NR0B2

NR0B2 nuclear receptor subfamily 0 group B member 2

Annotation transcript: NM_021969.3

355 unique variant annotations were identified in 315 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
1-27238150-A-G c.*186T>C - 3-UTRSNV 2/2 - 10
1-27238176-A-G c.*160T>C - 3-UTRSNV 2/2 - 1
1-27238235-G-A c.*101C>T - 3-UTRSNV 2/2 - 4
1-27238235-G-C c.*101C>G - 3-UTRSNV 2/2 - 4
1-27238342-G-A c.768C>T p.L256= Synonymous 2/2 - 1
1-27238342-G-C c.768C>G p.L256= Synonymous 2/2 - 1
1-27238342-G-T c.768C>A p.L256= Synonymous 2/2 - 1
1-27238376-T-C c.734A>G p.D245G Missense 2/2 - 1
1-27238377-C-G c.733G>C p.D245H Missense 2/2 - 1
1-27238388-A-C c.722T>G p.I241S Missense 2/2 - 1
1-27238388-A-G c.722T>C p.I241T Missense 2/2 - 1
1-27238392-T-C c.718A>G p.I240V Missense 2/2 - 1
1-27238394-G-A c.716C>T p.P239L Missense 2/2 - 1
1-27238394-G-T c.716C>A p.P239H Missense 2/2 - 2
1-27238395-G-A c.715C>T p.P239S Missense 2/2 - 1
1-27238396-G-A c.714C>T p.R238= Synonymous 2/2 - 1
1-27238396-G-C c.714C>G p.R238= Synonymous 2/2 - 1
1-27238396-G-T c.714C>A p.R238= Synonymous 2/2 - 1
1-27238397-C-G c.713G>C p.R238P Missense 2/2 - 1
1-27238397-CG-GC c.712_713delinsGC p.R238A Missense 2/2 - 1
1-27238397-CG-TC c.712_713delinsGA p.R238D Missense 2/2 - 1
1-27238397-C-T c.713G>A p.R238H Missense 2/2 - 3
1-27238398-G-A c.712C>T p.R238C Missense 2/2 - 2
1-27238400-A-T c.710T>A p.F237Y Missense 2/2 - 2
1-27238406-AG-GC c.703_704delinsGC p.L235A Missense 2/2 - 2
1-27238411-C-T c.699G>A p.G233= Synonymous 2/2 - 1
1-27238414-A-C c.696T>G p.L232= Synonymous 2/2 - 1
1-27238414-A-G c.696T>C p.L232= Synonymous 2/2 - 1
1-27238414-A-T c.696T>A p.L232= Synonymous 2/2 - 1
1-27238424-G-A c.686C>T p.T229I Missense 2/2 - 1
1-27238431-T-C c.679A>G p.I227V Missense 2/2 - 1
1-27238432-G-A c.678C>T p.S226= Synonymous 2/2 - 2
1-27238433-G-C c.677C>G p.S226C Missense 2/2 - 1
1-27238440-G-T c.670C>A p.L224I Missense 2/2 - 1
1-27238442-G-A c.668C>T p.T223I Missense 2/2 - 1
1-27238443-T-C c.667A>G p.T223A Missense 2/2 - 1
1-27238447-GG-CT c.662_663delinsAG p.A221E Missense 2/2 - 1
1-27238449-C-T c.661G>A p.A221T Missense 2/2 - 3
1-27238451-G-A c.659C>T p.T220M Missense 2/2 - 2
1-27238454-A-T c.656T>A p.L219H Missense 2/2 - 1
1-27238457-A-G c.653T>C p.L218P Missense 2/2 - 1
1-27238458-G-A c.652C>T p.L218F Missense 2/2 - 3
1-27238458-G-C c.652C>G p.L218V Missense 2/2 - 1
1-27238463-C-T c.647G>A p.R216H Missense 2/2 - 12
1-27238464-G-A c.646C>T p.R216C Missense 2/2 - 2
1-27238467-T-C c.643A>G p.T215A Missense 2/2 - 1
1-27238471-G-A c.639C>T p.R213= Synonymous 2/2 - 3
1-27238472-C-A c.638G>T p.R213L Missense 2/2 - 1
1-27238472-C-T c.638G>A p.R213H Missense 2/2 - 2
1-27238473-G-A c.637C>T p.R213C Missense 2/2 - 10
1-27238476-C-T c.634G>A p.G212S Missense 2/2 - 1
1-27238492-C-T c.618G>A p.W206* Nonsense 2/2 - 4
1-27238493-C-A c.617G>T p.W206L Missense 2/2 - 1
1-27238493-C-T c.617G>A p.W206* Nonsense 2/2 - 2
1-27238494-A-G c.616T>C p.W206R Missense 2/2 - 1
1-27238494-A-T c.616T>A p.W206R Missense 2/2 - 1
1-27238496-G-T c.614C>A p.P205H Missense 2/2 - 1
1-27238497-G-A c.613C>T p.P205S Missense 2/2 - 1
1-27238500-C-T c.610G>A p.E204K Missense 2/2 - 3
1-27238504-G-A c.606C>T p.V202= Synonymous 2/2 - 1
1-27238519-C-T c.591G>A p.W197* Nonsense 2/2 - 1
1-27238520-C-T c.590G>A p.W197* Nonsense 2/2 - 2
1-27238527-C-A c.583G>T p.A195S Missense 2/2 - 8
1-27238529-T-G c.581A>C p.E194A Missense 2/2 - 1
1-27238538-A-C c.572T>G p.L191R Missense 2/2 - 1
1-27238544-C-T c.566G>A p.G189E Missense 2/2 - 9
1-27238545-C-G c.565G>C p.G189R Missense 2/2 - 1
1-27238545-C-T c.565G>A p.G189R Missense 2/2 - 3
1-27238552-G-A c.558C>T p.S186= Synonymous 2/2 - 2
1-27238557-C-A c.553G>T p.A185S Missense 2/2 - 1
1-27238572-G-C c.538C>G p.P180A Missense 2/2 - 1
1-27238572-G-T c.538C>A p.P180T Missense 2/2 - 1
1-27238574-A-G c.536T>C p.V179A Missense 2/2 - 1
1-27239900-C-T c.532G>A p.D178N Missense 1/2 - 2
1-27239901-G-A c.531C>T p.P177= Synonymous 1/2 - 1
1-27239917-G-A c.515C>T p.T172I Missense 1/2 - 1
1-27239918-T-G c.514A>C p.T172P Missense 1/2 - 2
1-27239919-C-A c.513G>T p.G171= Synonymous 1/2 - 1
1-27239919-C-G c.513G>C p.G171= Synonymous 1/2 - 1
1-27239919-C-T c.513G>A p.G171= Synonymous 1/2 - 1
1-27239920-C-G c.512G>C p.G171A Missense 1/2 - 26
1-27239922-T-A c.510A>T p.K170N Missense 1/2 - 4
1-27239922-T-G c.510A>C p.K170N Missense 1/2 - 2
1-27239923-T-C c.509A>G p.K170R Missense 1/2 - 2
1-27239925-C-T c.507G>A p.L169= Synonymous 1/2 - 2
1-27239928-G-A c.504C>T p.C168= Synonymous 1/2 - 1
1-27239936-A-G c.496T>C p.Y166H Missense 1/2 - 2
1-27239939-C-T c.493G>A p.E165K Missense 1/2 - 9
1-27239941-T-G c.491A>C p.K164T Missense 1/2 - 1
1-27239948-T-G c.484A>C p.S162R Missense 1/2 - 1
1-27239949-A-C c.483T>G p.L161= Synonymous 1/2 - 1
1-27239949-A-G c.483T>C p.L161= Synonymous 1/2 - 1
1-27239949-A-T c.483T>A p.L161= Synonymous 1/2 - 1
1-27239948-TA-T c.483del p.S162Afs*8 Frameshift 1/2 - 1
1-27239950-A-G c.482T>C p.L161P Missense 1/2 - 1
1-27239954-C-T c.478G>A p.E160K Missense 1/2 - 1
1-27239958-G-A c.474C>T p.S158= Synonymous 1/2 - 1
1-27239958-GCT-CTC c.472_474delinsGAG p.S158E Missense 1/2 - 1
1-27239959-C-T c.473G>A p.S158N Missense 1/2 - 1
1-27239970-C-T c.462G>A p.E154= Synonymous 1/2 - 1
1-27239972-C-T c.460G>A p.E154K Missense 1/2 - 1
1-27239980-C-T c.452G>A p.C151Y Missense 1/2 - 1
1-27239980-C-G c.452G>C p.C151S Missense 1/2 - 1
1-27239981-A-G c.451T>C p.C151R Missense 1/2 - 1
1-27239981-A-T c.451T>A p.C151S Missense 1/2 - 1
1-27239982-T-C c.450A>G p.Q150= Synonymous 1/2 - 1
1-27239983-T-C c.449A>G p.Q150R Missense 1/2 - 1
1-27239983-TG-GT c.448_449delinsAC p.Q150T Missense 1/2 - 1
1-27239984-G-A c.448C>T p.Q150* Nonsense 1/2 - 4
1-27239989-CA-GC c.442_443delinsGC p.W148A Missense 1/2 - 1
1-27239990-A-C c.442T>G p.W148G Missense 1/2 - 1
1-27239993-G-A c.439C>T p.Q147* Nonsense 1/2 - 1
1-27239994-CAC-AAA c.436_438delinsTTT p.V146F Missense 1/2 - 1
1-27239997-C-A c.435G>T p.A145= Synonymous 1/2 - 2
1-27239997-C-G c.435G>C p.A145= Synonymous 1/2 - 2
1-27239997-C-T c.435G>A p.A145= Synonymous 1/2 - 2
1-27240000-A-C c.432T>G p.A144= Synonymous 1/2 - 1
1-27240000-AG-CT c.431_432inv p.A144E Missense 1/2 - 1
1-27240002-C-T c.430G>A p.A144T Missense 1/2 - 1
1-27240004-A-T c.428T>A p.L143Q Missense 1/2 - 1
1-27240006-G-A c.426C>T p.S142= Synonymous 1/2 - 1
1-27240006-G-C c.426C>G p.S142= Synonymous 1/2 - 1
1-27240006-G-T c.426C>A p.S142= Synonymous 1/2 - 1
1-27240011-G-A c.421C>T p.P141S Missense 1/2 - 1
1-27240013-T-G c.419A>C p.Q140P Missense 1/2 - 1
1-27240014-G-T c.418C>A p.Q140K Missense 1/2 - 2
1-27240015-G-A c.417C>T p.P139= Synonymous 1/2 - 1
1-27240016-G-T c.416C>A p.P139H Missense 1/2 - 5
1-27240017-G-A c.415C>T p.P139S Missense 1/2 - 1
1-27240017-G-T c.415C>A p.P139T Missense 1/2 - 2
1-27240018-TCT-GTC c.412_414delinsGAC p.R138D Missense 1/2 - 1
1-27240019-CT-GC c.412_413delinsGC p.R138A Missense 1/2 - 1
1-27240026-G-A c.406C>T p.P136S Missense 1/2 - 1
1-27240026-G-T c.406C>A p.P136T Missense 1/2 - 2
1-27240031-T-C c.401A>G p.Q134R Missense 1/2 - 2
1-27240032-G-A c.400C>T p.Q134* Nonsense 1/2 - 1
1-27240033-G-A c.399C>T p.G133= Synonymous 1/2 - 1
1-27240033-G-C c.399C>G p.G133= Synonymous 1/2 - 1
1-27240033-G-T c.399C>A p.G133= Synonymous 1/2 - 1
1-27240040-C-A c.392G>T p.G131V Missense 1/2 - 1
1-27240043-C-T c.389G>A p.G130E Missense 1/2 - 1
1-27240044-C-G c.388G>C p.G130R Missense 1/2 - 1
1-27240044-C-T c.388G>A p.G130R Missense 1/2 - 1
1-27240051-G-C c.381C>G p.S127R Missense 1/2 - 1
1-27240056-G-C c.376C>G p.P126A Missense 1/2 - 1
1-27240062-C-T c.370G>A p.E124K Missense 1/2 - 2
1-27240063-C-T c.369G>A p.L123= Synonymous 1/2 - 2
1-27240070-A-G c.362T>C p.I121T Missense 1/2 - 1
1-27240073-TT-GC c.358_359delinsGC p.K120A Missense 1/2 - 1
1-27240076-T-C c.356A>G p.K119R Missense 1/2 - 1
1-27240077-T-A c.355A>T p.K119* Nonsense 1/2 - 1
1-27240078-G-C c.354C>G p.L118= Synonymous 1/2 - 1
1-27240080-G-C c.352C>G p.L118V Missense 1/2 - 1
1-27240083-AT-A c.349del p.I117Yfs*53 Frameshift 1/2 - 1
1-27240084-G-A c.348C>T p.S116= Synonymous 1/2 - 1
1-27240085-C-A c.347G>T p.S116I Missense 1/2 - 2
1-27240086-T-C c.346A>G p.S116G Missense 1/2 - 1
1-27240087-GG-TT c.344_345delinsAA p.P115Q Missense 1/2 - 1
1-27240089-G-A c.343C>T p.P115S Missense 1/2 - 2
1-27240090-C-A c.342G>T p.V114= Synonymous 1/2 - 1
1-27240090-C-G c.342G>C p.V114= Synonymous 1/2 - 1
1-27240090-C-T c.342G>A p.V114= Synonymous 1/2 - 1
1-27240091-A-G c.341T>C p.V114A Missense 1/2 - 1
1-27240093-C-T c.339G>A p.P113= Synonymous 1/2 - 2
1-27240101-C-G c.331G>C p.E111Q Missense 1/2 - 1
1-27240106-A-G c.326T>C p.V109A Missense 1/2 - 1
1-27240109-T-C c.323A>G p.E108G Missense 1/2 - 1
1-27240110-C-T c.322G>A p.E108K Missense 1/2 - 1
1-27240111-A-T c.321T>A p.F107L Missense 1/2 - 2
1-27240113-A-C c.319T>G p.F107V Missense 1/2 - 1
1-27240113-A-G c.319T>C p.F107L Missense 1/2 - 2
1-27240117-CAC-ACA c.313_315delinsTGT p.V105C Missense 1/2 - 1
1-27240118-A-C c.314T>G p.V105G Missense 1/2 - 2
1-27240122-C-G c.310G>C p.A104P Missense 1/2 - 1
1-27240126-T-C c.306A>G p.Q102= Synonymous 1/2 - 1
1-27240128-G-A c.304C>T p.Q102* Nonsense 1/2 - 1
1-27240132-CAACCCAAG-GT c.292_300delinsAC p.L98Tfs*6 Frameshift 1/2 - 1
1-27240133-AA-TC c.298_299delinsGA p.L100E Missense 1/2 - 1
1-27240138-AAG-CCA c.292_294delinsTGG p.L98W Missense 1/2 - 1
1-27240140-G-A c.292C>T p.L98F Missense 1/2 - 2
1-27240140-G-T c.292C>A p.L98I Missense 1/2 - 2
1-27240141-C-G c.291G>C p.L97= Synonymous 1/2 - 1
1-27240142-A-C c.290T>G p.L97R Missense 1/2 - 1
1-27240145-AA-GC c.286_287delinsGC p.F96A Missense 1/2 - 1
1-27240144-G-C c.288C>G p.F96L Missense 1/2 - 2
1-27240144-G-T c.288C>A p.F96L Missense 1/2 - 1
1-27240146-A-G c.286T>C p.F96L Missense 1/2 - 1
1-27240149-G-A c.283C>T p.L95F Missense 1/2 - 1
1-27240151-G-A c.281C>T p.P94L Missense 1/2 - 3
1-27240151-G-T c.281C>A p.P94H Missense 1/2 - 1
1-27240154-C-A c.278G>T p.G93V Missense 1/2 - 1
1-27240154-C-G c.278G>C p.G93A Missense 1/2 - 4
1-27240154-C-T c.278G>A p.G93D Missense 1/2 - 4
1-27240157-CA-GC c.274_275delinsGC p.W92A Missense 1/2 - 1
1-27240160-C-G c.272G>C p.C91S Missense 1/2 - 1
1-27240161-A-T c.271T>A p.C91S Missense 1/2 - 1
1-27240167-G-A c.265C>T p.Q89* Nonsense 1/2 - 2
1-27240171-C-A c.261G>T p.L87= Synonymous 1/2 - 1
1-27240171-C-G c.261G>C p.L87= Synonymous 1/2 - 1
1-27240171-C-T c.261G>A p.L87= Synonymous 1/2 - 1
1-27240173-G-A c.259C>T p.L87= Synonymous 1/2 - 2
1-27240172-A-C c.260T>G p.L87R Missense 1/2 - 1
1-27240174-C-CG c.257_258insC p.L87Afs*22 Frameshift 1/2 - 1
1-27240175-C-A c.257G>T p.R86L Missense 1/2 - 1
1-27240175-CG-GC c.256_257delinsGC p.R86A Missense 1/2 - 1
1-27240176-G-A c.256C>T p.R86W Missense 1/2 - 6
1-27240177-C-T c.255G>A p.R85= Synonymous 1/2 - 1
1-27240179-G-A c.253C>T p.R85W Missense 1/2 - 2
1-27240180-C-T c.252G>A p.Q84= Synonymous 1/2 - 1
1-27240183-G-T c.249C>A p.D83E Missense 1/2 - 1
1-27240184-TC-AA c.247_248delinsTT p.D83F Missense 1/2 - 1
1-27240186-C-T c.246G>A p.Q82= Synonymous 1/2 - 2
1-27240192-A-C c.240T>G p.P80= Synonymous 1/2 - 1
1-27240192-A-G c.240T>C p.P80= Synonymous 1/2 - 1
1-27240192-A-T c.240T>A p.P80= Synonymous 1/2 - 1
1-27240193-G-C c.239C>G p.P80R Missense 1/2 - 1
1-27240194-G-A c.238C>T p.P80S Missense 1/2 - 6
1-27240198-C-T c.234G>A p.Q78= Synonymous 1/2 - 1
1-27240199-T-A c.233A>T p.Q78L Missense 1/2 - 1
1-27240202-CAGA-C c.227_229del p.F76del InFrameDeletion 1/2 - 1
1-27240204-GA-G c.227del p.F76Sfs*30 Frameshift 1/2 - 1
1-27240211-G-C c.221C>G p.P74R Missense 1/2 - 1
1-27240213-C-A c.219G>T p.L73= Synonymous 1/2 - 1
1-27240213-C-G c.219G>C p.L73= Synonymous 1/2 - 1
1-27240213-C-T c.219G>A p.L73= Synonymous 1/2 - 2
1-27240215-G-A c.217C>T p.L73= Synonymous 1/2 - 1
1-27240216-G-A c.216C>T p.N72= Synonymous 1/2 - 1
1-27240216-G-T c.216C>A p.N72K Missense 1/2 - 3
1-27240221-T-C c.211A>G p.R71G Missense 1/2 - 1
1-27240229-G-A c.203C>T p.A68V Missense 1/2 - 1
1-27240231-C-T c.201G>A p.V67= Synonymous 1/2 - 1
1-27240233-C-T c.199G>A p.V67M Missense 1/2 - 4
1-27240237-C-T c.195G>A p.K65= Synonymous 1/2 - 2
1-27240240-GG-CT c.191_192delinsAG p.A64E Missense 1/2 - 1
1-27240242-C-T c.190G>A p.A64T Missense 1/2 - 1
1-27240248-C-T c.184G>A p.V62I Missense 1/2 - 1
1-27240250-T-C c.182A>G p.D61G Missense 1/2 - 3
1-27240250-T-G c.182A>C p.D61A Missense 1/2 - 3
1-27240255-G-A c.177C>T p.A59= Synonymous 1/2 - 1
1-27240255-G-C c.177C>G p.A59= Synonymous 1/2 - 1
1-27240255-GGC-CTT c.175_177delinsAAG p.A59K Missense 1/2 - 1
1-27240255-G-T c.177C>A p.A59= Synonymous 1/2 - 1
1-27240257-C-G c.175G>C p.A59P Missense 1/2 - 1
1-27240262-CG-TT c.169_170delinsAA p.R57K Missense 1/2 - 2
1-27240262-C-T c.170G>A p.R57Q Missense 1/2 - 3
1-27240263-G-A c.169C>T p.R57W Missense 1/2 - 6
1-27240263-G-T c.169C>A p.R57= Synonymous 1/2 - 2
1-27240268-G-A c.164C>T p.T55I Missense 1/2 - 1
1-27240268-GT-TC c.163_164delinsGA p.T55D Missense 1/2 - 2
1-27240269-T-C c.163A>G p.T55A Missense 1/2 - 6
1-27240271-CG-GC c.160_161delinsGC p.R54A Missense 1/2 - 1
1-27240271-C-T c.161G>A p.R54H Missense 1/2 - 1
1-27240265-CAGGTGCGATG-C c.157_166del p.H53Afs*50 Frameshift 1/2 - 5
1-27240272-G-A c.160C>T p.R54C Missense 1/2 - 4
1-27240274-T-C c.158A>G p.H53R Missense 1/2 - 2
1-27240274-T-G c.158A>C p.H53P Missense 1/2 - 1
1-27240275-G-C c.157C>G p.H53D Missense 1/2 - 7
1-27240277-G-A c.155C>T p.P52L Missense 1/2 - 1
1-27240277-G-C c.155C>G p.P52R Missense 1/2 - 2
1-27240279-TGC-ACA c.151_153delinsTGT p.A51C Missense 1/2 - 1
1-27240280-G-C c.152C>G p.A51G Missense 1/2 - 1
1-27240282-A-G c.150T>C p.C50= Synonymous 1/2 - 4
1-27240284-A-G c.148T>C p.C50R Missense 1/2 - 1
1-27240286-A-C c.146T>G p.L49R Missense 1/2 - 2
1-27240287-G-T c.145C>A p.L49I Missense 1/2 - 2
1-27240293-C-T c.139G>A p.V47I Missense 1/2 - 1
1-27240295-G-A c.137C>T p.P46L Missense 1/2 - 3
1-27240298-C-G c.134G>C p.R45P Missense 1/2 - 5
1-27240298-C-T c.134G>A p.R45Q Missense 1/2 - 1
1-27240297-C-A c.135G>T p.R45= Synonymous 1/2 - 1
1-27240297-C-G c.135G>C p.R45= Synonymous 1/2 - 1
1-27240297-C-T c.135G>A p.R45= Synonymous 1/2 - 1
1-27240299-G-A c.133C>T p.R45W Missense 1/2 - 3
1-27240299-G-T c.133C>A p.R45= Synonymous 1/2 - 1
1-27240303-C-A c.129G>T p.Q43H Missense 1/2 - 1
1-27240303-C-G c.129G>C p.Q43H Missense 1/2 - 1
1-27240306-C-T c.126G>A p.R42= Synonymous 1/2 - 1
1-27240308-T-G c.124A>C p.R42= Synonymous 1/2 - 1
1-27240309-A-C c.123T>G p.C41W Missense 1/2 - 1
1-27240309-A-G c.123T>C p.C41= Synonymous 1/2 - 1
1-27240311-A-G c.121T>C p.C41R Missense 1/2 - 2
1-27240319-C-G c.113G>C p.R38P Missense 1/2 - 1
1-27240319-C-T c.113G>A p.R38H Missense 1/2 - 4
1-27240320-G-A c.112C>T p.R38C Missense 1/2 - 3
1-27240322-C-T c.110G>A p.S37N Missense 1/2 - 1
1-27240322-CT-GC c.109_110delinsGC p.S37A Missense 1/2 - 2
1-27240324-A-C c.108T>G p.R36= Synonymous 1/2 - 1
1-27240324-A-G c.108T>C p.R36= Synonymous 1/2 - 1
1-27240324-A-T c.108T>A p.R36= Synonymous 1/2 - 1
1-27240325-C-A c.107G>T p.R36L Missense 1/2 - 4
1-27240325-C-T c.107G>A p.R36H Missense 1/2 - 1
1-27240326-G-A c.106C>T p.R36C Missense 1/2 - 5
1-27240326-G-C c.106C>G p.R36G Missense 1/2 - 1
1-27240328-G-A c.104C>T p.P35L Missense 1/2 - 1
1-27240329-G-A c.103C>T p.P35S Missense 1/2 - 2
1-27240331-CG-GC c.100_101delinsGC p.R34A Missense 1/2 - 1
1-27240331-C-T c.101G>A p.R34Q Missense 1/2 - 1
1-27240332-G-A c.100C>T p.R34* Nonsense 1/2 - 11
1-27240332-G-C c.100C>G p.R34G Missense 1/2 - 5
1-27240334-G-A c.98C>T p.P33L Missense 1/2 - 1
1-27240339-A-C c.93T>G p.A31= Synonymous 1/2 - 1
1-27240339-A-G c.93T>C p.A31= Synonymous 1/2 - 1
1-27240339-A-T c.93T>A p.A31= Synonymous 1/2 - 1
1-27240340-G-C c.92C>G p.A31G Missense 1/2 - 1
1-27240341-C-G c.91G>C p.A31P Missense 1/2 - 1
1-27240341-C-T c.91G>A p.A31T Missense 1/2 - 2
1-27240343-TT-GC c.88_89delinsGC p.K30A Missense 1/2 - 1
1-27240346-A-G c.86T>C p.L29P Missense 1/2 - 1
1-27240349-CT-GC c.82_83delinsGC p.S28A Missense 1/2 - 1
1-27240353-GA-G c.79del p.S27Pfs*79 Frameshift 1/2 - 1
1-27240355-CT-GC c.76_77delinsGC p.S26A Missense 1/2 - 3
1-27240355-CT-TC c.76_77delinsGA p.S26D Missense 1/2 - 1
1-27240361-A-G c.71T>C p.L24P Missense 1/2 - 1
1-27240363-T-C c.69A>G p.A23= Synonymous 1/2 - 1
1-27240366-G-A c.66C>T p.Y22= Synonymous 1/2 - 3
1-27240369-G-T c.63C>A p.L21= Synonymous 1/2 - 1
1-27240372-A-G c.60T>C p.I20= Synonymous 1/2 - 1
1-27240372-A-T c.60T>A p.I20= Synonymous 1/2 - 1
1-27240374-T-G c.58A>C p.I20L Missense 1/2 - 1
1-27240375-G-A c.57C>T p.A19= Synonymous 1/2 - 1
1-27240375-G-C c.57C>G p.A19= Synonymous 1/2 - 1
1-27240375-G-T c.57C>A p.A19= Synonymous 1/2 - 1
1-27240376-G-C c.56C>G p.A19G Missense 1/2 - 1
1-27240376-GC-AA c.55_56delinsTT p.A19F Missense 1/2 - 2
1-27240376-GC-TT c.55_56delinsAA p.A19N Missense 1/2 - 1
1-27240376-G-T c.56C>A p.A19D Missense 1/2 - 2
1-27240377-C-G c.55G>C p.A19P Missense 1/2 - 1
1-27240381-GCG-CTC c.49_51delinsGAG p.R17E Missense 1/2 - 1
1-27240382-C-T c.50G>A p.R17H Missense 1/2 - 2
1-27240384-G-A c.48C>T p.S16= Synonymous 1/2 - 1
1-27240385-CT-GC c.46_47delinsGC p.S16A Missense 1/2 - 1
1-27240385-CT-TC c.46_47delinsGA p.S16D Missense 1/2 - 2
1-27240386-T-A c.46A>T p.S16C Missense 1/2 - 1
1-27240388-G-T c.44C>A p.A15E Missense 1/2 - 1
1-27240391-GC-CA c.40_41delinsTG p.A14C Missense 1/2 - 1
1-27240393-TCC-ATG c.37_39delinsCAT p.G13H Missense 1/2 - 1
1-27240395-C-A c.37G>T p.G13* Nonsense 1/2 - 1
1-27240395-C-G c.37G>C p.G13R Missense 1/2 - 3
1-27240395-C-T c.37G>A p.G13R Missense 1/2 - 4
1-27240396-C-T c.36G>A p.Q12= Synonymous 1/2 - 1
1-27240398-G-C c.34C>G p.Q12E Missense 1/2 - 1
1-27240399-G-A c.33C>T p.C11= Synonymous 1/2 - 1
1-27240400-C-G c.32G>C p.C11S Missense 1/2 - 2
1-27240401-A-T c.31T>A p.C11S Missense 1/2 - 2
1-27240403-G-A c.29C>T p.P10L Missense 1/2 - 1
1-27240404-G-A c.28C>T p.P10S Missense 1/2 - 1
1-27240412-C-T c.20G>A p.G7E Missense 1/2 - 2
1-27240417-T-C c.15A>G p.Q5= Synonymous 1/2 - 1
1-27240419-G-A c.13C>T p.Q5* Nonsense 1/2 - 1
1-27240419-G-C c.13C>G p.Q5E Missense 1/2 - 3
1-27240421-C-T c.11G>A p.S4N Missense 1/2 - 1
1-27240423-G-A c.9C>T p.T3= Synonymous 1/2 - 1
1-27240423-G-C c.9C>G p.T3= Synonymous 1/2 - 1
1-27240423-G-T c.9C>A p.T3= Synonymous 1/2 - 1
1-27240426-G-A c.6C>T p.S2= Synonymous 1/2 - 2