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 |