PHACTR3

PHACTR3 phosphatase and actin regulator 3

Annotation transcript: NM_080672.5

863 unique variant annotations were identified in 331 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
20-58179997-G-A c.-73G>A - 5-UTRSNV 1/13 - 1
20-58180014-C-G c.-56C>G - 5-UTRSNV 1/13 - 1
20-58180014-C-T c.-56C>T - 5-UTRSNV 1/13 - 1
20-58180074-C-T c.5C>T p.A2V Missense 1/13 - 2
20-58180075-C-A c.6C>A p.A2= Synonymous 1/13 - 1
20-58180075-C-G c.6C>G p.A2= Synonymous 1/13 - 3
20-58180075-C-T c.6C>T p.A2= Synonymous 1/13 - 1
20-58180078-G-A c.9G>A p.A3= Synonymous 1/13 - 1
20-58180078-G-C c.9G>C p.A3= Synonymous 1/13 - 1
20-58180078-G-T c.9G>T p.A3= Synonymous 1/13 - 1
20-58180088-G-A c.19G>A p.G7R Missense 1/13 - 1
20-58180098-G-A c.29G>A p.C10Y Missense 1/13 - 1
20-58180098-G-T c.29G>T p.C10F Missense 1/13 - 1
20-58180103-G-C c.34G>C p.V12L Missense 1/13 - 1
20-58180103-G-T c.34G>T p.V12L Missense 1/13 - 2
20-58180109-C-T c.40C>T p.R14W Missense 1/13 - 1
20-58180110-G-A c.41G>A p.R14Q Missense 1/13 - 1
20-58180112-G-A c.43G>A p.G15S Missense 1/13 - 1
20-58180113-G-A c.44G>A p.G15D Missense 1/13 - 1
20-58180115-C-T c.46C>T p.R16C Missense 1/13 - 1
20-58180116-GC-AA c.47_48delinsAA p.R16Q Missense 1/13 - 1
20-58180120-G-C c.51G>C p.S17= Synonymous 1/13 - 1
20-58180127-G-C c.58G>C p.D20H Missense 1/13 - 1
20-58180131-C-T c.62C>T p.P21L Missense 1/13 - 1
20-58180133-AG-CT c.64_65inv p.S22L Missense 1/13 - 1
20-58180136-G-T c.67G>T p.V23F Missense 1/13 - 1
20-58180138-C-A c.69C>A p.V23= Synonymous 1/13 - 1
20-58180138-C-G c.69C>G p.V23= Synonymous 1/13 - 1
20-58180138-C-T c.69C>T p.V23= Synonymous 1/13 - 1
20-58180139-C-T c.70C>T p.L24F Missense 1/13 - 1
20-58180142-A-T c.73A>T p.T25S Missense 1/13 - 1
20-58180143-C-G c.74C>G p.T25S Missense 1/13 - 1
20-58180145-G-A c.76G>A p.D26N Missense 1/13 - 1
20-58180146-A-T c.77A>T p.D26V Missense 1/13 - 3
20-58180147-C-A c.78C>A p.D26E Missense 1/13 - 1
20-58180147-C-G c.78C>G p.D26E Missense 1/13 - 1
20-58180154-GC-CA c.85_86delinsCA p.A29H Missense 1/13 - 2
20-58180154-GCC-ATG c.85_87delinsATG p.A29M Missense 1/13 - 3
20-58180154-GC-CT c.85_86delinsCT p.A29L Missense 1/13 - 3
20-58180154-GC-TG c.85_86delinsTG p.A29C Missense 1/13 - 1
20-58180154-G-T c.85G>T p.A29S Missense 1/13 - 1
20-58180155-C-A c.86C>A p.A29D Missense 1/13 - 3
20-58180156-C-A c.87C>A p.A29= Synonymous 1/13 - 1
20-58180156-C-G c.87C>G p.A29= Synonymous 1/13 - 1
20-58180156-C-T c.87C>T p.A29= Synonymous 1/13 - 1
20-58180161-C-T c.92C>T p.S31F Missense 1/13 - 2
20-58180166-G-A c.97G>A p.A33T Missense 1/13 - 1
20-58180167-C-T c.98C>T p.A33V Missense 1/13 - 1
20-58180177-G-A c.108G>A p.G36= Synonymous 1/13 - 1
20-58180177-G-C c.108G>C p.G36= Synonymous 1/13 - 1
20-58180177-G-T c.108G>T p.G36= Synonymous 1/13 - 1
20-58180180-G-C c.111G>C p.E37D Missense 1/13 - 2
20-58180180-G-T c.111G>T p.E37D Missense 1/13 - 2
20-58180187-G-T c.118G>T p.D40Y Missense 1/13 - 1
20-58180197-T-G c.118+10T>G - IntronicSNV - 1/12 1
20-58180201-C-G c.118+14C>G - IntronicSNV - 1/12 1
20-58182006-C-A c.118+1819C>A - IntronicSNV - 1/12 1
20-58187484-C-T c.118+7297C>T - IntronicSNV - 1/12 1
20-58190721-G-A c.118+10534G>A - IntronicSNV - 1/12 1
20-58191903-AT-A c.118+11725del - IntronicDeletion - 1/12 1
20-58193881-G-A c.118+13694G>A - IntronicSNV - 1/12 1
20-58195059-C-T c.118+14872C>T - IntronicSNV - 1/12 1
20-58197826-G-T c.118+17639G>T - IntronicSNV - 1/12 1
20-58199218-C-T c.118+19031C>T - IntronicSNV - 1/12 1
20-58199807-TA-T c.118+19629del - IntronicDeletion - 1/12 1
20-58203689-G-A c.118+23502G>A - IntronicSNV - 1/12 1
20-58203852-C-T c.118+23665C>T - IntronicSNV - 1/12 1
20-58209453-A-G c.118+29266A>G - IntronicSNV - 1/12 1
20-58210210-T-C c.118+30023T>C - IntronicSNV - 1/12 1
20-58210870-C-G c.118+30683C>G - IntronicSNV - 1/12 1
20-58210870-C-T c.118+30683C>T - IntronicSNV - 1/12 1
20-58212717-C-A c.118+32530C>A - IntronicSNV - 1/12 1
20-58212717-C-G c.118+32530C>G - IntronicSNV - 1/12 1
20-58212752-A-T c.118+32565A>T - IntronicSNV - 1/12 1
20-58215002-C-T c.118+34815C>T - IntronicSNV - 1/12 1
20-58215137-A-C c.118+34950A>C - IntronicSNV - 1/12 1
20-58215137-A-G c.118+34950A>G - IntronicSNV - 1/12 1
20-58215782-T-G c.118+35595T>G - IntronicSNV - 1/12 1
20-58217679-C-T c.118+37492C>T - IntronicSNV - 1/12 1
20-58220590-G-T c.118+40403G>T - IntronicSNV - 1/12 1
20-58224080-G-A c.118+43893G>A - IntronicSNV - 1/12 1
20-58225891-A-G c.118+45704A>G - IntronicSNV - 1/12 1
20-58226160-A-G c.118+45973A>G - IntronicSNV - 1/12 1
20-58226281-TA-T c.118+46100del - IntronicDeletion - 1/12 1
20-58236805-C-T c.118+56618C>T - IntronicSNV - 1/12 1
20-58239998-C-G c.118+59811C>G - IntronicSNV - 1/12 1
20-58242399-C-G c.118+62212C>G - IntronicSNV - 1/12 1
20-58246167-C-CT c.118+65988dup - IntronicInsertion - 1/12 1
20-58249393-T-TG c.119-68766dup - IntronicInsertion - 1/12 1
20-58251012-C-T c.119-67150C>T - IntronicSNV - 1/12 1
20-58251784-A-G c.119-66378A>G - IntronicSNV - 1/12 4
20-58251952-G-T c.119-66210G>T - IntronicSNV - 1/12 1
20-58252407-T-C c.119-65755T>C - IntronicSNV - 1/12 1
20-58253938-A-C c.119-64224A>C - IntronicSNV - 1/12 1
20-58254093-A-G c.119-64069A>G - IntronicSNV - 1/12 1
20-58255397-G-A c.119-62765G>A - IntronicSNV - 1/12 1
20-58262061-T-G c.119-56101T>G - IntronicSNV - 1/12 1
20-58267648-G-T c.119-50514G>T - IntronicSNV - 1/12 5
20-58268519-C-A c.119-49643C>A - IntronicSNV - 1/12 1
20-58268519-C-T c.119-49643C>T - IntronicSNV - 1/12 1
20-58288801-T-C c.119-29361T>C - IntronicSNV - 1/12 1
20-58291961-G-A c.119-26201G>A - IntronicSNV - 1/12 1
20-58296350-T-A c.119-21812T>A - IntronicSNV - 1/12 1
20-58296885-T-C c.119-21277T>C - IntronicSNV - 1/12 1
20-58299983-C-A c.119-18179C>A - IntronicSNV - 1/12 1
20-58300262-G-A c.119-17900G>A - IntronicSNV - 1/12 1
20-58300265-G-C c.119-17897G>C - IntronicSNV - 1/12 1
20-58300266-T-C c.119-17896T>C - IntronicSNV - 1/12 1
20-58300266-T-G c.119-17896T>G - IntronicSNV - 1/12 1
20-58300273-C-G c.119-17889C>G - IntronicSNV - 1/12 1
20-58308289-C-T c.119-9873C>T - IntronicSNV - 1/12 1
20-58318090-A-G c.119-72A>G - IntronicSNV - 1/12 1
20-58318163-T-A c.120T>A p.D40E Missense 2/13 - 1
20-58318163-T-G c.120T>G p.D40E Missense 2/13 - 1
20-58318164-G-A c.121G>A p.E41K Missense 2/13 - 2
20-58318165-A-C c.122A>C p.E41A Missense 2/13 - 1
20-58318165-A-G c.122A>G p.E41G Missense 2/13 - 1
20-58318169-G-A c.126G>A p.M42I Missense 2/13 - 1
20-58318177-C-G c.134C>G p.T45R Missense 2/13 - 1
20-58318177-C-T c.134C>T p.T45M Missense 2/13 - 1
20-58318178-G-A c.135G>A p.T45= Synonymous 2/13 - 2
20-58318178-G-C c.135G>C p.T45= Synonymous 2/13 - 2
20-58318178-G-T c.135G>T p.T45= Synonymous 2/13 - 1
20-58318181-C-A c.138C>A p.P46= Synonymous 2/13 - 1
20-58318181-C-G c.138C>G p.P46= Synonymous 2/13 - 1
20-58318181-C-T c.138C>T p.P46= Synonymous 2/13 - 1
20-58318182-C-T c.139C>T p.P47S Missense 2/13 - 2
20-58318183-C-T c.140C>T p.P47L Missense 2/13 - 2
20-58318184-G-A c.141G>A p.P47= Synonymous 2/13 - 1
20-58318184-G-C c.141G>C p.P47= Synonymous 2/13 - 1
20-58318184-G-T c.141G>T p.P47= Synonymous 2/13 - 3
20-58318186-C-A c.143C>A p.A48E Missense 2/13 - 1
20-58318186-C-T c.143C>T p.A48V Missense 2/13 - 1
20-58318187-G-A c.144G>A p.A48= Synonymous 2/13 - 2
20-58318187-G-C c.144G>C p.A48= Synonymous 2/13 - 1
20-58318187-G-T c.144G>T p.A48= Synonymous 2/13 - 1
20-58318188-C-A c.145C>A p.R49S Missense 2/13 - 4
20-58318188-C-T c.145C>T p.R49C Missense 2/13 - 3
20-58318189-G-A c.146G>A p.R49H Missense 2/13 - 12
20-58318191-C-A c.148C>A p.P50T Missense 2/13 - 1
20-58318191-C-T c.148C>T p.P50S Missense 2/13 - 1
20-58318195-A-C c.152A>C p.E51A Missense 2/13 - 1
20-58318201-T-A c.158T>A p.L53Q Missense 2/13 - 1
20-58318207-C-T c.164C>T p.S55L Missense 2/13 - 3
20-58318209-G-T c.166G>T p.G56W Missense 2/13 - 1
20-58318215-C-T c.172C>T p.R58* Nonsense 2/13 - 4
20-58318216-G-A c.173G>A p.R58Q Missense 2/13 - 7
20-58318216-G-T c.173G>T p.R58L Missense 2/13 - 1
20-58318218-A-G c.175A>G p.T59A Missense 2/13 - 1
20-58318221-C-T c.178C>T p.P60S Missense 2/13 - 1
20-58318231-G-A c.188G>A p.R63K Missense 2/13 - 1
20-58318232-G-C c.189G>C p.R63S Missense 2/13 - 1
20-58318232-G-T c.189G>T p.R63S Missense 2/13 - 2
20-58318233-AG-CA c.190_191delinsCA p.R64Q Missense 2/13 - 1
20-58318237-A-T c.194A>T p.N65I Missense 2/13 - 2
20-58318240-G-T c.197G>T p.S66I Missense 2/13 - 1
20-58318241-C-T c.198C>T p.S66= Synonymous 2/13 - 1
20-58318246-T-A c.203T>A p.L68Q Missense 2/13 - 2
20-58318248-G-T c.205G>T p.A69S Missense 2/13 - 1
20-58318259-C-A c.216C>A p.G72= Synonymous 2/13 - 1
20-58318261-G-A c.218G>A p.R73K Missense 2/13 - 2
20-58318262-G-C c.219G>C p.R73S Missense 2/13 - 1
20-58318262-G-T c.219G>T p.R73S Missense 2/13 - 3
20-58318273-C-G c.230C>G p.P77R Missense 2/13 - 1
20-58318280-A-T c.237A>T p.K79N Missense 2/13 - 2
20-58318283-G-C c.240G>C p.W80C Missense 2/13 - 1
20-58318283-G-T c.240G>T p.W80C Missense 2/13 - 1
20-58318284-A-G c.241A>G p.R81G Missense 2/13 - 1
20-58318285-G-A c.242G>A p.R81K Missense 2/13 - 1
20-58318286-G-A c.243G>A p.R81= Synonymous 2/13 - 1
20-58318287-A-C c.244A>C p.K82Q Missense 2/13 - 1
20-58318291-A-G c.248A>G p.K83R Missense 2/13 - 2
20-58318292-G-A c.249G>A p.K83= Synonymous 2/13 - 1
20-58318296-A-G c.253A>G p.N85D Missense 2/13 - 2
20-58318292-GA-G c.254del p.N85Tfs*4 Frameshift 2/13 - 1
20-58318298-C-T c.255C>T p.N85= Synonymous 2/13 - 2
20-58318299-G-A c.256G>A p.E86K Missense 2/13 - 6
20-58318313-G-C c.270G>C p.Q90H Missense 2/13 - 1
20-58318313-G-T c.270G>T p.Q90H Missense 2/13 - 1
20-58318316-A-C c.273A>C p.T91= Synonymous 2/13 - 1
20-58318316-A-G c.273A>G p.T91= Synonymous 2/13 - 1
20-58318316-A-T c.273A>T p.T91= Synonymous 2/13 - 1
20-58318318-C-T c.275C>T p.T92M Missense 2/13 - 4
20-58318324-G-A c.280+1G>A - IntronicSNV - 2/12 1
20-58318840-C-T c.280+517C>T - IntronicSNV - 2/12 1
20-58322813-C-T c.281C>T p.A94V Missense 3/13 - 4
20-58322814-G-A c.282G>A p.A94= Synonymous 3/13 - 1
20-58322815-C-T c.283C>T p.L95= Synonymous 3/13 - 4
20-58322816-T-G c.284T>G p.L95R Missense 3/13 - 1
20-58322818-G-A c.286G>A p.E96K Missense 3/13 - 1
20-58322818-G-C c.286G>C p.E96Q Missense 3/13 - 4
20-58322830-G-C c.298G>C p.A100P Missense 3/13 - 3
20-58322830-G-T c.298G>T p.A100S Missense 3/13 - 2
20-58322831-C-T c.299C>T p.A100V Missense 3/13 - 1
20-58322833-G-A c.301G>A p.G101S Missense 3/13 - 9
20-58322835-C-A c.303C>A p.G101= Synonymous 3/13 - 2
20-58322836-AG-CA c.304_305delinsCA p.R102Q Missense 3/13 - 1
20-58322843-G-A c.311G>A p.G104D Missense 3/13 - 1
20-58322844-C-A c.312C>A p.G104= Synonymous 3/13 - 1
20-58322844-C-G c.312C>G p.G104= Synonymous 3/13 - 1
20-58322844-C-T c.312C>T p.G104= Synonymous 3/13 - 1
20-58322846-G-A c.314G>A p.R105Q Missense 3/13 - 1
20-58322849-A-G c.317A>G p.E106G Missense 3/13 - 5
20-58322850-G-A c.318G>A p.E106= Synonymous 3/13 - 4
20-58322854-C-T c.322C>T p.L108F Missense 3/13 - 1
20-58322861-A-G c.329A>G p.K110R Missense 3/13 - 2
20-58322862-G-T c.330G>T p.K110N Missense 3/13 - 1
20-58322869-C-T c.337C>T p.L113= Synonymous 3/13 - 2
20-58322871-G-A c.339G>A p.L113= Synonymous 3/13 - 1
20-58322871-G-C c.339G>C p.L113= Synonymous 3/13 - 1
20-58322871-G-T c.339G>T p.L113= Synonymous 3/13 - 1
20-58322874-G-A c.342G>A p.L114= Synonymous 3/13 - 1
20-58322877-G-C c.345G>C p.E115D Missense 3/13 - 1
20-58322878-A-G c.346A>G p.M116V Missense 3/13 - 1
20-58322881-A-T c.349A>T p.M117L Missense 3/13 - 1
20-58322883-G-A c.351G>A p.M117I Missense 3/13 - 2
20-58322888-A-G c.356A>G p.Q119R Missense 3/13 - 1
20-58322890-G-A c.358G>A p.D120N Missense 3/13 - 1
20-58322956-A-C c.358+66A>C - IntronicSNV - 3/12 1
20-58322956-A-G c.358+66A>G - IntronicSNV - 3/12 2
20-58323037-A-G c.358+147A>G - IntronicSNV - 3/12 2
20-58323081-C-T c.358+191C>T - IntronicSNV - 3/12 1
20-58326432-A-G c.358+3542A>G - IntronicSNV - 3/12 2
20-58326432-A-T c.358+3542A>T - IntronicSNV - 3/12 2
20-58330128-G-A c.359-109G>A - IntronicSNV - 3/12 8
20-58330128-G-C c.359-109G>C - IntronicSNV - 3/12 8
20-58330128-G-T c.359-109G>T - IntronicSNV - 3/12 8
20-58330240-C-T c.362C>T p.A121V Missense 4/13 - 1
20-58330242-G-A c.364G>A p.E122K Missense 4/13 - 2
20-58330243-A-G c.365A>G p.E122G Missense 4/13 - 1
20-58330244-A-C c.366A>C p.E122D Missense 4/13 - 1
20-58330256-C-G c.378C>G p.C126W Missense 4/13 - 1
20-58330258-A-G c.380A>G p.N127S Missense 4/13 - 2
20-58330259-C-A c.381C>A p.N127K Missense 4/13 - 2
20-58330261-C-A c.383C>A p.P128H Missense 4/13 - 3
20-58330262-C-T c.384C>T p.P128= Synonymous 4/13 - 1
20-58330263-G-A c.385G>A p.D129N Missense 4/13 - 4
20-58330263-G-C c.385G>C p.D129H Missense 4/13 - 1
20-58330263-G-T c.385G>T p.D129Y Missense 4/13 - 1
20-58330267-G-A c.389G>A p.G130E Missense 4/13 - 1
20-58330272-C-G c.394C>G p.P132A Missense 4/13 - 1
20-58330273-C-T c.395C>T p.P132L Missense 4/13 - 3
20-58330276-G-A c.398G>A p.R133Q Missense 4/13 - 5
20-58330282-T-C c.404T>C p.V135A Missense 4/13 - 1
20-58330290-G-A c.412G>A p.E138K Missense 4/13 - 2
20-58330295-A-G c.417A>G p.P139= Synonymous 4/13 - 1
20-58330298-C-T c.420C>T p.P140= Synonymous 4/13 - 1
20-58330300-CT-TG c.422_423delinsTG p.T141M Missense 4/13 - 1
20-58330302-C-T c.424C>T p.P142S Missense 4/13 - 1
20-58330303-C-T c.425C>T p.P142L Missense 4/13 - 3
20-58330305-A-G c.427A>G p.K143E Missense 4/13 - 1
20-58330307-G-A c.429G>A p.K143= Synonymous 4/13 - 2
20-58330308-T-TA c.430_431insA p.S144Yfs*47 Frameshift 4/13 - 1
20-58330309-CG-GT c.431_432delinsGT p.S144C Missense 4/13 - 1
20-58330309-C-T c.431C>T p.S144L Missense 4/13 - 3
20-58330312-A-C c.434A>C p.E145A Missense 4/13 - 1
20-58330315-C-T c.437C>T p.T146M Missense 4/13 - 5
20-58330317-C-G c.439C>G p.L147V Missense 4/13 - 1
20-58330317-C-T c.439C>T p.L147= Synonymous 4/13 - 1
20-58330319-G-A c.441G>A p.L147= Synonymous 4/13 - 2
20-58330319-G-C c.441G>C p.L147= Synonymous 4/13 - 1
20-58330319-G-T c.441G>T p.L147= Synonymous 4/13 - 1
20-58330320-A-G c.442A>G p.T148A Missense 4/13 - 1
20-58330324-C-T c.446C>T p.S149L Missense 4/13 - 2
20-58330326-G-A c.448G>A p.E150K Missense 4/13 - 1
20-58330328-A-C c.450A>C p.E150D Missense 4/13 - 1
20-58330328-A-T c.450A>T p.E150D Missense 4/13 - 1
20-58330329-G-C c.451G>C p.D151H Missense 4/13 - 1
20-58330331-T-C c.453T>C p.D151= Synonymous 4/13 - 1
20-58330332-GC-CT c.454_455delinsCT p.A152L Missense 4/13 - 1
20-58330333-C-T c.455C>T p.A152V Missense 4/13 - 1
20-58330334-C-T c.456C>T p.A152= Synonymous 4/13 - 1
20-58330337-G-C c.459G>C p.Q153H Missense 4/13 - 1
20-58330337-G-T c.459G>T p.Q153H Missense 4/13 - 1
20-58330339-C-A c.461C>A p.P154H Missense 4/13 - 1
20-58330339-C-G c.461C>G p.P154R Missense 4/13 - 1
20-58330339-C-T c.461C>T p.P154L Missense 4/13 - 5
20-58330340-C-A c.462C>A p.P154= Synonymous 4/13 - 2
20-58330340-C-G c.462C>G p.P154= Synonymous 4/13 - 2
20-58330340-C-T c.462C>T p.P154= Synonymous 4/13 - 4
20-58330341-G-A c.463G>A p.G155R Missense 4/13 - 2
20-58330341-G-T c.463G>T p.G155* Nonsense 4/13 - 1
20-58330342-G-A c.464G>A p.G155E Missense 4/13 - 4
20-58330346-C-T c.468C>T p.S156= Synonymous 4/13 - 1
20-58330347-C-T c.469C>T p.P157S Missense 4/13 - 1
20-58330349-C-A c.471C>A p.P157= Synonymous 4/13 - 1
20-58330349-C-G c.471C>G p.P157= Synonymous 4/13 - 1
20-58330349-C-T c.471C>T p.P157= Synonymous 4/13 - 1
20-58330353-G-A c.475G>A p.A159T Missense 4/13 - 1
20-58330353-G-C c.475G>C p.A159P Missense 4/13 - 1
20-58330360-G-T c.482G>T p.G161V Missense 4/13 - 1
20-58330363-C-T c.485C>T p.T162M Missense 4/13 - 8
20-58330366-A-G c.488A>G p.D163G Missense 4/13 - 1
20-58330371-G-A c.493G>A p.V165I Missense 4/13 - 1
20-58330371-G-C c.493G>C p.V165L Missense 4/13 - 1
20-58330373-C-A c.495C>A p.V165= Synonymous 4/13 - 2
20-58330374-T-A c.496T>A p.S166T Missense 4/13 - 1
20-58330374-T-C c.496T>C p.S166P Missense 4/13 - 1
20-58330378-T-G c.500T>G p.L167R Missense 4/13 - 1
20-58330380-G-A c.502G>A p.D168N Missense 4/13 - 6
20-58330380-G-C c.502G>C p.D168H Missense 4/13 - 1
20-58330382-C-A c.504C>A p.D168E Missense 4/13 - 4
20-58330382-C-G c.504C>G p.D168E Missense 4/13 - 3
20-58330392-TC-CT c.514_515delinsCT p.S172L Missense 4/13 - 1
20-58330393-C-T c.515C>T p.S172F Missense 4/13 - 3
20-58330398-G-A c.520G>A p.A174T Missense 4/13 - 1
20-58330398-G-C c.520G>C p.A174P Missense 4/13 - 1
20-58330404-C-A c.526C>A p.H176N Missense 4/13 - 1
20-58330406-C-A c.528C>A p.H176Q Missense 4/13 - 1
20-58330406-C-G c.528C>G p.H176Q Missense 4/13 - 1
20-58330413-G-A c.535G>A p.D179N Missense 4/13 - 2
20-58330413-G-T c.535G>T p.D179Y Missense 4/13 - 1
20-58330683-AC-A c.541+271del - IntronicDeletion - 4/12 1
20-58330913-T-A c.541+494T>A - IntronicSNV - 4/12 1
20-58330913-T-G c.541+494T>G - IntronicSNV - 4/12 1
20-58330965-GTGGGCTTGGTGCCTTGCTCCAAGCC-G c.541+548_541+572del - IntronicDeletion - 4/12 1
20-58332598-G-C c.541+2179G>C - IntronicSNV - 4/12 1
20-58332598-G-T c.541+2179G>T - IntronicSNV - 4/12 1
20-58332625-A-G c.541+2206A>G - IntronicSNV - 4/12 1
20-58333025-A-C c.541+2606A>C - IntronicSNV - 4/12 1
20-58333024-CA-C c.541+2613del - IntronicDeletion - 4/12 1
20-58342130-T-A c.542-111T>A - IntronicSNV - 4/12 7
20-58342246-A-G c.547A>G p.M183V Missense 5/13 - 1
20-58342246-A-T c.547A>T p.M183L Missense 5/13 - 1
20-58342249-C-A c.550C>A p.P184T Missense 5/13 - 1
20-58342248-GC-G c.551del p.P184Lfs*25 Frameshift 5/13 - 4
20-58342252-T-G c.553T>G p.S185A Missense 5/13 - 1
20-58342253-C-G c.554C>G p.S185C Missense 5/13 - 2
20-58342255-G-T c.556G>T p.A186S Missense 5/13 - 1
20-58342265-G-T c.566G>T p.G189V Missense 5/13 - 1
20-58342267-G-A c.568G>A p.E190K Missense 5/13 - 1
20-58342269-A-G c.570A>G p.E190= Synonymous 5/13 - 1
20-58342270-G-A c.571G>A p.E191K Missense 5/13 - 4
20-58342272-A-C c.573A>C p.E191D Missense 5/13 - 1
20-58342273-G-A c.574G>A p.A192T Missense 5/13 - 1
20-58342273-G-T c.574G>T p.A192S Missense 5/13 - 1
20-58342274-C-A c.575C>A p.A192E Missense 5/13 - 1
20-58342278-C-T c.579C>T p.D193= Synonymous 5/13 - 4
20-58342279-G-T c.580G>T p.A194S Missense 5/13 - 2
20-58342283-G-T c.584G>T p.G195V Missense 5/13 - 1
20-58342290-C-A c.591C>A p.L197= Synonymous 5/13 - 1
20-58342291-C-T c.592C>T p.L198= Synonymous 5/13 - 2
20-58342292-T-G c.593T>G p.L198R Missense 5/13 - 2
20-58342293-G-A c.594G>A p.L198= Synonymous 5/13 - 1
20-58342293-G-C c.594G>C p.L198= Synonymous 5/13 - 1
20-58342293-G-T c.594G>T p.L198= Synonymous 5/13 - 1
20-58342294-C-T c.595C>T p.P199S Missense 5/13 - 2
20-58342295-C-T c.596C>T p.P199L Missense 5/13 - 1
20-58342297-A-G c.598A>G p.T200A Missense 5/13 - 2
20-58342301-C-T c.602C>T p.T201I Missense 5/13 - 1
20-58342306-G-A c.607G>A p.E203K Missense 5/13 - 2
20-58342309-C-T c.610C>T p.L204F Missense 5/13 - 1
20-58342311-C-A c.612C>A p.L204= Synonymous 5/13 - 3
20-58342311-C-G c.612C>G p.L204= Synonymous 5/13 - 2
20-58342311-C-T c.612C>T p.L204= Synonymous 5/13 - 2
20-58342314-C-A c.615C>A p.S205= Synonymous 5/13 - 2
20-58342314-C-G c.615C>G p.S205= Synonymous 5/13 - 2
20-58342314-C-T c.615C>T p.S205= Synonymous 5/13 - 2
20-58342315-C-T c.616C>T p.Q206* Nonsense 5/13 - 1
20-58342317-A-C c.618A>C p.Q206H Missense 5/13 - 1
20-58342319-C-T c.620C>T p.A207V Missense 5/13 - 2
20-58342325-C-A c.626C>A p.A209D Missense 5/13 - 1
20-58342325-C-T c.626C>T p.A209V Missense 5/13 - 1
20-58342330-G-A c.631G>A p.A211T Missense 5/13 - 1
20-58342331-C-T c.632C>T p.A211V Missense 5/13 - 2
20-58342336-TC-AT c.637_638delinsAT p.S213I Missense 5/13 - 1
20-58342337-C-G c.638C>G p.S213C Missense 5/13 - 1
20-58342337-C-T c.638C>T p.S213F Missense 5/13 - 5
20-58342338-C-A c.639C>A p.S213= Synonymous 5/13 - 2
20-58342338-C-G c.639C>G p.S213= Synonymous 5/13 - 1
20-58342338-C-T c.639C>T p.S213= Synonymous 5/13 - 3
20-58342339-C-A c.640C>A p.L214M Missense 5/13 - 2
20-58342339-CTG-ATC c.640_642delinsATC p.L214I Missense 5/13 - 1
20-58342346-G-T c.647G>T p.S216I Missense 5/13 - 1
20-58342349-C-T c.650C>T p.P217L Missense 5/13 - 13
20-58342350-T-A c.651T>A p.P217= Synonymous 5/13 - 2
20-58342350-T-C c.651T>C p.P217= Synonymous 5/13 - 2
20-58342350-T-G c.651T>G p.P217= Synonymous 5/13 - 2
20-58342354-AG-CA c.655_656delinsCA p.R219Q Missense 5/13 - 1
20-58342354-AG-CT c.655_656inv p.R219L Missense 5/13 - 1
20-58342355-G-A c.656G>A p.R219K Missense 5/13 - 1
20-58342355-G-C c.656G>C p.R219T Missense 5/13 - 1
20-58342355-G-T c.656G>T p.R219I Missense 5/13 - 2
20-58342358-C-T c.659C>T p.P220L Missense 5/13 - 1
20-58342363-G-A c.664G>A p.E222K Missense 5/13 - 3
20-58342365-G-A c.666G>A p.E222= Synonymous 5/13 - 2
20-58342366-A-G c.667A>G p.R223G Missense 5/13 - 1
20-58342367-G-A c.668G>A p.R223K Missense 5/13 - 1
20-58342370-C-T c.671C>T p.S224F Missense 5/13 - 2
20-58342372-G-A c.673G>A p.V225M Missense 5/13 - 2
20-58342374-G-T c.675G>T p.V225= Synonymous 5/13 - 2
20-58342376-G-A c.677G>A p.G226D Missense 5/13 - 1
20-58342379-A-C c.680A>C p.Q227P Missense 5/13 - 1
20-58342379-A-T c.680A>T p.Q227L Missense 5/13 - 1
20-58342380-G-C c.681G>C p.Q227H Missense 5/13 - 3
20-58342380-G-T c.681G>T p.Q227H Missense 5/13 - 2
20-58342382-T-C c.683T>C p.L228P Missense 5/13 - 1
20-58342383-C-A c.684C>A p.L228= Synonymous 5/13 - 2
20-58342383-CC-AA c.684_685delinsAA p.P229T Missense 5/13 - 1
20-58342384-C-A c.685C>A p.P229T Missense 5/13 - 2
20-58342384-C-G c.685C>G p.P229A Missense 5/13 - 2
20-58342385-C-T c.686C>T p.P229L Missense 5/13 - 1
20-58342386-C-T c.687C>T p.P229= Synonymous 5/13 - 1
20-58342389-C-T c.690C>T p.S230= Synonymous 5/13 - 1
20-58342391-C-A c.692C>A p.P231H Missense 5/13 - 2
20-58342391-C-T c.692C>T p.P231L Missense 5/13 - 1
20-58342393-C-G c.694C>G p.P232A Missense 5/13 - 1
20-58342388-GC-G c.695del p.P232Hfs*30 Frameshift 5/13 - 1
20-58342394-C-T c.695C>T p.P232L Missense 5/13 - 2
20-58342403-C-T c.704C>T p.P235L Missense 5/13 - 1
20-58342404-C-A c.705C>A p.P235= Synonymous 5/13 - 1
20-58342404-C-G c.705C>G p.P235= Synonymous 5/13 - 1
20-58342404-C-T c.705C>T p.P235= Synonymous 5/13 - 1
20-58342405-A-T c.706A>T p.T236S Missense 5/13 - 1
20-58342406-C-G c.707C>G p.T236S Missense 5/13 - 1
20-58342409-C-T c.710C>T p.P237L Missense 5/13 - 6
20-58342410-G-A c.711G>A p.P237= Synonymous 5/13 - 1
20-58342412-C-T c.713C>T p.P238L Missense 5/13 - 1
20-58342413-A-C c.714A>C p.P238= Synonymous 5/13 - 2
20-58342413-A-G c.714A>G p.P238= Synonymous 5/13 - 2
20-58342413-A-T c.714A>T p.P238= Synonymous 5/13 - 2
20-58342414-C-T c.715C>T p.P239S Missense 5/13 - 2
20-58342415-C-T c.716C>T p.P239L Missense 5/13 - 1
20-58342420-G-A c.721G>A p.A241T Missense 5/13 - 3
20-58342421-C-A c.722C>A p.A241E Missense 5/13 - 1
20-58342424-G-A c.725G>A p.S242N Missense 5/13 - 1
20-58342432-A-G c.733A>G p.T245A Missense 5/13 - 1
20-58342436-C-A c.737C>A p.T246K Missense 5/13 - 1
20-58342439-A-C c.740A>C p.K247T Missense 5/13 - 1
20-58342439-A-G c.740A>G p.K247R Missense 5/13 - 1
20-58342444-G-T c.745G>T p.V249F Missense 5/13 - 1
20-58342448-C-A c.749C>A p.T250K Missense 5/13 - 1
20-58342467-C-T c.751+17C>T - IntronicSNV - 5/12 1
20-58347591-G-A c.752-743G>A - IntronicSNV - 5/12 1
20-58348081-A-G c.752-253A>G - IntronicSNV - 5/12 1
20-58348081-A-T c.752-253A>T - IntronicSNV - 5/12 1
20-58348158-C-T c.752-176C>T - IntronicSNV - 5/12 1
20-58348340-C-T c.758C>T p.A253V Missense 6/13 - 1
20-58348347-C-A c.765C>A p.L255= Synonymous 6/13 - 2
20-58348347-C-G c.765C>G p.L255= Synonymous 6/13 - 3
20-58348347-C-T c.765C>T p.L255= Synonymous 6/13 - 3
20-58348348-T-C c.766T>C p.F256L Missense 6/13 - 2
20-58348350-C-A c.768C>A p.F256L Missense 6/13 - 1
20-58348350-C-G c.768C>G p.F256L Missense 6/13 - 1
20-58348351-C-T c.769C>T p.Q257* Nonsense 6/13 - 1
20-58348352-A-G c.770A>G p.Q257R Missense 6/13 - 1
20-58348355-C-T c.773C>T p.A258V Missense 6/13 - 2
20-58348358-C-T c.776C>T p.S259F Missense 6/13 - 2
20-58348360-A-T c.778A>T p.S260C Missense 6/13 - 1
20-58348362-C-T c.780C>T p.S260= Synonymous 6/13 - 1
20-58348364-T-C c.782T>C p.M261T Missense 6/13 - 1
20-58348365-G-A c.783G>A p.M261I Missense 6/13 - 3
20-58348365-G-C c.783G>C p.M261I Missense 6/13 - 1
20-58348365-G-T c.783G>T p.M261I Missense 6/13 - 1
20-58348372-G-A c.790G>A p.A264T Missense 6/13 - 1
20-58348372-G-T c.790G>T p.A264S Missense 6/13 - 1
20-58348374-C-A c.792C>A p.A264= Synonymous 6/13 - 1
20-58348374-C-G c.792C>G p.A264= Synonymous 6/13 - 1
20-58348374-C-T c.792C>T p.A264= Synonymous 6/13 - 3
20-58348375-G-A c.793G>A p.D265N Missense 6/13 - 1
20-58348382-C-A c.800C>A p.S267Y Missense 6/13 - 1
20-58348383-C-A c.801C>A p.S267= Synonymous 6/13 - 1
20-58348383-C-G c.801C>G p.S267= Synonymous 6/13 - 2
20-58348383-C-T c.801C>T p.S267= Synonymous 6/13 - 1
20-58348385-CT-C c.803del p.L268Pfs*99 Frameshift 6/13 - 4
20-58348385-T-A c.803T>A p.L268H Missense 6/13 - 1
20-58348385-TC-AA c.803_804delinsAA p.L268Q Missense 6/13 - 1
20-58348386-C-T c.804C>T p.L268= Synonymous 6/13 - 2
20-58348387-C-G c.805C>G p.R269G Missense 6/13 - 1
20-58348387-C-T c.805C>T p.R269W Missense 6/13 - 6
20-58348388-G-C c.806G>C p.R269P Missense 6/13 - 1
20-58348388-G-T c.806G>T p.R269L Missense 6/13 - 2
20-58348390-G-A c.808G>A p.G270S Missense 6/13 - 1
20-58348390-G-T c.808G>T p.G270C Missense 6/13 - 2
20-58348391-G-A c.809G>A p.G270D Missense 6/13 - 3
20-58348391-G-C c.809G>C p.G270A Missense 6/13 - 1
20-58348392-C-T c.810C>T p.G270= Synonymous 6/13 - 1
20-58348393-C-A c.811C>A p.Q271K Missense 6/13 - 1
20-58348397-T-A c.815T>A p.L272H Missense 6/13 - 1
20-58348398-C-G c.816C>G p.L272= Synonymous 6/13 - 1
20-58348406-C-T c.824C>T p.P275L Missense 6/13 - 3
20-58348409-C-A c.827C>A p.T276K Missense 6/13 - 1
20-58348412-GG-AC c.830_831delinsAC p.G277D Missense 6/13 - 1
20-58348413-G-A c.831G>A p.G277= Synonymous 6/13 - 1
20-58348413-G-C c.831G>C p.G277= Synonymous 6/13 - 1
20-58348413-G-T c.831G>T p.G277= Synonymous 6/13 - 1
20-58348415-C-A c.833C>A p.S278Y Missense 6/13 - 3
20-58348418-C-T c.836C>T p.P279L Missense 6/13 - 1
20-58348419-G-A c.837G>A p.P279= Synonymous 6/13 - 4
20-58348419-G-C c.837G>C p.P279= Synonymous 6/13 - 2
20-58348419-G-T c.837G>T p.P279= Synonymous 6/13 - 2
20-58348421-A-T c.839A>T p.H280L Missense 6/13 - 1
20-58348423-C-G c.841C>G p.L281V Missense 6/13 - 1
20-58348429-A-G c.847A>G p.T283A Missense 6/13 - 1
20-58348431-G-A c.849G>A p.T283= Synonymous 6/13 - 2
20-58348432-G-A c.850G>A p.V284I Missense 6/13 - 2
20-58348432-G-T c.850G>T p.V284F Missense 6/13 - 2
20-58348434-C-T c.852C>T p.V284= Synonymous 6/13 - 1
20-58348435-C-T c.853C>T p.H285Y Missense 6/13 - 2
20-58348437-C-T c.855C>T p.H285= Synonymous 6/13 - 1
20-58348438-C-T c.856C>T p.R286W Missense 6/13 - 1
20-58348439-G-C c.857G>C p.R286P Missense 6/13 - 1
20-58348440-G-T c.858G>T p.R286= Synonymous 6/13 - 1
20-58348442-C-A c.860C>A p.P287H Missense 6/13 - 2
20-58348444-C-A c.862C>A p.L288I Missense 6/13 - 3
20-58348447-C-A c.865C>A p.P289T Missense 6/13 - 1
20-58348447-C-T c.865C>T p.P289S Missense 6/13 - 1
20-58348450-C-A c.868C>A p.P290T Missense 6/13 - 1
20-58348450-C-T c.868C>T p.P290S Missense 6/13 - 1
20-58348458-C-A c.876C>A p.R292= Synonymous 6/13 - 2
20-58348458-C-G c.876C>G p.R292= Synonymous 6/13 - 2
20-58348458-C-T c.876C>T p.R292= Synonymous 6/13 - 2
20-58348460-T-G c.878T>G p.V293G Missense 6/13 - 1
20-58348465-G-A c.883G>A p.E295K Missense 6/13 - 1
20-58348467-G-A c.885G>A p.E295= Synonymous 6/13 - 1
20-58348473-G-C c.891G>C p.L297= Synonymous 6/13 - 1
20-58348474-C-A c.892C>A p.H298N Missense 6/13 - 1
20-58348476-C-A c.894C>A p.H298Q Missense 6/13 - 1
20-58348476-C-G c.894C>G p.H298Q Missense 6/13 - 2
20-58348477-A-G c.895A>G p.R299G Missense 6/13 - 2
20-58348478-G-T c.896G>T p.R299M Missense 6/13 - 2
20-58348477-A-C c.895A>C p.R299= Synonymous 6/13 - 1
20-58348479-G-A c.897G>A p.R299= Synonymous 6/13 - 2
20-58348481-C-A c.899C>A p.A300E Missense 6/13 - 1
20-58348481-C-T c.899C>T p.A300V Missense 6/13 - 2
20-58348487-C-A c.905C>A p.A302D Missense 6/13 - 2
20-58348488-C-T c.906C>T p.A302= Synonymous 6/13 - 1
20-58348496-A-G c.914A>G p.H305R Missense 6/13 - 2
20-58348498-C-T c.916C>T p.R306C Missense 6/13 - 1
20-58348499-G-A c.917G>A p.R306H Missense 6/13 - 3
20-58348499-G-T c.917G>T p.R306L Missense 6/13 - 1
20-58348501-C-G c.919C>G p.Q307E Missense 6/13 - 1
20-58348569-G-T c.926+61G>T - IntronicSNV - 6/12 1
20-58348589-G-A c.926+81G>A - IntronicSNV - 6/12 3
20-58348733-A-G c.926+225A>G - IntronicSNV - 6/12 1
20-58349302-C-T c.931C>T p.Q311* Nonsense 7/13 - 2
20-58349307-A-AT c.936_937insT p.R313* Nonsense 7/13 - 1
20-58349311-G-A c.940G>A p.E314K Missense 7/13 - 3
20-58349314-A-T c.943A>T p.S315C Missense 7/13 - 1
20-58349318-A-G c.947A>G p.K316R Missense 7/13 - 1
20-58349320-G-C c.949G>C p.G317R Missense 7/13 - 1
20-58349321-G-A c.950G>A p.G317E Missense 7/13 - 1
20-58349322-G-A c.951G>A p.G317= Synonymous 7/13 - 2
20-58349322-G-C c.951G>C p.G317= Synonymous 7/13 - 1
20-58349322-G-T c.951G>T p.G317= Synonymous 7/13 - 1
20-58349324-C-T c.953C>T p.S318F Missense 7/13 - 2
20-58349335-C-T c.964C>T p.R322W Missense 7/13 - 1
20-58349336-G-A c.965G>A p.R322Q Missense 7/13 - 2
20-58349336-G-T c.965G>T p.R322L Missense 7/13 - 1
20-58349338-C-A c.967C>A p.L323M Missense 7/13 - 1
20-58349341-G-T c.970G>T p.D324Y Missense 7/13 - 1
20-58349345-T-C c.974T>C p.V325A Missense 7/13 - 1
20-58349347-C-T c.976C>T p.R326C Missense 7/13 - 3
20-58349354-CG-TT c.983_984delinsTT p.S328F Missense 7/13 - 1
20-58349355-G-A c.984G>A p.S328= Synonymous 7/13 - 1
20-58349356-A-C c.985A>C p.R329= Synonymous 7/13 - 1
20-58349358-A-G c.987A>G p.R329= Synonymous 7/13 - 1
20-58349360-C-T c.989C>T p.T330M Missense 7/13 - 3
20-58349361-G-A c.990G>A p.T330= Synonymous 7/13 - 1
20-58349363-C-T c.992C>T p.S331F Missense 7/13 - 1
20-58349364-C-T c.993C>T p.S331= Synonymous 7/13 - 2
20-58349367-C-T c.996C>T p.S332= Synonymous 7/13 - 3
20-58349368-G-A c.997G>A p.V333M Missense 7/13 - 4
20-58349368-G-C c.997G>C p.V333L Missense 7/13 - 1
20-58349368-G-T c.997G>T p.V333L Missense 7/13 - 2
20-58349374-C-T c.1003C>T p.R335W Missense 7/13 - 3
20-58349375-G-A c.1004G>A p.R335Q Missense 7/13 - 6
20-58349376-G-C c.1005G>C p.R335= Synonymous 7/13 - 1
20-58349378-G-C c.1007G>C p.G336A Missense 7/13 - 1
20-58349381-A-C c.1010A>C p.K337T Missense 7/13 - 1
20-58349384-A-T c.1013A>T p.E338V Missense 7/13 - 2
20-58349385-G-C c.1014G>C p.E338D Missense 7/13 - 2
20-58349386-A-G c.1015A>G p.R339G Missense 7/13 - 1
20-58349386-AGG-TGT c.1015_1017delinsTGT p.R339C Missense 7/13 - 1
20-58349387-G-C c.1016G>C p.R339T Missense 7/13 - 1
20-58349389-G-A c.1018G>A p.E340K Missense 7/13 - 2
20-58349391-G-A c.1020G>A p.E340= Synonymous 7/13 - 1
20-58349391-G-C c.1020G>C p.E340D Missense 7/13 - 1
20-58349391-G-T c.1020G>T p.E340D Missense 7/13 - 1
20-58349392-G-A c.1021G>A p.E341K Missense 7/13 - 2
20-58349395-G-C c.1024G>C p.A342P Missense 7/13 - 3
20-58349403-C-A c.1032C>A p.S344R Missense 7/13 - 2
20-58349409-C-T c.1038C>T p.D346= Synonymous 7/13 - 3
20-58349411-G-A c.1040G>A p.G347E Missense 7/13 - 1
20-58349413-G-T c.1042G>T p.A348S Missense 7/13 - 2
20-58349416-T-C c.1045T>C p.L349= Synonymous 7/13 - 1
20-58349417-T-C c.1046T>C p.L349S Missense 7/13 - 2
20-58349427-G-A c.1056G>A p.K352= Synonymous 7/13 - 1
20-58349427-G-T c.1056G>T p.K352N Missense 7/13 - 1
20-58349428-C-T c.1057C>T p.R353* Nonsense 7/13 - 1
20-58349429-G-A c.1058G>A p.R353Q Missense 7/13 - 1
20-58349430-A-C c.1059A>C p.R353= Synonymous 7/13 - 1
20-58349431-A-G c.1060A>G p.T354A Missense 7/13 - 2
20-58349432-AC-A c.1061del p.T354Mfs*13 Frameshift 7/13 - 1
20-58349432-C-T c.1061C>T p.T354I Missense 7/13 - 2
20-58349434-G-C c.1063G>C p.A355P Missense 7/13 - 1
20-58349435-C-T c.1064C>T p.A355V Missense 7/13 - 1
20-58349436-C-A c.1065C>A p.A355= Synonymous 7/13 - 2
20-58349436-C-G c.1065C>G p.A355= Synonymous 7/13 - 1
20-58349436-C-T c.1065C>T p.A355= Synonymous 7/13 - 2
20-58349437-G-A c.1066G>A p.A356T Missense 7/13 - 1
20-58349438-C-G c.1067C>G p.A356G Missense 7/13 - 1
20-58349440-A-G c.1069A>G p.K357E Missense 7/13 - 1
20-58349442-G-C c.1071G>C p.K357N Missense 7/13 - 2
20-58349442-G-T c.1071G>T p.K357N Missense 7/13 - 3
20-58349443-G-A c.1072G>A p.E358K Missense 7/13 - 6
20-58349443-G-C c.1072G>C p.E358Q Missense 7/13 - 6
20-58349445-A-C c.1074A>C p.E358D Missense 7/13 - 1
20-58349445-A-T c.1074A>T p.E358D Missense 7/13 - 1
20-58349447-C-T c.1076C>T p.S359F Missense 7/13 - 2
20-58349449-G-T c.1078G>T p.E360* Nonsense 7/13 - 3
20-58349450-A-G c.1079A>G p.E360G Missense 7/13 - 2
20-58349451-G-A c.1080G>A p.E360= Synonymous 7/13 - 1
20-58349452-G-A c.1081G>A p.E361K Missense 7/13 - 1
20-58349461-G-A c.1090G>A p.E364K Missense 7/13 - 1
20-58349461-G-T c.1090G>T p.E364* Nonsense 7/13 - 2
20-58349463-G-A c.1092G>A p.E364= Synonymous 7/13 - 1
20-58349476-A-G c.1105A>G p.N369D Missense 7/13 - 1
20-58349477-A-G c.1106A>G p.N369S Missense 7/13 - 1
20-58349480-C-A c.1109C>A p.S370Y Missense 7/13 - 1
20-58349480-C-T c.1109C>T p.S370F Missense 7/13 - 5
20-58349482-G-T c.1111G>T p.E371* Nonsense 7/13 - 1
20-58349485-C-G c.1114C>G p.L372V Missense 7/13 - 1
20-58349490-A-C c.1119A>C p.K373N Missense 7/13 - 2
20-58349490-A-T c.1119A>T p.K373N Missense 7/13 - 2
20-58349491-G-T c.1120G>T p.D374Y Missense 7/13 - 1
20-58349493-C-T c.1122C>T p.D374= Synonymous 7/13 - 2
20-58349494-G-A c.1123G>A p.D375N Missense 7/13 - 3
20-58349494-G-C c.1123G>C p.D375H Missense 7/13 - 2
20-58349497-T-A c.1126T>A p.L376M Missense 7/13 - 1
20-58349498-T-G c.1127T>G p.L376W Missense 7/13 - 1
20-58349500-C-T c.1129C>T p.L377F Missense 7/13 - 1
20-58349505-G-A c.1134G>A p.L378= Synonymous 7/13 - 1
20-58349509-C-A c.1138C>A p.Q380K Missense 7/13 - 4
20-58349510-A-T c.1139A>T p.Q380L Missense 7/13 - 4
20-58349511-G-A c.1140G>A p.Q380= Synonymous 7/13 - 2
20-58349512-G-A c.1141G>A p.D381N Missense 7/13 - 2
20-58349512-G-C c.1141G>C p.D381H Missense 7/13 - 1
20-58349514-C-T c.1143C>T p.D381= Synonymous 7/13 - 3
20-58349515-G-A c.1144G>A p.E382K Missense 7/13 - 5
20-58349521-G-A c.1150G>A p.A384T Missense 7/13 - 1
20-58349522-C-A c.1151C>A p.A384E Missense 7/13 - 2
20-58349522-C-T c.1151C>T p.A384V Missense 7/13 - 1
20-58349523-G-A c.1152G>A p.A384= Synonymous 7/13 - 1
20-58349529-C-T c.1158C>T p.N386= Synonymous 7/13 - 4
20-58349535-C-T c.1164C>T p.S388= Synonymous 7/13 - 1
20-58349537-T-C c.1166T>C p.I389T Missense 7/13 - 1
20-58349541-T-A c.1170T>A p.I390= Synonymous 7/13 - 2
20-58349546-G-T c.1174+1G>T - IntronicSNV - 7/12 1
20-58349807-G-A c.1174+262G>A - IntronicSNV - 7/12 1
20-58350000-G-A c.1174+455G>A - IntronicSNV - 7/12 1
20-58352921-A-G c.1174+3376A>G - IntronicSNV - 7/12 1
20-58353445-T-C c.1174+3900T>C - IntronicSNV - 7/12 1
20-58353473-C-T c.1174+3928C>T - IntronicSNV - 7/12 1
20-58355791-T-C c.1174+6246T>C - IntronicSNV - 7/12 1
20-58355991-G-A c.1174+6446G>A - IntronicSNV - 7/12 2
20-58363456-G-A c.1174+13911G>A - IntronicSNV - 7/12 1
20-58363456-G-C c.1174+13911G>C - IntronicSNV - 7/12 1
20-58378928-C-T c.1175-2168C>T - IntronicSNV - 7/12 1
20-58380519-A-C c.1175-577A>C - IntronicSNV - 7/12 1
20-58380519-A-T c.1175-577A>T - IntronicSNV - 7/12 1
20-58381013-C-T c.1175-83C>T - IntronicSNV - 7/12 1
20-58381096-G-T c.1175G>T p.G392V Missense 8/13 - 1
20-58381107-C-T c.1186C>T p.R396W Missense 8/13 - 5
20-58381108-G-A c.1187G>A p.R396Q Missense 8/13 - 4
20-58381109-G-A c.1188G>A p.R396= Synonymous 8/13 - 1
20-58381109-G-C c.1188G>C p.R396= Synonymous 8/13 - 2
20-58381112-A-C c.1191A>C p.K397N Missense 8/13 - 1
20-58381112-A-T c.1191A>T p.K397N Missense 8/13 - 2
20-58381115-C-A c.1194C>A p.C398* Nonsense 8/13 - 1
20-58381118-G-A c.1197G>A p.K399= Synonymous 8/13 - 1
20-58381120-A-G c.1199A>G p.K400R Missense 8/13 - 1
20-58381133-C-A c.1212C>A p.A404= Synonymous 8/13 - 3
20-58381133-C-G c.1212C>G p.A404= Synonymous 8/13 - 3
20-58381133-C-T c.1212C>T p.A404= Synonymous 8/13 - 4
20-58381134-G-A c.1213G>A p.V405M Missense 8/13 - 3
20-58381136-G-A c.1215G>A p.V405= Synonymous 8/13 - 1
20-58381136-G-C c.1215G>C p.V405= Synonymous 8/13 - 1
20-58381136-G-T c.1215G>T p.V405= Synonymous 8/13 - 1
20-58381144-G-A c.1223G>A p.R408K Missense 8/13 - 5
20-58381144-GG-AA c.1223_1224delinsAA p.R408K Missense 8/13 - 1
20-58381143-A-C c.1222A>C p.R408= Synonymous 8/13 - 1
20-58381145-G-A c.1224G>A p.R408= Synonymous 8/13 - 5
20-58381145-G-C c.1224G>C p.R408S Missense 8/13 - 1
20-58381145-G-T c.1224G>T p.R408S Missense 8/13 - 1
20-58381150-G-A c.1229G>A p.R410Q Missense 8/13 - 1
20-58381159-A-G c.1238A>G p.K413R Missense 8/13 - 1
20-58381162-A-G c.1241A>G p.Q414R Missense 8/13 - 1
20-58381164-G-A c.1243G>A p.E415K Missense 8/13 - 7
20-58381166-A-G c.1245A>G p.E415= Synonymous 8/13 - 1
20-58381168-T-A c.1247T>A p.L416Q Missense 8/13 - 1
20-58381172-A-G c.1251A>G p.E417= Synonymous 8/13 - 1
20-58381175-C-T c.1254C>T p.D418= Synonymous 8/13 - 1
20-58381176-C-T c.1255C>T p.R419W Missense 8/13 - 1
20-58381177-G-A c.1256G>A p.R419Q Missense 8/13 - 1
20-58381181-C-T c.1260C>T p.N420= Synonymous 8/13 - 1
20-58381183-T-C c.1262T>C p.I421T Missense 8/13 - 1
20-58381187-C-T c.1266C>T p.F422= Synonymous 8/13 - 3
20-58381188-C-G c.1267C>G p.P423A Missense 8/13 - 2
20-58381190-C-A c.1269C>A p.P423= Synonymous 8/13 - 2
20-58381190-C-G c.1269C>G p.P423= Synonymous 8/13 - 1
20-58381190-C-T c.1269C>T p.P423= Synonymous 8/13 - 1
20-58381194-A-G c.1273A>G p.R425G Missense 8/13 - 1
20-58381195-G-A c.1274G>A p.R425K Missense 8/13 - 1
20-58381194-A-C c.1273A>C p.R425= Synonymous 8/13 - 1
20-58381196-G-A c.1275G>A p.R425= Synonymous 8/13 - 1
20-58381198-C-T c.1277C>T p.T426I Missense 8/13 - 3
20-58381200-G-C c.1279G>C p.D427H Missense 8/13 - 2
20-58381203-G-A c.1282G>A p.E428K Missense 8/13 - 1
20-58381208-A-C c.1287A>C p.E429D Missense 8/13 - 2
20-58381208-A-T c.1287A>T p.E429D Missense 8/13 - 2
20-58381209-AGA-CAT c.1288_1290delinsCAT p.R430H Missense 8/13 - 1
20-58381209-AGA-TGG c.1288_1290delinsTGG p.R430W Missense 8/13 - 1
20-58381209-AGA-TGT c.1288_1290delinsTGT p.R430C Missense 8/13 - 1
20-58381209-A-T c.1288A>T p.R430* Nonsense 8/13 - 1
20-58381220-C-A c.1299C>A p.I433= Synonymous 8/13 - 1
20-58381221-C-T c.1300C>T p.R434W Missense 8/13 - 1
20-58381222-G-A c.1301G>A p.R434Q Missense 8/13 - 2
20-58381222-G-C c.1301G>C p.R434P Missense 8/13 - 3
20-58381227-C-G c.1306C>G p.Q436E Missense 8/13 - 1
20-58381232-C-A c.1311C>A p.I437= Synonymous 8/13 - 1
20-58381232-C-T c.1311C>T p.I437= Synonymous 8/13 - 3
20-58381238-G-A c.1317G>A p.M439I Missense 8/13 - 2
20-58381240-A-C c.1319A>C p.K440T Missense 8/13 - 1
20-58381243-T-TTTG c.1324_1325insGTT p.L441_S442insC InFrameInsertion 8/13 - 1
20-58381246-CC-AA c.1325_1326delinsAA p.S442* Nonsense 8/13 - 1
20-58381246-C-T c.1325C>T p.S442F Missense 8/13 - 1
20-58381248-A-C c.1327A>C p.K443Q Missense 8/13 - 1
20-58381249-A-C c.1328A>C p.K443T Missense 8/13 - 3
20-58381269-C-T c.1328+20C>T - IntronicSNV - 8/12 3
20-58381410-A-G c.1328+161A>G - IntronicSNV - 8/12 2
20-58381410-A-T c.1328+161A>T - IntronicSNV - 8/12 1
20-58383355-G-T c.1328+2106G>T - IntronicSNV - 8/12 1
20-58386905-C-T c.1328+5656C>T - IntronicSNV - 8/12 1
20-58387142-C-T c.1328+5893C>T - IntronicSNV - 8/12 1
20-58392434-G-A c.1328+11185G>A - IntronicSNV - 8/12 1
20-58393002-G-T c.1328+11753G>T - IntronicSNV - 8/12 8
20-58393545-C-A c.1328+12296C>A - IntronicSNV - 8/12 2
20-58394622-T-G c.1328+13373T>G - IntronicSNV - 8/12 1
20-58398427-G-A c.1329-13133G>A - IntronicSNV - 8/12 1
20-58398427-G-C c.1329-13133G>C - IntronicSNV - 8/12 1
20-58399419-G-A c.1329-12141G>A - IntronicSNV - 8/12 1
20-58399419-G-T c.1329-12141G>T - IntronicSNV - 8/12 1
20-58401688-A-C c.1329-9872A>C - IntronicSNV - 8/12 1
20-58401688-A-G c.1329-9872A>G - IntronicSNV - 8/12 1
20-58402140-A-C c.1329-9420A>C - IntronicSNV - 8/12 1
20-58402140-A-G c.1329-9420A>G - IntronicSNV - 8/12 1
20-58411279-G-A c.1329-281G>A - IntronicSNV - 8/12 2
20-58411279-G-T c.1329-281G>T - IntronicSNV - 8/12 2
20-58411441-T-A c.1329-119T>A - IntronicSNV - 8/12 7
20-58411441-T-C c.1329-119T>C - IntronicSNV - 8/12 7
20-58411562-GG-AT c.1331_1332delinsAT p.R444H Missense 9/13 - 1
20-58411569-C-T c.1338C>T p.S446= Synonymous 9/13 - 2
20-58411573-AGA-TGT c.1342_1344delinsTGT p.R448C Missense 9/13 - 1
20-58411575-A-G c.1344A>G p.R448= Synonymous 9/13 - 1
20-58411576-C-T c.1345C>T p.P449S Missense 9/13 - 2
20-58411578-T-A c.1347T>A p.P449= Synonymous 9/13 - 1
20-58411578-T-C c.1347T>C p.P449= Synonymous 9/13 - 1
20-58411578-T-G c.1347T>G p.P449= Synonymous 9/13 - 1
20-58411582-G-A c.1351G>A p.V451M Missense 9/13 - 2
20-58411583-T-G c.1352T>G p.V451G Missense 9/13 - 1
20-58411585-G-A c.1354G>A p.E452K Missense 9/13 - 1
20-58411593-G-T c.1362G>T p.L454= Synonymous 9/13 - 1
20-58411596-G-A c.1365G>A p.E455= Synonymous 9/13 - 1
20-58411597-A-G c.1366A>G p.R456G Missense 9/13 - 1
20-58411600-A-T c.1369A>T p.R457* Nonsense 9/13 - 1
20-58411601-G-T c.1370G>T p.R457I Missense 9/13 - 1
20-58411616-G-A c.1384+1G>A - IntronicSNV - 9/12 1
20-58411797-A-AT c.1384+190dup - IntronicInsertion - 9/12 1
20-58415358-G-A c.1385-66G>A - IntronicSNV - 9/12 1
20-58415394-T-A c.1385-30T>A - IntronicSNV - 9/12 1
20-58415432-G-A c.1393G>A p.D465N Missense 10/13 - 1
20-58415436-A-G c.1397A>G p.Q466R Missense 10/13 - 1
20-58415438-A-C c.1399A>C p.T467P Missense 10/13 - 3
20-58415439-C-T c.1400C>T p.T467I Missense 10/13 - 1
20-58415441-G-A c.1402G>A p.E468K Missense 10/13 - 1
20-58415445-A-T c.1406A>T p.Q469L Missense 10/13 - 1
20-58415450-G-A c.1411G>A p.E471K Missense 10/13 - 1
20-58415453-AGA-CAT c.1414_1416delinsCAT p.R472H Missense 10/13 - 1
20-58415455-A-C c.1416A>C p.R472S Missense 10/13 - 1
20-58415456-A-C c.1417A>C p.R473= Synonymous 10/13 - 2
20-58415458-A-G c.1419A>G p.R473= Synonymous 10/13 - 1
20-58415459-G-A c.1420G>A p.E474K Missense 10/13 - 1
20-58415464-C-G c.1425C>G p.I475M Missense 10/13 - 1
20-58415466-A-T c.1427A>T p.K476M Missense 10/13 - 1
20-58415467-G-A c.1428G>A p.K476= Synonymous 10/13 - 1
20-58415471-AGA-CAT c.1432_1434delinsCAT p.R478H Missense 10/13 - 1
20-58415473-A-C c.1434A>C p.R478S Missense 10/13 - 1
20-58415473-A-T c.1434A>T p.R478S Missense 10/13 - 1
20-58415474-T-C c.1435T>C p.L479= Synonymous 10/13 - 1
20-58415476-G-A c.1437G>A p.L479= Synonymous 10/13 - 1
20-58415482-A-C c.1443A>C p.R481S Missense 10/13 - 2
20-58415482-A-T c.1443A>T p.R481S Missense 10/13 - 1
20-58415484-A-G c.1445A>G p.K482R Missense 10/13 - 1
20-58416428-C-T c.1447-22C>T - IntronicSNV - 10/12 3
20-58416457-A-G c.1454A>G p.Q485R Missense 11/13 - 1
20-58416474-G-A c.1471G>A p.E491K Missense 11/13 - 1
20-58416474-G-C c.1471G>C p.E491Q Missense 11/13 - 1
20-58416483-G-A c.1480G>A p.D494N Missense 11/13 - 1
20-58416486-AGA-CAT c.1483_1485delinsCAT p.R495H Missense 11/13 - 1
20-58416486-AG-CA c.1483_1484delinsCA p.R495Q Missense 11/13 - 1
20-58416487-G-GA c.1489dup p.I497Nfs*7 Frameshift 11/13 - 1
20-58416495-C-T c.1492C>T p.L498= Synonymous 11/13 - 2
20-58416496-T-G c.1493T>G p.L498R Missense 11/13 - 1
20-58416497-G-A c.1494G>A p.L498= Synonymous 11/13 - 1
20-58416501-C-T c.1498C>T p.R500* Nonsense 11/13 - 5
20-58416515-C-T c.1512C>T p.Y504= Synonymous 11/13 - 1
20-58416516-G-A c.1513G>A p.V505M Missense 11/13 - 2
20-58416519-G-A c.1516G>A p.E506K Missense 11/13 - 5
20-58416526-C-T c.1523C>T p.A508V Missense 11/13 - 1
20-58416532-C-T c.1529C>T p.A510V Missense 11/13 - 2
20-58416533-G-A c.1530G>A p.A510= Synonymous 11/13 - 1
20-58416537-G-A c.1534G>A p.D512N Missense 11/13 - 1
20-58416537-G-C c.1534G>C p.D512H Missense 11/13 - 1
20-58416537-G-T c.1534G>T p.D512Y Missense 11/13 - 1
20-58416545-C-A c.1542C>A p.D514E Missense 11/13 - 1
20-58416545-C-G c.1542C>G p.D514E Missense 11/13 - 1
20-58416547-G-T c.1544G>T p.R515M Missense 11/13 - 1
20-58416546-A-C c.1543A>C p.R515= Synonymous 11/13 - 1
20-58416548-G-A c.1545G>A p.R515= Synonymous 11/13 - 3
20-58416548-G-C c.1545G>C p.R515S Missense 11/13 - 1
20-58416557-C-A c.1554C>A p.D518E Missense 11/13 - 1
20-58416560-A-G c.1557A>G p.K519= Synonymous 11/13 - 3
20-58416561-C-G c.1558C>G p.P520A Missense 11/13 - 1
20-58416569-G-A c.1566G>A p.T522= Synonymous 11/13 - 3
20-58416579-G-A c.1576G>A p.A526T Missense 11/13 - 1
20-58416580-C-T c.1577C>T p.A526V Missense 11/13 - 1
20-58416582-G-A c.1579G>A p.A527T Missense 11/13 - 3
20-58416590-G-A c.1587G>A p.K529= Synonymous 11/13 - 1
20-58416597-A-G c.1587+7A>G - IntronicSNV - 11/12 1
20-58416597-TAA-T c.1587+7_1587+8del - IntronicDeletion - 11/12 1
20-58416598-A-C c.1587+8A>C - IntronicSNV - 11/12 1
20-58416667-T-G c.1587+77T>G - IntronicSNV - 11/12 1
20-58420245-C-T c.1589C>T p.A530V Missense 12/13 - 2
20-58420248-C-T c.1592C>T p.A531V Missense 12/13 - 1
20-58420251-T-C c.1595T>C p.I532T Missense 12/13 - 2
20-58420253-CGT-TGG c.1597_1599delinsTGG p.R533W Missense 12/13 - 1
20-58420253-C-T c.1597C>T p.R533C Missense 12/13 - 3
20-58420254-G-A c.1598G>A p.R533H Missense 12/13 - 1
20-58420259-G-A c.1603G>A p.E535K Missense 12/13 - 1
20-58420259-G-T c.1603G>T p.E535* Nonsense 12/13 - 4
20-58420260-A-C c.1604A>C p.E535A Missense 12/13 - 1
20-58420270-G-A c.1614G>A p.E538= Synonymous 12/13 - 1
20-58420272-A-G c.1616A>G p.Y539C Missense 12/13 - 2
20-58420274-A-C c.1618A>C p.K540Q Missense 12/13 - 3
20-58420277-A-G c.1621A>G p.S541G Missense 12/13 - 1
20-58420278-G-A c.1622G>A p.S541N Missense 12/13 - 1
20-58420280-A-T c.1624A>T p.N542Y Missense 12/13 - 1
20-58420283-G-C c.1627G>C p.E543Q Missense 12/13 - 1
20-58420289-G-A c.1633G>A p.E545K Missense 12/13 - 2
20-58420298-G-T c.1642G>T p.A548S Missense 12/13 - 3
20-58420302-C-A c.1646C>A p.S549* Nonsense 12/13 - 1
20-58420302-C-G c.1646C>G p.S549* Nonsense 12/13 - 1
20-58420308-A-G c.1652A>G p.K551R Missense 12/13 - 1
20-58420313-T-G c.1657T>G p.L553V Missense 12/13 - 2
20-58420317-C-A c.1661C>A p.T554K Missense 12/13 - 1
20-58420336-G-A c.1664+16G>A - IntronicSNV - 12/12 9
20-58420371-C-T c.1664+51C>T - IntronicSNV - 12/12 1
20-58420421-A-G c.1664+101A>G - IntronicSNV - 12/12 1
20-58422126-G-A c.1665-44G>A - IntronicSNV - 12/12 1
20-58422177-AG-CA c.1672_1673delinsCA p.R558Q Missense 13/13 - 1
20-58422177-AGG-CAT c.1672_1674delinsCAT p.R558H Missense 13/13 - 1
20-58422183-T-C c.1678T>C p.*560Qext*13 Missense 13/13 - 1