GLE1

GLE1 GLE1 RNA export mediator

Annotation transcript: NM_001003722.2

647 unique variant annotations were identified in 375 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
9-131267004-C-A c.-81C>A - 5-UTRSNV 1/16 - 1
9-131267004-C-G c.-81C>G - 5-UTRSNV 1/16 - 1
9-131267004-C-T c.-81C>T - 5-UTRSNV 1/16 - 1
9-131267089-C-A c.5C>A p.P2Q Missense 1/16 - 1
9-131267089-C-G c.5C>G p.P2R Missense 1/16 - 7
9-131267089-C-T c.5C>T p.P2L Missense 1/16 - 1
9-131267101-G-C c.17G>C p.R6P Missense 1/16 - 1
9-131267101-G-T c.17G>T p.R6L Missense 1/16 - 1
9-131267111-G-A c.27G>A p.E9= Synonymous 1/16 - 1
9-131267112-A-C c.28A>C p.T10P Missense 1/16 - 1
9-131267113-C-A c.29C>A p.T10N Missense 1/16 - 1
9-131267115-T-G c.31T>G p.L11V Missense 1/16 - 1
9-131267115-TT-CC c.31_32delinsCC p.L11P Missense 1/16 - 1
9-131267118-A-C c.34A>C p.K12Q Missense 1/16 - 1
9-131267129-C-A c.45C>A p.R15= Synonymous 1/16 - 2
9-131267129-C-G c.45C>G p.R15= Synonymous 1/16 - 2
9-131267129-C-T c.45C>T p.R15= Synonymous 1/16 - 3
9-131267142-G-T c.58G>T p.G20C Missense 1/16 - 1
9-131267145-C-T c.61C>T p.R21C Missense 1/16 - 1
9-131267151-T-A c.67T>A p.C23S Missense 1/16 - 1
9-131267152-G-C c.68G>C p.C23S Missense 1/16 - 2
9-131267153-C-T c.69C>T p.C23= Synonymous 1/16 - 3
9-131267155-A-G c.71A>G p.Y24C Missense 1/16 - 1
9-131267159-C-A c.75C>A p.Y25* Nonsense 1/16 - 1
9-131267165-C-G c.81C>G p.D27E Missense 1/16 - 2
9-131267166-T-C c.82T>C p.W28R Missense 1/16 - 1
9-131267170-T-C c.86T>C p.L29P Missense 1/16 - 1
9-131267176-G-A c.92G>A p.R31Q Missense 1/16 - 1
9-131267176-G-C c.92G>C p.R31P Missense 1/16 - 1
9-131267181-G-C c.97G>C p.E33Q Missense 1/16 - 1
9-131267187-A-G c.99+4A>G - IntronicSNV - 1/15 1
9-131267212-C-G c.99+29C>G - IntronicSNV - 1/15 2
9-131271156-A-C c.101A>C p.D34A Missense 2/16 - 1
9-131271156-GATGTTTTAGAAGAATGTATGTCTCTTCCCAAGCTATCTTCTTATTCTGGATGGGTGGTA-G c.101_159del p.D34Gfs*15 InFrameDeletion 2/16 - 1
9-131271158-G-T c.103G>T p.V35F Missense 2/16 - 1
9-131271159-T-G c.104T>G p.V35G Missense 2/16 - 1
9-131271161-TT-GC c.106_107delinsGC p.L36A Missense 2/16 - 1
9-131271167-G-C c.112G>C p.E38Q Missense 2/16 - 1
9-131271170-TG-GC c.115_116delinsGC p.C39A Missense 2/16 - 1
9-131271171-G-A c.116G>A p.C39Y Missense 2/16 - 5
9-131271173-ATG-A c.120_121del p.M40Ifs*28 Frameshift 2/16 - 1
9-131271182-C-T c.127C>T p.P43S Missense 2/16 - 1
9-131271183-C-G c.128C>G p.P43R Missense 2/16 - 1
9-131271189-T-C c.134T>C p.L45P Missense 2/16 - 1
9-131271192-C-T c.137C>T p.S46F Missense 2/16 - 3
9-131271197-T-C c.142T>C p.Y48H Missense 2/16 - 1
9-131271198-A-C c.143A>C p.Y48S Missense 2/16 - 1
9-131271199-T-C c.144T>C p.Y48= Synonymous 2/16 - 1
9-131271200-T-G c.145T>G p.S49A Missense 2/16 - 2
9-131271204-G-A c.149G>A p.G50E Missense 2/16 - 6
9-131271204-G-C c.149G>C p.G50A Missense 2/16 - 5
9-131271206-T-G c.151T>G p.W51G Missense 2/16 - 1
9-131271207-G-A c.152G>A p.W51* Nonsense 2/16 - 1
9-131271215-G-T c.160G>T p.E54* Nonsense 2/16 - 1
9-131271219-A-G c.164A>G p.H55R Missense 2/16 - 4
9-131271220-C-T c.165C>T p.H55= Synonymous 2/16 - 2
9-131271227-C-T c.172C>T p.P58S Missense 2/16 - 1
9-131271228-C-A c.173C>A p.P58H Missense 2/16 - 1
9-131271228-C-T c.173C>T p.P58L Missense 2/16 - 3
9-131271239-G-A c.184G>A p.E62K Missense 2/16 - 3
9-131271241-G-C c.186G>C p.E62D Missense 2/16 - 2
9-131271241-G-T c.186G>T p.E62D Missense 2/16 - 2
9-131271243-A-G c.188A>G p.N63S Missense 2/16 - 1
9-131271249-C-A c.194C>A p.P65H Missense 2/16 - 1
9-131271249-C-T c.194C>T p.P65L Missense 2/16 - 2
9-131271254-T-C c.199T>C p.S67P Missense 2/16 - 1
9-131271264-C-A c.209C>A p.S70* Nonsense 2/16 - 4
9-131271264-C-T c.209C>T p.S70L Missense 2/16 - 4
9-131271267-C-T c.212C>T p.P71L Missense 2/16 - 1
9-131271273-C-G c.218C>G p.S73C Missense 2/16 - 2
9-131271276-C-T c.221C>T p.T74M Missense 2/16 - 3
9-131271277-G-A c.222G>A p.T74= Synonymous 2/16 - 1
9-131271277-G-T c.222G>T p.T74= Synonymous 2/16 - 1
9-131271278-TC-GG c.223_224delinsGG p.S75G Missense 2/16 - 1
9-131271281-G-A c.226G>A p.A76T Missense 2/16 - 1
9-131271285-C-A c.230C>A p.S77* Nonsense 2/16 - 1
9-131271285-C-G c.230C>G p.S77* Nonsense 2/16 - 1
9-131271287-G-A c.232G>A p.A78T Missense 2/16 - 1
9-131271288-C-G c.233C>G p.A78G Missense 2/16 - 1
9-131271290-C-G c.235C>G p.L79V Missense 2/16 - 2
9-131271296-C-T c.241C>T p.Q81* Nonsense 2/16 - 2
9-131271296-CA-C c.243del p.Q81Hfs*61 Frameshift 2/16 - 1
9-131271299-C-T c.244C>T p.P82S Missense 2/16 - 1
9-131271302-T-A c.247T>A p.S83T Missense 2/16 - 1
9-131271303-C-T c.248C>T p.S83L Missense 2/16 - 2
9-131271306-T-C c.251T>C p.F84S Missense 2/16 - 1
9-131271315-A-G c.260A>G p.K87R Missense 2/16 - 1
9-131271318-C-T c.263C>T p.S88F Missense 2/16 - 2
9-131271319-T-A c.264T>A p.S88= Synonymous 2/16 - 2
9-131271319-T-C c.264T>C p.S88= Synonymous 2/16 - 2
9-131271319-T-G c.264T>G p.S88= Synonymous 2/16 - 2
9-131271320-C-T c.265C>T p.P89S Missense 2/16 - 1
9-131271324-A-C c.269A>C p.D90A Missense 2/16 - 2
9-131271326-GC-AA c.271_272delinsAA p.A91K Missense 2/16 - 1
9-131271326-G-T c.271G>T p.A91S Missense 2/16 - 1
9-131271330-G-A c.275G>A p.S92N Missense 2/16 - 1
9-131271342-C-T c.287C>T p.S96F Missense 2/16 - 5
9-131271345-C-T c.290C>T p.P97L Missense 2/16 - 1
9-131271348-C-T c.293C>T p.A98V Missense 2/16 - 1
9-131271350-T-C c.295T>C p.S99P Missense 2/16 - 1
9-131271353-C-T c.298C>T p.P100S Missense 2/16 - 1
9-131271361-A-C c.306A>C p.T102= Synonymous 2/16 - 1
9-131271361-A-G c.306A>G p.T102= Synonymous 2/16 - 1
9-131271361-A-T c.306A>T p.T102= Synonymous 2/16 - 1
9-131271363-C-T c.308C>T p.P103L Missense 2/16 - 1
9-131271367-T-A c.312T>A p.N104K Missense 2/16 - 1
9-131271367-T-G c.312T>G p.N104K Missense 2/16 - 1
9-131271368-G-T c.313G>T p.G105* Nonsense 2/16 - 3
9-131271372-C-T c.317C>T p.T106I Missense 2/16 - 1
9-131271374-CAAG-C c.319_321del p.K107del InFrameDeletion 2/16 - 2
9-131271376-G-C c.321G>C p.K107N Missense 2/16 - 1
9-131271376-G-T c.321G>T p.K107N Missense 2/16 - 1
9-131272925-CA-C c.321+1549del - IntronicDeletion - 2/15 1
9-131272926-G-T c.321+1550G>T - IntronicSNV - 2/15 1
9-131277818-A-T c.332A>T p.E111V Missense 3/16 - 1
9-131277820-TC-GG c.334_335delinsGG p.S112G Missense 3/16 - 1
9-131277836-C-A c.350C>A p.S117Y Missense 3/16 - 1
9-131277839-T-C c.353T>C p.M118T Missense 3/16 - 1
9-131277847-C-T c.361C>T p.Q121* Nonsense 3/16 - 6
9-131277856-C-T c.370C>T p.R124W Missense 3/16 - 2
9-131277862-GA-G c.376del p.I126Sfs*16 Frameshift 3/16 - 1
9-131277865-A-G c.379A>G p.K127E Missense 3/16 - 2
9-131277866-A-G c.380A>G p.K127R Missense 3/16 - 1
9-131277875-G-A c.389G>A p.G130D Missense 3/16 - 2
9-131277875-G-C c.389G>C p.G130A Missense 3/16 - 2
9-131277880-G-C c.394G>C p.V132L Missense 3/16 - 2
9-131277880-G-T c.394G>T p.V132F Missense 3/16 - 1
9-131277884-G-A c.398G>A p.R133Q Missense 3/16 - 3
9-131277886-A-G c.400A>G p.M134V Missense 3/16 - 1
9-131277891-C-A c.405C>A p.Y135* Nonsense 3/16 - 1
9-131277892-G-A c.406G>A p.E136K Missense 3/16 - 6
9-131277896-T-C c.410T>C p.L137P Missense 3/16 - 1
9-131277900-A-C c.414A>C p.V138= Synonymous 3/16 - 1
9-131277900-A-G c.414A>G p.V138= Synonymous 3/16 - 1
9-131277900-A-T c.414A>T p.V138= Synonymous 3/16 - 1
9-131277911-A-C c.425A>C p.K142T Missense 3/16 - 1
9-131277911-A-G c.425A>G p.K142R Missense 3/16 - 1
9-131277912-A-T c.426A>T p.K142N Missense 3/16 - 1
9-131277914-G-A c.428G>A p.G143E Missense 3/16 - 1
9-131277918-A-AACCTTTTCAG c.432_432+1insACCTTTTCAG p.E145Tfs*26 SpliceDonorInsertion - - 1
9-131277918-A-C c.432A>C p.T144= Synonymous 3/16 - 1
9-131277918-A-G c.432A>G p.T144= Synonymous 3/16 - 1
9-131277918-A-T c.432A>T p.T144= Synonymous 3/16 - 1
9-131277922-A-C c.432+4A>C - IntronicSNV - 3/15 1
9-131278039-G-A c.432+121G>A - IntronicSNV - 3/15 1
9-131279013-TCC-T c.432+1095_432+1096del - IntronicDeletion - 3/15 1
9-131279621-G-A c.432+1703G>A - IntronicSNV - 3/15 1
9-131279725-G-A c.432+1807G>A - IntronicSNV - 3/15 1
9-131281688-G-A c.433-3259G>A - IntronicSNV - 3/15 1
9-131281964-C-T c.433-2983C>T - IntronicSNV - 3/15 1
9-131281993-G-A c.433-2954G>A - IntronicSNV - 3/15 2
9-131281993-G-C c.433-2954G>C - IntronicSNV - 3/15 2
9-131284953-C-T c.439C>T p.L147= Synonymous 4/16 - 2
9-131284954-T-G c.440T>G p.L147R Missense 4/16 - 1
9-131284955-G-A c.441G>A p.L147= Synonymous 4/16 - 1
9-131284965-C-T c.451C>T p.Q151* Nonsense 4/16 - 1
9-131284968-G-A c.454G>A p.E152K Missense 4/16 - 2
9-131284969-A-G c.455A>G p.E152G Missense 4/16 - 3
9-131284972-A-G c.458A>G p.E153G Missense 4/16 - 1
9-131284975-A-G c.461A>G p.Q154R Missense 4/16 - 2
9-131284976-GGAGA-G c.464_467del p.E155Gfs*14 Frameshift 4/16 - 1
9-131284980-A-T c.466A>T p.R156W Missense 4/16 - 1
9-131284982-G-A c.468G>A p.R156= Synonymous 4/16 - 1
9-131284987-T-G c.473T>G p.V158G Missense 4/16 - 2
9-131284995-C-G c.481C>G p.L161V Missense 4/16 - 1
9-131284996-T-C c.482T>C p.L161P Missense 4/16 - 1
9-131284999-C-G c.485C>G p.S162W Missense 4/16 - 1
9-131284999-C-T c.485C>T p.S162L Missense 4/16 - 3
9-131285001-G-C c.487G>C p.E163Q Missense 4/16 - 3
9-131285007-G-A c.493G>A p.A165T Missense 4/16 - 2
9-131285011-C-T c.497C>T p.S166F Missense 4/16 - 2
9-131285014-A-C c.500A>C p.E167A Missense 4/16 - 2
9-131285023-A-C c.509A>C p.K170T Missense 4/16 - 1
9-131285023-A-G c.509A>G p.K170R Missense 4/16 - 1
9-131285025-C-A c.511C>A p.R171= Synonymous 4/16 - 3
9-131285025-CGG-TGT c.511_513delinsTGT p.R171C Missense 4/16 - 1
9-131285025-C-T c.511C>T p.R171W Missense 4/16 - 2
9-131285027-G-A c.513G>A p.R171= Synonymous 4/16 - 3
9-131285027-G-C c.513G>C p.R171= Synonymous 4/16 - 3
9-131285027-G-T c.513G>T p.R171= Synonymous 4/16 - 3
9-131285028-T-A c.514T>A p.F172I Missense 4/16 - 1
9-131285034-G-A c.520G>A p.E174K Missense 4/16 - 1
9-131285036-A-G c.522A>G p.E174= Synonymous 4/16 - 1
9-131285037-T-A c.523T>A p.W175R Missense 4/16 - 1
9-131285037-T-C c.523T>C p.W175R Missense 4/16 - 1
9-131285043-G-C c.529G>C p.E177Q Missense 4/16 - 2
9-131285046-C-T c.532C>T p.L178= Synonymous 4/16 - 1
9-131285048-G-A c.534G>A p.L178= Synonymous 4/16 - 1
9-131285048-G-C c.534G>C p.L178= Synonymous 4/16 - 1
9-131285048-G-T c.534G>T p.L178= Synonymous 4/16 - 1
9-131285049-A-G c.535A>G p.K179E Missense 4/16 - 1
9-131285058-A-G c.544A>G p.K182E Missense 4/16 - 3
9-131285061-G-T c.547G>T p.E183* Nonsense 4/16 - 1
9-131285070-G-T c.556G>T p.D186Y Missense 4/16 - 1
9-131285071-A-T c.557A>T p.D186V Missense 4/16 - 2
9-131285073-T-A c.559T>A p.L187M Missense 4/16 - 1
9-131285076-C-G c.562C>G p.R188G Missense 4/16 - 1
9-131285076-C-T c.562C>T p.R188W Missense 4/16 - 3
9-131285077-G-A c.563G>A p.R188Q Missense 4/16 - 2
9-131285079-GA-AT c.565_566delinsAT p.E189I Missense 4/16 - 1
9-131285089-A-G c.575A>G p.E192G Missense 4/16 - 4
9-131285092-A-G c.578A>G p.K193R Missense 4/16 - 1
9-131285093-G-T c.579G>T p.K193N Missense 4/16 - 1
9-131285095-G-A c.581G>A p.S194N Missense 4/16 - 1
9-131285564-G-A c.587G>A p.R196K Missense 5/16 - 2
9-131285570-C-T c.593C>T p.A198V Missense 5/16 - 1
9-131285573-T-C c.596T>C p.L199S Missense 5/16 - 1
9-131285574-G-A c.597G>A p.L199= Synonymous 5/16 - 1
9-131285584-G-A c.607G>A p.E203K Missense 5/16 - 3
9-131285585-A-G c.608A>G p.E203G Missense 5/16 - 1
9-131285594-AAAGCTGAG-A c.617_624del p.K206Tfs*58 Frameshift 5/16 - 2
9-131285597-C-G c.620C>G p.A207G Missense 5/16 - 1
9-131285599-G-C c.622G>C p.E208Q Missense 5/16 - 2
9-131285600-A-C c.623A>C p.E208A Missense 5/16 - 2
9-131285601-G-C c.624G>C p.E208D Missense 5/16 - 1
9-131285602-C-T c.625C>T p.H209Y Missense 5/16 - 1
9-131285616-A-G c.639A>G p.A213= Synonymous 5/16 - 1
9-131285871-A-T c.643A>T p.I215F Missense 6/16 - 1
9-131285872-T-C c.644T>C p.I215T Missense 6/16 - 1
9-131285889-CGG-AGC c.661_663delinsAGC p.R221S Missense 6/16 - 1
9-131285894-A-C c.666A>C p.E222D Missense 6/16 - 1
9-131285894-A-T c.666A>T p.E222D Missense 6/16 - 1
9-131285895-G-A c.667G>A p.A223T Missense 6/16 - 1
9-131285898-G-A c.670G>A p.E224K Missense 6/16 - 1
9-131285901-C-T c.673C>T p.Q225* Nonsense 6/16 - 1
9-131285903-G-A c.675G>A p.Q225= Synonymous 6/16 - 2
9-131285907-C-G c.679C>G p.R227G Missense 6/16 - 1
9-131285907-C-T c.679C>T p.R227C Missense 6/16 - 5
9-131285908-G-A c.680G>A p.R227H Missense 6/16 - 3
9-131285908-G-T c.680G>T p.R227L Missense 6/16 - 1
9-131285909-C-A c.681C>A p.R227= Synonymous 6/16 - 1
9-131285910-G-A c.682G>A p.V228M Missense 6/16 - 3
9-131285920-C-T c.692C>T p.A231V Missense 6/16 - 4
9-131285922-G-A c.694G>A p.E232K Missense 6/16 - 1
9-131285922-G-C c.694G>C p.E232Q Missense 6/16 - 1
9-131285923-A-G c.695A>G p.E232G Missense 6/16 - 1
9-131285924-A-G c.696A>G p.E232= Synonymous 6/16 - 1
9-131285931-CG-TA c.703_704delinsTA p.R235* Nonsense 6/16 - 1
9-131285931-C-T c.703C>T p.R235W Missense 6/16 - 3
9-131285932-G-A c.704G>A p.R235Q Missense 6/16 - 2
9-131285937-C-T c.709C>T p.R237W Missense 6/16 - 6
9-131285938-G-A c.710G>A p.R237Q Missense 6/16 - 2
9-131285946-G-A c.718G>A p.E240K Missense 6/16 - 1
9-131285946-G-C c.718G>C p.E240Q Missense 6/16 - 3
9-131285949-G-A c.721G>A p.G241S Missense 6/16 - 1
9-131285955-A-G c.727A>G p.I243V Missense 6/16 - 37
9-131285958-C-T c.730C>T p.R244C Missense 6/16 - 3
9-131285959-G-A c.731G>A p.R244H Missense 6/16 - 2
9-131285961-C-T c.733C>T p.L245= Synonymous 6/16 - 1
9-131285964-CGG-TGT c.736_738delinsTGT p.R246C Missense 6/16 - 1
9-131285964-C-T c.736C>T p.R246W Missense 6/16 - 1
9-131285965-G-A c.737G>A p.R246Q Missense 6/16 - 1
9-131285967-G-A c.739G>A p.A247T Missense 6/16 - 1
9-131285970-C-T c.742C>T p.L248F Missense 6/16 - 2
9-131285970-CT-GA c.742_743delinsGA p.L248D Missense 6/16 - 1
9-131285972-C-A c.744C>A p.L248= Synonymous 6/16 - 1
9-131285972-C-G c.744C>G p.L248= Synonymous 6/16 - 1
9-131285972-C-T c.744C>T p.L248= Synonymous 6/16 - 1
9-131285996-G-A c.768G>A p.L256= Synonymous 6/16 - 1
9-131286000-CT-GA c.772_773delinsGA p.L258D Missense 6/16 - 1
9-131286002-C-A c.774C>A p.L258= Synonymous 6/16 - 1
9-131286002-C-G c.774C>G p.L258= Synonymous 6/16 - 1
9-131286002-C-T c.774C>T p.L258= Synonymous 6/16 - 1
9-131286007-A-G c.779A>G p.Q260R Missense 6/16 - 1
9-131286009-C-T c.781C>T p.Q261* Nonsense 6/16 - 1
9-131286011-G-A c.783G>A p.Q261= Synonymous 6/16 - 1
9-131286012-C-A c.784C>A p.L262M Missense 6/16 - 2
9-131286012-CTG-GAC c.784_786delinsGAC p.L262D Missense 6/16 - 1
9-131286019-C-G c.791C>G p.A264G Missense 6/16 - 1
9-131286019-C-T c.791C>T p.A264V Missense 6/16 - 1
9-131286021-TC-CG c.793_794delinsCG p.S265R Missense 6/16 - 1
9-131286028-A-G c.800A>G p.Q267R Missense 6/16 - 3
9-131286037-C-T c.809C>T p.A270V Missense 6/16 - 1
9-131286047-G-A c.819G>A p.K273= Synonymous 6/16 - 1
9-131286048-G-A c.820G>A p.V274I Missense 6/16 - 1
9-131286050-C-T c.822C>T p.V274= Synonymous 6/16 - 1
9-131286051-G-A c.823G>A p.D275N Missense 6/16 - 2
9-131286051-G-C c.823G>C p.D275H Missense 6/16 - 1
9-131286051-G-T c.823G>T p.D275Y Missense 6/16 - 1
9-131286057-G-T c.829G>T p.A277S Missense 6/16 - 1
9-131286065-C-T c.837C>T p.F279= Synonymous 6/16 - 1
9-131286072-C-T c.844C>T p.R282* Nonsense 6/16 - 2
9-131286073-G-A c.845G>A p.R282Q Missense 6/16 - 1
9-131286076-G-T c.848G>T p.G283V Missense 6/16 - 1
9-131286079-A-T c.851A>T p.N284I Missense 6/16 - 1
9-131286090-A-T c.862A>T p.S288C Missense 6/16 - 3
9-131286091-G-A c.863G>A p.S288N Missense 6/16 - 1
9-131286093-C-A c.865C>A p.L289I Missense 6/16 - 2
9-131286093-C-G c.865C>G p.L289V Missense 6/16 - 1
9-131286093-C-T c.865C>T p.L289F Missense 6/16 - 1
9-131286095-C-T c.867C>T p.L289= Synonymous 6/16 - 3
9-131286098-C-A c.870C>A p.I290= Synonymous 6/16 - 1
9-131286102-G-T c.874G>T p.G292W Missense 6/16 - 1
9-131286105-A-T c.877A>T p.I293F Missense 6/16 - 2
9-131286108-A-G c.880A>G p.I294V Missense 6/16 - 1
9-131286114-G-T c.886G>T p.A296S Missense 6/16 - 3
9-131286116-C-A c.888C>A p.A296= Synonymous 6/16 - 1
9-131286116-C-G c.888C>G p.A296= Synonymous 6/16 - 1
9-131286116-C-T c.888C>T p.A296= Synonymous 6/16 - 1
9-131286120-T-TC c.893dup p.E299Rfs*12 Frameshift 6/16 - 1
9-131286121-C-T c.893C>T p.S298L Missense 6/16 - 2
9-131286129-A-AG c.897+10dup - IntronicInsertion - 6/15 1
9-131287352-C-T c.898-119C>T - IntronicSNV - 6/15 3
9-131287478-A-G c.905A>G p.Y302C Missense 7/16 - 1
9-131287494-T-G c.921T>G p.S307R Missense 7/16 - 1
9-131287502-A-G c.929A>G p.E310G Missense 7/16 - 1
9-131287504-G-T c.931G>T p.A311S Missense 7/16 - 1
9-131287509-G-C c.936G>C p.E312D Missense 7/16 - 1
9-131287509-G-T c.936G>T p.E312D Missense 7/16 - 1
9-131287510-CG-AA c.937_938delinsAA p.R313K Missense 7/16 - 1
9-131287511-G-A c.938G>A p.R313Q Missense 7/16 - 1
9-131287514-C-A c.941C>A p.A314D Missense 7/16 - 1
9-131287516-CTG-GAC c.943_945delinsGAC p.L315D Missense 7/16 - 1
9-131287519-CGG-TGT c.946_948delinsTGT p.R316C Missense 7/16 - 1
9-131287519-C-T c.946C>T p.R316W Missense 7/16 - 4
9-131287520-G-A c.947G>A p.R316Q Missense 7/16 - 8
9-131287525-ATG-GAC c.952_954delinsGAC p.M318D Missense 7/16 - 1
9-131287528-C-A c.955C>A p.R319= Synonymous 7/16 - 1
9-131287528-C-T c.955C>T p.R319W Missense 7/16 - 3
9-131287530-G-A c.957G>A p.R319= Synonymous 7/16 - 1
9-131287530-G-C c.957G>C p.R319= Synonymous 7/16 - 1
9-131287530-G-T c.957G>T p.R319= Synonymous 7/16 - 1
9-131287531-G-C c.958G>C p.D320H Missense 7/16 - 1
9-131287534-CTC-ATG c.961_963delinsATG p.L321M Missense 7/16 - 1
9-131287535-T-G c.962T>G p.L321R Missense 7/16 - 1
9-131287537-C-G c.964C>G p.L322V Missense 7/16 - 1
9-131287537-CTG-GAC c.964_966delinsGAC p.L322D Missense 7/16 - 1
9-131287540-A-C c.967A>C p.M323L Missense 7/16 - 1
9-131287546-T-G c.973T>G p.L325V Missense 7/16 - 1
9-131287547-T-C c.974T>C p.L325S Missense 7/16 - 2
9-131287552-C-T c.979C>T p.Q327* Nonsense 7/16 - 1
9-131287558-A-G c.985A>G p.I329V Missense 7/16 - 1
9-131287562-CC-AG c.989_990delinsAG p.T330K Missense 7/16 - 1
9-131287564-AG-CA c.991_992delinsCA p.R331Q Missense 7/16 - 1
9-131287571-G-T c.998G>T p.C333F Missense 7/16 - 1
9-131287572-C-T c.999C>T p.C333= Synonymous 7/16 - 1
9-131287573-G-A c.1000G>A p.E334K Missense 7/16 - 6
9-131287577-A-G c.1004A>G p.D335G Missense 7/16 - 1
9-131287578-CAAG-C c.1007_1009del p.K336del InFrameDeletion 7/16 - 1
9-131287580-A-C c.1007A>C p.K336T Missense 7/16 - 1
9-131287581-G-C c.1008G>C p.K336N Missense 7/16 - 4
9-131287581-G-T c.1008G>T p.K336N Missense 7/16 - 3
9-131287588-C-T c.1015C>T p.Q339* Nonsense 7/16 - 1
9-131287590-G-C c.1017G>C p.Q339H Missense 7/16 - 1
9-131287590-G-T c.1017G>T p.Q339H Missense 7/16 - 1
9-131287597-G-A c.1024G>A p.E342K Missense 7/16 - 2
9-131287600-G-A c.1027G>A p.E343K Missense 7/16 - 1
9-131287608-G-A c.1035G>A p.Q345= Synonymous 7/16 - 1
9-131287610-T-C c.1037T>C p.V346A Missense 7/16 - 1
9-131287613-A-G c.1040A>G p.K347R Missense 7/16 - 1
9-131287614-G-C c.1041G>C p.K347N Missense 7/16 - 1
9-131287614-G-T c.1041G>T p.K347N Missense 7/16 - 1
9-131287619-A-G c.1046A>G p.Q349R Missense 7/16 - 1
9-131287621-G-A c.1048G>A p.E350K Missense 7/16 - 2
9-131287628-A-G c.1055A>G p.Q352R Missense 7/16 - 1
9-131287636-C-A c.1063C>A p.Q355K Missense 7/16 - 1
9-131287638-G-A c.1065G>A p.Q355= Synonymous 7/16 - 1
9-131287639-G-A c.1066G>A p.G356R Missense 7/16 - 1
9-131287639-G-C c.1066G>C p.G356R Missense 7/16 - 1
9-131287640-G-C c.1067G>C p.G356A Missense 7/16 - 1
9-131287642-C-G c.1069C>G p.P357A Missense 7/16 - 1
9-131287651-C-T c.1078C>T p.H360Y Missense 7/16 - 1
9-131287652-A-C c.1079A>C p.H360P Missense 7/16 - 1
9-131287658-A-G c.1085A>G p.E362G Missense 7/16 - 1
9-131287660-C-T c.1087C>T p.P363S Missense 7/16 - 1
9-131287661-C-T c.1088C>T p.P363L Missense 7/16 - 2
9-131287663-C-T c.1090C>T p.P364S Missense 7/16 - 1
9-131287664-C-CA c.1092dup p.A365Sfs*12 Frameshift 7/16 - 2
9-131287666-G-A c.1093G>A p.A365T Missense 7/16 - 3
9-131287673-G-A c.1100G>A p.S367N Missense 7/16 - 1
9-131287678-G-C c.1105G>C p.G369R Missense 7/16 - 1
9-131287679-G-A c.1106G>A p.G369D Missense 7/16 - 1
9-131287689-G-A c.1116G>A p.G372= Synonymous 7/16 - 1
9-131287690-A-T c.1117A>T p.K373* Nonsense 7/16 - 1
9-131287702-G-A c.1129G>A p.D377N Missense 7/16 - 1
9-131289464-A-G c.1136A>G p.Q379R Missense 8/16 - 1
9-131289466-G-A c.1138G>A p.V380M Missense 8/16 - 1
9-131289469-A-C c.1141A>C p.K381Q Missense 8/16 - 1
9-131289470-A-G c.1142A>G p.K381R Missense 8/16 - 1
9-131289471-G-A c.1143G>A p.K381= Synonymous 8/16 - 1
9-131289472-G-A c.1144G>A p.V382I Missense 8/16 - 1
9-131289475-C-A c.1147C>A p.Q383K Missense 8/16 - 1
9-131289477-A-G c.1149A>G p.Q383= Synonymous 8/16 - 1
9-131289479-A-C c.1151A>C p.D384A Missense 8/16 - 1
9-131289479-A-G c.1151A>G p.D384G Missense 8/16 - 1
9-131289484-A-G c.1156A>G p.T386A Missense 8/16 - 1
9-131289485-C-T c.1157C>T p.T386I Missense 8/16 - 1
9-131289486-A-G c.1158A>G p.T386= Synonymous 8/16 - 1
9-131289491-A-T c.1163A>T p.Q388L Missense 8/16 - 1
9-131289494-G-A c.1166G>A p.W389* Nonsense 8/16 - 1
9-131289495-G-A c.1167G>A p.W389* Nonsense 8/16 - 1
9-131289497-A-G c.1169A>G p.Y390C Missense 8/16 - 1
9-131289511-G-A c.1183G>A p.D395N Missense 8/16 - 1
9-131289515-C-T c.1187C>T p.A396V Missense 8/16 - 1
9-131289516-T-C c.1188T>C p.A396= Synonymous 8/16 - 1
9-131289519-C-A c.1191C>A p.S397= Synonymous 8/16 - 1
9-131289519-C-G c.1191C>G p.S397= Synonymous 8/16 - 1
9-131289519-C-T c.1191C>T p.S397= Synonymous 8/16 - 1
9-131289520-A-G c.1192A>G p.M398V Missense 8/16 - 1
9-131289521-T-C c.1193T>C p.M398T Missense 8/16 - 1
9-131289525-G-C c.1197G>C p.Q399H Missense 8/16 - 1
9-131289525-G-T c.1197G>T p.Q399H Missense 8/16 - 1
9-131289528-T-C c.1200T>C p.C400= Synonymous 8/16 - 1
9-131289538-T-G c.1210T>G p.F404V Missense 8/16 - 1
9-131289545-G-A c.1217G>A p.G406D Missense 8/16 - 2
9-131289550-A-G c.1222A>G p.T408A Missense 8/16 - 1
9-131289561-G-C c.1233G>C p.K411N Missense 8/16 - 1
9-131289568-C-T c.1240C>T p.Q414* Nonsense 8/16 - 1
9-131289600-G-A c.1242+30G>A - IntronicSNV - 8/15 3
9-131289600-G-T c.1242+30G>T - IntronicSNV - 8/15 6
9-131289730-G-A c.1243-5G>A - IntronicSNV - 8/15 1
9-131289736-C-A c.1244C>A p.A415D Missense 9/16 - 1
9-131289737-C-A c.1245C>A p.A415= Synonymous 9/16 - 1
9-131289737-C-G c.1245C>G p.A415= Synonymous 9/16 - 1
9-131289737-C-T c.1245C>T p.A415= Synonymous 9/16 - 2
9-131289739-A-G c.1247A>G p.K416R Missense 9/16 - 2
9-131289744-A-G c.1252A>G p.I418V Missense 9/16 - 1
9-131289760-A-C c.1268A>C p.Q423P Missense 9/16 - 1
9-131289768-G-T c.1276G>T p.A426S Missense 9/16 - 1
9-131289772-C-G c.1280C>G p.T427S Missense 9/16 - 1
9-131289773-C-T c.1281C>T p.T427= Synonymous 9/16 - 2
9-131289776-C-T c.1284C>T p.I428= Synonymous 9/16 - 1
9-131289778-C-T c.1286C>T p.P429L Missense 9/16 - 1
9-131289780-G-C c.1288G>C p.V430L Missense 9/16 - 1
9-131289780-G-T c.1288G>T p.V430L Missense 9/16 - 1
9-131289785-C-T c.1293C>T p.S431= Synonymous 9/16 - 1
9-131289791-C-A c.1299C>A p.I433= Synonymous 9/16 - 1
9-131289793-C-T c.1301C>T p.S434F Missense 9/16 - 1
9-131290263-CT-C c.1312+469del - IntronicDeletion - 9/15 1
9-131290274-C-T c.1312+470C>T - IntronicSNV - 9/15 1
9-131295795-C-T c.1316C>T p.S439L Missense 10/16 - 1
9-131295802-G-T c.1323G>T p.L441= Synonymous 10/16 - 2
9-131295806-G-A c.1327G>A p.E443K Missense 10/16 - 3
9-131295823-C-A c.1344C>A p.I448= Synonymous 10/16 - 2
9-131295823-C-T c.1344C>T p.I448= Synonymous 10/16 - 2
9-131295826-C-T c.1347C>T p.H449= Synonymous 10/16 - 1
9-131295828-G-A c.1349G>A p.S450N Missense 10/16 - 2
9-131295830-C-T c.1351C>T p.L451= Synonymous 10/16 - 1
9-131295832-G-A c.1353G>A p.L451= Synonymous 10/16 - 1
9-131295832-G-C c.1353G>C p.L451= Synonymous 10/16 - 1
9-131295832-G-T c.1353G>T p.L451= Synonymous 10/16 - 1
9-131295839-G-A c.1360G>A p.G454R Missense 10/16 - 1
9-131295840-GA-G c.1365del p.K455Nfs*31 Frameshift 10/16 - 2
9-131295845-C-T c.1366C>T p.P456S Missense 10/16 - 1
9-131295857-GGT-TGG c.1378_1380delinsTGG p.G460W Missense 10/16 - 1
9-131295864-G-A c.1385G>A p.R462H Missense 10/16 - 3
9-131295864-G-T c.1385G>T p.R462L Missense 10/16 - 2
9-131295867-C-T c.1388C>T p.S463F Missense 10/16 - 1
9-131295870-T-A c.1391T>A p.V464E Missense 10/16 - 1
9-131295875-G-A c.1396G>A p.V466I Missense 10/16 - 1
9-131295881-C-T c.1402C>T p.L468F Missense 10/16 - 1
9-131295882-T-C c.1403T>C p.L468P Missense 10/16 - 1
9-131295882-T-G c.1403T>G p.L468R Missense 10/16 - 1
9-131295883-T-A c.1404T>A p.L468= Synonymous 10/16 - 1
9-131295883-T-C c.1404T>C p.L468= Synonymous 10/16 - 1
9-131295883-T-G c.1404T>G p.L468= Synonymous 10/16 - 1
9-131295889-A-C c.1410A>C p.P470= Synonymous 10/16 - 1
9-131295889-A-T c.1410A>T p.P470= Synonymous 10/16 - 1
9-131295890-C-T c.1411C>T p.Q471* Nonsense 10/16 - 1
9-131295893-G-A c.1414G>A p.G472R Missense 10/16 - 1
9-131295893-G-C c.1414G>C p.G472R Missense 10/16 - 1
9-131295899-G-C c.1420G>C p.D474H Missense 10/16 - 2
9-131295901-C-A c.1422C>A p.D474E Missense 10/16 - 2
9-131295905-GTT-ATG c.1426_1428delinsATG p.V476M Missense 10/16 - 1
9-131295907-T-C c.1428T>C p.V476= Synonymous 10/16 - 1
9-131295910-A-G c.1431A>G p.Q477= Synonymous 10/16 - 1
9-131295912-A-G c.1433A>G p.Y478C Missense 10/16 - 1
9-131295920-G-A c.1441G>A p.A481T Missense 10/16 - 1
9-131295925-G-C c.1446G>C p.E482D Missense 10/16 - 1
9-131295925-G-T c.1446G>T p.E482D Missense 10/16 - 2
9-131296046-G-T c.1462G>T p.G488C Missense 11/16 - 2
9-131296049-G-A c.1465G>A p.E489K Missense 11/16 - 2
9-131296054-G-GT c.1470_1471insT p.E491* Nonsense 11/16 - 1
9-131296055-GA-AT c.1471_1472delinsAT p.E491I Missense 11/16 - 1
9-131296058-G-A c.1474G>A p.V492M Missense 11/16 - 1
9-131296060-TGGCC-T c.1476_1479del p.A493Lfs*62 Frameshift 11/16 - 1
9-131296072-T-C c.1488T>C p.H496= Synonymous 11/16 - 2
9-131296077-C-G c.1493C>G p.A498G Missense 11/16 - 1
9-131296078-A-C c.1494A>C p.A498= Synonymous 11/16 - 1
9-131296078-A-G c.1494A>G p.A498= Synonymous 11/16 - 1
9-131296078-A-T c.1494A>T p.A498= Synonymous 11/16 - 3
9-131296104-C-G c.1520C>G p.S507C Missense 11/16 - 1
9-131296106-G-A c.1522G>A p.G508R Missense 11/16 - 2
9-131296106-G-C c.1522G>C p.G508R Missense 11/16 - 1
9-131296108-G-C c.1524G>C p.G508= Synonymous 11/16 - 3
9-131296114-G-A c.1530G>A p.W510* Nonsense 11/16 - 1
9-131296128-G-C c.1544G>C p.R515T Missense 11/16 - 2
9-131296136-G-A c.1552G>A p.D518N Missense 11/16 - 2
9-131296141-C-A c.1557C>A p.L519= Synonymous 11/16 - 1
9-131296141-C-G c.1557C>G p.L519= Synonymous 11/16 - 1
9-131296141-C-T c.1557C>T p.L519= Synonymous 11/16 - 1
9-131296142-AT-GA c.1558_1559delinsGA p.I520D Missense 11/16 - 1
9-131296156-A-G c.1572A>G p.L524= Synonymous 11/16 - 1
9-131296158-A-G c.1574A>G p.H525R Missense 11/16 - 2
9-131296169-C-T c.1585C>T p.P529S Missense 11/16 - 1
9-131296170-C-A c.1586C>A p.P529H Missense 11/16 - 1
9-131296178-G-C c.1594G>C p.V532L Missense 11/16 - 1
9-131296186-C-G c.1602C>G p.F534L Missense 11/16 - 1
9-131296185-T-C c.1601T>C p.F534S Missense 11/16 - 1
9-131296190-C-T c.1606C>T p.P536S Missense 11/16 - 4
9-131296191-C-G c.1607C>G p.P536R Missense 11/16 - 1
9-131296195-T-A c.1611T>A p.T537= Synonymous 11/16 - 1
9-131296195-T-C c.1611T>C p.T537= Synonymous 11/16 - 1
9-131296195-T-G c.1611T>G p.T537= Synonymous 11/16 - 1
9-131296201-G-A c.1617G>A p.K539= Synonymous 11/16 - 2
9-131296206-G-A c.1622G>A p.G541E Missense 11/16 - 1
9-131296206-G-GA c.1624dup p.M542Nfs*83 Frameshift 11/16 - 1
9-131296222-C-G c.1638C>G p.D546E Missense 11/16 - 1
9-131296222-C-T c.1638C>T p.D546= Synonymous 11/16 - 1
9-131296225-T-C c.1641T>C p.Y547= Synonymous 11/16 - 1
9-131296228-G-A c.1644G>A p.Q548= Synonymous 11/16 - 2
9-131296266-A-G c.1646+36A>G - IntronicSNV - 11/15 1
9-131298590-A-G c.1647-44A>G - IntronicSNV - 11/15 6
9-131298628-G-A c.1647-6G>A - IntronicSNV - 11/15 1
9-131298649-A-C c.1662A>C p.Q554H Missense 12/16 - 1
9-131298649-A-T c.1662A>T p.Q554H Missense 12/16 - 1
9-131298653-A-G c.1666A>G p.K556E Missense 12/16 - 1
9-131298655-G-A c.1668G>A p.K556= Synonymous 12/16 - 1
9-131298670-G-A c.1683G>A p.E561= Synonymous 12/16 - 1
9-131298670-G-C c.1683G>C p.E561D Missense 12/16 - 1
9-131298670-G-T c.1683G>T p.E561D Missense 12/16 - 1
9-131298671-C-T c.1684C>T p.Q562* Nonsense 12/16 - 2
9-131298692-C-T c.1705C>T p.R569C Missense 12/16 - 2
9-131298693-G-A c.1706G>A p.R569H Missense 12/16 - 24
9-131298695-A-T c.1708A>T p.M570L Missense 12/16 - 1
9-131298699-C-T c.1712C>T p.S571L Missense 12/16 - 1
9-131298702-G-A c.1715G>A p.G572E Missense 12/16 - 1
9-131298704-A-G c.1717A>G p.M573V Missense 12/16 - 1
9-131298709-C-T c.1722C>T p.I574= Synonymous 12/16 - 1
9-131298710-C-T c.1723C>T p.R575C Missense 12/16 - 2
9-131298711-G-A c.1724G>A p.R575H Missense 12/16 - 1
9-131298720-C-T c.1733C>T p.A578V Missense 12/16 - 1
9-131298725-A-G c.1738A>G p.I580V Missense 12/16 - 1
9-131298732-A-G c.1745A>G p.Q582R Missense 12/16 - 1
9-131298737-C-T c.1750C>T p.R584W Missense 12/16 - 9
9-131298738-G-A c.1751G>A p.R584Q Missense 12/16 - 3
9-131298746-T-C c.1759T>C p.Y587H Missense 12/16 - 1
9-131298755-C-T c.1768C>T p.R590* Nonsense 12/16 - 2
9-131298756-G-A c.1769G>A p.R590Q Missense 12/16 - 2
9-131298756-G-T c.1769G>T p.R590L Missense 12/16 - 2
9-131298758-C-T c.1771C>T p.Q591* Nonsense 12/16 - 2
9-131300143-G-A c.1777-122G>A - IntronicSNV - 12/15 4
9-131300268-C-T c.1780C>T p.H594Y Missense 13/16 - 2
9-131300272-C-T c.1784C>T p.P595L Missense 13/16 - 1
9-131300274-C-G c.1786C>G p.H596D Missense 13/16 - 1
9-131300278-G-A c.1790G>A p.G597D Missense 13/16 - 2
9-131300279-C-A c.1791C>A p.G597= Synonymous 13/16 - 1
9-131300279-C-G c.1791C>G p.G597= Synonymous 13/16 - 1
9-131300279-C-T c.1791C>T p.G597= Synonymous 13/16 - 1
9-131300283-A-G c.1795A>G p.N599D Missense 13/16 - 1
9-131300295-C-T c.1807C>T p.R603C Missense 13/16 - 1
9-131300296-G-A c.1808G>A p.R603H Missense 13/16 - 1
9-131300296-G-C c.1808G>C p.R603P Missense 13/16 - 1
9-131300296-G-T c.1808G>T p.R603L Missense 13/16 - 3
9-131300298-T-C c.1810T>C p.W604R Missense 13/16 - 1
9-131300298-TG-GC c.1810_1811delinsGC p.W604A Missense 13/16 - 1
9-131300300-G-C c.1812G>C p.W604C Missense 13/16 - 1
9-131300306-A-C c.1818A>C p.A606= Synonymous 13/16 - 1
9-131300306-A-G c.1818A>G p.A606= Synonymous 13/16 - 1
9-131300306-A-T c.1818A>T p.A606= Synonymous 13/16 - 1
9-131300309-G-A c.1821G>A p.Q607= Synonymous 13/16 - 2
9-131300312-C-T c.1824C>T p.I608= Synonymous 13/16 - 1
9-131300324-G-A c.1836G>A p.E612= Synonymous 13/16 - 1
9-131300334-G-C c.1846G>C p.D616H Missense 13/16 - 2
9-131300337-G-A c.1849G>A p.V617M Missense 13/16 - 10
9-131300339-G-A c.1851G>A p.V617= Synonymous 13/16 - 1
9-131300339-G-C c.1851G>C p.V617= Synonymous 13/16 - 1
9-131300339-G-T c.1851G>T p.V617= Synonymous 13/16 - 1
9-131300342-A-T c.1854A>T p.T618= Synonymous 13/16 - 1
9-131300343-G-A c.1855G>A p.A619T Missense 13/16 - 5
9-131300355-T-C c.1867T>C p.F623L Missense 13/16 - 1
9-131300357-T-A c.1869T>A p.F623L Missense 13/16 - 1
9-131300357-T-G c.1869T>G p.F623L Missense 13/16 - 1
9-131300357-T-TATTATCCCGAATAGAATGGAATGGAATGGAATG c.1869_1870insATTATCCCGAATAGAATGGAATGGAATGGAATG p.F623_D624insIIPNRMEWNGM InFrameInsertion 13/16 - 1
9-131300358-G-T c.1870G>T p.D624Y Missense 13/16 - 1
9-131300362-T-C c.1874T>C p.F625S Missense 13/16 - 1
9-131300364-C-A c.1876C>A p.L626M Missense 13/16 - 2
9-131300367-G-A c.1879G>A p.E627K Missense 13/16 - 1
9-131300442-G-A c.1881+73G>A - IntronicSNV - 13/15 1
9-131300592-C-T c.1881+223C>T - IntronicSNV - 13/15 1
9-131301901-G-A c.1888G>A p.G630R Missense 14/16 - 2
9-131301901-G-C c.1888G>C p.G630R Missense 14/16 - 1
9-131301908-C-T c.1895C>T p.A632V Missense 14/16 - 1
9-131301910-C-G c.1897C>G p.L633V Missense 14/16 - 2
9-131301912-C-T c.1899C>T p.L633= Synonymous 14/16 - 1
9-131301914-T-C c.1901T>C p.M634T Missense 14/16 - 1
9-131301915-G-A c.1902G>A p.M634I Missense 14/16 - 1
9-131301915-G-C c.1902G>C p.M634I Missense 14/16 - 1
9-131301915-G-T c.1902G>T p.M634I Missense 14/16 - 1
9-131301925-C-T c.1912C>T p.Q638* Nonsense 14/16 - 1
9-131301926-A-G c.1913A>G p.Q638R Missense 14/16 - 2
9-131301929-T-G c.1916T>G p.V639G Missense 14/16 - 1
9-131301943-A-C c.1930A>C p.M644L Missense 14/16 - 3
9-131301943-A-T c.1930A>T p.M644L Missense 14/16 - 1
9-131301945-G-A c.1932G>A p.M644I Missense 14/16 - 1
9-131301946-C-A c.1933C>A p.L645I Missense 14/16 - 1
9-131301949-A-C c.1936A>C p.I646L Missense 14/16 - 1
9-131301952-C-G c.1939C>G p.L647V Missense 14/16 - 1
9-131301966-C-A c.1953C>A p.D651E Missense 14/16 - 1
9-131301966-C-G c.1953C>G p.D651E Missense 14/16 - 1
9-131301968-A-G c.1955A>G p.Y652C Missense 14/16 - 1
9-131301973-C-T c.1960C>T p.P654S Missense 14/16 - 1
9-131301980-A-G c.1964+3A>G - IntronicSNV - 14/15 1
9-131301982-C-G c.1964+5C>G - IntronicSNV - 14/15 1
9-131301983-A-T c.1964+6A>T - IntronicSNV - 14/15 1
9-131302555-A-G c.1966A>G p.I656V Missense 15/16 - 1
9-131302562-C-T c.1973C>T p.A658V Missense 15/16 - 1
9-131302572-C-T c.1983C>T p.S661= Synonymous 15/16 - 1
9-131302586-G-A c.1997G>A p.G666D Missense 15/16 - 1
9-131302586-G-T c.1997G>T p.G666V Missense 15/16 - 2
9-131302593-C-A c.2004C>A p.F668L Missense 15/16 - 1
9-131302595-T-C c.2006T>C p.I669T Missense 15/16 - 1
9-131302598-G-A c.2009G>A p.R670H Missense 15/16 - 3
9-131302598-G-T c.2009G>T p.R670L Missense 15/16 - 1
9-131302601-T-A c.2012T>A p.L671H Missense 15/16 - 1
9-131302602-C-A c.2013C>A p.L671= Synonymous 15/16 - 1
9-131302602-C-G c.2013C>G p.L671= Synonymous 15/16 - 1
9-131302602-C-T c.2013C>T p.L671= Synonymous 15/16 - 1
9-131302603-A-G c.2014A>G p.K672E Missense 15/16 - 1
9-131302606-C-A c.2017C>A p.Q673K Missense 15/16 - 1
9-131302606-CAG-GAC c.2017_2019delinsGAC p.Q673D Missense 15/16 - 1
9-131302607-A-T c.2018A>T p.Q673L Missense 15/16 - 1
9-131303395-C-G c.2043C>G p.H681Q Missense 16/16 - 1
9-131303403-T-C c.2051T>C p.I684T Missense 16/16 - 11
9-131303415-AAGG-A c.2063_2065del p.K688_G689delinsS MultiAAMissense 16/16 - 1
9-131303415-A-G c.2063A>G p.K688R Missense 16/16 - 1
9-131303417-G-A c.2065G>A p.G689S Missense 16/16 - 3
9-131303418-G-C c.2066G>C p.G689A Missense 16/16 - 1
9-131303421-T-C c.2069T>C p.F690S Missense 16/16 - 1
9-131303421-T-G c.2069T>G p.F690C Missense 16/16 - 1
9-131303430-C-T c.2078C>T p.S693F Missense 16/16 - 4
9-131303433-C-G c.2081C>G p.S694C Missense 16/16 - 1
9-131303433-C-T c.2081C>T p.S694F Missense 16/16 - 2
9-131303434-C-A c.2082C>A p.S694= Synonymous 16/16 - 1
9-131303434-C-G c.2082C>G p.S694= Synonymous 16/16 - 1
9-131303434-C-T c.2082C>T p.S694= Synonymous 16/16 - 1
9-131303436-T-C c.2084T>C p.F695S Missense 16/16 - 3
9-131303441-C-G c.2089C>G p.R697G Missense 16/16 - 1
9-131303441-C-T c.2089C>T p.R697C Missense 16/16 - 7
9-131303442-G-A c.2090G>A p.R697H Missense 16/16 - 2
9-131303522-G-A c.*73G>A - 3-UTRSNV 16/16 - 11
9-131303630-C-A c.*181C>A - 3-UTRSNV 16/16 - 1
9-131303836-C-G c.*387C>G - 3-UTRSNV 16/16 - 2
9-131303836-C-T c.*387C>T - 3-UTRSNV 16/16 - 2
9-131304356-G-A c.*907G>A - 3-UTRSNV 16/16 - 2
9-131304356-G-C c.*907G>C - 3-UTRSNV 16/16 - 2
9-131304454-T-C c.*1005T>C - 3-UTRSNV 16/16 - 2