Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
16-29824381-A-C | c.6A>C | p.A2= | Synonymous | 2/4 | - | 1 |
16-29824381-A-G | c.6A>G | p.A2= | Synonymous | 2/4 | - | 1 |
16-29824381-A-T | c.6A>T | p.A2= | Synonymous | 2/4 | - | 1 |
16-29824384-C-A | c.9C>A | p.A3= | Synonymous | 2/4 | - | 1 |
16-29824384-C-G | c.9C>G | p.A3= | Synonymous | 2/4 | - | 1 |
16-29824384-C-T | c.9C>T | p.A3= | Synonymous | 2/4 | - | 1 |
16-29824399-C-A | c.24C>A | p.I8= | Synonymous | 2/4 | - | 1 |
16-29824399-C-T | c.24C>T | p.I8= | Synonymous | 2/4 | - | 1 |
16-29824403-G-A | c.28G>A | p.E10K | Missense | 2/4 | - | 1 |
16-29824403-GA-TC | c.28_29inv | p.E10S | Missense | 2/4 | - | 1 |
16-29824403-G-T | c.28G>T | p.E10* | Nonsense | 2/4 | - | 1 |
16-29824404-A-C | c.29A>C | p.E10A | Missense | 2/4 | - | 3 |
16-29824405-G-C | c.30G>C | p.E10D | Missense | 2/4 | - | 1 |
16-29824405-G-T | c.30G>T | p.E10D | Missense | 2/4 | - | 1 |
16-29824409-AA-GC | c.34_35delinsGC | p.K12A | Missense | 2/4 | - | 1 |
16-29824409-AAG-TAT | c.34_36delinsTAT | p.K12Y | Missense | 2/4 | - | 1 |
16-29824409-AAG-TTT | c.34_36delinsTTT | p.K12F | Missense | 2/4 | - | 1 |
16-29824410-A-G | c.35A>G | p.K12R | Missense | 2/4 | - | 2 |
16-29824412-G-A | c.37G>A | p.G13R | Missense | 2/4 | - | 1 |
16-29824412-G-C | c.37G>C | p.G13R | Missense | 2/4 | - | 1 |
16-29824412-GGG-AGC | c.37_39delinsAGC | p.G13S | Missense | 2/4 | - | 1 |
16-29824413-G-C | c.38G>C | p.G13A | Missense | 2/4 | - | 1 |
16-29824413-GG-AC | c.38_39delinsAC | p.G13D | Missense | 2/4 | - | 2 |
16-29824413-G-T | c.38G>T | p.G13V | Missense | 2/4 | - | 1 |
16-29824419-A-C | c.44A>C | p.E15A | Missense | 2/4 | - | 4 |
16-29824421-GAG-TGT | c.46_48delinsTGT | p.E16C | Missense | 2/4 | - | 1 |
16-29824421-G-T | c.46G>T | p.E16* | Nonsense | 2/4 | - | 1 |
16-29824422-A-C | c.47A>C | p.E16A | Missense | 2/4 | - | 1 |
16-29824423-G-C | c.48G>C | p.E16D | Missense | 2/4 | - | 1 |
16-29824423-G-T | c.48G>T | p.E16D | Missense | 2/4 | - | 1 |
16-29824424-AG-GA | c.49_50delinsGA | p.S17D | Missense | 2/4 | - | 1 |
16-29824424-AG-GC | c.49_50delinsGC | p.S17A | Missense | 2/4 | - | 10 |
16-29824424-AGT-GAG | c.49_51delinsGAG | p.S17E | Missense | 2/4 | - | 2 |
16-29824424-A-T | c.49A>T | p.S17C | Missense | 2/4 | - | 2 |
16-29824425-G-A | c.50G>A | p.S17N | Missense | 2/4 | - | 21 |
16-29824427-C-A | c.52C>A | p.P18T | Missense | 2/4 | - | 1 |
16-29824428-C-T | c.53C>T | p.P18L | Missense | 2/4 | - | 1 |
16-29824430-AA-GC | c.55_56delinsGC | p.K19A | Missense | 2/4 | - | 7 |
16-29824430-AAG-TAT | c.55_57delinsTAT | p.K19Y | Missense | 2/4 | - | 1 |
16-29824431-A-C | c.56A>C | p.K19T | Missense | 2/4 | - | 1 |
16-29824431-A-G | c.56A>G | p.K19R | Missense | 2/4 | - | 1 |
16-29824431-A-T | c.56A>T | p.K19M | Missense | 2/4 | - | 1 |
16-29824436-CC-TA | c.61_62delinsTA | p.P21* | Nonsense | 2/4 | - | 1 |
16-29824436-C-G | c.61C>G | p.P21A | Missense | 2/4 | - | 1 |
16-29824436-C-T | c.61C>T | p.P21S | Missense | 2/4 | - | 1 |
16-29824438-A-C | c.63A>C | p.P21= | Synonymous | 2/4 | - | 1 |
16-29824438-A-G | c.63A>G | p.P21= | Synonymous | 2/4 | - | 1 |
16-29824438-A-T | c.63A>T | p.P21= | Synonymous | 2/4 | - | 1 |
16-29824440-G-C | c.65G>C | p.G22A | Missense | 2/4 | - | 1 |
16-29824442-G-A | c.67G>A | p.E23K | Missense | 2/4 | - | 8 |
16-29824442-GA-CT | c.67_68delinsCT | p.E23L | Missense | 2/4 | - | 1 |
16-29824443-A-C | c.68A>C | p.E23A | Missense | 2/4 | - | 1 |
16-29824446-GG-AC | c.71_72delinsAC | p.G24D | Missense | 2/4 | - | 1 |
16-29824446-G-T | c.71G>T | p.G24V | Missense | 2/4 | - | 1 |
16-29824449-C-T | c.74C>T | p.P25L | Missense | 2/4 | - | 1 |
16-29824457-T-C | c.82T>C | p.S28P | Missense | 2/4 | - | 1 |
16-29824457-TC-AA | c.82_83delinsAA | p.S28N | Missense | 2/4 | - | 4 |
16-29824457-TC-GA | c.82_83inv | p.S28D | Missense | 2/4 | - | 2 |
16-29824457-TCT-GAG | c.82_84delinsGAG | p.S28E | Missense | 2/4 | - | 1 |
16-29824457-T-G | c.82T>G | p.S28A | Missense | 2/4 | - | 7 |
16-29824460-G-A | c.85G>A | p.E29K | Missense | 2/4 | - | 1 |
16-29824461-A-C | c.86A>C | p.E29A | Missense | 2/4 | - | 1 |
16-29824462-A-G | c.87A>G | p.E29= | Synonymous | 2/4 | - | 1 |
16-29824463-G-C | c.88G>C | p.A30P | Missense | 2/4 | - | 15 |
16-29824463-GC-TT | c.88_89delinsTT | p.A30F | Missense | 2/4 | - | 1 |
16-29824464-C-A | c.89C>A | p.A30D | Missense | 2/4 | - | 2 |
16-29824464-CT-AG | c.89_90inv | p.A30E | Missense | 2/4 | - | 1 |
16-29824467-A-C | c.92A>C | p.E31A | Missense | 2/4 | - | 1 |
16-29824475-CC-GG | c.100_101inv | p.P34G | Missense | 2/4 | - | 1 |
16-29824478-CC-GG | c.103_104inv | p.P35G | Missense | 2/4 | - | 16 |
16-29824484-GT-TG | c.109_110delinsTG | p.V37C | Missense | 2/4 | - | 1 |
16-29824487-CTA-GAC | c.112_114delinsGAC | p.L38D | Missense | 2/4 | - | 1 |
16-29824488-T-C | c.113T>C | p.L38P | Missense | 2/4 | - | 1 |
16-29824492-A-C | c.117A>C | p.A39= | Synonymous | 2/4 | - | 2 |
16-29824492-A-G | c.117A>G | p.A39= | Synonymous | 2/4 | - | 2 |
16-29824492-A-T | c.117A>T | p.A39= | Synonymous | 2/4 | - | 2 |
16-29824502-GAC-TAA | c.127_129delinsTAA | p.D43* | Nonsense | 2/4 | - | 1 |
16-29824503-A-G | c.128A>G | p.D43G | Missense | 2/4 | - | 1 |
16-29824505-C-G | c.130C>G | p.Q44E | Missense | 2/4 | - | 1 |
16-29824503-ACCAG-A | c.133_136del | p.P45Rfs*44 | Frameshift | 2/4 | - | 1 |
16-29824508-C-T | c.133C>T | p.P45S | Missense | 2/4 | - | 1 |
16-29824511-G-A | c.136G>A | p.E46K | Missense | 2/4 | - | 9 |
16-29824514-GC-TG | c.139_140delinsTG | p.A47C | Missense | 2/4 | - | 1 |
16-29824514-GC-TT | c.139_140delinsTT | p.A47F | Missense | 2/4 | - | 2 |
16-29824515-C-A | c.140C>A | p.A47D | Missense | 2/4 | - | 2 |
16-29824518-C-G | c.143C>G | p.P48R | Missense | 2/4 | - | 1 |
16-29824520-C-T | c.145C>T | p.Q49* | Nonsense | 2/4 | - | 1 |
16-29824522-G-C | c.147G>C | p.Q49H | Missense | 2/4 | - | 1 |
16-29824522-G-T | c.147G>T | p.Q49H | Missense | 2/4 | - | 1 |
16-29824523-CC-AT | c.148_149delinsAT | p.P50I | Missense | 2/4 | - | 2 |
16-29824523-CC-GG | c.148_149inv | p.P50G | Missense | 2/4 | - | 2 |
16-29824527-G-A | c.152G>A | p.G51D | Missense | 2/4 | - | 2 |
16-29824535-ACC-GAG | c.160_162delinsGAG | p.T54E | Missense | 2/4 | - | 1 |
16-29824535-AC-TG | c.160_161delinsTG | p.T54C | Missense | 2/4 | - | 1 |
16-29824535-AC-TT | c.160_161delinsTT | p.T54F | Missense | 2/4 | - | 1 |
16-29824535-A-G | c.160A>G | p.T54A | Missense | 2/4 | - | 2 |
16-29824538-A-G | c.163A>G | p.T55A | Missense | 2/4 | - | 1 |
16-29824539-CT-GG | c.164_165delinsGG | p.T55R | Missense | 2/4 | - | 1 |
16-29824541-GCG-TGT | c.166_168delinsTGT | p.A56C | Missense | 2/4 | - | 1 |
16-29824542-C-A | c.167C>A | p.A56E | Missense | 2/4 | - | 3 |
16-29824542-C-G | c.167C>G | p.A56G | Missense | 2/4 | - | 1 |
16-29824544-G-A | c.169G>A | p.A57T | Missense | 2/4 | - | 1 |
16-29824544-GC-TG | c.169_170delinsTG | p.A57C | Missense | 2/4 | - | 1 |
16-29824546-C-A | c.171C>A | p.A57= | Synonymous | 2/4 | - | 1 |
16-29824546-C-G | c.171C>G | p.A57= | Synonymous | 2/4 | - | 1 |
16-29824546-C-T | c.171C>T | p.A57= | Synonymous | 2/4 | - | 1 |
16-29824547-C-A | c.172C>A | p.P58T | Missense | 2/4 | - | 1 |
16-29824553-GA-AT | c.178_179delinsAT | p.D60I | Missense | 2/4 | - | 1 |
16-29824553-GAC-AAG | c.178_180delinsAAG | p.D60K | Missense | 2/4 | - | 2 |
16-29824553-GA-TG | c.178_179delinsTG | p.D60C | Missense | 2/4 | - | 1 |
16-29824556-TC-GA | c.181_182inv | p.S61E | Missense | 2/4 | - | 2 |
16-29824556-T-G | c.181T>G | p.S61A | Missense | 2/4 | - | 1 |
16-29824558-A-C | c.183A>C | p.S61= | Synonymous | 2/4 | - | 1 |
16-29824558-A-G | c.183A>G | p.S61= | Synonymous | 2/4 | - | 1 |
16-29824558-A-T | c.183A>T | p.S61= | Synonymous | 2/4 | - | 1 |
16-29824562-CCC-GAG | c.187_189delinsGAG | p.P63E | Missense | 2/4 | - | 1 |
16-29824562-C-G | c.187C>G | p.P63A | Missense | 2/4 | - | 2 |
16-29824561-GCC-G | c.188_189del | p.P63Qfs*70 | Frameshift | 2/4 | - | 2 |
16-29824565-AA-GG | c.190_191delinsGG | p.K64G | Missense | 2/4 | - | 1 |
16-29824565-AAG-GAC | c.190_192delinsGAC | p.K64D | Missense | 2/4 | - | 1 |
16-29824568-GC-TG | c.193_194delinsTG | p.A65C | Missense | 2/4 | - | 1 |
16-29824569-C-A | c.194C>A | p.A65D | Missense | 2/4 | - | 1 |
16-29824570-T-A | c.195T>A | p.A65= | Synonymous | 2/4 | - | 2 |
16-29824570-T-C | c.195T>C | p.A65= | Synonymous | 2/4 | - | 2 |
16-29824570-T-G | c.195T>G | p.A65= | Synonymous | 2/4 | - | 2 |
16-29824575-T-C | c.200T>C | p.L67P | Missense | 2/4 | - | 2 |
16-29824575-T-G | c.200T>G | p.L67R | Missense | 2/4 | - | 1 |
16-29824578-CT-AG | c.203_204inv | p.A68E | Missense | 2/4 | - | 2 |
16-29824583-G-A | c.208G>A | p.E70K | Missense | 2/4 | - | 1 |
16-29824586-ACC-GAG | c.211_213delinsGAG | p.T71E | Missense | 2/4 | - | 1 |
16-29824586-A-G | c.211A>G | p.T71A | Missense | 2/4 | - | 1 |
16-29824589-ACA-GAC | c.214_216delinsGAC | p.T72D | Missense | 2/4 | - | 1 |
16-29824589-AC-GA | c.214_215delinsGA | p.T72E | Missense | 2/4 | - | 1 |
16-29824589-A-G | c.214A>G | p.T72A | Missense | 2/4 | - | 1 |
16-29824595-A-G | c.220A>G | p.T74A | Missense | 2/4 | - | 1 |
16-29824598-C-A | c.223C>A | p.P75T | Missense | 2/4 | - | 1 |
16-29824599-C-G | c.224C>G | p.P75R | Missense | 2/4 | - | 1 |
16-29824599-C-T | c.224C>T | p.P75L | Missense | 2/4 | - | 1 |
16-29824600-G-A | c.225G>A | p.P75= | Synonymous | 2/4 | - | 2 |
16-29824600-G-C | c.225G>C | p.P75= | Synonymous | 2/4 | - | 2 |
16-29824600-G-T | c.225G>T | p.P75= | Synonymous | 2/4 | - | 2 |
16-29824601-GC-TT | c.226_227delinsTT | p.A76F | Missense | 2/4 | - | 2 |
16-29824607-G-A | c.232G>A | p.A78T | Missense | 2/4 | - | 1 |
16-29824608-C-A | c.233C>A | p.A78D | Missense | 2/4 | - | 1 |
16-29824610-T-G | c.235T>G | p.S79A | Missense | 2/4 | - | 3 |
16-29824611-C-T | c.236C>T | p.S79L | Missense | 2/4 | - | 1 |
16-29824613-GA-AT | c.238_239delinsAT | p.E80I | Missense | 2/4 | - | 7 |
16-29824616-ACA-GAC | c.241_243delinsGAC | p.T81D | Missense | 2/4 | - | 1 |
16-29824616-A-G | c.241A>G | p.T81A | Missense | 2/4 | - | 2 |
16-29824620-C-A | c.245C>A | p.A82D | Missense | 2/4 | - | 1 |
16-29824621-C-A | c.246C>A | p.A82= | Synonymous | 2/4 | - | 1 |
16-29824621-C-G | c.246C>G | p.A82= | Synonymous | 2/4 | - | 1 |
16-29824621-C-T | c.246C>T | p.A82= | Synonymous | 2/4 | - | 1 |
16-29824626-CC-AG | c.251_252delinsAG | p.A84E | Missense | 2/4 | - | 1 |
16-29824627-C-A | c.252C>A | p.A84= | Synonymous | 2/4 | - | 1 |
16-29824627-C-G | c.252C>G | p.A84= | Synonymous | 2/4 | - | 1 |
16-29824627-C-T | c.252C>T | p.A84= | Synonymous | 2/4 | - | 1 |
16-29824628-ACA-GAC | c.253_255delinsGAC | p.T85D | Missense | 2/4 | - | 1 |
16-29824628-AC-GA | c.253_254delinsGA | p.T85E | Missense | 2/4 | - | 1 |
16-29824628-A-G | c.253A>G | p.T85A | Missense | 2/4 | - | 2 |
16-29824632-A-C | c.257A>C | p.D86A | Missense | 2/4 | - | 1 |
16-29824637-AGC-TGA | c.262_264delinsTGA | p.S88* | Nonsense | 2/4 | - | 3 |
16-29824638-AG-A | c.263del | p.S88Tfs*2 | Frameshift | 2/4 | - | 1 |
16-29824640-TTA-ATG | c.265_267delinsATG | p.L89M | Missense | 2/4 | - | 1 |
16-29824643-AG-CC | c.268_269delinsCC | p.S90P | Missense | 2/4 | - | 1 |
16-29824643-AGC-GAG | c.268_270delinsGAG | p.S90E | Missense | 2/4 | - | 1 |
16-29824643-AG-GC | c.268_269delinsGC | p.S90A | Missense | 2/4 | - | 1 |
16-29824646-C-G | c.271C>G | p.P91A | Missense | 2/4 | - | 2 |
16-29824644-GC-G | c.272del | p.P91Qfs*24 | Frameshift | 2/4 | - | 2 |
16-29824652-GGG-AGC | c.277_279delinsAGC | p.G93S | Missense | 2/4 | - | 1 |
16-29824653-G-C | c.278G>C | p.G93A | Missense | 2/4 | - | 99 |
16-29824656-A-T | c.281A>T | p.E94V | Missense | 2/4 | - | 1 |
16-29824659-C-G | c.284C>G | p.S95* | Nonsense | 2/4 | - | 1 |
16-29824664-GCC-ATG | c.289_291delinsATG | p.A97M | Missense | 2/4 | - | 1 |
16-29824665-C-A | c.290C>A | p.A97D | Missense | 2/4 | - | 2 |
16-29824668-A-G | c.293A>G | p.N98S | Missense | 2/4 | - | 1 |
16-29824669-C-T | c.294C>T | p.N98= | Synonymous | 2/4 | - | 1 |
16-29824670-T-C | c.295T>C | p.C99R | Missense | 2/4 | - | 1 |
16-29824670-TG-AA | c.295_296delinsAA | p.C99N | Missense | 2/4 | - | 1 |
16-29824670-TG-GC | c.295_296delinsGC | p.C99A | Missense | 2/4 | - | 1 |
16-29824673-A-G | c.298A>G | p.S100G | Missense | 2/4 | - | 8 |
16-29824673-AG-CC | c.298_299delinsCC | p.S100P | Missense | 2/4 | - | 14 |
16-29824673-AG-CT | c.298_299inv | p.S100L | Missense | 2/4 | - | 1 |
16-29824673-AG-GC | c.298_299delinsGC | p.S100A | Missense | 2/4 | - | 11 |
16-29824673-A-T | c.298A>T | p.S100C | Missense | 2/4 | - | 3 |
16-29824675-C-T | c.300C>T | p.S100= | Synonymous | 2/4 | - | 1 |
16-29824677-C-T | c.302C>T | p.P101L | Missense | 2/4 | - | 1 |
16-29824681-A-C | c.306A>C | p.E102D | Missense | 2/4 | - | 1 |
16-29824681-A-T | c.306A>T | p.E102D | Missense | 2/4 | - | 1 |
16-29824686-C-T | c.311C>T | p.P104L | Missense | 2/4 | - | 2 |
16-29824688-T-A | c.313T>A | p.C105S | Missense | 2/4 | - | 1 |
16-29824688-TG-CA | c.313_314inv | p.C105H | Missense | 2/4 | - | 1 |
16-29824689-G-C | c.314G>C | p.C105S | Missense | 2/4 | - | 1 |
16-29824697-AC-GA | c.322_323delinsGA | p.T108E | Missense | 2/4 | - | 1 |
16-29824697-A-G | c.322A>G | p.T108A | Missense | 2/4 | - | 4 |
16-29824696-AAC-A | c.323_324del | p.T108Sfs*25 | Frameshift | 2/4 | - | 2 |
16-29824694-GAAACAGTGTCC-G | c.324_334del | p.V109Rfs*21 | Frameshift | 2/4 | - | 1 |
16-29824703-TC-CG | c.328_329delinsCG | p.S110R | Missense | 2/4 | - | 1 |
16-29824703-TC-GA | c.328_329inv | p.S110D | Missense | 2/4 | - | 1 |
16-29824703-T-G | c.328T>G | p.S110A | Missense | 2/4 | - | 5 |
16-29824706-A-C | c.331A>C | p.K111Q | Missense | 2/4 | - | 1 |
16-29824708-A-C | c.333A>C | p.K111N | Missense | 2/4 | - | 1 |
16-29824708-A-T | c.333A>T | p.K111N | Missense | 2/4 | - | 1 |
16-29824710-C-T | c.335C>T | p.P112L | Missense | 2/4 | - | 1 |
16-29824712-G-C | c.337G>C | p.E113Q | Missense | 2/4 | - | 1 |
16-29824714-AGT-A | c.341_342del | p.V114Efs*19 | Frameshift | 2/4 | - | 1 |
16-29824716-T-C | c.341T>C | p.V114A | Missense | 2/4 | - | 2 |
16-29824718-AG-GA | c.343_344delinsGA | p.S115D | Missense | 2/4 | - | 2 |
16-29824718-AG-GC | c.343_344delinsGC | p.S115A | Missense | 2/4 | - | 2 |
16-29824719-GC-AG | c.344_345delinsAG | p.S115K | Missense | 2/4 | - | 1 |
16-29824722-A-G | c.347A>G | p.K116R | Missense | 2/4 | - | 2 |
16-29824724-G-A | c.349G>A | p.E117K | Missense | 2/4 | - | 1 |
16-29824725-A-C | c.350A>C | p.E117A | Missense | 2/4 | - | 1 |
16-29824725-A-G | c.350A>G | p.E117G | Missense | 2/4 | - | 1 |
16-29824727-G-A | c.352G>A | p.A118T | Missense | 2/4 | - | 1 |
16-29824728-CC-AG | c.353_354delinsAG | p.A118E | Missense | 2/4 | - | 1 |
16-29824728-C-G | c.353C>G | p.A118G | Missense | 2/4 | - | 7 |
16-29824730-A-G | c.355A>G | p.T119A | Missense | 2/4 | - | 1 |
16-29824734-C-A | c.359C>A | p.A120E | Missense | 2/4 | - | 4 |
16-29824734-CA-AC | c.359_360delinsAC | p.A120D | Missense | 2/4 | - | 1 |
16-29824739-CA-GC | c.364_365delinsGC | p.Q122A | Missense | 2/4 | - | 1 |
16-29824740-A-AG | c.369dup | p.S124Vfs*10 | Frameshift | 2/4 | - | 3 |
16-29824745-TC-GA | c.370_371inv | p.S124D | Missense | 2/4 | - | 1 |
16-29824745-T-G | c.370T>G | p.S124A | Missense | 2/4 | - | 5 |
16-29824748-AGG-CAT | c.373_375delinsCAT | p.R125H | Missense | 2/4 | - | 1 |
16-29824748-AGG-TGT | c.373_375delinsTGT | p.R125C | Missense | 2/4 | - | 2 |
16-29824748-A-T | c.373A>T | p.R125W | Missense | 2/4 | - | 1 |
16-29824749-GG-TC | c.374_375delinsTC | p.R125I | Missense | 2/4 | - | 1 |
16-29824756-G-A | c.381G>A | p.E127= | Synonymous | 2/4 | - | 1 |
16-29824757-TC-GA | c.382_383inv | p.S128D | Missense | 2/4 | - | 1 |
16-29824757-T-G | c.382T>G | p.S128A | Missense | 2/4 | - | 4 |
16-29824761-C-A | c.386C>A | p.A129E | Missense | 2/4 | - | 2 |
16-29824761-C-CA | c.387dup | p.A130Sfs*4 | Frameshift | 2/4 | - | 1 |
16-29824764-C-T | c.389C>T | p.A130V | Missense | 2/4 | - | 1 |
16-29824769-CC-AT | c.394_395delinsAT | p.P132I | Missense | 2/4 | - | 1 |
16-29824769-CC-GG | c.394_395inv | p.P132G | Missense | 2/4 | - | 1 |
16-29824769-CC-GT | c.394_395delinsGT | p.P132V | Missense | 2/4 | - | 1 |
16-29824769-CC-TT | c.394_395delinsTT | p.P132F | Missense | 2/4 | - | 1 |
16-29824769-CCT-TGG | c.394_396delinsTGG | p.P132W | Missense | 2/4 | - | 1 |
16-29824769-C-G | c.394C>G | p.P132A | Missense | 2/4 | - | 1 |
16-29824770-C-T | c.395C>T | p.P132L | Missense | 2/4 | - | 5 |
16-29824772-GA-AC | c.397_398delinsAC | p.E133T | Missense | 2/4 | - | 1 |
16-29824772-G-C | c.397G>C | p.E133Q | Missense | 2/4 | - | 3 |
16-29824786-G-C | c.411G>C | p.E137D | Missense | 2/4 | - | 2 |
16-29824786-G-T | c.411G>T | p.E137D | Missense | 2/4 | - | 2 |
16-29824787-C-G | c.412C>G | p.P138A | Missense | 2/4 | - | 8 |
16-29824793-C-G | c.418C>G | p.P140A | Missense | 2/4 | - | 1 |
16-29824800-C-T | c.425C>T | p.P142L | Missense | 2/4 | - | 1 |
16-29824805-C-A | c.430C>A | p.P144T | Missense | 2/4 | - | 1 |
16-29824808-C-G | c.433C>G | p.R145G | Missense | 2/4 | - | 10 |
16-29824808-CGG-ATC | c.433_435delinsATC | p.R145I | Missense | 2/4 | - | 1 |
16-29824808-C-T | c.433C>T | p.R145W | Missense | 2/4 | - | 6 |
16-29824809-G-A | c.434G>A | p.R145Q | Missense | 2/4 | - | 6 |
16-29824811-C-T | c.436C>T | p.P146S | Missense | 2/4 | - | 1 |
16-29824814-G-C | c.439G>C | p.D147H | Missense | 2/4 | - | 5 |
16-29824814-G-T | c.439G>T | p.D147Y | Missense | 2/4 | - | 1 |
16-29824817-T-G | c.442T>G | p.S148A | Missense | 2/4 | - | 2 |
16-29824824-C-T | c.449C>T | p.P150L | Missense | 2/4 | - | 1 |
16-29824825-T-A | c.450T>A | p.P150= | Synonymous | 2/4 | - | 1 |
16-29824825-T-C | c.450T>C | p.P150= | Synonymous | 2/4 | - | 1 |
16-29824825-T-G | c.450T>G | p.P150= | Synonymous | 2/4 | - | 1 |
16-29824826-AC-CT | c.451_452delinsCT | p.T151L | Missense | 2/4 | - | 1 |
16-29824827-C-A | c.452C>A | p.T151N | Missense | 2/4 | - | 1 |
16-29824826-AC-A | c.456del | p.K153Sfs*23 | Frameshift | 2/4 | - | 1 |
16-29824832-AA-GC | c.457_458delinsGC | p.K153A | Missense | 2/4 | - | 1 |
16-29824834-G-C | c.459G>C | p.K153N | Missense | 2/4 | - | 1 |
16-29824834-G-T | c.459G>T | p.K153N | Missense | 2/4 | - | 1 |
16-29824835-CC-GG | c.460_461inv | p.P154G | Missense | 2/4 | - | 2 |
16-29824835-C-T | c.460C>T | p.P154S | Missense | 2/4 | - | 1 |
16-29824842-T-G | c.467T>G | p.L156R | Missense | 2/4 | - | 1 |
16-29824850-G-C | c.475G>C | p.E159Q | Missense | 2/4 | - | 1 |
16-29824859-AC-GA | c.484_485delinsGA | p.T162D | Missense | 2/4 | - | 3 |
16-29824859-A-G | c.484A>G | p.T162A | Missense | 2/4 | - | 3 |
16-29824862-CA-GC | c.487_488delinsGC | p.Q163A | Missense | 2/4 | - | 1 |
16-29824862-C-T | c.487C>T | p.Q163* | Nonsense | 2/4 | - | 6 |
16-29824863-AG-A | c.490del | p.E164Rfs*12 | Frameshift | 2/4 | - | 1 |
16-29824865-G-A | c.490G>A | p.E164K | Missense | 2/4 | - | 1 |
16-29824866-A-C | c.491A>C | p.E164A | Missense | 2/4 | - | 1 |
16-29824869-A-G | c.494A>G | p.D165G | Missense | 2/4 | - | 1 |
16-29824874-ACC-GAG | c.499_501delinsGAG | p.T167E | Missense | 2/4 | - | 1 |
16-29824874-AC-GA | c.499_500delinsGA | p.T167D | Missense | 2/4 | - | 1 |
16-29824874-A-G | c.499A>G | p.T167A | Missense | 2/4 | - | 2 |
16-29824875-C-T | c.500C>T | p.T167I | Missense | 2/4 | - | 2 |
16-29824876-C-T | c.501C>T | p.T167= | Synonymous | 2/4 | - | 1 |
16-29824877-CCT-AAG | c.502_504delinsAAG | p.P168K | Missense | 2/4 | - | 1 |
16-29824887-T-TGC | c.513_514insCG | p.S172Rfs*5 | Frameshift | 2/4 | - | 1 |
16-29824884-TTCTG-T | c.514_517del | p.S172Rfs*3 | Frameshift | 2/4 | - | 4 |
16-29824889-TC-GA | c.514_515inv | p.S172D | Missense | 2/4 | - | 1 |
16-29824889-TCT-GAG | c.514_516delinsGAG | p.S172E | Missense | 2/4 | - | 3 |
16-29824889-T-G | c.514T>G | p.S172A | Missense | 2/4 | - | 4 |
16-29824892-G-T | c.517G>T | p.E173* | Nonsense | 2/4 | - | 2 |
16-29824895-AG-GA | c.520_521delinsGA | p.S174D | Missense | 2/4 | - | 1 |
16-29824895-AG-GC | c.520_521delinsGC | p.S174A | Missense | 2/4 | - | 3 |
16-29824895-AGT-GAG | c.520_522delinsGAG | p.S174E | Missense | 2/4 | - | 1 |
16-29824897-T-G | c.522T>G | p.S174R | Missense | 2/4 | - | 2 |
16-29824898-GTA-CAT | c.523_525delinsCAT | p.V175H | Missense | 2/4 | - | 1 |
16-29824904-G-A | c.529G>A | p.E177K | Missense | 2/4 | - | 1 |
16-29824904-GA-AG | c.529_530delinsAG | p.E177R | Missense | 2/4 | - | 1 |
16-29824905-A-T | c.530A>T | p.E177V | Missense | 2/4 | - | 1 |
16-29824907-AAAG-A | c.532_534del | p.K178del | InFrameDeletion | 2/4 | - | 1 |
16-29824907-AAG-GAC | c.532_534delinsGAC | p.K178D | Missense | 2/4 | - | 1 |
16-29824907-A-G | c.532A>G | p.K178E | Missense | 2/4 | - | 3 |
16-29824913-G-A | c.538G>A | p.E180K | Missense | 2/4 | - | 1 |
16-29824913-G-C | c.538G>C | p.E180Q | Missense | 2/4 | - | 1 |
16-29824914-A-G | c.539A>G | p.E180G | Missense | 2/4 | - | 9 |
16-29824914-A-T | c.539A>T | p.E180V | Missense | 2/4 | - | 1 |
16-29824919-GGG-AGC | c.544_546delinsAGC | p.G182S | Missense | 2/4 | - | 1 |
16-29824925-GT-TC | c.550_551delinsTC | p.V184S | Missense | 2/4 | - | 1 |
16-29824928-GTG-ATC | c.553_555delinsATC | p.V185I | Missense | 2/4 | - | 1 |
16-29824931-C-A | c.556C>A | p.P186T | Missense | 2/4 | - | 1 |
16-29824932-C-T | c.557C>T | p.P186L | Missense | 2/4 | - | 1 |
16-29824934-C-CT | c.560dup | p.Q188Afs*4 | Frameshift | 2/4 | - | 1 |
16-29824937-C-T | c.562C>T | p.Q188* | Nonsense | 2/4 | - | 1 |
16-29824947-A-AT | c.573dup | p.G192Wfs*8 | Frameshift | 2/4 | - | 4 |
16-29824949-G-T | c.574G>T | p.G192W | Missense | 2/4 | - | 1 |
16-29824950-GG-AC | c.575_576delinsAC | p.G192D | Missense | 2/4 | - | 1 |
16-29824952-G-T | c.577G>T | p.E193* | Nonsense | 2/4 | - | 1 |
16-29824956-A-C | c.581A>C | p.E194A | Missense | 2/4 | - | 2 |
16-29824968-CCT-C | c.593_594del | p.P198Rfs*26 | Frameshift | 2/4 | - | 2 |
16-29824968-C-T | c.593C>T | p.P198L | Missense | 2/4 | - | 4 |
16-29824970-G-A | c.595G>A | p.E199K | Missense | 2/4 | - | 1 |
16-29824970-G-T | c.595G>T | p.E199* | Nonsense | 2/4 | - | 3 |
16-29824973-CCTCA-C | c.604_607del | p.S202Hfs*26 | Frameshift | 2/4 | - | 3 |
16-29824979-TC-GA | c.604_605inv | p.S202E | Missense | 2/4 | - | 1 |
16-29824980-C-T | c.605C>T | p.S202L | Missense | 2/4 | - | 1 |
16-29824982-C-G | c.607C>G | p.P203A | Missense | 2/4 | - | 2 |
16-29824988-TC-GT | c.613_614delinsGT | p.S205V | Missense | 2/4 | - | 1 |
16-29824988-T-G | c.613T>G | p.S205A | Missense | 2/4 | - | 5 |
16-29824991-AA-GC | c.616_617delinsGC | p.K206A | Missense | 2/4 | - | 1 |
16-29824991-A-C | c.616A>C | p.K206Q | Missense | 2/4 | - | 7 |
16-29824992-A-G | c.617A>G | p.K206R | Missense | 2/4 | - | 1 |
16-29824993-A-C | c.618A>C | p.K206N | Missense | 2/4 | - | 1 |
16-29824993-A-T | c.618A>T | p.K206N | Missense | 2/4 | - | 1 |
16-29824996-A-C | c.621A>C | p.K207N | Missense | 2/4 | - | 1 |
16-29824996-A-T | c.621A>T | p.K207N | Missense | 2/4 | - | 1 |
16-29824997-TCC-GAG | c.622_624delinsGAG | p.S208E | Missense | 2/4 | - | 1 |
16-29824997-T-G | c.622T>G | p.S208A | Missense | 2/4 | - | 3 |
16-29824998-C-A | c.623C>A | p.S208Y | Missense | 2/4 | - | 1 |
16-29824998-C-G | c.623C>G | p.S208C | Missense | 2/4 | - | 1 |
16-29824997-TC-T | c.629del | p.P210Qfs*19 | Frameshift | 2/4 | - | 1 |
16-29824997-T-TC | c.629dup | p.A211Sfs*14 | Frameshift | 2/4 | - | 5 |
16-29825004-C-CA | c.630dup | p.A211Sfs*14 | Frameshift | 2/4 | - | 1 |
16-29825012-G-A | c.637G>A | p.G213R | Missense | 2/4 | - | 1 |
16-29825012-G-C | c.637G>C | p.G213R | Missense | 2/4 | - | 1 |
16-29825013-GG-AC | c.638_639delinsAC | p.G213D | Missense | 2/4 | - | 1 |
16-29825015-G-C | c.640G>C | p.A214P | Missense | 2/4 | - | 5 |
16-29825018-C-A | c.643C>A | p.P215T | Missense | 2/4 | - | 1 |
16-29825019-C-A | c.644C>A | p.P215H | Missense | 2/4 | - | 1 |
16-29825019-C-G | c.644C>G | p.P215R | Missense | 2/4 | - | 6 |
16-29825020-C-A | c.645C>A | p.P215= | Synonymous | 2/4 | - | 1 |
16-29825020-C-G | c.645C>G | p.P215= | Synonymous | 2/4 | - | 1 |
16-29825020-C-T | c.645C>T | p.P215= | Synonymous | 2/4 | - | 1 |
16-29825021-C-G | c.646C>G | p.P216A | Missense | 2/4 | - | 1 |
16-29825022-C-A | c.647C>A | p.P216H | Missense | 2/4 | - | 5 |
16-29825022-C-G | c.647C>G | p.P216R | Missense | 2/4 | - | 1 |
16-29825022-C-T | c.647C>T | p.P216L | Missense | 2/4 | - | 7 |
16-29825015-GC-G | c.649del | p.R217Efs*12 | Frameshift | 2/4 | - | 19 |
16-29825015-G-GC | c.649dup | p.R217Pfs*8 | Frameshift | 2/4 | - | 95 |
16-29825024-C-G | c.649C>G | p.R217G | Missense | 2/4 | - | 1 |
16-29825024-CG-AA | c.649_650delinsAA | p.R217K | Missense | 2/4 | - | 1 |
16-29825024-CG-GC | c.649_650delinsGC | p.R217A | Missense | 2/4 | - | 2 |
16-29825024-C-T | c.649C>T | p.R217* | Nonsense | 2/4 | - | 8 |
16-29825025-CG-C | c.650del | p.R217Qfs*12 | Frameshift | 2/4 | - | 2 |
16-29825025-G-A | c.650G>A | p.R217Q | Missense | 2/4 | - | 3 |
16-29825025-GAGTGCTGCAGCAGCTGGTTG-CAATGGTGCCACCACTGGGTTA | c.650_670delinsCAATGGTGCCACCACTGGGTTA | p.R217Pfs*8 | Frameshift | 2/4 | - | 1 |
16-29825025-G-C | c.650G>C | p.R217P | Missense | 2/4 | - | 4 |
16-29825025-G-T | c.650G>T | p.R217L | Missense | 2/4 | - | 1 |
16-29825039-C-G | c.664C>G | p.L222V | Missense | 2/4 | - | 1 |
16-29825039-CTG-ATC | c.664_666delinsATC | p.L222I | Missense | 2/4 | - | 1 |
16-29825039-CT-GC | c.664_665delinsGC | p.L222A | Missense | 2/4 | - | 1 |
16-29825039-CTG-TTT | c.664_666delinsTTT | p.L222F | Missense | 2/4 | - | 1 |
16-29825040-T-C | c.665T>C | p.L222P | Missense | 2/4 | - | 2 |
16-29825051-GAT-AAG | c.676_678delinsAAG | p.D226K | Missense | 2/4 | - | 1 |
16-29825054-CG-GA | c.679_680delinsGA | p.R227E | Missense | 2/4 | - | 1 |
16-29825054-C-T | c.679C>T | p.R227* | Nonsense | 2/4 | - | 1 |
16-29825060-AG-CT | c.685_686inv | p.R229L | Missense | 2/4 | - | 1 |
16-29825060-AG-GC | c.685_686delinsGC | p.R229A | Missense | 2/4 | - | 1 |
16-29825061-G-A | c.686G>A | p.R229K | Missense | 2/4 | - | 2 |
16-29825063-AG-CA | c.688_689delinsCA | p.R230Q | Missense | 2/4 | - | 2 |
16-29825063-AGG-TGT | c.688_690delinsTGT | p.R230C | Missense | 2/4 | - | 1 |
16-29825064-G-A | c.689G>A | p.R230K | Missense | 2/4 | - | 1 |
16-29825068-A-AC | c.694dup | p.H232Pfs*11 | Frameshift | 2/4 | - | 1 |
16-29825072-AG-GC | c.697_698delinsGC | p.S233A | Missense | 2/4 | - | 1 |
16-29825072-AGT-TGG | c.697_699delinsTGG | p.S233W | Missense | 2/4 | - | 1 |
16-29825084-G-A | c.709G>A | p.G237R | Missense | 2/4 | - | 1 |
16-29825085-GA-AC | c.710_711delinsAC | p.G237D | Missense | 2/4 | - | 1 |
16-29825087-TC-GA | c.712_713inv | p.S238D | Missense | 2/4 | - | 1 |
16-29825087-T-G | c.712T>G | p.S238A | Missense | 2/4 | - | 1 |
16-29825093-CG-AA | c.718_719delinsAA | p.R240K | Missense | 2/4 | - | 1 |
16-29825093-CGA-TGG | c.718_720delinsTGG | p.R240W | Missense | 2/4 | - | 1 |
16-29825093-C-T | c.718C>T | p.R240* | Nonsense | 2/4 | - | 6 |
16-29825094-G-A | c.719G>A | p.R240Q | Missense | 2/4 | - | 1 |
16-29825096-G-A | c.721G>A | p.G241S | Missense | 2/4 | - | 1 |
16-29825099-AG-GA | c.724_725delinsGA | p.S242D | Missense | 2/4 | - | 1 |
16-29825099-AG-GC | c.724_725delinsGC | p.S242A | Missense | 2/4 | - | 1 |
16-29825099-A-T | c.724A>T | p.S242C | Missense | 2/4 | - | 2 |
16-29825099-A-C | c.724A>C | p.S242R | Missense | 2/4 | - | 1 |
16-29825101-C-A | c.726C>A | p.S242R | Missense | 2/4 | - | 1 |
16-29825101-C-G | c.726C>G | p.S242R | Missense | 2/4 | - | 1 |
16-29825105-AG-GC | c.730_731delinsGC | p.S244A | Missense | 2/4 | - | 3 |
16-29825108-C-G | c.733C>G | p.R245G | Missense | 2/4 | - | 1 |
16-29825109-G-A | c.734G>A | p.R245H | Missense | 2/4 | - | 1 |
16-29825111-C-T | c.736C>T | p.H246Y | Missense | 2/4 | - | 1 |
16-29825114-CC-AT | c.739_740delinsAT | p.P247I | Missense | 2/4 | - | 1 |
16-29825114-C-T | c.739C>T | p.P247S | Missense | 2/4 | - | 1 |
16-29825117-AG-GC | c.742_743delinsGC | p.S248A | Missense | 2/4 | - | 2 |
16-29825117-AG-TT | c.742_743delinsTT | p.S248F | Missense | 2/4 | - | 1 |
16-29825118-G-C | c.743G>C | p.S248T | Missense | 2/4 | - | 1 |
16-29825120-T-C | c.745T>C | p.S249P | Missense | 2/4 | - | 1 |
16-29825120-TCC-CAA | c.745_747delinsCAA | p.S249Q | Missense | 2/4 | - | 1 |
16-29825120-T-G | c.745T>G | p.S249A | Missense | 2/4 | - | 5 |
16-29825121-C-G | c.746C>G | p.S249C | Missense | 2/4 | - | 1 |
16-29825122-C-A | c.747C>A | p.S249= | Synonymous | 2/4 | - | 1 |
16-29825122-C-G | c.747C>G | p.S249= | Synonymous | 2/4 | - | 1 |
16-29825122-C-T | c.747C>T | p.S249= | Synonymous | 2/4 | - | 1 |
16-29825126-T-C | c.751T>C | p.L251= | Synonymous | 2/4 | - | 3 |
16-29825128-G-A | c.753G>A | p.L251= | Synonymous | 2/4 | - | 1 |
16-29825136-C-T | c.761C>T | p.P254L | Missense | 2/4 | - | 1 |
16-29825139-G-A | c.764G>A | p.G255E | Missense | 2/4 | - | 1 |
16-29825145-A-G | c.770A>G | p.E257G | Missense | 2/4 | - | 1 |
16-29825147-G-A | c.772G>A | p.G258R | Missense | 2/4 | - | 1 |
16-29825147-G-C | c.772G>C | p.G258R | Missense | 2/4 | - | 1 |
16-29825148-G-A | c.773G>A | p.G258E | Missense | 2/4 | - | 1 |
16-29825145-A-AG | c.776dup | p.E260* | Nonsense | 2/4 | - | 2 |
16-29825153-G-T | c.778G>T | p.E260* | Nonsense | 2/4 | - | 1 |
16-29825159-ACC-GAG | c.784_786delinsGAG | p.T262E | Missense | 2/4 | - | 1 |
16-29825159-ACC-TAA | c.784_786delinsTAA | p.T262* | Nonsense | 2/4 | - | 1 |
16-29825159-AC-GT | c.784_785inv | p.T262V | Missense | 2/4 | - | 1 |
16-29825159-AC-TG | c.784_785delinsTG | p.T262C | Missense | 2/4 | - | 1 |
16-29825162-C-T | c.787C>T | p.Q263* | Nonsense | 2/4 | - | 1 |
16-29825165-AA-GC | c.790_791delinsGC | p.K264A | Missense | 2/4 | - | 1 |
16-29825166-A-G | c.791A>G | p.K264R | Missense | 2/4 | - | 1 |
16-29825168-C-T | c.793C>T | p.P265S | Missense | 2/4 | - | 1 |
16-29825169-C-T | c.794C>T | p.P265L | Missense | 2/4 | - | 1 |
16-29825171-CG-AA | c.796_797delinsAA | p.R266K | Missense | 2/4 | - | 1 |
16-29825171-CG-GA | c.796_797delinsGA | p.R266E | Missense | 2/4 | - | 1 |
16-29825171-C-T | c.796C>T | p.R266W | Missense | 2/4 | - | 5 |
16-29825172-G-A | c.797G>A | p.R266Q | Missense | 2/4 | - | 2 |
16-29825175-A-C | c.800A>C | p.D267A | Missense | 2/4 | - | 1 |
16-29825177-TA-GC | c.802_803delinsGC | p.Y268A | Missense | 2/4 | - | 1 |
16-29825181-T-C | c.806T>C | p.I269T | Missense | 2/4 | - | 1 |
16-29825186-C-T | c.811C>T | p.L271F | Missense | 2/4 | - | 1 |
16-29825190-C-T | c.815C>T | p.A272V | Missense | 2/4 | - | 1 |
16-29825198-TC-GA | c.823_824inv | p.S275D | Missense | 2/4 | - | 1 |
16-29825198-T-G | c.823T>G | p.S275A | Missense | 2/4 | - | 1 |
16-29825199-C-T | c.824C>T | p.S275F | Missense | 2/4 | - | 2 |
16-29825201-T-A | c.826T>A | p.C276S | Missense | 2/4 | - | 1 |
16-29825202-G-C | c.827G>C | p.C276S | Missense | 2/4 | - | 1 |
16-29825202-G-A | c.827G>A | p.C276Y | Missense | 2/4 | - | 1 |
16-29825203-C-T | c.828C>T | p.C276= | Synonymous | 2/4 | - | 1 |
16-29825207-T-A | c.832T>A | p.C278S | Missense | 2/4 | - | 1 |
16-29825208-G-C | c.833G>C | p.C278S | Missense | 2/4 | - | 1 |
16-29825210-C-T | c.835C>T | p.P279S | Missense | 2/4 | - | 1 |
16-29825211-C-T | c.836C>T | p.P279L | Missense | 2/4 | - | 3 |
16-29825216-T-A | c.841T>A | p.W281R | Missense | 2/4 | - | 1 |
16-29825216-T-C | c.841T>C | p.W281R | Missense | 2/4 | - | 4 |
16-29825218-G-T | c.843G>T | p.W281C | Missense | 2/4 | - | 1 |
16-29825222-GTC-TGG | c.847_849delinsTGG | p.V283W | Missense | 2/4 | - | 1 |
16-29825231-G-A | c.856G>A | p.V286M | Missense | 2/4 | - | 1 |
16-29825231-G-C | c.856G>C | p.V286L | Missense | 2/4 | - | 1 |
16-29825231-G-T | c.856G>T | p.V286L | Missense | 2/4 | - | 1 |
16-29825234-G-A | c.859G>A | p.A287T | Missense | 2/4 | - | 4 |
16-29825234-G-C | c.859G>C | p.A287P | Missense | 2/4 | - | 1 |
16-29825243-TA-GG | c.868_869delinsGG | p.Y290G | Missense | 2/4 | - | 1 |
16-29825244-A-G | c.869A>G | p.Y290C | Missense | 2/4 | - | 1 |
16-29825244-A-T | c.869A>T | p.Y290F | Missense | 2/4 | - | 3 |
16-29825247-C-T | c.872C>T | p.A291V | Missense | 2/4 | - | 3 |
16-29825252-A-G | c.877A>G | p.M293V | Missense | 2/4 | - | 1 |
16-29825252-AT-GC | c.877_878delinsGC | p.M293A | Missense | 2/4 | - | 1 |
16-29825255-G-T | c.879+1G>T | - | IntronicSNV | - | 2/3 | 2 |
16-29825258-A-G | c.879+4A>G | - | IntronicSNV | - | 2/3 | 1 |
16-29825259-G-A | c.879+5G>A | - | IntronicSNV | - | 2/3 | 2 |
16-29825654-TC-CT | c.880_881delinsCT | p.S294L | Missense | 3/4 | - | 1 |
16-29825654-T-G | c.880T>G | p.S294A | Missense | 3/4 | - | 3 |
16-29825655-C-T | c.881C>T | p.S294F | Missense | 3/4 | - | 1 |
16-29825657-CG-GC | c.883_884delinsGC | p.R295A | Missense | 3/4 | - | 1 |
16-29825658-G-A | c.884G>A | p.R295Q | Missense | 3/4 | - | 2 |
16-29825660-AA-GC | c.886_887delinsGC | p.N296A | Missense | 3/4 | - | 1 |
16-29825660-A-C | c.886A>C | p.N296H | Missense | 3/4 | - | 1 |
16-29825662-C-T | c.888C>T | p.N296= | Synonymous | 3/4 | - | 2 |
16-29825663-AG-CC | c.889_890delinsCC | p.S297P | Missense | 3/4 | - | 1 |
16-29825663-AGC-TGA | c.889_891delinsTGA | p.S297* | Nonsense | 3/4 | - | 1 |
16-29825663-AG-GA | c.889_890delinsGA | p.S297D | Missense | 3/4 | - | 1 |
16-29825663-AG-GC | c.889_890delinsGC | p.S297A | Missense | 3/4 | - | 3 |
16-29825667-T-A | c.893T>A | p.L298Q | Missense | 3/4 | - | 1 |
16-29825667-T-C | c.893T>C | p.L298P | Missense | 3/4 | - | 1 |
16-29825673-A-AG | c.904dup | p.D302Gfs*39 | Frameshift | 3/4 | - | 2 |
16-29825678-G-A | c.904G>A | p.D302N | Missense | 3/4 | - | 1 |
16-29825681-G-A | c.907G>A | p.V303M | Missense | 3/4 | - | 1 |
16-29825684-G-A | c.910G>A | p.D304N | Missense | 3/4 | - | 1 |
16-29825687-G-A | c.913G>A | p.G305R | Missense | 3/4 | - | 8 |
16-29825687-G-T | c.913G>T | p.G305W | Missense | 3/4 | - | 6 |
16-29825688-G-A | c.914G>A | p.G305E | Missense | 3/4 | - | 1 |
16-29825690-G-A | c.916G>A | p.A306T | Missense | 3/4 | - | 3 |
16-29825690-G-C | c.916G>C | p.A306P | Missense | 3/4 | - | 1 |
16-29825691-C-A | c.917C>A | p.A306D | Missense | 3/4 | - | 1 |
16-29825696-C-G | c.922C>G | p.R308G | Missense | 3/4 | - | 1 |
16-29825696-CG-GC | c.922_923delinsGC | p.R308A | Missense | 3/4 | - | 1 |
16-29825696-CGT-ATG | c.922_924delinsATG | p.R308M | Missense | 3/4 | - | 1 |
16-29825696-C-T | c.922C>T | p.R308C | Missense | 3/4 | - | 5 |
16-29825705-CG-GA | c.931_932delinsGA | p.R311E | Missense | 3/4 | - | 1 |
16-29825705-CG-GC | c.931_932delinsGC | p.R311A | Missense | 3/4 | - | 1 |
16-29825705-C-T | c.931C>T | p.R311W | Missense | 3/4 | - | 1 |
16-29825706-G-A | c.932G>A | p.R311Q | Missense | 3/4 | - | 1 |
16-29825706-G-T | c.932G>T | p.R311L | Missense | 3/4 | - | 1 |
16-29825711-G-T | c.937G>T | p.A313S | Missense | 3/4 | - | 1 |
16-29825712-C-G | c.938C>G | p.A313G | Missense | 3/4 | - | 1 |
16-29825717-CT-GC | c.943_944delinsGC | p.L315A | Missense | 3/4 | - | 1 |
16-29825720-TT-GC | c.946_947delinsGC | p.L316A | Missense | 3/4 | - | 1 |
16-29825723-AG-GA | c.949_950delinsGA | p.S317D | Missense | 3/4 | - | 1 |
16-29825723-AG-GC | c.949_950delinsGC | p.S317A | Missense | 3/4 | - | 1 |
16-29825724-G-A | c.950G>A | p.S317N | Missense | 3/4 | - | 4 |
16-29825726-A-C | c.952A>C | p.I318L | Missense | 3/4 | - | 1 |
16-29825729-G-T | c.955G>T | p.V319L | Missense | 3/4 | - | 1 |
16-29825732-GC-AG | c.958_959delinsAG | p.A320R | Missense | 3/4 | - | 1 |
16-29825733-C-T | c.959C>T | p.A320V | Missense | 3/4 | - | 1 |
16-29825736-TG-T | c.964del | p.V322Wfs*15 | Frameshift | 3/4 | - | 2 |
16-29825741-G-A | c.967G>A | p.G323R | Missense | 3/4 | - | 1 |
16-29825742-G-A | c.968G>A | p.G323E | Missense | 3/4 | - | 1 |
16-29825742-G-C | c.968G>C | p.G323A | Missense | 3/4 | - | 1 |
16-29825744-G-A | c.970G>A | p.G324R | Missense | 3/4 | - | 1 |
16-29825739-TG-T | c.971del | p.G324Efs*13 | Frameshift | 3/4 | - | 2 |
16-29825745-G-A | c.971G>A | p.G324E | Missense | 3/4 | - | 2 |
16-29825745-GA-AC | c.971_972delinsAC | p.G324D | Missense | 3/4 | - | 2 |
16-29825745-G-GA | c.972dup | p.V325Sfs*16 | Frameshift | 3/4 | - | 1 |
16-29825746-GA-G | c.972del | p.V325Sfs*12 | Frameshift | 3/4 | - | 1 |
16-29825751-T-A | c.977T>A | p.L326H | Missense | 3/4 | - | 1 |
16-29825755-C-G | c.981C>G | p.I327M | Missense | 3/4 | - | 4 |
16-29825760-T-C | c.986T>C | p.I329T | Missense | 3/4 | - | 1 |
16-29825762-G-A | c.988G>A | p.A330T | Missense | 3/4 | - | 1 |
16-29825765-T-A | c.991T>A | p.S331T | Missense | 3/4 | - | 1 |
16-29825765-T-G | c.991T>G | p.S331A | Missense | 3/4 | - | 4 |
16-29825768-T-A | c.994T>A | p.C332S | Missense | 3/4 | - | 1 |
16-29825769-G-C | c.995G>C | p.C332S | Missense | 3/4 | - | 1 |
16-29825778-A-G | c.1004A>G | p.N335S | Missense | 3/4 | - | 1 |
16-29825783-GGC-G | c.1011_1012del | p.Y339* | SpliceDonorDeletion | 3/4 | - | 1 |
16-29825785-C-A | c.1011C>A | p.G337= | Synonymous | 3/4 | - | 1 |
16-29825785-C-G | c.1011C>G | p.G337= | Synonymous | 3/4 | - | 1 |
16-29825785-C-T | c.1011C>T | p.G337= | Synonymous | 3/4 | - | 4 |
16-29825888-C-T | c.1013-61C>T | - | IntronicSNV | - | 3/3 | 1 |
16-29825949-TG-AC | c.1013_1014delinsAC | p.V338D | Missense | 4/4 | - | 1 |
16-29825957-T-C | c.1021T>C | p.*341Rext*28 | Missense | 4/4 | - | 1 |
16-29826365-G-A | c.*406G>A | - | 3-UTRSNV | 4/4 | - | 3 |
16-29826365-G-T | c.*406G>T | - | 3-UTRSNV | 4/4 | - | 3 |
16-29826538-T-A | c.*579T>A | - | 3-UTRSNV | 4/4 | - | 3 |
16-29826538-T-C | c.*579T>C | - | 3-UTRSNV | 4/4 | - | 3 |
16-29826538-T-G | c.*579T>G | - | 3-UTRSNV | 4/4 | - | 3 |