RHOA

RHOA ras homolog family member A

Annotation transcript: NM_001664.4

728 unique variant annotations were identified in 873 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
3-49396652-G-A c.*990C>T - 3-UTRSNV 5/5 - 1
3-49396652-G-C c.*990C>G - 3-UTRSNV 5/5 - 1
3-49396708-T-C c.*934A>G - 3-UTRSNV 5/5 - 1
3-49396712-T-C c.*930A>G - 3-UTRSNV 5/5 - 1
3-49396751-T-C c.*891A>G - 3-UTRSNV 5/5 - 37
3-49397284-T-A c.*358A>T - 3-UTRSNV 5/5 - 8
3-49397323-T-C c.*319A>G - 3-UTRSNV 5/5 - 1
3-49397467-G-A c.*175C>T - 3-UTRSNV 5/5 - 1
3-49397613-C-T c.*29G>A - 3-UTRSNV 5/5 - 1
3-49397643-C-T c.581G>A p.*194= Synonymous 5/5 - 2
3-49397646-AAGAC-A c.574_577del p.V192Cfs*13 Frameshift 5/5 - 1
3-49397650-AC-A c.574del p.V192Sfs*14 Frameshift 5/5 - 1
3-49397650-C-T c.574G>A p.V192I Missense 5/5 - 5
3-49397653-G-A c.571C>T p.L191F Missense 5/5 - 1
3-49397655-C-A c.569G>T p.C190F Missense 5/5 - 1
3-49397655-CA-GC c.568_569delinsGC p.C190A Missense 5/5 - 2
3-49397655-C-G c.569G>C p.C190S Missense 5/5 - 1
3-49397656-A-T c.568T>A p.C190S Missense 5/5 - 1
3-49397658-C-A c.566G>T p.G189V Missense 5/5 - 1
3-49397659-C-A c.565G>T p.G189W Missense 5/5 - 1
3-49397661-G-GT c.562_563insA p.S188Yfs*30 Frameshift 5/5 - 1
3-49397663-T-C c.561A>G p.K187= Synonymous 5/5 - 2
3-49397664-T-C c.560A>G p.K187R Missense 5/5 - 1
3-49397664-T-G c.560A>C p.K187T Missense 5/5 - 1
3-49397662-A-AT c.561dup p.S188Ifs*30 Frameshift 5/5 - 4
3-49397662-AT-A c.561del p.K187Nfs*19 Frameshift 5/5 - 1
3-49397667-TTC-T c.555_556del p.K187Ifs*30 Frameshift 5/5 - 1
3-49397672-CCC-GCT c.550_552delinsAGC p.G184S Missense 5/5 - 1
3-49397673-C-T c.551G>A p.G184E Missense 5/5 - 4
3-49397671-TC-T c.552del p.K185Rfs*21 Frameshift 5/5 - 1
3-49397674-C-A c.550G>T p.G184W Missense 5/5 - 1
3-49397675-ACG-CCA c.547_549delinsTGG p.R183W Missense 5/5 - 3
3-49397676-C-T c.548G>A p.R183H Missense 5/5 - 2
3-49397677-G-A c.547C>T p.R183C Missense 5/5 - 3
3-49397678-T-A c.546A>T p.R182S Missense 5/5 - 1
3-49397678-T-G c.546A>C p.R182S Missense 5/5 - 1
3-49397679-CT-TG c.544_545delinsCA p.R182Q Missense 5/5 - 1
3-49397682-G-C c.542C>G p.A181G Missense 5/5 - 1
3-49397682-G-T c.542C>A p.A181D Missense 5/5 - 1
3-49397687-C-A c.537G>T p.L179= Synonymous 5/5 - 1
3-49397687-C-G c.537G>C p.L179= Synonymous 5/5 - 1
3-49397687-C-T c.537G>A p.L179= Synonymous 5/5 - 1
3-49397689-G-A c.535C>T p.L179= Synonymous 5/5 - 1
3-49397688-A-G c.536T>C p.L179P Missense 5/5 - 2
3-49397689-G-T c.535C>A p.L179M Missense 5/5 - 1
3-49397691-G-A c.533C>T p.A178V Missense 5/5 - 3
3-49397692-C-A c.532G>T p.A178S Missense 5/5 - 1
3-49397692-C-T c.532G>A p.A178T Missense 5/5 - 1
3-49397694-G-T c.530C>A p.A177D Missense 5/5 - 1
3-49397696-TCT-ACA c.526_528delinsTGT p.R176C Missense 5/5 - 1
3-49397697-C-T c.527G>A p.R176K Missense 5/5 - 1
3-49397697-CT-TG c.526_527delinsCA p.R176Q Missense 5/5 - 1
3-49397698-T-C c.526A>G p.R176G Missense 5/5 - 4
3-49397700-G-A c.524C>T p.T175M Missense 5/5 - 6
3-49397700-G-C c.524C>G p.T175R Missense 5/5 - 1
3-49397702-A-C c.522T>G p.A174= Synonymous 5/5 - 1
3-49397702-A-G c.522T>C p.A174= Synonymous 5/5 - 4
3-49397702-A-T c.522T>A p.A174= Synonymous 5/5 - 1
3-49397704-C-G c.520G>C p.A174P Missense 5/5 - 1
3-49397707-T-A c.517A>T p.M173L Missense 5/5 - 1
3-49397707-T-G c.517A>C p.M173L Missense 5/5 - 1
3-49397708-T-C c.516A>G p.E172= Synonymous 5/5 - 3
3-49397710-C-G c.514G>C p.E172Q Missense 5/5 - 4
3-49397710-C-T c.514G>A p.E172K Missense 5/5 - 17
3-49397711-A-C c.513T>G p.F171L Missense 5/5 - 1
3-49397711-A-T c.513T>A p.F171L Missense 5/5 - 1
3-49397713-A-G c.511T>C p.F171L Missense 5/5 - 1
3-49397720-TCT-ATG c.502_504delinsCAT p.R168H Missense 5/5 - 1
3-49397721-C-G c.503G>C p.R168T Missense 5/5 - 6
3-49397721-CT-TG c.502_503delinsCA p.R168Q Missense 5/5 - 1
3-49397723-CAC-GAT c.499_501delinsATC p.V167I Missense 5/5 - 1
3-49397726-TCC-GCT c.496_498delinsAGC p.G166S Missense 5/5 - 1
3-49397727-C-T c.497G>A p.G166E Missense 5/5 - 2
3-49397728-C-T c.496G>A p.G166R Missense 5/5 - 1
3-49397732-T-A c.492A>T p.K164N Missense 5/5 - 4
3-49397732-T-G c.492A>C p.K164N Missense 5/5 - 4
3-49397732-TT-CA c.491_492delinsTG p.K164M Missense 5/5 - 1
3-49397733-T-C c.491A>G p.K164R Missense 5/5 - 2
3-49397733-T-G c.491A>C p.K164T Missense 5/5 - 1
3-49397734-T-A c.490A>T p.K164* Nonsense 5/5 - 1
3-49397734-T-C c.490A>G p.K164E Missense 5/5 - 1
3-49397734-T-G c.490A>C p.K164Q Missense 5/5 - 1
3-49397737-T-A c.487A>T p.T163S Missense 5/5 - 1
3-49397738-C-A c.486G>T p.K162N Missense 5/5 - 4
3-49397738-C-G c.486G>C p.K162N Missense 5/5 - 1
3-49397739-T-C c.485A>G p.K162R Missense 5/5 - 2
3-49397740-TTTGCTGAAC-T c.476_484del p.C159_K162delins* MultiAAMissense 5/5 - 1
3-49397742-G-A c.482C>T p.A161V Missense 5/5 - 23
3-49397742-G-T c.482C>A p.A161E Missense 5/5 - 7
3-49397743-C-G c.481G>C p.A161P Missense 5/5 - 8
3-49397743-C-T c.481G>A p.A161T Missense 5/5 - 6
3-49397744-T-A c.480A>T p.S160= Synonymous 5/5 - 1
3-49397744-T-C c.480A>G p.S160= Synonymous 5/5 - 2
3-49397744-T-G c.480A>C p.S160= Synonymous 5/5 - 1
3-49397745-G-A c.479C>T p.S160L Missense 5/5 - 2
3-49397745-G-C c.479C>G p.S160* Nonsense 5/5 - 4
3-49397745-G-T c.479C>A p.S160* Nonsense 5/5 - 2
3-49397749-A-G c.475T>C p.C159R Missense 5/5 - 1
3-49397752-C-T c.472G>A p.E158K Missense 5/5 - 1
3-49397755-T-C c.469A>G p.M157V Missense 5/5 - 1
3-49397756-G-A c.468C>T p.Y156= Synonymous 5/5 - 1
3-49397757-T-C c.467A>G p.Y156C Missense 5/5 - 1
3-49397760-C-A c.464G>T p.G155V Missense 5/5 - 2
3-49397763-A-C c.461T>G p.F154C Missense 5/5 - 5
3-49397766-G-C c.458C>G p.A153G Missense 5/5 - 2
3-49397767-C-T c.457G>A p.A153T Missense 5/5 - 1
3-49397768-G-A c.456C>T p.G152= Synonymous 5/5 - 1
3-49397768-G-C c.456C>G p.G152= Synonymous 5/5 - 1
3-49397768-G-T c.456C>A p.G152= Synonymous 5/5 - 1
3-49397769-C-T c.455G>A p.G152D Missense 5/5 - 1
3-49397770-C-A c.454G>T p.G152C Missense 5/5 - 4
3-49397770-C-G c.454G>C p.G152R Missense 5/5 - 1
3-49397774-C-A c.450G>T p.R150S Missense 5/5 - 1
3-49397774-CCT-ACA c.448_450delinsTGT p.R150C Missense 5/5 - 1
3-49397774-C-G c.450G>C p.R150S Missense 5/5 - 1
3-49397776-T-A c.448A>T p.R150W Missense 5/5 - 1
3-49397776-T-C c.448A>G p.R150G Missense 5/5 - 2
3-49397782-C-G c.442G>C p.A148P Missense 5/5 - 1
3-49397782-C-T c.442G>A p.A148T Missense 5/5 - 3
3-49397783-C-A c.441G>T p.M147I Missense 5/5 - 2
3-49397783-C-G c.441G>C p.M147I Missense 5/5 - 1
3-49397783-C-T c.441G>A p.M147I Missense 5/5 - 1
3-49397786-A-C c.438T>G p.D146E Missense 5/5 - 4
3-49397786-A-T c.438T>A p.D146E Missense 5/5 - 2
3-49397789-T-C c.435A>G p.R145= Synonymous 5/5 - 1
3-49397789-TCT-ATG c.433_435delinsCAT p.R145H Missense 5/5 - 1
3-49397790-C-G c.434G>C p.R145T Missense 5/5 - 2
3-49397790-C-T c.434G>A p.R145K Missense 5/5 - 1
3-49397795-T-C c.429A>G p.E143= Synonymous 5/5 - 1
3-49397798-T-A c.426A>T p.E142D Missense 5/5 - 2
3-49397798-T-C c.426A>G p.E142= Synonymous 5/5 - 1
3-49397798-T-G c.426A>C p.E142D Missense 5/5 - 2
3-49397799-T-G c.425A>C p.E142A Missense 5/5 - 1
3-49397800-C-A c.424G>T p.E142* Nonsense 5/5 - 1
3-49397800-C-T c.424G>A p.E142K Missense 5/5 - 5
3-49397803-G-T c.421C>A p.P141T Missense 5/5 - 1
3-49397804-T-C c.420A>G p.K140= Synonymous 5/5 - 1
3-49397805-T-C c.419A>G p.K140R Missense 5/5 - 1
3-49397807-C-A c.417G>T p.V139= Synonymous 5/5 - 1
3-49397807-C-G c.417G>C p.V139= Synonymous 5/5 - 1
3-49397807-C-T c.417G>A p.V139= Synonymous 5/5 - 4
3-49397808-A-T c.416T>A p.V139E Missense 5/5 - 1
3-49397809-C-A c.415G>T p.V139L Missense 5/5 - 2
3-49397809-C-G c.415G>C p.V139L Missense 5/5 - 1
3-49397811-G-A c.413C>T p.P138L Missense 5/5 - 2
3-49397811-G-T c.413C>A p.P138Q Missense 5/5 - 1
3-49397812-G-A c.412C>T p.P138S Missense 5/5 - 1
3-49397814-T-G c.410A>C p.E137A Missense 5/5 - 1
3-49397815-C-T c.409G>A p.E137K Missense 5/5 - 2
3-49398464-G-A c.409-649C>T - IntronicSNV - 4/4 1
3-49398514-C-A c.409-699G>T - IntronicSNV - 4/4 5
3-49398514-C-G c.409-699G>C - IntronicSNV - 4/4 5
3-49398519-C-A c.409-704G>T - IntronicSNV - 4/4 1
3-49398552-G-A c.409-737C>T - IntronicSNV - 4/4 1
3-49399259-G-A c.408+670C>T - IntronicSNV - 4/4 8
3-49399706-C-A c.408+223G>T - IntronicSNV - 4/4 1
3-49399706-C-T c.408+223G>A - IntronicSNV - 4/4 1
3-49399926-T-C c.408+3A>G - IntronicSNV - 4/4 1
3-49399929-C-A c.408G>T p.Q136H Missense 4/5 - 1
3-49399929-C-G c.408G>C p.Q136H Missense 4/5 - 1
3-49399930-T-C c.407A>G p.Q136R Missense 4/5 - 1
3-49399930-T-G c.407A>C p.Q136P Missense 4/5 - 1
3-49399931-G-C c.406C>G p.Q136E Missense 4/5 - 1
3-49399931-G-T c.406C>A p.Q136K Missense 4/5 - 1
3-49399932-C-G c.405G>C p.K135N Missense 4/5 - 1
3-49399932-C-T c.405G>A p.K135= Synonymous 4/5 - 1
3-49399933-T-C c.404A>G p.K135R Missense 4/5 - 1
3-49399934-T-C c.403A>G p.K135E Missense 4/5 - 1
3-49399935-C-A c.402G>T p.M134I Missense 4/5 - 1
3-49399935-C-G c.402G>C p.M134I Missense 4/5 - 1
3-49399935-C-T c.402G>A p.M134I Missense 4/5 - 2
3-49399936-A-G c.401T>C p.M134T Missense 4/5 - 2
3-49399937-T-A c.400A>T p.M134L Missense 4/5 - 2
3-49399938-C-T c.399G>A p.K133= Synonymous 4/5 - 1
3-49399939-T-A c.398A>T p.K133M Missense 4/5 - 1
3-49399939-T-C c.398A>G p.K133R Missense 4/5 - 1
3-49399939-T-G c.398A>C p.K133T Missense 4/5 - 1
3-49399941-G-A c.396C>T p.A132= Synonymous 4/5 - 1
3-49399941-G-C c.396C>G p.A132= Synonymous 4/5 - 1
3-49399941-G-T c.396C>A p.A132= Synonymous 4/5 - 1
3-49399949-C-A c.388G>T p.E130* Nonsense 4/5 - 2
3-49399950-CCG-ACA c.385_387delinsTGT p.R129C Missense 4/5 - 1
3-49399950-C-T c.387G>A p.R129= Synonymous 4/5 - 1
3-49399951-C-A c.386G>T p.R129L Missense 4/5 - 7
3-49399952-G-A c.385C>T p.R129W Missense 4/5 - 5
3-49399953-C-T c.384G>A p.R128= Synonymous 4/5 - 2
3-49399955-T-G c.382A>C p.R128= Synonymous 4/5 - 2
3-49399954-CT-TA c.382_383delinsTA p.R128* Nonsense 4/5 - 1
3-49399958-T-C c.379A>G p.T127A Missense 4/5 - 1
3-49399960-T-C c.377A>G p.H126R Missense 4/5 - 1
3-49399964-C-G c.373G>C p.E125Q Missense 4/5 - 11
3-49399968-A-C c.369T>G p.N123K Missense 4/5 - 1
3-49399968-A-T c.369T>A p.N123K Missense 4/5 - 1
3-49399971-C-A c.366G>T p.R122= Synonymous 4/5 - 3
3-49399971-CCG-ACA c.364_366delinsTGT p.R122C Missense 4/5 - 1
3-49399972-C-T c.365G>A p.R122Q Missense 4/5 - 1
3-49399971-C-G c.366G>C p.R122= Synonymous 4/5 - 1
3-49399971-C-T c.366G>A p.R122= Synonymous 4/5 - 1
3-49399973-G-A c.364C>T p.R122W Missense 4/5 - 5
3-49399973-G-C c.364C>G p.R122G Missense 4/5 - 1
3-49399973-G-T c.364C>A p.R122= Synonymous 4/5 - 1
3-49399978-T-C c.359A>G p.D120G Missense 4/5 - 2
3-49399979-C-A c.358G>T p.D120Y Missense 4/5 - 4
3-49399979-C-G c.358G>C p.D120H Missense 4/5 - 1
3-49399979-C-T c.358G>A p.D120N Missense 4/5 - 9
3-49399981-T-A c.356A>T p.K119M Missense 4/5 - 1
3-49399982-T-A c.355A>T p.K119* Nonsense 4/5 - 1
3-49399979-CCTT-C c.355_357del p.K119del InFrameDeletion 4/5 - 1
3-49399983-C-A c.354G>T p.K118N Missense 4/5 - 6
3-49399983-C-G c.354G>C p.K118N Missense 4/5 - 10
3-49399983-C-T c.354G>A p.K118= Synonymous 4/5 - 1
3-49399984-T-C c.353A>G p.K118R Missense 4/5 - 1
3-49399984-T-G c.353A>C p.K118T Missense 4/5 - 1
3-49399985-T-A c.352A>T p.K118* Nonsense 4/5 - 1
3-49399985-T-C c.352A>G p.K118E Missense 4/5 - 7
3-49399985-T-G c.352A>C p.K118Q Missense 4/5 - 2
3-49399986-A-C c.351T>G p.N117K Missense 4/5 - 2
3-49399986-A-T c.351T>A p.N117K Missense 4/5 - 2
3-49399987-T-A c.350A>T p.N117I Missense 4/5 - 5
3-49399987-T-C c.350A>G p.N117S Missense 4/5 - 2
3-49399988-TC-T c.348del p.N117Ifs*15 Frameshift 4/5 - 1
3-49399991-C-G c.346G>C p.G116R Missense 4/5 - 1
3-49399991-C-T c.346G>A p.G116R Missense 4/5 - 1
3-49399993-A-T c.344T>A p.V115D Missense 4/5 - 2
3-49399994-C-A c.343G>T p.V115F Missense 4/5 - 1
3-49399994-C-G c.343G>C p.V115L Missense 4/5 - 1
3-49399998-G-C c.339C>G p.I113M Missense 4/5 - 2
3-49399998-G-GA c.338dup p.L114Pfs*5 Frameshift 4/5 - 1
3-49400000-T-A c.337A>T p.I113F Missense 4/5 - 1
3-49400003-T-G c.334A>C p.I112L Missense 4/5 - 2
3-49400004-G-A c.333C>T p.P111= Synonymous 4/5 - 1
3-49400004-G-C c.333C>G p.P111= Synonymous 4/5 - 1
3-49400004-G-T c.333C>A p.P111= Synonymous 4/5 - 1
3-49400006-G-A c.331C>T p.P111S Missense 4/5 - 4
3-49400006-G-T c.331C>A p.P111T Missense 4/5 - 1
3-49400009-C-T c.328G>A p.V110M Missense 4/5 - 2
3-49400013-G-A c.324C>T p.P108= Synonymous 4/5 - 7
3-49400013-G-C c.324C>G p.P108= Synonymous 4/5 - 2
3-49400013-G-T c.324C>A p.P108= Synonymous 4/5 - 2
3-49400014-G-A c.323C>T p.P108L Missense 4/5 - 3
3-49400015-G-A c.322C>T p.P108S Missense 4/5 - 2
3-49400016-A-T c.321T>A p.C107* Nonsense 4/5 - 1
3-49400019-G-A c.318C>T p.F106= Synonymous 4/5 - 1
3-49400019-G-C c.318C>G p.F106L Missense 4/5 - 11
3-49400019-G-T c.318C>A p.F106L Missense 4/5 - 7
3-49400021-A-C c.316T>G p.F106V Missense 4/5 - 5
3-49400021-A-G c.316T>C p.F106L Missense 4/5 - 7
3-49400021-A-T c.316T>A p.F106I Missense 4/5 - 1
3-49400023-T-C c.314A>G p.H105R Missense 4/5 - 2
3-49400025-C-T c.312G>A p.K104= Synonymous 4/5 - 1
3-49400033-C-T c.304G>A p.E102K Missense 4/5 - 2
3-49400036-G-A c.301C>T p.P101S Missense 4/5 - 3
3-49400036-G-T c.301C>A p.P101T Missense 4/5 - 1
3-49400037-G-A c.300C>T p.T100= Synonymous 4/5 - 1
3-49400039-T-C c.298A>G p.T100A Missense 4/5 - 2
3-49400040-C-A c.297G>T p.W99C Missense 4/5 - 2
3-49400040-C-G c.297G>C p.W99C Missense 4/5 - 1
3-49400040-C-T c.297G>A p.W99* Nonsense 4/5 - 3
3-49400041-C-A c.296G>T p.W99L Missense 4/5 - 1
3-49400042-A-G c.295T>C p.W99R Missense 4/5 - 2
3-49400042-A-T c.295T>A p.W99R Missense 4/5 - 1
3-49400043-C-A c.294G>T p.K98N Missense 4/5 - 1
3-49400045-T-C c.292A>G p.K98E Missense 4/5 - 2
3-49400048-C-T c.289G>A p.E97K Missense 4/5 - 1
3-49400049-T-A c.288A>T p.P96= Synonymous 4/5 - 1
3-49400049-T-C c.288A>G p.P96= Synonymous 4/5 - 1
3-49400049-T-G c.288A>C p.P96= Synonymous 4/5 - 1
3-49400050-G-A c.287C>T p.P96L Missense 4/5 - 1
3-49400050-GG-CC c.286_287inv p.P96G Missense 4/5 - 1
3-49400051-G-A c.286C>T p.P96S Missense 4/5 - 2
3-49400056-T-A c.281A>T p.N94I Missense 4/5 - 1
3-49400057-T-C c.280A>G p.N94D Missense 4/5 - 1
3-49400482-T-C c.278-423A>G - IntronicSNV - 3/4 2
3-49401153-T-C c.278-1094A>G - IntronicSNV - 3/4 1
3-49401262-C-A c.278-1203G>T - IntronicSNV - 3/4 1
3-49401465-C-G c.278-1406G>C - IntronicSNV - 3/4 1
3-49401465-C-T c.278-1406G>A - IntronicSNV - 3/4 1
3-49402137-T-C c.278-2078A>G - IntronicSNV - 3/4 1
3-49402351-T-C c.278-2292A>G - IntronicSNV - 3/4 1
3-49404420-G-GT c.277+1440dup - IntronicInsertion - 3/4 1
3-49405164-A-G c.277+697T>C - IntronicSNV - 3/4 2
3-49405749-G-T c.277+112C>A - IntronicSNV - 3/4 1
3-49405861-C-T c.277G>A p.E93K Missense 3/5 - 1
3-49405863-A-C c.275T>G p.L92* Nonsense 3/5 - 2
3-49405863-A-T c.275T>A p.L92* Nonsense 3/5 - 2
3-49405862-TA-T c.275del p.L92* Frameshift 3/5 - 1
3-49405865-A-T c.273T>A p.S91R Missense 3/5 - 1
3-49405866-CT-GG c.271_272delinsCC p.S91P Missense 3/5 - 1
3-49405870-C-G c.268G>C p.D90H Missense 3/5 - 1
3-49405870-C-T c.268G>A p.D90N Missense 3/5 - 2
3-49405873-G-T c.265C>A p.P89T Missense 3/5 - 1
3-49405875-C-A c.263G>T p.S88I Missense 3/5 - 1
3-49405876-T-C c.262A>G p.S88G Missense 3/5 - 2
3-49405878-T-C c.260A>G p.D87G Missense 3/5 - 1
3-49405879-C-T c.259G>A p.D87N Missense 3/5 - 3
3-49405880-G-A c.258C>T p.I86= Synonymous 3/5 - 2
3-49405880-G-T c.258C>A p.I86= Synonymous 3/5 - 1
3-49405884-G-A c.254C>T p.S85F Missense 3/5 - 8
3-49405887-A-G c.251T>C p.F84S Missense 3/5 - 1
3-49405884-G-GA c.253dup p.S85Ffs*6 Frameshift 3/5 - 3
3-49405889-A-C c.249T>G p.C83W Missense 3/5 - 1
3-49405889-A-T c.249T>A p.C83* Nonsense 3/5 - 1
3-49405890-AC-A c.248del p.C83Ffs*10 Frameshift 3/5 - 1
3-49405890-C-A c.248G>T p.C83F Missense 3/5 - 2
3-49405890-C-T c.248G>A p.C83Y Missense 3/5 - 10
3-49405891-A-C c.247T>G p.C83G Missense 3/5 - 1
3-49405891-A-G c.247T>C p.C83R Missense 3/5 - 1
3-49405891-A-T c.247T>A p.C83S Missense 3/5 - 1
3-49405897-G-A c.241C>T p.L81= Synonymous 3/5 - 1
3-49405898-T-C c.240A>G p.I80M Missense 3/5 - 1
3-49405899-A-G c.239T>C p.I80T Missense 3/5 - 1
3-49405900-T-C c.238A>G p.I80V Missense 3/5 - 1
3-49405902-A-T c.236T>A p.V79D Missense 3/5 - 1
3-49405903-C-T c.235G>A p.V79I Missense 3/5 - 1
3-49405905-T-A c.233A>T p.D78V Missense 3/5 - 1
3-49405905-T-C c.233A>G p.D78G Missense 3/5 - 1
3-49405906-C-T c.232G>A p.D78N Missense 3/5 - 2
3-49405907-G-A c.231C>T p.T77= Synonymous 3/5 - 5
3-49405907-G-C c.231C>G p.T77= Synonymous 3/5 - 2
3-49405907-GG-CC c.230_231inv p.T77R Missense 3/5 - 1
3-49405907-G-T c.231C>A p.T77= Synonymous 3/5 - 2
3-49405909-T-A c.229A>T p.T77S Missense 3/5 - 1
3-49405910-ATC-TTG c.226_228delinsCAA p.D76Q Missense 3/5 - 1
3-49405911-T-A c.227A>T p.D76V Missense 3/5 - 6
3-49405911-T-C c.227A>G p.D76G Missense 3/5 - 2
3-49405912-C-A c.226G>T p.D76Y Missense 3/5 - 3
3-49405912-C-G c.226G>C p.D76H Missense 3/5 - 2
3-49405912-C-T c.226G>A p.D76N Missense 3/5 - 12
3-49405914-G-A c.224C>T p.P75L Missense 3/5 - 2
3-49405914-G-C c.224C>G p.P75R Missense 3/5 - 3
3-49405914-G-T c.224C>A p.P75Q Missense 3/5 - 1
3-49405915-G-A c.223C>T p.P75S Missense 3/5 - 10
3-49405915-G-C c.223C>G p.P75A Missense 3/5 - 1
3-49405915-G-T c.223C>A p.P75T Missense 3/5 - 3
3-49405917-T-C c.221A>G p.Y74C Missense 3/5 - 1
3-49405918-A-C c.220T>G p.Y74D Missense 3/5 - 2
3-49405918-A-G c.220T>C p.Y74H Missense 3/5 - 2
3-49405920-G-A c.218C>T p.S73F Missense 3/5 - 6
3-49405920-G-C c.218C>G p.S73C Missense 3/5 - 1
3-49405920-G-T c.218C>A p.S73Y Missense 3/5 - 1
3-49405921-A-C c.217T>G p.S73A Missense 3/5 - 1
3-49405921-A-G c.217T>C p.S73P Missense 3/5 - 2
3-49405924-G-T c.214C>A p.L72I Missense 3/5 - 1
3-49405926-G-T c.212C>A p.P71H Missense 3/5 - 1
3-49405927-G-A c.211C>T p.P71S Missense 3/5 - 3
3-49405928-C-A c.210G>T p.R70S Missense 3/5 - 5
3-49405928-C-G c.210G>C p.R70S Missense 3/5 - 5
3-49405928-C-T c.210G>A p.R70= Synonymous 3/5 - 1
3-49405929-C-A c.209G>T p.R70M Missense 3/5 - 1
3-49405929-C-G c.209G>C p.R70T Missense 3/5 - 1
3-49405929-C-T c.209G>A p.R70K Missense 3/5 - 3
3-49405932-A-C c.206T>G p.L69R Missense 3/5 - 13
3-49405932-A-G c.206T>C p.L69P Missense 3/5 - 18
3-49405933-G-C c.205C>G p.L69V Missense 3/5 - 5
3-49405933-G-T c.205C>A p.L69M Missense 3/5 - 6
3-49405935-C-A c.203G>T p.R68L Missense 3/5 - 1
3-49405935-C-G c.203G>C p.R68P Missense 3/5 - 1
3-49405935-C-T c.203G>A p.R68H Missense 3/5 - 2
3-49405936-G-A c.202C>T p.R68C Missense 3/5 - 4
3-49405939-C-T c.199G>A p.D67N Missense 3/5 - 1
3-49405940-A-C c.198T>G p.Y66* Nonsense 3/5 - 1
3-49405940-A-G c.198T>C p.Y66= Synonymous 3/5 - 1
3-49405940-A-T c.198T>A p.Y66* Nonsense 3/5 - 1
3-49405942-A-C c.196T>G p.Y66D Missense 3/5 - 4
3-49405942-A-T c.196T>A p.Y66N Missense 3/5 - 9
3-49405944-T-C c.194A>G p.D65G Missense 3/5 - 2
3-49405945-C-A c.193G>T p.D65Y Missense 3/5 - 1
3-49405945-C-G c.193G>C p.D65H Missense 3/5 - 1
3-49405943-ATCT-A c.192_194del p.E64del InFrameDeletion 3/5 - 5
3-49405946-T-A c.192A>T p.E64D Missense 3/5 - 6
3-49405946-T-G c.192A>C p.E64D Missense 3/5 - 7
3-49405947-TC-CT c.190_191delinsAG p.E64R Missense 3/5 - 1
3-49405948-C-A c.190G>T p.E64* Nonsense 3/5 - 1
3-49405948-C-G c.190G>C p.E64Q Missense 3/5 - 3
3-49405948-C-T c.190G>A p.E64K Missense 3/5 - 7
3-49405949-C-A c.189G>T p.Q63H Missense 3/5 - 1
3-49405949-C-G c.189G>C p.Q63H Missense 3/5 - 1
3-49405950-T-A c.188A>T p.Q63L Missense 3/5 - 30
3-49405951-G-A c.187C>T p.Q63* Nonsense 3/5 - 1
3-49405951-G-T c.187C>A p.Q63K Missense 3/5 - 10
3-49405952-CCC-GCT c.184_186delinsAGC p.G62S Missense 3/5 - 1
3-49405953-C-T c.185G>A p.G62E Missense 3/5 - 23
3-49405954-C-G c.184G>C p.G62R Missense 3/5 - 6
3-49405954-C-T c.184G>A p.G62R Missense 3/5 - 7
3-49405955-A-C c.183T>G p.A61= Synonymous 3/5 - 1
3-49405955-A-G c.183T>C p.A61= Synonymous 3/5 - 1
3-49405955-AGC-CCA c.181_183delinsTGG p.A61W Missense 3/5 - 1
3-49405955-AG-CT c.182_183inv p.A61E Missense 3/5 - 3
3-49405955-A-T c.183T>A p.A61= Synonymous 3/5 - 1
3-49405956-G-A c.182C>T p.A61V Missense 3/5 - 11
3-49405956-G-C c.182C>G p.A61G Missense 3/5 - 1
3-49405956-GC-AT c.181_182delinsAT p.A61I Missense 3/5 - 1
3-49405956-GC-TG c.181_182delinsCA p.A61H Missense 3/5 - 1
3-49405956-G-T c.182C>A p.A61D Missense 3/5 - 8
3-49405957-C-A c.181G>T p.A61S Missense 3/5 - 4
3-49405957-C-G c.181G>C p.A61P Missense 3/5 - 1
3-49405959-G-T c.179C>A p.T60K Missense 3/5 - 9
3-49405960-T-C c.178A>G p.T60A Missense 3/5 - 2
3-49405961-G-A c.177C>T p.D59= Synonymous 3/5 - 2
3-49405962-T-A c.176A>T p.D59V Missense 3/5 - 1
3-49405962-T-C c.176A>G p.D59G Missense 3/5 - 10
3-49405963-C-A c.175G>T p.D59Y Missense 3/5 - 8
3-49405963-C-T c.175G>A p.D59N Missense 3/5 - 11
3-49405964-C-A c.174G>T p.W58C Missense 3/5 - 3
3-49405964-C-G c.174G>C p.W58C Missense 3/5 - 1
3-49405965-C-A c.173G>T p.W58L Missense 3/5 - 1
3-49405965-CA-GC c.172_173delinsGC p.W58A Missense 3/5 - 1
3-49405965-C-G c.173G>C p.W58S Missense 3/5 - 1
3-49405966-A-G c.172T>C p.W58R UnclassifiedSNV 3/5 - 3
3-49405966-A-T c.172T>A p.W58R Missense 3/5 - 4
3-49405968-A-C c.170T>G p.L57W Missense 3/5 - 1
3-49405968-A-G c.170T>C p.L57S Missense 3/5 - 1
3-49405969-A-C c.169T>G p.L57V Missense 3/5 - 27
3-49405970-A-C c.168T>G p.A56= Synonymous 3/5 - 1
3-49405971-G-A c.167C>T p.A56V Missense 3/5 - 1
3-49405971-GC-CG c.166_167delinsCG p.A56R Missense 3/5 - 1
3-49405974-AA-GG c.163_164delinsCC p.L55P Missense 3/5 - 2
3-49405974-A-C c.164T>G p.L55W Missense 3/5 - 1
3-49405976-C-A c.162G>T p.E54D Missense 3/5 - 1
3-49405976-C-G c.162G>C p.E54D Missense 3/5 - 1
3-49405976-CTC-GTT c.160_162delinsAAC p.E54N Missense 3/5 - 1
3-49405977-T-G c.161A>C p.E54A Missense 3/5 - 1
3-49405978-C-A c.160G>T p.E54* Nonsense 3/5 - 1
3-49405978-C-T c.160G>A p.E54K Missense 3/5 - 1
3-49405981-C-T c.157G>A p.V53I Missense 3/5 - 1
3-49406080-T-C c.157-99A>G - IntronicSNV - 2/4 9
3-49406095-G-A c.157-114C>T - IntronicSNV - 2/4 5
3-49406140-C-T c.157-159G>A - IntronicSNV - 2/4 1
3-49406708-G-A c.157-727C>T - IntronicSNV - 2/4 7
3-49407229-G-A c.157-1248C>T - IntronicSNV - 2/4 1
3-49407660-G-C c.157-1679C>G - IntronicSNV - 2/4 2
3-49408816-G-A c.157-2835C>T - IntronicSNV - 2/4 1
3-49408816-G-C c.157-2835C>G - IntronicSNV - 2/4 1
3-49408974-A-G c.157-2993T>C - IntronicSNV - 2/4 2
3-49409002-G-C c.157-3021C>G - IntronicSNV - 2/4 1
3-49409513-C-T c.156+3354G>A - IntronicSNV - 2/4 1
3-49409704-G-A c.156+3163C>T - IntronicSNV - 2/4 3
3-49410066-A-C c.156+2801T>G - IntronicSNV - 2/4 1
3-49410066-A-G c.156+2801T>C - IntronicSNV - 2/4 1
3-49411404-T-C c.156+1463A>G - IntronicSNV - 2/4 2
3-49411857-A-C c.156+1010T>G - IntronicSNV - 2/4 1
3-49412015-C-T c.156+852G>A - IntronicSNV - 2/4 1
3-49412496-A-G c.156+371T>C - IntronicSNV - 2/4 1
3-49412559-G-A c.156+308C>T - IntronicSNV - 2/4 3
3-49412693-CAA-C c.156+172_156+173del - IntronicDeletion - 2/4 1
3-49412693-CA-C c.156+173del - IntronicDeletion - 2/4 1
3-49412845-TTGTTATGAAAAGTATACTCACC-T c.156_156+21del - SpliceDonorDeletion 2/5 2/4 1
3-49412850-A-G c.156+17T>C - IntronicSNV - 2/4 1
3-49412866-C-T c.156+1G>A - IntronicSNV - 2/4 1
3-49412867-C-A c.156G>T p.Q52H Missense 2/5 - 1
3-49412867-C-G c.156G>C p.Q52H Missense 2/5 - 1
3-49412868-T-A c.155A>T p.Q52L Missense 2/5 - 1
3-49412869-G-A c.154C>T p.Q52* Nonsense 2/5 - 1
3-49412869-G-C c.154C>G p.Q52E Missense 2/5 - 1
3-49412872-T-G c.151A>C p.K51Q Missense 2/5 - 1
3-49412874-C-T c.149G>A p.G50E Missense 2/5 - 1
3-49412875-C-T c.148G>A p.G50R Missense 2/5 - 1
3-49412878-C-A c.145G>T p.D49Y Missense 2/5 - 2
3-49412878-C-G c.145G>C p.D49H Missense 2/5 - 2
3-49412878-C-T c.145G>A p.D49N Missense 2/5 - 3
3-49412880-A-C c.143T>G p.V48G Missense 2/5 - 1
3-49412882-C-G c.141G>C p.E47D Missense 2/5 - 1
3-49412883-T-C c.140A>G p.E47G Missense 2/5 - 1
3-49412883-TC-AT c.139_140delinsAT p.E47M Missense 2/5 - 1
3-49412884-C-T c.139G>A p.E47K Missense 2/5 - 26
3-49412887-T-C c.136A>G p.I46V Missense 2/5 - 1
3-49412888-A-C c.135T>G p.D45E Missense 2/5 - 1
3-49412888-A-T c.135T>A p.D45E Missense 2/5 - 3
3-49412890-C-G c.133G>C p.D45H Missense 2/5 - 2
3-49412890-C-T c.133G>A p.D45N Missense 2/5 - 2
3-49412891-T-A c.132A>T p.A44= Synonymous 2/5 - 1
3-49412891-T-C c.132A>G p.A44= Synonymous 2/5 - 1
3-49412891-T-G c.132A>C p.A44= Synonymous 2/5 - 1
3-49412892-G-A c.131C>T p.A44V Missense 2/5 - 3
3-49412893-C-T c.130G>A p.A44T Missense 2/5 - 1
3-49412895-A-G c.128T>C p.V43A Missense 2/5 - 3
3-49412896-C-T c.127G>A p.V43M Missense 2/5 - 1
3-49412898-T-A c.125A>T p.Y42F Missense 2/5 - 10
3-49412898-TA-AT c.124_125delinsAT p.Y42I Missense 2/5 - 5
3-49412898-T-C c.125A>G p.Y42C Missense 2/5 - 65
3-49412898-T-G c.125A>C p.Y42S Missense 2/5 - 24
3-49412899-A-G c.124T>C p.Y42H Missense 2/5 - 3
3-49412899-A-T c.124T>A p.Y42N Missense 2/5 - 1
3-49412900-G-C c.123C>G p.N41K Missense 2/5 - 8
3-49412900-G-T c.123C>A p.N41K Missense 2/5 - 6
3-49412901-T-G c.122A>C p.N41T Missense 2/5 - 1
3-49412903-C-A c.120G>T p.E40D Missense 2/5 - 2
3-49412903-C-G c.120G>C p.E40D Missense 2/5 - 2
3-49412903-C-T c.120G>A p.E40= Synonymous 2/5 - 1
3-49412904-T-A c.119A>T p.E40V Missense 2/5 - 3
3-49412904-T-C c.119A>G p.E40G Missense 2/5 - 1
3-49412904-TC-AG c.118_119delinsCT p.E40L Missense 2/5 - 2
3-49412904-TC-CA c.118_119delinsTG p.E40W Missense 2/5 - 2
3-49412904-TC-GT c.118_119delinsAC p.E40T Missense 2/5 - 2
3-49412904-T-G c.119A>C p.E40A Missense 2/5 - 2
3-49412905-C-A c.118G>T p.E40* Nonsense 2/5 - 6
3-49412905-C-G c.118G>C p.E40Q Missense 2/5 - 47
3-49412905-C-T c.118G>A p.E40K Missense 2/5 - 15
3-49412907-A-C c.116T>G p.F39C Missense 2/5 - 10
3-49412907-A-G c.116T>C p.F39S Missense 2/5 - 2
3-49412907-A-T c.116T>A p.F39Y Missense 2/5 - 1
3-49412906-A-C c.117T>G p.F39L Missense 2/5 - 7
3-49412906-A-T c.117T>A p.F39L Missense 2/5 - 6
3-49412908-A-C c.115T>G p.F39V Missense 2/5 - 1
3-49412908-A-G c.115T>C p.F39L Missense 2/5 - 7
3-49412910-A-AG c.112_113insC p.V38Afs*3 Frameshift 2/5 - 1
3-49412910-A-C c.113T>G p.V38G Missense 2/5 - 2
3-49412910-A-T c.113T>A p.V38E Missense 2/5 - 1
3-49412911-C-A c.112G>T p.V38L Missense 2/5 - 1
3-49412912-T-C c.111A>G p.T37= Synonymous 2/5 - 2
3-49412912-TG-CA c.110_111inv p.T37M Missense 2/5 - 3
3-49412912-TGT-ATA c.109_111delinsTAT p.T37Y Missense 2/5 - 2
3-49412913-G-A c.110C>T p.T37I Missense 2/5 - 6
3-49412914-T-A c.109A>T p.T37S Missense 2/5 - 3
3-49412914-T-C c.109A>G p.T37A Missense 2/5 - 4
3-49412915-G-A c.108C>T p.P36= Synonymous 2/5 - 2
3-49412916-G-A c.107C>T p.P36L Missense 2/5 - 3
3-49412917-G-A c.106C>T p.P36S Missense 2/5 - 2
3-49412918-CAC-GAT c.103_105delinsATC p.V35I Missense 2/5 - 1
3-49412919-A-C c.104T>G p.V35G Missense 2/5 - 1
3-49412921-A-C c.102T>G p.Y34* Nonsense 2/5 - 1
3-49412921-A-T c.102T>A p.Y34* Nonsense 2/5 - 1
3-49412922-T-A c.101A>T p.Y34F Missense 2/5 - 7
3-49412922-T-C c.101A>G p.Y34C Missense 2/5 - 26
3-49412922-T-G c.101A>C p.Y34S Missense 2/5 - 1
3-49412923-A-C c.100T>G p.Y34D Missense 2/5 - 6
3-49412923-A-T c.100T>A p.Y34N Missense 2/5 - 1
3-49412925-A-G c.98T>C p.V33A Missense 2/5 - 1
3-49412926-C-A c.97G>T p.V33L Missense 2/5 - 1
3-49412926-C-G c.97G>C p.V33L Missense 2/5 - 1
3-49412926-C-T c.97G>A p.V33M Missense 2/5 - 2
3-49412927-C-A c.96G>T p.E32D Missense 2/5 - 1
3-49412927-C-G c.96G>C p.E32D Missense 2/5 - 1
3-49412927-C-T c.96G>A p.E32= Synonymous 2/5 - 1
3-49412929-C-G c.94G>C p.E32Q Missense 2/5 - 1
3-49412929-C-T c.94G>A p.E32K Missense 2/5 - 3
3-49412931-G-T c.92C>A p.P31Q Missense 2/5 - 1
3-49412932-G-A c.91C>T p.P31S Missense 2/5 - 1
3-49412932-G-T c.91C>A p.P31T Missense 2/5 - 1
3-49412934-A-G c.89T>C p.F30S Missense 2/5 - 1
3-49412933-G-C c.90C>G p.F30L Missense 2/5 - 1
3-49412933-G-T c.90C>A p.F30L Missense 2/5 - 1
3-49412935-A-C c.88T>G p.F30V Missense 2/5 - 1
3-49412935-A-G c.88T>C p.F30L Missense 2/5 - 1
3-49412935-A-T c.88T>A p.F30I Missense 2/5 - 1
3-49412938-G-A c.85C>T p.Q29* Nonsense 2/5 - 1
3-49412938-G-C c.85C>G p.Q29E Missense 2/5 - 1
3-49412939-G-A c.84C>T p.D28= Synonymous 2/5 - 1
3-49412939-GTC-CTT c.82_84delinsAAG p.D28K Missense 2/5 - 1
3-49412941-C-A c.82G>T p.D28Y Missense 2/5 - 3
3-49412941-C-T c.82G>A p.D28N Missense 2/5 - 4
3-49412942-C-A c.81G>T p.K27N Missense 2/5 - 1
3-49412942-C-G c.81G>C p.K27N Missense 2/5 - 1
3-49412943-T-A c.80A>T p.K27M Missense 2/5 - 2
3-49412943-T-G c.80A>C p.K27T Missense 2/5 - 1
3-49412944-T-C c.79A>G p.K27E Missense 2/5 - 1
3-49412945-G-A c.78C>T p.S26= Synonymous 2/5 - 1
3-49412945-G-C c.78C>G p.S26R Missense 2/5 - 8
3-49412945-G-T c.78C>A p.S26R Missense 2/5 - 7
3-49412946-C-A c.77G>T p.S26I Missense 2/5 - 3
3-49412946-C-G c.77G>C p.S26T Missense 2/5 - 1
3-49412946-C-T c.77G>A p.S26N Missense 2/5 - 6
3-49412947-T-C c.76A>G p.S26G Missense 2/5 - 2
3-49412947-T-G c.76A>C p.S26R Missense 2/5 - 8
3-49412948-G-A c.75C>T p.F25= Synonymous 2/5 - 1
3-49412949-A-T c.74T>A p.F25Y Missense 2/5 - 1
3-49412948-G-C c.75C>G p.F25L Missense 2/5 - 1
3-49412948-G-T c.75C>A p.F25L Missense 2/5 - 1
3-49412950-A-C c.73T>G p.F25V Missense 2/5 - 1
3-49412950-A-G c.73T>C p.F25L Missense 2/5 - 1
3-49412950-A-T c.73T>A p.F25I Missense 2/5 - 1
3-49412951-G-A c.72C>T p.V24= Synonymous 2/5 - 1
3-49412951-GA-CT c.71_72delinsAG p.V24E Missense 2/5 - 1
3-49412951-G-C c.72C>G p.V24= Synonymous 2/5 - 1
3-49412951-G-T c.72C>A p.V24= Synonymous 2/5 - 1
3-49412953-C-A c.70G>T p.V24F Missense 2/5 - 4
3-49412953-C-G c.70G>C p.V24L Missense 2/5 - 1
3-49412955-A-C c.68T>G p.I23R Missense 2/5 - 5
3-49412955-A-G c.68T>C p.I23T Missense 2/5 - 1
3-49412956-T-A c.67A>T p.I23L Missense 2/5 - 1
3-49412956-T-G c.67A>C p.I23L Missense 2/5 - 1
3-49412957-G-A c.66C>T p.L22= Synonymous 2/5 - 1
3-49412957-G-C c.66C>G p.L22= Synonymous 2/5 - 1
3-49412957-G-T c.66C>A p.L22= Synonymous 2/5 - 1
3-49412958-A-C c.65T>G p.L22R Missense 2/5 - 11
3-49412958-A-G c.65T>C p.L22P Missense 2/5 - 7
3-49412958-A-T c.65T>A p.L22H Missense 2/5 - 2
3-49412959-G-T c.64C>A p.L22I Missense 2/5 - 3
3-49412961-AA-GC c.61_62delinsGC p.L21A Missense 2/5 - 1
3-49412962-A-C c.61T>G p.L21V Missense 2/5 - 1
3-49412963-G-C c.60C>G p.C20W Missense 2/5 - 3
3-49412963-GCA-CTC c.58_60delinsGAG p.C20E Missense 2/5 - 1
3-49412964-C-A c.59G>T p.C20F Missense 2/5 - 1
3-49412964-C-G c.59G>C p.C20S Missense 2/5 - 1
3-49412965-A-C c.58T>G p.C20G Missense 2/5 - 6
3-49412965-A-G c.58T>C p.C20R Missense 2/5 - 2
3-49412966-TG-GT c.56_57delinsAC p.T19N Missense 2/5 - 19
3-49412967-G-A c.56C>T p.T19I Missense 2/5 - 11
3-49412967-G-T c.56C>A p.T19K Missense 2/5 - 2
3-49412968-T-A c.55A>T p.T19S Missense 2/5 - 2
3-49412969-C-A c.54G>T p.K18N Missense 2/5 - 10
3-49412969-C-G c.54G>C p.K18N Missense 2/5 - 9
3-49412969-C-T c.54G>A p.K18= Synonymous 2/5 - 1
3-49412971-T-G c.52A>C p.K18Q Missense 2/5 - 1
3-49412972-T-A c.51A>T p.G17= Synonymous 2/5 - 1
3-49412972-TTCC-T c.49_51del p.G17del InFrameDeletion 2/5 - 2
3-49412972-TTC-T c.50_51del p.G17Efs*23 Frameshift 2/5 - 1
3-49412973-C-A c.50G>T p.G17V Missense 2/5 - 191
3-49412973-CC-AG c.49_50delinsCT p.G17L Missense 2/5 - 4
3-49412973-C-G c.50G>C p.G17A Missense 2/5 - 27
3-49412973-C-T c.50G>A p.G17E Missense 2/5 - 60
3-49412974-C-A c.49G>T p.G17* Nonsense 2/5 - 4
3-49412974-C-G c.49G>C p.G17R Missense 2/5 - 2
3-49412974-C-T c.49G>A p.G17R Missense 2/5 - 3
3-49412975-A-C c.48T>G p.C16W Missense 2/5 - 1
3-49412975-A-G c.48T>C p.C16= Synonymous 2/5 - 1
3-49412975-A-T c.48T>A p.C16* Nonsense 2/5 - 1
3-49412976-C-A c.47G>T p.C16F Missense 2/5 - 6
3-49412976-CA-AG c.46_47delinsCT p.C16L Missense 2/5 - 4
3-49412976-C-T c.47G>A p.C16Y Missense 2/5 - 1
3-49412976-C-G c.47G>C p.C16S Missense 2/5 - 1
3-49412977-A-C c.46T>G p.C16G Missense 2/5 - 1
3-49412977-A-G c.46T>C p.C16R Missense 2/5 - 21
3-49412977-A-T c.46T>A p.C16S Missense 2/5 - 2
3-49412978-G-A c.45C>T p.A15= Synonymous 2/5 - 2
3-49412978-G-C c.45C>G p.A15= Synonymous 2/5 - 1
3-49412978-G-T c.45C>A p.A15= Synonymous 2/5 - 1
3-49412979-G-A c.44C>T p.A15V Missense 2/5 - 1
3-49412979-G-C c.44C>G p.A15G Missense 2/5 - 2
3-49412980-C-G c.43G>C p.A15P Missense 2/5 - 1
3-49412982-C-A c.41G>T p.G14V Missense 2/5 - 18
3-49412982-C-G c.41G>C p.G14A Missense 2/5 - 1
3-49412983-C-A c.40G>T p.G14* Nonsense 2/5 - 1
3-49412983-C-G c.40G>C p.G14R Missense 2/5 - 1
3-49412983-C-T c.40G>A p.G14R Missense 2/5 - 1
3-49412986-C-A c.37G>T p.D13Y Missense 2/5 - 1
3-49412986-C-G c.37G>C p.D13H Missense 2/5 - 1
3-49412986-C-T c.37G>A p.D13N Missense 2/5 - 1
3-49412987-AC-CT c.35_36delinsAG p.G12E Missense 2/5 - 1
3-49412987-CACCAACAATCACCAGTTTCTTCCGGATGGCAGCCAT-C c.1_36del p.MAAIRKKLVIVG1_?12 InFrameDeletion 2/5 - 1
3-49412988-C-A c.35G>T p.G12V Missense 2/5 - 5
3-49412988-C-T c.35G>A p.G12D Missense 2/5 - 9
3-49412989-C-A c.34G>T p.G12C Missense 2/5 - 1
3-49412991-A-G c.32T>C p.V11A Missense 2/5 - 1
3-49412992-C-T c.31G>A p.V11I Missense 2/5 - 1
3-49412996-C-T c.27G>A p.V9= Synonymous 2/5 - 1
3-49412998-C-T c.25G>A p.V9M Missense 2/5 - 1
3-49413004-T-A c.19A>T p.K7* Nonsense 2/5 - 1
3-49413009-C-A c.14G>T p.R5L Missense 2/5 - 3
3-49413009-C-T c.14G>A p.R5Q Missense 2/5 - 43
3-49413010-G-A c.13C>T p.R5W Missense 2/5 - 39
3-49413010-G-T c.13C>A p.R5= Synonymous 2/5 - 1
3-49413014-TGGC-T c.7_9del p.A3del InFrameDeletion 2/5 - 1
3-49413015-G-A c.8C>T p.A3V Missense 2/5 - 1
3-49413018-G-A c.5C>T p.A2V Missense 2/5 - 1
3-49413019-C-T c.4G>A p.A2T Missense 2/5 - 2
3-49413022-T-C c.1A>G p.M1? Missense 2/5 - 1
3-49413266-G-T c.-2-242C>A - IntronicSNV - 1/4 1
3-49414062-T-A c.-2-1038A>T - IntronicSNV - 1/4 1
3-49414062-T-C c.-2-1038A>G - IntronicSNV - 1/4 1
3-49414062-T-G c.-2-1038A>C - IntronicSNV - 1/4 1
3-49414791-C-T c.-2-1767G>A - IntronicSNV - 1/4 4
3-49415179-C-A c.-2-2155G>T - IntronicSNV - 1/4 1
3-49415301-G-A c.-2-2277C>T - IntronicSNV - 1/4 1
3-49416825-G-A c.-2-3801C>T - IntronicSNV - 1/4 2
3-49417243-C-A c.-2-4219G>T - IntronicSNV - 1/4 2
3-49417896-A-T c.-2-4872T>A - IntronicSNV - 1/4 1
3-49418168-A-C c.-2-5144T>G - IntronicSNV - 1/4 2
3-49422687-T-A c.-2-9663A>T - IntronicSNV - 1/4 1
3-49422687-T-C c.-2-9663A>G - IntronicSNV - 1/4 1
3-49423274-A-G c.-2-10250T>C - IntronicSNV - 1/4 2
3-49423976-A-G c.-2-10952T>C - IntronicSNV - 1/4 3
3-49424283-C-T c.-2-11259G>A - IntronicSNV - 1/4 2
3-49425004-G-A c.-2-11980C>T - IntronicSNV - 1/4 1
3-49425167-A-G c.-2-12143T>C - IntronicSNV - 1/4 1
3-49425167-A-T c.-2-12143T>A - IntronicSNV - 1/4 1
3-49425707-T-C c.-2-12683A>G - IntronicSNV - 1/4 1
3-49425707-T-G c.-2-12683A>C - IntronicSNV - 1/4 1
3-49427319-G-A c.-2-14295C>T - IntronicSNV - 1/4 2
3-49427319-G-C c.-2-14295C>G - IntronicSNV - 1/4 2
3-49427933-G-A c.-2-14909C>T - IntronicSNV - 1/4 1
3-49427933-G-C c.-2-14909C>G - IntronicSNV - 1/4 1
3-49427933-G-T c.-2-14909C>A - IntronicSNV - 1/4 1
3-49429039-C-T c.-2-16015G>A - IntronicSNV - 1/4 1
3-49430883-G-A c.-2-17859C>T - IntronicSNV - 1/4 1
3-49431160-T-A c.-3+18093A>T - intron_variant - 1/4 1
3-49431160-T-G c.-3+18093A>C - intron_variant - 1/4 1
3-49431162-T-A c.-3+18091A>T - intron_variant - 1/4 1
3-49431162-T-G c.-3+18091A>C - intron_variant - 1/4 1
3-49431647-C-G c.-3+17606G>C - intron_variant - 1/4 3
3-49431853-G-A c.-3+17400C>T - intron_variant - 1/4 2
3-49431903-C-T c.-3+17350G>A - intron_variant - 1/4 3
3-49432321-C-T c.-3+16932G>A - intron_variant - 1/4 1
3-49432404-C-T c.-3+16849G>A - intron_variant - 1/4 2
3-49433133-G-A c.-3+16120C>T - intron_variant - 1/4 1
3-49434654-G-A c.-3+14599C>T - intron_variant - 1/4 3
3-49435243-G-C c.-3+14010C>G - intron_variant - 1/4 1
3-49436584-C-T c.-3+12669G>A - intron_variant - 1/4 1
3-49437569-C-G c.-3+11684G>C - intron_variant - 1/4 1
3-49437569-C-T c.-3+11684G>A - intron_variant - 1/4 1
3-49437600-G-A c.-3+11653C>T - intron_variant - 1/4 1
3-49437600-G-C c.-3+11653C>G - intron_variant - 1/4 1
3-49438036-C-G c.-3+11217G>C - intron_variant - 1/4 1
3-49438158-G-A c.-3+11095C>T - intron_variant - 1/4 1
3-49438221-G-A c.-3+11032C>T - intron_variant - 1/4 2
3-49438221-G-C c.-3+11032C>G - intron_variant - 1/4 2
3-49438803-C-T c.-3+10450G>A - intron_variant - 1/4 1
3-49439440-A-G c.-3+9813T>C - intron_variant - 1/4 2
3-49439725-A-T c.-3+9528T>A - intron_variant - 1/4 3
3-49439924-T-C c.-3+9329A>G - intron_variant - 1/4 2
3-49440568-G-A c.-3+8685C>T - intron_variant - 1/4 1
3-49441091-G-A c.-3+8162C>T - intron_variant - 1/4 4
3-49441847-A-G c.-3+7406T>C - intron_variant - 1/4 1
3-49441847-A-T c.-3+7406T>A - intron_variant - 1/4 1
3-49442020-A-G c.-3+7233T>C - intron_variant - 1/4 1
3-49442548-G-A c.-3+6705C>T - intron_variant - 1/4 1
3-49443081-T-A c.-3+6172A>T - intron_variant - 1/4 2
3-49443081-T-C c.-3+6172A>G - intron_variant - 1/4 2
3-49443372-C-A c.-3+5881G>T - intron_variant - 1/4 1
3-49444904-T-C c.-3+4349A>G - intron_variant - 1/4 2
3-49444904-T-G c.-3+4349A>C - intron_variant - 1/4 2
3-49445695-G-A c.-3+3558C>T - intron_variant - 1/4 1
3-49445695-G-T c.-3+3558C>A - intron_variant - 1/4 1
3-49448423-G-A c.-3+830C>T - intron_variant - 1/4 1
3-49448527-T-C c.-3+726A>G - intron_variant - 1/4 1
3-49448566-A-C c.-3+687T>G - intron_variant - 1/4 13
3-49448566-A-T c.-3+687T>A - intron_variant - 1/4 13
3-49449116-G-A c.-3+137C>T - intron_variant - 1/4 1