ACAA2

ACAA2 acetyl-CoA acyltransferase 2

Annotation transcript: NM_006111.3

343 unique variant annotations were identified in 197 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
18-47309884-G-A c.*333C>T - 3-UTRSNV 10/10 - 2
18-47309884-G-C c.*333C>G - 3-UTRSNV 10/10 - 2
18-47309909-A-G c.*308T>C - 3-UTRSNV 10/10 - 2
18-47309988-G-A c.*229C>T - 3-UTRSNV 10/10 - 1
18-47310076-G-A c.*141C>T - 3-UTRSNV 10/10 - 3
18-47310076-G-C c.*141C>G - 3-UTRSNV 10/10 - 3
18-47310120-G-A c.*97C>T - 3-UTRSNV 10/10 - 1
18-47310224-G-A c.1187C>T p.T396I Missense 10/10 - 2
18-47310231-G-A c.1180C>T p.Q394* Nonsense 10/10 - 1
18-47310241-A-G c.1170T>C p.A390= Synonymous 10/10 - 1
18-47310242-G-A c.1169C>T p.A390V Missense 10/10 - 1
18-47310248-C-G c.1163G>C p.G388A Missense 10/10 - 1
18-47310250-T-C c.1161A>G p.Q387= Synonymous 10/10 - 1
18-47310254-C-T c.1157G>A p.G386D Missense 10/10 - 1
18-47310258-C-A c.1153G>T p.G385C Missense 10/10 - 1
18-47310272-G-C c.1139C>G p.S380* Nonsense 10/10 - 1
18-47310272-G-T c.1139C>A p.S380* Nonsense 10/10 - 1
18-47310279-C-G c.1132G>C p.V378L Missense 10/10 - 1
18-47310281-G-A c.1130C>T p.A377V Missense 10/10 - 3
18-47310282-C-T c.1129G>A p.A377T Missense 10/10 - 1
18-47310284-T-C c.1127A>G p.Y376C Missense 10/10 - 2
18-47310289-TCC-GCT c.1120_1122delinsAGC p.G374S Missense 10/10 - 1
18-47310296-C-T c.1115G>A p.R372Q Missense 10/10 - 1
18-47310297-G-A c.1114C>T p.R372* Nonsense 10/10 - 1
18-47310299-C-G c.1112G>C p.R371P Missense 10/10 - 7
18-47310299-C-T c.1112G>A p.R371H Missense 10/10 - 3
18-47310300-G-A c.1111C>T p.R371C Missense 10/10 - 3
18-47310506-G-A c.1110-205C>T - IntronicSNV - 9/9 1
18-47311521-C-T c.1109+46G>A - IntronicSNV - 9/9 1
18-47311566-C-T c.1109+1G>A - IntronicSNV - 9/9 1
18-47311570-A-C c.1106T>G p.L369* Nonsense 9/10 - 1
18-47311570-A-T c.1106T>A p.L369* Nonsense 9/10 - 1
18-47311571-A-C c.1105T>G p.L369V Missense 9/10 - 1
18-47311574-C-T c.1102G>A p.E368K Missense 9/10 - 2
18-47311589-C-A c.1087G>T p.A363S Missense 9/10 - 1
18-47311601-A-C c.1075T>G p.S359A Missense 9/10 - 1
18-47311613-C-A c.1063G>T p.G355* Nonsense 9/10 - 1
18-47311614-C-A c.1062G>T p.L354= Synonymous 9/10 - 3
18-47311614-C-G c.1062G>C p.L354= Synonymous 9/10 - 3
18-47311614-C-T c.1062G>A p.L354= Synonymous 9/10 - 3
18-47311616-G-A c.1060C>T p.L354= Synonymous 9/10 - 4
18-47311616-G-T c.1060C>A p.L354M Missense 9/10 - 1
18-47311620-G-A c.1056C>T p.H352= Synonymous 9/10 - 1
18-47311622-G-T c.1054C>A p.H352N Missense 9/10 - 1
18-47311624-C-T c.1052G>A p.G351D Missense 9/10 - 1
18-47311630-G-C c.1046C>G p.A349G Missense 9/10 - 1
18-47311634-AT-A c.1042del p.I348Lfs*22 Frameshift 9/10 - 1
18-47311649-C-T c.1027G>A p.V343M Missense 9/10 - 7
18-47311660-C-T c.1016G>A p.S339N Missense 9/10 - 1
18-47311699-T-C c.977A>G p.Q326R Missense 9/10 - 1
18-47311700-G-T c.976C>A p.Q326K Missense 9/10 - 2
18-47311703-G-A c.973C>T p.P325S Missense 9/10 - 4
18-47311706-C-G c.970G>C p.A324P Missense 9/10 - 1
18-47311711-G-A c.965C>T p.A322V Missense 9/10 - 1
18-47311719-C-A c.957G>T p.V319= Synonymous 9/10 - 1
18-47313493-A-T c.954+168T>A - IntronicSNV - 8/9 2
18-47313642-A-AC c.954+18_954+19insG - IntronicInsertion - 8/9 2
18-47313642-A-ACAAAAAAAAAAAC c.954+18_954+19insGTTTTTTTTTTTG - IntronicInsertion - 8/9 2
18-47313642-A-C c.954+19T>G - IntronicSNV - 8/9 2
18-47313643-A-C c.954+18T>G - IntronicSNV - 8/9 3
18-47313630-TAA-T c.954+29_954+30del - IntronicDeletion - 8/9 1
18-47313630-TA-T c.954+30del - IntronicDeletion - 8/9 1
18-47313661-C-A c.954G>T p.E318D Missense 8/10 - 1
18-47313661-C-G c.954G>C p.E318D Missense 8/10 - 1
18-47313667-C-A c.948G>T p.L316F Missense 8/10 - 1
18-47313672-C-T c.943G>A p.D315N Missense 8/10 - 2
18-47313683-AG-CT c.931_932inv p.L311S Missense 8/10 - 1
18-47313692-C-A c.923G>T p.G308V Missense 8/10 - 1
18-47313709-CCC-GCT c.904_906delinsAGC p.G302S Missense 8/10 - 1
18-47313719-G-A c.896C>T p.A299V Missense 8/10 - 4
18-47313731-C-G c.884G>C p.G295A Missense 8/10 - 1
18-47313791-G-A c.884-60C>T - IntronicSNV - 7/9 1
18-47314007-C-T c.884-276G>A - IntronicSNV - 7/9 1
18-47316578-C-A c.883+1262G>T - IntronicSNV - 7/9 1
18-47316993-A-G c.883+847T>C - IntronicSNV - 7/9 1
18-47317163-T-G c.883+677A>C - IntronicSNV - 7/9 1
18-47317767-C-G c.883+73G>C - IntronicSNV - 7/9 3
18-47317767-C-T c.883+73G>A - IntronicSNV - 7/9 3
18-47317843-T-C c.880A>G p.I294V Missense 7/10 - 1
18-47317846-C-A c.877G>T p.G293C Missense 7/10 - 1
18-47317848-A-G c.875T>C p.M292T Missense 7/10 - 1
18-47317848-A-T c.875T>A p.M292K Missense 7/10 - 1
18-47317849-T-C c.874A>G p.M292V Missense 7/10 - 1
18-47317850-G-A c.873C>T p.I291= Synonymous 7/10 - 2
18-47317852-T-C c.871A>G p.I291V Missense 7/10 - 3
18-47317858-G-A c.865C>T p.P289S Missense 7/10 - 1
18-47317861-C-T c.862G>A p.D288N Missense 7/10 - 1
18-47317863-C-A c.860G>T p.C287F Missense 7/10 - 1
18-47317864-A-C c.859T>G p.C287G Missense 7/10 - 1
18-47317864-A-G c.859T>C p.C287R Missense 7/10 - 1
18-47317871-T-A c.852A>T p.V284= Synonymous 7/10 - 1
18-47317873-C-T c.850G>A p.V284I Missense 7/10 - 1
18-47317897-G-A c.826C>T p.L276= Synonymous 7/10 - 2
18-47317897-G-T c.826C>A p.L276M Missense 7/10 - 1
18-47317904-G-C c.819C>G p.F273L Missense 7/10 - 2
18-47317904-G-T c.819C>A p.F273L Missense 7/10 - 2
18-47317906-A-G c.817T>C p.F273L Missense 7/10 - 2
18-47317909-T-G c.814A>C p.N272H Missense 7/10 - 1
18-47317912-G-A c.811C>T p.H271Y Missense 7/10 - 4
18-47317915-T-A c.808A>T p.K270* Nonsense 7/10 - 4
18-47317916-C-A c.807G>T p.K269N Missense 7/10 - 3
18-47317916-C-G c.807G>C p.K269N Missense 7/10 - 4
18-47317916-C-T c.807G>A p.K269= Synonymous 7/10 - 1
18-47317923-G-A c.800C>T p.A267V Missense 7/10 - 1
18-47317935-G-A c.788C>T p.A263V Missense 7/10 - 1
18-47317940-G-A c.783C>T p.I261= Synonymous 7/10 - 1
18-47317940-G-T c.783C>A p.I261= Synonymous 7/10 - 1
18-47317948-C-T c.775G>A p.A259T Missense 7/10 - 1
18-47317956-C-G c.767G>C p.G256A Missense 7/10 - 1
18-47317959-T-C c.764A>G p.D255G Missense 7/10 - 2
18-47317964-TAC-CAT c.757_759delinsATG p.V253M Missense 7/10 - 1
18-47318079-T-G c.754-110A>C - IntronicSNV - 6/9 4
18-47318473-G-C c.753+49C>G - IntronicSNV - 6/9 1
18-47318503-T-A c.753+19A>T - IntronicSNV - 6/9 6
18-47318521-C-T c.753+1G>A - IntronicSNV - 6/9 1
18-47318525-T-A c.750A>T p.A250= Synonymous 6/10 - 1
18-47318525-T-C c.750A>G p.A250= Synonymous 6/10 - 1
18-47318525-T-G c.750A>C p.A250= Synonymous 6/10 - 1
18-47318527-C-T c.748G>A p.A250T Missense 6/10 - 1
18-47318536-C-T c.739G>A p.A247T Missense 6/10 - 1
18-47318544-G-C c.731C>G p.T244S Missense 6/10 - 1
18-47318553-T-G c.722A>C p.K241T Missense 6/10 - 1
18-47318555-C-T c.720G>A p.K240= Synonymous 6/10 - 1
18-47318562-A-G c.713T>C p.V238A Missense 6/10 - 1
18-47318563-C-T c.712G>A p.V238I Missense 6/10 - 1
18-47318564-T-A c.711A>T p.P237= Synonymous 6/10 - 1
18-47318564-T-C c.711A>G p.P237= Synonymous 6/10 - 1
18-47318564-T-G c.711A>C p.P237= Synonymous 6/10 - 1
18-47318565-G-T c.710C>A p.P237Q Missense 6/10 - 1
18-47318568-GG-AA c.706_707delinsTT p.P236F Missense 6/10 - 1
18-47318569-G-A c.706C>T p.P236S Missense 6/10 - 3
18-47318571-A-G c.704T>C p.L235P Missense 6/10 - 1
18-47318572-G-T c.703C>A p.L235I Missense 6/10 - 1
18-47318573-T-C c.702A>G p.K234= Synonymous 6/10 - 1
18-47318583-T-C c.692A>G p.Q231R Missense 6/10 - 1
18-47318584-G-A c.691C>T p.Q231* Nonsense 6/10 - 1
18-47318605-G-A c.670C>T p.R224W Missense 6/10 - 2
18-47318608-C-T c.667G>A p.A223T Missense 6/10 - 1
18-47318611-G-A c.664C>T p.H222Y Missense 6/10 - 1
18-47318614-C-T c.661G>A p.E221K Missense 6/10 - 1
18-47318615-G-A c.660C>T p.D220= Synonymous 6/10 - 3
18-47318616-T-C c.659A>G p.D220G Missense 6/10 - 1
18-47318617-C-T c.658G>A p.D220N Missense 6/10 - 1
18-47318620-C-T c.655G>A p.V219I Missense 6/10 - 1
18-47318621-C-A c.654G>T p.Q218H Missense 6/10 - 1
18-47318624-C-A c.651G>T p.M217I Missense 6/10 - 1
18-47318624-C-G c.651G>C p.M217I Missense 6/10 - 1
18-47318624-C-T c.651G>A p.M217I Missense 6/10 - 1
18-47318626-T-C c.649A>G p.M217V Missense 6/10 - 18
18-47318638-C-A c.637G>T p.G213* Nonsense 6/10 - 1
18-47318638-C-CT c.636dup p.G213Rfs*43 Frameshift 6/10 - 1
18-47318646-G-A c.629C>T p.T210I Missense 6/10 - 1
18-47318658-A-G c.617T>C p.I206T Missense 6/10 - 1
18-47318661-G-A c.614C>T p.P205L Missense 6/10 - 1
18-47318666-C-A c.609G>T p.M203I Missense 6/10 - 1
18-47318666-C-G c.609G>C p.M203I Missense 6/10 - 1
18-47318666-C-T c.609G>A p.M203I Missense 6/10 - 1
18-47318668-T-G c.607A>C p.M203L Missense 6/10 - 1
18-47318678-A-C c.597T>G p.F199L Missense 6/10 - 1
18-47318678-A-T c.597T>A p.F199L Missense 6/10 - 1
18-47318680-A-G c.595T>C p.F199L Missense 6/10 - 1
18-47318683-A-T c.592T>A p.Y198N Missense 6/10 - 1
18-47318692-C-T c.583G>A p.D195N Missense 6/10 - 1
18-47318706-T-C c.578-9A>G - IntronicSNV - 5/9 1
18-47318729-T-A c.578-32A>T - IntronicSNV - 5/9 1
18-47320560-G-GTAAA c.577+86_577+89dup - IntronicInsertion - 5/9 2
18-47320650-C-T c.577G>A p.A193T Missense 5/10 - 1
18-47320654-T-C c.573A>G p.K191= Synonymous 5/10 - 1
18-47320664-T-C c.563A>G p.Q188R Missense 5/10 - 1
18-47320669-T-A c.558A>T p.S186= Synonymous 5/10 - 1
18-47320669-T-C c.558A>G p.S186= Synonymous 5/10 - 1
18-47320669-T-G c.558A>C p.S186= Synonymous 5/10 - 1
18-47320669-TGA-GTT c.556_558delinsAAC p.S186N Missense 5/10 - 1
18-47320670-G-A c.557C>T p.S186L Missense 5/10 - 3
18-47320675-CAG-AAA c.550_552delinsTTT p.L184F Missense 5/10 - 1
18-47320684-T-C c.543A>G p.K181= Synonymous 5/10 - 1
18-47320693-T-A c.534A>T p.E178D Missense 5/10 - 1
18-47320693-T-G c.534A>C p.E178D Missense 5/10 - 1
18-47320699-TCT-ATG c.526_528delinsCAT p.R176H Missense 5/10 - 1
18-47320700-C-A c.527G>T p.R176I Missense 5/10 - 1
18-47320707-T-C c.520A>G p.I174V Missense 5/10 - 1
18-47320714-T-C c.513A>G p.K171= Synonymous 5/10 - 1
18-47320717-T-C c.510A>G p.V170= Synonymous 5/10 - 1
18-47320726-A-C c.501T>G p.N167K Missense 5/10 - 1
18-47320726-A-T c.501T>A p.N167K Missense 5/10 - 1
18-47320729-C-T c.498G>A p.E166= Synonymous 5/10 - 1
18-47320737-T-C c.490A>G p.T164A Missense 5/10 - 1
18-47320740-T-C c.487A>G p.M163V Missense 5/10 - 2
18-47320758-C-A c.469G>T p.V157F Missense 5/10 - 1
18-47320775-G-A c.452C>T p.S151L Missense 5/10 - 1
18-47320794-C-T c.433G>A p.E145K Missense 5/10 - 2
18-47320941-G-C c.430-144C>G - IntronicSNV - 4/9 1
18-47320952-T-A c.430-155A>T - IntronicSNV - 4/9 1
18-47320952-T-C c.430-155A>G - IntronicSNV - 4/9 1
18-47322138-G-A c.426C>T p.I142= Synonymous 4/10 - 1
18-47322138-G-T c.426C>A p.I142= Synonymous 4/10 - 1
18-47322140-T-A c.424A>T p.I142F Missense 4/10 - 1
18-47322148-C-T c.416G>A p.G139E Missense 4/10 - 1
18-47322153-C-T c.411G>A p.K137= Synonymous 4/10 - 1
18-47322161-C-A c.403G>T p.G135* Nonsense 4/10 - 1
18-47322167-G-A c.397C>T p.R133C Missense 4/10 - 1
18-47322175-C-G c.389G>C p.R130T Missense 4/10 - 2
18-47322181-C-A c.383G>T p.C128F Missense 4/10 - 1
18-47322190-G-A c.374C>T p.A125V Missense 4/10 - 1
18-47322196-C-A c.368G>T p.S123I Missense 4/10 - 1
18-47322196-C-T c.368G>A p.S123N Missense 4/10 - 1
18-47322211-C-T c.353G>A p.G118E Missense 4/10 - 1
18-47322226-A-C c.338T>G p.V113G Missense 4/10 - 1
18-47322226-A-G c.338T>C p.V113A Missense 4/10 - 2
18-47322232-G-A c.332C>T p.A111V Missense 4/10 - 1
18-47322241-A-G c.323T>C p.V108A Missense 4/10 - 1
18-47322244-C-T c.320G>A p.C107Y Missense 4/10 - 1
18-47322247-A-T c.317T>A p.I106N Missense 4/10 - 1
18-47322494-A-G c.313-243T>C - IntronicSNV - 3/9 2
18-47322524-C-G c.313-273G>C - IntronicSNV - 3/9 2
18-47323849-A-C c.299T>G p.V100G Missense 3/10 - 1
18-47323856-A-G c.292T>C p.S98P Missense 3/10 - 1
18-47323859-G-C c.289C>G p.Q97E Missense 3/10 - 1
18-47323869-AC-CT c.278_279delinsAG p.G93E Missense 3/10 - 1
18-47323870-C-A c.278G>T p.G93V Missense 3/10 - 1
18-47323870-C-G c.278G>C p.G93A Missense 3/10 - 2
18-47323871-C-A c.277G>T p.G93C Missense 3/10 - 1
18-47323873-CA-GT c.274_275delinsAC p.C92T Missense 3/10 - 1
18-47323875-G-A c.273C>T p.L91= Synonymous 3/10 - 1
18-47323877-G-C c.271C>G p.L91V Missense 3/10 - 1
18-47323879-C-A c.269G>T p.R90M Missense 3/10 - 2
18-47323885-AT-TG c.262_263delinsCA p.I88H Missense 3/10 - 1
18-47323886-T-G c.262A>C p.I88L Missense 3/10 - 1
18-47323888-G-A c.260C>T p.T87M Missense 3/10 - 1
18-47323888-G-T c.260C>A p.T87K Missense 3/10 - 2
18-47323889-T-G c.259A>C p.T87P Missense 3/10 - 1
18-47323912-A-T c.236T>A p.I79N Missense 3/10 - 1
18-47323915-C-A c.233G>T p.G78V Missense 3/10 - 2
18-47323915-C-T c.233G>A p.G78E Missense 3/10 - 1
18-47323920-AC-TT c.227_228delinsAA p.R76Q Missense 3/10 - 1
18-47323922-G-A c.226C>T p.R76C Missense 3/10 - 2
18-47323931-C-A c.217G>T p.V73F Missense 3/10 - 1
18-47323932-A-C c.216T>G p.H72Q Missense 3/10 - 1
18-47323932-A-T c.216T>A p.H72Q Missense 3/10 - 1
18-47323933-T-C c.215A>G p.H72R Missense 3/10 - 1
18-47323934-G-C c.214C>G p.H72D Missense 3/10 - 2
18-47323935-CCT-ATG c.211_213delinsCAT p.R71H Missense 3/10 - 1
18-47323946-A-G c.202T>C p.Y68H Missense 3/10 - 1
18-47323951-G-C c.197C>G p.A66G Missense 3/10 - 1
18-47323951-GC-AA c.196_197delinsTT p.A66F Missense 3/10 - 1
18-47323951-G-T c.197C>A p.A66D Missense 3/10 - 1
18-47323952-C-T c.196G>A p.A66T Missense 3/10 - 1
18-47323960-G-A c.188C>T p.S63F Missense 3/10 - 2
18-47323960-G-T c.188C>A p.S63Y Missense 3/10 - 1
18-47323973-G-A c.184-9C>T - IntronicSNV - 2/9 1
18-47323973-G-C c.184-9C>G - IntronicSNV - 2/9 1
18-47324281-C-T c.184-317G>A - IntronicSNV - 2/9 3
18-47325310-G-A c.184-1346C>T - IntronicSNV - 2/9 2
18-47326346-C-A c.184-2382G>T - IntronicSNV - 2/9 1
18-47326346-C-T c.184-2382G>A - IntronicSNV - 2/9 1
18-47328930-CA-C c.183+126del - IntronicDeletion - 2/9 1
18-47328930-C-CA c.183+126dup - IntronicInsertion - 2/9 1
18-47329059-G-C c.181C>G p.Q61E Missense 2/10 - 2
18-47329062-G-A c.178C>T p.L60= Synonymous 2/10 - 2
18-47329064-A-C c.176T>G p.V59G Missense 2/10 - 1
18-47329069-G-T c.171C>A p.G57= Synonymous 2/10 - 1
18-47329071-C-G c.169G>C p.G57R Missense 2/10 - 2
18-47329075-A-G c.165T>C p.I55= Synonymous 2/10 - 1
18-47329075-A-T c.165T>A p.I55= Synonymous 2/10 - 1
18-47329083-T-G c.157A>C p.S53R Missense 2/10 - 1
18-47329085-T-C c.155A>G p.D52G Missense 2/10 - 1
18-47329086-C-A c.154G>T p.D52Y Missense 2/10 - 1
18-47329089-C-A c.151G>T p.V51F Missense 2/10 - 1
18-47329089-C-CCA c.150_151insTG p.V51Wfs*5 Frameshift 2/10 - 1
18-47329089-C-T c.151G>A p.V51I Missense 2/10 - 1
18-47329090-TGT-ACA c.148_150inv p.T50C Missense 2/10 - 1
18-47329092-T-C c.148A>G p.T50A Missense 2/10 - 2
18-47329095-C-G c.145G>C p.E49Q Missense 2/10 - 1
18-47329101-A-T c.139T>A p.S47T Missense 2/10 - 1
18-47329102-G-A c.138C>T p.V46= Synonymous 2/10 - 1
18-47329102-G-C c.138C>G p.V46= Synonymous 2/10 - 1
18-47329102-G-T c.138C>A p.V46= Synonymous 2/10 - 1
18-47329104-C-T c.136G>A p.V46I Missense 2/10 - 1
18-47329110-C-A c.130G>T p.G44C Missense 2/10 - 1
18-47329112-G-A c.128C>T p.A43V Missense 2/10 - 1
18-47329118-AA-CT c.121_122delinsAG p.L41R Missense 2/10 - 1
18-47329122-C-A c.118G>T p.A40S Missense 2/10 - 1
18-47329124-G-A c.116C>T p.A39V Missense 2/10 - 1
18-47329126-C-T c.114G>A p.K38= Synonymous 2/10 - 1
18-47329130-G-A c.110C>T p.A37V Missense 2/10 - 1
18-47329142-GA-TT c.97_98delinsAA p.S33N Missense 2/10 - 1
18-47329147-G-A c.93C>T p.D31= Synonymous 2/10 - 1
18-47329152-T-A c.88A>T p.T30S Missense 2/10 - 1
18-47329153-AG-CT c.86_87inv p.A29E Missense 2/10 - 1
18-47329153-AGC-TTG c.85_87delinsCAA p.A29Q Missense 2/10 - 1
18-47329154-GC-AG c.85_86delinsCT p.A29L Missense 2/10 - 1
18-47329154-GC-AT c.85_86delinsAT p.A29I Missense 2/10 - 1
18-47329154-G-T c.86C>A p.A29D Missense 2/10 - 1
18-47329155-C-A c.85G>T p.A29S Missense 2/10 - 1
18-47329155-C-T c.85G>A p.A29T Missense 2/10 - 2
18-47329172-AG-GC c.67_68delinsGC p.L23A Missense 2/10 - 1
18-47329174-G-A c.66C>T p.G22= Synonymous 2/10 - 1
18-47329174-G-C c.66C>G p.G22= Synonymous 2/10 - 1
18-47329174-G-T c.66C>A p.G22= Synonymous 2/10 - 1
18-47329175-C-T c.65G>A p.G22D Missense 2/10 - 1
18-47329179-C-A c.61G>T p.G21* Nonsense 2/10 - 1
18-47329180-G-A c.60C>T p.Y20= Synonymous 2/10 - 2
18-47329180-G-C c.60C>G p.Y20* Nonsense 2/10 - 1
18-47329180-G-T c.60C>A p.Y20* Nonsense 2/10 - 1
18-47329181-T-TA c.58dup p.Y20Lfs*12 Frameshift 2/10 - 1
18-47329183-A-C c.57T>G p.A19= Synonymous 2/10 - 1
18-47329183-A-G c.57T>C p.A19= Synonymous 2/10 - 1
18-47329183-A-T c.57T>A p.A19= Synonymous 2/10 - 1
18-47329184-GC-AA c.55_56delinsTT p.A19F Missense 2/10 - 1
18-47329185-C-G c.55G>C p.A19P Missense 2/10 - 1
18-47329185-C-T c.55G>A p.A19T Missense 2/10 - 2
18-47329189-A-G c.51T>C p.F17= Synonymous 2/10 - 1
18-47329192-G-A c.48C>T p.P16= Synonymous 2/10 - 1
18-47329192-G-C c.48C>G p.P16= Synonymous 2/10 - 1
18-47329192-G-T c.48C>A p.P16= Synonymous 2/10 - 1
18-47329193-G-C c.47C>G p.P16R Missense 2/10 - 4
18-47329196-G-A c.44C>T p.T15M Missense 2/10 - 3
18-47329197-T-C c.43A>G p.T15A Missense 2/10 - 3
18-47329199-C-A c.41G>T p.R14L Missense 2/10 - 8
18-47329199-C-T c.41G>A p.R14Q Missense 2/10 - 1
18-47329200-G-A c.40C>T p.R14* Nonsense 2/10 - 1
18-47329201-C-T c.39G>A p.K13= Synonymous 2/10 - 1
18-47329202-T-C c.38A>G p.K13R Missense 2/10 - 3
18-47329203-T-TA c.36dup p.K13* Nonsense 2/10 - 2
18-47329204-AGC-CCA c.34_36delinsTGG p.A12W Missense 2/10 - 1
18-47329204-AGC-TTG c.34_36delinsCAA p.A12Q Missense 2/10 - 1
18-47329205-G-T c.35C>A p.A12D Missense 2/10 - 2
18-47329206-C-G c.34G>C p.A12P Missense 2/10 - 3
18-47329207-AG-CT c.32_33inv p.A11E Missense 2/10 - 1
18-47329209-C-A c.31G>T p.A11S Missense 2/10 - 1
18-47329216-A-G c.24T>C p.F8= Synonymous 2/10 - 2
18-47329223-C-G c.17G>C p.G6A Missense 2/10 - 1
18-47329223-C-T c.17G>A p.G6D Missense 2/10 - 1
18-47329265-T-C c.17-42A>G - IntronicSNV - 1/9 2
18-47329265-T-G c.17-42A>C - IntronicSNV - 1/9 2
18-47339725-T-C c.16+114A>G - IntronicSNV - 1/9 1
18-47339725-T-G c.16+114A>C - IntronicSNV - 1/9 1
18-47339798-G-A c.16+41C>T - IntronicSNV - 1/9 8
18-47339798-G-C c.16+41C>G - IntronicSNV - 1/9 7
18-47339851-C-T c.4G>A p.A2T Missense 1/10 - 1
18-47339852-C-A c.3G>T p.M1? Missense 1/10 - 1
18-47339852-C-G c.3G>C p.M1? Missense 1/10 - 1
18-47339852-C-T c.3G>A p.M1? Missense 1/10 - 1