KMT2C

KMT2C lysine methyltransferase 2C

Annotation transcript: NM_170606.3

11499 unique variant annotations were identified in 2298 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
7-151832374-A-G c.*1543T>C - 3-UTRSNV 59/59 - 1
7-151832435-C-A c.*1482G>T - 3-UTRSNV 59/59 - 2
7-151833111-A-G c.*806T>C - 3-UTRSNV 59/59 - 1
7-151833692-T-C c.*225A>G - 3-UTRSNV 59/59 - 2
7-151833692-T-G c.*225A>C - 3-UTRSNV 59/59 - 2
7-151833826-A-G c.*91T>C - 3-UTRSNV 59/59 - 1
7-151833893-C-T c.*24G>A - 3-UTRSNV 59/59 - 1
7-151833918-C-A c.14735G>T p.*4912Lext*36 Missense 59/59 - 1
7-151833921-T-C c.14732A>G p.N4911S Missense 59/59 - 1
7-151833925-T-C c.14728A>G p.M4910V Missense 59/59 - 1
7-151833933-C-A c.14720G>T p.R4907L Missense 59/59 - 1
7-151833933-C-T c.14720G>A p.R4907Q Missense 59/59 - 1
7-151833934-G-A c.14719C>T p.R4907W Missense 59/59 - 3
7-151833936-C-G c.14717G>C p.C4906S Missense 59/59 - 1
7-151833937-A-T c.14716T>A p.C4906S Missense 59/59 - 1
7-151833938-G-C c.14715C>G p.N4905K Missense 59/59 - 1
7-151833939-T-C c.14714A>G p.N4905S Missense 59/59 - 1
7-151833940-T-C c.14713A>G p.N4905D Missense 59/59 - 2
7-151833943-C-T c.14710G>A p.V4904M Missense 59/59 - 1
7-151833944-A-C c.14709T>G p.A4903= Synonymous 59/59 - 1
7-151833946-C-T c.14707G>A p.A4903T Missense 59/59 - 1
7-151833948-C-G c.14705G>C p.G4902A Missense 59/59 - 1
7-151833955-G-T c.14698C>A p.H4900N Missense 59/59 - 1
7-151833959-C-A c.14694G>T p.P4898= Synonymous 59/59 - 1
7-151833959-C-G c.14694G>C p.P4898= Synonymous 59/59 - 1
7-151833959-C-T c.14694G>A p.P4898= Synonymous 59/59 - 1
7-151833960-G-A c.14693C>T p.P4898L Missense 59/59 - 5
7-151833970-G-A c.14683C>T p.H4895Y Missense 59/59 - 1
7-151833968-GTGC-G c.14682_14684del p.Q4894del InFrameDeletion 59/59 - 1
7-151833971-C-T c.14682G>A p.Q4894= Synonymous 59/59 - 1
7-151833972-T-G c.14681A>C p.Q4894P Missense 59/59 - 1
7-151833975-T-C c.14678A>G p.D4893G Missense 59/59 - 1
7-151833975-T-TTC c.14677_14678insGA p.D4893Gfs*13 Frameshift 59/59 - 1
7-151833978-T-C c.14675A>G p.D4892G Missense 59/59 - 1
7-151833979-C-T c.14674G>A p.D4892N Missense 59/59 - 1
7-151833982-C-G c.14671G>C p.E4891Q Missense 59/59 - 2
7-151833988-C-G c.14665G>C p.D4889H Missense 59/59 - 2
7-151833988-C-T c.14665G>A p.D4889N Missense 59/59 - 1
7-151833989-A-T c.14664T>A p.F4888L Missense 59/59 - 4
7-151833990-AA-CC c.14662_14663delinsGG p.F4888G Missense 59/59 - 1
7-151833989-A-C c.14664T>G p.F4888L Missense 59/59 - 1
7-151833991-A-G c.14662T>C p.F4888L Missense 59/59 - 2
7-151833993-TT-CC c.14659_14660delinsGG p.K4887G Missense 59/59 - 1
7-151833996-T-C c.14657A>G p.Y4886C Missense 59/59 - 2
7-151833996-T-G c.14657A>C p.Y4886S Missense 59/59 - 3
7-151833998-G-A c.14655C>T p.D4885= Synonymous 59/59 - 1
7-151834002-T-C c.14651A>G p.Y4884C Missense 59/59 - 3
7-151834004-G-A c.14649C>T p.C4883= Synonymous 59/59 - 1
7-151834005-C-T c.14648G>A p.C4883Y Missense 59/59 - 1
7-151834006-A-G c.14647T>C p.C4883R Missense 59/59 - 1
7-151834007-G-A c.14646C>T p.L4882= Synonymous 59/59 - 2
7-151834007-G-C c.14646C>G p.L4882= Synonymous 59/59 - 2
7-151834007-G-T c.14646C>A p.L4882= Synonymous 59/59 - 2
7-151834008-A-G c.14645T>C p.L4882P Missense 59/59 - 1
7-151834155-T-C c.14644-146A>G - IntronicSNV - 58/58 1
7-151834236-C-CG c.14644-228dup - IntronicInsertion - 58/58 1
7-151835212-T-C c.14643+669A>G - IntronicSNV - 58/58 1
7-151835721-A-C c.14643+160T>G - IntronicSNV - 58/58 1
7-151835881-C-T c.14643G>A p.E4881= Synonymous 58/59 - 1
7-151835883-C-G c.14641G>C p.E4881Q Missense 58/59 - 1
7-151835885-TCTC-T c.14636_14638del p.G4879del InFrameDeletion 58/59 - 1
7-151835889-C-G c.14635G>C p.G4879R Missense 58/59 - 1
7-151835889-C-T c.14635G>A p.G4879R Missense 58/59 - 1
7-151835893-CTG-ATA c.14629_14631delinsTAT p.Q4877Y Missense 58/59 - 1
7-151835900-C-G c.14624G>C p.R4875T Missense 58/59 - 1
7-151835900-C-T c.14624G>A p.R4875K Missense 58/59 - 1
7-151835903-C-A c.14621G>T p.R4874L Missense 58/59 - 1
7-151835903-C-T c.14621G>A p.R4874Q Missense 58/59 - 6
7-151835904-G-A c.14620C>T p.R4874W Missense 58/59 - 5
7-151835904-G-C c.14620C>G p.R4874G Missense 58/59 - 1
7-151835905-A-ACTCTTCTCTTTCCTGTTGGCTACTTCGTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTCGGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGAT c.14618_14619insATCGGAAGAGCACACGTCTGAACTCCAGTCACAACCGAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAACGAAGTAGCCAACAGGAAAGAGAAGAG p.S4873Rfs*28 Frameshift 58/59 - 1
7-151835909-G-A c.14615C>T p.S4872F Missense 58/59 - 2
7-151835911-G-C c.14613C>G p.S4871R Missense 58/59 - 1
7-151835911-G-T c.14613C>A p.S4871R Missense 58/59 - 1
7-151835913-T-G c.14611A>C p.S4871R Missense 58/59 - 1
7-151835914-G-C c.14610C>G p.I4870M Missense 58/59 - 1
7-151835915-A-AT c.14608dup p.I4870Nfs*16 Frameshift 58/59 - 1
7-151835919-T-G c.14605A>C p.I4869L Missense 58/59 - 1
7-151835921-A-C c.14603T>G p.I4868S Missense 58/59 - 4
7-151835922-T-A c.14602A>T p.I4868F Missense 58/59 - 2
7-151835921-AT-A c.14602del p.I4868Lfs*37 Frameshift 58/59 - 2
7-151835925-T-A c.14599A>T p.K4867* Nonsense 58/59 - 2
7-151835927-T-C c.14597A>G p.H4866R Missense 58/59 - 2
7-151835928-G-A c.14596C>T p.H4866Y Missense 58/59 - 1
7-151835930-C-A c.14594G>T p.G4865V Missense 58/59 - 1
7-151835930-C-G c.14594G>C p.G4865A Missense 58/59 - 2
7-151835930-C-T c.14594G>A p.G4865E Missense 58/59 - 3
7-151835933-C-G c.14591G>C p.R4864T Missense 58/59 - 2
7-151835933-C-T c.14591G>A p.R4864K Missense 58/59 - 1
7-151835937-C-A c.14587G>T p.E4863* Nonsense 58/59 - 1
7-151835937-C-G c.14587G>C p.E4863Q Missense 58/59 - 1
7-151835937-C-T c.14587G>A p.E4863K Missense 58/59 - 1
7-151835938-A-C c.14586T>G p.F4862L Missense 58/59 - 1
7-151835938-A-T c.14586T>A p.F4862L Missense 58/59 - 1
7-151835940-A-G c.14584T>C p.F4862L Missense 58/59 - 1
7-151835944-C-A c.14580G>T p.V4860= Synonymous 58/59 - 3
7-151835944-C-G c.14580G>C p.V4860= Synonymous 58/59 - 3
7-151835944-C-T c.14580G>A p.V4860= Synonymous 58/59 - 3
7-151835946-C-T c.14578G>A p.V4860M Missense 58/59 - 1
7-151835949-C-G c.14575G>C p.V4859L Missense 58/59 - 1
7-151835949-C-T c.14575G>A p.V4859M Missense 58/59 - 1
7-151835951-T-G c.14573A>C p.E4858A Missense 58/59 - 1
7-151835952-C-T c.14572G>A p.E4858K Missense 58/59 - 2
7-151835955-C-A c.14569G>T p.A4857S Missense 58/59 - 2
7-151835964-T-C c.14560A>G p.N4854D Missense 58/59 - 4
7-151835966-G-T c.14558C>A p.P4853H Missense 58/59 - 1
7-151835967-G-C c.14557C>G p.P4853A Missense 58/59 - 1
7-151835970-C-T c.14554G>A p.A4852T Missense 58/59 - 1
7-151835972-C-T c.14552G>A p.C4851Y Missense 58/59 - 3
7-151835974-C-A c.14550G>T p.S4850= Synonymous 58/59 - 3
7-151835974-C-G c.14550G>C p.S4850= Synonymous 58/59 - 3
7-151835974-C-T c.14550G>A p.S4850= Synonymous 58/59 - 4
7-151835975-G-A c.14549C>T p.S4850L Missense 58/59 - 10
7-151835976-A-C c.14548T>G p.S4850A Missense 58/59 - 1
7-151835979-G-A c.14545C>T p.H4849Y Missense 58/59 - 7
7-151835981-T-C c.14543A>G p.N4848S Missense 58/59 - 6
7-151835981-TT-GC c.14542_14543delinsGC p.N4848A Missense 58/59 - 2
7-151835985-T-C c.14539A>G p.I4847V Missense 58/59 - 1
7-151835988-A-G c.14536T>C p.Y4846H Missense 58/59 - 1
7-151836271-C-G c.14534G>C p.R4845T Missense 57/59 - 4
7-151836274-G-C c.14531C>G p.A4844G Missense 57/59 - 1
7-151836275-C-T c.14530G>A p.A4844T Missense 57/59 - 2
7-151836273-TGCGG-T c.14528_14531del p.P4843Qfs*17 Frameshift 57/59 - 1
7-151836276-G-A c.14529C>T p.P4843= Synonymous 57/59 - 1
7-151836276-G-C c.14529C>G p.P4843= Synonymous 57/59 - 1
7-151836276-G-T c.14529C>A p.P4843= Synonymous 57/59 - 1
7-151836277-G-A c.14528C>T p.P4843L Missense 57/59 - 1
7-151836278-G-T c.14527C>A p.P4843T Missense 57/59 - 1
7-151836280-C-G c.14525G>C p.G4842A Missense 57/59 - 1
7-151836278-G-GC c.14526dup p.P4843Afs*12 Frameshift 57/59 - 2
7-151836280-C-CCTCCCAGCCCCTAAAAAAAAGTGTGTACATACTTCCAATTTATGTGACAACAATTTTTTCAAGCAGAAGACGGCATACGAGATAGGTTGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGAT c.14524_14525insATCGGAAGAGCACACGTCTGAACTCCAGTCACAACAACCTATCTCGTATGCCGTCTTCTGCTTGAAAAAATTGTTGTCACATAAATTGGAAGTATGTACACACTTTTTTTTAGGGGCTGGGAG p.G4841_G4842insDRKSTRLNSSHNNLSRMPSSA* Frameshift 57/59 - 1
7-151836284-C-T c.14521G>A p.G4841R Missense 57/59 - 1
7-151836290-G-A c.14515C>T p.L4839F Missense 57/59 - 2
7-151836292-G-A c.14513C>T p.T4838M Missense 57/59 - 4
7-151836295-G-A c.14510C>T p.A4837V Missense 57/59 - 5
7-151836296-C-A c.14509G>T p.A4837S Missense 57/59 - 1
7-151836296-C-T c.14509G>A p.A4837T Missense 57/59 - 3
7-151836297-G-A c.14508C>T p.D4836= Synonymous 57/59 - 2
7-151836298-T-TTC c.14506_14507insGA p.D4836Gfs*26 Frameshift 57/59 - 1
7-151836301-A-G c.14504T>C p.I4835T Missense 57/59 - 1
7-151836301-A-T c.14504T>A p.I4835N Missense 57/59 - 1
7-151836306-CA-C c.14499del p.H4833Qfs*2 Frameshift 57/59 - 2
7-151836311-C-A c.14494G>T p.D4832Y Missense 57/59 - 3
7-151836311-C-T c.14494G>A p.D4832N Missense 57/59 - 2
7-151836317-C-A c.14488G>T p.D4830Y Missense 57/59 - 1
7-151836320-T-C c.14485A>G p.M4829V Missense 57/59 - 1
7-151836322-C-A c.14483G>T p.R4828L Missense 57/59 - 2
7-151836322-C-T c.14483G>A p.R4828H Missense 57/59 - 12
7-151836323-G-A c.14482C>T p.R4828C Missense 57/59 - 3
7-151836327-C-A c.14478G>T p.M4826I Missense 57/59 - 1
7-151836329-T-C c.14476A>G p.M4826V Missense 57/59 - 1
7-151836330-G-T c.14475C>A p.Y4825* Nonsense 57/59 - 1
7-151836331-GTA-G c.14473_14474del p.Y4825Hfs*6 Frameshift 57/59 - 1
7-151836331-T-C c.14474A>G p.Y4825C Missense 57/59 - 1
7-151836336-ACC-TTG c.14467_14469delinsCAA p.G4823Q Missense 57/59 - 1
7-151836340-C-G c.14465G>C p.R4822P Missense 57/59 - 1
7-151836341-G-A c.14464C>T p.R4822C Missense 57/59 - 7
7-151836343-T-G c.14462A>C p.N4821T Missense 57/59 - 1
7-151836397-T-C c.14461-53A>G - IntronicSNV - 56/58 1
7-151836726-G-A c.14460+34C>T - IntronicSNV - 56/58 2
7-151836761-T-C c.14459A>G p.Q4820R Missense 56/59 - 6
7-151836762-G-A c.14458C>T p.Q4820* Nonsense 56/59 - 2
7-151836762-G-C c.14458C>G p.Q4820E Missense 56/59 - 1
7-151836764-G-T c.14456C>A p.S4819Y Missense 56/59 - 1
7-151836768-C-T c.14452G>A p.E4818K Missense 56/59 - 1
7-151836769-A-C c.14451T>G p.Y4817* Nonsense 56/59 - 1
7-151836769-A-T c.14451T>A p.Y4817* Nonsense 56/59 - 1
7-151836776-CTT-C c.14443_14444del p.K4815Afs*3 Frameshift 56/59 - 1
7-151836778-C-A c.14442G>T p.E4814D Missense 56/59 - 3
7-151836778-C-G c.14442G>C p.E4814D Missense 56/59 - 2
7-151836783-T-A c.14437A>T p.K4813* Nonsense 56/59 - 1
7-151836784-C-T c.14436G>A p.R4812= Synonymous 56/59 - 1
7-151836785-C-A c.14435G>T p.R4812M Missense 56/59 - 3
7-151836786-T-C c.14434A>G p.R4812G Missense 56/59 - 2
7-151836787-G-C c.14433C>G p.N4811K Missense 56/59 - 2
7-151836787-G-T c.14433C>A p.N4811K Missense 56/59 - 3
7-151836793-T-A c.14427A>T p.V4809= Synonymous 56/59 - 1
7-151836794-A-T c.14426T>A p.V4809E Missense 56/59 - 1
7-151836795-C-A c.14425G>T p.V4809L Missense 56/59 - 1
7-151836795-C-T c.14425G>A p.V4809I Missense 56/59 - 1
7-151836798-C-G c.14422G>C p.E4808Q Missense 56/59 - 1
7-151836798-C-T c.14422G>A p.E4808K Missense 56/59 - 7
7-151836774-G-GCTTCTCTTTCCTGTTGGCTACTTCGTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTCGGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT c.14445_14446insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACAACCGAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAACGAAGTAGCCAACAGGAAAGAGAAG p.L4816Rfs*28 Frameshift 56/59 - 1
7-151836803-C-T c.14417G>A p.R4806Q Missense 56/59 - 4
7-151836804-G-A c.14416C>T p.R4806* Nonsense 56/59 - 15
7-151836804-G-C c.14416C>G p.R4806G Missense 56/59 - 1
7-151836804-G-T c.14416C>A p.R4806= Synonymous 56/59 - 1
7-151836805-A-C c.14415T>G p.I4805M Missense 56/59 - 1
7-151836806-A-G c.14414T>C p.I4805T Missense 56/59 - 1
7-151836807-T-C c.14413A>G p.I4805V Missense 56/59 - 1
7-151836808-TG-T c.14412del p.I4805Ffs*5 Frameshift 56/59 - 1
7-151836809-GA-G c.14411del p.I4804Tfs*6 Frameshift 56/59 - 1
7-151836810-T-C c.14410A>G p.I4804V Missense 56/59 - 1
7-151836813-GT-G c.14407del p.T4803Lfs*7 Frameshift 56/59 - 2
7-151836814-C-T c.14406G>A p.G4802= Synonymous 56/59 - 1
7-151836816-C-A c.14404G>T p.G4802W Missense 56/59 - 1
7-151836816-C-G c.14404G>C p.G4802R Missense 56/59 - 2
7-151836816-C-T c.14404G>A p.G4802R Missense 56/59 - 6
7-151836817-G-A c.14403C>T p.I4801= Synonymous 56/59 - 2
7-151836817-G-T c.14403C>A p.I4801= Synonymous 56/59 - 1
7-151836818-A-G c.14402T>C p.I4801T Missense 56/59 - 1
7-151836824-T-A c.14396A>T p.E4799V Missense 56/59 - 1
7-151836825-C-A c.14395G>T p.E4799* Nonsense 56/59 - 1
7-151836825-C-T c.14395G>A p.E4799K Missense 56/59 - 2
7-151836831-C-T c.14389G>A p.V4797I Missense 56/59 - 1
7-151836832-C-A c.14388G>T p.M4796I Missense 56/59 - 1
7-151836832-C-G c.14388G>C p.M4796I Missense 56/59 - 1
7-151836832-C-T c.14388G>A p.M4796I Missense 56/59 - 1
7-151836835-G-C c.14385C>G p.T4795= Synonymous 56/59 - 1
7-151836837-T-G c.14383A>C p.T4795P Missense 56/59 - 2
7-151836846-C-G c.14374G>C p.E4792Q Missense 56/59 - 3
7-151836846-C-T c.14374G>A p.E4792K Missense 56/59 - 3
7-151836848-A-G c.14372T>C p.I4791T Missense 56/59 - 1
7-151836852-C-A c.14368G>T p.D4790Y Missense 56/59 - 1
7-151836852-C-G c.14368G>C p.D4790H Missense 56/59 - 1
7-151836854-C-T c.14366G>A p.R4789Q Missense 56/59 - 1
7-151836855-G-A c.14365C>T p.R4789* Nonsense 56/59 - 9
7-151836858-C-T c.14362G>A p.A4788T Missense 56/59 - 1
7-151836861-C-T c.14359G>A p.A4787T Missense 56/59 - 1
7-151836861-C-CA c.14358dup p.A4787Cfs*6 Frameshift 56/59 - 1
7-151836862-A-C c.14358T>G p.Y4786* Nonsense 56/59 - 1
7-151836863-T-A c.14357A>T p.Y4786F Missense 56/59 - 1
7-151836865-C-CA c.14354dup p.Y4786Vfs*7 Frameshift 56/59 - 1
7-151836867-G-GACCAAGACCTTAAAAAAATGTATGTACATACTTCCAGTTGATATGACAACAGTTCTTTTATGCGCTGCTAGGCATCCTGCTAAGGTTGTTATGGCTGCTGTTAAGCCTTGTGCTCTTCCTGTC c.14352_14353insGACAGGAAGAGCACAAGGCTTAACAGCAGCCATAACAACCTTAGCAGGATGCCTAGCAGCGCATAAAAGAACTGTTGTCATATCAACTGGAAGTATGTACATACATTTTTTTAAGGTCTTGGT p.G4784_L4785insDRKSTRLNSSHNNLSRMPSSA* InFrameInsertion 56/59 - 1
7-151836868-G-A c.14352C>T p.G4784= Synonymous 56/59 - 1
7-151836870-C-A c.14350G>T p.G4784C Missense 56/59 - 1
7-151836873-G-A c.14347C>T p.L4783= Synonymous 56/59 - 1
7-151836873-GCC-G c.14345_14346del p.G4782Afs*10 SpliceAcceptorDeletion 56/59 55/58 1
7-151836876-C-T c.14344G>A p.G4782R Missense 56/59 - 2
7-151836868-G-GCCCAGCCCCTAAAAAAAAGTGTGTACATACTTCCAATTTATGTGACAACAATTTTTTCAAGCAGAAGACGGCATACGAGATAGGTTGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT c.14351_14352insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACAACAACCTATCTCGTATGCCGTCTTCTGCTTGAAAAAATTGTTGTCACATAAATTGGAAGTATGTACACACTTTTTTTTAGGGGCTGGG - Frameshift - 55/58 1
7-151841604-A-G c.14343+194T>C - IntronicSNV - 55/58 1
7-151841781-ACAAAGTATTTCTTCACCTGAATCCGAGACCGTGC-A c.14326_14343+16del - SpliceDonorDeletion 55/59 55/58 1
7-151841802-A-G c.14339T>C p.I4780T Missense 55/59 - 1
7-151841805-C-G c.14336G>C p.R4779P Missense 55/59 - 1
7-151841806-G-A c.14335C>T p.R4779W Missense 55/59 - 2
7-151841811-C-A c.14330G>T p.R4777L Missense 55/59 - 1
7-151841812-G-A c.14329C>T p.R4777W Missense 55/59 - 2
7-151841815-C-G c.14326G>C p.A4776P Missense 55/59 - 1
7-151841815-C-T c.14326G>A p.A4776T Missense 55/59 - 1
7-151841817-CAGA-C c.14322_14324del p.Y4774_L4775delins* MultiAAMissense 55/59 - 1
7-151841818-G-T c.14323C>A p.L4775M Missense 55/59 - 1
7-151841819-A-C c.14322T>G p.Y4774* Nonsense 55/59 - 1
7-151841819-A-T c.14322T>A p.Y4774* Nonsense 55/59 - 1
7-151841820-TA-CC c.14320_14321delinsGG p.Y4774G Missense 55/59 - 1
7-151841823-A-G c.14318T>C p.V4773A Missense 55/59 - 1
7-151841824-C-T c.14317G>A p.V4773M Missense 55/59 - 1
7-151841826-T-C c.14315A>G p.N4772S Missense 55/59 - 2
7-151841828-G-A c.14313C>T p.S4771= Synonymous 55/59 - 1
7-151841829-G-T c.14312C>A p.S4771Y Missense 55/59 - 1
7-151841834-C-T c.14307G>A p.W4769* Nonsense 55/59 - 1
7-151841838-T-C c.14303A>G p.E4768G Missense 55/59 - 1
7-151841839-C-G c.14302G>C p.E4768Q Missense 55/59 - 1
7-151841840-A-C c.14301T>G p.T4767= Synonymous 55/59 - 1
7-151841840-A-G c.14301T>C p.T4767= Synonymous 55/59 - 1
7-151841840-A-T c.14301T>A p.T4767= Synonymous 55/59 - 1
7-151841844-T-G c.14297A>C p.K4766T Missense 55/59 - 1
7-151841850-T-TCC c.14290_14291insGG p.K4764Rfs*3 Frameshift 55/59 - 1
7-151841853-C-A c.14288G>T p.R4763L Missense 55/59 - 1
7-151841853-C-T c.14288G>A p.R4763Q Missense 55/59 - 4
7-151841854-G-A c.14287C>T p.R4763W Missense 55/59 - 1
7-151841854-G-C c.14287C>G p.R4763G Missense 55/59 - 1
7-151841861-CGA-GTT c.14278_14280delinsAAC p.S4760N Missense 55/59 - 1
7-151841862-G-A c.14279C>T p.S4760L Missense 55/59 - 1
7-151841862-G-C c.14279C>G p.S4760W Missense 55/59 - 1
7-151841865-G-C c.14276C>G p.S4759* Nonsense 55/59 - 1
7-151841865-G-T c.14276C>A p.S4759* Nonsense 55/59 - 2
7-151841868-T-C c.14273A>G p.K4758R Missense 55/59 - 3
7-151841869-T-TG c.14271dup p.K4758Qfs*11 Frameshift 55/59 - 1
7-151841871-G-C c.14270C>G p.S4757C Missense 55/59 - 3
7-151841873-G-A c.14268C>T p.H4756= Synonymous 55/59 - 2
7-151841874-T-C c.14267A>G p.H4756R Missense 55/59 - 1
7-151841875-G-A c.14266C>T p.H4756Y Missense 55/59 - 1
7-151841876-A-T c.14265T>A p.V4755= Synonymous 55/59 - 1
7-151841878-C-T c.14263G>A p.V4755I Missense 55/59 - 1
7-151841879-A-C c.14262T>G p.F4754L Missense 55/59 - 1
7-151841879-A-T c.14262T>A p.F4754L Missense 55/59 - 1
7-151841881-A-AAAGCACTCCCCGTCAGGTTCCTCGCTGTCTCACCTTGCGGGCC c.14259_14260insGGCCCGCAAGGTGAGACAGCGAGGAACCTGACGGGGAGTGCTT p.F4754Gfs*29 Frameshift 55/59 - 1
7-151841881-A-G c.14260T>C p.F4754L Missense 55/59 - 1
7-151841888-TACTATAA-T c.14247_14253del p.Y4750Nfs*14 Frameshift 55/59 - 3
7-151841892-T-C c.14249A>G p.Y4750C Missense 55/59 - 1
7-151841896-G-A c.14245C>T p.P4749S Missense 55/59 - 1
7-151841896-G-T c.14245C>A p.P4749T Missense 55/59 - 1
7-151841898-G-A c.14243C>T p.A4748V Missense 55/59 - 4
7-151841899-C-A c.14242G>T p.A4748S Missense 55/59 - 2
7-151841899-C-T c.14242G>A p.A4748T Missense 55/59 - 6
7-151841900-G-GT c.14240dup p.N4747Kfs*5 Frameshift 55/59 - 1
7-151841903-C-A c.14238G>T p.L4746= Synonymous 55/59 - 1
7-151841903-C-G c.14238G>C p.L4746= Synonymous 55/59 - 1
7-151841903-C-T c.14238G>A p.L4746= Synonymous 55/59 - 1
7-151841903-TC-T c.14238del p.N4747Tfs*19 Frameshift 55/59 - 1
7-151841905-G-A c.14236C>T p.L4746= Synonymous 55/59 - 1
7-151841908-C-G c.14233G>C p.E4745Q Missense 55/59 - 1
7-151841910-C-T c.14231G>A p.G4744E Missense 55/59 - 1
7-151841911-C-A c.14230G>T p.G4744* Nonsense 55/59 - 1
7-151841913-G-T c.14228C>A p.T4743N Missense 55/59 - 1
7-151841914-T-C c.14227A>G p.T4743A Missense 55/59 - 1
7-151841924-C-A c.14217G>T p.Q4739H Missense 55/59 - 1
7-151841924-C-G c.14217G>C p.Q4739H Missense 55/59 - 1
7-151841925-T-A c.14216A>T p.Q4739L Missense 55/59 - 1
7-151841926-G-A c.14215C>T p.Q4739* Nonsense 55/59 - 2
7-151841931-G-C c.14210C>G p.S4737* Nonsense 55/59 - 2
7-151841931-G-T c.14210C>A p.S4737* Nonsense 55/59 - 3
7-151841932-GA-G c.14209del p.S4737Hfs*10 Frameshift 55/59 - 1
7-151841937-G-C c.14204C>G p.S4735* Nonsense 55/59 - 3
7-151841937-G-T c.14204C>A p.S4735* Nonsense 55/59 - 1
7-151841940-G-A c.14201C>T p.T4734I Missense 55/59 - 1
7-151841946-G-A c.14195C>T p.T4732I Missense 55/59 - 1
7-151841949-C-T c.14192G>A p.S4731N Missense 55/59 - 1
7-151841947-TGCTGTTTAAGGTGTGAG-T c.14177_14193del p.P4726Hfs*20 Frameshift 55/59 - 3
7-151841950-T-C c.14191A>G p.S4731G Missense 55/59 - 1
7-151841956-A-C c.14185T>G p.L4729V Missense 55/59 - 4
7-151841958-G-T c.14183C>A p.T4728N Missense 55/59 - 1
7-151841960-G-A c.14181C>T p.H4727= Synonymous 55/59 - 1
7-151841960-G-T c.14181C>A p.H4727Q Missense 55/59 - 2
7-151841962-G-A c.14179C>T p.H4727Y Missense 55/59 - 1
7-151841965-G-A c.14176C>T p.P4726S Missense 55/59 - 1
7-151842149-G-A c.14174+89C>T - IntronicSNV - 54/58 1
7-151842246-A-G c.14166T>C p.F4722= Synonymous 54/59 - 3
7-151842252-C-A c.14160G>T p.K4720N Missense 54/59 - 1
7-151842259-T-C c.14153A>G p.H4718R Missense 54/59 - 1
7-151842262-G-C c.14150C>G p.A4717G Missense 54/59 - 1
7-151842262-G-T c.14150C>A p.A4717D Missense 54/59 - 1
7-151842263-C-A c.14149G>T p.A4717S Missense 54/59 - 1
7-151842263-C-T c.14149G>A p.A4717T Missense 54/59 - 1
7-151842266-T-A c.14146A>T p.S4716C Missense 54/59 - 1
7-151842266-T-C c.14146A>G p.S4716G Missense 54/59 - 1
7-151842269-T-C c.14143A>G p.M4715V Missense 54/59 - 1
7-151842271-T-G c.14141A>C p.K4714T Missense 54/59 - 4
7-151842274-G-A c.14138C>T p.P4713L Missense 54/59 - 1
7-151842278-C-T c.14134G>A p.E4712K Missense 54/59 - 1
7-151842278-C-CA c.14133dup p.E4712* Nonsense 54/59 - 1
7-151842279-A-C c.14133T>G p.S4711= Synonymous 54/59 - 1
7-151842283-C-G c.14129G>C p.R4710P Missense 54/59 - 3
7-151842283-CG-GC c.14128_14129delinsGC p.R4710A Missense 54/59 - 2
7-151842283-C-T c.14129G>A p.R4710H Missense 54/59 - 2
7-151842284-G-A c.14128C>T p.R4710C Missense 54/59 - 1
7-151842286-G-A c.14126C>T p.A4709V Missense 54/59 - 2
7-151842286-G-C c.14126C>G p.A4709G Missense 54/59 - 1
7-151842287-C-A c.14125G>T p.A4709S Missense 54/59 - 4
7-151842289-C-G c.14123G>C p.C4708S Missense 54/59 - 1
7-151842290-A-T c.14122T>A p.C4708S Missense 54/59 - 1
7-151842289-CA-C c.14122del p.C4708Vfs*8 Frameshift 54/59 - 1
7-151842291-A-C c.14121T>G p.G4707= Synonymous 54/59 - 1
7-151842291-A-G c.14121T>C p.G4707= Synonymous 54/59 - 2
7-151842291-A-T c.14121T>A p.G4707= Synonymous 54/59 - 1
7-151842293-C-T c.14119G>A p.G4707S Missense 54/59 - 1
7-151842295-G-A c.14117C>T p.T4706I Missense 54/59 - 1
7-151842296-T-G c.14116A>C p.T4706P Missense 54/59 - 1
7-151842298-G-A c.14114C>T p.P4705L Missense 54/59 - 1
7-151842298-G-T c.14114C>A p.P4705H Missense 54/59 - 1
7-151842299-G-A c.14113C>T p.P4705S Missense 54/59 - 2
7-151842300-G-A c.14112C>T p.N4704= Synonymous 54/59 - 1
7-151842301-T-C c.14111A>G p.N4704S Missense 54/59 - 1
7-151842300-G-GT c.14111dup p.N4704Kfs*9 Frameshift 54/59 - 1
7-151842305-C-A c.14107G>T p.V4703F Missense 54/59 - 1
7-151842305-C-T c.14107G>A p.V4703I Missense 54/59 - 4
7-151842306-G-A c.14106C>T p.A4702= Synonymous 54/59 - 2
7-151842306-G-C c.14106C>G p.A4702= Synonymous 54/59 - 1
7-151842306-G-T c.14106C>A p.A4702= Synonymous 54/59 - 1
7-151842307-G-C c.14105C>G p.A4702G Missense 54/59 - 1
7-151842308-C-T c.14104G>A p.A4702T Missense 54/59 - 2
7-151842310-A-C c.14102T>G p.L4701R Missense 54/59 - 2
7-151842311-G-A c.14101C>T p.L4701F Missense 54/59 - 1
7-151842311-G-T c.14101C>A p.L4701I Missense 54/59 - 1
7-151842312-AG-A c.14099del p.P4700Lfs*16 Frameshift 54/59 - 1
7-151842314-G-A c.14098C>T p.P4700S Missense 54/59 - 2
7-151842316-A-G c.14096T>C p.L4699P Missense 54/59 - 2
7-151842320-C-A c.14092G>T p.E4698* Nonsense 54/59 - 2
7-151842320-C-T c.14092G>A p.E4698K Missense 54/59 - 1
7-151842324-G-T c.14088C>A p.L4696= Synonymous 54/59 - 1
7-151842326-G-C c.14086C>G p.L4696V Missense 54/59 - 3
7-151842331-T-C c.14081A>G p.N4694S Missense 54/59 - 1
7-151842334-C-T c.14078G>A p.R4693Q Missense 54/59 - 9
7-151842335-G-A c.14077C>T p.R4693* Nonsense 54/59 - 6
7-151842337-C-A c.14075G>T p.G4692V Missense 54/59 - 1
7-151842336-GC-G c.14075del p.G4692Afs*24 Frameshift 54/59 - 1
7-151842338-C-T c.14074G>A p.G4692S Missense 54/59 - 2
7-151842339-G-A c.14073C>T p.Y4691= Synonymous 54/59 - 2
7-151842339-G-C c.14073C>G p.Y4691* Nonsense 54/59 - 9
7-151842339-G-T c.14073C>A p.Y4691* Nonsense 54/59 - 12
7-151842343-C-T c.14069G>A p.R4690Q Missense 54/59 - 7
7-151842344-G-A c.14068C>T p.R4690* Nonsense 54/59 - 5
7-151842343-CG-C c.14068del p.R4690Dfs*26 Frameshift 54/59 - 1
7-151842348-G-A c.14064C>T p.T4688= Synonymous 54/59 - 2
7-151842348-G-C c.14064C>G p.T4688= Synonymous 54/59 - 2
7-151842348-G-T c.14064C>A p.T4688= Synonymous 54/59 - 2
7-151842350-T-C c.14062A>G p.T4688A Missense 54/59 - 1
7-151842350-T-G c.14062A>C p.T4688P Missense 54/59 - 3
7-151842355-T-C c.14057A>G p.N4686S Missense 54/59 - 13
7-151842354-AT-A c.14057del p.N4686Ifs*30 Frameshift 54/59 - 1
7-151842358-T-A c.14054A>T p.E4685V Missense 54/59 - 1
7-151842359-C-A c.14053G>T p.E4685* Nonsense 54/59 - 1
7-151842359-C-G c.14053G>C p.E4685Q Missense 54/59 - 1
7-151842359-C-T c.14053G>A p.E4685K Missense 54/59 - 1
7-151842365-C-G c.14047G>C p.A4683P Missense 54/59 - 3
7-151842365-C-T c.14047G>A p.A4683T Missense 54/59 - 1
7-151842366-C-A c.14046G>T p.E4682D Missense 54/59 - 1
7-151842368-C-A c.14044G>T p.E4682* Nonsense 54/59 - 1
7-151842368-C-G c.14044G>C p.E4682Q Missense 54/59 - 2
7-151842372-C-A c.14040G>T p.G4680= Synonymous 54/59 - 1
7-151842372-C-G c.14040G>C p.G4680= Synonymous 54/59 - 1
7-151842372-C-T c.14040G>A p.G4680= Synonymous 54/59 - 1
7-151842373-C-G c.14039G>C p.G4680A Missense 54/59 - 1
7-151842380-G-T c.14032C>A p.L4678I Missense 54/59 - 1
7-151842397-C-T c.14032-17G>A - IntronicSNV - 53/58 5
7-151843685-G-A c.14030C>T p.S4677L Missense 53/59 - 1
7-151843686-A-T c.14029T>A p.S4677T Missense 53/59 - 1
7-151843689-C-T c.14026G>A p.E4676K Missense 53/59 - 2
7-151843690-C-A c.14025G>T p.A4675= Synonymous 53/59 - 1
7-151843690-C-G c.14025G>C p.A4675= Synonymous 53/59 - 1
7-151843690-C-T c.14025G>A p.A4675= Synonymous 53/59 - 2
7-151843691-G-A c.14024C>T p.A4675V Missense 53/59 - 3
7-151843692-C-T c.14023G>A p.A4675T Missense 53/59 - 2
7-151843693-T-A c.14022A>T p.I4674= Synonymous 53/59 - 2
7-151843693-T-G c.14022A>C p.I4674= Synonymous 53/59 - 1
7-151843695-T-C c.14020A>G p.I4674V Missense 53/59 - 2
7-151843697-C-T c.14018G>A p.R4673H Missense 53/59 - 3
7-151843698-G-A c.14017C>T p.R4673C Missense 53/59 - 6
7-151843700-G-A c.14015C>T p.A4672V Missense 53/59 - 1
7-151843701-C-T c.14014G>A p.A4672T Missense 53/59 - 1
7-151843706-G-A c.14009C>T p.A4670V Missense 53/59 - 1
7-151843707-C-G c.14008G>C p.A4670P Missense 53/59 - 1
7-151843714-G-A c.14001C>T p.T4667= Synonymous 53/59 - 1
7-151843714-G-C c.14001C>G p.T4667= Synonymous 53/59 - 1
7-151843714-G-T c.14001C>A p.T4667= Synonymous 53/59 - 1
7-151843719-G-C c.13996C>G p.L4666V Missense 53/59 - 1
7-151843722-C-G c.13993G>C p.G4665R Missense 53/59 - 1
7-151843722-C-T c.13993G>A p.G4665S Missense 53/59 - 1
7-151843728-G-T c.13987C>A p.L4663M Missense 53/59 - 1
7-151843731-C-A c.13984G>T p.D4662Y Missense 53/59 - 1
7-151843730-TC-T c.13984del p.D4662Ifs*5 Frameshift 53/59 - 1
7-151843732-C-A c.13983G>T p.E4661D Missense 53/59 - 2
7-151843732-C-T c.13983G>A p.E4661= Synonymous 53/59 - 2
7-151843734-C-A c.13981G>T p.E4661* Nonsense 53/59 - 1
7-151843734-C-G c.13981G>C p.E4661Q Missense 53/59 - 1
7-151843736-C-T c.13979G>A p.G4660E Missense 53/59 - 3
7-151843738-T-A c.13977A>T p.K4659N Missense 53/59 - 2
7-151843738-T-G c.13977A>C p.K4659N Missense 53/59 - 2
7-151843741-T-TA c.13973dup p.L4658Ffs*25 Frameshift 53/59 - 1
7-151843744-A-T c.13971T>A p.Y4657* Nonsense 53/59 - 1
7-151843748-G-A c.13967C>T p.A4656V Missense 53/59 - 6
7-151843748-G-T c.13967C>A p.A4656E Missense 53/59 - 1
7-151843751-G-A c.13964C>T p.P4655L Missense 53/59 - 2
7-151843752-G-A c.13963C>T p.P4655S Missense 53/59 - 2
7-151843758-G-A c.13957C>T p.L4653F Missense 53/59 - 1
7-151843759-C-G c.13956G>C p.Q4652H Missense 53/59 - 1
7-151843761-G-A c.13954C>T p.Q4652* Nonsense 53/59 - 3
7-151843764-G-T c.13951C>A p.L4651I Missense 53/59 - 1
7-151843770-C-G c.13945G>C p.E4649Q Missense 53/59 - 1
7-151843770-C-T c.13945G>A p.E4649K Missense 53/59 - 3
7-151843773-A-G c.13942T>C p.S4648P Missense 53/59 - 1
7-151843775-T-C c.13940A>G p.K4647R Missense 53/59 - 2
7-151843776-T-TA c.13938_13939insT p.K4647* Nonsense 53/59 - 4
7-151843774-CTT-C c.13939_13940del p.K4647Vfs*2 Frameshift 53/59 - 4
7-151843774-C-CT c.13940dup p.S4648Vfs*2 Frameshift 53/59 - 3
7-151843781-C-T c.13934G>A p.R4645K Missense 53/59 - 1
7-151843784-A-C c.13931T>G p.V4644G Missense 53/59 - 3
7-151843787-C-T c.13928G>A p.C4643Y Missense 53/59 - 2
7-151843791-C-T c.13924G>A p.A4642T Missense 53/59 - 1
7-151843800-C-G c.13915G>C p.E4639Q Missense 53/59 - 2
7-151843809-T-C c.13906A>G p.K4636E Missense 53/59 - 1
7-151843811-T-A c.13904A>T p.D4635V Missense 53/59 - 4
7-151843812-C-G c.13903G>C p.D4635H Missense 53/59 - 1
7-151843812-C-T c.13903G>A p.D4635N Missense 53/59 - 1
7-151843813-C-A c.13902G>T p.W4634C Missense 53/59 - 2
7-151843811-T-TC c.13903dup p.D4635Gfs*2 Frameshift 53/59 - 1
7-151843813-C-T c.13902G>A p.W4634* Nonsense 53/59 - 1
7-151843814-C-A c.13901G>T p.W4634L Missense 53/59 - 1
7-151843814-CCAGACACCTACACAGGGACAAAAACATAATTTTTATAGGAAATAGGATACAGTATAAAA-C c.13895-52_13901del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 53/59 52/58 1
7-151843814-C-T c.13901G>A p.W4634* Nonsense 53/59 - 1
7-151843817-A-AC c.13897dup p.V4633Gfs*4 Frameshift 53/59 - 1
7-151843818-C-CG c.13896_13897insC p.V4633Rfs*4 SpliceAcceptorInsertion 53/59 - 1
7-151843818-C-CT c.13896_13897insA p.V4633Sfs*4 SpliceAcceptorInsertion 53/59 - 1
7-151843818-C-CA c.13896dup p.V4633Cfs*4 SpliceAcceptorInsertion 53/59 - 1
7-151843820-C-A c.13895G>T p.G4632V Missense 53/59 - 1
7-151843820-C-T c.13895G>A p.G4632D Missense 53/59 - 1
7-151845105-C-T c.13894+13G>A - IntronicSNV - 52/58 1
7-151845112-C-T c.13894+6G>A - IntronicSNV - 52/58 1
7-151845116-A-G c.13894+2T>C - IntronicSNV - 52/58 1
7-151845118-C-A c.13894G>T p.G4632C Missense 52/59 - 1
7-151845120-T-C c.13892A>G p.K4631R Missense 52/59 - 2
7-151845121-T-C c.13891A>G p.K4631E Missense 52/59 - 1
7-151845122-AGG-TTA c.13888_13890delinsTAA p.P4630* Nonsense 52/59 - 2
7-151845123-G-A c.13889C>T p.P4630L Missense 52/59 - 1
7-151845123-G-C c.13889C>G p.P4630R Missense 52/59 - 1
7-151845124-G-T c.13888C>A p.P4630T Missense 52/59 - 1
7-151845127-A-T c.13885T>A p.S4629T Missense 52/59 - 1
7-151845129-A-G c.13883T>C p.I4628T Missense 52/59 - 1
7-151845130-T-A c.13882A>T p.I4628F Missense 52/59 - 1
7-151845133-C-T c.13879G>A p.D4627N Missense 52/59 - 1
7-151845133-C-CAAATGCTAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCGCTGATCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAA c.13878_13879insTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATGATCAGCGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAGCATTT p.D4627Ffs*12 Frameshift 52/59 - 1
7-151845135-C-T c.13877G>A p.S4626N Missense 52/59 - 1
7-151845137-T-A c.13875A>T p.L4625= Synonymous 52/59 - 1
7-151845137-T-C c.13875A>G p.L4625= Synonymous 52/59 - 1
7-151845137-T-G c.13875A>C p.L4625= Synonymous 52/59 - 1
7-151845139-G-A c.13873C>T p.L4625= Synonymous 52/59 - 1
7-151845139-G-T c.13873C>A p.L4625I Missense 52/59 - 1
7-151845145-G-C c.13867C>G p.L4623V Missense 52/59 - 1
7-151845145-G-T c.13867C>A p.L4623M Missense 52/59 - 1
7-151845144-AG-A c.13867del p.L4623Wfs*3 Frameshift 52/59 - 1
7-151845148-C-T c.13864G>A p.D4622N Missense 52/59 - 1
7-151845151-C-A c.13861G>T p.E4621* Nonsense 52/59 - 3
7-151845153-ATGGCCTTGTTCC-A c.13848_13859del p.Q4618_E4621del InFrameDeletion 52/59 - 1
7-151845154-G-C c.13858C>G p.H4620D Missense 52/59 - 2
7-151845156-C-T c.13856G>A p.G4619D Missense 52/59 - 1
7-151845160-GT-G c.13851del p.E4617Dfs*9 Frameshift 52/59 - 1
7-151845166-C-T c.13846G>A p.V4616M Missense 52/59 - 1
7-151845166-CA-C c.13845del p.I4615Mfs*11 Frameshift 52/59 - 1
7-151845170-C-T c.13842G>A p.R4614= Synonymous 52/59 - 1
7-151845172-T-G c.13840A>C p.R4614= Synonymous 52/59 - 1
7-151845171-C-T c.13841G>A p.R4614K Missense 52/59 - 2
7-151845172-T-C c.13840A>G p.R4614G Missense 52/59 - 1
7-151845173-G-C c.13839C>G p.I4613M Missense 52/59 - 1
7-151845186-G-A c.13826C>T p.P4609L Missense 52/59 - 1
7-151845187-G-A c.13825C>T p.P4609S Missense 52/59 - 1
7-151845187-G-T c.13825C>A p.P4609T Missense 52/59 - 1
7-151845189-C-T c.13823G>A p.R4608H Missense 52/59 - 3
7-151845190-G-A c.13822C>T p.R4608C Missense 52/59 - 6
7-151845190-G-T c.13822C>A p.R4608S Missense 52/59 - 1
7-151845192-C-A c.13820G>T p.G4607V Missense 52/59 - 1
7-151845192-C-G c.13820G>C p.G4607A Missense 52/59 - 1
7-151845196-C-G c.13816G>C p.D4606H Missense 52/59 - 1
7-151845196-C-T c.13816G>A p.D4606N Missense 52/59 - 1
7-151845197-C-A c.13815G>T p.K4605N Missense 52/59 - 1
7-151845197-C-T c.13815G>A p.K4605= Synonymous 52/59 - 4
7-151845199-TCTC-T c.13810_13812del p.E4604del InFrameDeletion 52/59 - 2
7-151845203-C-A c.13809G>T p.E4603D Missense 52/59 - 1
7-151845203-C-G c.13809G>C p.E4603D Missense 52/59 - 1
7-151845205-C-A c.13807G>T p.E4603* Nonsense 52/59 - 2
7-151845207-A-G c.13805T>C p.I4602T Missense 52/59 - 1
7-151845210-G-A c.13802C>T p.S4601F Missense 52/59 - 3
7-151845211-A-C c.13801T>G p.S4601A Missense 52/59 - 1
7-151845212-G-A c.13800C>T p.C4600= Synonymous 52/59 - 3
7-151845213-C-A c.13799G>T p.C4600F Missense 52/59 - 1
7-151845213-C-T c.13799G>A p.C4600Y Missense 52/59 - 1
7-151845217-G-GTCGTTGCACGATGCTAGCAATCTGTCGCACCTCATCACGCTGAACATAGACCCTCCTGAAGACTGAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCTGAGCCAATCTCGTATGCCGTCTTCTGCTTGAAAAAATAA c.13794_13795insTTATTTTTTCAAGCAGAAGACGGCATACGAGATTGGCTCAGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCAGTCTTCAGGAGGGTCTATGTTCAGCGTGATGAGGTGCGACAGATTGCTAGCATCGTGCAACGA p.C4600Ffs*14 Frameshift 52/59 - 1
7-151845219-T-C c.13793A>G p.Y4598C Missense 52/59 - 1
7-151845222-C-T c.13790G>A p.R4597H Missense 52/59 - 5
7-151845223-G-A c.13789C>T p.R4597C Missense 52/59 - 3
7-151845223-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCA c.13788_13789insTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT p.C4596_R4597ins* Nonsense 52/59 - 1
7-151845224-G-A c.13788C>T p.C4596= Synonymous 52/59 - 1
7-151845227-G-A c.13785C>T p.R4595= Synonymous 52/59 - 1
7-151845228-C-A c.13784G>T p.R4595L Missense 52/59 - 2
7-151845228-C-G c.13784G>C p.R4595P Missense 52/59 - 3
7-151845228-C-T c.13784G>A p.R4595H Missense 52/59 - 1
7-151845229-G-A c.13783C>T p.R4595C Missense 52/59 - 4
7-151845229-G-C c.13783C>G p.R4595G Missense 52/59 - 1
7-151845232-T-C c.13780A>G p.R4594G Missense 52/59 - 1
7-151845234-T-C c.13778A>G p.N4593S Missense 52/59 - 2
7-151845234-T-TCAATCTGTCGCACCTCATCACGCTGAACATAGACCCTCCTGAAGACTGAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCTGTAGCCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAA c.13777_13778insTTTTTTTTTCAAGCAGAAGACGGCATACGAGATGGCTACAGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCAGTCTTCAGGAGGGTCTATGTTCAGCGTGATGAGGTGCGACAGATTG p.N4593delinsIFFSSRRRHTRWLQVTGVQTCALPISVFRRVYVQRDEVRQID MultiAAMissense 52/59 - 1
7-151845237-G-A c.13775C>T p.A4592V Missense 52/59 - 1
7-151845238-C-T c.13774G>A p.A4592T Missense 52/59 - 1
7-151845242-GCG-TCA c.13768_13770delinsTGA p.R4590* Nonsense 52/59 - 1
7-151845242-GC-TT c.13769_13770delinsAA p.R4590Q Missense 52/59 - 1
7-151845243-C-T c.13769G>A p.R4590H Missense 52/59 - 4
7-151845246-G-A c.13766C>T p.T4589I Missense 52/59 - 2
7-151845248-G-C c.13764C>G p.S4588R Missense 52/59 - 1
7-151845250-T-G c.13762A>C p.S4588R Missense 52/59 - 1
7-151845251-C-A c.13761G>T p.W4587C Missense 52/59 - 2
7-151845251-C-G c.13761G>C p.W4587C Missense 52/59 - 4
7-151845251-C-T c.13761G>A p.W4587* Nonsense 52/59 - 4
7-151845252-C-T c.13760G>A p.W4587* Nonsense 52/59 - 3
7-151845253-A-G c.13759T>C p.W4587R Missense 52/59 - 2
7-151845253-A-T c.13759T>A p.W4587R Missense 52/59 - 1
7-151845254-G-T c.13758C>A p.Y4586* Nonsense 52/59 - 2
7-151845261-C-T c.13751G>A p.R4584Q Missense 52/59 - 4
7-151845262-G-A c.13750C>T p.R4584W Missense 52/59 - 10
7-151845262-G-C c.13750C>G p.R4584G Missense 52/59 - 1
7-151845263-G-A c.13749C>T p.S4583= Synonymous 52/59 - 3
7-151845267-G-T c.13745C>A p.A4582D Missense 52/59 - 1
7-151845271-C-T c.13741G>A p.E4581K Missense 52/59 - 1
7-151845273-T-C c.13739A>G p.Y4580C Missense 52/59 - 2
7-151845273-T-G c.13739A>C p.Y4580S Missense 52/59 - 1
7-151845280-C-A c.13732G>T p.V4578L Missense 52/59 - 1
7-151845281-CAG-C c.13730_13731del p.P4577Rfs*4 Frameshift 52/59 - 1
7-151845282-G-A c.13730C>T p.P4577L Missense 52/59 - 1
7-151845282-G-T c.13730C>A p.P4577H Missense 52/59 - 2
7-151845281-AGG-A c.13729_13730del p.P4577Cfs*4 Frameshift 52/59 - 4
7-151845281-AG-A c.13730del p.P4577Lfs*49 Frameshift 52/59 - 1
7-151845289-G-A c.13723C>T p.L4575F Missense 52/59 - 1
7-151845295-T-C c.13717A>G p.K4573E Missense 52/59 - 1
7-151845297-G-A c.13715C>T p.P4572L Missense 52/59 - 1
7-151845300-G-A c.13712C>T p.S4571F Missense 52/59 - 1
7-151845300-G-T c.13712C>A p.S4571Y Missense 52/59 - 1
7-151845309-G-A c.13703C>T p.A4568V Missense 52/59 - 1
7-151845305-G-GAATGCTAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCGCTGATCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAA c.13706_13707insTTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATGATCAGCGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAGCATT p.H4570Ffs*12 Frameshift 52/59 - 1
7-151845312-T-A c.13700A>T p.Q4567L Missense 52/59 - 2
7-151845313-G-A c.13699C>T p.Q4567* Nonsense 52/59 - 1
7-151845314-C-A c.13698G>T p.M4566I Missense 52/59 - 2
7-151845314-C-G c.13698G>C p.M4566I Missense 52/59 - 2
7-151845314-C-T c.13698G>A p.M4566I Missense 52/59 - 2
7-151845321-T-C c.13691A>G p.Q4564R Missense 52/59 - 3
7-151845322-G-A c.13690C>T p.Q4564* Nonsense 52/59 - 1
7-151845322-G-C c.13690C>G p.Q4564E Missense 52/59 - 1
7-151845323-T-A c.13689A>T p.P4563= Synonymous 52/59 - 1
7-151845323-T-C c.13689A>G p.P4563= Synonymous 52/59 - 1
7-151845323-T-G c.13689A>C p.P4563= Synonymous 52/59 - 1
7-151845324-G-T c.13688C>A p.P4563Q Missense 52/59 - 1
7-151845333-T-C c.13679A>G p.Q4560R Missense 52/59 - 1
7-151845334-G-A c.13678C>T p.Q4560* Nonsense 52/59 - 1
7-151845336-C-T c.13676G>A p.G4559D Missense 52/59 - 1
7-151845345-TG-T c.13666del p.H4556Tfs*70 Frameshift 52/59 - 1
7-151845349-A-C c.13663T>G p.F4555V Missense 52/59 - 1
7-151845351-A-T c.13661T>A p.I4554N Missense 52/59 - 2
7-151845352-T-A c.13660A>T p.I4554F Missense 52/59 - 2
7-151845353-G-A c.13659C>T p.L4553= Synonymous 52/59 - 2
7-151845353-G-C c.13659C>G p.L4553= Synonymous 52/59 - 2
7-151845353-G-T c.13659C>A p.L4553= Synonymous 52/59 - 2
7-151845353-TG-T c.13659del p.I4554Sfs*72 Frameshift 52/59 - 1
7-151845354-A-G c.13658T>C p.L4553P Missense 52/59 - 2
7-151845355-G-A c.13657C>T p.L4553F Missense 52/59 - 1
7-151845358-T-C c.13654A>G p.S4552G Missense 52/59 - 1
7-151845360-C-G c.13652G>C p.G4551A Missense 52/59 - 1
7-151845361-C-G c.13651G>C p.G4551R Missense 52/59 - 1
7-151845361-C-T c.13651G>A p.G4551S Missense 52/59 - 1
7-151845364-C-T c.13648G>A p.V4550M Missense 52/59 - 2
7-151845366-C-T c.13646G>A p.R4549H Missense 52/59 - 6
7-151845367-G-A c.13645C>T p.R4549C Missense 52/59 - 15
7-151845370-A-G c.13642T>C p.F4548L Missense 52/59 - 1
7-151845378-T-C c.13634A>G p.D4545G Missense 52/59 - 1
7-151845381-C-T c.13631G>A p.R4544Q Missense 52/59 - 5
7-151845382-G-A c.13630C>T p.R4544W Missense 52/59 - 4
7-151845383-T-C c.13629A>G p.E4543= Synonymous 52/59 - 1
7-151845385-C-T c.13627G>A p.E4543K Missense 52/59 - 1
7-151845387-C-A c.13625G>T p.G4542V Missense 52/59 - 1
7-151845387-C-G c.13625G>C p.G4542A Missense 52/59 - 1
7-151845387-C-T c.13625G>A p.G4542E Missense 52/59 - 1
7-151845384-TCTC-T c.13625_13627del p.G4542del InFrameDeletion 52/59 - 1
7-151845388-C-T c.13624G>A p.G4542R Missense 52/59 - 2
7-151845390-C-T c.13622G>A p.R4541Q Missense 52/59 - 5
7-151845391-G-A c.13621C>T p.R4541* Nonsense 52/59 - 5
7-151845392-T-A c.13620A>T p.Q4540H Missense 52/59 - 1
7-151845393-T-C c.13619A>G p.Q4540R Missense 52/59 - 2
7-151845394-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCA c.13617_13618insTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT p.V4539_Q4540ins* Nonsense 52/59 - 1
7-151845397-C-T c.13615G>A p.V4539M Missense 52/59 - 2
7-151845398-G-A c.13614C>T p.I4538= Synonymous 52/59 - 4
7-151845398-G-T c.13614C>A p.I4538= Synonymous 52/59 - 2
7-151845399-A-G c.13613T>C p.I4538T Missense 52/59 - 2
7-151845400-T-C c.13612A>G p.I4538V Missense 52/59 - 1
7-151845405-G-C c.13607C>G p.A4536G Missense 52/59 - 1
7-151845407-A-C c.13605T>G p.I4535M Missense 52/59 - 1
7-151845414-C-A c.13598G>T p.R4533L Missense 52/59 - 2
7-151845414-C-T c.13598G>A p.R4533Q Missense 52/59 - 2
7-151845415-G-A c.13597C>T p.R4533* Nonsense 52/59 - 9
7-151845417-A-T c.13595T>A p.V4532E Missense 52/59 - 2
7-151845419-C-A c.13593G>T p.E4531D Missense 52/59 - 1
7-151845419-C-T c.13593G>A p.E4531= Synonymous 52/59 - 3
7-151845421-C-A c.13591G>T p.E4531* Nonsense 52/59 - 1
7-151845422-A-T c.13590T>A p.D4530E Missense 52/59 - 1
7-151845424-C-G c.13588G>C p.D4530H Missense 52/59 - 1
7-151845426-C-T c.13586G>A p.R4529H Missense 52/59 - 6
7-151845427-G-A c.13585C>T p.R4529C Missense 52/59 - 2
7-151845428-C-G c.13584G>C p.Q4528H Missense 52/59 - 1
7-151845429-T-A c.13583A>T p.Q4528L Missense 52/59 - 2
7-151845430-G-A c.13582C>T p.Q4528* Nonsense 52/59 - 1
7-151845430-G-C c.13582C>G p.Q4528E Missense 52/59 - 1
7-151845432-A-C c.13580T>G p.V4527G Missense 52/59 - 3
7-151845432-A-G c.13580T>C p.V4527A Missense 52/59 - 2
7-151845434-A-G c.13578T>C p.Y4526= Synonymous 52/59 - 1
7-151845438-A-C c.13574T>G p.V4525G Missense 52/59 - 1
7-151845438-A-G c.13574T>C p.V4525A Missense 52/59 - 2
7-151845440-C-T c.13572G>A p.R4524= Synonymous 52/59 - 1
7-151845443-C-A c.13569G>T p.R4523S Missense 52/59 - 1
7-151845443-C-G c.13569G>C p.R4523S Missense 52/59 - 1
7-151845443-C-T c.13569G>A p.R4523= Synonymous 52/59 - 1
7-151845444-C-A c.13568G>T p.R4523M Missense 52/59 - 1
7-151845445-T-A c.13567A>T p.R4523W Missense 52/59 - 1
7-151845445-T-C c.13567A>G p.R4523G Missense 52/59 - 1
7-151845446-G-A c.13566C>T p.F4522= Synonymous 52/59 - 1
7-151845449-G-C c.13563C>G p.V4521= Synonymous 52/59 - 1
7-151845451-C-T c.13561G>A p.V4521I Missense 52/59 - 4
7-151845388-C-CTCGTTGCACGATGCTAGCAATCTGTCGCACCTCATCACGCTGAACATAGACCCTCCTGAAGACTGAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCTGAGCCAATCTCGTATGCCGTCTTCTGCTTGAAAAAATAA c.13623_13624insTTATTTTTTCAAGCAGAAGACGGCATACGAGATTGGCTCAGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCAGTCTTCAGGAGGGTCTATGTTCAGCGTGATGAGGTGCGACAGATTGCTAGCATCGTGCAACGA p.G4542Lfs*15 Frameshift 52/59 - 1
7-151845405-G-GCAATCTGTCGCACCTCATCACGCTGAACATAGACCCTCCTGAAGACTGAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCTGTAGCCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAA c.13606_13607insTTTTTTTTTCAAGCAGAAGACGGCATACGAGATGGCTACAGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCAGTCTTCAGGAGGGTCTATGTTCAGCGTGATGAGGTGCGACAGATTG p.I4535_A4536insVFFSSRRRHTRWLQVTGVQTCALPISVFRRVYVQRDEVRQI InFrameInsertion 52/59 - 1
7-151845454-C-CACATAGATCGGAAGAGCACACGTCTGAACTCCAGTCACAGCAGGAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAA c.13557_13558insTTTTTTTTCAAGCAGAAGACGGCATACGAGATTTCCTGCTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTATGT p.F4519_A4520insFFFKQKTAYEISCCDWSSDVCSSDLC InFrameInsertion 52/59 - 1
7-151845455-A-G c.13557T>C p.F4519= Synonymous 52/59 - 1
7-151845454-C-CAAATAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACCACTGTATCTCGTATGCCGTCTTCTGCTTGAAAAAAAA c.13557_13558insTTTTTTTTCAAGCAGAAGACGGCATACGAGATACAGTGGTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTATTT p.F4519_A4520insFFFKQKTAYEIQWCDWSSDVCSSDLF InFrameInsertion 52/59 - 1
7-151845454-C-CAAATTAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACGTATCAATCTCGTATGCCGTCTTCTGCTTGAAAAAA c.13557_13558insTTTTTTCAAGCAGAAGACGGCATACGAGATTGATACGTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAATTT p.A4520Ffs*11 Frameshift 52/59 - 1
7-151845458-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACACAGAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAA c.13553_13554insTTTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTTCTGTGTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT p.F4519_A4520insFFFKQKTAYEISVCDWSSDVCSSDLF InFrameInsertion 52/59 - 1
7-151845462-C-T c.13550G>A p.S4517N Missense 52/59 - 1
7-151845463-T-A c.13549A>T p.S4517C Missense 52/59 - 1
7-151845463-T-C c.13549A>G p.S4517G Missense 52/59 - 1
7-151845462-CT-C c.13549del p.S4517Vfs*109 Frameshift 52/59 - 1
7-151845465-A-C c.13547T>G p.L4516* Nonsense 52/59 - 1
7-151845469-C-A c.13543G>T p.E4515* Nonsense 52/59 - 1
7-151845469-C-G c.13543G>C p.E4515Q Missense 52/59 - 1
7-151845470-T-A c.13542A>T p.Q4514H Missense 52/59 - 2
7-151845470-T-G c.13542A>C p.Q4514H Missense 52/59 - 2
7-151845472-G-A c.13540C>T p.Q4514* Nonsense 52/59 - 1
7-151845473-C-T c.13539G>A p.E4513= Synonymous 52/59 - 1
7-151845475-C-A c.13537G>T p.E4513* Nonsense 52/59 - 2
7-151845475-C-T c.13537G>A p.E4513K Missense 52/59 - 4
7-151845476-A-T c.13536T>A p.H4512Q Missense 52/59 - 1
7-151845477-T-C c.13535A>G p.H4512R Missense 52/59 - 1
7-151845478-G-C c.13534C>G p.H4512D Missense 52/59 - 2
7-151845478-G-T c.13534C>A p.H4512N Missense 52/59 - 1
7-151845480-A-C c.13532T>G p.I4511S Missense 52/59 - 2
7-151845482-TCC-ACA c.13528_13530delinsTGT p.G4510C Missense 52/59 - 1
7-151845484-C-A c.13528G>T p.G4510* Nonsense 52/59 - 1
7-151845482-TC-T c.13529del p.G4510Efs*7 Frameshift 52/59 - 1
7-151845485-C-A c.13527G>T p.K4509N Missense 52/59 - 1
7-151845485-C-G c.13527G>C p.K4509N Missense 52/59 - 1
7-151845485-C-T c.13527G>A p.K4509= Synonymous 52/59 - 1
7-151845490-G-A c.13522C>T p.P4508S Missense 52/59 - 2
7-151845490-G-T c.13522C>A p.P4508T Missense 52/59 - 1
7-151845492-T-C c.13520A>G p.K4507R Missense 52/59 - 2
7-151845495-T-G c.13517A>C p.H4506P Missense 52/59 - 2
7-151845497-C-G c.13515G>C p.M4505I Missense 52/59 - 1
7-151845497-C-T c.13515G>A p.M4505I Missense 52/59 - 1
7-151845498-A-T c.13514T>A p.M4505K Missense 52/59 - 2
7-151845504-C-T c.13508G>A p.C4503Y Missense 52/59 - 1
7-151845505-A-G c.13507T>C p.C4503R Missense 52/59 - 1
7-151845506-AAG-CCA c.13504_13506delinsTGG p.L4502W Missense 52/59 - 1
7-151845507-A-C c.13505T>G p.L4502R Missense 52/59 - 1
7-151845507-A-G c.13505T>C p.L4502P Missense 52/59 - 1
7-151845509-C-A c.13503G>T p.M4501I Missense 52/59 - 1
7-151845509-C-G c.13503G>C p.M4501I Missense 52/59 - 1
7-151845509-C-T c.13503G>A p.M4501I Missense 52/59 - 1
7-151845511-T-C c.13501A>G p.M4501V Missense 52/59 - 9
7-151845512-A-T c.13500T>A p.T4500= Synonymous 52/59 - 1
7-151845515-T-G c.13497A>C p.K4499N Missense 52/59 - 1
7-151845516-T-C c.13496A>G p.K4499R Missense 52/59 - 10
7-151845518-G-C c.13494C>G p.D4498E Missense 52/59 - 1
7-151845518-G-T c.13494C>A p.D4498E Missense 52/59 - 1
7-151845521-CT-C c.13490del p.K4497Rfs*20 Frameshift 52/59 - 1
7-151845523-T-AGATCGGAAGAGCACACGTCTGAACTCCAGTCACAACGCTTAATCTCGTATGCCGTCTTCTGCTTGAAA c.13489delinsTTTCAAGCAGAAGACGGCATACGAGATTAAGCGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT p.K4497Ffs*10 Frameshift 52/59 - 1
7-151845524-A-C c.13488T>G p.F4496L Missense 52/59 - 2
7-151845524-A-T c.13488T>A p.F4496L Missense 52/59 - 2
7-151845526-A-C c.13486T>G p.F4496V Missense 52/59 - 1
7-151845526-A-G c.13486T>C p.F4496L Missense 52/59 - 2
7-151845523-TA-T c.13488del p.F4496Lfs*21 Frameshift 52/59 - 21
7-151845531-A-C c.13481T>G p.M4494R Missense 52/59 - 2
7-151845532-T-C c.13480A>G p.M4494V Missense 52/59 - 1
7-151845534-C-T c.13478G>A p.C4493Y Missense 52/59 - 1
7-151845535-A-G c.13477T>C p.C4493R Missense 52/59 - 2
7-151845541-C-G c.13471G>C p.A4491P Missense 52/59 - 2
7-151845546-A-G c.13466T>C p.I4489T Missense 52/59 - 1
7-151845550-C-A c.13462G>T p.A4488S Missense 52/59 - 1
7-151845550-C-T c.13462G>A p.A4488T Missense 52/59 - 3
7-151845551-G-A c.13461C>T p.C4487= Synonymous 52/59 - 3
7-151845555-G-A c.13457C>T p.T4486I Missense 52/59 - 2
7-151845560-G-A c.13452C>T p.H4484= Synonymous 52/59 - 1
7-151845561-T-A c.13451A>T p.H4484L Missense 52/59 - 4
7-151845562-G-A c.13450C>T p.H4484Y Missense 52/59 - 3
7-151845564-T-TA c.13447dup p.Y4483Lfs*8 Frameshift 52/59 - 1
7-151845567-A-G c.13445T>C p.I4482T Missense 52/59 - 1
7-151845570-T-C c.13442A>G p.N4481S Missense 52/59 - 1
7-151845574-T-G c.13438A>C p.T4480P Missense 52/59 - 1
7-151845576-C-A c.13436G>T p.C4479F Missense 52/59 - 2
7-151845577-A-G c.13435T>C p.C4479R Missense 52/59 - 1
7-151845578-TCG-CCA c.13432_13434delinsTGG p.R4478W Missense 52/59 - 1
7-151845579-C-CT c.13432_13433insA p.R4478Qfs*13 Frameshift 52/59 - 1
7-151845579-C-G c.13433G>C p.R4478P Missense 52/59 - 1
7-151845579-C-T c.13433G>A p.R4478Q Missense 52/59 - 4
7-151845580-G-A c.13432C>T p.R4478* Nonsense 52/59 - 20
7-151845580-G-GA c.13431dup p.R4478Sfs*13 Frameshift 52/59 - 1
7-151845583-A-T c.13429T>A p.F4477I Missense 52/59 - 1
7-151845585-C-T c.13427G>A p.R4476K Missense 52/59 - 2
7-151845587-G-C c.13425C>G p.H4475Q Missense 52/59 - 1
7-151845587-G-T c.13425C>A p.H4475Q Missense 52/59 - 1
7-151845590-G-T c.13422C>A p.C4474* Nonsense 52/59 - 2
7-151845591-C-T c.13421G>A p.C4474Y Missense 52/59 - 2
7-151845603-G-A c.13409C>T p.A4470V Missense 52/59 - 1
7-151845605-A-C c.13407T>G p.G4469= Synonymous 52/59 - 1
7-151845605-A-G c.13407T>C p.G4469= Synonymous 52/59 - 1
7-151845605-A-T c.13407T>A p.G4469= Synonymous 52/59 - 1
7-151845606-C-A c.13406G>T p.G4469V Missense 52/59 - 1
7-151845608-C-A c.13404G>T p.T4468= Synonymous 52/59 - 1
7-151845608-C-G c.13404G>C p.T4468= Synonymous 52/59 - 1
7-151845608-C-T c.13404G>A p.T4468= Synonymous 52/59 - 2
7-151845609-G-A c.13403C>T p.T4468M Missense 52/59 - 3
7-151845611-C-T c.13401G>A p.K4467= Synonymous 52/59 - 4
7-151845612-T-A c.13400A>T p.K4467M Missense 52/59 - 1
7-151845618-C-T c.13394G>A p.C4465Y Missense 52/59 - 5
7-151845618-C-G c.13394G>C p.C4465S Missense 52/59 - 1
7-151845619-A-T c.13393T>A p.C4465S Missense 52/59 - 1
7-151845620-G-A c.13392C>T p.F4464= Synonymous 52/59 - 1
7-151845626-A-C c.13386T>G p.C4462W Missense 52/59 - 1
7-151845626-A-G c.13386T>C p.C4462= Synonymous 52/59 - 3
7-151845627-C-T c.13385G>A p.C4462Y Missense 52/59 - 4
7-151845628-A-G c.13384T>C p.C4462R Missense 52/59 - 1
7-151845628-A-T c.13384T>A p.C4462S Missense 52/59 - 1
7-151845625-C-CACATAGATCGGAAGAGCACACGTCTGAACTCCAGTCACAGCAGGAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAA c.13386_13387insTTTTTTTTCAAGCAGAAGACGGCATACGAGATTTCCTGCTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTATGT p.C4462_V4463insFFFKQKTAYEISCCDWSSDVCSSDLC InFrameInsertion 52/59 - 1
7-151845627-C-CATAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACCACTGTATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAA c.13384_13385insTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATACAGTGGTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAT p.K4461_C4462insFFFFKQKTAYEIQWCDWSSDVCSSDL InFrameInsertion 52/59 - 1
7-151845629-T-C c.13383A>G p.K4461= Synonymous 52/59 - 3
7-151845629-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACACAGAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAA c.13382_13383insTTTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTTCTGTGTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT p.K4461delinsNFFFFKQKTAYEISVCDWSSDVCSSDL MultiAAMissense 52/59 - 1
7-151845627-C-CATTAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACGTATCAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAA c.13384_13385insTTTTTTTTCAAGCAGAAGACGGCATACGAGATTGATACGTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAT p.C4462Ffs*12 Frameshift 52/59 - 1
7-151845631-T-A c.13381A>T p.K4461* Nonsense 52/59 - 1
7-151845624-ACACATTTCATTTGTAGGCCTCTCCTCAGAGCTAGCTC-A c.13351_13387del p.E4451Sfs*54 Frameshift 52/59 - 1
7-151845632-C-T c.13380G>A p.M4460I Missense 52/59 - 1
7-151845635-T-A c.13377A>T p.Q4459H Missense 52/59 - 1
7-151845635-T-G c.13377A>C p.Q4459H Missense 52/59 - 1
7-151845641-G-T c.13371C>A p.G4457= Synonymous 52/59 - 1
7-151845642-C-T c.13370G>A p.G4457D Missense 52/59 - 4
7-151845643-C-T c.13369G>A p.G4457S Missense 52/59 - 1
7-151845644-TCT-ACA c.13366_13368delinsTGT p.R4456C Missense 52/59 - 3
7-151845647-CCT-ACA c.13363_13365delinsTGT p.R4455C Missense 52/59 - 1
7-151845648-C-A c.13364G>T p.R4455M Missense 52/59 - 1
7-151845650-C-A c.13362G>T p.L4454= Synonymous 52/59 - 1
7-151845650-C-G c.13362G>C p.L4454= Synonymous 52/59 - 3
7-151845650-C-T c.13362G>A p.L4454= Synonymous 52/59 - 1
7-151845652-G-A c.13360C>T p.L4454= Synonymous 52/59 - 1
7-151845653-A-C c.13359T>G p.A4453= Synonymous 52/59 - 1
7-151845654-G-T c.13358C>A p.A4453D Missense 52/59 - 1
7-151845661-C-G c.13351G>C p.E4451Q Missense 52/59 - 1
7-151845668-T-C c.13344A>G p.I4448M Missense 52/59 - 1
7-151845678-C-T c.13334G>A p.G4445D Missense 52/59 - 3
7-151845679-C-G c.13333G>C p.G4445R Missense 52/59 - 1
7-151845681-G-T c.13331C>A p.A4444D Missense 52/59 - 1
7-151845683-C-A c.13329G>T p.Q4443H Missense 52/59 - 1
7-151845684-CTG-C c.13327_13328del p.Q4443Gfs*29 Frameshift 52/59 - 2
7-151845685-G-A c.13327C>T p.Q4443* Nonsense 52/59 - 2
7-151845685-G-T c.13327C>A p.Q4443K Missense 52/59 - 2
7-151845689-C-A c.13323G>T p.E4441D Missense 52/59 - 1
7-151845689-C-G c.13323G>C p.E4441D Missense 52/59 - 1
7-151845691-C-A c.13321G>T p.E4441* Nonsense 52/59 - 1
7-151845691-C-G c.13321G>C p.E4441Q Missense 52/59 - 1
7-151845691-C-T c.13321G>A p.E4441K Missense 52/59 - 3
7-151845693-T-C c.13319A>G p.Y4440C Missense 52/59 - 11
7-151845697-C-A c.13315G>T p.V4439F Missense 52/59 - 3
7-151845698-C-A c.13314G>T p.E4438D Missense 52/59 - 1
7-151845700-C-T c.13312G>A p.E4438K Missense 52/59 - 2
7-151845702-G-A c.13310C>T p.T4437M Missense 52/59 - 3
7-151845705-G-A c.13307C>T p.S4436F Missense 52/59 - 3
7-151845707-C-T c.13305G>A p.W4435* Nonsense 52/59 - 1
7-151845712-G-A c.13300C>T p.L4434= Synonymous 52/59 - 1
7-151845709-ACAGAGCG-A c.13296_13302del p.A4433Gfs*13 Frameshift 52/59 - 3
7-151845714-G-A c.13298C>T p.A4433V Missense 52/59 - 8
7-151845715-C-T c.13297G>A p.A4433T Missense 52/59 - 9
7-151845716-G-A c.13296C>T p.C4432= Synonymous 52/59 - 1
7-151845717-C-A c.13295G>T p.C4432F Missense 52/59 - 1
7-151845717-C-T c.13295G>A p.C4432Y Missense 52/59 - 1
7-151845718-A-AAGCCTGTAATCCCAGCTACTCGGGAGGCTGAG c.13293_13294insCTCAGCCTCCCGAGTAGCTGGGATTACAGGCT p.C4432Lfs*27 Frameshift 52/59 - 2
7-151845718-A-G c.13294T>C p.C4432R Missense 52/59 - 3
7-151845720-T-C c.13292A>G p.N4431S Missense 52/59 - 1
7-151845722-C-A c.13290G>T p.L4430F Missense 52/59 - 1
7-151845722-C-G c.13290G>C p.L4430F Missense 52/59 - 2
7-151845722-C-T c.13290G>A p.L4430= Synonymous 52/59 - 1
7-151845723-A-C c.13289T>G p.L4430W Missense 52/59 - 1
7-151845723-A-G c.13289T>C p.L4430S Missense 52/59 - 1
7-151845725-G-A c.13287C>T p.H4429= Synonymous 52/59 - 2
7-151845725-G-T c.13287C>A p.H4429Q Missense 52/59 - 1
7-151845726-T-A c.13286A>T p.H4429L Missense 52/59 - 1
7-151845727-G-A c.13285C>T p.H4429Y Missense 52/59 - 1
7-151845730-C-T c.13282G>A p.V4428I Missense 52/59 - 2
7-151845731-C-T c.13281G>A p.W4427* Nonsense 52/59 - 1
7-151845733-A-T c.13279T>A p.W4427R Missense 52/59 - 1
7-151845735-A-T c.13277T>A p.L4426Q Missense 52/59 - 2
7-151845736-G-A c.13276C>T p.L4426= Synonymous 52/59 - 1
7-151845738-T-G c.13274A>C p.D4425A Missense 52/59 - 1
7-151845739-C-A c.13273G>T p.D4425Y Missense 52/59 - 13
7-151845739-C-G c.13273G>C p.D4425H Missense 52/59 - 1
7-151845740-CA-C c.13271del p.L4424Wfs*7 Frameshift 52/59 - 1
7-151845740-C-CA c.13271dup p.L4424Ffs*18 Frameshift 52/59 - 1
7-151845740-C-T c.13272G>A p.L4424= Synonymous 52/59 - 2
7-151845742-A-G c.13270T>C p.L4424= Synonymous 52/59 - 2
7-151845743-G-C c.13269C>G p.D4423E Missense 52/59 - 1
7-151845743-G-T c.13269C>A p.D4423E Missense 52/59 - 1
7-151845745-C-A c.13267G>T p.D4423Y Missense 52/59 - 4
7-151845746-A-G c.13266T>C p.L4422= Synonymous 52/59 - 1
7-151845750-T-A c.13262A>T p.N4421I Missense 52/59 - 1
7-151845752-G-C c.13260C>G p.L4420= Synonymous 52/59 - 1
7-151845753-A-C c.13259T>G p.L4420R Missense 52/59 - 1
7-151845755-T-A c.13257A>T p.L4419= Synonymous 52/59 - 2
7-151845755-T-C c.13257A>G p.L4419= Synonymous 52/59 - 2
7-151845755-T-G c.13257A>C p.L4419= Synonymous 52/59 - 2
7-151845757-G-A c.13255C>T p.L4419= Synonymous 52/59 - 2
7-151845758-C-A c.13254G>T p.R4418S Missense 52/59 - 2
7-151845758-C-G c.13254G>C p.R4418S Missense 52/59 - 1
7-151845759-C-A c.13253G>T p.R4418M Missense 52/59 - 3
7-151845763-C-T c.13249G>A p.A4417T Missense 52/59 - 7
7-151845766-G-A c.13246C>T p.P4416S Missense 52/59 - 7
7-151845768-C-A c.13244G>T p.G4415V Missense 52/59 - 1
7-151845768-C-T c.13244G>A p.G4415E Missense 52/59 - 1
7-151845772-C-T c.13240G>A p.D4414N Missense 52/59 - 3
7-151845777-A-G c.13235T>C p.L4412S Missense 52/59 - 1
7-151845776-C-T c.13236G>A p.L4412= Synonymous 52/59 - 2
7-151845778-A-G c.13234T>C p.L4412= Synonymous 52/59 - 2
7-151845780-C-A c.13232G>T p.G4411V Missense 52/59 - 1
7-151845781-C-G c.13231G>C p.G4411R Missense 52/59 - 2
7-151845781-C-T c.13231G>A p.G4411R Missense 52/59 - 1
7-151845784-C-T c.13228G>A p.D4410N Missense 52/59 - 6
7-151845785-A-G c.13227T>C p.G4409= Synonymous 52/59 - 1
7-151845788-T-C c.13224A>G p.E4408= Synonymous 52/59 - 1
7-151845789-T-C c.13223A>G p.E4408G Missense 52/59 - 2
7-151845790-C-G c.13222G>C p.E4408Q Missense 52/59 - 6
7-151845790-C-T c.13222G>A p.E4408K Missense 52/59 - 1
7-151845793-C-A c.13219G>T p.E4407* Nonsense 52/59 - 1
7-151845793-C-T c.13219G>A p.E4407K Missense 52/59 - 1
7-151845795-T-C c.13217A>G p.H4406R Missense 52/59 - 1
7-151845796-G-T c.13216C>A p.H4406N Missense 52/59 - 1
7-151845799-A-G c.13213T>C p.C4405R Missense 52/59 - 1
7-151845799-A-T c.13213T>A p.C4405S Missense 52/59 - 1
7-151845802-A-G c.13210T>C p.F4404L Missense 52/59 - 1
7-151845803-G-C c.13209C>G p.C4403W Missense 52/59 - 1
7-151845804-CA-GT c.13207_13208delinsAC p.C4403T Missense 52/59 - 1
7-151845807-C-A c.13205G>T p.C4402F Missense 52/59 - 1
7-151845807-C-T c.13205G>A p.C4402Y Missense 52/59 - 1
7-151845809-T-A c.13203A>T p.K4401N Missense 52/59 - 1
7-151845810-T-C c.13202A>G p.K4401R Missense 52/59 - 1
7-151845813-C-T c.13199G>A p.R4400Q Missense 52/59 - 7
7-151845814-G-A c.13198C>T p.R4400W Missense 52/59 - 5
7-151845815-A-G c.13197T>C p.Y4399= Synonymous 52/59 - 1
7-151845816-T-C c.13196A>G p.Y4399C Missense 52/59 - 2
7-151845820-C-T c.13192G>A p.D4398N Missense 52/59 - 1
7-151845823-T-C c.13189A>G p.K4397E Missense 52/59 - 2
7-151845826-G-T c.13186C>A p.P4396T Missense 52/59 - 1
7-151845827-C-A c.13185G>T p.V4395= Synonymous 52/59 - 1
7-151845827-C-G c.13185G>C p.V4395= Synonymous 52/59 - 1
7-151845827-C-T c.13185G>A p.V4395= Synonymous 52/59 - 1
7-151845834-T-C c.13178A>G p.D4393G Missense 52/59 - 5
7-151845835-C-T c.13177G>A p.D4393N Missense 52/59 - 1
7-151845838-G-A c.13174C>T p.P4392S Missense 52/59 - 3
7-151845838-GT-G c.13173del p.K4391Nfs*22 Frameshift 52/59 - 4
7-151845841-T-A c.13171A>T p.K4391* Nonsense 52/59 - 5
7-151845841-T-TA c.13170dup p.K4391* Nonsense 52/59 - 1
7-151845843-AG-A c.13168del p.K4391Nfs*22 Frameshift 52/59 - 2
7-151845846-G-A c.13166C>T p.S4389F Missense 52/59 - 1
7-151845846-G-T c.13166C>A p.S4389Y Missense 52/59 - 4
7-151845849-G-C c.13163C>G p.T4388S Missense 52/59 - 1
7-151845850-T-G c.13162A>C p.T4388P Missense 52/59 - 2
7-151845860-C-T c.13152G>A p.K4384= Synonymous 52/59 - 1
7-151845871-C-A c.13141G>T p.E4381* Nonsense 52/59 - 2
7-151845871-C-T c.13141G>A p.E4381K Missense 52/59 - 4
7-151845873-T-TTC c.13138_13139insGA p.D4380Gfs*5 Frameshift 52/59 - 1
7-151845874-C-A c.13138G>T p.D4380Y Missense 52/59 - 1
7-151845880-C-T c.13132G>A p.E4378K Missense 52/59 - 8
7-151845883-C-T c.13129G>A p.D4377N Missense 52/59 - 1
7-151845886-C-T c.13126G>A p.E4376K Missense 52/59 - 1
7-151845888-CA-GT c.13123_13124delinsAC p.C4375T Missense 52/59 - 1
7-151845892-G-A c.13120C>T p.P4374S Missense 52/59 - 2
7-151845894-G-T c.13118C>A p.P4373Q Missense 52/59 - 1
7-151845895-G-A c.13117C>T p.P4373S Missense 52/59 - 2
7-151845895-G-C c.13117C>G p.P4373A Missense 52/59 - 5
7-151845907-C-A c.13105G>T p.G4369W Missense 52/59 - 1
7-151845909-T-C c.13103A>G p.K4368R Missense 52/59 - 1
7-151845912-GG-AA c.13099_13100delinsTT p.P4367F Missense 52/59 - 2
7-151845915-A-T c.13097T>A p.I4366N Missense 52/59 - 1
7-151845918-A-G c.13094T>C p.V4365A Missense 52/59 - 2
7-151845916-TTACAA-T c.13091_13095del p.I4364Nfs*3 Frameshift 52/59 - 1
7-151845919-C-A c.13093G>T p.V4365L Missense 52/59 - 2
7-151845919-C-G c.13093G>C p.V4365L Missense 52/59 - 1
7-151845919-C-T c.13093G>A p.V4365I Missense 52/59 - 2
7-151845931-T-A c.13081A>T p.S4361C Missense 52/59 - 2
7-151845932-C-T c.13080G>A p.W4360* Nonsense 52/59 - 2
7-151845933-C-T c.13079G>A p.W4360* Nonsense 52/59 - 1
7-151845934-A-G c.13078T>C p.W4360R Missense 52/59 - 2
7-151845934-A-T c.13078T>A p.W4360R Missense 52/59 - 1
7-151845935-C-A c.13077G>T p.K4359N Missense 52/59 - 2
7-151845935-C-G c.13077G>C p.K4359N Missense 52/59 - 3
7-151845935-C-T c.13077G>A p.K4359= Synonymous 52/59 - 1
7-151845937-T-A c.13075A>T p.K4359* Nonsense 52/59 - 1
7-151845934-ACTT-A c.13075_13077del p.K4359del InFrameDeletion 52/59 - 1
7-151845941-C-T c.13071G>A p.W4357* Nonsense 52/59 - 4
7-151845942-C-T c.13070G>A p.W4357* Nonsense 52/59 - 4
7-151845946-T-C c.13066A>G p.K4356E Missense 52/59 - 2
7-151845947-C-A c.13065G>T p.M4355I Missense 52/59 - 1
7-151845947-C-G c.13065G>C p.M4355I Missense 52/59 - 1
7-151845947-C-T c.13065G>A p.M4355I Missense 52/59 - 1
7-151845948-A-G c.13064T>C p.M4355T Missense 52/59 - 1
7-151845949-T-C c.13063A>G p.M4355V Missense 52/59 - 1
7-151845950-T-A c.13062A>T p.G4354= Synonymous 52/59 - 1
7-151845950-T-C c.13062A>G p.G4354= Synonymous 52/59 - 1
7-151845950-T-G c.13062A>C p.G4354= Synonymous 52/59 - 1
7-151845951-TCC-T c.13060_13061del p.G4354Nfs*14 Frameshift 52/59 - 2
7-151845953-T-A c.13059A>T p.R4353S Missense 52/59 - 2
7-151845953-T-G c.13059A>C p.R4353S Missense 52/59 - 4
7-151845954-C-T c.13058G>A p.R4353K Missense 52/59 - 4
7-151845956-C-T c.13056G>A p.W4352* Nonsense 52/59 - 4
7-151845957-C-A c.13055G>T p.W4352L Missense 52/59 - 1
7-151845957-C-T c.13055G>A p.W4352* Nonsense 52/59 - 2
7-151845958-A-C c.13054T>G p.W4352G Missense 52/59 - 1
7-151845961-T-A c.13051A>T p.K4351* Nonsense 52/59 - 1
7-151845958-A-AT c.13053dup p.W4352Mfs*17 Frameshift 52/59 - 2
7-151845958-AT-A c.13053del p.K4351Nfs*5 Frameshift 52/59 - 2
7-151845966-T-G c.13046A>C p.N4349T Missense 52/59 - 1
7-151845971-C-A c.13041G>T p.P4347= Synonymous 52/59 - 1
7-151845971-C-G c.13041G>C p.P4347= Synonymous 52/59 - 1
7-151845971-C-T c.13041G>A p.P4347= Synonymous 52/59 - 1
7-151845972-G-A c.13040C>T p.P4347L Missense 52/59 - 4
7-151845972-G-T c.13040C>A p.P4347Q Missense 52/59 - 2
7-151845974-C-A c.13038G>T p.R4346S Missense 52/59 - 1
7-151845974-C-G c.13038G>C p.R4346S Missense 52/59 - 1
7-151845975-C-A c.13037G>T p.R4346M Missense 52/59 - 1
7-151845978-C-T c.13034G>A p.C4345Y Missense 52/59 - 1
7-151845980-A-G c.13032T>C p.D4344= Synonymous 52/59 - 2
7-151845981-T-C c.13031A>G p.D4344G Missense 52/59 - 1
7-151845982-C-G c.13030G>C p.D4344H Missense 52/59 - 4
7-151845985-TC-T c.13027del p.E4343Kfs*13 Frameshift 52/59 - 2
7-151845986-A-G c.13026T>C p.F4342= Synonymous 52/59 - 1
7-151845988-A-G c.13024T>C p.F4342L Missense 52/59 - 1
7-151845990-C-A c.13022G>T p.G4341V Missense 52/59 - 3
7-151845990-C-T c.13022G>A p.G4341E Missense 52/59 - 1
7-151845991-C-A c.13021G>T p.G4341W Missense 52/59 - 6
7-151845993-C-T c.13019G>A p.G4340D Missense 52/59 - 2
7-151845992-AC-A c.13019del p.G4340Vfs*16 Frameshift 52/59 - 1
7-151845994-C-T c.13018G>A p.G4340S Missense 52/59 - 1
7-151845996-T-C c.13016A>G p.H4339R Missense 52/59 - 6
7-151845996-T-G c.13016A>C p.H4339P Missense 52/59 - 1
7-151845997-G-T c.13015C>A p.H4339N Missense 52/59 - 1
7-151845999-A-G c.13013T>C p.V4338A Missense 52/59 - 1
7-151846003-C-T c.13009G>A p.A4337T Missense 52/59 - 1
7-151846008-A-C c.13004T>G p.L4335R Missense 52/59 - 1
7-151846009-G-C c.13003C>G p.L4335V Missense 52/59 - 1
7-151846011-C-T c.13001G>A p.R4334Q Missense 52/59 - 1
7-151846012-G-A c.13000C>T p.R4334W Missense 52/59 - 4
7-151846014-G-A c.12998C>T p.P4333L Missense 52/59 - 1
7-151846017-T-C c.12995A>G p.K4332R Missense 52/59 - 1
7-151846016-CT-C c.12995del p.K4332Sfs*4 Frameshift 52/59 - 1
7-151846018-T-C c.12994A>G p.K4332E Missense 52/59 - 1
7-151846020-A-T c.12992T>A p.L4331Q Missense 52/59 - 1
7-151846027-CTG-C c.12983_12984del p.T4328Sfs*15 Frameshift 52/59 - 3
7-151846029-G-T c.12983C>A p.T4328K Missense 52/59 - 1
7-151846035-T-G c.12977A>C p.K4326T Missense 52/59 - 1
7-151846037-C-A c.12975G>T p.L4325= Synonymous 52/59 - 3
7-151846037-C-G c.12975G>C p.L4325= Synonymous 52/59 - 2
7-151846037-C-T c.12975G>A p.L4325= Synonymous 52/59 - 4
7-151846039-G-A c.12973C>T p.L4325= Synonymous 52/59 - 3
7-151846041-T-C c.12971A>G p.E4324G Missense 52/59 - 1
7-151846043-A-AT c.12968dup p.D4323Efs*2 Frameshift 52/59 - 1
7-151846047-G-A c.12965C>T p.P4322L Missense 52/59 - 1
7-151846048-G-A c.12964C>T p.P4322S Missense 52/59 - 1
7-151846050-T-G c.12962A>C p.K4321T Missense 52/59 - 1
7-151846057-C-T c.12955G>A p.E4319K Missense 52/59 - 3
7-151846058-G-A c.12954C>T p.V4318= Synonymous 52/59 - 4
7-151846058-G-C c.12954C>G p.V4318= Synonymous 52/59 - 1
7-151846058-G-T c.12954C>A p.V4318= Synonymous 52/59 - 1
7-151846063-G-A c.12949C>T p.Q4317* Nonsense 52/59 - 2
7-151846077-G-A c.12935C>T p.A4312V Missense 52/59 - 1
7-151846077-G-T c.12935C>A p.A4312D Missense 52/59 - 4
7-151846078-C-G c.12934G>C p.A4312P Missense 52/59 - 1
7-151846079-A-G c.12933T>C p.P4311= Synonymous 52/59 - 1
7-151846081-G-A c.12931C>T p.P4311S Missense 52/59 - 1
7-151846083-G-A c.12929C>T p.P4310L Missense 52/59 - 2
7-151846090-C-T c.12922G>A p.A4308T Missense 52/59 - 1
7-151846091-G-A c.12921C>T p.I4307= Synonymous 52/59 - 6
7-151846091-G-T c.12921C>A p.I4307= Synonymous 52/59 - 5
7-151846095-G-A c.12917C>T p.P4306L Missense 52/59 - 3
7-151846093-T-TG c.12918dup p.I4307Hfs*8 Frameshift 52/59 - 1
7-151846098-G-C c.12914C>G p.P4305R Missense 52/59 - 1
7-151846104-G-A c.12908C>T p.A4303V Missense 52/59 - 1
7-151846106-CA-C c.12906del p.A4303Pfs*23 Frameshift 52/59 - 1
7-151846108-G-A c.12904C>T p.P4302S Missense 52/59 - 2
7-151846108-G-T c.12904C>A p.P4302T Missense 52/59 - 1
7-151846109-G-A c.12903C>T p.P4301= Synonymous 52/59 - 3
7-151846109-G-C c.12903C>G p.P4301= Synonymous 52/59 - 3
7-151846109-G-T c.12903C>A p.P4301= Synonymous 52/59 - 4
7-151846110-G-T c.12902C>A p.P4301H Missense 52/59 - 1
7-151846106-AG-A c.12905del p.P4302Lfs*24 Frameshift 52/59 - 3
7-151846111-G-A c.12901C>T p.P4301S Missense 52/59 - 1
7-151846111-G-C c.12901C>G p.P4301A Missense 52/59 - 2
7-151846112-A-C c.12900T>G p.S4300= Synonymous 52/59 - 2
7-151846112-A-G c.12900T>C p.S4300= Synonymous 52/59 - 2
7-151846112-A-T c.12900T>A p.S4300= Synonymous 52/59 - 3
7-151846113-G-T c.12899C>A p.S4300Y Missense 52/59 - 1
7-151846114-A-C c.12898T>G p.S4300A Missense 52/59 - 3
7-151846114-A-G c.12898T>C p.S4300P Missense 52/59 - 5
7-151846115-A-C c.12897T>G p.A4299= Synonymous 52/59 - 2
7-151846115-A-G c.12897T>C p.A4299= Synonymous 52/59 - 1
7-151846115-A-T c.12897T>A p.A4299= Synonymous 52/59 - 1
7-151846117-C-T c.12895G>A p.A4299T Missense 52/59 - 3
7-151846122-T-C c.12890A>G p.E4297G Missense 52/59 - 1
7-151846124-T-A c.12888A>T p.P4296= Synonymous 52/59 - 1
7-151846124-T-C c.12888A>G p.P4296= Synonymous 52/59 - 1
7-151846124-T-G c.12888A>C p.P4296= Synonymous 52/59 - 2
7-151846126-G-A c.12886C>T p.P4296S Missense 52/59 - 1
7-151846126-G-T c.12886C>A p.P4296T Missense 52/59 - 1
7-151846127-G-A c.12885C>T p.L4295= Synonymous 52/59 - 1
7-151846122-TCTGGGAG-T c.12883_12889del p.L4295Rfs*29 Frameshift 52/59 - 1
7-151846128-A-G c.12884T>C p.L4295P Missense 52/59 - 1
7-151846129-G-A c.12883C>T p.L4295F Missense 52/59 - 1
7-151846131-T-G c.12881A>C p.Q4294P Missense 52/59 - 1
7-151846132-G-A c.12880C>T p.Q4294* Nonsense 52/59 - 1
7-151846131-TG-T c.12880del p.Q4294Sfs*32 Frameshift 52/59 - 2
7-151846138-G-T c.12874C>A p.L4292I Missense 52/59 - 1
7-151846144-G-A c.12868C>T p.H4290Y Missense 52/59 - 1
7-151846145-C-A c.12867G>T p.V4289= Synonymous 52/59 - 2
7-151846145-CAC-GAT c.12865_12867delinsATC p.V4289I Missense 52/59 - 1
7-151846145-C-G c.12867G>C p.V4289= Synonymous 52/59 - 2
7-151846145-C-T c.12867G>A p.V4289= Synonymous 52/59 - 2
7-151846147-C-T c.12865G>A p.V4289M Missense 52/59 - 1
7-151846148-A-C c.12864T>G p.D4288E Missense 52/59 - 2
7-151846148-A-T c.12864T>A p.D4288E Missense 52/59 - 1
7-151846151-C-A c.12861G>T p.L4287F Missense 52/59 - 1
7-151846156-T-C c.12856A>G p.T4286A Missense 52/59 - 1
7-151846162-T-C c.12850A>G p.I4284V Missense 52/59 - 1
7-151846164-T-A c.12848A>T p.N4283I Missense 52/59 - 1
7-151846165-T-G c.12847A>C p.N4283H Missense 52/59 - 4
7-151846166-G-C c.12846C>G p.N4282K Missense 52/59 - 1
7-151846166-G-T c.12846C>A p.N4282K Missense 52/59 - 1
7-151846177-G-A c.12835C>T p.Q4279* Nonsense 52/59 - 1
7-151846180-G-A c.12832C>T p.H4278Y Missense 52/59 - 1
7-151846183-A-T c.12829T>A p.F4277I Missense 52/59 - 1
7-151846187-T-A c.12825A>T p.K4275N Missense 52/59 - 1
7-151846187-T-G c.12825A>C p.K4275N Missense 52/59 - 1
7-151846195-G-A c.12817C>T p.P4273S Missense 52/59 - 1
7-151846195-G-GA c.12816_12817insT p.P4273Sfs*42 Frameshift 52/59 - 1
7-151846196-C-A c.12816G>T p.T4272= Synonymous 52/59 - 2
7-151846196-C-G c.12816G>C p.T4272= Synonymous 52/59 - 2
7-151846196-C-T c.12816G>A p.T4272= Synonymous 52/59 - 2
7-151846197-G-A c.12815C>T p.T4272M Missense 52/59 - 3
7-151846202-TCT-ATG c.12808_12810delinsCAT p.R4270H Missense 52/59 - 1
7-151846202-TCT-CCA c.12808_12810delinsTGG p.R4270W Missense 52/59 - 2
7-151846204-T-A c.12808A>T p.R4270* Nonsense 52/59 - 1
7-151846205-C-A c.12807G>T p.M4269I Missense 52/59 - 1
7-151846206-A-G c.12806T>C p.M4269T Missense 52/59 - 2
7-151846211-T-A c.12801A>T p.S4267= Synonymous 52/59 - 1
7-151846211-T-C c.12801A>G p.S4267= Synonymous 52/59 - 1
7-151846211-T-G c.12801A>C p.S4267= Synonymous 52/59 - 1
7-151846213-A-G c.12799T>C p.S4267P Missense 52/59 - 1
7-151846214-T-C c.12798A>G p.Q4266= Synonymous 52/59 - 2
7-151846213-A-AT c.12798dup p.S4267Ifs*48 Frameshift 52/59 - 1
7-151846216-G-A c.12796C>T p.Q4266* Nonsense 52/59 - 1
7-151846221-A-T c.12791T>A p.L4264* Nonsense 52/59 - 1
7-151846223-T-G c.12789A>C p.S4263= Synonymous 52/59 - 1
7-151846224-G-C c.12788C>G p.S4263* Nonsense 52/59 - 1
7-151846224-G-T c.12788C>A p.S4263* Nonsense 52/59 - 1
7-151846233-G-C c.12779C>G p.S4260C Missense 52/59 - 6
7-151846237-C-A c.12775G>T p.E4259* Nonsense 52/59 - 1
7-151846237-C-T c.12775G>A p.E4259K Missense 52/59 - 3
7-151847070-C-T c.12775-833G>A - IntronicSNV - 51/58 1
7-151847721-A-C c.12774+264T>G - IntronicSNV - 51/58 1
7-151847753-C-T c.12774+232G>A - IntronicSNV - 51/58 1
7-151847814-C-T c.12774+171G>A - IntronicSNV - 51/58 1
7-151847946-G-A c.12774+39C>T - IntronicSNV - 51/58 5
7-151847946-G-C c.12774+39C>G - IntronicSNV - 51/58 3
7-151847968-G-C c.12774+17C>G - IntronicSNV - 51/58 1
7-151847978-A-C c.12774+7T>G - IntronicSNV - 51/58 1
7-151847979-T-C c.12774+6A>G - IntronicSNV - 51/58 1
7-151847984-C-A c.12774+1G>T - IntronicSNV - 51/58 1
7-151847985-C-A c.12774G>T p.K4258N Missense 51/59 - 3
7-151847985-C-G c.12774G>C p.K4258N Missense 51/59 - 1
7-151847985-C-T c.12774G>A p.K4258= Synonymous 51/59 - 1
7-151847992-T-A c.12767A>T p.E4256V Missense 51/59 - 1
7-151847993-C-T c.12766G>A p.E4256K Missense 51/59 - 1
7-151847995-G-C c.12764C>G p.S4255* Nonsense 51/59 - 4
7-151847995-G-T c.12764C>A p.S4255* Nonsense 51/59 - 3
7-151847996-A-G c.12763T>C p.S4255P Missense 51/59 - 2
7-151848000-T-G c.12759A>C p.K4253N Missense 51/59 - 1
7-151848003-C-A c.12756G>T p.A4252= Synonymous 51/59 - 1
7-151848003-C-G c.12756G>C p.A4252= Synonymous 51/59 - 1
7-151848003-C-T c.12756G>A p.A4252= Synonymous 51/59 - 1
7-151848004-G-A c.12755C>T p.A4252V Missense 51/59 - 7
7-151848006-T-G c.12753A>C p.Q4251H Missense 51/59 - 1
7-151848014-T-C c.12745A>G p.T4249A Missense 51/59 - 5
7-151848016-G-C c.12743C>G p.S4248* Nonsense 51/59 - 3
7-151848016-G-T c.12743C>A p.S4248* Nonsense 51/59 - 2
7-151848019-G-A c.12740C>T p.S4247L Missense 51/59 - 1
7-151848019-G-C c.12740C>G p.S4247* Nonsense 51/59 - 3
7-151848019-G-T c.12740C>A p.S4247* Nonsense 51/59 - 3
7-151848022-T-A c.12737A>T p.Y4246F Missense 51/59 - 1
7-151848022-T-C c.12737A>G p.Y4246C Missense 51/59 - 1
7-151848023-A-AAAGGATAAAACAGTTGTTGCTACAAAATACGAT c.12735_12736insATCGTATTTTGTAGCAACAACTGTTTTATCCTT p.I4235_L4245dup InFrameInsertion 51/59 - 1
7-151848026-G-C c.12733C>G p.L4245V Missense 51/59 - 2
7-151848028-A-C c.12731T>G p.I4244S Missense 51/59 - 2
7-151848036-GTTA-G c.12720_12722del p.N4241del InFrameDeletion 51/59 - 1
7-151848037-TTATTAC-T c.12716_12721del p.S4239_N4240del InFrameDeletion 51/59 - 4
7-151848041-T-TA c.12717dup p.N4240* Nonsense 51/59 - 1
7-151848043-C-T c.12716G>A p.S4239N Missense 51/59 - 1
7-151848048-G-A c.12711C>T p.F4237= Synonymous 51/59 - 2
7-151848053-C-CTGCACAGCTGAAGATCACTTATAGTCAAT c.12705_12706insATTGACTATAAGTGATCTTCAGCTGTGCA p.V4236Ifs*5 Frameshift 51/59 - 1
7-151848056-T-C c.12703A>G p.I4235V Missense 51/59 - 2
7-151848058-T-A c.12701A>T p.D4234V Missense 51/59 - 1
7-151848059-C-T c.12700G>A p.D4234N Missense 51/59 - 1
7-151848061-T-C c.12698A>G p.K4233R Missense 51/59 - 1
7-151848063-C-A c.12696G>T p.E4232D Missense 51/59 - 4
7-151848063-C-G c.12696G>C p.E4232D Missense 51/59 - 5
7-151848065-C-G c.12694G>C p.E4232Q Missense 51/59 - 5
7-151848066-T-A c.12693A>T p.V4231= Synonymous 51/59 - 2
7-151848066-T-C c.12693A>G p.V4231= Synonymous 51/59 - 3
7-151848066-T-G c.12693A>C p.V4231= Synonymous 51/59 - 2
7-151848068-C-T c.12691G>A p.V4231I Missense 51/59 - 1
7-151848069-CCT-C c.12688_12689del p.R4230Gfs*9 Frameshift 51/59 - 1
7-151848073-T-A c.12686A>T p.K4229M Missense 51/59 - 1
7-151848074-T-C c.12685A>G p.K4229E Missense 51/59 - 2
7-151848079-C-T c.12680G>A p.S4227N Missense 51/59 - 1
7-151848082-T-C c.12677A>G p.E4226G Missense 51/59 - 1
7-151848085-C-A c.12674G>T p.R4225L Missense 51/59 - 1
7-151848085-C-T c.12674G>A p.R4225Q Missense 51/59 - 4
7-151848086-G-A c.12673C>T p.R4225* Nonsense 51/59 - 7
7-151848318-C-T c.12666+209G>A - IntronicSNV - 50/58 1
7-151848527-C-A c.12666G>T p.K4222N Missense 50/59 - 1
7-151848531-T-A c.12662A>T p.N4221I Missense 50/59 - 1
7-151848533-C-T c.12660G>A p.L4220= Synonymous 50/59 - 3
7-151848535-A-G c.12658T>C p.L4220= Synonymous 50/59 - 2
7-151848533-C-CA c.12659dup p.L4220Ffs*20 Frameshift 50/59 - 1
7-151848538-G-A c.12655C>T p.L4219F Missense 50/59 - 1
7-151848538-G-C c.12655C>G p.L4219V Missense 50/59 - 11
7-151848538-G-T c.12655C>A p.L4219I Missense 50/59 - 4
7-151848539-G-A c.12654C>T p.T4218= Synonymous 50/59 - 1
7-151848544-G-A c.12649C>T p.L4217= Synonymous 50/59 - 2
7-151848544-G-C c.12649C>G p.L4217V Missense 50/59 - 1
7-151848544-G-T c.12649C>A p.L4217M Missense 50/59 - 4
7-151848547-C-T c.12646G>A p.D4216N Missense 50/59 - 1
7-151848548-T-A c.12645A>T p.K4215N Missense 50/59 - 1
7-151848548-T-G c.12645A>C p.K4215N Missense 50/59 - 2
7-151848547-C-CT c.12645dup p.D4216Rfs*24 Frameshift 50/59 - 2
7-151848551-G-C c.12642C>G p.F4214L Missense 50/59 - 1
7-151848553-A-G c.12640T>C p.F4214L Missense 50/59 - 1
7-151848555-GA-AG c.12637_12638delinsCT p.S4213L Missense 50/59 - 1
7-151848556-GA-G c.12637del p.S4213Lfs*5 Frameshift 50/59 - 1
7-151848557-T-C c.12636A>G p.K4212= Synonymous 50/59 - 1
7-151848558-T-A c.12635A>T p.K4212I Missense 50/59 - 1
7-151848556-AT-A c.12636del p.K4212Nfs*6 Frameshift 50/59 - 1
7-151848559-T-A c.12634A>T p.K4212* Nonsense 50/59 - 2
7-151848561-C-T c.12632G>A p.R4211Q Missense 50/59 - 5
7-151848562-G-A c.12631C>T p.R4211W Missense 50/59 - 4
7-151848568-C-G c.12625G>C p.G4209R Missense 50/59 - 1
7-151848569-A-C c.12624T>G p.S4208R Missense 50/59 - 1
7-151848569-A-T c.12624T>A p.S4208R Missense 50/59 - 1
7-151848571-T-G c.12622A>C p.S4208R Missense 50/59 - 1
7-151848570-C-G c.12623G>C p.S4208T Missense 50/59 - 1
7-151848570-C-T c.12623G>A p.S4208N Missense 50/59 - 1
7-151848570-CT-AG c.12622_12623inv p.S4208L Missense 50/59 - 1
7-151848574-C-G c.12619G>C p.G4207R Missense 50/59 - 3
7-151848574-C-T c.12619G>A p.G4207R Missense 50/59 - 3
7-151848582-AACCACTT-A c.12605_12611del p.K4202Ifs*14 Frameshift 50/59 - 1
7-151848583-C-T c.12610G>A p.V4204I Missense 50/59 - 1
7-151848585-A-C c.12608T>G p.V4203G Missense 50/59 - 1
7-151848586-C-G c.12607G>C p.V4203L Missense 50/59 - 1
7-151848587-T-A c.12606A>T p.K4202N Missense 50/59 - 1
7-151848587-T-G c.12606A>C p.K4202N Missense 50/59 - 1
7-151848581-AACCACTTTACAATGACAAC-A c.12593_12611del p.C4198Lfs*14 Frameshift 50/59 - 2
7-151848589-T-A c.12604A>T p.K4202* Nonsense 50/59 - 1
7-151848594-T-G c.12599A>C p.H4200P Missense 50/59 - 1
7-151848594-T-TTA c.12598_12599insTA p.H4200Lfs*19 Frameshift 50/59 - 1
7-151848597-AC-A c.12596del p.C4199Ffs*19 Frameshift 50/59 - 1
7-151848597-C-G c.12596G>C p.C4199S Missense 50/59 - 1
7-151848598-A-G c.12595T>C p.C4199R Missense 50/59 - 3
7-151848598-A-T c.12595T>A p.C4199S Missense 50/59 - 1
7-151848602-C-T c.12591G>A p.W4197* Nonsense 50/59 - 3
7-151848603-C-T c.12590G>A p.W4197* Nonsense 50/59 - 3
7-151848604-A-C c.12589T>G p.W4197G Missense 50/59 - 1
7-151848607-G-A c.12586C>T p.Q4196* Nonsense 50/59 - 2
7-151848609-G-A c.12584C>T p.P4195L Missense 50/59 - 1
7-151848612-C-G c.12581G>C p.R4194T Missense 50/59 - 3
7-151848616-G-C c.12577C>G p.L4193V Missense 50/59 - 1
7-151848617-T-A c.12576A>T p.A4192= Synonymous 50/59 - 2
7-151848617-T-C c.12576A>G p.A4192= Synonymous 50/59 - 1
7-151848617-T-G c.12576A>C p.A4192= Synonymous 50/59 - 1
7-151848619-C-T c.12574G>A p.A4192T Missense 50/59 - 1
7-151848622-C-G c.12571G>C p.A4191P Missense 50/59 - 1
7-151848622-C-T c.12571G>A p.A4191T Missense 50/59 - 3
7-151848623-G-A c.12570C>T p.S4190= Synonymous 50/59 - 4
7-151848624-C-T c.12569G>A p.S4190N Missense 50/59 - 2
7-151848627-T-C c.12566A>G p.E4189G Missense 50/59 - 1
7-151848626-TTC-T c.12565_12566del p.E4189Kfs*13 Frameshift 50/59 - 1
7-151848636-C-T c.12557G>A p.G4186D Missense 50/59 - 9
7-151848637-C-A c.12556G>T p.G4186C Missense 50/59 - 2
7-151848638-A-G c.12555T>C p.H4185= Synonymous 50/59 - 2
7-151848639-T-C c.12554A>G p.H4185R Missense 50/59 - 1
7-151848641-ACT-TCA c.12550_12552delinsTGA p.S4184* Nonsense 50/59 - 1
7-151848642-C-T c.12551G>A p.S4184N Missense 50/59 - 1
7-151848645-G-A c.12548C>T p.S4183F Missense 50/59 - 1
7-151848645-G-C c.12548C>G p.S4183C Missense 50/59 - 1
7-151848646-A-G c.12547T>C p.S4183P Missense 50/59 - 1
7-151848649-C-T c.12544G>A p.D4182N Missense 50/59 - 1
7-151848650-C-A c.12543G>T p.K4181N Missense 50/59 - 2
7-151848650-C-G c.12543G>C p.K4181N Missense 50/59 - 1
7-151848653-A-ATT c.12539_12540insAA p.Y4180* Nonsense 50/59 - 1
7-151848655-A-ACCTTCTTATCCTTGGCCTTGGCTCTT c.12537_12538insAAGAGCCAAGGCCAAGGATAAGAAGG p.Y4180Kfs*7 Frameshift 50/59 - 1
7-151848655-A-G c.12538T>C p.Y4180H Missense 50/59 - 1
7-151848657-C-T c.12536G>A p.G4179E Missense 50/59 - 2
7-151849790-C-A c.12526G>T p.G4176C Missense 49/59 - 1
7-151849790-C-G c.12526G>C p.G4176R Missense 49/59 - 2
7-151849792-T-C c.12524A>G p.N4175S Missense 49/59 - 1
7-151849794-G-C c.12522C>G p.S4174R Missense 49/59 - 1
7-151849795-C-T c.12521G>A p.S4174N Missense 49/59 - 1
7-151849795-CT-TA c.12520_12521delinsTA p.S4174Y Missense 49/59 - 1
7-151849798-G-A c.12518C>T p.T4173I Missense 49/59 - 1
7-151849801-G-A c.12515C>T p.P4172L Missense 49/59 - 2
7-151849808-A-G c.12508T>C p.F4170L Missense 49/59 - 1
7-151849808-A-T c.12508T>A p.F4170I Missense 49/59 - 1
7-151849821-C-A c.12495G>T p.Q4165H Missense 49/59 - 4
7-151849821-C-G c.12495G>C p.Q4165H Missense 49/59 - 3
7-151849822-T-C c.12494A>G p.Q4165R Missense 49/59 - 1
7-151849825-T-C c.12491A>G p.K4164R Missense 49/59 - 1
7-151849829-G-A c.12487C>T p.L4163= Synonymous 49/59 - 2
7-151849831-C-T c.12485G>A p.R4162Q Missense 49/59 - 2
7-151849830-C-A c.12486G>T p.R4162= Synonymous 49/59 - 3
7-151849830-C-G c.12486G>C p.R4162= Synonymous 49/59 - 3
7-151849830-C-T c.12486G>A p.R4162= Synonymous 49/59 - 3
7-151849832-G-A c.12484C>T p.R4162W Missense 49/59 - 1
7-151849832-G-T c.12484C>A p.R4162= Synonymous 49/59 - 3
7-151849833-G-T c.12483C>A p.Y4161* Nonsense 49/59 - 1
7-151849834-T-G c.12482A>C p.Y4161S Missense 49/59 - 2
7-151849840-C-T c.12476G>A p.S4159N Missense 49/59 - 1
7-151849844-C-T c.12472G>A p.V4158M Missense 49/59 - 1
7-151849845-T-A c.12471A>T p.L4157F Missense 49/59 - 1
7-151849845-T-C c.12471A>G p.L4157= Synonymous 49/59 - 1
7-151849845-T-G c.12471A>C p.L4157F Missense 49/59 - 1
7-151849846-A-ATT c.12469_12470insAA p.L4157* Nonsense 49/59 - 1
7-151849846-A-C c.12470T>G p.L4157* Nonsense 49/59 - 3
7-151849846-A-T c.12470T>A p.L4157* Nonsense 49/59 - 3
7-151849845-TA-T c.12470del p.L4157* Frameshift 49/59 - 2
7-151849847-A-G c.12469T>C p.L4157= Synonymous 49/59 - 1
7-151849848-T-C c.12468A>G p.R4156= Synonymous 49/59 - 1
7-151849851-G-A c.12465C>T p.P4155= Synonymous 49/59 - 1
7-151849851-G-C c.12465C>G p.P4155= Synonymous 49/59 - 1
7-151849851-G-T c.12465C>A p.P4155= Synonymous 49/59 - 1
7-151849853-G-A c.12463C>T p.P4155S Missense 49/59 - 1
7-151849861-G-A c.12455C>T p.A4152V Missense 49/59 - 1
7-151849862-C-G c.12454G>C p.A4152P Missense 49/59 - 1
7-151849864-G-A c.12452C>T p.S4151F Missense 49/59 - 2
7-151849867-C-T c.12449G>A p.G4150E Missense 49/59 - 1
7-151849868-C-A c.12448G>T p.G4150* Nonsense 49/59 - 1
7-151849868-C-G c.12448G>C p.G4150R Missense 49/59 - 1
7-151849868-C-T c.12448G>A p.G4150R Missense 49/59 - 1
7-151849870-G-A c.12446C>T p.P4149L Missense 49/59 - 2
7-151849872-C-A c.12444G>T p.P4148= Synonymous 49/59 - 2
7-151849872-C-G c.12444G>C p.P4148= Synonymous 49/59 - 2
7-151849872-C-T c.12444G>A p.P4148= Synonymous 49/59 - 2
7-151849873-G-A c.12443C>T p.P4148L Missense 49/59 - 4
7-151849874-G-A c.12442C>T p.P4148S Missense 49/59 - 1
7-151849875-A-AG c.12440dup p.P4148Sfs*20 Frameshift 49/59 - 1
7-151849875-AGGCCCAC-A c.12434_12440del p.R4145Lfs*11 Frameshift 49/59 - 2
7-151849879-C-A c.12437G>T p.G4146V Missense 49/59 - 1
7-151849882-C-T c.12434G>A p.R4145H Missense 49/59 - 3
7-151849883-G-A c.12433C>T p.R4145C Missense 49/59 - 8
7-151849884-G-A c.12432C>T p.L4144= Synonymous 49/59 - 1
7-151849884-G-C c.12432C>G p.L4144= Synonymous 49/59 - 1
7-151849884-G-T c.12432C>A p.L4144= Synonymous 49/59 - 1
7-151849885-A-G c.12431T>C p.L4144P Missense 49/59 - 2
7-151849886-G-C c.12430C>G p.L4144V Missense 49/59 - 3
7-151849886-G-T c.12430C>A p.L4144I Missense 49/59 - 3
7-151849891-A-G c.12425T>C p.L4142S Missense 49/59 - 5
7-151849898-G-A c.12418C>T p.Q4140* Nonsense 49/59 - 1
7-151849901-G-A c.12415C>T p.R4139* Nonsense 49/59 - 17
7-151849903-T-A c.12413A>T p.Y4138F Missense 49/59 - 1
7-151849905-C-A c.12411G>T p.E4137D Missense 49/59 - 1
7-151849905-C-G c.12411G>C p.E4137D Missense 49/59 - 1
7-151849907-C-A c.12409G>T p.E4137* Nonsense 49/59 - 2
7-151849907-C-T c.12409G>A p.E4137K Missense 49/59 - 7
7-151849909-A-T c.12407T>A p.L4136* Nonsense 49/59 - 1
7-151849908-C-T c.12408G>A p.L4136= Synonymous 49/59 - 2
7-151849910-A-C c.12406T>G p.L4136V Missense 49/59 - 1
7-151849910-A-G c.12406T>C p.L4136= Synonymous 49/59 - 1
7-151849913-C-T c.12403G>A p.G4135S Missense 49/59 - 1
7-151849915-G-A c.12401C>T p.P4134L Missense 49/59 - 3
7-151849915-G-T c.12401C>A p.P4134Q Missense 49/59 - 1
7-151849921-A-G c.12395T>C p.I4132T Missense 49/59 - 1
7-151849922-T-C c.12394A>G p.I4132V Missense 49/59 - 2
7-151849924-C-A c.12392G>T p.R4131I Missense 49/59 - 2
7-151849924-C-T c.12392G>A p.R4131K Missense 49/59 - 1
7-151849933-C-A c.12383G>T p.S4128I Missense 49/59 - 2
7-151849933-CT-AA c.12382_12383delinsTT p.S4128F Missense 49/59 - 1
7-151849933-CT-AG c.12382_12383inv p.S4128L Missense 49/59 - 1
7-151849938-C-A c.12378G>T p.L4126F Missense 49/59 - 1
7-151849938-C-G c.12378G>C p.L4126F Missense 49/59 - 1
7-151849939-A-T c.12377T>A p.L4126* Nonsense 49/59 - 1
7-151849942-C-T c.12374G>A p.G4125D Missense 49/59 - 1
7-151849945-A-G c.12371T>C p.M4124T Missense 49/59 - 1
7-151849946-T-C c.12370A>G p.M4124V Missense 49/59 - 3
7-151849947-G-A c.12369C>T p.S4123= Synonymous 49/59 - 1
7-151849948-G-A c.12368C>T p.S4123F Missense 49/59 - 1
7-151849948-GA-AG c.12367_12368delinsCT p.S4123L Missense 49/59 - 1
7-151849949-A-G c.12367T>C p.S4123P Missense 49/59 - 1
7-151849950-T-A c.12366A>T p.P4122= Synonymous 49/59 - 1
7-151849950-T-C c.12366A>G p.P4122= Synonymous 49/59 - 1
7-151849950-T-G c.12366A>C p.P4122= Synonymous 49/59 - 1
7-151849951-G-A c.12365C>T p.P4122L Missense 49/59 - 1
7-151849951-G-T c.12365C>A p.P4122Q Missense 49/59 - 1
7-151849952-G-A c.12364C>T p.P4122S Missense 49/59 - 1
7-151849954-A-T c.12362T>A p.V4121D Missense 49/59 - 1
7-151849955-C-T c.12361G>A p.V4121I Missense 49/59 - 1
7-151849958-C-A c.12358G>T p.D4120Y Missense 49/59 - 1
7-151849959-T-A c.12357A>T p.P4119= Synonymous 49/59 - 1
7-151849959-T-C c.12357A>G p.P4119= Synonymous 49/59 - 1
7-151849959-T-G c.12357A>C p.P4119= Synonymous 49/59 - 1
7-151849960-G-A c.12356C>T p.P4119L Missense 49/59 - 5
7-151849960-G-T c.12356C>A p.P4119Q Missense 49/59 - 1
7-151849961-G-A c.12355C>T p.P4119S Missense 49/59 - 1
7-151849962-A-C c.12354T>G p.A4118= Synonymous 49/59 - 1
7-151849963-G-A c.12353C>T p.A4118V Missense 49/59 - 1
7-151849963-G-T c.12353C>A p.A4118D Missense 49/59 - 1
7-151849973-C-A c.12343G>T p.V4115F Missense 49/59 - 1
7-151849976-C-G c.12340G>C p.E4114Q Missense 49/59 - 1
7-151849976-C-T c.12340G>A p.E4114K Missense 49/59 - 5
7-151849977-A-C c.12339T>G p.Y4113* Nonsense 49/59 - 2
7-151849977-A-T c.12339T>A p.Y4113* Nonsense 49/59 - 2
7-151849980-G-A c.12336C>T p.S4112= Synonymous 49/59 - 3
7-151849981-C-T c.12335G>A p.S4112N Missense 49/59 - 1
7-151849987-G-T c.12329C>A p.P4110H Missense 49/59 - 1
7-151849993-C-T c.12323G>A p.R4108Q Missense 49/59 - 1
7-151849994-G-A c.12322C>T p.R4108* Nonsense 49/59 - 10
7-151849997-C-A c.12319G>T p.V4107F Missense 49/59 - 1
7-151849997-C-T c.12319G>A p.V4107I Missense 49/59 - 5
7-151849998-G-A c.12318C>T p.H4106= Synonymous 49/59 - 1
7-151849999-T-A c.12317A>T p.H4106L Missense 49/59 - 1
7-151850001-A-C c.12315T>G p.L4105= Synonymous 49/59 - 2
7-151850001-A-G c.12315T>C p.L4105= Synonymous 49/59 - 1
7-151850001-A-T c.12315T>A p.L4105= Synonymous 49/59 - 1
7-151850002-A-G c.12314T>C p.L4105P Missense 49/59 - 1
7-151850003-G-C c.12313C>G p.L4105V Missense 49/59 - 1
7-151849999-TGAA-T c.12314_12316del p.L4105del InFrameDeletion 49/59 - 2
7-151850006-G-A c.12310C>T p.L4104F Missense 49/59 - 1
7-151850006-G-T c.12310C>A p.L4104I Missense 49/59 - 1
7-151850008-T-C c.12308A>G p.D4103G Missense 49/59 - 1
7-151850009-C-T c.12307G>A p.D4103N Missense 49/59 - 1
7-151850010-G-A c.12306C>T p.S4102= Synonymous 49/59 - 2
7-151850010-G-C c.12306C>G p.S4102= Synonymous 49/59 - 2
7-151850010-G-T c.12306C>A p.S4102= Synonymous 49/59 - 2
7-151850011-GA-G c.12304del p.S4102Pfs*56 Frameshift 49/59 - 1
7-151850020-G-T c.12296C>A p.A4099D Missense 49/59 - 1
7-151850021-C-A c.12295G>T p.A4099S Missense 49/59 - 2
7-151850024-C-A c.12292G>T p.V4098L Missense 49/59 - 1
7-151850024-C-G c.12292G>C p.V4098L Missense 49/59 - 1
7-151850024-C-T c.12292G>A p.V4098M Missense 49/59 - 1
7-151850026-A-C c.12290T>G p.V4097G Missense 49/59 - 2
7-151850030-T-A c.12286A>T p.S4096C Missense 49/59 - 1
7-151850032-C-T c.12284G>A p.S4095N Missense 49/59 - 1
7-151850031-GCTAATGTT-G c.12277_12284del p.N4093Qfs*16 SpliceAcceptorDeletion 49/59 48/58 1
7-151850036-T-G c.12280A>C p.I4094L Missense 49/59 - 2
7-151850037-G-A c.12279C>T p.N4093= Synonymous 49/59 - 1
7-151850037-TG-T c.12279del p.N4093Kfs*65 Frameshift 49/59 - 1
7-151850037-G-GT c.12278dup p.N4093Kfs*3 SpliceAcceptorInsertion - - 1
7-151850042-A-G c.12277-3T>C - IntronicSNV - 48/58 1
7-151851097-C-A c.12274G>T p.E4092* Nonsense 48/59 - 3
7-151851097-C-T c.12274G>A p.E4092K Missense 48/59 - 2
7-151851105-G-A c.12266C>T p.T4089I Missense 48/59 - 1
7-151851107-A-G c.12264T>C p.P4088= Synonymous 48/59 - 1
7-151851112-G-A c.12259C>T p.H4087Y Missense 48/59 - 1
7-151851121-T-C c.12250A>G p.I4084V Missense 48/59 - 1
7-151851121-T-G c.12250A>C p.I4084L Missense 48/59 - 2
7-151851124-C-G c.12247G>C p.A4083P Missense 48/59 - 1
7-151851124-C-T c.12247G>A p.A4083T Missense 48/59 - 1
7-151851125-TAC-T c.12244_12245del p.V4082Sfs*10 Frameshift 48/59 - 1
7-151851129-G-C c.12242C>G p.S4081C Missense 48/59 - 1
7-151851129-G-T c.12242C>A p.S4081Y Missense 48/59 - 2
7-151851129-G-GA c.12241dup p.S4081Ffs*12 Frameshift 48/59 - 1
7-151851130-A-AT c.12240dup p.S4081Ifs*12 Frameshift 48/59 - 3
7-151851131-T-TA c.12239dup p.S4081Ifs*12 Frameshift 48/59 - 1
7-151851132-A-G c.12239T>C p.I4080T Missense 48/59 - 6
7-151851132-A-T c.12239T>A p.I4080K Missense 48/59 - 1
7-151851136-G-C c.12235C>G p.L4079V Missense 48/59 - 1
7-151851136-G-T c.12235C>A p.L4079I Missense 48/59 - 3
7-151851139-C-A c.12232G>T p.G4078C Missense 48/59 - 1
7-151851141-G-C c.12230C>G p.S4077* Nonsense 48/59 - 4
7-151851141-G-T c.12230C>A p.S4077* Nonsense 48/59 - 3
7-151851144-C-A c.12227G>T p.R4076I Missense 48/59 - 1
7-151851144-C-G c.12227G>C p.R4076T Missense 48/59 - 6
7-151851147-G-C c.12224C>G p.P4075R Missense 48/59 - 1
7-151851147-GGGACCATT-G c.12217_12224del p.N4073Qfs*17 Frameshift 48/59 - 1
7-151851150-C-A c.12221G>T p.G4074V Missense 48/59 - 2
7-151851151-C-A c.12220G>T p.G4074C Missense 48/59 - 1
7-151851152-A-T c.12219T>A p.N4073K Missense 48/59 - 1
7-151851159-G-A c.12212C>T p.S4071F Missense 48/59 - 1
7-151851163-G-A c.12208C>T p.P4070S Missense 48/59 - 4
7-151851165-C-A c.12206G>T p.G4069V Missense 48/59 - 2
7-151851165-CC-TT c.12205_12206delinsAA p.G4069N Missense 48/59 - 1
7-151851165-C-G c.12206G>C p.G4069A Missense 48/59 - 1
7-151851166-C-G c.12205G>C p.G4069R Missense 48/59 - 1
7-151851171-G-T c.12200C>A p.P4067H Missense 48/59 - 1
7-151851172-G-A c.12199C>T p.P4067S Missense 48/59 - 1
7-151851176-C-T c.12195G>A p.A4065= Synonymous 48/59 - 4
7-151851177-G-A c.12194C>T p.A4065V Missense 48/59 - 10
7-151851178-C-T c.12193G>A p.A4065T Missense 48/59 - 1
7-151851180-A-G c.12191T>C p.F4064S Missense 48/59 - 2
7-151851186-A-C c.12185T>G p.L4062* Nonsense 48/59 - 1
7-151851188-A-C c.12183T>G p.T4061= Synonymous 48/59 - 2
7-151851188-A-G c.12183T>C p.T4061= Synonymous 48/59 - 1
7-151851188-A-T c.12183T>A p.T4061= Synonymous 48/59 - 1
7-151851196-G-A c.12175C>T p.P4059S Missense 48/59 - 1
7-151851198-T-C c.12173A>G p.E4058G Missense 48/59 - 1
7-151851199-C-A c.12172G>T p.E4058* Nonsense 48/59 - 2
7-151851199-C-G c.12172G>C p.E4058Q Missense 48/59 - 1
7-151851200-A-C c.12171T>G p.T4057= Synonymous 48/59 - 1
7-151851200-A-G c.12171T>C p.T4057= Synonymous 48/59 - 1
7-151851200-A-T c.12171T>A p.T4057= Synonymous 48/59 - 1
7-151851201-G-A c.12170C>T p.T4057I Missense 48/59 - 1
7-151851204-T-C c.12167A>G p.K4056R Missense 48/59 - 2
7-151851206-G-A c.12165C>T p.I4055= Synonymous 48/59 - 4
7-151851206-G-C c.12165C>G p.I4055M Missense 48/59 - 1
7-151851206-G-T c.12165C>A p.I4055= Synonymous 48/59 - 2
7-151851208-T-C c.12163A>G p.I4055V Missense 48/59 - 2
7-151851209-G-A c.12162C>T p.D4054= Synonymous 48/59 - 1
7-151851213-T-C c.12158A>G p.N4053S Missense 48/59 - 1
7-151851215-C-A c.12156G>T p.R4052S Missense 48/59 - 1
7-151851216-C-A c.12155G>T p.R4052M Missense 48/59 - 1
7-151851216-CT-TA c.12154_12155delinsTA p.R4052* Nonsense 48/59 - 5
7-151851219-C-G c.12152G>C p.R4051T Missense 48/59 - 1
7-151851221-T-C c.12150A>G p.S4050= Synonymous 48/59 - 2
7-151851222-G-A c.12149C>T p.S4050L Missense 48/59 - 4
7-151851222-G-C c.12149C>G p.S4050* Nonsense 48/59 - 2
7-151851222-G-T c.12149C>A p.S4050* Nonsense 48/59 - 5
7-151851226-C-A c.12145G>T p.E4049* Nonsense 48/59 - 1
7-151851228-G-C c.12143C>G p.S4048* Nonsense 48/59 - 2
7-151851228-G-T c.12143C>A p.S4048* Nonsense 48/59 - 3
7-151851352-T-A c.12139A>T p.S4047C Missense 47/59 - 1
7-151851352-T-C c.12139A>G p.S4047G Missense 47/59 - 1
7-151851353-T-A c.12138A>T p.K4046N Missense 47/59 - 1
7-151851353-T-G c.12138A>C p.K4046N Missense 47/59 - 1
7-151851360-G-A c.12131C>T p.A4044V Missense 47/59 - 1
7-151851360-G-T c.12131C>A p.A4044D Missense 47/59 - 1
7-151851361-C-T c.12130G>A p.A4044T Missense 47/59 - 1
7-151851363-G-A c.12128C>T p.T4043I Missense 47/59 - 1
7-151851363-G-C c.12128C>G p.T4043S Missense 47/59 - 3
7-151851366-C-T c.12125G>A p.S4042N Missense 47/59 - 1
7-151851367-T-TA c.12123dup p.S4042* Nonsense 47/59 - 1
7-151851369-G-A c.12122C>T p.P4041L Missense 47/59 - 2
7-151851368-AG-A c.12122del p.P4041Lfs*42 Frameshift 47/59 - 1
7-151851370-G-A c.12121C>T p.P4041S Missense 47/59 - 1
7-151851372-A-G c.12119T>C p.L4040P Missense 47/59 - 2
7-151851373-G-C c.12118C>G p.L4040V Missense 47/59 - 1
7-151851376-T-C c.12115A>G p.I4039V Missense 47/59 - 1
7-151851377-T-TTTATGAGGTGGTGTTGGGAGGGAGGCTGGCACATCAACTGTCTTGGGGAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACAGCAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAA c.12113_12114insTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTGCTGTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCCCCAAGACAGTTGATGTGCCAGCCTCCCTCCCAACACCACCTCATAA p.I4039Ffs*85 Frameshift 47/59 - 1
7-151851378-G-A c.12113C>T p.P4038L Missense 47/59 - 1
7-151851379-G-A c.12112C>T p.P4038S Missense 47/59 - 1
7-151851381-A-C c.12110T>G p.I4037S Missense 47/59 - 1
7-151851382-T-G c.12109A>C p.I4037L Missense 47/59 - 4
7-151851383-G-A c.12108C>T p.I4036= Synonymous 47/59 - 1
7-151851387-G-A c.12104C>T p.P4035L Missense 47/59 - 5
7-151851388-G-T c.12103C>A p.P4035T Missense 47/59 - 1
7-151851389-G-A c.12102C>T p.S4034= Synonymous 47/59 - 1
7-151851389-G-C c.12102C>G p.S4034= Synonymous 47/59 - 1
7-151851389-G-T c.12102C>A p.S4034= Synonymous 47/59 - 1
7-151851390-G-A c.12101C>T p.S4034F Missense 47/59 - 3
7-151851390-G-GACTTC c.12100_12101insGAAGT p.S4034* Nonsense 47/59 - 1
7-151851392-C-T c.12099G>A p.P4033= Synonymous 47/59 - 4
7-151851393-G-A c.12098C>T p.P4033L Missense 47/59 - 5
7-151851396-A-G c.12095T>C p.V4032A Missense 47/59 - 1
7-151851397-C-A c.12094G>T p.V4032L Missense 47/59 - 1
7-151851397-C-T c.12094G>A p.V4032M Missense 47/59 - 1
7-151851399-G-A c.12092C>T p.P4031L Missense 47/59 - 2
7-151851399-G-C c.12092C>G p.P4031R Missense 47/59 - 1
7-151851406-G-A c.12085C>T p.P4029S Missense 47/59 - 1
7-151851409-G-C c.12082C>G p.P4028A Missense 47/59 - 1
7-151851412-C-A c.12079G>T p.E4027* Nonsense 47/59 - 1
7-151851415-C-A c.12076G>T p.E4026* Nonsense 47/59 - 2
7-151851415-C-T c.12076G>A p.E4026K Missense 47/59 - 1
7-151851416-C-A c.12075G>T p.K4025N Missense 47/59 - 1
7-151851422-C-A c.12069G>T p.L4023F Missense 47/59 - 1
7-151851423-A-T c.12068T>A p.L4023* Nonsense 47/59 - 1
7-151851428-C-A c.12063G>T p.L4021= Synonymous 47/59 - 4
7-151851428-C-G c.12063G>C p.L4021= Synonymous 47/59 - 1
7-151851428-C-T c.12063G>A p.L4021= Synonymous 47/59 - 1
7-151851430-G-A c.12061C>T p.L4021= Synonymous 47/59 - 5
7-151851430-G-C c.12061C>G p.L4021V Missense 47/59 - 1
7-151851433-C-G c.12058G>C p.D4020H Missense 47/59 - 1
7-151851435-G-GT c.12055_12056insA p.P4019Hfs*24 Frameshift 47/59 - 1
7-151851435-G-T c.12056C>A p.P4019Q Missense 47/59 - 1
7-151851438-T-C c.12053A>G p.Y4018C Missense 47/59 - 2
7-151851440-C-T c.12051G>A p.R4017= Synonymous 47/59 - 1
7-151851442-T-G c.12049A>C p.R4017= Synonymous 47/59 - 1
7-151851443-G-A c.12048C>T p.S4016= Synonymous 47/59 - 4
7-151851446-C-T c.12045G>A p.V4015= Synonymous 47/59 - 1
7-151851447-A-G c.12044T>C p.V4015A Missense 47/59 - 1
7-151851447-CA-C c.12044del p.V4015Gfs*68 Frameshift 47/59 - 1
7-151851451-C-T c.12040G>A p.E4014K Missense 47/59 - 1
7-151851456-C-A c.12035G>T p.G4012V Missense 47/59 - 4
7-151851456-C-G c.12035G>C p.G4012A Missense 47/59 - 5
7-151851463-C-T c.12028G>A p.V4010M Missense 47/59 - 1
7-151851467-C-A c.12024G>T p.E4008D Missense 47/59 - 1
7-151851469-C-A c.12022G>T p.E4008* Nonsense 47/59 - 1
7-151851469-C-G c.12022G>C p.E4008Q Missense 47/59 - 3
7-151851469-TC-T c.12022del p.E4008Rfs*6 Frameshift 47/59 - 1
7-151851469-C-CA c.12021dup p.E4008* Nonsense 47/59 - 1
7-151851471-G-C c.12020C>G p.P4007R Missense 47/59 - 1
7-151851472-G-A c.12019C>T p.P4007S Missense 47/59 - 1
7-151851472-G-C c.12019C>G p.P4007A Missense 47/59 - 1
7-151851477-G-A c.12014C>T p.S4005F Missense 47/59 - 1
7-151851482-G-A c.12009C>T p.P4003= Synonymous 47/59 - 1
7-151851482-G-C c.12009C>G p.P4003= Synonymous 47/59 - 1
7-151851482-G-T c.12009C>A p.P4003= Synonymous 47/59 - 1
7-151851483-G-A c.12008C>T p.P4003L Missense 47/59 - 4
7-151851483-GG-AA c.12007_12008delinsTT p.P4003F Missense 47/59 - 1
7-151851483-G-T c.12008C>A p.P4003H Missense 47/59 - 1
7-151851484-G-A c.12007C>T p.P4003S Missense 47/59 - 5
7-151851484-G-T c.12007C>A p.P4003T Missense 47/59 - 1
7-151851487-C-T c.12004G>A p.V4002I Missense 47/59 - 1
7-151851488-A-G c.12003T>C p.F4001= Synonymous 47/59 - 1
7-151851499-G-A c.11992C>T p.P3998S Missense 47/59 - 1
7-151851505-C-G c.11986G>C p.D3996H Missense 47/59 - 1
7-151851505-C-T c.11986G>A p.D3996N Missense 47/59 - 1
7-151851507-C-T c.11984G>A p.R3995Q Missense 47/59 - 1
7-151851506-T-A c.11985A>T p.R3995= Synonymous 47/59 - 1
7-151851506-T-C c.11985A>G p.R3995= Synonymous 47/59 - 1
7-151851506-T-G c.11985A>C p.R3995= Synonymous 47/59 - 1
7-151851508-CG-C c.11983del p.R3995Efs*19 Frameshift 47/59 - 1
7-151851508-G-A c.11983C>T p.R3995* Nonsense 47/59 - 17
7-151851508-G-T c.11983C>A p.R3995= Synonymous 47/59 - 1
7-151851509-A-T c.11982T>A p.D3994E Missense 47/59 - 1
7-151851511-C-A c.11980G>T p.D3994Y Missense 47/59 - 1
7-151851512-A-C c.11979T>G p.G3993= Synonymous 47/59 - 1
7-151851512-A-G c.11979T>C p.G3993= Synonymous 47/59 - 2
7-151851512-A-T c.11979T>A p.G3993= Synonymous 47/59 - 1
7-151851513-C-A c.11978G>T p.G3993V Missense 47/59 - 1
7-151851516-C-T c.11975G>A p.C3992Y Missense 47/59 - 3
7-151851519-T-C c.11972A>G p.H3991R Missense 47/59 - 1
7-151851520-G-A c.11971C>T p.H3991Y Missense 47/59 - 2
7-151851523-C-G c.11968G>C p.D3990H Missense 47/59 - 1
7-151851524-C-A c.11967G>T p.Q3989H Missense 47/59 - 1
7-151851524-C-G c.11967G>C p.Q3989H Missense 47/59 - 1
7-151851526-G-A c.11965C>T p.Q3989* Nonsense 47/59 - 1
7-151851527-T-C c.11964A>G p.I3988M Missense 47/59 - 1
7-151851544-A-C c.11961-14T>G - IntronicSNV - 46/58 2
7-151851663-G-C c.11961-133C>G - IntronicSNV - 46/58 3
7-151852768-T-A c.11960+227A>T - IntronicSNV - 46/58 1
7-151852997-T-A c.11958A>T p.L3986F Missense 46/59 - 1
7-151852997-T-G c.11958A>C p.L3986F Missense 46/59 - 1
7-151852998-A-G c.11957T>C p.L3986S Missense 46/59 - 2
7-151853002-C-A c.11953G>T p.E3985* Nonsense 46/59 - 2
7-151853002-C-T c.11953G>A p.E3985K Missense 46/59 - 1
7-151853008-G-A c.11947C>T p.Q3983* Nonsense 46/59 - 1
7-151853008-G-C c.11947C>G p.Q3983E Missense 46/59 - 2
7-151853011-T-G c.11944A>C p.N3982H Missense 46/59 - 1
7-151853013-T-G c.11942A>C p.N3981T Missense 46/59 - 1
7-151853021-T-A c.11934A>T p.P3978= Synonymous 46/59 - 1
7-151853021-T-C c.11934A>G p.P3978= Synonymous 46/59 - 1
7-151853021-T-G c.11934A>C p.P3978= Synonymous 46/59 - 1
7-151853022-G-GCAAGATCGGAAGAGCACACGTCTGAACTCCAGTCCCACAGCAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAA c.11932_11933insTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTGCTGTGGGACTGGAGTTCAGACGTGTGCTCTTCCGATCTTG p.P3978delinsLFFFKQKTAYEILLWDWSSDVCSSDLA MultiAAMissense 46/59 - 1
7-151853022-G-T c.11933C>A p.P3978Q Missense 46/59 - 1
7-151853025-G-A c.11930C>T p.T3977I Missense 46/59 - 1
7-151853028-G-T c.11927C>A p.P3976Q Missense 46/59 - 1
7-151853034-G-GGAC c.11920_11921insGTC p.S3974delinsCP MultiAAMissense 46/59 - 1
7-151853034-G-T c.11921C>A p.S3974Y Missense 46/59 - 1
7-151853037-G-A c.11918C>T p.A3973V Missense 46/59 - 1
7-151853037-G-T c.11918C>A p.A3973D Missense 46/59 - 2
7-151853040-G-T c.11915C>A p.P3972Q Missense 46/59 - 3
7-151853045-A-ATT c.11909_11910insAA p.D3970Efs*18 Frameshift 46/59 - 1
7-151853047-C-G c.11908G>C p.D3970H Missense 46/59 - 1
7-151853047-C-T c.11908G>A p.D3970N Missense 46/59 - 1
7-151853050-C-T c.11905G>A p.V3969I Missense 46/59 - 1
7-151853055-T-C c.11900A>G p.K3967R Missense 46/59 - 1
7-151853058-G-A c.11897C>T p.P3966L Missense 46/59 - 1
7-151853012-G-GTTATGAGGTGGTGTTGGGAGGGAGGCTGGCACATCAACTGTCTTGGGGAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACAGCAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAA c.11942_11943insTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTGCTGTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCCCCAAGACAGTTGATGTGCCAGCCTCCCTCCCAACACCACCTCATAA p.N3982Ffs*46 Frameshift 46/59 - 1
7-151853056-T-TG c.11898dup p.K3967Qfs*4 Frameshift 46/59 - 1
7-151853060-G-A c.11895C>T p.G3965= Synonymous 46/59 - 2
7-151853063-C-A c.11892G>T p.Q3964H Missense 46/59 - 1
7-151853063-C-G c.11892G>C p.Q3964H Missense 46/59 - 1
7-151853065-G-A c.11890C>T p.Q3964* Nonsense 46/59 - 2
7-151853068-C-G c.11887G>C p.A3963P Missense 46/59 - 1
7-151853068-C-T c.11887G>A p.A3963T Missense 46/59 - 1
7-151853070-A-C c.11885T>G p.L3962R Missense 46/59 - 1
7-151853072-A-G c.11883T>C p.A3961= Synonymous 46/59 - 1
7-151853073-G-A c.11882C>T p.A3961V Missense 46/59 - 1
7-151853076-C-T c.11879G>A p.R3960Q Missense 46/59 - 2
7-151853077-G-A c.11878C>T p.R3960* Nonsense 46/59 - 6
7-151853079-G-A c.11876C>T p.A3959V Missense 46/59 - 1
7-151853080-C-T c.11875G>A p.A3959T Missense 46/59 - 1
7-151853081-C-A c.11874G>T p.L3958F Missense 46/59 - 1
7-151853081-C-G c.11874G>C p.L3958F Missense 46/59 - 1
7-151853084-C-G c.11871G>C p.L3957F Missense 46/59 - 1
7-151853084-C-T c.11871G>A p.L3957= Synonymous 46/59 - 1
7-151853089-C-A c.11866G>T p.D3956Y Missense 46/59 - 1
7-151853090-G-A c.11865C>T p.D3955= Synonymous 46/59 - 1
7-151853092-C-A c.11863G>T p.D3955Y Missense 46/59 - 1
7-151853093-C-A c.11862G>T p.Q3954H Missense 46/59 - 1
7-151853095-G-A c.11860C>T p.Q3954* Nonsense 46/59 - 1
7-151853095-G-T c.11860C>A p.Q3954K Missense 46/59 - 1
7-151853094-TG-T c.11860del p.Q3954Rfs*33 Frameshift 46/59 - 1
7-151853100-C-A c.11855G>T p.R3952I Missense 46/59 - 1
7-151853104-A-G c.11851T>C p.F3951L Missense 46/59 - 1
7-151853106-G-A c.11849C>T p.P3950L Missense 46/59 - 1
7-151853107-G-A c.11848C>T p.P3950S Missense 46/59 - 3
7-151853111-C-A c.11844G>T p.Q3948H Missense 46/59 - 3
7-151853111-C-G c.11844G>C p.Q3948H Missense 46/59 - 1
7-151853112-T-G c.11843A>C p.Q3948P Missense 46/59 - 1
7-151853113-G-A c.11842C>T p.Q3948* Nonsense 46/59 - 3
7-151853113-G-T c.11842C>A p.Q3948K Missense 46/59 - 1
7-151853118-G-T c.11837C>A p.P3946Q Missense 46/59 - 1
7-151853119-G-A c.11836C>T p.P3946S Missense 46/59 - 4
7-151853120-T-C c.11835A>G p.K3945= Synonymous 46/59 - 2
7-151853121-T-C c.11834A>G p.K3945R Missense 46/59 - 1
7-151853123-A-C c.11832T>G p.P3944= Synonymous 46/59 - 1
7-151853123-A-G c.11832T>C p.P3944= Synonymous 46/59 - 1
7-151853123-A-T c.11832T>A p.P3944= Synonymous 46/59 - 1
7-151853124-G-C c.11831C>G p.P3944R Missense 46/59 - 1
7-151853125-G-A c.11830C>T p.P3944S Missense 46/59 - 1
7-151853128-C-G c.11827G>C p.G3943R Missense 46/59 - 1
7-151853128-C-T c.11827G>A p.G3943R Missense 46/59 - 2
7-151853129-CT-C c.11826del p.G3943Dfs*44 Frameshift 46/59 - 1
7-151853136-T-C c.11819A>G p.K3940R Missense 46/59 - 1
7-151853288-A-G c.11812+2T>C - IntronicSNV - 45/58 1
7-151853289-C-A c.11812+1G>T - IntronicSNV - 45/58 1
7-151853289-C-T c.11812+1G>A - IntronicSNV - 45/58 3
7-151853290-C-A c.11812G>T p.V3938F Missense 45/59 - 1
7-151853290-C-T c.11812G>A p.V3938I Missense 45/59 - 3
7-151853293-C-A c.11809G>T p.E3937* Nonsense 45/59 - 6
7-151853293-TC-T c.11809del p.E3937Kfs*6 Frameshift 45/59 - 1
7-151853294-A-C c.11808T>G p.H3936Q Missense 45/59 - 1
7-151853294-A-T c.11808T>A p.H3936Q Missense 45/59 - 1
7-151853295-T-A c.11807A>T p.H3936L Missense 45/59 - 1
7-151853298-C-T c.11804G>A p.S3935N Missense 45/59 - 1
7-151853301-A-G c.11801T>C p.V3934A Missense 45/59 - 1
7-151853303-TAACACTCCGGCTTTTCCAGCAAGTTCTTCAGTTGTTGCAAAACCATTGG-CTTCTTAAGGCTTACTGCTACTACGCTGATTTATACCCTCTCCCTACAGCTTGCCCTACCGATCT c.11750_11799delinsAGATCGGTAGGGCAAGCTGTAGGGAGAGGGTATAAATCAGCGTAGTAGCAGTAAGCCTTAAGAAG p.A3917_L3933delinsEIGRASCRERV* MultiAAMissense 45/59 - 1
7-151853309-T-C c.11793A>G p.G3931= Synonymous 45/59 - 1
7-151853308-CTCCGGCTT-C c.11786_11793del p.K3929Sfs*6 Frameshift 45/59 - 1
7-151853310-C-T c.11792G>A p.G3931E Missense 45/59 - 3
7-151853311-C-G c.11791G>C p.G3931R Missense 45/59 - 2
7-151853311-C-T c.11791G>A p.G3931R Missense 45/59 - 5
7-151853312-G-A c.11790C>T p.A3930= Synonymous 45/59 - 5
7-151853312-G-C c.11790C>G p.A3930= Synonymous 45/59 - 3
7-151853312-G-T c.11790C>A p.A3930= Synonymous 45/59 - 3
7-151853313-G-A c.11789C>T p.A3930V Missense 45/59 - 1
7-151853313-G-T c.11789C>A p.A3930D Missense 45/59 - 1
7-151853314-C-T c.11788G>A p.A3930T Missense 45/59 - 1
7-151853315-T-A c.11787A>T p.K3929N Missense 45/59 - 3
7-151853315-T-G c.11787A>C p.K3929N Missense 45/59 - 4
7-151853317-T-A c.11785A>T p.K3929* Nonsense 45/59 - 1
7-151853314-CT-C c.11787del p.A3930Pfs*4 Frameshift 45/59 - 1
7-151853323-C-A c.11779G>T p.A3927S Missense 45/59 - 2
7-151853323-C-CA c.11778dup p.A3927Cfs*11 Frameshift 45/59 - 1
7-151853329-C-A c.11773G>T p.E3925* Nonsense 45/59 - 1
7-151853332-C-A c.11770G>T p.E3924* Nonsense 45/59 - 1
7-151853332-C-T c.11770G>A p.E3924K Missense 45/59 - 1
7-151853335-T-A c.11767A>T p.T3923S Missense 45/59 - 1
7-151853340-G-A c.11762C>T p.A3921V Missense 45/59 - 3
7-151853340-G-C c.11762C>G p.A3921G Missense 45/59 - 4
7-151853341-C-T c.11761G>A p.A3921T Missense 45/59 - 2
7-151853340-G-GCAAGATCGGAAGAGCACACGTCTGAACTCCAGTCCCACAGCAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAA c.11761_11762insTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTGCTGTGGGACTGGAGTTCAGACGTGTGCTCTTCCGATCTTG p.F3920_A3921insVFFFKQKTAYEILLWDWSSDVCSSDL InFrameInsertion 45/59 - 1
7-151853346-C-T c.11756G>A p.G3919D Missense 45/59 - 1
7-151853347-C-T c.11755G>A p.G3919S Missense 45/59 - 1
7-151853349-T-C c.11753A>G p.N3918S Missense 45/59 - 2
7-151853352-G-A c.11750C>T p.A3917V Missense 45/59 - 1
7-151853353-C-T c.11749G>A p.A3917T Missense 45/59 - 2
7-151853354-C-A c.11748G>T p.M3916I Missense 45/59 - 2
7-151853361-T-C c.11741A>G p.Q3914R Missense 45/59 - 1
7-151853362-G-A c.11740C>T p.Q3914* Nonsense 45/59 - 1
7-151853362-G-C c.11740C>G p.Q3914E Missense 45/59 - 1
7-151853362-G-T c.11740C>A p.Q3914K Missense 45/59 - 1
7-151853363-A-G c.11739T>C p.C3913= Synonymous 45/59 - 1
7-151853363-A-T c.11739T>A p.C3913* Nonsense 45/59 - 1
7-151853367-G-A c.11735C>T p.A3912V Missense 45/59 - 1
7-151853367-G-T c.11735C>A p.A3912D Missense 45/59 - 1
7-151853368-C-A c.11734G>T p.A3912S Missense 45/59 - 2
7-151853371-T-A c.11731A>T p.M3911L Missense 45/59 - 1
7-151853374-G-A c.11728C>T p.P3910S Missense 45/59 - 1
7-151853377-G-A c.11725C>T p.P3909S Missense 45/59 - 4
7-151853379-G-A c.11723C>T p.P3908L Missense 45/59 - 1
7-151853380-G-A c.11722C>T p.P3908S Missense 45/59 - 1
7-151853380-G-T c.11722C>A p.P3908T Missense 45/59 - 1
7-151853385-G-T c.11717C>A p.P3906H Missense 45/59 - 3
7-151853386-G-A c.11716C>T p.P3906S Missense 45/59 - 2
7-151853388-G-T c.11714C>A p.P3905H Missense 45/59 - 1
7-151853391-A-C c.11711T>G p.L3904R Missense 45/59 - 2
7-151853394-G-A c.11708C>T p.S3903F Missense 45/59 - 3
7-151853397-G-C c.11705C>G p.A3902G Missense 45/59 - 1
7-151853399-AG-A c.11702del p.P3901Lfs*33 Frameshift 45/59 - 1
7-151853404-G-T c.11698C>A p.P3900T Missense 45/59 - 3
7-151853409-G-A c.11693C>T p.P3898L Missense 45/59 - 1
7-151853410-G-C c.11692C>G p.P3898A Missense 45/59 - 5
7-151853413-G-A c.11689C>T p.P3897S Missense 45/59 - 1
7-151853416-T-C c.11686A>G p.N3896D Missense 45/59 - 1
7-151853418-C-G c.11684G>C p.S3895T Missense 45/59 - 1
7-151853419-T-C c.11683A>G p.S3895G Missense 45/59 - 1
7-151853421-A-C c.11681T>G p.L3894* Nonsense 45/59 - 1
7-151853421-A-T c.11681T>A p.L3894* Nonsense 45/59 - 1
7-151853422-A-C c.11680T>G p.L3894V Missense 45/59 - 1
7-151853420-T-TA c.11681dup p.L3894Ffs*3 Frameshift 45/59 - 2
7-151853426-A-C c.11676T>G p.N3892K Missense 45/59 - 1
7-151853426-A-T c.11676T>A p.N3892K Missense 45/59 - 1
7-151853429-C-A c.11673G>T p.Q3891H Missense 45/59 - 1
7-151853429-C-G c.11673G>C p.Q3891H Missense 45/59 - 1
7-151853430-T-C c.11672A>G p.Q3891R Missense 45/59 - 1
7-151853431-G-T c.11671C>A p.Q3891K Missense 45/59 - 1
7-151853463-C-CT c.11671-33dup - IntronicInsertion - 44/58 1
7-151853991-T-A c.11671-560A>T - IntronicSNV - 44/58 1
7-151854862-G-A c.11670+1086C>T - IntronicSNV - 44/58 1
7-151854916-C-T c.11670+1032G>A - IntronicSNV - 44/58 1
7-151854939-A-C c.11670+1009T>G - IntronicSNV - 44/58 1
7-151854944-C-A c.11670+1004G>T - IntronicSNV - 44/58 1
7-151854949-G-T c.11670+999C>A - IntronicSNV - 44/58 1
7-151854958-T-C c.11670+990A>G - IntronicSNV - 44/58 2
7-151854961-G-A c.11670+987C>T - IntronicSNV - 44/58 2
7-151855879-GCA-G c.11670+68_11670+69del - IntronicDeletion - 44/58 1
7-151855880-A-G c.11670+68T>C - IntronicSNV - 44/58 2
7-151855892-C-A c.11670+56G>T - IntronicSNV - 44/58 1
7-151855922-G-A c.11670+26C>T - IntronicSNV - 44/58 1
7-151855922-G-C c.11670+26C>G - IntronicSNV - 44/58 1
7-151855949-CT-C c.11669del p.Q3890Rfs*5 Frameshift 44/59 - 1
7-151855953-T-G c.11665A>C p.K3889Q Missense 44/59 - 5
7-151855954-C-A c.11664G>T p.L3888F Missense 44/59 - 1
7-151855954-C-G c.11664G>C p.L3888F Missense 44/59 - 3
7-151855954-C-T c.11664G>A p.L3888= Synonymous 44/59 - 1
7-151855956-A-G c.11662T>C p.L3888= Synonymous 44/59 - 1
7-151855958-T-A c.11660A>T p.H3887L Missense 44/59 - 4
7-151855958-T-C c.11660A>G p.H3887R Missense 44/59 - 1
7-151855959-G-A c.11659C>T p.H3887Y Missense 44/59 - 2
7-151855959-G-T c.11659C>A p.H3887N Missense 44/59 - 1
7-151855960-G-A c.11658C>T p.T3886= Synonymous 44/59 - 3
7-151855960-G-C c.11658C>G p.T3886= Synonymous 44/59 - 1
7-151855960-G-T c.11658C>A p.T3886= Synonymous 44/59 - 1
7-151855961-G-A c.11657C>T p.T3886I Missense 44/59 - 1
7-151855961-G-T c.11657C>A p.T3886N Missense 44/59 - 1
7-151855967-G-A c.11651C>T p.T3884M Missense 44/59 - 3
7-151855968-T-C c.11650A>G p.T3884A Missense 44/59 - 1
7-151855971-C-T c.11647G>A p.D3883N Missense 44/59 - 1
7-151855971-TC-T c.11647del p.D3883Tfs*6 Frameshift 44/59 - 1
7-151855973-G-A c.11645C>T p.T3882I Missense 44/59 - 5
7-151855973-G-C c.11645C>G p.T3882S Missense 44/59 - 1
7-151855976-C-T c.11642G>A p.S3881N Missense 44/59 - 2
7-151855974-TGCTAGAGTACATA-T c.11631_11643del p.M3878Lfs*7 Frameshift 44/59 - 1
7-151855979-G-T c.11639C>A p.S3880Y Missense 44/59 - 3
7-151855980-A-ACTTGT c.11637_11638insACAAG p.S3880Tfs*11 Frameshift 44/59 - 1
7-151855981-G-C c.11637C>G p.Y3879* Nonsense 44/59 - 1
7-151855981-G-GCTTGT c.11636_11637insACAAG p.Y3879* Nonsense 44/59 - 2
7-151855981-G-T c.11637C>A p.Y3879* Nonsense 44/59 - 1
7-151855982-T-C c.11636A>G p.Y3879C Missense 44/59 - 2
7-151855983-A-T c.11635T>A p.Y3879N Missense 44/59 - 1
7-151855984-C-A c.11634G>T p.M3878I Missense 44/59 - 3
7-151855984-C-CTCT c.11633_11634insAGA p.M3878delinsIE MultiAAMissense 44/59 - 1
7-151855984-C-G c.11634G>C p.M3878I Missense 44/59 - 3
7-151855984-C-T c.11634G>A p.M3878I Missense 44/59 - 3
7-151855992-G-T c.11626C>A p.Q3876K Missense 44/59 - 1
7-151855992-TG-T c.11626del p.Q3876Kfs*13 Frameshift 44/59 - 1
7-151855996-C-T c.11622G>A p.E3874= Synonymous 44/59 - 5
7-151855998-C-A c.11620G>T p.E3874* Nonsense 44/59 - 4
7-151855995-TCTC-T c.11620_11622del p.E3874del InFrameDeletion 44/59 - 2
7-151855999-C-T c.11619G>A p.E3873= Synonymous 44/59 - 1
7-151856001-C-G c.11617G>C p.E3873Q Missense 44/59 - 2
7-151856001-C-T c.11617G>A p.E3873K Missense 44/59 - 2
7-151856004-C-T c.11614G>A p.E3872K Missense 44/59 - 4
7-151856005-G-A c.11613C>T p.D3871= Synonymous 44/59 - 4
7-151856006-T-C c.11612A>G p.D3871G Missense 44/59 - 1
7-151856008-C-A c.11610G>T p.K3870N Missense 44/59 - 2
7-151856008-C-G c.11610G>C p.K3870N Missense 44/59 - 1
7-151856009-T-C c.11609A>G p.K3870R Missense 44/59 - 10
7-151856010-T-TA c.11607_11608insT p.K3870* Nonsense 44/59 - 2
7-151856008-CT-C c.11609del p.K3870Rfs*19 Frameshift 44/59 - 5
7-151856014-CCT-ACA c.11602_11604delinsTGT p.R3868C Missense 44/59 - 1
7-151856014-TCC-T c.11603_11604del p.R3868Kfs*13 Frameshift 44/59 - 1
7-151856013-TC-T c.11604del p.K3870Rfs*19 Frameshift 44/59 - 2
7-151856015-C-A c.11603G>T p.R3868M Missense 44/59 - 2
7-151856017-T-C c.11601A>G p.K3867= Synonymous 44/59 - 2
7-151856014-CCTTTT-C c.11599_11603del p.K3867Efs*13 Frameshift 44/59 - 1
7-151856020-C-A c.11598G>T p.K3866N Missense 44/59 - 3
7-151856020-C-G c.11598G>C p.K3866N Missense 44/59 - 3
7-151856021-T-C c.11597A>G p.K3866R Missense 44/59 - 1
7-151856023-TG-AA c.11594_11595delinsTT p.S3865F Missense 44/59 - 2
7-151856024-G-C c.11594C>G p.S3865* Nonsense 44/59 - 4
7-151856024-G-T c.11594C>A p.S3865* Nonsense 44/59 - 4
7-151856026-GC-TT c.11591_11592delinsAA p.R3864Q Missense 44/59 - 2
7-151856027-C-T c.11591G>A p.R3864H Missense 44/59 - 3
7-151856028-G-A c.11590C>T p.R3864C Missense 44/59 - 2
7-151856030-G-A c.11588C>T p.P3863L Missense 44/59 - 1
7-151856031-G-T c.11587C>A p.P3863T Missense 44/59 - 2
7-151856030-GGT-G c.11586_11587del p.P3863Sfs*18 Frameshift 44/59 - 1
7-151856032-T-A c.11586A>T p.A3862= Synonymous 44/59 - 1
7-151856032-T-C c.11586A>G p.A3862= Synonymous 44/59 - 1
7-151856032-T-G c.11586A>C p.A3862= Synonymous 44/59 - 1
7-151856033-G-T c.11585C>A p.A3862E Missense 44/59 - 2
7-151856036-G-T c.11582C>A p.A3861E Missense 44/59 - 1
7-151856037-C-T c.11581G>A p.A3861T Missense 44/59 - 1
7-151856039-T-C c.11579A>G p.K3860R Missense 44/59 - 1
7-151856043-C-A c.11575G>T p.E3859* Nonsense 44/59 - 1
7-151856043-C-T c.11575G>A p.E3859K Missense 44/59 - 1
7-151856044-A-C c.11574T>G p.G3858= Synonymous 44/59 - 1
7-151856044-A-G c.11574T>C p.G3858= Synonymous 44/59 - 1
7-151856044-A-T c.11574T>A p.G3858= Synonymous 44/59 - 2
7-151856045-C-A c.11573G>T p.G3858V Missense 44/59 - 1
7-151856045-C-G c.11573G>C p.G3858A Missense 44/59 - 1
7-151856046-C-A c.11572G>T p.G3858C Missense 44/59 - 1
7-151856046-C-T c.11572G>A p.G3858S Missense 44/59 - 1
7-151856047-C-A c.11571G>T p.T3857= Synonymous 44/59 - 1
7-151856047-C-G c.11571G>C p.T3857= Synonymous 44/59 - 1
7-151856047-C-T c.11571G>A p.T3857= Synonymous 44/59 - 1
7-151856048-G-A c.11570C>T p.T3857M Missense 44/59 - 10
7-151856051-C-T c.11567G>A p.R3856K Missense 44/59 - 5
7-151856052-T-TC c.11565dup p.R3856Efs*4 Frameshift 44/59 - 1
7-151856053-C-G c.11565G>C p.Q3855H Missense 44/59 - 1
7-151856054-T-C c.11564A>G p.Q3855R Missense 44/59 - 1
7-151856055-G-A c.11563C>T p.Q3855* Nonsense 44/59 - 2
7-151856056-A-C c.11562T>G p.T3854= Synonymous 44/59 - 2
7-151856056-A-G c.11562T>C p.T3854= Synonymous 44/59 - 2
7-151856056-A-T c.11562T>A p.T3854= Synonymous 44/59 - 2
7-151856060-C-A c.11558G>T p.R3853L Missense 44/59 - 1
7-151856060-C-CT c.11557_11558insA p.R3853Qfs*7 Frameshift 44/59 - 1
7-151856060-C-T c.11558G>A p.R3853Q Missense 44/59 - 1
7-151856061-G-A c.11557C>T p.R3853W Missense 44/59 - 2
7-151856064-T-A c.11554A>T p.K3852* Nonsense 44/59 - 1
7-151856064-T-C c.11554A>G p.K3852E Missense 44/59 - 1
7-151856069-C-T c.11549G>A p.R3850Q Missense 44/59 - 3
7-151856070-G-A c.11548C>T p.R3850* Nonsense 44/59 - 5
7-151856072-T-A c.11546A>T p.Q3849L Missense 44/59 - 1
7-151856073-G-A c.11545C>T p.Q3849* Nonsense 44/59 - 3
7-151856077-C-A c.11541G>T p.K3847N Missense 44/59 - 3
7-151856077-C-G c.11541G>C p.K3847N Missense 44/59 - 4
7-151856077-C-T c.11541G>A p.K3847= Synonymous 44/59 - 1
7-151856079-T-A c.11539A>T p.K3847* Nonsense 44/59 - 1
7-151856080-G-C c.11538C>G p.T3846= Synonymous 44/59 - 1
7-151856081-G-T c.11537C>A p.T3846N Missense 44/59 - 3
7-151856083-T-A c.11535A>T p.E3845D Missense 44/59 - 1
7-151856083-T-G c.11535A>C p.E3845D Missense 44/59 - 1
7-151856081-GT-G c.11536del p.T3846Pfs*43 Frameshift 44/59 - 1
7-151856084-T-C c.11534A>G p.E3845G Missense 44/59 - 1
7-151856085-C-G c.11533G>C p.E3845Q Missense 44/59 - 3
7-151856085-C-T c.11533G>A p.E3845K Missense 44/59 - 7
7-151856088-T-C c.11530A>G p.S3844G Missense 44/59 - 1
7-151856090-C-G c.11528G>C p.G3843A Missense 44/59 - 5
7-151856091-C-T c.11527G>A p.G3843R Missense 44/59 - 1
7-151856096-T-C c.11522A>G p.D3841G Missense 44/59 - 1
7-151856097-C-G c.11521G>C p.D3841H Missense 44/59 - 2
7-151856097-C-T c.11521G>A p.D3841N Missense 44/59 - 2
7-151856101-T-A c.11517A>T p.K3839N Missense 44/59 - 1
7-151856101-T-G c.11517A>C p.K3839N Missense 44/59 - 1
7-151856103-T-G c.11515A>C p.K3839Q Missense 44/59 - 2
7-151856106-G-A c.11512C>T p.P3838S Missense 44/59 - 1
7-151856106-G-C c.11512C>G p.P3838A Missense 44/59 - 1
7-151856107-C-T c.11511G>A p.L3837= Synonymous 44/59 - 1
7-151856108-A-G c.11510T>C p.L3837S Missense 44/59 - 1
7-151856107-C-CA c.11510dup p.L3837Ffs*9 Frameshift 44/59 - 1
7-151856110-C-A c.11508G>T p.Q3836H Missense 44/59 - 1
7-151856110-C-G c.11508G>C p.Q3836H Missense 44/59 - 1
7-151856112-G-GGCT c.11505_11506insAGC p.N3835_Q3836insS InFrameInsertion 44/59 - 1
7-151856117-C-G c.11501G>C p.G3834A Missense 44/59 - 2
7-151856117-C-T c.11501G>A p.G3834D Missense 44/59 - 1
7-151856121-A-C c.11497T>G p.C3833G Missense 44/59 - 3
7-151856121-A-G c.11497T>C p.C3833R Missense 44/59 - 1
7-151856125-A-C c.11493T>G p.F3831L Missense 44/59 - 1
7-151856125-A-T c.11493T>A p.F3831L Missense 44/59 - 1
7-151856127-A-G c.11491T>C p.F3831L Missense 44/59 - 1
7-151856129-C-A c.11489G>T p.G3830V Missense 44/59 - 1
7-151856133-C-A c.11485G>T p.G3829C Missense 44/59 - 1
7-151856133-C-T c.11485G>A p.G3829S Missense 44/59 - 2
7-151856137-C-A c.11481G>T p.M3827I Missense 44/59 - 2
7-151856137-C-G c.11481G>C p.M3827I Missense 44/59 - 2
7-151856137-C-T c.11481G>A p.M3827I Missense 44/59 - 2
7-151856142-G-A c.11476C>T p.Q3826* Nonsense 44/59 - 1
7-151856144-G-A c.11474C>T p.A3825V Missense 44/59 - 1
7-151856148-C-G c.11470G>C p.G3824R Missense 44/59 - 2
7-151856148-C-T c.11470G>A p.G3824R Missense 44/59 - 1
7-151856144-G-GC c.11473dup p.A3825Gfs*21 Frameshift 44/59 - 2
7-151856149-CCA-C c.11468_11469del p.L3823Wfs*22 Frameshift 44/59 - 2
7-151856151-A-C c.11467T>G p.L3823V Missense 44/59 - 1
7-151858647-GA-G c.11460+554del - IntronicDeletion - 43/58 1
7-151859183-T-G c.11460+19A>C - IntronicSNV - 43/58 1
7-151859189-G-T c.11460+13C>A - IntronicSNV - 43/58 1
7-151859200-TA-T c.11460+2del - IntronicDeletion - 43/58 1
7-151859201-C-A c.11460+1G>T - IntronicSNV - 43/58 2
7-151859207-C-A c.11455G>T p.G3819* Nonsense 43/59 - 3
7-151859208-T-C c.11454A>G p.E3818= Synonymous 43/59 - 2
7-151859210-C-T c.11452G>A p.E3818K Missense 43/59 - 3
7-151859211-CAGCTGGG-C c.11445_11451del p.N3815Kfs*72 Frameshift 43/59 - 4
7-151859214-T-G c.11448A>C p.P3816= Synonymous 43/59 - 1
7-151859217-G-A c.11445C>T p.N3815= Synonymous 43/59 - 1
7-151859219-T-C c.11443A>G p.N3815D Missense 43/59 - 1
7-151859221-T-C c.11441A>G p.Q3814R Missense 43/59 - 1
7-151859222-G-A c.11440C>T p.Q3814* Nonsense 43/59 - 2
7-151859222-G-C c.11440C>G p.Q3814E Missense 43/59 - 2
7-151859226-C-A c.11436G>T p.E3812D Missense 43/59 - 5
7-151859226-C-G c.11436G>C p.E3812D Missense 43/59 - 4
7-151859226-C-T c.11436G>A p.E3812= Synonymous 43/59 - 1
7-151859230-A-T c.11432T>A p.V3811D Missense 43/59 - 1
7-151859231-C-A c.11431G>T p.V3811F Missense 43/59 - 1
7-151859231-C-G c.11431G>C p.V3811L Missense 43/59 - 1
7-151859233-A-G c.11429T>C p.L3810P Missense 43/59 - 1
7-151859234-G-C c.11428C>G p.L3810V Missense 43/59 - 1
7-151859236-T-G c.11426A>C p.K3809T Missense 43/59 - 2
7-151859239-T-G c.11423A>C p.N3808T Missense 43/59 - 2
7-151859235-TTTA-T c.11424_11426del p.N3808del InFrameDeletion 43/59 - 1
7-151859240-T-C c.11422A>G p.N3808D Missense 43/59 - 1
7-151859243-C-CA c.11418_11419insT p.D3807* Nonsense 43/59 - 1
7-151859243-C-G c.11419G>C p.D3807H Missense 43/59 - 1
7-151859243-C-T c.11419G>A p.D3807N Missense 43/59 - 1
7-151859244-C-A c.11418G>T p.K3806N Missense 43/59 - 2
7-151859244-C-G c.11418G>C p.K3806N Missense 43/59 - 2
7-151859246-T-C c.11416A>G p.K3806E Missense 43/59 - 1
7-151859249-T-C c.11413A>G p.T3805A Missense 43/59 - 1
7-151859249-TAC-T c.11411_11412del p.C3804Yfs*4 Frameshift 43/59 - 1
7-151859253-G-A c.11409C>T p.D3803= Synonymous 43/59 - 2
7-151859254-T-C c.11408A>G p.D3803G Missense 43/59 - 1
7-151859258-C-G c.11404G>C p.D3802H Missense 43/59 - 4
7-151859258-C-T c.11404G>A p.D3802N Missense 43/59 - 1
7-151859261-C-A c.11401G>T p.E3801* Nonsense 43/59 - 2
7-151859262-TG-AA c.11399_11400delinsTT p.S3800F Missense 43/59 - 1
7-151859266-C-A c.11396G>T p.C3799F Missense 43/59 - 1
7-151859266-CA-GT c.11395_11396delinsAC p.C3799T Missense 43/59 - 1
7-151859274-G-T c.11388C>A p.G3796= Synonymous 43/59 - 1
7-151859276-C-T c.11386G>A p.G3796S Missense 43/59 - 1
7-151859277-C-A c.11385G>T p.E3795D Missense 43/59 - 2
7-151859279-C-A c.11383G>T p.E3795* Nonsense 43/59 - 2
7-151859281-G-A c.11381C>T p.P3794L Missense 43/59 - 1
7-151859281-G-C c.11381C>G p.P3794R Missense 43/59 - 2
7-151859282-G-A c.11380C>T p.P3794S Missense 43/59 - 1
7-151859282-GT-G c.11379del p.K3793Nfs*18 Frameshift 43/59 - 1
7-151859288-G-A c.11374C>T p.Q3792* Nonsense 43/59 - 2
7-151859288-G-T c.11374C>A p.Q3792K Missense 43/59 - 14
7-151859290-T-C c.11372A>G p.N3791S Missense 43/59 - 2
7-151859299-G-A c.11363C>T p.S3788F Missense 43/59 - 6
7-151859299-G-T c.11363C>A p.S3788Y Missense 43/59 - 2
7-151859301-AAGATGACTTTT-A c.11351_11361del p.K3784Ifs*8 Frameshift 43/59 - 1
7-151859302-G-A c.11360C>T p.S3787F Missense 43/59 - 1
7-151859306-A-T c.11356T>A p.S3786T Missense 43/59 - 4
7-151859310-T-TTG c.11351_11352insCA p.K3784Nfs*8 Frameshift 43/59 - 1
7-151859312-T-TA c.11349dup p.K3784* Nonsense 43/59 - 2
7-151859333-G-A c.11329C>T p.L3777= Synonymous 43/59 - 1
7-151859338-T-C c.11324A>G p.E3775G Missense 43/59 - 1
7-151859338-T-G c.11324A>C p.E3775A Missense 43/59 - 1
7-151859339-C-A c.11323G>T p.E3775* Nonsense 43/59 - 3
7-151859339-C-G c.11323G>C p.E3775Q Missense 43/59 - 1
7-151859344-C-A c.11318G>T p.G3773V Missense 43/59 - 1
7-151859345-C-A c.11317G>T p.G3773W Missense 43/59 - 3
7-151859347-G-C c.11315C>G p.S3772* Nonsense 43/59 - 1
7-151859347-G-T c.11315C>A p.S3772* Nonsense 43/59 - 1
7-151859348-A-T c.11314T>A p.S3772T Missense 43/59 - 3
7-151859349-G-C c.11313C>G p.D3771E Missense 43/59 - 1
7-151859354-C-T c.11308G>A p.G3770R Missense 43/59 - 2
7-151859358-G-A c.11304C>T p.A3768= Synonymous 43/59 - 1
7-151859358-G-C c.11304C>G p.A3768= Synonymous 43/59 - 1
7-151859358-G-T c.11304C>A p.A3768= Synonymous 43/59 - 1
7-151859359-G-A c.11303C>T p.A3768V Missense 43/59 - 1
7-151859360-C-T c.11302G>A p.A3768T Missense 43/59 - 1
7-151859362-G-A c.11300C>T p.A3767V Missense 43/59 - 3
7-151859366-G-A c.11296C>T p.P3766S Missense 43/59 - 1
7-151859367-G-A c.11295C>T p.A3765= Synonymous 43/59 - 1
7-151859371-C-T c.11291G>A p.G3764E Missense 43/59 - 2
7-151859368-GC-G c.11293del p.A3765Pfs*13 Frameshift 43/59 - 1
7-151859372-C-T c.11290G>A p.G3764R Missense 43/59 - 1
7-151859371-CCAG-C c.11288_11290del p.A3763del InFrameDeletion 43/59 - 1
7-151859377-G-A c.11285C>T p.S3762F Missense 43/59 - 1
7-151859381-G-A c.11281C>T p.H3761Y Missense 43/59 - 1
7-151859381-G-T c.11281C>A p.H3761N Missense 43/59 - 1
7-151859383-G-A c.11279C>T p.P3760L Missense 43/59 - 1
7-151859386-G-A c.11276C>T p.P3759L Missense 43/59 - 1
7-151859386-G-T c.11276C>A p.P3759H Missense 43/59 - 2
7-151859387-G-A c.11275C>T p.P3759S Missense 43/59 - 1
7-151859387-G-C c.11275C>G p.P3759A Missense 43/59 - 1
7-151859388-A-G c.11274T>C p.S3758= Synonymous 43/59 - 2
7-151859390-T-C c.11272A>G p.S3758G Missense 43/59 - 1
7-151859393-G-A c.11269C>T p.Q3757* Nonsense 43/59 - 1
7-151859391-CTG-C c.11269_11270del p.Q3757Efs*18 Frameshift 43/59 - 2
7-151859394-GT-G c.11268del p.Q3757Rfs*21 Frameshift 43/59 - 1
7-151859394-T-A c.11268A>T p.A3756= Synonymous 43/59 - 2
7-151859394-T-C c.11268A>G p.A3756= Synonymous 43/59 - 1
7-151859394-T-G c.11268A>C p.A3756= Synonymous 43/59 - 1
7-151859395-G-A c.11267C>T p.A3756V Missense 43/59 - 1
7-151859395-G-T c.11267C>A p.A3756E Missense 43/59 - 2
7-151859395-TG-T c.11267del p.A3756Dfs*22 Frameshift 43/59 - 1
7-151859396-C-A c.11266G>T p.A3756S Missense 43/59 - 1
7-151859396-GC-G c.11266del p.A3756Hfs*22 Frameshift 43/59 - 4
7-151859398-G-A c.11264C>T p.S3755L Missense 43/59 - 2
7-151859400-G-A c.11262C>T p.S3754= Synonymous 43/59 - 1
7-151859400-G-T c.11262C>A p.S3754= Synonymous 43/59 - 1
7-151859401-G-A c.11261C>T p.S3754F Missense 43/59 - 1
7-151859403-G-A c.11259C>T p.V3753= Synonymous 43/59 - 2
7-151859403-G-C c.11259C>G p.V3753= Synonymous 43/59 - 1
7-151859403-G-T c.11259C>A p.V3753= Synonymous 43/59 - 1
7-151859405-C-A c.11257G>T p.V3753F Missense 43/59 - 1
7-151859407-G-A c.11255C>T p.P3752L Missense 43/59 - 1
7-151859410-C-A c.11252G>T p.C3751F Missense 43/59 - 1
7-151859414-C-G c.11248G>C p.A3750P Missense 43/59 - 1
7-151859417-C-A c.11245G>T p.V3749L Missense 43/59 - 1
7-151859417-C-G c.11245G>C p.V3749L Missense 43/59 - 1
7-151859419-G-A c.11243C>T p.A3748V Missense 43/59 - 1
7-151859420-C-T c.11242G>A p.A3748T Missense 43/59 - 3
7-151859421-G-A c.11241C>T p.N3747= Synonymous 43/59 - 3
7-151859421-G-C c.11241C>G p.N3747K Missense 43/59 - 1
7-151859422-T-A c.11240A>T p.N3747I Missense 43/59 - 2
7-151859422-T-C c.11240A>G p.N3747S Missense 43/59 - 1
7-151859423-T-A c.11239A>T p.N3747Y Missense 43/59 - 1
7-151859425-C-A c.11237G>T p.G3746V Missense 43/59 - 1
7-151859426-C-G c.11236G>C p.G3746R Missense 43/59 - 1
7-151859426-C-T c.11236G>A p.G3746R Missense 43/59 - 1
7-151859429-C-G c.11233G>C p.E3745Q Missense 43/59 - 2
7-151859429-C-T c.11233G>A p.E3745K Missense 43/59 - 1
7-151859426-CTTCTACCTTACTACCA-C c.11220_11235del p.N3740Kfs*5 Frameshift 43/59 - 1
7-151859432-C-A c.11230G>T p.V3744L Missense 43/59 - 1
7-151859432-C-G c.11230G>C p.V3744L Missense 43/59 - 1
7-151859432-C-T c.11230G>A p.V3744I Missense 43/59 - 1
7-151859437-C-A c.11225G>T p.S3742I Missense 43/59 - 1
7-151859439-A-ATGC c.11222_11223insGCA p.G3741_S3742insH InFrameInsertion 43/59 - 1
7-151859440-C-T c.11222G>A p.G3741D Missense 43/59 - 1
7-151859441-C-G c.11221G>C p.G3741R Missense 43/59 - 1
7-151859443-T-G c.11219A>C p.N3740T Missense 43/59 - 1
7-151859445-C-G c.11217G>C p.Q3739H Missense 43/59 - 1
7-151859445-C-T c.11217G>A p.Q3739= Synonymous 43/59 - 1
7-151859447-G-T c.11215C>A p.Q3739K Missense 43/59 - 1
7-151859453-C-A c.11209G>T p.E3737* Nonsense 43/59 - 3
7-151859453-C-G c.11209G>C p.E3737Q Missense 43/59 - 4
7-151859455-A-C c.11207T>G p.L3736W Missense 43/59 - 1
7-151859455-A-G c.11207T>C p.L3736S Missense 43/59 - 1
7-151859456-A-G c.11206T>C p.L3736= Synonymous 43/59 - 1
7-151859458-T-G c.11204A>C p.K3735T Missense 43/59 - 1
7-151859456-AT-A c.11205del p.K3735Nfs*10 Frameshift 43/59 - 5
7-151859459-T-TA c.11202dup p.K3735* Nonsense 43/59 - 2
7-151859462-G-A c.11200C>T p.P3734S Missense 43/59 - 1
7-151859464-T-A c.11198A>T p.E3733V Missense 43/59 - 1
7-151859467-T-A c.11195A>T p.E3732V Missense 43/59 - 1
7-151859473-C-T c.11189G>A p.G3730D Missense 43/59 - 1
7-151859474-C-T c.11188G>A p.G3730S Missense 43/59 - 1
7-151859476-G-A c.11186C>T p.P3729L Missense 43/59 - 2
7-151859478-G-A c.11184C>T p.C3728= Synonymous 43/59 - 1
7-151859481-G-A c.11181C>T p.S3727= Synonymous 43/59 - 1
7-151859481-G-C c.11181C>G p.S3727= Synonymous 43/59 - 1
7-151859481-G-T c.11181C>A p.S3727= Synonymous 43/59 - 1
7-151859482-G-A c.11180C>T p.S3727F Missense 43/59 - 1
7-151859482-G-C c.11180C>G p.S3727C Missense 43/59 - 1
7-151859484-C-T c.11178G>A p.E3726= Synonymous 43/59 - 1
7-151859486-C-A c.11176G>T p.E3726* Nonsense 43/59 - 2
7-151859486-C-G c.11176G>C p.E3726Q Missense 43/59 - 1
7-151859486-C-CT c.11175dup p.E3726Rfs*10 Frameshift 43/59 - 2
7-151859486-C-CTT c.11175_11176insAA p.E3726Kfs*20 Frameshift 43/59 - 1
7-151859489-T-G c.11173A>C p.T3725P Missense 43/59 - 1
7-151859489-T-TTC c.11172_11173insGA p.T3725Efs*21 Frameshift 43/59 - 2
7-151859492-C-A c.11170G>T p.E3724* Nonsense 43/59 - 1
7-151859492-C-T c.11170G>A p.E3724K Missense 43/59 - 10
7-151859494-G-A c.11168C>T p.A3723V Missense 43/59 - 1
7-151859495-C-G c.11167G>C p.A3723P Missense 43/59 - 3
7-151859495-C-T c.11167G>A p.A3723T Missense 43/59 - 1
7-151859497-T-A c.11165A>T p.K3722M Missense 43/59 - 1
7-151859499-T-A c.11163A>T p.E3721D Missense 43/59 - 1
7-151859496-CT-C c.11165del p.K3722Rfs*23 Frameshift 43/59 - 2
7-151859501-C-A c.11161G>T p.E3721* Nonsense 43/59 - 2
7-151859501-C-T c.11161G>A p.E3721K Missense 43/59 - 1
7-151859502-CAG-AAA c.11158_11160delinsTTT p.L3720F Missense 43/59 - 1
7-151859504-G-T c.11158C>A p.L3720M Missense 43/59 - 1
7-151859506-T-A c.11156A>T p.K3719I Missense 43/59 - 1
7-151859509-A-C c.11153T>G p.I3718R Missense 43/59 - 1
7-151859512-T-C c.11150A>G p.E3717G Missense 43/59 - 1
7-151859513-C-A c.11149G>T p.E3717* Nonsense 43/59 - 1
7-151859513-C-G c.11149G>C p.E3717Q Missense 43/59 - 2
7-151859513-C-T c.11149G>A p.E3717K Missense 43/59 - 1
7-151859516-C-A c.11146G>T p.E3716* Nonsense 43/59 - 1
7-151859516-C-G c.11146G>C p.E3716Q Missense 43/59 - 1
7-151859520-T-A c.11142A>T p.K3714N Missense 43/59 - 1
7-151859521-T-C c.11141A>G p.K3714R Missense 43/59 - 2
7-151859521-T-G c.11141A>C p.K3714T Missense 43/59 - 2
7-151859518-GT-G c.11143del p.T3715Qfs*4 Frameshift 43/59 - 3
7-151859522-T-C c.11140A>G p.K3714E Missense 43/59 - 3
7-151859523-G-A c.11139C>T p.A3713= Synonymous 43/59 - 1
7-151859523-G-C c.11139C>G p.A3713= Synonymous 43/59 - 1
7-151859523-G-T c.11139C>A p.A3713= Synonymous 43/59 - 1
7-151859525-C-A c.11137G>T p.A3713S Missense 43/59 - 1
7-151859528-G-A c.11134C>T p.P3712S Missense 43/59 - 2
7-151859529-GG-CA c.11132_11133delinsTG p.T3711M Missense 43/59 - 1
7-151859530-G-A c.11132C>T p.T3711I Missense 43/59 - 2
7-151859531-T-G c.11131A>C p.T3711P Missense 43/59 - 1
7-151859532-T-G c.11130A>C p.E3710D Missense 43/59 - 2
7-151859534-C-A c.11128G>T p.E3710* Nonsense 43/59 - 1
7-151859534-C-T c.11128G>A p.E3710K Missense 43/59 - 3
7-151859536-A-T c.11126T>A p.M3709K Missense 43/59 - 1
7-151859537-T-C c.11125A>G p.M3709V Missense 43/59 - 1
7-151859537-T-G c.11125A>C p.M3709L Missense 43/59 - 1
7-151859539-GA-AT c.11122_11123delinsAT p.S3708I Missense 43/59 - 1
7-151859539-GA-CG c.11122_11123delinsCG p.S3708R Missense 43/59 - 1
7-151859539-GA-TT c.11122_11123delinsAA p.S3708N Missense 43/59 - 1
7-151859539-G-T c.11123C>A p.S3708Y Missense 43/59 - 1
7-151859540-A-T c.11122T>A p.S3708T Missense 43/59 - 3
7-151859541-G-A c.11121C>T p.L3707= Synonymous 43/59 - 1
7-151859541-G-C c.11121C>G p.L3707= Synonymous 43/59 - 1
7-151859541-G-T c.11121C>A p.L3707= Synonymous 43/59 - 1
7-151859543-G-A c.11119C>T p.L3707F Missense 43/59 - 1
7-151859545-T-C c.11117A>G p.K3706R Missense 43/59 - 3
7-151859549-C-G c.11113G>C p.D3705H Missense 43/59 - 2
7-151859552-C-A c.11110G>T p.V3704L Missense 43/59 - 2
7-151859552-C-G c.11110G>C p.V3704L Missense 43/59 - 2
7-151859554-T-A c.11108A>T p.E3703V Missense 43/59 - 2
7-151859555-C-G c.11107G>C p.E3703Q Missense 43/59 - 1
7-151859561-T-A c.11101A>T p.N3701Y Missense 43/59 - 1
7-151859565-CA-C c.11097del p.Y3699* Frameshift 43/59 - 1
7-151859566-T-C c.11096A>G p.Y3699C Missense 43/59 - 2
7-151859567-TA-T c.11095del p.Y3699Mfs*6 Frameshift 43/59 - 2
7-151859568-AC-A c.11094del p.Y3699Mfs*6 Frameshift 43/59 - 1
7-151859568-C-A c.11094G>T p.T3698= Synonymous 43/59 - 4
7-151859568-C-G c.11094G>C p.T3698= Synonymous 43/59 - 3
7-151859568-C-T c.11094G>A p.T3698= Synonymous 43/59 - 5
7-151859569-G-A c.11093C>T p.T3698M Missense 43/59 - 5
7-151859570-T-A c.11092A>T p.T3698S Missense 43/59 - 1
7-151859570-T-C c.11092A>G p.T3698A Missense 43/59 - 2
7-151859570-T-G c.11092A>C p.T3698P Missense 43/59 - 1
7-151859571-TC-T c.11091del p.T3698Rfs*7 Frameshift 43/59 - 1
7-151859574-T-A c.11088A>T p.Q3696H Missense 43/59 - 2
7-151859576-G-A c.11086C>T p.Q3696* Nonsense 43/59 - 2
7-151859576-G-C c.11086C>G p.Q3696E Missense 43/59 - 1
7-151859576-TG-T c.11086del p.Q3696Nfs*9 Frameshift 43/59 - 1
7-151859578-T-A c.11084A>T p.N3695I Missense 43/59 - 1
7-151859578-T-C c.11084A>G p.N3695S Missense 43/59 - 1
7-151859582-G-A c.11080C>T p.P3694S Missense 43/59 - 5
7-151859588-C-T c.11074G>A p.A3692T Missense 43/59 - 1
7-151859589-T-C c.11073A>G p.Q3691= Synonymous 43/59 - 1
7-151859591-G-A c.11071C>T p.Q3691* Nonsense 43/59 - 1
7-151859593-G-C c.11069C>G p.S3690* Nonsense 43/59 - 4
7-151859593-G-T c.11069C>A p.S3690* Nonsense 43/59 - 2
7-151859595-G-A c.11067C>T p.F3689= Synonymous 43/59 - 1
7-151859595-G-C c.11067C>G p.F3689L Missense 43/59 - 2
7-151859595-G-T c.11067C>A p.F3689L Missense 43/59 - 2
7-151859597-A-G c.11065T>C p.F3689L Missense 43/59 - 2
7-151859598-A-G c.11064T>C p.D3688= Synonymous 43/59 - 1
7-151859599-T-C c.11063A>G p.D3688G Missense 43/59 - 1
7-151859602-C-A c.11060G>T p.S3687I Missense 43/59 - 3
7-151859602-C-T c.11060G>A p.S3687N Missense 43/59 - 1
7-151859605-T-C c.11057A>G p.N3686S Missense 43/59 - 1
7-151859606-T-A c.11056A>T p.N3686Y Missense 43/59 - 1
7-151859606-T-C c.11056A>G p.N3686D Missense 43/59 - 2
7-151859606-T-G c.11056A>C p.N3686H Missense 43/59 - 1
7-151859609-G-A c.11053C>T p.P3685S Missense 43/59 - 1
7-151859613-T-G c.11049A>C p.K3683N Missense 43/59 - 1
7-151859615-T-A c.11047A>T p.K3683* Nonsense 43/59 - 2
7-151859616-G-T c.11046C>A p.N3682K Missense 43/59 - 1
7-151859617-T-C c.11045A>G p.N3682S Missense 43/59 - 3
7-151859618-T-C c.11044A>G p.N3682D Missense 43/59 - 1
7-151859619-C-G c.11043G>C p.E3681D Missense 43/59 - 3
7-151859620-T-C c.11042A>G p.E3681G Missense 43/59 - 1
7-151859621-C-G c.11041G>C p.E3681Q Missense 43/59 - 2
7-151859623-A-G c.11039T>C p.L3680S Missense 43/59 - 1
7-151859625-T-A c.11037A>T p.E3679D Missense 43/59 - 1
7-151859625-T-G c.11037A>C p.E3679D Missense 43/59 - 1
7-151859624-AT-A c.11037del p.E3679Dfs*2 Frameshift 43/59 - 3
7-151859627-C-A c.11035G>T p.E3679* Nonsense 43/59 - 1
7-151859627-C-CA c.11034_11035insT p.E3679* Nonsense 43/59 - 2
7-151859627-C-T c.11035G>A p.E3679K Missense 43/59 - 3
7-151859633-A-C c.11029T>G p.C3677G Missense 43/59 - 1
7-151859633-A-G c.11029T>C p.C3677R Missense 43/59 - 2
7-151859636-G-C c.11026C>G p.L3676V Missense 43/59 - 5
7-151859637-C-A c.11025G>T p.Q3675H Missense 43/59 - 1
7-151859637-C-G c.11025G>C p.Q3675H Missense 43/59 - 1
7-151859638-CT-C c.11024del p.Q3675Rfs*6 Frameshift 43/59 - 1
7-151859639-G-A c.11023C>T p.Q3675* Nonsense 43/59 - 1
7-151859642-C-A c.11020G>T p.G3674C Missense 43/59 - 4
7-151859642-C-T c.11020G>A p.G3674S Missense 43/59 - 5
7-151859644-G-C c.11018C>G p.A3673G Missense 43/59 - 1
7-151859645-C-G c.11017G>C p.A3673P Missense 43/59 - 1
7-151859645-C-T c.11017G>A p.A3673T Missense 43/59 - 1
7-151859647-G-A c.11015C>T p.A3672V Missense 43/59 - 1
7-151859648-C-A c.11014G>T p.A3672S Missense 43/59 - 1
7-151859653-T-C c.11009A>G p.N3670S Missense 43/59 - 3
7-151859653-T-G c.11009A>C p.N3670T Missense 43/59 - 1
7-151859654-T-C c.11008A>G p.N3670D Missense 43/59 - 2
7-151859656-G-A c.11006C>T p.P3669L Missense 43/59 - 1
7-151859666-G-A c.10996C>T p.P3666S Missense 43/59 - 1
7-151859668-C-G c.10994G>C p.G3665A Missense 43/59 - 3
7-151859668-C-T c.10994G>A p.G3665D Missense 43/59 - 1
7-151859669-C-T c.10993G>A p.G3665S Missense 43/59 - 2
7-151859670-G-A c.10992C>T p.V3664= Synonymous 43/59 - 5
7-151859670-G-C c.10992C>G p.V3664= Synonymous 43/59 - 3
7-151859670-G-T c.10992C>A p.V3664= Synonymous 43/59 - 3
7-151859672-C-T c.10990G>A p.V3664I Missense 43/59 - 1
7-151859676-T-A c.10986A>T p.E3662D Missense 43/59 - 1
7-151859682-C-T c.10980G>A p.S3660= Synonymous 43/59 - 2
7-151859683-G-A c.10979C>T p.S3660L Missense 43/59 - 33
7-151859683-G-T c.10979C>A p.S3660* Nonsense 43/59 - 1
7-151859690-G-A c.10972C>T p.Q3658* Nonsense 43/59 - 1
7-151859692-T-C c.10970A>G p.D3657G Missense 43/59 - 1
7-151859693-C-A c.10969G>T p.D3657Y Missense 43/59 - 1
7-151859693-C-CA c.10968_10969insT p.D3657* Nonsense 43/59 - 1
7-151859693-C-T c.10969G>A p.D3657N Missense 43/59 - 2
7-151859694-G-A c.10968C>T p.A3656= Synonymous 43/59 - 2
7-151859694-G-C c.10968C>G p.A3656= Synonymous 43/59 - 2
7-151859694-G-T c.10968C>A p.A3656= Synonymous 43/59 - 1
7-151859695-G-A c.10967C>T p.A3656V Missense 43/59 - 4
7-151859695-GC-CA c.10966_10967delinsTG p.A3656C Missense 43/59 - 1
7-151859696-C-T c.10966G>A p.A3656T Missense 43/59 - 1
7-151859702-G-A c.10960C>T p.Q3654* Nonsense 43/59 - 4
7-151859702-G-C c.10960C>G p.Q3654E Missense 43/59 - 2
7-151859704-G-A c.10958C>T p.P3653L Missense 43/59 - 1
7-151859705-G-A c.10957C>T p.P3653S Missense 43/59 - 4
7-151859707-A-T c.10955T>A p.L3652H Missense 43/59 - 1
7-151859708-AGCTCACTGGG-A c.10945_10954del p.P3649Ffs*29 Frameshift 43/59 - 1
7-151859711-C-T c.10951G>A p.E3651K Missense 43/59 - 1
7-151859713-CT-AA c.10948_10949delinsTT p.S3650F Missense 43/59 - 1
7-151859724-C-A c.10938G>T p.V3646= Synonymous 43/59 - 3
7-151859724-C-G c.10938G>C p.V3646= Synonymous 43/59 - 2
7-151859724-C-T c.10938G>A p.V3646= Synonymous 43/59 - 1
7-151859728-G-A c.10934C>T p.A3645V Missense 43/59 - 1
7-151859729-GC-G c.10933del p.A3645Qfs*2 Frameshift 43/59 - 1
7-151859733-A-G c.10929T>C p.T3643= Synonymous 43/59 - 1
7-151859734-G-A c.10928C>T p.T3643I Missense 43/59 - 2
7-151859735-T-C c.10927A>G p.T3643A Missense 43/59 - 2
7-151859737-G-C c.10925C>G p.S3642C Missense 43/59 - 2
7-151859741-T-G c.10921A>C p.T3641P Missense 43/59 - 1
7-151859746-T-A c.10916A>T p.E3639V Missense 43/59 - 2
7-151859747-C-A c.10915G>T p.E3639* Nonsense 43/59 - 1
7-151859749-G-A c.10913C>T p.S3638L Missense 43/59 - 1
7-151859749-G-C c.10913C>G p.S3638* Nonsense 43/59 - 1
7-151859751-G-A c.10911C>T p.I3637= Synonymous 43/59 - 5
7-151859751-G-T c.10911C>A p.I3637= Synonymous 43/59 - 2
7-151859755-C-T c.10907G>A p.G3636D Missense 43/59 - 1
7-151859762-T-G c.10900A>C p.T3634P Missense 43/59 - 3
7-151859763-C-A c.10899G>T p.P3633= Synonymous 43/59 - 2
7-151859763-C-G c.10899G>C p.P3633= Synonymous 43/59 - 2
7-151859763-C-T c.10899G>A p.P3633= Synonymous 43/59 - 3
7-151859764-G-A c.10898C>T p.P3633L Missense 43/59 - 3
7-151859764-G-T c.10898C>A p.P3633Q Missense 43/59 - 2
7-151859765-G-A c.10897C>T p.P3633S Missense 43/59 - 1
7-151859768-G-A c.10894C>T p.P3632S Missense 43/59 - 2
7-151859768-G-T c.10894C>A p.P3632T Missense 43/59 - 1
7-151859771-C-T c.10891G>A p.A3631T Missense 43/59 - 1
7-151859773-G-A c.10889C>T p.T3630I Missense 43/59 - 4
7-151859776-A-G c.10886T>C p.I3629T Missense 43/59 - 1
7-151859777-T-C c.10885A>G p.I3629V Missense 43/59 - 3
7-151859780-C-T c.10882G>A p.D3628N Missense 43/59 - 5
7-151859782-G-C c.10880C>G p.S3627* Nonsense 43/59 - 3
7-151859782-G-T c.10880C>A p.S3627* Nonsense 43/59 - 1
7-151859787-G-A c.10875C>T p.P3625= Synonymous 43/59 - 2
7-151859787-G-C c.10875C>G p.P3625= Synonymous 43/59 - 1
7-151859787-G-T c.10875C>A p.P3625= Synonymous 43/59 - 1
7-151859788-G-A c.10874C>T p.P3625L Missense 43/59 - 1
7-151859785-T-TG c.10876dup p.H3626Pfs*26 Frameshift 43/59 - 1
7-151859791-G-A c.10871C>T p.T3624I Missense 43/59 - 1
7-151859792-T-G c.10870A>C p.T3624P Missense 43/59 - 3
7-151859794-G-C c.10868C>G p.S3623* Nonsense 43/59 - 1
7-151859794-G-T c.10868C>A p.S3623* Nonsense 43/59 - 1
7-151859795-A-T c.10867T>A p.S3623T Missense 43/59 - 1
7-151859796-T-C c.10866A>G p.P3622= Synonymous 43/59 - 1
7-151859799-A-C c.10863T>G p.A3621= Synonymous 43/59 - 1
7-151859801-C-T c.10861G>A p.A3621T Missense 43/59 - 2
7-151859803-T-C c.10859A>G p.K3620R Missense 43/59 - 1
7-151859806-G-T c.10856C>A p.T3619N Missense 43/59 - 1
7-151859809-G-A c.10853C>T p.S3618F Missense 43/59 - 1
7-151859810-A-T c.10852T>A p.S3618T Missense 43/59 - 4
7-151859813-C-A c.10849G>T p.E3617* Nonsense 43/59 - 1
7-151859815-G-A c.10847C>T p.A3616V Missense 43/59 - 1
7-151859816-C-T c.10846G>A p.A3616T Missense 43/59 - 2
7-151859818-T-A c.10844A>T p.D3615V Missense 43/59 - 1
7-151859818-T-C c.10844A>G p.D3615G Missense 43/59 - 1
7-151859819-C-T c.10843G>A p.D3615N Missense 43/59 - 1
7-151859821-T-C c.10841A>G p.D3614G Missense 43/59 - 1
7-151859825-C-T c.10837G>A p.D3613N Missense 43/59 - 2
7-151859827-C-T c.10835G>A p.R3612K Missense 43/59 - 1
7-151859827-TC-T c.10835del p.R3612Kfs*18 Frameshift 43/59 - 1
7-151859829-T-C c.10833A>G p.K3611= Synonymous 43/59 - 1
7-151859825-CTCTTT-C c.10832_10836del p.K3611Rfs*2 Frameshift 43/59 - 1
7-151859837-T-C c.10825A>G p.K3609E Missense 43/59 - 4
7-151859832-CTTCT-C c.10826_10829del p.K3609Rfs*20 Frameshift 43/59 - 1
7-151859839-C-A c.10823G>T p.R3608I Missense 43/59 - 1
7-151859839-C-T c.10823G>A p.R3608K Missense 43/59 - 1
7-151859841-T-A c.10821A>T p.T3607= Synonymous 43/59 - 1
7-151859842-G-T c.10820C>A p.T3607K Missense 43/59 - 1
7-151859845-C-T c.10817G>A p.R3606K Missense 43/59 - 1
7-151859848-T-A c.10814A>T p.K3605I Missense 43/59 - 4
7-151859846-TTTTC-T c.10812_10815del p.K3605Efs*24 Frameshift 43/59 - 4
7-151859849-T-TC c.10812dup p.K3605Efs*10 Frameshift 43/59 - 2
7-151859850-C-A c.10812G>T p.K3604N Missense 43/59 - 6
7-151859850-C-G c.10812G>C p.K3604N Missense 43/59 - 4
7-151859850-C-T c.10812G>A p.K3604= Synonymous 43/59 - 1
7-151859850-CT-C c.10811del p.K3604Rfs*26 Frameshift 43/59 - 1
7-151859855-T-C c.10807A>G p.K3603E Missense 43/59 - 2
7-151859849-TCTTTTTCC-T c.10805_10812del p.G3602Efs*10 Frameshift 43/59 - 1
7-151859858-C-G c.10804G>C p.G3602R Missense 43/59 - 1
7-151859858-C-T c.10804G>A p.G3602R Missense 43/59 - 1
7-151859859-T-C c.10803A>G p.K3601= Synonymous 43/59 - 1
7-151859861-T-A c.10801A>T p.K3601* Nonsense 43/59 - 2
7-151859868-T-A c.10794A>T p.P3598= Synonymous 43/59 - 1
7-151859868-T-C c.10794A>G p.P3598= Synonymous 43/59 - 1
7-151859868-T-G c.10794A>C p.P3598= Synonymous 43/59 - 1
7-151859868-TG-AT c.10793_10794delinsAT p.P3598H Missense 43/59 - 1
7-151859869-G-A c.10793C>T p.P3598L Missense 43/59 - 1
7-151859870-G-T c.10792C>A p.P3598T Missense 43/59 - 2
7-151859871-G-A c.10791C>T p.I3597= Synonymous 43/59 - 1
7-151859871-G-T c.10791C>A p.I3597= Synonymous 43/59 - 1
7-151859873-T-C c.10789A>G p.I3597V Missense 43/59 - 1
7-151859875-A-G c.10787T>C p.I3596T Missense 43/59 - 1
7-151859879-C-A c.10783G>T p.D3595Y Missense 43/59 - 1
7-151859879-C-G c.10783G>C p.D3595H Missense 43/59 - 1
7-151859879-C-T c.10783G>A p.D3595N Missense 43/59 - 3
7-151859885-A-G c.10777T>C p.Y3593H Missense 43/59 - 2
7-151859889-C-A c.10773G>T p.Q3591H Missense 43/59 - 4
7-151859889-C-G c.10773G>C p.Q3591H Missense 43/59 - 2
7-151859891-G-A c.10771C>T p.Q3591* Nonsense 43/59 - 8
7-151859893-A-G c.10769T>C p.I3590T Missense 43/59 - 1
7-151859894-T-G c.10768A>C p.I3590L Missense 43/59 - 3
7-151859895-G-T c.10767C>A p.L3589= Synonymous 43/59 - 1
7-151859896-A-G c.10766T>C p.L3589P Missense 43/59 - 1
7-151859897-G-A c.10765C>T p.L3589F Missense 43/59 - 1
7-151859898-C-A c.10764G>T p.S3588= Synonymous 43/59 - 1
7-151859898-C-G c.10764G>C p.S3588= Synonymous 43/59 - 1
7-151859898-C-T c.10764G>A p.S3588= Synonymous 43/59 - 1
7-151859899-G-A c.10763C>T p.S3588L Missense 43/59 - 20
7-151859903-G-A c.10759C>T p.Q3587* Nonsense 43/59 - 5
7-151859903-G-C c.10759C>G p.Q3587E Missense 43/59 - 1
7-151859905-G-A c.10757C>T p.T3586I Missense 43/59 - 1
7-151859908-G-C c.10754C>G p.S3585* Nonsense 43/59 - 3
7-151859908-G-T c.10754C>A p.S3585* Nonsense 43/59 - 3
7-151859911-C-A c.10751G>T p.G3584V Missense 43/59 - 1
7-151859912-C-G c.10750G>C p.G3584R Missense 43/59 - 7
7-151859912-C-T c.10750G>A p.G3584R Missense 43/59 - 9
7-151859914-G-A c.10748C>T p.P3583L Missense 43/59 - 3
7-151859917-T-G c.10745A>C p.Y3582S Missense 43/59 - 1
7-151859921-T-A c.10741A>T p.S3581C Missense 43/59 - 1
7-151859925-T-A c.10737A>T p.G3579= Synonymous 43/59 - 1
7-151859925-T-C c.10737A>G p.G3579= Synonymous 43/59 - 2
7-151859925-T-G c.10737A>C p.G3579= Synonymous 43/59 - 1
7-151859927-C-A c.10735G>T p.G3579* Nonsense 43/59 - 2
7-151859927-C-G c.10735G>C p.G3579R Missense 43/59 - 1
7-151859929-T-C c.10733A>G p.H3578R Missense 43/59 - 3
7-151859929-T-G c.10733A>C p.H3578P Missense 43/59 - 2
7-151859930-G-A c.10732C>T p.H3578Y Missense 43/59 - 1
7-151859931-G-A c.10731C>T p.T3577= Synonymous 43/59 - 2
7-151859931-G-C c.10731C>G p.T3577= Synonymous 43/59 - 1
7-151859931-G-T c.10731C>A p.T3577= Synonymous 43/59 - 1
7-151859932-G-GT c.10729dup p.T3577Nfs*19 Frameshift 43/59 - 1
7-151859935-A-G c.10727T>C p.I3576T Missense 43/59 - 1
7-151859936-T-C c.10726A>G p.I3576V Missense 43/59 - 2
7-151859938-G-A c.10724C>T p.T3575I Missense 43/59 - 1
7-151859938-G-C c.10724C>G p.T3575S Missense 43/59 - 2
7-151859939-T-A c.10723A>T p.T3575S Missense 43/59 - 3
7-151859939-T-C c.10723A>G p.T3575A Missense 43/59 - 6
7-151859940-A-C c.10722T>G p.S3574= Synonymous 43/59 - 1
7-151859940-A-G c.10722T>C p.S3574= Synonymous 43/59 - 2
7-151859940-A-T c.10722T>A p.S3574= Synonymous 43/59 - 1
7-151859941-G-C c.10721C>G p.S3574C Missense 43/59 - 1
7-151859941-G-T c.10721C>A p.S3574Y Missense 43/59 - 2
7-151859942-A-G c.10720T>C p.S3574P Missense 43/59 - 1
7-151859945-C-G c.10717G>C p.D3573H Missense 43/59 - 1
7-151859951-C-A c.10711G>T p.G3571C Missense 43/59 - 1
7-151859950-CCACATGGGAGACTG-C c.10698_10711del p.S3566Rfs*25 Frameshift 43/59 - 1
7-151859952-CA-C c.10710del p.C3570Wfs*7 Frameshift 43/59 - 1
7-151859956-G-T c.10706C>A p.P3569Q Missense 43/59 - 2
7-151859954-ATGGGAGAC-A c.10700_10707del p.S3567Mfs*26 Frameshift 43/59 - 1
7-151859958-G-C c.10704C>G p.L3568= Synonymous 43/59 - 2
7-151859960-G-C c.10702C>G p.L3568V Missense 43/59 - 1
7-151859961-A-C c.10701T>G p.S3567R Missense 43/59 - 1
7-151859961-A-T c.10701T>A p.S3567R Missense 43/59 - 1
7-151859963-T-G c.10699A>C p.S3567R Missense 43/59 - 1
7-151859965-C-A c.10697G>T p.S3566I Missense 43/59 - 2
7-151859968-T-G c.10694A>C p.N3565T Missense 43/59 - 1
7-151859972-C-A c.10690G>T p.A3564S Missense 43/59 - 1
7-151859972-C-G c.10690G>C p.A3564P Missense 43/59 - 1
7-151859979-A-C c.10683T>G p.P3561= Synonymous 43/59 - 1
7-151859980-G-A c.10682C>T p.P3561L Missense 43/59 - 1
7-151859980-G-T c.10682C>A p.P3561H Missense 43/59 - 1
7-151859981-G-A c.10681C>T p.P3561S Missense 43/59 - 2
7-151859986-G-A c.10676C>T p.A3559V Missense 43/59 - 1
7-151859987-C-T c.10675G>A p.A3559T Missense 43/59 - 1
7-151859990-G-A c.10672C>T p.P3558S Missense 43/59 - 1
7-151859995-G-A c.10667C>T p.A3556V Missense 43/59 - 1
7-151859998-G-C c.10664C>G p.P3555R Missense 43/59 - 1
7-151859999-G-A c.10663C>T p.P3555S Missense 43/59 - 1
7-151859999-G-T c.10663C>A p.P3555T Missense 43/59 - 4
7-151860007-G-A c.10655C>T p.S3552F Missense 43/59 - 1
7-151860007-G-C c.10655C>G p.S3552C Missense 43/59 - 1
7-151860013-C-T c.10649G>A p.R3550K Missense 43/59 - 1
7-151860015-C-A c.10647G>T p.V3549= Synonymous 43/59 - 5
7-151860015-C-G c.10647G>C p.V3549= Synonymous 43/59 - 4
7-151860015-C-T c.10647G>A p.V3549= Synonymous 43/59 - 4
7-151860017-C-A c.10645G>T p.V3549L Missense 43/59 - 1
7-151860018-TG-T c.10643del p.P3548Qfs*2 Frameshift 43/59 - 1
7-151860023-A-G c.10639T>C p.S3547P Missense 43/59 - 11
7-151860024-C-A c.10638G>T p.Q3546H Missense 43/59 - 1
7-151860024-C-T c.10638G>A p.Q3546= Synonymous 43/59 - 1
7-151860026-G-A c.10636C>T p.Q3546* Nonsense 43/59 - 2
7-151860026-G-T c.10636C>A p.Q3546K Missense 43/59 - 1
7-151860029-G-A c.10633C>T p.Q3545* Nonsense 43/59 - 5
7-151860030-G-A c.10632C>T p.F3544= Synonymous 43/59 - 4
7-151860030-G-C c.10632C>G p.F3544L Missense 43/59 - 1
7-151860030-G-T c.10632C>A p.F3544L Missense 43/59 - 1
7-151860032-A-G c.10630T>C p.F3544L Missense 43/59 - 3
7-151860034-C-T c.10628G>A p.S3543N Missense 43/59 - 1
7-151860040-C-A c.10622G>T p.G3541V Missense 43/59 - 5
7-151860043-G-A c.10619C>T p.S3540F Missense 43/59 - 4
7-151860044-A-G c.10618T>C p.S3540P Missense 43/59 - 2
7-151860056-G-A c.10606C>T p.H3536Y Missense 43/59 - 3
7-151860059-C-G c.10603G>C p.G3535R Missense 43/59 - 1
7-151860059-C-T c.10603G>A p.G3535R Missense 43/59 - 1
7-151860060-C-A c.10602G>T p.Q3534H Missense 43/59 - 1
7-151860060-C-G c.10602G>C p.Q3534H Missense 43/59 - 1
7-151860061-T-A c.10601A>T p.Q3534L Missense 43/59 - 1
7-151860062-G-A c.10600C>T p.Q3534* Nonsense 43/59 - 4
7-151860063-C-A c.10599G>T p.K3533N Missense 43/59 - 1
7-151860068-C-A c.10594G>T p.V3532L Missense 43/59 - 1
7-151860068-C-G c.10594G>C p.V3532L Missense 43/59 - 1
7-151860068-CAG-C c.10592_10593del p.S3531Cfs*34 Frameshift 43/59 - 2
7-151860070-G-A c.10592C>T p.S3531F Missense 43/59 - 1
7-151860073-G-C c.10589C>G p.S3530C Missense 43/59 - 1
7-151860073-G-GGA c.10588_10589insTC p.S3530Ffs*4 Frameshift 43/59 - 1
7-151860074-A-T c.10588T>A p.S3530T Missense 43/59 - 5
7-151860073-GA-G c.10588del p.S3530Lfs*3 Frameshift 43/59 - 2
7-151860080-T-A c.10582A>T p.N3528Y Missense 43/59 - 1
7-151860080-T-G c.10582A>C p.N3528H Missense 43/59 - 7
7-151860089-C-T c.10573G>A p.G3525R Missense 43/59 - 2
7-151860091-A-G c.10571T>C p.V3524A Missense 43/59 - 6
7-151860092-C-A c.10570G>T p.V3524F Missense 43/59 - 1
7-151860092-C-T c.10570G>A p.V3524I Missense 43/59 - 1
7-151860104-G-A c.10558C>T p.P3520S Missense 43/59 - 3
7-151860106-G-A c.10556C>T p.S3519L Missense 43/59 - 2
7-151860109-T-G c.10553A>C p.D3518A Missense 43/59 - 1
7-151860110-C-G c.10552G>C p.D3518H Missense 43/59 - 3
7-151860112-G-C c.10550C>G p.P3517R Missense 43/59 - 1
7-151860113-G-A c.10549C>T p.P3517S Missense 43/59 - 1
7-151860116-C-A c.10546G>T p.V3516F Missense 43/59 - 1
7-151860116-C-T c.10546G>A p.V3516I Missense 43/59 - 1
7-151860121-G-T c.10541C>A p.S3514* Nonsense 43/59 - 1
7-151860125-G-A c.10537C>T p.P3513S Missense 43/59 - 3
7-151860130-C-T c.10532G>A p.G3511D Missense 43/59 - 1
7-151860131-C-A c.10531G>T p.G3511C Missense 43/59 - 1
7-151860133-A-G c.10529T>C p.V3510A Missense 43/59 - 2
7-151860134-C-CTA c.10527_10528insTA p.V3510* Nonsense 43/59 - 1
7-151860133-AC-A c.10528del p.V3510* Frameshift 43/59 - 1
7-151860135-C-A c.10527G>T p.Q3509H Missense 43/59 - 1
7-151860135-C-T c.10527G>A p.Q3509= Synonymous 43/59 - 1
7-151860136-T-C c.10526A>G p.Q3509R Missense 43/59 - 1
7-151860138-C-T c.10524G>A p.R3508= Synonymous 43/59 - 2
7-151860140-T-A c.10522A>T p.R3508W Missense 43/59 - 2
7-151860142-C-T c.10520G>A p.R3507Q Missense 43/59 - 7
7-151860143-G-A c.10519C>T p.R3507* Nonsense 43/59 - 13
7-151860146-C-A c.10516G>T p.E3506* Nonsense 43/59 - 4
7-151860146-C-G c.10516G>C p.E3506Q Missense 43/59 - 2
7-151860149-T-C c.10513A>G p.N3505D Missense 43/59 - 3
7-151860153-C-A c.10509G>T p.Q3503H Missense 43/59 - 1
7-151860153-C-G c.10509G>C p.Q3503H Missense 43/59 - 1
7-151860157-A-G c.10505T>C p.M3502T Missense 43/59 - 1
7-151860159-G-A c.10503C>T p.F3501= Synonymous 43/59 - 2
7-151860161-A-C c.10501T>G p.F3501V Missense 43/59 - 1
7-151860167-G-C c.10495C>G p.Q3499E Missense 43/59 - 7
7-151860171-G-A c.10491C>T p.S3497= Synonymous 43/59 - 2
7-151860170-TG-T c.10491del p.T3498Pfs*13 Frameshift 43/59 - 1
7-151860172-G-A c.10490C>T p.S3497F Missense 43/59 - 1
7-151860173-GA-G c.10489del p.S3497Pfs*14 Frameshift 43/59 - 1
7-151860174-G-A c.10488C>T p.P3496= Synonymous 43/59 - 2
7-151860174-G-C c.10488C>G p.P3496= Synonymous 43/59 - 2
7-151860174-G-T c.10488C>A p.P3496= Synonymous 43/59 - 2
7-151860178-G-A c.10484C>T p.S3495L Missense 43/59 - 1
7-151860180-A-C c.10482T>G p.N3494K Missense 43/59 - 1
7-151860182-T-C c.10480A>G p.N3494D Missense 43/59 - 1
7-151860185-T-C c.10477A>G p.I3493V Missense 43/59 - 1
7-151860187-G-C c.10475C>G p.S3492* Nonsense 43/59 - 1
7-151860187-G-T c.10475C>A p.S3492* Nonsense 43/59 - 1
7-151860188-A-T c.10474T>A p.S3492T Missense 43/59 - 1
7-151860190-C-T c.10472G>A p.G3491E Missense 43/59 - 1
7-151860191-C-A c.10471G>T p.G3491* Nonsense 43/59 - 2
7-151860191-C-G c.10471G>C p.G3491R Missense 43/59 - 1
7-151860191-C-T c.10471G>A p.G3491R Missense 43/59 - 2
7-151860195-T-A c.10467A>T p.Q3489H Missense 43/59 - 1
7-151860195-T-C c.10467A>G p.Q3489= Synonymous 43/59 - 2
7-151860196-T-G c.10466A>C p.Q3489P Missense 43/59 - 1
7-151860197-G-A c.10465C>T p.Q3489* Nonsense 43/59 - 1
7-151860198-T-C c.10464A>G p.I3488M Missense 43/59 - 1
7-151860200-T-A c.10462A>T p.I3488L Missense 43/59 - 6
7-151860200-T-C c.10462A>G p.I3488V Missense 43/59 - 2
7-151860200-T-G c.10462A>C p.I3488L Missense 43/59 - 3
7-151860206-G-A c.10456C>T p.Q3486* Nonsense 43/59 - 1
7-151860206-G-T c.10456C>A p.Q3486K Missense 43/59 - 2
7-151860209-G-A c.10453C>T p.Q3485* Nonsense 43/59 - 1
7-151860210-C-A c.10452G>T p.Q3484H Missense 43/59 - 1
7-151860210-C-G c.10452G>C p.Q3484H Missense 43/59 - 1
7-151860212-G-A c.10450C>T p.Q3484* Nonsense 43/59 - 1
7-151860214-A-G c.10448T>C p.L3483S Missense 43/59 - 1
7-151860216-A-C c.10446T>G p.V3482= Synonymous 43/59 - 1
7-151860216-A-G c.10446T>C p.V3482= Synonymous 43/59 - 1
7-151860216-A-T c.10446T>A p.V3482= Synonymous 43/59 - 1
7-151860218-C-T c.10444G>A p.V3482I Missense 43/59 - 2
7-151860219-C-T c.10443G>A p.Q3481= Synonymous 43/59 - 2
7-151860221-G-T c.10441C>A p.Q3481K Missense 43/59 - 1
7-151860222-C-A c.10440G>T p.G3480= Synonymous 43/59 - 1
7-151860222-C-G c.10440G>C p.G3480= Synonymous 43/59 - 1
7-151860222-C-T c.10440G>A p.G3480= Synonymous 43/59 - 2
7-151860224-C-T c.10438G>A p.G3480R Missense 43/59 - 1
7-151860225-C-T c.10437G>A p.M3479I Missense 43/59 - 1
7-151860229-T-A c.10433A>T p.Q3478L Missense 43/59 - 1
7-151860230-G-A c.10432C>T p.Q3478* Nonsense 43/59 - 1
7-151860230-G-C c.10432C>G p.Q3478E Missense 43/59 - 17
7-151860230-G-GT c.10431_10432insA p.Q3478Tfs*17 Frameshift 43/59 - 1
7-151860233-G-A c.10429C>T p.Q3477* Nonsense 43/59 - 1
7-151860235-T-TG c.10426dup p.Q3476Pfs*19 Frameshift 43/59 - 2
7-151860237-G-C c.10425C>G p.H3475Q Missense 43/59 - 2
7-151860237-G-T c.10425C>A p.H3475Q Missense 43/59 - 2
7-151860242-G-A c.10420C>T p.Q3474* Nonsense 43/59 - 1
7-151860244-G-T c.10418C>A p.P3473Q Missense 43/59 - 4
7-151860245-G-A c.10417C>T p.P3473S Missense 43/59 - 2
7-151860249-C-A c.10413G>T p.Q3471H Missense 43/59 - 1
7-151860251-G-A c.10411C>T p.Q3471* Nonsense 43/59 - 3
7-151860252-C-T c.10410G>A p.Q3470= Synonymous 43/59 - 1
7-151860254-G-A c.10408C>T p.Q3470* Nonsense 43/59 - 8
7-151860255-A-T c.10407T>A p.L3469= Synonymous 43/59 - 1
7-151860256-A-C c.10406T>G p.L3469R Missense 43/59 - 1
7-151860258-G-A c.10404C>T p.P3468= Synonymous 43/59 - 1
7-151860258-G-C c.10404C>G p.P3468= Synonymous 43/59 - 1
7-151860258-G-T c.10404C>A p.P3468= Synonymous 43/59 - 1
7-151860259-G-A c.10403C>T p.P3468L Missense 43/59 - 5
7-151860259-G-C c.10403C>G p.P3468R Missense 43/59 - 2
7-151860263-C-A c.10399G>T p.G3467* Nonsense 43/59 - 3
7-151860267-A-AC c.10394_10395insG p.L3466Sfs*29 Frameshift 43/59 - 1
7-151860267-A-C c.10395T>G p.P3465= Synonymous 43/59 - 1
7-151860268-G-C c.10394C>G p.P3465R Missense 43/59 - 1
7-151860271-T-A c.10391A>T p.Q3464L Missense 43/59 - 1
7-151860277-A-C c.10385T>G p.F3462C Missense 43/59 - 3
7-151860278-A-C c.10384T>G p.F3462V Missense 43/59 - 5
7-151860279-A-C c.10383T>G p.D3461E Missense 43/59 - 2
7-151860279-A-T c.10383T>A p.D3461E Missense 43/59 - 1
7-151860281-C-T c.10381G>A p.D3461N Missense 43/59 - 1
7-151860283-C-A c.10379G>T p.C3460F Missense 43/59 - 2
7-151860284-A-C c.10378T>G p.C3460G Missense 43/59 - 2
7-151860287-G-GT c.10374dup p.P3459Tfs*3 Frameshift 43/59 - 1
7-151860291-G-C c.10371C>G p.D3457E Missense 43/59 - 1
7-151860291-G-T c.10371C>A p.D3457E Missense 43/59 - 1
7-151860293-C-T c.10369G>A p.D3457N Missense 43/59 - 5
7-151860294-G-A c.10368C>T p.S3456= Synonymous 43/59 - 3
7-151860294-G-C c.10368C>G p.S3456= Synonymous 43/59 - 2
7-151860294-GG-TT c.10367_10368delinsAA p.S3456* Nonsense 43/59 - 1
7-151860294-G-T c.10368C>A p.S3456= Synonymous 43/59 - 1
7-151860299-T-C c.10363A>G p.S3455G Missense 43/59 - 1
7-151860303-G-A c.10359C>T p.F3453= Synonymous 43/59 - 4
7-151860306-G-A c.10356C>T p.P3452= Synonymous 43/59 - 3
7-151860306-G-C c.10356C>G p.P3452= Synonymous 43/59 - 1
7-151860306-G-T c.10356C>A p.P3452= Synonymous 43/59 - 1
7-151860307-G-A c.10355C>T p.P3452L Missense 43/59 - 8
7-151860307-GG-AA c.10354_10355delinsTT p.P3452F Missense 43/59 - 1
7-151860307-G-T c.10355C>A p.P3452H Missense 43/59 - 1
7-151860308-GA-G c.10353del p.F3453Sfs*14 Frameshift 43/59 - 1
7-151860312-C-A c.10350G>T p.Q3450H Missense 43/59 - 2
7-151860313-T-G c.10349A>C p.Q3450P Missense 43/59 - 1
7-151860314-G-A c.10348C>T p.Q3450* Nonsense 43/59 - 3
7-151860316-G-A c.10346C>T p.S3449F Missense 43/59 - 2
7-151860318-AC-A c.10344del p.S3449Pfs*18 Frameshift 43/59 - 1
7-151860318-C-T c.10344G>A p.V3448= Synonymous 43/59 - 1
7-151860320-C-A c.10342G>T p.V3448L Missense 43/59 - 1
7-151860320-C-G c.10342G>C p.V3448L Missense 43/59 - 1
7-151860322-G-T c.10340C>A p.S3447Y Missense 43/59 - 1
7-151860323-A-G c.10339T>C p.S3447P Missense 43/59 - 1
7-151860325-G-A c.10337C>T p.T3446I Missense 43/59 - 1
7-151860326-T-A c.10336A>T p.T3446S Missense 43/59 - 1
7-151860327-C-T c.10335G>A p.R3445= Synonymous 43/59 - 1
7-151860329-T-G c.10333A>C p.R3445= Synonymous 43/59 - 1
7-151860331-C-G c.10331G>C p.S3444T Missense 43/59 - 6
7-151860331-C-T c.10331G>A p.S3444N Missense 43/59 - 1
7-151860332-T-A c.10330A>T p.S3444C Missense 43/59 - 1
7-151860332-T-C c.10330A>G p.S3444G Missense 43/59 - 1
7-151860334-C-T c.10328G>A p.S3443N Missense 43/59 - 1
7-151860337-C-T c.10325G>A p.S3442N Missense 43/59 - 1
7-151860340-A-G c.10322T>C p.I3441T Missense 43/59 - 1
7-151860343-T-C c.10319A>G p.E3440G Missense 43/59 - 1
7-151860344-C-G c.10318G>C p.E3440Q Missense 43/59 - 2
7-151860348-G-A c.10314C>T p.G3438= Synonymous 43/59 - 1
7-151860348-G-C c.10314C>G p.G3438= Synonymous 43/59 - 1
7-151860348-G-T c.10314C>A p.G3438= Synonymous 43/59 - 1
7-151860349-C-G c.10313G>C p.G3438A Missense 43/59 - 1
7-151860349-C-T c.10313G>A p.G3438D Missense 43/59 - 5
7-151860352-A-C c.10310T>G p.V3437G Missense 43/59 - 1
7-151860353-C-A c.10309G>T p.V3437L Missense 43/59 - 1
7-151860354-C-T c.10308G>A p.M3436I Missense 43/59 - 1
7-151860356-T-C c.10306A>G p.M3436V Missense 43/59 - 1
7-151860358-C-A c.10304G>T p.G3435V Missense 43/59 - 1
7-151860359-C-A c.10303G>T p.G3435C Missense 43/59 - 1
7-151860359-C-T c.10303G>A p.G3435S Missense 43/59 - 1
7-151860363-C-A c.10299G>T p.Q3433H Missense 43/59 - 1
7-151860363-C-G c.10299G>C p.Q3433H Missense 43/59 - 1
7-151860366-C-A c.10296G>T p.E3432D Missense 43/59 - 1
7-151860368-C-A c.10294G>T p.E3432* Nonsense 43/59 - 1
7-151860368-C-G c.10294G>C p.E3432Q Missense 43/59 - 1
7-151860374-C-A c.10288G>T p.E3430* Nonsense 43/59 - 5
7-151860376-A-C c.10286T>G p.M3429R Missense 43/59 - 1
7-151860379-C-A c.10283G>T p.R3428M Missense 43/59 - 1
7-151860383-G-A c.10279C>T p.Q3427* Nonsense 43/59 - 2
7-151860384-C-T c.10278G>A p.Q3426= Synonymous 43/59 - 1
7-151860385-T-C c.10277A>G p.Q3426R Missense 43/59 - 2
7-151860386-G-A c.10276C>T p.Q3426* Nonsense 43/59 - 2
7-151860391-G-A c.10271C>T p.A3424V Missense 43/59 - 1
7-151860392-C-A c.10270G>T p.A3424S Missense 43/59 - 1
7-151860392-C-T c.10270G>A p.A3424T Missense 43/59 - 2
7-151860394-C-G c.10268G>C p.R3423T Missense 43/59 - 1
7-151860400-C-A c.10262G>T p.R3421I Missense 43/59 - 1
7-151860400-C-T c.10262G>A p.R3421K Missense 43/59 - 4
7-151860402-A-G c.10260T>C p.D3420= Synonymous 43/59 - 2
7-151860403-T-C c.10259A>G p.D3420G Missense 43/59 - 1
7-151860404-C-T c.10258G>A p.D3420N Missense 43/59 - 1
7-151860406-A-G c.10256T>C p.V3419A Missense 43/59 - 1
7-151860409-T-A c.10253A>T p.E3418V Missense 43/59 - 1
7-151860409-T-G c.10253A>C p.E3418A Missense 43/59 - 1
7-151860411-C-T c.10251G>A p.Q3417= Synonymous 43/59 - 4
7-151860413-G-T c.10249C>A p.Q3417K Missense 43/59 - 1
7-151860416-T-C c.10246A>G p.M3416V Missense 43/59 - 1
7-151860416-T-G c.10246A>C p.M3416L Missense 43/59 - 1
7-151860420-T-G c.10242A>C p.Q3414H Missense 43/59 - 1
7-151860423-G-A c.10239C>T p.I3413= Synonymous 43/59 - 1
7-151860427-C-T c.10235G>A p.R3412Q Missense 43/59 - 2
7-151860426-C-A c.10236G>T p.R3412= Synonymous 43/59 - 1
7-151860426-C-G c.10236G>C p.R3412= Synonymous 43/59 - 1
7-151860426-C-T c.10236G>A p.R3412= Synonymous 43/59 - 2
7-151860428-G-A c.10234C>T p.R3412W Missense 43/59 - 4
7-151860428-G-C c.10234C>G p.R3412G Missense 43/59 - 1
7-151860428-G-T c.10234C>A p.R3412= Synonymous 43/59 - 1
7-151860430-T-C c.10232A>G p.Q3411R Missense 43/59 - 2
7-151860431-G-A c.10231C>T p.Q3411* Nonsense 43/59 - 3
7-151860431-G-C c.10231C>G p.Q3411E Missense 43/59 - 1
7-151860433-C-T c.10229G>A p.R3410K Missense 43/59 - 2
7-151860434-T-A c.10228A>T p.R3410* Nonsense 43/59 - 1
7-151860435-C-G c.10227G>C p.E3409D Missense 43/59 - 1
7-151860431-GTC-G c.10229_10230del p.R3410Tfs*11 Frameshift 43/59 - 1
7-151860437-C-G c.10225G>C p.E3409Q Missense 43/59 - 1
7-151860438-T-A c.10224A>T p.Q3408H Missense 43/59 - 3
7-151860440-G-A c.10222C>T p.Q3408* Nonsense 43/59 - 1
7-151860440-G-C c.10222C>G p.Q3408E Missense 43/59 - 1
7-151860441-GC-G c.10221del p.Q3407Hfs*13 Frameshift 43/59 - 1
7-151860443-G-A c.10219C>T p.Q3407* Nonsense 43/59 - 1
7-151860446-C-T c.10216G>A p.E3406K Missense 43/59 - 1
7-151860447-T-A c.10215A>T p.R3405= Synonymous 43/59 - 2
7-151860448-C-T c.10214G>A p.R3405Q Missense 43/59 - 4
7-151860449-G-A c.10213C>T p.R3405* Nonsense 43/59 - 8
7-151860453-AACG-A c.10207_10209del p.R3403del InFrameDeletion 43/59 - 1
7-151860454-C-T c.10208G>A p.R3403H Missense 43/59 - 4
7-151860455-G-A c.10207C>T p.R3403C Missense 43/59 - 6
7-151860461-T-A c.10201A>T p.K3401* Nonsense 43/59 - 3
7-151860462-A-C c.10200T>G p.R3400= Synonymous 43/59 - 1
7-151860462-A-G c.10200T>C p.R3400= Synonymous 43/59 - 1
7-151860462-A-T c.10200T>A p.R3400= Synonymous 43/59 - 1
7-151860463-C-T c.10199G>A p.R3400H Missense 43/59 - 6
7-151860464-G-A c.10198C>T p.R3400C Missense 43/59 - 3
7-151860467-C-A c.10195G>T p.E3399* Nonsense 43/59 - 1
7-151860469-C-A c.10193G>T p.R3398L Missense 43/59 - 3
7-151860469-C-T c.10193G>A p.R3398Q Missense 43/59 - 2
7-151860470-G-A c.10192C>T p.R3398W Missense 43/59 - 8
7-151860471-T-C c.10191A>G p.E3397= Synonymous 43/59 - 1
7-151860472-T-G c.10190A>C p.E3397A Missense 43/59 - 3
7-151860473-C-G c.10189G>C p.E3397Q Missense 43/59 - 1
7-151860476-G-A c.10186C>T p.Q3396* Nonsense 43/59 - 2
7-151860476-G-C c.10186C>G p.Q3396E Missense 43/59 - 4
7-151860476-TG-T c.10186del p.Q3396Kfs*24 Frameshift 43/59 - 2
7-151860478-A-AC c.10183_10184insG p.F3395Cfs*7 Frameshift 43/59 - 1
7-151860479-A-C c.10183T>G p.F3395V Missense 43/59 - 1
7-151860480-ACT-TCA c.10180_10182delinsTGA p.S3394* Nonsense 43/59 - 1
7-151860480-A-T c.10182T>A p.S3394R Missense 43/59 - 2
7-151860481-C-T c.10181G>A p.S3394N Missense 43/59 - 12
7-151860485-C-A c.10177G>T p.E3393* Nonsense 43/59 - 1
7-151860485-C-T c.10177G>A p.E3393K Missense 43/59 - 2
7-151860489-A-G c.10173T>C p.F3391= Synonymous 43/59 - 1
7-151860493-G-A c.10169C>T p.P3390L Missense 43/59 - 2
7-151860494-G-C c.10168C>G p.P3390A Missense 43/59 - 1
7-151860495-A-T c.10167T>A p.N3389K Missense 43/59 - 1
7-151860495-GATT-G c.10165_10167del p.N3389del InFrameDeletion 43/59 - 1
7-151860498-G-A c.10164C>T p.N3388= Synonymous 43/59 - 1
7-151860499-T-C c.10163A>G p.N3388S Missense 43/59 - 5
7-151860499-T-G c.10163A>C p.N3388T Missense 43/59 - 1
7-151860500-T-A c.10162A>T p.N3388Y Missense 43/59 - 1
7-151860501-G-A c.10161C>T p.D3387= Synonymous 43/59 - 2
7-151860504-A-C c.10158T>G p.D3386E Missense 43/59 - 1
7-151860504-A-T c.10158T>A p.D3386E Missense 43/59 - 1
7-151860506-C-A c.10156G>T p.D3386Y Missense 43/59 - 2
7-151860506-C-G c.10156G>C p.D3386H Missense 43/59 - 2
7-151860506-C-T c.10156G>A p.D3386N Missense 43/59 - 1
7-151860507-A-T c.10155T>A p.F3385L Missense 43/59 - 2
7-151860507-A-C c.10155T>G p.F3385L Missense 43/59 - 1
7-151860509-A-G c.10153T>C p.F3385L Missense 43/59 - 2
7-151860511-T-C c.10151A>G p.E3384G Missense 43/59 - 2
7-151860512-C-A c.10150G>T p.E3384* Nonsense 43/59 - 2
7-151860512-C-CA c.10149_10150insT p.E3384* Nonsense 43/59 - 1
7-151860512-C-G c.10150G>C p.E3384Q Missense 43/59 - 2
7-151860513-T-A c.10149A>T p.V3383= Synonymous 43/59 - 1
7-151860513-T-C c.10149A>G p.V3383= Synonymous 43/59 - 4
7-151860513-T-G c.10149A>C p.V3383= Synonymous 43/59 - 1
7-151860516-CCG-GAT c.10144_10146delinsATC p.R3382I Missense 43/59 - 1
7-151860516-C-T c.10146G>A p.R3382= Synonymous 43/59 - 1
7-151860514-AC-A c.10147del p.V3383* Frameshift 43/59 - 1
7-151860517-C-A c.10145G>T p.R3382L Missense 43/59 - 1
7-151860517-C-T c.10145G>A p.R3382Q Missense 43/59 - 1
7-151860518-G-A c.10144C>T p.R3382W Missense 43/59 - 9
7-151860523-G-A c.10139C>T p.P3380L Missense 43/59 - 2
7-151860524-G-A c.10138C>T p.P3380S Missense 43/59 - 5
7-151860532-C-T c.10130G>A p.S3377N Missense 43/59 - 1
7-151860534-C-A c.10128G>T p.Q3376H Missense 43/59 - 1
7-151860534-C-G c.10128G>C p.Q3376H Missense 43/59 - 1
7-151860535-T-C c.10127A>G p.Q3376R Missense 43/59 - 1
7-151860536-G-A c.10126C>T p.Q3376* Nonsense 43/59 - 1
7-151860539-G-T c.10123C>A p.P3375T Missense 43/59 - 1
7-151860542-T-A c.10120A>T p.N3374Y Missense 43/59 - 1
7-151860545-GCATTTGAGAC-G c.10108_10117del p.V3370Qfs*11 Frameshift 43/59 - 1
7-151860547-T-C c.10115A>G p.N3372S Missense 43/59 - 1
7-151860549-T-G c.10113A>C p.S3371= Synonymous 43/59 - 1
7-151860550-G-C c.10112C>G p.S3371* Nonsense 43/59 - 7
7-151860550-G-T c.10112C>A p.S3371* Nonsense 43/59 - 3
7-151860552-GAC-CAT c.10108_10110delinsATG p.V3370M Missense 43/59 - 1
7-151860554-C-A c.10108G>T p.V3370F Missense 43/59 - 1
7-151860557-GT-G c.10105del p.T3369Qfs*15 Frameshift 43/59 - 1
7-151860559-CC-TT c.10102_10103delinsAA p.G3368K Missense 43/59 - 1
7-151860559-C-T c.10103G>A p.G3368E Missense 43/59 - 2
7-151860560-C-T c.10102G>A p.G3368R Missense 43/59 - 1
7-151860562-G-A c.10100C>T p.P3367L Missense 43/59 - 1
7-151860563-G-A c.10099C>T p.P3367S Missense 43/59 - 1
7-151860566-C-A c.10096G>T p.A3366S Missense 43/59 - 1
7-151860567-T-A c.10095A>T p.P3365= Synonymous 43/59 - 2
7-151860567-T-TGATATAATTC c.10094_10095insGAATTATATC p.A3366Nfs*24 Frameshift 43/59 - 1
7-151860571-G-T c.10091C>A p.T3364K Missense 43/59 - 1
7-151860574-C-A c.10088G>T p.C3363F Missense 43/59 - 1
7-151860574-C-T c.10088G>A p.C3363Y Missense 43/59 - 5
7-151860580-T-G c.10082A>C p.K3361T Missense 43/59 - 1
7-151860581-T-A c.10081A>T p.K3361* Nonsense 43/59 - 1
7-151860577-GT-G c.10084del p.T3362Lfs*22 Frameshift 43/59 - 1
7-151860580-TTTA-T c.10079_10081del p.I3360del InFrameDeletion 43/59 - 1
7-151860584-T-A c.10078A>T p.I3360L Missense 43/59 - 1
7-151860584-T-G c.10078A>C p.I3360L Missense 43/59 - 1
7-151860587-G-A c.10075C>T p.P3359S Missense 43/59 - 1
7-151860587-G-T c.10075C>A p.P3359T Missense 43/59 - 1
7-151860590-A-C c.10072T>G p.L3358V Missense 43/59 - 1
7-151860591-C-T c.10071G>A p.Q3357= Synonymous 43/59 - 1
7-151860592-T-A c.10070A>T p.Q3357L Missense 43/59 - 1
7-151860595-G-A c.10067C>T p.A3356V Missense 43/59 - 1
7-151860596-C-G c.10066G>C p.A3356P Missense 43/59 - 1
7-151860599-T-C c.10063A>G p.I3355V Missense 43/59 - 1
7-151860599-T-G c.10063A>C p.I3355L Missense 43/59 - 2
7-151860602-G-A c.10060C>T p.P3354S Missense 43/59 - 1
7-151860605-G-C c.10057C>G p.P3353A Missense 43/59 - 2
7-151860608-G-A c.10054C>T p.Q3352* Nonsense 43/59 - 2
7-151860611-T-C c.10051A>G p.I3351V Missense 43/59 - 1
7-151860613-C-T c.10049G>A p.R3350K Missense 43/59 - 4
7-151860616-G-A c.10046C>T p.P3349L Missense 43/59 - 2
7-151860617-G-A c.10045C>T p.P3349S Missense 43/59 - 2
7-151860620-G-T c.10042C>A p.P3348T Missense 43/59 - 1
7-151860622-T-C c.10040A>G p.N3347S Missense 43/59 - 10
7-151860623-T-G c.10039A>C p.N3347H Missense 43/59 - 1
7-151860625-AG-CT c.10036_10037inv p.L3346S Missense 43/59 - 1
7-151860626-G-A c.10036C>T p.L3346F Missense 43/59 - 1
7-151860626-G-C c.10036C>G p.L3346V Missense 43/59 - 1
7-151860627-G-A c.10035C>T p.P3345= Synonymous 43/59 - 1
7-151860628-G-A c.10034C>T p.P3345L Missense 43/59 - 1
7-151860628-G-T c.10034C>A p.P3345H Missense 43/59 - 1
7-151860629-G-A c.10033C>T p.P3345S Missense 43/59 - 1
7-151860634-T-A c.10028A>T p.H3343L Missense 43/59 - 2
7-151860634-T-G c.10028A>C p.H3343P Missense 43/59 - 1
7-151860635-G-T c.10027C>A p.H3343N Missense 43/59 - 1
7-151860637-G-A c.10025C>T p.A3342V Missense 43/59 - 1
7-151860638-C-A c.10024G>T p.A3342S Missense 43/59 - 1
7-151860641-G-A c.10021C>T p.P3341S Missense 43/59 - 5
7-151860641-G-T c.10021C>A p.P3341T Missense 43/59 - 5
7-151860645-A-C c.10017T>G p.S3339R Missense 43/59 - 1
7-151860649-T-C c.10013A>G p.N3338S Missense 43/59 - 2
7-151860652-G-A c.10010C>T p.P3337L Missense 43/59 - 1
7-151860652-G-C c.10010C>G p.P3337R Missense 43/59 - 3
7-151860653-G-A c.10009C>T p.P3337S Missense 43/59 - 2
7-151860655-T-G c.10007A>C p.Q3336P Missense 43/59 - 1
7-151860657-C-T c.10005G>A p.W3335* Nonsense 43/59 - 1
7-151860658-C-T c.10004G>A p.W3335* Nonsense 43/59 - 1
7-151860660-T-A c.10002A>T p.G3334= Synonymous 43/59 - 1
7-151860660-T-C c.10002A>G p.G3334= Synonymous 43/59 - 1
7-151860660-T-G c.10002A>C p.G3334= Synonymous 43/59 - 1
7-151860662-C-T c.10000G>A p.G3334R Missense 43/59 - 1
7-151860667-A-C c.9995T>G p.L3332* Nonsense 43/59 - 1
7-151860667-A-T c.9995T>A p.L3332* Nonsense 43/59 - 2
7-151860668-A-T c.9994T>A p.L3332I Missense 43/59 - 1
7-151860666-T-TAAAA c.9995_9996insTTTT p.L3332Ffs*20 Frameshift 43/59 - 1
7-151860671-CT-C c.9991del p.S3331Vfs*30 Frameshift 43/59 - 2
7-151860671-T-A c.9991A>T p.S3331C Missense 43/59 - 1
7-151860673-G-C c.9989C>G p.P3330R Missense 43/59 - 1
7-151860673-GG-AT c.9988_9989delinsAT p.P3330I Missense 43/59 - 1
7-151860674-G-A c.9988C>T p.P3330S Missense 43/59 - 2
7-151860675-C-T c.9987G>A p.M3329I Missense 43/59 - 4
7-151860682-A-C c.9980T>G p.V3327G Missense 43/59 - 1
7-151860682-A-G c.9980T>C p.V3327A Missense 43/59 - 1
7-151860685-G-A c.9977C>T p.P3326L Missense 43/59 - 7
7-151860688-C-A c.9974G>T p.S3325I Missense 43/59 - 2
7-151860689-T-A c.9973A>T p.S3325C Missense 43/59 - 1
7-151860694-T-A c.9968A>T p.H3323L Missense 43/59 - 1
7-151860694-T-C c.9968A>G p.H3323R Missense 43/59 - 1
7-151860694-T-G c.9968A>C p.H3323P Missense 43/59 - 5
7-151860695-G-T c.9967C>A p.H3323N Missense 43/59 - 1
7-151860696-G-A c.9966C>T p.G3322= Synonymous 43/59 - 1
7-151860696-G-C c.9966C>G p.G3322= Synonymous 43/59 - 1
7-151860696-G-T c.9966C>A p.G3322= Synonymous 43/59 - 3
7-151860697-C-A c.9965G>T p.G3322V Missense 43/59 - 1
7-151860697-C-T c.9965G>A p.G3322D Missense 43/59 - 2
7-151860696-G-GCCTGTTTTTTTTAATGATACGGCGACCACCGAGATCTACACTCTTTCCCTACACAACGCTCTTCCCATCT c.9965_9966insAGATGGGAAGAGCGTTGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAACAGG p.H3323Dfs*7 Frameshift 43/59 - 1
7-151860698-C-T c.9964G>A p.G3322S Missense 43/59 - 1
7-151860703-A-G c.9959T>C p.I3320T Missense 43/59 - 1
7-151860706-A-G c.9956T>C p.V3319A Missense 43/59 - 1
7-151860706-A-T c.9956T>A p.V3319D Missense 43/59 - 1
7-151860707-C-A c.9955G>T p.V3319F Missense 43/59 - 2
7-151860707-C-T c.9955G>A p.V3319I Missense 43/59 - 3
7-151860709-G-A c.9953C>T p.T3318I Missense 43/59 - 1
7-151860710-T-C c.9952A>G p.T3318A Missense 43/59 - 1
7-151860712-G-A c.9950C>T p.T3317I Missense 43/59 - 2
7-151860712-G-T c.9950C>A p.T3317K Missense 43/59 - 1
7-151860713-T-G c.9949A>C p.T3317P Missense 43/59 - 1
7-151860715-T-C c.9947A>G p.H3316R Missense 43/59 - 1
7-151860716-G-A c.9946C>T p.H3316Y Missense 43/59 - 1
7-151860717-C-A c.9945G>T p.Q3315H Missense 43/59 - 1
7-151860717-C-G c.9945G>C p.Q3315H Missense 43/59 - 1
7-151860719-G-A c.9943C>T p.Q3315* Nonsense 43/59 - 2
7-151860720-C-A c.9942G>T p.Q3314H Missense 43/59 - 1
7-151860722-G-A c.9940C>T p.Q3314* Nonsense 43/59 - 1
7-151860726-C-T c.9936G>A p.Q3312= Synonymous 43/59 - 1
7-151860728-G-A c.9934C>T p.Q3312* Nonsense 43/59 - 10
7-151860728-G-T c.9934C>A p.Q3312K Missense 43/59 - 3
7-151860731-G-A c.9931C>T p.L3311F Missense 43/59 - 6
7-151860732-C-A c.9930G>T p.Q3310H Missense 43/59 - 2
7-151860732-C-G c.9930G>C p.Q3310H Missense 43/59 - 2
7-151860733-T-G c.9929A>C p.Q3310P Missense 43/59 - 1
7-151860737-G-A c.9925C>T p.Q3309* Nonsense 43/59 - 1
7-151860738-T-A c.9924A>T p.P3308= Synonymous 43/59 - 1
7-151860738-T-C c.9924A>G p.P3308= Synonymous 43/59 - 1
7-151860738-T-G c.9924A>C p.P3308= Synonymous 43/59 - 1
7-151860739-G-T c.9923C>A p.P3308Q Missense 43/59 - 1
7-151860738-TG-T c.9923del p.P3308Hfs*53 Frameshift 43/59 - 1
7-151860740-G-A c.9922C>T p.P3308S Missense 43/59 - 1
7-151860741-C-T c.9921G>A p.V3307= Synonymous 43/59 - 2
7-151860743-C-T c.9919G>A p.V3307M Missense 43/59 - 3
7-151860747-G-A c.9915C>T p.P3305= Synonymous 43/59 - 2
7-151860747-G-C c.9915C>G p.P3305= Synonymous 43/59 - 2
7-151860747-G-T c.9915C>A p.P3305= Synonymous 43/59 - 2
7-151860749-G-A c.9913C>T p.P3305S Missense 43/59 - 2
7-151860749-G-T c.9913C>A p.P3305T Missense 43/59 - 1
7-151860751-A-C c.9911T>G p.F3304C Missense 43/59 - 1
7-151860753-G-A c.9909C>T p.T3303= Synonymous 43/59 - 1
7-151860753-G-C c.9909C>G p.T3303= Synonymous 43/59 - 1
7-151860753-G-T c.9909C>A p.T3303= Synonymous 43/59 - 1
7-151860754-G-T c.9908C>A p.T3303N Missense 43/59 - 1
7-151860755-T-G c.9907A>C p.T3303P Missense 43/59 - 4
7-151860758-G-A c.9904C>T p.P3302S Missense 43/59 - 1
7-151860759-T-C c.9903A>G p.Q3301= Synonymous 43/59 - 2
7-151860761-G-A c.9901C>T p.Q3301* Nonsense 43/59 - 1
7-151860764-T-C c.9898A>G p.S3300G Missense 43/59 - 1
7-151860765-C-A c.9897G>T p.M3299I Missense 43/59 - 5
7-151860765-C-G c.9897G>C p.M3299I Missense 43/59 - 4
7-151860765-C-T c.9897G>A p.M3299I Missense 43/59 - 6
7-151860772-G-A c.9890C>T p.P3297L Missense 43/59 - 2
7-151860776-G-A c.9886C>T p.P3296S Missense 43/59 - 3
7-151860778-G-A c.9884C>T p.T3295I Missense 43/59 - 1
7-151860785-C-T c.9877G>A p.G3293S Missense 43/59 - 1
7-151860787-G-A c.9875C>T p.P3292L Missense 43/59 - 2
7-151860788-G-A c.9874C>T p.P3292S Missense 43/59 - 1
7-151860793-AG-TA c.9868_9869delinsTA p.L3290* Nonsense 43/59 - 1
7-151860796-G-A c.9866C>T p.P3289L Missense 43/59 - 3
7-151860797-G-T c.9865C>A p.P3289T Missense 43/59 - 2
7-151860798-T-A c.9864A>T p.P3288= Synonymous 43/59 - 3
7-151860800-G-C c.9862C>G p.P3288A Missense 43/59 - 1
7-151860806-G-A c.9856C>T p.P3286S Missense 43/59 - 2
7-151860808-T-A c.9854A>T p.Q3285L Missense 43/59 - 1
7-151860809-G-A c.9853C>T p.Q3285* Nonsense 43/59 - 4
7-151860809-G-T c.9853C>A p.Q3285K Missense 43/59 - 1
7-151860810-G-A c.9852C>T p.V3284= Synonymous 43/59 -