GFI1

GFI1 growth factor independent 1 transcriptional repressor

Annotation transcript: NM_005263.5

528 unique variant annotations were identified in 309 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
1-92939835-A-T c.*1751T>A - IntergenicSNV 7/7 - 1
1-92939959-T-C c.*1627A>G - IntergenicSNV 7/7 - 6
1-92940094-C-G c.*1492G>C - IntergenicSNV 7/7 - 1
1-92940386-T-G c.*1200A>C - 3-UTRSNV 7/7 - 1
1-92940411-C-A c.*1175G>T - 3-UTRSNV 7/7 - 5
1-92940411-C-T c.*1175G>A - 3-UTRSNV 7/7 - 5
1-92940850-G-T c.*736C>A - 3-UTRSNV 7/7 - 3
1-92940954-G-A c.*632C>T - 3-UTRSNV 7/7 - 1
1-92940954-G-C c.*632C>G - 3-UTRSNV 7/7 - 1
1-92941357-A-G c.*229T>C - 3-UTRSNV 7/7 - 9
1-92941539-G-A c.*47C>T - 3-UTRSNV 7/7 - 1
1-92941587-C-T c.1268G>A p.*423= Synonymous 7/7 - 1
1-92941596-C-T c.1259G>A p.G420E Missense 7/7 - 1
1-92941604-C-A c.1251G>T p.T417= Synonymous 7/7 - 1
1-92941604-C-G c.1251G>C p.T417= Synonymous 7/7 - 1
1-92941604-C-T c.1251G>A p.T417= Synonymous 7/7 - 3
1-92941605-G-A c.1250C>T p.T417M Missense 7/7 - 8
1-92941611-C-T c.1244G>A p.R415Q Missense 7/7 - 2
1-92941612-G-A c.1243C>T p.R415W Missense 7/7 - 5
1-92941614-T-A c.1241A>T p.H414L Missense 7/7 - 1
1-92941615-G-T c.1240C>A p.H414N Missense 7/7 - 1
1-92941619-TC-AT c.1235_1236delinsAT p.R412H Missense 7/7 - 1
1-92941620-C-T c.1235G>A p.R412Q Missense 7/7 - 3
1-92941621-G-A c.1234C>T p.R412* Nonsense 7/7 - 4
1-92941627-C-T c.1228G>A p.D410N Missense 7/7 - 2
1-92941628-C-T c.1227G>A p.V409= Synonymous 7/7 - 1
1-92941630-C-A c.1225G>T p.V409L Missense 7/7 - 1
1-92941630-C-G c.1225G>C p.V409L Missense 7/7 - 1
1-92941635-C-A c.1220G>T p.R407M Missense 7/7 - 1
1-92941645-C-G c.1210G>C p.G404R Missense 7/7 - 1
1-92941645-C-T c.1210G>A p.G404S Missense 7/7 - 1
1-92941646-C-A c.1209G>T p.K403N Missense 7/7 - 2
1-92941646-C-G c.1209G>C p.K403N Missense 7/7 - 1
1-92941646-C-T c.1209G>A p.K403= Synonymous 7/7 - 1
1-92941647-T-C c.1208A>G p.K403R Missense 7/7 - 16
1-92941650-C-A c.1205G>T p.G402V Missense 7/7 - 2
1-92941650-C-T c.1205G>A p.G402E Missense 7/7 - 1
1-92941651-C-G c.1204G>C p.G402R Missense 7/7 - 1
1-92941651-C-T c.1204G>A p.G402R Missense 7/7 - 1
1-92941654-A-G c.1201T>C p.C401R Missense 7/7 - 2
1-92941655-G-A c.1200C>T p.L400= Synonymous 7/7 - 2
1-92941655-G-C c.1200C>G p.L400= Synonymous 7/7 - 2
1-92941655-G-T c.1200C>A p.L400= Synonymous 7/7 - 2
1-92941657-G-A c.1198C>T p.L400F Missense 7/7 - 6
1-92941660-C-A c.1195G>T p.D399Y Missense 7/7 - 1
1-92941661-G-A c.1194C>T p.C398= Synonymous 7/7 - 2
1-92941665-C-T c.1190G>A p.G397D Missense 7/7 - 1
1-92941667-G-T c.1188C>A p.F396L Missense 7/7 - 5
1-92941667-G-C c.1188C>G p.F396L Missense 7/7 - 3
1-92941669-A-G c.1186T>C p.F396L Missense 7/7 - 3
1-92941671-G-A c.1184C>T p.P395L Missense 7/7 - 1
1-92941682-T-A c.1173A>T p.T391= Synonymous 7/7 - 1
1-92941682-T-C c.1173A>G p.T391= Synonymous 7/7 - 1
1-92941682-T-G c.1173A>C p.T391= Synonymous 7/7 - 1
1-92941683-G-A c.1172C>T p.T391I Missense 7/7 - 2
1-92941692-C-A c.1163G>T p.R388L Missense 7/7 - 1
1-92941692-C-T c.1163G>A p.R388H Missense 7/7 - 3
1-92941693-G-A c.1162C>T p.R388C Missense 7/7 - 2
1-92941693-G-T c.1162C>A p.R388S Missense 7/7 - 1
1-92941696-T-C c.1159A>G p.S387G Missense 7/7 - 1
1-92941698-T-G c.1157A>C p.H386P Missense 7/7 - 1
1-92941700-G-A c.1155C>T p.T385= Synonymous 7/7 - 1
1-92941700-G-C c.1155C>G p.T385= Synonymous 7/7 - 1
1-92941700-G-T c.1155C>A p.T385= Synonymous 7/7 - 1
1-92941701-G-C c.1154C>G p.T385S Missense 7/7 - 1
1-92941702-T-G c.1153A>C p.T385P Missense 7/7 - 1
1-92941706-G-A c.1149C>T p.L383= Synonymous 7/7 - 2
1-92941706-G-C c.1149C>G p.L383= Synonymous 7/7 - 1
1-92941706-G-T c.1149C>A p.L383= Synonymous 7/7 - 1
1-92941708-G-A c.1147C>T p.L383F Missense 7/7 - 1
1-92941710-T-C c.1145A>G p.N382S Missense 7/7 - 24
1-92941711-T-G c.1144A>C p.N382H Missense 7/7 - 1
1-92941716-CT-GC c.1138_1139delinsGC p.S380A Missense 7/7 - 1
1-92941718-C-A c.1137G>T p.Q379H Missense 7/7 - 2
1-92941719-TG-GC c.1135_1136delinsGC p.Q379A Missense 7/7 - 1
1-92941724-G-A c.1131C>T p.F377= Synonymous 7/7 - 3
1-92941724-G-C c.1131C>G p.F377L Missense 7/7 - 4
1-92941724-G-T c.1131C>A p.F377L Missense 7/7 - 2
1-92941726-A-G c.1129T>C p.F377L Missense 7/7 - 2
1-92941729-C-T c.1126G>A p.A376T Missense 7/7 - 1
1-92941735-C-G c.1120G>C p.G374R Missense 7/7 - 1
1-92941735-C-T c.1120G>A p.G374S Missense 7/7 - 4
1-92941740-A-C c.1115T>G p.V372G Missense 7/7 - 1
1-92941740-A-G c.1115T>C p.V372A Missense 7/7 - 1
1-92941741-C-A c.1114G>T p.V372L Missense 7/7 - 1
1-92941741-C-G c.1114G>C p.V372L Missense 7/7 - 1
1-92941753-G-A c.1102C>T p.H368Y Missense 7/7 - 1
1-92941758-T-A c.1097A>T p.K366M Missense 7/7 - 3
1-92941763-A-C c.1092T>G p.G364= Synonymous 7/7 - 1
1-92941763-A-G c.1092T>C p.G364= Synonymous 7/7 - 1
1-92941763-A-T c.1092T>A p.G364= Synonymous 7/7 - 1
1-92941764-C-T c.1091G>A p.G364D Missense 7/7 - 3
1-92942352-G-A c.1091-588C>T - IntronicSNV - 6/6 1
1-92942466-G-A c.1091-702C>T - IntronicSNV - 6/6 1
1-92942801-G-A c.1091-1037C>T - IntronicSNV - 6/6 1
1-92944145-C-T c.1090G>A p.G364S Missense 6/7 - 1
1-92944148-T-C c.1087A>G p.T363A Missense 6/7 - 1
1-92944149-G-A c.1086C>T p.H362= Synonymous 6/7 - 1
1-92944151-G-A c.1084C>T p.H362Y Missense 6/7 - 1
1-92944151-G-T c.1084C>A p.H362N Missense 6/7 - 3
1-92944152-G-T c.1083C>A p.I361= Synonymous 6/7 - 1
1-92944155-G-C c.1080C>G p.F360L Missense 6/7 - 2
1-92944155-G-T c.1080C>A p.F360L Missense 6/7 - 1
1-92944157-A-G c.1078T>C p.F360L Missense 6/7 - 1
1-92944165-TT-GC c.1069_1070delinsGC p.K357A Missense 6/7 - 1
1-92944171-A-G c.1064T>C p.M355T Missense 6/7 - 1
1-92944174-T-G c.1061A>C p.D354A Missense 6/7 - 1
1-92944175-C-T c.1060G>A p.D354N Missense 6/7 - 1
1-92944182-C-A c.1053G>T p.Q351H Missense 6/7 - 1
1-92944182-C-G c.1053G>C p.Q351H Missense 6/7 - 2
1-92944185-G-A c.1050C>T p.H350= Synonymous 6/7 - 1
1-92944188-G-A c.1047C>T p.F349= Synonymous 6/7 - 3
1-92944191-C-A c.1044G>T p.R348S Missense 6/7 - 1
1-92944192-C-A c.1043G>T p.R348M Missense 6/7 - 1
1-92944198-C-A c.1037G>T p.G346V Missense 6/7 - 1
1-92944198-C-T c.1037G>A p.G346D Missense 6/7 - 2
1-92944203-G-A c.1032C>T p.Y344= Synonymous 6/7 - 1
1-92944214-G-A c.1021C>T p.P341S Missense 6/7 - 1
1-92944220-G-A c.1015C>T p.P339S Missense 6/7 - 1
1-92944222-C-T c.1013G>A p.R338Q Missense 6/7 - 2
1-92944226-T-C c.1009A>G p.T337A Missense 6/7 - 1
1-92944229-C-T c.1006G>A p.D336N Missense 6/7 - 2
1-92944231-G-A c.1004C>T p.S335L Missense 6/7 - 1
1-92944231-G-C c.1004C>G p.S335* Nonsense 6/7 - 1
1-92944245-G-T c.990C>A p.H330Q Missense 6/7 - 1
1-92944246-T-G c.989A>C p.H330P Missense 6/7 - 2
1-92944249-G-A c.986C>T p.T329I Missense 6/7 - 1
1-92944259-T-C c.976A>G p.T326A Missense 6/7 - 2
1-92944268-T-G c.967A>C p.R323= Synonymous 6/7 - 1
1-92944270-T-C c.965A>G p.K322R Missense 6/7 - 1
1-92944272-G-A c.963C>T p.F321= Synonymous 6/7 - 1
1-92944274-A-G c.961T>C p.F321L Missense 6/7 - 1
1-92944275-G-C c.960C>G p.S320R Missense 6/7 - 1
1-92944275-G-T c.960C>A p.S320R Missense 6/7 - 1
1-92944277-T-G c.958A>C p.S320R Missense 6/7 - 1
1-92944279-T-G c.956A>C p.K319T Missense 6/7 - 2
1-92944283-C-T c.952G>A p.G318R Missense 6/7 - 1
1-92944285-C-G c.950G>C p.C317S Missense 6/7 - 1
1-92944286-A-T c.949T>A p.C317S Missense 6/7 - 1
1-92944294-C-G c.941G>C p.C314S Missense 6/7 - 1
1-92944298-C-G c.937G>C p.D313H Missense 6/7 - 1
1-92944298-C-T c.937G>A p.D313N Missense 6/7 - 3
1-92944303-C-T c.932G>A p.S311N Missense 6/7 - 1
1-92944306-C-T c.929G>A p.R310Q Missense 6/7 - 1
1-92944307-G-A c.928C>T p.R310W Missense 6/7 - 2
1-92944310-C-G c.925G>C p.E309Q Missense 6/7 - 1
1-92944310-C-T c.925G>A p.E309K Missense 6/7 - 1
1-92944314-C-CGAGAGAGA c.925-5_925-4insTCTCTCTC - IntronicInsertion - 5/6 8
1-92944994-A-G c.925-684T>C - IntronicSNV - 5/6 3
1-92945507-T-C c.924+398A>G - IntronicSNV - 5/6 1
1-92945838-T-G c.924+67A>C - IntronicSNV - 5/6 1
1-92945898-C-T c.924+7G>A - IntronicSNV - 5/6 1
1-92945909-G-A c.920C>T p.S307L Missense 5/7 - 1
1-92945913-G-A c.916C>T p.H306Y Missense 5/7 - 1
1-92945916-C-T c.913G>A p.V305M Missense 5/7 - 1
1-92945924-T-C c.905A>G p.H302R Missense 5/7 - 3
1-92945925-G-A c.904C>T p.H302Y Missense 5/7 - 1
1-92945938-C-A c.891G>T p.V297= Synonymous 5/7 - 1
1-92945938-CAC-AAA c.889_891delinsTTT p.V297F Missense 5/7 - 1
1-92945938-C-G c.891G>C p.V297= Synonymous 5/7 - 1
1-92945938-C-T c.891G>A p.V297= Synonymous 5/7 - 1
1-92945940-C-A c.889G>T p.V297L Missense 5/7 - 1
1-92945943-C-A c.886G>T p.A296S Missense 5/7 - 1
1-92945945-TG-GC c.883_884delinsGC p.H295A Missense 5/7 - 1
1-92945949-C-G c.880G>C p.G294R Missense 5/7 - 2
1-92945949-C-T c.880G>A p.G294R Missense 5/7 - 5
1-92945960-C-T c.869G>A p.G290D Missense 5/7 - 1
1-92945963-C-G c.866G>C p.C289S Missense 5/7 - 1
1-92945964-A-T c.865T>A p.C289S Missense 5/7 - 1
1-92945969-T-C c.860A>G p.E287G Missense 5/7 - 1
1-92945969-T-G c.860A>C p.E287A Missense 5/7 - 3
1-92945971-G-A c.858C>T p.C286= Synonymous 5/7 - 1
1-92945972-C-T c.857G>A p.C286Y Missense 5/7 - 1
1-92945975-G-A c.854C>T p.A285V Missense 5/7 - 1
1-92945984-C-T c.845G>A p.R282K Missense 5/7 - 3
1-92945988-T-C c.841A>G p.T281A Missense 5/7 - 1
1-92945991-C-T c.838G>A p.G280S Missense 5/7 - 2
1-92945993-C-A c.836G>T p.S279I Missense 5/7 - 1
1-92945993-C-T c.836G>A p.S279N Missense 5/7 - 1
1-92945996-T-G c.833A>C p.H278P Missense 5/7 - 2
1-92945998-G-T c.831C>A p.S277= Synonymous 5/7 - 1
1-92945999-G-C c.830C>G p.S277C Missense 5/7 - 1
1-92946002-C-A c.827G>T p.R276M Missense 5/7 - 1
1-92946006-G-A c.823C>T p.R275C Missense 5/7 - 3
1-92946006-G-T c.823C>A p.R275S Missense 5/7 - 1
1-92946010-G-A c.819C>T p.H273= Synonymous 5/7 - 1
1-92946015-C-A c.814G>T p.V272L Missense 5/7 - 1
1-92946018-C-A c.811G>T p.E271* Nonsense 5/7 - 1
1-92946018-C-G c.811G>C p.E271Q Missense 5/7 - 1
1-92946019-G-C c.810C>G p.L270= Synonymous 5/7 - 2
1-92946021-G-T c.808C>A p.L270I Missense 5/7 - 1
1-92946028-C-A c.801G>T p.P267= Synonymous 5/7 - 1
1-92946028-C-G c.801G>C p.P267= Synonymous 5/7 - 1
1-92946028-C-T c.801G>A p.P267= Synonymous 5/7 - 1
1-92946030-G-C c.799C>G p.P267A Missense 5/7 - 1
1-92946037-AG-A c.792del p.S265Pfs*33 Frameshift 5/7 - 1
1-92946037-G-A c.792C>T p.F264= Synonymous 5/7 - 2
1-92946040-C-A c.789G>T p.V263= Synonymous 5/7 - 1
1-92946162-C-A c.782G>T p.S261I Missense 4/7 - 2
1-92946168-T-C c.776A>G p.K259R Missense 4/7 - 1
1-92946170-G-A c.774C>T p.I258= Synonymous 4/7 - 1
1-92946170-G-T c.774C>A p.I258= Synonymous 4/7 - 1
1-92946175-A-T c.769T>A p.C257S Missense 4/7 - 1
1-92946176-C-T c.768G>A p.K256= Synonymous 4/7 - 2
1-92946183-G-A c.761C>T p.S254F Missense 4/7 - 2
1-92946193-C-G c.751G>C p.G251R Missense 4/7 - 1
1-92946203-G-A c.741C>T p.R247= Synonymous 4/7 - 2
1-92946203-G-C c.741C>G p.R247= Synonymous 4/7 - 1
1-92946203-G-T c.741C>A p.R247= Synonymous 4/7 - 1
1-92946204-C-A c.740G>T p.R247L Missense 4/7 - 3
1-92946204-C-T c.740G>A p.R247H Missense 4/7 - 1
1-92946205-G-A c.739C>T p.R247C Missense 4/7 - 1
1-92946207-G-C c.737C>G p.T246S Missense 4/7 - 1
1-92946208-T-A c.736A>T p.T246S Missense 4/7 - 1
1-92946208-T-C c.736A>G p.T246A Missense 4/7 - 1
1-92946218-C-T c.726G>A p.E242= Synonymous 4/7 - 1
1-92946220-C-A c.724G>T p.E242* Nonsense 4/7 - 1
1-92946220-C-G c.724G>C p.E242Q Missense 4/7 - 1
1-92946222-G-C c.722C>G p.S241W Missense 4/7 - 1
1-92946223-A-G c.721T>C p.S241P Missense 4/7 - 1
1-92946226-C-G c.718G>C p.E240Q Missense 4/7 - 2
1-92946234-A-G c.710T>C p.V237A Missense 4/7 - 1
1-92946235-C-G c.709G>C p.V237L Missense 4/7 - 1
1-92946238-C-A c.706G>T p.G236C Missense 4/7 - 1
1-92946240-G-A c.704C>T p.A235V Missense 4/7 - 1
1-92946241-C-A c.703G>T p.A235S Missense 4/7 - 1
1-92946242-G-A c.702C>T p.G234= Synonymous 4/7 - 1
1-92946244-C-T c.700G>A p.G234S Missense 4/7 - 1
1-92946250-C-A c.694G>T p.D232Y Missense 4/7 - 1
1-92946252-G-C c.692C>G p.A231G Missense 4/7 - 1
1-92946253-C-T c.691G>A p.A231T Missense 4/7 - 1
1-92946261-C-T c.683G>A p.G228E Missense 4/7 - 2
1-92946262-C-A c.682G>T p.G228W Missense 4/7 - 1
1-92946267-C-T c.677G>A p.G226D Missense 4/7 - 1
1-92946268-C-T c.676G>A p.G226S Missense 4/7 - 1
1-92946270-C-T c.674G>A p.R225H Missense 4/7 - 2
1-92946272-C-A c.672G>T p.E224D Missense 4/7 - 1
1-92946272-C-G c.672G>C p.E224D Missense 4/7 - 1
1-92946274-C-G c.670G>C p.E224Q Missense 4/7 - 1
1-92946275-GG-TT c.668_669delinsAA p.P223Q Missense 4/7 - 1
1-92946282-AG-TT c.661_662delinsAA p.L221K Missense 4/7 - 1
1-92946285-AA-CT c.658_659delinsAG p.L220R Missense 4/7 - 1
1-92946289-C-G c.655G>C p.G219R Missense 4/7 - 2
1-92946296-T-C c.648A>G p.A216= Synonymous 4/7 - 1
1-92946300-G-A c.644C>T p.T215M Missense 4/7 - 1
1-92946301-T-C c.643A>G p.T215A Missense 4/7 - 1
1-92946304-G-A c.640C>T p.P214S Missense 4/7 - 1
1-92946306-C-T c.638G>A p.R213K Missense 4/7 - 1
1-92946306-CT-GG c.637_638delinsCC p.R213P Missense 4/7 - 1
1-92946309-T-C c.635A>G p.E212G Missense 4/7 - 1
1-92946312-T-A c.632A>T p.Y211F Missense 4/7 - 1
1-92946315-A-G c.629T>C p.L210P Missense 4/7 - 1
1-92946319-C-A c.625G>T p.G209W Missense 4/7 - 1
1-92946326-C-A c.618G>T p.A206= Synonymous 4/7 - 1
1-92946326-C-G c.618G>C p.A206= Synonymous 4/7 - 1
1-92946326-C-T c.618G>A p.A206= Synonymous 4/7 - 1
1-92946327-G-A c.617C>T p.A206V Missense 4/7 - 1
1-92946328-C-T c.616G>A p.A206T Missense 4/7 - 1
1-92946331-A-G c.613T>C p.S205P Missense 4/7 - 1
1-92946333-C-G c.611G>C p.G204A Missense 4/7 - 1
1-92946334-C-A c.610G>T p.G204W Missense 4/7 - 2
1-92946334-C-G c.610G>C p.G204R Missense 4/7 - 1
1-92946334-C-T c.610G>A p.G204R Missense 4/7 - 1
1-92946335-G-A c.609C>T p.F203= Synonymous 4/7 - 1
1-92946339-T-A c.605A>T p.D202V Missense 4/7 - 1
1-92946340-C-CA c.603_604insT p.D202* Nonsense 4/7 - 1
1-92946340-C-T c.604G>A p.D202N Missense 4/7 - 1
1-92946341-G-A c.603C>T p.G201= Synonymous 4/7 - 2
1-92946341-G-C c.603C>G p.G201= Synonymous 4/7 - 1
1-92946341-G-T c.603C>A p.G201= Synonymous 4/7 - 1
1-92946344-G-A c.600C>T p.Y200= Synonymous 4/7 - 1
1-92946352-C-T c.592G>A p.G198R Missense 4/7 - 1
1-92946353-TAG-AAA c.589_591delinsTTT p.L197F Missense 4/7 - 1
1-92946353-T-G c.591A>C p.L197= Synonymous 4/7 - 1
1-92946356-G-A c.588C>T p.G196= Synonymous 4/7 - 1
1-92946356-G-C c.588C>G p.G196= Synonymous 4/7 - 1
1-92946356-G-T c.588C>A p.G196= Synonymous 4/7 - 1
1-92946357-C-T c.587G>A p.G196D Missense 4/7 - 2
1-92946359-A-C c.585T>G p.P195= Synonymous 4/7 - 1
1-92946359-A-G c.585T>C p.P195= Synonymous 4/7 - 1
1-92946359-A-T c.585T>A p.P195= Synonymous 4/7 - 1
1-92946367-C-A c.577G>T p.A193S Missense 4/7 - 1
1-92946367-C-T c.577G>A p.A193T Missense 4/7 - 1
1-92946375-C-G c.569G>C p.G190A Missense 4/7 - 1
1-92946378-G-A c.566C>T p.A189V Missense 4/7 - 1
1-92946379-C-T c.565G>A p.A189T Missense 4/7 - 1
1-92946381-C-A c.563G>T p.G188V Missense 4/7 - 1
1-92946381-C-T c.563G>A p.G188E Missense 4/7 - 3
1-92946391-A-G c.553T>C p.C185R Missense 4/7 - 1
1-92946393-C-A c.551G>T p.S184I Missense 4/7 - 1
1-92946399-G-A c.545C>T p.P182L Missense 4/7 - 1
1-92946405-C-T c.539G>A p.G180E Missense 4/7 - 1
1-92946408-G-A c.536C>T p.A179V Missense 4/7 - 2
1-92946410-C-A c.534G>T p.G178= Synonymous 4/7 - 1
1-92946410-C-G c.534G>C p.G178= Synonymous 4/7 - 1
1-92946410-C-T c.534G>A p.G178= Synonymous 4/7 - 1
1-92946412-C-T c.532G>A p.G178R Missense 4/7 - 1
1-92946415-C-T c.529G>A p.A177T Missense 4/7 - 1
1-92946420-C-A c.524G>T p.G175V Missense 4/7 - 1
1-92946426-G-T c.518C>A p.A173D Missense 4/7 - 1
1-92946429-C-T c.515G>A p.R172Q Missense 4/7 - 1
1-92946433-T-C c.511A>G p.K171E Missense 4/7 - 1
1-92946433-TTCGGGCCGTACAGCGCG-T c.495_511del p.L167Gfs*40 Frameshift 4/7 - 1
1-92946438-C-A c.506G>T p.G169V Missense 4/7 - 1
1-92946438-C-G c.506G>C p.G169A Missense 4/7 - 1
1-92946438-C-T c.506G>A p.G169D Missense 4/7 - 1
1-92946441-T-G c.503A>C p.Y168S Missense 4/7 - 1
1-92946444-A-C c.500T>G p.L167R Missense 4/7 - 1
1-92946446-C-T c.498G>A p.A166= Synonymous 4/7 - 2
1-92946447-G-A c.497C>T p.A166V Missense 4/7 - 1
1-92946449-G-A c.495C>T p.A165= Synonymous 4/7 - 2
1-92946450-G-T c.494C>A p.A165D Missense 4/7 - 1
1-92946452-C-A c.492G>T p.P164= Synonymous 4/7 - 2
1-92946452-C-G c.492G>C p.P164= Synonymous 4/7 - 2
1-92946452-C-T c.492G>A p.P164= Synonymous 4/7 - 2
1-92946456-T-C c.488A>G p.H163R Missense 4/7 - 1
1-92946456-T-G c.488A>C p.H163P Missense 4/7 - 1
1-92946461-A-C c.483T>G p.P161= Synonymous 4/7 - 1
1-92946461-A-G c.483T>C p.P161= Synonymous 4/7 - 1
1-92946461-A-T c.483T>A p.P161= Synonymous 4/7 - 1
1-92946462-G-A c.482C>T p.P161L Missense 4/7 - 1
1-92946464-C-A c.480G>T p.E160D Missense 4/7 - 1
1-92946466-C-G c.478G>C p.E160Q Missense 4/7 - 1
1-92946468-G-A c.476C>T p.P159L Missense 4/7 - 1
1-92946469-G-A c.475C>T p.P159S Missense 4/7 - 1
1-92946471-G-C c.473C>G p.A158G Missense 4/7 - 1
1-92946473-G-A c.471C>T p.P157= Synonymous 4/7 - 1
1-92946473-G-C c.471C>G p.P157= Synonymous 4/7 - 1
1-92946473-G-T c.471C>A p.P157= Synonymous 4/7 - 1
1-92946474-G-A c.470C>T p.P157L Missense 4/7 - 1
1-92946474-G-C c.470C>G p.P157R Missense 4/7 - 1
1-92946476-T-G c.468A>C p.E156D Missense 4/7 - 1
1-92946479-G-A c.465C>T p.C155= Synonymous 4/7 - 18
1-92946480-C-T c.464G>A p.C155Y Missense 4/7 - 1
1-92946490-C-T c.454G>A p.G152S Missense 4/7 - 1
1-92946499-C-T c.445G>A p.A149T Missense 4/7 - 2
1-92946500-G-A c.444C>T p.G148= Synonymous 4/7 - 1
1-92946501-C-T c.443G>A p.G148D Missense 4/7 - 1
1-92946502-C-T c.442G>A p.G148S Missense 4/7 - 1
1-92946504-C-T c.440G>A p.R147H Missense 4/7 - 3
1-92946505-G-A c.439C>T p.R147C Missense 4/7 - 1
1-92946512-G-A c.432C>T p.A144= Synonymous 4/7 - 2
1-92946513-G-C c.431C>G p.A144G Missense 4/7 - 1
1-92946515-C-T c.429G>A p.G143= Synonymous 4/7 - 1
1-92946517-C-G c.427G>C p.G143R Missense 4/7 - 1
1-92946517-C-T c.427G>A p.G143R Missense 4/7 - 1
1-92946518-A-G c.426T>C p.C142= Synonymous 4/7 - 2
1-92946522-G-T c.422C>A p.P141Q Missense 4/7 - 1
1-92946525-C-G c.419G>C p.R140P Missense 4/7 - 2
1-92946525-CG-TT c.418_419delinsAA p.R140K Missense 4/7 - 1
1-92946526-G-A c.418C>T p.R140* Nonsense 4/7 - 5
1-92946528-T-C c.416A>G p.Y139C Missense 4/7 - 1
1-92946533-C-G c.411G>C p.Q137H Missense 4/7 - 1
1-92946534-T-C c.410A>G p.Q137R Missense 4/7 - 1
1-92946538-C-A c.406G>T p.V136L Missense 4/7 - 1
1-92946538-C-G c.406G>C p.V136L Missense 4/7 - 1
1-92946543-T-G c.401A>C p.H134P Missense 4/7 - 1
1-92946546-CG-TA c.397_398delinsTA p.R133* Nonsense 4/7 - 1
1-92946545-C-A c.399G>T p.R133= Synonymous 4/7 - 1
1-92946545-C-G c.399G>C p.R133= Synonymous 4/7 - 1
1-92946545-C-T c.399G>A p.R133= Synonymous 4/7 - 1
1-92946547-G-A c.397C>T p.R133W Missense 4/7 - 1
1-92946547-G-T c.397C>A p.R133= Synonymous 4/7 - 1
1-92946549-A-G c.395T>C p.L132P Missense 4/7 - 1
1-92946553-C-T c.391G>A p.D131N Missense 4/7 - 1
1-92946559-C-T c.385G>A p.G129S Missense 4/7 - 1
1-92946561-G-A c.383C>T p.A128V Missense 4/7 - 1
1-92946562-C-A c.382G>T p.A128S Missense 4/7 - 1
1-92946562-C-G c.382G>C p.A128P Missense 4/7 - 1
1-92946565-G-T c.379C>A p.L127M Missense 4/7 - 1
1-92946567-C-T c.377G>A p.G126D Missense 4/7 - 1
1-92946568-C-A c.376G>T p.G126C Missense 4/7 - 1
1-92946571-T-C c.373A>G p.S125G Missense 4/7 - 1
1-92946572-C-T c.372G>A p.W124* Nonsense 4/7 - 1
1-92946573-C-T c.371G>A p.W124* Nonsense 4/7 - 1
1-92946581-C-A c.363G>T p.P121= Synonymous 4/7 - 1
1-92946581-C-G c.363G>C p.P121= Synonymous 4/7 - 1
1-92946581-C-T c.363G>A p.P121= Synonymous 4/7 - 1
1-92946582-G-A c.362C>T p.P121L Missense 4/7 - 4
1-92946583-G-A c.361C>T p.P121S Missense 4/7 - 1
1-92946584-T-A c.360A>T p.K120N Missense 4/7 - 1
1-92946587-TG-T c.357del p.F119Lfs*79 Frameshift 4/7 - 1
1-92946592-G-A c.352C>T p.P118S Missense 4/7 - 1
1-92946593-C-A c.351G>T p.L117= Synonymous 4/7 - 1
1-92946598-G-T c.346C>A p.P116T Missense 4/7 - 1
1-92946600-A-T c.344T>A p.F115Y Missense 4/7 - 1
1-92946602-G-A c.342C>T p.P114= Synonymous 4/7 - 3
1-92946604-G-A c.340C>T p.P114S Missense 4/7 - 1
1-92946609-G-T c.335C>A p.A112D Missense 4/7 - 1
1-92946613-C-T c.331G>A p.E111K Missense 4/7 - 2
1-92946616-C-T c.328G>A p.D110N Missense 4/7 - 1
1-92946617-C-A c.327G>T p.L109= Synonymous 4/7 - 1
1-92946622-A-G c.322T>C p.S108P Missense 4/7 - 1
1-92946624-G-A c.320C>T p.P107L Missense 4/7 - 1
1-92946625-G-C c.319C>G p.P107A Missense 4/7 - 7
1-92946627-C-T c.317G>A p.C106Y Missense 4/7 - 1
1-92946629-C-A c.315G>T p.M105I Missense 4/7 - 2
1-92946629-C-G c.315G>C p.M105I Missense 4/7 - 2
1-92946629-C-T c.315G>A p.M105I Missense 4/7 - 2
1-92946635-C-G c.309G>C p.K103N Missense 4/7 - 1
1-92946639-T-C c.305A>G p.E102G Missense 4/7 - 1
1-92946641-CG-AA c.302_303delinsTT p.S101F Missense 4/7 - 1
1-92946641-C-T c.303G>A p.S101= Synonymous 4/7 - 3
1-92946642-G-A c.302C>T p.S101L Missense 4/7 - 1
1-92946644-G-A c.300C>T p.A100= Synonymous 4/7 - 1
1-92946644-G-C c.300C>G p.A100= Synonymous 4/7 - 1
1-92946644-G-T c.300C>A p.A100= Synonymous 4/7 - 1
1-92946836-A-G c.299-191T>C - IntronicSNV - 3/6 1
1-92947138-A-C c.299-493T>G - IntronicSNV - 3/6 3
1-92947427-C-A c.299-782G>T - IntronicSNV - 3/6 1
1-92947427-C-T c.299-782G>A - IntronicSNV - 3/6 1
1-92947981-G-GC c.298+439dup - IntronicInsertion - 3/6 1
1-92948423-G-A c.296C>T p.P99L Missense 3/7 - 1
1-92948423-G-T c.296C>A p.P99Q Missense 3/7 - 1
1-92948430-C-A c.289G>T p.A97S Missense 3/7 - 1
1-92948430-C-T c.289G>A p.A97T Missense 3/7 - 2
1-92948431-G-A c.288C>T p.S96= Synonymous 3/7 - 2
1-92948431-G-C c.288C>G p.S96= Synonymous 3/7 - 2
1-92948431-G-T c.288C>A p.S96= Synonymous 3/7 - 2
1-92948434-G-A c.285C>T p.P95= Synonymous 3/7 - 1
1-92948435-G-A c.284C>T p.P95L Missense 3/7 - 1
1-92948438-G-T c.281C>A p.S94* Nonsense 3/7 - 1
1-92948439-A-C c.280T>G p.S94A Missense 3/7 - 1
1-92948442-G-C c.277C>G p.P93A Missense 3/7 - 1
1-92948440-CG-C c.278del p.P93Rfs*105 Frameshift 3/7 - 1
1-92948447-C-A c.272G>T p.R91M Missense 3/7 - 1
1-92948448-T-C c.271A>G p.R91G Missense 3/7 - 1
1-92948449-C-T c.270G>A p.W90* Nonsense 3/7 - 1
1-92948450-C-T c.269G>A p.W90* Nonsense 3/7 - 1
1-92948454-A-G c.265T>C p.F89L Missense 3/7 - 1
1-92948474-C-T c.245G>A p.R82Q Missense 3/7 - 7
1-92948478-C-T c.241G>A p.E81K Missense 3/7 - 2
1-92948481-A-G c.238T>C p.C80R Missense 3/7 - 1
1-92948485-G-T c.234C>A p.S78R Missense 3/7 - 2
1-92948486-C-G c.233G>C p.S78T Missense 3/7 - 1
1-92948486-CT-AG c.232_233inv p.S78L Missense 3/7 - 1
1-92948491-T-A c.228A>T p.E76D Missense 3/7 - 1
1-92948491-T-G c.228A>C p.E76D Missense 3/7 - 1
1-92948493-C-A c.226G>T p.E76* Nonsense 3/7 - 2
1-92948493-C-T c.226G>A p.E76K Missense 3/7 - 4
1-92948494-G-C c.225C>G p.C75W Missense 3/7 - 1
1-92948507-G-A c.212C>T p.S71F Missense 3/7 - 1
1-92948508-A-G c.211T>C p.S71P Missense 3/7 - 1
1-92948511-C-T c.208G>A p.A70T Missense 3/7 - 1
1-92948513-G-A c.206C>T p.S69F Missense 3/7 - 1
1-92948513-G-T c.206C>A p.S69Y Missense 3/7 - 2
1-92948522-T-G c.197A>C p.D66A Missense 3/7 - 1
1-92948527-G-A c.192C>T p.A64= Synonymous 3/7 - 1
1-92948538-G-C c.181C>G p.L61V Missense 3/7 - 2
1-92948541-G-A c.178C>T p.Q60* Nonsense 3/7 - 1
1-92948541-G-T c.178C>A p.Q60K Missense 3/7 - 1
1-92948547-C-T c.172G>A p.E58K Missense 3/7 - 4
1-92948549-G-A c.170C>T p.P57L Missense 3/7 - 2
1-92948551-G-A c.168C>T p.S56= Synonymous 3/7 - 2
1-92948551-G-C c.168C>G p.S56= Synonymous 3/7 - 1
1-92948551-G-T c.168C>A p.S56= Synonymous 3/7 - 1
1-92948553-A-G c.166T>C p.S56P Missense 3/7 - 1
1-92948556-A-T c.163T>A p.L55M Missense 3/7 - 1
1-92948558-C-T c.161G>A p.R54H Missense 3/7 - 2
1-92948559-G-A c.160C>T p.R54C Missense 3/7 - 1
1-92948563-CCG-ACA c.154_156delinsTGT p.R52C Missense 3/7 - 1
1-92948565-G-C c.154C>G p.R52G Missense 3/7 - 1
1-92948567-G-C c.152C>G p.P51R Missense 3/7 - 1
1-92948571-C-A c.148G>T p.E50* Nonsense 3/7 - 1
1-92948571-C-T c.148G>A p.E50K Missense 3/7 - 2
1-92948572-C-A c.147G>T p.A49= Synonymous 3/7 - 3
1-92948572-C-G c.147G>C p.A49= Synonymous 3/7 - 3
1-92948572-C-T c.147G>A p.A49= Synonymous 3/7 - 4
1-92948573-G-A c.146C>T p.A49V Missense 3/7 - 3
1-92948574-C-T c.145G>A p.A49T Missense 3/7 - 1
1-92948576-T-G c.143A>C p.K48T Missense 3/7 - 1
1-92948578-C-G c.141G>C p.A47= Synonymous 3/7 - 2
1-92948578-C-T c.141G>A p.A47= Synonymous 3/7 - 2
1-92948583-C-A c.136G>T p.G46W Missense 3/7 - 3
1-92948587-T-A c.132A>T p.A44= Synonymous 3/7 - 1
1-92948587-T-C c.132A>G p.A44= Synonymous 3/7 - 1
1-92948587-T-G c.132A>C p.A44= Synonymous 3/7 - 1
1-92948589-C-T c.130G>A p.A44T Missense 3/7 - 1
1-92948600-C-A c.119G>T p.S40I Missense 3/7 - 1
1-92948600-C-T c.119G>A p.S40N Missense 3/7 - 3
1-92948601-T-C c.118A>G p.S40G Missense 3/7 - 2
1-92948602-G-A c.117C>T p.D39= Synonymous 3/7 - 1
1-92948930-C-T c.115G>A p.D39N Missense 2/7 - 2
1-92948932-G-C c.113C>G p.A38G Missense 2/7 - 1
1-92948933-C-T c.112G>A p.A38T Missense 2/7 - 2
1-92948935-C-G c.110G>C p.R37P Missense 2/7 - 3
1-92948935-C-T c.110G>A p.R37Q Missense 2/7 - 1
1-92948938-C-T c.107G>A p.S36N Missense 2/7 - 16
1-92948943-CGC-AAA c.100_102delinsTTT p.A34F Missense 2/7 - 1
1-92948945-C-T c.100G>A p.A34T Missense 2/7 - 2
1-92948949-T-A c.96A>T p.V32= Synonymous 2/7 - 1
1-92948949-T-C c.96A>G p.V32= Synonymous 2/7 - 1
1-92948949-T-G c.96A>C p.V32= Synonymous 2/7 - 1
1-92948950-A-G c.95T>C p.V32A Missense 2/7 - 3
1-92948953-T-A c.92A>T p.N31I Missense 2/7 - 1
1-92948962-C-T c.83G>A p.R28H Missense 2/7 - 2
1-92948963-G-A c.82C>T p.R28C Missense 2/7 - 2
1-92948968-G-A c.77C>T p.S26F Missense 2/7 - 1
1-92948968-GA-CG c.76_77delinsCG p.S26R Missense 2/7 - 1
1-92948977-G-A c.68C>T p.P23L Missense 2/7 - 1
1-92948978-G-T c.67C>A p.P23T Missense 2/7 - 1
1-92948982-T-C c.63A>G p.P21= Synonymous 2/7 - 1
1-92948984-G-A c.61C>T p.P21S Missense 2/7 - 1
1-92948984-G-T c.61C>A p.P21T Missense 2/7 - 3
1-92948989-C-G c.56G>C p.R19P Missense 2/7 - 1
1-92948990-G-A c.55C>T p.R19C Missense 2/7 - 1
1-92948994-C-A c.51G>T p.Q17H Missense 2/7 - 1
1-92948994-C-G c.51G>C p.Q17H Missense 2/7 - 1
1-92948996-G-C c.49C>G p.Q17E Missense 2/7 - 1
1-92949004-CT-GC c.40_41delinsGC p.S14A Missense 2/7 - 2
1-92949010-G-T c.35C>A p.A12D Missense 2/7 - 1
1-92949011-C-T c.34G>A p.A12T Missense 2/7 - 2
1-92949019-C-T c.26G>A p.S9N Missense 2/7 - 1
1-92949021-T-C c.24A>G p.K8= Synonymous 2/7 - 1
1-92949026-C-T c.19G>A p.V7I Missense 2/7 - 4
1-92949027-G-A c.18C>T p.L6= Synonymous 2/7 - 2
1-92949027-G-C c.18C>G p.L6= Synonymous 2/7 - 2
1-92949027-G-T c.18C>A p.L6= Synonymous 2/7 - 2
1-92949029-G-A c.16C>T p.L6F Missense 2/7 - 2
1-92949034-G-A c.11C>T p.S4L Missense 2/7 - 2
1-92949037-C-T c.8G>A p.R3H Missense 2/7 - 2
1-92949038-G-A c.7C>T p.R3C Missense 2/7 - 2
1-92949039-C-A c.6G>T p.P2= Synonymous 2/7 - 1
1-92949039-C-G c.6G>C p.P2= Synonymous 2/7 - 1
1-92949039-C-T c.6G>A p.P2= Synonymous 2/7 - 2
1-92950937-A-C c.-100+1346T>G - intron_variant - 1/6 1
1-92950937-A-G c.-100+1346T>C - intron_variant - 1/6 1
1-92951210-G-A c.-100+1073C>T - intron_variant - 1/6 2