LRP1B

LRP1B LDL receptor related protein 1B

Annotation transcript: NM_018557.3

12497 unique variant annotations were identified in 1858 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
2-140989513-G-A c.*1242C>T - 3-UTRSNV 91/91 - 2
2-140989513-G-T c.*1242C>A - 3-UTRSNV 91/91 - 2
2-140989843-A-G c.*912T>C - 3-UTRSNV 91/91 - 3
2-140990351-T-A c.*404A>T - 3-UTRSNV 91/91 - 3
2-140990759-G-T c.13796C>A p.A4599E Missense 91/91 - 1
2-140990760-C-T c.13795G>A p.A4599T Missense 91/91 - 1
2-140990761-C-A c.13794G>T p.V4598= Synonymous 91/91 - 4
2-140990761-C-G c.13794G>C p.V4598= Synonymous 91/91 - 3
2-140990761-C-T c.13794G>A p.V4598= Synonymous 91/91 - 3
2-140990763-C-T c.13792G>A p.V4598M Missense 91/91 - 2
2-140990765-G-T c.13790C>A p.T4597K Missense 91/91 - 2
2-140990769-C-A c.13786G>T p.E4596* Nonsense 91/91 - 4
2-140990769-C-T c.13786G>A p.E4596K Missense 91/91 - 4
2-140990770-T-A c.13785A>T p.R4595S Missense 91/91 - 2
2-140990771-C-G c.13784G>C p.R4595T Missense 91/91 - 2
2-140990771-C-T c.13784G>A p.R4595K Missense 91/91 - 3
2-140990772-T-A c.13783A>T p.R4595* Nonsense 91/91 - 3
2-140990775-T-C c.13780A>G p.I4594V Missense 91/91 - 4
2-140990776-A-G c.13779T>C p.G4593= Synonymous 91/91 - 1
2-140990777-C-G c.13778G>C p.G4593A Missense 91/91 - 1
2-140990778-C-A c.13777G>T p.G4593C Missense 91/91 - 8
2-140990778-C-G c.13777G>C p.G4593R Missense 91/91 - 2
2-140990778-C-T c.13777G>A p.G4593S Missense 91/91 - 3
2-140990780-A-G c.13775T>C p.I4592T Missense 91/91 - 2
2-140990781-T-C c.13774A>G p.I4592V Missense 91/91 - 1
2-140990783-T-C c.13772A>G p.E4591G Missense 91/91 - 1
2-140990783-T-G c.13772A>C p.E4591A Missense 91/91 - 1
2-140990784-C-A c.13771G>T p.E4591* Nonsense 91/91 - 3
2-140990784-C-G c.13771G>C p.E4591Q Missense 91/91 - 2
2-140990784-C-T c.13771G>A p.E4591K Missense 91/91 - 3
2-140990786-A-G c.13769T>C p.I4590T Missense 91/91 - 1
2-140990789-T-A c.13766A>T p.K4589I Missense 91/91 - 1
2-140990786-ATTTTC-A c.13764_13768del p.K4588Nfs*65 Frameshift 91/91 - 1
2-140990791-C-A c.13764G>T p.K4588N Missense 91/91 - 2
2-140990791-C-T c.13764G>A p.K4588= Synonymous 91/91 - 5
2-140990795-G-T c.13760C>A p.P4587Q Missense 91/91 - 4
2-140990794-TG-T c.13760del p.P4587Qfs*4 Frameshift 91/91 - 1
2-140990796-G-A c.13759C>T p.P4587S Missense 91/91 - 4
2-140990803-T-A c.13752A>T p.E4584D Missense 91/91 - 5
2-140990803-T-G c.13752A>C p.E4584D Missense 91/91 - 3
2-140990805-C-A c.13750G>T p.E4584* Nonsense 91/91 - 4
2-140990808-T-G c.13747A>C p.K4583Q Missense 91/91 - 1
2-140990809-C-T c.13746G>A p.R4582= Synonymous 91/91 - 1
2-140990810-C-T c.13745G>A p.R4582K Missense 91/91 - 1
2-140990813-T-A c.13742A>T p.E4581V Missense 91/91 - 1
2-140990813-T-C c.13742A>G p.E4581G Missense 91/91 - 1
2-140990814-C-A c.13741G>T p.E4581* Nonsense 91/91 - 1
2-140990814-C-T c.13741G>A p.E4581K Missense 91/91 - 2
2-140990816-T-C c.13739A>G p.D4580G Missense 91/91 - 1
2-140990816-T-G c.13739A>C p.D4580A Missense 91/91 - 2
2-140990819-A-G c.13736T>C p.V4579A Missense 91/91 - 1
2-140990822-C-A c.13733G>T p.S4578I Missense 91/91 - 1
2-140990822-C-T c.13733G>A p.S4578N Missense 91/91 - 1
2-140990825-C-T c.13730G>A p.G4577E Missense 91/91 - 2
2-140990826-C-A c.13729G>T p.G4577* Nonsense 91/91 - 5
2-140990827-T-C c.13728A>G p.L4576= Synonymous 91/91 - 1
2-140990829-A-G c.13726T>C p.L4576= Synonymous 91/91 - 1
2-140990830-G-A c.13725C>T p.S4575= Synonymous 91/91 - 6
2-140990830-G-C c.13725C>G p.S4575= Synonymous 91/91 - 3
2-140990830-G-T c.13725C>A p.S4575= Synonymous 91/91 - 1
2-140990831-G-A c.13724C>T p.S4575F Missense 91/91 - 4
2-140990833-G-C c.13722C>G p.N4574K Missense 91/91 - 2
2-140990833-G-T c.13722C>A p.N4574K Missense 91/91 - 2
2-140990837-C-A c.13718G>T p.R4573L Missense 91/91 - 5
2-140990837-C-T c.13718G>A p.R4573Q Missense 91/91 - 20
2-140990838-G-A c.13717C>T p.R4573* Nonsense 91/91 - 7
2-140990840-C-A c.13715G>T p.C4572F Missense 91/91 - 1
2-140990840-CA-GT c.13714_13715delinsAC p.C4572T Missense 91/91 - 1
2-140990843-T-C c.13712A>G p.N4571S Missense 91/91 - 1
2-140990846-T-C c.13709A>G p.Q4570R Missense 91/91 - 1
2-140990847-G-A c.13708C>T p.Q4570* Nonsense 91/91 - 2
2-140990847-G-T c.13708C>A p.Q4570K Missense 91/91 - 1
2-140990850-C-A c.13705G>T p.G4569W Missense 91/91 - 5
2-140990851-A-G c.13704T>C p.D4568= Synonymous 91/91 - 1
2-140990852-T-G c.13703A>C p.D4568A Missense 91/91 - 1
2-140990853-C-T c.13702G>A p.D4568N Missense 91/91 - 3
2-140990854-C-A c.13701G>T p.M4567I Missense 91/91 - 2
2-140990854-C-G c.13701G>C p.M4567I Missense 91/91 - 2
2-140990854-C-T c.13701G>A p.M4567I Missense 91/91 - 3
2-140990857-A-C c.13698T>G p.Y4566* Nonsense 91/91 - 1
2-140990857-A-T c.13698T>A p.Y4566* Nonsense 91/91 - 1
2-140990858-T-C c.13697A>G p.Y4566C Missense 91/91 - 1
2-140990860-T-A c.13695A>T p.L4565F Missense 91/91 - 2
2-140990860-T-C c.13695A>G p.L4565= Synonymous 91/91 - 2
2-140990862-A-G c.13693T>C p.L4565= Synonymous 91/91 - 1
2-140990867-G-T c.13688C>A p.A4563E Missense 91/91 - 1
2-140990868-C-T c.13687G>A p.A4563T Missense 91/91 - 1
2-140990871-A-C c.13684T>G p.Y4562D Missense 91/91 - 3
2-140990873-A-T c.13682T>A p.V4561E Missense 91/91 - 3
2-140990874-C-A c.13681G>T p.V4561L Missense 91/91 - 1
2-140990874-C-G c.13681G>C p.V4561L Missense 91/91 - 1
2-140990875-C-T c.13680G>A p.P4560= Synonymous 91/91 - 1
2-140990876-G-A c.13679C>T p.P4560L Missense 91/91 - 11
2-140990876-G-C c.13679C>G p.P4560R Missense 91/91 - 1
2-140990877-G-A c.13678C>T p.P4560S Missense 91/91 - 2
2-140990879-T-C c.13676A>G p.N4559S Missense 91/91 - 7
2-140990880-T-A c.13675A>T p.N4559Y Missense 91/91 - 1
2-140990882-G-A c.13673C>T p.S4558F Missense 91/91 - 2
2-140990884-G-A c.13671C>T p.Y4557= Synonymous 91/91 - 1
2-140990891-G-T c.13664C>A p.T4555K Missense 91/91 - 1
2-140990892-T-C c.13663A>G p.T4555A Missense 91/91 - 3
2-140990892-T-TATGGTATTTTTA c.13662_13663insTAAAAATACCAT p.P4554_T4555ins* Nonsense 91/91 - 1
2-140990893-T-A c.13662A>T p.P4554= Synonymous 91/91 - 4
2-140990893-T-C c.13662A>G p.P4554= Synonymous 91/91 - 3
2-140990893-T-G c.13662A>C p.P4554= Synonymous 91/91 - 3
2-140990917-T-C c.13660-22A>G - IntronicSNV - 90/90 1
2-140990917-T-G c.13660-22A>C - IntronicSNV - 90/90 1
2-140992063-G-C c.13659+292C>G - IntronicSNV - 90/90 1
2-140992337-C-A c.13659+18G>T - IntronicSNV - 90/90 7
2-140992337-C-T c.13659+18G>A - IntronicSNV - 90/90 6
2-140992340-A-T c.13659+15T>A - IntronicSNV - 90/90 1
2-140992347-T-C c.13659+8A>G - IntronicSNV - 90/90 3
2-140992353-AC-A c.13659+1del - IntronicDeletion 90/91 - 1
2-140992360-C-T c.13654G>A p.A4552T Missense 90/91 - 1
2-140992361-A-C c.13653T>G p.T4551= Synonymous 90/91 - 1
2-140992364-T-A c.13650A>T p.L4550= Synonymous 90/91 - 2
2-140992365-A-G c.13649T>C p.L4550P Missense 90/91 - 2
2-140992368-G-T c.13646C>A p.P4549Q Missense 90/91 - 2
2-140992371-C-T c.13643G>A p.G4548E Missense 90/91 - 4
2-140992373-T-A c.13641A>T p.K4547N Missense 90/91 - 1
2-140992373-T-G c.13641A>C p.K4547N Missense 90/91 - 1
2-140992383-G-A c.13631C>T p.S4544F Missense 90/91 - 2
2-140992383-G-T c.13631C>A p.S4544Y Missense 90/91 - 1
2-140992385-G-A c.13629C>T p.N4543= Synonymous 90/91 - 1
2-140992387-T-G c.13627A>C p.N4543H Missense 90/91 - 1
2-140992391-G-A c.13623C>T p.Y4541= Synonymous 90/91 - 1
2-140992393-A-G c.13621T>C p.Y4541H Missense 90/91 - 2
2-140992393-A-T c.13621T>A p.Y4541N Missense 90/91 - 1
2-140992394-G-C c.13620C>G p.I4540M Missense 90/91 - 2
2-140992396-T-C c.13618A>G p.I4540V Missense 90/91 - 6
2-140992397-G-A c.13617C>T p.P4539= Synonymous 90/91 - 3
2-140992397-G-T c.13617C>A p.P4539= Synonymous 90/91 - 1
2-140992398-G-T c.13616C>A p.P4539H Missense 90/91 - 2
2-140992399-G-C c.13615C>G p.P4539A Missense 90/91 - 3
2-140992400-C-A c.13614G>T p.P4538= Synonymous 90/91 - 1
2-140992400-C-G c.13614G>C p.P4538= Synonymous 90/91 - 1
2-140992400-C-T c.13614G>A p.P4538= Synonymous 90/91 - 4
2-140992401-G-A c.13613C>T p.P4538L Missense 90/91 - 2
2-140992401-G-C c.13613C>G p.P4538R Missense 90/91 - 1
2-140992403-C-A c.13611G>T p.A4537= Synonymous 90/91 - 2
2-140992403-C-G c.13611G>C p.A4537= Synonymous 90/91 - 4
2-140992403-C-T c.13611G>A p.A4537= Synonymous 90/91 - 3
2-140992404-G-A c.13610C>T p.A4537V Missense 90/91 - 7
2-140992404-G-T c.13610C>A p.A4537E Missense 90/91 - 2
2-140992408-T-C c.13606A>G p.T4536A Missense 90/91 - 1
2-140992411-G-T c.13603C>A p.H4535N Missense 90/91 - 3
2-140992412-TG-T c.13601del p.P4534Hfs*9 Frameshift 90/91 - 1
2-140992417-G-T c.13597C>A p.L4533I Missense 90/91 - 2
2-140992420-T-A c.13594A>T p.K4532* Nonsense 90/91 - 1
2-140992421-G-T c.13593C>A p.F4531L Missense 90/91 - 5
2-140992421-G-C c.13593C>G p.F4531L Missense 90/91 - 2
2-140992423-A-G c.13591T>C p.F4531L Missense 90/91 - 2
2-140992424-A-C c.13590T>G p.A4530= Synonymous 90/91 - 1
2-140992424-A-G c.13590T>C p.A4530= Synonymous 90/91 - 1
2-140992424-A-T c.13590T>A p.A4530= Synonymous 90/91 - 1
2-140992425-G-A c.13589C>T p.A4530V Missense 90/91 - 1
2-140992428-C-A c.13586G>T p.S4529I Missense 90/91 - 1
2-140992429-T-C c.13585A>G p.S4529G Missense 90/91 - 1
2-140992430-G-A c.13584C>T p.P4528= Synonymous 90/91 - 2
2-140992431-G-A c.13583C>T p.P4528L Missense 90/91 - 1
2-140992432-G-A c.13582C>T p.P4528S Missense 90/91 - 1
2-140992434-C-T c.13580G>A p.G4527E Missense 90/91 - 1
2-140992437-C-T c.13577G>A p.G4526E Missense 90/91 - 3
2-140992439-C-T c.13575G>A p.G4525= Synonymous 90/91 - 2
2-140992440-C-A c.13574G>T p.G4525V Missense 90/91 - 1
2-140992440-C-T c.13574G>A p.G4525E Missense 90/91 - 2
2-140992436-T-TC c.13577dup p.G4527Rfs*19 Frameshift 90/91 - 1
2-140992441-C-G c.13573G>C p.G4525R Missense 90/91 - 2
2-140992441-C-T c.13573G>A p.G4525R Missense 90/91 - 4
2-140992447-A-G c.13567T>C p.Y4523H Missense 90/91 - 1
2-140992448-C-A c.13566G>T p.R4522S Missense 90/91 - 1
2-140992448-C-G c.13566G>C p.R4522S Missense 90/91 - 1
2-140992447-AC-A c.13566del p.R4522Sfs*3 Frameshift 90/91 - 1
2-140992449-C-T c.13565G>A p.R4522K Missense 90/91 - 1
2-140992452-G-T c.13562C>A p.A4521D Missense 90/91 - 2
2-140995604-A-G c.13560+117T>C - IntronicSNV - 89/90 1
2-140995720-C-A c.13560+1G>T - IntronicSNV - 89/90 1
2-140995720-C-G c.13560+1G>C - IntronicSNV - 89/90 2
2-140995725-G-A c.13556C>T p.T4519I Missense 89/91 - 1
2-140995729-G-T c.13552C>A p.P4518T Missense 89/91 - 2
2-140995732-C-A c.13549G>T p.D4517Y Missense 89/91 - 1
2-140995732-C-G c.13549G>C p.D4517H Missense 89/91 - 1
2-140995735-T-C c.13546A>G p.I4516V Missense 89/91 - 1
2-140995736-C-T c.13545G>A p.M4515I Missense 89/91 - 5
2-140995737-A-C c.13544T>G p.M4515R Missense 89/91 - 2
2-140995743-C-A c.13538G>T p.G4513V Missense 89/91 - 2
2-140995744-C-A c.13537G>T p.G4513C Missense 89/91 - 2
2-140995744-C-T c.13537G>A p.G4513S Missense 89/91 - 3
2-140995746-G-A c.13535C>T p.P4512L Missense 89/91 - 1
2-140995750-C-A c.13531G>T p.D4511Y Missense 89/91 - 4
2-140995753-A-T c.13528T>A p.L4510I Missense 89/91 - 1
2-140995755-A-G c.13526T>C p.L4509P Missense 89/91 - 1
2-140995756-G-A c.13525C>T p.L4509F Missense 89/91 - 2
2-140995756-G-T c.13525C>A p.L4509I Missense 89/91 - 1
2-140995758-C-A c.13523G>T p.G4508V Missense 89/91 - 1
2-140995758-C-T c.13523G>A p.G4508D Missense 89/91 - 1
2-140995762-C-A c.13519G>T p.G4507* Nonsense 89/91 - 2
2-140995763-A-G c.13518T>C p.D4506= Synonymous 89/91 - 1
2-140995763-A-T c.13518T>A p.D4506E Missense 89/91 - 1
2-140995765-C-G c.13516G>C p.D4506H Missense 89/91 - 1
2-140995765-C-T c.13516G>A p.D4506N Missense 89/91 - 5
2-140995766-G-A c.13515C>T p.N4505= Synonymous 89/91 - 1
2-140995766-G-C c.13515C>G p.N4505K Missense 89/91 - 3
2-140995766-G-T c.13515C>A p.N4505K Missense 89/91 - 1
2-140995769-G-C c.13512C>G p.H4504Q Missense 89/91 - 1
2-140995769-G-T c.13512C>A p.H4504Q Missense 89/91 - 3
2-140995770-T-A c.13511A>T p.H4504L Missense 89/91 - 2
2-140995771-G-A c.13510C>T p.H4504Y Missense 89/91 - 2
2-140995771-G-T c.13510C>A p.H4504N Missense 89/91 - 4
2-140995771-TG-T c.13510del p.H4504Tfs*7 Frameshift 89/91 - 1
2-140995773-T-C c.13508A>G p.D4503G Missense 89/91 - 1
2-140995774-C-G c.13507G>C p.D4503H Missense 89/91 - 3
2-140995774-C-T c.13507G>A p.D4503N Missense 89/91 - 5
2-140995777-G-A c.13504C>T p.H4502Y Missense 89/91 - 2
2-140995780-C-A c.13501G>T p.D4501Y Missense 89/91 - 3
2-140995783-C-T c.13498G>A p.V4500I Missense 89/91 - 1
2-140995786-C-G c.13495G>C p.E4499Q Missense 89/91 - 3
2-140995786-C-T c.13495G>A p.E4499K Missense 89/91 - 3
2-140995790-C-A c.13491G>T p.M4497I Missense 89/91 - 1
2-140995790-C-T c.13491G>A p.M4497I Missense 89/91 - 1
2-140995791-A-G c.13490T>C p.M4497T Missense 89/91 - 2
2-140995792-T-A c.13489A>T p.M4497L Missense 89/91 - 1
2-140995792-T-G c.13489A>C p.M4497L Missense 89/91 - 1
2-140995798-A-T c.13483T>A p.Y4495N Missense 89/91 - 1
2-140995800-G-T c.13481C>A p.S4494Y Missense 89/91 - 4
2-140995801-A-T c.13480T>A p.S4494T Missense 89/91 - 1
2-140995803-G-A c.13478C>T p.P4493L Missense 89/91 - 3
2-140995803-G-T c.13478C>A p.P4493Q Missense 89/91 - 1
2-140995804-G-A c.13477C>T p.P4493S Missense 89/91 - 2
2-140995805-A-T c.13476T>A p.N4492K Missense 89/91 - 2
2-140995807-T-A c.13474A>T p.N4492Y Missense 89/91 - 1
2-140995809-C-A c.13472G>T p.G4491V Missense 89/91 - 8
2-140995809-C-G c.13472G>C p.G4491A Missense 89/91 - 1
2-140995810-C-T c.13471G>A p.G4491S Missense 89/91 - 1
2-140995817-T-C c.13464A>G p.V4488= Synonymous 89/91 - 2
2-140995818-A-G c.13463T>C p.V4488A Missense 89/91 - 1
2-140995819-C-T c.13462G>A p.V4488I Missense 89/91 - 1
2-140995822-T-G c.13459A>C p.N4487H Missense 89/91 - 1
2-140995824-A-T c.13457T>A p.I4486K Missense 89/91 - 1
2-140995827-C-A c.13454G>T p.G4485V Missense 89/91 - 2
2-140995827-C-T c.13454G>A p.G4485E Missense 89/91 - 2
2-140995828-C-G c.13453G>C p.G4485R Missense 89/91 - 1
2-140995828-C-T c.13453G>A p.G4485R Missense 89/91 - 2
2-140995829-T-A c.13452A>T p.G4484= Synonymous 89/91 - 1
2-140995829-T-C c.13452A>G p.G4484= Synonymous 89/91 - 1
2-140995829-T-G c.13452A>C p.G4484= Synonymous 89/91 - 1
2-140995831-C-A c.13450G>T p.G4484* Nonsense 89/91 - 1
2-140995831-C-G c.13450G>C p.G4484R Missense 89/91 - 2
2-140995831-C-T c.13450G>A p.G4484R Missense 89/91 - 7
2-140995833-T-C c.13448A>G p.N4483S Missense 89/91 - 3
2-140995834-T-A c.13447A>T p.N4483Y Missense 89/91 - 1
2-140995835-G-A c.13446C>T p.I4482= Synonymous 89/91 - 2
2-140995836-A-T c.13445T>A p.I4482N Missense 89/91 - 2
2-140995842-G-A c.13439C>T p.P4480L Missense 89/91 - 1
2-140995842-G-C c.13439C>G p.P4480R Missense 89/91 - 2
2-140995842-G-T c.13439C>A p.P4480H Missense 89/91 - 2
2-140995843-G-A c.13438C>T p.P4480S Missense 89/91 - 7
2-140995846-G-A c.13435C>T p.Q4479* Nonsense 89/91 - 1
2-140995846-G-T c.13435C>A p.Q4479K Missense 89/91 - 3
2-140995848-C-A c.13433G>T p.R4478I Missense 89/91 - 3
2-140995853-A-G c.13428T>C p.I4476= Synonymous 89/91 - 1
2-140995853-A-T c.13428T>A p.I4476= Synonymous 89/91 - 1
2-140995856-T-G c.13425A>C p.T4475= Synonymous 89/91 - 1
2-140995863-G-T c.13418C>A p.T4473K Missense 89/91 - 1
2-140995864-T-C c.13417A>G p.T4473A Missense 89/91 - 2
2-140995865-C-A c.13416G>T p.R4472S Missense 89/91 - 1
2-140995926-G-A c.13416-61C>T - IntronicSNV - 88/90 1
2-140996980-C-T c.13415+31G>A - IntronicSNV - 88/90 1
2-140997006-C-T c.13415+5G>A - IntronicSNV - 88/90 1
2-140997013-T-C c.13413A>G p.R4471= Synonymous 88/91 - 1
2-140997015-T-G c.13411A>C p.R4471= Synonymous 88/91 - 1
2-140997014-C-A c.13412G>T p.R4471I Missense 88/91 - 2
2-140997017-T-G c.13409A>C p.K4470T Missense 88/91 - 1
2-140997014-CT-C c.13411del p.R4471Efs*16 Frameshift 88/91 - 1
2-140997019-T-C c.13407A>G p.R4469= Synonymous 88/91 - 1
2-140997021-T-G c.13405A>C p.R4469= Synonymous 88/91 - 1
2-140997021-T-A c.13405A>T p.R4469* Nonsense 88/91 - 1
2-140997023-T-G c.13403A>C p.K4468T Missense 88/91 - 1
2-140997030-G-A c.13396C>T p.L4466F Missense 88/91 - 1
2-140997030-G-T c.13396C>A p.L4466I Missense 88/91 - 4
2-140997032-A-T c.13394T>A p.V4465E Missense 88/91 - 1
2-140997033-C-A c.13393G>T p.V4465L Missense 88/91 - 1
2-140997039-C-A c.13387G>T p.G4463C Missense 88/91 - 1
2-140997041-A-G c.13385T>C p.I4462T Missense 88/91 - 1
2-140997044-A-T c.13382T>A p.V4461E Missense 88/91 - 1
2-140997045-C-A c.13381G>T p.V4461L Missense 88/91 - 1
2-140997045-C-G c.13381G>C p.V4461L Missense 88/91 - 2
2-140997046-T-A c.13380A>T p.L4460F Missense 88/91 - 2
2-140997046-T-C c.13380A>G p.L4460= Synonymous 88/91 - 1
2-140997048-A-G c.13378T>C p.L4460= Synonymous 88/91 - 2
2-140997049-G-A c.13377C>T p.T4459= Synonymous 88/91 - 1
2-140997049-G-C c.13377C>G p.T4459= Synonymous 88/91 - 1
2-140997049-G-T c.13377C>A p.T4459= Synonymous 88/91 - 1
2-140997050-G-T c.13376C>A p.T4459N Missense 88/91 - 3
2-140997052-GG-CA c.13373_13374delinsTG p.T4458M Missense 88/91 - 1
2-140997052-GG-CT c.13373_13374delinsAG p.T4458K Missense 88/91 - 1
2-140997054-T-A c.13372A>T p.T4458S Missense 88/91 - 1
2-140997058-C-A c.13368G>T p.L4456F Missense 88/91 - 3
2-140997058-C-G c.13368G>C p.L4456F Missense 88/91 - 2
2-140997058-C-T c.13368G>A p.L4456= Synonymous 88/91 - 1
2-140997059-A-G c.13367T>C p.L4456S Missense 88/91 - 1
2-140997062-AG-A c.13364del p.T4455Ifs*2 Frameshift 88/91 - 1
2-140997062-G-A c.13364C>T p.T4455I Missense 88/91 - 1
2-140997063-T-A c.13363A>T p.T4455S Missense 88/91 - 2
2-140997063-T-C c.13363A>G p.T4455A Missense 88/91 - 1
2-140997070-G-A c.13356C>T p.L4452= Synonymous 88/91 - 1
2-140997070-G-C c.13356C>G p.L4452= Synonymous 88/91 - 1
2-140997070-G-T c.13356C>A p.L4452= Synonymous 88/91 - 1
2-140997072-G-A c.13354C>T p.L4452F Missense 88/91 - 2
2-140997073-G-A c.13353C>T p.V4451= Synonymous 88/91 - 1
2-140997073-G-C c.13353C>G p.V4451= Synonymous 88/91 - 1
2-140997073-G-T c.13353C>A p.V4451= Synonymous 88/91 - 1
2-140997075-C-G c.13351G>C p.V4451L Missense 88/91 - 3
2-140997075-C-T c.13351G>A p.V4451I Missense 88/91 - 1
2-140997076-G-A c.13350C>T p.L4450= Synonymous 88/91 - 4
2-140997076-G-T c.13350C>A p.L4450= Synonymous 88/91 - 3
2-140997080-G-A c.13346C>T p.P4449L Missense 88/91 - 1
2-140997080-G-C c.13346C>G p.P4449R Missense 88/91 - 1
2-140997080-G-T c.13346C>A p.P4449H Missense 88/91 - 1
2-140997082-C-T c.13344G>A p.V4448= Synonymous 88/91 - 1
2-140997086-A-G c.13340T>C p.I4447T Missense 88/91 - 1
2-140997087-T-C c.13339A>G p.I4447V Missense 88/91 - 1
2-140997090-T-C c.13336A>G p.I4446V Missense 88/91 - 4
2-140997092-G-A c.13334C>T p.A4445V Missense 88/91 - 1
2-140997092-GC-CA c.13333_13334delinsTG p.A4445C Missense 88/91 - 1
2-140997093-C-T c.13333G>A p.A4445T Missense 88/91 - 1
2-140997093-C-CA c.13332dup p.A4445Cfs*24 Frameshift 88/91 - 2
2-140997097-G-A c.13329C>T p.S4443= Synonymous 88/91 - 1
2-140997097-G-T c.13329C>A p.S4443R Missense 88/91 - 1
2-140997098-C-A c.13328G>T p.S4443I Missense 88/91 - 1
2-140997100-T-G c.13326A>C p.R4442S Missense 88/91 - 1
2-140997101-C-A c.13325G>T p.R4442I Missense 88/91 - 1
2-140997101-C-T c.13325G>A p.R4442K Missense 88/91 - 2
2-140997197-T-G c.13325-96A>C - IntronicSNV - 87/90 2
2-141003468-C-G c.13324+1187G>C - IntronicSNV - 87/90 1
2-141004513-C-T c.13324+142G>A - IntronicSNV - 87/90 2
2-141004529-A-G c.13324+126T>C - IntronicSNV - 87/90 2
2-141004655-T-G c.13324A>C p.R4442= Synonymous 87/91 - 2
2-141004656-T-A c.13323A>T p.T4441= Synonymous 87/91 - 1
2-141004656-T-C c.13323A>G p.T4441= Synonymous 87/91 - 2
2-141004656-T-G c.13323A>C p.T4441= Synonymous 87/91 - 1
2-141004657-G-T c.13322C>A p.T4441K Missense 87/91 - 1
2-141004658-T-A c.13321A>T p.T4441S Missense 87/91 - 2
2-141004662-G-A c.13317C>T p.I4439= Synonymous 87/91 - 1
2-141004662-G-T c.13317C>A p.I4439= Synonymous 87/91 - 1
2-141004663-A-C c.13316T>G p.I4439S Missense 87/91 - 1
2-141004665-A-T c.13314T>A p.H4438Q Missense 87/91 - 1
2-141004666-T-C c.13313A>G p.H4438R Missense 87/91 - 4
2-141004668-A-C c.13311T>G p.D4437E Missense 87/91 - 2
2-141004668-A-T c.13311T>A p.D4437E Missense 87/91 - 3
2-141004670-C-T c.13309G>A p.D4437N Missense 87/91 - 4
2-141004671-A-G c.13308T>C p.S4436= Synonymous 87/91 - 1
2-141004673-A-C c.13306T>G p.S4436A Missense 87/91 - 1
2-141004675-T-C c.13304A>G p.K4435R Missense 87/91 - 5
2-141004675-T-G c.13304A>C p.K4435T Missense 87/91 - 5
2-141004677-G-C c.13302C>G p.S4434R Missense 87/91 - 2
2-141004677-G-T c.13302C>A p.S4434R Missense 87/91 - 2
2-141004679-T-G c.13300A>C p.S4434R Missense 87/91 - 2
2-141004680-G-A c.13299C>T p.S4433= Synonymous 87/91 - 1
2-141004681-C-G c.13298G>C p.S4433T Missense 87/91 - 2
2-141004683-C-A c.13296G>T p.K4432N Missense 87/91 - 1
2-141004684-T-C c.13295A>G p.K4432R Missense 87/91 - 3
2-141004687-G-A c.13292C>T p.P4431L Missense 87/91 - 1
2-141004687-G-T c.13292C>A p.P4431Q Missense 87/91 - 5
2-141004688-G-A c.13291C>T p.P4431S Missense 87/91 - 5
2-141004688-G-T c.13291C>A p.P4431T Missense 87/91 - 1
2-141004690-G-A c.13289C>T p.A4430V Missense 87/91 - 1
2-141004690-G-T c.13289C>A p.A4430D Missense 87/91 - 1
2-141004691-C-T c.13288G>A p.A4430T Missense 87/91 - 1
2-141004693-G-T c.13286C>A p.P4429Q Missense 87/91 - 1
2-141004694-G-A c.13285C>T p.P4429S Missense 87/91 - 2
2-141004694-G-T c.13285C>A p.P4429T Missense 87/91 - 3
2-141004696-C-A c.13283G>T p.R4428M Missense 87/91 - 2
2-141004696-C-T c.13283G>A p.R4428K Missense 87/91 - 2
2-141004697-T-A c.13282A>T p.R4428W Missense 87/91 - 1
2-141004700-C-T c.13279G>A p.E4427K Missense 87/91 - 8
2-141004702-C-A c.13277G>T p.C4426F Missense 87/91 - 1
2-141004703-A-G c.13276T>C p.C4426R Missense 87/91 - 1
2-141004704-C-A c.13275G>T p.Q4425H Missense 87/91 - 2
2-141004704-C-G c.13275G>C p.Q4425H Missense 87/91 - 1
2-141004706-G-A c.13273C>T p.Q4425* Nonsense 87/91 - 1
2-141004708-G-C c.13271C>G p.T4424R Missense 87/91 - 1
2-141004710-G-A c.13269C>T p.G4423= Synonymous 87/91 - 2
2-141004710-G-C c.13269C>G p.G4423= Synonymous 87/91 - 1
2-141004710-G-T c.13269C>A p.G4423= Synonymous 87/91 - 1
2-141004711-C-A c.13268G>T p.G4423V Missense 87/91 - 1
2-141004711-C-T c.13268G>A p.G4423D Missense 87/91 - 2
2-141004712-C-A c.13267G>T p.G4423C Missense 87/91 - 2
2-141004715-AC-A c.13263del p.W4421Cfs*34 Frameshift 87/91 - 1
2-141004717-C-A c.13262G>T p.W4421L Missense 87/91 - 4
2-141004719-G-A c.13260C>T p.N4420= Synonymous 87/91 - 1
2-141004720-T-C c.13259A>G p.N4420S Missense 87/91 - 1
2-141004723-G-A c.13256C>T p.T4419I Missense 87/91 - 2
2-141004726-G-C c.13253C>G p.S4418C Missense 87/91 - 2
2-141004727-A-G c.13252T>C p.S4418P Missense 87/91 - 1
2-141004728-G-A c.13251C>T p.C4417= Synonymous 87/91 - 4
2-141004728-G-T c.13251C>A p.C4417* Nonsense 87/91 - 1
2-141004729-CA-GT c.13249_13250delinsAC p.C4417T Missense 87/91 - 1
2-141004729-C-T c.13250G>A p.C4417Y Missense 87/91 - 1
2-141013919-C-T c.13248-9188G>A - IntronicSNV - 86/90 1
2-141017389-T-G c.13247+10422A>C - IntronicSNV - 86/90 1
2-141017893-T-C c.13247+9918A>G - IntronicSNV - 86/90 1
2-141019673-A-T c.13247+8138T>A - IntronicSNV - 86/90 1
2-141020197-G-A c.13247+7614C>T - IntronicSNV - 86/90 1
2-141023643-T-C c.13247+4168A>G - IntronicSNV - 86/90 1
2-141023707-GT-G c.13247+4103del - IntronicDeletion - 86/90 1
2-141025436-G-GT c.13247+2374dup - IntronicInsertion - 86/90 1
2-141026436-T-C c.13247+1375A>G - IntronicSNV - 86/90 1
2-141026986-G-A c.13247+825C>T - IntronicSNV - 86/90 2
2-141026986-G-T c.13247+825C>A - IntronicSNV - 86/90 1
2-141027098-T-C c.13247+713A>G - IntronicSNV - 86/90 2
2-141027159-T-C c.13247+652A>G - IntronicSNV - 86/90 1
2-141027787-C-T c.13247+24G>A - IntronicSNV - 86/90 1
2-141027804-TACTC-T c.13247+3_13247+6del - IntronicDeletion - 86/90 1
2-141027809-A-G c.13247+2T>C - IntronicSNV - 86/90 1
2-141027810-C-A c.13247+1G>T - IntronicSNV - 86/90 2
2-141027811-A-G c.13247T>C p.L4416P Missense 86/91 - 1
2-141027812-G-A c.13246C>T p.L4416= Synonymous 86/91 - 1
2-141027812-G-C c.13246C>G p.L4416V Missense 86/91 - 1
2-141027813-A-T c.13245T>A p.C4415* Nonsense 86/91 - 1
2-141027815-A-T c.13243T>A p.C4415S Missense 86/91 - 2
2-141027817-A-G c.13241T>C p.V4414A Missense 86/91 - 1
2-141027818-C-A c.13240G>T p.V4414L Missense 86/91 - 2
2-141027818-C-G c.13240G>C p.V4414L Missense 86/91 - 1
2-141027821-G-T c.13237C>A p.P4413T Missense 86/91 - 1
2-141027823-A-G c.13235T>C p.V4412A Missense 86/91 - 2
2-141027823-A-T c.13235T>A p.V4412E Missense 86/91 - 1
2-141027824-C-A c.13234G>T p.V4412L Missense 86/91 - 2
2-141027824-C-T c.13234G>A p.V4412I Missense 86/91 - 2
2-141027825-A-C c.13233T>G p.N4411K Missense 86/91 - 1
2-141027825-A-T c.13233T>A p.N4411K Missense 86/91 - 3
2-141027826-T-C c.13232A>G p.N4411S Missense 86/91 - 2
2-141027829-G-T c.13229C>A p.T4410K Missense 86/91 - 1
2-141027830-T-C c.13228A>G p.T4410A Missense 86/91 - 4
2-141027831-C-A c.13227G>T p.E4409D Missense 86/91 - 1
2-141027833-C-CA c.13224_13225insT p.E4409* Nonsense 86/91 - 1
2-141027833-C-G c.13225G>C p.E4409Q Missense 86/91 - 1
2-141027833-TC-T c.13225del p.E4409Rfs*46 Frameshift 86/91 - 1
2-141027834-G-A c.13224C>T p.P4408= Synonymous 86/91 - 3
2-141027836-G-C c.13222C>G p.P4408A Missense 86/91 - 4
2-141027836-G-T c.13222C>A p.P4408T Missense 86/91 - 3
2-141027833-C-CG c.13224dup p.E4409Rfs*19 Frameshift 86/91 - 1
2-141027837-G-T c.13221C>A p.D4407E Missense 86/91 - 2
2-141027838-T-C c.13220A>G p.D4407G Missense 86/91 - 1
2-141027838-T-G c.13220A>C p.D4407A Missense 86/91 - 1
2-141027839-C-A c.13219G>T p.D4407Y Missense 86/91 - 1
2-141027839-C-G c.13219G>C p.D4407H Missense 86/91 - 2
2-141027839-C-T c.13219G>A p.D4407N Missense 86/91 - 3
2-141027843-C-A c.13215G>T p.Q4405H Missense 86/91 - 1
2-141027843-C-G c.13215G>C p.Q4405H Missense 86/91 - 1
2-141027843-C-T c.13215G>A p.Q4405= Synonymous 86/91 - 1
2-141027843-GCT-G c.13214_13215del p.Q4405Pfs*22 Frameshift 86/91 - 1
2-141027845-G-A c.13213C>T p.Q4405* Nonsense 86/91 - 1
2-141027846-G-A c.13212C>T p.C4404= Synonymous 86/91 - 1
2-141027847-C-G c.13211G>C p.C4404S Missense 86/91 - 2
2-141027847-C-T c.13211G>A p.C4404Y Missense 86/91 - 1
2-141027848-A-T c.13210T>A p.C4404S Missense 86/91 - 1
2-141027850-G-A c.13208C>T p.T4403I Missense 86/91 - 1
2-141027851-T-C c.13207A>G p.T4403A Missense 86/91 - 1
2-141027854-C-A c.13204G>T p.G4402C Missense 86/91 - 5
2-141027856-C-G c.13202G>C p.G4401A Missense 86/91 - 1
2-141027856-C-T c.13202G>A p.G4401D Missense 86/91 - 1
2-141027857-C-T c.13201G>A p.G4401S Missense 86/91 - 5
2-141027861-G-T c.13197C>A p.Y4399* Nonsense 86/91 - 2
2-141027862-T-A c.13196A>T p.Y4399F Missense 86/91 - 2
2-141027862-T-C c.13196A>G p.Y4399C Missense 86/91 - 5
2-141027865-C-T c.13193G>A p.C4398Y Missense 86/91 - 1
2-141027865-C-G c.13193G>C p.C4398S Missense 86/91 - 1
2-141027866-A-G c.13192T>C p.C4398R Missense 86/91 - 1
2-141027866-A-T c.13192T>A p.C4398S Missense 86/91 - 1
2-141027867-G-A c.13191C>T p.Y4397= Synonymous 86/91 - 1
2-141027867-G-C c.13191C>G p.Y4397* Nonsense 86/91 - 1
2-141027867-G-T c.13191C>A p.Y4397* Nonsense 86/91 - 2
2-141027872-C-A c.13186G>T p.G4396C Missense 86/91 - 3
2-141027872-CA-AT c.13185_13186delinsAT p.D4395_G4396delinsEC MultiAAMissense 86/91 - 1
2-141027873-A-C c.13185T>G p.D4395E Missense 86/91 - 1
2-141027873-A-T c.13185T>A p.D4395E Missense 86/91 - 2
2-141027874-T-C c.13184A>G p.D4395G Missense 86/91 - 1
2-141027875-C-A c.13183G>T p.D4395Y Missense 86/91 - 5
2-141027877-C-A c.13181G>T p.C4394F Missense 86/91 - 1
2-141027881-A-C c.13177T>G p.L4393V Missense 86/91 - 1
2-141027886-C-G c.13172G>C p.C4391S Missense 86/91 - 5
2-141027887-A-T c.13171T>A p.C4391S Missense 86/91 - 3
2-141027888-G-C c.13170C>G p.S4390R Missense 86/91 - 2
2-141027888-G-T c.13170C>A p.S4390R Missense 86/91 - 1
2-141027890-T-A c.13168A>T p.S4390C Missense 86/91 - 3
2-141027890-T-C c.13168A>G p.S4390G Missense 86/91 - 1
2-141027892-G-A c.13166C>T p.S4389F Missense 86/91 - 2
2-141027892-G-C c.13166C>G p.S4389C Missense 86/91 - 2
2-141027893-A-C c.13165T>G p.S4389A Missense 86/91 - 1
2-141027894-G-A c.13164C>T p.A4388= Synonymous 86/91 - 1
2-141027894-G-C c.13164C>G p.A4388= Synonymous 86/91 - 1
2-141027894-G-T c.13164C>A p.A4388= Synonymous 86/91 - 1
2-141027900-C-A c.13158G>T p.K4386N Missense 86/91 - 3
2-141027900-C-G c.13158G>C p.K4386N Missense 86/91 - 1
2-141027900-C-T c.13158G>A p.K4386= Synonymous 86/91 - 2
2-141027901-T-G c.13157A>C p.K4386T Missense 86/91 - 3
2-141027904-C-T c.13154G>A p.G4385E Missense 86/91 - 2
2-141027905-C-A c.13153G>T p.G4385* Nonsense 86/91 - 1
2-141027908-T-G c.13150A>C p.N4384H Missense 86/91 - 1
2-141027911-T-C c.13147A>G p.T4383A Missense 86/91 - 2
2-141027914-A-G c.13144T>C p.C4382R Missense 86/91 - 1
2-141027915-G-C c.13143C>G p.N4381K Missense 86/91 - 2
2-141027915-G-T c.13143C>A p.N4381K Missense 86/91 - 2
2-141027926-A-G c.13143-11T>C - IntronicSNV - 85/90 7
2-141027976-C-A c.13143-61G>T - IntronicSNV - 85/90 1
2-141028164-C-T c.13143-249G>A - IntronicSNV - 85/90 1
2-141029548-A-C c.13143-1633T>G - IntronicSNV - 85/90 1
2-141029548-A-G c.13143-1633T>C - IntronicSNV - 85/90 1
2-141030310-C-G c.13142+1683G>C - IntronicSNV - 85/90 1
2-141031409-T-C c.13142+584A>G - IntronicSNV - 85/90 1
2-141031989-T-G c.13142+4A>C - IntronicSNV - 85/90 1
2-141031993-T-C c.13142A>G p.N4381S Missense 85/91 - 1
2-141031994-T-A c.13141A>T p.N4381Y Missense 85/91 - 1
2-141031994-T-C c.13141A>G p.N4381D Missense 85/91 - 4
2-141031994-T-G c.13141A>C p.N4381H Missense 85/91 - 1
2-141031996-C-T c.13139G>A p.C4380Y Missense 85/91 - 2
2-141031998-A-T c.13137T>A p.F4379L Missense 85/91 - 3
2-141031998-A-C c.13137T>G p.F4379L Missense 85/91 - 4
2-141032000-A-G c.13135T>C p.F4379L Missense 85/91 - 3
2-141032000-A-T c.13135T>A p.F4379I Missense 85/91 - 2
2-141032003-T-C c.13132A>G p.I4378V Missense 85/91 - 1
2-141032006-C-A c.13129G>T p.D4377Y Missense 85/91 - 9
2-141032006-C-T c.13129G>A p.D4377N Missense 85/91 - 5
2-141032009-C-A c.13126G>T p.E4376* Nonsense 85/91 - 1
2-141032009-C-T c.13126G>A p.E4376K Missense 85/91 - 2
2-141032010-A-C c.13125T>G p.S4375R Missense 85/91 - 2
2-141032010-A-T c.13125T>A p.S4375R Missense 85/91 - 2
2-141032010-CACT-C c.13123_13125del p.S4375del InFrameDeletion 85/91 - 1
2-141032012-T-G c.13123A>C p.S4375R Missense 85/91 - 2
2-141032011-C-T c.13124G>A p.S4375N Missense 85/91 - 4
2-141032012-T-C c.13123A>G p.S4375G Missense 85/91 - 1
2-141032014-T-A c.13121A>T p.D4374V Missense 85/91 - 1
2-141032015-C-T c.13120G>A p.D4374N Missense 85/91 - 1
2-141032015-CT-C c.13119del p.D4374Tfs*81 Frameshift 85/91 - 1
2-141032018-T-G c.13117A>C p.K4373Q Missense 85/91 - 1
2-141032019-A-G c.13116T>C p.N4372= Synonymous 85/91 - 1
2-141032021-T-A c.13114A>T p.N4372Y Missense 85/91 - 12
2-141032021-T-G c.13114A>C p.N4372H Missense 85/91 - 2
2-141032027-T-C c.13108A>G p.I4370V Missense 85/91 - 1
2-141032029-C-A c.13106G>T p.C4369F Missense 85/91 - 3
2-141032029-C-T c.13106G>A p.C4369Y Missense 85/91 - 1
2-141032030-A-G c.13105T>C p.C4369R Missense 85/91 - 1
2-141032031-G-C c.13104C>G p.H4368Q Missense 85/91 - 1
2-141032031-G-T c.13104C>A p.H4368Q Missense 85/91 - 2
2-141032032-T-TC c.13102_13103insG p.H4368Rfs*6 Frameshift 85/91 - 1
2-141032033-TG-T c.13102del p.H4368Tfs*4 Frameshift 85/91 - 3
2-141032036-C-A c.13099G>T p.G4367W Missense 85/91 - 3
2-141032036-C-G c.13099G>C p.G4367R Missense 85/91 - 2
2-141032036-C-T c.13099G>A p.G4367R Missense 85/91 - 5
2-141032038-C-A c.13097G>T p.G4366V Missense 85/91 - 1
2-141032038-C-G c.13097G>C p.G4366A Missense 85/91 - 1
2-141032033-GC-G c.13101del p.H4368Tfs*4 Frameshift 85/91 - 1
2-141032033-G-GC c.13101dup p.H4368Afs*6 Frameshift 85/91 - 2
2-141032039-C-A c.13096G>T p.G4366W Missense 85/91 - 1
2-141032039-C-T c.13096G>A p.G4366R Missense 85/91 - 5
2-141032040-A-C c.13095T>G p.H4365Q Missense 85/91 - 1
2-141032040-A-T c.13095T>A p.H4365Q Missense 85/91 - 1
2-141032044-C-T c.13091G>A p.C4364Y Missense 85/91 - 3
2-141032047-C-A c.13088G>T p.R4363M Missense 85/91 - 1
2-141032053-C-A c.13082G>T p.C4361F Missense 85/91 - 1
2-141032054-A-T c.13081T>A p.C4361S Missense 85/91 - 1
2-141032055-C-A c.13080G>T p.K4360N Missense 85/91 - 1
2-141032055-C-G c.13080G>C p.K4360N Missense 85/91 - 1
2-141032055-C-T c.13080G>A p.K4360= Synonymous 85/91 - 1
2-141032060-C-G c.13075G>C p.D4359H Missense 85/91 - 3
2-141032062-A-C c.13073T>G p.V4358G Missense 85/91 - 5
2-141032070-T-A c.13065A>T p.K4355N Missense 85/91 - 1
2-141032070-T-G c.13065A>C p.K4355N Missense 85/91 - 1
2-141032071-T-G c.13064A>C p.K4355T Missense 85/91 - 1
2-141032072-T-A c.13063A>T p.K4355* Nonsense 85/91 - 2
2-141032075-G-A c.13060C>T p.P4354S Missense 85/91 - 1
2-141032075-G-T c.13060C>A p.P4354T Missense 85/91 - 1
2-141032077-C-A c.13058G>T p.G4353V Missense 85/91 - 8
2-141032077-C-T c.13058G>A p.G4353E Missense 85/91 - 1
2-141032078-C-A c.13057G>T p.G4353* Nonsense 85/91 - 1
2-141032078-C-G c.13057G>C p.G4353R Missense 85/91 - 1
2-141032078-C-T c.13057G>A p.G4353R Missense 85/91 - 4
2-141032079-T-A c.13056A>T p.E4352D Missense 85/91 - 5
2-141032079-T-G c.13056A>C p.E4352D Missense 85/91 - 3
2-141032081-C-A c.13054G>T p.E4352* Nonsense 85/91 - 1
2-141032082-A-G c.13053T>C p.Y4351= Synonymous 85/91 - 2
2-141032085-GC-TT c.13049_13050delinsAA p.R4350Q Missense 85/91 - 1
2-141032086-C-A c.13049G>T p.R4350L Missense 85/91 - 10
2-141032086-C-G c.13049G>C p.R4350P Missense 85/91 - 1
2-141032086-C-T c.13049G>A p.R4350H Missense 85/91 - 2
2-141032087-G-A c.13048C>T p.R4350C Missense 85/91 - 7
2-141032087-G-C c.13048C>G p.R4350G Missense 85/91 - 4
2-141032087-G-T c.13048C>A p.R4350S Missense 85/91 - 1
2-141032088-C-A c.13047G>T p.T4349= Synonymous 85/91 - 3
2-141032088-C-G c.13047G>C p.T4349= Synonymous 85/91 - 3
2-141032088-C-T c.13047G>A p.T4349= Synonymous 85/91 - 21
2-141032089-G-A c.13046C>T p.T4349M Missense 85/91 - 4
2-141032089-G-T c.13046C>A p.T4349K Missense 85/91 - 3
2-141032092-G-C c.13043C>G p.P4348R Missense 85/91 - 1
2-141032093-G-C c.13042C>G p.P4348A Missense 85/91 - 2
2-141032097-G-A c.13038C>T p.V4346= Synonymous 85/91 - 1
2-141032097-G-C c.13038C>G p.V4346= Synonymous 85/91 - 1
2-141032097-G-T c.13038C>A p.V4346= Synonymous 85/91 - 1
2-141032099-C-A c.13036G>T p.V4346F Missense 85/91 - 1
2-141032103-T-C c.13032A>G p.E4344= Synonymous 85/91 - 1
2-141032105-C-G c.13030G>C p.E4344Q Missense 85/91 - 1
2-141032105-C-T c.13030G>A p.E4344K Missense 85/91 - 1
2-141032106-A-C c.13029T>G p.V4343= Synonymous 85/91 - 1
2-141032106-A-G c.13029T>C p.V4343= Synonymous 85/91 - 1
2-141032106-A-T c.13029T>A p.V4343= Synonymous 85/91 - 1
2-141032108-C-A c.13027G>T p.V4343F Missense 85/91 - 2
2-141032110-C-T c.13025G>A p.S4342N Missense 85/91 - 7
2-141032111-T-A c.13024A>T p.S4342C Missense 85/91 - 1
2-141032111-T-C c.13024A>G p.S4342G Missense 85/91 - 1
2-141032113-C-G c.13022G>C p.G4341A Missense 85/91 - 1
2-141032113-C-T c.13022G>A p.G4341E Missense 85/91 - 1
2-141032116-T-A c.13019A>T p.D4340V Missense 85/91 - 1
2-141032117-C-T c.13018G>A p.D4340N Missense 85/91 - 5
2-141032118-A-T c.13017T>A p.D4339E Missense 85/91 - 2
2-141032120-C-A c.13015G>T p.D4339Y Missense 85/91 - 4
2-141032120-C-G c.13015G>C p.D4339H Missense 85/91 - 2
2-141032120-C-T c.13015G>A p.D4339N Missense 85/91 - 1
2-141032121-C-G c.13014G>C p.G4338= Synonymous 85/91 - 1
2-141032122-C-T c.13013G>A p.G4338E Missense 85/91 - 2
2-141032123-C-A c.13012G>T p.G4338W Missense 85/91 - 1
2-141032123-C-T c.13012G>A p.G4338R Missense 85/91 - 2
2-141032124-A-G c.13011T>C p.I4337= Synonymous 85/91 - 1
2-141032125-A-T c.13010T>A p.I4337N Missense 85/91 - 1
2-141032126-T-A c.13009A>T p.I4337F Missense 85/91 - 1
2-141032126-T-TG c.13008dup p.I4337Hfs*4 Frameshift 85/91 - 1
2-141032129-T-C c.13006A>G p.T4336A Missense 85/91 - 3
2-141032131-C-T c.13004G>A p.C4335Y Missense 85/91 - 1
2-141032132-CAT-C c.13002_13003del p.C4335Yfs*5 Frameshift 85/91 - 1
2-141032134-G-A c.13001C>T p.S4334L Missense 85/91 - 7
2-141032138-C-A c.12997G>T p.E4333* Nonsense 85/91 - 2
2-141032140-G-A c.12995C>T p.S4332F Missense 85/91 - 1
2-141032142-A-G c.12993T>C p.N4331= Synonymous 85/91 - 1
2-141032145-C-T c.12990G>A p.V4330= Synonymous 85/91 - 4
2-141032147-C-A c.12988G>T p.V4330L Missense 85/91 - 1
2-141032147-C-G c.12988G>C p.V4330L Missense 85/91 - 1
2-141032148-A-G c.12987T>C p.C4329= Synonymous 85/91 - 4
2-141032151-A-G c.12984T>C p.Y4328= Synonymous 85/91 - 2
2-141032155-T-A c.12980A>T p.H4327L Missense 85/91 - 1
2-141032159-G-A c.12976C>T p.H4326Y Missense 85/91 - 2
2-141032161-C-T c.12974G>A p.C4325Y Missense 85/91 - 2
2-141032164-A-G c.12971T>C p.V4324A Missense 85/91 - 1
2-141032164-A-T c.12971T>A p.V4324E Missense 85/91 - 1
2-141032165-C-A c.12970G>T p.V4324L Missense 85/91 - 7
2-141032165-C-G c.12970G>C p.V4324L Missense 85/91 - 4
2-141032165-C-T c.12970G>A p.V4324M Missense 85/91 - 4
2-141032166-G-A c.12969C>T p.Y4323= Synonymous 85/91 - 1
2-141032166-G-T c.12969C>A p.Y4323* Nonsense 85/91 - 2
2-141032167-T-C c.12968A>G p.Y4323C Missense 85/91 - 2
2-141032476-G-A c.12968-309C>T - IntronicSNV - 84/90 1
2-141042473-A-ATACC c.12968-10310_12968-10307dup - IntronicInsertion - 84/90 1
2-141043369-C-T c.12968-11202G>A - IntronicSNV - 84/90 1
2-141044502-CT-C c.12967+10874del - IntronicDeletion - 84/90 1
2-141046299-G-GT c.12967+9077dup - IntronicInsertion - 84/90 1
2-141047226-T-G c.12967+8151A>C - IntronicSNV - 84/90 1
2-141048454-C-T c.12967+6923G>A - IntronicSNV - 84/90 1
2-141050455-T-C c.12967+4922A>G - IntronicSNV - 84/90 1
2-141051514-C-T c.12967+3863G>A - IntronicSNV - 84/90 1
2-141052425-G-A c.12967+2952C>T - IntronicSNV - 84/90 1
2-141052887-C-A c.12967+2490G>T - IntronicSNV - 84/90 1
2-141052887-C-G c.12967+2490G>C - IntronicSNV - 84/90 1
2-141053085-G-C c.12967+2292C>G - IntronicSNV - 84/90 1
2-141055080-T-G c.12967+297A>C - IntronicSNV - 84/90 1
2-141055374-T-C c.12967+3A>G - IntronicSNV - 84/90 1
2-141055377-A-C c.12967T>G p.Y4323D Missense 84/91 - 1
2-141055378-G-C c.12966C>G p.Y4322* Nonsense 84/91 - 1
2-141055378-G-T c.12966C>A p.Y4322* Nonsense 84/91 - 1
2-141055381-C-G c.12963G>C p.Q4321H Missense 84/91 - 1
2-141055381-C-T c.12963G>A p.Q4321= Synonymous 84/91 - 3
2-141055383-G-A c.12961C>T p.Q4321* Nonsense 84/91 - 1
2-141055383-G-C c.12961C>G p.Q4321E Missense 84/91 - 1
2-141055383-G-T c.12961C>A p.Q4321K Missense 84/91 - 1
2-141055385-C-T c.12959G>A p.C4320Y Missense 84/91 - 1
2-141055387-T-C c.12957A>G p.R4319= Synonymous 84/91 - 1
2-141055388-C-A c.12956G>T p.R4319I Missense 84/91 - 2
2-141055388-C-T c.12956G>A p.R4319K Missense 84/91 - 3
2-141055389-T-G c.12955A>C p.R4319= Synonymous 84/91 - 1
2-141055390-G-C c.12954C>G p.D4318E Missense 84/91 - 2
2-141055390-G-T c.12954C>A p.D4318E Missense 84/91 - 3
2-141055392-C-A c.12952G>T p.D4318Y Missense 84/91 - 1
2-141055393-T-A c.12951A>T p.G4317= Synonymous 84/91 - 2
2-141055395-C-A c.12949G>T p.G4317* Nonsense 84/91 - 2
2-141055395-C-T c.12949G>A p.G4317R Missense 84/91 - 7
2-141055396-G-A c.12948C>T p.T4316= Synonymous 84/91 - 2
2-141055396-G-C c.12948C>G p.T4316= Synonymous 84/91 - 2
2-141055396-G-T c.12948C>A p.T4316= Synonymous 84/91 - 3
2-141055399-G-C c.12945C>G p.Y4315* Nonsense 84/91 - 1
2-141055405-C-A c.12939G>T p.P4313= Synonymous 84/91 - 3
2-141055405-C-G c.12939G>C p.P4313= Synonymous 84/91 - 2
2-141055405-C-T c.12939G>A p.P4313= Synonymous 84/91 - 3
2-141055406-G-A c.12938C>T p.P4313L Missense 84/91 - 7
2-141055406-G-T c.12938C>A p.P4313Q Missense 84/91 - 5
2-141055407-G-A c.12937C>T p.P4313S Missense 84/91 - 2
2-141055412-C-A c.12932G>T p.C4311F Missense 84/91 - 1
2-141055412-C-T c.12932G>A p.C4311Y Missense 84/91 - 1
2-141055416-G-A c.12928C>T p.H4310Y Missense 84/91 - 2
2-141055418-C-A c.12926G>T p.C4309F Missense 84/91 - 3
2-141055418-C-T c.12926G>A p.C4309Y Missense 84/91 - 1
2-141055418-C-G c.12926G>C p.C4309S Missense 84/91 - 3
2-141055419-A-T c.12925T>A p.C4309S Missense 84/91 - 6
2-141055420-G-A c.12924C>T p.Y4308= Synonymous 84/91 - 2
2-141055420-G-C c.12924C>G p.Y4308* Nonsense 84/91 - 1
2-141055420-G-T c.12924C>A p.Y4308* Nonsense 84/91 - 3
2-141055423-A-C c.12921T>G p.P4307= Synonymous 84/91 - 1
2-141055425-G-A c.12919C>T p.P4307S Missense 84/91 - 1
2-141055428-G-T c.12916C>A p.Q4306K Missense 84/91 - 1
2-141055429-G-C c.12915C>G p.N4305K Missense 84/91 - 1
2-141055429-G-T c.12915C>A p.N4305K Missense 84/91 - 2
2-141055430-T-C c.12914A>G p.N4305S Missense 84/91 - 1
2-141055430-T-G c.12914A>C p.N4305T Missense 84/91 - 1
2-141055433-C-T c.12911G>A p.G4304E Missense 84/91 - 10
2-141055434-C-A c.12910G>T p.G4304* Nonsense 84/91 - 1
2-141055436-G-T c.12908C>A p.A4303D Missense 84/91 - 1
2-141055441-C-T c.12903G>A p.V4301= Synonymous 84/91 - 3
2-141055447-G-A c.12897C>T p.C4299= Synonymous 84/91 - 1
2-141055447-G-T c.12897C>A p.C4299* Nonsense 84/91 - 1
2-141055449-A-C c.12895T>G p.C4299G Missense 84/91 - 1
2-141055450-G-A c.12894C>T p.T4298= Synonymous 84/91 - 1
2-141055450-G-C c.12894C>G p.T4298= Synonymous 84/91 - 1
2-141055450-G-T c.12894C>A p.T4298= Synonymous 84/91 - 1
2-141055451-G-C c.12893C>G p.T4298S Missense 84/91 - 3
2-141055452-T-A c.12892A>T p.T4298S Missense 84/91 - 2
2-141055452-T-C c.12892A>G p.T4298A Missense 84/91 - 1
2-141055454-C-A c.12890G>T p.G4297V Missense 84/91 - 1
2-141055455-C-A c.12889G>T p.G4297* Nonsense 84/91 - 3
2-141055457-C-A c.12887G>T p.G4296V Missense 84/91 - 1
2-141055458-C-T c.12886G>A p.G4296R Missense 84/91 - 4
2-141055459-A-G c.12885T>C p.N4295= Synonymous 84/91 - 1
2-141055460-T-C c.12884A>G p.N4295S Missense 84/91 - 1
2-141055463-T-G c.12881A>C p.Q4294P Missense 84/91 - 1
2-141055464-GAC-G c.12878_12879del p.C4293Sfs*40 Frameshift 84/91 - 1
2-141055466-C-A c.12878G>T p.C4293F Missense 84/91 - 1
2-141055466-C-T c.12878G>A p.C4293Y Missense 84/91 - 1
2-141055470-A-C c.12874T>G p.F4292V Missense 84/91 - 1
2-141055473-C-A c.12871G>T p.D4291Y Missense 84/91 - 1
2-141055473-C-T c.12871G>A p.D4291N Missense 84/91 - 7
2-141055474-C-T c.12870G>A p.E4290= Synonymous 84/91 - 2
2-141055476-C-T c.12868G>A p.E4290K Missense 84/91 - 1
2-141055478-C-T c.12866G>A p.C4289Y Missense 84/91 - 1
2-141055480-G-A c.12864C>T p.V4288= Synonymous 84/91 - 2
2-141055480-G-C c.12864C>G p.V4288= Synonymous 84/91 - 1
2-141055480-G-T c.12864C>A p.V4288= Synonymous 84/91 - 1
2-141055482-C-A c.12862G>T p.V4288F Missense 84/91 - 1
2-141055483-TG-CA c.12860_12861inv p.T4287M Missense 84/91 - 1
2-141055489-AC-CT c.12854_12855delinsAG p.G4285E Missense 84/91 - 1
2-141055490-C-T c.12854G>A p.G4285D Missense 84/91 - 1
2-141055491-C-A c.12853G>T p.G4285C Missense 84/91 - 2
2-141055493-C-T c.12851G>A p.C4284Y Missense 84/91 - 2
2-141055498-T-C c.12846A>G p.P4282= Synonymous 84/91 - 1
2-141055499-G-T c.12845C>A p.P4282Q Missense 84/91 - 1
2-141055500-G-T c.12844C>A p.P4282T Missense 84/91 - 2
2-141055501-C-T c.12843G>A p.G4281= Synonymous 84/91 - 1
2-141055503-C-A c.12841G>T p.G4281W Missense 84/91 - 1
2-141055505-G-C c.12839C>G p.T4280S Missense 84/91 - 1
2-141055506-T-A c.12838A>T p.T4280S Missense 84/91 - 1
2-141055507-G-A c.12837C>T p.F4279= Synonymous 84/91 - 1
2-141055509-A-C c.12835T>G p.F4279V Missense 84/91 - 2
2-141055511-C-A c.12833G>T p.G4278V Missense 84/91 - 1
2-141055512-C-A c.12832G>T p.G4278C Missense 84/91 - 1
2-141055513-C-A c.12831G>T p.L4277= Synonymous 84/91 - 1
2-141055513-C-G c.12831G>C p.L4277= Synonymous 84/91 - 1
2-141055513-C-T c.12831G>A p.L4277= Synonymous 84/91 - 1
2-141055515-G-A c.12829C>T p.L4277= Synonymous 84/91 - 1
2-141055516-T-A c.12828A>T p.A4276= Synonymous 84/91 - 1
2-141055516-T-C c.12828A>G p.A4276= Synonymous 84/91 - 3
2-141055516-T-G c.12828A>C p.A4276= Synonymous 84/91 - 3
2-141055517-G-T c.12827C>A p.A4276E Missense 84/91 - 2
2-141055518-C-A c.12826G>T p.A4276S Missense 84/91 - 1
2-141055519-A-G c.12825T>C p.C4275= Synonymous 84/91 - 1
2-141055523-C-A c.12821G>T p.S4274I Missense 84/91 - 1
2-141055523-GC-G c.12821del p.S4274Tfs*28 Frameshift 84/91 - 1
2-141055524-T-A c.12820A>T p.S4274C Missense 84/91 - 2
2-141055525-G-A c.12819C>T p.C4273= Synonymous 84/91 - 1
2-141055529-G-A c.12815C>T p.T4272I Missense 84/91 - 2
2-141055531-G-A c.12813C>T p.P4271= Synonymous 84/91 - 1
2-141055531-G-C c.12813C>G p.P4271= Synonymous 84/91 - 1
2-141055531-G-T c.12813C>A p.P4271= Synonymous 84/91 - 2
2-141055532-G-C c.12812C>G p.P4271R Missense 84/91 - 2
2-141055532-G-T c.12812C>A p.P4271H Missense 84/91 - 5
2-141055533-G-A c.12811C>T p.P4271S Missense 84/91 - 1
2-141055537-C-A c.12807G>T p.G4269= Synonymous 84/91 - 1
2-141055537-C-T c.12807G>A p.G4269= Synonymous 84/91 - 3
2-141063654-A-G c.12806-8116T>C - IntronicSNV - 83/90 1
2-141063654-A-T c.12806-8116T>A - IntronicSNV - 83/90 1
2-141070284-C-G c.12805+2220G>C - IntronicSNV - 83/90 1
2-141072495-A-T c.12805+9T>A - IntronicSNV - 83/90 1
2-141072502-A-G c.12805+2T>C - IntronicSNV - 83/90 1
2-141072504-C-A c.12805G>T p.G4269W Missense 83/91 - 1
2-141072505-T-A c.12804A>T p.L4268= Synonymous 83/91 - 2
2-141072505-T-C c.12804A>G p.L4268= Synonymous 83/91 - 1
2-141072505-T-G c.12804A>C p.L4268= Synonymous 83/91 - 1
2-141072506-A-G c.12803T>C p.L4268P Missense 83/91 - 5
2-141072507-G-A c.12802C>T p.L4268= Synonymous 83/91 - 4
2-141072507-G-T c.12802C>A p.L4268I Missense 83/91 - 6
2-141072508-A-G c.12801T>C p.V4267= Synonymous 83/91 - 1
2-141072512-G-A c.12797C>T p.S4266L Missense 83/91 - 3
2-141072512-G-T c.12797C>A p.S4266* Nonsense 83/91 - 2
2-141072513-A-G c.12796T>C p.S4266P Missense 83/91 - 1
2-141072515-GG-TT c.12793_12794delinsAA p.P4265K Missense 83/91 - 2
2-141072519-C-A c.12790G>T p.V4264L Missense 83/91 - 4
2-141072519-C-G c.12790G>C p.V4264L Missense 83/91 - 10
2-141072519-C-T c.12790G>A p.V4264I Missense 83/91 - 4
2-141072520-G-A c.12789C>T p.C4263= Synonymous 83/91 - 4
2-141072520-G-T c.12789C>A p.C4263* Nonsense 83/91 - 1
2-141072521-C-T c.12788G>A p.C4263Y Missense 83/91 - 2
2-141072523-A-C c.12786T>G p.T4262= Synonymous 83/91 - 1
2-141072523-A-G c.12786T>C p.T4262= Synonymous 83/91 - 3
2-141072523-A-T c.12786T>A p.T4262= Synonymous 83/91 - 1
2-141072525-T-C c.12784A>G p.T4262A Missense 83/91 - 1
2-141072527-C-A c.12782G>T p.G4261V Missense 83/91 - 2
2-141072527-C-T c.12782G>A p.G4261E Missense 83/91 - 4
2-141072528-C-T c.12781G>A p.G4261R Missense 83/91 - 1
2-141072529-T-G c.12780A>C p.G4260= Synonymous 83/91 - 3
2-141072530-C-G c.12779G>C p.G4260A Missense 83/91 - 1
2-141072530-C-T c.12779G>A p.G4260E Missense 83/91 - 2
2-141072531-C-A c.12778G>T p.G4260* Nonsense 83/91 - 1
2-141072531-C-T c.12778G>A p.G4260R Missense 83/91 - 5
2-141072534-T-C c.12775A>G p.N4259D Missense 83/91 - 1
2-141072536-T-C c.12773A>G p.Q4258R Missense 83/91 - 3
2-141072538-G-T c.12771C>A p.C4257* Nonsense 83/91 - 1
2-141072542-T-C c.12767A>G p.Y4256C Missense 83/91 - 1
2-141072548-C-T c.12761G>A p.S4254N Missense 83/91 - 4
2-141072552-A-T c.12757T>A p.C4253S Missense 83/91 - 2
2-141072555-G-T c.12754C>A p.H4252N Missense 83/91 - 2
2-141072557-T-A c.12752A>T p.N4251I Missense 83/91 - 1
2-141072560-A-G c.12749T>C p.V4250A Missense 83/91 - 1
2-141072560-A-T c.12749T>A p.V4250D Missense 83/91 - 2
2-141072562-T-A c.12747A>T p.E4249D Missense 83/91 - 1
2-141072562-T-G c.12747A>C p.E4249D Missense 83/91 - 1
2-141072564-C-T c.12745G>A p.E4249K Missense 83/91 - 5
2-141072566-C-A c.12743G>T p.C4248F Missense 83/91 - 2
2-141072567-A-T c.12742T>A p.C4248S Missense 83/91 - 1
2-141072569-C-G c.12740G>C p.R4247T Missense 83/91 - 1
2-141072572-T-C c.12737A>G p.E4246G Missense 83/91 - 2
2-141072573-C-T c.12736G>A p.E4246K Missense 83/91 - 2
2-141072574-T-A c.12735A>T p.G4245= Synonymous 83/91 - 1
2-141072574-T-C c.12735A>G p.G4245= Synonymous 83/91 - 1
2-141072574-T-G c.12735A>C p.G4245= Synonymous 83/91 - 1
2-141072575-C-T c.12734G>A p.G4245E Missense 83/91 - 1
2-141072577-T-A c.12732A>T p.S4244= Synonymous 83/91 - 2
2-141072578-G-A c.12731C>T p.S4244L Missense 83/91 - 4
2-141072579-A-G c.12730T>C p.S4244P Missense 83/91 - 1
2-141072590-C-A c.12719G>T p.W4240L Missense 83/91 - 1
2-141072590-C-T c.12719G>A p.W4240* Nonsense 83/91 - 1
2-141072593-C-A c.12716G>T p.C4239F Missense 83/91 - 1
2-141072595-G-A c.12714C>T p.H4238= Synonymous 83/91 - 2
2-141072595-G-T c.12714C>A p.H4238Q Missense 83/91 - 1
2-141072596-T-G c.12713A>C p.H4238P Missense 83/91 - 1
2-141072597-G-A c.12712C>T p.H4238Y Missense 83/91 - 1
2-141072603-T-C c.12706A>G p.R4236G Missense 83/91 - 2
2-141072604-C-A c.12705G>T p.L4235F Missense 83/91 - 6
2-141072604-C-G c.12705G>C p.L4235F Missense 83/91 - 4
2-141072609-C-T c.12700G>A p.D4234N Missense 83/91 - 8
2-141072610-A-G c.12699T>C p.G4233= Synonymous 83/91 - 1
2-141072612-C-A c.12697G>T p.G4233C Missense 83/91 - 3
2-141072616-C-A c.12693G>T p.E4231D Missense 83/91 - 2
2-141072616-C-G c.12693G>C p.E4231D Missense 83/91 - 3
2-141072618-C-A c.12691G>T p.E4231* Nonsense 83/91 - 1
2-141072620-T-G c.12689A>C p.N4230T Missense 83/91 - 1
2-141072621-T-TA c.12687_12688insT p.N4230* Nonsense 83/91 - 1
2-141072623-A-C c.12686T>G p.L4229* Nonsense 83/91 - 1
2-141072623-A-T c.12686T>A p.L4229* Nonsense 83/91 - 2
2-141072631-TC-CA c.12677_12678delinsTG p.R4226M Missense 83/91 - 1
2-141072633-T-C c.12676A>G p.R4226G Missense 83/91 - 4
2-141072635-C-A c.12674G>T p.G4225V Missense 83/91 - 3
2-141072635-C-T c.12674G>A p.G4225E Missense 83/91 - 2
2-141072636-C-G c.12673G>C p.G4225R Missense 83/91 - 1
2-141072636-C-T c.12673G>A p.G4225R Missense 83/91 - 2
2-141072638-C-T c.12671G>A p.G4224E Missense 83/91 - 2
2-141072639-C-A c.12670G>T p.G4224* Nonsense 83/91 - 1
2-141072639-C-G c.12670G>C p.G4224R Missense 83/91 - 1
2-141072639-C-T c.12670G>A p.G4224R Missense 83/91 - 1
2-141072640-AT-A c.12668del p.N4223Mfs*7 Frameshift 83/91 - 1
2-141072645-C-A c.12664G>T p.E4222* Nonsense 83/91 - 1
2-141072647-C-G c.12662G>C p.C4221S Missense 83/91 - 2
2-141072648-A-G c.12661T>C p.C4221R Missense 83/91 - 1
2-141072648-A-T c.12661T>A p.C4221S Missense 83/91 - 1
2-141072649-A-C c.12660T>G p.T4220= Synonymous 83/91 - 1
2-141072650-G-A c.12659C>T p.T4220I Missense 83/91 - 1
2-141072650-G-C c.12659C>G p.T4220S Missense 83/91 - 4
2-141072651-T-A c.12658A>T p.T4220S Missense 83/91 - 4
2-141072654-A-C c.12655T>G p.L4219V Missense 83/91 - 2
2-141072656-T-C c.12653A>G p.K4218R Missense 83/91 - 1
2-141072656-T-G c.12653A>C p.K4218T Missense 83/91 - 4
2-141072657-T-A c.12652A>T p.K4218* Nonsense 83/91 - 2
2-141072660-A-T c.12649T>A p.C4217S Missense 83/91 - 1
2-141072662-G-C c.12647C>G p.S4216* Nonsense 83/91 - 3
2-141072662-G-T c.12647C>A p.S4216* Nonsense 83/91 - 5
2-141072664-A-G c.12645T>C p.D4215= Synonymous 83/91 - 2
2-141072666-C-G c.12643G>C p.D4215H Missense 83/91 - 1
2-141072666-C-T c.12643G>A p.D4215N Missense 83/91 - 2
2-141079400-G-A c.12640+132C>T - IntronicSNV - 82/90 1
2-141079523-T-C c.12640+9A>G - IntronicSNV - 82/90 1
2-141079531-C-A c.12640+1G>T - IntronicSNV - 82/90 1
2-141079532-C-A c.12640G>T p.D4214Y Missense 82/91 - 1
2-141079536-C-T c.12636G>A p.L4212= Synonymous 82/91 - 1
2-141079538-G-T c.12634C>A p.L4212M Missense 82/91 - 3
2-141079539-G-T c.12633C>A p.S4211R Missense 82/91 - 2
2-141079542-G-T c.12630C>A p.D4210E Missense 82/91 - 1
2-141079543-T-C c.12629A>G p.D4210G Missense 82/91 - 1
2-141079546-T-C c.12626A>G p.D4209G Missense 82/91 - 2
2-141079547-C-A c.12625G>T p.D4209Y Missense 82/91 - 3
2-141079549-T-C c.12623A>G p.N4208S Missense 82/91 - 1
2-141079550-T-A c.12622A>T p.N4208Y Missense 82/91 - 4
2-141079552-C-A c.12620G>T p.C4207F Missense 82/91 - 1
2-141079552-C-T c.12620G>A p.C4207Y Missense 82/91 - 2
2-141079555-G-C c.12617C>G p.T4206S Missense 82/91 - 2
2-141079555-G-T c.12617C>A p.T4206N Missense 82/91 - 1
2-141079556-T-A c.12616A>T p.T4206S Missense 82/91 - 1
2-141079556-T-G c.12616A>C p.T4206P Missense 82/91 - 1
2-141079558-C-A c.12614G>T p.G4205V Missense 82/91 - 4
2-141079558-C-G c.12614G>C p.G4205A Missense 82/91 - 1
2-141079558-C-T c.12614G>A p.G4205D Missense 82/91 - 5
2-141079559-C-T c.12613G>A p.G4205S Missense 82/91 - 3
2-141079561-T-C c.12611A>G p.N4204S Missense 82/91 - 5
2-141079561-T-G c.12611A>C p.N4204T Missense 82/91 - 3
2-141079562-T-A c.12610A>T p.N4204Y Missense 82/91 - 2
2-141079566-C-A c.12606G>T p.L4202F Missense 82/91 - 1
2-141079566-C-G c.12606G>C p.L4202F Missense 82/91 - 2
2-141079566-TC-T c.12606del p.I4203Lfs*11 Frameshift 82/91 - 1
2-141079567-A-G c.12605T>C p.L4202S Missense 82/91 - 4
2-141079567-A-T c.12605T>A p.L4202* Nonsense 82/91 - 4
2-141079572-T-A c.12600A>T p.K4200N Missense 82/91 - 2
2-141079572-T-G c.12600A>C p.K4200N Missense 82/91 - 3
2-141079576-C-T c.12596G>A p.G4199E Missense 82/91 - 18
2-141079577-C-G c.12595G>C p.G4199R Missense 82/91 - 2
2-141079577-C-T c.12595G>A p.G4199R Missense 82/91 - 6
2-141079579-T-C c.12593A>G p.E4198G Missense 82/91 - 3
2-141079580-C-A c.12592G>T p.E4198* Nonsense 82/91 - 1
2-141079580-C-T c.12592G>A p.E4198K Missense 82/91 - 1
2-141079582-G-A c.12590C>T p.P4197L Missense 82/91 - 1
2-141079582-G-T c.12590C>A p.P4197Q Missense 82/91 - 1
2-141079583-G-C c.12589C>G p.P4197A Missense 82/91 - 1
2-141079583-G-T c.12589C>A p.P4197T Missense 82/91 - 2
2-141079585-C-T c.12587G>A p.C4196Y Missense 82/91 - 1
2-141079587-C-A c.12585G>T p.V4195= Synonymous 82/91 - 1
2-141079589-C-A c.12583G>T p.V4195L Missense 82/91 - 1
2-141079589-C-T c.12583G>A p.V4195M Missense 82/91 - 2
2-141079590-A-G c.12582T>C p.C4194= Synonymous 82/91 - 1
2-141079591-C-A c.12581G>T p.C4194F Missense 82/91 - 1
2-141079591-C-T c.12581G>A p.C4194Y Missense 82/91 - 3
2-141079594-G-A c.12578C>T p.T4193I Missense 82/91 - 1
2-141079596-G-A c.12576C>T p.A4192= Synonymous 82/91 - 2
2-141079597-G-A c.12575C>T p.A4192V Missense 82/91 - 3
2-141079599-C-A c.12573G>T p.G4191= Synonymous 82/91 - 1
2-141079600-C-A c.12572G>T p.G4191V Missense 82/91 - 3
2-141079600-C-G c.12572G>C p.G4191A Missense 82/91 - 2
2-141079600-C-T c.12572G>A p.G4191E Missense 82/91 - 1
2-141079597-G-GC c.12574dup p.A4192Gfs*13 Frameshift 82/91 - 1
2-141079601-C-T c.12571G>A p.G4191R Missense 82/91 - 2
2-141079602-A-C c.12570T>G p.S4190= Synonymous 82/91 - 1
2-141079602-A-G c.12570T>C p.S4190= Synonymous 82/91 - 1
2-141079602-A-T c.12570T>A p.S4190= Synonymous 82/91 - 2
2-141079606-G-A c.12566C>T p.P4189L Missense 82/91 - 6
2-141079606-GG-AA c.12565_12566delinsTT p.P4189F Missense 82/91 - 3
2-141079606-G-T c.12566C>A p.P4189H Missense 82/91 - 2
2-141079607-G-A c.12565C>T p.P4189S Missense 82/91 - 7
2-141079607-G-C c.12565C>G p.P4189A Missense 82/91 - 2
2-141079611-T-A c.12561A>T p.L4187= Synonymous 82/91 - 1
2-141079612-A-G c.12560T>C p.L4187P Missense 82/91 - 1
2-141079612-A-T c.12560T>A p.L4187Q Missense 82/91 - 3
2-141079615-A-G c.12557T>C p.L4186S Missense 82/91 - 2
2-141079616-A-T c.12556T>A p.L4186M Missense 82/91 - 1
2-141079617-G-A c.12555C>T p.C4185= Synonymous 82/91 - 2
2-141079618-C-A c.12554G>T p.C4185F Missense 82/91 - 1
2-141079619-A-G c.12553T>C p.C4185R Missense 82/91 - 1
2-141079619-CAAA-C c.12551_12553del p.L4184_C4185delinsR MultiAAMissense 82/91 - 1
2-141079621-A-G c.12551T>C p.L4184P Missense 82/91 - 4
2-141079622-G-A c.12550C>T p.L4184F Missense 82/91 - 2
2-141079622-G-T c.12550C>A p.L4184I Missense 82/91 - 1
2-141079623-A-T c.12549T>A p.F4183L Missense 82/91 - 5
2-141079624-A-C c.12548T>G p.F4183C Missense 82/91 - 5
2-141079623-A-C c.12549T>G p.F4183L Missense 82/91 - 2
2-141079625-A-G c.12547T>C p.F4183L Missense 82/91 - 2
2-141079626-T-A c.12546A>T p.E4182D Missense 82/91 - 4
2-141079628-C-A c.12544G>T p.E4182* Nonsense 82/91 - 1
2-141079628-C-T c.12544G>A p.E4182K Missense 82/91 - 11
2-141079629-G-A c.12543C>T p.C4181= Synonymous 82/91 - 3
2-141079629-G-T c.12543C>A p.C4181* Nonsense 82/91 - 5
2-141079630-C-T c.12542G>A p.C4181Y Missense 82/91 - 1
2-141079633-G-T c.12539C>A p.A4180E Missense 82/91 - 1
2-141079634-C-T c.12538G>A p.A4180T Missense 82/91 - 1
2-141079638-A-G c.12534T>C p.D4178= Synonymous 82/91 - 1
2-141079640-C-T c.12532G>A p.D4178N Missense 82/91 - 2
2-141079641-C-A c.12531G>T p.L4177F Missense 82/91 - 1
2-141079641-C-G c.12531G>C p.L4177F Missense 82/91 - 2
2-141079644-G-T c.12528C>A p.C4176* Nonsense 82/91 - 1
2-141079646-A-T c.12526T>A p.C4176S Missense 82/91 - 2
2-141079648-G-A c.12524C>T p.P4175L Missense 82/91 - 1
2-141079648-GG-AT c.12523_12524delinsAT p.P4175I Missense 82/91 - 1
2-141079648-G-T c.12524C>A p.P4175Q Missense 82/91 - 1
2-141079649-G-A c.12523C>T p.P4175S Missense 82/91 - 3
2-141079649-G-C c.12523C>G p.P4175A Missense 82/91 - 1
2-141079652-T-C c.12520A>G p.N4174D Missense 82/91 - 1
2-141079653-G-A c.12519C>T p.P4173= Synonymous 82/91 - 1
2-141079653-G-C c.12519C>G p.P4173= Synonymous 82/91 - 1
2-141079653-G-T c.12519C>A p.P4173= Synonymous 82/91 - 1
2-141079654-G-T c.12518C>A p.P4173H Missense 82/91 - 8
2-141079657-A-G c.12515T>C p.L4172S Missense 82/91 - 3
2-141080797-C-A c.12514+665G>T - IntronicSNV - 81/90 1
2-141081087-TGGGTGCAGCACACC-T c.12514+362_12514+375del - IntronicDeletion - 81/90 1
2-141081257-T-A c.12514+205A>T - IntronicSNV - 81/90 1
2-141081447-A-G c.12514+15T>C - IntronicSNV - 81/90 1
2-141081465-C-A c.12511G>T p.D4171Y Missense 81/91 - 2
2-141081465-C-T c.12511G>A p.D4171N Missense 81/91 - 2
2-141081466-T-A c.12510A>T p.L4170= Synonymous 81/91 - 1
2-141081466-T-C c.12510A>G p.L4170= Synonymous 81/91 - 2
2-141081466-T-G c.12510A>C p.L4170= Synonymous 81/91 - 1
2-141081468-G-A c.12508C>T p.L4170= Synonymous 81/91 - 1
2-141081469-T-A c.12507A>T p.Q4169H Missense 81/91 - 1
2-141081469-T-C c.12507A>G p.Q4169= Synonymous 81/91 - 1
2-141081474-T-A c.12502A>T p.K4168* Nonsense 81/91 - 4
2-141081476-T-C c.12500A>G p.Y4167C Missense 81/91 - 1
2-141081479-C-A c.12497G>T p.R4166L Missense 81/91 - 1
2-141081479-C-T c.12497G>A p.R4166H Missense 81/91 - 6
2-141081480-G-A c.12496C>T p.R4166C Missense 81/91 - 13
2-141081482-T-A c.12494A>T p.H4165L Missense 81/91 - 1
2-141081482-T-G c.12494A>C p.H4165P Missense 81/91 - 2
2-141081483-G-A c.12493C>T p.H4165Y Missense 81/91 - 4
2-141081483-G-T c.12493C>A p.H4165N Missense 81/91 - 2
2-141081484-A-T c.12492T>A p.S4164= Synonymous 81/91 - 2
2-141081485-G-A c.12491C>T p.S4164F Missense 81/91 - 1
2-141081485-G-T c.12491C>A p.S4164Y Missense 81/91 - 5
2-141081488-A-G c.12488T>C p.I4163T Missense 81/91 - 1
2-141081489-T-A c.12487A>T p.I4163L Missense 81/91 - 1
2-141081489-T-C c.12487A>G p.I4163V Missense 81/91 - 2
2-141081489-T-G c.12487A>C p.I4163L Missense 81/91 - 1
2-141081490-C-A c.12486G>T p.L4162F Missense 81/91 - 2
2-141081490-C-G c.12486G>C p.L4162F Missense 81/91 - 1
2-141081490-C-T c.12486G>A p.L4162= Synonymous 81/91 - 1
2-141081491-AA-GG c.12484_12485delinsCC p.L4162P Missense 81/91 - 1
2-141081491-A-G c.12485T>C p.L4162S Missense 81/91 - 1
2-141081496-A-G c.12480T>C p.G4160= Synonymous 81/91 - 1
2-141081497-ACCT-A c.12477_12479del p.K4159_G4160delinsN MultiAAMissense 81/91 - 1
2-141081497-C-A c.12479G>T p.G4160V Missense 81/91 - 3
2-141081497-C-T c.12479G>A p.G4160D Missense 81/91 - 1
2-141081498-C-A c.12478G>T p.G4160C Missense 81/91 - 3
2-141081499-T-A c.12477A>T p.K4159N Missense 81/91 - 2
2-141081499-T-G c.12477A>C p.K4159N Missense 81/91 - 4
2-141081498-C-CT c.12477dup p.G4160Rfs*9 Frameshift 81/91 - 1
2-141081506-T-G c.12470A>C p.K4157T Missense 81/91 - 2
2-141081508-A-T c.12468T>A p.D4156E Missense 81/91 - 1
2-141081510-C-G c.12466G>C p.D4156H Missense 81/91 - 3
2-141081510-C-T c.12466G>A p.D4156N Missense 81/91 - 4
2-141081520-A-C c.12456T>G p.A4152= Synonymous 81/91 - 2
2-141081520-A-G c.12456T>C p.A4152= Synonymous 81/91 - 2
2-141081520-A-T c.12456T>A p.A4152= Synonymous 81/91 - 2
2-141081521-AG-A c.12455del p.A4152Vfs*2 Frameshift 81/91 - 1
2-141081521-G-A c.12455C>T p.A4152V Missense 81/91 - 1
2-141081526-G-C c.12450C>G p.Y4150* Nonsense 81/91 - 1
2-141081526-G-T c.12450C>A p.Y4150* Nonsense 81/91 - 1
2-141081527-T-C c.12449A>G p.Y4150C Missense 81/91 - 1
2-141081530-T-C c.12446A>G p.E4149G Missense 81/91 - 5
2-141081531-C-A c.12445G>T p.E4149* Nonsense 81/91 - 5
2-141081533-A-G c.12443T>C p.V4148A Missense 81/91 - 8
2-141081534-C-G c.12442G>C p.V4148L Missense 81/91 - 1
2-141081535-T-G c.12441A>C p.S4147= Synonymous 81/91 - 1
2-141081536-G-A c.12440C>T p.S4147L Missense 81/91 - 7
2-141081537-A-C c.12439T>G p.S4147A Missense 81/91 - 3
2-141081539-C-T c.12437G>A p.G4146D Missense 81/91 - 3
2-141081540-C-G c.12436G>C p.G4146R Missense 81/91 - 1
2-141081540-C-T c.12436G>A p.G4146S Missense 81/91 - 6
2-141081541-A-C c.12435T>G p.H4145Q Missense 81/91 - 1
2-141081541-A-T c.12435T>A p.H4145Q Missense 81/91 - 1
2-141081542-T-C c.12434A>G p.H4145R Missense 81/91 - 1
2-141081543-G-T c.12433C>A p.H4145N Missense 81/91 - 2
2-141081545-C-A c.12431G>T p.G4144V Missense 81/91 - 1
2-141081545-C-G c.12431G>C p.G4144A Missense 81/91 - 5
2-141081545-C-T c.12431G>A p.G4144D Missense 81/91 - 3
2-141081546-C-A c.12430G>T p.G4144C Missense 81/91 - 1
2-141081547-A-T c.12429T>A p.F4143L Missense 81/91 - 1
2-141081548-A-C c.12428T>G p.F4143C Missense 81/91 - 2
2-141081553-T-A c.12423A>T p.Q4141H Missense 81/91 - 1
2-141081555-G-A c.12421C>T p.Q4141* Nonsense 81/91 - 3
2-141081555-G-C c.12421C>G p.Q4141E Missense 81/91 - 6
2-141081555-G-T c.12421C>A p.Q4141K Missense 81/91 - 1
2-141081558-C-A c.12418G>T p.V4140F Missense 81/91 - 1
2-141081560-C-T c.12416G>A p.R4139Q Missense 81/91 - 1
2-141081561-G-A c.12415C>T p.R4139* Nonsense 81/91 - 12
2-141081561-G-C c.12415C>G p.R4139G Missense 81/91 - 2
2-141081568-A-G c.12408T>C p.G4136= Synonymous 81/91 - 2
2-141081570-C-A c.12406G>T p.G4136C Missense 81/91 - 1
2-141081570-C-T c.12406G>A p.G4136S Missense 81/91 - 3
2-141081572-T-G c.12404A>C p.N4135T Missense 81/91 - 1
2-141081574-T-A c.12402A>T p.K4134N Missense 81/91 - 2
2-141081574-T-C c.12402A>G p.K4134= Synonymous 81/91 - 1
2-141081574-T-G c.12402A>C p.K4134N Missense 81/91 - 2
2-141081571-AT-A c.12404del p.N4135Mfs*14 Frameshift 81/91 - 3
2-141081576-T-C c.12400A>G p.K4134E Missense 81/91 - 1
2-141081575-T-TTAAATATCTTAAC c.12400_12401insGTTAAGATATTTA p.K4134Sfs*2 Frameshift 81/91 - 1
2-141081578-G-A c.12398C>T p.P4133L Missense 81/91 - 6
2-141081578-G-C c.12398C>G p.P4133R Missense 81/91 - 1
2-141081579-G-T c.12397C>A p.P4133T Missense 81/91 - 1
2-141081581-C-A c.12395G>T p.G4132V Missense 81/91 - 2
2-141081581-C-G c.12395G>C p.G4132A Missense 81/91 - 2
2-141081582-C-A c.12394G>T p.G4132* Nonsense 81/91 - 5
2-141081582-C-T c.12394G>A p.G4132R Missense 81/91 - 2
2-141081584-G-T c.12392C>A p.A4131E Missense 81/91 - 2
2-141081585-C-A c.12391G>T p.A4131S Missense 81/91 - 1
2-141081585-C-T c.12391G>A p.A4131T Missense 81/91 - 2
2-141081587-C-A c.12389G>T p.G4130V Missense 81/91 - 2
2-141081587-C-T c.12389G>A p.G4130E Missense 81/91 - 8
2-141081588-C-A c.12388G>T p.G4130* Nonsense 81/91 - 1
2-141081588-C-G c.12388G>C p.G4130R Missense 81/91 - 1
2-141081588-C-T c.12388G>A p.G4130R Missense 81/91 - 2
2-141081590-T-C c.12386A>G p.Y4129C Missense 81/91 - 8
2-141081591-A-T c.12385T>A p.Y4129N Missense 81/91 - 3
2-141081592-T-C c.12384A>G p.I4128M Missense 81/91 - 5
2-141081593-A-G c.12383T>C p.I4128T Missense 81/91 - 1
2-141081598-A-T c.12378T>A p.D4126E Missense 81/91 - 2
2-141081600-C-T c.12376G>A p.D4126N Missense 81/91 - 4
2-141081602-T-G c.12374A>C p.E4125A Missense 81/91 - 1
2-141081603-C-T c.12373G>A p.E4125K Missense 81/91 - 3
2-141081604-A-G c.12372T>C p.F4124= Synonymous 81/91 - 1
2-141081605-A-G c.12371T>C p.F4124S Missense 81/91 - 1
2-141081606-A-C c.12370T>G p.F4124V Missense 81/91 - 1
2-141081606-A-T c.12370T>A p.F4124I Missense 81/91 - 4
2-141081607-G-A c.12369C>T p.I4123= Synonymous 81/91 - 1
2-141081607-G-T c.12369C>A p.I4123= Synonymous 81/91 - 1
2-141081609-T-C c.12367A>G p.I4123V Missense 81/91 - 8
2-141081612-C-G c.12364G>C p.D4122H Missense 81/91 - 1
2-141081612-C-T c.12364G>A p.D4122N Missense 81/91 - 9
2-141081613-G-A c.12363C>T p.I4121= Synonymous 81/91 - 7
2-141081613-G-T c.12363C>A p.I4121= Synonymous 81/91 - 2
2-141081616-C-T c.12360G>A p.R4120= Synonymous 81/91 - 3
2-141081618-T-G c.12358A>C p.R4120= Synonymous 81/91 - 3
2-141081617-C-A c.12359G>T p.R4120M Missense 81/91 - 1
2-141081617-C-T c.12359G>A p.R4120K Missense 81/91 - 1
2-141081618-T-A c.12358A>T p.R4120W Missense 81/91 - 1
2-141081620-T-A c.12356A>T p.H4119L Missense 81/91 - 1
2-141081620-T-C c.12356A>G p.H4119R Missense 81/91 - 1
2-141081629-A-G c.12347T>C p.L4116S Missense 81/91 - 1
2-141081632-A-G c.12344T>C p.L4115S Missense 81/91 - 1
2-141081633-A-C c.12343T>G p.L4115V Missense 81/91 - 1
2-141081635-C-T c.12341G>A p.G4114D Missense 81/91 - 3
2-141083159-T-G c.12340+172A>C - IntronicSNV - 80/90 1
2-141083329-A-T c.12340+2T>A - IntronicSNV - 80/90 1
2-141083331-C-G c.12340G>C p.G4114R Missense 80/91 - 1
2-141083331-C-T c.12340G>A p.G4114S Missense 80/91 - 4
2-141083335-T-C c.12336A>G p.K4112= Synonymous 80/91 - 2
2-141083337-T-C c.12334A>G p.K4112E Missense 80/91 - 1
2-141083342-C-T c.12329G>A p.S4110N Missense 80/91 - 2
2-141083343-T-A c.12328A>T p.S4110C Missense 80/91 - 2
2-141083344-G-A c.12327C>T p.V4109= Synonymous 80/91 - 1
2-141083344-G-C c.12327C>G p.V4109= Synonymous 80/91 - 1
2-141083346-C-T c.12325G>A p.V4109I Missense 80/91 - 11
2-141083347-A-C c.12324T>G p.S4108= Synonymous 80/91 - 2
2-141083347-A-G c.12324T>C p.S4108= Synonymous 80/91 - 1
2-141083347-A-T c.12324T>A p.S4108= Synonymous 80/91 - 1
2-141083348-G-A c.12323C>T p.S4108F Missense 80/91 - 3
2-141083350-G-A c.12321C>T p.V4107= Synonymous 80/91 - 2
2-141083353-T-A c.12318A>T p.V4106= Synonymous 80/91 - 1
2-141083353-T-C c.12318A>G p.V4106= Synonymous 80/91 - 1
2-141083353-T-G c.12318A>C p.V4106= Synonymous 80/91 - 1
2-141083354-TA-T c.12317del p.V4106Efs*43 Frameshift 80/91 - 1
2-141083356-T-C c.12315A>G p.S4105= Synonymous 80/91 - 1
2-141083357-G-A c.12314C>T p.S4105L Missense 80/91 - 7
2-141083357-G-C c.12314C>G p.S4105* Nonsense 80/91 - 2
2-141083357-G-T c.12314C>A p.S4105* Nonsense 80/91 - 2
2-141083359-A-G c.12312T>C p.N4104= Synonymous 80/91 - 1
2-141083361-T-C c.12310A>G p.N4104D Missense 80/91 - 2
2-141083363-G-C c.12308C>G p.S4103C Missense 80/91 - 2
2-141083364-A-C c.12307T>G p.S4103A Missense 80/91 - 1
2-141083365-G-A c.12306C>T p.G4102= Synonymous 80/91 - 1
2-141083365-G-C c.12306C>G p.G4102= Synonymous 80/91 - 1
2-141083365-G-T c.12306C>A p.G4102= Synonymous 80/91 - 1
2-141083367-C-A c.12304G>T p.G4102C Missense 80/91 - 1
2-141083370-C-T c.12301G>A p.D4101N Missense 80/91 - 6
2-141083373-A-G c.12298T>C p.Y4100H Missense 80/91 - 1
2-141083376-G-A c.12295C>T p.L4099= Synonymous 80/91 - 1
2-141083376-G-T c.12295C>A p.L4099M Missense 80/91 - 1
2-141083378-A-C c.12293T>G p.V4098G Missense 80/91 - 1
2-141083384-C-A c.12287G>T p.G4096V Missense 80/91 - 2
2-141083385-C-T c.12286G>A p.G4096S Missense 80/91 - 2
2-141083385-C-CA c.12285dup p.G4096Wfs*6 Frameshift 80/91 - 1
2-141083389-G-A c.12282C>T p.I4094= Synonymous 80/91 - 3
2-141083393-G-A c.12278C>T p.S4093F Missense 80/91 - 1
2-141083394-A-G c.12277T>C p.S4093P Missense 80/91 - 3
2-141083400-C-A c.12271G>T p.E4091* Nonsense 80/91 - 6
2-141083403-A-C c.12268T>G p.F4090V Missense 80/91 - 1
2-141083405-T-G c.12266A>C p.D4089A Missense 80/91 - 2
2-141083407-A-T c.12264T>A p.A4088= Synonymous 80/91 - 2
2-141083409-C-T c.12262G>A p.A4088T Missense 80/91 - 2
2-141083410-C-A c.12261G>T p.W4087C Missense 80/91 - 4
2-141083410-C-G c.12261G>C p.W4087C Missense 80/91 - 3
2-141083413-A-T c.12258T>A p.Y4086* Nonsense 80/91 - 1
2-141083414-T-C c.12257A>G p.Y4086C Missense 80/91 - 2
2-141083415-A-G c.12256T>C p.Y4086H Missense 80/91 - 6
2-141083420-C-A c.12251G>T p.R4084L Missense 80/91 - 1
2-141083420-C-T c.12251G>A p.R4084H Missense 80/91 - 5
2-141083421-G-A c.12250C>T p.R4084C Missense 80/91 - 13
2-141083421-G-T c.12250C>A p.R4084S Missense 80/91 - 2
2-141083423-T-C c.12248A>G p.E4083G Missense 80/91 - 1
2-141083424-C-A c.12247G>T p.E4083* Nonsense 80/91 - 4
2-141083424-C-G c.12247G>C p.E4083Q Missense 80/91 - 1
2-141083424-C-T c.12247G>A p.E4083K Missense 80/91 - 2
2-141083425-A-G c.12246T>C p.S4082= Synonymous 80/91 - 1
2-141083426-C-A c.12245G>T p.S4082I Missense 80/91 - 3
2-141083426-C-T c.12245G>A p.S4082N Missense 80/91 - 2
2-141083427-T-A c.12244A>T p.S4082C Missense 80/91 - 1
2-141083429-A-C c.12242T>G p.F4081C Missense 80/91 - 5
2-141083431-A-C c.12240T>G p.Y4080* Nonsense 80/91 - 1
2-141083431-A-T c.12240T>A p.Y4080* Nonsense 80/91 - 1
2-141083435-T-C c.12236A>G p.D4079G Missense 80/91 - 1
2-141083436-C-A c.12235G>T p.D4079Y Missense 80/91 - 1
2-141083436-C-T c.12235G>A p.D4079N Missense 80/91 - 1
2-141083437-C-T c.12234G>A p.V4078= Synonymous 80/91 - 1
2-141083441-G-A c.12230C>T p.A4077V Missense 80/91 - 1
2-141083443-C-CA c.12227dup p.L4076Ffs*7 SpliceAcceptorInsertion 80/91 - 1
2-141083446-A-C c.12225T>G p.G4075= Synonymous 80/91 - 1
2-141083446-A-G c.12225T>C p.G4075= Synonymous 80/91 - 1
2-141083446-A-T c.12225T>A p.G4075= Synonymous 80/91 - 1
2-141083447-C-T c.12224G>A p.G4075D Missense 80/91 - 1
2-141084070-C-G c.12224-623G>C - IntronicSNV - 79/90 1
2-141084070-C-T c.12224-623G>A - IntronicSNV - 79/90 1
2-141091994-A-G c.12223+28T>C - IntronicSNV - 79/90 1
2-141092020-A-G c.12223+2T>C - IntronicSNV - 79/90 1
2-141092021-C-T c.12223+1G>A - IntronicSNV - 79/90 1
2-141092022-C-A c.12223G>T p.G4075C Missense 79/91 - 1
2-141092023-T-A c.12222A>T p.T4074= Synonymous 79/91 - 2
2-141092024-G-A c.12221C>T p.T4074I Missense 79/91 - 1
2-141092024-G-T c.12221C>A p.T4074K Missense 79/91 - 2
2-141092026-G-A c.12219C>T p.P4073= Synonymous 79/91 - 3
2-141092027-G-A c.12218C>T p.P4073L Missense 79/91 - 3
2-141092027-G-T c.12218C>A p.P4073H Missense 79/91 - 3
2-141092028-G-A c.12217C>T p.P4073S Missense 79/91 - 1
2-141092028-G-T c.12217C>A p.P4073T Missense 79/91 - 3
2-141092030-C-A c.12215G>T p.R4072I Missense 79/91 - 1
2-141092030-C-T c.12215G>A p.R4072K Missense 79/91 - 2
2-141092033-T-A c.12212A>T p.Q4071L Missense 79/91 - 2
2-141092034-G-A c.12211C>T p.Q4071* Nonsense 79/91 - 1
2-141092035-T-C c.12210A>G p.L4070= Synonymous 79/91 - 4
2-141092037-A-C c.12208T>G p.L4070V Missense 79/91 - 2
2-141092037-A-G c.12208T>C p.L4070= Synonymous 79/91 - 2
2-141092038-G-T c.12207C>A p.N4069K Missense 79/91 - 2
2-141092038-G-GT c.12206dup p.N4069Kfs*14 Frameshift 79/91 - 1
2-141092040-T-C c.12205A>G p.N4069D Missense 79/91 - 1
2-141092041-C-A c.12204G>T p.K4068N Missense 79/91 - 5
2-141092041-C-G c.12204G>C p.K4068N Missense 79/91 - 3
2-141092043-T-G c.12202A>C p.K4068Q Missense 79/91 - 1
2-141092045-T-C c.12200A>G p.Q4067R Missense 79/91 - 1
2-141092048-A-G c.12197T>C p.V4066A Missense 79/91 - 2
2-141092049-C-A c.12196G>T p.V4066L Missense 79/91 - 1
2-141092053-A-C c.12192T>G p.I4064M Missense 79/91 - 1
2-141092054-A-C c.12191T>G p.I4064S Missense 79/91 - 2
2-141092054-A-G c.12191T>C p.I4064T Missense 79/91 - 1
2-141092055-T-A c.12190A>T p.I4064F Missense 79/91 - 1
2-141092056-C-T c.12189G>A p.R4063= Synonymous 79/91 - 2
2-141092057-C-A c.12188G>T p.R4063M Missense 79/91 - 1
2-141092057-C-G c.12188G>C p.R4063T Missense 79/91 - 2
2-141092057-C-T c.12188G>A p.R4063K Missense 79/91 - 1
2-141092059-T-A c.12186A>T p.R4062S Missense 79/91 - 2
2-141092059-T-G c.12186A>C p.R4062S Missense 79/91 - 2
2-141092060-C-T c.12185G>A p.R4062K Missense 79/91 - 1
2-141092061-T-A c.12184A>T p.R4062* Nonsense 79/91 - 2
2-141092063-A-T c.12182T>A p.L4061Q Missense 79/91 - 2
2-141092069-C-A c.12176G>T p.G4059V Missense 79/91 - 3
2-141092073-C-T c.12172G>A p.D4058N Missense 79/91 - 10
2-141092072-TC-T c.12172del p.D4058Mfs*4 Frameshift 79/91 - 1
2-141092074-C-A c.12171G>T p.M4057I Missense 79/91 - 1
2-141092074-C-G c.12171G>C p.M4057I Missense 79/91 - 1
2-141092074-C-T c.12171G>A p.M4057I Missense 79/91 - 1
2-141092081-G-A c.12164C>T p.A4055V Missense 79/91 - 1
2-141092083-T-G c.12162A>C p.E4054D Missense 79/91 - 2
2-141092084-T-C c.12161A>G p.E4054G Missense 79/91 - 1
2-141092084-T-G c.12161A>C p.E4054A Missense 79/91 - 12
2-141092085-C-A c.12160G>T p.E4054* Nonsense 79/91 - 2
2-141092085-C-G c.12160G>C p.E4054Q Missense 79/91 - 1
2-141092085-C-T c.12160G>A p.E4054K Missense 79/91 - 1
2-141092088-C-T c.12157G>A p.E4053K Missense 79/91 - 1
2-141092093-T-C c.12152A>G p.H4051R Missense 79/91 - 1
2-141092095-G-A c.12150C>T p.S4050= Synonymous 79/91 - 1
2-141092100-G-A c.12145C>T p.H4049Y Missense 79/91 - 4
2-141092100-G-T c.12145C>A p.H4049N Missense 79/91 - 1
2-141092101-A-ACAAGTATATTACTGTTAACAGTTAT c.12143_12144insATAACTGTTAACAGTAATATACTTG p.D4048Efs*2 Frameshift 79/91 - 1
2-141092101-A-C c.12144T>G p.D4048E Missense 79/91 - 2
2-141092101-A-T c.12144T>A p.D4048E Missense 79/91 - 2
2-141092103-C-A c.12142G>T p.D4048Y Missense 79/91 - 1
2-141092105-C-T c.12140G>A p.G4047E Missense 79/91 - 1
2-141092106-C-A c.12139G>T p.G4047W Missense 79/91 - 2
2-141092106-C-T c.12139G>A p.G4047R Missense 79/91 - 1
2-141092109-C-A c.12136G>T p.V4046F Missense 79/91 - 1
2-141092116-C-A c.12129G>T p.W4043C Missense 79/91 - 2
2-141092116-C-G c.12129G>C p.W4043C Missense 79/91 - 1
2-141092116-C-T c.12129G>A p.W4043* Nonsense 79/91 - 2
2-141092117-C-A c.12128G>T p.W4043L Missense 79/91 - 1
2-141092117-C-T c.12128G>A p.W4043* Nonsense 79/91 - 1
2-141092120-T-TA c.12124dup p.Y4042Lfs*41 Frameshift 79/91 - 1
2-141092121-A-G c.12124T>C p.Y4042H Missense 79/91 - 1
2-141092122-C-A c.12123G>T p.M4041I Missense 79/91 - 4
2-141092122-C-G c.12123G>C p.M4041I Missense 79/91 - 2
2-141092122-C-T c.12123G>A p.M4041I Missense 79/91 - 2
2-141092125-C-A c.12120G>T p.M4040I Missense 79/91 - 1
2-141092125-C-G c.12120G>C p.M4040I Missense 79/91 - 2
2-141092125-C-T c.12120G>A p.M4040I Missense 79/91 - 3
2-141092126-A-G c.12119T>C p.M4040T Missense 79/91 - 1
2-141092127-T-A c.12118A>T p.M4040L Missense 79/91 - 1
2-141092127-T-G c.12118A>C p.M4040L Missense 79/91 - 1
2-141093182-A-C c.12116+2T>G - IntronicSNV - 78/90 1
2-141093184-C-G c.12116G>C p.G4039A Missense 78/91 - 2
2-141093184-C-T c.12116G>A p.G4039E Missense 78/91 - 3
2-141093185-C-A c.12115G>T p.G4039W Missense 78/91 - 4
2-141093186-T-A c.12114A>T p.R4038S Missense 78/91 - 2
2-141093187-C-A c.12113G>T p.R4038I Missense 78/91 - 1
2-141093187-C-G c.12113G>C p.R4038T Missense 78/91 - 3
2-141093187-C-T c.12113G>A p.R4038K Missense 78/91 - 1
2-141093188-T-A c.12112A>T p.R4038* Nonsense 78/91 - 2
2-141093193-G-A c.12107C>T p.P4036L Missense 78/91 - 2
2-141093194-G-A c.12106C>T p.P4036S Missense 78/91 - 9
2-141093196-T-C c.12104A>G p.N4035S Missense 78/91 - 2
2-141093197-T-C c.12103A>G p.N4035D Missense 78/91 - 4
2-141093198-T-C c.12102A>G p.V4034= Synonymous 78/91 - 1
2-141093199-A-G c.12101T>C p.V4034A Missense 78/91 - 1
2-141093199-A-T c.12101T>A p.V4034E Missense 78/91 - 1
2-141093200-C-A c.12100G>T p.V4034L Missense 78/91 - 1
2-141093201-T-A c.12099A>T p.A4033= Synonymous 78/91 - 2
2-141093203-C-A c.12097G>T p.A4033S Missense 78/91 - 1
2-141093205-A-G c.12095T>C p.I4032T Missense 78/91 - 1
2-141093207-A-T c.12093T>A p.A4031= Synonymous 78/91 - 1
2-141093208-G-A c.12092C>T p.A4031V Missense 78/91 - 1
2-141093208-G-T c.12092C>A p.A4031D Missense 78/91 - 1
2-141093209-C-T c.12091G>A p.A4031T Missense 78/91 - 1
2-141093212-A-G c.12088T>C p.Y4030H Missense 78/91 - 1
2-141093214-G-A c.12086C>T p.P4029L Missense 78/91 - 3
2-141093214-G-T c.12086C>A p.P4029H Missense 78/91 - 1
2-141093215-G-A c.12085C>T p.P4029S Missense 78/91 - 1
2-141093215-G-T c.12085C>A p.P4029T Missense 78/91 - 1
2-141093217-T-C c.12083A>G p.E4028G Missense 78/91 - 2
2-141093218-C-A c.12082G>T p.E4028* Nonsense 78/91 - 1
2-141093219-T-A c.12081A>T p.G4027= Synonymous 78/91 - 1
2-141093219-T-C c.12081A>G p.G4027= Synonymous 78/91 - 1
2-141093219-T-G c.12081A>C p.G4027= Synonymous 78/91 - 1
2-141093220-C-A c.12080G>T p.G4027V Missense 78/91 - 3
2-141093221-C-A c.12079G>T p.G4027* Nonsense 78/91 - 2
2-141093223-G-C c.12077C>G p.A4026G Missense 78/91 - 1
2-141093224-C-A c.12076G>T p.A4026S Missense 78/91 - 1
2-141093224-C-T c.12076G>A p.A4026T Missense 78/91 - 4
2-141093226-A-G c.12074T>C p.M4025T Missense 78/91 - 1
2-141093236-A-T c.12064T>A p.L4022I Missense 78/91 - 1
2-141093238-A-G c.12062T>C p.L4021P Missense 78/91 - 3
2-141093238-A-T c.12062T>A p.L4021H Missense 78/91 - 2
2-141093239-G-A c.12061C>T p.L4021F Missense 78/91 - 2
2-141093239-G-T c.12061C>A p.L4021I Missense 78/91 - 2
2-141093240-T-A c.12060A>T p.R4020S Missense 78/91 - 1
2-141093241-C-G c.12059G>C p.R4020T Missense 78/91 - 1
2-141093241-C-T c.12059G>A p.R4020K Missense 78/91 - 2
2-141093243-G-T c.12057C>A p.T4019= Synonymous 78/91 - 2
2-141093245-T-C c.12055A>G p.T4019A Missense 78/91 - 1
2-141093246-G-T c.12054C>A p.C4018* Nonsense 78/91 - 1
2-141093247-C-G c.12053G>C p.C4018S Missense 78/91 - 1
2-141093248-A-G c.12052T>C p.C4018R Missense 78/91 - 2
2-141093248-A-T c.12052T>A p.C4018S Missense 78/91 - 4
2-141093249-G-C c.12051C>G p.N4017K Missense 78/91 - 2
2-141093249-G-T c.12051C>A p.N4017K Missense 78/91 - 4
2-141093250-T-C c.12050A>G p.N4017S Missense 78/91 - 1
2-141093253-G-A c.12047C>T p.P4016L Missense 78/91 - 9
2-141093256-C-A c.12044G>T p.G4015V Missense 78/91 - 2
2-141093256-C-G c.12044G>C p.G4015A Missense 78/91 - 1
2-141093256-C-T c.12044G>A p.G4015D Missense 78/91 - 5
2-141093257-C-T c.12043G>A p.G4015S Missense 78/91 - 2
2-141093258-A-C c.12042T>G p.N4014K Missense 78/91 - 1
2-141093259-T-C c.12041A>G p.N4014S Missense 78/91 - 1
2-141093263-G-T c.12037C>A p.L4013M Missense 78/91 - 3
2-141093268-C-A c.12032G>T p.G4011V Missense 78/91 - 1
2-141093268-C-T c.12032G>A p.G4011E Missense 78/91 - 2
2-141093269-C-A c.12031G>T p.G4011W Missense 78/91 - 1
2-141093270-T-C c.12030A>G p.V4010= Synonymous 78/91 - 2
2-141093272-C-A c.12028G>T p.V4010L Missense 78/91 - 1
2-141093272-C-G c.12028G>C p.V4010L Missense 78/91 - 1
2-141093272-C-T c.12028G>A p.V4010I Missense 78/91 - 7
2-141093275-T-C c.12025A>G p.N4009D Missense 78/91 - 1
2-141093280-GA-CG c.12019_12020delinsCG p.S4007R Missense 78/91 - 1
2-141093280-G-C c.12020C>G p.S4007C Missense 78/91 - 2
2-141093280-G-T c.12020C>A p.S4007Y Missense 78/91 - 5
2-141093286-C-T c.12014G>A p.R4005K Missense 78/91 - 1
2-141093288-C-A c.12012G>T p.L4004= Synonymous 78/91 - 2
2-141093288-C-G c.12012G>C p.L4004= Synonymous 78/91 - 2
2-141093288-C-T c.12012G>A p.L4004= Synonymous 78/91 - 3
2-141093290-G-A c.12010C>T p.L4004= Synonymous 78/91 - 4
2-141093289-A-C c.12011T>G p.L4004R Missense 78/91 - 1
2-141093290-G-C c.12010C>G p.L4004V Missense 78/91 - 1
2-141093291-A-C c.12009T>G p.S4003R Missense 78/91 - 1
2-141093292-C-A c.12008G>T p.S4003I Missense 78/91 - 1
2-141093295-G-T c.12005C>A p.T4002N Missense 78/91 - 2
2-141093296-T-C c.12004A>G p.T4002A Missense 78/91 - 1
2-141093297-C-A c.12003G>T p.W4001C Missense 78/91 - 2
2-141093297-C-G c.12003G>C p.W4001C Missense 78/91 - 1
2-141093298-C-A c.12002G>T p.W4001L Missense 78/91 - 2
2-141093299-A-G c.12001T>C p.W4001R Missense 78/91 - 1
2-141093299-A-T c.12001T>A p.W4001R Missense 78/91 - 2
2-141093301-T-C c.11999A>G p.H4000R Missense 78/91 - 1
2-141093302-G-T c.11998C>A p.H4000N Missense 78/91 - 6
2-141093306-A-C c.11994T>G p.T3998= Synonymous 78/91 - 1
2-141093306-A-T c.11994T>A p.T3998= Synonymous 78/91 - 2
2-141093316-C-A c.11984G>T p.S3995I Missense 78/91 - 2
2-141093318-G-T c.11982C>A p.F3994L Missense 78/91 - 2
2-141093318-G-C c.11982C>G p.F3994L Missense 78/91 - 1
2-141093320-A-G c.11980T>C p.F3994L Missense 78/91 - 1
2-141093321-C-A c.11979G>T p.W3993C Missense 78/91 - 1
2-141093321-C-G c.11979G>C p.W3993C Missense 78/91 - 1
2-141093322-C-G c.11978G>C p.W3993S Missense 78/91 - 1
2-141093327-C-A c.11973G>T p.M3991I Missense 78/91 - 2
2-141093327-C-G c.11973G>C p.M3991I Missense 78/91 - 1
2-141093327-C-T c.11973G>A p.M3991I Missense 78/91 - 1
2-141093327-GC-G c.11973del p.M3991Ifs*14 Frameshift 78/91 - 1
2-141093331-C-A c.11969G>T p.R3990I Missense 78/91 - 1
2-141093331-C-G c.11969G>C p.R3990T Missense 78/91 - 3
2-141093334-G-A c.11966C>T p.S3989F Missense 78/91 - 9
2-141093336-A-G c.11964T>C p.H3988= Synonymous 78/91 - 1
2-141093337-T-A c.11963A>T p.H3988L Missense 78/91 - 1
2-141093338-G-A c.11962C>T p.H3988Y Missense 78/91 - 6
2-141093338-G-T c.11962C>A p.H3988N Missense 78/91 - 2
2-141093341-C-A c.11959G>T p.D3987Y Missense 78/91 - 6
2-141093341-C-T c.11959G>A p.D3987N Missense 78/91 - 2
2-141093343-AG-A c.11957del p.T3986Mfs*19 Frameshift 78/91 - 1
2-141093343-G-A c.11957C>T p.T3986I Missense 78/91 - 2
2-141093343-G-T c.11957C>A p.T3986N Missense 78/91 - 4
2-141093345-C-T c.11955G>A p.W3985* Nonsense 78/91 - 2
2-141093346-C-G c.11954G>C p.W3985S Missense 78/91 - 1
2-141093346-C-T c.11954G>A p.W3985* Nonsense 78/91 - 4
2-141093354-G-C c.11946C>G p.N3982K Missense 78/91 - 2
2-141093354-G-T c.11946C>A p.N3982K Missense 78/91 - 4
2-141093358-C-T c.11942G>A p.G3981E Missense 78/91 - 4
2-141093359-C-A c.11941G>T p.G3981* Nonsense 78/91 - 1
2-141093362-C-T c.11938G>A p.A3980T Missense 78/91 - 1
2-141093364-A-C c.11936T>G p.V3979G Missense 78/91 - 1
2-141093365-C-T c.11935G>A p.V3979M Missense 78/91 - 1
2-141093364-A-AC c.11935dup p.V3979Gfs*9 Frameshift 78/91 - 1
2-141093369-G-C c.11931C>G p.D3977E Missense 78/91 - 2
2-141093369-G-T c.11931C>A p.D3977E Missense 78/91 - 2
2-141093371-C-A c.11929G>T p.D3977Y Missense 78/91 - 4
2-141093377-C-G c.11923G>C p.A3975P Missense 78/91 - 1
2-141093377-C-T c.11923G>A p.A3975T Missense 78/91 - 1
2-141093378-A-G c.11922T>C p.I3974= Synonymous 78/91 - 1
2-141093381-G-T c.11919C>A p.D3973E Missense 78/91 - 2
2-141093382-T-C c.11918A>G p.D3973G Missense 78/91 - 1
2-141093383-C-A c.11917G>T p.D3973Y Missense 78/91 - 1
2-141093383-C-G c.11917G>C p.D3973H Missense 78/91 - 2
2-141093383-C-T c.11917G>A p.D3973N Missense 78/91 - 1
2-141093384-C-A c.11916G>T p.R3972S Missense 78/91 - 5
2-141093384-C-G c.11916G>C p.R3972S Missense 78/91 - 1
2-141093385-C-T c.11915G>A p.R3972K Missense 78/91 - 4
2-141093386-T-C c.11914A>G p.R3972G Missense 78/91 - 1
2-141093387-G-A c.11913C>T p.P3971= Synonymous 78/91 - 1
2-141093388-G-T c.11912C>A p.P3971H Missense 78/91 - 2
2-141093391-C-G c.11909G>C p.R3970T Missense 78/91 - 2
2-141093391-C-T c.11909G>A p.R3970K Missense 78/91 - 2
2-141093392-T-C c.11908A>G p.R3970G Missense 78/91 - 1
2-141093391-C-CT c.11908dup p.R3970Kfs*8 Frameshift 78/91 - 1
2-141093397-A-G c.11903T>C p.F3968S Missense 78/91 - 1
2-141093397-A-T c.11903T>A p.F3968Y Missense 78/91 - 1
2-141093401-C-A c.11899G>T p.E3967* Nonsense 78/91 - 2
2-141093401-C-G c.11899G>C p.E3967Q Missense 78/91 - 3
2-141093403-G-A c.11897C>T p.P3966L Missense 78/91 - 3
2-141093405-A-G c.11895T>C p.C3965= Synonymous 78/91 - 4
2-141093406-C-T c.11894G>A p.C3965Y Missense 78/91 - 1
2-141095638-A-G c.11893-2231T>C - IntronicSNV - 77/90 1
2-141098234-A-T c.11893-4827T>A - IntronicSNV - 77/90 1
2-141103450-A-T c.11892+4916T>A - IntronicSNV - 77/90 1
2-141105877-A-G c.11892+2489T>C - IntronicSNV - 77/90 1
2-141108314-A-AG c.11892+51dup - IntronicInsertion - 77/90 1
2-141108316-C-A c.11892+50G>T - IntronicSNV - 77/90 1
2-141108351-A-G c.11892+15T>C - IntronicSNV - 77/90 1
2-141108362-T-A c.11892+4A>T - IntronicSNV - 77/90 1
2-141108367-A-G c.11891T>C p.I3964T Missense 77/91 - 1
2-141108369-C-T c.11889G>A p.L3963= Synonymous 77/91 - 2
2-141108372-G-A c.11886C>T p.G3962= Synonymous 77/91 - 1
2-141108373-C-A c.11885G>T p.G3962V Missense 77/91 - 1
2-141108374-C-A c.11884G>T p.G3962C Missense 77/91 - 1
2-141108376-C-A c.11882G>T p.S3961I Missense 77/91 - 3
2-141108378-G-T c.11880C>A p.N3960K Missense 77/91 - 1
2-141108382-G-T c.11876C>A p.A3959E Missense 77/91 - 2
2-141108387-C-A c.11871G>T p.R3957S Missense 77/91 - 1
2-141108387-C-G c.11871G>C p.R3957S Missense 77/91 - 1
2-141108390-T-C c.11868A>G p.K3956= Synonymous 77/91 - 2
2-141108392-T-A c.11866A>T p.K3956* Nonsense 77/91 - 1
2-141108392-T-C c.11866A>G p.K3956E Missense 77/91 - 3
2-141108388-C-CT c.11869dup p.R3957Kfs*11 Frameshift 77/91 - 5
2-141108388-CT-C c.11869del p.R3957Gfs*7 Frameshift 77/91 - 1
2-141108395-C-A c.11863G>T p.E3955* Nonsense 77/91 - 2
2-141108395-C-G c.11863G>C p.E3955Q Missense 77/91 - 1
2-141108395-C-T c.11863G>A p.E3955K Missense 77/91 - 1
2-141108396-T-A c.11862A>T p.R3954S Missense 77/91 - 1
2-141108396-T-G c.11862A>C p.R3954S Missense 77/91 - 1
2-141108397-C-T c.11861G>A p.R3954K Missense 77/91 - 1
2-141108399-G-A c.11859C>T p.G3953= Synonymous 77/91 - 4
2-141108399-G-C c.11859C>G p.G3953= Synonymous 77/91 - 3
2-141108399-G-T c.11859C>A p.G3953= Synonymous 77/91 - 3
2-141108400-C-T c.11858G>A p.G3953D Missense 77/91 - 1
2-141108401-C-A c.11857G>T p.G3953C Missense 77/91 - 4
2-141108403-T-C c.11855A>G p.H3952R Missense 77/91 - 1
2-141108403-T-G c.11855A>C p.H3952P Missense 77/91 - 1
2-141108405-G-A c.11853C>T p.I3951= Synonymous 77/91 - 3
2-141108408-C-A c.11850G>T p.R3950S Missense 77/91 - 3
2-141108408-C-G c.11850G>C p.R3950S Missense 77/91 - 2
2-141108408-C-T c.11850G>A p.R3950= Synonymous 77/91 - 3
2-141108409-C-A c.11849G>T p.R3950M Missense 77/91 - 7
2-141108409-C-T c.11849G>A p.R3950K Missense 77/91 - 4
2-141108410-T-A c.11848A>T p.R3950W Missense 77/91 - 1
2-141108413-T-A c.11845A>T p.K3949* Nonsense 77/91 - 2
2-141108413-T-C c.11845A>G p.K3949E Missense 77/91 - 3
2-141108417-G-A c.11841C>T p.F3947= Synonymous 77/91 - 1
2-141108422-T-C c.11836A>G p.I3946V Missense 77/91 - 4
2-141108424-C-A c.11834G>T p.G3945V Missense 77/91 - 4
2-141108424-CC-TT c.11833_11834delinsAA p.G3945K Missense 77/91 - 2
2-141108424-C-T c.11834G>A p.G3945E Missense 77/91 - 10
2-141108425-C-A c.11833G>T p.G3945* Nonsense 77/91 - 1
2-141108425-C-G c.11833G>C p.G3945R Missense 77/91 - 2
2-141108425-C-T c.11833G>A p.G3945R Missense 77/91 - 9
2-141108426-G-A c.11832C>T p.G3944= Synonymous 77/91 - 2
2-141108426-G-C c.11832C>G p.G3944= Synonymous 77/91 - 1
2-141108426-G-T c.11832C>A p.G3944= Synonymous 77/91 - 3
2-141108427-C-A c.11831G>T p.G3944V Missense 77/91 - 2
2-141108427-C-T c.11831G>A p.G3944D Missense 77/91 - 1
2-141108428-C-A c.11830G>T p.G3944C Missense 77/91 - 3
2-141108428-C-T c.11830G>A p.G3944S Missense 77/91 - 3
2-141108430-G-A c.11828C>T p.P3943L Missense 77/91 - 1
2-141108430-G-T c.11828C>A p.P3943Q Missense 77/91 - 2
2-141108431-G-T c.11827C>A p.P3943T Missense 77/91 - 2
2-141108435-A-C c.11823T>G p.F3941L Missense 77/91 - 1
2-141108435-A-T c.11823T>A p.F3941L Missense 77/91 - 1
2-141108437-A-G c.11821T>C p.F3941L Missense 77/91 - 1
2-141108440-G-A c.11818C>T p.Q3940* Nonsense 77/91 - 2
2-141108442-G-C c.11816C>G p.T3939S Missense 77/91 - 2
2-141108444-A-C c.11814T>G p.S3938R Missense 77/91 - 1
2-141108444-A-G c.11814T>C p.S3938= Synonymous 77/91 - 1
2-141108445-C-T c.11813G>A p.S3938N Missense 77/91 - 2
2-141108447-C-A c.11811G>T p.W3937C Missense 77/91 - 1
2-141108447-C-G c.11811G>C p.W3937C Missense 77/91 - 2
2-141108448-C-G c.11810G>C p.W3937S Missense 77/91 - 2
2-141108451-A-G c.11807T>C p.I3936T Missense 77/91 - 1
2-141108454-A-T c.11804T>A p.I3935N Missense 77/91 - 1
2-141108456-C-A c.11802G>T p.M3934I Missense 77/91 - 2
2-141108456-C-G c.11802G>C p.M3934I Missense 77/91 - 2
2-141108456-C-T c.11802G>A p.M3934I Missense 77/91 - 5
2-141108458-T-C c.11800A>G p.M3934V Missense 77/91 - 2
2-141108461-C-A c.11797G>T p.D3933Y Missense 77/91 - 10
2-141108463-C-A c.11795G>T p.R3932I Missense 77/91 - 2
2-141108467-G-A c.11791C>T p.Q3931* Nonsense 77/91 - 3
2-141108467-G-C c.11791C>G p.Q3931E Missense 77/91 - 4
2-141108467-G-T c.11791C>A p.Q3931K Missense 77/91 - 1
2-141108469-T-G c.11789A>C p.Y3930S Missense 77/91 - 1
2-141108471-A-C c.11787T>G p.Y3929* Nonsense 77/91 - 1
2-141108471-A-T c.11787T>A p.Y3929* Nonsense 77/91 - 1
2-141108472-T-A c.11786A>T p.Y3929F Missense 77/91 - 1
2-141108476-C-G c.11782G>C p.V3928L Missense 77/91 - 1
2-141108478-T-A c.11780A>T p.D3927V Missense 77/91 - 1
2-141108479-C-A c.11779G>T p.D3927Y Missense 77/91 - 4
2-141108480-C-A c.11778G>T p.M3926I Missense 77/91 - 3
2-141108480-C-G c.11778G>C p.M3926I Missense 77/91 - 1
2-141108480-C-T c.11778G>A p.M3926I Missense 77/91 - 1
2-141108482-T-A c.11776A>T p.M3926L Missense 77/91 - 3
2-141108483-C-T c.11775G>A p.G3925= Synonymous 77/91 - 1
2-141108484-C-A c.11774G>T p.G3925V Missense 77/91 - 5
2-141108484-C-T c.11774G>A p.G3925E Missense 77/91 - 4
2-141108482-TC-T c.11775del p.M3926Wfs*9 Frameshift 77/91 - 1
2-141108485-C-A c.11773G>T p.G3925W Missense 77/91 - 5
2-141108488-T-C c.11770A>G p.T3924A Missense 77/91 - 2
2-141108492-T-C c.11766A>G p.R3922= Synonymous 77/91 - 1
2-141108494-T-G c.11764A>C p.R3922= Synonymous 77/91 - 3
2-141108493-C-A c.11765G>T p.R3922I Missense 77/91 - 6
2-141108493-C-T c.11765G>A p.R3922K Missense 77/91 - 2
2-141108494-T-C c.11764A>G p.R3922G Missense 77/91 - 1
2-141108496-G-A c.11762C>T p.S3921L Missense 77/91 - 4
2-141108496-G-C c.11762C>G p.S3921* Nonsense 77/91 - 1
2-141108496-G-T c.11762C>A p.S3921* Nonsense 77/91 - 1
2-141108498-A-C c.11760T>G p.N3920K Missense 77/91 - 1
2-141108498-A-T c.11760T>A p.N3920K Missense 77/91 - 2
2-141108501-A-C c.11757T>G p.H3919Q Missense 77/91 - 1
2-141108501-A-T c.11757T>A p.H3919Q Missense 77/91 - 1
2-141108503-G-A c.11755C>T p.H3919Y Missense 77/91 - 1
2-141108504-T-A c.11754A>T p.E3918D Missense 77/91 - 4
2-141108504-T-C c.11754A>G p.E3918= Synonymous 77/91 - 1
2-141108504-T-G c.11754A>C p.E3918D Missense 77/91 - 2
2-141108506-C-T c.11752G>A p.E3918K Missense 77/91 - 3
2-141108510-A-G c.11748T>C p.H3916= Synonymous 77/91 - 1
2-141108512-G-A c.11746C>T p.H3916Y Missense 77/91 - 1
2-141108514-G-T c.11744C>A p.S3915Y Missense 77/91 - 5
2-141108521-G-A c.11737C>T p.Q3913* Nonsense 77/91 - 1
2-141108521-G-T c.11737C>A p.Q3913K Missense 77/91 - 1
2-141108524-G-A c.11734C>T p.Q3912* Nonsense 77/91 - 2
2-141108527-G-A c.11731C>T p.H3911Y Missense 77/91 - 1
2-141108527-G-C c.11731C>G p.H3911D Missense 77/91 - 2
2-141108527-G-T c.11731C>A p.H3911N Missense 77/91 - 1
2-141108530-C-A c.11728G>T p.D3910Y Missense 77/91 - 2
2-141108530-C-T c.11728G>A p.D3910N Missense 77/91 - 1
2-141108531-G-A c.11727C>T p.G3909= Synonymous 77/91 - 2
2-141108532-C-T c.11726G>A p.G3909D Missense 77/91 - 1
2-141108531-GC-G c.11726del p.G3909Afs*15 Frameshift 77/91 - 1
2-141108533-C-T c.11725G>A p.G3909S Missense 77/91 - 1
2-141108534-A-C c.11724T>G p.S3908R Missense 77/91 - 2
2-141108534-A-T c.11724T>A p.S3908R Missense 77/91 - 1
2-141108536-T-G c.11722A>C p.S3908R Missense 77/91 - 1
2-141108535-C-A c.11723G>T p.S3908I Missense 77/91 - 3
2-141108536-T-A c.11722A>T p.S3908C Missense 77/91 - 1
2-141108539-A-G c.11719T>C p.Y3907H Missense 77/91 - 1
2-141108540-G-A c.11718C>T p.N3906= Synonymous 77/91 - 3
2-141108540-GT-CC c.11717_11718delinsGG p.N3906R Missense 77/91 - 1
2-141108543-G-C c.11715C>G p.F3905L Missense 77/91 - 2
2-141108543-G-T c.11715C>A p.F3905L Missense 77/91 - 3
2-141108545-A-G c.11713T>C p.F3905L Missense 77/91 - 1
2-141108547-G-A c.11711C>T p.P3904L Missense 77/91 - 3
2-141108547-G-T c.11711C>A p.P3904Q Missense 77/91 - 7
2-141108548-G-A c.11710C>T p.P3904S Missense 77/91 - 1
2-141108548-G-C c.11710C>G p.P3904A Missense 77/91 - 3
2-141108548-G-T c.11710C>A p.P3904T Missense 77/91 - 1
2-141108549-A-C c.11709T>G p.Y3903* Nonsense 77/91 - 1
2-141108551-A-G c.11707T>C p.Y3903H Missense 77/91 - 1
2-141108558-A-T c.11700T>A p.G3900= Synonymous 77/91 - 2
2-141108559-CC-AT c.11698_11699delinsAT p.G3900I Missense 77/91 - 1
2-141108560-C-A c.11698G>T p.G3900C Missense 77/91 - 2
2-141108564-G-A c.11694C>T p.I3898= Synonymous 77/91 - 2
2-141108564-G-C c.11694C>G p.I3898M Missense 77/91 - 1
2-141108566-T-A c.11692A>T p.I3898F Missense 77/91 - 4
2-141108566-T-C c.11692A>G p.I3898V Missense 77/91 - 1
2-141108568-T-C c.11690A>G p.D3897G Missense 77/91 - 1
2-141108573-G-T c.11685C>A p.D3895E Missense 77/91 - 1
2-141108575-C-T c.11683G>A p.D3895N Missense 77/91 - 1
2-141108578-T-A c.11680A>T p.N3894Y Missense 77/91 - 2
2-141108578-T-C c.11680A>G p.N3894D Missense 77/91 - 1
2-141108580-G-T c.11678C>A p.A3893D Missense 77/91 - 4
2-141108583-A-G c.11675T>C p.I3892T Missense 77/91 - 6
2-141108590-G-A c.11668C>T p.L3890F Missense 77/91 - 1
2-141108593-C-T c.11665G>A p.V3889I Missense 77/91 - 4
2-141108594-T-C c.11664A>G p.Q3888= Synonymous 77/91 - 1
2-141108596-G-C c.11662C>G p.Q3888E Missense 77/91 - 1
2-141108599-C-G c.11659G>C p.D3887H Missense 77/91 - 4
2-141108600-T-G c.11658A>C p.E3886D Missense 77/91 - 1
2-141108604-G-A c.11654C>T p.S3885F Missense 77/91 - 2
2-141108604-GA-AG c.11653_11654delinsCT p.S3885L Missense 77/91 - 1
2-141108606-G-A c.11652C>T p.G3884= Synonymous 77/91 - 2
2-141108607-C-A c.11651G>T p.G3884V Missense 77/91 - 1
2-141108607-C-G c.11651G>C p.G3884A Missense 77/91 - 1
2-141108607-C-T c.11651G>A p.G3884D Missense 77/91 - 1
2-141110440-G-A c.11650+82C>T - IntronicSNV - 76/90 1
2-141110525-C-A c.11647G>T p.E3883* Nonsense 76/91 - 1
2-141110525-C-G c.11647G>C p.E3883Q Missense 76/91 - 1
2-141110525-C-T c.11647G>A p.E3883K Missense 76/91 - 2
2-141110526-T-A c.11646A>T p.A3882= Synonymous 76/91 - 1
2-141110526-T-C c.11646A>G p.A3882= Synonymous 76/91 - 1
2-141110526-T-G c.11646A>C p.A3882= Synonymous 76/91 - 1
2-141110527-G-A c.11645C>T p.A3882V Missense 76/91 - 1
2-141110527-G-T c.11645C>A p.A3882E Missense 76/91 - 5
2-141110533-C-A c.11639G>T p.C3880F Missense 76/91 - 1
2-141110534-A-C c.11638T>G p.C3880G Missense 76/91 - 1
2-141110535-G-A c.11637C>T p.T3879= Synonymous 76/91 - 5
2-141110535-G-C c.11637C>G p.T3879= Synonymous 76/91 - 2
2-141110535-G-T c.11637C>A p.T3879= Synonymous 76/91 - 2
2-141110536-G-A c.11636C>T p.T3879I Missense 76/91 - 1
2-141110536-G-T c.11636C>A p.T3879N Missense 76/91 - 1
2-141110539-T-C c.11633A>G p.N3878S Missense 76/91 - 1
2-141110538-GT-G c.11633del p.N3878Tfs*4 Frameshift 76/91 - 2
2-141110540-T-C c.11632A>G p.N3878D Missense 76/91 - 1
2-141110541-A-T c.11631T>A p.N3877K Missense 76/91 - 1
2-141110543-T-TA c.11628_11629insT p.N3877* Nonsense 76/91 - 1
2-141110544-T-C c.11628A>G p.R3876= Synonymous 76/91 - 1
2-141110545-C-A c.11627G>T p.R3876I Missense 76/91 - 3
2-141110545-C-G c.11627G>C p.R3876T Missense 76/91 - 1
2-141110546-T-C c.11626A>G p.R3876G Missense 76/91 - 1
2-141110546-T-G c.11626A>C p.R3876= Synonymous 76/91 - 2
2-141110548-T-C c.11624A>G p.E3875G Missense 76/91 - 1
2-141110548-T-G c.11624A>C p.E3875A Missense 76/91 - 1
2-141110549-C-A c.11623G>T p.E3875* Nonsense 76/91 - 4
2-141110549-C-G c.11623G>C p.E3875Q Missense 76/91 - 1
2-141110550-T-C c.11622A>G p.Q3874= Synonymous 76/91 - 1
2-141110550-T-G c.11622A>C p.Q3874H Missense 76/91 - 1
2-141110552-G-A c.11620C>T p.Q3874* Nonsense 76/91 - 11
2-141110554-A-C c.11618T>G p.F3873C Missense 76/91 - 1
2-141110553-A-C c.11619T>G p.F3873L Missense 76/91 - 1
2-141110553-A-T c.11619T>A p.F3873L Missense 76/91 - 1
2-141110555-A-G c.11617T>C p.F3873L Missense 76/91 - 1
2-141110555-A-T c.11617T>A p.F3873I Missense 76/91 - 1
2-141110556-A-C c.11616T>G p.N3872K Missense 76/91 - 1
2-141110556-A-G c.11616T>C p.N3872= Synonymous 76/91 - 1
2-141110556-A-T c.11616T>A p.N3872K Missense 76/91 - 1
2-141110557-T-A c.11615A>T p.N3872I Missense 76/91 - 1
2-141110558-T-G c.11614A>C p.N3872H Missense 76/91 - 3
2-141110559-C-A c.11613G>T p.Q3871H Missense 76/91 - 1
2-141110559-C-G c.11613G>C p.Q3871H Missense 76/91 - 1
2-141110564-C-A c.11608G>T p.D3870Y Missense 76/91 - 1
2-141110564-C-T c.11608G>A p.D3870N Missense 76/91 - 5
2-141110565-A-C c.11607T>G p.C3869W Missense 76/91 - 1
2-141110566-C-T c.11606G>A p.C3869Y Missense 76/91 - 1
2-141110567-A-G c.11605T>C p.C3869R Missense 76/91 - 2
2-141110568-C-A c.11604G>T p.V3868= Synonymous 76/91 - 1
2-141110568-C-G c.11604G>C p.V3868= Synonymous 76/91 - 1
2-141110568-C-T c.11604G>A p.V3868= Synonymous 76/91 - 1
2-141110570-C-A c.11602G>T p.V3868L Missense 76/91 - 3
2-141110570-C-T c.11602G>A p.V3868M Missense 76/91 - 1
2-141110572-C-T c.11600G>A p.C3867Y Missense 76/91 - 3
2-141110575-T-A c.11597A>T p.K3866I Missense 76/91 - 1
2-141110581-G-A c.11591C>T p.S3864L Missense 76/91 - 9
2-141110581-G-C c.11591C>G p.S3864* Nonsense 76/91 - 2
2-141110581-G-T c.11591C>A p.S3864* Nonsense 76/91 - 2
2-141110584-C-A c.11588G>T p.G3863V Missense 76/91 - 3
2-141110584-C-G c.11588G>C p.G3863A Missense 76/91 - 4
2-141110584-C-T c.11588G>A p.G3863E Missense 76/91 - 2
2-141110585-C-A c.11587G>T p.G3863* Nonsense 76/91 - 2
2-141110585-C-G c.11587G>C p.G3863R Missense 76/91 - 1
2-141110585-C-T c.11587G>A p.G3863R Missense 76/91 - 4
2-141110588-C-A c.11584G>T p.E3862* Nonsense 76/91 - 1
2-141110589-C-A c.11583G>T p.V3861= Synonymous 76/91 - 1
2-141110589-C-T c.11583G>A p.V3861= Synonymous 76/91 - 1
2-141110592-A-C c.11580T>G p.N3860K Missense 76/91 - 1
2-141110592-A-T c.11580T>A p.N3860K Missense 76/91 - 1
2-141110593-T-A c.11579A>T p.N3860I Missense 76/91 - 2
2-141110599-C-A c.11573G>T p.C3858F Missense 76/91 - 2
2-141110599-C-T c.11573G>A p.C3858Y Missense 76/91 - 2
2-141110601-T-A c.11571A>T p.Q3857H Missense 76/91 - 1
2-141110605-T-A c.11567A>T p.H3856L Missense 76/91 - 2
2-141110606-G-A c.11566C>T p.H3856Y Missense 76/91 - 4
2-141110608-G-A c.11564C>T p.S3855F Missense 76/91 - 4
2-141110608-G-T c.11564C>A p.S3855Y Missense 76/91 - 2
2-141110611-C-A c.11561G>T p.C3854F Missense 76/91 - 1
2-141110614-G-A c.11558C>T p.T3853I Missense 76/91 - 2
2-141110614-G-T c.11558C>A p.T3853K Missense 76/91 - 2
2-141110617-C-A c.11555G>T p.G3852V Missense 76/91 - 1
2-141110618-C-A c.11554G>T p.G3852C Missense 76/91 - 1
2-141110618-C-G c.11554G>C p.G3852R Missense 76/91 - 2
2-141110619-A-C c.11553T>G p.F3851L Missense 76/91 - 1
2-141110619-A-T c.11553T>A p.F3851L Missense 76/91 - 1
2-141110621-A-G c.11551T>C p.F3851L Missense 76/91 - 1
2-141110623-A-G c.11549T>C p.V3850A Missense 76/91 - 3
2-141110624-C-A c.11548G>T p.V3850L Missense 76/91 - 2
2-141110624-C-G c.11548G>C p.V3850L Missense 76/91 - 2
2-141110624-C-T c.11548G>A p.V3850M Missense 76/91 - 1
2-141110625-C-A c.11547G>T p.L3849F Missense 76/91 - 1
2-141110629-C-T c.11543G>A p.C3848Y Missense 76/91 - 1
2-141110630-A-T c.11542T>A p.C3848S Missense 76/91 - 1
2-141110633-C-T c.11539G>A p.E3847K Missense 76/91 - 5
2-141110639-G-A c.11533C>T p.L3845F Missense 76/91 - 1
2-141110640-G-T c.11532C>A p.D3844E Missense 76/91 - 1
2-141110641-T-C c.11531A>G p.D3844G Missense 76/91 - 4
2-141110677-C-A c.11531-36G>T - IntronicSNV - 75/90 2
2-141110704-C-T c.11531-63G>A - IntronicSNV - 75/90 1
2-141113739-C-CACAA c.11530+168_11530+171dup - IntronicInsertion - 75/90 1
2-141113798-G-A c.11530+113C>T - IntronicSNV - 75/90 2
2-141113911-C-A c.11530G>T p.D3844Y Missense 75/91 - 2
2-141113911-C-T c.11530G>A p.D3844N Missense 75/91 - 2
2-141113914-C-T c.11527G>A p.E3843K Missense 75/91 - 1
2-141113915-A-G c.11526T>C p.C3842= Synonymous 75/91 - 2
2-141113916-C-T c.11525G>A p.C3842Y Missense 75/91 - 2
2-141113917-A-G c.11524T>C p.C3842R Missense 75/91 - 2
2-141113922-C-G c.11519G>C p.R3840T Missense 75/91 - 1
2-141113924-G-A c.11517C>T p.N3839= Synonymous 75/91 - 1
2-141113924-G-C c.11517C>G p.N3839K Missense 75/91 - 6
2-141113924-G-T c.11517C>A p.N3839K Missense 75/91 - 8
2-141113925-T-A c.11516A>T p.N3839I Missense 75/91 - 1
2-141113925-T-C c.11516A>G p.N3839S Missense 75/91 - 2
2-141113927-T-A c.11514A>T p.K3838N Missense 75/91 - 1
2-141113927-T-G c.11514A>C p.K3838N Missense 75/91 - 1
2-141113924-GT-G c.11516del p.N3839Tfs*21 Frameshift 75/91 - 1
2-141113930-C-A c.11511G>T p.M3837I Missense 75/91 - 7
2-141113930-C-G c.11511G>C p.M3837I Missense 75/91 - 7
2-141113930-C-T c.11511G>A p.M3837I Missense 75/91 - 13
2-141113934-T-G c.11507A>C p.N3836T Missense 75/91 - 1
2-141113936-T-G c.11505A>C p.R3835S Missense 75/91 - 1
2-141113937-C-A c.11504G>T p.R3835I Missense 75/91 - 2
2-141113939-C-T c.11502G>A p.Q3834= Synonymous 75/91 - 1
2-141113940-T-A c.11501A>T p.Q3834L Missense 75/91 - 2
2-141113941-G-A c.11500C>T p.Q3834* Nonsense 75/91 - 2
2-141113941-G-T c.11500C>A p.Q3834K Missense 75/91 - 1
2-141113942-A-G c.11499T>C p.F3833= Synonymous 75/91 - 2
2-141113943-A-C c.11498T>G p.F3833C Missense 75/91 - 1
2-141113947-C-T c.11494G>A p.G3832R Missense 75/91 - 1
2-141113949-G-T c.11492C>A p.P3831H Missense 75/91 - 1
2-141113950-G-A c.11491C>T p.P3831S Missense 75/91 - 1
2-141113954-A-G c.11487T>C p.C3829= Synonymous 75/91 - 1
2-141113955-C-A c.11486G>T p.C3829F Missense 75/91 - 6
2-141113956-A-G c.11485T>C p.C3829R Missense 75/91 - 1
2-141113957-G-A c.11484C>T p.R3828= Synonymous 75/91 - 3
2-141113957-G-C c.11484C>G p.R3828= Synonymous 75/91 - 3
2-141113957-G-T c.11484C>A p.R3828= Synonymous 75/91 - 4
2-141113958-C-A c.11483G>T p.R3828L Missense 75/91 - 3
2-141113958-C-G c.11483G>C p.R3828P Missense 75/91 - 1
2-141113958-C-T c.11483G>A p.R3828H Missense 75/91 - 4
2-141113959-G-A c.11482C>T p.R3828C Missense 75/91 - 2
2-141113959-G-T c.11482C>A p.R3828S Missense 75/91 - 3
2-141113960-A-T c.11481T>A p.C3827* Nonsense 75/91 - 1
2-141113962-A-C c.11479T>G p.C3827G Missense 75/91 - 1
2-141113963-G-A c.11478C>T p.F3826= Synonymous 75/91 - 1
2-141113963-G-C c.11478C>G p.F3826L Missense 75/91 - 1
2-141113963-G-T c.11478C>A p.F3826L Missense 75/91 - 1
2-141113965-A-G c.11476T>C p.F3826L Missense 75/91 - 1
2-141113967-A-C c.11474T>G p.V3825G Missense 75/91 - 1
2-141113970-G-A c.11471C>T p.S3824F Missense 75/91 - 3
2-141113972-T-A c.11469A>T p.T3823= Synonymous 75/91 - 2
2-141113973-G-T c.11468C>A p.T3823K Missense 75/91 - 1
2-141113983-G-T c.11458C>A p.Q3820K Missense 75/91 - 3
2-141113986-T-A c.11455A>T p.N3819Y Missense 75/91 - 3
2-141113987-A-C c.11454T>G p.C3818W Missense 75/91 - 1
2-141113987-A-T c.11454T>A p.C3818* Nonsense 75/91 - 4
2-141113988-C-A c.11453G>T p.C3818F Missense 75/91 - 3
2-141113992-A-G c.11449T>C p.Y3817H Missense 75/91 - 2
2-141113994-G-A c.11447C>T p.A3816V Missense 75/91 - 7
2-141113994-G-T c.11447C>A p.A3816E Missense 75/91 - 1
2-141113995-C-G c.11446G>C p.A3816P Missense 75/91 - 2
2-141113998-C-A c.11443G>T p.D3815Y Missense 75/91 - 1
2-141113998-C-G c.11443G>C p.D3815H Missense 75/91 - 3
2-141113998-C-T c.11443G>A p.D3815N Missense 75/91 - 3
2-141113999-A-C c.11442T>G p.D3814E Missense 75/91 - 2
2-141114000-T-A c.11441A>T p.D3814V Missense 75/91 - 3
2-141114000-T-C c.11441A>G p.D3814G Missense 75/91 - 1
2-141114001-C-T c.11440G>A p.D3814N Missense 75/91 - 1
2-141114003-C-A c.11438G>T p.G3813V Missense 75/91 - 5
2-141114004-C-A c.11437G>T p.G3813* Nonsense 75/91 - 1
2-141114005-A-T c.11436T>A p.C3812* Nonsense 75/91 - 1
2-141114006-C-A c.11435G>T p.C3812F Missense 75/91 - 1
2-141114006-C-T c.11435G>A p.C3812Y Missense 75/91 - 4
2-141114009-G-A c.11432C>T p.P3811L Missense 75/91 - 3
2-141114009-G-C c.11432C>G p.P3811R Missense 75/91 - 1
2-141114009-G-T c.11432C>A p.P3811Q Missense 75/91 - 1
2-141114010-G-A c.11431C>T p.P3811S Missense 75/91 - 2
2-141114013-T-G c.11428A>C p.N3810H Missense 75/91 - 1
2-141114014-C-T c.11427G>A p.V3809= Synonymous 75/91 - 2
2-141114020-A-C c.11421T>G p.D3807E Missense 75/91 - 1
2-141114020-A-T c.11421T>A p.D3807E Missense 75/91 - 1
2-141114022-C-T c.11419G>A p.D3807N Missense 75/91 - 2
2-141114025-C-T c.11416G>A p.E3806K Missense 75/91 - 4
2-141114026-A-T c.11415T>A p.C3805* Nonsense 75/91 - 1
2-141114027-C-G c.11414G>C p.C3805S Missense 75/91 - 2
2-141114028-A-T c.11413T>A p.C3805S Missense 75/91 - 5
2-141114029-GG-CA c.11411_11412delinsTG p.T3804M Missense 75/91 - 1
2-141114030-G-A c.11411C>T p.T3804I Missense 75/91 - 1
2-141114030-G-T c.11411C>A p.T3804N Missense 75/91 - 1
2-141114031-T-C c.11410A>G p.T3804A Missense 75/91 - 2
2-141114037-C-G c.11404G>C p.E3802Q Missense 75/91 - 1
2-141114037-C-T c.11404G>A p.E3802K Missense 75/91 - 1
2-141114038-A-C c.11403T>G p.T3801= Synonymous 75/91 - 1
2-141114038-A-G c.11403T>C p.T3801= Synonymous 75/91 - 1
2-141114038-A-T c.11403T>A p.T3801= Synonymous 75/91 - 1
2-141114042-G-A c.11399C>T p.P3800L Missense 75/91 - 2
2-141114043-G-T c.11398C>A p.P3800T Missense 75/91 - 2
2-141114044-A-G c.11397T>C p.A3799= Synonymous 75/91 - 1
2-141114045-G-A c.11396C>T p.A3799V Missense 75/91 - 1
2-141115284-T-C c.11395+264A>G - IntronicSNV - 74/90 1
2-141115380-C-G c.11395+168G>C - IntronicSNV - 74/90 1
2-141115405-T-C c.11395+143A>G - IntronicSNV - 74/90 1
2-141115412-G-A c.11395+136C>T - IntronicSNV - 74/90 1
2-141115468-A-C c.11395+80T>G - IntronicSNV - 74/90 1
2-141115547-C-A c.11395+1G>T - IntronicSNV - 74/90 1
2-141115548-C-G c.11395G>C p.A3799P Missense 74/91 - 1
2-141115554-T-A c.11389A>T p.R3797* Nonsense 74/91 - 1
2-141115556-C-A c.11387G>T p.C3796F Missense 74/91 - 2
2-141115558-T-A c.11385A>T p.G3795= Synonymous 74/91 - 1
2-141115558-T-C c.11385A>G p.G3795= Synonymous 74/91 - 1
2-141115558-T-G c.11385A>C p.G3795= Synonymous 74/91 - 1
2-141115559-C-T c.11384G>A p.G3795E Missense 74/91 - 1
2-141115560-C-A c.11383G>T p.G3795* Nonsense 74/91 - 1
2-141115560-C-T c.11383G>A p.G3795R Missense 74/91 - 1
2-141115561-T-C c.11382A>G p.Q3794= Synonymous 74/91 - 2
2-141115562-T-A c.11381A>T p.Q3794L Missense 74/91 - 1
2-141115566-C-A c.11377G>T p.E3793* Nonsense 74/91 - 1
2-141115569-C-A c.11374G>T p.D3792Y Missense 74/91 - 1
2-141115569-C-T c.11374G>A p.D3792N Missense 74/91 - 2
2-141115571-G-C c.11372C>G p.S3791* Nonsense 74/91 - 1
2-141115571-G-T c.11372C>A p.S3791* Nonsense 74/91 - 1
2-141115574-C-T c.11369G>A p.G3790D Missense 74/91 - 1
2-141115578-C-T c.11365G>A p.D3789N Missense 74/91 - 2
2-141115579-T-C c.11364A>G p.G3788= Synonymous 74/91 - 2
2-141115580-C-G c.11363G>C p.G3788A Missense 74/91 - 1
2-141115580-C-T c.11363G>A p.G3788E Missense 74/91 - 1
2-141115581-C-A c.11362G>T p.G3788* Nonsense 74/91 - 3
2-141115581-C-G c.11362G>C p.G3788R Missense 74/91 - 4
2-141115581-C-T c.11362G>A p.G3788R Missense 74/91 - 7
2-141115582-G-A c.11361C>T p.C3787= Synonymous 74/91 - 4
2-141115582-G-T c.11361C>A p.C3787* Nonsense 74/91 - 1
2-141115583-C-T c.11360G>A p.C3787Y Missense 74/91 - 2
2-141115583-GC-G c.11360del p.C3787Sfs*12 Frameshift 74/91 - 1
2-141115584-A-T c.11359T>A p.C3787S Missense 74/91 - 1
2-141115584-A-AG c.11358dup p.C3787Lfs*7 Frameshift 74/91 - 1
2-141115586-T-C c.11357A>G p.D3786G Missense 74/91 - 1
2-141115590-C-A c.11353G>T p.D3785Y Missense 74/91 - 4
2-141115590-TC-T c.11353del p.D3785Mfs*14 Frameshift 74/91 - 1
2-141115590-C-CA c.11352dup p.D3785* Nonsense 74/91 - 1
2-141115593-G-C c.11350C>G p.L3784V Missense 74/91 - 4
2-141115595-C-A c.11348G>T p.R3783L Missense 74/91 - 2
2-141115595-C-T c.11348G>A p.R3783Q Missense 74/91 - 5
2-141115596-G-A c.11347C>T p.R3783* Nonsense 74/91 - 9
2-141115599-C-A c.11344G>T p.D3782Y Missense 74/91 - 4
2-141115599-C-T c.11344G>A p.D3782N Missense 74/91 - 1
2-141115600-A-C c.11343T>G p.C3781W Missense 74/91 - 1
2-141115600-A-G c.11343T>C p.C3781= Synonymous 74/91 - 2
2-141115600-A-T c.11343T>A p.C3781* Nonsense 74/91 - 2
2-141115603-C-A c.11340G>T p.Q3780H Missense 74/91 - 2
2-141115604-T-A c.11339A>T p.Q3780L Missense 74/91 - 1
2-141115607-A-C c.11336T>G p.L3779R Missense 74/91 - 1
2-141115608-G-A c.11335C>T p.L3779F Missense 74/91 - 5
2-141115611-C-A c.11332G>T p.D3778Y Missense 74/91 - 2
2-141115611-C-G c.11332G>C p.D3778H Missense 74/91 - 1
2-141115611-C-T c.11332G>A p.D3778N Missense 74/91 - 2
2-141115612-C-A c.11331G>T p.M3777I Missense 74/91 - 4
2-141115612-C-G c.11331G>C p.M3777I Missense 74/91 - 5
2-141115612-C-T c.11331G>A p.M3777I Missense 74/91 - 7
2-141115614-T-A c.11329A>T p.M3777L Missense 74/91 - 1
2-141115614-T-G c.11329A>C p.M3777L Missense 74/91 - 1
2-141115615-A-G c.11328T>C p.P3776= Synonymous 74/91 - 3
2-141115616-G-A c.11327C>T p.P3776L Missense 74/91 - 1
2-141115616-G-T c.11327C>A p.P3776H Missense 74/91 - 1
2-141115617-G-A c.11326C>T p.P3776S Missense 74/91 - 3
2-141115618-G-A c.11325C>T p.I3775= Synonymous 74/91 - 1
2-141115619-A-T c.11324T>A p.I3775N Missense 74/91 - 1
2-141115622-C-A c.11321G>T p.C3774F Missense 74/91 - 2
2-141115622-C-CT c.11320_11321insA p.C3774* Nonsense 74/91 - 1
2-141115622-C-G c.11321G>C p.C3774S Missense 74/91 - 2
2-141115623-A-C c.11320T>G p.C3774G Missense 74/91 - 1
2-141115623-A-G c.11320T>C p.C3774R Missense 74/91 - 2
2-141115623-A-T c.11320T>A p.C3774S Missense 74/91 - 5
2-141115626-T-TA c.11316_11317insT p.K3773* Nonsense 74/91 - 1
2-141115627-T-A c.11316A>T p.K3772N Missense 74/91 - 1
2-141115627-T-G c.11316A>C p.K3772N Missense 74/91 - 1
2-141115628-T-A c.11315A>T p.K3772I Missense 74/91 - 1
2-141115623-A-AT c.11319dup p.C3774Mfs*9 Frameshift 74/91 - 1
2-141115629-T-A c.11314A>T p.K3772* Nonsense 74/91 - 1
2-141115630-A-C c.11313T>G p.N3771K Missense 74/91 - 1
2-141115635-T-C c.11308A>G p.S3770G Missense 74/91 - 2
2-141115637-C-T c.11306G>A p.C3769Y Missense 74/91 - 1
2-141115638-A-C c.11305T>G p.C3769G Missense 74/91 - 4
2-141115643-A-G c.11300T>C p.F3767S Missense 74/91 - 2
2-141115650-C-CA c.11292_11293insT p.D3765* Nonsense 74/91 - 1
2-141115650-C-T c.11293G>A p.D3765N Missense 74/91 - 4
2-141115652-T-C c.11291A>G p.K3764R Missense 74/91 - 2
2-141115655-T-G c.11288A>C p.K3763T Missense 74/91 - 1
2-141115651-CT-C c.11291del p.K3764Rfs*35 Frameshift 74/91 - 1
2-141115658-C-A c.11285G>T p.C3762F Missense 74/91 - 3
2-141115658-C-CT c.11284_11285insA p.C3762* Nonsense 74/91 - 1
2-141115658-C-CA c.11284dup p.C3762Lfs*2 Frameshift 74/91 - 3
2-141115661-G-A c.11282C>T p.P3761L Missense 74/91 - 1
2-141115667-G-T c.11276C>A p.A3759E Missense 74/91 - 2
2-141115668-C-A c.11275G>T p.A3759S Missense 74/91 - 3
2-141115668-C-T c.11275G>A p.A3759T Missense 74/91 - 1
2-141115674-A-G c.11269T>C p.Y3757H Missense 74/91 - 2
2-141115674-A-T c.11269T>A p.Y3757N Missense 74/91 - 1
2-141115675-T-A c.11268A>T p.T3756= Synonymous 74/91 - 2
2-141115676-G-T c.11267C>A p.T3756K Missense 74/91 - 3
2-141115677-T-A c.11266A>T p.T3756S Missense 74/91 - 2
2-141115678-C-A c.11265G>T p.L3755= Synonymous 74/91 - 1
2-141115678-C-G c.11265G>C p.L3755= Synonymous 74/91 - 1
2-141115678-C-T c.11265G>A p.L3755= Synonymous 74/91 - 1
2-141115680-G-A c.11263C>T p.L3755= Synonymous 74/91 - 2
2-141115679-A-G c.11264T>C p.L3755P Missense 74/91 - 1
2-141115682-T-C c.11261A>G p.K3754R Missense 74/91 - 2
2-141115683-T-C c.11260A>G p.K3754E Missense 74/91 - 2
2-141116274-G-A c.11257+116C>T - IntronicSNV - 73/90 1
2-141116392-C-T c.11255G>A p.G3752D Missense 73/91 - 1
2-141116394-A-T c.11253T>A p.C3751* Nonsense 73/91 - 2
2-141116396-A-T c.11251T>A p.C3751S Missense 73/91 - 1
2-141116399-G-A c.11248C>T p.H3750Y Missense 73/91 - 5
2-141116401-T-A c.11246A>T p.D3749V Missense 73/91 - 1
2-141116402-C-A c.11245G>T p.D3749Y Missense 73/91 - 2
2-141116405-C-T c.11242G>A p.E3748K Missense 73/91 - 1
2-141116407-T-G c.11240A>C p.D3747A Missense 73/91 - 2
2-141116408-C-A c.11239G>T p.D3747Y Missense 73/91 - 1
2-141116408-C-G c.11239G>C p.D3747H Missense 73/91 - 1
2-141116408-C-T c.11239G>A p.D3747N Missense 73/91 - 2
2-141116409-TG-AT c.11237_11238delinsAT p.S3746Y Missense 73/91 - 1
2-141116410-G-A c.11237C>T p.S3746L Missense 73/91 - 2
2-141116412-A-C c.11235T>G p.N3745K Missense 73/91 - 1
2-141116412-A-T c.11235T>A p.N3745K Missense 73/91 - 1
2-141116414-T-C c.11233A>G p.N3745D Missense 73/91 - 1
2-141116415-G-A c.11232C>T p.D3744= Synonymous 73/91 - 1
2-141116418-A-C c.11229T>G p.G3743= Synonymous 73/91 - 1
2-141116418-A-G c.11229T>C p.G3743= Synonymous 73/91 - 1
2-141116418-A-T c.11229T>A p.G3743= Synonymous 73/91 - 1
2-141116419-C-G c.11228G>C p.G3743A Missense 73/91 - 1
2-141116420-C-A c.11227G>T p.G3743C Missense 73/91 - 2
2-141116420-C-T c.11227G>A p.G3743S Missense 73/91 - 18
2-141116421-G-A c.11226C>T p.C3742= Synonymous 73/91 - 2
2-141116422-C-G c.11225G>C p.C3742S Missense 73/91 - 1
2-141116423-A-G c.11224T>C p.C3742R Missense 73/91 - 1
2-141116423-A-T c.11224T>A p.C3742S Missense 73/91 - 1
2-141116424-T-A c.11223A>T p.E3741D Missense 73/91 - 1
2-141116424-T-G c.11223A>C p.E3741D Missense 73/91 - 1
2-141116426-C-A c.11221G>T p.E3741* Nonsense 73/91 - 1
2-141116426-C-T c.11221G>A p.E3741K Missense 73/91 - 3
2-141116427-A-C c.11220T>G p.D3740E Missense 73/91 - 1
2-141116427-A-T c.11220T>A p.D3740E Missense 73/91 - 1
2-141116429-C-T c.11218G>A p.D3740N Missense 73/91 - 2
2-141116432-T-C c.11215A>G p.I3739V Missense 73/91 - 2
2-141116433-C-A c.11214G>T p.G3738= Synonymous 73/91 - 1
2-141116434-C-A c.11213G>T p.G3738V Missense 73/91 - 2
2-141116434-C-T c.11213G>A p.G3738E Missense 73/91 - 2
2-141116435-C-T c.11212G>A p.G3738R Missense 73/91 - 1
2-141116438-T-A c.11209A>T p.N3737Y Missense 73/91 - 2
2-141116438-T-C c.11209A>G p.N3737D Missense 73/91 - 1
2-141116447-G-A c.11200C>T p.Q3734* Nonsense 73/91 - 2
2-141116447-G-T c.11200C>A p.Q3734K Missense 73/91 - 18
2-141116449-T-C c.11198A>G p.E3733G Missense 73/91 - 1
2-141116450-C-G c.11197G>C p.E3733Q Missense 73/91 - 1
2-141116451-C-A c.11196G>T p.S3732= Synonymous 73/91 - 2
2-141116451-C-G c.11196G>C p.S3732= Synonymous 73/91 - 3
2-141116451-C-T c.11196G>A p.S3732= Synonymous 73/91 - 3
2-141116452-G-A c.11195C>T p.S3732L Missense 73/91 - 5
2-141116452-G-T c.11195C>A p.S3732* Nonsense 73/91 - 1
2-141116455-T-A c.11192A>T p.Q3731L Missense 73/91 - 2
2-141116455-T-G c.11192A>C p.Q3731P Missense 73/91 - 1
2-141116459-G-A c.11188C>T p.L3730= Synonymous 73/91 - 2
2-141116459-G-T c.11188C>A p.L3730I Missense 73/91 - 4
2-141116461-C-A c.11186G>T p.C3729F Missense 73/91 - 1
2-141116461-C-G c.11186G>C p.C3729S Missense 73/91 - 4
2-141116461-C-T c.11186G>A p.C3729Y Missense 73/91 - 1
2-141116462-A-T c.11185T>A p.C3729S Missense 73/91 - 2
2-141116468-T-A c.11179A>T p.R3727* Nonsense 73/91 - 1
2-141116469-G-C c.11178C>G p.N3726K Missense 73/91 - 2
2-141116469-G-T c.11178C>A p.N3726K Missense 73/91 - 1
2-141116470-T-G c.11177A>C p.N3726T Missense 73/91 - 1
2-141116473-T-A c.11174A>T p.N3725I Missense 73/91 - 1
2-141116476-C-T c.11171G>A p.R3724K Missense 73/91 - 3
2-141116478-G-T c.11169C>A p.C3723* Nonsense 73/91 - 2
2-141116479-C-A c.11168G>T p.C3723F Missense 73/91 - 1
2-141116479-C-T c.11168G>A p.C3723Y Missense 73/91 - 1
2-141116480-A-C c.11167T>G p.C3723G Missense 73/91 - 2
2-141116484-G-A c.11163C>T p.H3721= Synonymous 73/91 - 1
2-141116484-G-T c.11163C>A p.H3721Q Missense 73/91 - 2
2-141116485-T-C c.11162A>G p.H3721R Missense 73/91 - 1
2-141116488-G-C c.11159C>G p.P3720R Missense 73/91 - 1
2-141116489-G-A c.11158C>T p.P3720S Missense 73/91 - 2
2-141116491-C-T c.11156G>A p.R3719K Missense 73/91 - 1
2-141116493-C-A c.11154G>T p.T3718= Synonymous 73/91 - 1
2-141116493-C-G c.11154G>C p.T3718= Synonymous 73/91 - 1
2-141116493-C-T c.11154G>A p.T3718= Synonymous 73/91 - 1
2-141116494-G-A c.11153C>T p.T3718M Missense 73/91 - 1
2-141116494-G-C c.11153C>G p.T3718R Missense 73/91 - 1
2-141116494-G-T c.11153C>A p.T3718K Missense 73/91 - 2
2-141116498-A-G c.11149T>C p.S3717P Missense 73/91 - 1
2-141116501-G-A c.11146C>T p.P3716S Missense 73/91 - 1
2-141116503-C-A c.11144G>T p.C3715F Missense 73/91 - 2
2-141116503-C-T c.11144G>A p.C3715Y Missense 73/91 - 1
2-141116504-A-T c.11143T>A p.C3715S Missense 73/91 - 1
2-141116507-G-A c.11140C>T p.L3714F Missense 73/91 - 12
2-141116507-G-T c.11140C>A p.L3714I Missense 73/91 - 8
2-141116508-A-G c.11139T>C p.F3713= Synonymous 73/91 - 1
2-141116510-A-T c.11137T>A p.F3713I Missense 73/91 - 2
2-141116514-G-A c.11133C>T p.V3711= Synonymous 73/91 - 1
2-141116514-G-C c.11133C>G p.V3711= Synonymous 73/91 - 1
2-141116514-G-T c.11133C>A p.V3711= Synonymous 73/91 - 1
2-141116515-A-G c.11132T>C p.V3711A Missense 73/91 - 4
2-141122064-G-T c.11131+166C>A - IntronicSNV - 72/90 1
2-141122156-C-T c.11131+74G>A - IntronicSNV - 72/90 1
2-141122198-A-C c.11131+32T>G - IntronicSNV - 72/90 1
2-141122225-C-T c.11131+5G>A - IntronicSNV - 72/90 1
2-141122229-C-T c.11131+1G>A - IntronicSNV - 72/90 1
2-141122230-C-A c.11131G>T p.V3711F Missense 72/91 - 3
2-141122234-C-A c.11127G>T p.M3709I Missense 72/91 - 2
2-141122234-C-G c.11127G>C p.M3709I Missense 72/91 - 1
2-141122234-C-T c.11127G>A p.M3709I Missense 72/91 - 1
2-141122239-C-A c.11122G>T p.D3708Y Missense 72/91 - 3
2-141122239-C-G c.11122G>C p.D3708H Missense 72/91 - 1
2-141122239-C-T c.11122G>A p.D3708N Missense 72/91 - 1
2-141122241-G-A c.11120C>T p.P3707L Missense 72/91 - 2
2-141122242-G-A c.11119C>T p.P3707S Missense 72/91 - 3
2-141122242-G-T c.11119C>A p.P3707T Missense 72/91 - 1
2-141122248-C-T c.11113G>A p.E3705K Missense 72/91 - 6
2-141122253-G-A c.11108C>T p.S3703F Missense 72/91 - 2
2-141122257-T-C c.11104A>G p.N3702D Missense 72/91 - 1
2-141122258-G-T c.11103C>A p.D3701E Missense 72/91 - 1
2-141122260-C-T c.11101G>A p.D3701N Missense 72/91 - 1
2-141122262-C-A c.11099G>T p.G3700V Missense 72/91 - 4
2-141122263-C-A c.11098G>T p.G3700* Nonsense 72/91 - 5
2-141122263-C-T c.11098G>A p.G3700R Missense 72/91 - 3
2-141122265-C-G c.11096G>C p.C3699S Missense 72/91 - 1
2-141122266-A-T c.11095T>A p.C3699S Missense 72/91 - 3
2-141122267-G-C c.11094C>G p.D3698E Missense 72/91 - 3
2-141122269-C-T c.11092G>A p.D3698N Missense 72/91 - 10
2-141122270-G-A c.11091C>T p.D3697= Synonymous 72/91 - 1
2-141122272-C-T c.11089G>A p.D3697N Missense 72/91 - 1
2-141122275-C-A c.11086G>T p.E3696* Nonsense 72/91 - 1
2-141122277-C-A c.11084G>T p.G3695V Missense 72/91 - 6
2-141122277-C-T c.11084G>A p.G3695E Missense 72/91 - 1
2-141122278-C-A c.11083G>T p.G3695* Nonsense 72/91 - 1
2-141122278-C-T c.11083G>A p.G3695R Missense 72/91 - 1
2-141122281-C-T c.11080G>A p.D3694N Missense 72/91 - 1
2-141122286-A-T c.11075T>A p.V3692E Missense 72/91 - 1
2-141122287-C-A c.11074G>T p.V3692L Missense 72/91 - 3
2-141122287-C-T c.11074G>A p.V3692M Missense 72/91 - 1
2-141122288-C-A c.11073G>T p.W3691C Missense 72/91 - 2
2-141122288-C-G c.11073G>C p.W3691C Missense 72/91 - 3
2-141122288-C-T c.11073G>A p.W3691* Nonsense 72/91 - 3
2-141122289-C-T c.11072G>A p.W3691* Nonsense 72/91 - 5
2-141122291-G-T c.11070C>A p.F3690L Missense 72/91 - 2
2-141122291-G-C c.11070C>G p.F3690L Missense 72/91 - 1
2-141122293-A-G c.11068T>C p.F3690L Missense 72/91 - 1
2-141122294-A-C c.11067T>G p.H3689Q Missense 72/91 - 1
2-141122294-A-T c.11067T>A p.H3689Q Missense 72/91 - 1
2-141122295-T-G c.11066A>C p.H3689P Missense 72/91 - 3
2-141122298-A-T c.11063T>A p.L3688Q Missense 72/91 - 1
2-141122299-G-C c.11062C>G p.L3688V Missense 72/91 - 1
2-141122302-T-C c.11059A>G p.K3687E Missense 72/91 - 1
2-141122305-A-C c.11056T>G p.C3686G Missense 72/91 - 1
2-141122308-G-A c.11053C>T p.L3685F Missense 72/91 - 2
2-141122309-A-C c.11052T>G p.S3684= Synonymous 72/91 - 3
2-141122309-A-G c.11052T>C p.S3684= Synonymous 72/91 - 4
2-141122309-A-T c.11052T>A p.S3684= Synonymous 72/91 - 3
2-141122310-G-A c.11051C>T p.S3684F Missense 72/91 - 5
2-141122310-G-C c.11051C>G p.S3684C Missense 72/91 - 1
2-141122310-G-T c.11051C>A p.S3684Y Missense 72/91 - 3
2-141122312-A-T c.11049T>A p.N3683K Missense 72/91 - 2
2-141122313-T-G c.11048A>C p.N3683T Missense 72/91 - 5
2-141122314-T-C c.11047A>G p.N3683D Missense 72/91 - 1
2-141122319-C-G c.11042G>C p.C3681S Missense 72/91 - 1
2-141122322-A-G c.11039T>C p.L3680P Missense 72/91 - 1
2-141122322-A-T c.11039T>A p.L3680H Missense 72/91 - 2
2-141122323-G-C c.11038C>G p.L3680V Missense 72/91 - 2
2-141122322-AG-A c.11038del p.L3680Ffs*76 Frameshift 72/91 - 2
2-141122324-G-A c.11037C>T p.F3679= Synonymous 72/91 - 3
2-141122325-A-G c.11036T>C p.F3679S Missense 72/91 - 1
2-141122328-T-A c.11033A>T p.E3678V Missense 72/91 - 1
2-141122329-C-T c.11032G>A p.E3678K Missense 72/91 - 4
2-141122330-A-C c.11031T>G p.D3677E Missense 72/91 - 1
2-141122330-A-T c.11031T>A p.D3677E Missense 72/91 - 1
2-141122332-C-T c.11029G>A p.D3677N Missense 72/91 - 2
2-141122334-G-T c.11027C>A p.A3676D Missense 72/91 - 2
2-141122335-C-A c.11026G>T p.A3676S Missense 72/91 - 4
2-141122336-T-A c.11025A>T p.R3675S Missense 72/91 - 1
2-141122337-C-A c.11024G>T p.R3675I Missense 72/91 - 3
2-141122334-GCTCTACATATATTTC-G c.11012_11026del p.G3671_R3675del InFrameDeletion 72/91 - 1
2-141122342-T-A c.11019A>T p.I3673= Synonymous 72/91 - 1
2-141122342-T-G c.11019A>C p.I3673= Synonymous 72/91 - 1
2-141122349-C-A c.11012G>T p.G3671V Missense 72/91 - 1
2-141122349-C-T c.11012G>A p.G3671E Missense 72/91 - 13
2-141122350-C-A c.11011G>T p.G3671* Nonsense 72/91 - 2
2-141122351-T-A c.11010A>T p.G3670= Synonymous 72/91 - 1
2-141122351-T-C c.11010A>G p.G3670= Synonymous 72/91 - 1
2-141122351-T-G c.11010A>C p.G3670= Synonymous 72/91 - 1
2-141122352-C-A c.11009G>T p.G3670V Missense 72/91 - 1
2-141122352-C-T c.11009G>A p.G3670E Missense 72/91 - 4
2-141127802-G-A c.11008+477C>T - IntronicSNV - 71/90 1
2-141127998-T-G c.11008+281A>C - IntronicSNV - 71/90 1
2-141128000-T-A c.11008+279A>T - IntronicSNV - 71/90 1
2-141128003-C-T c.11008+276G>A - IntronicSNV - 71/90 1
2-141128274-C-A c.11008+5G>T - IntronicSNV - 71/90 1
2-141128279-C-G c.11008G>C p.G3670R Missense 71/91 - 3
2-141128281-C-G c.11006G>C p.R3669T Missense 71/91 - 1
2-141128281-C-T c.11006G>A p.R3669K Missense 71/91 - 4
2-141128282-T-C c.11005A>G p.R3669G Missense 71/91 - 1
2-141128282-T-TA c.11004_11005insT p.R3669* Nonsense 71/91 - 2
2-141128281-CT-C c.11005del p.R3669Efs*87 Frameshift 71/91 - 1
2-141128284-T-A c.11003A>T p.E3668V Missense 71/91 - 2
2-141128287-C-A c.11000G>T p.C3667F Missense 71/91 - 1
2-141128288-A-G c.10999T>C p.C3667R Missense 71/91 - 1
2-141128289-G-C c.10998C>G p.N3666K Missense 71/91 - 2
2-141128289-G-T c.10998C>A p.N3666K Missense 71/91 - 4
2-141128292-C-A c.10995G>T p.E3665D Missense 71/91 - 6
2-141128292-C-G c.10995G>C p.E3665D Missense 71/91 - 3
2-141128292-C-T c.10995G>A p.E3665= Synonymous 71/91 - 1
2-141128294-C-A c.10993G>T p.E3665* Nonsense 71/91 - 1
2-141128294-C-T c.10993G>A p.E3665K Missense 71/91 - 5
2-141128297-C-G c.10990G>C p.E3664Q Missense 71/91 - 1
2-141128297-C-T c.10990G>A p.E3664K Missense 71/91 - 1
2-141128300-C-T c.10987G>A p.D3663N Missense 71/91 - 5
2-141128301-A-C c.10986T>G p.S3662R Missense 71/91 - 2
2-141128301-A-G c.10986T>C p.S3662= Synonymous 71/91 - 2
2-141128301-A-T c.10986T>A p.S3662R Missense 71/91 - 2
2-141128303-T-G c.10984A>C p.S3662R Missense 71/91 - 2
2-141128302-C-A c.10985G>T p.S3662I Missense 71/91 - 1
2-141128302-C-T c.10985G>A p.S3662N Missense 71/91 - 4
2-141128299-TCACTGCCATCCACACAGTCATGAATTCCATCA-T c.10956_10987del p.C3652* Frameshift 71/91 - 1
2-141128305-C-A c.10982G>T p.G3661V Missense 71/91 - 6
2-141128306-C-G c.10981G>C p.G3661R Missense 71/91 - 5
2-141128307-A-G c.10980T>C p.D3660= Synonymous 71/91 - 1
2-141128309-CC-TA c.10977_10978delinsTA p.D3660N Missense 71/91 - 2
2-141128309-C-G c.10978G>C p.D3660H Missense 71/91 - 1
2-141128309-C-T c.10978G>A p.D3660N Missense 71/91 - 1
2-141128303-TGCCATCCACACAGTCATGAATTCCATCACACA-T c.10952_10983del p.L3651Qfs*2 Frameshift 71/91 - 1
2-141128311-A-G c.10976T>C p.V3659A Missense 71/91 - 1
2-141128312-C-A c.10975G>T p.V3659L Missense 71/91 - 1
2-141128312-C-G c.10975G>C p.V3659L Missense 71/91 - 1
2-141128312-C-T c.10975G>A p.V3659M Missense 71/91 - 4
2-141128314-C-T c.10973G>A p.C3658Y Missense 71/91 - 1
2-141128318-C-A c.10969G>T p.D3657Y Missense 71/91 - 6
2-141128318-C-T c.10969G>A p.D3657N Missense 71/91 - 1
2-141128321-G-A c.10966C>T p.H3656Y Missense 71/91 - 2
2-141128327-C-A c.10960G>T p.G3654* Nonsense 71/91 - 2
2-141128327-C-T c.10960G>A p.G3654R Missense 71/91 - 2
2-141128328-A-G c.10959T>C p.D3653= Synonymous 71/91 - 2
2-141128329-T-A c.10958A>T p.D3653V Missense 71/91 - 2
2-141128330-C-T c.10957G>A p.D3653N Missense 71/91 - 4
2-141128331-A-T c.10956T>A p.C3652* Nonsense 71/91 - 1
2-141128332-C-T c.10955G>A p.C3652Y Missense 71/91 - 3
2-141128334-C-A c.10953G>T p.L3651= Synonymous 71/91 - 1
2-141128334-C-G c.10953G>C p.L3651= Synonymous 71/91 - 1
2-141128334-C-T c.10953G>A p.L3651= Synonymous 71/91 - 4
2-141128336-G-A c.10951C>T p.L3651= Synonymous 71/91 - 1
2-141128337-C-A c.10950G>T p.W3650C Missense 71/91 - 1
2-141128337-C-G c.10950G>C p.W3650C Missense 71/91 - 1
2-141128338-C-T c.10949G>A p.W3650* Nonsense 71/91 - 1
2-141128339-A-T c.10948T>A p.W3650R Missense 71/91 - 1
2-141128344-A-T c.10943T>A p.I3648N Missense 71/91 - 1
2-141128347-G-A c.10940C>T p.P3647L Missense 71/91 - 1
2-141128348-G-A c.10939C>T p.P3647S Missense 71/91 - 1
2-141128352-A-G c.10935T>C p.C3645= Synonymous 71/91 - 1
2-141128354-A-G c.10933T>C p.C3645R Missense 71/91 - 2
2-141128355-G-C c.10932C>G p.H3644Q Missense 71/91 - 1
2-141128357-G-A c.10930C>T p.H3644Y Missense 71/91 - 6
2-141128357-G-C c.10930C>G p.H3644D Missense 71/91 - 1
2-141128359-G-A c.10928C>T p.A3643V Missense 71/91 - 1
2-141128359-G-T c.10928C>A p.A3643D Missense 71/91 - 2
2-141128362-T-A c.10925A>T p.K3642I Missense 71/91 - 1
2-141128363-T-A c.10924A>T p.K3642* Nonsense 71/91 - 1
2-141128363-T-C c.10924A>G p.K3642E Missense 71/91 - 2
2-141128364-A-C c.10923T>G p.N3641K Missense 71/91 - 1
2-141128364-A-T c.10923T>A p.N3641K Missense 71/91 - 1
2-141128365-T-C c.10922A>G p.N3641S Missense 71/91 - 1
2-141128366-T-A c.10921A>T p.N3641Y Missense 71/91 - 1
2-141128366-T-C c.10921A>G p.N3641D Missense 71/91 - 1
2-141128366-T-TA c.10920_10921insT p.N3641* Nonsense 71/91 - 1
2-141128367-T-A c.10920A>T p.K3640N Missense 71/91 - 1
2-141128367-T-G c.10920A>C p.K3640N Missense 71/91 - 1
2-141128368-T-A c.10919A>T p.K3640I Missense 71/91 - 3
2-141128372-A-C c.10915T>G p.C3639G Missense 71/91 - 1
2-141128374-C-A c.10913G>T p.R3638L Missense 71/91 - 1
2-141128374-C-T c.10913G>A p.R3638Q Missense 71/91 - 1
2-141128373-C-A c.10914G>T p.R3638= Synonymous 71/91 - 2
2-141128373-C-G c.10914G>C p.R3638= Synonymous 71/91 - 1
2-141128373-C-T c.10914G>A p.R3638= Synonymous 71/91 - 1
2-141128375-G-A c.10912C>T p.R3638W Missense 71/91 - 20
2-141128375-G-T c.10912C>A p.R3638= Synonymous 71/91 - 1
2-141128380-T-C c.10907A>G p.Q3636R Missense 71/91 - 1
2-141128381-G-A c.10906C>T p.Q3636* Nonsense 71/91 - 3
2-141128384-C-A c.10903G>T p.D3635Y Missense 71/91 - 1
2-141128384-C-T c.10903G>A p.D3635N Missense 71/91 - 1
2-141128387-C-A c.10900G>T p.E3634* Nonsense 71/91 - 4
2-141128388-CCTTACATTCAGTCACACAG-C c.10881_10899del p.D3627Efs*123 Frameshift 71/91 - 1
2-141128388-C-T c.10899G>A p.K3633= Synonymous 71/91 - 1
2-141128391-A-C c.10896T>G p.C3632W Missense 71/91 - 1
2-141128391-A-G c.10896T>C p.C3632= Synonymous 71/91 - 1
2-141128392-C-A c.10895G>T p.C3632F Missense 71/91 - 1
2-141128396-C-G c.10891G>C p.E3631Q Missense 71/91 - 1
2-141128396-C-T c.10891G>A p.E3631K Missense 71/91 - 4
2-141128394-TTCAG-T c.10889_10892del p.T3630Nfs*125 Frameshift 71/91 - 2
2-141128402-C-A c.10885G>T p.V3629L Missense 71/91 - 2
2-141128402-C-G c.10885G>C p.V3629L Missense 71/91 - 2
2-141128402-C-T c.10885G>A p.V3629M Missense 71/91 - 2
2-141128404-C-A c.10883G>T p.C3628F Missense 71/91 - 2
2-141128407-T-C c.10880A>G p.D3627G Missense 71/91 - 2
2-141128408-C-T c.10879G>A p.D3627N Missense 71/91 - 3
2-141128409-C-A c.10878G>T p.M3626I Missense 71/91 - 1
2-141128751-A-C c.10872T>G p.D3624E Missense 70/91 - 2
2-141128751-A-T c.10872T>A p.D3624E Missense 70/91 - 1
2-141128753-C-A c.10870G>T p.D3624Y Missense 70/91 - 2
2-141128753-C-T c.10870G>A p.D3624N Missense 70/91 - 2
2-141128755-G-A c.10868C>T p.S3623L Missense 70/91 - 1
2-141128755-G-C c.10868C>G p.S3623* Nonsense 70/91 - 1
2-141128755-G-T c.10868C>A p.S3623* Nonsense 70/91 - 1
2-141128758-C-G c.10865G>C p.G3622A Missense 70/91 - 2
2-141128762-C-A c.10861G>T p.D3621Y Missense 70/91 - 2
2-141128762-C-G c.10861G>C p.D3621H Missense 70/91 - 1
2-141128764-G-A c.10859C>T p.A3620V Missense 70/91 - 1
2-141128765-C-A c.10858G>T p.A3620S Missense 70/91 - 1
2-141128766-A-C c.10857T>G p.C3619W Missense 70/91 - 3
2-141128771-C-T c.10852G>A p.D3618N Missense 70/91 - 1
2-141128774-A-T c.10849T>A p.Y3617N Missense 70/91 - 2
2-141128779-C-G c.10844G>C p.G3615A Missense 70/91 - 9
2-141128783-T-A c.10840A>T p.N3614Y Missense 70/91 - 4
2-141128790-C-T c.10833G>A p.L3611= Synonymous 70/91 - 3
2-141128794-G-A c.10829C>T p.S3610F Missense 70/91 - 1
2-141128794-G-T c.10829C>A p.S3610Y Missense 70/91 - 3
2-141128795-A-G c.10828T>C p.S3610P Missense 70/91 - 2
2-141128797-G-T c.10826C>A p.A3609E Missense 70/91 - 1
2-141128798-C-T c.10825G>A p.A3609T Missense 70/91 - 1
2-141128800-G-A c.10823C>T p.S3608L Missense 70/91 - 6
2-141128806-C-G c.10817G>C p.C3606S Missense 70/91 - 5
2-141128807-A-T c.10816T>A p.C3606S Missense 70/91 - 1
2-141128809-C-A c.10814G>T p.G3605V Missense 70/91 - 1
2-141128809-C-T c.10814G>A p.G3605E Missense 70/91 - 3
2-141128810-C-A c.10813G>T p.G3605* Nonsense 70/91 - 1
2-141128810-C-G c.10813G>C p.G3605R Missense 70/91 - 1
2-141128810-C-T c.10813G>A p.G3605R Missense 70/91 - 1
2-141128812-T-G c.10811A>C p.D3604A Missense 70/91 - 1
2-141128815-C-A c.10808G>T p.S3603I Missense 70/91 - 3
2-141128815-C-T c.10808G>A p.S3603N Missense 70/91 - 1
2-141128816-T-G c.10807A>C p.S3603R Missense 70/91 - 2
2-141128819-C-T c.10804G>A p.A3602T Missense 70/91 - 4
2-141128822-A-C c.10801T>G p.C3601G Missense 70/91 - 2
2-141128825-T-C c.10798A>G p.I3600V Missense 70/91 - 1
2-141128827-T-A c.10796A>T p.Y3599F Missense 70/91 - 3
2-141128831-C-A c.10792G>T p.E3598* Nonsense 70/91 - 1
2-141128831-C-T c.10792G>A p.E3598K Missense 70/91 - 4
2-141128832-ACG-TCA c.10789_10791delinsTGA p.R3597* Nonsense 70/91 - 1
2-141128833-C-G c.10790G>C p.R3597P Missense 70/91 - 1
2-141128833-C-T c.10790G>A p.R3597H Missense 70/91 - 4
2-141128834-G-A c.10789C>T p.R3597C Missense 70/91 - 1
2-141128835-TG-AT c.10787_10788delinsAT p.S3596Y Missense 70/91 - 1
2-141128836-G-T c.10787C>A p.S3596* Nonsense 70/91 - 1
2-141128839-G-A c.10784C>T p.S3595L Missense 70/91 - 2
2-141128841-G-T c.10782C>A p.C3594* Nonsense 70/91 - 2
2-141128842-C-A c.10781G>T p.C3594F Missense 70/91 - 1
2-141128844-A-C c.10779T>G p.T3593= Synonymous 70/91 - 1
2-141128844-A-G c.10779T>C p.T3593= Synonymous 70/91 - 2
2-141128844-A-T c.10779T>A p.T3593= Synonymous 70/91 - 1
2-141128848-G-T c.10775C>A p.P3592H Missense 70/91 - 1
2-141128851-G-A c.10772C>T p.S3591F Missense 70/91 - 1
2-141128851-G-T c.10772C>A p.S3591Y Missense 70/91 - 2
2-141128854-G-A c.10769C>T p.A3590V Missense 70/91 - 2
2-141128977-C-T c.10769-123G>A - IntronicSNV - 69/90 1
2-141130490-C-A c.10768+87G>T - IntronicSNV - 69/90 1
2-141130501-T-C c.10768+76A>G - IntronicSNV - 69/90 1
2-141130548-T-C c.10768+29A>G - IntronicSNV - 69/90 1
2-141130569-C-G c.10768+8G>C - IntronicSNV - 69/90 1
2-141130570-C-A c.10768+7G>T - IntronicSNV - 69/90 1
2-141130571-T-C c.10768+6A>G - IntronicSNV - 69/90 1
2-141130576-C-A c.10768+1G>T - IntronicSNV - 69/90 1
2-141130577-C-A c.10768G>T p.A3590S Missense 69/91 - 3
2-141130579-G-T c.10766C>A p.P3589Q Missense 69/91 - 2
2-141130580-G-A c.10765C>T p.P3589S Missense 69/91 - 3
2-141130580-G-T c.10765C>A p.P3589T Missense 69/91 - 5
2-141130581-C-T c.10764G>A p.E3588= Synonymous 69/91 - 1
2-141130585-C-A c.10760G>T p.C3587F Missense 69/91 - 4
2-141130586-A-G c.10759T>C p.C3587R Missense 69/91 - 1
2-141130587-G-C c.10758C>G p.S3586R Missense 69/91 - 7
2-141130587-G-T c.10758C>A p.S3586R Missense 69/91 - 8
2-141130589-T-G c.10756A>C p.S3586R Missense 69/91 - 15
2-141130588-C-A c.10757G>T p.S3586I Missense 69/91 - 1
2-141130588-C-G c.10757G>C p.S3586T Missense 69/91 - 2
2-141130588-C-T c.10757G>A p.S3586N Missense 69/91 - 1
2-141130589-T-C c.10756A>G p.S3586G Missense 69/91 - 1
2-141130591-T-C c.10754A>G p.K3585R Missense 69/91 - 1
2-141130592-T-G c.10753A>C p.K3585Q Missense 69/91 - 1
2-141130594-T-C c.10751A>G p.E3584G Missense 69/91 - 2
2-141130595-C-G c.10750G>C p.E3584Q Missense 69/91 - 1
2-141130598-C-A c.10747G>T p.D3583Y Missense 69/91 - 2
2-141130598-C-T c.10747G>A p.D3583N Missense 69/91 - 1
2-141130601-C-T c.10744G>A p.E3582K Missense 69/91 - 8
2-141130602-C-A c.10743G>T p.G3581= Synonymous 69/91 - 2
2-141130602-C-CA c.10742_10743insT p.E3582Gfs*3 Frameshift 69/91 - 1
2-141130602-C-G c.10743G>C p.G3581= Synonymous 69/91 - 2
2-141130602-C-T c.10743G>A p.G3581= Synonymous 69/91 - 3
2-141130603-C-A c.10742G>T p.G3581V Missense 69/91 - 1
2-141130604-C-CT c.10740_10741insA p.G3581Rfs*4 Frameshift 69/91 - 1
2-141130604-C-G c.10741G>C p.G3581R Missense 69/91 - 2
2-141130604-C-T c.10741G>A p.G3581R Missense 69/91 - 6
2-141130609-T-C c.10736A>G p.K3579R Missense 69/91 - 1
2-141130611-G-A c.10734C>T p.C3578= Synonymous 69/91 - 1
2-141130611-G-T c.10734C>A p.C3578* Nonsense 69/91 - 3
2-141130612-C-G c.10733G>C p.C3578S Missense 69/91 - 2
2-141130612-C-T c.10733G>A p.C3578Y Missense 69/91 - 2
2-141130615-T-C c.10730A>G p.D3577G Missense 69/91 - 1
2-141130616-C-T c.10729G>A p.D3577N Missense 69/91 - 1
2-141130618-T-C c.10727A>G p.E3576G Missense 69/91 - 1
2-141130619-C-T c.10726G>A p.E3576K Missense 69/91 - 1
2-141130622-G-A c.10723C>T p.H3575Y Missense 69/91 - 1
2-141130622-G-T c.10723C>A p.H3575N Missense 69/91 - 3
2-141130623-G-A c.10722C>T p.G3574= Synonymous 69/91 - 1
2-141130623-G-C c.10722C>G p.G3574= Synonymous 69/91 - 1
2-141130623-G-T c.10722C>A p.G3574= Synonymous 69/91 - 3
2-141130628-C-A c.10717G>T p.D3573Y Missense 69/91 - 1
2-141130628-C-T c.10717G>A p.D3573N Missense 69/91 - 3
2-141130629-A-G c.10716T>C p.C3572= Synonymous 69/91 - 1
2-141130630-C-T c.10715G>A p.C3572Y Missense 69/91 - 6
2-141130631-A-G c.10714T>C p.C3572R Missense 69/91 - 1
2-141130635-C-A c.10710G>T p.W3570C Missense 69/91 - 1
2-141130635-C-T c.10710G>A p.W3570* Nonsense 69/91 - 11
2-141130636-C-T c.10709G>A p.W3570* Nonsense 69/91 - 5
2-141130639-T-G c.10706A>C p.K3569T Missense 69/91 - 1
2-141130640-T-C c.10705A>G p.K3569E Missense 69/91 - 1
2-141130642-G-T c.10703C>A p.A3568E Missense 69/91 - 4
2-141130645-G-T c.10700C>A p.P3567Q Missense 69/91 - 3
2-141130646-G-C c.10699C>G p.P3567A Missense 69/91 - 2
2-141130647-T-C c.10698A>G p.I3566M Missense 69/91 - 6
2-141130648-A-G c.10697T>C p.I3566T Missense 69/91 - 1
2-141130648-A-T c.10697T>A p.I3566K Missense 69/91 - 1
2-141130650-A-G c.10695T>C p.C3565= Synonymous 69/91 - 3
2-141130651-C-A c.10694G>T p.C3565F Missense 69/91 - 1
2-141130651-C-T c.10694G>A p.C3565Y Missense 69/91 - 7
2-141130652-A-C c.10693T>G p.C3565G Missense 69/91 - 1
2-141130653-C-A c.10692G>T p.Q3564H Missense 69/91 - 1
2-141130654-T-C c.10691A>G p.Q3564R Missense 69/91 - 1
2-141130656-A-C c.10689T>G p.G3563= Synonymous 69/91 - 2
2-141130656-A-G c.10689T>C p.G3563= Synonymous 69/91 - 1
2-141130656-A-T c.10689T>A p.G3563= Synonymous 69/91 - 1
2-141130658-C-A c.10687G>T p.G3563C Missense 69/91 - 7
2-141130658-C-T c.10687G>A p.G3563S Missense 69/91 - 2
2-141130659-A-G c.10686T>C p.N3562= Synonymous 69/91 - 1
2-141130663-G-C c.10682C>G p.S3561C Missense 69/91 - 1
2-141130669-C-T c.10676G>A p.R3559Q Missense 69/91 - 7
2-141130670-G-A c.10675C>T p.R3559W Missense 69/91 - 4
2-141130675-T-A c.10670A>T p.Q3557L Missense 69/91 - 4
2-141130675-T-C c.10670A>G p.Q3557R Missense 69/91 - 1
2-141130675-T-G c.10670A>C p.Q3557P Missense 69/91 - 1
2-141130676-G-A c.10669C>T p.Q3557* Nonsense 69/91 - 1
2-141130679-C-T c.10666G>A p.D3556N Missense 69/91 - 2
2-141130680-T-A c.10665A>T p.K3555N Missense 69/91 - 2
2-141130680-T-G c.10665A>C p.K3555N Missense 69/91 - 2
2-141130684-G-A c.10661C>T p.S3554F Missense 69/91 - 2
2-141130684-G-T c.10661C>A p.S3554Y Missense 69/91 - 1
2-141130685-A-G c.10660T>C p.S3554P Missense 69/91 - 1
2-141130687-C-A c.10658G>T p.C3553F Missense 69/91 - 2
2-141130687-C-G c.10658G>C p.C3553S Missense 69/91 - 2
2-141130688-A-T c.10657T>A p.C3553S Missense 69/91 - 2
2-141130690-C-A c.10655G>T p.S3552I Missense 69/91 - 2
2-141130690-C-T c.10655G>A p.S3552N Missense 69/91 - 2
2-141130691-T-A c.10654A>T p.S3552C Missense 69/91 - 2
2-141130694-T-A c.10651A>T p.T3551S Missense 69/91 - 3
2-141130695-C-A c.10650G>T p.E3550D Missense 69/91 - 1
2-141130695-C-T c.10650G>A p.E3550= Synonymous 69/91 - 6
2-141130696-T-C c.10649A>G p.E3550G Missense 69/91 - 1
2-141130697-C-A c.10648G>T p.E3550* Nonsense 69/91 - 2
2-141130697-C-T c.10648G>A p.E3550K Missense 69/91 - 1
2-141130698-A-T c.10647T>A p.C3549* Nonsense 69/91 - 1
2-141130699-C-A c.10646G>T p.C3549F Missense 69/91 - 1
2-141130700-A-T c.10645T>A p.C3549S Missense 69/91 - 1
2-141130705-C-A c.10640G>T p.R3547I Missense 69/91 - 1
2-141130705-C-T c.10640G>A p.R3547K Missense 69/91 - 3
2-141130706-T-A c.10639A>T p.R3547* Nonsense 69/91 - 4
2-141130706-T-C c.10639A>G p.R3547G Missense 69/91 - 2
2-141133391-GCC-G c.10638+2357_10638+2358del - IntronicDeletion - 68/90 1
2-141135434-A-G c.10638+315T>C - IntronicSNV - 68/90 1
2-141135744-C-A c.10638+5G>T - IntronicSNV - 68/90 1
2-141135749-C-A c.10638G>T p.E3546D Missense 68/91 - 1
2-141135749-C-G c.10638G>C p.E3546D Missense 68/91 - 3
2-141135750-T-G c.10637A>C p.E3546A Missense 68/91 - 1
2-141135753-T-A c.10634A>T p.D3545V Missense 68/91 - 1
2-141135753-T-G c.10634A>C p.D3545A Missense 68/91 - 1
2-141135755-A-C c.10632T>G p.S3544= Synonymous 68/91 - 1
2-141135759-C-A c.10628G>T p.G3543V Missense 68/91 - 1
2-141135759-C-T c.10628G>A p.G3543D Missense 68/91 - 1
2-141135760-C-A c.10627G>T p.G3543C Missense 68/91 - 4
2-141135761-A-C c.10626T>G p.D3542E Missense 68/91 - 1
2-141135761-A-T c.10626T>A p.D3542E Missense 68/91 - 1
2-141135763-C-T c.10624G>A p.D3542N Missense 68/91 - 1
2-141135764-T-A c.10623A>T p.A3541= Synonymous 68/91 - 1
2-141135765-G-A c.10622C>T p.A3541V Missense 68/91 - 3
2-141135766-C-A c.10621G>T p.A3541S Missense 68/91 - 1
2-141135766-C-T c.10621G>A p.A3541T Missense 68/91 - 5
2-141135768-C-A c.10619G>T p.C3540F Missense 68/91 - 2
2-141135768-C-G c.10619G>C p.C3540S Missense 68/91 - 3
2-141135768-C-T c.10619G>A p.C3540Y Missense 68/91 - 1
2-141135770-G-T c.10617C>A p.D3539E Missense 68/91 - 1
2-141135772-C-A c.10615G>T p.D3539Y Missense 68/91 - 1
2-141135773-A-G c.10614T>C p.F3538= Synonymous 68/91 - 1
2-141135774-A-T c.10613T>A p.F3538Y Missense 68/91 - 1
2-141135772-CA-C c.10614del p.F3538Lfs*74 Frameshift 68/91 - 1
2-141135778-C-G c.10609G>C p.D3537H Missense 68/91 - 1
2-141135778-C-T c.10609G>A p.D3537N Missense 68/91 - 2
2-141135779-T-C c.10608A>G p.G3536= Synonymous 68/91 - 1
2-141135780-C-G c.10607G>C p.G3536A Missense 68/91 - 2
2-141135780-C-T c.10607G>A p.G3536E Missense 68/91 - 7
2-141135781-C-A c.10606G>T p.G3536* Nonsense 68/91 - 1
2-141135781-C-T c.10606G>A p.G3536R Missense 68/91 - 1
2-141135782-A-T c.10605T>A p.D3535E Missense 68/91 - 2
2-141135788-C-T c.10599G>A p.W3533* Nonsense 68/91 - 3
2-141135789-C-A c.10598G>T p.W3533L Missense 68/91 - 6
2-141135789-C-T c.10598G>A p.W3533* Nonsense 68/91 - 2
2-141135790-A-G c.10597T>C p.W3533R Missense 68/91 - 3
2-141135790-A-T c.10597T>A p.W3533R Missense 68/91 - 1
2-141135791-A-C c.10596T>G p.F3532L Missense 68/91 - 1
2-141135793-A-T c.10594T>A p.F3532I Missense 68/91 - 1
2-141135794-C-A c.10593G>T p.R3531S Missense 68/91 - 1
2-141135801-G-A c.10586C>T p.S3529F Missense 68/91 - 5
2-141135803-A-T c.10584T>A p.V3528= Synonymous 68/91 - 1
2-141135804-A-T c.10583T>A p.V3528D Missense 68/91 - 2
2-141135806-A-C c.10581T>G p.C3527W Missense 68/91 - 3
2-141135807-C-T c.10580G>A p.C3527Y Missense 68/91 - 2
2-141135811-C-T c.10576G>A p.D3526N Missense 68/91 - 5
2-141135813-C-G c.10574G>C p.G3525A Missense 68/91 - 5
2-141135814-C-A c.10573G>T p.G3525W Missense 68/91 - 1
2-141135815-CA-C c.10572del p.N3524Kfs*88 Frameshift 68/91 - 1
2-141135816-T-G c.10571A>C p.N3524T Missense 68/91 - 1
2-141135819-G-T c.10568C>A p.A3523D Missense 68/91 - 2
2-141135820-C-A c.10567G>T p.A3523S Missense 68/91 - 1
2-141135820-C-G c.10567G>C p.A3523P Missense 68/91 - 1
2-141135822-C-A c.10565G>T p.C3522F Missense 68/91 - 5
2-141135822-C-T c.10565G>A p.C3522Y Missense 68/91 - 1
2-141135822-C-G c.10565G>C p.C3522S Missense 68/91 - 1
2-141135823-A-T c.10564T>A p.C3522S Missense 68/91 - 1
2-141135824-G-A c.10563C>T p.L3521= Synonymous 68/91 - 1
2-141135827-G-A c.10560C>T p.F3520= Synonymous 68/91 - 4
2-141135830-A-AGTGGCGTGACCGGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAAGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGTC c.10556_10557insGACTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGTCACGCCAC p.D3519delinsETLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHAT MultiAAMissense 68/91 - 1
2-141135829-AATCTTTCAATGTAC-A c.10544_10557del p.C3515Ffs*16 Frameshift 68/91 - 1
2-141135832-C-A c.10555G>T p.D3519Y Missense 68/91 - 1
2-141135832-C-T c.10555G>A p.D3519N Missense 68/91 - 1
2-141135836-C-A c.10551G>T p.L3517F Missense 68/91 - 3
2-141135836-C-G c.10551G>C p.L3517F Missense 68/91 - 3
2-141135839-T-C c.10548A>G p.T3516= Synonymous 68/91 - 1
2-141135846-G-A c.10541C>T p.T3514I Missense 68/91 - 2
2-141135846-G-T c.10541C>A p.T3514K Missense 68/91 - 3
2-141135848-C-A c.10539G>T p.Q3513H Missense 68/91 - 3
2-141135848-C-G c.10539G>C p.Q3513H Missense 68/91 - 2
2-141135848-C-T c.10539G>A p.Q3513= Synonymous 68/91 - 4
2-141135852-G-T c.10535C>A p.P3512Q Missense 68/91 - 1
2-141135854-C-A c.10533G>T p.K3511N Missense 68/91 - 1
2-141135854-C-T c.10533G>A p.K3511= Synonymous 68/91 - 3
2-141143453-GTTAC-G c.10531+5_10531+8del - IntronicDeletion 67/91 67/90 1
2-141143461-C-A c.10531+1G>T - IntronicSNV - 67/90 1
2-141143461-C-T c.10531+1G>A - IntronicSNV - 67/90 1
2-141143462-T-C c.10531A>G p.K3511E Missense 67/91 - 1
2-141143466-G-C c.10527C>G p.N3509K Missense 67/91 - 1
2-141143466-G-T c.10527C>A p.N3509K Missense 67/91 - 3
2-141143471-C-A c.10522G>T p.E3508* Nonsense 67/91 - 2
2-141143471-C-G c.10522G>C p.E3508Q Missense 67/91 - 3
2-141143471-C-T c.10522G>A p.E3508K Missense 67/91 - 2
2-141143473-T-G c.10520A>C p.E3507A Missense 67/91 - 1
2-141143474-C-A c.10519G>T p.E3507* Nonsense 67/91 - 1
2-141143474-C-T c.10519G>A p.E3507K Missense 67/91 - 5
2-141143477-C-A c.10516G>T p.D3506Y Missense 67/91 - 1
2-141143479-G-A c.10514C>T p.S3505L Missense 67/91 - 1
2-141143479-G-T c.10514C>A p.S3505* Nonsense 67/91 - 1
2-141143482-T-G c.10511A>C p.N3504T Missense 67/91 - 1
2-141143483-T-C c.10510A>G p.N3504D Missense 67/91 - 3
2-141143485-T-A c.10508A>T p.D3503V Missense 67/91 - 2
2-141143486-C-T c.10507G>A p.D3503N Missense 67/91 - 1
2-141143489-T-C c.10504A>G p.S3502G Missense 67/91 - 1
2-141143490-G-A c.10503C>T p.C3501= Synonymous 67/91 - 2
2-141143491-C-T c.10502G>A p.C3501Y Missense 67/91 - 1
2-141143493-G-A c.10500C>T p.D3500= Synonymous 67/91 - 5
2-141143494-T-A c.10499A>T p.D3500V Missense 67/91 - 1
2-141143499-T-A c.10494A>T p.Q3498H Missense 67/91 - 1
2-141143499-T-G c.10494A>C p.Q3498H Missense 67/91 - 3
2-141143501-G-T c.10492C>A p.Q3498K Missense 67/91 - 1
2-141143502-G-T c.10491C>A p.S3497R Missense 67/91 - 2
2-141143503-C-T c.10490G>A p.S3497N Missense 67/91 - 1
2-141143505-A-C c.10488T>G p.D3496E Missense 67/91 - 2
2-141143506-T-C c.10487A>G p.D3496G Missense 67/91 - 1
2-141143508-A-T c.10485T>A p.C3495* Nonsense 67/91 - 1
2-141143511-C-G c.10482G>C p.R3494= Synonymous 67/91 - 3
2-141143512-C-A c.10481G>T p.R3494L Missense 67/91 - 8
2-141143512-C-T c.10481G>A p.R3494Q Missense 67/91 - 2
2-141143511-C-A c.10482G>T p.R3494= Synonymous 67/91 - 3
2-141143511-C-T c.10482G>A p.R3494= Synonymous 67/91 - 3
2-141143513-G-A c.10480C>T p.R3494W Missense 67/91 - 3
2-141143513-G-T c.10480C>A p.R3494= Synonymous 67/91 - 4
2-141143514-C-A c.10479G>T p.W3493C Missense 67/91 - 1
2-141143515-C-G c.10478G>C p.W3493S Missense 67/91 - 1
2-141143519-G-A c.10474C>T p.H3492Y Missense 67/91 - 6
2-141143522-C-A c.10471G>T p.D3491Y Missense 67/91 - 4
2-141143522-C-G c.10471G>C p.D3491H Missense 67/91 - 1
2-141143522-C-T c.10471G>A p.D3491N Missense 67/91 - 15
2-141143523-G-A c.10470C>T p.P3490= Synonymous 67/91 - 2
2-141143523-G-C c.10470C>G p.P3490= Synonymous 67/91 - 1
2-141143523-G-T c.10470C>A p.P3490= Synonymous 67/91 - 2
2-141143524-G-A c.10469C>T p.P3490L Missense 67/91 - 1
2-141143524-G-C c.10469C>G p.P3490R Missense 67/91 - 1
2-141143522-C-CG c.10470dup p.D3491Rfs*6 Frameshift 67/91 - 1
2-141143525-G-A c.10468C>T p.P3490S Missense 67/91 - 3
2-141143528-T-C c.10465A>G p.I3489V Missense 67/91 - 1
2-141143529-A-G c.10464T>C p.C3488= Synonymous 67/91 - 1
2-141143527-ATACAGTTGTTGTTTT-A c.10451_10465del p.K3484_C3488del InFrameDeletion 67/91 - 1
2-141143532-G-C c.10461C>G p.N3487K Missense 67/91 - 2
2-141143532-G-T c.10461C>A p.N3487K Missense 67/91 - 2
2-141143533-T-A c.10460A>T p.N3487I Missense 67/91 - 1
2-141143533-T-C c.10460A>G p.N3487S Missense 67/91 - 3
2-141143535-G-T c.10458C>A p.N3486K Missense 67/91 - 2
2-141143539-T-C c.10454A>G p.N3485S Missense 67/91 - 1
2-141143540-T-C c.10453A>G p.N3485D Missense 67/91 - 1
2-141143538-GT-G c.10454del p.N3485Tfs*33 Frameshift 67/91 - 1
2-141143547-C-A c.10446G>T p.Q3482H Missense 67/91 - 3
2-141143547-C-G c.10446G>C p.Q3482H Missense 67/91 - 1
2-141143549-G-A c.10444C>T p.Q3482* Nonsense 67/91 - 9
2-141143550-G-A c.10443C>T p.F3481= Synonymous 67/91 - 3
2-141143555-C-A c.10438G>T p.E3480* Nonsense 67/91 - 2
2-141143555-C-T c.10438G>A p.E3480K Missense 67/91 - 5
2-141143557-T-C c.10436A>G p.H3479R Missense 67/91 - 4
2-141143559-A-C c.10434T>G p.P3478= Synonymous 67/91 - 3
2-141143559-A-G c.10434T>C p.P3478= Synonymous 67/91 - 4
2-141143559-A-T c.10434T>A p.P3478= Synonymous 67/91 - 3
2-141143560-G-T c.10433C>A p.P3478H Missense 67/91 - 5
2-141143561-G-C c.10432C>G p.P3478A Missense 67/91 - 1
2-141143561-G-T c.10432C>A p.P3478T Missense 67/91 - 1
2-141143563-C-A c.10430G>T p.G3477V Missense 67/91 - 8
2-141143563-C-G c.10430G>C p.G3477A Missense 67/91 - 1
2-141143563-C-T c.10430G>A p.G3477E Missense 67/91 - 1
2-141143564-C-G c.10429G>C p.G3477R Missense 67/91 - 1
2-141143564-C-T c.10429G>A p.G3477R Missense 67/91 - 1
2-141143569-G-A c.10424C>T p.T3475I Missense 67/91 - 6
2-141143569-G-C c.10424C>G p.T3475S Missense 67/91 - 1
2-141143570-T-A c.10423A>T p.T3475S Missense 67/91 - 1
2-141143571-C-A c.10422G>T p.K3474N Missense 67/91 - 5
2-141143571-C-G c.10422G>C p.K3474N Missense 67/91 - 3
2-141143571-C-T c.10422G>A p.K3474= Synonymous 67/91 - 1
2-141143574-T-C c.10419A>G p.K3473= Synonymous 67/91 - 1
2-141143575-T-G c.10418A>C p.K3473T Missense 67/91 - 1
2-141143571-C-CT c.10421dup p.T3475Dfs*6 Frameshift 67/91 - 1
2-141143576-T-C c.10417A>G p.K3473E Missense 67/91 - 5
2-141143578-T-A c.10415A>T p.D3472V Missense 67/91 - 1
2-141143578-T-C c.10415A>G p.D3472G Missense 67/91 - 1
2-141143578-T-G c.10415A>C p.D3472A Missense 67/91 - 1
2-141145601-G-A c.10415-2023C>T - IntronicSNV - 66/90 4
2-141151319-T-G c.10415-7741A>C - IntronicSNV - 66/90 1
2-141154078-C-A c.10415-10500G>T - IntronicSNV - 66/90 1
2-141156836-C-T c.10415-13258G>A - IntronicSNV - 66/90 1
2-141156884-A-C c.10415-13306T>G - IntronicSNV - 66/90 1
2-141157971-G-A c.10415-14393C>T - IntronicSNV - 66/90 1
2-141166435-T-C c.10415-22857A>G - IntronicSNV - 66/90 1
2-141166435-T-G c.10415-22857A>C - IntronicSNV - 66/90 1
2-141177795-TA-T c.10414+22277del - IntronicDeletion - 66/90 1
2-141179868-G-C c.10414+20205C>G - IntronicSNV - 66/90 1
2-141181251-T-C c.10414+18822A>G - IntronicSNV - 66/90 1
2-141182234-G-C c.10414+17839C>G - IntronicSNV - 66/90 1
2-141187255-A-G c.10414+12818T>C - IntronicSNV - 66/90 1
2-141193028-A-C c.10414+7045T>G - IntronicSNV - 66/90 1
2-141193558-T-A c.10414+6515A>T - IntronicSNV - 66/90 1
2-141193558-T-G c.10414+6515A>C - IntronicSNV - 66/90 1
2-141197460-T-A c.10414+2613A>T - IntronicSNV - 66/90 1
2-141197502-T-C c.10414+2571A>G - IntronicSNV - 66/90 1
2-141199636-C-G c.10414+437G>C - IntronicSNV - 66/90 1
2-141199652-A-T c.10414+421T>A - IntronicSNV - 66/90 1
2-141199904-C-T c.10414+169G>A - IntronicSNV - 66/90 1
2-141199944-C-A c.10414+129G>T - IntronicSNV - 66/90 1
2-141200068-C-G c.10414+5G>C - IntronicSNV - 66/90 1
2-141200072-C-T c.10414+1G>A - IntronicSNV - 66/90 3
2-141200073-C-T c.10414G>A p.D3472N Missense 66/91 - 10
2-141200074-G-A c.10413C>T p.C3471= Synonymous 66/91 - 1
2-141200075-C-T c.10412G>A p.C3471Y Missense 66/91 - 1
2-141200078-T-C c.10409A>G p.N3470S Missense 66/91 - 1
2-141200081-G-T c.10406C>A p.A3469D Missense 66/91 - 3
2-141200082-C-A c.10405G>T p.A3469S Missense 66/91 - 1
2-141200082-C-T c.10405G>A p.A3469T Missense 66/91 - 1
2-141200085-C-T c.10402G>A p.E3468K Missense 66/91 - 2
2-141200087-T-C c.10400A>G p.D3467G Missense 66/91 - 1
2-141200088-C-T c.10399G>A p.D3467N Missense 66/91 - 2
2-141200090-G-A c.10397C>T p.S3466L Missense 66/91 - 7
2-141200095-A-C c.10392T>G p.D3464E Missense 66/91 - 1
2-141200095-A-T c.10392T>A p.D3464E Missense 66/91 - 1
2-141200098-T-C c.10389A>G p.A3463= Synonymous 66/91 - 1
2-141200099-G-A c.10388C>T p.A3463V Missense 66/91 - 1
2-141200100-C-A c.10387G>T p.A3463S Missense 66/91 - 1
2-141200100-C-AA c.10387delinsTT p.A3463Ffs*11 Frameshift 66/91 - 1
2-141200103-A-G c.10384T>C p.C3462R Missense 66/91 - 3
2-141200106-C-A c.10381G>T p.D3461Y Missense 66/91 - 3
2-141200106-C-G c.10381G>C p.D3461H Missense 66/91 - 1
2-141200107-T-A c.10380A>T p.P3460= Synonymous 66/91 - 3
2-141200108-G-A c.10379C>T p.P3460L Missense 66/91 - 1
2-141200109-G-A c.10378C>T p.P3460S Missense 66/91 - 6
2-141200112-C-T c.10375G>A p.D3459N Missense 66/91 - 1
2-141200113-C-A c.10374G>T p.E3458D Missense 66/91 - 2
2-141200113-C-G c.10374G>C p.E3458D Missense 66/91 - 2
2-141200115-C-T c.10372G>A p.E3458K Missense 66/91 - 5
2-141200116-G-A c.10371C>T p.D3457= Synonymous 66/91 - 1
2-141200116-G-C c.10371C>G p.D3457E Missense 66/91 - 1
2-141200118-C-T c.10369G>A p.D3457N Missense 66/91 - 1
2-141200120-C-G c.10367G>C p.C3456S Missense 66/91 - 2
2-141200121-A-T c.10366T>A p.C3456S Missense 66/91 - 1
2-141200122-A-T c.10365T>A p.V3455= Synonymous 66/91 - 2
2-141200124-C-A c.10363G>T p.V3455F Missense 66/91 - 2
2-141200128-C-A c.10359G>T p.L3453= Synonymous 66/91 - 1
2-141200130-G-A c.10357C>T p.L3453= Synonymous 66/91 - 1
2-141200136-A-T c.10351T>A p.S3451T Missense 66/91 - 1
2-141200139-T-G c.10348A>C p.I3450L Missense 66/91 - 1
2-141200140-G-A c.10347C>T p.C3449= Synonymous 66/91 - 1
2-141200140-G-T c.10347C>A p.C3449* Nonsense 66/91 - 1
2-141200145-G-A c.10342C>T p.H3448Y Missense 66/91 - 4
2-141200145-G-T c.10342C>A p.H3448N Missense 66/91 - 1
2-141200146-C-A c.10341G>T p.K3447N Missense 66/91 - 1
2-141200147-T-C c.10340A>G p.K3447R Missense 66/91 - 1
2-141200147-T-G c.10340A>C p.K3447T Missense 66/91 - 1
2-141200149-C-A c.10338G>T p.T3446= Synonymous 66/91 - 4
2-141200149-C-G c.10338G>C p.T3446= Synonymous 66/91 - 2
2-141200149-C-T c.10338G>A p.T3446= Synonymous 66/91 - 4
2-141200150-G-A c.10337C>T p.T3446M Missense 66/91 - 7
2-141200150-GTAGTCTTACACTGGAAA-G c.10320_10336del p.F3441Efs*11 Frameshift 66/91 - 1
2-141200159-C-T c.10328G>A p.C3443Y Missense 66/91 - 1
2-141200163-G-A c.10324C>T p.Q3442* Nonsense 66/91 - 4
2-141200166-A-T c.10321T>A p.F3441I Missense 66/91 - 2
2-141200167-A-C c.10320T>G p.Y3440* Nonsense 66/91 - 1
2-141200167-A-T c.10320T>A p.Y3440* Nonsense 66/91 - 1
2-141200168-T-G c.10319A>C p.Y3440S Missense 66/91 - 2
2-141200172-C-A c.10315G>T p.D3439Y Missense 66/91 - 10
2-141200173-T-A c.10314A>T p.P3438= Synonymous 66/91 - 1
2-141200174-G-A c.10313C>T p.P3438L Missense 66/91 - 1
2-141200174-G-T c.10313C>A p.P3438Q Missense 66/91 - 2
2-141200175-G-T c.10312C>A p.P3438T Missense 66/91 - 2
2-141200177-G-T c.10310C>A p.S3437Y Missense 66/91 - 1
2-141200180-C-T c.10307G>A p.C3436Y Missense 66/91 - 1
2-141200182-G-C c.10305C>G p.S3435R Missense 66/91 - 1
2-141200182-G-T c.10305C>A p.S3435R Missense 66/91 - 2
2-141200184-T-G c.10303A>C p.S3435R Missense 66/91 - 1
2-141200185-GT-G c.10301del p.N3434Tfs*84 Frameshift 66/91 - 3
2-141200189-T-C c.10298A>G p.E3433G Missense 66/91 - 1
2-141200189-T-G c.10298A>C p.E3433A Missense 66/91 - 1
2-141200190-C-T c.10297G>A p.E3433K Missense 66/91 - 3
2-141201763-T-C c.10294+136A>G - IntronicSNV - 65/90 1
2-141201880-G-T c.10294+19C>A - IntronicSNV - 65/90 1
2-141201890-G-T c.10294+9C>A - IntronicSNV - 65/90 1
2-141201896-T-G c.10294+3A>C - IntronicSNV - 65/90 1
2-141201897-A-C c.10294+2T>G - IntronicSNV - 65/90 1
2-141201898-C-A c.10294+1G>T - IntronicSNV - 65/90 1
2-141201898-C-G c.10294+1G>C - IntronicSNV - 65/90 1
2-141201899-G-A c.10294C>T p.P3432S Missense 65/91 - 5
2-141201901-C-A c.10292G>T p.C3431F Missense 65/91 - 1
2-141201902-A-C c.10291T>G p.C3431G Missense 65/91 - 1
2-141201903-G-A c.10290C>T p.D3430= Synonymous 65/91 - 1
2-141201904-T-C c.10289A>G p.D3430G Missense 65/91 - 5
2-141201906-T-A c.10287A>T p.R3429S Missense 65/91 - 1
2-141201906-TCT-CCA c.10285_10287delinsTGG p.R3429W Missense 65/91 - 1
2-141201906-T-G c.10287A>C p.R3429S Missense 65/91 - 1
2-141201907-C-A c.10286G>T p.R3429I Missense 65/91 - 1
2-141201907-C-T c.10286G>A p.R3429K Missense 65/91 - 5
2-141201911-C-A c.10282G>T p.E3428* Nonsense 65/91 - 2
2-141201911-C-T c.10282G>A p.E3428K Missense 65/91 - 4
2-141201914-C-T c.10279G>A p.D3427N Missense 65/91 - 1
2-141201916-T-A c.10277A>T p.E3426V Missense 65/91 - 4
2-141201917-C-A c.10276G>T p.E3426* Nonsense 65/91 - 2
2-141201920-C-T c.10273G>A p.E3425K Missense 65/91 - 2
2-141201923-C-G c.10270G>C p.D3424H Missense 65/91 - 1
2-141201926-C-A c.10267G>T p.G3423C Missense 65/91 - 3
2-141201926-C-G c.10267G>C p.G3423R Missense 65/91 - 1
2-141201927-A-T c.10266T>A p.C3422* Nonsense 65/91 - 2
2-141201932-C-T c.10261G>A p.D3421N Missense 65/91 - 1
2-141201935-C-T c.10258G>A p.D3420N Missense 65/91 - 1
2-141201935-TC-T c.10258del p.D3420Mfs*98 Frameshift 65/91 - 2
2-141201938-G-A c.10255C>T p.Q3419* Nonsense 65/91 - 1
2-141201938-G-T c.10255C>A p.Q3419K Missense 65/91 - 1
2-141201939-C-A c.10254G>T p.G3418= Synonymous 65/91 - 2
2-141201939-C-G c.10254G>C p.G3418= Synonymous 65/91 - 2
2-141201939-C-T c.10254G>A p.G3418= Synonymous 65/91 - 2
2-141201941-C-A c.10252G>T p.G3418W Missense 65/91 - 1
2-141201942-A-C c.10251T>G p.N3417K Missense 65/91 - 2
2-141201942-A-T c.10251T>A p.N3417K Missense 65/91 - 1
2-141201942-AT-TA c.10250_10251delinsTA p.N3417I Missense 65/91 - 1
2-141201944-T-C c.10249A>G p.N3417D Missense 65/91 - 1
2-141201946-C-A c.10247G>T p.C3416F Missense 65/91 - 1
2-141201946-C-G c.10247G>C p.C3416S Missense 65/91 - 1
2-141201948-T-G c.10245A>C p.R3415S Missense 65/91 - 3
2-141201949-C-A c.10244G>T p.R3415I Missense 65/91 - 2
2-141201949-C-G c.10244G>C p.R3415T Missense 65/91 - 1
2-141201951-T-C c.10242A>G p.L3414= Synonymous 65/91 - 2
2-141201953-A-G c.10240T>C p.L3414= Synonymous 65/91 - 5
2-141201956-T-C c.10237A>G p.N3413D Missense 65/91 - 5
2-141201959-C-G c.10234G>C p.V3412L Missense 65/91 - 1
2-141201960-T-A c.10233A>T p.P3411= Synonymous 65/91 - 1
2-141201961-G-A c.10232C>T p.P3411L Missense 65/91 - 6
2-141201963-G-A c.10230C>T p.I3410= Synonymous 65/91 - 3
2-141201963-G-C c.10230C>G p.I3410M Missense 65/91 - 1
2-141201965-T-C c.10228A>G p.I3410V Missense 65/91 - 1
2-141201966-A-T c.10227T>A p.C3409* Nonsense 65/91 - 1
2-141201967-C-T c.10226G>A p.C3409Y Missense 65/91 - 3
2-141201969-T-G c.10224A>C p.K3408N Missense 65/91 - 2
2-141201971-T-A c.10222A>T p.K3408* Nonsense 65/91 - 1
2-141201972-C-T c.10221G>A p.Q3407= Synonymous 65/91 - 1
2-141201978-C-A c.10215G>T p.K3405N Missense 65/91 - 4
2-141201978-C-G c.10215G>C p.K3405N Missense 65/91 - 2
2-141201980-T-A c.10213A>T p.K3405* Nonsense 65/91 - 1
2-141201980-T-C c.10213A>G p.K3405E Missense 65/91 - 1
2-141201980-T-G c.10213A>C p.K3405Q Missense 65/91 - 1
2-141201982-G-A c.10211C>T p.T3404I Missense 65/91 - 5
2-141201982-G-C c.10211C>G p.T3404S Missense 65/91 - 1
2-141201982-GT-AC c.10210_10211inv p.T3404V Missense 65/91 - 1
2-141201983-T-A c.10210A>T p.T3404S Missense 65/91 - 3
2-141201984-A-T c.10209T>A p.C3403* Nonsense 65/91 - 1
2-141201990-G-A c.10203C>T p.F3401= Synonymous 65/91 - 3
2-141201990-G-C c.10203C>G p.F3401L Missense 65/91 - 2
2-141201993-T-A c.10200A>T p.Q3400H Missense 65/91 - 3
2-141201993-T-G c.10200A>C p.Q3400H Missense 65/91 - 1
2-141201994-T-C c.10199A>G p.Q3400R Missense 65/91 - 1
2-141201997-C-A c.10196G>T p.G3399V Missense 65/91 - 1
2-141201998-C-A c.10195G>T p.G3399C Missense 65/91 - 6
2-141202000-G-C c.10193C>G p.S3398* Nonsense 65/91 - 2
2-141202000-G-T c.10193C>A p.S3398* Nonsense 65/91 - 2
2-141202003-A-C c.10190T>G p.L3397R Missense 65/91 - 1
2-141202005-G-T c.10188C>A p.C3396* Nonsense 65/91 - 1
2-141202006-C-A c.10187G>T p.C3396F Missense 65/91 - 1
2-141202006-C-G c.10187G>C p.C3396S Missense 65/91 - 3
2-141202007-A-T c.10186T>A p.C3396S Missense 65/91 - 1
2-141202011-A-G c.10182T>C p.H3394= Synonymous 65/91 - 1
2-141202016-T-TACTTAGACTGTAAACTGCATCACAAATCCTAGACA c.10176_10177insTGTCTAGGATTTGTGATGCAGTTTACAGTCTAAGT p.T3393Cfs*11 SpliceAcceptorInsertion 65/91 - 1
2-141202129-T-A c.10174+3A>T - IntronicSNV - 64/90 1
2-141202131-C-A c.10174+1G>T - IntronicSNV - 64/90 1
2-141202132-C-A c.10174G>T p.D3392Y Missense 64/91 - 1
2-141202141-G-A c.10165C>T p.L3389F Missense 64/91 - 1
2-141202142-T-A c.10164A>T p.E3388D Missense 64/91 - 1
2-141202142-T-G c.10164A>C p.E3388D Missense 64/91 - 3
2-141202144-C-T c.10162G>A p.E3388K Missense 64/91 - 2
2-141202147-C-T c.10159G>A p.D3387N Missense 64/91 - 2
2-141202148-A-C c.10158T>G p.S3386= Synonymous 64/91 - 3
2-141202148-A-G c.10158T>C p.S3386= Synonymous 64/91 - 4
2-141202148-A-T c.10158T>A p.S3386= Synonymous 64/91 - 3
2-141202153-T-G c.10153A>C p.N3385H Missense 64/91 - 2
2-141202154-G-T c.10152C>A p.D3384E Missense 64/91 - 1
2-141202156-C-A c.10150G>T p.D3384Y Missense 64/91 - 1
2-141202156-C-T c.10150G>A p.D3384N Missense 64/91 - 3
2-141202158-C-A c.10148G>T p.G3383V Missense 64/91 - 2
2-141202158-C-G c.10148G>C p.G3383A Missense 64/91 - 2
2-141202158-C-T c.10148G>A p.G3383E Missense 64/91 - 1
2-141202159-C-A c.10147G>T p.G3383* Nonsense 64/91 - 2
2-141202159-C-T c.10147G>A p.G3383R Missense 64/91 - 1
2-141202162-A-G c.10144T>C p.C3382R Missense 64/91 - 2
2-141202165-C-T c.10141G>A p.D3381N Missense 64/91 - 6
2-141202169-C-A c.10137G>T p.E3379D Missense 64/91 - 5
2-141202169-C-G c.10137G>C p.E3379D Missense 64/91 - 3
2-141202172-T-A c.10134A>T p.G3378= Synonymous 64/91 - 1
2-141202173-C-A c.10133G>T p.G3378V Missense 64/91 - 2
2-141202173-C-T c.10133G>A p.G3378E Missense 64/91 - 1
2-141202174-C-A c.10132G>T p.G3378* Nonsense 64/91 - 3
2-141202174-C-T c.10132G>A p.G3378R Missense 64/91 - 3
2-141202176-T-A c.10130A>T p.D3377V Missense 64/91 - 1
2-141202177-C-T c.10129G>A p.D3377N Missense 64/91 - 3
2-141202178-A-T c.10128T>A p.C3376* Nonsense 64/91 - 3
2-141202184-G-A c.10122C>T p.F3374= Synonymous 64/91 - 1
2-141202189-C-A c.10117G>T p.A3373S Missense 64/91 - 4
2-141202190-T-A c.10116A>T p.P3372= Synonymous 64/91 - 1
2-141202190-T-C c.10116A>G p.P3372= Synonymous 64/91 - 1
2-141202190-T-G c.10116A>C p.P3372= Synonymous 64/91 - 1
2-141202191-G-A c.10115C>T p.P3372L Missense 64/91 - 5
2-141202191-G-T c.10115C>A p.P3372Q Missense 64/91 - 1
2-141202192-G-A c.10114C>T p.P3372S Missense 64/91 - 1
2-141202195-G-T c.10111C>A p.L3371I Missense 64/91 - 6
2-141202197-G-T c.10109C>A p.A3370D Missense 64/91 - 1
2-141202198-C-T c.10108G>A p.A3370T Missense 64/91 - 1
2-141202200-C-G c.10106G>C p.C3369S Missense 64/91 - 1
2-141202200-C-T c.10106G>A p.C3369Y Missense 64/91 - 1
2-141202202-G-T c.10104C>A p.L3368= Synonymous 64/91 - 4
2-141202204-G-A c.10102C>T p.L3368F Missense 64/91 - 8
2-141202206-C-G c.10100G>C p.G3367A Missense 64/91 - 2
2-141202207-C-G c.10099G>C p.G3367R Missense 64/91 - 1
2-141202208-A-T c.10098T>A p.T3366= Synonymous 64/91 - 1
2-141202212-C-A c.10094G>T p.G3365V Missense 64/91 - 1
2-141202212-C-G c.10094G>C p.G3365A Missense 64/91 - 2
2-141202215-CA-GT c.10090_10091delinsAC p.C3364T Missense 64/91 - 1
2-141202217-C-A c.10089G>T p.Q3363H Missense 64/91 - 3
2-141202217-C-G c.10089G>C p.Q3363H Missense 64/91 - 1
2-141202218-T-G c.10088A>C p.Q3363P Missense 64/91 - 1
2-141202219-G-A c.10087C>T p.Q3363* Nonsense 64/91 - 7
2-141202224-C-A c.10082G>T p.R3361L Missense 64/91 - 6
2-141202224-C-T c.10082G>A p.R3361Q Missense 64/91 - 6
2-141202225-G-A c.10081C>T p.R3361* Nonsense 64/91 - 1
2-141202225-G-C c.10081C>G p.R3361G Missense 64/91 - 1
2-141202225-G-T c.10081C>A p.R3361= Synonymous 64/91 - 1
2-141202226-G-A c.10080C>T p.G3360= Synonymous 64/91 - 1
2-141202226-G-C c.10080C>G p.G3360= Synonymous 64/91 - 1
2-141202226-G-T c.10080C>A p.G3360= Synonymous 64/91 - 1
2-141202227-C-A c.10079G>T p.G3360V Missense 64/91 - 1
2-141202228-C-A c.10078G>T p.G3360C Missense 64/91 - 4
2-141202229-T-C c.10077A>G p.P3359= Synonymous 64/91 - 1
2-141202233-T-A c.10073A>T p.Q3358L Missense 64/91 - 1
2-141202233-T-C c.10073A>G p.Q3358R Missense 64/91 - 1
2-141202233-T-G c.10073A>C p.Q3358P Missense 64/91 - 3
2-141202236-C-T c.10070G>A p.C3357Y Missense 64/91 - 6
2-141202239-C-A c.10067G>T p.R3356I Missense 64/91 - 1
2-141202239-C-G c.10067G>C p.R3356T Missense 64/91 - 3
2-141202243-A-T c.10063T>A p.F3355I Missense 64/91 - 1
2-141202246-C-G c.10060G>C p.E3354Q Missense 64/91 - 1
2-141202246-C-T c.10060G>A p.E3354K Missense 64/91 - 9
2-141202369-G-C c.10058-121C>G - IntronicSNV - 63/90 2
2-141202457-A-G c.10058-209T>C - IntronicSNV - 63/90 1
2-141205642-A-G c.10057+2495T>C - IntronicSNV - 63/90 1
2-141205641-GA-G c.10057+2495del - IntronicDeletion - 63/90 1
2-141208085-G-T c.10057+52C>A - IntronicSNV - 63/90 1
2-141208086-G-T c.10057+51C>A - IntronicSNV - 63/90 1
2-141208101-T-G c.10057+36A>C - IntronicSNV - 63/90 1
2-141208136-C-A c.10057+1G>T - IntronicSNV - 63/90 2
2-141208136-C-T c.10057+1G>A - IntronicSNV - 63/90 1
2-141208137-G-A c.10057C>T p.P3353S Missense 63/91 - 6
2-141208141-G-C c.10053C>G p.D3351E Missense 63/91 - 1
2-141208141-G-T c.10053C>A p.D3351E Missense 63/91 - 1
2-141208143-C-A c.10051G>T p.D3351Y Missense 63/91 - 1
2-141208146-C-T c.10048G>A p.D3350N Missense 63/91 - 1
2-141208137-GACAGTCATCAGGTTCATCAGATCCATCACC-G c.10027_10056del p.G3343_C3352del SpliceDonorDeletion 63/91 - 1
2-141208147-A-G c.10047T>C p.P3349= Synonymous 63/91 - 1
2-141208148-G-A c.10046C>T p.P3349L Missense 63/91 - 1
2-141208149-G-A c.10045C>T p.P3349S Missense 63/91 - 1
2-141208149-G-T c.10045C>A p.P3349T Missense 63/91 - 2
2-141208150-T-C c.10044A>G p.E3348= Synonymous 63/91 - 1
2-141208151-T-A c.10043A>T p.E3348V Missense 63/91 - 1
2-141208152-C-T c.10042G>A p.E3348K Missense 63/91 - 4
2-141208154-T-A c.10040A>T p.D3347V Missense 63/91 - 1
2-141208154-T-C c.10040A>G p.D3347G Missense 63/91 - 1
2-141208155-C-T c.10039G>A p.D3347N Missense 63/91 - 2
2-141208157-G-A c.10037C>T p.S3346F Missense 63/91 - 6
2-141208158-A-G c.10036T>C p.S3346P Missense 63/91 - 2
2-141208160-C-A c.10034G>T p.G3345V Missense 63/91 - 1
2-141208160-C-G c.10034G>C p.G3345A Missense 63/91 - 3
2-141208161-C-A c.10033G>T p.G3345* Nonsense 63/91 - 2
2-141208161-C-G c.10033G>C p.G3345R Missense 63/91 - 6
2-141208161-C-T c.10033G>A p.G3345R Missense 63/91 - 9
2-141208162-A-C c.10032T>G p.D3344E Missense 63/91 - 1
2-141208162-A-T c.10032T>A p.D3344E Missense 63/91 - 2
2-141208163-T-C c.10031A>G p.D3344G Missense 63/91 - 1
2-141208164-C-T c.10030G>A p.D3344N Missense 63/91 - 1
2-141208166-C-G c.10028G>C p.G3343A Missense 63/91 - 4
2-141208170-A-G c.10024T>C p.C3342R Missense 63/91 - 1
2-141208170-A-T c.10024T>A p.C3342S Missense 63/91 - 1
2-141208173-C-A c.10021G>T p.D3341Y Missense 63/91 - 6
2-141208176-C-A c.10018G>T p.D3340Y Missense 63/91 - 1
2-141208176-C-T c.10018G>A p.D3340N Missense 63/91 - 2
2-141208181-G-C c.10013C>G p.T3338S Missense 63/91 - 2
2-141208182-T-A c.10012A>T p.T3338S Missense 63/91 - 3
2-141208184-T-C c.10010A>G p.D3337G Missense 63/91 - 2
2-141208185-C-T c.10009G>A p.D3337N Missense 63/91 - 1
2-141208192-C-A c.10002G>T p.W3334C Missense 63/91 - 4
2-141208192-C-G c.10002G>C p.W3334C Missense 63/91 - 2
2-141208192-C-T c.10002G>A p.W3334* Nonsense 63/91 - 8
2-141208193-C-A c.10001G>T p.W3334L Missense 63/91 - 1
2-141208193-C-T c.10001G>A p.W3334* Nonsense 63/91 - 9
2-141208195-C-T c.9999G>A p.W3333* Nonsense 63/91 - 1
2-141208196-C-A c.9998G>T p.W3333L Missense 63/91 - 3
2-141208196-C-T c.9998G>A p.W3333* Nonsense 63/91 - 1
2-141208198-G-A c.9996C>T p.F3332= Synonymous 63/91 - 3
2-141208199-A-C c.9995T>G p.F3332C Missense 63/91 - 2
2-141208202-G-A c.9992C>T p.P3331L Missense 63/91 - 4
2-141208206-T-C c.9988A>G p.I3330V Missense 63/91 - 1
2-141208208-C-T c.9986G>A p.C3329Y Missense 63/91 - 1
2-141208209-A-C c.9985T>G p.C3329G Missense 63/91 - 1
2-141208214-T-TGTCTTTGAATCTAAAGTAAGTCTCTTGTACTAAGCATATACA c.9979_9980insTGTATATGCTTAGTACAAGAGACTTACTTTAGATTCAAAGAC p.D3327delinsVYMLSTRDLL* Frameshift 63/91 - 1
2-141208215-C-A c.9979G>T p.D3327Y Missense 63/91 - 1
2-141208215-C-G c.9979G>C p.D3327H Missense 63/91 - 2
2-141208217-G-A c.9977C>T p.T3326I Missense 63/91 - 1
2-141208217-G-C c.9977C>G p.T3326S Missense 63/91 - 2
2-141208218-T-A c.9976A>T p.T3326S Missense 63/91 - 1
2-141208223-C-T c.9971G>A p.C3324Y Missense 63/91 - 1
2-141208224-A-T c.9970T>A p.C3324S Missense 63/91 - 1
2-141208226-C-A c.9968G>T p.R3323L Missense 63/91 - 2
2-141208226-C-G c.9968G>C p.R3323P Missense 63/91 - 1
2-141208226-C-T c.9968G>A p.R3323H Missense 63/91 - 2
2-141208227-G-A c.9967C>T p.R3323C Missense 63/91 - 3
2-141208227-G-T c.9967C>A p.R3323S Missense 63/91 - 2
2-141211411-A-G c.9963+2613T>C - IntronicSNV - 62/90 1
2-141213963-A-G c.9963+61T>C - IntronicSNV - 62/90 1
2-141214002-A-G c.9963+22T>C - IntronicSNV - 62/90 1
2-141214013-C-A c.9963+11G>T - IntronicSNV - 62/90 1
2-141214025-T-A c.9962A>T p.Q3321L Missense 62/91 - 1
2-141214026-G-C c.9961C>G p.Q3321E Missense 62/91 - 1
2-141214026-G-T c.9961C>A p.Q3321K Missense 62/91 - 3
2-141214029-T-A c.9958A>T p.S3320C Missense 62/91 - 2
2-141214031-G-T c.9956C>A p.A3319D Missense 62/91 - 1
2-141214033-T-G c.9954A>C p.T3318= Synonymous 62/91 - 1
2-141214034-G-C c.9953C>G p.T3318R Missense 62/91 - 2
2-141214035-T-A c.9952A>T p.T3318S Missense 62/91 - 3
2-141214037-C-G c.9950G>C p.C3317S Missense 62/91 - 1
2-141214039-G-A c.9948C>T p.N3316= Synonymous 62/91 - 2
2-141214042-G-T c.9945C>A p.S3315= Synonymous 62/91 - 1
2-141214043-G-A c.9944C>T p.S3315F Missense 62/91 - 5
2-141214043-G-C c.9944C>G p.S3315C Missense 62/91 - 4
2-141214044-A-G c.9943T>C p.S3315P Missense 62/91 - 1
2-141214044-A-T c.9943T>A p.S3315T Missense 62/91 - 2
2-141214046-A-G c.9941T>C p.L3314S Missense 62/91 - 1
2-141214045-TA-T c.9941del p.L3314Yfs*99 Frameshift 62/91 - 1
2-141214049-C-A c.9938G>T p.C3313F Missense 62/91 - 3
2-141214052-G-T c.9935C>A p.T3312N Missense 62/91 - 1
2-141214054-C-A c.9933G>T p.R3311S Missense 62/91 - 1
2-141214055-C-A c.9932G>T p.R3311M Missense 62/91 - 1
2-141214055-C-T c.9932G>A p.R3311K Missense 62/91 - 2
2-141214057-A-T c.9930T>A p.N3310K Missense 62/91 - 1
2-141214059-T-C c.9928A>G p.N3310D Missense 62/91 - 6
2-141214061-T-C c.9926A>G p.D3309G Missense 62/91 - 2
2-141214062-C-A c.9925G>T p.D3309Y Missense 62/91 - 2
2-141214062-C-T c.9925G>A p.D3309N Missense