SKIV2L

SKIV2L Ski2 like RNA helicase

Annotation transcript: NM_006929.5

1471 unique variant annotations were identified in 682 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
6-31926969-G-A c.-1G>A - 5-UTRSNV 1/28 - 1
6-31926969-G-C c.-1G>C - 5-UTRSNV 1/28 - 1
6-31926970-A-G c.1A>G p.M1? Missense 1/28 - 1
6-31926971-T-C c.2T>C p.M1? Missense 1/28 - 1
6-31926974-T-C c.5T>C p.M2T Missense 1/28 - 1
6-31926974-T-G c.5T>G p.M2R Missense 1/28 - 2
6-31926975-G-A c.6G>A p.M2I Missense 1/28 - 1
6-31926976-G-A c.7G>A p.E3K Missense 1/28 - 2
6-31926980-C-T c.11C>T p.T4I Missense 1/28 - 1
6-31926981-A-C c.12A>C p.T4= Synonymous 1/28 - 1
6-31926981-A-G c.12A>G p.T4= Synonymous 1/28 - 1
6-31926981-A-T c.12A>T p.T4= Synonymous 1/28 - 1
6-31926980-CAG-C c.14_15del p.E5Afs*37 Frameshift 1/28 - 1
6-31926985-C-A c.16C>A p.R6= Synonymous 1/28 - 1
6-31926985-CGA-TGT c.16_18delinsTGT p.R6C Missense 1/28 - 1
6-31926987-A-C c.18A>C p.R6= Synonymous 1/28 - 1
6-31926987-A-G c.18A>G p.R6= Synonymous 1/28 - 1
6-31926987-A-T c.18A>T p.R6= Synonymous 1/28 - 1
6-31926986-G-A c.17G>A p.R6Q Missense 1/28 - 1
6-31927000-G-A c.22+9G>A - IntronicSNV - 1/27 1
6-31927080-C-G c.29C>G p.P10R Missense 2/28 - 1
6-31927080-C-T c.29C>T p.P10L Missense 2/28 - 1
6-31927082-C-A c.31C>A p.P11T Missense 2/28 - 2
6-31927082-C-G c.31C>G p.P11A Missense 2/28 - 1
6-31927082-C-T c.31C>T p.P11S Missense 2/28 - 1
6-31927078-A-AC c.32dup p.P12Sfs*31 Frameshift 2/28 - 1
6-31927085-C-T c.34C>T p.P12S Missense 2/28 - 1
6-31927087-A-C c.36A>C p.P12= Synonymous 2/28 - 1
6-31927091-C-G c.40C>G p.P14A Missense 2/28 - 1
6-31927091-C-T c.40C>T p.P14S Missense 2/28 - 4
6-31927092-C-T c.41C>T p.P14L Missense 2/28 - 1
6-31927099-CC-AG c.48_49delinsAG p.D16_L17delinsEV MultiAAMissense 2/28 - 1
6-31927100-C-T c.49C>T p.L17= Synonymous 2/28 - 2
6-31927105-C-A c.54C>A p.P18= Synonymous 2/28 - 1
6-31927105-C-G c.54C>G p.P18= Synonymous 2/28 - 1
6-31927105-C-T c.54C>T p.P18= Synonymous 2/28 - 2
6-31927106-C-T c.55C>T p.L19F Missense 2/28 - 1
6-31927109-C-A c.58C>A p.R20= Synonymous 2/28 - 1
6-31927109-C-T c.58C>T p.R20W Missense 2/28 - 4
6-31927111-G-A c.60G>A p.R20= Synonymous 2/28 - 1
6-31927111-G-C c.60G>C p.R20= Synonymous 2/28 - 1
6-31927111-G-T c.60G>T p.R20= Synonymous 2/28 - 1
6-31927110-GG-AT c.59_60delinsAT p.R20H Missense 2/28 - 1
6-31927110-G-T c.59G>T p.R20L Missense 2/28 - 1
6-31927114-C-A c.63C>A p.A21= Synonymous 2/28 - 3
6-31927114-C-G c.63C>G p.A21= Synonymous 2/28 - 3
6-31927114-C-T c.63C>T p.A21= Synonymous 2/28 - 3
6-31927116-T-C c.65T>C p.V22A Missense 2/28 - 3
6-31927124-G-A c.73G>A p.G25R Missense 2/28 - 2
6-31927128-G-A c.77G>A p.C26Y Missense 2/28 - 1
6-31927129-C-T c.78C>T p.C26= Synonymous 2/28 - 1
6-31927133-G-A c.82G>A p.G28R Missense 2/28 - 1
6-31927135-G-A c.84G>A p.G28= Synonymous 2/28 - 1
6-31927135-G-C c.84G>C p.G28= Synonymous 2/28 - 1
6-31927135-G-T c.84G>T p.G28= Synonymous 2/28 - 2
6-31927137-A-G c.86A>G p.H29R Missense 2/28 - 1
6-31927141-G-C c.90G>C p.W30C Missense 2/28 - 1
6-31927141-G-T c.90G>T p.W30C Missense 2/28 - 1
6-31927142-G-A c.91G>A p.E31K Missense 2/28 - 1
6-31927146-T-A c.95T>A p.L32Q Missense 2/28 - 3
6-31927146-T-C c.95T>C p.L32P Missense 2/28 - 1
6-31927152-A-G c.101A>G p.N34S Missense 2/28 - 1
6-31927154-T-G c.103T>G p.L35V Missense 2/28 - 1
6-31927154-TT-GC c.103_104delinsGC p.L35A Missense 2/28 - 1
6-31927158-CT-AA c.107_108delinsAA p.P36Q Missense 2/28 - 1
6-31927161-G-A c.110G>A p.G37E Missense 2/28 - 1
6-31927163-G-A c.112G>A p.A38T Missense 2/28 - 1
6-31927164-C-G c.113C>G p.A38G Missense 2/28 - 1
6-31927169-G-A c.118G>A p.E40K Missense 2/28 - 1
6-31927169-G-C c.118G>C p.E40Q Missense 2/28 - 1
6-31927170-A-G c.119A>G p.E40G Missense 2/28 - 1
6-31927171-G-A c.120G>A p.E40= Synonymous 2/28 - 1
6-31927171-G-C c.120G>C p.E40D Missense 2/28 - 1
6-31927171-G-T c.120G>T p.E40D Missense 2/28 - 1
6-31927174-T-G c.123T>G p.S41R Missense 2/28 - 1
6-31927176-G-A c.125G>A p.S42N Missense 2/28 - 6
6-31927209-G-A c.126+32G>A - IntronicSNV - 2/27 1
6-31927342-A-G c.126+165A>G - IntronicSNV - 2/27 6
6-31927342-A-T c.126+165A>T - IntronicSNV - 2/27 6
6-31927787-C-A c.127C>A p.L43I Missense 3/28 - 1
6-31927787-C-T c.127C>T p.L43F Missense 3/28 - 1
6-31927792-C-T c.132C>T p.P44= Synonymous 3/28 - 1
6-31927793-C-T c.133C>T p.H45Y Missense 3/28 - 2
6-31927797-G-A c.137G>A p.G46D Missense 3/28 - 1
6-31927797-G-C c.137G>C p.G46A Missense 3/28 - 1
6-31927806-C-T c.146C>T p.P49L Missense 3/28 - 6
6-31927810-T-C c.150T>C p.C50= Synonymous 3/28 - 1
6-31927811-G-A c.151G>A p.A51T Missense 3/28 - 1
6-31927811-GC-AA c.151_152delinsAA p.A51N Missense 3/28 - 1
6-31927817-G-A c.157G>A p.D53N Missense 3/28 - 1
6-31927823-C-A c.163C>A p.Q55K Missense 3/28 - 1
6-31927823-C-T c.163C>T p.Q55* Nonsense 3/28 - 1
6-31927829-G-A c.169G>A p.E57K Missense 3/28 - 3
6-31927829-G-C c.169G>C p.E57Q Missense 3/28 - 1
6-31927830-A-T c.170A>T p.E57V Missense 3/28 - 1
6-31927831-A-C c.171A>C p.E57D Missense 3/28 - 1
6-31927831-A-T c.171A>T p.E57D Missense 3/28 - 1
6-31927833-C-T c.173C>T p.A58V Missense 3/28 - 1
6-31927834-A-C c.174A>C p.A58= Synonymous 3/28 - 1
6-31927834-A-G c.174A>G p.A58= Synonymous 3/28 - 1
6-31927834-A-T c.174A>T p.A58= Synonymous 3/28 - 1
6-31927835-G-C c.175G>C p.E59Q Missense 3/28 - 1
6-31927839-A-G c.179A>G p.Q60R Missense 3/28 - 3
6-31927840-G-A c.180G>A p.Q60Q UnclassifiedSNV 3/28 - 2
6-31927841-T-G c.181T>G p.L61V Missense 3/28 - 1
6-31927847-C-T c.187C>T p.L63= Synonymous 3/28 - 1
6-31927851-C-A c.191C>A p.S64* Nonsense 3/28 - 1
6-31927853-TC-CG c.193_194delinsCG p.S65R Missense 3/28 - 1
6-31927854-C-T c.194C>T p.S65F Missense 3/28 - 2
6-31927853-TC-T c.197del p.P66Qfs*99 Frameshift 3/28 - 2
6-31927857-C-T c.197C>T p.P66L Missense 3/28 - 2
6-31927860-C-T c.200C>T p.A67V Missense 3/28 - 1
6-31927861-C-A c.201C>A p.A67= Synonymous 3/28 - 1
6-31927861-C-G c.201C>G p.A67= Synonymous 3/28 - 1
6-31927861-C-T c.201C>T p.A67= Synonymous 3/28 - 1
6-31927862-T-A c.202T>A p.W68R Missense 3/28 - 4
6-31927863-G-A c.203G>A p.W68* Nonsense 3/28 - 2
6-31927864-G-A c.204G>A p.W68* Nonsense 3/28 - 3
6-31927865-C-G c.205C>G p.L69V Missense 3/28 - 1
6-31927866-T-C c.206T>C p.L69P Missense 3/28 - 1
6-31927868-C-A c.208C>A p.P70T Missense 3/28 - 1
6-31927872-T-A c.212T>A p.L71Q UnclassifiedSNV 3/28 - 2
6-31927882-G-A c.222G>A p.V74= Synonymous 3/28 - 1
6-31927886-C-T c.226C>T p.H76Y Missense 3/28 - 1
6-31927890-C-T c.230C>T p.S77L Missense 3/28 - 1
6-31927893-C-T c.233C>T p.A78V Missense 3/28 - 1
6-31927895-C-T c.235C>T p.R79* Nonsense 3/28 - 3
6-31927896-G-A c.236G>A p.R79Q Missense 3/28 - 3
6-31927895-CGGTGAGGAGTCTGGAGGGGCTTAGACTAGGGTGATGGGTTCCTGAAGGAAGCTGGGACA-C c.236+1_237-42del - SpliceDonorDeletion - 3/27 1
6-31928000-A-C c.240A>C p.K80N Missense 4/28 - 1
6-31928000-A-T c.240A>T p.K80N Missense 4/28 - 1
6-31928006-G-A c.246G>A p.Q82= Synonymous 4/28 - 1
6-31928007-AG-CC c.247_248delinsCC p.R83P Missense 4/28 - 1
6-31928014-C-T c.254C>T p.T85M Missense 4/28 - 15
6-31928016-G-A c.256G>A p.D86N Missense 4/28 - 2
6-31928018-T-G c.258T>G p.D86E Missense 4/28 - 1
6-31928019-C-A c.259C>A p.P87T Missense 4/28 - 1
6-31928020-C-T c.260C>T p.P87L Missense 4/28 - 1
6-31928023-G-T c.263G>T p.W88L Missense 4/28 - 1
6-31928034-G-T c.274G>T p.A92S Missense 4/28 - 1
6-31928037-G-A c.277G>A p.V93I Missense 4/28 - 1
6-31928039-C-G c.279C>G p.V93= Synonymous 4/28 - 2
6-31928039-C-T c.279C>T p.V93= Synonymous 4/28 - 1
6-31928041-T-G c.281T>G p.L94R Missense 4/28 - 1
6-31928044-G-A c.284G>A p.G95E Missense 4/28 - 1
6-31928044-G-C c.284G>C p.G95A Missense 4/28 - 1
6-31928047-C-G c.287C>G p.A96G Missense 4/28 - 1
6-31928048-CC-TT c.288_289delinsTT p.P97S Missense 4/28 - 1
6-31928049-C-A c.289C>A p.P97T Missense 4/28 - 1
6-31928049-C-T c.289C>T p.P97S Missense 4/28 - 4
6-31928052-G-T c.292G>T p.V98F Missense 4/28 - 1
6-31928058-T-A c.298T>A p.S100T Missense 4/28 - 1
6-31928058-TC-AA c.298_299delinsAA p.S100N Missense 4/28 - 1
6-31928058-T-G c.298T>G p.S100A Missense 4/28 - 1
6-31928060-C-A c.300C>A p.S100= Synonymous 4/28 - 1
6-31928061-G-A c.301G>A p.D101N Missense 4/28 - 4
6-31928064-C-G c.304C>G p.L102V Missense 4/28 - 1
6-31928064-C-T c.304C>T p.L102= Synonymous 4/28 - 1
6-31928065-T-A c.305T>A p.L102Q Missense 4/28 - 1
6-31928066-A-G c.306A>G p.L102= Synonymous 4/28 - 1
6-31928067-C-G c.307C>G p.Q103E Missense 4/28 - 1
6-31928068-A-G c.308A>G p.Q103R Missense 4/28 - 5
6-31928072-C-A c.312C>A p.A104= Synonymous 4/28 - 1
6-31928072-C-G c.312C>G p.A104= Synonymous 4/28 - 1
6-31928072-C-T c.312C>T p.A104= Synonymous 4/28 - 1
6-31928073-C-A c.313C>A p.Q105K Missense 4/28 - 2
6-31928073-C-T c.313C>T p.Q105* Nonsense 4/28 - 1
6-31928076-AG-CT c.316_317inv p.R106L Missense 4/28 - 1
6-31928082-C-A c.322C>A p.P108T Missense 4/28 - 1
6-31928084-A-C c.324A>C p.P108= Synonymous 4/28 - 1
6-31928084-A-G c.324A>G p.P108= Synonymous 4/28 - 1
6-31928084-A-T c.324A>T p.P108= Synonymous 4/28 - 1
6-31928088-ACA-TGT c.328_330inv p.T110C Missense 4/28 - 1
6-31928102-GG-TT c.342_343delinsTT p.G115C Missense 4/28 - 1
6-31928103-G-T c.343G>T p.G115C Missense 4/28 - 1
6-31928104-G-A c.344G>A p.G115D Missense 4/28 - 1
6-31928104-G-T c.344G>T p.G115V Missense 4/28 - 1
6-31928106-T-C c.346T>C p.Y116H Missense 4/28 - 3
6-31928107-A-G c.347A>G p.Y116C Missense 4/28 - 2
6-31928112-G-A c.352G>A p.E118K Missense 4/28 - 1
6-31928112-G-T c.352G>T p.E118* Nonsense 4/28 - 1
6-31928119-G-A c.354+5G>A - IntronicSNV - 4/27 2
6-31928209-G-A c.355G>A p.V119I Missense 5/28 - 1
6-31928212-T-C c.358T>C p.L120= Synonymous 5/28 - 1
6-31928216-T-C c.362T>C p.L121P Missense 5/28 - 2
6-31928215-C-T c.361C>T p.L121= Synonymous 5/28 - 1
6-31928217-G-A c.363G>A p.L121= Synonymous 5/28 - 1
6-31928217-G-C c.363G>C p.L121= Synonymous 5/28 - 1
6-31928217-G-T c.363G>T p.L121= Synonymous 5/28 - 1
6-31928218-G-A c.364G>A p.E122K Missense 5/28 - 1
6-31928218-G-C c.364G>C p.E122Q Missense 5/28 - 1
6-31928220-G-C c.366G>C p.E122D Missense 5/28 - 1
6-31928220-G-T c.366G>T p.E122D Missense 5/28 - 3
6-31928225-CA-TG c.371_372inv p.T124M Missense 5/28 - 1
6-31928225-C-G c.371C>G p.T124R Missense 5/28 - 1
6-31928225-C-T c.371C>T p.T124I Missense 5/28 - 1
6-31928226-A-T c.372A>T p.T124= Synonymous 5/28 - 1
6-31928228-A-G c.374A>G p.N125S Missense 5/28 - 1
6-31928230-C-G c.376C>G p.L126V Missense 5/28 - 1
6-31928230-C-T c.376C>T p.L126F Missense 5/28 - 1
6-31928232-C-G c.378C>G p.L126= Synonymous 5/28 - 1
6-31928232-C-T c.378C>T p.L126= Synonymous 5/28 - 1
6-31928234-C-T c.380C>T p.S127L Missense 5/28 - 8
6-31928238-T-C c.384T>C p.A128= Synonymous 5/28 - 3
6-31928238-T-G c.384T>G p.A128= Synonymous 5/28 - 2
6-31928239-A-T c.385A>T p.T129S Missense 5/28 - 1
6-31928240-C-T c.386C>T p.T129I Missense 5/28 - 1
6-31928242-A-G c.388A>G p.T130A Missense 5/28 - 1
6-31928242-A-T c.388A>T p.T130S Missense 5/28 - 1
6-31928243-C-G c.389C>G p.T130S Missense 5/28 - 1
6-31928245-T-G c.391T>G p.S131A Missense 5/28 - 3
6-31928246-C-G c.392C>G p.S131C Missense 5/28 - 1
6-31928246-C-T c.392C>T p.S131F Missense 5/28 - 5
6-31928248-T-C c.394T>C p.L132= Synonymous 5/28 - 1
6-31928248-TT-CC c.394_395delinsCC p.L132P Missense 5/28 - 1
6-31928250-G-A c.396G>A p.L132= Synonymous 5/28 - 1
6-31928252-C-T c.398C>T p.S133F Missense 5/28 - 1
6-31928254-C-G c.400C>G p.L134V Missense 5/28 - 3
6-31928255-T-A c.401T>A p.L134H Missense 5/28 - 4
6-31928256-T-A c.402T>A p.L134= Synonymous 5/28 - 1
6-31928256-T-C c.402T>C p.L134= Synonymous 5/28 - 1
6-31928256-T-G c.402T>G p.L134= Synonymous 5/28 - 1
6-31928264-C-T c.410C>T p.P137L Missense 5/28 - 1
6-31928266-C-T c.412C>T p.P138S Missense 5/28 - 1
6-31928267-C-G c.413C>G p.P138R Missense 5/28 - 1
6-31928267-C-T c.413C>T p.P138L Missense 5/28 - 2
6-31928268-A-AG c.417dup p.P140Afs*22 Frameshift 5/28 - 1
6-31928273-C-A c.419C>A p.P140Q Missense 5/28 - 1
6-31928275-G-A c.421G>A p.A141T Missense 5/28 - 1
6-31928276-C-T c.422C>T p.A141V Missense 5/28 - 3
6-31928279-C-T c.425C>T p.S142F Missense 5/28 - 5
6-31928281-C-A c.427C>A p.Q143K Missense 5/28 - 2
6-31928288-T-C c.434T>C p.L145S Missense 5/28 - 1
6-31928290-T-A c.436T>A p.W146R Missense 5/28 - 1
6-31928290-T-C c.436T>C p.W146R Missense 5/28 - 1
6-31928294-G-T c.440G>T p.G147V Missense 5/28 - 1
6-31928300-C-T c.446C>T p.P149L Missense 5/28 - 2
6-31928305-C-A c.451C>A p.Q151K Missense 5/28 - 1
6-31928306-A-G c.452A>G p.Q151R Missense 5/28 - 32
6-31928307-G-A c.453G>A p.Q151= Synonymous 5/28 - 3
6-31928310-T-C c.456T>C p.Y152= Synonymous 5/28 - 1
6-31928311-C-T c.457C>T p.P153S Missense 5/28 - 5
6-31928317-T-C c.463T>C p.W155R Missense 5/28 - 1
6-31928320-C-G c.466C>G p.P156A Missense 5/28 - 1
6-31928321-C-T c.467C>T p.P156L Missense 5/28 - 1
6-31928447-G-A c.474G>A p.G158= Synonymous 6/28 - 1
6-31928448-A-G c.475A>G p.M159V Missense 6/28 - 2
6-31928450-G-A c.477G>A p.M159I Missense 6/28 - 1
6-31928450-G-C c.477G>C p.M159I Missense 6/28 - 1
6-31928450-G-T c.477G>T p.M159I Missense 6/28 - 2
6-31928452-A-C c.479A>C p.D160A Missense 6/28 - 1
6-31928454-G-C c.481G>C p.E161Q Missense 6/28 - 1
6-31928456-A-G c.483A>G p.E161= Synonymous 6/28 - 1
6-31928456-A-T c.483A>T p.E161D Missense 6/28 - 1
6-31928457-C-T c.484C>T p.P162S Missense 6/28 - 5
6-31928461-C-T c.488C>T p.T163I Missense 6/28 - 1
6-31928466-A-G c.493A>G p.T165A Missense 6/28 - 2
6-31928469-G-A c.496G>A p.D166N Missense 6/28 - 1
6-31928469-G-T c.496G>T p.D166Y Missense 6/28 - 1
6-31928472-C-A c.499C>A p.L167M Missense 6/28 - 1
6-31928479-C-T c.506C>T p.T169I Missense 6/28 - 1
6-31928481-C-T c.508C>T p.R170W Missense 6/28 - 2
6-31928482-G-T c.509G>T p.R170L Missense 6/28 - 1
6-31928484-G-A c.511G>A p.E171K Missense 6/28 - 2
6-31928485-A-G c.512A>G p.E171G Missense 6/28 - 1
6-31928488-A-G c.515A>G p.E172G Missense 6/28 - 1
6-31928496-G-A c.523G>A p.E175K Missense 6/28 - 1
6-31928498-G-C c.525G>C p.E175D Missense 6/28 - 2
6-31928498-G-T c.525G>T p.E175D Missense 6/28 - 2
6-31928499-G-A c.526G>A p.E176K Missense 6/28 - 1
6-31928500-A-G c.527A>G p.E176G Missense 6/28 - 1
6-31928503-T-C c.530T>C p.I177T Missense 6/28 - 1
6-31928508-T-C c.535T>C p.F179L Missense 6/28 - 1
6-31928508-T-G c.535T>G p.F179V Missense 6/28 - 1
6-31928513-G-T c.540G>T p.E180D Missense 6/28 - 1
6-31928516-A-T c.543A>T p.K181N Missense 6/28 - 1
6-31928664-A-G c.544+147A>G - IntronicSNV - 6/27 1
6-31928691-G-A c.545-127G>A - IntronicSNV - 6/27 5
6-31928799-T-A c.545-19T>A - IntronicSNV - 6/27 22
6-31928799-T-C c.545-19T>C - IntronicSNV - 6/27 22
6-31928820-C-A c.547C>A p.L183I Missense 7/28 - 1
6-31928820-C-G c.547C>G p.L183V Missense 7/28 - 5
6-31928820-C-T c.547C>T p.L183F Missense 7/28 - 1
6-31928821-T-C c.548T>C p.L183P Missense 7/28 - 1
6-31928818-ATCT-A c.550_552del p.L184del InFrameDeletion 7/28 - 1
6-31928823-C-G c.550C>G p.L184V Missense 7/28 - 1
6-31928823-C-T c.550C>T p.L184F Missense 7/28 - 1
6-31928825-T-A c.552T>A p.L184= Synonymous 7/28 - 1
6-31928825-T-C c.552T>C p.L184= Synonymous 7/28 - 1
6-31928825-T-G c.552T>G p.L184= Synonymous 7/28 - 1
6-31928827-C-A c.554C>A p.T185N Missense 7/28 - 1
6-31928827-CT-TG c.554_555delinsTG p.T185M Missense 7/28 - 1
6-31928839-G-C c.566G>C p.G189A Missense 7/28 - 1
6-31928840-T-A c.567T>A p.G189= Synonymous 7/28 - 1
6-31928840-T-C c.567T>C p.G189= Synonymous 7/28 - 1
6-31928840-T-G c.567T>G p.G189= Synonymous 7/28 - 1
6-31928846-G-C c.573G>C p.K191N Missense 7/28 - 1
6-31928846-G-T c.573G>T p.K191N Missense 7/28 - 1
6-31928848-A-G c.575A>G p.K192R Missense 7/28 - 1
6-31928851-G-T c.578G>T p.G193V Missense 7/28 - 1
6-31928855-G-A c.582G>A p.M194I Missense 7/28 - 1
6-31928856-G-T c.583G>T p.D195Y Missense 7/28 - 1
6-31928857-A-G c.584A>G p.D195G Missense 7/28 - 1
6-31928858-C-A c.585C>A p.D195E Missense 7/28 - 1
6-31928858-C-G c.585C>G p.D195E Missense 7/28 - 1
6-31928858-C-T c.585C>T p.D195= Synonymous 7/28 - 1
6-31928860-T-C c.587T>C p.F196S Missense 7/28 - 1
6-31928861-T-C c.588T>C p.F196= Synonymous 7/28 - 1
6-31928863-C-G c.590C>G p.A197G Missense 7/28 - 1
6-31928863-C-T c.590C>T p.A197V Missense 7/28 - 1
6-31928866-C-A c.593C>A p.P198Q Missense 7/28 - 2
6-31928867-A-G c.594A>G p.P198= Synonymous 7/28 - 1
6-31928871-G-A c.598G>A p.D200N Missense 7/28 - 1
6-31928979-C-T c.605C>T p.P202L Missense 8/28 - 1
6-31928981-A-C c.607A>C p.T203P Missense 8/28 - 1
6-31928981-A-G c.607A>G p.T203A Missense 8/28 - 1
6-31928985-C-T c.611C>T p.P204L Missense 8/28 - 1
6-31928987-G-A c.613G>A p.A205T Missense 8/28 - 2
6-31928987-G-C c.613G>C p.A205P Missense 8/28 - 1
6-31928989-T-A c.615T>A p.A205= Synonymous 8/28 - 2
6-31928989-T-C c.615T>C p.A205= Synonymous 8/28 - 2
6-31928989-T-G c.615T>G p.A205= Synonymous 8/28 - 2
6-31928994-G-A c.620G>A p.G207E Missense 8/28 - 1
6-31928994-G-T c.620G>T p.G207V Missense 8/28 - 1
6-31928995-A-C c.621A>C p.G207= Synonymous 8/28 - 1
6-31928995-A-G c.621A>G p.G207= Synonymous 8/28 - 1
6-31928995-A-T c.621A>T p.G207= Synonymous 8/28 - 1
6-31928996-C-T c.622C>T p.L208= Synonymous 8/28 - 3
6-31928997-T-C c.623T>C p.L208P Missense 8/28 - 1
6-31928998-A-C c.624A>C p.L208= Synonymous 8/28 - 2
6-31928998-A-G c.624A>G p.L208= Synonymous 8/28 - 2
6-31928998-A-T c.624A>T p.L208= Synonymous 8/28 - 2
6-31929005-C-T c.631C>T p.L211F Missense 8/28 - 1
6-31929008-AG-TT c.634_635delinsTT p.S212F Missense 8/28 - 1
6-31929011-T-C c.637T>C p.C213R Missense 8/28 - 1
6-31929014-A-C c.640A>C p.M214L Missense 8/28 - 42
6-31929014-A-T c.640A>T p.M214L Missense 8/28 - 4
6-31929020-G-A c.646G>A p.E216K Missense 8/28 - 1
6-31929022-G-C c.648G>C p.E216D Missense 8/28 - 1
6-31929032-TTG-ATC c.658_660delinsATC p.L220I Missense 8/28 - 1
6-31929033-T-C c.659T>C p.L220S Missense 8/28 - 1
6-31929038-G-A c.664G>A p.G222R Missense 8/28 - 2
6-31929041-G-A c.667G>A p.G223S Missense 8/28 - 1
6-31929042-GT-AG c.668_669delinsAG p.G223E Missense 8/28 - 1
6-31929046-C-T c.672C>T p.D224= Synonymous 8/28 - 1
6-31929047-G-A c.673G>A p.E225K Missense 8/28 - 1
6-31929050-G-A c.676G>A p.D226N Missense 8/28 - 1
6-31929050-G-C c.676G>C p.D226H Missense 8/28 - 2
6-31929053-G-C c.679G>C p.E227Q Missense 8/28 - 1
6-31929054-A-T c.680A>T p.E227V Missense 8/28 - 1
6-31929055-G-GT c.681_682insT p.N228* Nonsense 8/28 - 1
6-31929057-A-G c.683A>G p.N228S Missense 8/28 - 1
6-31929066-GT-G c.692del p.V231Gfs*30 Frameshift 8/28 - 1
6-31929067-G-T c.693G>T p.V231= Synonymous 8/28 - 1
6-31929066-TG-T c.695del p.G232Dfs*29 Frameshift 8/28 - 1
6-31929069-G-A c.695G>A p.G232E Missense 8/28 - 2
6-31929075-C-T c.701C>T p.P234L Missense 8/28 - 3
6-31929077-G-A c.703G>A p.G235R Missense 8/28 - 2
6-31929077-G-C c.703G>C p.G235R Missense 8/28 - 2
6-31929078-G-C c.704G>C p.G235A Missense 8/28 - 1
6-31929080-G-A c.706G>A p.G236S Missense 8/28 - 1
6-31929080-GG-AC c.706_707delinsAC p.G236T Missense 8/28 - 1
6-31929083-C-A c.709C>A p.P237T Missense 8/28 - 1
6-31929083-C-T c.709C>T p.P237S Missense 8/28 - 1
6-31929084-C-T c.710C>T p.P237L Missense 8/28 - 1
6-31929085-C-A c.711C>A p.P237= Synonymous 8/28 - 2
6-31929085-C-G c.711C>G p.P237= Synonymous 8/28 - 2
6-31929085-C-T c.711C>T p.P237= Synonymous 8/28 - 2
6-31929090-G-C c.716G>C p.G239A Missense 8/28 - 1
6-31929090-G-T c.716G>T p.G239V Missense 8/28 - 1
6-31929091-G-A c.717G>A p.G239= Synonymous 8/28 - 1
6-31929091-G-C c.717G>C p.G239= Synonymous 8/28 - 1
6-31929091-G-T c.717G>T p.G239= Synonymous 8/28 - 1
6-31929092-G-A c.718G>A p.D240N Missense 8/28 - 1
6-31929102-C-T c.728C>T p.S243L Missense 8/28 - 2
6-31929104-G-T c.730G>T p.A244S Missense 8/28 - 1
6-31929105-C-G c.731C>G p.A244G Missense 8/28 - 1
6-31929109-T-A c.735T>A p.S245= Synonymous 8/28 - 1
6-31929109-T-C c.735T>C p.S245= Synonymous 8/28 - 1
6-31929109-T-G c.735T>G p.S245= Synonymous 8/28 - 1
6-31929110-C-T c.736C>T p.P246S Missense 8/28 - 6
6-31929112-C-T c.738C>T p.P246= Synonymous 8/28 - 1
6-31929113-T-G c.739T>G p.C247G Missense 8/28 - 1
6-31929114-G-A c.740G>A p.C247Y Missense 8/28 - 1
6-31929115-C-G c.741C>G p.C247W Missense 8/28 - 4
6-31929122-C-T c.748C>T p.P250S Missense 8/28 - 6
6-31929123-C-T c.749C>T p.P250L Missense 8/28 - 2
6-31929124-C-T c.750C>T p.P250= Synonymous 8/28 - 1
6-31929131-C-T c.757C>T p.R253* Nonsense 8/28 - 1
6-31929132-G-A c.758G>A p.R253Q Missense 8/28 - 1
6-31929137-AG-GC c.763_764delinsGC p.S255A Missense 8/28 - 1
6-31929139-C-G c.765C>G p.S255R Missense 8/28 - 1
6-31929140-AGC-TGA c.766_768delinsTGA p.S256* Nonsense 8/28 - 1
6-31929140-AG-GC c.766_767delinsGC p.S256A Missense 8/28 - 1
6-31929142-C-T c.768C>T p.S256= Synonymous 8/28 - 2
6-31929144-T-A c.770T>A p.L257* Nonsense 8/28 - 1
6-31929146-G-A c.772G>A p.E258K Missense 8/28 - 1
6-31929148-A-G c.774A>G p.E258= Synonymous 8/28 - 4
6-31929149-G-C c.775G>C p.D259H Missense 8/28 - 1
6-31929151-C-A c.777C>A p.D259E Missense 8/28 - 1
6-31929152-C-G c.778C>G p.L260V Missense 8/28 - 1
6-31929153-T-C c.779T>C p.L260P Missense 8/28 - 1
6-31929325-A-T c.791A>T p.E264V Missense 9/28 - 2
6-31929327-G-A c.793G>A p.A265T Missense 9/28 - 2
6-31929328-C-T c.794C>T p.A265V Missense 9/28 - 2
6-31929329-G-A c.795G>A p.A265= Synonymous 9/28 - 3
6-31929329-G-C c.795G>C p.A265= Synonymous 9/28 - 3
6-31929329-G-T c.795G>T p.A265= Synonymous 9/28 - 3
6-31929330-TC-AA c.796_797delinsAA p.S266N Missense 9/28 - 1
6-31929330-TC-CT c.796_797delinsCT p.S266L Missense 9/28 - 1
6-31929333-A-G c.799A>G p.T267A Missense 9/28 - 1
6-31929334-C-T c.800C>T p.T267I Missense 9/28 - 1
6-31929336-G-A c.802G>A p.A268T Missense 9/28 - 1
6-31929342-TC-CG c.808_809delinsCG p.S270R Missense 9/28 - 1
6-31929345-CA-C c.811del p.T271Pfs*83 Frameshift 9/28 - 1
6-31929348-C-A c.814C>A p.P272T Missense 9/28 - 1
6-31929351-G-C c.817G>C p.E273Q Missense 9/28 - 1
6-31929356-C-A c.822C>A p.A274= Synonymous 9/28 - 1
6-31929367-C-T c.833C>T p.P278L Missense 9/28 - 1
6-31929370-C-T c.836C>T p.S279F Missense 9/28 - 1
6-31929371-T-C c.837T>C p.S279= Synonymous 9/28 - 1
6-31929372-C-G c.838C>G p.Q280E Missense 9/28 - 1
6-31929373-A-C c.839A>C p.Q280P Missense 9/28 - 1
6-31929373-A-T c.839A>T p.Q280L Missense 9/28 - 1
6-31929382-G-A c.848G>A p.W283* Nonsense 9/28 - 7
6-31929382-G-T c.848G>T p.W283L Missense 9/28 - 1
6-31929384-G-A c.850G>A p.A284T Missense 9/28 - 2
6-31929388-T-G c.854T>G p.I285S Missense 9/28 - 1
6-31929390-C-T c.856C>T p.P286S Missense 9/28 - 2
6-31929394-T-C c.860T>C p.V287A Missense 9/28 - 1
6-31929399-G-A c.865G>A p.A289T Missense 9/28 - 1
6-31929406-C-A c.872C>A p.S291Y Missense 9/28 - 2
6-31929411-G-A c.877G>A p.V293I Missense 9/28 - 1
6-31929415-G-C c.881G>C p.G294A Missense 9/28 - 1
6-31929417-G-A c.883G>A p.D295N Missense 9/28 - 1
6-31929418-A-G c.884A>G p.D295G Missense 9/28 - 1
6-31929422-C-G c.888C>G p.F296L Missense 9/28 - 1
6-31929423-T-C c.889T>C p.Y297H Missense 9/28 - 1
6-31929424-A-G c.890A>G p.Y297C Missense 9/28 - 1
6-31929424-A-T c.890A>T p.Y297F Missense 9/28 - 1
6-31929426-C-T c.892C>T p.R298C Missense 9/28 - 1
6-31929427-G-A c.893G>A p.R298H Missense 9/28 - 1
6-31929427-GC-AA c.893_894delinsAA p.R298Q Missense 9/28 - 1
6-31929429-C-A c.895C>A p.L299I Missense 9/28 - 1
6-31929430-T-G c.896T>G p.L299R Missense 9/28 - 1
6-31929435-C-T c.901C>T p.P301S Missense 9/28 - 2
6-31929437-C-A c.903C>A p.P301= Synonymous 9/28 - 1
6-31929438-C-T c.904C>T p.Q302* Nonsense 9/28 - 4
6-31929442-C-T c.908C>T p.P303L Missense 9/28 - 1
6-31929450-C-G c.916C>G p.Q306E Missense 9/28 - 1
6-31929450-C-T c.916C>T p.Q306* Nonsense 9/28 - 1
6-31929510-C-T c.918+58C>T - IntronicSNV - 9/27 1
6-31929687-G-A c.920G>A p.W307* Nonsense 10/28 - 1
6-31929687-G-T c.920G>T p.W307L Missense 10/28 - 2
6-31929690-C-T c.923C>T p.A308V Missense 10/28 - 2
6-31929702-A-G c.935A>G p.D312G Missense 10/28 - 1
6-31929706-G-A c.939G>A p.V313= Synonymous 10/28 - 1
6-31929706-G-C c.939G>C p.V313= Synonymous 10/28 - 1
6-31929706-G-T c.939G>T p.V313= Synonymous 10/28 - 1
6-31929710-C-A c.943C>A p.Q315K Missense 10/28 - 1
6-31929710-C-G c.943C>G p.Q315E Missense 10/28 - 1
6-31929711-A-G c.944A>G p.Q315R Missense 10/28 - 1
6-31929713-A-C c.946A>C p.K316Q Missense 10/28 - 1
6-31929720-C-G c.953C>G p.A318G Missense 10/28 - 1
6-31929721-C-T c.954C>T p.A318= Synonymous 10/28 - 1
6-31929722-A-G c.955A>G p.I319V Missense 10/28 - 1
6-31929731-T-A c.964T>A p.L322M Missense 10/28 - 1
6-31929734-G-A c.967G>A p.E323K Missense 10/28 - 1
6-31929737-CG-TA c.970_971delinsTA p.R324* Nonsense 10/28 - 1
6-31929737-C-T c.970C>T p.R324W Missense 10/28 - 9
6-31929738-G-A c.971G>A p.R324Q Missense 10/28 - 1
6-31929740-C-T c.973C>T p.H325Y Missense 10/28 - 1
6-31929744-A-C c.977A>C p.D326A Missense 10/28 - 1
6-31929746-T-C c.979T>C p.S327P Missense 10/28 - 1
6-31929752-T-C c.985T>C p.F329L Missense 10/28 - 1
6-31929755-G-C c.988G>C p.V330L Missense 10/28 - 1
6-31929757-C-A c.990C>A p.V330= Synonymous 10/28 - 1
6-31929757-C-G c.990C>G p.V330= Synonymous 10/28 - 1
6-31929757-C-T c.990C>T p.V330= Synonymous 10/28 - 3
6-31929758-G-A c.991G>A p.A331T Missense 10/28 - 2
6-31929759-C-T c.992C>T p.A331V Missense 10/28 - 2
6-31929761-G-C c.994G>C p.A332P Missense 10/28 - 1
6-31929762-C-T c.995C>T p.A332V Missense 10/28 - 1
6-31929764-C-A c.997C>A p.H333N Missense 10/28 - 1
6-31929764-C-G c.997C>G p.H333D Missense 10/28 - 1
6-31929767-AC-TA c.1000_1001delinsTA p.T334* Nonsense 10/28 - 1
6-31929770-TC-CT c.1003_1004delinsCT p.S335L Missense 10/28 - 1
6-31929771-CT-AA c.1004_1005delinsAA p.S335* Nonsense 10/28 - 1
6-31929774-C-G c.1007C>G p.A336G Missense 10/28 - 1
6-31929778-A-T c.1011A>T p.G337= Synonymous 10/28 - 1
6-31929780-A-G c.1013A>G p.K338R Missense 10/28 - 1
6-31929782-A-G c.1015A>G p.T339A Missense 10/28 - 1
6-31929785-G-A c.1018G>A p.V340I Missense 10/28 - 1
6-31929786-T-C c.1019T>C p.V340A Missense 10/28 - 2
6-31929785-G-GT c.1020dup p.V341Cfs*3 Frameshift 10/28 - 1
6-31929787-T-C c.1020T>C p.V340= Synonymous 10/28 - 1
6-31929788-G-C c.1021G>C p.V341L Missense 10/28 - 1
6-31929789-T-G c.1022T>G p.V341G Missense 10/28 - 11
6-31929792-C-A c.1025C>A p.A342D Missense 10/28 - 1
6-31929794-G-T c.1027G>T p.E343* Nonsense 10/28 - 1
6-31929797-T-C c.1030T>C p.Y344H Missense 10/28 - 1
6-31929800-G-A c.1033G>A p.A345T Missense 10/28 - 1
6-31929803-A-G c.1036A>G p.I346V Missense 10/28 - 4
6-31929804-T-C c.1037T>C p.I346T Missense 10/28 - 1
6-31929806-G-T c.1039G>T p.A347S Missense 10/28 - 1
6-31929808-C-A c.1041C>A p.A347= Synonymous 10/28 - 3
6-31929808-C-G c.1041C>G p.A347= Synonymous 10/28 - 3
6-31929808-C-T c.1041C>T p.A347= Synonymous 10/28 - 5
6-31929809-C-T c.1042C>T p.L348= Synonymous 10/28 - 1
6-31929811-G-A c.1044G>A p.L348= Synonymous 10/28 - 2
6-31929811-G-C c.1044G>C p.L348= Synonymous 10/28 - 1
6-31929811-G-T c.1044G>T p.L348= Synonymous 10/28 - 1
6-31929812-G-A c.1045G>A p.A349T Missense 10/28 - 1
6-31929813-C-A c.1046C>A p.A349D Missense 10/28 - 3
6-31929815-C-T c.1048C>T p.Q350* Nonsense 10/28 - 1
6-31929817-G-A c.1050G>A p.Q350= Synonymous 10/28 - 1
6-31929822-A-C c.1055A>C p.H352P Missense 10/28 - 1
6-31929830-C-T c.1063C>T p.R355C Missense 10/28 - 2
6-31929831-G-A c.1064G>A p.R355H Missense 10/28 - 1
6-31929831-G-C c.1064G>C p.R355P Missense 10/28 - 2
6-31930222-C-T c.1071C>T p.I357= Synonymous 11/28 - 1
6-31930229-TC-GG c.1078_1079delinsGG p.S360G Missense 11/28 - 1
6-31930230-C-T c.1079C>T p.S360L Missense 11/28 - 3
6-31930231-G-A c.1080G>A p.S360= Synonymous 11/28 - 2
6-31930231-G-C c.1080G>C p.S360= Synonymous 11/28 - 1
6-31930231-G-T c.1080G>T p.S360= Synonymous 11/28 - 2
6-31930233-C-T c.1082C>T p.P361L Missense 11/28 - 1
6-31930234-C-A c.1083C>A p.P361= Synonymous 11/28 - 1
6-31930234-C-T c.1083C>T p.P361= Synonymous 11/28 - 1
6-31930235-A-G c.1084A>G p.I362V Missense 11/28 - 1
6-31930237-C-A c.1086C>A p.I362= Synonymous 11/28 - 1
6-31930237-C-T c.1086C>T p.I362= Synonymous 11/28 - 1
6-31930240-G-A c.1089G>A p.K363= Synonymous 11/28 - 1
6-31930242-C-T c.1091C>T p.A364V Missense 11/28 - 2
6-31930246-G-A c.1095G>A p.L365= Synonymous 11/28 - 1
6-31930247-A-C c.1096A>C p.S366R Missense 11/28 - 1
6-31930249-C-A c.1098C>A p.S366R Missense 11/28 - 1
6-31930249-C-G c.1098C>G p.S366R Missense 11/28 - 1
6-31930253-C-T c.1102C>T p.Q368* Nonsense 11/28 - 1
6-31930257-AG-GC c.1106_1107delinsGC p.K369S Missense 11/28 - 1
6-31930258-G-A c.1107G>A p.K369= Synonymous 11/28 - 1
6-31930258-G-C c.1107G>C p.K369N Missense 11/28 - 3
6-31930258-G-T c.1107G>T p.K369N Missense 11/28 - 2
6-31930260-T-C c.1109T>C p.F370S Missense 11/28 - 1
6-31930261-C-T c.1110C>T p.F370= Synonymous 11/28 - 1
6-31930262-C-T c.1111C>T p.R371W Missense 11/28 - 1
6-31930263-G-A c.1112G>A p.R371Q Missense 11/28 - 2
6-31930263-G-T c.1112G>T p.R371L Missense 11/28 - 3
6-31930268-T-G c.1117T>G p.F373V Missense 11/28 - 1
6-31930270-C-T c.1119C>T p.F373= Synonymous 11/28 - 1
6-31930271-C-T c.1120C>T p.R374* Nonsense 11/28 - 5
6-31930272-G-A c.1121G>A p.R374Q Missense 11/28 - 4
6-31930274-A-G c.1123A>G p.N375D Missense 11/28 - 1
6-31930277-A-G c.1126A>G p.T376A Missense 11/28 - 3
6-31930283-G-A c.1132G>A p.G378R Missense 11/28 - 1
6-31930283-GG-CT c.1132_1133delinsCT p.G378L Missense 11/28 - 1
6-31930283-GG-TA c.1132_1133delinsTA p.G378* Nonsense 11/28 - 1
6-31930283-GG-TT c.1132_1133delinsTT p.G378L Missense 11/28 - 1
6-31930285-G-C c.1134G>C p.G378= Synonymous 11/28 - 1
6-31930287-A-T c.1136A>T p.D379V Missense 11/28 - 1
6-31930289-G-A c.1138G>A p.V380M Missense 11/28 - 1
6-31930289-G-T c.1138G>T p.V380L Missense 11/28 - 1
6-31930294-G-A c.1143G>A p.G381= Synonymous 11/28 - 2
6-31930294-G-C c.1143G>C p.G381= Synonymous 11/28 - 2
6-31930294-G-T c.1143G>T p.G381= Synonymous 11/28 - 2
6-31930302-CC-GG c.1151_1152inv p.T384R Missense 11/28 - 1
6-31930302-C-G c.1151C>G p.T384S Missense 11/28 - 1
6-31930302-C-T c.1151C>T p.T384I Missense 11/28 - 1
6-31930304-G-T c.1153G>T p.G385W Missense 11/28 - 1
6-31930306-G-A c.1155G>A p.G385= Synonymous 11/28 - 1
6-31930306-G-C c.1155G>C p.G385= Synonymous 11/28 - 1
6-31930306-G-T c.1155G>T p.G385= Synonymous 11/28 - 1
6-31930307-G-T c.1156G>T p.D386Y Missense 11/28 - 2
6-31930319-GC-G c.1168del p.H390Ifs*9 Frameshift 11/28 - 1
6-31930322-C-T c.1171C>T p.P391S Missense 11/28 - 1
6-31930323-C-T c.1172C>T p.P391L Missense 11/28 - 1
6-31930324-G-A c.1173G>A p.P391= Synonymous 11/28 - 1
6-31930325-G-T c.1174G>T p.E392* Nonsense 11/28 - 1
6-31930337-C-T c.1186C>T p.L396F Missense 11/28 - 1
6-31930342-C-A c.1191C>A p.I397= Synonymous 11/28 - 2
6-31930342-C-T c.1191C>T p.I397= Synonymous 11/28 - 5
6-31930345-G-A c.1194G>A p.M398I Missense 11/28 - 1
6-31930345-G-C c.1194G>C p.M398I Missense 11/28 - 1
6-31930345-G-T c.1194G>T p.M398I Missense 11/28 - 1
6-31930351-A-C c.1200A>C p.T400= Synonymous 11/28 - 1
6-31930351-A-G c.1200A>G p.T400= Synonymous 11/28 - 11
6-31930351-A-T c.1200A>T p.T400= Synonymous 11/28 - 1
6-31930352-G-A c.1201G>A p.E401K Missense 11/28 - 2
6-31930353-A-T c.1202A>T p.E401V Missense 11/28 - 1
6-31930354-AG-A c.1203del p.I402Sfs*52 Frameshift 11/28 - 1
6-31930357-C-T c.1206C>T p.I402= Synonymous 11/28 - 4
6-31930362-G-A c.1211G>A p.R404H Missense 11/28 - 2
6-31930387-G-A c.1211+25G>A - IntronicSNV - 11/27 1
6-31930441-G-A c.1212-50G>A - IntronicSNV - 11/27 19
6-31930441-G-C c.1212-50G>C - IntronicSNV - 11/27 19
6-31930441-G-T c.1212-50G>T - IntronicSNV - 11/27 19
6-31930462-G-A c.1212-29G>A - IntronicSNV - 11/27 61
6-31930493-C-T c.1214C>T p.S405F Missense 12/28 - 3
6-31930495-A-G c.1216A>G p.M406V Missense 12/28 - 1
6-31930495-A-T c.1216A>T p.M406L Missense 12/28 - 1
6-31930498-C-A c.1219C>A p.L407M Missense 12/28 - 1
6-31930499-T-C c.1220T>C p.L407P Missense 12/28 - 1
6-31930502-A-G c.1223A>G p.Y408C Missense 12/28 - 1
6-31930508-G-A c.1229G>A p.G410D Missense 12/28 - 1
6-31930513-G-C c.1234G>C p.D412H Missense 12/28 - 1
6-31930533-G-A c.1254G>A p.E418= Synonymous 12/28 - 3
6-31930538-T-G c.1259T>G p.V420G Missense 12/28 - 2
6-31930542-C-A c.1263C>A p.I421= Synonymous 12/28 - 2
6-31930542-C-T c.1263C>T p.I421= Synonymous 12/28 - 4
6-31930543-T-G c.1264T>G p.F422V Missense 12/28 - 1
6-31930550-A-G c.1271A>G p.E424G Missense 12/28 - 1
6-31930556-A-T c.1277A>T p.H426L Missense 12/28 - 1
6-31930558-T-C c.1279T>C p.Y427H Missense 12/28 - 1
6-31930565-A-G c.1286A>G p.N429S Missense 12/28 - 1
6-31930566-C-T c.1287C>T p.N429= Synonymous 12/28 - 1
6-31930567-G-A c.1288G>A p.D430N Missense 12/28 - 3
6-31930572-C-A c.1293C>A p.V431= Synonymous 12/28 - 1
6-31930573-G-A c.1294G>A p.E432K Missense 12/28 - 1
6-31930762-C-T c.1297C>T p.R433C Missense 13/28 - 6
6-31930764-TGG-T c.1302_1303del p.V435Rfs*11 Frameshift 13/28 - 1
6-31930769-T-TC c.1305dup p.V436Rfs*11 Frameshift 13/28 - 1
6-31930771-G-A c.1306G>A p.V436M Missense 13/28 - 1
6-31930777-G-A c.1312G>A p.E438K Missense 13/28 - 2
6-31930777-G-T c.1312G>T p.E438* Nonsense 13/28 - 1
6-31930787-T-G c.1322T>G p.L441R Missense 13/28 - 1
6-31930791-C-A c.1326C>A p.I442= Synonymous 13/28 - 2
6-31930791-C-T c.1326C>T p.I442= Synonymous 13/28 - 3
6-31930792-A-C c.1327A>C p.M443L Missense 13/28 - 1
6-31930792-A-G c.1327A>G p.M443V Missense 13/28 - 1
6-31930795-C-T c.1330C>T p.L444= Synonymous 13/28 - 1
6-31930804-C-T c.1339C>T p.H447Y Missense 13/28 - 1
6-31930806-C-T c.1341C>T p.H447= Synonymous 13/28 - 2
6-31930807-G-A c.1342G>A p.V448I Missense 13/28 - 1
6-31930813-A-G c.1348A>G p.I450V Missense 13/28 - 2
6-31930815-C-A c.1350C>A p.I450= Synonymous 13/28 - 1
6-31930819-C-T c.1354C>T p.L452F Missense 13/28 - 1
6-31930822-C-T c.1357C>T p.L453= Synonymous 13/28 - 2
6-31930824-G-A c.1359G>A p.L453= Synonymous 13/28 - 2
6-31930824-G-C c.1359G>C p.L453= Synonymous 13/28 - 2
6-31930824-G-T c.1359G>T p.L453= Synonymous 13/28 - 2
6-31930826-G-A c.1361G>A p.S454N Missense 13/28 - 1
6-31930829-C-T c.1364C>T p.A455V Missense 13/28 - 2
6-31930832-C-A c.1367C>A p.T456N Missense 13/28 - 1
6-31930833-C-A c.1368C>A p.T456= Synonymous 13/28 - 3
6-31930833-C-G c.1368C>G p.T456= Synonymous 13/28 - 2
6-31930833-C-T c.1368C>T p.T456= Synonymous 13/28 - 3
6-31930834-G-A c.1369G>A p.V457I Missense 13/28 - 2
6-31930837-C-G c.1372C>G p.P458A Missense 13/28 - 1
6-31930837-C-T c.1372C>T p.P458S Missense 13/28 - 1
6-31930841-A-G c.1376A>G p.N459S Missense 13/28 - 2
6-31930842-C-G c.1377C>G p.N459K Missense 13/28 - 1
6-31930842-C-T c.1377C>T p.N459= Synonymous 13/28 - 1
6-31930843-G-A c.1378G>A p.A460T Missense 13/28 - 1
6-31930844-C-G c.1379C>G p.A460G Missense 13/28 - 1
6-31930846-C-T c.1381C>T p.L461F Missense 13/28 - 5
6-31930850-A-G c.1385A>G p.E462G Missense 13/28 - 1
6-31930856-C-T c.1391C>T p.A464V Missense 13/28 - 1
6-31930860-C-A c.1395C>A p.D465E Missense 13/28 - 1
6-31930860-C-G c.1395C>G p.D465E Missense 13/28 - 2
6-31930861-T-G c.1396T>G p.W466G Missense 13/28 - 2
6-31930864-A-C c.1399A>C p.I467L Missense 13/28 - 2
6-31931137-T-C c.1404-53T>C - IntronicSNV - 13/27 4
6-31931191-C-T c.1405C>T p.R469W Missense 14/28 - 1
6-31931192-G-A c.1406G>A p.R469Q Missense 14/28 - 1
6-31931192-G-T c.1406G>T p.R469L Missense 14/28 - 1
6-31931194-CTG-ATC c.1408_1410delinsATC p.L470I Missense 14/28 - 1
6-31931194-C-T c.1408C>T p.L470= Synonymous 14/28 - 1
6-31931196-G-A c.1410G>A p.L470= Synonymous 14/28 - 1
6-31931196-G-C c.1410G>C p.L470= Synonymous 14/28 - 1
6-31931196-G-T c.1410G>T p.L470= Synonymous 14/28 - 1
6-31931201-GT-AA c.1415_1416delinsAA p.R472Q Missense 14/28 - 1
6-31931203-C-T c.1417C>T p.R473C Missense 14/28 - 2
6-31931204-GT-AA c.1418_1419delinsAA p.R473Q Missense 14/28 - 1
6-31931206-C-T c.1420C>T p.Q474* Nonsense 14/28 - 4
6-31931213-TA-T c.1427del p.Y476Lfs*2 Frameshift 14/28 - 1
6-31931218-AT-A c.1434del p.S479Afs*3 Frameshift 14/28 - 3
6-31931221-TA-T c.1435del p.S479Afs*3 Frameshift 14/28 - 1
6-31931231-C-T c.1445C>T p.T482I Missense 14/28 - 2
6-31931233-CGC-TGG c.1447_1449delinsTGG p.R483W Missense 14/28 - 1
6-31931233-C-T c.1447C>T p.R483C Missense 14/28 - 7
6-31931234-G-A c.1448G>A p.R483H Missense 14/28 - 3
6-31931234-GC-AA c.1448_1449delinsAA p.R483Q Missense 14/28 - 1
6-31931234-GC-G c.1452del p.V485Cfs*45 Frameshift 14/28 - 2
6-31931238-C-A c.1452C>A p.P484= Synonymous 14/28 - 2
6-31931238-C-G c.1452C>G p.P484= Synonymous 14/28 - 2
6-31931238-C-T c.1452C>T p.P484= Synonymous 14/28 - 2
6-31931240-T-C c.1454T>C p.V485A Missense 14/28 - 3
6-31931243-C-T c.1457C>T p.P486L Missense 14/28 - 2
6-31931244-C-T c.1458C>T p.P486= Synonymous 14/28 - 1
6-31931246-T-C c.1460T>C p.L487P Missense 14/28 - 1
6-31931245-C-T c.1459C>T p.L487= Synonymous 14/28 - 1
6-31931247-G-A c.1461G>A p.L487= Synonymous 14/28 - 1
6-31931247-G-C c.1461G>C p.L487= Synonymous 14/28 - 1
6-31931247-G-T c.1461G>T p.L487= Synonymous 14/28 - 1
6-31931248-G-C c.1462G>C p.E488Q Missense 14/28 - 1
6-31931251-C-T c.1465C>T p.H489Y Missense 14/28 - 1
6-31931257-C-A c.1471C>A p.L491I Missense 14/28 - 1
6-31931263-A-G c.1477A>G p.T493A Missense 14/28 - 1
6-31931264-CA-TG c.1478_1479inv p.T493M Missense 14/28 - 1
6-31931266-GGG-TGT c.1480_1482delinsTGT p.G494C Missense 14/28 - 1
6-31931267-GGGA-G c.1481_1483del p.G494_N495delinsD MultiAAMissense 14/28 - 1
6-31931278-A-G c.1492A>G p.K498E Missense 14/28 - 3
6-31931280-G-C c.1494G>C p.K498N Missense 14/28 - 1
6-31931281-A-T c.1495A>T p.T499S Missense 14/28 - 1
6-31931282-C-G c.1496C>G p.T499S Missense 14/28 - 1
6-31931287-G-A c.1501G>A p.G501R Missense 14/28 - 1
6-31931290-G-C c.1504G>C p.E502Q Missense 14/28 - 1
6-31931292-G-A c.1506G>A p.E502= Synonymous 14/28 - 1
6-31931310-C-A c.1524C>A p.D508E Missense 14/28 - 1
6-31931310-C-G c.1524C>G p.D508E Missense 14/28 - 1
6-31931310-C-T c.1524C>T p.D508= Synonymous 14/28 - 2
6-31931313-CC-TT c.1527_1528delinsTT p.R510* Missense 14/28 - 1
6-31931314-C-A c.1528C>A p.R510= Synonymous 14/28 - 2
6-31931314-CGA-TGG c.1528_1530delinsTGG p.R510W Missense 14/28 - 1
6-31931314-C-T c.1528C>T p.R510* Nonsense 14/28 - 5
6-31931315-G-A c.1529G>A p.R510Q Missense 14/28 - 2
6-31931317-G-A c.1531G>A p.G511R Missense 14/28 - 2
6-31931317-G-C c.1531G>C p.G511R Missense 14/28 - 1
6-31931323-T-G c.1537T>G p.F513V Missense 14/28 - 1
6-31931325-C-T c.1539C>T p.F513= Synonymous 14/28 - 2
6-31931326-C-T c.1540C>T p.H514Y Missense 14/28 - 2
6-31931334-A-C c.1548A>C p.K516N Missense 14/28 - 2
6-31931334-A-G c.1548A>G p.K516= Synonymous 14/28 - 2
6-31931415-T-C c.1552T>C p.Y518H Missense 15/28 - 2
6-31931422-C-G c.1559C>G p.A520G Missense 15/28 - 1
6-31931425-C-G c.1562C>G p.A521G Missense 15/28 - 1
6-31931431-A-G c.1568A>G p.E523G Missense 15/28 - 2
6-31931433-G-A c.1570G>A p.A524T Missense 15/28 - 1
6-31931438-G-A c.1575G>A p.K525= Synonymous 15/28 - 1
6-31931440-A-C c.1577A>C p.K526T Missense 15/28 - 1
6-31931444-G-T c.1581G>T p.E527D Missense 15/28 - 1
6-31931454-A-G c.1591A>G p.K531E Missense 15/28 - 2
6-31931460-G-A c.1597G>A p.A533T Missense 15/28 - 1
6-31931461-C-T c.1598C>T p.A533V Missense 15/28 - 1
6-31931467-C-T c.1604C>T p.T535I Missense 15/28 - 1
6-31931476-C-G c.1613C>G p.A538G Missense 15/28 - 1
6-31931476-C-T c.1613C>T p.A538V Missense 15/28 - 1
6-31931484-C-T c.1621C>T p.P541S Missense 15/28 - 1
6-31931487-A-G c.1624A>G p.T542A Missense 15/28 - 2
6-31931488-C-T c.1625C>T p.T542I Missense 15/28 - 1
6-31931492-T-C c.1629T>C p.H543= Synonymous 15/28 - 1
6-31931494-A-G c.1631A>G p.Q544R Missense 15/28 - 1
6-31931495-G-A c.1632G>A p.Q544= Synonymous 15/28 - 1
6-31931495-G-C c.1632G>C p.Q544H Missense 15/28 - 1
6-31931495-G-T c.1632G>T p.Q544H Missense 15/28 - 2
6-31931497-G-A c.1634G>A p.G545E Missense 15/28 - 1
6-31931498-G-GA c.1635_1636insA p.G546Rfs*35 Frameshift 15/28 - 3
6-31931499-G-C c.1636G>C p.G546R Missense 15/28 - 2
6-31931501-C-T c.1638C>T p.G546= Synonymous 15/28 - 1
6-31931505-G-T c.1642G>T p.A548S Missense 15/28 - 1
6-31931506-C-T c.1643C>T p.A548V Missense 15/28 - 1
6-31931511-G-A c.1647+1G>A - IntronicSNV - 15/27 2
6-31931561-CT-C c.1647+59del - IntronicDeletion - 15/27 3
6-31931693-C-A c.1651C>A p.R551S Missense 16/28 - 1
6-31931694-G-A c.1652G>A p.R551H Missense 16/28 - 1
6-31931696-G-A c.1654G>A p.G552R Missense 16/28 - 1
6-31931696-G-T c.1654G>T p.G552* Nonsense 16/28 - 1
6-31931705-C-T c.1663C>T p.L555= Synonymous 16/28 - 1
6-31931707-G-A c.1665G>A p.L555= Synonymous 16/28 - 1
6-31931707-G-C c.1665G>C p.L555= Synonymous 16/28 - 1
6-31931707-G-T c.1665G>T p.L555= Synonymous 16/28 - 1
6-31931709-C-T c.1667C>T p.S556F Missense 16/28 - 3
6-31931711-C-G c.1669C>G p.L557V Missense 16/28 - 1
6-31931719-C-G c.1677C>G p.A559= Synonymous 16/28 - 1
6-31931723-C-T c.1681C>T p.L561F Missense 16/28 - 1
6-31931724-T-C c.1682T>C p.L561P Missense 16/28 - 1
6-31931727-G-A c.1685G>A p.R562H Missense 16/28 - 3
6-31931727-G-T c.1685G>T p.R562L Missense 16/28 - 1
6-31931729-A-C c.1687A>C p.T563P Missense 16/28 - 1
6-31931732-C-G c.1690C>G p.R564G Missense 16/28 - 2
6-31931732-C-T c.1690C>T p.R564C Missense 16/28 - 2
6-31931733-G-A c.1691G>A p.R564H Missense 16/28 - 1
6-31931733-G-C c.1691G>C p.R564P Missense 16/28 - 1
6-31931736-C-T c.1694C>T p.A565V Missense 16/28 - 1
6-31931741-T-G c.1699T>G p.L567V Missense 16/28 - 1
6-31931741-TTG-CAT c.1699_1701delinsCAT p.L567H Missense 16/28 - 1
6-31931743-G-C c.1701G>C p.L567F Missense 16/28 - 1
6-31931745-C-T c.1703C>T p.P568L Missense 16/28 - 1
6-31931747-G-A c.1705G>A p.V569M Missense 16/28 - 10
6-31931747-G-C c.1705G>C p.V569L Missense 16/28 - 2
6-31931747-G-T c.1705G>T p.V569L Missense 16/28 - 1
6-31931748-T-C c.1706T>C p.V569A Missense 16/28 - 2
6-31931755-G-A c.1713G>A p.V571= Synonymous 16/28 - 1
6-31931756-T-C c.1714T>C p.F572L Missense 16/28 - 3
6-31931756-T-G c.1714T>G p.F572V Missense 16/28 - 1
6-31931758-C-A c.1716C>A p.F572L Missense 16/28 - 2
6-31931758-C-G c.1716C>G p.F572L Missense 16/28 - 2
6-31931758-C-T c.1716C>T p.F572= Synonymous 16/28 - 3
6-31931768-C-T c.1726C>T p.R576W Missense 16/28 - 2
6-31931769-G-A c.1727G>A p.R576Q Missense 16/28 - 2
6-31931769-G-T c.1727G>T p.R576L Missense 16/28 - 2
6-31931774-C-A c.1732C>A p.R578S Missense 16/28 - 1
6-31931774-C-T c.1732C>T p.R578C Missense 16/28 - 2
6-31931775-G-A c.1733G>A p.R578H Missense 16/28 - 1
6-31931784-A-C c.1742A>C p.E581A Missense 16/28 - 1
6-31931788-G-A c.1746G>A p.Q582= Synonymous 16/28 - 1
6-31931789-G-A c.1747G>A p.A583T Missense 16/28 - 1
6-31931790-C-G c.1748C>G p.A583G Missense 16/28 - 1
6-31931791-C-G c.1749C>G p.A583= Synonymous 16/28 - 1
6-31931792-T-C c.1750T>C p.S584P Missense 16/28 - 1
6-31931792-T-G c.1750T>G p.S584A Missense 16/28 - 4
6-31931793-C-A c.1751C>A p.S584* Nonsense 16/28 - 1
6-31931793-C-T c.1751C>T p.S584L Missense 16/28 - 2
6-31931805-C-T c.1763C>T p.S588F Missense 16/28 - 1
6-31931813-C-G c.1771C>G p.L591V Missense 16/28 - 1
6-31931823-G-C c.1781G>C p.S594T Missense 16/28 - 1
6-31931826-C-T c.1784C>T p.S595L Missense 16/28 - 5
6-31931828-G-A c.1786G>A p.E596K Missense 16/28 - 2
6-31931829-A-G c.1787A>G p.E596G Missense 16/28 - 1
6-31931836-C-G c.1794C>G p.S598R Missense 16/28 - 1
6-31931836-C-T c.1794C>T p.S598= Synonymous 16/28 - 2
6-31931837-G-A c.1795G>A p.E599K Missense 16/28 - 1
6-31931840-A-G c.1798A>G p.I600V Missense 16/28 - 1
6-31931841-T-C c.1799T>C p.I600T Missense 16/28 - 1
6-31931842-C-G c.1800C>G p.I600M Missense 16/28 - 1
6-31931850-T-C c.1808T>C p.F603S Missense 16/28 - 1
6-31931853-T-C c.1811T>C p.L604P Missense 16/28 - 1
6-31931855-C-T c.1813C>T p.Q605* Nonsense 16/28 - 1
6-31931856-A-G c.1814A>G p.Q605R Missense 16/28 - 1
6-31931858-C-T c.1816C>T p.R606C Missense 16/28 - 6
6-31931859-G-A c.1817G>A p.R606H Missense 16/28 - 2
6-31931861-TG-GC c.1819_1820delinsGC p.C607A Missense 16/28 - 1
6-31931862-G-A c.1820G>A p.C607Y Missense 16/28 - 1
6-31931864-C-T c.1822C>T p.L608F Missense 16/28 - 1
6-31931867-G-A c.1825G>A p.A609T Missense 16/28 - 1
6-31931868-C-T c.1826C>T p.A609V Missense 16/28 - 1
6-31931870-C-T c.1828C>T p.R610C Missense 16/28 - 1
6-31931873-C-A c.1831C>A p.L611I Missense 16/28 - 1
6-31931875-C-A c.1833C>A p.L611= Synonymous 16/28 - 2
6-31931875-C-G c.1833C>G p.L611= Synonymous 16/28 - 2
6-31931875-C-T c.1833C>T p.L611= Synonymous 16/28 - 3
6-31931876-C-T c.1834C>T p.R612C Missense 16/28 - 3
6-31931877-G-A c.1835G>A p.R612H Missense 16/28 - 2
6-31931879-G-A c.1837G>A p.G613S Missense 16/28 - 1
6-31931880-G-A c.1838G>A p.G613D Missense 16/28 - 2
6-31931885-G-A c.1843G>A p.D615N Missense 16/28 - 1
6-31931886-GACC-G c.1844_1846del p.D615_R616delinsG MultiAAMissense 16/28 - 1
6-31931887-C-G c.1845C>G p.D615E Missense 16/28 - 1
6-31931889-G-A c.1847G>A p.R616H Missense 16/28 - 3
6-31931896-G-A c.1854G>A p.L618= Synonymous 16/28 - 1
6-31931896-G-GC c.1858dup p.Q620Pfs*18 SpliceDonorInsertion 16/28 - 1
6-31931909-C-T c.1860+7C>T - IntronicSNV - 16/27 1
6-31931902-GGTGCGTCTGT-G c.1860+17_1860+26del - SpliceDonorDeletion - 16/27 1
6-31931927-G-A c.1860+25G>A - IntronicSNV - 16/27 1
6-31931932-T-C c.1860+30T>C - IntronicSNV - 16/27 1
6-31931955-G-A c.1860+53G>A - IntronicSNV - 16/27 1
6-31932009-G-C c.1861G>C p.V621L Missense 17/28 - 1
6-31932010-T-C c.1862T>C p.V621A Missense 17/28 - 1
6-31932012-CTG-TTT c.1864_1866delinsTTT p.L622F Missense 17/28 - 1
6-31932019-T-C c.1871T>C p.M624T Missense 17/28 - 3
6-31932021-T-A c.1873T>A p.S625T Missense 17/28 - 3
6-31932021-T-C c.1873T>C p.S625P Missense 17/28 - 6
6-31932024-G-A c.1876G>A p.E626K Missense 17/28 - 2
6-31932029-C-T c.1881C>T p.L627= Synonymous 17/28 - 1
6-31932030-C-T c.1882C>T p.L628= Synonymous 17/28 - 3
6-31932030-CTG-ATC c.1882_1884delinsATC p.L628I Missense 17/28 - 1
6-31932035-T-A c.1887T>A p.N629K Missense 17/28 - 1
6-31932035-T-G c.1887T>G p.N629K Missense 17/28 - 1
6-31932037-G-A c.1889G>A p.R630H Missense 17/28 - 1
6-31932038-C-T c.1890C>T p.R630= Synonymous 17/28 - 1
6-31932039-G-A c.1891G>A p.G631S Missense 17/28 - 8
6-31932039-G-T c.1891G>T p.G631C Missense 17/28 - 1
6-31932040-G-C c.1892G>C p.G631A Missense 17/28 - 2
6-31932041-C-A c.1893C>A p.G631= Synonymous 17/28 - 1
6-31932041-C-G c.1893C>G p.G631= Synonymous 17/28 - 1
6-31932041-C-T c.1893C>T p.G631= Synonymous 17/28 - 1
6-31932042-C-T c.1894C>T p.L632= Synonymous 17/28 - 1
6-31932046-G-T c.1898G>T p.G633V Missense 17/28 - 1
6-31932055-A-G c.1907A>G p.H636R Missense 17/28 - 1
6-31932058-G-A c.1910G>A p.S637N Missense 17/28 - 1
6-31932060-G-A c.1912G>A p.G638S Missense 17/28 - 2
6-31932060-G-C c.1912G>C p.G638R Missense 17/28 - 1
6-31932066-C-T c.1918C>T p.L640= Synonymous 17/28 - 1
6-31932068-G-A c.1920G>A p.L640= Synonymous 17/28 - 2
6-31932068-G-C c.1920G>C p.L640= Synonymous 17/28 - 1
6-31932068-G-T c.1920G>T p.L640= Synonymous 17/28 - 1
6-31932070-C-T c.1922C>T p.P641L Missense 17/28 - 1
6-31932074-C-T c.1926C>T p.I642= Synonymous 17/28 - 1
6-31932075-C-T c.1927C>T p.L643F Missense 17/28 - 1
6-31932077-C-A c.1929C>A p.L643= Synonymous 17/28 - 2
6-31932077-C-G c.1929C>G p.L643= Synonymous 17/28 - 2
6-31932077-C-T c.1929C>T p.L643= Synonymous 17/28 - 2
6-31932086-C-A c.1938C>A p.I646= Synonymous 17/28 - 1
6-31932086-C-T c.1938C>T p.I646= Synonymous 17/28 - 4
6-31932087-G-A c.1939G>A p.V647M Missense 17/28 - 2
6-31932090-G-A c.1942G>A p.E648K Missense 17/28 - 1
6-31932101-C-T c.1953C>T p.F651= Synonymous 17/28 - 3
6-31932104-C-T c.1956C>T p.S652= Synonymous 17/28 - 2
6-31932105-C-T c.1957C>T p.R653C Missense 17/28 - 2
6-31932106-G-A c.1958G>A p.R653H Missense 17/28 - 1
6-31932177-C-T c.1971+58C>T - IntronicSNV - 17/27 9
6-31932368-G-A c.1971+249G>A - IntronicSNV - 17/27 1
6-31932368-G-C c.1971+249G>C - IntronicSNV - 17/27 1
6-31932508-G-A c.1971+389G>A - IntronicSNV - 17/27 1
6-31932766-G-A c.1971+647G>A - IntronicSNV - 17/27 1
6-31932766-G-T c.1971+647G>T - IntronicSNV - 17/27 1
6-31933161-G-A c.1972-399G>A - IntronicSNV - 17/27 9
6-31933518-T-C c.1972-42T>C - IntronicSNV - 17/27 9
6-31933575-G-A c.1987G>A p.E663K Missense 18/28 - 1
6-31933577-G-A c.1989G>A p.E663= Synonymous 18/28 - 1
6-31933578-A-G c.1990A>G p.T664A Missense 18/28 - 2
6-31933582-T-C c.1994T>C p.F665S Missense 18/28 - 1
6-31933584-G-A c.1996G>A p.A666T Missense 18/28 - 1
6-31933584-G-T c.1996G>T p.A666S Missense 18/28 - 1
6-31933590-G-A c.2002G>A p.G668R Missense 18/28 - 1
6-31933590-G-T c.2002G>T p.G668* Nonsense 18/28 - 1
6-31933591-G-A c.2003G>A p.G668E Missense 18/28 - 1
6-31933593-G-A c.2005G>A p.V669I Missense 18/28 - 1
6-31933593-G-C c.2005G>C p.V669L Missense 18/28 - 1
6-31933593-G-T c.2005G>T p.V669L Missense 18/28 - 1
6-31933595-A-C c.2007A>C p.V669= Synonymous 18/28 - 1
6-31933595-A-G c.2007A>G p.V669= Synonymous 18/28 - 1
6-31933595-A-T c.2007A>T p.V669= Synonymous 18/28 - 1
6-31933599-A-G c.2011A>G p.M671V Missense 18/28 - 1
6-31933608-C-A c.2020C>A p.R674S Missense 18/28 - 1
6-31933608-C-G c.2020C>G p.R674G Missense 18/28 - 2
6-31933609-G-A c.2021G>A p.R674H Missense 18/28 - 1
6-31933611-A-T c.2023A>T p.T675S Missense 18/28 - 1
6-31933619-G-GTT c.2033_2034dup p.D679Lfs*55 Frameshift 18/28 - 1
6-31933619-G-GT c.2034dup p.D679* Nonsense 18/28 - 1
6-31933623-G-A c.2035G>A p.D679N Missense 18/28 - 2
6-31933627-C-G c.2039C>G p.S680C Missense 18/28 - 2
6-31933632-C-T c.2044C>T p.R682C Missense 18/28 - 1
6-31933633-G-A c.2045G>A p.R682H Missense 18/28 - 2
6-31933639-A-T c.2051A>T p.H684L Missense 18/28 - 1
6-31933640-C-T c.2052C>T p.H684= Synonymous 18/28 - 7
6-31933641-G-A c.2053G>A p.D685N Missense 18/28 - 2
6-31933647-T-C c.2059T>C p.S687P Missense 18/28 - 1
6-31933648-C-A c.2060C>A p.S687Y Missense 18/28 - 1
6-31933648-C-T c.2060C>T p.S687F Missense 18/28 - 2
6-31933652-C-T c.2064C>T p.T688= Synonymous 18/28 - 3
6-31933655-C-T c.2067C>T p.F689= Synonymous 18/28 - 1
6-31933656-CGG-TGT c.2068_2070delinsTGT p.R690C Missense 18/28 - 1
6-31933656-C-T c.2068C>T p.R690W Missense 18/28 - 1
6-31933657-G-A c.2069G>A p.R690Q Missense 18/28 - 1
6-31933659-G-A c.2071G>A p.D691N Missense 18/28 - 1
6-31933672-G-A c.2084G>A p.G695E Missense 18/28 - 1
6-31933673-G-A c.2085G>A p.G695= Synonymous 18/28 - 1
6-31933673-G-C c.2085G>C p.G695= Synonymous 18/28 - 1
6-31933673-G-T c.2085G>T p.G695= Synonymous 18/28 - 1
6-31933674-G-A c.2086G>A p.E696K Missense 18/28 - 1
6-31933678-A-G c.2090A>G p.Y697C Missense 18/28 - 1
6-31933689-G-A c.2101G>A p.A701T Missense 18/28 - 1
6-31933694-C-T c.2106C>T p.G702= Synonymous 18/28 - 1
6-31933695-C-T c.2107C>T p.R703W Missense 18/28 - 1
6-31933699-C-G c.2111C>G p.A704G Missense 18/28 - 1
6-31933701-G-T c.2113G>T p.G705W Missense 18/28 - 1
6-31933702-G-C c.2114G>C p.G705A Missense 18/28 - 1
6-31933705-G-A c.2117G>A p.R706Q Missense 18/28 - 1
6-31933709-G-A c.2121G>A p.R707= Synonymous 18/28 - 3
6-31933711-G-A c.2123G>A p.G708D Missense 18/28 - 1
6-31933714-T-A c.2126T>A p.L709Q Missense 18/28 - 1
6-31933717-A-C c.2129A>C p.D710A Missense 18/28 - 1
6-31933721-C-T c.2133C>T p.P711= Synonymous 18/28 - 3
6-31933725-G-T c.2137G>T p.G713C Missense 18/28 - 1
6-31933729-C-T c.2141C>T p.T714I Missense 18/28 - 1
6-31933730-C-A c.2142C>A p.T714= Synonymous 18/28 - 1
6-31933730-C-G c.2142C>G p.T714= Synonymous 18/28 - 1
6-31933730-C-T c.2142C>T p.T714= Synonymous 18/28 - 1
6-31933731-G-A c.2143G>A p.V715I Missense 18/28 - 1
6-31933737-C-A c.2149C>A p.L717M Missense 18/28 - 1
6-31933737-C-G c.2149C>G p.L717V Missense 18/28 - 1
6-31933742-C-G c.2154C>G p.L718= Synonymous 18/28 - 1
6-31933750-G-C c.2162G>C p.G721A Missense 18/28 - 1
6-31933752-C-T c.2164C>T p.R722* Nonsense 18/28 - 2
6-31933753-G-A c.2165G>A p.R722Q Missense 18/28 - 3
6-31933758-C-T c.2170C>T p.P724S Missense 18/28 - 1
6-31933760-C-A c.2172C>A p.P724= Synonymous 18/28 - 2
6-31933760-C-G c.2172C>G p.P724= Synonymous 18/28 - 1
6-31933760-C-T c.2172C>T p.P724= Synonymous 18/28 - 1
6-31933761-G-A c.2173G>A p.E725K Missense 18/28 - 1
6-31933768-C-G c.2180C>G p.A727G Missense 18/28 - 1
6-31933769-A-G c.2181A>G p.A727= Synonymous 18/28 - 1
6-31933774-T-C c.2186T>C p.L729P Missense 18/28 - 1
6-31933779-CG-AT c.2191_2192delinsAT p.R731I Missense 18/28 - 1
6-31933779-C-T c.2191C>T p.R731C Missense 18/28 - 1
6-31933780-G-A c.2192G>A p.R731H Missense 18/28 - 2
6-31933780-G-C c.2192G>C p.R731P Missense 18/28 - 1
6-31933782-A-G c.2194A>G p.M732V Missense 18/28 - 2
6-31933786-T-A c.2198T>A p.M733K Missense 18/28 - 1
6-31933977-A-C c.2202+187A>C - IntronicSNV - 18/27 1
6-31934372-C-T c.2203-114C>T - IntronicSNV - 18/27 5
6-31934485-G-A c.2203-1G>A - IntronicSNV - 18/27 1
6-31934485-G-C c.2203-1G>C - IntronicSNV - 18/27 1
6-31934487-G-A c.2204G>A p.G735E Missense 19/28 - 1
6-31934494-G-A c.2211G>A p.P737= Synonymous 19/28 - 4
6-31934494-G-C c.2211G>C p.P737= Synonymous 19/28 - 1
6-31934494-G-T c.2211G>T p.P737= Synonymous 19/28 - 1
6-31934496-C-T c.2213C>T p.S738F Missense 19/28 - 1
6-31934510-C-T c.2227C>T p.Q743* Nonsense 19/28 - 1
6-31934516-C-T c.2233C>T p.R745C Missense 19/28 - 4
6-31934517-GC-AA c.2234_2235delinsAA p.R745Q Missense 19/28 - 1
6-31934521-C-A c.2238C>A p.L746= Synonymous 19/28 - 1
6-31934521-C-G c.2238C>G p.L746= Synonymous 19/28 - 1
6-31934521-C-T c.2238C>T p.L746= Synonymous 19/28 - 2
6-31934523-C-A c.2240C>A p.T747K Missense 19/28 - 1
6-31934523-C-T c.2240C>T p.T747M Missense 19/28 - 4
6-31934524-G-A c.2241G>A p.T747= Synonymous 19/28 - 3
6-31934524-G-C c.2241G>C p.T747= Synonymous 19/28 - 1
6-31934524-G-T c.2241G>T p.T747= Synonymous 19/28 - 1
6-31934528-AC-TG c.2245_2246delinsTG p.T749C Missense 19/28 - 1
6-31934532-T-C c.2249T>C p.M750T Missense 19/28 - 1
6-31934540-A-T c.2257A>T p.N753Y Missense 19/28 - 3
6-31934543-T-C c.2260T>C p.L754= Synonymous 19/28 - 1
6-31934545-G-A c.2262G>A p.L754= Synonymous 19/28 - 1
6-31934549-C-T c.2266C>T p.R756* Nonsense 19/28 - 4
6-31934550-G-C c.2267G>C p.R756P Missense 19/28 - 3
6-31934556-A-G c.2273A>G p.D758G Missense 19/28 - 1
6-31934556-A-T c.2273A>T p.D758V Missense 19/28 - 2
6-31934560-C-T c.2277C>T p.A759= Synonymous 19/28 - 1
6-31934561-C-G c.2278C>G p.L760V Missense 19/28 - 1
6-31934566-G-A c.2283G>A p.R761= Synonymous 19/28 - 1
6-31934575-C-T c.2292C>T p.D764= Synonymous 19/28 - 1
6-31934576-A-G c.2293A>G p.M765V Missense 19/28 - 1
6-31934576-CA-C c.2293del p.M765* Frameshift 19/28 - 1
6-31934578-G-A c.2295G>A p.M765I Missense 19/28 - 2
6-31934578-G-C c.2295G>C p.M765I Missense 19/28 - 2
6-31934578-G-T c.2295G>T p.M765I Missense 19/28 - 2
6-31934580-T-A c.2297T>A p.M766K Missense 19/28 - 1
6-31934584-G-C c.2301G>C p.K767N Missense 19/28 - 1
6-31934584-G-T c.2301G>T p.K767N Missense 19/28 - 1
6-31934585-AGG-CAT c.2302_2304delinsCAT p.R768H Missense 19/28 - 1
6-31934586-G-A c.2303G>A p.R768K Missense 19/28 - 1
6-31934586-G-T c.2303G>T p.R768M Missense 19/28 - 1
6-31934589-G-A c.2306G>A p.S769N Missense 19/28 - 1
6-31934589-G-T c.2306G>T p.S769I Missense 19/28 - 3
6-31934597-G-A c.2314G>A p.E772K Missense 19/28 - 2
6-31934602-T-C c.2319T>C p.F773= Synonymous 19/28 - 1
6-31934604-C-T c.2321C>T p.P774L Missense 19/28 - 1
6-31934605-C-A c.2322C>A p.P774= Synonymous 19/28 - 1
6-31934605-C-G c.2322C>G p.P774= Synonymous 19/28 - 1
6-31934605-C-T c.2322C>T p.P774= Synonymous 19/28 - 1
6-31934608-C-T c.2325C>T p.S775= Synonymous 19/28 - 2
6-31934609-C-T c.2326C>T p.R776C Missense 19/28 - 2
6-31934610-G-GACTTCTGGGCTCAAGCAGTCTGTCTGCCTCAGCTT c.2327_2328insACTTCTGGGCTCAAGCAGTCTGTCTGCCTCAGCTT p.K777Lfs*25 Frameshift 19/28 - 1
6-31934610-G-T c.2327G>T p.R776L Missense 19/28 - 1
6-31934615-G-A c.2332G>A p.D778N Missense 19/28 - 1
6-31934615-G-C c.2332G>C p.D778H Missense 19/28 - 3
6-31934616-A-T c.2333A>T p.D778V Missense 19/28 - 1
6-31934616-GA-G c.2333del p.D778Afs*12 Frameshift 19/28 - 2
6-31934619-G-T c.2336G>T p.S779I Missense 19/28 - 1
6-31934621-A-G c.2338A>G p.K780E Missense 19/28 - 1
6-31934636-G-A c.2340+13G>A - IntronicSNV - 19/27 1
6-31934779-A-G c.2341-2A>G - IntronicSNV - 19/27 1
6-31934783-C-T c.2343C>T p.A781= Synonymous 20/28 - 1
6-31934787-G-A c.2347G>A p.E783K Missense 20/28 - 1
6-31934793-G-T c.2353G>T p.A785S Missense 20/28 - 1
6-31934795-C-A c.2355C>A p.A785= Synonymous 20/28 - 1
6-31934795-C-G c.2355C>G p.A785= Synonymous 20/28 - 1
6-31934795-C-T c.2355C>T p.A785= Synonymous 20/28 - 1
6-31934805-C-T c.2365C>T p.L789= Synonymous 20/28 - 2
6-31934807-G-A c.2367G>A p.L789= Synonymous 20/28 - 2
6-31934807-G-C c.2367G>C p.L789= Synonymous 20/28 - 2
6-31934807-G-T c.2367G>T p.L789= Synonymous 20/28 - 2
6-31934813-G-A c.2373G>A p.K791= Synonymous 20/28 - 1
6-31934831-G-A c.2391G>A p.E797= Synonymous 20/28 - 2
6-31934835-C-T c.2395C>T p.P799S Missense 20/28 - 1
6-31934837-T-A c.2397T>A p.P799= Synonymous 20/28 - 1
6-31934837-T-C c.2397T>C p.P799= Synonymous 20/28 - 2
6-31934837-T-G c.2397T>G p.P799= Synonymous 20/28 - 1
6-31934841-A-C c.2401A>C p.M801L Missense 20/28 - 1
6-31934841-A-G c.2401A>G p.M801V Missense 20/28 - 3
6-31934841-A-T c.2401A>T p.M801L Missense 20/28 - 1
6-31934847-G-A c.2407G>A p.G803S Missense 20/28 - 1
6-31934850-C-T c.2410C>T p.Q804* Nonsense 20/28 - 1
6-31934858-C-A c.2418C>A p.V806= Synonymous 20/28 - 1
6-31934858-C-G c.2418C>G p.V806= Synonymous 20/28 - 1
6-31934858-C-T c.2418C>T p.V806= Synonymous 20/28 - 1
6-31934865-C-G c.2425C>G p.P809A Missense 20/28 - 1
6-31934866-C-T c.2426C>T p.P809L Missense 20/28 - 1
6-31934872-A-C c.2432A>C p.Y811S Missense 20/28 - 1
6-31934878-G-C c.2438G>C p.S813T Missense 20/28 - 1
6-31934880-CTG-C c.2440_2441del p.W814Gfs*64 Frameshift 20/28 - 1
6-31934880-T-C c.2440T>C p.W814R Missense 20/28 - 1
6-31934881-G-A c.2441G>A p.W814* Nonsense 20/28 - 3
6-31934881-G-C c.2441G>C p.W814S Missense 20/28 - 2
6-31934881-G-T c.2441G>T p.W814L Missense 20/28 - 1
6-31934882-G-A c.2442G>A p.W814* Nonsense 20/28 - 4
6-31934882-G-C c.2442G>C p.W814C Missense 20/28 - 1
6-31934882-G-T c.2442G>T p.W814C Missense 20/28 - 1
6-31934880-TG-T c.2446del p.E816Rfs*3 Frameshift 20/28 - 4
6-31934886-G-A c.2446G>A p.E816K Missense 20/28 - 1
6-31934889-G-A c.2449G>A p.E817K Missense 20/28 - 1
6-31934889-G-C c.2449G>C p.E817Q Missense 20/28 - 1
6-31934892-C-G c.2452C>G p.L818V Missense 20/28 - 1
6-31934892-C-T c.2452C>T p.L818= Synonymous 20/28 - 1
6-31934894-G-A c.2454G>A p.L818= Synonymous 20/28 - 1
6-31934894-G-C c.2454G>C p.L818= Synonymous 20/28 - 1
6-31934894-G-T c.2454G>T p.L818= Synonymous 20/28 - 1
6-31934895-A-C c.2455A>C p.T819P Missense 20/28 - 1
6-31934904-C-G c.2464C>G p.Q822E Missense 20/28 - 1
6-31934908-CA-C c.2468del p.H823Pfs*2 Frameshift 20/28 - 1
6-31934915-C-T c.2475C>T p.I825= Synonymous 20/28 - 2
6-31934919-G-C c.2478+1G>C - IntronicSNV - 20/27 1
6-31934920-T-A c.2478+2T>A - IntronicSNV - 20/27 1
6-31935050-C-T c.2479C>T p.R827* Nonsense 21/28 - 2
6-31935051-G-A c.2480G>A p.R827Q Missense 21/28 - 1
6-31935053-C-T c.2482C>T p.R828C Missense 21/28 - 1
6-31935054-G-A c.2483G>A p.R828H Missense 21/28 - 6
6-31935066-CTG-C c.2498_2499del p.V833Efs*45 Frameshift 21/28 - 1
6-31935073-C-G c.2502C>G p.N834K Missense 21/28 - 1
6-31935073-C-T c.2502C>T p.N834= Synonymous 21/28 - 3
6-31935074-G-A c.2503G>A p.G835R Missense 21/28 - 3
6-31935074-G-C c.2503G>C p.G835R Missense 21/28 - 1
6-31935075-G-C c.2504G>C p.G835A Missense 21/28 - 1
6-31935083-T-C c.2512T>C p.S838P Missense 21/28 - 1
6-31935086-C-G c.2515C>G p.L839V Missense 21/28 - 1
6-31935090-C-A c.2519C>A p.S840* Nonsense 21/28 - 1
6-31935090-C-G c.2519C>G p.S840* Nonsense 21/28 - 1
6-31935092-G-A c.2521G>A p.A841T Missense 21/28 - 1
6-31935093-C-G c.2522C>G p.A841G Missense 21/28 - 1
6-31935095-GGA-TGG c.2524_2526delinsTGG p.G842W Missense 21/28 - 1
6-31935095-G-T c.2524G>T p.G842* Nonsense 21/28 - 1
6-31935096-G-T c.2525G>T p.G842V Missense 21/28 - 1
6-31935098-AG-TA c.2527_2528delinsTA p.R843* Nonsense 21/28 - 1
6-31935101-G-A c.2530G>A p.V844M Missense 21/28 - 1
6-31935122-G-A c.2551G>A p.E851K Missense 21/28 - 3
6-31935123-A-G c.2552A>G p.E851G Missense 21/28 - 1
6-31935124-G-T c.2553G>T p.E851D Missense 21/28 - 1
6-31935134-G-A c.2563G>A p.A855T Missense 21/28 - 3
6-31935135-C-A c.2564C>A p.A855E Missense 21/28 - 1
6-31935140-G-A c.2569G>A p.G857R Missense 21/28 - 1
6-31935143-AG-A c.2572del p.V858* Frameshift 21/28 - 3
6-31935145-G-A c.2574G>A p.V858= Synonymous 21/28 - 2
6-31935148-C-G c.2577C>G p.I859M Missense 21/28 - 1
6-31935153-A-T c.2582A>T p.Q861L Missense 21/28 - 2
6-31935276-C-T c.2583+122C>T - IntronicSNV - 21/27 1
6-31935284-CCT-C c.2583+134_2583+135del - IntronicDeletion - 21/27 1
6-31935311-C-T c.2583+157C>T - IntronicSNV - 21/27 5
6-31935499-C-T c.2591C>T p.S864L Missense 22/28 - 4
6-31935507-A-G c.2599A>G p.T867A Missense 22/28 - 1
6-31935508-C-G c.2600C>G p.T867S Missense 22/28 - 1
6-31935521-C-A c.2613C>A p.F871L Missense 22/28 - 1
6-31935526-C-T c.2618C>T p.T873I Missense 22/28 - 1
6-31935527-CC-AA c.2619_2620delinsAA p.L874M Missense 22/28 - 1
6-31935528-C-A c.2620C>A p.L874M Missense 22/28 - 1
6-31935536-G-T c.2628G>T p.L876F Missense 22/28 - 1
6-31935537-T-G c.2629T>G p.C877G Missense 22/28 - 1
6-31935537-TG-AC c.2629_2630delinsAC p.C877T Missense 22/28 - 1
6-31935538-G-A c.2630G>A p.C877Y Missense 22/28 - 1
6-31935554-C-T c.2646C>T p.S882= Synonymous 22/28 - 1
6-31935558-G-C c.2650G>C p.D884H Missense 22/28 - 1
6-31935558-G-T c.2650G>T p.D884Y Missense 22/28 - 5
6-31935567-G-A c.2659G>A p.D887N Missense 22/28 - 19
6-31935567-G-T c.2659G>T p.D887Y Missense 22/28 - 5
6-31935569-C-G c.2661C>G p.D887E Missense 22/28 - 1
6-31935569-C-T c.2661C>T p.D887= Synonymous 22/28 - 2
6-31935570-A-G c.2662A>G p.R888G Missense 22/28 - 1
6-31935570-CAG-C c.2662_2663del p.R888Gfs*12 Frameshift 22/28 - 6
6-31935572-G-A c.2664G>A p.R888= Synonymous 22/28 - 3
6-31935577-C-T c.2669C>T p.P890L Missense 22/28 - 2
6-31935579-G-A c.2671G>A p.A891T Missense 22/28 - 1
6-31935579-G-C c.2671G>C p.A891P Missense 22/28 - 1
6-31935579-GC-TG c.2671_2672delinsTG p.A891C Missense 22/28 - 1
6-31935579-G-T c.2671G>T p.A891S Missense 22/28 - 1
6-31935585-G-T c.2677G>T p.A893S Missense 22/28 - 1
6-31935588-G-C c.2680G>C p.E894Q Missense 22/28 - 1
6-31935600-C-T c.2692C>T p.P898S Missense 22/28 - 1
6-31935606-G-T c.2698G>T p.D900Y Missense 22/28 - 1
6-31935611-C-T c.2703C>T p.L901= Synonymous 22/28 - 5
6-31935627-T-C c.2719T>C p.F907L Missense 22/28 - 1
6-31935629-C-A c.2721C>A p.F907L Missense 22/28 - 1
6-31935629-C-G c.2721C>G p.F907L Missense 22/28 - 1
6-31935631-T-C c.2723T>C p.L908P Missense 22/28 - 2
6-31935738-TG-AC c.2737_2738delinsAC p.C913T Missense 23/28 - 1
6-31935749-C-T c.2748C>T p.T916= Synonymous 23/28 - 1
6-31935750-G-A c.2749G>A p.V917M Missense 23/28 - 12
6-31935753-GTC-ATG c.2752_2754delinsATG p.V918M Missense 23/28 - 1
6-31935755-C-A c.2754C>A p.V918= Synonymous 23/28 - 1
6-31935755-C-G c.2754C>G p.V918= Synonymous 23/28 - 1
6-31935755-C-T c.2754C>T p.V918= Synonymous 23/28 - 1
6-31935762-C-T c.2761C>T p.Q921* Nonsense 23/28 - 1
6-31935765-C-G c.2764C>G p.P922A Missense 23/28 - 1
6-31935766-C-T c.2765C>T p.P922L Missense 23/28 - 1
6-31935772-A-G c.2771A>G p.D924G Missense 23/28 - 2
6-31935774-A-G c.2773A>G p.M925V Missense 23/28 - 1
6-31935780-G-A c.2779G>A p.A927T Missense 23/28 - 1
6-31935791-C-T c.2790C>T p.T930= Synonymous 23/28 - 3
6-31935801-C-T c.2800C>T p.R934W Missense 23/28 - 1
6-31935802-G-A c.2801G>A p.R934Q Missense 23/28 - 1
6-31935802-G-C c.2801G>C p.R934P Missense 23/28 - 1
6-31935813-G-T c.2812G>T p.E938* Nonsense 23/28 - 1
6-31935815-G-GT c.2814_2815insT p.K939* Nonsense 23/28 - 1
6-31935816-A-C c.2815A>C p.K939Q Missense 23/28 - 1
6-31935813-GAGA-G c.2816_2818del p.K939del InFrameDeletion 23/28 - 1
6-31935823-T-C c.2822T>C p.L941S Missense 23/28 - 1
6-31935824-G-T c.2823G>T p.L941F Missense 23/28 - 1
6-31935833-C-A c.2832C>A p.F944L Missense 23/28 - 1
6-31935832-T-C c.2831T>C p.F944S Missense 23/28 - 1
6-31935835-G-T c.2834G>T p.S945I Missense 23/28 - 1
6-31935836-C-T c.2835C>T p.S945= Synonymous 23/28 - 1
6-31935842-G-GC c.2842dup p.Q948Pfs*40 Frameshift 23/28 - 1
6-31935845-G-A c.2844G>A p.Q948= Synonymous 23/28 - 2
6-31935848-G-A c.2847G>A p.Q949= Synonymous 23/28 - 1
6-31935848-G-C c.2847G>C p.Q949H Missense 23/28 - 1
6-31935859-A-G c.2858A>G p.K953R Missense 23/28 - 1
6-31935928-G-A c.2858+69G>A - IntronicSNV - 23/27 1
6-31935928-G-C c.2858+69G>C - IntronicSNV - 23/27 2
6-31936057-G-T c.2859-48G>T - IntronicSNV - 23/27 2
6-31936112-C-T c.2866C>T p.P956S Missense 24/28 - 1
6-31936116-C-T c.2870C>T p.P957L Missense 24/28 - 1
6-31936114-TC-T c.2872del p.A959Qfs*3 Frameshift 24/28 - 1
6-31936122-C-T c.2876C>T p.A959V Missense 24/28 - 1
6-31936124-G-T c.2878G>T p.A960S Missense 24/28 - 1
6-31936126-C-A c.2880C>A p.A960= Synonymous 24/28 - 1
6-31936126-C-G c.2880C>G p.A960= Synonymous 24/28 - 1
6-31936126-C-T c.2880C>T p.A960= Synonymous 24/28 - 2
6-31936127-G-T c.2881G>T p.V961L Missense 24/28 - 1
6-31936130-AC-TG c.2884_2885delinsTG p.T962C Missense 24/28 - 1
6-31936132-C-A c.2886C>A p.T962= Synonymous 24/28 - 1
6-31936132-C-G c.2886C>G p.T962= Synonymous 24/28 - 1
6-31936132-C-T c.2886C>T p.T962= Synonymous 24/28 - 1
6-31936134-C-T c.2888C>T p.T963I Missense 24/28 - 1
6-31936155-G-A c.2909G>A p.R970H Missense 24/28 - 3
6-31936158-T-C c.2912T>C p.L971P Missense 24/28 - 2
6-31936158-T-G c.2912T>G p.L971R Missense 24/28 - 1
6-31936161-C-T c.2915C>T p.A972V Missense 24/28 - 1
6-31936166-G-C c.2920G>C p.A974P Missense 24/28 - 1
6-31936177-C-A c.2931C>A p.A977= Synonymous 24/28 - 1
6-31936177-C-G c.2931C>G p.A977= Synonymous 24/28 - 1
6-31936177-C-T c.2931C>T p.A977= Synonymous 24/28 - 1
6-31936178-G-A c.2932G>A p.G978R Missense 24/28 - 3
6-31936178-G-C c.2932G>C p.G978R Missense 24/28 - 1
6-31936185-C-A c.2939C>A p.P980H Missense 24/28 - 1
6-31936192-C-T c.2946C>T p.L982= Synonymous 24/28 - 2
6-31936193-G-A c.2947G>A p.D983N Missense 24/28 - 1
6-31936199-G-A c.2953G>A p.V985I Missense 24/28 - 1
6-31936203-A-G c.2957A>G p.N986S Missense 24/28 - 3
6-31936205-G-C c.2959G>C p.D987H Missense 24/28 - 1
6-31936217-A-C c.2971A>C p.K991Q Missense 24/28 - 1
6-31936219-A-G c.2973A>G p.K991= Synonymous 24/28 - 1
6-31936220-G-T c.2974G>T p.D992Y Missense 24/28 - 1
6-31936244-C-G c.2998C>G p.L1000V Missense 24/28 - 1
6-31936245-T-A c.2999T>A p.L1000H Missense 24/28 - 1
6-31936246-C-A c.3000C>A p.L1000= Synonymous 24/28 - 1
6-31936246-C-G c.3000C>G p.L1000= Synonymous 24/28 - 1
6-31936246-C-T c.3000C>T p.L1000= Synonymous 24/28 - 1
6-31936247-C-T c.3001C>T p.R1001W Missense 24/28 - 2
6-31936253-C-A c.3007C>A p.R1003= Synonymous 24/28 - 1
6-31936255-G-A c.3009G>A p.R1003= Synonymous 24/28 - 1
6-31936255-G-C c.3009G>C p.R1003= Synonymous 24/28 - 1
6-31936255-G-T c.3009G>T p.R1003= Synonymous 24/28 - 1
6-31936254-G-A c.3008G>A p.R1003Q Missense 24/28 - 3
6-31936258-G-A c.3012G>A p.K1004= Synonymous 24/28 - 1
6-31936260-T-C c.3014T>C p.L1005P Missense 24/28 - 2
6-31936273-C-T c.3027C>T p.I1009= Synonymous 24/28 - 1
6-31936275-A-G c.3029A>G p.Q1010R Missense 24/28 - 1
6-31936275-CAGGG-C c.3029_3032del p.Q1010Rfs*15 Frameshift 24/28 - 1
6-31936276-G-C c.3030G>C p.Q1010H Missense 24/28 - 1
6-31936280-G-A c.3034G>A p.A1012T Missense 24/28 - 1
6-31936287-G-A c.3041G>A p.C1014Y Missense 24/28 - 1
6-31936299-C-T c.3053C>T p.P1018L Missense 24/28 - 1
6-31936301-C-T c.3055C>T p.R1019C Missense 24/28 - 1
6-31936303-T-G c.3057T>G p.R1019= Synonymous 24/28 - 1
6-31936310-G-A c.3064G>A p.A1022T Missense 24/28 - 1
6-31936386-C-T c.3069+71C>T - IntronicSNV - 24/27 1
6-31936466-C-A c.3073C>A p.L1025M Missense 25/28 - 1
6-31936467-T-C c.3074T>C p.L1025P Missense 25/28 - 1
6-31936475-C-T c.3082C>T p.R1028W Missense 25/28 - 2
6-31936481-CG-GC c.3088_3089delinsGC p.R1030A Missense 25/28 - 1
6-31936481-C-T c.3088C>T p.R1030* Nonsense 25/28 - 2
6-31936482-G-A c.3089G>A p.R1030Q Missense 25/28 - 1
6-31936487-C-T c.3094C>T p.Q1032* Nonsense 25/28 - 4
6-31936492-A-T c.3099A>T p.I1033= Synonymous 25/28 - 1
6-31936493-ACAG-A c.3100_3102del p.Q1034del InFrameDeletion 25/28 - 1
6-31936493-CAGA-C c.3103_3105del p.K1035del InFrameDeletion 25/28 - 3
6-31936499-G-A c.3106G>A p.E1036K Missense 25/28 - 1
6-31936504-GGAGCGGCTGCGCTTCCTACTGTCGGATCA-G c.3113_3141del p.E1038Vfs*7 Frameshift 25/28 - 3
6-31936509-G-A c.3116G>A p.R1039Q Missense 25/28 - 1
6-31936512-T-C c.3119T>C p.L1040P Missense 25/28 - 1
6-31936514-C-T c.3121C>T p.R1041C Missense 25/28 - 4
6-31936515-G-A c.3122G>A p.R1041H Missense 25/28 - 2
6-31936515-G-C c.3122G>C p.R1041P Missense 25/28 - 1
6-31936515-GC-AA c.3122_3123delinsAA p.R1041Q Missense 25/28 - 1
6-31936518-T-C c.3125T>C p.F1042S Missense 25/28 - 1
6-31936519-C-T c.3126C>T p.F1042= Synonymous 25/28 - 4
6-31936523-CT-AC c.3130_3131delinsAC p.L1044T Missense 25/28 - 1
6-31936527-C-G c.3134C>G p.S1045W Missense 25/28 - 1
6-31936527-C-T c.3134C>T p.S1045L Missense 25/28 - 1
6-31936528-G-A c.3135G>A p.S1045= Synonymous 25/28 - 4
6-31936528-G-C c.3135G>C p.S1045= Synonymous 25/28 - 3
6-31936528-G-T c.3135G>T p.S1045= Synonymous 25/28 - 3
6-31936532-C-T c.3139C>T p.Q1047* Nonsense 25/28 - 1
6-31936540-G-A c.3147G>A p.L1049= Synonymous 25/28 - 1
6-31936551-C-G c.3158C>G p.P1053R Missense 25/28 - 1
6-31936553-G-C c.3160G>C p.E1054Q Missense 25/28 - 1
6-31936554-A-G c.3161A>G p.E1054G Missense 25/28 - 1
6-31936565-C-T c.3172C>T p.R1058* Nonsense 25/28 - 1
6-31936566-G-A c.3173G>A p.R1058Q Missense 25/28 - 1
6-31936585-A-T c.3180+12A>T - IntronicSNV - 25/27 1
6-31936597-A-T c.3180+24A>T - IntronicSNV - 25/27 1
6-31936648-G-C c.3181G>C p.V1061L Missense 26/28 - 1
6-31936648-G-T c.3181G>T p.V1061L Missense 26/28 - 1
6-31936652-T-C c.3185T>C p.L1062P Missense 26/28 - 1
6-31936654-C-A c.3187C>A p.R1063= Synonymous 26/28 - 1
6-31936654-C-T c.3187C>T p.R1063* Nonsense 26/28 - 9
6-31936655-G-T c.3188G>T p.R1063L Missense 26/28 - 1
6-31936666-T-C c.3199T>C p.Y1067H Missense 26/28 - 1
6-31936667-A-G c.3200A>G p.Y1067C Missense 26/28 - 1
6-31936668-T-C c.3201T>C p.Y1067= Synonymous 26/28 - 19
6-31936674-C-A c.3207C>A p.D1069E Missense 26/28 - 2
6-31936674-C-G c.3207C>G p.D1069E Missense 26/28 - 2
6-31936675-G-A c.3208G>A p.E1070K Missense 26/28 - 1
6-31936679-C-T c.3212C>T p.A1071V Missense 26/28 - 28
6-31936680-G-A c.3213G>A p.A1071= Synonymous 26/28 - 4
6-31936680-G-C c.3213G>C p.A1071= Synonymous 26/28 - 3
6-31936680-G-T c.3213G>T p.A1071= Synonymous 26/28 - 3
6-31936692-G-A c.3225G>A p.K1075= Synonymous 26/28 - 1
6-31936697-C-A c.3230C>A p.A1077E Missense 26/28 - 1
6-31936699-GGG-AGC c.3232_3234delinsAGC p.G1078S Missense 26/28 - 1
6-31936700-G-C c.3233G>C p.G1078A Missense 26/28 - 1
6-31936702-C-T c.3235C>T p.R1079W Missense 26/28 - 1
6-31936703-G-A c.3236G>A p.R1079Q Missense 26/28 - 6
6-31936703-G-T c.3236G>T p.R1079L Missense 26/28 - 1
6-31936714-G-A c.3247G>A p.A1083T Missense 26/28 - 1
6-31936714-G-C c.3247G>C p.A1083P Missense 26/28 - 1
6-31936718-T-C c.3251T>C p.M1084T Missense 26/28 - 2
6-31936719-G-A c.3252G>A p.M1084I Missense 26/28 - 1
6-31936721-G-A c.3254G>A p.S1085N Missense 26/28 - 1
6-31936723-A-G c.3256A>G p.S1086G Missense 26/28 - 1
6-31936729-G-T c.3262G>T p.E1088* Nonsense 26/28 - 3
6-31936730-A-C c.3263A>C p.E1088A Missense 26/28 - 1
6-31936732-T-C c.3265T>C p.L1089= Synonymous 26/28 - 1
6-31936746-G-A c.3279G>A p.E1093= Synonymous 26/28 - 1
6-31936746-G-C c.3279G>C p.E1093D Missense 26/28 - 1
6-31936756-G-A c.3289G>A p.D1097N Missense 26/28 - 1
6-31936759-A-G c.3292A>G p.N1098D Missense 26/28 - 1
6-31936766-T-C c.3299T>C p.L1100P Missense 26/28 - 2
6-31936777-C-T c.3310C>T p.R1104W Missense 26/28 - 3
6-31936780-C-T c.3313C>T p.P1105S Missense 26/28 - 1
6-31936795-G-C c.3328G>C p.A1110P Missense 26/28 - 4
6-31936802-CTCTCTGGCCTGGTCTGCCAG-C c.3335_3354del p.L1112Qfs*29 Frameshift 26/28 - 1
6-31936805-C-T c.3338C>T p.S1113F Missense 26/28 - 1
6-31936808-G-C c.3341G>C p.G1114A Missense 26/28 - 1
6-31936816-T-C c.3349T>C p.C1117R Missense 26/28 - 1
6-31936817-G-C c.3350G>C p.C1117S Missense 26/28 - 1
6-31936820-A-G c.3353A>G p.Q1118R Missense 26/28 - 1
6-31936822-A-T c.3355A>T p.S1119C Missense 26/28 - 1
6-31936833-C-T c.3366C>T p.D1122= Synonymous 26/28 - 1
6-31936834-G-A c.3367G>A p.A1123T Missense 26/28 - 1
6-31936838-GG-AC c.3371_3372delinsAC p.G1124D Missense 26/28 - 1
6-31936849-C-T c.3382C>T p.P1128S Missense 26/28 - 2
6-31936855-AC-A c.3391del p.L1131Sfs*5 Frameshift 26/28 - 2
6-31936859-T-C c.3392T>C p.L1131P Missense 26/28 - 1
6-31937037-C-T c.3400-20C>T - IntronicSNV - 26/27 2
6-31937057-G-A c.3400G>A p.G1134R Missense 27/28 - 2
6-31937057-G-C c.3400G>C p.G1134R Missense 27/28 - 2
6-31937060-A-G c.3403A>G p.I1135V Missense 27/28 - 1
6-31937061-T-C c.3404T>C p.I1135T Missense 27/28 - 2
6-31937063-G-T c.3406G>T p.E1136* Nonsense 27/28 - 1
6-31937064-A-G c.3407A>G p.E1136G Missense 27/28 - 1
6-31937066-C-T c.3409C>T p.R1137C Missense 27/28 - 1
6-31937067-G-A c.3410G>A p.R1137H Missense 27/28 - 1
6-31937072-CG-TA c.3415_3416delinsTA p.R1139* Nonsense 27/28 - 1
6-31937072-C-T c.3415C>T p.R1139W Missense 27/28 - 2
6-31937073-G-A c.3416G>A p.R1139Q Missense 27/28 - 2
6-31937073-GG-AT c.3416_3417delinsAT p.R1139H Missense 27/28 - 1
6-31937087-C-T c.3430C>T p.R1144W Missense 27/28 - 3
6-31937088-G-A c.3431G>A p.R1144Q Missense 27/28 - 1
6-31937088-G-T c.3431G>T p.R1144L Missense 27/28 - 1
6-31937092-T-C c.3435T>C p.I1145= Synonymous 27/28 - 1
6-31937093-G-T c.3436G>T p.G1146C Missense 27/28 - 1
6-31937096-G-A c.3439G>A p.E1147K Missense 27/28 - 1
6-31937105-G-A c.3448G>A p.V1150M Missense 27/28 - 1
6-31937106-T-G c.3449T>G p.V1150G Missense 27/28 - 1
6-31937107-G-T c.3450G>T p.V1150= Synonymous 27/28 - 1
6-31937109-C-G c.3452C>G p.A1151G Missense 27/28 - 1
6-31937114-G-C c.3457G>C p.G1153R Missense 27/28 - 2
6-31937115-G-C c.3458G>C p.G1153A Missense 27/28 - 1
6-31937123-C-T c.3466C>T p.Q1156* Nonsense 27/28 - 1
6-31937124-A-T c.3467A>T p.Q1156L Missense 27/28 - 1
6-31937127-C-T c.3470C>T p.T1157M Missense 27/28 - 4
6-31937130-T-G c.3473T>G p.V1158G Missense 27/28 - 1
6-31937146-G-A c.3489G>A p.G1163= Synonymous 27/28 - 1
6-31937142-T-TG c.3490dup p.E1164Gfs*8 Frameshift 27/28 - 1
6-31937152-G-A c.3495G>A p.L1165= Synonymous 27/28 - 2
6-31937154-A-G c.3497A>G p.N1166S Missense 27/28 - 1
6-31937160-G-A c.3503G>A p.G1168E Missense 27/28 - 1
6-31937164-G-T c.3507G>T p.L1169= Synonymous 27/28 - 1
6-31937165-G-GT c.3510dup p.E1171* Nonsense 27/28 - 1
6-31937167-T-A c.3510T>A p.V1170= Synonymous 27/28 - 1
6-31937168-G-A c.3511G>A p.E1171K Missense 27/28 - 1
6-31937171-G-A c.3514G>A p.V1172I Missense 27/28 - 1
6-31937172-T-C c.3515T>C p.V1172A Missense 27/28 - 2
6-31937176-A-G c.3519A>G p.V1173= Synonymous 27/28 - 1
6-31937178-A-G c.3521A>G p.Y1174C Missense 27/28 - 2
6-31937183-T-A c.3526T>A p.W1176R Missense 27/28 - 1
6-31937183-T-C c.3526T>C p.W1176R Missense 27/28 - 1
6-31937187-C-G c.3530C>G p.A1177G Missense 27/28 - 1
6-31937189-CGG-TGT c.3532_3534delinsTGT p.R1178C Missense 27/28 - 1
6-31937189-C-T c.3532C>T p.R1178W Missense 27/28 - 6
6-31937190-G-C c.3533G>C p.R1178P Missense 27/28 - 1
6-31937204-A-G c.3540+7A>G - IntronicSNV - 27/27 1
6-31937292-C-T c.3541C>T p.P1181S Missense 28/28 - 1
6-31937294-C-T c.3543C>T p.P1181= Synonymous 28/28 - 1
6-31937301-G-A c.3550G>A p.E1184K Missense 28/28 - 1
6-31937307-G-A c.3556G>A p.A1186T Missense 28/28 - 1
6-31937310-G-A c.3559G>A p.G1187R Missense 28/28 - 2
6-31937309-AGGGCTCTCAGGGACCCCTGAG-A c.3561_3581del p.S1189_L1195del InFrameDeletion 28/28 - 8
6-31937314-T-C c.3563T>C p.L1188P Missense 28/28 - 1
6-31937316-CTCAGGGACCCCTGAGGGCCTG-C c.3565_3585del p.S1189_L1195del InFrameDeletion 28/28 - 1
6-31937317-C-G c.3566C>G p.S1189* Nonsense 28/28 - 1
6-31937317-C-T c.3566C>T p.S1189L Missense 28/28 - 1
6-31937319-G-A c.3568G>A p.G1190R Missense 28/28 - 1
6-31937322-A-G c.3571A>G p.T1191A Missense 28/28 - 1
6-31937323-C-T c.3572C>T p.T1191I Missense 28/28 - 1
6-31937322-AC-A c.3575del p.P1192Lfs*26 Frameshift 28/28 - 1
6-31937328-G-A c.3577G>A p.E1193K Missense 28/28 - 1
6-31937328-G-C c.3577G>C p.E1193Q Missense 28/28 - 1
6-31937331-G-A c.3580G>A p.G1194S Missense 28/28 - 1
6-31937332-G-C c.3581G>C p.G1194A Missense 28/28 - 1
6-31937334-CCTG-C c.3583_3585del p.L1195del InFrameDeletion 28/28 - 5
6-31937340-G-A c.3589G>A p.V1197I Missense 28/28 - 1
6-31937342-C-T c.3591C>T p.V1197= Synonymous 28/28 - 1
6-31937343-C-T c.3592C>T p.R1198C Missense 28/28 - 2
6-31937344-G-A c.3593G>A p.R1198H Missense 28/28 - 3
6-31937353-CAGCGCCTG-C c.3602_3609del p.Q1201Rfs*2 Frameshift 28/28 - 1
6-31937355-C-T c.3604C>T p.R1202C Missense 28/28 - 1
6-31937356-G-A c.3605G>A p.R1202H Missense 28/28 - 5
6-31937361-G-A c.3610G>A p.A1204T Missense 28/28 - 1
6-31937372-T-C c.3621T>C p.C1207= Synonymous 28/28 - 1
6-31937373-C-T c.3622C>T p.R1208C Missense 28/28 - 3
6-31937374-G-A c.3623G>A p.R1208H Missense 28/28 - 3
6-31937382-C-A c.3631C>A p.R1211= Synonymous 28/28 - 1
6-31937382-C-T c.3631C>T p.R1211W Missense 28/28 - 2
6-31937384-G-A c.3633G>A p.R1211= Synonymous 28/28 - 1
6-31937384-G-C c.3633G>C p.R1211= Synonymous 28/28 - 1
6-31937384-G-T c.3633G>T p.R1211= Synonymous 28/28 - 1
6-31937383-G-A c.3632G>A p.R1211Q Missense 28/28 - 1
6-31937383-G-C c.3632G>C p.R1211P Missense 28/28 - 1
6-31937382-C-CG c.3637dup p.A1213Gfs*? Frameshift 28/28 - 2
6-31937382-CG-C c.3637del p.A1213Qfs*5 Frameshift 28/28 - 1
6-31937388-G-A c.3637G>A p.A1213T Missense 28/28 - 1
6-31937389-C-G c.3638C>G p.A1213G Missense 28/28 - 1
6-31937391-G-A c.3640G>A p.A1214T Missense 28/28 - 2
6-31937391-GC-TG c.3640_3641delinsTG p.A1214C Missense 28/28 - 1
6-31937394-C-T c.3643C>T p.R1215C Missense 28/28 - 1
6-31937395-G-A c.3644G>A p.R1215H Missense 28/28 - 2
6-31937395-G-T c.3644G>T p.R1215L Missense 28/28 - 1
6-31937403-G-A c.3652G>A p.G1218R Missense 28/28 - 1
6-31937406-G-T c.3655G>T p.E1219* Nonsense 28/28 - 1
6-31937412-G-A c.3661G>A p.V1221M Missense 28/28 - 1
6-31937415-C-T c.3664C>T p.L1222= Synonymous 28/28 - 1
6-31937417-G-A c.3666G>A p.L1222= Synonymous 28/28 - 2
6-31937417-G-C c.3666G>C p.L1222= Synonymous 28/28 - 1
6-31937417-G-T c.3666G>T p.L1222= Synonymous 28/28 - 1
6-31937418-G-T c.3667G>T p.G1223C Missense 28/28 - 1
6-31937426-G-C c.3675G>C p.K1225N Missense 28/28 - 1
6-31937436-G-A c.3685G>A p.A1229T Missense 28/28 - 1
6-31937437-C-T c.3686C>T p.A1229V Missense 28/28 - 2
6-31937448-C-G c.3697C>G p.L1233V Missense 28/28 - 1
6-31937448-C-T c.3697C>T p.L1233= Synonymous 28/28 - 1
6-31937451-CG-TA c.3700_3701delinsTA p.R1234* Nonsense 28/28 - 1
6-31937451-C-T c.3700C>T p.R1234W Missense 28/28 - 2
6-31937452-G-A c.3701G>A p.R1234Q Missense 28/28 - 3
6-31937455-G-A c.3704G>A p.R1235Q Missense 28/28 - 2
6-31937457-G-A c.3706G>A p.D1236N Missense 28/28 - 1
6-31937462-C-A c.3711C>A p.I1237= Synonymous 28/28 - 1
6-31937462-C-T c.3711C>T p.I1237= Synonymous 28/28 - 2
6-31937463-G-A c.3712G>A p.V1238I Missense 28/28 - 1
6-31937464-T-G c.3713T>G p.V1238G Missense 28/28 - 3
6-31937468-T-A c.3717T>A p.F1239L Missense 28/28 - 1
6-31937469-G-A c.3718G>A p.A1240T Missense 28/28 - 2
6-31937469-G-T c.3718G>T p.A1240S Missense 28/28 - 1
6-31937470-C-T c.3719C>T p.A1240V Missense 28/28 - 2
6-31937470-CGGCCA-C c.3721_3725del p.A1241Pfs*? Frameshift 28/28 - 1
6-31937486-C-A c.3735C>A p.T1245= Synonymous 28/28 - 1
6-31937486-C-G c.3735C>G p.T1245= Synonymous 28/28 - 1
6-31937486-C-T c.3735C>T p.T1245= Synonymous 28/28 - 1
6-31937487-C-T c.3736C>T p.Q1246* Nonsense 28/28 - 1
6-31937511-T-C c.*19T>C - 3-UTRSNV 28/28 - 3