SNCA synuclein alpha

Canonical transcript: NM_000345

308 unique variant annotations were identified in 559 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
4-90645671-T-A c.*2108A>T - 3-UTRSNV 6/6 - 3
4-90645674-C-T c.*2105G>A - 3-UTRSNV 6/6 - 3
4-90646469-T-TTAA c.*1309_*1310insTTA - 3-UTRInsertion 6/6 - 1
4-90646469-T-TTAAAA c.*1309_*1310insTTTTA - 3-UTRInsertion 6/6 - 1
4-90646532-T-A c.*1247A>T - 3-UTRSNV 6/6 - 1
4-90646886-G-A c.*893C>T - 3-UTRSNV 6/6 - 50
4-90647186-G-A c.*593C>T - 3-UTRSNV 6/6 - 1
4-90647186-G-T c.*593C>A - 3-UTRSNV 6/6 - 1
4-90647278-G-A c.*501C>T - 3-UTRSNV 6/6 - 10
4-90647315-G-T c.*464C>A - 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 - 9
4-90647702-G-A c.*77C>T - 3-UTRSNV 6/6 - 2
4-90647702-G-T c.*77C>A - 3-UTRSNV 6/6 - 2
4-90647794-G-A c.408C>T p.Tyr136Tyr Synonymous 6/6 - 1
4-90647794-GT-GG c.407delinsC p.Tyr136Ser Missense 6/6 - 1
4-90647795-TA-GC c.406_407delinsGC p.Tyr136Ala Missense 6/6 - 4
4-90647795-T-C c.407A>G p.Tyr136Cys Missense 6/6 - 2
4-90647804-TA-GC c.397_398delinsGC p.Tyr133Ala Missense 6/6 - 1
4-90647865-T-C c.391-54A>G - 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
4-90650348-AGA-GAG c.385_387delinsCTC p.Ser129Leu Missense 5/6 - 11
4-90650349-GA-GG c.385delinsC p.Ser129Pro Missense 5/6 - 5
4-90650350-A-C c.385T>G p.Ser129Ala Missense 5/6 - 32
4-90650350-A-G c.385T>C p.Ser129Pro Missense 5/6 - 2
4-90650352-G-A c.383C>T p.Pro128Leu Missense 5/6 - 1
4-90650355-AT-GC c.379_380delinsGC p.Met127Ala Missense 5/6 - 1
4-90650361-T-A c.374A>T p.Tyr125Phe Missense 5/6 - 8
4-90650361-TA-GC c.373_374delinsGC p.Tyr125Ala Missense 5/6 - 2
4-90650362-A-C c.373T>G p.Tyr125Asp Missense 5/6 - 2
4-90650370-TT-TG c.364delinsC p.Asn122His Missense 5/6 - 1
4-90650373-T-G c.362A>C p.Asp121Ala Missense 5/6 - 1
4-90650379-T-G c.356A>C p.Asp119Ala Missense 5/6 - 1
4-90650388-AT-GC c.346_347delinsGC p.Met116Ala Missense 5/6 - 1
4-90650391-T-G c.344A>C p.Asp115Ala Missense 5/6 - 1
4-90650427-T-C c.308A>G p.Asn103Ser Missense 5/6 - 1
4-90650427-TT-GC c.307_308delinsGC p.Asn103Ala Missense 5/6 - 2
4-90653134-C-T c.307-2706G>A - IntronicSNV - 4/5 3
4-90654664-G-A c.307-4236C>T - IntronicSNV - 4/5 1
4-90655003-T-C c.307-4575A>G - IntronicSNV - 4/5 9
4-90657186-C-T c.307-6758G>A - IntronicSNV - 4/5 1
4-90657491-C-T c.307-7063G>A - IntronicSNV - 4/5 11
4-90663542-T-C c.307-13114A>G - IntronicSNV - 4/5 4
4-90664794-C-T c.307-14366G>A - IntronicSNV - 4/5 12
4-90666041-C-T c.307-15613G>A - IntronicSNV - 4/5 8
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 4
4-90671069-A-G c.307-20641T>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 1
4-90673770-A-G c.307-23342T>C - IntronicSNV - 4/5 1
4-90674431-G-A c.307-24003C>T - IntronicSNV - 4/5 27
4-90674451-T-C c.307-24023A>G - IntronicSNV - 4/5 4
4-90675238-A-G c.307-24810T>C - IntronicSNV - 4/5 26
4-90675238-A-T c.307-24810T>A - IntronicSNV - 4/5 26
4-90678541-G-A c.307-28113C>T - IntronicSNV - 4/5 49
4-90678541-G-T c.307-28113C>A - IntronicSNV - 4/5 49
4-90678798-G-A c.307-28370C>T - IntronicSNV - 4/5 11
4-90682327-G-A c.307-31899C>T - 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 12
4-90683168-T-C c.307-32740A>G - IntronicSNV - 4/5 6
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 1
4-90684278-A-T c.307-33850T>A - IntronicSNV - 4/5 1
4-90687507-C-T c.307-37079G>A - IntronicSNV - 4/5 5
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 1
4-90690329-C-T c.307-39901G>A - IntronicSNV - 4/5 1
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 3
4-90694497-A-G c.307-44069T>C - IntronicSNV - 4/5 1
4-90694587-T-G c.307-44159A>C - IntronicSNV - 4/5 1
4-90696335-A-G c.307-45907T>C - IntronicSNV - 4/5 2
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 1
4-90703233-A-G c.306+40164T>C - IntronicSNV - 4/5 2
4-90703753-T-C c.306+39644A>G - IntronicSNV - 4/5 1
4-90705364-A-G c.306+38033T>C - IntronicSNV - 4/5 15
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 8
4-90710099-C-T c.306+33298G>A - IntronicSNV - 4/5 1
4-90711770-T-C c.306+31627A>G - IntronicSNV - 4/5 11
4-90712511-G-A c.306+30886C>T - IntronicSNV - 4/5 1
4-90712629-T-C c.306+30768A>G - IntronicSNV - 4/5 2
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 5
4-90716177-C-T c.306+27220G>A - IntronicSNV - 4/5 5
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 1
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
4-90721560-A-G c.306+21837T>C - IntronicSNV - 4/5 3
4-90721637-C-G c.306+21760G>C - IntronicSNV - 4/5 10
4-90721637-C-T c.306+21760G>A - IntronicSNV - 4/5 10
4-90721880-T-C c.306+21517A>G - IntronicSNV - 4/5 1
4-90721997-G-A c.306+21400C>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 1
4-90722433-G-A c.306+20964C>T - IntronicSNV - 4/5 1
4-90722871-C-T c.306+20526G>A - IntronicSNV - 4/5 2
4-90726536-C-T c.306+16861G>A - IntronicSNV - 4/5 7
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 13
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 1
4-90738158-G-C c.306+5239C>G - IntronicSNV - 4/5 1
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 3
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
4-90742494-A-AAAGAAAGAAAGAAAGGAAAGA c.306+920_306+921insCTTTCTTTCCTTTCTTTCTTT - IntronicInsertion - 4/5 1
4-90742494-A-AAAGTAAAGAAAGAAAGGAAAGA 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 1
4-90742815-G-T c.306+582C>A - IntronicSNV - 4/5 1
4-90743319-C-CC c.306+79dup - IntronicInsertion - 4/5 2
4-90743331-C-T c.306+66G>A - IntronicSNV - 4/5 4
4-90743403-CAA-ATC c.298_300delinsGAT p.Leu100Asp Missense 4/6 - 1
4-90743403-CA-GT c.299_300delinsAC p.Leu100Tyr Missense 4/6 - 1
4-90743406-C-A c.297G>T p.Gln99His Missense 4/6 - 1
4-90743406-C-G c.297G>C p.Gln99His Missense 4/6 - 1
4-90743407-TG-GC c.295_296delinsGC p.Gln99Ala Missense 4/6 - 1
4-90743410-T-G c.293A>C p.Asp98Ala Missense 4/6 - 1
4-90743416-T-A c.287A>T p.Lys96Ile Missense 4/6 - 1
4-90743416-T-C c.287A>G p.Lys96Arg Missense 4/6 - 3
4-90743419-A-C c.284T>G p.Val95Gly Missense 4/6 - 1
4-90743421-AA-GG c.281_282delinsCC p.Phe94Ser Missense 4/6 - 2
4-90743425-C-G c.278G>C p.Gly93Ala Missense 4/6 - 32
4-90743428-GT-CT c.275delinsG p.Thr92Ser Missense 4/6 - 1
4-90743433-TGC-TGT c.268delinsA p.Ala90Thr Missense 4/6 - 3
4-90743442-GCT-GAG c.259_260delinsCT p.Ser87Leu Missense 4/6 - 3
4-90743443-C-T c.260G>A p.Ser87Asn Missense 4/6 - 1
4-90743443-CT-GC c.259_260delinsGC p.Ser87Ala Missense 4/6 - 2
4-90743444-T-A c.259A>T p.Ser87Cys Missense 4/6 - 1
4-90743450-C-G c.253G>C p.Ala85Pro Missense 4/6 - 1
4-90743451-TCC-TGT c.250_251delinsAC p.Gly84Thr Missense 4/6 - 1
4-90743452-CC-AT c.250_251delinsAT p.Gly84Ile Missense 4/6 - 1
4-90743455-TC-AG c.247_248delinsCT p.Glu83Leu Missense 4/6 - 1
4-90743455-TC-CC c.248delinsG p.Glu83Gly Missense 4/6 - 1
4-90743455-T-G c.248A>C p.Glu83Ala Missense 4/6 - 2
4-90743461-G-T c.242C>A p.Thr81Lys Missense 4/6 - 1
4-90743464-T-C c.239A>G p.Lys80Arg Missense 4/6 - 1
4-90743467-T-A c.236A>T p.Gln79Leu Missense 4/6 - 1
4-90743467-TG-GC c.235_236delinsGC p.Gln79Ala Missense 4/6 - 1
4-90743474-C-T c.229G>A p.Val77Ile Missense 4/6 - 1
4-90743476-G-A c.227C>T p.Ala76Val Missense 4/6 - 1
4-90743476-G-C c.227C>G p.Ala76Gly Missense 4/6 - 1
4-90743476-G-T c.227C>A p.Ala76Glu Missense 4/6 - 1
4-90743477-C-G c.226G>C p.Ala76Pro Missense 4/6 - 7
4-90743481-CAC-TAT c.220_222delinsATA p.Val74Ile Missense 4/6 - 1
4-90743487-CGT-GAC c.214_216delinsGTC p.Thr72Val Missense 4/6 - 1
4-90743487-CGT-TGT c.216delinsA p.Thr72Thr Missense 4/6 - 1
4-90743487-C-T c.216G>A p.Thr72Thr Synonymous 4/6 - 1
4-90743489-T-C c.214A>G p.Thr72Ala Missense 4/6 - 1
4-90743495-C-T c.208G>A p.Val70Met Missense 4/6 - 4
4-90743500-C-T c.203G>A p.Gly68Glu Missense 4/6 - 1
4-90743509-T-A c.194A>T p.Asn65Ile Missense 4/6 - 1
4-90743509-TT-GC c.193_194delinsGC p.Asn65Ala Missense 4/6 - 1
4-90743517-TTG-TGT c.184_185delinsAC p.Gln62Thr Missense 4/6 - 1
4-90743520-CTC-ATC c.183delinsT p.Glu61Asp Missense 4/6 - 1
4-90743521-TC-CT c.181_182delinsAG p.Glu61Arg Missense 4/6 - 1
4-90743522-C-T c.181G>A p.Glu61Lys Missense 4/6 - 5
4-90743526-GG-AG c.177delinsT p.Thr59Thr Missense 4/6 - 1
4-90743532-CTC-TGT c.169_171delinsACA p.Glu57Thr Missense 4/6 - 1
4-90743534-C-T c.169G>A p.Glu57Lys Missense 4/6 - 12
4-90743536-GC-TG c.166_167delinsCA p.Ala56His Missense 4/6 - 1
4-90743537-C-G c.166G>C p.Ala56Pro Missense 4/6 - 9
4-90745456-A-C c.164-1917T>G - IntronicSNV - 3/5 1
4-90745707-G-A c.164-2168C>T - IntronicSNV - 3/5 4
4-90745930-C-T c.164-2391G>A - IntronicSNV - 3/5 1
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
4-90749298-TGC-TTT c.157_158delinsAA p.Ala53Lys Missense 3/6 - 1
4-90749299-G-A c.158C>T p.Ala53Val Missense 3/6 - 7
4-90749299-GC-AA c.157_158delinsTT p.Ala53Leu Missense 3/6 - 1
4-90749299-G-T c.158C>A p.Ala53Glu Missense 3/6 - 103
4-90749300-C-G c.157G>C p.Ala53Pro Missense 3/6 - 3
4-90749300-C-T c.157G>A p.Ala53Thr Missense 3/6 - 742
4-90749305-CC-AA c.151_152delinsTT p.Gly51Phe Missense 3/6 - 3
4-90749305-C-G c.152G>C p.Gly51Ala Missense 3/6 - 1
4-90749305-C-T c.152G>A p.Gly51Asp Missense 3/6 - 189
4-90749307-A-C c.150T>G p.His50Gln Missense 3/6 - 189
4-90749307-ATG-AAG c.149delinsT p.His50Leu Missense 3/6 - 2
4-90749308-T-C c.149A>G p.His50Arg Missense 3/6 - 3
4-90749308-TG-GC c.148_149delinsGC p.His50Ala Missense 3/6 - 4
4-90749309-G-C c.148C>G p.His50Asp Missense 3/6 - 2
4-90749311-A-T c.146T>A p.Val49Glu Missense 3/6 - 1
4-90749319-C-A c.138G>T p.Glu46Asp Missense 3/6 - 1
4-90749319-C-G c.138G>C p.Glu46Asp Missense 3/6 - 1
4-90749321-C-T c.136G>A p.Glu46Lys Missense 3/6 - 392
4-90749325-GG-AG c.132delinsT p.Thr44Thr Missense 3/6 - 1
4-90749332-G-C c.125C>G p.Ser42Cys Missense 3/6 - 1
4-90749333-A-C c.124T>G p.Ser42Ala Missense 3/6 - 1
4-90749464-AAAAAAA-AAAAAAAAAAAAAA c.122-135_122-129dup - IntronicInsertion - 2/5 1
4-90749465-AAAAAA-AAAAAAAAAAAA c.122-134_122-129dup - IntronicInsertion - 2/5 1
4-90749466-AAAAA-AAAAAAAAAA c.122-133_122-129dup - IntronicInsertion - 2/5 1
4-90749467-AAAA-AAAAAAAA c.122-132_122-129dup - IntronicInsertion - 2/5 1
4-90749468-AAA-AAAAAA c.122-131_122-129dup - IntronicInsertion - 2/5 1
4-90749469-AA-AAAA c.122-130_122-129dup - IntronicInsertion - 2/5 1
4-90749470-A-AA 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
4-90753477-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
4-90756550-C-A c.121+148G>T - IntronicSNV - 2/5 3
4-90756550-C-G c.121+148G>C - IntronicSNV - 2/5 3
4-90756699-TAC-TGT c.118_119delinsAC p.Val40Thr Missense 2/6 - 1
4-90756702-AT-GG c.116_117delinsCC p.Tyr39Ser Missense 2/6 - 1
4-90756703-T-A c.116A>T p.Tyr39Phe Missense 2/6 - 2
4-90756703-TA-GC c.115_116delinsGC p.Tyr39Ala Missense 2/6 - 3
4-90756703-T-C c.116A>G p.Tyr39Cys Missense 2/6 - 5
4-90756707-G-C c.112C>G p.Leu38Val Missense 2/6 - 1
4-90756710-C-T c.109G>A p.Val37Ile Missense 2/6 - 1
4-90756716-C-T c.103G>A p.Glu35Lys Missense 2/6 - 9
4-90756718-T-C c.101A>G p.Lys34Arg Missense 2/6 - 1
4-90756721-G-T c.98C>A p.Thr33Lys Missense 2/6 - 1
4-90756731-C-G c.88G>C p.Ala30Pro Missense 2/6 - 539
4-90756731-C-T c.88G>A p.Ala30Thr Missense 2/6 - 3
4-90756733-G-A c.86C>T p.Ala29Val Missense 2/6 - 1
4-90756733-G-T c.86C>A p.Ala29Glu Missense 2/6 - 2
4-90756734-C-A c.85G>T p.Ala29Ser Missense 2/6 - 11
4-90756734-C-T c.85G>A p.Ala29Thr Missense 2/6 - 1
4-90756738-TGC-TGT c.79delinsA p.Ala27Thr Missense 2/6 - 1
4-90756747-CTG-TGT c.70_72delinsACA p.Gln24Thr Missense 2/6 - 1
4-90756752-T-G c.67A>C p.Lys23Gln Missense 2/6 - 1
4-90756753-GG-AG c.66delinsT p.Thr22Thr Missense 2/6 - 1
4-90756753-GG-TG c.66delinsA p.Thr22Thr Missense 2/6 - 1
4-90756759-CTC-TGT c.58_60delinsACA p.Glu20Thr Missense 2/6 - 3
4-90756759-CTC-TTT c.58_60delinsAAA p.Glu20Lys Missense 2/6 - 1
4-90756760-TC-AG c.58_59delinsCT p.Glu20Leu Missense 2/6 - 1
4-90756766-GC-TG c.52_53delinsCA p.Ala18His Missense 2/6 - 2
4-90756766-G-T c.53C>A p.Ala18Asp Missense 2/6 - 1
4-90756767-C-A c.52G>T p.Ala18Ser Missense 2/6 - 1
4-90756767-C-T c.52G>A p.Ala18Thr Missense 2/6 - 13
4-90756771-CAC-ATC c.47_48delinsAT p.Val16Asp Missense 2/6 - 1
4-90756771-CAC-TGT c.46_48delinsACA p.Val16Thr Missense 2/6 - 1
4-90757272-G-A c.-25-429C>T - IntronicSNV - 1/5 4
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 17
4-90757505-T-C c.-26+608A>G - intron_variant - 1/5 12
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 3
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