PSMD2

PSMD2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2

Annotation transcript: NM_002808.5

1061 unique variant annotations were identified in 469 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
3-184017055-A-C c.1A>C p.M1? Missense 1/21 - 1
3-184017057-G-C c.3G>C p.M1? Missense 1/21 - 1
3-184017057-GGAGGAGGGAGGCCGGGACAA-G c.5_24del p.E2Gfs*39 Frameshift 1/21 - 1
3-184017062-A-G c.8A>G p.E3G Missense 1/21 - 1
3-184017063-G-C c.9G>C p.E3D Missense 1/21 - 1
3-184017063-G-T c.9G>T p.E3D Missense 1/21 - 1
3-184017065-GAGGCCGGGAC-G c.13_22del p.G5Rfs*56 Frameshift 1/21 - 1
3-184017070-C-A c.16C>A p.R6= Synonymous 1/21 - 1
3-184017071-GG-AT c.17_18delinsAT p.R6H Missense 1/21 - 1
3-184017075-C-A c.21C>A p.D7E Missense 1/21 - 1
3-184017075-C-G c.21C>G p.D7E Missense 1/21 - 5
3-184017078-G-A c.24G>A p.K8= Synonymous 1/21 - 2
3-184017080-C-T c.26C>T p.A9V Missense 1/21 - 1
3-184017081-G-T c.27G>T p.A9= Synonymous 1/21 - 1
3-184017084-G-A c.30G>A p.P10= Synonymous 1/21 - 1
3-184017084-G-C c.30G>C p.P10= Synonymous 1/21 - 1
3-184017084-G-T c.30G>T p.P10= Synonymous 1/21 - 1
3-184017085-G-C c.31G>C p.V11L Missense 1/21 - 4
3-184017085-G-T c.31G>T p.V11L Missense 1/21 - 4
3-184017091-CC-GT c.37_38delinsGT p.P13V Missense 1/21 - 1
3-184017091-C-G c.37C>G p.P13A Missense 1/21 - 2
3-184017092-C-A c.38C>A p.P13H Missense 1/21 - 1
3-184017094-CAG-GAC c.40_42delinsGAC p.Q14D Missense 1/21 - 1
3-184017096-G-C c.42G>C p.Q14H Missense 1/21 - 1
3-184017096-G-T c.42G>T p.Q14H Missense 1/21 - 1
3-184017097-C-T c.43C>T p.Q15* Nonsense 1/21 - 1
3-184017100-T-G c.46T>G p.S16A Missense 1/21 - 1
3-184017101-C-A c.47C>A p.S16Y Missense 1/21 - 1
3-184017102-T-A c.48T>A p.S16= Synonymous 1/21 - 1
3-184017102-T-C c.48T>C p.S16= Synonymous 1/21 - 1
3-184017102-T-G c.48T>G p.S16= Synonymous 1/21 - 1
3-184017106-G-C c.52G>C p.A18P Missense 1/21 - 3
3-184017107-C-T c.53C>T p.A18V Missense 1/21 - 2
3-184017109-G-C c.55G>C p.A19P Missense 1/21 - 1
3-184017109-GC-AT c.55_56delinsAT p.A19M Missense 1/21 - 1
3-184017109-GC-CT c.55_56delinsCT p.A19L Missense 1/21 - 1
3-184017110-C-T c.56C>T p.A19V Missense 1/21 - 1
3-184017111-G-A c.57G>A p.A19= Synonymous 1/21 - 2
3-184017111-G-C c.57G>C p.A19= Synonymous 1/21 - 1
3-184017111-G-T c.57G>T p.A19= Synonymous 1/21 - 2
3-184017112-G-A c.58G>A p.A20T Missense 1/21 - 1
3-184017112-G-C c.58G>C p.A20P Missense 1/21 - 1
3-184017112-GCC-TGG c.58_60delinsTGG p.A20W Missense 1/21 - 1
3-184017112-G-T c.58G>T p.A20S Missense 1/21 - 1
3-184017113-C-A c.59C>A p.A20D Missense 1/21 - 2
3-184017114-C-A c.60C>A p.A20= Synonymous 1/21 - 1
3-184017114-C-G c.60C>G p.A20= Synonymous 1/21 - 1
3-184017114-C-T c.60C>T p.A20= Synonymous 1/21 - 1
3-184017115-CC-GT c.61_62delinsGT p.P21V Missense 1/21 - 1
3-184017117-C-A c.63C>A p.P21= Synonymous 1/21 - 1
3-184017117-C-G c.63C>G p.P21= Synonymous 1/21 - 1
3-184017117-C-T c.63C>T p.P21= Synonymous 1/21 - 1
3-184017118-G-C c.64G>C p.G22R Missense 1/21 - 1
3-184017118-GGC-TGA c.64_66delinsTGA p.G22* Nonsense 1/21 - 1
3-184017121-G-T c.67G>T p.G23C Missense 1/21 - 1
3-184017123-GC-G c.69del p.T24Rfs*40 Frameshift 1/21 - 1
3-184017127-G-A c.73G>A p.D25N Missense 1/21 - 2
3-184017127-GAC-CAA c.73_75delinsCAA p.D25Q Missense 1/21 - 1
3-184017129-C-A c.75C>A p.D25E Missense 1/21 - 1
3-184017129-C-G c.75C>G p.D25E Missense 1/21 - 1
3-184017134-A-T c.80A>T p.K27M Missense 1/21 - 1
3-184017137-C-A c.83C>A p.P28Q Missense 1/21 - 1
3-184017138-G-A c.84G>A p.P28= Synonymous 1/21 - 1
3-184017139-AG-GC c.85_86delinsGC p.S29A Missense 1/21 - 3
3-184017143-G-C c.89G>C p.G30A Missense 1/21 - 1
3-184017145-AA-GC c.91_92delinsGC p.K31A Missense 1/21 - 1
3-184017151-C-T c.97C>T p.R33W Missense 1/21 - 1
3-184017154-C-T c.100C>T p.R34W Missense 1/21 - 1
3-184017161-CC-AG c.107_108delinsAG p.A36E Missense 1/21 - 1
3-184017163-G-A c.109G>A p.G37R Missense 1/21 - 1
3-184017163-G-C c.109G>C p.G37R Missense 1/21 - 1
3-184017164-G-C c.110G>C p.G37A Missense 1/21 - 1
3-184017164-G-T c.110G>T p.G37V Missense 1/21 - 1
3-184017166-G-T c.112G>T p.D38Y Missense 1/21 - 1
3-184017169-A-G c.115A>G p.K39E Missense 1/21 - 1
3-184017172-GA-AG c.118_119delinsAG p.D40S Missense 1/21 - 1
3-184017172-G-T c.118G>T p.D40Y Missense 1/21 - 1
3-184017175-AA-GC c.121_122delinsGC p.K41A Missense 1/21 - 1
3-184017177-A-G c.123A>G p.K41= Synonymous 1/21 - 1
3-184017178-G-A c.124G>A p.E42K Missense 1/21 - 3
3-184017179-A-C c.125A>C p.E42A Missense 1/21 - 2
3-184017187-C-A c.133C>A p.L45M Missense 1/21 - 1
3-184017640-C-T c.137C>T p.S46F Missense 2/21 - 2
3-184017645-G-C c.142G>C p.E48Q Missense 2/21 - 1
3-184017647-G-A c.144G>A p.E48= Synonymous 2/21 - 2
3-184017648-G-A c.145G>A p.D49N Missense 2/21 - 1
3-184017651-AA-GC c.148_149delinsGC p.K50A Missense 2/21 - 1
3-184017651-A-G c.148A>G p.K50E Missense 2/21 - 1
3-184017656-G-C c.153G>C p.Q51H Missense 2/21 - 1
3-184017656-G-T c.153G>T p.Q51H Missense 2/21 - 1
3-184017661-A-C c.158A>C p.Q53P Missense 2/21 - 1
3-184017663-G-T c.160G>T p.D54Y Missense 2/21 - 1
3-184017666-G-T c.163G>T p.E55* Nonsense 2/21 - 2
3-184017669-C-T c.166C>T p.L56= Synonymous 2/21 - 1
3-184017671-G-A c.168G>A p.L56= Synonymous 2/21 - 1
3-184017671-G-C c.168G>C p.L56= Synonymous 2/21 - 1
3-184017671-G-T c.168G>T p.L56= Synonymous 2/21 - 1
3-184017675-AT-TA c.172_173delinsTA p.M58* Nonsense 2/21 - 1
3-184017678-C-G c.175C>G p.L59V Missense 2/21 - 1
3-184017681-G-C c.178G>C p.V60L Missense 2/21 - 2
3-184017681-G-T c.178G>T p.V60L Missense 2/21 - 3
3-184017687-C-T c.184C>T p.R62* Nonsense 2/21 - 1
3-184017690-C-A c.187C>A p.L63I Missense 2/21 - 1
3-184017693-GGG-AGC c.190_192delinsAGC p.G64S Missense 2/21 - 1
3-184017696-G-A c.192+1G>A - IntronicSNV - 2/20 1
3-184017888-T-C c.193-180T>C - IntronicSNV - 2/20 1
3-184018068-G-A c.193G>A p.E65K Missense 3/21 - 2
3-184018068-G-C c.193G>C p.E65Q Missense 3/21 - 1
3-184018068-G-T c.193G>T p.E65* Nonsense 3/21 - 1
3-184018070-G-A c.195G>A p.E65= Synonymous 3/21 - 1
3-184018073-G-A c.198G>A p.K66= Synonymous 3/21 - 1
3-184018075-A-T c.200A>T p.D67V Missense 3/21 - 1
3-184018081-C-A c.206C>A p.S69Y Missense 3/21 - 1
3-184018087-A-G c.212A>G p.Y71C Missense 3/21 - 1
3-184018089-CG-GA c.214_215delinsGA p.R72E Missense 3/21 - 1
3-184018089-CG-GC c.214_215delinsGC p.R72A Missense 3/21 - 3
3-184018089-C-T c.214C>T p.R72* Nonsense 3/21 - 4
3-184018090-G-A c.215G>A p.R72Q Missense 3/21 - 3
3-184018092-C-A c.217C>A p.P73T Missense 3/21 - 1
3-184018092-CCA-AAC c.217_219delinsAAC p.P73N Missense 3/21 - 1
3-184018092-C-T c.217C>T p.P73S Missense 3/21 - 1
3-184018093-C-A c.218C>A p.P73Q Missense 3/21 - 1
3-184018098-C-T c.223C>T p.L75= Synonymous 3/21 - 1
3-184018100-G-A c.225G>A p.L75= Synonymous 3/21 - 2
3-184018100-G-C c.225G>C p.L75= Synonymous 3/21 - 1
3-184018100-G-T c.225G>T p.L75= Synonymous 3/21 - 1
3-184018102-A-G c.227A>G p.E76G Missense 3/21 - 1
3-184018111-G-A c.236G>A p.R79Q Missense 3/21 - 5
3-184018111-GA-AT c.236_237delinsAT p.R79H Missense 3/21 - 1
3-184018113-AG-GC c.238_239delinsGC p.R80A Missense 3/21 - 1
3-184018118-G-A c.243G>A p.Q81= Synonymous 3/21 - 1
3-184018118-G-C c.243G>C p.Q81H Missense 3/21 - 4
3-184018118-G-T c.243G>T p.Q81H Missense 3/21 - 4
3-184018119-AT-GC c.244_245delinsGC p.I82A Missense 3/21 - 1
3-184018123-GT-AA c.248_249delinsAA p.R83Q Missense 3/21 - 1
3-184018125-T-C c.250T>C p.S84P Missense 3/21 - 1
3-184018129-C-T c.254C>T p.S85F Missense 3/21 - 3
3-184018134-A-C c.259A>C p.T87P Missense 3/21 - 1
3-184018135-C-G c.260C>G p.T87S Missense 3/21 - 1
3-184018137-T-G c.262T>G p.S88A Missense 3/21 - 1
3-184018138-C-G c.263C>G p.S88C Missense 3/21 - 1
3-184018147-C-A c.272C>A p.S91* Nonsense 3/21 - 2
3-184018147-C-G c.272C>G p.S91* Nonsense 3/21 - 2
3-184018147-C-T c.272C>T p.S91L Missense 3/21 - 3
3-184018149-GTG-ATC c.274_276delinsATC p.V92I Missense 3/21 - 1
3-184018152-C-A c.277C>A p.P93T Missense 3/21 - 1
3-184018152-CC-AA c.277_278delinsAA p.P93N Missense 3/21 - 1
3-184018153-C-T c.278C>T p.P93L Missense 3/21 - 1
3-184018158-C-A c.283C>A p.P95T Missense 3/21 - 1
3-184018158-CC-AA c.283_284delinsAA p.P95N Missense 3/21 - 1
3-184018161-C-A c.286C>A p.L96I Missense 3/21 - 2
3-184018163-C-A c.288C>A p.L96= Synonymous 3/21 - 1
3-184018163-C-G c.288C>G p.L96= Synonymous 3/21 - 1
3-184018163-C-T c.288C>T p.L96= Synonymous 3/21 - 1
3-184018167-TT-GC c.292_293delinsGC p.F98A Missense 3/21 - 1
3-184018168-T-G c.293T>G p.F98C Missense 3/21 - 1
3-184018171-T-A c.296T>A p.L99Q Missense 3/21 - 2
3-184018171-T-C c.296T>C p.L99P Missense 3/21 - 2
3-184018173-C-G c.298C>G p.R100G Missense 3/21 - 1
3-184018173-CG-GC c.298_299delinsGC p.R100A Missense 3/21 - 1
3-184018173-C-T c.298C>T p.R100C Missense 3/21 - 1
3-184018174-G-A c.299G>A p.R100H Missense 3/21 - 7
3-184018174-GT-AA c.299_300delinsAA p.R100Q Missense 3/21 - 1
3-184018176-C-A c.301C>A p.P101T Missense 3/21 - 1
3-184018176-CCA-AAC c.301_303delinsAAC p.P101N Missense 3/21 - 1
3-184018176-C-G c.301C>G p.P101A Missense 3/21 - 8
3-184018178-A-C c.303A>C p.P101= Synonymous 3/21 - 1
3-184018178-A-G c.303A>G p.P101= Synonymous 3/21 - 1
3-184018178-A-T c.303A>T p.P101= Synonymous 3/21 - 1
3-184018179-CA-GC c.304_305delinsGC p.H102A Missense 3/21 - 1
3-184018184-T-C c.309T>C p.Y103= Synonymous 3/21 - 1
3-184018185-G-C c.310G>C p.G104R Missense 3/21 - 1
3-184018186-G-A c.311G>A p.G104D Missense 3/21 - 1
3-184018187-C-T c.312C>T p.G104= Synonymous 3/21 - 1
3-184018188-AA-GC c.313_314delinsGC p.K105A Missense 3/21 - 1
3-184018189-A-G c.314A>G p.K105R Missense 3/21 - 1
3-184018191-C-T c.316C>T p.L106= Synonymous 3/21 - 1
3-184018196-G-A c.321G>A p.K107= Synonymous 3/21 - 1
3-184018197-G-A c.322G>A p.E108K Missense 3/21 - 2
3-184018198-A-G c.323A>G p.E108G Missense 3/21 - 2
3-184018203-T-C c.328T>C p.Y110H Missense 3/21 - 1
3-184018206-G-A c.331G>A p.E111K Missense 3/21 - 1
3-184018206-G-C c.331G>C p.E111Q Missense 3/21 - 4
3-184018215-G-A c.340G>A p.A114T Missense 3/21 - 2
3-184018218-C-G c.343C>G p.P115A Missense 3/21 - 1
3-184018223-G-A c.348G>A p.G116= Synonymous 3/21 - 1
3-184018223-G-C c.348G>C p.G116= Synonymous 3/21 - 1
3-184018223-G-T c.348G>T p.G116= Synonymous 3/21 - 1
3-184018232-G-A c.357G>A p.K119= Synonymous 3/21 - 1
3-184018232-G-C c.357G>C p.K119N Missense 3/21 - 1
3-184018232-G-T c.357G>T p.K119N Missense 3/21 - 1
3-184018370-A-C c.357+138A>C - IntronicSNV - 3/20 1
3-184018370-A-G c.357+138A>G - IntronicSNV - 3/20 1
3-184019325-C-G c.358C>G p.R120G Missense 4/21 - 5
3-184019325-C-T c.358C>T p.R120C Missense 4/21 - 1
3-184019326-G-A c.359G>A p.R120H Missense 4/21 - 1
3-184019326-GT-AA c.359_360delinsAA p.R120Q Missense 4/21 - 1
3-184019328-TT-GC c.361_362delinsGC p.F121A Missense 4/21 - 1
3-184019329-T-A c.362T>A p.F121Y Missense 4/21 - 1
3-184019337-G-C c.370G>C p.D124H Missense 4/21 - 1
3-184019337-G-T c.370G>T p.D124Y Missense 4/21 - 1
3-184019342-C-A c.375C>A p.I125= Synonymous 4/21 - 1
3-184019342-C-T c.375C>T p.I125= Synonymous 4/21 - 1
3-184019343-A-G c.376A>G p.I126V Missense 4/21 - 1
3-184019347-C-T c.380C>T p.S127F Missense 4/21 - 7
3-184019348-C-T c.381C>T p.S127= Synonymous 4/21 - 1
3-184019349-G-A c.382G>A p.V128I Missense 4/21 - 4
3-184019349-GTT-ATG c.382_384delinsATG p.V128M Missense 4/21 - 1
3-184019354-G-C c.387G>C p.L129F Missense 4/21 - 1
3-184019355-G-A c.388G>A p.A130T Missense 4/21 - 1
3-184019356-C-T c.389C>T p.A130V Missense 4/21 - 1
3-184019358-A-G c.391A>G p.M131V Missense 4/21 - 1
3-184019369-TG-T c.406del p.E136Sfs*9 Frameshift 4/21 - 1
3-184019376-C-G c.409C>G p.R137G Missense 4/21 - 1
3-184019377-G-A c.410G>A p.R137H Missense 4/21 - 2
3-184019379-G-A c.412G>A p.E138K Missense 4/21 - 2
3-184019380-A-C c.413A>C p.E138A Missense 4/21 - 2
3-184019382-TG-AA c.415_416delinsAA p.C139N Missense 4/21 - 1
3-184019384-C-T c.417C>T p.C139= Synonymous 4/21 - 1
3-184019394-C-T c.427C>T p.R143W Missense 4/21 - 1
3-184019395-G-A c.428G>A p.R143Q Missense 4/21 - 4
3-184019396-G-A c.429G>A p.R143= Synonymous 4/21 - 1
3-184019398-T-C c.431T>C p.L144P Missense 4/21 - 2
3-184019401-T-A c.434T>A p.V145E Missense 4/21 - 2
3-184019403-G-A c.436G>A p.G146S Missense 4/21 - 1
3-184019404-G-T c.437G>T p.G146V Missense 4/21 - 1
3-184019406-TC-GG c.439_440delinsGG p.S147G Missense 4/21 - 1
3-184019408-C-A c.441C>A p.S147= Synonymous 4/21 - 1
3-184019408-C-G c.441C>G p.S147= Synonymous 4/21 - 1
3-184019408-C-T c.441C>T p.S147= Synonymous 4/21 - 1
3-184019409-C-T c.442C>T p.Q148* Nonsense 4/21 - 1
3-184019414-G-T c.447G>T p.E149D Missense 4/21 - 2
3-184019417-A-G c.450A>G p.E150= Synonymous 4/21 - 2
3-184019421-G-A c.454G>A p.A152T Missense 4/21 - 1
3-184019424-TCA-AAC c.457_459delinsAAC p.S153N Missense 4/21 - 1
3-184019425-C-T c.458C>T p.S153L Missense 4/21 - 5
3-184019426-A-C c.459A>C p.S153= Synonymous 4/21 - 1
3-184019426-A-G c.459A>G p.S153= Synonymous 4/21 - 1
3-184019426-A-T c.459A>T p.S153= Synonymous 4/21 - 1
3-184019427-T-C c.460T>C p.W154R Missense 4/21 - 1
3-184019429-G-T c.462G>T p.W154C Missense 4/21 - 1
3-184019430-G-T c.463G>T p.G155C Missense 4/21 - 1
3-184019433-C-T c.466C>T p.H156Y Missense 4/21 - 1
3-184019434-A-C c.467A>C p.H156P Missense 4/21 - 1
3-184019436-G-A c.469G>A p.E157K Missense 4/21 - 1
3-184019436-G-C c.469G>C p.E157Q Missense 4/21 - 2
3-184019437-A-C c.470A>C p.E157A Missense 4/21 - 1
3-184019438-G-A c.471G>A p.E157= Synonymous 4/21 - 1
3-184019444-C-G c.477C>G p.V159= Synonymous 4/21 - 1
3-184019447-G-A c.479+1G>A - IntronicSNV - 4/20 1
3-184019639-C-T c.484C>T p.L162= Synonymous 5/21 - 1
3-184019642-G-A c.487G>A p.A163T Missense 5/21 - 2
3-184019644-A-C c.489A>C p.A163= Synonymous 5/21 - 1
3-184019644-A-G c.489A>G p.A163= Synonymous 5/21 - 1
3-184019644-A-T c.489A>T p.A163= Synonymous 5/21 - 1
3-184019651-G-A c.496G>A p.V166M Missense 5/21 - 2
3-184019654-G-A c.499G>A p.A167T Missense 5/21 - 1
3-184019655-C-A c.500C>A p.A167D Missense 5/21 - 2
3-184019657-A-G c.502A>G p.K168E Missense 5/21 - 1
3-184019660-G-A c.505G>A p.E169K Missense 5/21 - 1
3-184019664-G-A c.509G>A p.W170* Nonsense 5/21 - 1
3-184019664-G-C c.509G>C p.W170S Missense 5/21 - 1
3-184019665-G-A c.510G>A p.W170* Nonsense 5/21 - 1
3-184019666-C-T c.511C>T p.Q171* Nonsense 5/21 - 1
3-184019668-G-C c.513G>C p.Q171H Missense 5/21 - 2
3-184019668-G-T c.513G>T p.Q171H Missense 5/21 - 2
3-184019670-A-G c.515A>G p.E172G Missense 5/21 - 1
3-184019674-G-A c.519G>A p.L173= Synonymous 5/21 - 1
3-184019680-C-T c.525C>T p.D175= Synonymous 5/21 - 3
3-184019681-G-A c.526G>A p.A176T Missense 5/21 - 16
3-184019681-G-C c.526G>C p.A176P Missense 5/21 - 3
3-184019681-G-T c.526G>T p.A176S Missense 5/21 - 3
3-184019689-G-A c.534G>A p.K178= Synonymous 5/21 - 1
3-184019696-CG-AA c.541_542delinsAA p.R181K Missense 5/21 - 1
3-184019696-CGG-ATC c.541_543delinsATC p.R181I Missense 5/21 - 1
3-184019696-CG-GC c.541_542delinsGC p.R181A Missense 5/21 - 1
3-184019696-C-T c.541C>T p.R181W Missense 5/21 - 4
3-184019697-G-A c.542G>A p.R181Q Missense 5/21 - 5
3-184019700-A-C c.545A>C p.E182A Missense 5/21 - 5
3-184019702-C-T c.547C>T p.P183S Missense 5/21 - 2
3-184019705-C-G c.550C>G p.L184V Missense 5/21 - 2
3-184019706-T-C c.551T>C p.L184P Missense 5/21 - 1
3-184019718-T-C c.563T>C p.V188A Missense 5/21 - 3
3-184019719-G-T c.564G>T p.V188= Synonymous 5/21 - 1
3-184019722-G-C c.567G>C p.K189N Missense 5/21 - 1
3-184019722-G-T c.567G>T p.K189N Missense 5/21 - 1
3-184019723-G-C c.568G>C p.E190Q Missense 5/21 - 1
3-184019724-A-C c.569A>C p.E190A Missense 5/21 - 1
3-184019730-T-C c.575T>C p.V192A Missense 5/21 - 2
3-184019732-C-T c.577C>T p.P193S Missense 5/21 - 2
3-184019736-A-C c.581A>C p.Y194S Missense 5/21 - 1
3-184019737-T-C c.582T>C p.Y194= Synonymous 5/21 - 1
3-184019744-GCC-ATG c.589_591delinsATG p.A197M Missense 5/21 - 1
3-184019744-G-T c.589G>T p.A197S Missense 5/21 - 2
3-184019750-A-G c.595A>G p.N199D Missense 5/21 - 1
3-184019754-C-G c.599C>G p.A200G Missense 5/21 - 1
3-184019756-G-A c.601G>A p.E201K Missense 5/21 - 1
3-184019767-T-C c.612T>C p.A204= Synonymous 5/21 - 1
3-184019768-T-C c.613T>C p.C205R Missense 5/21 - 1
3-184019770-C-T c.615C>T p.C205= Synonymous 5/21 - 2
3-184019779-T-C c.624T>C p.L208= Synonymous 5/21 - 1
3-184019781-T-C c.626T>C p.M209T Missense 5/21 - 1
3-184019783-G-A c.628G>A p.E210K Missense 5/21 - 3
3-184019784-A-C c.629A>C p.E210A Missense 5/21 - 1
3-184019787-T-C c.632T>C p.I211T Missense 5/21 - 1
3-184019787-T-G c.632T>G p.I211S Missense 5/21 - 2
3-184019789-G-A c.634G>A p.E212K Missense 5/21 - 2
3-184019792-C-T c.637C>T p.Q213* Nonsense 5/21 - 1
3-184019795-G-A c.640G>A p.V214M Missense 5/21 - 1
3-184019797-G-A c.642G>A p.V214= Synonymous 5/21 - 1
3-184019804-C-T c.649C>T p.L217= Synonymous 5/21 - 3
3-184019806-G-A c.651G>A p.L217= Synonymous 5/21 - 3
3-184019806-G-C c.651G>C p.L217= Synonymous 5/21 - 2
3-184019806-G-T c.651G>T p.L217= Synonymous 5/21 - 2
3-184019813-G-A c.658G>A p.D220N Missense 5/21 - 2
3-184019814-A-C c.659A>C p.D220A Missense 5/21 - 2
3-184019819-G-A c.664G>A p.D222N Missense 5/21 - 2
3-184019820-A-G c.665A>G p.D222G Missense 5/21 - 1
3-184019825-A-C c.670A>C p.N224H Missense 5/21 - 1
3-184019826-A-T c.671A>T p.N224I Missense 5/21 - 2
3-184019828-G-T c.673G>T p.A225S Missense 5/21 - 1
3-184019829-C-T c.674C>T p.A225V Missense 5/21 - 1
3-184019832-A-G c.677A>G p.Y226C Missense 5/21 - 1
3-184019833-T-C c.678T>C p.Y226= Synonymous 5/21 - 1
3-184019834-G-A c.679G>A p.A227T Missense 5/21 - 1
3-184019835-C-A c.680C>A p.A227E Missense 5/21 - 1
3-184019842-C-A c.687C>A p.V229= Synonymous 5/21 - 1
3-184019842-C-G c.687C>G p.V229= Synonymous 5/21 - 1
3-184019842-C-T c.687C>T p.V229= Synonymous 5/21 - 1
3-184019846-C-G c.691C>G p.L231V Missense 5/21 - 1
3-184019858-AG-CC c.703_704delinsCC p.S235P Missense 5/21 - 1
3-184020099-T-C c.705-59T>C - IntronicSNV - 5/20 1
3-184020100-C-A c.705-58C>A - IntronicSNV - 5/20 1
3-184020100-C-CA c.705-57dup - IntronicInsertion - 5/20 1
3-184019858-A-C c.703A>C p.S235R Missense 5/21 - 1
3-184020158-T-A c.705T>A p.S235R Missense 6/21 - 1
3-184020158-T-G c.705T>G p.S235R Missense 6/21 - 1
3-184020159-T-C c.706T>C p.C236R Missense 6/21 - 1
3-184020161-T-C c.708T>C p.C236= Synonymous 6/21 - 1
3-184020171-G-A c.718G>A p.V240M Missense 6/21 - 4
3-184020174-C-G c.721C>G p.P241A Missense 6/21 - 1
3-184020174-C-T c.721C>T p.P241S Missense 6/21 - 1
3-184020177-G-A c.724G>A p.E242K Missense 6/21 - 1
3-184020177-G-C c.724G>C p.E242Q Missense 6/21 - 1
3-184020182-T-A c.729T>A p.P243= Synonymous 6/21 - 1
3-184020182-T-C c.729T>C p.P243= Synonymous 6/21 - 1
3-184020182-T-G c.729T>G p.P243= Synonymous 6/21 - 1
3-184020190-CA-TT c.737_738delinsTT p.S246F Missense 6/21 - 1
3-184020190-C-T c.737C>T p.S246L Missense 6/21 - 1
3-184020191-A-C c.738A>C p.S246= Synonymous 6/21 - 1
3-184020191-A-G c.738A>G p.S246= Synonymous 6/21 - 1
3-184020191-A-T c.738A>T p.S246= Synonymous 6/21 - 1
3-184020192-G-A c.739G>A p.A247T Missense 6/21 - 1
3-184020193-C-G c.740C>G p.A247G Missense 6/21 - 1
3-184020198-C-T c.745C>T p.L249= Synonymous 6/21 - 1
3-184020200-G-A c.747G>A p.L249= Synonymous 6/21 - 1
3-184020200-G-C c.747G>C p.L249= Synonymous 6/21 - 1
3-184020200-G-T c.747G>T p.L249= Synonymous 6/21 - 1
3-184020201-CGT-TGA c.748_750delinsTGA p.R250* Nonsense 6/21 - 1
3-184020201-C-T c.748C>T p.R250C Missense 6/21 - 1
3-184020202-G-A c.749G>A p.R250H Missense 6/21 - 3
3-184020202-G-C c.749G>C p.R250P Missense 6/21 - 1
3-184020202-G-T c.749G>T p.R250L Missense 6/21 - 1
3-184020206-T-C c.753T>C p.C251= Synonymous 6/21 - 2
3-184020207-G-A c.754G>A p.A252T Missense 6/21 - 2
3-184020208-C-G c.755C>G p.A252G Missense 6/21 - 1
3-184020208-C-T c.755C>T p.A252V Missense 6/21 - 1
3-184020210-C-T c.757C>T p.L253= Synonymous 6/21 - 1
3-184020212-G-A c.759G>A p.L253= Synonymous 6/21 - 1
3-184020213-G-A c.760G>A p.G254S Missense 6/21 - 1
3-184020215-T-A c.762T>A p.G254= Synonymous 6/21 - 1
3-184020215-T-C c.762T>C p.G254= Synonymous 6/21 - 1
3-184020215-T-G c.762T>G p.G254= Synonymous 6/21 - 1
3-184020216-GTG-ATC c.763_765delinsATC p.V255I Missense 6/21 - 1
3-184020217-T-C c.764T>C p.V255A Missense 6/21 - 1
3-184020219-T-C c.766T>C p.F256L Missense 6/21 - 1
3-184020221-C-A c.768C>A p.F256L Missense 6/21 - 1
3-184020221-C-G c.768C>G p.F256L Missense 6/21 - 1
3-184020222-C-T c.769C>T p.R257* Nonsense 6/21 - 1
3-184020234-C-T c.781C>T p.R261C Missense 6/21 - 2
3-184020235-G-A c.782G>A p.R261H Missense 6/21 - 3
3-184020237-T-A c.784T>A p.F262I Missense 6/21 - 1
3-184020239-C-T c.786C>T p.F262= Synonymous 6/21 - 2
3-184020241-C-T c.788C>T p.P263L Missense 6/21 - 3
3-184020243-G-A c.790G>A p.E264K Missense 6/21 - 2
3-184020246-G-A c.793G>A p.A265T Missense 6/21 - 1
3-184020247-C-T c.794C>T p.A265V Missense 6/21 - 1
3-184020250-T-C c.797T>C p.L266P Missense 6/21 - 1
3-184020249-C-T c.796C>T p.L266= Synonymous 6/21 - 1
3-184020251-G-A c.798G>A p.L266= Synonymous 6/21 - 1
3-184020251-G-C c.798G>C p.L266= Synonymous 6/21 - 1
3-184020251-G-T c.798G>T p.L266= Synonymous 6/21 - 1
3-184020255-TT-CA c.802_803delinsCA p.L268Q Missense 6/21 - 1
3-184020258-G-A c.805G>A p.A269T Missense 6/21 - 2
3-184020259-C-T c.806C>T p.A269V Missense 6/21 - 3
3-184020260-A-C c.807A>C p.A269= Synonymous 6/21 - 3
3-184020260-A-G c.807A>G p.A269= Synonymous 6/21 - 4
3-184020260-A-T c.807A>T p.A269= Synonymous 6/21 - 3
3-184020261-T-C c.808T>C p.L270= Synonymous 6/21 - 2
3-184020263-G-A c.810G>A p.L270= Synonymous 6/21 - 1
3-184020266-G-A c.813G>A p.M271I Missense 6/21 - 2
3-184020266-G-C c.813G>C p.M271I Missense 6/21 - 2
3-184020266-G-T c.813G>T p.M271I Missense 6/21 - 2
3-184020268-T-A c.815T>A p.L272H Missense 6/21 - 1
3-184020269-C-A c.816C>A p.L272= Synonymous 6/21 - 1
3-184020269-C-G c.816C>G p.L272= Synonymous 6/21 - 1
3-184020269-C-T c.816C>T p.L272= Synonymous 6/21 - 1
3-184020270-A-C c.817A>C p.N273H Missense 6/21 - 2
3-184020270-A-G c.817A>G p.N273D Missense 6/21 - 1
3-184020271-A-G c.818A>G p.N273S Missense 6/21 - 4
3-184020273-G-A c.820G>A p.D274N Missense 6/21 - 1
3-184020273-G-T c.820G>T p.D274Y Missense 6/21 - 1
3-184020274-A-T c.821A>T p.D274V Missense 6/21 - 1
3-184020277-T-C c.824T>C p.M275T Missense 6/21 - 2
3-184020279-G-A c.826G>A p.E276K Missense 6/21 - 1
3-184020286-T-C c.833T>C p.V278A Missense 6/21 - 2
3-184020291-G-A c.838G>A p.D280N Missense 6/21 - 1
3-184020293-C-T c.840C>T p.D280= Synonymous 6/21 - 1
3-184020294-A-G c.841A>G p.I281V Missense 6/21 - 1
3-184020294-AT-CA c.841_842delinsCA p.I281H Missense 6/21 - 1
3-184020295-T-C c.842T>C p.I281T Missense 6/21 - 1
3-184020298-T-G c.845T>G p.F282C Missense 6/21 - 1
3-184020300-A-G c.847A>G p.T283A Missense 6/21 - 1
3-184020301-C-A c.848C>A p.T283N Missense 6/21 - 1
3-184020302-C-A c.849C>A p.T283= Synonymous 6/21 - 1
3-184020302-C-G c.849C>G p.T283= Synonymous 6/21 - 1
3-184020302-C-T c.849C>T p.T283= Synonymous 6/21 - 1
3-184020303-TC-CT c.850_851delinsCT p.S284L Missense 6/21 - 1
3-184020304-C-T c.851C>T p.S284F Missense 6/21 - 1
3-184020307-G-T c.854G>T p.C285F Missense 6/21 - 1
3-184020309-A-G c.856A>G p.K286E Missense 6/21 - 1
3-184020311-G-A c.858G>A p.K286= Synonymous 6/21 - 1
3-184020312-G-A c.859G>A p.D287N Missense 6/21 - 1
3-184020312-G-C c.859G>C p.D287H Missense 6/21 - 1
3-184020315-G-A c.862G>A p.V288M Missense 6/21 - 1
3-184020467-G-A c.864G>A p.V288= Synonymous 7/21 - 1
3-184020467-G-C c.864G>C p.V288= Synonymous 7/21 - 1
3-184020467-G-T c.864G>T p.V288= Synonymous 7/21 - 2
3-184020469-TA-AC c.866_867delinsAC p.V289D Missense 7/21 - 1
3-184020470-A-C c.867A>C p.V289= Synonymous 7/21 - 1
3-184020470-A-G c.867A>G p.V289= Synonymous 7/21 - 1
3-184020473-A-C c.870A>C p.V290= Synonymous 7/21 - 1
3-184020474-C-T c.871C>T p.Q291* Nonsense 7/21 - 1
3-184020477-AA-GC c.874_875delinsGC p.K292A Missense 7/21 - 1
3-184020479-A-G c.876A>G p.K292= Synonymous 7/21 - 1
3-184020485-G-A c.882G>A p.M294I Missense 7/21 - 1
3-184020500-C-T c.897C>T p.G299= Synonymous 7/21 - 2
3-184020501-C-A c.898C>A p.R300= Synonymous 7/21 - 1
3-184020501-C-G c.898C>G p.R300G Missense 7/21 - 1
3-184020501-C-T c.898C>T p.R300W Missense 7/21 - 1
3-184020502-G-A c.899G>A p.R300Q Missense 7/21 - 1
3-184020504-C-A c.901C>A p.H301N Missense 7/21 - 2
3-184020511-T-G c.908T>G p.V303G Missense 7/21 - 1
3-184020516-C-A c.913C>A p.L305M Missense 7/21 - 1
3-184020517-T-A c.914T>A p.L305Q Missense 7/21 - 1
3-184020519-G-T c.916G>T p.E306* Nonsense 7/21 - 1
3-184020521-G-A c.918G>A p.E306= Synonymous 7/21 - 1
3-184020522-C-T c.919C>T p.L307= Synonymous 7/21 - 3
3-184020523-TG-AT c.920_921delinsAT p.L307H Missense 7/21 - 1
3-184020525-AG-GC c.922_923delinsGC p.S308A Missense 7/21 - 1
3-184020525-AG-TA c.922_923delinsTA p.S308Y Missense 7/21 - 1
3-184020528-G-A c.925G>A p.E309K Missense 7/21 - 1
3-184020532-GA-G c.929del p.D310Vfs*8 Frameshift 7/21 - 1
3-184020536-C-A c.933C>A p.V311= Synonymous 7/21 - 1
3-184020536-C-G c.933C>G p.V311= Synonymous 7/21 - 1
3-184020536-C-T c.933C>T p.V311= Synonymous 7/21 - 1
3-184020542-G-A c.939G>A p.E313= Synonymous 7/21 - 1
3-184020542-G-C c.939G>C p.E313D Missense 7/21 - 4
3-184020542-G-T c.939G>T p.E313D Missense 7/21 - 23
3-184020544-A-G c.941A>G p.Y314C Missense 7/21 - 1
3-184020548-G-A c.945G>A p.E315= Synonymous 7/21 - 1
3-184020548-G-C c.945G>C p.E315D Missense 7/21 - 2
3-184020548-G-T c.945G>T p.E315D Missense 7/21 - 3
3-184020549-G-A c.946G>A p.D316N Missense 7/21 - 1
3-184020549-GA-TG c.946_947delinsTG p.D316C Missense 7/21 - 1
3-184020552-C-G c.949C>G p.L317V Missense 7/21 - 1
3-184020553-T-C c.950T>C p.L317P Missense 7/21 - 1
3-184020552-C-T c.949C>T p.L317= Synonymous 7/21 - 1
3-184020554-G-A c.951G>A p.L317= Synonymous 7/21 - 1
3-184020554-G-C c.951G>C p.L317= Synonymous 7/21 - 1
3-184020554-G-T c.951G>T p.L317= Synonymous 7/21 - 1
3-184020556-C-T c.953C>T p.T318I Missense 7/21 - 2
3-184020560-G-T c.957G>T p.E319D Missense 7/21 - 1
3-184020561-A-T c.958A>T p.I320F Missense 7/21 - 1
3-184020568-C-A c.965C>A p.S322Y Missense 7/21 - 1
3-184020584-C-T c.981C>T p.N327= Synonymous 7/21 - 1
3-184020587-C-T c.984C>T p.S328= Synonymous 7/21 - 1
3-184020595-T-G c.992T>G p.L331W Missense 7/21 - 4
3-184020600-T-C c.997T>C p.L333= Synonymous 7/21 - 1
3-184020602-A-G c.999A>G p.L333= Synonymous 7/21 - 1
3-184020601-T-C c.998T>C p.L333S Missense 7/21 - 1
3-184020607-GG-AT c.1004_1005delinsAT p.R335H Missense 7/21 - 1
3-184020609-G-C c.1006G>C p.E336Q Missense 7/21 - 1
3-184020679-T-C c.1008+68T>C - IntronicSNV - 7/20 1
3-184020795-C-T c.1014C>T p.D338= Synonymous 8/21 - 1
3-184020796-A-T c.1015A>T p.I339F Missense 8/21 - 1
3-184020798-C-T c.1017C>T p.I339= Synonymous 8/21 - 1
3-184020801-G-A c.1020G>A p.M340I Missense 8/21 - 1
3-184020801-G-C c.1020G>C p.M340I Missense 8/21 - 1
3-184020801-G-T c.1020G>T p.M340I Missense 8/21 - 1
3-184020802-G-A c.1021G>A p.E341K Missense 8/21 - 1
3-184020805-C-T c.1024C>T p.P342S Missense 8/21 - 2
3-184020807-CCAAGGT-C c.1026_1031del p.K343_V344del InFrameDeletion 8/21 - 1
3-184020811-G-A c.1030G>A p.V344M Missense 8/21 - 1
3-184020813-G-A c.1032G>A p.V344= Synonymous 8/21 - 1
3-184020813-G-C c.1032G>C p.V344= Synonymous 8/21 - 1
3-184020813-G-T c.1032G>T p.V344= Synonymous 8/21 - 2
3-184020814-C-T c.1033C>T p.P345S Missense 8/21 - 1
3-184020815-C-A c.1034C>A p.P345H Missense 8/21 - 1
3-184020815-C-T c.1034C>T p.P345L Missense 8/21 - 1
3-184020822-C-T c.1041C>T p.D347= Synonymous 8/21 - 1
3-184020830-A-C c.1049A>C p.K350T Missense 8/21 - 1
3-184020831-A-C c.1050A>C p.K350N Missense 8/21 - 1
3-184020831-A-G c.1050A>G p.K350= Synonymous 8/21 - 1
3-184020831-A-T c.1050A>T p.K350N Missense 8/21 - 1
3-184020834-C-T c.1053C>T p.T351= Synonymous 8/21 - 3
3-184020838-C-A c.1057C>A p.L353I Missense 8/21 - 1
3-184020838-CT-GC c.1057_1058delinsGC p.L353A Missense 8/21 - 1
3-184020841-G-C c.1060G>C p.E354Q Missense 8/21 - 1
3-184020905-A-G c.1069+55A>G - IntronicSNV - 8/20 5
3-184021112-T-C c.1074T>C p.F358= Synonymous 9/21 - 1
3-184021114-G-T c.1076G>T p.G359V Missense 9/21 - 1
3-184021112-TG-T c.1079del p.G360Afs*11 Frameshift 9/21 - 2
3-184021117-G-C c.1079G>C p.G360A Missense 9/21 - 2
3-184021119-AG-GA c.1081_1082delinsGA p.S361D Missense 9/21 - 1
3-184021119-AG-GC c.1081_1082delinsGC p.S361A Missense 9/21 - 1
3-184021120-G-T c.1082G>T p.S361I Missense 9/21 - 1
3-184021121-T-C c.1083T>C p.S361= Synonymous 9/21 - 1
3-184021127-T-A c.1089T>A p.S363= Synonymous 9/21 - 1
3-184021127-T-C c.1089T>C p.S363= Synonymous 9/21 - 1
3-184021127-T-G c.1089T>G p.S363= Synonymous 9/21 - 1
3-184021143-C-T c.1105C>T p.R369C Missense 9/21 - 3
3-184021144-G-A c.1106G>A p.R369H Missense 9/21 - 1
3-184021147-T-C c.1109T>C p.M370T Missense 9/21 - 1
3-184021152-C-G c.1114C>G p.L372V Missense 9/21 - 1
3-184021155-G-A c.1117G>A p.A373T Missense 9/21 - 1
3-184021159-C-G c.1121C>G p.S374C Missense 9/21 - 1
3-184021159-C-T c.1121C>T p.S374F Missense 9/21 - 5
3-184021162-C-T c.1124C>T p.S375F Missense 9/21 - 8
3-184021174-G-A c.1136G>A p.G379D Missense 9/21 - 1
3-184021176-T-A c.1138T>A p.F380I Missense 9/21 - 1
3-184021185-G-A c.1147G>A p.A383T Missense 9/21 - 2
3-184021188-G-A c.1150G>A p.A384T Missense 9/21 - 1
3-184021188-G-C c.1150G>C p.A384P Missense 9/21 - 1
3-184021189-C-G c.1151C>G p.A384G Missense 9/21 - 1
3-184021190-T-A c.1152T>A p.A384= Synonymous 9/21 - 1
3-184021190-T-C c.1152T>C p.A384= Synonymous 9/21 - 2
3-184021190-T-G c.1152T>G p.A384= Synonymous 9/21 - 1
3-184021191-T-C c.1153T>C p.F385L Missense 9/21 - 1
3-184021193-T-A c.1155T>A p.F385L Missense 9/21 - 1
3-184021193-T-G c.1155T>G p.F385L Missense 9/21 - 1
3-184021193-T-C c.1155T>C p.F385= Synonymous 9/21 - 2
3-184021194-G-A c.1156G>A p.G386S Missense 9/21 - 1
3-184021196-C-A c.1158C>A p.G386= Synonymous 9/21 - 1
3-184021196-C-G c.1158C>G p.G386= Synonymous 9/21 - 1
3-184021196-C-T c.1158C>T p.G386= Synonymous 9/21 - 1
3-184021210-T-A c.1172T>A p.L391Q Missense 9/21 - 1
3-184021212-A-G c.1174A>G p.T392A Missense 9/21 - 1
3-184021215-G-A c.1177G>A p.D393N Missense 9/21 - 1
3-184021217-T-C c.1179T>C p.D393= Synonymous 9/21 - 1
3-184021221-GG-AC c.1183_1184delinsAC p.G395T Missense 9/21 - 1
3-184021222-G-A c.1184G>A p.G395D Missense 9/21 - 1
3-184021226-C-T c.1188C>T p.N396= Synonymous 9/21 - 1
3-184021230-T-A c.1192T>A p.W398R Missense 9/21 - 1
3-184021231-G-A c.1193G>A p.W398* Nonsense 9/21 - 1
3-184021244-C-A c.1206C>A p.N402K Missense 9/21 - 1
3-184021244-C-G c.1206C>G p.N402K Missense 9/21 - 1
3-184021247-G-C c.1209G>C p.K403N Missense 9/21 - 2
3-184021247-G-T c.1209G>T p.K403N Missense 9/21 - 2
3-184021250-C-T c.1212C>T p.D404= Synonymous 9/21 - 1
3-184021254-G-A c.1216G>A p.G406R Missense 9/21 - 1
3-184021435-G-A c.1221G>A p.M407I Missense 10/21 - 1
3-184021435-G-C c.1221G>C p.M407I Missense 10/21 - 1
3-184021435-G-T c.1221G>T p.M407I Missense 10/21 - 1
3-184021436-T-C c.1222T>C p.L408= Synonymous 10/21 - 1
3-184021437-TTGA-T c.1223_1225del p.L408_S409delinsC MultiAAMissense 10/21 - 1
3-184021438-G-C c.1224G>C p.L408F Missense 10/21 - 1
3-184021440-G-A c.1226G>A p.S409N Missense 10/21 - 1
3-184021443-C-T c.1229C>T p.A410V Missense 10/21 - 1
3-184021448-G-A c.1234G>A p.A412T Missense 10/21 - 1
3-184021448-G-T c.1234G>T p.A412S Missense 10/21 - 3
3-184021451-T-C c.1237T>C p.S413P Missense 10/21 - 1
3-184021452-C-T c.1238C>T p.S413F Missense 10/21 - 1
3-184021458-G-C c.1244G>C p.G415A Missense 10/21 - 1
3-184021459-G-C c.1245G>C p.G415= Synonymous 10/21 - 1
3-184021462-G-A c.1248G>A p.M416I Missense 10/21 - 1
3-184021464-TT-AG c.1250_1251delinsAG p.I417K Missense 10/21 - 1
3-184021469-C-T c.1255C>T p.L419= Synonymous 10/21 - 1
3-184021471-G-A c.1257G>A p.L419= Synonymous 10/21 - 1
3-184021485-G-T c.1271G>T p.G424V Missense 10/21 - 1
3-184021489-C-T c.1275C>T p.G425= Synonymous 10/21 - 3
3-184021496-C-G c.1282C>G p.Q428E Missense 10/21 - 1
3-184021501-T-G c.1287T>G p.I429M Missense 10/21 - 1
3-184021518-C-T c.1304C>T p.S435F Missense 10/21 - 1
3-184021524-A-C c.1310A>C p.E437A Missense 10/21 - 1
3-184021522-TGAG-T c.1311_1313del p.E437del InFrameDeletion 10/21 - 1
3-184021525-G-C c.1311G>C p.E437D Missense 10/21 - 1
3-184021525-G-T c.1311G>T p.E437D Missense 10/21 - 1
3-184021526-G-T c.1312G>T p.D438Y Missense 10/21 - 1
3-184021529-TAC-GAG c.1315_1317delinsGAG p.Y439E Missense 10/21 - 1
3-184021530-A-T c.1316A>T p.Y439F Missense 10/21 - 2
3-184021533-T-G c.1319T>G p.I440S Missense 10/21 - 3
3-184021538-G-T c.1323+1G>T - IntronicSNV - 10/20 1
3-184021626-C-T c.1323+89C>T - IntronicSNV - 10/20 1
3-184021628-A-C c.1323+91A>C - IntronicSNV - 10/20 1
3-184021651-G-A c.1324-84G>A - IntronicSNV - 10/20 1
3-184021738-G-A c.1327G>A p.G443R Missense 11/21 - 1
3-184021738-G-C c.1327G>C p.G443R Missense 11/21 - 1
3-184021745-T-G c.1334T>G p.L445R Missense 11/21 - 1
3-184021746-T-A c.1335T>A p.L445= Synonymous 11/21 - 1
3-184021746-T-C c.1335T>C p.L445= Synonymous 11/21 - 1
3-184021746-T-G c.1335T>G p.L445= Synonymous 11/21 - 1
3-184021749-T-A c.1338T>A p.L446= Synonymous 11/21 - 2
3-184021749-T-C c.1338T>C p.L446= Synonymous 11/21 - 3
3-184021749-T-G c.1338T>G p.L446= Synonymous 11/21 - 2
3-184021750-G-A c.1339G>A p.A447T Missense 11/21 - 1
3-184021750-G-C c.1339G>C p.A447P Missense 11/21 - 1
3-184021754-G-A c.1343G>A p.C448Y Missense 11/21 - 2
3-184021765-A-G c.1354A>G p.N452D Missense 11/21 - 1
3-184021772-G-A c.1361G>A p.G454E Missense 11/21 - 1
3-184021774-G-A c.1363G>A p.V455I Missense 11/21 - 1
3-184021775-T-C c.1364T>C p.V455A Missense 11/21 - 1
3-184021777-C-T c.1366C>T p.R456W Missense 11/21 - 3
3-184021778-G-A c.1367G>A p.R456Q Missense 11/21 - 1
3-184021778-G-T c.1367G>T p.R456L Missense 11/21 - 1
3-184021782-T-A c.1371T>A p.N457K Missense 11/21 - 1
3-184021782-T-G c.1371T>G p.N457K Missense 11/21 - 1
3-184021792-CCT-GAG c.1381_1383delinsGAG p.P461E Missense 11/21 - 1
3-184021793-C-G c.1382C>G p.P461R Missense 11/21 - 2
3-184021795-G-A c.1384G>A p.A462T Missense 11/21 - 1
3-184021798-C-G c.1387C>G p.L463V Missense 11/21 - 1
3-184021807-C-T c.1396C>T p.L466F Missense 11/21 - 1
3-184021813-G-A c.1402G>A p.D468N Missense 11/21 - 1
3-184021813-G-C c.1402G>C p.D468H Missense 11/21 - 1
3-184021815-C-T c.1404C>T p.D468= Synonymous 11/21 - 2
3-184021822-C-A c.1411C>A p.L471I Missense 11/21 - 4
3-184021823-T-C c.1412T>C p.L471P Missense 11/21 - 4
3-184021827-C-T c.1416C>T p.H472= Synonymous 11/21 - 1
3-184021831-AG-GA c.1420_1421delinsGA p.S474D Missense 11/21 - 1
3-184021831-AG-TT c.1420_1421delinsTT p.S474F Missense 11/21 - 2
3-184021834-A-C c.1423A>C p.N475H Missense 11/21 - 1
3-184021835-A-C c.1424A>C p.N475T Missense 11/21 - 1
3-184021838-C-CTTTTGTGAATGGCTTTGTGAATG c.1427_1428insTTTTGTGAATGGCTTTGTGAATG p.M477Ffs*9 Frameshift 11/21 - 1
3-184021840-A-AGCT c.1429_1430insGCT p.M477delinsSL MultiAAMissense 11/21 - 1
3-184021842-G-A c.1431G>A p.M477I Missense 11/21 - 1
3-184021842-G-C c.1431G>C p.M477I Missense 11/21 - 1
3-184021842-G-T c.1431G>T p.M477I Missense 11/21 - 1
3-184021848-T-A c.1437T>A p.L479= Synonymous 11/21 - 1
3-184021848-T-C c.1437T>C p.L479= Synonymous 11/21 - 1
3-184021848-T-G c.1437T>G p.L479= Synonymous 11/21 - 1
3-184021855-A-T c.1444A>T p.I482F Missense 11/21 - 1
3-184021857-C-T c.1446C>T p.I482= Synonymous 11/21 - 2
3-184021861-G-A c.1450G>A p.G484R Missense 11/21 - 1
3-184021861-G-C c.1450G>C p.G484R Missense 11/21 - 1
3-184021861-G-T c.1450G>T p.G484W Missense 11/21 - 1
3-184022018-C-T c.1452-74C>T - IntronicSNV - 11/20 1
3-184022093-C-T c.1453C>T p.L485= Synonymous 12/21 - 3
3-184022095-A-C c.1455A>C p.L485= Synonymous 12/21 - 1
3-184022095-A-G c.1455A>G p.L485= Synonymous 12/21 - 1
3-184022095-A-T c.1455A>T p.L485= Synonymous 12/21 - 1
3-184022097-G-T c.1457G>T p.G486V Missense 12/21 - 1
3-184022098-C-A c.1458C>A p.G486= Synonymous 12/21 - 1
3-184022098-C-G c.1458C>G p.G486= Synonymous 12/21 - 1
3-184022098-C-T c.1458C>T p.G486= Synonymous 12/21 - 1
3-184022099-T-G c.1459T>G p.L487V Missense 12/21 - 1
3-184022107-T-C c.1467T>C p.Y489= Synonymous 12/21 - 1
3-184022109-C-T c.1469C>T p.A490V Missense 12/21 - 1
3-184022109-CT-AG c.1469_1470inv p.A490E Missense 12/21 - 1
3-184022118-A-G c.1478A>G p.N493S Missense 12/21 - 1
3-184022120-C-T c.1480C>T p.R494C Missense 12/21 - 2
3-184022121-G-A c.1481G>A p.R494H Missense 12/21 - 1
3-184022129-G-A c.1489G>A p.V497I Missense 12/21 - 3
3-184022131-C-A c.1491C>A p.V497= Synonymous 12/21 - 1
3-184022131-C-G c.1491C>G p.V497= Synonymous 12/21 - 1
3-184022131-C-T c.1491C>T p.V497= Synonymous 12/21 - 1
3-184022132-C-T c.1492C>T p.L498= Synonymous 12/21 - 2
3-184022144-C-T c.1504C>T p.L502= Synonymous 12/21 - 1
3-184022146-G-A c.1506G>A p.L502= Synonymous 12/21 - 1
3-184022146-G-C c.1506G>C p.L502= Synonymous 12/21 - 2
3-184022146-G-T c.1506G>T p.L502= Synonymous 12/21 - 1
3-184022147-C-T c.1507C>T p.P503S Missense 12/21 - 1
3-184022156-G-A c.1516G>A p.G506R Missense 12/21 - 2
3-184022156-G-C c.1516G>C p.G506R Missense 12/21 - 2
3-184022158-A-C c.1518A>C p.G506= Synonymous 12/21 - 1
3-184022160-A-C c.1520A>C p.D507A Missense 12/21 - 2
3-184022166-A-C c.1526A>C p.K509T Missense 12/21 - 1
3-184022169-C-T c.1529C>T p.S510F Missense 12/21 - 2
3-184022170-C-G c.1530C>G p.S510= Synonymous 12/21 - 1
3-184022179-G-C c.1539G>C p.E513D Missense 12/21 - 1
3-184022179-G-T c.1539G>T p.E513D Missense 12/21 - 1
3-184022339-G-T c.1539+160G>T - IntronicSNV - 12/20 1
3-184022683-GA-G c.1539+514del - IntronicDeletion - 12/20 1
3-184023560-C-A c.1544C>A p.A515E Missense 13/21 - 1
3-184023562-G-C c.1546G>C p.G516R Missense 13/21 - 1
3-184023566-T-C c.1550T>C p.V517A Missense 13/21 - 1
3-184023576-A-C c.1560A>C p.L520F Missense 13/21 - 1
3-184023576-A-T c.1560A>T p.L520F Missense 13/21 - 1
3-184023577-G-C c.1561G>C p.A521P Missense 13/21 - 2
3-184023577-G-T c.1561G>T p.A521S Missense 13/21 - 1
3-184023580-TG-GC c.1564_1565delinsGC p.C522A Missense 13/21 - 1
3-184023587-T-C c.1571T>C p.M524T Missense 13/21 - 1
3-184023587-T-G c.1571T>G p.M524R Missense 13/21 - 1
3-184023589-A-G c.1573A>G p.I525V Missense 13/21 - 1
3-184023596-T-C c.1580T>C p.V527A Missense 13/21 - 1
3-184023607-A-T c.1591A>T p.N531Y Missense 13/21 - 1
3-184023608-A-G c.1592A>G p.N531S Missense 13/21 - 1
3-184023609-T-C c.1593T>C p.N531= Synonymous 13/21 - 1
3-184023611-G-T c.1595G>T p.G532V Missense 13/21 - 1
3-184023619-A-C c.1603A>C p.T535P Missense 13/21 - 1
3-184023620-C-T c.1604C>T p.T535I Missense 13/21 - 1
3-184023622-TC-AA c.1606_1607delinsAA p.S536N Missense 13/21 - 1
3-184023624-C-A c.1608C>A p.S536= Synonymous 13/21 - 1
3-184023624-C-G c.1608C>G p.S536= Synonymous 13/21 - 1
3-184023624-C-T c.1608C>T p.S536= Synonymous 13/21 - 1
3-184023630-C-A c.1614C>A p.I538= Synonymous 13/21 - 1
3-184023630-C-T c.1614C>T p.I538= Synonymous 13/21 - 1
3-184023639-C-A c.1623C>A p.T541= Synonymous 13/21 - 1
3-184023639-C-G c.1623C>G p.T541= Synonymous 13/21 - 1
3-184023639-C-T c.1623C>T p.T541= Synonymous 13/21 - 1
3-184023640-A-C c.1624A>C p.I542L Missense 13/21 - 2
3-184023642-C-A c.1626C>A p.I542= Synonymous 13/21 - 1
3-184023642-C-T c.1626C>T p.I542= Synonymous 13/21 - 1
3-184023646-G-A c.1630G>A p.E544K Missense 13/21 - 1
3-184023648-G-A c.1632G>A p.E544= Synonymous 13/21 - 1
3-184023655-G-A c.1639G>A p.E547K Missense 13/21 - 1
3-184023661-G-C c.1645G>C p.E549Q Missense 13/21 - 1
3-184023663-G-A c.1647G>A p.E549= Synonymous 13/21 - 2
3-184023668-A-G c.1652A>G p.K551R Missense 13/21 - 1
3-184023670-G-A c.1654G>A p.D552N Missense 13/21 - 1
3-184023674-C-T c.1658C>T p.T553I Missense 13/21 - 1
3-184023679-G-A c.1663G>A p.A555T Missense 13/21 - 1
3-184023680-C-A c.1664C>A p.A555D Missense 13/21 - 1
3-184023682-C-T c.1666C>T p.R556C Missense 13/21 - 4
3-184023694-C-A c.1678C>A p.L560I Missense 13/21 - 1
3-184023694-C-T c.1678C>T p.L560F Missense 13/21 - 1
3-184023696-TGGACTG-T c.1683_1688del p.G563_L564del InFrameDeletion 13/21 - 1
3-184023700-C-T c.1684C>T p.L562= Synonymous 13/21 - 1
3-184023702-G-A c.1686G>A p.L562= Synonymous 13/21 - 1
3-184023702-G-C c.1686G>C p.L562= Synonymous 13/21 - 2
3-184023702-G-T c.1686G>T p.L562= Synonymous 13/21 - 1
3-184023706-C-A c.1690C>A p.L564I Missense 13/21 - 1
3-184023708-C-A c.1692C>A p.L564= Synonymous 13/21 - 1
3-184023708-C-G c.1692C>G p.L564= Synonymous 13/21 - 1
3-184023708-C-T c.1692C>T p.L564= Synonymous 13/21 - 1
3-184023710-A-G c.1694A>G p.N565S Missense 13/21 - 1
3-184023712-C-T c.1696C>T p.H566Y Missense 13/21 - 1
3-184023716-CTGG-C c.1700_1702del p.L567_G568delinsR SpliceDonorDeletion 13/21 - 1
3-184023748-G-A c.1702+30G>A - IntronicSNV - 13/20 1
3-184023755-G-A c.1702+37G>A - IntronicSNV - 13/20 1
3-184023843-G-A c.1704G>A p.G568= Synonymous 14/21 - 1
3-184023843-G-C c.1704G>C p.G568= Synonymous 14/21 - 1
3-184023843-G-T c.1704G>T p.G568= Synonymous 14/21 - 1
3-184023845-A-C c.1706A>C p.K569T Missense 14/21 - 4
3-184023845-A-G c.1706A>G p.K569R Missense 14/21 - 1
3-184023858-C-A c.1719C>A p.I573= Synonymous 14/21 - 2
3-184023858-C-T c.1719C>T p.I573= Synonymous 14/21 - 4
3-184023859-G-A c.1720G>A p.E574K Missense 14/21 - 2
3-184023863-C-T c.1724C>T p.A575V Missense 14/21 - 1
3-184023882-G-A c.1743G>A p.E581= Synonymous 14/21 - 1
3-184023885-T-G c.1746T>G p.V582= Synonymous 14/21 - 1
3-184023892-G-A c.1753G>A p.E585K Missense 14/21 - 1
3-184023893-A-T c.1754A>T p.E585V Missense 14/21 - 1
3-184023895-C-T c.1756C>T p.P586S Missense 14/21 - 1
3-184023898-T-C c.1759T>C p.F587L Missense 14/21 - 1
3-184023900-C-A c.1761C>A p.F587L Missense 14/21 - 1
3-184023900-C-G c.1761C>G p.F587L Missense 14/21 - 1
3-184023899-T-C c.1760T>C p.F587S Missense 14/21 - 1
3-184023900-C-T c.1761C>T p.F587= Synonymous 14/21 - 1
3-184023901-C-T c.1762C>T p.R588C Missense 14/21 - 2
3-184023902-G-A c.1763G>A p.R588H Missense 14/21 - 1
3-184023905-G-C c.1766G>C p.S589T Missense 14/21 - 1
3-184023906-T-C c.1767T>C p.S589= Synonymous 14/21 - 1
3-184023909-T-G c.1770T>G p.F590L Missense 14/21 - 1
3-184023910-G-A c.1771G>A p.A591T Missense 14/21 - 1
3-184023915-C-T c.1776C>T p.N592= Synonymous 14/21 - 2
3-184023918-A-G c.1779A>G p.T593= Synonymous 14/21 - 1
3-184023920-T-C c.1781T>C p.L594P Missense 14/21 - 1
3-184023928-G-A c.1789G>A p.V597M Missense 14/21 - 1
3-184023934-G-T c.1795G>T p.A599S Missense 14/21 - 1
3-184023935-C-T c.1796C>T p.A599V Missense 14/21 - 1
3-184023938-A-T c.1799A>T p.Y600F Missense 14/21 - 1
3-184023938-A-AT c.1800dup p.A601Cfs*17 Frameshift 14/21 - 1
3-184023942-A-C c.1803A>C p.A601= Synonymous 14/21 - 2
3-184023942-A-G c.1803A>G p.A601= Synonymous 14/21 - 2
3-184023942-A-T c.1803A>T p.A601= Synonymous 14/21 - 2
3-184023947-T-C c.1804+4T>C - IntronicSNV - 14/20 1
3-184024133-C-A c.1805-5C>A - IntronicSNV - 14/20 2
3-184024133-C-T c.1805-5C>T - IntronicSNV - 14/20 2
3-184024134-G-A c.1805-4G>A - IntronicSNV - 14/20 1
3-184024138-G-C c.1805G>C p.G602A Missense 15/21 - 1
3-184024143-G-C c.1810G>C p.G604R Missense 15/21 - 1
3-184024150-T-C c.1817T>C p.V606A Missense 15/21 - 1
3-184024151-G-A c.1818G>A p.V606= Synonymous 15/21 - 2
3-184024160-G-C c.1827G>C p.V609= Synonymous 15/21 - 1
3-184024170-C-T c.1837C>T p.L613F Missense 15/21 - 2
3-184024172-C-A c.1839C>A p.L613= Synonymous 15/21 - 1
3-184024172-C-G c.1839C>G p.L613= Synonymous 15/21 - 1
3-184024172-C-T c.1839C>T p.L613= Synonymous 15/21 - 1
3-184024179-T-A c.1846T>A p.C616S Missense 15/21 - 6
3-184024180-G-C c.1847G>C p.C616S Missense 15/21 - 2
3-184024182-A-T c.1849A>T p.S617C Missense 15/21 - 1
3-184024185-G-A c.1852G>A p.E618K Missense 15/21 - 2
3-184024196-C-A c.1863C>A p.D621E Missense 15/21 - 5
3-184024196-C-G c.1863C>G p.D621E Missense 15/21 - 5
3-184024197-T-C c.1864T>C p.S622P Missense 15/21 - 1
3-184024199-C-A c.1866C>A p.S622= Synonymous 15/21 - 1
3-184024201-A-G c.1868A>G p.K623R Missense 15/21 - 5
3-184024202-A-C c.1869A>C p.K623N Missense 15/21 - 1
3-184024202-A-T c.1869A>T p.K623N Missense 15/21 - 1
3-184024205-G-A c.1872G>A p.E624= Synonymous 15/21 - 1
3-184024211-G-A c.1878G>A p.E626= Synonymous 15/21 - 1
3-184024221-G-A c.1888G>A p.D630N Missense 15/21 - 2
3-184024225-A-C c.1892A>C p.K631T Missense 15/21 - 2
3-184024234-A-G c.1901A>G p.K634R Missense 15/21 - 1
3-184024241-C-A c.1908C>A p.D636E Missense 15/21 - 2
3-184024241-C-G c.1908C>G p.D636E Missense 15/21 - 2
3-184024247-C-A c.1914C>A p.D638E Missense 15/21 - 3
3-184024247-C-G c.1914C>G p.D638E Missense 15/21 - 3
3-184024256-A-C c.1923A>C p.E641D Missense 15/21 - 1
3-184024258-C-T c.1925C>T p.A642V Missense 15/21 - 4
3-184024260-C-G c.1927C>G p.P643A Missense 15/21 - 1
3-184024263-G-A c.1930G>A p.A644T Missense 15/21 - 1
3-184024268-C-T c.1935C>T p.D645= Synonymous 15/21 - 1
3-184024276-C-A c.1943C>A p.A648E Missense 15/21 - 1
3-184024276-C-G c.1943C>G p.A648G Missense 15/21 - 1
3-184024276-C-T c.1943C>T p.A648V Missense 15/21 - 1
3-184024278-C-T c.1945C>T p.H649Y Missense 15/21 - 1
3-184024540-G-T c.1952G>T p.G651V Missense 16/21 - 1
3-184024544-G-C c.1956G>C p.V652= Synonymous 16/21 - 1
3-184024546-C-T c.1958C>T p.A653V Missense 16/21 - 1
3-184024547-T-TG c.1960dup p.V654Gfs*63 Frameshift 16/21 - 1
3-184024548-G-A c.1960G>A p.V654I Missense 16/21 - 1
3-184024548-G-T c.1960G>T p.V654F Missense 16/21 - 1
3-184024549-T-G c.1961T>G p.V654G Missense 16/21 - 1
3-184024551-C-G c.1963C>G p.L655V Missense 16/21 - 2
3-184024551-C-T c.1963C>T p.L655= Synonymous 16/21 - 6
3-184024553-G-A c.1965G>A p.L655= Synonymous 16/21 - 2
3-184024553-G-C c.1965G>C p.L655= Synonymous 16/21 - 2
3-184024553-G-T c.1965G>T p.L655= Synonymous 16/21 - 2
3-184024556-G-T c.1968G>T p.G656= Synonymous 16/21 - 1
3-184024560-TG-T c.1972del p.A658Pfs*22 Frameshift 16/21 - 1
3-184024561-C-A c.1973C>A p.A658D Missense 16/21 - 1
3-184024566-A-G c.1978A>G p.I660V Missense 16/21 - 1
3-184024572-A-G c.1984A>G p.M662V Missense 16/21 - 3
3-184024578-G-A c.1990G>A p.E664K Missense 16/21 - 2
3-184024581-G-T c.1993G>T p.E665* Nonsense 16/21 - 1
3-184024583-G-C c.1995G>C p.E665D Missense 16/21 - 1
3-184024587-G-A c.1999G>A p.G667S Missense 16/21 - 1
3-184024588-G-A c.2000G>A p.G667D Missense 16/21 - 3
3-184024591-C-T c.2003C>T p.A668V Missense 16/21 - 2
3-184024593-G-A c.2005G>A p.E669K Missense 16/21 - 1
3-184024596-AT-GC c.2008_2009delinsGC p.M670A Missense 16/21 - 1
3-184024597-T-A c.2009T>A p.M670K Missense 16/21 - 1
3-184024598-G-A c.2010G>A p.M670I Missense 16/21 - 1
3-184024606-G-A c.2018G>A p.R673Q Missense 16/21 - 1
3-184024609-C-T c.2021C>T p.T674I Missense 16/21 - 2
3-184024615-G-A c.2027G>A p.G676D Missense 16/21 - 2
3-184024618-A-G c.2030A>G p.H677R Missense 16/21 - 1
3-184024623-G-C c.2034+1G>C - IntronicSNV - 16/20 1
3-184025069-C-T c.2035-76C>T - IntronicSNV - 16/20 1
3-184025145-C-T c.2035C>T p.L679= Synonymous 17/21 - 2
3-184025147-G-A c.2037G>A p.L679= Synonymous 17/21 - 2
3-184025147-G-C c.2037G>C p.L679= Synonymous 17/21 - 2
3-184025147-G-T c.2037G>T p.L679= Synonymous 17/21 - 2
3-184025148-AGA-TGT c.2038_2040delinsTGT p.R680C Missense 17/21 - 1
3-184025148-AG-CA c.2038_2039delinsCA p.R680Q Missense 17/21 - 1
3-184025149-G-C c.2039G>C p.R680T Missense 17/21 - 2
3-184025151-T-C c.2041T>C p.Y681H Missense 17/21 - 1
3-184025153-T-C c.2043T>C p.Y681= Synonymous 17/21 - 1
3-184025155-G-A c.2045G>A p.G682E Missense 17/21 - 4
3-184025159-G-A c.2049G>A p.E683= Synonymous 17/21 - 1
3-184025165-A-C c.2055A>C p.T685= Synonymous 17/21 - 1
3-184025165-A-G c.2055A>G p.T685= Synonymous 17/21 - 1
3-184025165-A-T c.2055A>T p.T685= Synonymous 17/21 - 1
3-184025166-C-G c.2056C>G p.L686V Missense 17/21 - 1
3-184025168-C-T c.2058C>T p.L686= Synonymous 17/21 - 1
3-184025170-G-A c.2060G>A p.R687Q Missense 17/21 - 2
3-184025191-T-C c.2081T>C p.L694P Missense 17/21 - 1
3-184025196-C-T c.2086C>T p.L696F Missense 17/21 - 1
3-184025197-T-G c.2087T>G p.L696R Missense 17/21 - 3
3-184025198-C-A c.2088C>A p.L696= Synonymous 17/21 - 1
3-184025198-C-G c.2088C>G p.L696= Synonymous 17/21 - 1
3-184025198-C-T c.2088C>T p.L696= Synonymous 17/21 - 1
3-184025205-GT-G c.2098del p.S700Qfs*11 Frameshift 17/21 - 1
3-184025217-C-T c.2107C>T p.R703* Nonsense 17/21 - 2
3-184025218-G-A c.2108G>A p.R703Q Missense 17/21 - 3
3-184025222-C-A c.2112C>A p.L704= Synonymous 17/21 - 1
3-184025222-C-G c.2112C>G p.L704= Synonymous 17/21 - 1
3-184025222-C-T c.2112C>T p.L704= Synonymous 17/21 - 1
3-184025225-C-T c.2115C>T p.N705= Synonymous 17/21 - 3
3-184025236-C-A c.2126C>A p.T709N Missense 17/21 - 1
3-184025236-CC-AG c.2126_2127delinsAG p.T709K Missense 17/21 - 1
3-184025236-C-T c.2126C>T p.T709I Missense 17/21 - 3
3-184025245-A-G c.2135A>G p.K712R Missense 17/21 - 1
3-184025247-T-C c.2137T>C p.F713L Missense 17/21 - 3
3-184025249-C-G c.2139C>G p.F713L Missense 17/21 - 3
3-184025249-C-A c.2139C>A p.F713L Missense 17/21 - 4
3-184025251-C-T c.2141C>T p.S714F Missense 17/21 - 2
3-184025262-G-A c.2152G>A p.D718N Missense 17/21 - 2
3-184025263-A-T c.2153A>T p.D718V Missense 17/21 - 1
3-184025268-G-C c.2158G>C p.E720Q Missense 17/21 - 2
3-184025276-C-T c.2166C>T p.S722= Synonymous 17/21 - 1
3-184025280-A-G c.2170A>G p.N724D Missense 17/21 - 3
3-184025280-A-T c.2170A>T p.N724Y Missense 17/21 - 3
3-184025288-T-C c.2178T>C p.I726= Synonymous 17/21 - 1
3-184025294-C-T c.2184C>T p.A728= Synonymous 17/21 - 1
3-184025295-A-G c.2185A>G p.M729V Missense 17/21 - 2
3-184025306-G-A c.2196G>A p.V732= Synonymous 17/21 - 2
3-184025310-AGTG-A c.2203+1_2203+3del - SpliceDonorDeletion - 17/20 1
3-184025335-G-A c.2203+22G>A - IntronicSNV - 17/20 1
3-184025335-G-C c.2203+22G>C - IntronicSNV - 17/20 1
3-184025404-A-G c.2206A>G p.T736A Missense 18/21 - 1
3-184025416-C-A c.2218C>A p.R740S Missense 18/21 - 2
3-184025416-CGT-TGG c.2218_2220delinsTGG p.R740W Missense 18/21 - 1
3-184025417-G-A c.2219G>A p.R740H Missense 18/21 - 2
3-184025418-T-A c.2220T>A p.R740= Synonymous 18/21 - 1
3-184025418-T-C c.2220T>C p.R740= Synonymous 18/21 - 1
3-184025418-T-G c.2220T>G p.R740= Synonymous 18/21 - 1
3-184025422-G-A c.2224G>A p.A742T Missense 18/21 - 1
3-184025426-C-T c.2228C>T p.A743V Missense 18/21 - 1
3-184025431-C-T c.2233C>T p.L745= Synonymous 18/21 - 1
3-184025431-CT-TG c.2233_2234delinsTG p.L745W Missense 18/21 - 1
3-184025433-G-A c.2235G>A p.L745= Synonymous 18/21 - 1
3-184025434-C-G c.2236C>G p.R746G Missense 18/21 - 1
3-184025434-C-T c.2236C>T p.R746C Missense 18/21 - 3
3-184025435-G-A c.2237G>A p.R746H Missense 18/21 - 6
3-184025440-T-G c.2242T>G p.L748V Missense 18/21 - 1
3-184025443-G-A c.2245G>A p.A749T Missense 18/21 - 2
3-184025456-C-A c.2258C>A p.A753D Missense 18/21 - 1
3-184025460-G-A c.2262G>A p.K754= Synonymous 18/21 - 1
3-184025465-C-A c.2267C>A p.P756Q Missense 18/21 - 1
3-184025465-CA-C c.2270del p.N757Tfs*12 Frameshift 18/21 - 1
3-184025470-A-C c.2272A>C p.N758H Missense 18/21 - 1
3-184025473-C-G c.2275C>G p.L759V Missense 18/21 - 2
3-184025481-G-A c.2283G>A p.M761I Missense 18/21 - 4
3-184025481-G-C c.2283G>C p.M761I Missense 18/21 - 3
3-184025481-G-T c.2283G>T p.M761I Missense 18/21 - 3
3-184025484-G-A c.2286G>A p.V762= Synonymous 18/21 - 1
3-184025484-G-C c.2286G>C p.V762= Synonymous 18/21 - 1
3-184025484-G-T c.2286G>T p.V762= Synonymous 18/21 - 1
3-184025485-C-T c.2287C>T p.R763C Missense 18/21 - 4
3-184025486-GC-AA c.2288_2289delinsAA p.R763Q Missense 18/21 - 1
3-184025488-T-C c.2290T>C p.L764= Synonymous 18/21 - 1
3-184025490-G-A c.2292G>A p.L764= Synonymous 18/21 - 1
3-184025489-T-C c.2291T>C p.L764S Missense 18/21 - 1
3-184025491-G-A c.2293G>A p.A765T Missense 18/21 - 2
3-184025491-GCA-G c.2296_2297del p.Q766Gfs*68 Frameshift 18/21 - 1
3-184025496-G-A c.2298G>A p.Q766= Synonymous 18/21 - 1
3-184025679-G-A c.2300G>A p.G767D Missense 19/21 - 3
3-184025699-G-A c.2320G>A p.G774S Missense 19/21 - 1
3-184025702-A-G c.2323A>G p.T775A Missense 19/21 - 1
3-184025702-A-T c.2323A>T p.T775S Missense 19/21 - 1
3-184025703-C-G c.2324C>G p.T775S Missense 19/21 - 1
3-184025703-C-T c.2324C>T p.T775I Missense 19/21 - 1
3-184025708-A-G c.2329A>G p.T777A Missense 19/21 - 5
3-184025711-C-G c.2332C>G p.L778V Missense 19/21 - 1
3-184025712-T-G c.2333T>G p.L778R Missense 19/21 - 1
3-184025713-C-G c.2334C>G p.L778= Synonymous 19/21 - 1
3-184025713-C-T c.2334C>T p.L778= Synonymous 19/21 - 1
3-184025715-G-A c.2336G>A p.C779Y Missense 19/21 - 1
3-184025716-C-T c.2337C>T p.C779= Synonymous 19/21 - 1
3-184025720-T-C c.2341T>C p.Y781H Missense 19/21 - 1
3-184025724-A-G c.2345A>G p.H782R Missense 19/21 - 2
3-184025727-G-T c.2348G>T p.S783I Missense 19/21 - 1
3-184025728-C-T c.2349C>T p.S783= Synonymous 19/21 - 2
3-184025729-G-A c.2350G>A p.D784N Missense 19/21 - 1
3-184025732-C-G c.2353C>G p.R785G Missense 19/21 - 1
3-184025732-C-T c.2353C>T p.R785W Missense 19/21 - 3
3-184025733-G-A c.2354G>A p.R785Q Missense 19/21 - 3
3-184025739-T-C c.2360T>C p.L787P Missense 19/21 - 1
3-184025740-T-C c.2361T>C p.L787= Synonymous 19/21 - 1
3-184025742-T-G c.2363T>G p.M788R Missense 19/21 - 1
3-184025744-A-T c.2365A>T p.S789C Missense 19/21 - 1
3-184025746-C-T c.2367C>T p.S789= Synonymous 19/21 - 1
3-184025747-C-T c.2368C>T p.Q790* Nonsense 19/21 - 1
3-184025754-C-T c.2375C>T p.A792V Missense 19/21 - 2
3-184025755-C-A c.2376C>A p.A792= Synonymous 19/21 - 1
3-184025755-C-G c.2376C>G p.A792= Synonymous 19/21 - 1
3-184025755-C-T c.2376C>T p.A792= Synonymous 19/21 - 1
3-184025756-G-A c.2377G>A p.V793M Missense 19/21 - 1
3-184025763-G-A c.2384G>A p.G795E Missense 19/21 - 3
3-184025777-C-T c.2398C>T p.L800F Missense 19/21 - 1
3-184025781-T-A c.2402T>A p.V801D Missense 19/21 - 1
3-184025788-C-T c.2409C>T p.F803= Synonymous 19/21 - 1
3-184025789-C-A c.2410C>A p.L804M Missense 19/21 - 1
3-184025789-C-T c.2410C>T p.L804= Synonymous 19/21 - 3
3-184025795-G-T c.2416G>T p.V806F Missense 19/21 - 1
3-184025798-C-T c.2419C>T p.R807* Nonsense 19/21 - 3
3-184025799-G-A c.2420G>A p.R807Q Missense 19/21 - 5
3-184025799-G-C c.2420G>C p.R807P Missense 19/21 - 1
3-184026239-A-G c.2428A>G p.I810V Missense 20/21 - 2
3-184026252-C-T c.2441C>T p.S814L Missense 20/21 - 1
3-184026256-C-G c.2445C>G p.H815Q Missense 20/21 - 1
3-184026278-G-A c.2467G>A p.A823T Missense 20/21 - 1
3-184026281-G-A c.2470G>A p.A824T Missense 20/21 - 1
3-184026284-A-G c.2473A>G p.M825V Missense 20/21 - 1
3-184026289-G-A c.2478G>A p.Q826= Synonymous 20/21 - 1
3-184026292-C-A c.2481C>A p.P827= Synonymous 20/21 - 2
3-184026292-C-G c.2481C>G p.P827= Synonymous 20/21 - 2
3-184026292-C-T c.2481C>T p.P827= Synonymous 20/21 - 3
3-184026293-CGA-AGC c.2482_2484delinsAGC p.R828S Missense 20/21 - 2
3-184026293-CGA-TGT c.2482_2484delinsTGT p.R828C Missense 20/21 - 1
3-184026294-G-A c.2483G>A p.R828Q Missense 20/21 - 2
3-184026302-G-A c.2491G>A p.V831I Missense 20/21 - 1
3-184026302-GTT-ATG c.2491_2493delinsATG p.V831M Missense 20/21 - 1
3-184026305-A-G c.2494A>G p.T832A Missense 20/21 - 1
3-184026306-C-T c.2495C>T p.T832M Missense 20/21 - 6
3-184026307-G-T c.2496G>T p.T832= Synonymous 20/21 - 1
3-184026316-G-A c.2505G>A p.E835= Synonymous 20/21 - 1
3-184026320-C-T c.2509C>T p.L837= Synonymous 20/21 - 1
3-184026322-G-A c.2511G>A p.L837= Synonymous 20/21 - 1
3-184026322-G-C c.2511G>C p.L837= Synonymous 20/21 - 1
3-184026322-G-T c.2511G>T p.L837= Synonymous 20/21 - 1
3-184026324-G-A c.2513G>A p.R838Q Missense 20/21 - 2
3-184026326-C-A c.2515C>A p.P839T Missense 20/21 - 1
3-184026331-GC-G c.2522del p.P841Qfs*70 Frameshift 20/21 - 1
3-184026345-G-A c.2534G>A p.R845H Missense 20/21 - 2
3-184026351-G-A c.2540G>A p.G847D Missense 20/21 - 1
3-184026354-A-G c.2543A>G p.Q848R Missense 20/21 - 1
3-184026496-G-A c.2545G>A p.A849T Missense 21/21 - 1
3-184026504-T-A c.2553T>A p.D851E Missense 21/21 - 1
3-184026504-T-G c.2553T>G p.D851E Missense 21/21 - 1
3-184026506-T-C c.2555T>C p.V852A Missense 21/21 - 2
3-184026507-G-A c.2556G>A p.V852= Synonymous 21/21 - 2
3-184026507-G-C c.2556G>C p.V852= Synonymous 21/21 - 2
3-184026507-G-T c.2556G>T p.V852= Synonymous 21/21 - 2
3-184026513-C-A c.2562C>A p.G854= Synonymous 21/21 - 2
3-184026513-C-G c.2562C>G p.G854= Synonymous 21/21 - 1
3-184026513-C-T c.2562C>T p.G854= Synonymous 21/21 - 3
3-184026521-G-C c.2570G>C p.G857A Missense 21/21 - 2
3-184026522-C-G c.2571C>G p.G857= Synonymous 21/21 - 1
3-184026525-G-A c.2574G>A p.K858= Synonymous 21/21 - 1
3-184026525-G-C c.2574G>C p.K858N Missense 21/21 - 2
3-184026525-G-T c.2574G>T p.K858N Missense 21/21 - 1
3-184026528-G-A c.2577G>A p.P859= Synonymous 21/21 - 5
3-184026528-G-C c.2577G>C p.P859= Synonymous 21/21 - 3
3-184026528-G-T c.2577G>T p.P859= Synonymous 21/21 - 3
3-184026538-A-G c.2587A>G p.T863A Missense 21/21 - 2
3-184026546-C-T c.2595C>T p.F865= Synonymous 21/21 - 3
3-184026551-C-T c.2600C>T p.T867M Missense 21/21 - 2
3-184026568-T-C c.2617T>C p.L873= Synonymous 21/21 - 1
3-184026580-G-A c.2629G>A p.G877R Missense 21/21 - 2
3-184026587-G-A c.2636G>A p.R879Q Missense 21/21 - 1
3-184026594-A-G c.2643A>G p.E881= Synonymous 21/21 - 1
3-184026599-C-A c.2648C>A p.A883D Missense 21/21 - 1
3-184026599-C-T c.2648C>T p.A883V Missense 21/21 - 4
3-184026613-C-A c.2662C>A p.L888I Missense 21/21 - 2
3-184026613-C-T c.2662C>T p.L888F Missense 21/21 - 2
3-184026621-T-C c.2670T>C p.V890= Synonymous 21/21 - 1
3-184026622-A-T c.2671A>T p.T891S Missense 21/21 - 1
3-184026623-C-G c.2672C>G p.T891S Missense 21/21 - 1
3-184026631-C-T c.2680C>T p.L894= Synonymous 21/21 - 3
3-184026636-A-G c.2685A>G p.E895= Synonymous 21/21 - 1
3-184026638-G-C c.2687G>C p.G896A Missense 21/21 - 1
3-184026649-C-A c.2698C>A p.L900I Missense 21/21 - 1
3-184026652-C-T c.2701C>T p.R901W Missense 21/21 - 5
3-184026653-G-A c.2702G>A p.R901Q Missense 21/21 - 1
3-184026668-A-G c.2717A>G p.Y906C Missense 21/21 - 3
3-184026670-G-T c.2719G>T p.D907Y Missense 21/21 - 1
3-184026703-C-T c.*25C>T - 3-UTRSNV 21/21 - 13
3-184026723-C-A c.*45C>A - 3-UTRSNV 21/21 - 1