.G3401= Synonymous 3/3 - 1
1-152277159-C-G c.10203G>C p.G3401= Synonymous 3/3 - 1
1-152277159-C-T c.10203G>A p.G3401= Synonymous 3/3 - 3
1-152277163-T-C c.10199A>G p.H3400R Missense 3/3 - 1
1-152277164-G-T c.10198C>A p.H3400N Missense 3/3 - 3
1-152277166-G-A c.10196C>T p.A3399V Missense 3/3 - 1
1-152277168-A-C c.10194T>G p.S3398= Synonymous 3/3 - 13
1-152277168-A-G c.10194T>C p.S3398= Synonymous 3/3 - 16
1-152277168-A-T c.10194T>A p.S3398= Synonymous 3/3 - 13
1-152277169-G-T c.10193C>A p.S3398Y Missense 3/3 - 1
1-152277171-C-G c.10191G>C p.E3397D Missense 3/3 - 1
1-152277173-C-T c.10189G>A p.E3397K Missense 3/3 - 2
1-152277174-A-C c.10188T>G p.S3396= Synonymous 3/3 - 2
1-152277174-A-G c.10188T>C p.S3396= Synonymous 3/3 - 1
1-152277174-A-T c.10188T>A p.S3396= Synonymous 3/3 - 3
1-152277175-G-A c.10187C>T p.S3396F Missense 3/3 - 1
1-152277176-A-G c.10186T>C p.S3396P Missense 3/3 - 2
1-152277177-C-T c.10185G>A p.Q3395= Synonymous 3/3 - 2
1-152277183-CAT-C c.10178_10179del p.H3393Rfs*4 Frameshift 3/3 - 1
1-152277184-T-C c.10178A>G p.H3393R Missense 3/3 - 6
1-152277185-G-C c.10177C>G p.H3393D Missense 3/3 - 3
1-152277187-G-A c.10175C>T p.T3392I Missense 3/3 - 1
1-152277191-T-A c.10171A>T p.S3391C Missense 3/3 - 1
1-152277195-C-A c.10167G>T p.Q3389H Missense 3/3 - 2
1-152277195-C-G c.10167G>C p.Q3389H Missense 3/3 - 2
1-152277196-T-A c.10166A>T p.Q3389L Missense 3/3 - 3
1-152277200-A-G c.10162T>C p.Y3388H Missense 3/3 - 5
1-152277201-G-A c.10161C>T p.L3387= Synonymous 3/3 - 3
1-152277201-G-C c.10161C>G p.L3387= Synonymous 3/3 - 3
1-152277201-G-T c.10161C>A p.L3387= Synonymous 3/3 - 3
1-152277202-A-C c.10160T>G p.L3387R Missense 3/3 - 1
1-152277203-G-T c.10159C>A p.L3387I Missense 3/3 - 2
1-152277210-C-A c.10152G>T p.G3384= Synonymous 3/3 - 1
1-152277210-C-G c.10152G>C p.G3384= Synonymous 3/3 - 1
1-152277210-C-T c.10152G>A p.G3384= Synonymous 3/3 - 1
1-152277211-C-G c.10151G>C p.G3384A Missense 3/3 - 1
1-152277212-C-G c.10150G>C p.G3384R Missense 3/3 - 1
1-152277213-T-A c.10149A>T p.S3383= Synonymous 3/3 - 1
1-152277213-T-C c.10149A>G p.S3383= Synonymous 3/3 - 1
1-152277213-T-G c.10149A>C p.S3383= Synonymous 3/3 - 1
1-152277217-C-T c.10145G>A p.R3382H Missense 3/3 - 7
1-152277218-G-A c.10144C>T p.R3382C Missense 3/3 - 7
1-152277225-C-A c.10137G>T p.R3379S Missense 3/3 - 1
1-152277224-AC-A c.10137del p.R3379Sfs*12 Frameshift 3/3 - 1
1-152277226-C-G c.10136G>C p.R3379T Missense 3/3 - 2
1-152277228-T-C c.10134A>G p.G3378= Synonymous 3/3 - 1
1-152277229-C-T c.10133G>A p.G3378E Missense 3/3 - 3
1-152277230-C-G c.10132G>C p.G3378R Missense 3/3 - 1
1-152277230-C-T c.10132G>A p.G3378R Missense 3/3 - 2
1-152277231-C-A c.10131G>T p.G3377= Synonymous 3/3 - 1
1-152277231-C-G c.10131G>C p.G3377= Synonymous 3/3 - 2
1-152277231-C-T c.10131G>A p.G3377= Synonymous 3/3 - 2
1-152277232-C-T c.10130G>A p.G3377E Missense 3/3 - 4
1-152277228-T-TC c.10133dup p.R3379Kfs*16 Frameshift 3/3 - 1
1-152277233-C-A c.10129G>T p.G3377W Missense 3/3 - 3
1-152277235-G-C c.10127C>G p.S3376* Nonsense 3/3 - 1
1-152277235-G-T c.10127C>A p.S3376* Nonsense 3/3 - 1
1-152277238-C-T c.10124G>A p.R3375Q Missense 3/3 - 5
1-152277239-G-A c.10123C>T p.R3375W Missense 3/3 - 1
1-152277241-T-C c.10121A>G p.D3374G Missense 3/3 - 3
1-152277244-C-T c.10118G>A p.R3373H Missense 3/3 - 2
1-152277245-G-A c.10117C>T p.R3373C Missense 3/3 - 1
1-152277245-G-C c.10117C>G p.R3373G Missense 3/3 - 3
1-152277248-C-A c.10114G>T p.A3372S Missense 3/3 - 2
1-152277248-C-T c.10114G>A p.A3372T Missense 3/3 - 5
1-152277249-G-A c.10113C>T p.S3371= Synonymous 3/3 - 5
1-152277249-G-C c.10113C>G p.S3371= Synonymous 3/3 - 3
1-152277249-G-T c.10113C>A p.S3371= Synonymous 3/3 - 4
1-152277250-G-A c.10112C>T p.S3371F Missense 3/3 - 1
1-152277254-C-G c.10108G>C p.E3370Q Missense 3/3 - 1
1-152277256-T-C c.10106A>G p.Q3369R Missense 3/3 - 1
1-152277258-G-A c.10104C>T p.H3368= Synonymous 3/3 - 1
1-152277260-G-T c.10102C>A p.H3368N Missense 3/3 - 2
1-152277261-G-A c.10101C>T p.S3367= Synonymous 3/3 - 1
1-152277266-G-A c.10096C>T p.Q3366* Nonsense 3/3 - 1
1-152277266-G-C c.10096C>G p.Q3366E Missense 3/3 - 4
1-152277268-T-C c.10094A>G p.Q3365R Missense 3/3 - 2
1-152277269-G-A c.10093C>T p.Q3365* Nonsense 3/3 - 1
1-152277269-G-T c.10093C>A p.Q3365K Missense 3/3 - 2
1-152277275-G-A c.10087C>T p.P3363S Missense 3/3 - 1
1-152277275-G-T c.10087C>A p.P3363T Missense 3/3 - 1
1-152277280-G-T c.10082C>A p.A3361D Missense 3/3 - 1
1-152277286-C-T c.10076G>A p.G3359E Missense 3/3 - 4
1-152277292-C-G c.10070G>C p.G3357A Missense 3/3 - 1
1-152277292-C-T c.10070G>A p.G3357D Missense 3/3 - 1
1-152277297-C-A c.10065G>T p.V3355= Synonymous 3/3 - 2
1-152277297-C-G c.10065G>C p.V3355= Synonymous 3/3 - 1
1-152277297-C-T c.10065G>A p.V3355= Synonymous 3/3 - 1
1-152277299-C-A c.10063G>T p.V3355L Missense 3/3 - 1
1-152277299-C-G c.10063G>C p.V3355L Missense 3/3 - 2
1-152277303-C-T c.10059G>A p.Q3353= Synonymous 3/3 - 1
1-152277307-G-C c.10055C>G p.T3352R Missense 3/3 - 3
1-152277313-G-C c.10049C>G p.S3350* Nonsense 3/3 - 2
1-152277313-G-T c.10049C>A p.S3350* Nonsense 3/3 - 1
1-152277315-C-A c.10047G>T p.E3349D Missense 3/3 - 4
1-152277315-C-G c.10047G>C p.E3349D Missense 3/3 - 5
1-152277317-C-A c.10045G>T p.E3349* Nonsense 3/3 - 2
1-152277318-T-C c.10044A>G p.E3348= Synonymous 3/3 - 1
1-152277324-A-C c.10038T>G p.H3346Q Missense 3/3 - 2
1-152277326-G-A c.10036C>T p.H3346Y Missense 3/3 - 1
1-152277328-C-T c.10034G>A p.G3345E Missense 3/3 - 2
1-152277329-C-G c.10033G>C p.G3345R Missense 3/3 - 3
1-152277329-C-T c.10033G>A p.G3345R Missense 3/3 - 7
1-152277330-C-A c.10032G>T p.E3344D Missense 3/3 - 1
1-152277330-C-G c.10032G>C p.E3344D Missense 3/3 - 1
1-152277331-T-C c.10031A>G p.E3344G Missense 3/3 - 1
1-152277332-C-T c.10030G>A p.E3344K Missense 3/3 - 1
1-152277335-T-A c.10027A>T p.S3343C Missense 3/3 - 2
1-152277336-A-G c.10026T>C p.D3342= Synonymous 3/3 - 2
1-152277338-C-T c.10024G>A p.D3342N Missense 3/3 - 4
1-152277342-G-A c.10020C>T p.A3340= Synonymous 3/3 - 1
1-152277342-G-C c.10020C>G p.A3340= Synonymous 3/3 - 1
1-152277342-G-T c.10020C>A p.A3340= Synonymous 3/3 - 1
1-152277345-C-T c.10017G>A p.Q3339= Synonymous 3/3 - 16
1-152277348-A-C c.10014T>G p.S3338R Missense 3/3 - 1
1-152277348-A-T c.10014T>A p.S3338R Missense 3/3 - 1
1-152277350-T-G c.10012A>C p.S3338R Missense 3/3 - 1
1-152277354-A-T c.10008T>A p.S3336R Missense 3/3 - 1
1-152277357-G-A c.10005C>T p.S3335= Synonymous 3/3 - 2
1-152277357-G-C c.10005C>G p.S3335= Synonymous 3/3 - 1
1-152277357-G-T c.10005C>A p.S3335= Synonymous 3/3 - 1
1-152277358-G-C c.10004C>G p.S3335C Missense 3/3 - 1
1-152277358-G-T c.10004C>A p.S3335Y Missense 3/3 - 1
1-152277360-C-A c.10002G>T p.G3334= Synonymous 3/3 - 2
1-152277360-C-G c.10002G>C p.G3334= Synonymous 3/3 - 1
1-152277360-C-T c.10002G>A p.G3334= Synonymous 3/3 - 1
1-152277361-C-T c.10001G>A p.G3334E Missense 3/3 - 3
1-152277362-C-G c.10000G>C p.G3334R Missense 3/3 - 3
1-152277362-C-T c.10000G>A p.G3334R Missense 3/3 - 3
1-152277365-A-G c.9997T>C p.W3333R Missense 3/3 - 1
1-152277365-A-T c.9997T>A p.W3333R Missense 3/3 - 1
1-152277371-T-C c.9991A>G p.R3331G Missense 3/3 - 1
1-152277373-C-G c.9989G>C p.S3330T Missense 3/3 - 2
1-152277375-G-C c.9987C>G p.D3329E Missense 3/3 - 5
1-152277375-G-T c.9987C>A p.D3329E Missense 3/3 - 3
1-152277377-C-G c.9985G>C p.D3329H Missense 3/3 - 2
1-152277379-C-G c.9983G>C p.R3328T Missense 3/3 - 1
1-152277379-C-T c.9983G>A p.R3328K Missense 3/3 - 1
1-152277384-T-A c.9978A>T p.A3326= Synonymous 3/3 - 1
1-152277384-T-C c.9978A>G p.A3326= Synonymous 3/3 - 1
1-152277384-T-G c.9978A>C p.A3326= Synonymous 3/3 - 1
1-152277388-G-C c.9974C>G p.S3325C Missense 3/3 - 2
1-152277391-G-A c.9971C>T p.S3324L Missense 3/3 - 2
1-152277391-G-C c.9971C>G p.S3324* Nonsense 3/3 - 1
1-152277391-G-T c.9971C>A p.S3324* Nonsense 3/3 - 1
1-152277396-T-C c.9966A>G p.Q3322= Synonymous 3/3 - 18
1-152277401-C-T c.9961G>A p.G3321R Missense 3/3 - 2
1-152277402-A-C c.9960T>G p.R3320= Synonymous 3/3 - 1
1-152277402-A-G c.9960T>C p.R3320= Synonymous 3/3 - 2
1-152277402-A-T c.9960T>A p.R3320= Synonymous 3/3 - 1
1-152277403-C-T c.9959G>A p.R3320H Missense 3/3 - 2
1-152277404-G-A c.9958C>T p.R3320C Missense 3/3 - 9
1-152277405-C-A c.9957G>T p.P3319= Synonymous 3/3 - 2
1-152277405-C-G c.9957G>C p.P3319= Synonymous 3/3 - 2
1-152277405-C-T c.9957G>A p.P3319= Synonymous 3/3 - 4
1-152277407-G-A c.9955C>T p.P3319S Missense 3/3 - 3
1-152277410-T-G c.9952A>C p.I3318L Missense 3/3 - 2
1-152277415-G-C c.9947C>G p.S3316* Nonsense 3/3 - 15
1-152277415-G-T c.9947C>A p.S3316* Nonsense 3/3 - 7
1-152277418-T-G c.9944A>C p.H3315P Missense 3/3 - 4
1-152277422-T-A c.9940A>T p.R3314* Nonsense 3/3 - 2
1-152277424-G-C c.9938C>G p.S3313C Missense 3/3 - 1
1-152277425-A-C c.9937T>G p.S3313A Missense 3/3 - 1
1-152277427-C-T c.9935G>A p.S3312N Missense 3/3 - 2
1-152277431-C-G c.9931G>C p.D3311H Missense 3/3 - 3
1-152277434-C-T c.9928G>A p.A3310T Missense 3/3 - 1
1-152277443-G-T c.9919C>A p.Q3307K Missense 3/3 - 3
1-152277448-C-T c.9914G>A p.R3305H Missense 3/3 - 7
1-152277449-G-A c.9913C>T p.R3305C Missense 3/3 - 2
1-152277449-G-T c.9913C>A p.R3305S Missense 3/3 - 2
1-152277450-G-A c.9912C>T p.S3304= Synonymous 3/3 - 3
1-152277450-G-C c.9912C>G p.S3304= Synonymous 3/3 - 2
1-152277450-G-T c.9912C>A p.S3304= Synonymous 3/3 - 3
1-152277454-C-T c.9908G>A p.G3303E Missense 3/3 - 3
1-152277455-C-G c.9907G>C p.G3303R Missense 3/3 - 3
1-152277455-C-T c.9907G>A p.G3303R Missense 3/3 - 5
1-152277456-G-A c.9906C>T p.H3302= Synonymous 3/3 - 4
1-152277456-G-C c.9906C>G p.H3302Q Missense 3/3 - 1
1-152277456-G-T c.9906C>A p.H3302Q Missense 3/3 - 1
1-152277460-C-G c.9902G>C p.R3301T Missense 3/3 - 1
1-152277460-C-T c.9902G>A p.R3301K Missense 3/3 - 1
1-152277462-C-T c.9900G>A p.E3300= Synonymous 3/3 - 1
1-152277468-CTGG-C c.9892_9894del p.P3298del InFrameDeletion 3/3 - 1
1-152277470-G-C c.9892C>G p.P3298A Missense 3/3 - 2
1-152277472-C-A c.9890G>T p.S3297I Missense 3/3 - 3
1-152277473-T-G c.9889A>C p.S3297R Missense 3/3 - 1
1-152277475-G-A c.9887C>T p.S3296L Missense 3/3 - 1
1-152277475-G-C c.9887C>G p.S3296* Nonsense 3/3 - 5
1-152277475-G-T c.9887C>A p.S3296* Nonsense 3/3 - 10
1-152277477-T-C c.9885A>G p.R3295= Synonymous 3/3 - 1
1-152277479-T-G c.9883A>C p.R3295= Synonymous 3/3 - 1
1-152277481-G-A c.9881C>T p.A3294V Missense 3/3 - 3
1-152277485-G-A c.9877C>T p.Q3293* Nonsense 3/3 - 1
1-152277485-G-C c.9877C>G p.Q3293E Missense 3/3 - 1
1-152277486-T-A c.9876A>T p.E3292D Missense 3/3 - 1
1-152277486-T-G c.9876A>C p.E3292D Missense 3/3 - 1
1-152277489-A-G c.9873T>C p.H3291= Synonymous 3/3 - 1
1-152277499-G-A c.9863C>T p.A3288V Missense 3/3 - 1
1-152277499-G-T c.9863C>A p.A3288E Missense 3/3 - 1
1-152277502-G-A c.9860C>T p.A3287V Missense 3/3 - 2
1-152277503-C-T c.9859G>A p.A3287T Missense 3/3 - 2
1-152277505-T-A c.9857A>T p.Q3286L Missense 3/3 - 3
1-152277506-G-A c.9856C>T p.Q3286* Nonsense 3/3 - 1
1-152277508-C-T c.9854G>A p.G3285E Missense 3/3 - 6
1-152277509-C-A c.9853G>T p.G3285* Nonsense 3/3 - 1
1-152277512-C-G c.9850G>C p.G3284R Missense 3/3 - 4
1-152277514-G-A c.9848C>T p.S3283F Missense 3/3 - 3
1-152277516-G-A c.9846C>T p.S3282= Synonymous 3/3 - 5
1-152277516-G-C c.9846C>G p.S3282= Synonymous 3/3 - 1
1-152277516-G-T c.9846C>A p.S3282= Synonymous 3/3 - 1
1-152277524-C-G c.9838G>C p.E3280Q Missense 3/3 - 6
1-152277524-C-T c.9838G>A p.E3280K Missense 3/3 - 5
1-152277526-G-C c.9836C>G p.A3279G Missense 3/3 - 1
1-152277527-C-T c.9835G>A p.A3279T Missense 3/3 - 7
1-152277530-G-A c.9832C>T p.H3278Y Missense 3/3 - 3
1-152277533-G-A c.9829C>T p.R3277C Missense 3/3 - 5
1-152277536-T-A c.9826A>T p.T3276S Missense 3/3 - 1
1-152277550-G-C c.9812C>G p.S3271C Missense 3/3 - 2
1-152277550-G-T c.9812C>A p.S3271Y Missense 3/3 - 1
1-152277552-G-A c.9810C>T p.R3270= Synonymous 3/3 - 2
1-152277552-G-C c.9810C>G p.R3270= Synonymous 3/3 - 2
1-152277552-G-T c.9810C>A p.R3270= Synonymous 3/3 - 2
1-152277553-C-A c.9809G>T p.R3270L Missense 3/3 - 1
1-152277553-C-T c.9809G>A p.R3270H Missense 3/3 - 10
1-152277554-G-A c.9808C>T p.R3270C Missense 3/3 - 9
1-152277558-T-A c.9804A>T p.A3268= Synonymous 3/3 - 3
1-152277558-T-C c.9804A>G p.A3268= Synonymous 3/3 - 2
1-152277558-T-G c.9804A>C p.A3268= Synonymous 3/3 - 2
1-152277559-G-A c.9803C>T p.A3268V Missense 3/3 - 3
1-152277559-G-T c.9803C>A p.A3268E Missense 3/3 - 4
1-152277560-C-A c.9802G>T p.A3268S Missense 3/3 - 1
1-152277562-G-A c.9800C>T p.S3267F Missense 3/3 - 2
1-152277562-G-C c.9800C>G p.S3267C Missense 3/3 - 1
1-152277563-A-G c.9799T>C p.S3267P Missense 3/3 - 1
1-152277564-G-T c.9798C>A p.H3266Q Missense 3/3 - 1
1-152277569-C-G c.9793G>C p.G3265R Missense 3/3 - 5
1-152277569-C-T c.9793G>A p.G3265R Missense 3/3 - 7
1-152277570-G-A c.9792C>T p.H3264= Synonymous 3/3 - 3
1-152277574-C-A c.9788G>T p.G3263V Missense 3/3 - 1
1-152277574-C-T c.9788G>A p.G3263D Missense 3/3 - 3
1-152277575-C-T c.9787G>A p.G3263S Missense 3/3 - 1
1-152277576-G-A c.9786C>T p.A3262= Synonymous 3/3 - 3
1-152277576-G-C c.9786C>G p.A3262= Synonymous 3/3 - 1
1-152277576-G-T c.9786C>A p.A3262= Synonymous 3/3 - 3
1-152277577-GC-CA c.9784_9785delinsTG p.A3262C Missense 3/3 - 1
1-152277578-C-T c.9784G>A p.A3262T Missense 3/3 - 2
1-152277579-T-C c.9783A>G p.R3261= Synonymous 3/3 - 1
1-152277581-T-G c.9781A>C p.R3261= Synonymous 3/3 - 1
1-152277582-G-GT c.9779dup p.D3260Efs*33 Frameshift 3/3 - 1
1-152277587-C-G c.9775G>C p.E3259Q Missense 3/3 - 1
1-152277587-C-T c.9775G>A p.E3259K Missense 3/3 - 9
1-152277588-G-A c.9774C>T p.H3258= Synonymous 3/3 - 1
1-152277588-G-T c.9774C>A p.H3258Q Missense 3/3 - 1
1-152277593-G-C c.9769C>G p.H3257D Missense 3/3 - 1
1-152277594-G-A c.9768C>T p.S3256= Synonymous 3/3 - 2
1-152277594-G-C c.9768C>G p.S3256= Synonymous 3/3 - 1
1-152277594-G-T c.9768C>A p.S3256= Synonymous 3/3 - 1
1-152277598-C-G c.9764G>C p.R3255T Missense 3/3 - 2
1-152277601-G-T c.9761C>A p.P3254H Missense 3/3 - 6
1-152277605-G-A c.9757C>T p.H3253Y Missense 3/3 - 1
1-152277613-C-A c.9749G>T p.G3250V Missense 3/3 - 1
1-152277613-C-T c.9749G>A p.G3250D Missense 3/3 - 1
1-152277614-C-T c.9748G>A p.G3250S Missense 3/3 - 1
1-152277615-G-A c.9747C>T p.H3249= Synonymous 3/3 - 2
1-152277615-G-C c.9747C>G p.H3249Q Missense 3/3 - 1
1-152277615-G-T c.9747C>A p.H3249Q Missense 3/3 - 2
1-152277617-G-C c.9745C>G p.H3249D Missense 3/3 - 1
1-152277622-G-C c.9740C>G p.S3247* Nonsense 3/3 - 86
1-152277622-G-T c.9740C>A p.S3247* Nonsense 3/3 - 115
1-152277624-C-G c.9738G>C p.Q3246H Missense 3/3 - 1
1-152277625-T-A c.9737A>T p.Q3246L Missense 3/3 - 1
1-152277630-C-A c.9732G>T p.Q3244H Missense 3/3 - 3
1-152277630-C-G c.9732G>C p.Q3244H Missense 3/3 - 1
1-152277630-C-T c.9732G>A p.Q3244= Synonymous 3/3 - 1
1-152277634-A-G c.9728T>C p.V3243A Missense 3/3 - 1
1-152277637-G-A c.9725C>T p.S3242F Missense 3/3 - 2
1-152277640-C-A c.9722G>T p.G3241V Missense 3/3 - 1
1-152277639-TC-T c.9722del p.G3241Dfs*150 Frameshift 3/3 - 1
1-152277641-C-A c.9721G>T p.G3241* Nonsense 3/3 - 3
1-152277643-C-T c.9719G>A p.R3240H Missense 3/3 - 6
1-152277644-G-A c.9718C>T p.R3240C Missense 3/3 - 7
1-152277645-A-T c.9717T>A p.H3239Q Missense 3/3 - 1
1-152277646-T-C c.9716A>G p.H3239R Missense 3/3 - 1
1-152277648-G-A c.9714C>T p.N3238= Synonymous 3/3 - 1
1-152277652-C-T c.9710G>A p.R3237K Missense 3/3 - 2
1-152277654-G-A c.9708C>T p.S3236= Synonymous 3/3 - 1
1-152277654-G-C c.9708C>G p.S3236= Synonymous 3/3 - 1
1-152277654-G-T c.9708C>A p.S3236= Synonymous 3/3 - 3
1-152277655-G-A c.9707C>T p.S3236F Missense 3/3 - 6
1-152277657-A-G c.9705T>C p.A3235= Synonymous 3/3 - 1
1-152277661-G-T c.9701C>A p.S3234Y Missense 3/3 - 1
1-152277663-C-A c.9699G>T p.G3233= Synonymous 3/3 - 1
1-152277663-C-G c.9699G>C p.G3233= Synonymous 3/3 - 1
1-152277663-C-T c.9699G>A p.G3233= Synonymous 3/3 - 1
1-152277667-G-A c.9695C>T p.S3232F Missense 3/3 - 5
1-152277667-G-T c.9695C>A p.S3232Y Missense 3/3 - 1
1-152277671-A-G c.9691T>C p.W3231R Missense 3/3 - 4
1-152277671-A-T c.9691T>A p.W3231R Missense 3/3 - 1
1-152277679-G-C c.9683C>G p.S3228C Missense 3/3 - 3
1-152277687-TG-AA c.9674_9675delinsTT p.S3225F Missense 3/3 - 1
1-152277690-A-G c.9672T>C p.H3224= Synonymous 3/3 - 1
1-152277693-TCC-GCT c.9667_9669delinsAGC p.G3223S Missense 3/3 - 1
1-152277694-C-A c.9668G>T p.G3223V Missense 3/3 - 3
1-152277696-C-T c.9666G>A p.E3222= Synonymous 3/3 - 1
1-152277698-C-G c.9664G>C p.E3222Q Missense 3/3 - 3
1-152277704-C-G c.9658G>C p.D3220H Missense 3/3 - 3
1-152277706-C-T c.9656G>A p.S3219N Missense 3/3 - 1
1-152277707-T-C c.9655A>G p.S3219G Missense 3/3 - 1
1-152277708-G-C c.9654C>G p.D3218E Missense 3/3 - 4
1-152277708-G-T c.9654C>A p.D3218E Missense 3/3 - 3
1-152277717-C-A c.9645G>T p.V3215= Synonymous 3/3 - 13
1-152277717-C-G c.9645G>C p.V3215= Synonymous 3/3 - 2
1-152277717-C-T c.9645G>A p.V3215= Synonymous 3/3 - 10
1-152277724-G-A c.9638C>T p.S3213F Missense 3/3 - 4
1-152277727-C-T c.9635G>A p.G3212E Missense 3/3 - 3
1-152277728-C-G c.9634G>C p.G3212R Missense 3/3 - 1
1-152277728-C-T c.9634G>A p.G3212R Missense 3/3 - 1
1-152277729-C-T c.9633G>A p.Q3211= Synonymous 3/3 - 2
1-152277731-G-A c.9631C>T p.Q3211* Nonsense 3/3 - 2
1-152277733-C-T c.9629G>A p.R3210H Missense 3/3 - 2
1-152277734-G-A c.9628C>T p.R3210C Missense 3/3 - 5
1-152277735-C-T c.9627G>A p.R3209= Synonymous 3/3 - 4
1-152277737-T-G c.9625A>C p.R3209= Synonymous 3/3 - 2
1-152277738-G-C c.9624C>G p.S3208R Missense 3/3 - 1
1-152277740-T-C c.9622A>G p.S3208G Missense 3/3 - 1
1-152277742-C-G c.9620G>C p.R3207T Missense 3/3 - 1
1-152277744-C-T c.9618G>A p.R3206= Synonymous 3/3 - 1
1-152277749-A-G c.9613T>C p.S3205P Missense 3/3 - 3
1-152277752-C-A c.9610G>T p.G3204W Missense 3/3 - 1
1-152277753-C-A c.9609G>T p.E3203D Missense 3/3 - 1
1-152277753-C-G c.9609G>C p.E3203D Missense 3/3 - 3
1-152277755-C-T c.9607G>A p.E3203K Missense 3/3 - 1
1-152277757-G-C c.9605C>G p.S3202* Nonsense 3/3 - 1
1-152277757-G-T c.9605C>A p.S3202* Nonsense 3/3 - 1
1-152277763-C-T c.9599G>A p.G3200E Missense 3/3 - 1
1-152277765-C-A c.9597G>T p.Q3199H Missense 3/3 - 2
1-152277765-C-G c.9597G>C p.Q3199H Missense 3/3 - 2
1-152277769-A-C c.9593T>G p.V3198G Missense 3/3 - 6
1-152277770-C-T c.9592G>A p.V3198I Missense 3/3 - 6
1-152277771-T-A c.9591A>T p.A3197= Synonymous 3/3 - 1
1-152277771-T-C c.9591A>G p.A3197= Synonymous 3/3 - 1
1-152277771-T-G c.9591A>C p.A3197= Synonymous 3/3 - 1
1-152277772-G-A c.9590C>T p.A3197V Missense 3/3 - 2
1-152277775-T-A c.9587A>T p.Q3196L Missense 3/3 - 1
1-152277782-G-T c.9580C>A p.H3194N Missense 3/3 - 3
1-152277785-T-C c.9577A>G p.R3193G Missense 3/3 - 5
1-152277787-G-C c.9575C>G p.S3192C Missense 3/3 - 1
1-152277789-G-A c.9573C>T p.I3191= Synonymous 3/3 - 1
1-152277789-G-T c.9573C>A p.I3191= Synonymous 3/3 - 1
1-152277790-A-C c.9572T>G p.I3191S Missense 3/3 - 3
1-152277790-A-G c.9572T>C p.I3191T Missense 3/3 - 1
1-152277794-C-T c.9568G>A p.D3190N Missense 3/3 - 1
1-152277797-C-A c.9565G>T p.A3189S Missense 3/3 - 1
1-152277797-C-G c.9565G>C p.A3189P Missense 3/3 - 3
1-152277798-A-C c.9564T>G p.H3188Q Missense 3/3 - 1
1-152277798-A-T c.9564T>A p.H3188Q Missense 3/3 - 1
1-152277799-T-C c.9563A>G p.H3188R Missense 3/3 - 1
1-152277800-G-A c.9562C>T p.H3188Y Missense 3/3 - 3
1-152277802-G-C c.9560C>G p.T3187S Missense 3/3 - 1
1-152277803-T-A c.9559A>T p.T3187S Missense 3/3 - 2
1-152277806-A-C c.9556T>G p.S3186A Missense 3/3 - 1
1-152277808-AG-A c.9554del p.A3185Vfs*31 Frameshift 3/3 - 1
1-152277812-C-T c.9550G>A p.E3184K Missense 3/3 - 4
1-152277816-G-A c.9546C>T p.H3182= Synonymous 3/3 - 3
1-152277820-C-T c.9542G>A p.R3181H Missense 3/3 - 1
1-152277821-G-A c.9541C>T p.R3181C Missense 3/3 - 1
1-152277820-CGT-C c.9540_9541del p.R3181Sfs*3 Frameshift 3/3 - 1
1-152277822-T-A c.9540A>T p.S3180= Synonymous 3/3 - 1
1-152277822-T-C c.9540A>G p.S3180= Synonymous 3/3 - 10
1-152277822-T-G c.9540A>C p.S3180= Synonymous 3/3 - 10
1-152277823-G-A c.9539C>T p.S3180L Missense 3/3 - 4
1-152277824-A-G c.9538T>C p.S3180P Missense 3/3 - 1
1-152277825-C-A c.9537G>T p.V3179= Synonymous 3/3 - 1
1-152277825-C-G c.9537G>C p.V3179= Synonymous 3/3 - 1
1-152277825-C-T c.9537G>A p.V3179= Synonymous 3/3 - 1
1-152277826-A-C c.9536T>G p.V3179G Missense 3/3 - 21
1-152277827-C-A c.9535G>T p.V3179L Missense 3/3 - 1
1-152277827-C-G c.9535G>C p.V3179L Missense 3/3 - 3
1-152277827-C-T c.9535G>A p.V3179M Missense 3/3 - 1
1-152277829-G-A c.9533C>T p.S3178L Missense 3/3 - 3
1-152277833-G-T c.9529C>A p.H3177N Missense 3/3 - 2
1-152277838-G-A c.9524C>T p.S3175F Missense 3/3 - 7
1-152277840-G-C c.9522C>G p.S3174R Missense 3/3 - 1
1-152277840-G-T c.9522C>A p.S3174R Missense 3/3 - 1
1-152277842-T-G c.9520A>C p.S3174R Missense 3/3 - 1
1-152277841-C-A c.9521G>T p.S3174I Missense 3/3 - 1
1-152277842-T-C c.9520A>G p.S3174G Missense 3/3 - 3
1-152277845-C-A c.9517G>T p.D3173Y Missense 3/3 - 1
1-152277847-C-T c.9515G>A p.G3172E Missense 3/3 - 2
1-152277854-G-T c.9508C>A p.Q3170K Missense 3/3 - 4
1-152277860-C-G c.9502G>C p.E3168Q Missense 3/3 - 1
1-152277860-C-T c.9502G>A p.E3168K Missense 3/3 - 1
1-152277861-A-G c.9501T>C p.N3167= Synonymous 3/3 - 2
1-152277864-A-C c.9498T>G p.R3166= Synonymous 3/3 - 1
1-152277864-A-G c.9498T>C p.R3166= Synonymous 3/3 - 3
1-152277864-A-T c.9498T>A p.R3166= Synonymous 3/3 - 1
1-152277865-C-T c.9497G>A p.R3166H Missense 3/3 - 3
1-152277866-G-A c.9496C>T p.R3166C Missense 3/3 - 1
1-152277866-G-T c.9496C>A p.R3166S Missense 3/3 - 2
1-152277874-C-G c.9488G>C p.R3163T Missense 3/3 - 2
1-152277881-C-T c.9481G>A p.A3161T Missense 3/3 - 1
1-152277884-T-C c.9478A>G p.S3160G Missense 3/3 - 2
1-152277884-T-G c.9478A>C p.S3160R Missense 3/3 - 2
1-152277889-G-A c.9473C>T p.S3158F Missense 3/3 - 6
1-152277892-C-T c.9470G>A p.G3157E Missense 3/3 - 2
1-152277898-T-A c.9464A>T p.Q3155L Missense 3/3 - 2
1-152277899-TG-T c.9463del p.Q3155Sfs*61 Frameshift 3/3 - 2
1-152277902-C-A c.9460G>T p.G3154W Missense 3/3 - 1
1-152277903-A-T c.9459T>A p.R3153= Synonymous 3/3 - 1
1-152277904-C-A c.9458G>T p.R3153L Missense 3/3 - 2
1-152277905-G-A c.9457C>T p.R3153C Missense 3/3 - 6
1-152277906-G-A c.9456C>T p.S3152= Synonymous 3/3 - 1
1-152277907-G-A c.9455C>T p.S3152F Missense 3/3 - 1
1-152277908-A-T c.9454T>A p.S3152T Missense 3/3 - 2
1-152277910-G-A c.9452C>T p.A3151V Missense 3/3 - 1
1-152277911-C-A c.9451G>T p.A3151S Missense 3/3 - 1
1-152277911-C-T c.9451G>A p.A3151T Missense 3/3 - 1
1-152277914-C-G c.9448G>C p.D3150H Missense 3/3 - 2
1-152277916-G-A c.9446C>T p.S3149F Missense 3/3 - 1
1-152277922-C-T c.9440G>A p.G3147E Missense 3/3 - 1
1-152277924-C-G c.9438G>C p.Q3146H Missense 3/3 - 1
1-152277924-C-T c.9438G>A p.Q3146= Synonymous 3/3 - 2
1-152277929-A-G c.9433T>C p.S3145P Missense 3/3 - 2
1-152277935-T-C c.9427A>G p.T3143A Missense 3/3 - 1
1-152277952-C-G c.9410G>C p.G3137A Missense 3/3 - 1
1-152277966-G-C c.9396C>G p.S3132R Missense 3/3 - 1
1-152277966-G-T c.9396C>A p.S3132R Missense 3/3 - 1
1-152277968-T-G c.9394A>C p.S3132R Missense 3/3 - 1
1-152277967-C-A c.9395G>T p.S3132I Missense 3/3 - 1
1-152277980-G-T c.9382C>A p.H3128N Missense 3/3 - 4
1-152277986-G-A c.9376C>T p.H3126Y Missense 3/3 - 1
1-152277990-G-C c.9372C>G p.Y3124* Nonsense 3/3 - 1
1-152277990-G-T c.9372C>A p.Y3124* Nonsense 3/3 - 1
1-152277991-T-A c.9371A>T p.Y3124F Missense 3/3 - 1
1-152277993-C-T c.9369G>A p.G3123= Synonymous 3/3 - 1
1-152277994-C-T c.9368G>A p.G3123E Missense 3/3 - 1
1-152277995-C-A c.9367G>T p.G3123W Missense 3/3 - 1
1-152278000-C-A c.9362G>T p.R3121M Missense 3/3 - 7
1-152278006-C-A c.9356G>T p.G3119V Missense 3/3 - 1
1-152278009-C-G c.9353G>C p.R3118T Missense 3/3 - 3
1-152278012-C-A c.9350G>T p.S3117I Missense 3/3 - 4
1-152278015-G-C c.9347C>G p.S3116* Nonsense 3/3 - 1
1-152278020-C-A c.9342G>T p.P3114= Synonymous 3/3 - 2
1-152278020-C-G c.9342G>C p.P3114= Synonymous 3/3 - 2
1-152278020-C-T c.9342G>A p.P3114= Synonymous 3/3 - 2
1-152278021-G-T c.9341C>A p.P3114Q Missense 3/3 - 2
1-152278026-T-A c.9336A>T p.G3112= Synonymous 3/3 - 2
1-152278026-T-C c.9336A>G p.G3112= Synonymous 3/3 - 2
1-152278026-T-G c.9336A>C p.G3112= Synonymous 3/3 - 2
1-152278027-C-T c.9335G>A p.G3112E Missense 3/3 - 2
1-152278031-G-A c.9331C>T p.R3111C Missense 3/3 - 3
1-152278037-T-C c.9325A>G p.T3109A Missense 3/3 - 1
1-152278046-C-T c.9316G>A p.G3106S Missense 3/3 - 1
1-152278047-G-A c.9315C>T p.Y3105= Synonymous 3/3 - 7
1-152278047-G-C c.9315C>G p.Y3105* Nonsense 3/3 - 1
1-152278047-G-T c.9315C>A p.Y3105* Nonsense 3/3 - 1
1-152278049-A-C c.9313T>G p.Y3105D Missense 3/3 - 15
1-152278051-T-C c.9311A>G p.Q3104R Missense 3/3 - 1
1-152278052-G-T c.9310C>A p.Q3104K Missense 3/3 - 1
1-152278055-A-T c.9307T>A p.S3103T Missense 3/3 - 1
1-152278057-G-T c.9305C>A p.A3102E Missense 3/3 - 1
1-152278060-G-C c.9302C>G p.S3101* Nonsense 3/3 - 5
1-152278060-G-T c.9302C>A p.S3101* Nonsense 3/3 - 4
1-152278061-A-T c.9301T>A p.S3101T Missense 3/3 - 1
1-152278062-G-C c.9300C>G p.H3100Q Missense 3/3 - 1
1-152278062-G-T c.9300C>A p.H3100Q Missense 3/3 - 1
1-152278086-C-A c.9276G>T p.E3092D Missense 3/3 - 2
1-152278086-C-G c.9276G>C p.E3092D Missense 3/3 - 1
1-152278088-C-T c.9274G>A p.E3092K Missense 3/3 - 4
1-152278091-G-A c.9271C>T p.H3091Y Missense 3/3 - 1
1-152278093-C-T c.9269G>A p.R3090H Missense 3/3 - 5
1-152278095-G-A c.9267C>T p.S3089= Synonymous 3/3 - 1
1-152278100-C-G c.9262G>C p.G3088R Missense 3/3 - 1
1-152278100-C-T c.9262G>A p.G3088R Missense 3/3 - 1
1-152278109-C-G c.9253G>C p.G3085R Missense 3/3 - 5
1-152278109-C-T c.9253G>A p.G3085R Missense 3/3 - 4
1-152278111-C-G c.9251G>C p.R3084T Missense 3/3 - 1
1-152278112-T-C c.9250A>G p.R3084G Missense 3/3 - 1
1-152278126-G-A c.9236C>T p.T3079M Missense 3/3 - 1
1-152278127-T-C c.9235A>G p.T3079A Missense 3/3 - 1
1-152278135-T-A c.9227A>T p.H3076L Missense 3/3 - 1
1-152278154-C-A c.9208G>T p.E3070* Nonsense 3/3 - 2
1-152278154-C-T c.9208G>A p.E3070K Missense 3/3 - 2
1-152278164-C-A c.9198G>T p.V3066= Synonymous 3/3 - 1
1-152278164-C-G c.9198G>C p.V3066= Synonymous 3/3 - 1
1-152278164-C-T c.9198G>A p.V3066= Synonymous 3/3 - 1
1-152278180-GA-AG c.9181_9182delinsCT p.S3061L Missense 3/3 - 1
1-152278183-C-A c.9179G>T p.G3060V Missense 3/3 - 1
1-152278184-C-G c.9178G>C p.G3060R Missense 3/3 - 1
1-152278184-C-T c.9178G>A p.G3060R Missense 3/3 - 1
1-152278186-G-C c.9176C>G p.S3059* Nonsense 3/3 - 1
1-152278186-G-T c.9176C>A p.S3059* Nonsense 3/3 - 2
1-152278188-A-T c.9174T>A p.H3058Q Missense 3/3 - 1
1-152278193-C-G c.9169G>C p.G3057R Missense 3/3 - 1
1-152278193-C-T c.9169G>A p.G3057R Missense 3/3 - 2
1-152278209-C-A c.9153G>T p.R3051= Synonymous 3/3 - 1
1-152278212-G-A c.9150C>T p.G3050= Synonymous 3/3 - 1
1-152278212-G-C c.9150C>G p.G3050= Synonymous 3/3 - 1
1-152278212-G-T c.9150C>A p.G3050= Synonymous 3/3 - 1
1-152278216-C-A c.9146G>T p.R3049L Missense 3/3 - 1
1-152278233-G-A c.9129C>T p.S3043= Synonymous 3/3 - 1
1-152278236-C-T c.9126G>A p.Q3042= Synonymous 3/3 - 1
1-152278238-G-T c.9124C>A p.Q3042K Missense 3/3 - 1
1-152278245-G-A c.9117C>T p.S3039= Synonymous 3/3 - 1
1-152278245-G-C c.9117C>G p.S3039= Synonymous 3/3 - 1
1-152278245-G-T c.9117C>A p.S3039= Synonymous 3/3 - 2
1-152278247-A-G c.9115T>C p.S3039P Missense 3/3 - 2
1-152278256-G-A c.9106C>T p.Q3036* Nonsense 3/3 - 1
1-152278262-G-T c.9100C>A p.H3034N Missense 3/3 - 2
1-152278277-G-A c.9085C>T p.Q3029* Nonsense 3/3 - 2
1-152278283-C-A c.9079G>T p.D3027Y Missense 3/3 - 1
1-152278285-G-C c.9077C>G p.S3026* Nonsense 3/3 - 1
1-152278290-T-A c.9072A>T p.E3024D Missense 3/3 - 1
1-152278290-T-G c.9072A>C p.E3024D Missense 3/3 - 1
1-152278292-C-T c.9070G>A p.E3024K Missense 3/3 - 2
1-152278298-G-C c.9064C>G p.H3022D Missense 3/3 - 1
1-152278300-C-T c.9062G>A p.G3021E Missense 3/3 - 1
1-152278302-C-T c.9060G>A p.E3020= Synonymous 3/3 - 1
1-152278306-T-C c.9056A>G p.N3019S Missense 3/3 - 3
1-152278310-C-T c.9052G>A p.D3018N Missense 3/3 - 1
1-152278315-G-T c.9047C>A p.A3016D Missense 3/3 - 1
1-152278321-C-A c.9041G>T p.S3014I Missense 3/3 - 1
1-152278330-T-G c.9032A>C p.Y3011S Missense 3/3 - 6
1-152278334-C-G c.9028G>C p.G3010R Missense 3/3 - 1
1-152278334-C-T c.9028G>A p.G3010R Missense 3/3 - 1
1-152278336-C-T c.9026G>A p.R3009Q Missense 3/3 - 1
1-152278335-T-A c.9027A>T p.R3009= Synonymous 3/3 - 1
1-152278335-T-C c.9027A>G p.R3009= Synonymous 3/3 - 1
1-152278335-T-G c.9027A>C p.R3009= Synonymous 3/3 - 1
1-152278337-G-A c.9025C>T p.R3009* Nonsense 3/3 - 1
1-152278337-G-T c.9025C>A p.R3009= Synonymous 3/3 - 2
1-152278347-G-C c.9015C>G p.D3005E Missense 3/3 - 2
1-152278347-G-T c.9015C>A p.D3005E Missense 3/3 - 2
1-152278352-T-C c.9010A>G p.R3004G Missense 3/3 - 1
1-152278357-G-A c.9005C>T p.A3002V Missense 3/3 - 2
1-152278359-A-T c.9003T>A p.S3001= Synonymous 3/3 - 1
1-152278366-G-T c.8996C>A p.A2999D Missense 3/3 - 1
1-152278378-C-T c.8984G>A p.G2995E Missense 3/3 - 1
1-152278381-A-G c.8981T>C p.I2994T Missense 3/3 - 1
1-152278391-G-C c.8971C>G p.H2991D Missense 3/3 - 1
1-152278396-G-T c.8966C>A p.S2989Y Missense 3/3 - 1
1-152278400-T-C c.8962A>G p.S2988G Missense 3/3 - 1
1-152278409-A-T c.8953T>A p.S2985T Missense 3/3 - 8
1-152278413-C-A c.8949G>T p.Q2983H Missense 3/3 - 1
1-152278413-C-G c.8949G>C p.Q2983H Missense 3/3 - 1
1-152278416-G-C c.8946C>G p.H2982Q Missense 3/3 - 1
1-152278416-G-T c.8946C>A p.H2982Q Missense 3/3 - 1
1-152278424-A-T c.8938T>A p.S2980T Missense 3/3 - 2
1-152278427-C-G c.8935G>C p.G2979R Missense 3/3 - 1
1-152278427-C-T c.8935G>A p.G2979R Missense 3/3 - 2
1-152278434-T-A c.8928A>T p.E2976D Missense 3/3 - 5
1-152278434-T-C c.8928A>G p.E2976= Synonymous 3/3 - 2
1-152278434-T-G c.8928A>C p.E2976D Missense 3/3 - 10
1-152278438-C-T c.8924G>A p.G2975E Missense 3/3 - 1
1-152278442-C-G c.8920G>C p.A2974P Missense 3/3 - 1
1-152278442-C-T c.8920G>A p.A2974T Missense 3/3 - 1
1-152278447-G-A c.8915C>T p.S2972L Missense 3/3 - 1
1-152278448-A-C c.8914T>G p.S2972A Missense 3/3 - 1
1-152278450-C-T c.8912G>A p.R2971K Missense 3/3 - 1
1-152278451-T-A c.8911A>T p.R2971* Nonsense 3/3 - 3
1-152278453-G-T c.8909C>A p.A2970E Missense 3/3 - 2
1-152278458-T-A c.8904A>T p.E2968D Missense 3/3 - 1
1-152278458-T-G c.8904A>C p.E2968D Missense 3/3 - 1
1-152278467-T-A c.8895A>T p.S2965= Synonymous 3/3 - 1
1-152278467-T-C c.8895A>G p.S2965= Synonymous 3/3 - 1
1-152278467-T-G c.8895A>C p.S2965= Synonymous 3/3 - 1
1-152278472-C-T c.8890G>A p.A2964T Missense 3/3 - 2
1-152278479-T-A c.8883A>T p.G2961= Synonymous 3/3 - 1
1-152278479-T-C c.8883A>G p.G2961= Synonymous 3/3 - 1
1-152278479-T-G c.8883A>C p.G2961= Synonymous 3/3 - 1
1-152278482-A-C c.8880T>G p.G2960= Synonymous 3/3 - 1
1-152278482-A-G c.8880T>C p.G2960= Synonymous 3/3 - 1
1-152278482-A-T c.8880T>A p.G2960= Synonymous 3/3 - 1
1-152278484-C-T c.8878G>A p.G2960S Missense 3/3 - 3
1-152278489-GA-AG c.8872_8873delinsCT p.S2958L Missense 3/3 - 1
1-152278496-G-C c.8866C>G p.Q2956E Missense 3/3 - 1
1-152278499-T-C c.8863A>G p.T2955A Missense 3/3 - 1
1-152278504-C-G c.8858G>C p.R2953P Missense 3/3 - 1
1-152278504-C-T c.8858G>A p.R2953H Missense 3/3 - 4
1-152278505-G-A c.8857C>T p.R2953C Missense 3/3 - 1
1-152278510-C-T c.8852G>A p.G2951D Missense 3/3 - 1
1-152278514-A-C c.8848T>G p.S2950A Missense 3/3 - 1
1-152278519-C-A c.8843G>T p.R2948I Missense 3/3 - 1
1-152278519-C-G c.8843G>C p.R2948T Missense 3/3 - 1
1-152278520-T-C c.8842A>G p.R2948G Missense 3/3 - 1
1-152278521-G-C c.8841C>G p.S2947= Synonymous 3/3 - 1
1-152278522-G-A c.8840C>T p.S2947F Missense 3/3 - 2
1-152278525-C-T c.8837G>A p.S2946N Missense 3/3 - 1
1-152278526-T-G c.8836A>C p.S2946R Missense 3/3 - 1
1-152278527-G-A c.8835C>T p.D2945= Synonymous 3/3 - 1
1-152278531-G-A c.8831C>T p.A2944V Missense 3/3 - 1
1-152278532-C-T c.8830G>A p.A2944T Missense 3/3 - 1
1-152278533-A-C c.8829T>G p.S2943= Synonymous 3/3 - 1
1-152278533-A-G c.8829T>C p.S2943= Synonymous 3/3 - 1
1-152278533-A-T c.8829T>A p.S2943= Synonymous 3/3 - 2
1-152278534-G-C c.8828C>G p.S2943C Missense 3/3 - 1
1-152278541-C-G c.8821G>C p.G2941R Missense 3/3 - 1
1-152278541-C-T c.8821G>A p.G2941R Missense 3/3 - 1
1-152278542-A-G c.8820T>C p.H2940= Synonymous 3/3 - 1
1-152278554-G-A c.8808C>T p.D2936= Synonymous 3/3 - 2
1-152278555-T-C c.8807A>G p.D2936G Missense 3/3 - 19
1-152278560-T-G c.8802A>C p.Q2934H Missense 3/3 - 3
1-152278559-C-CT c.8802dup p.E2935Rfs*34 Frameshift 3/3 - 1
1-152278563-A-G c.8799T>C p.H2933= Synonymous 3/3 - 1
1-152278565-G-A c.8797C>T p.H2933Y Missense 3/3 - 1
1-152278572-G-A c.8790C>T p.P2930= Synonymous 3/3 - 4
1-152278572-G-C c.8790C>G p.P2930= Synonymous 3/3 - 3
1-152278572-G-T c.8790C>A p.P2930= Synonymous 3/3 - 4
1-152278573-G-T c.8789C>A p.P2930H Missense 3/3 - 1
1-152278574-G-A c.8788C>T p.P2930S Missense 3/3 - 1
1-152278580-T-A c.8782A>T p.R2928* Nonsense 3/3 - 2
1-152278580-T-C c.8782A>G p.R2928G Missense 3/3 - 1
1-152278580-T-G c.8782A>C p.R2928= Synonymous 3/3 - 1
1-152278585-C-T c.8777G>A p.G2926D Missense 3/3 - 1
1-152278587-A-C c.8775T>G p.D2925E Missense 3/3 - 3
1-152278587-A-T c.8775T>A p.D2925E Missense 3/3 - 2
1-152278589-C-G c.8773G>C p.D2925H Missense 3/3 - 1
1-152278589-C-T c.8773G>A p.D2925N Missense 3/3 - 4
1-152278594-A-C c.8768T>G p.L2923R Missense 3/3 - 2
1-152278594-A-G c.8768T>C p.L2923P Missense 3/3 - 1
1-152278597-T-A c.8765A>T p.Q2922L Missense 3/3 - 1
1-152278598-G-A c.8764C>T p.Q2922* Nonsense 3/3 - 1
1-152278598-G-T c.8764C>A p.Q2922K Missense 3/3 - 1
1-152278601-C-G c.8761G>C p.E2921Q Missense 3/3 - 2
1-152278601-C-T c.8761G>A p.E2921K Missense 3/3 - 1
1-152278603-T-C c.8759A>G p.Q2920R Missense 3/3 - 1
1-152278606-G-A c.8756C>T p.A2919V Missense 3/3 - 2
1-152278606-G-C c.8756C>G p.A2919G Missense 3/3 - 1
1-152278609-G-C c.8753C>G p.S2918C Missense 3/3 - 2
1-152278612-C-A c.8750G>T p.G2917V Missense 3/3 - 2
1-152278615-T-C c.8747A>G p.H2916R Missense 3/3 - 4
1-152278616-G-C c.8746C>G p.H2916D Missense 3/3 - 1
1-152278618-T-C c.8744A>G p.H2915R Missense 3/3 - 2
1-152278619-G-T c.8743C>A p.H2915N Missense 3/3 - 2
1-152278623-T-A c.8739A>T p.R2913S Missense 3/3 - 4
1-152278623-T-G c.8739A>C p.R2913S Missense 3/3 - 6
1-152278624-C-A c.8738G>T p.R2913I Missense 3/3 - 1
1-152278627-G-A c.8735C>T p.S2912F Missense 3/3 - 2
1-152278627-G-C c.8735C>G p.S2912C Missense 3/3 - 2
1-152278628-A-C c.8734T>G p.S2912A Missense 3/3 - 4
1-152278630-G-T c.8732C>A p.A2911D Missense 3/3 - 1
1-152278633-G-A c.8729C>T p.S2910F Missense 3/3 - 5
1-152278633-GA-AG c.8728_8729delinsCT p.S2910L Missense 3/3 - 1
1-152278633-G-C c.8729C>G p.S2910C Missense 3/3 - 1
1-152278636-C-T c.8726G>A p.G2909E Missense 3/3 - 2
1-152278637-C-A c.8725G>T p.G2909W Missense 3/3 - 1
1-152278639-G-T c.8723C>A p.S2908Y Missense 3/3 - 1
1-152278642-C-A c.8720G>T p.W2907L Missense 3/3 - 2
1-152278643-A-G c.8719T>C p.W2907R Missense 3/3 - 8
1-152278643-A-T c.8719T>A p.W2907R Missense 3/3 - 5
1-152278647-C-A c.8715G>T p.E2905D Missense 3/3 - 2
1-152278647-C-G c.8715G>C p.E2905D Missense 3/3 - 1
1-152278649-C-G c.8713G>C p.E2905Q Missense 3/3 - 8
1-152278649-C-T c.8713G>A p.E2905K Missense 3/3 - 4
1-152278651-G-A c.8711C>T p.S2904F Missense 3/3 - 1
1-152278652-A-C c.8710T>G p.S2904A Missense 3/3 - 1
1-152278655-C-T c.8707G>A p.D2903N Missense 3/3 - 5
1-152278660-G-C c.8702C>G p.S2901* Nonsense 3/3 - 2
1-152278660-G-T c.8702C>A p.S2901* Nonsense 3/3 - 2
1-152278662-A-G c.8700T>C p.H2900= Synonymous 3/3 - 6
1-152278665-T-A c.8697A>T p.G2899= Synonymous 3/3 - 1
1-152278665-T-C c.8697A>G p.G2899= Synonymous 3/3 - 1
1-152278665-T-G c.8697A>C p.G2899= Synonymous 3/3 - 1
1-152278666-C-A c.8696G>T p.G2899V Missense 3/3 - 2
1-152278666-C-T c.8696G>A p.G2899E Missense 3/3 - 4
1-152278667-C-G c.8695G>C p.G2899R Missense 3/3 - 1
1-152278667-C-T c.8695G>A p.G2899R Missense 3/3 - 2
1-152278670-C-G c.8692G>C p.E2898Q Missense 3/3 - 8
1-152278672-C-T c.8690G>A p.S2897N Missense 3/3 - 6
1-152278676-C-G c.8686G>C p.D2896H Missense 3/3 - 3
1-152278682-C-T c.8680G>A p.D2894N Missense 3/3 - 1
1-152278683-C-A c.8679G>T p.Q2893H Missense 3/3 - 1
1-152278689-C-A c.8673G>T p.V2891= Synonymous 3/3 - 14
1-152278689-C-G c.8673G>C p.V2891= Synonymous 3/3 - 13
1-152278689-C-T c.8673G>A p.V2891= Synonymous 3/3 - 12
1-152278690-A-T c.8672T>A p.V2891E Missense 3/3 - 1
1-152278693-C-G c.8669G>C p.S2890T Missense 3/3 - 1
1-152278695-G-A c.8667C>T p.S2889= Synonymous 3/3 - 1
1-152278695-GG-TT c.8666_8667delinsAA p.S2889* Nonsense 3/3 - 8
1-152278695-G-T c.8667C>A p.S2889= Synonymous 3/3 - 2
1-152278696-G-A c.8666C>T p.S2889F Missense 3/3 - 2
1-152278696-G-C c.8666C>G p.S2889C Missense 3/3 - 2
1-152278696-G-T c.8666C>A p.S2889Y Missense 3/3 - 2
1-152278698-T-A c.8664A>T p.G2888= Synonymous 3/3 - 1
1-152278698-T-C c.8664A>G p.G2888= Synonymous 3/3 - 1
1-152278698-T-G c.8664A>C p.G2888= Synonymous 3/3 - 1
1-152278699-C-T c.8663G>A p.G2888E Missense 3/3 - 8
1-152278702-T-G c.8660A>C p.Q2887P Missense 3/3 - 4
1-152278705-C-A c.8657G>T p.R2886L Missense 3/3 - 3
1-152278705-C-T c.8657G>A p.R2886H Missense 3/3 - 15
1-152278706-G-A c.8656C>T p.R2886C Missense 3/3 - 9
1-152278708-C-A c.8654G>T p.R2885M Missense 3/3 - 1
1-152278708-C-T c.8654G>A p.R2885K Missense 3/3 - 1
1-152278709-T-A c.8653A>T p.R2885W Missense 3/3 - 2
1-152278710-G-A c.8652C>T p.S2884= Synonymous 3/3 - 1
1-152278713-T-C c.8649A>G p.R2883= Synonymous 3/3 - 1
1-152278714-C-G c.8648G>C p.R2883T Missense 3/3 - 5
1-152278714-C-T c.8648G>A p.R2883K Missense 3/3 - 1
1-152278716-C-G c.8646G>C p.R2882S Missense 3/3 - 2
1-152278716-C-T c.8646G>A p.R2882= Synonymous 3/3 - 4
1-152278718-T-G c.8644A>C p.R2882= Synonymous 3/3 - 2
1-152278717-C-A c.8645G>T p.R2882M Missense 3/3 - 4
1-152278721-A-AT c.8640_8641insA p.S2881Ifs*16 Frameshift 3/3 - 1
1-152278724-C-A c.8638G>T p.G2880W Missense 3/3 - 3
1-152278724-C-G c.8638G>C p.G2880R Missense 3/3 - 2
1-152278724-C-T c.8638G>A p.G2880R Missense 3/3 - 2
1-152278725-C-G c.8637G>C p.E2879D Missense 3/3 - 1
1-152278727-C-G c.8635G>C p.E2879Q Missense 3/3 - 5
1-152278733-G-T c.8629C>A p.Q2877K Missense 3/3 - 5
1-152278734-T-A c.8628A>T p.G2876= Synonymous 3/3 - 1
1-152278734-T-C c.8628A>G p.G2876= Synonymous 3/3 - 2
1-152278734-T-G c.8628A>C p.G2876= Synonymous 3/3 - 1
1-152278736-C-G c.8626G>C p.G2876R Missense 3/3 - 1
1-152278736-C-T c.8626G>A p.G2876R Missense 3/3 - 2
1-152278741-A-C c.8621T>G p.V2874G Missense 3/3 - 1
1-152278742-C-G c.8620G>C p.V2874L Missense 3/3 - 1
1-152278744-G-A c.8618C>T p.A2873V Missense 3/3 - 1
1-152278745-C-T c.8617G>A p.A2873T Missense 3/3 - 1
1-152278746-C-T c.8616G>A p.Q2872= Synonymous 3/3 - 3
1-152278749-T-A c.8613A>T p.S2871= Synonymous 3/3 - 2
1-152278749-T-C c.8613A>G p.S2871= Synonymous 3/3 - 3
1-152278749-T-G c.8613A>C p.S2871= Synonymous 3/3 - 2
1-152278754-G-A c.8608C>T p.H2870Y Missense 3/3 - 1
1-152278756-C-A c.8606G>T p.R2869I Missense 3/3 - 1
1-152278756-C-G c.8606G>C p.R2869T Missense 3/3 - 1
1-152278757-T-C c.8605A>G p.R2869G Missense 3/3 - 1
1-152278758-A-C c.8604T>G p.S2868= Synonymous 3/3 - 1
1-152278758-A-G c.8604T>C p.S2868= Synonymous 3/3 - 1
1-152278758-A-T c.8604T>A p.S2868= Synonymous 3/3 - 1
1-152278762-A-C c.8600T>G p.I2867S Missense 3/3 - 10
1-152278764-G-T c.8598C>A p.D2866E Missense 3/3 - 2
1-152278766-C-T c.8596G>A p.D2866N Missense 3/3 - 4
1-152278767-G-A c.8595C>T p.A2865= Synonymous 3/3 - 3
1-152278767-G-C c.8595C>G p.A2865= Synonymous 3/3 - 2
1-152278767-G-T c.8595C>A p.A2865= Synonymous 3/3 - 2
1-152278768-G-A c.8594C>T p.A2865V Missense 3/3 - 1
1-152278768-G-GCC c.8593_8594insGG p.A2865Gfs*28 Frameshift 3/3 - 8
1-152278770-A-C c.8592T>G p.H2864Q Missense 3/3 - 3
1-152278770-A-T c.8592T>A p.H2864Q Missense 3/3 - 3
1-152278770-ATG-CCA c.8590_8592delinsTGG p.H2864W Missense 3/3 - 1
1-152278770-ATG-TTA c.8590_8592delinsTAA p.H2864* Nonsense 3/3 - 1
1-152278771-ATG-A c.8590_8591del p.H2864Cfs*5 Frameshift 3/3 - 7
1-152278771-T-C c.8591A>G p.H2864R Missense 3/3 - 3
1-152278771-T-G c.8591A>C p.H2864P Missense 3/3 - 2
1-152278772-G-A c.8590C>T p.H2864Y Missense 3/3 - 3
1-152278772-G-T c.8590C>A p.H2864N Missense 3/3 - 2
1-152278773-A-G c.8589T>C p.T2863= Synonymous 3/3 - 1
1-152278774-G-A c.8588C>T p.T2863I Missense 3/3 - 1
1-152278774-G-C c.8588C>G p.T2863S Missense 3/3 - 6
1-152278775-T-A c.8587A>T p.T2863S Missense 3/3 - 12
1-152278776-G-A c.8586C>T p.S2862= Synonymous 3/3 - 2
1-152278780-G-A c.8582C>T p.A2861V Missense 3/3 - 1
1-152278781-C-T c.8581G>A p.A2861T Missense 3/3 - 7
1-152278782-T-A c.8580A>T p.E2860D Missense 3/3 - 1
1-152278782-T-G c.8580A>C p.E2860D Missense 3/3 - 1
1-152278784-C-A c.8578G>T p.E2860* Nonsense 3/3 - 1
1-152278787-G-A c.8575C>T p.H2859Y Missense 3/3 - 1
1-152278788-G-A c.8574C>T p.H2858= Synonymous 3/3 - 4
1-152278790-G-A c.8572C>T p.H2858Y Missense 3/3 - 1
1-152278790-G-GA c.8571dup p.H2858Sfs*3 Frameshift 3/3 - 1
1-152278791-A-C c.8571T>G p.R2857= Synonymous 3/3 - 1
1-152278792-C-T c.8570G>A p.R2857H Missense 3/3 - 10
1-152278793-G-A c.8569C>T p.R2857C Missense 3/3 - 6
1-152278793-G-C c.8569C>G p.R2857G Missense 3/3 - 3
1-152278793-G-T c.8569C>A p.R2857S Missense 3/3 - 3
1-152278794-C-T c.8568G>A p.S2856= Synonymous 3/3 - 1
1-152278795-G-A c.8567C>T p.S2856L Missense 3/3 - 8
1-152278798-C-A c.8564G>T p.G2855V Missense 3/3 - 2
1-152278798-C-T c.8564G>A p.G2855E Missense 3/3 - 1
1-152278800-T-A c.8562A>T p.S2854= Synonymous 3/3 - 1
1-152278800-T-C c.8562A>G p.S2854= Synonymous 3/3 - 1
1-152278800-T-G c.8562A>C p.S2854= Synonymous 3/3 - 1
1-152278802-A-C c.8560T>G p.S2854A Missense 3/3 - 1
1-152278805-G-A c.8557C>T p.H2853Y Missense 3/3 - 1
1-152278805-G-T c.8557C>A p.H2853N Missense 3/3 - 3
1-152278806-C-A c.8556G>T p.R2852S Missense 3/3 - 1
1-152278807-C-G c.8555G>C p.R2852T Missense 3/3 - 1
1-152278809-G-A c.8553C>T p.S2851= Synonymous 3/3 - 6
1-152278809-G-C c.8553C>G p.S2851= Synonymous 3/3 - 3
1-152278809-G-T c.8553C>A p.S2851= Synonymous 3/3 - 3
1-152278811-A-T c.8551T>A p.S2851T Missense 3/3 - 1
1-152278812-G-A c.8550C>T p.G2850= Synonymous 3/3 - 3
1-152278812-G-C c.8550C>G p.G2850= Synonymous 3/3 - 3
1-152278812-G-T c.8550C>A p.G2850= Synonymous 3/3 - 3
1-152278813-C-T c.8549G>A p.G2850D Missense 3/3 - 2
1-152278814-C-A c.8548G>T p.G2850C Missense 3/3 - 1
1-152278814-C-T c.8548G>A p.G2850S Missense 3/3 - 19
1-152278815-G-A c.8547C>T p.D2849= Synonymous 3/3 - 7
1-152278815-G-T c.8547C>A p.D2849E Missense 3/3 - 1
1-152278817-C-A c.8545G>T p.D2849Y Missense 3/3 - 1
1-152278818-T-A c.8544A>T p.G2848= Synonymous 3/3 - 1
1-152278818-T-C c.8544A>G p.G2848= Synonymous 3/3 - 1
1-152278818-T-G c.8544A>C p.G2848= Synonymous 3/3 - 1
1-152278820-C-G c.8542G>C p.G2848R Missense 3/3 - 1
1-152278820-C-T c.8542G>A p.G2848R Missense 3/3 - 2
1-152278821-T-G c.8541A>C p.S2847= Synonymous 3/3 - 1
1-152278822-G-A c.8540C>T p.S2847L Missense 3/3 - 7
1-152278822-G-T c.8540C>A p.S2847* Nonsense 3/3 - 1
1-152278826-G-A c.8536C>T p.Q2846* Nonsense 3/3 - 1
1-152278826-G-T c.8536C>A p.Q2846K Missense 3/3 - 1
1-152278828-T-C c.8534A>G p.E2845G Missense 3/3 - 2
1-152278829-C-T c.8533G>A p.E2845K Missense 3/3 - 1
1-152278830-C-CTTG c.8531_8532insCAA p.E2844delinsDK MultiAAMissense 3/3 - 4
1-152278832-C-G c.8530G>C p.E2844Q Missense 3/3 - 1
1-152278832-C-T c.8530G>A p.E2844K Missense 3/3 - 5
1-152278832-TCATTACG-T c.8524_8530del p.E2844Nfs*46 Frameshift 3/3 - 1
1-152278833-A-G c.8529T>C p.N2843= Synonymous 3/3 - 1
1-152278833-A-T c.8529T>A p.N2843K Missense 3/3 - 1
1-152278834-T-G c.8528A>C p.N2843T Missense 3/3 - 1
1-152278835-T-C c.8527A>G p.N2843D Missense 3/3 - 1
1-152278835-TTAC-T c.8525_8527del p.R2842_N2843delinsH MultiAAMissense 3/3 - 1
1-152278837-C-A c.8525G>T p.R2842L Missense 3/3 - 1
1-152278837-C-T c.8525G>A p.R2842H Missense 3/3 - 5
1-152278838-G-A c.8524C>T p.R2842C Missense 3/3 - 2
1-152278838-G-T c.8524C>A p.R2842S Missense 3/3 - 3
1-152278842-T-A c.8520A>T p.T2840= Synonymous 3/3 - 1
1-152278838-GTGT-G c.8521_8523del p.T2841del InFrameDeletion 3/3 - 1
1-152278843-G-T c.8519C>A p.T2840K Missense 3/3 - 2
1-152278844-T-A c.8518A>T p.T2840S Missense 3/3 - 2
1-152278844-T-C c.8518A>G p.T2840A Missense 3/3 - 4
1-152278844-T-TAA c.8517_8518insTT p.T2840Lfs*53 Frameshift 3/3 - 1
1-152278846-C-G c.8516G>C p.R2839T Missense 3/3 - 4
1-152278846-C-T c.8516G>A p.R2839K Missense 3/3 - 2
1-152278847-T-A c.8515A>T p.R2839* Nonsense 3/3 - 1
1-152278854-A-C c.8508T>G p.S2836R Missense 3/3 - 5
1-152278854-A-G c.8508T>C p.S2836= Synonymous 3/3 - 1
1-152278854-A-T c.8508T>A p.S2836R Missense 3/3 - 5
1-152278855-C-A c.8507G>T p.S2836I Missense 3/3 - 1
1-152278855-C-T c.8507G>A p.S2836N Missense 3/3 - 4
1-152278855-CT-GG c.8506_8507delinsCC p.S2836P Missense 3/3 - 1
1-152278856-T-C c.8506A>G p.S2836G Missense 3/3 - 1
1-152278856-T-G c.8506A>C p.S2836R Missense 3/3 - 18
1-152278858-C-T c.8504G>A p.R2835K Missense 3/3 - 1
1-152278859-T-C c.8503A>G p.R2835G Missense 3/3 - 3
1-152278860-G-A c.8502C>T p.S2834= Synonymous 3/3 - 1
1-152278861-GA-CC c.8500_8501delinsGG p.S2834G Missense 3/3 - 1
1-152278861-G-C c.8501C>G p.S2834C Missense 3/3 - 1
1-152278864-C-T c.8498G>A p.G2833E Missense 3/3 - 5
1-152278865-C-G c.8497G>C p.G2833R Missense 3/3 - 2
1-152278865-C-T c.8497G>A p.G2833R Missense 3/3 - 2
1-152278867-G-C c.8495C>G p.S2832* Nonsense 3/3 - 1
1-152278867-G-T c.8495C>A p.S2832* Nonsense 3/3 - 1
1-152278869-C-G c.8493G>C p.Q2831H Missense 3/3 - 2
1-152278869-C-T c.8493G>A p.Q2831= Synonymous 3/3 - 1
1-152278871-TG-T c.8491del p.Q2831Sfs*61 Frameshift 3/3 - 1
1-152278872-CCC-ACA c.8488_8490delinsTGT p.G2830C Missense 3/3 - 1
1-152278873-C-A c.8489G>T p.G2830V Missense 3/3 - 1
1-152278873-C-T c.8489G>A p.G2830E Missense 3/3 - 1
1-152278876-C-T c.8486G>A p.R2829H Missense 3/3 - 3
1-152278877-G-A c.8485C>T p.R2829C Missense 3/3 - 1
1-152278877-G-T c.8485C>A p.R2829S Missense 3/3 - 3
1-152278879-G-T c.8483C>A p.S2828Y Missense 3/3 - 8
1-152278886-C-T c.8476G>A p.D2826N Missense 3/3 - 2
1-152278888-G-A c.8474C>T p.S2825F Missense 3/3 - 2
1-152278890-C-A c.8472G>T p.R2824S Missense 3/3 - 2
1-152278890-C-G c.8472G>C p.R2824S Missense 3/3 - 1
1-152278892-T-C c.8470A>G p.R2824G Missense 3/3 - 1
1-152278894-C-T c.8468G>A p.G2823E Missense 3/3 - 8
1-152278895-C-G c.8467G>C p.G2823R Missense 3/3 - 1
1-152278895-C-T c.8467G>A p.G2823R Missense 3/3 - 1
1-152278896-C-T c.8466G>A p.Q2822= Synonymous 3/3 - 2
1-152278898-G-T c.8464C>A p.Q2822K Missense 3/3 - 1
1-152278899-G-A c.8463C>T p.S2821= Synonymous 3/3 - 1
1-152278901-A-G c.8461T>C p.S2821P Missense 3/3 - 1
1-152278903-G-A c.8459C>T p.T2820I Missense 3/3 - 1
1-152278904-T-C c.8458A>G p.T2820A Missense 3/3 - 1
1-152278905-G-A c.8457C>T p.T2819= Synonymous 3/3 - 1
1-152278909-TGGCTGTGATGG-T c.8442_8452del p.S2817Ifs*6 Frameshift 3/3 - 1
1-152278911-G-A c.8451C>T p.S2817= Synonymous 3/3 - 1
1-152278913-T-C c.8449A>G p.S2817G Missense 3/3 - 1
1-152278916-G-C c.8446C>G p.H2816D Missense 3/3 - 1
1-152278919-G-A c.8443C>T p.H2815Y Missense 3/3 - 1
1-152278919-G-T c.8443C>A p.H2815N Missense 3/3 - 2
1-152278924-C-T c.8438G>A p.G2813E Missense 3/3 - 3
1-152278927-G-C c.8435C>G p.S2812* Nonsense 3/3 - 1
1-152278927-G-T c.8435C>A p.S2812* Nonsense 3/3 - 1
1-152278929-G-C c.8433C>G p.H2811Q Missense 3/3 - 1
1-152278929-G-T c.8433C>A p.H2811Q Missense 3/3 - 1
1-152278932-T-G c.8430A>C p.G2810= Synonymous 3/3 - 1
1-152278933-C-A c.8429G>T p.G2810V Missense 3/3 - 3
1-152278933-C-T c.8429G>A p.G2810E Missense 3/3 - 4
1-152278935-A-C c.8427T>G p.S2809= Synonymous 3/3 - 1
1-152278935-A-G c.8427T>C p.S2809= Synonymous 3/3 - 2
1-152278935-A-T c.8427T>A p.S2809= Synonymous 3/3 - 1
1-152278936-GA-AG c.8425_8426delinsCT p.S2809L Missense 3/3 - 1
1-152278936-G-T c.8426C>A p.S2809Y Missense 3/3 - 1
1-152278938-G-C c.8424C>G p.S2808R Missense 3/3 - 2
1-152278938-G-T c.8424C>A p.S2808R Missense 3/3 - 1
1-152278945-A-G c.8417T>C p.V2806A Missense 3/3 - 4
1-152278946-C-A c.8416G>T p.V2806L Missense 3/3 - 1
1-152278947-C-A c.8415G>T p.S2805= Synonymous 3/3 - 1
1-152278948-G-A c.8414C>T p.S2805L Missense 3/3 - 1
1-152278950-A-T c.8412T>A p.H2804Q Missense 3/3 - 2
1-152278952-G-T c.8410C>A p.H2804N Missense 3/3 - 1
1-152278953-C-A c.8409G>T p.E2803D Missense 3/3 - 1
1-152278953-C-G c.8409G>C p.E2803D Missense 3/3 - 1
1-152278955-C-T c.8407G>A p.E2803K Missense 3/3 - 5
1-152278956-G-A c.8406C>T p.H2802= Synonymous 3/3 - 3
1-152278956-G-C c.8406C>G p.H2802Q Missense 3/3 - 2
1-152278956-G-T c.8406C>A p.H2802Q Missense 3/3 - 1
1-152278958-G-A c.8404C>T p.H2802Y Missense 3/3 - 2
1-152278963-T-G c.8399A>C p.Y2800S Missense 3/3 - 1
1-152278964-A-G c.8398T>C p.Y2800H Missense 3/3 - 1
1-152278965-C-T c.8397G>A p.G2799= Synonymous 3/3 - 1
1-152278966-C-A c.8396G>T p.G2799V Missense 3/3 - 2
1-152278966-C-T c.8396G>A p.G2799E Missense 3/3 - 2
1-152278967-C-G c.8395G>C p.G2799R Missense 3/3 - 2
1-152278967-C-T c.8395G>A p.G2799R Missense 3/3 - 4
1-152278969-CT-C c.8393del p.Q2798Rfs*9 Frameshift 3/3 - 1
1-152278971-C-T c.8391G>A p.R2797= Synonymous 3/3 - 2
1-152278976-C-A c.8386G>T p.G2796* Nonsense 3/3 - 1
1-152278978-C-A c.8384G>T p.G2795V Missense 3/3 - 2
1-152278979-C-G c.8383G>C p.G2795R Missense 3/3 - 1
1-152278979-C-T c.8383G>A p.G2795R Missense 3/3 - 7
1-152278983-G-A c.8379C>T p.S2793= Synonymous 3/3 - 1
1-152278983-G-C c.8379C>G p.S2793R Missense 3/3 - 2
1-152278983-G-T c.8379C>A p.S2793R Missense 3/3 - 2
1-152278985-T-G c.8377A>C p.S2793R Missense 3/3 - 2
1-152278984-C-A c.8378G>T p.S2793I Missense 3/3 - 3
1-152278987-G-A c.8375C>T p.S2792L Missense 3/3 - 2
1-152278988-A-G c.8374T>C p.S2792P Missense 3/3 - 1
1-152278990-C-T c.8372G>A p.G2791E Missense 3/3 - 3
1-152278991-C-G c.8371G>C p.G2791R Missense 3/3 - 2
1-152278991-C-T c.8371G>A p.G2791R Missense 3/3 - 4
1-152278992-C-T c.8370G>A p.P2790= Synonymous 3/3 - 2
1-152278993-G-T c.8369C>A p.P2790Q Missense 3/3 - 3
1-152278994-G-T c.8368C>A p.P2790T Missense 3/3 - 3
1-152278995-G-T c.8367C>A p.H2789Q Missense 3/3 - 2
1-152278997-G-A c.8365C>T p.H2789Y Missense 3/3 - 1
1-152279000-C-G c.8362G>C p.G2788R Missense 3/3 - 1
1-152279001-ACG-CCA c.8359_8361delinsTGG p.R2787W Missense 3/3 - 1
1-152279001-AC-TT c.8360_8361delinsAA p.R2787Q Missense 3/3 - 1
1-152279002-C-A c.8360G>T p.R2787L Missense 3/3 - 1
1-152279002-C-T c.8360G>A p.R2787H Missense 3/3 - 4
1-152279003-G-A c.8359C>T p.R2787C Missense 3/3 - 7
1-152279007-G-C c.8355C>G p.T2785= Synonymous 3/3 - 1
1-152279008-G-T c.8354C>A p.T2785N Missense 3/3 - 1
1-152279012-C-A c.8350G>T p.D2784Y Missense 3/3 - 1
1-152279012-C-G c.8350G>C p.D2784H Missense 3/3 - 8
1-152279013-C-A c.8349G>T p.Q2783H Missense 3/3 - 1
1-152279013-C-G c.8349G>C p.Q2783H Missense 3/3 - 1
1-152279013-C-T c.8349G>A p.Q2783= Synonymous 3/3 - 1
1-152279016-A-C c.8346T>G p.G2782= Synonymous 3/3 - 1
1-152279016-A-G c.8346T>C p.G2782= Synonymous 3/3 - 1
1-152279016-A-T c.8346T>A p.G2782= Synonymous 3/3 - 1
1-152279017-C-T c.8345G>A p.G2782D Missense 3/3 - 5
1-152279016-AC-A c.8345del p.G2782Vfs*25 Frameshift 3/3 - 1
1-152279018-C-A c.8344G>T p.G2782C Missense 3/3 - 2
1-152279018-C-T c.8344G>A p.G2782S Missense 3/3 - 6
1-152279019-G-A c.8343C>T p.D2781= Synonymous 3/3 - 13
1-152279019-G-C c.8343C>G p.D2781E Missense 3/3 - 1
1-152279019-G-T c.8343C>A p.D2781E Missense 3/3 - 1
1-152279021-C-A c.8341G>T p.D2781Y Missense 3/3 - 4
1-152279024-G-A c.8338C>T p.Q2780* Nonsense 3/3 - 4
1-152279025-G-A c.8337C>T p.S2779= Synonymous 3/3 - 2
1-152279025-G-C c.8337C>G p.S2779= Synonymous 3/3 - 1
1-152279025-G-T c.8337C>A p.S2779= Synonymous 3/3 - 1
1-152279027-A-G c.8335T>C p.S2779P Missense 3/3 - 1
1-152279032-G-C c.8330C>G p.S2777* Nonsense 3/3 - 1
1-152279032-G-T c.8330C>A p.S2777* Nonsense 3/3 - 1
1-152279034-G-GTGT c.8327_8328insACA p.R2775_H2776insQ InFrameInsertion 3/3 - 1
1-152279038-C-A c.8324G>T p.R2775M Missense 3/3 - 2
1-152279040-G-A c.8322C>T p.S2774= Synonymous 3/3 - 3
1-152279040-G-C c.8322C>G p.S2774= Synonymous 3/3 - 3
1-152279040-G-T c.8322C>A p.S2774= Synonymous 3/3 - 4
1-152279041-G-A c.8321C>T p.S2774F Missense 3/3 - 1
1-152279044-C-T c.8318G>A p.S2773N Missense 3/3 - 1
1-152279046-G-C c.8316C>G p.D2772E Missense 3/3 - 3
1-152279046-G-T c.8316C>A p.D2772E Missense 3/3 - 4
1-152279047-GT-G c.8315del p.D2772Afs*35 Frameshift 3/3 - 1
1-152279050-T-C c.8312A>G p.Q2771R Missense 3/3 - 3
1-152279053-G-A c.8309C>T p.A2770V Missense 3/3 - 1
1-152279054-C-G c.8308G>C p.A2770P Missense 3/3 - 1
1-152279054-C-T c.8308G>A p.A2770T Missense 3/3 - 2
1-152279055-C-T c.8307G>A p.Q2769= Synonymous 3/3 - 2
1-152279057-G-T c.8305C>A p.Q2769K Missense 3/3 - 1
1-152279060-C-G c.8302G>C p.E2768Q Missense 3/3 - 1
1-152279060-C-T c.8302G>A p.E2768K Missense 3/3 - 6
1-152279063-G-A c.8299C>T p.H2767Y Missense 3/3 - 1
1-152279064-G-A c.8298C>T p.R2766= Synonymous 3/3 - 1
1-152279064-G-C c.8298C>G p.R2766= Synonymous 3/3 - 1
1-152279064-G-T c.8298C>A p.R2766= Synonymous 3/3 - 1
1-152279065-C-T c.8297G>A p.R2766H Missense 3/3 - 2
1-152279066-G-A c.8296C>T p.R2766C Missense 3/3 - 4
1-152279066-G-T c.8296C>A p.R2766S Missense 3/3 - 2
1-152279068-G-A c.8294C>T p.S2765F Missense 3/3 - 1
1-152279068-G-C c.8294C>G p.S2765C Missense 3/3 - 1
1-152279069-A-G c.8293T>C p.S2765P Missense 3/3 - 1
1-152279071-C-T c.8291G>A p.G2764E Missense 3/3 - 7
1-152279080-C-T c.8282G>A p.G2761E Missense 3/3 - 6
1-152279082-T-A c.8280A>T p.R2760S Missense 3/3 - 1
1-152279083-C-G c.8279G>C p.R2760T Missense 3/3 - 7
1-152279085-A-G c.8277T>C p.T2759= Synonymous 3/3 - 1
1-152279086-G-T c.8276C>A p.T2759N Missense 3/3 - 2
1-152279087-T-G c.8275A>C p.T2759P Missense 3/3 - 1
1-152279088-G-A c.8274C>T p.S2758= Synonymous 3/3 - 1
1-152279088-G-C c.8274C>G p.S2758R Missense 3/3 - 1
1-152279088-G-T c.8274C>A p.S2758R Missense 3/3 - 2
1-152279090-T-G c.8272A>C p.S2758R Missense 3/3 - 1
1-152279089-C-A c.8273G>T p.S2758I Missense 3/3 - 9
1-152279092-G-T c.8270C>A p.P2757H Missense 3/3 - 1
1-152279093-G-A c.8269C>T p.P2757S Missense 3/3 - 1
1-152279093-G-C c.8269C>G p.P2757A Missense 3/3 - 1
1-152279095-C-T c.8267G>A p.G2756E Missense 3/3 - 1
1-152279098-G-A c.8264C>T p.T2755M Missense 3/3 - 3
1-152279099-T-G c.8263A>C p.T2755P Missense 3/3 - 1
1-152279104-C-G c.8258G>C p.G2753A Missense 3/3 - 1
1-152279104-C-T c.8258G>A p.G2753E Missense 3/3 - 2
1-152279106-A-G c.8256T>C p.H2752= Synonymous 3/3 - 1
1-152279110-G-A c.8252C>T p.S2751F Missense 3/3 - 1
1-152279111-A-T c.8251T>A p.S2751T Missense 3/3 - 3
1-152279112-G-A c.8250C>T p.S2750= Synonymous 3/3 - 2
1-152279112-G-C c.8250C>G p.S2750= Synonymous 3/3 - 1
1-152279112-G-T c.8250C>A p.S2750= Synonymous 3/3 - 1
1-152279113-G-C c.8249C>G p.S2750C Missense 3/3 - 3
1-152279115-C-T c.8247G>A p.E2749= Synonymous 3/3 - 1
1-152279116-CT-C c.8246del p.E2749Gfs*58 Frameshift 3/3 - 1
1-152279117-C-G c.8245G>C p.E2749Q Missense 3/3 - 1
1-152279126-C-A c.8236G>T p.E2746* Nonsense 3/3 - 1
1-152279131-G-T c.8231C>A p.T2744N Missense 3/3 - 1
1-152279133-G-A c.8229C>T p.S2743= Synonymous 3/3 - 1
1-152279135-T-A c.8227A>T p.S2743C Missense 3/3 - 1
1-152279138-C-T c.8224G>A p.V2742M Missense 3/3 - 1
1-152279138-CCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACT-C c.8165_8223del p.E2722Gfs*5 InFrameDeletion 3/3 - 1
1-152279155-C-T c.8207G>A p.G2736E Missense 3/3 - 4
1-152279161-T-C c.8201A>G p.H2734R Missense 3/3 - 2
1-152279162-G-A c.8200C>T p.H2734Y Missense 3/3 - 2
1-152279164-C-A c.8198G>T p.G2733V Missense 3/3 - 2
1-152279167-G-A c.8195C>T p.S2732F Missense 3/3 - 1
1-152279169-C-G c.8193G>C p.T2731= Synonymous 3/3 - 1
1-152279170-G-A c.8192C>T p.T2731M Missense 3/3 - 1
1-152279170-G-C c.8192C>G p.T2731R Missense 3/3 - 1
1-152279170-G-T c.8192C>A p.T2731K Missense 3/3 - 1
1-152279174-C-T c.8188G>A p.E2730K Missense 3/3 - 2
1-152279177-C-A c.8185G>T p.G2729W Missense 3/3 - 1
1-152279183-G-A c.8179C>T p.R2727W Missense 3/3 - 1
1-152279184-G-A c.8178C>T p.G2726= Synonymous 3/3 - 3
1-152279184-G-C c.8178C>G p.G2726= Synonymous 3/3 - 3
1-152279184-G-T c.8178C>A p.G2726= Synonymous 3/3 - 3
1-152279189-G-A c.8173C>T p.R2725C Missense 3/3 - 1
1-152279194-GA-AG c.8167_8168delinsCT p.S2723L Missense 3/3 - 1
1-152279195-A-G c.8167T>C p.S2723P Missense 3/3 - 1
1-152279196-C-T c.8166G>A p.E2722= Synonymous 3/3 - 1
1-152279202-G-C c.8160C>G p.H2720Q Missense 3/3 - 1
1-152279202-G-T c.8160C>A p.H2720Q Missense 3/3 - 1
1-152279203-TG-T c.8158del p.H2720Tfs*23 Frameshift 3/3 - 2
1-152279209-T-C c.8153A>G p.Q2718R Missense 3/3 - 3
1-152279210-G-A c.8152C>T p.Q2718* Nonsense 3/3 - 1
1-152279210-G-T c.8152C>A p.Q2718K Missense 3/3 - 1
1-152279213-G-A c.8149C>T p.Q2717* Nonsense 3/3 - 1
1-152279218-G-A c.8144C>T p.S2715F Missense 3/3 - 1
1-152279219-A-G c.8143T>C p.S2715P Missense 3/3 - 3
1-152279225-C-T c.8137G>A p.A2713T Missense 3/3 - 1
1-152279226-C-A c.8136G>T p.Q2712H Missense 3/3 - 3
1-152279226-C-G c.8136G>C p.Q2712H Missense 3/3 - 2
1-152279226-C-T c.8136G>A p.Q2712= Synonymous 3/3 - 1
1-152279227-T-C c.8135A>G p.Q2712R Missense 3/3 - 1
1-152279231-C-T c.8131G>A p.G2711R Missense 3/3 - 2
1-152279239-G-A c.8123C>T p.S2708L Missense 3/3 - 3
1-152279242-A-T c.8120T>A p.V2707E Missense 3/3 - 1
1-152279245-G-C c.8117C>G p.S2706* Nonsense 3/3 - 9
1-152279245-G-T c.8117C>A p.S2706* Nonsense 3/3 - 6
1-152279247-C-T c.8115G>A p.Q2705= Synonymous 3/3 - 2
1-152279252-T-C c.8110A>G p.T2704A Missense 3/3 - 2
1-152279261-C-A c.8101G>T p.D2701Y Missense 3/3 - 1
1-152279262-T-A c.8100A>T p.E2700D Missense 3/3 - 1
1-152279262-T-G c.8100A>C p.E2700D Missense 3/3 - 1
1-152279264-C-T c.8098G>A p.E2700K Missense 3/3 - 1
1-152279271-TC-T c.8090del p.G2697Dfs*46 Frameshift 3/3 - 1
1-152279274-C-T c.8088G>A p.E2696= Synonymous 3/3 - 1
1-152279278-T-C c.8084A>G p.N2695S Missense 3/3 - 1
1-152279284-C-G c.8078G>C p.S2693T Missense 3/3 - 1
1-152279288-C-T c.8074G>A p.A2692T Missense 3/3 - 2
1-152279303-A-T c.8059T>A p.Y2687N Missense 3/3 - 1
1-152279305-C-T c.8057G>A p.G2686E Missense 3/3 - 1
1-152279308-C-T c.8054G>A p.R2685Q Missense 3/3 - 2
1-152279309-G-A c.8053C>T p.R2685* Nonsense 3/3 - 1
1-152279309-G-C c.8053C>G p.R2685G Missense 3/3 - 1
1-152279315-C-G c.8047G>C p.G2683R Missense 3/3 - 2
1-152279315-C-T c.8047G>A p.G2683R Missense 3/3 - 3
1-152279330-C-G c.8032G>C p.A2678P Missense 3/3 - 1
1-152279333-A-G c.8029T>C p.S2677P Missense 3/3 - 1
1-152279334-T-A c.8028A>T p.S2676= Synonymous 3/3 - 1
1-152279334-T-C c.8028A>G p.S2676= Synonymous 3/3 - 1
1-152279334-T-G c.8028A>C p.S2676= Synonymous 3/3 - 1
1-152279337-A-C c.8025T>G p.A2675= Synonymous 3/3 - 1
1-152279337-A-G c.8025T>C p.A2675= Synonymous 3/3 - 2
1-152279337-A-T c.8025T>A p.A2675= Synonymous 3/3 - 1
1-152279344-C-G c.8018G>C p.G2673A Missense 3/3 - 1
1-152279358-T-A c.8004A>T p.S2668= Synonymous 3/3 - 2
1-152279358-T-C c.8004A>G p.S2668= Synonymous 3/3 - 3
1-152279358-T-G c.8004A>C p.S2668= Synonymous 3/3 - 2
1-152279359-G-A c.8003C>T p.S2668L Missense 3/3 - 1
1-152279360-A-C c.8002T>G p.S2668A Missense 3/3 - 1
1-152279368-G-T c.7994C>A p.S2665Y Missense 3/3 - 1
1-152279371-C-T c.7991G>A p.S2664N Missense 3/3 - 4
1-152279372-T-C c.7990A>G p.S2664G Missense 3/3 - 1
1-152279380-G-T c.7982C>A p.S2661* Nonsense 3/3 - 1
1-152279402-G-C c.7960C>G p.H2654D Missense 3/3 - 1
1-152279406-T-A c.7956A>T p.E2652D Missense 3/3 - 7
1-152279406-T-C c.7956A>G p.E2652= Synonymous 3/3 - 2
1-152279406-T-G c.7956A>C p.E2652D Missense 3/3 - 13
1-152279416-C-G c.7946G>C p.S2649T Missense 3/3 - 1
1-152279416-CT-C c.7945del p.S2649Vfs*94 Frameshift 3/3 - 7
1-152279419-G-A c.7943C>T p.S2648L Missense 3/3 - 1
1-152279419-GA-AT c.7942_7943delinsAT p.S2648I Missense 3/3 - 1
1-152279422-C-A c.7940G>T p.R2647I Missense 3/3 - 1
1-152279432-C-G c.7930G>C p.E2644Q Missense 3/3 - 2
1-152279441-A-T c.7921T>A p.S2641T Missense 3/3 - 1
1-152279443-G-T c.7919C>A p.A2640E Missense 3/3 - 1
1-152279445-A-G c.7917T>C p.A2639= Synonymous 3/3 - 1
1-152279447-C-T c.7915G>A p.A2639T Missense 3/3 - 1
1-152279452-C-A c.7910G>T p.G2637V Missense 3/3 - 1
1-152279454-A-C c.7908T>G p.G2636= Synonymous 3/3 - 1
1-152279454-A-G c.7908T>C p.G2636= Synonymous 3/3 - 1
1-152279454-A-T c.7908T>A p.G2636= Synonymous 3/3 - 1
1-152279456-C-T c.7906G>A p.G2636S Missense 3/3 - 1
1-152279460-G-A c.7902C>T p.S2634= Synonymous 3/3 - 2
1-152279460-G-C c.7902C>G p.S2634= Synonymous 3/3 - 2
1-152279460-G-T c.7902C>A p.S2634= Synonymous 3/3 - 2
1-152279464-G-C c.7898C>G p.T2633S Missense 3/3 - 1
1-152279470-G-A c.7892C>T p.T2631I Missense 3/3 - 1
1-152279476-C-T c.7886G>A p.R2629H Missense 3/3 - 1
1-152279477-G-A c.7885C>T p.R2629C Missense 3/3 - 1
1-152279487-T-C c.7875A>G p.Q2625= Synonymous 3/3 - 2
1-152279513-C-A c.7849G>T p.G2617W Missense 3/3 - 1
1-152279514-A-G c.7848T>C p.H2616= Synonymous 3/3 - 1
1-152279515-T-C c.7847A>G p.H2616R Missense 3/3 - 1
1-152279525-T-A c.7837A>T p.R2613* Nonsense 3/3 - 5
1-152279526-G-A c.7836C>T p.D2612= Synonymous 3/3 - 1
1-152279527-T-C c.7835A>G p.D2612G Missense 3/3 - 6
1-152279556-G-A c.7806C>T p.G2602= Synonymous 3/3 - 2
1-152279556-G-C c.7806C>G p.G2602= Synonymous 3/3 - 2
1-152279556-G-T c.7806C>A p.G2602= Synonymous 3/3 - 4
1-152279561-C-T c.7801G>A p.D2601N Missense 3/3 - 4
1-152279563-C-T c.7799G>A p.R2600K Missense 3/3 - 3
1-152279566-A-G c.7796T>C p.L2599P Missense 3/3 - 2
1-152279568-C-T c.7794G>A p.Q2598= Synonymous 3/3 - 1
1-152279570-G-A c.7792C>T p.Q2598* Nonsense 3/3 - 2
1-152279571-C-T c.7791G>A p.E2597= Synonymous 3/3 - 2
1-152279573-C-G c.7789G>C p.E2597Q Missense 3/3 - 1
1-152279576-G-A c.7786C>T p.Q2596* Nonsense 3/3 - 1
1-152279576-G-C c.7786C>G p.Q2596E Missense 3/3 - 1
1-152279578-G-T c.7784C>A p.A2595D Missense 3/3 - 1
1-152279579-C-A c.7783G>T p.A2595S Missense 3/3 - 1
1-152279581-G-C c.7781C>G p.S2594C Missense 3/3 - 1
1-152279585-C-G c.7777G>C p.G2593R Missense 3/3 - 2
1-152279585-C-T c.7777G>A p.G2593R Missense 3/3 - 3
1-152279587-T-C c.7775A>G p.H2592R Missense 3/3 - 1
1-152279587-T-G c.7775A>C p.H2592P Missense 3/3 - 3
1-152279588-G-T c.7774C>A p.H2592N Missense 3/3 - 1
1-152279590-T-G c.7772A>C p.H2591P Missense 3/3 - 2
1-152279592-G-A c.7770C>T p.N2590= Synonymous 3/3 - 1
1-152279593-T-A c.7769A>T p.N2590I Missense 3/3 - 3
1-152279598-G-T c.7764C>A p.S2588= Synonymous 3/3 - 1
1-152279602-G-A c.7760C>T p.A2587V Missense 3/3 - 2
1-152279605-G-A c.7757C>T p.S2586F Missense 3/3 - 4
1-152279606-A-G c.7756T>C p.S2586P Missense 3/3 - 2
1-152279607-C-T c.7755G>A p.G2585= Synonymous 3/3 - 1
1-152279608-C-A c.7754G>T p.G2585V Missense 3/3 - 3
1-152279608-CC-AG c.7753_7754delinsCT p.G2585L Missense 3/3 - 1
1-152279608-C-G c.7754G>C p.G2585A Missense 3/3 - 1
1-152279609-C-A c.7753G>T p.G2585W Missense 3/3 - 3
1-152279610-A-C c.7752T>G p.S2584= Synonymous 3/3 - 1
1-152279610-A-G c.7752T>C p.S2584= Synonymous 3/3 - 2
1-152279610-A-T c.7752T>A p.S2584= Synonymous 3/3 - 1
1-152279613-C-T c.7749G>A p.W2583* Nonsense 3/3 - 2
1-152279614-C-T c.7748G>A p.W2583* Nonsense 3/3 - 1
1-152279617-C-G c.7745G>C p.R2582T Missense 3/3 - 1
1-152279619-C-A c.7743G>T p.E2581D Missense 3/3 - 1
1-152279619-C-G c.7743G>C p.E2581D Missense 3/3 - 1
1-152279620-T-G c.7742A>C p.E2581A Missense 3/3 - 1
1-152279621-TCA-T c.7740_7741del p.R2582Vfs*62 Frameshift 3/3 - 1
1-152279623-G-A c.7739C>T p.S2580F Missense 3/3 - 1
1-152279627-C-G c.7735G>C p.D2579H Missense 3/3 - 7
1-152279631-T-A c.7731A>T p.S2577= Synonymous 3/3 - 2
1-152279631-T-C c.7731A>G p.S2577= Synonymous 3/3 - 2
1-152279631-T-G c.7731A>C p.S2577= Synonymous 3/3 - 3
1-152279632-G-C c.7730C>G p.S2577* Nonsense 3/3 - 3
1-152279632-G-T c.7730C>A p.S2577* Nonsense 3/3 - 1
1-152279637-TCC-CCA c.7723_7725delinsTGG p.G2575W Missense 3/3 - 2
1-152279638-C-G c.7724G>C p.G2575A Missense 3/3 - 1
1-152279638-C-T c.7724G>A p.G2575E Missense 3/3 - 1
1-152279639-C-G c.7723G>C p.G2575R Missense 3/3 - 2
1-152279639-C-T c.7723G>A p.G2575R Missense 3/3 - 2
1-152279642-G-C c.7720C>G p.Q2574E Missense 3/3 - 4
1-152279644-C-T c.7718G>A p.S2573N Missense 3/3 - 2
1-152279648-C-G c.7714G>C p.D2572H Missense 3/3 - 1
1-152279652-G-A c.7710C>T p.D2570= Synonymous 3/3 - 1
1-152279654-C-T c.7708G>A p.D2570N Missense 3/3 - 2
1-152279658-G-A c.7704C>T p.S2568= Synonymous 3/3 - 1
1-152279658-G-C c.7704C>G p.S2568R Missense 3/3 - 2
1-152279658-G-T c.7704C>A p.S2568R Missense 3/3 - 3
1-152279660-T-G c.7702A>C p.S2568R Missense 3/3 - 2
1-152279650-CTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCT-C c.7678_7711del p.S2560Vfs*29 Frameshift 3/3 - 1
1-152279663-A-C c.7699T>G p.F2567V Missense 3/3 - 3
1-152279668-G-C c.7694C>G p.S2565C Missense 3/3 - 2
1-152279668-G-T c.7694C>A p.S2565Y Missense 3/3 - 2
1-152279671-C-G c.7691G>C p.G2564A Missense 3/3 - 1
1-152279672-C-A c.7690G>T p.G2564* Nonsense 3/3 - 1
1-152279672-C-T c.7690G>A p.G2564R Missense 3/3 - 1
1-152279676-G-A c.7686C>T p.N2562= Synonymous 3/3 - 2
1-152279679-C-A c.7683G>T p.R2561S Missense 3/3 - 4
1-152279679-C-G c.7683G>C p.R2561S Missense 3/3 - 3
1-152279679-C-T c.7683G>A p.R2561= Synonymous 3/3 - 6
1-152279681-T-G c.7681A>C p.R2561= Synonymous 3/3 - 2
1-152279683-C-G c.7679G>C p.S2560T Missense 3/3 - 1
1-152279684-T-A c.7678A>T p.S2560C Missense 3/3 - 1
1-152279686-G-C c.7676C>G p.T2559R Missense 3/3 - 1
1-152279688-C-A c.7674G>T p.R2558S Missense 3/3 - 2
1-152279688-C-G c.7674G>C p.R2558S Missense 3/3 - 2
1-152279693-G-A c.7669C>T p.P2557S Missense 3/3 - 1
1-152279696-C-G c.7666G>C p.G2556R Missense 3/3 - 3
1-152279696-C-T c.7666G>A p.G2556R Missense 3/3 - 3
1-152279697-C-A c.7665G>T p.E2555D Missense 3/3 - 1
1-152279697-C-G c.7665G>C p.E2555D Missense 3/3 - 1
1-152279697-C-T c.7665G>A p.E2555= Synonymous 3/3 - 1
1-152279698-T-G c.7664A>C p.E2555A Missense 3/3 - 1
1-152279701-G-A c.7661C>T p.S2554L Missense 3/3 - 1
1-152279701-G-C c.7661C>G p.S2554* Nonsense 3/3 - 22
1-152279701-G-T c.7661C>A p.S2554* Nonsense 3/3 - 21
1-152279705-TG-T c.7657del p.Q2553Nfs*47 Frameshift 3/3 - 1
1-152279706-T-A c.7656A>T p.G2552= Synonymous 3/3 - 3
1-152279706-T-C c.7656A>G p.G2552= Synonymous 3/3 - 4
1-152279706-T-G c.7656A>C p.G2552= Synonymous 3/3 - 3
1-152279707-C-A c.7655G>T p.G2552V Missense 3/3 - 1
1-152279707-C-T c.7655G>A p.G2552E Missense 3/3 - 3
1-152279708-C-T c.7654G>A p.G2552R Missense 3/3 - 3
1-152279709-C-T c.7653G>A p.Q2551= Synonymous 3/3 - 1
1-152279710-T-A c.7652A>T p.Q2551L Missense 3/3 - 1
1-152279710-T-G c.7652A>C p.Q2551P Missense 3/3 - 3
1-152279711-G-C c.7651C>G p.Q2551E Missense 3/3 - 1
1-152279712-G-A c.7650C>T p.G2550= Synonymous 3/3 - 1
1-152279712-G-C c.7650C>G p.G2550= Synonymous 3/3 - 1
1-152279712-G-T c.7650C>A p.G2550= Synonymous 3/3 - 1
1-152279713-C-T c.7649G>A p.G2550D Missense 3/3 - 2
1-152279716-A-G c.7646T>C p.V2549A Missense 3/3 - 1
1-152279716-A-T c.7646T>A p.V2549E Missense 3/3 - 1
1-152279717-C-T c.7645G>A p.V2549M Missense 3/3 - 1
1-152279718-C-T c.7644G>A p.Q2548= Synonymous 3/3 - 1
1-152279721-C-A c.7641G>T p.S2547= Synonymous 3/3 - 2
1-152279721-C-G c.7641G>C p.S2547= Synonymous 3/3 - 2
1-152279721-C-T c.7641G>A p.S2547= Synonymous 3/3 - 4
1-152279722-G-A c.7640C>T p.S2547L Missense 3/3 - 2
1-152279722-G-C c.7640C>G p.S2547W Missense 3/3 - 1
1-152279722-G-T c.7640C>A p.S2547* Nonsense 3/3 - 1
1-152279724-G-C c.7638C>G p.H2546Q Missense 3/3 - 1
1-152279724-G-T c.7638C>A p.H2546Q Missense 3/3 - 1
1-152279726-G-T c.7636C>A p.H2546N Missense 3/3 - 1
1-152279727-T-A c.7635A>T p.G2545= Synonymous 3/3 - 2
1-152279727-T-C c.7635A>G p.G2545= Synonymous 3/3 - 2
1-152279727-T-G c.7635A>C p.G2545= Synonymous 3/3 - 2
1-152279728-C-A c.7634G>T p.G2545V Missense 3/3 - 1
1-152279728-C-G c.7634G>C p.G2545A Missense 3/3 - 3
1-152279729-C-G c.7633G>C p.G2545R Missense 3/3 - 4
1-152279729-C-T c.7633G>A p.G2545R Missense 3/3 - 28
1-152279730-A-G c.7632T>C p.S2544= Synonymous 3/3 - 1
1-152279730-AG-TT c.7631_7632delinsAA p.S2544* Nonsense 3/3 - 1
1-152279733-G-C c.7629C>G p.S2543R Missense 3/3 - 1
1-152279733-G-T c.7629C>A p.S2543R Missense 3/3 - 1
1-152279735-T-G c.7627A>C p.S2543R Missense 3/3 - 1
1-152279734-C-A c.7628G>T p.S2543I Missense 3/3 - 1
1-152279734-CT-AA c.7627_7628delinsTT p.S2543F Missense 3/3 - 1
1-152279736-G-C c.7626C>G p.D2542E Missense 3/3 - 1
1-152279738-C-G c.7624G>C p.D2542H Missense 3/3 - 1
1-152279738-C-T c.7624G>A p.D2542N Missense 3/3 - 6
1-152279739-G-A c.7623C>T p.A2541= Synonymous 3/3 - 1
1-152279739-G-C c.7623C>G p.A2541= Synonymous 3/3 - 1
1-152279739-G-T c.7623C>A p.A2541= Synonymous 3/3 - 3
1-152279742-C-T c.7620G>A p.R2540= Synonymous 3/3 - 2
1-152279743-C-A c.7619G>T p.R2540L Missense 3/3 - 1
1-152279743-C-T c.7619G>A p.R2540Q Missense 3/3 - 7
1-152279742-C-A c.7620G>T p.R2540= Synonymous 3/3 - 1
1-152279742-C-G c.7620G>C p.R2540= Synonymous 3/3 - 1
1-152279744-G-A c.7618C>T p.R2540W Missense 3/3 - 4
1-152279744-G-T c.7618C>A p.R2540= Synonymous 3/3 - 1
1-152279746-G-A c.7616C>T p.S2539F Missense 3/3 - 1
1-152279749-G-A c.7613C>T p.S2538F Missense 3/3 - 4
1-152279750-A-C c.7612T>G p.S2538A Missense 3/3 - 1
1-152279751-A-T c.7611T>A p.A2537= Synonymous 3/3 - 1
1-152279756-C-T c.7606G>A p.E2536K Missense 3/3 - 1
1-152279758-T-G c.7604A>C p.H2535P Missense 3/3 - 1
1-152279759-G-A c.7603C>T p.H2535Y Missense 3/3 - 6
1-152279760-G-A c.7602C>T p.H2534= Synonymous 3/3 - 2
1-152279764-C-T c.7598G>A p.R2533H Missense 3/3 - 5
1-152279765-G-C c.7597C>G p.R2533G Missense 3/3 - 1
1-152279766-C-A c.7596G>T p.S2532= Synonymous 3/3 - 3
1-152279766-C-G c.7596G>C p.S2532= Synonymous 3/3 - 2
1-152279766-C-T c.7596G>A p.S2532= Synonymous 3/3 - 9
1-152279767-G-A c.7595C>T p.S2532L Missense 3/3 - 11
1-152279767-G-T c.7595C>A p.S2532* Nonsense 3/3 - 1
1-152279770-C-T c.7592G>A p.G2531E Missense 3/3 - 1
1-152279771-C-T c.7591G>A p.G2531R Missense 3/3 - 1
1-152279775-G-A c.7587C>T p.H2529= Synonymous 3/3 - 1
1-152279776-T-C c.7586A>G p.H2529R Missense 3/3 - 1
1-152279778-CCT-ATG c.7582_7584delinsCAT p.R2528H Missense 3/3 - 1
1-152279782-G-A c.7580C>T p.S2527F Missense 3/3 - 1
1-152279782-G-T c.7580C>A p.S2527Y Missense 3/3 - 1
1-152279784-G-A c.7578C>T p.G2526= Synonymous 3/3 - 1
1-152279785-C-T c.7577G>A p.G2526D Missense 3/3 - 4
1-152279786-C-T c.7576G>A p.G2526S Missense 3/3 - 4
1-152279789-C-T c.7573G>A p.D2525N Missense 3/3 - 2
1-152279790-T-A c.7572A>T p.G2524= Synonymous 3/3 - 1
1-152279790-T-C c.7572A>G p.G2524= Synonymous 3/3 - 1
1-152279790-TCC-GCT c.7570_7572delinsAGC p.G2524S Missense 3/3 - 1
1-152279790-T-G c.7572A>C p.G2524= Synonymous 3/3 - 1
1-152279796-T-C c.7566A>G p.Q2522= Synonymous 3/3 - 4
1-152279801-C-T c.7561G>A p.E2521K Missense 3/3 - 2
1-152279804-C-G c.7558G>C p.D2520H Missense 3/3 - 1
1-152279804-C-T c.7558G>A p.D2520N Missense 3/3 - 14
1-152279805-G-A c.7557C>T p.N2519= Synonymous 3/3 - 6
1-152279806-T-G c.7556A>C p.N2519T Missense 3/3 - 1
1-152279807-T-A c.7555A>T p.N2519Y Missense 3/3 - 1
1-152279809-C-T c.7553G>A p.R2518H Missense 3/3 - 2
1-152279810-G-A c.7552C>T p.R2518C Missense 3/3 - 1
1-152279810-G-T c.7552C>A p.R2518S Missense 3/3 - 1
1-152279818-C-T c.7544G>A p.R2515K Missense 3/3 - 1
1-152279820-G-C c.7542C>G p.S2514R Missense 3/3 - 1
1-152279824-G-A c.7538C>T p.A2513V Missense 3/3 - 1
1-152279826-A-C c.7536T>G p.S2512R Missense 3/3 - 4
1-152279826-A-T c.7536T>A p.S2512R Missense 3/3 - 4
1-152279828-T-G c.7534A>C p.S2512R Missense 3/3 - 9
1-152279827-C-T c.7535G>A p.S2512N Missense 3/3 - 1
1-152279828-T-C c.7534A>G p.S2512G Missense 3/3 - 3
1-152279829-T-C c.7533A>G p.R2511= Synonymous 3/3 - 2
1-152279831-T-G c.7531A>C p.R2511= Synonymous 3/3 - 4
1-152279833-G-T c.7529C>A p.S2510Y Missense 3/3 - 1
1-152279834-A-T c.7528T>A p.S2510T Missense 3/3 - 3
1-152279836-C-T c.7526G>A p.G2509E Missense 3/3 - 9
1-152279837-C-T c.7525G>A p.G2509R Missense 3/3 - 2
1-152279838-T-A c.7524A>T p.S2508= Synonymous 3/3 - 2
1-152279838-T-C c.7524A>G p.S2508= Synonymous 3/3 - 2
1-152279838-T-G c.7524A>C p.S2508= Synonymous 3/3 - 2
1-152279841-G-A c.7521C>T p.H2507= Synonymous 3/3 - 2
1-152279841-G-C c.7521C>G p.H2507Q Missense 3/3 - 24
1-152279841-G-T c.7521C>A p.H2507Q Missense 3/3 - 3
1-152279842-T-G c.7520A>C p.H2507P Missense 3/3 - 1
1-152279843-G-C c.7519C>G p.H2507D Missense 3/3 - 1
1-152279843-G-T c.7519C>A p.H2507N Missense 3/3 - 2
1-152279846-C-A c.7516G>T p.G2506W Missense 3/3 - 1
1-152279848-T-C c.7514A>G p.H2505R Missense 3/3 - 10
1-152279849-G-T c.7513C>A p.H2505N Missense 3/3 - 3
1-152279850-G-A c.7512C>T p.S2504= Synonymous 3/3 - 3
1-152279850-G-C c.7512C>G p.S2504= Synonymous 3/3 - 1
1-152279850-G-T c.7512C>A p.S2504= Synonymous 3/3 - 2
1-152279851-G-A c.7511C>T p.S2504F Missense 3/3 - 1
1-152279853-G-A c.7509C>T p.A2503= Synonymous 3/3 - 1
1-152279854-G-A c.7508C>T p.A2503V Missense 3/3 - 5
1-152279858-C-G c.7504G>C p.D2502H Missense 3/3 - 1
1-152279860-G-A c.7502C>T p.S2501F Missense 3/3 - 6
1-152279860-G-T c.7502C>A p.S2501Y Missense 3/3 - 1
1-152279862-C-A c.7500G>T p.R2500S Missense 3/3 - 6
1-152279862-C-G c.7500G>C p.R2500S Missense 3/3 - 2
1-152279863-C-A c.7499G>T p.R2500M Missense 3/3 - 1
1-152279866-C-T c.7496G>A p.G2499E Missense 3/3 - 3
1-152279872-G-A c.7490C>T p.S2497F Missense 3/3 - 5
1-152279873-A-G c.7489T>C p.S2497P Missense 3/3 - 9
1-152279875-TG-T c.7487del p.T2496Nfs*104 Frameshift 3/3 - 6
1-152279878-G-A c.7484C>T p.T2495I Missense 3/3 - 4
1-152279880-G-A c.7482C>T p.H2494= Synonymous 3/3 - 1
1-152279887-T-G c.7475A>C p.H2492P Missense 3/3 - 2
1-152279888-G-A c.7474C>T p.H2492Y Missense 3/3 - 2
1-152279889-A-C c.7473T>G p.H2491Q Missense 3/3 - 2
1-152279889-A-T c.7473T>A p.H2491Q Missense 3/3 - 2
1-152279890-T-G c.7472A>C p.H2491P Missense 3/3 - 1
1-152279892-A-C c.7470T>G p.S2490= Synonymous 3/3 - 1
1-152279892-A-G c.7470T>C p.S2490= Synonymous 3/3 - 3
1-152279892-A-T c.7470T>A p.S2490= Synonymous 3/3 - 1
1-152279895-C-T c.7467G>A p.G2489= Synonymous 3/3 - 1
1-152279896-C-A c.7466G>T p.G2489V Missense 3/3 - 2
1-152279897-C-A c.7465G>T p.G2489W Missense 3/3 - 2
1-152279897-C-T c.7465G>A p.G2489R Missense 3/3 - 2
1-152279899-G-C c.7463C>G p.S2488* Nonsense 3/3 - 1
1-152279901-G-A c.7461C>T p.H2487= Synonymous 3/3 - 1
1-152279903-G-T c.7459C>A p.H2487N Missense 3/3 - 1
1-152279908-G-T c.7454C>A p.S2485Y Missense 3/3 - 1
1-152279912-T-TA c.7449dup p.R2484* Nonsense 3/3 - 1
1-152279915-C-G c.7447G>C p.D2483H Missense 3/3 - 1
1-152279917-A-G c.7445T>C p.V2482A Missense 3/3 - 2
1-152279920-A-G c.7442T>C p.L2481S Missense 3/3 - 20
1-152279919-C-T c.7443G>A p.L2481= Synonymous 3/3 - 4
1-152279921-A-G c.7441T>C p.L2481= Synonymous 3/3 - 3
1-152279925-C-A c.7437G>T p.E2479D Missense 3/3 - 1
1-152279925-C-G c.7437G>C p.E2479D Missense 3/3 - 1
1-152279926-T-G c.7436A>C p.E2479A Missense 3/3 - 2
1-152279930-A-G c.7432T>C p.Y2478H Missense 3/3 - 1
1-152279933-G-T c.7429C>A p.H2477N Missense 3/3 - 2
1-152279935-G-A c.7427C>T p.S2476F Missense 3/3 - 1
1-152279935-G-T c.7427C>A p.S2476Y Missense 3/3 - 3
1-152279938-CC-GT c.7423_7424delinsAC p.G2475T Missense 3/3 - 4
1-152279938-C-G c.7424G>C p.G2475A Missense 3/3 - 4
1-152279939-C-A c.7423G>T p.G2475* Nonsense 3/3 - 4
1-152279940-C-A c.7422G>T p.Q2474H Missense 3/3 - 4
1-152279940-C-G c.7422G>C p.Q2474H Missense 3/3 - 2
1-152279942-G-C c.7420C>G p.Q2474E Missense 3/3 - 6
1-152279943-C-A c.7419G>T p.R2473S Missense 3/3 - 3
1-152279943-C-G c.7419G>C p.R2473S Missense 3/3 - 2
1-152279947-C-T c.7415G>A p.G2472E Missense 3/3 - 2
1-152279948-C-A c.7414G>T p.G2472* Nonsense 3/3 - 1
1-152279948-C-G c.7414G>C p.G2472R Missense 3/3 - 1
1-152279948-C-T c.7414G>A p.G2472R Missense 3/3 - 1
1-152279949-TC-GT c.7412_7413delinsAC p.G2471D Missense 3/3 - 1
1-152279951-C-G c.7411G>C p.G2471R Missense 3/3 - 1
1-152279951-C-T c.7411G>A p.G2471R Missense 3/3 - 4
1-152279952-A-C c.7410T>G p.S2470R Missense 3/3 - 3
1-152279952-A-T c.7410T>A p.S2470R Missense 3/3 - 6
1-152279954-T-G c.7408A>C p.S2470R Missense 3/3 - 3
1-152279953-C-G c.7409G>C p.S2470T Missense 3/3 - 1
1-152279957-T-C c.7405A>G p.S2469G Missense 3/3 - 1
1-152279959-G-C c.7403C>G p.S2468* Nonsense 3/3 - 4
1-152279959-G-T c.7403C>A p.S2468* Nonsense 3/3 - 2
1-152279962-C-T c.7400G>A p.G2467E Missense 3/3 - 1
1-152279963-C-T c.7399G>A p.G2467R Missense 3/3 - 1
1-152279964-C-A c.7398G>T p.P2466= Synonymous 3/3 - 7
1-152279964-C-G c.7398G>C p.P2466= Synonymous 3/3 - 1
1-152279964-C-T c.7398G>A p.P2466= Synonymous 3/3 - 9
1-152279965-G-A c.7397C>T p.P2466L Missense 3/3 - 5
1-152279965-G-T c.7397C>A p.P2466Q Missense 3/3 - 7
1-152279971-C-T c.7391G>A p.G2464E Missense 3/3 - 3
1-152279972-C-T c.7390G>A p.G2464R Missense 3/3 - 2
1-152279974-T-C c.7388A>G p.H2463R Missense 3/3 - 2
1-152279974-T-G c.7388A>C p.H2463P Missense 3/3 - 1
1-152279975-G-C c.7387C>G p.H2463D Missense 3/3 - 10
1-152279980-G-A c.7382C>T p.T2461I Missense 3/3 - 1
1-152279980-G-T c.7382C>A p.T2461N Missense 3/3 - 1
1-152279982-G-C c.7380C>G p.D2460E Missense 3/3 - 4
1-152279982-G-T c.7380C>A p.D2460E Missense 3/3 - 6
1-152279984-C-A c.7378G>T p.D2460Y Missense 3/3 - 1
1-152279984-C-T c.7378G>A p.D2460N Missense 3/3 - 3
1-152279987-G-C c.7375C>G p.Q2459E Missense 3/3 - 4
1-152279988-A-C c.7374T>G p.G2458= Synonymous 3/3 - 1
1-152279988-A-G c.7374T>C p.G2458= Synonymous 3/3 - 1
1-152279988-A-T c.7374T>A p.G2458= Synonymous 3/3 - 3
1-152279990-C-A c.7372G>T p.G2458C Missense 3/3 - 2
1-152279991-C-T c.7371G>A p.E2457= Synonymous 3/3 - 4
1-152279993-C-T c.7369G>A p.E2457K Missense 3/3 - 3
1-152279996-G-T c.7366C>A p.Q2456K Missense 3/3 - 1
1-152279999-A-G c.7363T>C p.S2455P Missense 3/3 - 1
1-152279999-A-T c.7363T>A p.S2455T Missense 3/3 - 4
1-152280000-C-A c.7362G>T p.T2454= Synonymous 3/3 - 1
1-152280000-C-T c.7362G>A p.T2454= Synonymous 3/3 - 3
1-152280001-G-A c.7361C>T p.T2454M Missense 3/3 - 8
1-152280001-G-C c.7361C>G p.T2454R Missense 3/3 - 2
1-152280004-G-C c.7358C>G p.S2453* Nonsense 3/3 - 1
1-152280004-G-T c.7358C>A p.S2453* Nonsense 3/3 - 1
1-152280008-G-A c.7354C>T p.H2452Y Missense 3/3 - 3
1-152280008-G-T c.7354C>A p.H2452N Missense 3/3 - 1
1-152280009-C-T c.7353G>A p.R2451= Synonymous 3/3 - 1
1-152280012-G-A c.7350C>T p.S2450= Synonymous 3/3 - 2
1-152280012-G-C c.7350C>G p.S2450= Synonymous 3/3 - 1
1-152280012-G-T c.7350C>A p.S2450= Synonymous 3/3 - 1
1-152280014-A-G c.7348T>C p.S2450P Missense 3/3 - 1
1-152280015-G-A c.7347C>T p.S2449= Synonymous 3/3 - 2
1-152280021-TCG-ACA c.7339_7341delinsTGT p.R2447C Missense 3/3 - 1
1-152280022-C-T c.7340G>A p.R2447Q Missense 3/3 - 3
1-152280023-G-A c.7339C>T p.R2447* Nonsense 3/3 - 138
1-152280026-C-T c.7336G>A p.A2446T Missense 3/3 - 1
1-152280027-C-T c.7335G>A p.Q2445= Synonymous 3/3 - 1
1-152280029-G-T c.7333C>A p.Q2445K Missense 3/3 - 3
1-152280029-TG-T c.7333del p.Q2445Rfs*38 Frameshift 3/3 - 1
1-152280030-C-A c.7332G>T p.K2444N Missense 3/3 - 1
1-152280030-C-T c.7332G>A p.K2444= Synonymous 3/3 - 2
1-152280032-T-C c.7330A>G p.K2444E Missense 3/3 - 22
1-152280032-TGTG-T c.7327_7329del p.H2443del InFrameDeletion 3/3 - 1
1-152280037-T-C c.7325A>G p.H2442R Missense 3/3 - 3
1-152280042-T-A c.7320A>T p.G2440= Synonymous 3/3 - 1
1-152280042-T-C c.7320A>G p.G2440= Synonymous 3/3 - 1
1-152280042-T-G c.7320A>C p.G2440= Synonymous 3/3 - 1
1-152280043-C-G c.7319G>C p.G2440A Missense 3/3 - 6
1-152280044-C-G c.7318G>C p.G2440R Missense 3/3 - 1
1-152280044-C-T c.7318G>A p.G2440R Missense 3/3 - 1
1-152280045-T-A c.7317A>T p.Q2439H Missense 3/3 - 1
1-152280045-T-G c.7317A>C p.Q2439H Missense 3/3 - 1
1-152280049-CT-C c.7312del p.R2438Dfs*45 Frameshift 3/3 - 1
1-152280052-C-A c.7310G>T p.G2437V Missense 3/3 - 1
1-152280052-C-T c.7310G>A p.G2437E Missense 3/3 - 8
1-152280053-C-A c.7309G>T p.G2437* Nonsense 3/3 - 3
1-152280055-C-G c.7307G>C p.G2436A Missense 3/3 - 1
1-152280055-C-T c.7307G>A p.G2436E Missense 3/3 - 3
1-152280056-C-G c.7306G>C p.G2436R Missense 3/3 - 4
1-152280056-C-T c.7306G>A p.G2436R Missense 3/3 - 6
1-152280058-G-T c.7304C>A p.T2435N Missense 3/3 - 1
1-152280060-G-C c.7302C>G p.S2434R Missense 3/3 - 1
1-152280060-G-T c.7302C>A p.S2434R Missense 3/3 - 2
1-152280062-T-G c.7300A>C p.S2434R Missense 3/3 - 1
1-152280061-C-A c.7301G>T p.S2434I Missense 3/3 - 3
1-152280065-T-C c.7297A>G p.T2433A Missense 3/3 - 4
1-152280068-C-G c.7294G>C p.G2432R Missense 3/3 - 4
1-152280068-C-T c.7294G>A p.G2432R Missense 3/3 - 4
1-152280069-G-A c.7293C>T p.T2431= Synonymous 3/3 - 2
1-152280069-G-C c.7293C>G p.T2431= Synonymous 3/3 - 1
1-152280069-G-T c.7293C>A p.T2431= Synonymous 3/3 - 1
1-152280070-G-A c.7292C>T p.T2431I Missense 3/3 - 3
1-152280073-C-T c.7289G>A p.R2430Q Missense 3/3 - 8
1-152280072-C-T c.7290G>A p.R2430= Synonymous 3/3 - 1
1-152280074-G-A c.7288C>T p.R2430W Missense 3/3 - 5
1-152280076-C-T c.7286G>A p.G2429E Missense 3/3 - 4
1-152280079-T-C c.7283A>G p.H2428R Missense 3/3 - 1
1-152280080-G-T c.7282C>A p.H2428N Missense 3/3 - 1
1-152280081-G-A c.7281C>T p.A2427= Synonymous 3/3 - 2
1-152280081-G-C c.7281C>G p.A2427= Synonymous 3/3 - 2
1-152280081-G-T c.7281C>A p.A2427= Synonymous 3/3 - 3
1-152280083-C-A c.7279G>T p.A2427S Missense 3/3 - 1
1-152280083-C-T c.7279G>A p.A2427T Missense 3/3 - 3
1-152280084-G-A c.7278C>T p.S2426= Synonymous 3/3 - 2
1-152280084-G-C c.7278C>G p.S2426= Synonymous 3/3 - 2
1-152280084-G-T c.7278C>A p.S2426= Synonymous 3/3 - 2
1-152280085-G-T c.7277C>A p.S2426Y Missense 3/3 - 1
1-152280087-C-A c.7275G>T p.E2425D Missense 3/3 - 5
1-152280087-C-G c.7275G>C p.E2425D Missense 3/3 - 6
1-152280087-C-T c.7275G>A p.E2425= Synonymous 3/3 - 1
1-152280088-T-A c.7274A>T p.E2425V Missense 3/3 - 6
1-152280091-G-A c.7271C>T p.S2424F Missense 3/3 - 1
1-152280093-CTG-C c.7267_7268del p.Q2423Vfs*2 Frameshift 3/3 - 1
1-152280098-C-A c.7264G>T p.E2422* Nonsense 3/3 - 28
1-152280098-C-T c.7264G>A p.E2422K Missense 3/3 - 5
1-152280101-G-C c.7261C>G p.H2421D Missense 3/3 - 1
1-152280103-G-T c.7259C>A p.T2420N Missense 3/3 - 1
1-152280110-C-T c.7252G>A p.V2418M Missense 3/3 - 3
1-152280111-C-T c.7251G>A p.Q2417= Synonymous 3/3 - 2
1-152280112-T-C c.7250A>G p.Q2417R Missense 3/3 - 1
1-152280113-G-A c.7249C>T p.Q2417* Nonsense 3/3 - 15
1-152280113-G-C c.7249C>G p.Q2417E Missense 3/3 - 2
1-152280118-A-T c.7244T>A p.L2415H Missense 3/3 - 3
1-152280119-G-A c.7243C>T p.L2415F Missense 3/3 - 2
1-152280119-G-T c.7243C>A p.L2415I Missense 3/3 - 4
1-152280120-G-A c.7242C>T p.F2414= Synonymous 3/3 - 1
1-152280121-A-G c.7241T>C p.F2414S Missense 3/3 - 5
1-152280124-G-A c.7238C>T p.S2413F Missense 3/3 - 4
1-152280126-C-T c.7236G>A p.G2412= Synonymous 3/3 - 2
1-152280127-C-T c.7235G>A p.G2412E Missense 3/3 - 1
1-152280128-C-G c.7234G>C p.G2412R Missense 3/3 - 1
1-152280128-C-T c.7234G>A p.G2412R Missense 3/3 - 1
1-152280131-A-G c.7231T>C p.S2411P Missense 3/3 - 1
1-152280132-AC-TT c.7229_7230delinsAA p.R2410Q Missense 3/3 - 1
1-152280133-C-T c.7229G>A p.R2410H Missense 3/3 - 4
1-152280134-G-A c.7228C>T p.R2410C Missense 3/3 - 6
1-152280141-C-A c.7221G>T p.R2407S Missense 3/3 - 2
1-152280141-C-G c.7221G>C p.R2407S Missense 3/3 - 3
1-152280142-C-G c.7220G>C p.R2407T Missense 3/3 - 1
1-152280144-T-TTCC c.7217_7218insGGA p.G2406_R2407insE InFrameInsertion 3/3 - 1
1-152280145-C-A c.7217G>T p.G2406V Missense 3/3 - 1
1-152280145-C-G c.7217G>C p.G2406A Missense 3/3 - 1
1-152280145-C-T c.7217G>A p.G2406E Missense 3/3 - 4
1-152280147-CTG-C c.7214_7215del p.A2405Gfs*17 Frameshift 3/3 - 1
1-152280147-T-C c.7215A>G p.A2405= Synonymous 3/3 - 1
1-152280148-G-C c.7214C>G p.A2405G Missense 3/3 - 1
1-152280148-G-T c.7214C>A p.A2405E Missense 3/3 - 1
1-152280149-C-G c.7213G>C p.A2405P Missense 3/3 - 1
1-152280149-C-T c.7213G>A p.A2405T Missense 3/3 - 1
1-152280151-G-C c.7211C>G p.S2404* Nonsense 3/3 - 1
1-152280154-C-A c.7208G>T p.R2403L Missense 3/3 - 2
1-152280154-C-G c.7208G>C p.R2403P Missense 3/3 - 1
1-152280154-C-T c.7208G>A p.R2403Q Missense 3/3 - 1
1-152280155-G-A c.7207C>T p.R2403W Missense 3/3 - 4
1-152280160-C-T c.7202G>A p.R2401H Missense 3/3 - 1
1-152280161-G-A c.7201C>T p.R2401C Missense 3/3 - 6
1-152280164-T-C c.7198A>G p.T2400A Missense 3/3 - 2
1-152280166-G-A c.7196C>T p.S2399F Missense 3/3 - 1
1-152280167-A-G c.7195T>C p.S2399P Missense 3/3 - 1
1-152280168-C-T c.7194G>A p.E2398= Synonymous 3/3 - 2
1-152280170-C-G c.7192G>C p.E2398Q Missense 3/3 - 18
1-152280170-C-T c.7192G>A p.E2398K Missense 3/3 - 2
1-152280173-G-A c.7189C>T p.Q2397* Nonsense 3/3 - 2
1-152280174-G-A c.7188C>T p.H2396= Synonymous 3/3 - 1
1-152280174-G-T c.7188C>A p.H2396Q Missense 3/3 - 1
1-152280175-T-C c.7187A>G p.H2396R Missense 3/3 - 2
1-152280177-G-C c.7185C>G p.S2395R Missense 3/3 - 1
1-152280177-G-T c.7185C>A p.S2395R Missense 3/3 - 2
1-152280179-T-G c.7183A>C p.S2395R Missense 3/3 - 1
1-152280181-T-A c.7181A>T p.Q2394L Missense 3/3 - 1
1-152280182-G-A c.7180C>T p.Q2394* Nonsense 3/3 - 1
1-152280186-A-C c.7176T>G p.H2392Q Missense 3/3 - 2
1-152280186-A-T c.7176T>A p.H2392Q Missense 3/3 - 3
1-152280189-G-A c.7173C>T p.P2391= Synonymous 3/3 - 1
1-152280189-G-C c.7173C>G p.P2391= Synonymous 3/3 - 2
1-152280189-G-T c.7173C>A p.P2391= Synonymous 3/3 - 1
1-152280187-TG-T c.7174del p.H2392Ifs*27 Frameshift 3/3 - 1
1-152280191-G-A c.7171C>T p.P2391S Missense 3/3 - 2
1-152280193-C-G c.7169G>C p.G2390A Missense 3/3 - 1
1-152280194-C-G c.7168G>C p.G2390R Missense 3/3 - 1
1-152280194-C-T c.7168G>A p.G2390R Missense 3/3 - 2
1-152280196-G-A c.7166C>T p.A2389V Missense 3/3 - 1
1-152280197-C-T c.7165G>A p.A2389T Missense 3/3 - 2
1-152280203-C-G c.7159G>C p.G2387R Missense 3/3 - 1
1-152280203-C-T c.7159G>A p.G2387R Missense 3/3 - 2
1-152280204-G-A c.7158C>T p.H2386= Synonymous 3/3 - 1
1-152280204-G-C c.7158C>G p.H2386Q Missense 3/3 - 1
1-152280204-G-T c.7158C>A p.H2386Q Missense 3/3 - 1
1-152280208-G-C c.7154C>G p.A2385G Missense 3/3 - 1
1-152280210-CTGA-C c.7150_7152del p.S2384del InFrameDeletion 3/3 - 1
1-152280215-C-CCTGT c.7146_7147insACAG p.V2383Tfs*41 Frameshift 3/3 - 1
1-152280220-T-C c.7142A>G p.Q2381R Missense 3/3 - 2
1-152280221-G-A c.7141C>T p.Q2381* Nonsense 3/3 - 1
1-152280226-T-C c.7136A>G p.D2379G Missense 3/3 - 1
1-152280227-C-CA c.7134_7135insT p.D2379* Nonsense 3/3 - 1
1-152280233-C-T c.7129G>A p.D2377N Missense 3/3 - 1
1-152280236-C-G c.7126G>C p.E2376Q Missense 3/3 - 1
1-152280236-C-T c.7126G>A p.E2376K Missense 3/3 - 2
1-152280243-T-A c.7119A>T p.G2373= Synonymous 3/3 - 1
1-152280243-T-C c.7119A>G p.G2373= Synonymous 3/3 - 1
1-152280243-T-G c.7119A>C p.G2373= Synonymous 3/3 - 1
1-152280244-C-T c.7118G>A p.G2373E Missense 3/3 - 2
1-152280248-C-T c.7114G>A p.E2372K Missense 3/3 - 3
1-152280249-A-C c.7113T>G p.S2371R Missense 3/3 - 1
1-152280249-A-T c.7113T>A p.S2371R Missense 3/3 - 1
1-152280251-T-G c.7111A>C p.S2371R Missense 3/3 - 1
1-152280250-C-T c.7112G>A p.S2371N Missense 3/3 - 2
1-152280260-C-A c.7102G>T p.A2368S Missense 3/3 - 1
1-152280261-C-A c.7101G>T p.Q2367H Missense 3/3 - 2
1-152280261-C-G c.7101G>C p.Q2367H Missense 3/3 - 1
1-152280264-A-G c.7098T>C p.S2366= Synonymous 3/3 - 1
1-152280265-C-G c.7097G>C p.S2366T Missense 3/3 - 19
1-152280268-C-T c.7094G>A p.G2365D Missense 3/3 - 1
1-152280270-A-T c.7092T>A p.S2364R Missense 3/3 - 1
1-152280273-G-T c.7089C>A p.S2363= Synonymous 3/3 - 1
1-152280274-GA-CG c.7087_7088delinsCG p.S2363R Missense 3/3 - 1
1-152280274-G-T c.7088C>A p.S2363Y Missense 3/3 - 5
1-152280277-C-G c.7085G>C p.G2362A Missense 3/3 - 1
1-152280279-T-C c.7083A>G p.R2361= Synonymous 3/3 - 2
1-152280280-C-T c.7082G>A p.R2361Q Missense 3/3 - 2
1-152280279-T-A c.7083A>T p.R2361= Synonymous 3/3 - 1
1-152280279-T-G c.7083A>C p.R2361= Synonymous 3/3 - 1
1-152280281-G-A c.7081C>T p.R2361* Nonsense 3/3 - 2
1-152280281-G-T c.7081C>A p.R2361= Synonymous 3/3 - 1
1-152280282-G-A c.7080C>T p.H2360= Synonymous 3/3 - 1
1-152280282-G-C c.7080C>G p.H2360Q Missense 3/3 - 4
1-152280282-G-T c.7080C>A p.H2360Q Missense 3/3 - 3
1-152280283-GT-G c.7079del p.H2360Pfs*59 Frameshift 3/3 - 1
1-152280286-C-T c.7076G>A p.G2359E Missense 3/3 - 1
1-152280287-C-G c.7075G>C p.G2359R Missense 3/3 - 1
1-152280287-C-T c.7075G>A p.G2359R Missense 3/3 - 2
1-152280289-C-G c.7073G>C p.S2358T Missense 3/3 - 1
1-152280299-C-G c.7063G>C p.V2355L Missense 3/3 - 1
1-152280301-G-A c.7061C>T p.A2354V Missense 3/3 - 2
1-152280302-C-T c.7060G>A p.A2354T Missense 3/3 - 2
1-152280304-G-C c.7058C>G p.S2353C Missense 3/3 - 1
1-152280305-A-C c.7057T>G p.S2353A Missense 3/3 - 1
1-152280307-G-C c.7055C>G p.S2352* Nonsense 3/3 - 1
1-152280307-G-T c.7055C>A p.S2352* Nonsense 3/3 - 1
1-152280312-T-C c.7050A>G p.Q2350= Synonymous 3/3 - 1
1-152280316-C-T c.7046G>A p.G2349E Missense 3/3 - 4
1-152280317-C-G c.7045G>C p.G2349R Missense 3/3 - 4
1-152280317-C-T c.7045G>A p.G2349R Missense 3/3 - 4
1-152280318-G-A c.7044C>T p.H2348= Synonymous 3/3 - 4
1-152280322-C-G c.7040G>C p.G2347A Missense 3/3 - 1
1-152280322-C-T c.7040G>A p.G2347E Missense 3/3 - 1
1-152280325-A-G c.7037T>C p.I2346T Missense 3/3 - 1
1-152280325-A-T c.7037T>A p.I2346N Missense 3/3 - 1
1-152280330-T-A c.7032A>T p.S2344= Synonymous 3/3 - 1
1-152280331-G-C c.7031C>G p.S2344* Nonsense 3/3 - 3
1-152280331-G-T c.7031C>A p.S2344* Nonsense 3/3 - 3
1-152280336-TCT-ATG c.7024_7026delinsCAT p.R2342H Missense 3/3 - 1
1-152280335-GTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTC-G c.6982_7026del p.E2328_R2342del InFrameDeletion 3/3 - 1
1-152280338-T-A c.7024A>T p.R2342* Nonsense 3/3 - 1
1-152280338-T-C c.7024A>G p.R2342G Missense 3/3 - 1
1-152280340-G-A c.7022C>T p.S2341F Missense 3/3 - 1
1-152280340-G-T c.7022C>A p.S2341Y Missense 3/3 - 1
1-152280343-C-T c.7019G>A p.S2340N Missense 3/3 - 1
1-152280345-G-A c.7017C>T p.D2339= Synonymous 3/3 - 1
1-152280347-C-T c.7015G>A p.D2339N Missense 3/3 - 20
1-152280349-G-A c.7013C>T p.A2338V Missense 3/3 - 1
1-152280349-G-T c.7013C>A p.A2338E Missense 3/3 - 2
1-152280355-T-A c.7007A>T p.Q2336L Missense 3/3 - 1
1-152280357-C-T c.7005G>A p.Q2335= Synonymous 3/3 - 1
1-152280359-G-A c.7003C>T p.Q2335* Nonsense 3/3 - 2
1-152280359-G-T c.7003C>A p.Q2335K Missense 3/3 - 1
1-152280360-G-C c.7002C>G p.H2334Q Missense 3/3 - 2
1-152280360-G-T c.7002C>A p.H2334Q Missense 3/3 - 3
1-152280362-G-A c.7000C>T p.H2334Y Missense 3/3 - 1
1-152280364-T-C c.6998A>G p.H2333R Missense 3/3 - 2
1-152280365-G-T c.6997C>A p.H2333N Missense 3/3 - 9
1-152280370-C-T c.6992G>A p.G2331E Missense 3/3 - 3
1-152280371-C-G c.6991G>C p.G2331R Missense 3/3 - 3
1-152280371-C-T c.6991G>A p.G2331R Missense 3/3 - 3
1-152280372-G-A c.6990C>T p.H2330= Synonymous 3/3 - 14
1-152280378-C-T c.6984G>A p.E2328= Synonymous 3/3 - 2
1-152280380-C-T c.6982G>A p.E2328K Missense 3/3 - 6
1-152280386-C-G c.6976G>C p.A2326P Missense 3/3 - 2
1-152280388-C-A c.6974G>T p.S2325I Missense 3/3 - 1
1-152280391-G-A c.6971C>T p.S2324L Missense 3/3 - 4
1-152280394-C-G c.6968G>C p.R2323T Missense 3/3 - 1
1-152280396-TGCCTGTTCATGGGATGATGCA-T c.6945_6965del p.A2316_A2322del InFrameDeletion 3/3 - 1
1-152280403-T-G c.6959A>C p.E2320A Missense 3/3 - 1
1-152280404-C-A c.6958G>T p.E2320* Nonsense 3/3 - 1
1-152280404-C-T c.6958G>A p.E2320K Missense 3/3 - 1
1-152280404-CATGGGATG-C c.6950_6957del p.S2317* Frameshift 3/3 - 6
1-152280409-G-A c.6953C>T p.S2318F Missense 3/3 - 4
1-152280412-G-A c.6950C>T p.S2317L Missense 3/3 - 1
1-152280412-G-C c.6950C>G p.S2317* Nonsense 3/3 - 1
1-152280412-G-T c.6950C>A p.S2317* Nonsense 3/3 - 1
1-152280412-TG-T c.6950del p.S2317Yfs*102 Frameshift 3/3 - 4
1-152280414-T-C c.6948A>G p.A2316= Synonymous 3/3 - 1
1-152280420-C-T c.6942G>A p.Q2314= Synonymous 3/3 - 1
1-152280423-T-C c.6939A>G p.G2313= Synonymous 3/3 - 1
1-152280426-A-C c.6936T>G p.G2312= Synonymous 3/3 - 3
1-152280426-A-G c.6936T>C p.G2312= Synonymous 3/3 - 3
1-152280426-A-T c.6936T>A p.G2312= Synonymous 3/3 - 3
1-152280429-A-T c.6933T>A p.S2311= Synonymous 3/3 - 2
1-152280433-G-A c.6929C>T p.S2310F Missense 3/3 - 2
1-152280433-G-C c.6929C>G p.S2310C Missense 3/3 - 1
1-152280433-G-T c.6929C>A p.S2310Y Missense 3/3 - 1
1-152280436-T-G c.6926A>C p.N2309T Missense 3/3 - 1
1-152280438-C-A c.6924G>T p.E2308D Missense 3/3 - 1
1-152280438-C-G c.6924G>C p.E2308D Missense 3/3 - 1
1-152280440-C-G c.6922G>C p.E2308Q Missense 3/3 - 1
1-152280440-C-T c.6922G>A p.E2308K Missense 3/3 - 3
1-152280442-G-C c.6920C>G p.A2307G Missense 3/3 - 1
1-152280443-C-T c.6919G>A p.A2307T Missense 3/3 - 2
1-152280444-A-G c.6918T>C p.H2306= Synonymous 3/3 - 1
1-152280447-A-G c.6915T>C p.H2305= Synonymous 3/3 - 1
1-152280451-G-A c.6911C>T p.T2304I Missense 3/3 - 2
1-152280454-C-G c.6908G>C p.G2303A Missense 3/3 - 1
1-152280455-C-G c.6907G>C p.G2303R Missense 3/3 - 1
1-152280457-G-C c.6905C>G p.S2302* Nonsense 3/3 - 2
1-152280457-G-T c.6905C>A p.S2302* Nonsense 3/3 - 2
1-152280461-G-A c.6901C>T p.Q2301* Nonsense 3/3 - 1
1-152280465-G-T c.6897C>A p.S2299= Synonymous 3/3 - 1
1-152280468-AG-A c.6894del p.S2299Pfs*120 Frameshift 3/3 - 1
1-152280471-C-A c.6891G>T p.E2297D Missense 3/3 - 9
1-152280471-C-G c.6891G>C p.E2297D Missense 3/3 - 16
1-152280471-C-T c.6891G>A p.E2297= Synonymous 3/3 - 2
1-152280473-C-T c.6889G>A p.E2297K Missense 3/3 - 2
1-152280477-A-T c.6885T>A p.S2295= Synonymous 3/3 - 1
1-152280478-G-C c.6884C>G p.S2295C Missense 3/3 - 1
1-152280480-G-C c.6882C>G p.H2294Q Missense 3/3 - 1
1-152280480-G-T c.6882C>A p.H2294Q Missense 3/3 - 1
1-152280482-G-T c.6880C>A p.H2294N Missense 3/3 - 1
1-152280484-C-A c.6878G>T p.G2293V Missense 3/3 - 2
1-152280485-C-A c.6877G>T p.G2293W Missense 3/3 - 1
1-152280486-A-G c.6876T>C p.H2292= Synonymous 3/3 - 1
1-152280488-G-T c.6874C>A p.H2292N Missense 3/3 - 1
1-152280491-C-T c.6871G>A p.G2291S Missense 3/3 - 1
1-152280492-G-A c.6870C>T p.A2290= Synonymous 3/3 - 2
1-152280496-C-G c.6866G>C p.R2289T Missense 3/3 - 3
1-152280503-C-T c.6859G>A p.E2287K Missense 3/3 - 7
1-152280504-G-A c.6858C>T p.H2286= Synonymous 3/3 - 1
1-152280504-G-C c.6858C>G p.H2286Q Missense 3/3 - 1
1-152280504-G-T c.6858C>A p.H2286Q Missense 3/3 - 1
1-152280505-T-A c.6857A>T p.H2286L Missense 3/3 - 2
1-152280505-T-C c.6857A>G p.H2286R Missense 3/3 - 1
1-152280506-G-A c.6856C>T p.H2286Y Missense 3/3 - 2
1-152280510-G-A c.6852C>T p.S2284= Synonymous 3/3 - 1
1-152280511-G-A c.6851C>T p.S2284F Missense 3/3 - 4
1-152280511-G-T c.6851C>A p.S2284Y Missense 3/3 - 4
1-152280512-A-C c.6850T>G p.S2284A Missense 3/3 - 1
1-152280514-C-G c.6848G>C p.R2283T Missense 3/3 - 2
1-152280515-TGGG-T c.6844_6846del p.P2282del InFrameDeletion 3/3 - 1
1-152280517-G-T c.6845C>A p.P2282H Missense 3/3 - 1
1-152280523-C-G c.6839G>C p.R2280T Missense 3/3 - 1
1-152280524-CTGGAG-C c.6834_6838del p.S2279Tfs*40 Frameshift 3/3 - 3
1-152280526-G-A c.6836C>T p.S2279F Missense 3/3 - 1
1-152280526-GA-AG c.6835_6836delinsCT p.S2279L Missense 3/3 - 2
1-152280526-G-T c.6836C>A p.S2279Y Missense 3/3 - 1
1-152280528-AG-A c.6834del p.S2279Pfs*140 Frameshift 3/3 - 3
1-152280529-C-A c.6833G>T p.G2278V Missense 3/3 - 3
1-152280532-T-C c.6830A>G p.D2277G Missense 3/3 - 1
1-152280533-C-T c.6829G>A p.D2277N Missense 3/3 - 2
1-152280534-T-C c.6828A>G p.R2276= Synonymous 3/3 - 1
1-152280536-T-G c.6826A>C p.R2276= Synonymous 3/3 - 1
1-152280538-G-A c.6824C>T p.S2275L Missense 3/3 - 1
1-152280539-A-G c.6823T>C p.S2275P Missense 3/3 - 1
1-152280540-C-T c.6822G>A p.Q2274= Synonymous 3/3 - 4
1-152280544-T-G c.6818A>C p.E2273A Missense 3/3 - 1
1-152280545-C-T c.6817G>A p.E2273K Missense 3/3 - 5
1-152280546-C-T c.6816G>A p.Q2272= Synonymous 3/3 - 2
1-152280548-G-A c.6814C>T p.Q2272* Nonsense 3/3 - 2
1-152280551-C-A c.6811G>T p.A2271S Missense 3/3 - 3
1-152280556-C-T c.6806G>A p.G2269E Missense 3/3 - 1
1-152280559-T-C c.6803A>G p.H2268R Missense 3/3 - 21
1-152280562-T-A c.6800A>T p.H2267L Missense 3/3 - 3
1-152280563-G-T c.6799C>A p.H2267N Missense 3/3 - 1
1-152280565-T-C c.6797A>G p.N2266S Missense 3/3 - 1
1-152280568-C-G c.6794G>C p.R2265T Missense 3/3 - 1
1-152280568-C-T c.6794G>A p.R2265K Missense 3/3 - 1
1-152280569-T-C c.6793A>G p.R2265G Missense 3/3 - 1
1-152280573-C-A c.6789G>T p.A2263= Synonymous 3/3 - 8
1-152280573-C-G c.6789G>C p.A2263= Synonymous 3/3 - 6
1-152280573-C-T c.6789G>A p.A2263= Synonymous 3/3 - 6
1-152280574-G-A c.6788C>T p.A2263V Missense 3/3 - 1
1-152280574-G-T c.6788C>A p.A2263E Missense 3/3 - 1
1-152280575-C-T c.6787G>A p.A2263T Missense 3/3 - 1
1-152280576-A-G c.6786T>C p.S2262= Synonymous 3/3 - 1
1-152280577-G-C c.6785C>G p.S2262C Missense 3/3 - 1
1-152280577-G-T c.6785C>A p.S2262Y Missense 3/3 - 6
1-152280581-C-A c.6781G>T p.G2261W Missense 3/3 - 1
1-152280581-C-G c.6781G>C p.G2261R Missense 3/3 - 2
1-152280581-C-T c.6781G>A p.G2261R Missense 3/3 - 1
1-152280583-G-T c.6779C>A p.S2260Y Missense 3/3 - 1
1-152280586-C-G c.6776G>C p.R2259P Missense 3/3 - 1
1-152280586-CG-GT c.6775_6776delinsAC p.R2259T Missense 3/3 - 1
1-152280586-C-T c.6776G>A p.R2259Q Missense 3/3 - 6
1-152280587-G-A c.6775C>T p.R2259W Missense 3/3 - 3
1-152280588-C-T c.6774G>A p.R2258= Synonymous 3/3 - 1
1-152280589-C-T c.6773G>A p.R2258K Missense 3/3 - 1
1-152280590-T-C c.6772A>G p.R2258G Missense 3/3 - 2
1-152280591-C-A c.6771G>T p.E2257D Missense 3/3 - 1
1-152280591-C-G c.6771G>C p.E2257D Missense 3/3 - 1
1-152280591-C-T c.6771G>A p.E2257= Synonymous 3/3 - 1
1-152280593-C-G c.6769G>C p.E2257Q Missense 3/3 - 2
1-152280595-G-T c.6767C>A p.S2256Y Missense 3/3 - 1
1-152280597-A-G c.6765T>C p.D2255= Synonymous 3/3 - 2
1-152280598-T-A c.6764A>T p.D2255V Missense 3/3 - 1
1-152280602-C-T c.6760G>A p.E2254K Missense 3/3 - 2
1-152280610-C-T c.6752G>A p.G2251E Missense 3/3 - 4
1-152280611-C-CA c.6750_6751insT p.G2251Wfs*7 Frameshift 3/3 - 1
1-152280611-C-T c.6751G>A p.G2251R Missense 3/3 - 1
1-152280612-C-T c.6750G>A p.E2250= Synonymous 3/3 - 3
1-152280614-C-G c.6748G>C p.E2250Q Missense 3/3 - 4
1-152280616-C-A c.6746G>T p.S2249I Missense 3/3 - 1
1-152280620-C-A c.6742G>T p.D2248Y Missense 3/3 - 1
1-152280620-C-T c.6742G>A p.D2248N Missense 3/3 - 3
1-152280624-G-C c.6738C>G p.D2246E Missense 3/3 - 1
1-152280624-G-T c.6738C>A p.D2246E Missense 3/3 - 1
1-152280626-C-G c.6736G>C p.D2246H Missense 3/3 - 1
1-152280635-AC-A c.6727del p.V2243Lfs*176 Frameshift 3/3 - 2
1-152280635-C-A c.6727G>T p.V2243F Missense 3/3 - 1
1-152280636-A-T c.6726T>A p.S2242R Missense 3/3 - 1
1-152280639-G-A c.6723C>T p.S2241= Synonymous 3/3 - 1
1-152280644-C-G c.6718G>C p.G2240R Missense 3/3 - 2
1-152280644-C-T c.6718G>A p.G2240R Missense 3/3 - 6
1-152280646-C-T c.6716G>A p.R2239Q Missense 3/3 - 5
1-152280647-G-A c.6715C>T p.R2239W Missense 3/3 - 4
1-152280649-G-C c.6713C>G p.P2238R Missense 3/3 - 7
1-152280646-CG-C c.6715del p.R2239Gfs*180 Frameshift 3/3 - 1
1-152280650-G-A c.6712C>T p.P2238S Missense 3/3 - 2
1-152280650-G-C c.6712C>G p.P2238A Missense 3/3 - 1
1-152280651-C-A c.6711G>T p.R2237S Missense 3/3 - 1
1-152280651-C-G c.6711G>C p.R2237S Missense 3/3 - 1
1-152280658-G-C c.6704C>G p.T2235R Missense 3/3 - 6
1-152280658-G-T c.6704C>A p.T2235K Missense 3/3 - 1
1-152280659-T-A c.6703A>T p.T2235S Missense 3/3 - 1
1-152280660-C-T c.6702G>A p.R2234= Synonymous 3/3 - 1
1-152280662-T-G c.6700A>C p.R2234= Synonymous 3/3 - 1
1-152280663-G-A c.6699C>T p.P2233= Synonymous 3/3 - 1
1-152280663-G-C c.6699C>G p.P2233= Synonymous 3/3 - 1
1-152280663-G-T c.6699C>A p.P2233= Synonymous 3/3 - 1
1-152280665-G-A c.6697C>T p.P2233S Missense 3/3 - 6
1-152280665-GGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAA-G c.6639_6697del p.S2214Qfs*11 MultiAAMissense 3/3 - 1
1-152280666-C-A c.6696G>T p.G2232= Synonymous 3/3 - 3
1-152280666-C-G c.6696G>C p.G2232= Synonymous 3/3 - 2
1-152280666-C-T c.6696G>A p.G2232= Synonymous 3/3 - 2
1-152280667-C-A