COMT catechol-O-methyltransferase

Annotation transcript: NM_000754.4

221 unique variant annotations were identified in 741 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
22-19929519-G-A c.-92+99G>A - intron_variant - 1/5 1
22-19929551-A-G c.-92+131A>G - intron_variant - 1/5 4
22-19929937-C-A c.-92+517C>A - intron_variant - 1/5 1
22-19929937-C-T c.-92+517C>T - intron_variant - 1/5 1
22-19930002-C-A c.-92+582C>A - intron_variant - 1/5 1
22-19930002-C-G c.-92+582C>G - intron_variant - 1/5 1
22-19930014-G-A c.-92+594G>A - intron_variant - 1/5 1
22-19930014-G-T c.-92+594G>T - intron_variant - 1/5 1
22-19930017-G-C c.-92+597G>C - intron_variant - 1/5 1
22-19930109-T-A c.-92+689T>A - intron_variant - 1/5 28
22-19930109-T-C c.-92+689T>C - intron_variant - 1/5 28
22-19930121-A-G c.-92+701A>G - intron_variant - 1/5 114
22-19930159-C-T c.-92+739C>T - intron_variant - 1/5 4
22-19931407-T-A c.-92+1987T>A - intron_variant - 1/5 32
22-19931407-T-C c.-92+1987T>C - intron_variant - 1/5 32
22-19931668-A-G c.-92+2248A>G - intron_variant - 1/5 22
22-19931976-T-C c.-92+2556T>C - intron_variant - 1/5 4
22-19933048-T-G c.-92+3628T>G - intron_variant - 1/5 4
22-19933778-C-A c.-92+4358C>A - intron_variant - 1/5 2
22-19933778-C-G c.-92+4358C>G - intron_variant - 1/5 2
22-19934025-A-G c.-92+4605A>G - intron_variant - 1/5 4
22-19934025-A-T c.-92+4605A>T - intron_variant - 1/5 4
22-19934051-T-C c.-92+4631T>C - intron_variant - 1/5 13
22-19934850-A-G c.-92+5430A>G - intron_variant - 1/5 1
22-19934983-G-A c.-92+5563G>A - intron_variant - 1/5 1
22-19934999-T-C c.-92+5579T>C - intron_variant - 1/5 5
22-19935148-T-C c.-92+5728T>C - intron_variant - 1/5 1
22-19935494-G-A c.-92+6074G>A - intron_variant - 1/5 1
22-19936197-G-A c.-92+6777G>A - intron_variant - 1/5 1
22-19937533-T-C c.-92+8113T>C - intron_variant - 1/5 17
22-19937533-T-G c.-92+8113T>G - intron_variant - 1/5 17
22-19937638-T-G c.-92+8218T>G - intron_variant - 1/5 24
22-19938709-C-T c.-92+9289C>T - intron_variant - 1/5 1
22-19938759-A-G c.-92+9339A>G - intron_variant - 1/5 1
22-19940182-C-A c.-91-8540C>A - intron_variant - 1/5 1
22-19939096-G-A c.-91-9626G>A - IntronicSNV - 1/5 4
22-19940661-C-G c.-91-8061C>G - intron_variant - 1/5 1
22-19940661-C-T c.-91-8061C>T - intron_variant - 1/5 1
22-19941507-A-G c.-91-7215A>G - intron_variant - 1/5 1
22-19941947-C-T c.-91-6775C>T - intron_variant - 1/5 3
22-19942484-C-T c.-91-6238C>T - intron_variant - 1/5 1
22-19942680-C-A c.-91-6042C>A - intron_variant - 1/5 5
22-19942680-C-G c.-91-6042C>G - intron_variant - 1/5 5
22-19942997-A-G c.-91-5725A>G - intron_variant - 1/5 6
22-19944560-G-A c.-91-4162G>A - intron_variant - 1/5 1
22-19944560-G-C c.-91-4162G>C - intron_variant - 1/5 1
22-19945177-A-G c.-91-3545A>G - intron_variant - 1/5 48
22-19947347-G-C c.-91-1375G>C - intron_variant - 1/5 1
22-19947942-C-A c.-91-780C>A - intron_variant - 1/5 2
22-19946897-A-C c.-91-1825A>C - IntronicSNV - 1/5 1
22-19946897-A-T c.-91-1825A>T - IntronicSNV - 1/5 1
22-19948337-T-C c.-91-385T>C - intron_variant - 1/5 38
22-19948863-G-A c.-1+51G>A - intron_variant - 2/5 14
22-19948863-G-C c.-1+51G>C - intron_variant - 2/5 14
22-19948863-G-T c.-1+51G>T - intron_variant - 2/5 14
22-19949013-C-T c.-1+201C>T - intron_variant - 2/5 21
22-19949213-G-A c.-1+401G>A - intron_variant - 2/5 1
22-19949644-G-C c.1-406G>C - IntronicSNV - 2/5 2
22-19949747-T-C c.1-303T>C - IntronicSNV - 2/5 2
22-19949952-A-G c.1-98A>G - IntronicSNV - 2/5 155
22-19948742-C-G c.-71C>G - IntronicSNV 2/6 - 1
22-19950020-C-T c.1-30C>T - IntronicSNV - 2/5 1
22-19950055-G-A c.6G>A p.P2= Synonymous 3/6 - 1
22-19950055-G-C c.6G>C p.P2= Synonymous 3/6 - 1
22-19950055-G-T c.6G>T p.P2= Synonymous 3/6 - 1
22-19950061-C-A c.12C>A p.A4= Synonymous 3/6 - 3
22-19950061-C-G c.12C>G p.A4= Synonymous 3/6 - 3
22-19950061-C-T c.12C>T p.A4= Synonymous 3/6 - 3
22-19950062-C-T c.13C>T p.P5S Missense 3/6 - 1
22-19950064-G-A c.15G>A p.P5= Synonymous 3/6 - 1
22-19950064-G-C c.15G>C p.P5= Synonymous 3/6 - 1
22-19950064-G-T c.15G>T p.P5= Synonymous 3/6 - 1
22-19950067-T-A c.18T>A p.P6= Synonymous 3/6 - 1
22-19950067-T-C c.18T>C p.P6= Synonymous 3/6 - 1
22-19950067-T-G c.18T>G p.P6= Synonymous 3/6 - 1
22-19950079-A-C c.30A>C p.A10= Synonymous 3/6 - 2
22-19950079-A-G c.30A>G p.A10= Synonymous 3/6 - 1
22-19950079-A-T c.30A>T p.A10= Synonymous 3/6 - 1
22-19950081-C-G c.32C>G p.A11G Missense 3/6 - 1
22-19950086-TT-GC c.37_38delinsGC p.L13A Missense 3/6 - 1
22-19950089-C-A c.40C>A p.L14M Missense 3/6 - 1
22-19950096-T-C c.47T>C p.L16P Missense 3/6 - 1
22-19950098-G-A c.49G>A p.V17M Missense 3/6 - 1
22-19950098-G-C c.49G>C p.V17L Missense 3/6 - 1
22-19950098-G-T c.49G>T p.V17L Missense 3/6 - 1
22-19950108-T-C c.59T>C p.V20A Missense 3/6 - 1
22-19950128-AG-GC c.79_80delinsGC p.R27A Missense 3/6 - 1
22-19950147-T-C c.98T>C p.L33P Missense 3/6 - 1
22-19950149-T-G c.100T>G p.C34G Missense 3/6 - 1
22-19950149-TG-AC c.100_101delinsAC p.C34T Missense 3/6 - 1
22-19950150-G-C c.101G>C p.C34S Missense 3/6 - 5
22-19950158-GG-CT c.109_110delinsCT p.G37L Missense 3/6 - 1
22-19950159-G-C c.110G>C p.G37A Missense 3/6 - 1
22-19950161-T-A c.112T>A p.W38R Missense 3/6 - 1
22-19950161-T-C c.112T>C p.W38R Missense 3/6 - 1
22-19950161-TG-AA c.112_113delinsAA p.W38K Missense 3/6 - 1
22-19950161-TG-GC c.112_113delinsGC p.W38A Missense 3/6 - 1
22-19950161-TGG-GAC c.112_114delinsGAC p.W38D Missense 3/6 - 1
22-19950161-TG-GT c.112_113delinsGT p.W38V Missense 3/6 - 1
22-19950166-C-A c.117C>A p.N39K Missense 3/6 - 1
22-19950166-C-G c.117C>G p.N39K Missense 3/6 - 1
22-19950166-C-T c.117C>T p.N39= Synonymous 3/6 - 1
22-19950169-G-C c.120G>C p.E40D Missense 3/6 - 1
22-19950169-G-T c.120G>T p.E40D Missense 3/6 - 1
22-19950176-CTG-ATC c.127_129delinsATC p.L43I Missense 3/6 - 1
22-19950187-C-G c.138C>G p.I46M Missense 3/6 - 1
22-19950188-C-T c.139C>T p.H47Y Missense 3/6 - 1
22-19950189-A-G c.140A>G p.H47R Missense 3/6 - 5
22-19950200-A-G c.151A>G p.M51V Missense 3/6 - 1
22-19950200-AT-GC c.151_152delinsGC p.M51A Missense 3/6 - 2
22-19950203-G-A c.154G>A p.G52S Missense 3/6 - 1
22-19950211-C-A c.162C>A p.T54= Synonymous 3/6 - 1
22-19950211-C-G c.162C>G p.T54= Synonymous 3/6 - 1
22-19950211-C-T c.162C>T p.T54= Synonymous 3/6 - 1
22-19950219-A-G c.170A>G p.Q57R Missense 3/6 - 1
22-19950228-T-C c.179T>C p.L60P Missense 3/6 - 1
22-19950233-C-T c.184C>T p.H62Y Missense 3/6 - 1
22-19950235-C-T c.186C>T p.H62= Synonymous 3/6 - 208
22-19950236-GTG-AAC c.187_189delinsAAC p.V63N Missense 3/6 - 3
22-19950248-G-A c.199G>A p.A67T Missense 3/6 - 1
22-19950248-GCG-TGT c.199_201delinsTGT p.A67C Missense 3/6 - 1
22-19950262-C-G c.213C>G p.N71K Missense 3/6 - 1
22-19950263-G-A c.214G>A p.A72T Missense 3/6 - 38
22-19950263-G-T c.214G>T p.A72S Missense 3/6 - 54
22-19950268-G-A c.219G>A p.Q73= Synonymous 3/6 - 6
22-19950281-GCC-AAG c.232_234delinsAAG p.A78K Missense 3/6 - 2
22-19950281-G-T c.232G>T p.A78S Missense 3/6 - 1
22-19950282-C-A c.233C>A p.A78D Missense 3/6 - 2
22-19950314-GC-TG c.265_266delinsTG p.A89C Missense 3/6 - 1
22-19950315-C-T c.266C>T p.A89V Missense 3/6 - 1
22-19950323-G-A c.274G>A p.V92M Missense 3/6 - 1
22-19950327-G-C c.278G>C p.G93A Missense 3/6 - 6
22-19950347-C-T c.289+9C>T - IntronicSNV - 3/5 2
22-19950428-A-G c.289+90A>G - IntronicSNV - 3/5 23
22-19950763-T-G c.290-326T>G - IntronicSNV - 3/5 5
22-19951101-A-G c.302A>G p.D101G Missense 4/6 - 1
22-19951103-G-A c.304G>A p.A102T Missense 4/6 - 8
22-19951106-GTG-ATC c.307_309delinsATC p.V103I Missense 4/6 - 1
22-19951109-A-G c.310A>G p.I104V Missense 4/6 - 1
22-19951119-A-G c.320A>G p.H107R Missense 4/6 - 1
22-19951128-C-T c.329C>T p.S110F Missense 4/6 - 1
22-19951173-G-A c.374G>A p.R125H Missense 4/6 - 1
22-19951174-C-T c.375C>T p.R125= Synonymous 4/6 - 1
22-19951182-G-A c.383G>A p.R128H Missense 4/6 - 1
22-19951201-G-A c.402G>A p.A134= Synonymous 4/6 - 2
22-19951205-CT-TA c.406_407delinsTA p.L136Y Missense 4/6 - 1
22-19951207-C-A c.408C>A p.L136= Synonymous 4/6 - 15
22-19951207-C-G c.408C>G p.L136= Synonymous 4/6 - 222
22-19951207-C-T c.408C>T p.L136= Synonymous 4/6 - 222
22-19951220-A-G c.421A>G p.I141V Missense 4/6 - 1
22-19951222-C-G c.423C>G p.I141M Missense 4/6 - 1
22-19951223-A-G c.424A>G p.N142D Missense 4/6 - 1
22-19951230-A-C c.431A>C p.D144A Missense 4/6 - 1
22-19951230-A-G c.431A>G p.D144G Missense 4/6 - 1
22-19951232-TG-GC c.433_434delinsGC p.C145A Missense 4/6 - 1
22-19951236-C-T c.437C>T p.A146V Missense 4/6 - 4
22-19951237-C-T c.438C>T p.A146= Synonymous 4/6 - 3
22-19951271-G-A c.472G>A p.V158M Missense 4/6 - 2247
22-19951273-G-A c.474G>A p.V158= Synonymous 4/6 - 22
22-19951273-G-C c.474G>C p.V158= Synonymous 4/6 - 22
22-19951273-G-T c.474G>T p.V158= Synonymous 4/6 - 22
22-19951272-TGAA-T c.475_477del p.K159del InFrameDeletion 4/6 - 1
22-19951710-C-T c.503C>T p.A168V Missense 5/6 - 1
22-19951721-AT-TG c.514_515delinsTG p.I172C Missense 5/6 - 1
22-19951760-C-T c.553C>T p.L185= Synonymous 5/6 - 2
22-19951762-G-A c.555G>A p.L185= Synonymous 5/6 - 2
22-19951762-G-C c.555G>C p.L185= Synonymous 5/6 - 2
22-19951762-G-T c.555G>T p.L185= Synonymous 5/6 - 2
22-19951772-T-C c.565T>C p.F189L Missense 5/6 - 1
22-19951774-C-A c.567C>A p.F189L Missense 5/6 - 1
22-19951774-C-G c.567C>G p.F189L Missense 5/6 - 1
22-19951775-C-A c.568C>A p.L190I Missense 5/6 - 1
22-19951781-C-G c.574C>G p.H192D Missense 5/6 - 1
22-19951803-C-G c.596C>G p.P199R Missense 5/6 - 1
22-19951804-G-A c.597G>A p.P199= Synonymous 5/6 - 10
22-19951806-A-T c.599A>T p.D200V Missense 5/6 - 1
22-19951816-C-T c.609C>T p.L203= Synonymous 5/6 - 1
22-19951897-G-A c.615+75G>A - IntronicSNV - 5/5 7
22-19951897-G-C c.615+75G>C - IntronicSNV - 5/5 7
22-19952132-C-G c.615+310C>G - IntronicSNV - 5/5 35
22-19952132-C-T c.615+310C>T - IntronicSNV - 5/5 36
22-19952501-C-T c.615+679C>T - IntronicSNV - 5/5 1
22-19952561-G-A c.615+739G>A - IntronicSNV - 5/5 33
22-19953059-T-C c.615+1237T>C - IntronicSNV - 5/5 2
22-19953176-C-A c.615+1354C>A - IntronicSNV - 5/5 27
22-19953176-C-T c.615+1354C>T - IntronicSNV - 5/5 27
22-19953792-A-G c.615+1970A>G - IntronicSNV - 5/5 1
22-19953832-A-G c.615+2010A>G - IntronicSNV - 5/5 14
22-19953882-T-C c.615+2060T>C - IntronicSNV - 5/5 1
22-19954458-C-T c.616-1601C>T - IntronicSNV - 5/5 20
22-19954847-G-A c.616-1212G>A - IntronicSNV - 5/5 2
22-19954847-G-T c.616-1212G>T - IntronicSNV - 5/5 2
22-19954929-T-TC c.616-1129dup - IntronicInsertion - 5/5 1
22-19955157-G-A c.616-902G>A - IntronicSNV - 5/5 3
22-19955157-G-T c.616-902G>T - IntronicSNV - 5/5 3
22-19955375-T-C c.616-684T>C - IntronicSNV - 5/5 1
22-19955375-T-G c.616-684T>G - IntronicSNV - 5/5 1
22-19955692-C-A c.616-367C>A - IntronicSNV - 5/5 51
22-19955692-C-T c.616-367C>T - IntronicSNV - 5/5 51
22-19956072-T-C c.629T>C p.L210P Missense 6/6 - 1
22-19956074-C-T c.631C>T p.R211W Missense 6/6 - 1
22-19956078-A-G c.635A>G p.K212R Missense 6/6 - 1
22-19956081-GG-AC c.638_639delinsAC p.G213D Missense 6/6 - 1
22-19956095-GC-TG c.652_653delinsTG p.A218C Missense 6/6 - 19
22-19956104-G-A c.661G>A p.V221M Missense 6/6 - 1
22-19956110-T-A c.667T>A p.C223S Missense 6/6 - 1
22-19956111-G-C c.668G>C p.C223S Missense 6/6 - 1
22-19956120-C-T c.677C>T p.A226V Missense 6/6 - 1
22-19956135-C-T c.692C>T p.A231V Missense 6/6 - 1
22-19956158-T-C c.715T>C p.F239L Missense 6/6 - 1
22-19956160-T-A c.717T>A p.F239L Missense 6/6 - 1
22-19956160-T-G c.717T>G p.F239L Missense 6/6 - 1
22-19956161-G-A c.718G>A p.E240K Missense 6/6 - 1
22-19956164-T-A c.721T>A p.C241S Missense 6/6 - 1
22-19956165-G-C c.722G>C p.C241S Missense 6/6 - 1
22-19956210-G-A c.767G>A p.G256D Missense 6/6 - 1
22-19956248-GCA-TTT c.805_807delinsTTT p.A269F Missense 6/6 - 1
22-19956553-C-G c.*294C>G - 3-UTRSNV 6/6 - 3
22-19956781-G-A c.*522G>A - 3-UTRSNV 6/6 - 145
22-19957023-C-G c.*764C>G - 3-UTRSNV 6/6 - 20
22-19957023-C-T c.*764C>T - 3-UTRSNV 6/6 - 20