Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
18-33767460-G-A | c.-43G>A | - | IntergenicSNV | 1/15 | - | 1 |
18-33767460-G-T | c.-43G>T | - | IntergenicSNV | 1/15 | - | 1 |
18-33767479-G-A | c.-24G>A | - | IntergenicSNV | 1/15 | - | 10 |
18-33767479-G-C | c.-24G>C | - | IntergenicSNV | 1/15 | - | 10 |
18-33767498-G-A | c.-5G>A | - | 5-UTRSNV | 1/15 | - | 3 |
18-33767503-A-G | c.1A>G | p.M1? | Missense | 1/15 | - | 1 |
18-33767504-T-G | c.2T>G | p.M1? | Missense | 1/15 | - | 1 |
18-33767506-G-A | c.4G>A | p.A2T | Missense | 1/15 | - | 1 |
18-33767507-C-T | c.5C>T | p.A2V | Missense | 1/15 | - | 1 |
18-33767512-G-A | c.10G>A | p.A4T | Missense | 1/15 | - | 1 |
18-33767517-G-A | c.15G>A | p.A5= | Synonymous | 1/15 | - | 1 |
18-33767517-G-C | c.15G>C | p.A5= | Synonymous | 1/15 | - | 1 |
18-33767517-G-T | c.15G>T | p.A5= | Synonymous | 1/15 | - | 1 |
18-33767519-C-T | c.17C>T | p.A6V | Missense | 1/15 | - | 1 |
18-33767540-G-C | c.38G>C | p.W13S | Missense | 1/15 | - | 1 |
18-33767542-A-T | c.40A>T | p.T14S | Missense | 1/15 | - | 2 |
18-33767543-C-G | c.41C>G | p.T14S | Missense | 1/15 | - | 1 |
18-33767544-C-A | c.42C>A | p.T14= | Synonymous | 1/15 | - | 1 |
18-33767544-C-G | c.42C>G | p.T14= | Synonymous | 1/15 | - | 1 |
18-33767544-C-T | c.42C>T | p.T14= | Synonymous | 1/15 | - | 1 |
18-33767548-GCG-TAT | c.46_48delinsTAT | p.A16Y | Missense | 1/15 | - | 1 |
18-33767548-GC-TA | c.46_47delinsTA | p.A16* | Nonsense | 1/15 | - | 1 |
18-33767554-TC-AA | c.52_53delinsAA | p.S18N | Missense | 1/15 | - | 1 |
18-33767554-T-G | c.52T>G | p.S18A | Missense | 1/15 | - | 1 |
18-33767555-C-G | c.53C>G | p.S18C | Missense | 1/15 | - | 2 |
18-33767557-C-T | c.55C>T | p.R19W | Missense | 1/15 | - | 2 |
18-33767560-G-A | c.58G>A | p.D20N | Missense | 1/15 | - | 2 |
18-33767565-G-A | c.63G>A | p.P21= | Synonymous | 1/15 | - | 2 |
18-33767565-G-C | c.63G>C | p.P21= | Synonymous | 1/15 | - | 1 |
18-33767565-G-T | c.63G>T | p.P21= | Synonymous | 1/15 | - | 1 |
18-33767566-A-C | c.64A>C | p.S22R | Missense | 1/15 | - | 5 |
18-33767568-C-A | c.66C>A | p.S22R | Missense | 1/15 | - | 14 |
18-33767568-C-G | c.66C>G | p.S22R | Missense | 1/15 | - | 5 |
18-33767568-C-T | c.66C>T | p.S22= | Synonymous | 1/15 | - | 2 |
18-33767569-G-A | c.67G>A | p.A23T | Missense | 1/15 | - | 1 |
18-33767569-G-T | c.67G>T | p.A23S | Missense | 1/15 | - | 1 |
18-33767576-G-A | c.74G>A | p.R25Q | Missense | 1/15 | - | 1 |
18-33767583-C-T | c.81C>T | p.A27= | Synonymous | 1/15 | - | 1 |
18-33767586-C-T | c.84C>T | p.Y28= | Synonymous | 1/15 | - | 1 |
18-33767588-GC-AG | c.86_87delinsAG | p.G29E | Missense | 1/15 | - | 1 |
18-33767589-C-A | c.87C>A | p.G29= | Synonymous | 1/15 | - | 1 |
18-33767591-A-G | c.89A>G | p.Y30C | Missense | 1/15 | - | 1 |
18-33767594-G-T | c.92G>T | p.G31V | Missense | 1/15 | - | 1 |
18-33767597-C-T | c.95C>T | p.P32L | Missense | 1/15 | - | 1 |
18-33767598-G-C | c.96G>C | p.P32= | Synonymous | 1/15 | - | 1 |
18-33767600-G-C | c.98G>C | p.G33A | Missense | 1/15 | - | 1 |
18-33767602-AG-TT | c.100_101delinsTT | p.S34F | Missense | 1/15 | - | 1 |
18-33767605-CTG-TTT | c.103_105delinsTTT | p.L35F | Missense | 1/15 | - | 1 |
18-33767608-C-T | c.106C>T | p.R36C | Missense | 1/15 | - | 1 |
18-33767609-G-A | c.107G>A | p.R36H | Missense | 1/15 | - | 1 |
18-33767618-G-A | c.116G>A | p.R39Q | Missense | 1/15 | - | 1 |
18-33767618-GG-AT | c.116_117delinsAT | p.R39H | Missense | 1/15 | - | 1 |
18-33767620-G-A | c.118G>A | p.A40T | Missense | 1/15 | - | 1 |
18-33767622-G-T | c.120G>T | p.A40= | Synonymous | 1/15 | - | 2 |
18-33767623-C-T | c.121C>T | p.R41C | Missense | 1/15 | - | 1 |
18-33767626-G-T | c.124G>T | p.E42* | Nonsense | 1/15 | - | 2 |
18-33767631-C-T | c.129C>T | p.F43= | Synonymous | 1/15 | - | 1 |
18-33767632-AG-TT | c.130_131delinsTT | p.S44F | Missense | 1/15 | - | 1 |
18-33767635-C-T | c.133C>T | p.R45C | Missense | 1/15 | - | 1 |
18-33767636-GC-AA | c.134_135delinsAA | p.R45Q | Missense | 1/15 | - | 1 |
18-33767639-T-C | c.137T>C | p.L46P | Missense | 1/15 | - | 1 |
18-33767641-G-A | c.139G>A | p.A47T | Missense | 1/15 | - | 1 |
18-33767655-C-A | c.142+11C>A | - | IntronicSNV | - | 1/14 | 1 |
18-33767749-G-A | c.142+105G>A | - | IntronicSNV | - | 1/14 | 4 |
18-33775026-T-G | c.143-194T>G | - | IntronicSNV | - | 1/14 | 2 |
18-33775220-G-A | c.143G>A | p.G48E | Missense | 2/15 | - | 5 |
18-33775222-A-G | c.145A>G | p.T49A | Missense | 2/15 | - | 1 |
18-33775227-C-G | c.150C>G | p.V50= | Synonymous | 2/15 | - | 1 |
18-33775229-A-G | c.152A>G | p.Y51C | Missense | 2/15 | - | 2 |
18-33775237-C-A | c.160C>A | p.H54N | Missense | 2/15 | - | 4 |
18-33775240-G-T | c.163G>T | p.A55S | Missense | 2/15 | - | 1 |
18-33775243-G-C | c.166G>C | p.G56R | Missense | 2/15 | - | 3 |
18-33775244-G-A | c.167G>A | p.G56D | Missense | 2/15 | - | 1 |
18-33775246-G-A | c.169G>A | p.A57T | Missense | 2/15 | - | 1 |
18-33775246-G-C | c.169G>C | p.A57P | Missense | 2/15 | - | 2 |
18-33775247-C-T | c.170C>T | p.A57V | Missense | 2/15 | - | 1 |
18-33775249-A-T | c.172A>T | p.T58S | Missense | 2/15 | - | 3 |
18-33775250-CC-TG | c.173_174delinsTG | p.T58M | Missense | 2/15 | - | 1 |
18-33775250-C-G | c.173C>G | p.T58S | Missense | 2/15 | - | 1 |
18-33775270-C-T | c.193C>T | p.L65F | Missense | 2/15 | - | 5 |
18-33775272-C-A | c.195C>A | p.L65= | Synonymous | 2/15 | - | 1 |
18-33775272-C-G | c.195C>G | p.L65= | Synonymous | 2/15 | - | 1 |
18-33775272-C-T | c.195C>T | p.L65= | Synonymous | 2/15 | - | 2 |
18-33775273-G-A | c.196G>A | p.E66K | Missense | 2/15 | - | 1 |
18-33775282-A-G | c.205A>G | p.T69A | Missense | 2/15 | - | 1 |
18-33775283-C-T | c.206C>T | p.T69I | Missense | 2/15 | - | 2 |
18-33775286-G-A | c.209G>A | p.S70N | Missense | 2/15 | - | 1 |
18-33775287-T-C | c.210T>C | p.S70= | Synonymous | 2/15 | - | 1 |
18-33775291-C-T | c.214C>T | p.L72F | Missense | 2/15 | - | 2 |
18-33775292-T-C | c.215T>C | p.L72P | Missense | 2/15 | - | 1 |
18-33775293-C-A | c.216C>A | p.L72= | Synonymous | 2/15 | - | 2 |
18-33775293-C-G | c.216C>G | p.L72= | Synonymous | 2/15 | - | 2 |
18-33775293-C-T | c.216C>T | p.L72= | Synonymous | 2/15 | - | 2 |
18-33775294-A-C | c.217A>C | p.M73L | Missense | 2/15 | - | 2 |
18-33775294-A-G | c.217A>G | p.M73V | Missense | 2/15 | - | 1 |
18-33775294-A-T | c.217A>T | p.M73L | Missense | 2/15 | - | 1 |
18-33775295-T-C | c.218T>C | p.M73T | Missense | 2/15 | - | 1 |
18-33775296-G-T | c.219G>T | p.M73I | Missense | 2/15 | - | 1 |
18-33775307-A-G | c.230A>G | p.Y77C | Missense | 2/15 | - | 1 |
18-33775307-A-T | c.230A>T | p.Y77F | Missense | 2/15 | - | 1 |
18-33775309-G-T | c.232G>T | p.G78C | Missense | 2/15 | - | 1 |
18-33775371-G-A | c.232+62G>A | - | IntronicSNV | - | 2/14 | 4 |
18-33775379-C-T | c.232+70C>T | - | IntronicSNV | - | 2/14 | 4 |
18-33775455-C-A | c.232+146C>A | - | IntronicSNV | - | 2/14 | 2 |
18-33778468-C-A | c.233-185C>A | - | IntronicSNV | - | 2/14 | 2 |
18-33778606-G-A | c.233-47G>A | - | IntronicSNV | - | 2/14 | 4 |
18-33778607-C-A | c.233-46C>A | - | IntronicSNV | - | 2/14 | 8 |
18-33778651-A-G | c.233-2A>G | - | IntronicSNV | - | 2/14 | 1 |
18-33778659-C-G | c.239C>G | p.P80R | Missense | 3/15 | - | 1 |
18-33778659-C-T | c.239C>T | p.P80L | Missense | 3/15 | - | 1 |
18-33778662-A-G | c.242A>G | p.H81R | Missense | 3/15 | - | 1 |
18-33778665-G-A | c.245G>A | p.S82N | Missense | 3/15 | - | 3 |
18-33778667-C-G | c.247C>G | p.Q83E | Missense | 3/15 | - | 2 |
18-33778667-C-T | c.247C>T | p.Q83* | Nonsense | 3/15 | - | 1 |
18-33778675-C-T | c.255C>T | p.I85= | Synonymous | 3/15 | - | 1 |
18-33778677-G-C | c.257G>C | p.S86T | Missense | 3/15 | - | 1 |
18-33778679-AG-CT | c.259_260inv | p.S87L | Missense | 3/15 | - | 1 |
18-33778694-G-A | c.274G>A | p.D92N | Missense | 3/15 | - | 1 |
18-33778694-G-C | c.274G>C | p.D92H | Missense | 3/15 | - | 1 |
18-33778695-A-C | c.275A>C | p.D92A | Missense | 3/15 | - | 1 |
18-33778698-CTG-C | c.281_282del | p.V94Gfs*90 | Frameshift | 3/15 | - | 1 |
18-33778703-G-T | c.283G>T | p.E95* | Nonsense | 3/15 | - | 1 |
18-33778712-C-A | c.292C>A | p.R98S | Missense | 3/15 | - | 1 |
18-33778712-CGC-TGA | c.292_294delinsTGA | p.R98* | Nonsense | 3/15 | - | 1 |
18-33778712-C-T | c.292C>T | p.R98C | Missense | 3/15 | - | 4 |
18-33778713-G-A | c.293G>A | p.R98H | Missense | 3/15 | - | 4 |
18-33778715-T-A | c.295T>A | p.Y99N | Missense | 3/15 | - | 1 |
18-33778720-G-A | c.299+1G>A | - | IntronicSNV | - | 3/14 | 1 |
18-33778720-G-C | c.299+1G>C | - | IntronicSNV | - | 3/14 | 1 |
18-33779126-T-C | c.299+407T>C | - | IntronicSNV | - | 3/14 | 1 |
18-33779491-C-G | c.300-155C>G | - | IntronicSNV | - | 3/14 | 1 |
18-33779491-C-T | c.300-155C>T | - | IntronicSNV | - | 3/14 | 1 |
18-33779604-G-A | c.300-42G>A | - | IntronicSNV | - | 3/14 | 1 |
18-33779645-G-C | c.300-1G>C | - | IntronicSNV | - | 3/14 | 1 |
18-33779649-C-A | c.303C>A | p.I101= | Synonymous | 4/15 | - | 1 |
18-33779649-C-T | c.303C>T | p.I101= | Synonymous | 4/15 | - | 4 |
18-33779651-T-A | c.305T>A | p.L102Q | Missense | 4/15 | - | 2 |
18-33779654-C-A | c.308C>A | p.A103E | Missense | 4/15 | - | 1 |
18-33779654-C-G | c.308C>G | p.A103G | Missense | 4/15 | - | 1 |
18-33779654-C-T | c.308C>T | p.A103V | Missense | 4/15 | - | 2 |
18-33779655-G-A | c.309G>A | p.A103= | Synonymous | 4/15 | - | 1 |
18-33779657-A-C | c.311A>C | p.H104P | Missense | 4/15 | - | 1 |
18-33779658-C-A | c.312C>A | p.H104Q | Missense | 4/15 | - | 1 |
18-33779658-C-G | c.312C>G | p.H104Q | Missense | 4/15 | - | 1 |
18-33779662-C-T | c.316C>T | p.H106Y | Missense | 4/15 | - | 1 |
18-33779665-A-T | c.319A>T | p.T107S | Missense | 4/15 | - | 2 |
18-33779666-C-G | c.320C>G | p.T107S | Missense | 4/15 | - | 1 |
18-33779667-C-A | c.321C>A | p.T107= | Synonymous | 4/15 | - | 1 |
18-33779672-C-T | c.326C>T | p.A109V | Missense | 4/15 | - | 1 |
18-33779678-A-G | c.332A>G | p.D111G | Missense | 4/15 | - | 2 |
18-33779679-C-A | c.333C>A | p.D111E | Missense | 4/15 | - | 1 |
18-33779679-C-G | c.333C>G | p.D111E | Missense | 4/15 | - | 1 |
18-33779681-A-T | c.335A>T | p.Y112F | Missense | 4/15 | - | 2 |
18-33779682-C-T | c.336C>T | p.Y112= | Synonymous | 4/15 | - | 1 |
18-33779683-A-G | c.337A>G | p.T113A | Missense | 4/15 | - | 1 |
18-33779684-C-T | c.338C>T | p.T113I | Missense | 4/15 | - | 1 |
18-33779687-T-C | c.341T>C | p.V114A | Missense | 4/15 | - | 1 |
18-33779689-A-T | c.343A>T | p.I115F | Missense | 4/15 | - | 1 |
18-33779693-T-C | c.347T>C | p.F116S | Missense | 4/15 | - | 1 |
18-33779694-C-T | c.348C>T | p.F116= | Synonymous | 4/15 | - | 1 |
18-33779698-G-T | c.352G>T | p.A118S | Missense | 4/15 | - | 1 |
18-33779698-GC-G | c.354del | p.S120Afs*36 | Frameshift | 4/15 | - | 1 |
18-33779701-G-A | c.355G>A | p.G119R | Missense | 4/15 | - | 1 |
18-33779701-G-C | c.355G>C | p.G119R | Missense | 4/15 | - | 1 |
18-33779705-G-A | c.359G>A | p.S120N | Missense | 4/15 | - | 19 |
18-33779706-C-T | c.360C>T | p.S120= | Synonymous | 4/15 | - | 1 |
18-33779708-C-T | c.362C>T | p.T121M | Missense | 4/15 | - | 3 |
18-33779709-G-A | c.363G>A | p.T121= | Synonymous | 4/15 | - | 4 |
18-33779709-G-C | c.363G>C | p.T121= | Synonymous | 4/15 | - | 1 |
18-33779709-G-T | c.363G>T | p.T121= | Synonymous | 4/15 | - | 1 |
18-33779711-C-T | c.365C>T | p.A122V | Missense | 4/15 | - | 1 |
18-33779713-G-A | c.367G>A | p.A123T | Missense | 4/15 | - | 2 |
18-33779713-G-T | c.367G>T | p.A123S | Missense | 4/15 | - | 2 |
18-33779716-C-A | c.370C>A | p.L124I | Missense | 4/15 | - | 1 |
18-33779717-T-C | c.371T>C | p.L124P | Missense | 4/15 | - | 1 |
18-33779722-C-T | c.376C>T | p.L126= | Synonymous | 4/15 | - | 1 |
18-33779722-CT-TC | c.376_377delinsTC | p.L126S | Missense | 4/15 | - | 1 |
18-33779725-G-A | c.379G>A | p.V127M | Missense | 4/15 | - | 1 |
18-33779729-GC-G | c.383del | p.A128Efs*28 | Frameshift | 4/15 | - | 1 |
18-33779732-A-C | c.386A>C | p.E129A | Missense | 4/15 | - | 1 |
18-33779734-G-T | c.388G>T | p.A130S | Missense | 4/15 | - | 1 |
18-33779741-C-T | c.395C>T | p.P132L | Missense | 4/15 | - | 1 |
18-33779747-T-C | c.401T>C | p.V134A | Missense | 4/15 | - | 1 |
18-33779749-T-C | c.403T>C | p.S135P | Missense | 4/15 | - | 3 |
18-33779750-C-G | c.404C>G | p.S135C | Missense | 4/15 | - | 1 |
18-33779754-G-T | c.408G>T | p.Q136H | Missense | 4/15 | - | 1 |
18-33779755-G-A | c.409G>A | p.G137S | Missense | 4/15 | - | 1 |
18-33779756-G-A | c.410G>A | p.G137D | Missense | 4/15 | - | 2 |
18-33779756-G-T | c.410G>T | p.G137V | Missense | 4/15 | - | 2 |
18-33779759-C-T | c.413C>T | p.P138L | Missense | 4/15 | - | 2 |
18-33779761-G-T | c.415G>T | p.E139* | Nonsense | 4/15 | - | 1 |
18-33779770-G-A | c.424G>A | p.G142R | Missense | 4/15 | - | 1 |
18-33779771-G-A | c.425G>A | p.G142E | Missense | 4/15 | - | 1 |
18-33779772-G-A | c.426G>A | p.G142= | Synonymous | 4/15 | - | 1 |
18-33779772-G-C | c.426G>C | p.G142= | Synonymous | 4/15 | - | 1 |
18-33779772-G-T | c.426G>T | p.G142= | Synonymous | 4/15 | - | 1 |
18-33779773-AG-TT | c.427_428delinsTT | p.S143F | Missense | 4/15 | - | 1 |
18-33779773-A-AGT | c.428_429dup | p.R144Vfs*13 | Frameshift | 4/15 | - | 1 |
18-33779774-G-A | c.428G>A | p.S143N | Missense | 4/15 | - | 1 |
18-33779776-CGC-TGG | c.430_432delinsTGG | p.R144W | Missense | 4/15 | - | 1 |
18-33779776-C-T | c.430C>T | p.R144C | Missense | 4/15 | - | 2 |
18-33779777-G-A | c.431G>A | p.R144H | Missense | 4/15 | - | 1 |
18-33779782-T-C | c.436T>C | p.C146R | Missense | 4/15 | - | 1 |
18-33779783-G-A | c.437G>A | p.C146Y | Missense | 4/15 | - | 1 |
18-33779786-A-G | c.440A>G | p.Y147C | Missense | 4/15 | - | 2 |
18-33779785-TACCTC-T | c.443_447del | p.L148Rfs*35 | Frameshift | 4/15 | - | 1 |
18-33779794-G-A | c.448G>A | p.D150N | Missense | 4/15 | - | 1 |
18-33779794-G-C | c.448G>C | p.D150H | Missense | 4/15 | - | 1 |
18-33779794-G-T | c.448G>T | p.D150Y | Missense | 4/15 | - | 1 |
18-33779797-A-G | c.451A>G | p.S151G | Missense | 4/15 | - | 1 |
18-33779800-C-G | c.454C>G | p.H152D | Missense | 4/15 | - | 1 |
18-33779803-A-C | c.457A>C | p.T153P | Missense | 4/15 | - | 1 |
18-33779804-C-G | c.458C>G | p.T153S | Missense | 4/15 | - | 1 |
18-33779806-T-A | c.460T>A | p.S154T | Missense | 4/15 | - | 1 |
18-33779807-C-T | c.461C>T | p.S154F | Missense | 4/15 | - | 2 |
18-33779809-G-A | c.463G>A | p.V155I | Missense | 4/15 | - | 1 |
18-33779809-G-C | c.463G>C | p.V155L | Missense | 4/15 | - | 1 |
18-33779812-G-A | c.466G>A | p.V156M | Missense | 4/15 | - | 5 |
18-33779812-G-C | c.466G>C | p.V156L | Missense | 4/15 | - | 1 |
18-33779813-T-C | c.467T>C | p.V156A | Missense | 4/15 | - | 1 |
18-33779813-T-TAAGAGGATTTTGCCAACTGGAACTCGTTCCCAC | c.467_468insAAGAGGATTTTGCCAACTGGAACTCGTTCCCAC | p.V156_G157insRGFCQLELVPT | InFrameInsertion | 4/15 | - | 1 |
18-33779817-T-C | c.471T>C | p.G157= | Synonymous | 4/15 | - | 1 |
18-33779817-T-TA | c.472dup | p.M158Nfs*27 | Frameshift | 4/15 | - | 1 |
18-33779820-G-A | c.474G>A | p.M158I | Missense | 4/15 | - | 2 |
18-33779820-G-C | c.474G>C | p.M158I | Missense | 4/15 | - | 1 |
18-33779821-C-A | c.475C>A | p.R159= | Synonymous | 4/15 | - | 21 |
18-33779821-C-G | c.475C>G | p.R159G | Missense | 4/15 | - | 5 |
18-33779821-C-T | c.475C>T | p.R159W | Missense | 4/15 | - | 6 |
18-33779826-C-T | c.480C>T | p.N160= | Synonymous | 4/15 | - | 1 |
18-33779833-A-G | c.487A>G | p.M163V | Missense | 4/15 | - | 1 |
18-33779834-T-C | c.488T>C | p.M163T | Missense | 4/15 | - | 3 |
18-33779845-G-A | c.499G>A | p.V167I | Missense | 4/15 | - | 2 |
18-33779852-C-T | c.506C>T | p.S169F | Missense | 4/15 | - | 4 |
18-33779855-C-T | c.509C>T | p.T170I | Missense | 4/15 | - | 30 |
18-33779858-C-G | c.512C>G | p.P171R | Missense | 4/15 | - | 1 |
18-33779858-C-T | c.512C>T | p.P171L | Missense | 4/15 | - | 5 |
18-33779859-G-A | c.513G>A | p.P171= | Synonymous | 4/15 | - | 1 |
18-33779859-G-C | c.513G>C | p.P171= | Synonymous | 4/15 | - | 1 |
18-33779859-G-T | c.513G>T | p.P171= | Synonymous | 4/15 | - | 1 |
18-33779863-A-T | c.517A>T | p.R173W | Missense | 4/15 | - | 1 |
18-33779866-C-T | c.520C>T | p.P174S | Missense | 4/15 | - | 1 |
18-33779872-G-C | c.526G>C | p.D176H | Missense | 4/15 | - | 1 |
18-33779872-G-T | c.526G>T | p.D176Y | Missense | 4/15 | - | 1 |
18-33779873-A-C | c.527A>C | p.D176A | Missense | 4/15 | - | 1 |
18-33779878-T-A | c.532T>A | p.W178R | Missense | 4/15 | - | 1 |
18-33779878-T-C | c.532T>C | p.W178R | Missense | 4/15 | - | 1 |
18-33779882-C-T | c.536C>T | p.S179F | Missense | 4/15 | - | 2 |
18-33779887-G-T | c.541G>T | p.E181* | Nonsense | 4/15 | - | 1 |
18-33779894-G-A | c.548G>A | p.R183H | Missense | 4/15 | - | 2 |
18-33779894-GT-AA | c.548_549delinsAA | p.R183Q | Missense | 4/15 | - | 1 |
18-33779896-A-G | c.550A>G | p.S184G | Missense | 4/15 | - | 35 |
18-33779897-G-A | c.551G>A | p.S184N | Missense | 4/15 | - | 2 |
18-33779905-G-A | c.559G>A | p.A187T | Missense | 4/15 | - | 1 |
18-33779914-C-A | c.568C>A | p.P190T | Missense | 4/15 | - | 1 |
18-33779914-C-G | c.568C>G | p.P190A | Missense | 4/15 | - | 1 |
18-33779914-C-T | c.568C>T | p.P190S | Missense | 4/15 | - | 1 |
18-33779917-G-T | c.571G>T | p.D191Y | Missense | 4/15 | - | 2 |
18-33779926-C-T | c.580C>T | p.L194= | Synonymous | 4/15 | - | 2 |
18-33779928-G-A | c.582G>A | p.L194= | Synonymous | 4/15 | - | 1 |
18-33779928-G-C | c.582G>C | p.L194= | Synonymous | 4/15 | - | 1 |
18-33779928-G-T | c.582G>T | p.L194= | Synonymous | 4/15 | - | 1 |
18-33779929-C-T | c.583C>T | p.P195S | Missense | 4/15 | - | 1 |
18-33779930-C-T | c.584C>T | p.P195L | Missense | 4/15 | - | 1 |
18-33779931-G-A | c.585G>A | p.P195= | Synonymous | 4/15 | - | 3 |
18-33779931-G-C | c.585G>C | p.P195= | Synonymous | 4/15 | - | 2 |
18-33779931-G-T | c.585G>T | p.P195= | Synonymous | 4/15 | - | 2 |
18-33779935-C-T | c.589C>T | p.L197F | Missense | 4/15 | - | 2 |
18-33779937-C-A | c.591C>A | p.L197= | Synonymous | 4/15 | - | 1 |
18-33779937-C-G | c.591C>G | p.L197= | Synonymous | 4/15 | - | 1 |
18-33779937-C-T | c.591C>T | p.L197= | Synonymous | 4/15 | - | 1 |
18-33779938-T-G | c.592T>G | p.F198V | Missense | 4/15 | - | 1 |
18-33779945-A-G | c.599A>G | p.Y200C | Missense | 4/15 | - | 2 |
18-33779945-A-T | c.599A>T | p.Y200F | Missense | 4/15 | - | 1 |
18-33779949-A-C | c.603A>C | p.P201= | Synonymous | 4/15 | - | 2 |
18-33779949-A-G | c.603A>G | p.P201= | Synonymous | 4/15 | - | 2 |
18-33779949-A-T | c.603A>T | p.P201= | Synonymous | 4/15 | - | 2 |
18-33779953-C-T | c.607C>T | p.Q203* | Nonsense | 4/15 | - | 3 |
18-33779961-C-A | c.615C>A | p.N205K | Missense | 4/15 | - | 2 |
18-33779963-T-C | c.617T>C | p.F206S | Missense | 4/15 | - | 1 |
18-33779968-G-A | c.622G>A | p.G208R | Missense | 4/15 | - | 2 |
18-33779969-G-A | c.623G>A | p.G208E | Missense | 4/15 | - | 4 |
18-33779979-C-T | c.633C>T | p.Y211= | Synonymous | 4/15 | - | 1 |
18-33779980-C-A | c.634C>A | p.P212T | Missense | 4/15 | - | 1 |
18-33779985-G-A | c.639G>A | p.L213= | Synonymous | 4/15 | - | 2 |
18-33779986-TC-T | c.642del | p.W215Gfs*2 | Frameshift | 4/15 | - | 1 |
18-33779989-T-A | c.643T>A | p.W215R | Missense | 4/15 | - | 1 |
18-33779989-T-C | c.643T>C | p.W215R | Missense | 4/15 | - | 1 |
18-33779995-G-T | c.649G>T | p.E217* | Nonsense | 4/15 | - | 1 |
18-33779998-G-A | c.652G>A | p.E218K | Missense | 4/15 | - | 2 |
18-33779999-A-T | c.653A>T | p.E218V | Missense | 4/15 | - | 1 |
18-33780001-G-A | c.655G>A | p.V219I | Missense | 4/15 | - | 3 |
18-33780001-G-T | c.655G>T | p.V219F | Missense | 4/15 | - | 1 |
18-33780004-A-G | c.658A>G | p.K220E | Missense | 4/15 | - | 1 |
18-33780010-G-A | c.664G>A | p.G222R | Missense | 4/15 | - | 1 |
18-33780010-G-C | c.664G>C | p.G222R | Missense | 4/15 | - | 1 |
18-33780013-C-A | c.667C>A | p.R223= | Synonymous | 4/15 | - | 2 |
18-33780013-C-T | c.667C>T | p.R223W | Missense | 4/15 | - | 2 |
18-33780015-G-A | c.669G>A | p.R223= | Synonymous | 4/15 | - | 2 |
18-33780015-G-C | c.669G>C | p.R223= | Synonymous | 4/15 | - | 2 |
18-33780015-G-T | c.669G>T | p.R223= | Synonymous | 4/15 | - | 2 |
18-33780014-G-A | c.668G>A | p.R223Q | Missense | 4/15 | - | 4 |
18-33780018-TGC-T | c.672_673del | p.H225Pfs*39 | Frameshift | 4/15 | - | 1 |
18-33780020-A-AAG | c.674_675insAG | p.H225Qfs*4 | Frameshift | 4/15 | - | 1 |
18-33780020-A-G | c.674A>G | p.H225R | Missense | 4/15 | - | 33 |
18-33780020-A-T | c.674A>T | p.H225L | Missense | 4/15 | - | 33 |
18-33780021-C-G | c.675C>G | p.H225Q | Missense | 4/15 | - | 1 |
18-33780021-C-T | c.675C>T | p.H225= | Synonymous | 4/15 | - | 1 |
18-33780025-G-A | c.679G>A | p.V227M | Missense | 4/15 | - | 1 |
18-33780027-G-A | c.681G>A | p.V227= | Synonymous | 4/15 | - | 1 |
18-33780027-G-C | c.681G>C | p.V227= | Synonymous | 4/15 | - | 1 |
18-33780027-G-T | c.681G>T | p.V227= | Synonymous | 4/15 | - | 1 |
18-33780028-A-T | c.682A>T | p.S228C | Missense | 4/15 | - | 2 |
18-33780032-C-T | c.686C>T | p.T229M | Missense | 4/15 | - | 7 |
18-33780033-G-A | c.687G>A | p.T229= | Synonymous | 4/15 | - | 1 |
18-33780034-C-A | c.688C>A | p.P230T | Missense | 4/15 | - | 1 |
18-33780035-C-A | c.689C>A | p.P230H | Missense | 4/15 | - | 1 |
18-33780037-G-A | c.691G>A | p.G231R | Missense | 4/15 | - | 1 |
18-33780037-G-C | c.691G>C | p.G231R | Missense | 4/15 | - | 1 |
18-33780038-G-A | c.692G>A | p.G231E | Missense | 4/15 | - | 2 |
18-33780038-G-T | c.692G>T | p.G231V | Missense | 4/15 | - | 1 |
18-33780042-G-T | c.696G>T | p.K232N | Missense | 4/15 | - | 1 |
18-33780049-G-A | c.703G>A | p.V235M | Missense | 4/15 | - | 1 |
18-33780058-G-A | c.712G>A | p.D238N | Missense | 4/15 | - | 4 |
18-33780059-A-C | c.713A>C | p.D238A | Missense | 4/15 | - | 1 |
18-33780059-A-G | c.713A>G | p.D238G | Missense | 4/15 | - | 1 |
18-33780060-T-A | c.714T>A | p.D238E | Missense | 4/15 | - | 1 |
18-33780060-T-G | c.714T>G | p.D238E | Missense | 4/15 | - | 1 |
18-33780061-G-A | c.715G>A | p.A239T | Missense | 4/15 | - | 2 |
18-33780062-C-T | c.716C>T | p.A239V | Missense | 4/15 | - | 3 |
18-33780069-C-T | c.723C>T | p.S241= | Synonymous | 4/15 | - | 1 |
18-33780072-C-T | c.726C>T | p.Y242= | Synonymous | 4/15 | - | 1 |
18-33780074-T-A | c.728T>A | p.V243E | Missense | 4/15 | - | 1 |
18-33780074-T-C | c.728T>C | p.V243A | Missense | 4/15 | - | 1 |
18-33780076-AG-TT | c.730_731delinsTT | p.S244F | Missense | 4/15 | - | 1 |
18-33780077-G-A | c.731G>A | p.S244N | Missense | 4/15 | - | 2 |
18-33780079-A-G | c.733A>G | p.T245A | Missense | 4/15 | - | 1 |
18-33780080-CC-TG | c.734_735delinsTG | p.T245M | Missense | 4/15 | - | 1 |
18-33780084-G-A | c.738G>A | p.S246= | Synonymous | 4/15 | - | 1 |
18-33780085-C-G | c.739C>G | p.P247A | Missense | 4/15 | - | 1 |
18-33780084-GC-G | c.740del | p.P247Lfs*39 | Frameshift | 4/15 | - | 1 |
18-33780086-C-T | c.740C>T | p.P247L | Missense | 4/15 | - | 1 |
18-33780089-T-C | c.743T>C | p.L248S | Missense | 4/15 | - | 1 |
18-33780092-A-G | c.746A>G | p.D249G | Missense | 4/15 | - | 1 |
18-33780094-C-G | c.748C>G | p.L250V | Missense | 4/15 | - | 1 |
18-33780095-T-C | c.749T>C | p.L250P | Missense | 4/15 | - | 2 |
18-33780095-T-G | c.749T>G | p.L250R | Missense | 4/15 | - | 2 |
18-33780096-G-T | c.750G>T | p.L250= | Synonymous | 4/15 | - | 1 |
18-33780100-G-A | c.754G>A | p.A252T | Missense | 4/15 | - | 1 |
18-33780103-C-T | c.757C>T | p.H253Y | Missense | 4/15 | - | 2 |
18-33780106-C-A | c.760C>A | p.Q254K | Missense | 4/15 | - | 1 |
18-33780106-C-T | c.760C>T | p.Q254* | Nonsense | 4/15 | - | 3 |
18-33780111-C-A | c.765C>A | p.A255= | Synonymous | 4/15 | - | 1 |
18-33780111-C-G | c.765C>G | p.A255= | Synonymous | 4/15 | - | 1 |
18-33780111-C-T | c.765C>T | p.A255= | Synonymous | 4/15 | - | 3 |
18-33780112-G-A | c.766G>A | p.D256N | Missense | 4/15 | - | 1 |
18-33780115-T-C | c.769T>C | p.F257L | Missense | 4/15 | - | 1 |
18-33780117-T-A | c.771T>A | p.F257L | Missense | 4/15 | - | 1 |
18-33780117-T-G | c.771T>G | p.F257L | Missense | 4/15 | - | 1 |
18-33780119-T-C | c.773T>C | p.V258A | Missense | 4/15 | - | 1 |
18-33780121-C-T | c.775C>T | p.P259S | Missense | 4/15 | - | 5 |
18-33780126-C-A | c.780C>A | p.I260= | Synonymous | 4/15 | - | 1 |
18-33780126-C-T | c.780C>T | p.I260= | Synonymous | 4/15 | - | 1 |
18-33780128-C-T | c.782C>T | p.S261F | Missense | 4/15 | - | 3 |
18-33780132-C-A | c.786C>A | p.F262L | Missense | 4/15 | - | 2 |
18-33780132-C-G | c.786C>G | p.F262L | Missense | 4/15 | - | 1 |
18-33780132-C-T | c.786C>T | p.F262= | Synonymous | 4/15 | - | 1 |
18-33780134-A-G | c.788A>G | p.Y263C | Missense | 4/15 | - | 2 |
18-33780136-A-G | c.790A>G | p.K264E | Missense | 4/15 | - | 2 |
18-33780141-C-A | c.795C>A | p.I265= | Synonymous | 4/15 | - | 1 |
18-33780141-C-T | c.795C>T | p.I265= | Synonymous | 4/15 | - | 1 |
18-33780143-T-C | c.797T>C | p.F266S | Missense | 4/15 | - | 1 |
18-33780144-C-A | c.798C>A | p.F266L | Missense | 4/15 | - | 1 |
18-33780144-C-T | c.798C>T | p.F266= | Synonymous | 4/15 | - | 3 |
18-33780145-G-A | c.799G>A | p.G267R | Missense | 4/15 | - | 3 |
18-33780145-G-C | c.799G>C | p.G267R | Missense | 4/15 | - | 1 |
18-33780151-C-T | c.805C>T | p.P269S | Missense | 4/15 | - | 3 |
18-33780155-C-T | c.809C>T | p.T270I | Missense | 4/15 | - | 1 |
18-33780158-G-T | c.812G>T | p.G271V | Missense | 4/15 | - | 1 |
18-33780163-G-C | c.817G>C | p.G273R | Missense | 4/15 | - | 1 |
18-33780164-G-A | c.818G>A | p.G273D | Missense | 4/15 | - | 1 |
18-33780166-G-A | c.820G>A | p.A274T | Missense | 4/15 | - | 1 |
18-33780170-T-A | c.824T>A | p.L275Q | Missense | 4/15 | - | 1 |
18-33780184-C-T | c.838C>T | p.R280C | Missense | 4/15 | - | 7 |
18-33780187-G-A | c.841G>A | p.A281T | Missense | 4/15 | - | 1 |
18-33780188-C-G | c.842C>G | p.A281G | Missense | 4/15 | - | 1 |
18-33780188-C-T | c.842C>T | p.A281V | Missense | 4/15 | - | 2 |
18-33780190-G-A | c.844G>A | p.A282T | Missense | 4/15 | - | 1 |
18-33780188-CGGCTCCTCTACTGAGGAAGACCTACTTTGGAGGA-C | c.845_878del | p.A282Gfs*7 | Frameshift | 4/15 | - | 1 |
18-33780194-C-A | c.848C>A | p.P283H | Missense | 4/15 | - | 1 |
18-33780194-C-G | c.848C>G | p.P283R | Missense | 4/15 | - | 1 |
18-33780194-C-T | c.848C>T | p.P283L | Missense | 4/15 | - | 1 |
18-33780196-C-T | c.850C>T | p.L284= | Synonymous | 4/15 | - | 1 |
18-33780202-AG-TA | c.856_857delinsTA | p.R286* | Nonsense | 4/15 | - | 1 |
18-33780212-A-G | c.866A>G | p.Y289C | Missense | 4/15 | - | 1 |
18-33780213-C-T | c.867C>T | p.Y289= | Synonymous | 4/15 | - | 1 |
18-33780218-G-A | c.872G>A | p.G291E | Missense | 4/15 | - | 1 |
18-33780218-G-T | c.872G>T | p.G291V | Missense | 4/15 | - | 1 |
18-33780219-A-T | c.873A>T | p.G291= | Synonymous | 4/15 | - | 1 |
18-33780221-G-A | c.875G>A | p.G292E | Missense | 4/15 | - | 1 |
18-33780227-C-T | c.881C>T | p.T294I | Missense | 4/15 | - | 3 |
18-33780230-C-A | c.884C>A | p.A295D | Missense | 4/15 | - | 4 |
18-33780230-C-T | c.884C>T | p.A295V | Missense | 4/15 | - | 1 |
18-33780235-G-T | c.889G>T | p.A297S | Missense | 4/15 | - | 1 |
18-33780236-C-A | c.890C>A | p.A297E | Missense | 4/15 | - | 1 |
18-33780236-C-T | c.890C>T | p.A297V | Missense | 4/15 | - | 1 |
18-33780237-G-C | c.891G>C | p.A297= | Synonymous | 4/15 | - | 1 |
18-33780240-C-A | c.894C>A | p.Y298* | Nonsense | 4/15 | - | 2 |
18-33780240-C-G | c.894C>G | p.Y298* | Nonsense | 4/15 | - | 1 |
18-33780241-C-T | c.895C>T | p.L299= | Synonymous | 4/15 | - | 1 |
18-33780243-A-C | c.897A>C | p.L299= | Synonymous | 4/15 | - | 1 |
18-33780243-A-G | c.897A>G | p.L299= | Synonymous | 4/15 | - | 1 |
18-33780243-A-T | c.897A>T | p.L299= | Synonymous | 4/15 | - | 1 |
18-33780244-G-T | c.898G>T | p.A300S | Missense | 4/15 | - | 1 |
18-33780254-A-G | c.908A>G | p.D303G | Missense | 4/15 | - | 1 |
18-33780261-C-T | c.915C>T | p.Y305= | Synonymous | 4/15 | - | 1 |
18-33780264-C-T | c.918C>T | p.I306= | Synonymous | 4/15 | - | 1 |
18-33780267-G-A | c.921G>A | p.P307= | Synonymous | 4/15 | - | 4 |
18-33780267-G-C | c.921G>C | p.P307= | Synonymous | 4/15 | - | 2 |
18-33780267-G-T | c.921G>T | p.P307= | Synonymous | 4/15 | - | 2 |
18-33780268-A-G | c.922A>G | p.R308G | Missense | 4/15 | - | 1 |
18-33780273-G-A | c.927G>A | p.Q309= | Synonymous | 4/15 | - | 1 |
18-33780273-G-T | c.927G>T | p.Q309H | Missense | 4/15 | - | 1 |
18-33780275-C-T | c.929C>T | p.S310L | Missense | 4/15 | - | 4 |
18-33780283-C-T | c.937C>T | p.Q313* | Nonsense | 4/15 | - | 1 |
18-33780288-G-A | c.941+1G>A | - | IntronicSNV | - | 4/14 | 1 |
18-33780289-T-C | c.941+2T>C | - | IntronicSNV | - | 4/14 | 1 |
18-33782827-G-A | c.942-249G>A | - | IntronicSNV | - | 4/14 | 1 |
18-33782827-G-C | c.942-249G>C | - | IntronicSNV | - | 4/14 | 1 |
18-33783030-T-C | c.942-46T>C | - | IntronicSNV | - | 4/14 | 8 |
18-33783075-G-A | c.942-1G>A | - | IntronicSNV | - | 4/14 | 1 |
18-33783075-G-T | c.942-1G>T | - | IntronicSNV | - | 4/14 | 1 |
18-33783076-G-T | c.942G>T | p.R314S | Missense | 5/15 | - | 2 |
18-33783078-T-C | c.944T>C | p.F315S | Missense | 5/15 | - | 2 |
18-33783080-G-C | c.946G>C | p.E316Q | Missense | 5/15 | - | 1 |
18-33783083-G-T | c.949G>T | p.D317Y | Missense | 5/15 | - | 4 |
18-33783087-G-A | c.953G>A | p.G318D | Missense | 5/15 | - | 1 |
18-33783107-G-A | c.973G>A | p.V325I | Missense | 5/15 | - | 1 |
18-33783111-T-C | c.977T>C | p.I326T | Missense | 5/15 | - | 2 |
18-33783112-C-A | c.978C>A | p.I326= | Synonymous | 5/15 | - | 1 |
18-33783112-C-T | c.978C>T | p.I326= | Synonymous | 5/15 | - | 1 |
18-33783113-G-A | c.979G>A | p.A327T | Missense | 5/15 | - | 4 |
18-33783114-C-T | c.980C>T | p.A327V | Missense | 5/15 | - | 6 |
18-33783115-G-A | c.981G>A | p.A327= | Synonymous | 5/15 | - | 1 |
18-33783122-C-T | c.988C>T | p.H330Y | Missense | 5/15 | - | 1 |
18-33783125-G-A | c.991G>A | p.G331R | Missense | 5/15 | - | 2 |
18-33783125-G-C | c.991G>C | p.G331R | Missense | 5/15 | - | 2 |
18-33783126-G-A | c.992G>A | p.G331E | Missense | 5/15 | - | 1 |
18-33783128-T-C | c.994T>C | p.F332L | Missense | 5/15 | - | 1 |
18-33783130-T-A | c.996T>A | p.F332L | Missense | 5/15 | - | 1 |
18-33783130-T-G | c.996T>G | p.F332L | Missense | 5/15 | - | 1 |
18-33783131-G-A | c.997G>A | p.D333N | Missense | 5/15 | - | 2 |
18-33783136-C-T | c.1002C>T | p.T334= | Synonymous | 5/15 | - | 1 |
18-33783137-C-T | c.1003C>T | p.L335= | Synonymous | 5/15 | - | 1 |
18-33783137-CTA-TTT | c.1003_1005delinsTTT | p.L335F | Missense | 5/15 | - | 1 |
18-33783138-T-A | c.1004T>A | p.L335Q | Missense | 5/15 | - | 1 |
18-33783140-G-A | c.1006G>A | p.E336K | Missense | 5/15 | - | 1 |
18-33783140-G-T | c.1006G>T | p.E336* | Nonsense | 5/15 | - | 1 |
18-33783142-G-C | c.1008G>C | p.E336D | Missense | 5/15 | - | 1 |
18-33783142-G-T | c.1008G>T | p.E336D | Missense | 5/15 | - | 1 |
18-33783144-G-A | c.1010G>A | p.R337H | Missense | 5/15 | - | 2 |
18-33783150-C-T | c.1016C>T | p.T339I | Missense | 5/15 | - | 1 |
18-33783152-G-A | c.1018G>A | p.G340S | Missense | 5/15 | - | 1 |
18-33783153-G-A | c.1018+1G>A | - | IntronicSNV | - | 5/14 | 1 |
18-33784735-T-A | c.1019-305T>A | - | IntronicSNV | - | 5/14 | 1 |
18-33784735-T-C | c.1019-305T>C | - | IntronicSNV | - | 5/14 | 1 |
18-33784857-G-A | c.1019-183G>A | - | IntronicSNV | - | 5/14 | 1 |
18-33784959-C-CACAAA | c.1019-80_1019-79insCAAAA | - | IntronicInsertion | - | 5/14 | 2 |
18-33785039-G-T | c.1019-1G>T | - | IntronicSNV | - | 5/14 | 1 |
18-33785040-G-A | c.1019G>A | p.G340D | Missense | 6/15 | - | 1 |
18-33785041-T-A | c.1020T>A | p.G340= | Synonymous | 6/15 | - | 1 |
18-33785041-T-C | c.1020T>C | p.G340= | Synonymous | 6/15 | - | 1 |
18-33785041-T-G | c.1020T>G | p.G340= | Synonymous | 6/15 | - | 1 |
18-33785045-A-G | c.1024A>G | p.M342V | Missense | 6/15 | - | 2 |
18-33785045-A-T | c.1024A>T | p.M342L | Missense | 6/15 | - | 1 |
18-33785056-A-AT | c.1035_1036insT | p.K346* | Nonsense | 6/15 | - | 1 |
18-33785055-TA-T | c.1037del | p.K346Sfs*90 | Frameshift | 6/15 | - | 1 |
18-33785055-T-TA | c.1037dup | p.Q347Afs*33 | Frameshift | 6/15 | - | 3 |
18-33785058-A-C | c.1037A>C | p.K346T | Missense | 6/15 | - | 1 |
18-33785062-G-A | c.1041G>A | p.Q347= | Synonymous | 6/15 | - | 3 |
18-33785064-A-G | c.1043A>G | p.H348R | Missense | 6/15 | - | 3 |
18-33785065-C-A | c.1044C>A | p.H348Q | Missense | 6/15 | - | 1 |
18-33785067-C-T | c.1046C>T | p.T349I | Missense | 6/15 | - | 1 |
18-33785068-C-A | c.1047C>A | p.T349= | Synonymous | 6/15 | - | 1 |
18-33785069-T-C | c.1048T>C | p.F350L | Missense | 6/15 | - | 1 |
18-33785071-C-A | c.1050C>A | p.F350L | Missense | 6/15 | - | 1 |
18-33785071-C-G | c.1050C>G | p.F350L | Missense | 6/15 | - | 1 |
18-33785073-C-A | c.1052C>A | p.T351N | Missense | 6/15 | - | 1 |
18-33785073-C-G | c.1052C>G | p.T351S | Missense | 6/15 | - | 1 |
18-33785073-C-T | c.1052C>T | p.T351I | Missense | 6/15 | - | 1 |
18-33785077-G-A | c.1056G>A | p.L352= | Synonymous | 6/15 | - | 1 |
18-33785082-A-C | c.1061A>C | p.Q354P | Missense | 6/15 | - | 1 |
18-33785083-G-A | c.1062G>A | p.Q354= | Synonymous | 6/15 | - | 2 |
18-33785084-T-C | c.1063T>C | p.Y355H | Missense | 6/15 | - | 2 |
18-33785085-A-C | c.1064A>C | p.Y355S | Missense | 6/15 | - | 1 |
18-33785085-A-G | c.1064A>G | p.Y355C | Missense | 6/15 | - | 4 |
18-33785090-T-A | c.1069T>A | p.Y357N | Missense | 6/15 | - | 1 |
18-33785091-A-G | c.1070A>G | p.Y357C | Missense | 6/15 | - | 1 |
18-33785093-G-A | c.1072G>A | p.V358M | Missense | 6/15 | - | 32 |
18-33785093-G-C | c.1072G>C | p.V358L | Missense | 6/15 | - | 32 |
18-33785099-C-T | c.1078C>T | p.L360= | Synonymous | 6/15 | - | 1 |
18-33785102-T-A | c.1081T>A | p.S361T | Missense | 6/15 | - | 3 |
18-33785103-C-T | c.1082C>T | p.S361F | Missense | 6/15 | - | 1 |
18-33785104-C-A | c.1083C>A | p.S361= | Synonymous | 6/15 | - | 1 |
18-33785104-C-G | c.1083C>G | p.S361= | Synonymous | 6/15 | - | 1 |
18-33785104-C-T | c.1083C>T | p.S361= | Synonymous | 6/15 | - | 1 |
18-33785106-C-A | c.1085C>A | p.S362Y | Missense | 6/15 | - | 7 |
18-33785106-C-G | c.1085C>G | p.S362C | Missense | 6/15 | - | 1 |
18-33785106-C-T | c.1085C>T | p.S362F | Missense | 6/15 | - | 2 |
18-33785103-CCT-C | c.1088_1089del | p.L363Pfs*16 | Frameshift | 6/15 | - | 3 |
18-33785114-T-C | c.1093T>C | p.Y365H | Missense | 6/15 | - | 1 |
18-33785116-C-T | c.1095C>T | p.Y365= | Synonymous | 6/15 | - | 1 |
18-33785118-C-A | c.1097C>A | p.P366H | Missense | 6/15 | - | 1 |
18-33785121-A-C | c.1100A>C | p.N367T | Missense | 6/15 | - | 1 |
18-33785121-A-G | c.1100A>G | p.N367S | Missense | 6/15 | - | 1 |
18-33785127-C-T | c.1106C>T | p.A369V | Missense | 6/15 | - | 1 |
18-33785129-C-G | c.1108C>G | p.P370A | Missense | 6/15 | - | 3 |
18-33785129-C-T | c.1108C>T | p.P370S | Missense | 6/15 | - | 1 |
18-33785130-C-A | c.1109C>A | p.P370H | Missense | 6/15 | - | 1 |
18-33785135-G-A | c.1114G>A | p.V372M | Missense | 6/15 | - | 1 |
18-33785138-C-T | c.1117C>T | p.R373W | Missense | 6/15 | - | 1 |
18-33785139-G-A | c.1118G>A | p.R373Q | Missense | 6/15 | - | 1 |
18-33785149-C-A | c.1128C>A | p.S376R | Missense | 6/15 | - | 2 |
18-33785149-C-T | c.1128C>T | p.S376= | Synonymous | 6/15 | - | 4 |
18-33785150-G-A | c.1129G>A | p.D377N | Missense | 6/15 | - | 3 |
18-33785151-A-T | c.1130A>T | p.D377V | Missense | 6/15 | - | 2 |
18-33785154-C-T | c.1133C>T | p.S378F | Missense | 6/15 | - | 1 |
18-33785156-G-A | c.1135G>A | p.E379K | Missense | 6/15 | - | 1 |
18-33785161-C-T | c.1140C>T | p.F380= | Synonymous | 6/15 | - | 1 |
18-33785162-A-G | c.1141A>G | p.S381G | Missense | 6/15 | - | 1 |
18-33785165-A-T | c.1144A>T | p.S382C | Missense | 6/15 | - | 1 |
18-33785172-A-T | c.1151A>T | p.E384V | Missense | 6/15 | - | 1 |
18-33785178-A-G | c.1157A>G | p.Q386R | Missense | 6/15 | - | 1 |
18-33785181-G-A | c.1160G>A | p.G387D | Missense | 6/15 | - | 1 |
18-33785185-A-G | c.1164A>G | p.P388= | Synonymous | 6/15 | - | 22 |
18-33785185-A-T | c.1164A>T | p.P388= | Synonymous | 6/15 | - | 16 |
18-33785188-C-A | c.1167C>A | p.I389= | Synonymous | 6/15 | - | 1 |
18-33785188-C-T | c.1167C>T | p.I389= | Synonymous | 6/15 | - | 1 |
18-33785193-A-G | c.1172A>G | p.N391S | Missense | 6/15 | - | 1 |
18-33785193-A-T | c.1172A>T | p.N391I | Missense | 6/15 | - | 1 |
18-33785193-A-AT | c.1176dup | p.N393* | Nonsense | 6/15 | - | 1 |
18-33785204-C-T | c.1183C>T | p.L395= | Synonymous | 6/15 | - | 1 |
18-33785217-GG-AC | c.1196_1197delinsAC | p.G399D | Missense | 6/15 | - | 1 |
18-33785218-G-A | c.1197G>A | p.G399= | Synonymous | 6/15 | - | 1 |
18-33785221-C-T | c.1200C>T | p.N400= | Synonymous | 6/15 | - | 1 |
18-33785222-A-G | c.1201A>G | p.I401V | Missense | 6/15 | - | 5 |
18-33785223-T-C | c.1202T>C | p.I401T | Missense | 6/15 | - | 2 |
18-33785224-C-A | c.1203C>A | p.I401= | Synonymous | 6/15 | - | 1 |
18-33785224-C-T | c.1203C>T | p.I401= | Synonymous | 6/15 | - | 1 |
18-33785224-TC-T | c.1203del | p.I402Lfs*34 | Frameshift | 6/15 | - | 1 |
18-33785226-T-C | c.1205T>C | p.I402T | Missense | 6/15 | - | 2 |
18-33785228-G-A | c.1207G>A | p.G403S | Missense | 6/15 | - | 1 |
18-33785228-G-T | c.1207G>T | p.G403C | Missense | 6/15 | - | 1 |
18-33785232-A-G | c.1211A>G | p.Y404C | Missense | 6/15 | - | 1 |
18-33785237-C-T | c.1216C>T | p.Q406* | Nonsense | 6/15 | - | 1 |
18-33785240-G-A | c.1218+1G>A | - | IntronicSNV | - | 6/14 | 1 |
18-33785290-A-T | c.1218+51A>T | - | IntronicSNV | - | 6/14 | 1 |
18-33785304-T-A | c.1218+65T>A | - | IntronicSNV | - | 6/14 | 6 |
18-33785304-T-C | c.1218+65T>C | - | IntronicSNV | - | 6/14 | 8 |
18-33785308-G-A | c.1218+69G>A | - | IntronicSNV | - | 6/14 | 1 |
18-33785982-T-A | c.1218+743T>A | - | IntronicSNV | - | 6/14 | 1 |
18-33786633-G-A | c.1218+1394G>A | - | IntronicSNV | - | 6/14 | 1 |
18-33786633-G-T | c.1218+1394G>T | - | IntronicSNV | - | 6/14 | 1 |
18-33791013-A-G | c.1219-2316A>G | - | IntronicSNV | - | 6/14 | 1 |
18-33793327-A-G | c.1219-2A>G | - | IntronicSNV | - | 6/14 | 1 |
18-33793329-G-C | c.1219G>C | p.V407L | Missense | 7/15 | - | 1 |
18-33793329-G-T | c.1219G>T | p.V407L | Missense | 7/15 | - | 3 |
18-33793329-GTG-TTT | c.1219_1221delinsTTT | p.V407F | Missense | 7/15 | - | 1 |
18-33793335-A-C | c.1225A>C | p.K409Q | Missense | 7/15 | - | 1 |
18-33793336-A-G | c.1226A>G | p.K409R | Missense | 7/15 | - | 1 |
18-33793342-C-T | c.1232C>T | p.A411V | Missense | 7/15 | - | 2 |
18-33793345-G-A | c.1235G>A | p.S412N | Missense | 7/15 | - | 1 |
18-33793346-T-C | c.1236T>C | p.S412= | Synonymous | 7/15 | - | 1 |
18-33793347-C-T | c.1237C>T | p.L413F | Missense | 7/15 | - | 1 |
18-33793355-C-T | c.1245C>T | p.N415= | Synonymous | 7/15 | - | 1 |
18-33793357-T-C | c.1247T>C | p.I416T | Missense | 7/15 | - | 1 |
18-33793360-A-G | c.1250A>G | p.H417R | Missense | 7/15 | - | 3 |
18-33793365-C-T | c.1255C>T | p.R419* | Nonsense | 7/15 | - | 11 |
18-33793366-G-A | c.1256G>A | p.R419Q | Missense | 7/15 | - | 6 |
18-33793368-A-G | c.1258A>G | p.T420A | Missense | 7/15 | - | 1 |
18-33793376-C-A | c.1266C>A | p.C422* | Nonsense | 7/15 | - | 2 |
18-33793378-T-A | c.1268T>A | p.F423Y | Missense | 7/15 | - | 1 |
18-33793379-C-T | c.1269C>T | p.F423= | Synonymous | 7/15 | - | 1 |
18-33793392-G-A | c.1282G>A | p.A428T | Missense | 7/15 | - | 1 |
18-33793392-G-C | c.1282G>C | p.A428P | Missense | 7/15 | - | 1 |
18-33793393-C-T | c.1283C>T | p.A428V | Missense | 7/15 | - | 7 |
18-33793398-C-T | c.1288C>T | p.Q430* | Nonsense | 7/15 | - | 1 |
18-33793400-G-C | c.1290G>C | p.Q430H | Missense | 7/15 | - | 1 |
18-33793404-C-T | c.1294C>T | p.H432Y | Missense | 7/15 | - | 1 |
18-33793406-C-A | c.1296C>A | p.H432Q | Missense | 7/15 | - | 1 |
18-33793406-C-G | c.1296C>G | p.H432Q | Missense | 7/15 | - | 1 |
18-33793407-C-G | c.1297C>G | p.L433V | Missense | 7/15 | - | 1 |
18-33793407-CTG-ATC | c.1297_1299delinsATC | p.L433I | Missense | 7/15 | - | 1 |
18-33793417-G-A | c.1307G>A | p.S436N | Missense | 7/15 | - | 2 |
18-33793420-A-G | c.1310A>G | p.N437S | Missense | 7/15 | - | 1 |
18-33793422-G-A | c.1312G>A | p.E438K | Missense | 7/15 | - | 2 |
18-33793422-G-C | c.1312G>C | p.E438Q | Missense | 7/15 | - | 1 |
18-33793424-G-C | c.1314G>C | p.E438D | Missense | 7/15 | - | 1 |
18-33793425-A-G | c.1315A>G | p.M439V | Missense | 7/15 | - | 1 |
18-33793426-T-C | c.1316T>C | p.M439T | Missense | 7/15 | - | 1 |
18-33793432-G-A | c.1322G>A | p.R441K | Missense | 7/15 | - | 1 |
18-33793433-G-C | c.1323G>C | p.R441S | Missense | 7/15 | - | 1 |
18-33793433-G-T | c.1323G>T | p.R441S | Missense | 7/15 | - | 1 |
18-33793438-A-C | c.1328A>C | p.H443P | Missense | 7/15 | - | 1 |
18-33793444-AG-A | c.1335+1del | - | IntronicDeletion | - | 7/14 | 1 |
18-33793447-T-G | c.1335+2T>G | - | IntronicSNV | - | 7/14 | 1 |
18-33793511-T-C | c.1335+66T>C | - | IntronicSNV | - | 7/14 | 7 |
18-33795425-G-A | c.1336-54G>A | - | IntronicSNV | - | 7/14 | 6 |
18-33795425-G-C | c.1336-54G>C | - | IntronicSNV | - | 7/14 | 6 |
18-33795479-G-A | c.1336G>A | p.A446T | Missense | 8/15 | - | 3 |
18-33795479-G-T | c.1336G>T | p.A446S | Missense | 8/15 | - | 1 |
18-33795481-T-A | c.1338T>A | p.A446= | Synonymous | 8/15 | - | 1 |
18-33795481-T-C | c.1338T>C | p.A446= | Synonymous | 8/15 | - | 1 |
18-33795481-T-G | c.1338T>G | p.A446= | Synonymous | 8/15 | - | 1 |
18-33795483-G-T | c.1340G>T | p.G447V | Missense | 8/15 | - | 1 |
18-33795485-C-T | c.1342C>T | p.H448Y | Missense | 8/15 | - | 1 |
18-33795491-T-A | c.1348T>A | p.C450S | Missense | 8/15 | - | 1 |
18-33795492-G-C | c.1349G>C | p.C450S | Missense | 8/15 | - | 1 |
18-33795492-G-A | c.1349G>A | p.C450Y | Missense | 8/15 | - | 4 |
18-33795494-G-A | c.1351G>A | p.G451R | Missense | 8/15 | - | 1 |
18-33795494-G-C | c.1351G>C | p.G451R | Missense | 8/15 | - | 1 |
18-33795495-G-T | c.1352G>T | p.G451V | Missense | 8/15 | - | 2 |
18-33795498-A-T | c.1355A>T | p.D452V | Missense | 8/15 | - | 1 |
18-33795499-C-A | c.1356C>A | p.D452E | Missense | 8/15 | - | 1 |
18-33795499-C-G | c.1356C>G | p.D452E | Missense | 8/15 | - | 1 |
18-33795501-A-G | c.1358A>G | p.N453S | Missense | 8/15 | - | 1 |
18-33795502-T-C | c.1359T>C | p.N453= | Synonymous | 8/15 | - | 1 |
18-33795509-C-T | c.1366C>T | p.L456F | Missense | 8/15 | - | 1 |
18-33795514-A-C | c.1371A>C | p.I457= | Synonymous | 8/15 | - | 1 |
18-33795514-A-T | c.1371A>T | p.I457= | Synonymous | 8/15 | - | 1 |
18-33795515-G-A | c.1372G>A | p.D458N | Missense | 8/15 | - | 1 |
18-33795519-G-A | c.1376G>A | p.G459E | Missense | 8/15 | - | 1 |
18-33795521-C-T | c.1378C>T | p.Q460* | Nonsense | 8/15 | - | 1 |
18-33795524-C-T | c.1381C>T | p.P461S | Missense | 8/15 | - | 1 |
18-33795528-C-T | c.1385C>T | p.T462I | Missense | 8/15 | - | 2 |
18-33795531-G-A | c.1388G>A | p.G463E | Missense | 8/15 | - | 1 |
18-33795534-C-A | c.1391C>A | p.S464Y | Missense | 8/15 | - | 2 |
18-33795534-C-T | c.1391C>T | p.S464F | Missense | 8/15 | - | 2 |
18-33795537-T-C | c.1394T>C | p.V465A | Missense | 8/15 | - | 1 |
18-33795538-G-A | c.1395G>A | p.V465= | Synonymous | 8/15 | - | 1 |
18-33795538-G-C | c.1395G>C | p.V465= | Synonymous | 8/15 | - | 1 |
18-33795538-G-T | c.1395G>T | p.V465= | Synonymous | 8/15 | - | 1 |
18-33795540-G-A | c.1397G>A | p.R466K | Missense | 8/15 | - | 2 |
18-33795546-C-T | c.1403C>T | p.S468L | Missense | 8/15 | - | 7 |
18-33795548-T-C | c.1405T>C | p.F469L | Missense | 8/15 | - | 1 |
18-33795548-T-G | c.1405T>G | p.F469V | Missense | 8/15 | - | 1 |
18-33795549-T-A | c.1406T>A | p.F469Y | Missense | 8/15 | - | 1 |
18-33795549-T-C | c.1406T>C | p.F469S | Missense | 8/15 | - | 1 |
18-33795551-G-T | c.1408G>T | p.G470* | Nonsense | 8/15 | - | 1 |
18-33795552-G-T | c.1409G>T | p.G470V | Missense | 8/15 | - | 1 |
18-33795554-T-C | c.1411T>C | p.Y471H | Missense | 8/15 | - | 2 |
18-33795555-A-G | c.1412A>G | p.Y471C | Missense | 8/15 | - | 1 |
18-33795557-A-C | c.1414A>C | p.M472L | Missense | 8/15 | - | 1 |
18-33795557-A-T | c.1414A>T | p.M472L | Missense | 8/15 | - | 1 |
18-33795560-T-C | c.1417T>C | p.S473P | Missense | 8/15 | - | 2 |
18-33795561-C-T | c.1418C>T | p.S473L | Missense | 8/15 | - | 5 |
18-33795562-G-A | c.1419G>A | p.S473= | Synonymous | 8/15 | - | 3 |
18-33795562-G-C | c.1419G>C | p.S473= | Synonymous | 8/15 | - | 3 |
18-33795562-G-T | c.1419G>T | p.S473= | Synonymous | 8/15 | - | 3 |
18-33795564-C-T | c.1421C>T | p.T474M | Missense | 8/15 | - | 3 |
18-33795566-C-T | c.1423C>T | p.L475= | Synonymous | 8/15 | - | 1 |
18-33795568-G-A | c.1425G>A | p.L475= | Synonymous | 8/15 | - | 1 |
18-33795568-G-C | c.1425G>C | p.L475= | Synonymous | 8/15 | - | 1 |
18-33795568-G-T | c.1425G>T | p.L475= | Synonymous | 8/15 | - | 1 |
18-33795576-T-C | c.1433T>C | p.V478A | Missense | 8/15 | - | 2 |
18-33795578-C-T | c.1435C>T | p.Q479* | Nonsense | 8/15 | - | 1 |
18-33795580-G-A | c.1437G>A | p.Q479= | Synonymous | 8/15 | - | 1 |
18-33795580-G-T | c.1437G>T | p.Q479H | Missense | 8/15 | - | 1 |
18-33795583-C-A | c.1440C>A | p.A480= | Synonymous | 8/15 | - | 1 |
18-33795589-T-A | c.1446T>A | p.L482= | Synonymous | 8/15 | - | 2 |
18-33795589-T-C | c.1446T>C | p.L482= | Synonymous | 8/15 | - | 2 |
18-33795589-T-G | c.1446T>G | p.L482= | Synonymous | 8/15 | - | 2 |
18-33795590-A-T | c.1447A>T | p.R483W | Missense | 8/15 | - | 1 |
18-33795595-C-T | c.1452C>T | p.F484= | Synonymous | 8/15 | - | 3 |
18-33795599-A-T | c.1456A>T | p.I486L | Missense | 8/15 | - | 1 |
18-33795606-C-G | c.1463C>G | p.T488S | Missense | 8/15 | - | 1 |
18-33795606-C-T | c.1463C>T | p.T488I | Missense | 8/15 | - | 1 |
18-33795609-G-A | c.1466G>A | p.R489H | Missense | 8/15 | - | 4 |
18-33795617-T-G | c.1474T>G | p.S492A | Missense | 8/15 | - | 1 |
18-33795620-T-G | c.1477T>G | p.S493A | Missense | 8/15 | - | 1 |
18-33795621-C-T | c.1478C>T | p.S493L | Missense | 8/15 | - | 4 |
18-33795625-G-A | c.1482G>A | p.G494= | Synonymous | 8/15 | - | 2 |
18-33795625-G-C | c.1482G>C | p.G494= | Synonymous | 8/15 | - | 2 |
18-33795625-G-T | c.1482G>T | p.G494= | Synonymous | 8/15 | - | 2 |
18-33795626-G-A | c.1483G>A | p.D495N | Missense | 8/15 | - | 2 |
18-33795626-G-T | c.1483G>T | p.D495Y | Missense | 8/15 | - | 1 |
18-33795631-G-A | c.1488G>A | p.W496* | Nonsense | 8/15 | - | 1 |
18-33795631-G-C | c.1488G>C | p.W496C | Missense | 8/15 | - | 2 |
18-33795631-G-T | c.1488G>T | p.W496C | Missense | 8/15 | - | 2 |
18-33795636-T-C | c.1493T>C | p.V498A | Missense | 8/15 | - | 1 |
18-33795637-C-A | c.1494C>A | p.V498= | Synonymous | 8/15 | - | 2 |
18-33795637-C-T | c.1494C>T | p.V498= | Synonymous | 8/15 | - | 1 |
18-33795638-C-T | c.1495C>T | p.P499S | Missense | 8/15 | - | 1 |
18-33795641-C-G | c.1498C>G | p.Q500E | Missense | 8/15 | - | 5 |
18-33795643-G-A | c.1500G>A | p.Q500= | Synonymous | 8/15 | - | 1 |
18-33795645-C-A | c.1502C>A | p.A501D | Missense | 8/15 | - | 1 |
18-33795646-C-A | c.1503C>A | p.A501= | Synonymous | 8/15 | - | 1 |
18-33795646-C-G | c.1503C>G | p.A501= | Synonymous | 8/15 | - | 1 |
18-33795646-C-T | c.1503C>T | p.A501= | Synonymous | 8/15 | - | 1 |
18-33795647-C-A | c.1504C>A | p.H502N | Missense | 8/15 | - | 2 |
18-33795648-A-G | c.1505A>G | p.H502R | Missense | 8/15 | - | 1 |
18-33795656-ACCGGGGAGACTGGAGCC-A | c.1516_1532del | p.G506Ifs*7 | Frameshift | 8/15 | - | 1 |
18-33795659-G-A | c.1516G>A | p.G506R | Missense | 8/15 | - | 3 |
18-33795659-G-T | c.1516G>T | p.G506W | Missense | 8/15 | - | 2 |
18-33795660-G-A | c.1517G>A | p.G506E | Missense | 8/15 | - | 4 |
18-33795661-G-A | c.1518G>A | p.G506= | Synonymous | 8/15 | - | 1 |
18-33795661-G-C | c.1518G>C | p.G506= | Synonymous | 8/15 | - | 1 |
18-33795661-G-T | c.1518G>T | p.G506= | Synonymous | 8/15 | - | 1 |
18-33795662-G-C | c.1519G>C | p.E507Q | Missense | 8/15 | - | 1 |
18-33795664-G-C | c.1521G>C | p.E507D | Missense | 8/15 | - | 1 |
18-33795664-G-T | c.1521G>T | p.E507D | Missense | 8/15 | - | 1 |
18-33795665-A-G | c.1522A>G | p.T508A | Missense | 8/15 | - | 1 |
18-33795668-GGA-TGG | c.1525_1527delinsTGG | p.G509W | Missense | 8/15 | - | 1 |
18-33795671-G-A | c.1528G>A | p.A510T | Missense | 8/15 | - | 2 |
18-33795671-G-T | c.1528G>T | p.A510S | Missense | 8/15 | - | 1 |
18-33795672-C-T | c.1529C>T | p.A510V | Missense | 8/15 | - | 1 |
18-33795673-C-T | c.1530C>T | p.A510= | Synonymous | 8/15 | - | 2 |
18-33795674-C-G | c.1531C>G | p.P511A | Missense | 8/15 | - | 1 |
18-33795689-C-T | c.1546C>T | p.Q516* | Nonsense | 8/15 | - | 2 |
18-33795699-T-C | c.1556T>C | p.V519A | Missense | 8/15 | - | 1 |
18-33795702-T-C | c.1559T>C | p.I520T | Missense | 8/15 | - | 1 |
18-33795705-C-T | c.1562C>T | p.P521L | Missense | 8/15 | - | 1 |
18-33795708-C-T | c.1565C>T | p.A522V | Missense | 8/15 | - | 1 |
18-33795713-A-T | c.1570A>T | p.M524L | Missense | 8/15 | - | 1 |
18-33795714-T-C | c.1571T>C | p.M524T | Missense | 8/15 | - | 1 |
18-33795717-G-C | c.1574G>C | p.G525A | Missense | 8/15 | - | 2 |
18-33795717-G-T | c.1574G>T | p.G525V | Missense | 8/15 | - | 2 |
18-33795719-AGA-CAT | c.1576_1578delinsCAT | p.R526H | Missense | 8/15 | - | 1 |
18-33795722-C-T | c.1579C>T | p.R527C | Missense | 8/15 | - | 2 |
18-33795723-G-A | c.1580G>A | p.R527H | Missense | 8/15 | - | 4 |
18-33795725-A-T | c.1582A>T | p.S528C | Missense | 8/15 | - | 1 |
18-33795734-C-T | c.1591C>T | p.P531S | Missense | 8/15 | - | 1 |
18-33795737-C-T | c.1594C>T | p.Q532* | Nonsense | 8/15 | - | 1 |
18-33795744-GA-G | c.1601del | p.D534Vfs*15 | Frameshift | 8/15 | - | 1 |
18-33795746-G-C | c.1603G>C | p.A535P | Missense | 8/15 | - | 1 |
18-33795747-C-G | c.1604C>G | p.A535G | Missense | 8/15 | - | 1 |
18-33795749-CTC-ATG | c.1606_1608delinsATG | p.L536M | Missense | 8/15 | - | 1 |
18-33795756-G-T | c.1613G>T | p.G538V | Missense | 8/15 | - | 2 |
18-33795759-C-G | c.1616C>G | p.S539C | Missense | 8/15 | - | 1 |
18-33795759-C-T | c.1616C>T | p.S539F | Missense | 8/15 | - | 1 |
18-33795764-G-C | c.1621G>C | p.V541L | Missense | 8/15 | - | 2 |
18-33795764-G-T | c.1621G>T | p.V541F | Missense | 8/15 | - | 1 |
18-33795774-A-G | c.1631A>G | p.N544S | Missense | 8/15 | - | 2 |
18-33795776-T-C | c.1633T>C | p.S545P | Missense | 8/15 | - | 3 |
18-33795777-C-A | c.1634C>A | p.S545* | Nonsense | 8/15 | - | 1 |
18-33795777-C-T | c.1634C>T | p.S545L | Missense | 8/15 | - | 1 |
18-33795778-G-A | c.1635G>A | p.S545= | Synonymous | 8/15 | - | 1 |
18-33795780-C-G | c.1637C>G | p.S546C | Missense | 8/15 | - | 1 |
18-33795783-C-T | c.1640C>T | p.T547I | Missense | 8/15 | - | 1 |
18-33795785-G-A | c.1642G>A | p.V548M | Missense | 8/15 | - | 1 |
18-33795786-T-A | c.1643T>A | p.V548E | Missense | 8/15 | - | 2 |
18-33795786-T-C | c.1643T>C | p.V548A | Missense | 8/15 | - | 2 |
18-33795792-C-G | c.1649C>G | p.A550G | Missense | 8/15 | - | 1 |
18-33795794-G-A | c.1651G>A | p.V551M | Missense | 8/15 | - | 1 |
18-33795798-C-T | c.1655C>T | p.P552L | Missense | 8/15 | - | 1 |
18-33795799-T-C | c.1656T>C | p.P552= | Synonymous | 8/15 | - | 1 |
18-33795800-GTG-ATC | c.1657_1659delinsATC | p.V553I | Missense | 8/15 | - | 1 |
18-33795804-C-T | c.1661C>T | p.A554V | Missense | 8/15 | - | 1 |
18-33795815-T-C | c.1672T>C | p.C558R | Missense | 8/15 | - | 1 |
18-33795819-A-G | c.1676A>G | p.D559G | Missense | 8/15 | - | 1 |
18-33795820-T-A | c.1677T>A | p.D559E | Missense | 8/15 | - | 1 |
18-33795821-G-A | c.1678G>A | p.V560I | Missense | 8/15 | - | 2 |
18-33795823-C-T | c.1680C>T | p.V560= | Synonymous | 8/15 | - | 1 |
18-33795824-G-A | c.1681G>A | p.A561T | Missense | 8/15 | - | 7 |
18-33795824-G-T | c.1681G>T | p.A561S | Missense | 8/15 | - | 1 |
18-33795828-G-A | c.1685G>A | p.R562K | Missense | 8/15 | - | 2 |
18-33795830-A-G | c.1687A>G | p.T563A | Missense | 8/15 | - | 1 |
18-33795832-C-A | c.1689C>A | p.T563= | Synonymous | 8/15 | - | 1 |
18-33795832-C-G | c.1689C>G | p.T563= | Synonymous | 8/15 | - | 1 |
18-33795832-C-T | c.1689C>T | p.T563= | Synonymous | 8/15 | - | 1 |
18-33795833-C-T | c.1690C>T | p.Q564* | Nonsense | 8/15 | - | 1 |
18-33795840-C-T | c.1697C>T | p.T566I | Missense | 8/15 | - | 1 |
18-33795842-C-A | c.1699C>A | p.P567T | Missense | 8/15 | - | 1 |
18-33795842-C-T | c.1699C>T | p.P567S | Missense | 8/15 | - | 1 |
18-33795857-G-T | c.1714G>T | p.A572S | Missense | 8/15 | - | 2 |
18-33795858-C-A | c.1715C>A | p.A572E | Missense | 8/15 | - | 1 |
18-33795860-GGA-AGC | c.1717_1719delinsAGC | p.G573S | Missense | 8/15 | - | 1 |
18-33795863-G-A | c.1720G>A | p.V574I | Missense | 8/15 | - | 1 |
18-33795865-C-A | c.1722C>A | p.V574= | Synonymous | 8/15 | - | 1 |
18-33795865-C-G | c.1722C>G | p.V574= | Synonymous | 8/15 | - | 1 |
18-33795865-C-T | c.1722C>T | p.V574= | Synonymous | 8/15 | - | 2 |
18-33795866-C-A | c.1723C>A | p.L575M | Missense | 8/15 | - | 1 |
18-33795866-C-T | c.1723C>T | p.L575= | Synonymous | 8/15 | - | 1 |
18-33795867-T-C | c.1724T>C | p.L575P | Missense | 8/15 | - | 2 |
18-33795871-G-A | c.1728G>A | p.E576= | Synonymous | 8/15 | - | 1 |
18-33795872-G-A | c.1729G>A | p.G577R | Missense | 8/15 | - | 1 |
18-33795873-G-A | c.1730G>A | p.G577E | Missense | 8/15 | - | 1 |
18-33795870-A-AG | c.1732dup | p.A578Gfs*9 | Frameshift | 8/15 | - | 1 |
18-33795875-G-A | c.1732G>A | p.A578T | Missense | 8/15 | - | 2 |
18-33795876-C-G | c.1733C>G | p.A578G | Missense | 8/15 | - | 1 |
18-33795884-C-G | c.1741C>G | p.P581A | Missense | 8/15 | - | 1 |
18-33795884-C-T | c.1741C>T | p.P581S | Missense | 8/15 | - | 1 |
18-33795885-C-T | c.1742C>T | p.P581L | Missense | 8/15 | - | 1 |
18-33795887-C-T | c.1744C>T | p.H582Y | Missense | 8/15 | - | 1 |
18-33795889-T-A | c.1746T>A | p.H582Q | Missense | 8/15 | - | 1 |
18-33795889-T-G | c.1746T>G | p.H582Q | Missense | 8/15 | - | 2 |
18-33795896-A-G | c.1753A>G | p.T585A | Missense | 8/15 | - | 1 |
18-33795903-T-G | c.1760T>G | p.L587R | Missense | 8/15 | - | 1 |
18-33795908-C-G | c.1765C>G | p.L589V | Missense | 8/15 | - | 1 |
18-33795910-C-A | c.1767C>A | p.L589= | Synonymous | 8/15 | - | 1 |
18-33795910-C-G | c.1767C>G | p.L589= | Synonymous | 8/15 | - | 1 |
18-33795910-C-T | c.1767C>T | p.L589= | Synonymous | 8/15 | - | 4 |
18-33795911-T-G | c.1768T>G | p.Y590D | Missense | 8/15 | - | 1 |
18-33795914-C-T | c.1771C>T | p.P591S | Missense | 8/15 | - | 2 |
18-33795924-C-T | c.1781C>T | p.S594F | Missense | 8/15 | - | 1 |
18-33795928-T-G | c.1785T>G | p.C595W | Missense | 8/15 | - | 1 |
18-33795932-G-A | c.1789G>A | p.A597T | Missense | 8/15 | - | 1 |
18-33795941-G-A | c.1797+1G>A | - | IntronicSNV | - | 8/14 | 1 |
18-33796927-C-T | c.1797+987C>T | - | IntronicSNV | - | 8/14 | 1 |
18-33800024-A-G | c.1804A>G | p.R602G | Missense | 9/15 | - | 1 |
18-33800026-G-A | c.1806G>A | p.R602= | Synonymous | 9/15 | - | 1 |
18-33800028-G-A | c.1808G>A | p.W603* | Nonsense | 9/15 | - | 1 |
18-33800029-G-A | c.1809G>A | p.W603* | Nonsense | 9/15 | - | 1 |
18-33800033-G-A | c.1813G>A | p.V605I | Missense | 9/15 | - | 1 |
18-33800036-G-A | c.1816G>A | p.G606R | Missense | 9/15 | - | 4 |
18-33800036-G-C | c.1816G>C | p.G606R | Missense | 9/15 | - | 3 |
18-33800040-A-G | c.1820A>G | p.N607S | Missense | 9/15 | - | 2 |
18-33800042-C-T | c.1822C>T | p.Q608* | Nonsense | 9/15 | - | 1 |
18-33800045-G-A | c.1825G>A | p.G609R | Missense | 9/15 | - | 1 |
18-33800046-G-A | c.1826G>A | p.G609E | Missense | 9/15 | - | 2 |
18-33800048-C-T | c.1828C>T | p.L610= | Synonymous | 9/15 | - | 1 |
18-33800050-G-A | c.1830G>A | p.L610= | Synonymous | 9/15 | - | 2 |
18-33800050-G-C | c.1830G>C | p.L610= | Synonymous | 9/15 | - | 1 |
18-33800050-G-T | c.1830G>T | p.L610= | Synonymous | 9/15 | - | 1 |
18-33800051-CTA-C | c.1835_1836del | p.Y612* | Frameshift | 9/15 | - | 1 |
18-33800058-A-G | c.1838A>G | p.D613G | Missense | 9/15 | - | 1 |
18-33800060-C-A | c.1840C>A | p.R614= | Synonymous | 9/15 | - | 1 |
18-33800060-C-T | c.1840C>T | p.R614W | Missense | 9/15 | - | 4 |
18-33800062-G-A | c.1842G>A | p.R614= | Synonymous | 9/15 | - | 1 |
18-33800062-G-C | c.1842G>C | p.R614= | Synonymous | 9/15 | - | 1 |
18-33800062-G-T | c.1842G>T | p.R614= | Synonymous | 9/15 | - | 1 |
18-33800061-G-A | c.1841G>A | p.R614Q | Missense | 9/15 | - | 3 |
18-33800067-G-A | c.1847G>A | p.W616* | Nonsense | 9/15 | - | 1 |
18-33800069-A-G | c.1849A>G | p.M617V | Missense | 9/15 | - | 5 |
18-33800070-T-C | c.1850T>C | p.M617T | Missense | 9/15 | - | 1 |
18-33800072-G-C | c.1852G>C | p.V618L | Missense | 9/15 | - | 1 |
18-33800073-T-C | c.1853T>C | p.V618A | Missense | 9/15 | - | 1 |
18-33800081-C-T | c.1861C>T | p.H621Y | Missense | 9/15 | - | 4 |
18-33800084-A-G | c.1864A>G | p.N622D | Missense | 9/15 | - | 1 |
18-33800085-A-G | c.1865A>G | p.N622S | Missense | 9/15 | - | 2 |
18-33800086-T-C | c.1866T>C | p.N622= | Synonymous | 9/15 | - | 1 |
18-33800087-G-T | c.1867G>T | p.G623C | Missense | 9/15 | - | 1 |
18-33800096-C-A | c.1876C>A | p.L626M | Missense | 9/15 | - | 1 |
18-33800102-C-T | c.1882C>T | p.Q628* | Nonsense | 9/15 | - | 1 |
18-33800110-G-A | c.1890G>A | p.Q630= | Synonymous | 9/15 | - | 2 |
18-33800111-G-A | c.1891G>A | p.E631K | Missense | 9/15 | - | 2 |
18-33800114-C-A | c.1894C>A | p.P632T | Missense | 9/15 | - | 1 |
18-33800115-C-G | c.1895C>G | p.P632R | Missense | 9/15 | - | 1 |
18-33800115-C-T | c.1895C>T | p.P632L | Missense | 9/15 | - | 1 |
18-33800117-CGG-AGC | c.1897_1899delinsAGC | p.R633S | Missense | 9/15 | - | 1 |
18-33800117-C-T | c.1897C>T | p.R633W | Missense | 9/15 | - | 2 |
18-33800118-G-A | c.1898G>A | p.R633Q | Missense | 9/15 | - | 1 |
18-33800118-G-T | c.1898G>T | p.R633L | Missense | 9/15 | - | 4 |
18-33800120-C-T | c.1900C>T | p.L634F | Missense | 9/15 | - | 1 |
18-33800122-C-T | c.1902C>T | p.L634= | Synonymous | 9/15 | - | 3 |
18-33800131-C-G | c.1911C>G | p.I637M | Missense | 9/15 | - | 1 |
18-33800133-A-T | c.1913A>T | p.Q638L | Missense | 9/15 | - | 1 |
18-33800144-G-A | c.1924G>A | p.D642N | Missense | 9/15 | - | 1 |
18-33800144-G-T | c.1924G>T | p.D642Y | Missense | 9/15 | - | 1 |
18-33800146-C-A | c.1926C>A | p.D642E | Missense | 9/15 | - | 1 |
18-33800146-C-T | c.1926C>T | p.D642= | Synonymous | 9/15 | - | 1 |
18-33800147-T-C | c.1927T>C | p.L643= | Synonymous | 9/15 | - | 1 |
18-33800149-G-A | c.1929G>A | p.L643= | Synonymous | 9/15 | - | 1 |
18-33800150-C-T | c.1930C>T | p.R644W | Missense | 9/15 | - | 3 |
18-33800151-G-T | c.1931G>T | p.R644L | Missense | 9/15 | - | 1 |
18-33800152-G-T | c.1932G>T | p.R644= | Synonymous | 9/15 | - | 1 |
18-33800154-A-G | c.1934A>G | p.Q645R | Missense | 9/15 | - | 1 |
18-33800156-AG-A | c.1938del | p.I647Sfs*12 | Frameshift | 9/15 | - | 1 |
18-33800159-A-G | c.1939A>G | p.I647V | Missense | 9/15 | - | 1 |
18-33800160-T-C | c.1940T>C | p.I647T | Missense | 9/15 | - | 1 |
18-33800162-A-G | c.1942A>G | p.M648V | Missense | 9/15 | - | 1 |
18-33800172-A-T | c.1952A>T | p.K651I | Missense | 9/15 | - | 1 |
18-33800173-A-C | c.1953A>C | p.K651N | Missense | 9/15 | - | 1 |
18-33800173-A-T | c.1953A>T | p.K651N | Missense | 9/15 | - | 1 |
18-33800174-G-A | c.1954G>A | p.A652T | Missense | 9/15 | - | 1 |
18-33800176-C-A | c.1956C>A | p.A652= | Synonymous | 9/15 | - | 3 |
18-33800176-C-G | c.1956C>G | p.A652= | Synonymous | 9/15 | - | 1 |
18-33800176-C-T | c.1956C>T | p.A652= | Synonymous | 9/15 | - | 1 |
18-33800180-G-A | c.1960G>A | p.G654R | Missense | 9/15 | - | 4 |
18-33800180-G-C | c.1960G>C | p.G654R | Missense | 9/15 | - | 4 |
18-33800180-G-T | c.1960G>T | p.G654W | Missense | 9/15 | - | 1 |
18-33800181-G-T | c.1960+1G>T | - | IntronicSNV | - | 9/14 | 1 |
18-33800305-AC-A | c.1960+125del | - | IntronicDeletion | - | 9/14 | 1 |
18-33800305-CA-C | c.1960+141del | - | IntronicDeletion | - | 9/14 | 1 |
18-33803586-TA-T | c.1960+3413del | - | IntronicDeletion | - | 9/14 | 1 |
18-33823536-C-CTT | c.1961-5343_1961-5342dup | - | IntronicInsertion | - | 9/14 | 1 |
18-33823536-C-CT | c.1961-5342dup | - | IntronicInsertion | - | 9/14 | 1 |
18-33824555-C-T | c.1961-4330C>T | - | IntronicSNV | - | 9/14 | 1 |
18-33824631-A-G | c.1961-4254A>G | - | IntronicSNV | - | 9/14 | 1 |
18-33824631-A-T | c.1961-4254A>T | - | IntronicSNV | - | 9/14 | 1 |
18-33825830-C-T | c.1961-3055C>T | - | IntronicSNV | - | 9/14 | 1 |
18-33828805-C-T | c.1961-80C>T | - | IntronicSNV | - | 9/14 | 1 |
18-33828884-G-A | c.1961-1G>A | - | IntronicSNV | - | 9/14 | 1 |
18-33828885-G-T | c.1961G>T | p.G654V | Missense | 10/15 | - | 1 |
18-33828886-G-A | c.1962G>A | p.G654= | Synonymous | 10/15 | - | 1 |
18-33828899-G-A | c.1975G>A | p.E659K | Missense | 10/15 | - | 1 |
18-33828903-T-C | c.1979T>C | p.V660A | Missense | 10/15 | - | 1 |
18-33828905-C-T | c.1981C>T | p.P661S | Missense | 10/15 | - | 1 |
18-33828904-GC-G | c.1982del | p.P661Lfs*21 | Frameshift | 10/15 | - | 1 |
18-33828908-C-T | c.1984C>T | p.L662F | Missense | 10/15 | - | 1 |
18-33828919-T-G | c.1995T>G | p.N665K | Missense | 10/15 | - | 1 |
18-33828926-C-T | c.2002C>T | p.R668W | Missense | 10/15 | - | 1 |
18-33828927-G-A | c.2003G>A | p.R668Q | Missense | 10/15 | - | 4 |
18-33828929-A-G | c.2005A>G | p.T669A | Missense | 10/15 | - | 1 |
18-33828929-A-T | c.2005A>T | p.T669S | Missense | 10/15 | - | 1 |
18-33828930-C-G | c.2006C>G | p.T669S | Missense | 10/15 | - | 1 |
18-33828930-C-T | c.2006C>T | p.T669I | Missense | 10/15 | - | 1 |
18-33828938-C-A | c.2014C>A | p.R672S | Missense | 10/15 | - | 2 |
18-33828938-C-T | c.2014C>T | p.R672C | Missense | 10/15 | - | 7 |
18-33828939-G-A | c.2015G>A | p.R672H | Missense | 10/15 | - | 3 |
18-33828943-A-C | c.2019A>C | p.Q673H | Missense | 10/15 | - | 1 |
18-33828943-A-T | c.2019A>T | p.Q673H | Missense | 10/15 | - | 1 |
18-33828944-A-G | c.2020A>G | p.S674G | Missense | 10/15 | - | 1 |
18-33828950-G-C | c.2026G>C | p.V676L | Missense | 10/15 | - | 4 |
18-33828953-TG-AC | c.2029_2030delinsAC | p.C677T | Missense | 10/15 | - | 3 |
18-33828954-G-A | c.2030G>A | p.C677Y | Missense | 10/15 | - | 2 |
18-33828954-G-C | c.2030G>C | p.C677S | Missense | 10/15 | - | 1 |
18-33828957-C-T | c.2033C>T | p.A678V | Missense | 10/15 | - | 2 |
18-33828961-C-T | c.2037C>T | p.D679= | Synonymous | 10/15 | - | 1 |
18-33828964-G-T | c.2039+1G>T | - | IntronicSNV | - | 10/14 | 1 |
18-33828965-T-C | c.2039+2T>C | - | IntronicSNV | - | 10/14 | 1 |
18-33828980-C-G | c.2039+17C>G | - | IntronicSNV | - | 10/14 | 5 |
18-33828980-C-T | c.2039+17C>T | - | IntronicSNV | - | 10/14 | 3 |
18-33828991-C-T | c.2039+28C>T | - | IntronicSNV | - | 10/14 | 1 |
18-33829024-G-A | c.2039+61G>A | - | IntronicSNV | - | 10/14 | 2 |
18-33829024-G-T | c.2039+61G>T | - | IntronicSNV | - | 10/14 | 2 |
18-33829077-T-A | c.2039+114T>A | - | IntronicSNV | - | 10/14 | 2 |
18-33829077-T-C | c.2039+114T>C | - | IntronicSNV | - | 10/14 | 5 |
18-33829651-A-T | c.2039+688A>T | - | IntronicSNV | - | 10/14 | 1 |
18-33831044-C-T | c.2040-78C>T | - | IntronicSNV | - | 10/14 | 3 |
18-33831123-G-A | c.2041G>A | p.V681I | Missense | 11/15 | - | 1 |
18-33831133-A-G | c.2051A>G | p.Y684C | Missense | 11/15 | - | 1 |
18-33831134-T-G | c.2052T>G | p.Y684* | Nonsense | 11/15 | - | 1 |
18-33831140-T-C | c.2058T>C | p.C686= | Synonymous | 11/15 | - | 1 |
18-33831142-G-A | c.2060G>A | p.G687E | Missense | 11/15 | - | 1 |
18-33831144-G-C | c.2062G>C | p.E688Q | Missense | 11/15 | - | 2 |
18-33831147-A-C | c.2065A>C | p.K689Q | Missense | 11/15 | - | 1 |
18-33831151-T-A | c.2069T>A | p.I690N | Missense | 11/15 | - | 2 |
18-33831180-C-T | c.2098C>T | p.R700C | Missense | 11/15 | - | 5 |
18-33831181-G-A | c.2099G>A | p.R700H | Missense | 11/15 | - | 1 |
18-33831181-G-C | c.2099G>C | p.R700P | Missense | 11/15 | - | 1 |
18-33831188-T-A | c.2106T>A | p.C702* | Nonsense | 11/15 | - | 1 |
18-33831189-C-A | c.2107C>A | p.H703N | Missense | 11/15 | - | 36 |
18-33831189-C-T | c.2107C>T | p.H703Y | Missense | 11/15 | - | 8 |
18-33831190-A-G | c.2108A>G | p.H703R | Missense | 11/15 | - | 1 |
18-33831191-T-C | c.2109T>C | p.H703= | Synonymous | 11/15 | - | 1 |
18-33831194-G-T | c.2112G>T | p.L704F | Missense | 11/15 | - | 1 |
18-33831198-A-G | c.2116A>G | p.K706E | Missense | 11/15 | - | 1 |
18-33831196-TCAAA-T | c.2119_2122del | p.Q707Vfs*27 | Frameshift | 11/15 | - | 1 |
18-33831205-G-T | c.2123G>T | p.S708I | Missense | 11/15 | - | 1 |
18-33831207-T-C | c.2125T>C | p.S709P | Missense | 11/15 | - | 3 |
18-33831208-C-A | c.2126C>A | p.S709* | Nonsense | 11/15 | - | 1 |
18-33831208-C-G | c.2126C>G | p.S709* | Nonsense | 11/15 | - | 1 |
18-33831216-C-G | c.2134C>G | p.Q712E | Missense | 11/15 | - | 1 |
18-33831216-C-T | c.2134C>T | p.Q712* | Nonsense | 11/15 | - | 1 |
18-33831219-A-G | c.2137A>G | p.R713G | Missense | 11/15 | - | 1 |
18-33831220-G-C | c.2138G>C | p.R713T | Missense | 11/15 | - | 1 |
18-33831223-A-T | c.2141A>T | p.N714I | Missense | 11/15 | - | 2 |
18-33831224-T-A | c.2142T>A | p.N714K | Missense | 11/15 | - | 1 |
18-33831224-T-G | c.2142T>G | p.N714K | Missense | 11/15 | - | 1 |
18-33831225-G-A | c.2143G>A | p.A715T | Missense | 11/15 | - | 1 |
18-33831230-G-C | c.2148G>C | p.K716N | Missense | 11/15 | - | 1 |
18-33831230-G-T | c.2148G>T | p.K716N | Missense | 11/15 | - | 1 |
18-33831234-A-T | c.2152A>T | p.K718* | Nonsense | 11/15 | - | 1 |
18-33831236-A-G | c.2154A>G | p.K718= | Synonymous | 11/15 | - | 1 |
18-33831237-C-T | c.2155C>T | p.H719Y | Missense | 11/15 | - | 1 |
18-33831245-AG-A | c.2164+1del | - | IntronicDeletion | - | 11/14 | 1 |
18-33831248-T-C | c.2164+2T>C | - | IntronicSNV | - | 11/14 | 1 |
18-33831269-G-A | c.2164+23G>A | - | IntronicSNV | - | 11/14 | 1 |
18-33834579-C-T | c.2165-2352C>T | - | IntronicSNV | - | 11/14 | 1 |
18-33836933-C-G | c.2167C>G | p.Q723E | Missense | 12/15 | - | 1 |
18-33836941-T-A | c.2175T>A | p.P725= | Synonymous | 12/15 | - | 1 |
18-33836941-T-C | c.2175T>C | p.P725= | Synonymous | 12/15 | - | 1 |
18-33836941-T-G | c.2175T>G | p.P725= | Synonymous | 12/15 | - | 1 |
18-33836951-G-A | c.2185G>A | p.A729T | Missense | 12/15 | - | 1 |
18-33836952-C-T | c.2186C>T | p.A729V | Missense | 12/15 | - | 1 |
18-33836955-C-T | c.2189C>T | p.T730I | Missense | 12/15 | - | 2 |
18-33836957-C-G | c.2191C>G | p.L731V | Missense | 12/15 | - | 1 |
18-33836959-T-C | c.2193T>C | p.L731= | Synonymous | 12/15 | - | 1 |
18-33836961-C-T | c.2195C>T | p.S732F | Missense | 12/15 | - | 4 |
18-33836970-A-G | c.2204A>G | p.N735S | Missense | 12/15 | - | 1 |
18-33836975-G-A | c.2209G>A | p.A737T | Missense | 12/15 | - | 1 |
18-33836979-A-G | c.2213A>G | p.Q738R | Missense | 12/15 | - | 1 |
18-33836982-A-G | c.2216A>G | p.Y739C | Missense | 12/15 | - | 1 |
18-33836993-A-G | c.2227A>G | p.N743D | Missense | 12/15 | - | 3 |
18-33836994-A-T | c.2228A>T | p.N743I | Missense | 12/15 | - | 4 |
18-33836995-C-A | c.2229C>A | p.N743K | Missense | 12/15 | - | 1 |
18-33836995-C-G | c.2229C>G | p.N743K | Missense | 12/15 | - | 1 |
18-33836997-C-T | c.2231C>T | p.T744I | Missense | 12/15 | - | 1 |
18-33836999-T-C | c.2233T>C | p.S745P | Missense | 12/15 | - | 2 |
18-33837003-G-A | c.2237G>A | p.S746N | Missense | 12/15 | - | 2 |
18-33837011-G-C | c.2245G>C | p.E749Q | Missense | 12/15 | - | 1 |
18-33837017-C-A | c.2251C>A | p.H751N | Missense | 12/15 | - | 1 |
18-33837020-C-T | c.2254C>T | p.R752W | Missense | 12/15 | - | 2 |
18-33837021-G-A | c.2255G>A | p.R752Q | Missense | 12/15 | - | 5 |
18-33837023-C-T | c.2257C>T | p.Q753* | Nonsense | 12/15 | - | 1 |
18-33837026-CTA-TTT | c.2260_2262delinsTTT | p.L754F | Missense | 12/15 | - | 1 |
18-33837031-C-A | c.2265C>A | p.N755K | Missense | 12/15 | - | 1 |
18-33837033-C-G | c.2267C>G | p.T756S | Missense | 12/15 | - | 1 |
18-33837033-C-T | c.2267C>T | p.T756I | Missense | 12/15 | - | 2 |
18-33837037-G-A | c.2270+1G>A | - | IntronicSNV | - | 12/14 | 1 |
18-33837059-T-C | c.2270+23T>C | - | IntronicSNV | - | 12/14 | 1 |
18-33837998-C-A | c.2270+962C>A | - | IntronicSNV | - | 12/14 | 1 |
18-33837998-C-T | c.2270+962C>T | - | IntronicSNV | - | 12/14 | 1 |
18-33839956-C-T | c.2271-44C>T | - | IntronicSNV | - | 12/14 | 1 |
18-33839999-G-A | c.2271-1G>A | - | IntronicSNV | - | 12/14 | 1 |
18-33840002-A-C | c.2273A>C | p.D758A | Missense | 13/15 | - | 1 |
18-33840006-G-T | c.2277G>T | p.E759D | Missense | 13/15 | - | 1 |
18-33840016-G-A | c.2287G>A | p.E763K | Missense | 13/15 | - | 1 |
18-33840016-G-T | c.2287G>T | p.E763* | Nonsense | 13/15 | - | 1 |
18-33840017-A-T | c.2288A>T | p.E763V | Missense | 13/15 | - | 1 |
18-33840018-G-A | c.2289G>A | p.E763= | Synonymous | 13/15 | - | 1 |
18-33840027-C-T | c.2298C>T | p.F766= | Synonymous | 13/15 | - | 3 |
18-33840031-C-A | c.2302C>A | p.L768M | Missense | 13/15 | - | 1 |
18-33840038-A-C | c.2309A>C | p.D770A | Missense | 13/15 | - | 1 |
18-33840043-A-C | c.2314A>C | p.S772R | Missense | 13/15 | - | 1 |
18-33840045-C-A | c.2316C>A | p.S772R | Missense | 13/15 | - | 1 |
18-33840045-C-G | c.2316C>G | p.S772R | Missense | 13/15 | - | 1 |
18-33840049-C-G | c.2320C>G | p.R774G | Missense | 13/15 | - | 1 |
18-33840049-C-T | c.2320C>T | p.R774C | Missense | 13/15 | - | 1 |
18-33840050-G-A | c.2321G>A | p.R774H | Missense | 13/15 | - | 4 |
18-33840055-C-G | c.2326C>G | p.R776G | Missense | 13/15 | - | 1 |
18-33840055-C-T | c.2326C>T | p.R776C | Missense | 13/15 | - | 19 |
18-33840056-G-A | c.2327G>A | p.R776H | Missense | 13/15 | - | 6 |
18-33840066-T-A | c.2337T>A | p.I779= | Synonymous | 13/15 | - | 1 |
18-33840066-T-C | c.2337T>C | p.I779= | Synonymous | 13/15 | - | 2 |
18-33840070-A-C | c.2341A>C | p.I781L | Missense | 13/15 | - | 2 |
18-33840072-C-A | c.2343C>A | p.I781= | Synonymous | 13/15 | - | 2 |
18-33840072-C-T | c.2343C>T | p.I781= | Synonymous | 13/15 | - | 2 |
18-33840076-G-T | c.2347G>T | p.G783* | Nonsense | 13/15 | - | 1 |
18-33840077-G-A | c.2348G>A | p.G783E | Missense | 13/15 | - | 1 |
18-33840079-A-C | c.2350A>C | p.K784Q | Missense | 13/15 | - | 1 |
18-33840082-A-G | c.2353A>G | p.R785G | Missense | 13/15 | - | 3 |
18-33840085-G-A | c.2356G>A | p.A786T | Missense | 13/15 | - | 1 |
18-33840085-G-C | c.2356G>C | p.A786P | Missense | 13/15 | - | 1 |
18-33840088-T-G | c.2359T>G | p.F787V | Missense | 13/15 | - | 2 |
18-33840092-A-T | c.2363A>T | p.E788V | Missense | 13/15 | - | 1 |
18-33840094-G-T | c.2365G>T | p.E789* | Nonsense | 13/15 | - | 2 |
18-33840099-G-C | c.2370G>C | p.E790D | Missense | 13/15 | - | 1 |
18-33840104-G-A | c.2375G>A | p.W792* | Nonsense | 13/15 | - | 1 |
18-33840108-T-G | c.2379T>G | p.D793E | Missense | 13/15 | - | 1 |
18-33840118-A-G | c.2389A>G | p.I797V | Missense | 13/15 | - | 1 |
18-33840121-G-A | c.2392G>A | p.G798S | Missense | 13/15 | - | 2 |
18-33840122-G-A | c.2393G>A | p.G798D | Missense | 13/15 | - | 1 |
18-33840125-C-T | c.2396C>T | p.S799F | Missense | 13/15 | - | 2 |
18-33840128-T-C | c.2399T>C | p.L800S | Missense | 13/15 | - | 1 |
18-33840129-G-T | c.2400G>T | p.L800F | Missense | 13/15 | - | 1 |
18-33840130-C-A | c.2401C>A | p.R801S | Missense | 13/15 | - | 1 |
18-33840130-C-T | c.2401C>T | p.R801C | Missense | 13/15 | - | 2 |
18-33840131-G-A | c.2402G>A | p.R801H | Missense | 13/15 | - | 2 |
18-33840136-C-T | c.2407C>T | p.Q803* | Nonsense | 13/15 | - | 1 |
18-33840138-G-A | c.2409G>A | p.Q803= | Synonymous | 13/15 | - | 2 |
18-33840139-G-A | c.2409+1G>A | - | IntronicSNV | - | 13/14 | 1 |
18-33840801-C-T | c.2409+663C>T | - | IntronicSNV | - | 13/14 | 1 |
18-33841881-GA-G | c.2409+1751del | - | IntronicDeletion | - | 13/14 | 1 |
18-33842286-T-C | c.2409+2148T>C | - | IntronicSNV | - | 13/14 | 2 |
18-33846597-A-C | c.2410-115A>C | - | IntronicSNV | - | 13/14 | 3 |
18-33846712-GTT-ATG | c.2410_2412delinsATG | p.V804M | Missense | 14/15 | - | 1 |
18-33846722-C-T | c.2420C>T | p.P807L | Missense | 14/15 | - | 1 |
18-33846726-T-C | c.2424T>C | p.C808= | Synonymous | 14/15 | - | 1 |
18-33846728-A-G | c.2426A>G | p.H809R | Missense | 14/15 | - | 1 |
18-33846730-AGA-TGG | c.2428_2430delinsTGG | p.R810W | Missense | 14/15 | - | 1 |
18-33846730-AGA-TGT | c.2428_2430delinsTGT | p.R810C | Missense | 14/15 | - | 1 |
18-33846733-T-A | c.2431T>A | p.C811S | Missense | 14/15 | - | 1 |
18-33846736-C-T | c.2434C>T | p.Q812* | Nonsense | 14/15 | - | 3 |
18-33846751-G-A | c.2449G>A | p.D817N | Missense | 14/15 | - | 1 |
18-33846751-G-C | c.2449G>C | p.D817H | Missense | 14/15 | - | 1 |
18-33846753-C-A | c.2451C>A | p.D817E | Missense | 14/15 | - | 1 |
18-33846755-A-G | c.2453A>G | p.Q818R | Missense | 14/15 | - | 1 |
18-33846761-C-A | c.2459C>A | p.T820N | Missense | 14/15 | - | 3 |
18-33846761-C-T | c.2459C>T | p.T820I | Missense | 14/15 | - | 1 |
18-33846765-G-A | c.2463G>A | p.G821= | Synonymous | 14/15 | - | 1 |
18-33846769-C-T | c.2467C>T | p.R823* | Nonsense | 14/15 | - | 1 |
18-33846772-A-T | c.2470A>T | p.N824Y | Missense | 14/15 | - | 1 |
18-33846779-A-T | c.2477A>T | p.H826L | Missense | 14/15 | - | 1 |
18-33846786-C-T | c.2484C>T | p.F828= | Synonymous | 14/15 | - | 1 |
18-33846791-A-G | c.2489A>G | p.K830R | Missense | 14/15 | - | 1 |
18-33846787-C-CA | c.2490dup | p.L831Tfs*3 | Frameshift | 14/15 | - | 2 |
18-33846803-G-A | c.2501G>A | p.S834N | Missense | 14/15 | - | 1 |
18-33846806-G-A | c.2504G>A | p.R835H | Missense | 14/15 | - | 3 |
18-33846811-A-T | c.2509A>T | p.T837S | Missense | 14/15 | - | 1 |
18-33846814-A-G | c.2512A>G | p.K838E | Missense | 14/15 | - | 1 |
18-33846917-G-A | c.2514+101G>A | - | IntronicSNV | - | 14/14 | 1 |
18-33846917-G-C | c.2514+101G>C | - | IntronicSNV | - | 14/14 | 1 |
18-33847007-C-CT | c.2514+199dup | - | IntronicInsertion | - | 14/14 | 1 |
18-33848470-T-C | c.2515-26T>C | - | IntronicSNV | - | 14/14 | 1 |
18-33848470-T-G | c.2515-26T>G | - | IntronicSNV | - | 14/14 | 1 |
18-33848495-G-A | c.2515-1G>A | - | IntronicSNV | - | 14/14 | 1 |
18-33848496-GTG-ATC | c.2515_2517delinsATC | p.V839I | Missense | 15/15 | - | 1 |
18-33848508-A-G | c.2527A>G | p.M843V | Missense | 15/15 | - | 4 |
18-33848509-T-C | c.2528T>C | p.M843T | Missense | 15/15 | - | 3 |
18-33848514-C-G | c.2533C>G | p.L845V | Missense | 15/15 | - | 3 |
18-33848520-C-G | c.2539C>G | p.H847D | Missense | 15/15 | - | 1 |
18-33848521-A-T | c.2540A>T | p.H847L | Missense | 15/15 | - | 2 |
18-33848526-T-C | c.2545T>C | p.S849P | Missense | 15/15 | - | 5 |
18-33848527-C-T | c.2546C>T | p.S849L | Missense | 15/15 | - | 1 |
18-33848532-G-T | c.2551G>T | p.D851Y | Missense | 15/15 | - | 1 |
18-33848542-C-G | c.2561C>G | p.S854C | Missense | 15/15 | - | 1 |
18-33848543-C-T | c.2562C>T | p.S854= | Synonymous | 15/15 | - | 1 |
18-33848545-C-T | c.2564C>T | p.P855L | Missense | 15/15 | - | 2 |
18-33848554-T-G | c.2573T>G | p.L858R | Missense | 15/15 | - | 1 |
18-33848557-C-CACCCACATT | c.2576_2577insACCCACATT | p.S859_V860insPTF | InFrameInsertion | 15/15 | - | 1 |
18-33848562-GGA-AGC | c.2581_2583delinsAGC | p.G861S | Missense | 15/15 | - | 1 |
18-33848563-G-A | c.2582G>A | p.G861E | Missense | 15/15 | - | 1 |
18-33848566-C-A | c.2585C>A | p.S862Y | Missense | 15/15 | - | 1 |
18-33848580-G-A | c.2599G>A | p.V867M | Missense | 15/15 | - | 2 |
18-33848580-G-C | c.2599G>C | p.V867L | Missense | 15/15 | - | 1 |
18-33848580-G-T | c.2599G>T | p.V867L | Missense | 15/15 | - | 2 |
18-33848581-T-C | c.2600T>C | p.V867A | Missense | 15/15 | - | 15 |
18-33848581-T-G | c.2600T>G | p.V867G | Missense | 15/15 | - | 4 |
18-33848583-T-C | c.2602T>C | p.L868= | Synonymous | 15/15 | - | 1 |
18-33848605-A-AT | c.2625dup | p.D876* | Nonsense | 15/15 | - | 1 |
18-33848607-G-A | c.2626G>A | p.D876N | Missense | 15/15 | - | 1 |
18-33848609-T-A | c.2628T>A | p.D876E | Missense | 15/15 | - | 1 |
18-33848609-T-G | c.2628T>G | p.D876E | Missense | 15/15 | - | 1 |
18-33848610-TT-CA | c.2629_2630delinsCA | p.L877Q | Missense | 15/15 | - | 1 |
18-33848614-C-A | c.2633C>A | p.P878H | Missense | 15/15 | - | 1 |
18-33848614-C-T | c.2633C>T | p.P878L | Missense | 15/15 | - | 1 |
18-33848622-G-A | c.2641G>A | p.E881K | Missense | 15/15 | - | 2 |
18-33848627-A-C | c.2646A>C | p.K882N | Missense | 15/15 | - | 1 |
18-33848627-A-T | c.2646A>T | p.K882N | Missense | 15/15 | - | 1 |
18-33848632-A-G | c.2651A>G | p.Q884R | Missense | 15/15 | - | 1 |
18-33848642-C-T | c.2661C>T | p.T887= | Synonymous | 15/15 | - | 1 |
18-33848644-C-T | c.2663C>T | p.S888F | Missense | 15/15 | - | 1 |
18-33848646-TA-T | c.*6del | - | CdsStopDeletion | 15/15 | - | 3 |
18-33848646-T-TA | c.*6dup | - | CdsStopInsertion | 15/15 | - | 1 |
18-33848663-A-ATACAT | c.*17_*18insCATTA | - | 3-UTRInsertion | 15/15 | - | 3 |
18-33848664-T-TAC | c.*17_*18insCA | - | 3-UTRInsertion | 15/15 | - | 1 |
18-33848666-A-C | c.*18A>C | - | 3-UTRSNV | 15/15 | - | 1 |
18-33849043-G-A | c.*395G>A | - | IntergenicSNV | 15/15 | - | 1 |
18-33849043-G-C | c.*395G>C | - | IntergenicSNV | 15/15 | - | 1 |
18-33849868-G-A | c.*1220G>A | - | IntergenicSNV | 15/15 | - | 1 |
18-33849868-G-T | c.*1220G>T | - | IntergenicSNV | 15/15 | - | 1 |