SNCA synuclein alpha

Annotation transcript: NM_000345.4

426 unique variant annotations were identified in 847 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
4-90645459-T-A c.*2320A>T - 3-UTRSNV 6/6 - 1
4-90645502-T-G c.*2277A>C - 3-UTRSNV 6/6 - 1
4-90645552-G-A c.*2227C>T - 3-UTRSNV 6/6 - 1
4-90645552-G-T c.*2227C>A - 3-UTRSNV 6/6 - 1
4-90645576-C-T c.*2203G>A - 3-UTRSNV 6/6 - 1
4-90645671-T-A c.*2108A>T - 3-UTRSNV 6/6 - 8
4-90645673-C-T c.*2106G>A - 3-UTRSNV 6/6 - 1
4-90645674-C-T c.*2105G>A - 3-UTRSNV 6/6 - 8
4-90645883-G-A c.*1896C>T - 3-UTRSNV 6/6 - 1
4-90646469-T-TTAA c.*1309_*1310insTTA - 3-UTRInsertion 6/6 - 3
4-90646469-T-TTAAAA c.*1309_*1310insTTTTA - 3-UTRInsertion 6/6 - 3
4-90646492-C-A c.*1287G>T - 3-UTRSNV 6/6 - 1
4-90646492-C-G c.*1287G>C - 3-UTRSNV 6/6 - 1
4-90646492-C-T c.*1287G>A - 3-UTRSNV 6/6 - 1
4-90646532-T-A c.*1247A>T - 3-UTRSNV 6/6 - 1
4-90646790-G-A c.*989C>T - 3-UTRSNV 6/6 - 1
4-90646858-C-T c.*921G>A - 3-UTRSNV 6/6 - 1
4-90646885-C-T c.*894G>A - 3-UTRSNV 6/6 - 1
4-90646886-G-A c.*893C>T - 3-UTRSNV 6/6 - 62
4-90646919-A-T c.*860T>A - 3-UTRSNV 6/6 - 1
4-90647186-G-A c.*593C>T - 3-UTRSNV 6/6 - 1
4-90647186-G-T c.*593C>A - 3-UTRSNV 6/6 - 1
4-90647277-C-T c.*502G>A - 3-UTRSNV 6/6 - 1
4-90647278-G-A c.*501C>T - 3-UTRSNV 6/6 - 13
4-90647315-G-T c.*464C>A - 3-UTRSNV 6/6 - 2
4-90647374-G-A c.*405C>T - 3-UTRSNV 6/6 - 1
4-90647403-G-A c.*376C>T - 3-UTRSNV 6/6 - 1
4-90647576-C-T c.*203G>A - 3-UTRSNV 6/6 - 1
4-90647585-A-G c.*194T>C - 3-UTRSNV 6/6 - 1
4-90647640-A-C c.*139T>G - 3-UTRSNV 6/6 - 11
4-90647662-C-T c.*117G>A - 3-UTRSNV 6/6 - 1
4-90647702-G-A c.*77C>T - 3-UTRSNV 6/6 - 3
4-90647702-G-T c.*77C>A - 3-UTRSNV 6/6 - 3
4-90647794-G-A c.408C>T p.Y136= Synonymous 6/6 - 1
4-90647794-GT-CC c.407_408delinsGG p.Y136W Missense 6/6 - 2
4-90647795-T-A c.407A>T p.Y136F Missense 6/6 - 1
4-90647795-TA-GC c.406_407delinsGC p.Y136A Missense 6/6 - 5
4-90647795-T-C c.407A>G p.Y136C Missense 6/6 - 5
4-90647802-G-C c.400C>G p.Q134E Missense 6/6 - 1
4-90647803-AT-CC c.398_399delinsGG p.Y133W Missense 6/6 - 1
4-90647804-T-A c.398A>T p.Y133F Missense 6/6 - 1
4-90647804-TA-GC c.397_398delinsGC p.Y133A Missense 6/6 - 3
4-90647865-T-C c.391-54A>G - IntronicSNV - 5/5 1
4-90648042-T-A c.391-231A>T - IntronicSNV - 5/5 1
4-90649290-C-A c.390+1055G>T - IntronicSNV - 5/5 1
4-90649290-C-G c.390+1055G>C - IntronicSNV - 5/5 1
4-90650172-C-CT c.390+172dup - IntronicInsertion - 5/5 1
4-90650227-T-A c.390+118A>T - IntronicSNV - 5/5 1
4-90650254-A-C c.390+91T>G - IntronicSNV - 5/5 1
4-90650309-A-G c.390+36T>C - IntronicSNV - 5/5 1
4-90650348-AGA-CTC c.385_387delinsGAG p.S129E Missense 5/6 - 20
4-90650349-GA-CC c.385_386delinsGG p.S129G Missense 5/6 - 6
4-90650349-GA-TC c.385_386inv p.S129D Missense 5/6 - 22
4-90650350-A-C c.385T>G p.S129A Missense 5/6 - 46
4-90650350-A-G c.385T>C p.S129P Missense 5/6 - 2
4-90650352-G-A c.383C>T p.P128L Missense 5/6 - 1
4-90650353-G-C c.382C>G p.P128A Missense 5/6 - 1
4-90650354-C-A c.381G>T p.M127I Missense 5/6 - 1
4-90650354-C-G c.381G>C p.M127I Missense 5/6 - 1
4-90650354-C-T c.381G>A p.M127I Missense 5/6 - 4
4-90650355-AT-GC c.379_380delinsGC p.M127A Missense 5/6 - 1
4-90650361-T-A c.374A>T p.Y125F Missense 5/6 - 7
4-90650361-TA-GC c.373_374delinsGC p.Y125A Missense 5/6 - 2
4-90650362-A-C c.373T>G p.Y125D Missense 5/6 - 2
4-90650365-C-T c.370G>A p.A124T Missense 5/6 - 1
4-90650370-T-C c.365A>G p.N122S Missense 5/6 - 1
4-90650370-TT-CA c.364_365delinsTG p.N122C Missense 5/6 - 2
4-90650370-TT-GC c.364_365delinsGC p.N122A Missense 5/6 - 1
4-90650373-T-G c.362A>C p.D121A Missense 5/6 - 1
4-90650379-T-G c.356A>C p.D119A Missense 5/6 - 1
4-90650386-G-A c.349C>T p.P117S Missense 5/6 - 4
4-90650386-G-T c.349C>A p.P117T Missense 5/6 - 1
4-90650388-AT-GC c.346_347delinsGC p.M116A Missense 5/6 - 1
4-90650391-T-G c.344A>C p.D115A Missense 5/6 - 1
4-90650392-C-T c.343G>A p.D115N Missense 5/6 - 1
4-90650400-A-G c.335T>C p.I112T Missense 5/6 - 1
4-90650426-A-G c.309T>C p.N103= Synonymous 5/6 - 1
4-90650427-T-C c.308A>G p.N103S Missense 5/6 - 1
4-90650427-TT-GC c.307_308delinsGC p.N103A Missense 5/6 - 2
4-90653134-C-T c.307-2706G>A - IntronicSNV - 4/5 4
4-90653704-T-C c.307-3276A>G - IntronicSNV - 4/5 1
4-90653704-T-G c.307-3276A>C - IntronicSNV - 4/5 1
4-90654664-G-A c.307-4236C>T - IntronicSNV - 4/5 2
4-90655003-T-C c.307-4575A>G - IntronicSNV - 4/5 12
4-90657186-C-T c.307-6758G>A - IntronicSNV - 4/5 1
4-90657491-C-T c.307-7063G>A - IntronicSNV - 4/5 13
4-90663542-T-C c.307-13114A>G - IntronicSNV - 4/5 4
4-90663670-T-G c.307-13242A>C - IntronicSNV - 4/5 1
4-90664794-C-T c.307-14366G>A - IntronicSNV - 4/5 16
4-90666041-C-T c.307-15613G>A - IntronicSNV - 4/5 14
4-90666291-G-A c.307-15863C>T - IntronicSNV - 4/5 1
4-90668019-A-G c.307-17591T>C - IntronicSNV - 4/5 1
4-90668614-T-C c.307-18186A>G - IntronicSNV - 4/5 5
4-90671069-A-G c.307-20641T>C - IntronicSNV - 4/5 1
4-90671287-A-G c.307-20859T>C - IntronicSNV - 4/5 1
4-90671670-A-C c.307-21242T>G - IntronicSNV - 4/5 1
4-90671670-A-T c.307-21242T>A - IntronicSNV - 4/5 1
4-90673770-A-C c.307-23342T>G - IntronicSNV - 4/5 2
4-90673770-A-G c.307-23342T>C - IntronicSNV - 4/5 2
4-90674431-G-A c.307-24003C>T - IntronicSNV - 4/5 41
4-90674451-T-C c.307-24023A>G - IntronicSNV - 4/5 7
4-90675238-A-G c.307-24810T>C - IntronicSNV - 4/5 37
4-90675238-A-T c.307-24810T>A - IntronicSNV - 4/5 37
4-90678541-G-A c.307-28113C>T - IntronicSNV - 4/5 62
4-90678541-G-T c.307-28113C>A - IntronicSNV - 4/5 62
4-90678798-G-A c.307-28370C>T - IntronicSNV - 4/5 13
4-90682327-G-A c.307-31899C>T - IntronicSNV - 4/5 2
4-90682474-T-C c.307-32046A>G - IntronicSNV - 4/5 2
4-90682504-C-T c.307-32076G>A - IntronicSNV - 4/5 2
4-90682571-A-G c.307-32143T>C - IntronicSNV - 4/5 17
4-90683168-T-C c.307-32740A>G - IntronicSNV - 4/5 7
4-90683990-T-C c.307-33562A>G - IntronicSNV - 4/5 1
4-90683990-T-G c.307-33562A>C - IntronicSNV - 4/5 1
4-90684278-A-G c.307-33850T>C - IntronicSNV - 4/5 2
4-90684278-A-T c.307-33850T>A - IntronicSNV - 4/5 2
4-90686742-A-G c.307-36314T>C - IntronicSNV - 4/5 1
4-90686742-A-T c.307-36314T>A - IntronicSNV - 4/5 1
4-90687507-C-T c.307-37079G>A - IntronicSNV - 4/5 6
4-90687927-G-A c.307-37499C>T - IntronicSNV - 4/5 2
4-90687927-G-C c.307-37499C>G - IntronicSNV - 4/5 2
4-90688120-G-A c.307-37692C>T - IntronicSNV - 4/5 3
4-90690329-C-T c.307-39901G>A - IntronicSNV - 4/5 2
4-90691132-T-A c.307-40704A>T - IntronicSNV - 4/5 1
4-90691132-T-C c.307-40704A>G - IntronicSNV - 4/5 1
4-90691537-T-C c.307-41109A>G - IntronicSNV - 4/5 8
4-90692468-T-A c.307-42040A>T - IntronicSNV - 4/5 3
4-90692468-T-C c.307-42040A>G - IntronicSNV - 4/5 3
4-90693191-T-A c.307-42763A>T - IntronicSNV - 4/5 1
4-90693476-C-G c.307-43048G>C - IntronicSNV - 4/5 4
4-90694497-A-G c.307-44069T>C - IntronicSNV - 4/5 2
4-90694587-T-G c.307-44159A>C - IntronicSNV - 4/5 1
4-90696335-A-G c.307-45907T>C - IntronicSNV - 4/5 3
4-90696827-A-C c.307-46399T>G - IntronicSNV - 4/5 2
4-90697157-T-C c.306+46240A>G - IntronicSNV - 4/5 1
4-90700161-C-G c.306+43236G>C - IntronicSNV - 4/5 1
4-90702781-A-G c.306+40616T>C - IntronicSNV - 4/5 2
4-90703233-A-G c.306+40164T>C - IntronicSNV - 4/5 2
4-90703753-T-C c.306+39644A>G - IntronicSNV - 4/5 2
4-90704011-G-A c.306+39386C>T - IntronicSNV - 4/5 1
4-90704876-C-T c.306+38521G>A - IntronicSNV - 4/5 1
4-90705364-A-G c.306+38033T>C - IntronicSNV - 4/5 16
4-90705606-T-C c.306+37791A>G - IntronicSNV - 4/5 1
4-90707903-C-T c.306+35494G>A - IntronicSNV - 4/5 1
4-90707947-T-C c.306+35450A>G - IntronicSNV - 4/5 7
4-90707947-T-G c.306+35450A>C - IntronicSNV - 4/5 7
4-90709169-G-A c.306+34228C>T - IntronicSNV - 4/5 1
4-90709741-G-A c.306+33656C>T - IntronicSNV - 4/5 11
4-90710099-C-T c.306+33298G>A - IntronicSNV - 4/5 1
4-90711770-T-C c.306+31627A>G - IntronicSNV - 4/5 13
4-90712511-G-A c.306+30886C>T - IntronicSNV - 4/5 1
4-90712629-T-C c.306+30768A>G - IntronicSNV - 4/5 3
4-90713064-G-A c.306+30333C>T - IntronicSNV - 4/5 1
4-90713330-C-G c.306+30067G>C - IntronicSNV - 4/5 1
4-90715231-C-T c.306+28166G>A - IntronicSNV - 4/5 1
4-90716177-C-G c.306+27220G>C - IntronicSNV - 4/5 6
4-90716177-C-T c.306+27220G>A - IntronicSNV - 4/5 6
4-90716852-T-C c.306+26545A>G - IntronicSNV - 4/5 1
4-90717016-A-G c.306+26381T>C - IntronicSNV - 4/5 2
4-90718995-C-T c.306+24402G>A - IntronicSNV - 4/5 4
4-90719192-A-G c.306+24205T>C - IntronicSNV - 4/5 1
4-90719192-A-T c.306+24205T>A - IntronicSNV - 4/5 1
4-90719196-A-T c.306+24201T>A - IntronicSNV - 4/5 1
4-90720365-T-C c.306+23032A>G - IntronicSNV - 4/5 1
4-90721452-G-A c.306+21945C>T - IntronicSNV - 4/5 1
4-90721560-A-G c.306+21837T>C - IntronicSNV - 4/5 5
4-90721637-C-G c.306+21760G>C - IntronicSNV - 4/5 12
4-90721637-C-T c.306+21760G>A - IntronicSNV - 4/5 12
4-90721880-T-C c.306+21517A>G - IntronicSNV - 4/5 2
4-90721997-G-A c.306+21400C>T - IntronicSNV - 4/5 2
4-90722041-C-T c.306+21356G>A - IntronicSNV - 4/5 1
4-90722107-T-A c.306+21290A>T - IntronicSNV - 4/5 1
4-90722145-A-C c.306+21252T>G - IntronicSNV - 4/5 1
4-90722400-C-T c.306+20997G>A - IntronicSNV - 4/5 5
4-90722433-G-A c.306+20964C>T - IntronicSNV - 4/5 1
4-90722871-C-T c.306+20526G>A - IntronicSNV - 4/5 3
4-90726536-C-T c.306+16861G>A - IntronicSNV - 4/5 9
4-90727923-G-T c.306+15474C>A - IntronicSNV - 4/5 1
4-90729602-A-G c.306+13795T>C - IntronicSNV - 4/5 7
4-90729747-T-G c.306+13650A>C - IntronicSNV - 4/5 1
4-90731709-A-G c.306+11688T>C - IntronicSNV - 4/5 1
4-90733669-A-G c.306+9728T>C - IntronicSNV - 4/5 2
4-90734535-T-G c.306+8862A>C - IntronicSNV - 4/5 18
4-90734728-A-C c.306+8669T>G - IntronicSNV - 4/5 2
4-90734728-A-G c.306+8669T>C - IntronicSNV - 4/5 2
4-90734961-G-A c.306+8436C>T - IntronicSNV - 4/5 2
4-90734961-G-C c.306+8436C>G - IntronicSNV - 4/5 2
4-90736006-A-C c.306+7391T>G - IntronicSNV - 4/5 1
4-90736006-A-T c.306+7391T>A - IntronicSNV - 4/5 1
4-90736517-T-C c.306+6880A>G - IntronicSNV - 4/5 1
4-90736585-C-A c.306+6812G>T - IntronicSNV - 4/5 1
4-90736585-C-T c.306+6812G>A - IntronicSNV - 4/5 1
4-90736727-A-G c.306+6670T>C - IntronicSNV - 4/5 1
4-90736923-G-A c.306+6474C>T - IntronicSNV - 4/5 1
4-90737327-G-A c.306+6070C>T - IntronicSNV - 4/5 2
4-90738158-G-C c.306+5239C>G - IntronicSNV - 4/5 2
4-90739255-A-G c.306+4142T>C - IntronicSNV - 4/5 2
4-90739255-A-T c.306+4142T>A - IntronicSNV - 4/5 2
4-90739539-C-A c.306+3858G>T - IntronicSNV - 4/5 6
4-90739539-C-T c.306+3858G>A - IntronicSNV - 4/5 6
4-90739992-T-A c.306+3405A>T - IntronicSNV - 4/5 1
4-90740878-G-A c.306+2519C>T - IntronicSNV - 4/5 4
4-90741773-A-G c.306+1624T>C - IntronicSNV - 4/5 1
4-90741803-A-G c.306+1594T>C - IntronicSNV - 4/5 1
4-90741803-A-T c.306+1594T>A - IntronicSNV - 4/5 1
4-90742457-GA-AG c.306+939_306+940delinsCT - IntronicBlockSubstitution - 4/5 1
4-90742489-G-A c.306+908C>T - IntronicSNV - 4/5 1
4-90742476-A-AAAAGAAAGAAAGGAAAGAAAG c.306+920_306+921insCTTTCTTTCCTTTCTTTCTTT - IntronicInsertion - 4/5 1
4-90742476-A-AAAAGAAAGAAAGGAAAGAAAGT c.306+920_306+921insACTTTCTTTCCTTTCTTTCTTT - IntronicInsertion - 4/5 1
4-90742639-G-A c.306+758C>T - IntronicSNV - 4/5 1
4-90742639-G-C c.306+758C>G - IntronicSNV - 4/5 1
4-90742639-G-T c.306+758C>A - IntronicSNV - 4/5 1
4-90742692-A-G c.306+705T>C - IntronicSNV - 4/5 1
4-90742815-G-A c.306+582C>T - IntronicSNV - 4/5 2
4-90742815-G-T c.306+582C>A - IntronicSNV - 4/5 2
4-90743317-T-TC c.306+79dup - IntronicInsertion - 4/5 2
4-90743331-C-T c.306+66G>A - IntronicSNV - 4/5 8
4-90743398-T-C c.305A>G p.K102R Missense 4/6 - 1
4-90743400-G-A c.303C>T p.G101= Synonymous 4/6 - 1
4-90743403-CA-AC c.299_300delinsGT p.L100C Missense 4/6 - 1
4-90743403-CAA-GAT c.298_300delinsATC p.L100I Missense 4/6 - 1
4-90743406-C-A c.297G>T p.Q99H Missense 4/6 - 1
4-90743406-C-G c.297G>C p.Q99H Missense 4/6 - 1
4-90743406-CTG-ACA c.295_297delinsTGT p.Q99C Missense 4/6 - 1
4-90743407-TG-GC c.295_296delinsGC p.Q99A Missense 4/6 - 1
4-90743410-T-G c.293A>C p.D98A Missense 4/6 - 1
4-90743413-T-C c.290A>G p.K97R Missense 4/6 - 1
4-90743415-TTT-ACA c.286_288delinsTGT p.K96C Missense 4/6 - 1
4-90743416-T-A c.287A>T p.K96I Missense 4/6 - 1
4-90743416-T-C c.287A>G p.K96R Missense 4/6 - 3
4-90743419-A-C c.284T>G p.V95G Missense 4/6 - 1
4-90743421-AA-CC c.281_282delinsGG p.F94W Missense 4/6 - 2
4-90743425-C-G c.278G>C p.G93A Missense 4/6 - 49
4-90743427-AG-CT c.275_276inv p.T92K Missense 4/6 - 1
4-90743428-GT-AG c.274_275delinsCT p.T92L Missense 4/6 - 1
4-90743433-TGC-ACA c.268_270delinsTGT p.A90C Missense 4/6 - 6
4-90743442-GCT-CTC c.259_261delinsGAG p.S87E Missense 4/6 - 4
4-90743443-C-T c.260G>A p.S87N Missense 4/6 - 1
4-90743443-CT-GC c.259_260delinsGC p.S87A Missense 4/6 - 3
4-90743443-CT-GG c.259_260delinsCC p.S87P Missense 4/6 - 1
4-90743444-T-A c.259A>T p.S87C Missense 4/6 - 2
4-90743445-CCC-GCT c.256_258delinsAGC p.G86S Missense 4/6 - 1
4-90743448-CT-C c.255del p.S87Afs*67 Frameshift 4/6 - 2
4-90743448-T-A c.255A>T p.A85= Synonymous 4/6 - 1
4-90743448-T-C c.255A>G p.A85= Synonymous 4/6 - 1
4-90743448-T-G c.255A>C p.A85= Synonymous 4/6 - 1
4-90743450-C-G c.253G>C p.A85P Missense 4/6 - 1
4-90743451-TCC-ACA c.250_252delinsTGT p.G84C Missense 4/6 - 1
4-90743452-CC-AT c.250_251delinsAT p.G84I Missense 4/6 - 1
4-90743455-TC-CT c.247_248delinsAG p.E83R Missense 4/6 - 1
4-90743455-TC-GG c.247_248delinsCC p.E83P Missense 4/6 - 1
4-90743455-T-G c.248A>C p.E83A Missense 4/6 - 2
4-90743456-C-G c.247G>C p.E83Q Missense 4/6 - 6
4-90743461-G-T c.242C>A p.T81K Missense 4/6 - 1
4-90743464-T-A c.239A>T p.K80M Missense 4/6 - 1
4-90743464-T-C c.239A>G p.K80R Missense 4/6 - 1
4-90743467-T-A c.236A>T p.Q79L Missense 4/6 - 1
4-90743467-TG-GC c.235_236delinsGC p.Q79A Missense 4/6 - 1
4-90743470-GC-CA c.232_233delinsTG p.A78C Missense 4/6 - 1
4-90743474-C-T c.229G>A p.V77I Missense 4/6 - 1
4-90743476-G-A c.227C>T p.A76V Missense 4/6 - 1
4-90743476-G-C c.227C>G p.A76G Missense 4/6 - 1
4-90743476-G-T c.227C>A p.A76E Missense 4/6 - 1
4-90743477-C-G c.226G>C p.A76P Missense 4/6 - 5
4-90743481-CAC-ATA c.220_222delinsTAT p.V74Y Missense 4/6 - 1
4-90743487-CGT-ACA c.214_216delinsTGT p.T72C Missense 4/6 - 1
4-90743487-CGT-GTC c.214_216delinsGAC p.T72D Missense 4/6 - 1
4-90743487-C-T c.216G>A p.T72= Synonymous 4/6 - 1
4-90743488-G-A c.215C>T p.T72M Missense 4/6 - 1
4-90743488-GT-TC c.214_215delinsGA p.T72E Missense 4/6 - 1
4-90743489-T-C c.214A>G p.T72A Missense 4/6 - 2
4-90743495-C-T c.208G>A p.V70M Missense 4/6 - 10
4-90743500-C-T c.203G>A p.G68E Missense 4/6 - 1
4-90743505-AAC-CAT c.196_198delinsATG p.V66M Missense 4/6 - 1
4-90743509-T-A c.194A>T p.N65I Missense 4/6 - 1
4-90743509-TT-GC c.193_194delinsGC p.N65A Missense 4/6 - 1
4-90743517-TTG-ACA c.184_186delinsTGT p.Q62C Missense 4/6 - 1
4-90743519-G-A c.184C>T p.Q62* Nonsense 4/6 - 1
4-90743519-G-T c.184C>A p.Q62K Missense 4/6 - 1
4-90743520-CTC-GAT c.181_183delinsATC p.E61I Missense 4/6 - 1
4-90743521-TC-AG c.181_182delinsCT p.E61L Missense 4/6 - 1
4-90743522-C-T c.181G>A p.E61K Missense 4/6 - 9
4-90743526-GG-CT c.176_177delinsAG p.T59K Missense 4/6 - 1
4-90743532-C-A c.171G>T p.E57D Missense 4/6 - 2
4-90743532-C-G c.171G>C p.E57D Missense 4/6 - 2
4-90743532-CTC-ACA c.169_171delinsTGT p.E57C Missense 4/6 - 1
4-90743534-C-T c.169G>A p.E57K Missense 4/6 - 20
4-90743536-GC-CA c.166_167delinsTG p.A56C Missense 4/6 - 1
4-90743537-C-G c.166G>C p.A56P Missense 4/6 - 5
4-90743821-G-A c.164-282C>T - IntronicSNV - 3/5 1
4-90744993-C-A c.164-1454G>T - IntronicSNV - 3/5 1
4-90744993-C-T c.164-1454G>A - IntronicSNV - 3/5 1
4-90745456-A-C c.164-1917T>G - IntronicSNV - 3/5 1
4-90745707-G-A c.164-2168C>T - IntronicSNV - 3/5 5
4-90745930-C-T c.164-2391G>A - IntronicSNV - 3/5 2
4-90746133-T-C c.164-2594A>G - IntronicSNV - 3/5 1
4-90746329-T-C c.164-2790A>G - IntronicSNV - 3/5 1
4-90746466-G-A c.163+2828C>T - IntronicSNV - 3/5 1
4-90746836-A-G c.163+2458T>C - IntronicSNV - 3/5 1
4-90747183-G-A c.163+2111C>T - IntronicSNV - 3/5 1
4-90747751-C-T c.163+1543G>A - IntronicSNV - 3/5 1
4-90748195-T-A c.163+1099A>T - IntronicSNV - 3/5 1
4-90748195-T-C c.163+1099A>G - IntronicSNV - 3/5 1
4-90748488-T-C c.163+806A>G - IntronicSNV - 3/5 1
4-90748646-C-G c.163+648G>C - IntronicSNV - 3/5 1
4-90748646-C-T c.163+648G>A - IntronicSNV - 3/5 1
4-90749132-A-T c.163+162T>A - IntronicSNV - 3/5 1
4-90749136-A-T c.163+158T>A - IntronicSNV - 3/5 1
4-90749298-TGC-AAA c.157_159delinsTTT p.A53F Missense 3/6 - 1
4-90749298-TGC-ACA c.157_159delinsTGT p.A53C Missense 3/6 - 1
4-90749299-G-A c.158C>T p.A53V Missense 3/6 - 32
4-90749299-GC-TT c.157_158delinsAA p.A53K Missense 3/6 - 1
4-90749299-G-T c.158C>A p.A53E Missense 3/6 - 194
4-90749300-C-G c.157G>C p.A53P Missense 3/6 - 4
4-90749300-C-T c.157G>A p.A53T Missense 3/6 - 1251
4-90749305-CC-TT c.151_152delinsAA p.G51N Missense 3/6 - 3
4-90749305-C-G c.152G>C p.G51A Missense 3/6 - 1
4-90749305-C-T c.152G>A p.G51D Missense 3/6 - 345
4-90749307-A-C c.150T>G p.H50Q Missense 3/6 - 327
4-90749307-A-T c.150T>A p.H50Q Missense 3/6 - 233
4-90749307-ATG-CTT c.148_150delinsAAG p.H50K Missense 3/6 - 2
4-90749308-T-C c.149A>G p.H50R Missense 3/6 - 3
4-90749308-TG-GC c.148_149delinsGC p.H50A Missense 3/6 - 4
4-90749309-G-C c.148C>G p.H50D Missense 3/6 - 2
4-90749309-G-T c.148C>A p.H50N Missense 3/6 - 1
4-90749311-A-T c.146T>A p.V49E Missense 3/6 - 1
4-90749319-C-A c.138G>T p.E46D Missense 3/6 - 1
4-90749319-C-G c.138G>C p.E46D Missense 3/6 - 1
4-90749320-TC-GG c.136_137delinsCC p.E46P Missense 3/6 - 1
4-90749321-C-T c.136G>A p.E46K Missense 3/6 - 643
4-90749325-GG-CT c.131_132delinsAG p.T44K Missense 3/6 - 1
4-90749327-T-G c.130A>C p.T44P Missense 3/6 - 1
4-90749328-TTT-ACA c.127_129delinsTGT p.K43C Missense 3/6 - 1
4-90749332-G-C c.125C>G p.S42C Missense 3/6 - 1
4-90749332-G-T c.125C>A p.S42Y Missense 3/6 - 1
4-90749333-A-C c.124T>G p.S42A Missense 3/6 - 1
4-90749368-G-A c.122-33C>T - IntronicSNV - 2/5 1
4-90749368-G-T c.122-33C>A - IntronicSNV - 2/5 1
4-90749463-G-GAAAAAAA c.122-135_122-129dup - IntronicInsertion - 2/5 1
4-90749463-G-GAAAAAA c.122-134_122-129dup - IntronicInsertion - 2/5 1
4-90749463-G-GAAAAA c.122-133_122-129dup - IntronicInsertion - 2/5 1
4-90749463-G-GAAAA c.122-132_122-129dup - IntronicInsertion - 2/5 1
4-90749463-G-GAAA c.122-131_122-129dup - IntronicInsertion - 2/5 1
4-90749463-G-GAA c.122-130_122-129dup - IntronicInsertion - 2/5 1
4-90749463-G-GA c.122-129dup - IntronicInsertion - 2/5 1
4-90749686-A-G c.122-351T>C - IntronicSNV - 2/5 2
4-90750326-A-C c.122-991T>G - IntronicSNV - 2/5 2
4-90750722-A-G c.122-1387T>C - IntronicSNV - 2/5 1
4-90753477-G-A c.121+3221C>T - IntronicSNV - 2/5 1
4-90754292-T-C c.121+2406A>G - IntronicSNV - 2/5 1
4-90755730-G-A c.121+968C>T - IntronicSNV - 2/5 1
4-90755909-G-A c.121+789C>T - IntronicSNV - 2/5 1
4-90755939-A-G c.121+759T>C - IntronicSNV - 2/5 5
4-90756077-T-G c.121+621A>C - IntronicSNV - 2/5 2
4-90756191-C-T c.121+507G>A - IntronicSNV - 2/5 1
4-90756421-G-C c.121+277C>G - IntronicSNV - 2/5 2
4-90756445-C-A c.121+253G>T - IntronicSNV - 2/5 1
4-90756550-C-A c.121+148G>T - IntronicSNV - 2/5 7
4-90756550-C-G c.121+148G>C - IntronicSNV - 2/5 8
4-90756699-TAC-ACA c.118_120delinsTGT p.V40C Missense 2/6 - 1
4-90756702-ATA-CTC c.115_117delinsGAG p.Y39E Missense 2/6 - 1
4-90756702-AT-CC c.116_117delinsGG p.Y39W Missense 2/6 - 1
4-90756703-T-A c.116A>T p.Y39F Missense 2/6 - 3
4-90756703-TA-GC c.115_116delinsGC p.Y39A Missense 2/6 - 3
4-90756703-T-C c.116A>G p.Y39C Missense 2/6 - 6
4-90756707-G-C c.112C>G p.L38V Missense 2/6 - 1
4-90756707-G-T c.112C>A p.L38I Missense 2/6 - 1
4-90756710-C-T c.109G>A p.V37I Missense 2/6 - 1
4-90756716-C-T c.103G>A p.E35K Missense 2/6 - 16
4-90756717-TTT-ACA c.100_102delinsTGT p.K34C Missense 2/6 - 1
4-90756720-TGT-ACA c.97_99inv p.T33C Missense 2/6 - 1
4-90756721-G-T c.98C>A p.T33K Missense 2/6 - 1
4-90756723-CTT-ACA c.94_96delinsTGT p.K32C Missense 2/6 - 1
4-90756727-C-G c.92G>C p.G31A Missense 2/6 - 1
4-90756730-G-C c.89C>G p.A30G Missense 2/6 - 8
4-90756730-G-T c.89C>A p.A30E Missense 2/6 - 1
4-90756731-C-G c.88G>C p.A30P Missense 2/6 - 828
4-90756731-C-T c.88G>A p.A30T Missense 2/6 - 7
4-90756733-G-A c.86C>T p.A29V Missense 2/6 - 1
4-90756733-G-T c.86C>A p.A29E Missense 2/6 - 2
4-90756734-C-A c.85G>T p.A29S Missense 2/6 - 28
4-90756734-C-T c.85G>A p.A29T Missense 2/6 - 1
4-90756735-TTC-ACA c.82_84delinsTGT p.E28C Missense 2/6 - 1
4-90756738-TGC-ACA c.79_81delinsTGT p.A27C Missense 2/6 - 1
4-90756740-C-A c.79G>T p.A27S Missense 2/6 - 1
4-90756741-CAC-ACA c.76_78delinsTGT p.V26C Missense 2/6 - 1
4-90756741-CAC-GAT c.76_78delinsATC p.V26I Missense 2/6 - 1
4-90756747-CTG-ACA c.70_72delinsTGT p.Q24C Missense 2/6 - 2
4-90756750-TTT-ACA c.67_69delinsTGT p.K23C Missense 2/6 - 1
4-90756752-T-G c.67A>C p.K23Q Missense 2/6 - 1
4-90756753-GG-CA c.65_66delinsTG p.T22M Missense 2/6 - 1
4-90756753-GG-CT c.65_66delinsAG p.T22K Missense 2/6 - 1
4-90756756-TTT-ACA c.61_63delinsTGT p.K21C Missense 2/6 - 1
4-90756759-CTC-AAA c.58_60delinsTTT p.E20F Missense 2/6 - 1
4-90756759-CTC-ACA c.58_60delinsTGT p.E20C Missense 2/6 - 4
4-90756760-TC-CT c.58_59delinsAG p.E20R Missense 2/6 - 1
4-90756766-GC-CA c.52_53delinsTG p.A18C Missense 2/6 - 2
4-90756766-G-T c.53C>A p.A18D Missense 2/6 - 1
4-90756767-C-A c.52G>T p.A18S Missense 2/6 - 1
4-90756767-C-T c.52G>A p.A18T Missense 2/6 - 30
4-90756771-CAC-ACA c.46_48delinsTGT p.V16C Missense 2/6 - 1
4-90756771-CAC-GAT c.46_48delinsATC p.V16I Missense 2/6 - 2
4-90756772-A-G c.47T>C p.V16A Missense 2/6 - 1
4-90756775-A-G c.44T>C p.V15A Missense 2/6 - 1
4-90756775-A-T c.44T>A p.V15D Missense 2/6 - 2
4-90756783-CTT-ACA c.34_36delinsTGT p.K12C Missense 2/6 - 1
4-90756784-TT-GC c.34_35delinsGC p.K12A Missense 2/6 - 1
4-90756788-C-G c.31G>C p.A11P Missense 2/6 - 1
4-90756789-CTT-ACA c.28_30delinsTGT p.K10C Missense 2/6 - 1
4-90756791-T-C c.28A>G p.K10E Missense 2/6 - 1
4-90756797-G-T c.22C>A p.L8I Missense 2/6 - 1
4-90756805-A-G c.14T>C p.M5T Missense 2/6 - 2
4-90756813-A-G c.6T>C p.D2= Synonymous 2/6 - 1
4-90757272-G-A c.-25-429C>T - IntronicSNV - 1/5 6
4-90757294-A-C c.-25-451T>G - IntronicSNV - 1/5 1
4-90757309-A-G c.-25-466T>C - IntronicSNV - 1/5 4
4-90757312-C-T c.-25-469G>A - IntronicSNV - 1/5 1
4-90757394-G-C c.-25-551C>G - IntronicSNV - 1/5 19
4-90757505-T-C c.-26+608A>G - intron_variant - 1/5 14
4-90757735-C-A c.-26+378G>T - intron_variant - 1/5 5
4-90757840-T-C c.-26+273A>G - intron_variant - 1/5 4
4-90757845-C-A c.-26+268G>T - intron_variant - 1/5 4
4-90757845-C-T c.-26+268G>A - intron_variant - 1/5 4
4-90757947-T-A c.-26+166A>T - intron_variant - 1/5 2
4-90757948-T-A c.-26+165A>T - intron_variant - 1/5 1
4-90758225-G-C c.-138C>G - 5_prime_UTR_variant 1/6 - 1
4-90758225-G-T c.-138C>A - 5_prime_UTR_variant 1/6 - 1