Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
2-27255895-G-C | c.12G>C | p.K4N | Missense | 1/17 | - | 1 |
2-27255899-G-A | c.16G>A | p.A6T | Missense | 1/17 | - | 1 |
2-27255905-GT-AA | c.22_23delinsAA | p.V8K | Missense | 1/17 | - | 1 |
2-27255909-G-A | c.26G>A | p.G9E | Missense | 1/17 | - | 1 |
2-27255912-G-C | c.29G>C | p.R10P | Missense | 1/17 | - | 1 |
2-27255913-G-A | c.30G>A | p.R10= | Synonymous | 1/17 | - | 1 |
2-27255917-G-T | c.34G>T | p.E12* | Nonsense | 1/17 | - | 1 |
2-27255923-G-A | c.40G>A | p.V14M | Missense | 1/17 | - | 1 |
2-27255932-G-A | c.49G>A | p.G17S | Missense | 1/17 | - | 1 |
2-27255936-G-A | c.53G>A | p.R18Q | Missense | 1/17 | - | 1 |
2-27255938-C-G | c.55C>G | p.R19G | Missense | 1/17 | - | 1 |
2-27255941-C-T | c.58C>T | p.P20S | Missense | 1/17 | - | 1 |
2-27255934-TCGGCGGCCTGGGGTCGGCGCCGGCGC-T | c.60_85del | p.G21Rfs*32 | Frameshift | 1/17 | - | 1 |
2-27255943-T-C | c.60T>C | p.P20= | Synonymous | 1/17 | - | 1 |
2-27255943-T-G | c.60T>G | p.P20= | Synonymous | 1/17 | - | 1 |
2-27255945-G-A | c.62G>A | p.G21E | Missense | 1/17 | - | 1 |
2-27255948-T-G | c.65T>G | p.V22G | Missense | 1/17 | - | 1 |
2-27255950-G-T | c.67G>T | p.G23C | Missense | 1/17 | - | 1 |
2-27255951-G-C | c.68G>C | p.G23A | Missense | 1/17 | - | 1 |
2-27255954-C-A | c.71C>A | p.A24D | Missense | 1/17 | - | 1 |
2-27255956-G-C | c.73G>C | p.G25R | Missense | 1/17 | - | 1 |
2-27255959-G-C | c.76G>C | p.A26P | Missense | 1/17 | - | 2 |
2-27255959-GC-TG | c.76_77delinsTG | p.A26C | Missense | 1/17 | - | 2 |
2-27255960-C-A | c.77C>A | p.A26D | Missense | 1/17 | - | 1 |
2-27255960-C-T | c.77C>T | p.A26V | Missense | 1/17 | - | 1 |
2-27255962-G-C | c.79G>C | p.G27R | Missense | 1/17 | - | 1 |
2-27255966-G-GGCC | c.83_84insGCC | p.G28_R29insP | InFrameInsertion | 1/17 | - | 1 |
2-27255968-C-A | c.85C>A | p.R29= | Synonymous | 1/17 | - | 1 |
2-27255970-A-C | c.87A>C | p.R29= | Synonymous | 1/17 | - | 1 |
2-27255970-A-G | c.87A>G | p.R29= | Synonymous | 1/17 | - | 1 |
2-27255970-A-T | c.87A>T | p.R29= | Synonymous | 1/17 | - | 1 |
2-27255969-GA-AT | c.86_87delinsAT | p.R29H | Missense | 1/17 | - | 1 |
2-27255972-G-A | c.89G>A | p.G30E | Missense | 1/17 | - | 2 |
2-27255968-CGAG-C | c.90_92del | p.G32del | InFrameDeletion | 1/17 | - | 1 |
2-27255973-A-C | c.90A>C | p.G30= | Synonymous | 1/17 | - | 1 |
2-27255973-A-G | c.90A>G | p.G30= | Synonymous | 1/17 | - | 1 |
2-27255973-A-T | c.90A>T | p.G30= | Synonymous | 1/17 | - | 1 |
2-27255974-G-A | c.91G>A | p.G31S | Missense | 1/17 | - | 1 |
2-27255977-G-C | c.94G>C | p.G32R | Missense | 1/17 | - | 1 |
2-27255980-A-T | c.97A>T | p.R33W | Missense | 1/17 | - | 1 |
2-27255983-A-G | c.100A>G | p.N34D | Missense | 1/17 | - | 3 |
2-27255986-CG-AT | c.103_104delinsAT | p.R35I | Missense | 1/17 | - | 1 |
2-27255987-G-C | c.104G>C | p.R35P | Missense | 1/17 | - | 1 |
2-27255990-G-C | c.107G>C | p.R36T | Missense | 1/17 | - | 1 |
2-27255993-C-A | c.110C>A | p.A37E | Missense | 1/17 | - | 1 |
2-27255996-T-G | c.113T>G | p.L38R | Missense | 1/17 | - | 1 |
2-27255998-G-C | c.115G>C | p.G39R | Missense | 1/17 | - | 1 |
2-27256000-G-A | c.117G>A | p.G39= | Synonymous | 1/17 | - | 1 |
2-27256000-G-C | c.117G>C | p.G39= | Synonymous | 1/17 | - | 1 |
2-27256000-G-T | c.117G>T | p.G39= | Synonymous | 1/17 | - | 1 |
2-27256002-A-C | c.119A>C | p.E40A | Missense | 1/17 | - | 1 |
2-27256004-G-T | c.121G>T | p.A41S | Missense | 1/17 | - | 1 |
2-27256009-C-T | c.126C>T | p.N42= | Synonymous | 1/17 | - | 1 |
2-27256013-G-A | c.130G>A | p.V44M | Missense | 1/17 | - | 1 |
2-27256019-A-G | c.136A>G | p.K46E | Missense | 1/17 | - | 1 |
2-27256032-C-T | c.149C>T | p.T50I | Missense | 1/17 | - | 1 |
2-27256034-C-A | c.151C>A | p.P51T | Missense | 1/17 | - | 1 |
2-27256935-C-G | c.152C>G | p.P51R | Missense | 2/17 | - | 1 |
2-27256937-G-C | c.154G>C | p.A52P | Missense | 2/17 | - | 1 |
2-27256937-GC-CA | c.154_155delinsCA | p.A52Q | Missense | 2/17 | - | 1 |
2-27256940-A-G | c.157A>G | p.I53V | Missense | 2/17 | - | 1 |
2-27256942-C-T | c.159C>T | p.I53= | Synonymous | 2/17 | - | 1 |
2-27256943-C-G | c.160C>G | p.Q54E | Missense | 2/17 | - | 1 |
2-27256953-G-A | c.170G>A | p.S57N | Missense | 2/17 | - | 1 |
2-27256957-C-A | c.174C>A | p.T58= | Synonymous | 2/17 | - | 1 |
2-27256957-C-G | c.174C>G | p.T58= | Synonymous | 2/17 | - | 1 |
2-27256957-C-T | c.174C>T | p.T58= | Synonymous | 2/17 | - | 1 |
2-27256961-T-A | c.178T>A | p.Y60N | Missense | 2/17 | - | 1 |
2-27256962-A-G | c.179A>G | p.Y60C | Missense | 2/17 | - | 1 |
2-27256968-G-A | c.185G>A | p.R62Q | Missense | 2/17 | - | 2 |
2-27256972-C-A | c.189C>A | p.G63= | Synonymous | 2/17 | - | 1 |
2-27256972-C-G | c.189C>G | p.G63= | Synonymous | 2/17 | - | 1 |
2-27256972-C-T | c.189C>T | p.G63= | Synonymous | 2/17 | - | 4 |
2-27256976-G-C | c.193G>C | p.E65Q | Missense | 2/17 | - | 1 |
2-27256978-G-A | c.195G>A | p.E65= | Synonymous | 2/17 | - | 1 |
2-27256978-G-T | c.195G>T | p.E65D | Missense | 2/17 | - | 1 |
2-27256981-T-A | c.198T>A | p.N66K | Missense | 2/17 | - | 1 |
2-27256981-T-G | c.198T>G | p.N66K | Missense | 2/17 | - | 1 |
2-27256982-A-G | c.199A>G | p.I67V | Missense | 2/17 | - | 2 |
2-27256985-A-C | c.202A>C | p.M68L | Missense | 2/17 | - | 1 |
2-27256985-A-T | c.202A>T | p.M68L | Missense | 2/17 | - | 1 |
2-27256987-G-A | c.204G>A | p.M68I | Missense | 2/17 | - | 1 |
2-27256989-A-G | c.206A>G | p.K69R | Missense | 2/17 | - | 1 |
2-27256995-A-G | c.212A>G | p.Q71R | Missense | 2/17 | - | 1 |
2-27257003-G-A | c.220G>A | p.E74K | Missense | 2/17 | - | 1 |
2-27257005-G-A | c.222G>A | p.E74= | Synonymous | 2/17 | - | 3 |
2-27257014-A-G | c.231A>G | p.P77= | Synonymous | 2/17 | - | 1 |
2-27257015-C-T | c.232C>T | p.P78S | Missense | 2/17 | - | 3 |
2-27257018-C-T | c.235C>T | p.P79S | Missense | 2/17 | - | 1 |
2-27257014-AC-A | c.236del | p.P79Lfs*37 | Frameshift | 2/17 | - | 1 |
2-27257022-C-T | c.239C>T | p.A80V | Missense | 2/17 | - | 1 |
2-27257040-C-T | c.257C>T | p.P86L | Missense | 2/17 | - | 1 |
2-27257047-C-G | c.264C>G | p.N88K | Missense | 2/17 | - | 1 |
2-27257050-G-A | c.267G>A | p.K89= | Synonymous | 2/17 | - | 1 |
2-27257053-G-A | c.270G>A | p.K90= | Synonymous | 2/17 | - | 1 |
2-27257061-A-G | c.278A>G | p.K93R | Missense | 2/17 | - | 2 |
2-27257062-G-C | c.279G>C | p.K93N | Missense | 2/17 | - | 1 |
2-27257068-G-A | c.285G>A | p.V95= | Synonymous | 2/17 | - | 2 |
2-27257068-G-C | c.285G>C | p.V95= | Synonymous | 2/17 | - | 1 |
2-27257068-G-T | c.285G>T | p.V95= | Synonymous | 2/17 | - | 1 |
2-27257070-CA-AC | c.287_288delinsAC | p.A96D | Missense | 2/17 | - | 1 |
2-27257070-C-G | c.287C>G | p.A96G | Missense | 2/17 | - | 1 |
2-27257073-C-T | c.290C>T | p.T97I | Missense | 2/17 | - | 1 |
2-27257074-T-A | c.291T>A | p.T97= | Synonymous | 2/17 | - | 1 |
2-27257074-T-C | c.291T>C | p.T97= | Synonymous | 2/17 | - | 1 |
2-27257074-T-G | c.291T>G | p.T97= | Synonymous | 2/17 | - | 1 |
2-27257075-C-G | c.292C>G | p.P98A | Missense | 2/17 | - | 1 |
2-27257075-C-T | c.292C>T | p.P98S | Missense | 2/17 | - | 2 |
2-27257076-C-T | c.293C>T | p.P98L | Missense | 2/17 | - | 2 |
2-27257079-C-T | c.296C>T | p.P99L | Missense | 2/17 | - | 2 |
2-27257081-A-G | c.298A>G | p.N100D | Missense | 2/17 | - | 1 |
2-27257083-C-A | c.300C>A | p.N100K | Missense | 2/17 | - | 1 |
2-27257083-C-G | c.300C>G | p.N100K | Missense | 2/17 | - | 1 |
2-27257090-C-G | c.307C>G | p.Q103E | Missense | 2/17 | - | 2 |
2-27257092-G-A | c.309G>A | p.Q103= | Synonymous | 2/17 | - | 1 |
2-27257095-G-A | c.312G>A | p.K104= | Synonymous | 2/17 | - | 1 |
2-27257096-C-T | c.313C>T | p.Q105* | Nonsense | 2/17 | - | 2 |
2-27257097-A-T | c.314A>T | p.Q105L | Missense | 2/17 | - | 1 |
2-27257100-G-C | c.317G>C | p.G106A | Missense | 2/17 | - | 1 |
2-27257103-G-A | c.320G>A | p.R107H | Missense | 2/17 | - | 1 |
2-27257108-C-T | c.325C>T | p.R109C | Missense | 2/17 | - | 3 |
2-27257109-G-A | c.326G>A | p.R109H | Missense | 2/17 | - | 4 |
2-27257109-GC-AA | c.326_327delinsAA | p.R109Q | Missense | 2/17 | - | 1 |
2-27257112-G-A | c.329G>A | p.S110N | Missense | 2/17 | - | 1 |
2-27257114-C-T | c.331C>T | p.L111= | Synonymous | 2/17 | - | 4 |
2-27257116-G-A | c.333G>A | p.L111= | Synonymous | 2/17 | - | 1 |
2-27257116-G-C | c.333G>C | p.L111= | Synonymous | 2/17 | - | 1 |
2-27257116-G-T | c.333G>T | p.L111= | Synonymous | 2/17 | - | 2 |
2-27257117-G-A | c.334G>A | p.E112K | Missense | 2/17 | - | 1 |
2-27257123-G-C | c.340G>C | p.A114P | Missense | 2/17 | - | 1 |
2-27257132-G-C | c.349G>C | p.A117P | Missense | 2/17 | - | 1 |
2-27257133-C-A | c.350C>A | p.A117D | Missense | 2/17 | - | 1 |
2-27258003-C-T | c.352C>T | p.L118= | Synonymous | 3/17 | - | 1 |
2-27258003-CTG-TTT | c.352_354delinsTTT | p.L118F | Missense | 3/17 | - | 1 |
2-27258004-T-G | c.353T>G | p.L118R | Missense | 3/17 | - | 1 |
2-27258013-C-A | c.362C>A | p.A121E | Missense | 3/17 | - | 1 |
2-27258015-G-T | c.364G>T | p.D122Y | Missense | 3/17 | - | 2 |
2-27258019-T-A | c.368T>A | p.L123Q | Missense | 3/17 | - | 5 |
2-27258018-C-T | c.367C>T | p.L123= | Synonymous | 3/17 | - | 1 |
2-27258020-G-A | c.369G>A | p.L123= | Synonymous | 3/17 | - | 1 |
2-27258020-G-C | c.369G>C | p.L123= | Synonymous | 3/17 | - | 1 |
2-27258020-G-T | c.369G>T | p.L123= | Synonymous | 3/17 | - | 1 |
2-27258021-C-A | c.370C>A | p.Q124K | Missense | 3/17 | - | 1 |
2-27258021-C-T | c.370C>T | p.Q124* | Nonsense | 3/17 | - | 2 |
2-27258027-G-A | c.376G>A | p.E126K | Missense | 3/17 | - | 1 |
2-27258027-G-T | c.376G>T | p.E126* | Nonsense | 3/17 | - | 1 |
2-27258030-CTG-TTT | c.379_381delinsTTT | p.L127F | Missense | 3/17 | - | 1 |
2-27258032-G-A | c.381G>A | p.L127= | Synonymous | 3/17 | - | 1 |
2-27258033-G-A | c.382G>A | p.D128N | Missense | 3/17 | - | 2 |
2-27258034-A-T | c.383A>T | p.D128V | Missense | 3/17 | - | 1 |
2-27258037-A-T | c.386A>T | p.K129M | Missense | 3/17 | - | 1 |
2-27258039-AG-TT | c.388_389delinsTT | p.S130F | Missense | 3/17 | - | 1 |
2-27258039-A-C | c.388A>C | p.S130R | Missense | 3/17 | - | 3 |
2-27258041-C-A | c.390C>A | p.S130R | Missense | 3/17 | - | 3 |
2-27258041-C-G | c.390C>G | p.S130R | Missense | 3/17 | - | 4 |
2-27258047-T-C | c.396T>C | p.S132= | Synonymous | 3/17 | - | 1 |
2-27258048-G-A | c.397G>A | p.V133M | Missense | 3/17 | - | 1 |
2-27258053-C-G | c.402C>G | p.F134L | Missense | 3/17 | - | 1 |
2-27258062-C-A | c.411C>A | p.N137K | Missense | 3/17 | - | 3 |
2-27258062-C-G | c.411C>G | p.N137K | Missense | 3/17 | - | 3 |
2-27258064-C-T | c.413C>T | p.P138L | Missense | 3/17 | - | 1 |
2-27258065-A-C | c.414A>C | p.P138= | Synonymous | 3/17 | - | 1 |
2-27258065-A-G | c.414A>G | p.P138= | Synonymous | 3/17 | - | 1 |
2-27258065-A-T | c.414A>T | p.P138= | Synonymous | 3/17 | - | 1 |
2-27258074-G-A | c.423G>A | p.W141* | Nonsense | 3/17 | - | 1 |
2-27258088-C-T | c.437C>T | p.A146V | Missense | 3/17 | - | 1 |
2-27258095-T-C | c.444T>C | p.Y148= | Synonymous | 3/17 | - | 1 |
2-27258096-C-G | c.445C>G | p.L149V | Missense | 3/17 | - | 3 |
2-27258100-A-G | c.449A>G | p.N150S | Missense | 3/17 | - | 1 |
2-27258101-C-A | c.450C>A | p.N150K | Missense | 3/17 | - | 1 |
2-27258105-A-G | c.454A>G | p.K152E | Missense | 3/17 | - | 1 |
2-27258106-A-C | c.455A>C | p.K152T | Missense | 3/17 | - | 1 |
2-27258115-C-G | c.464C>G | p.A155G | Missense | 3/17 | - | 1 |
2-27258120-C-G | c.469C>G | p.L157V | Missense | 3/17 | - | 1 |
2-27258132-A-G | c.481A>G | p.T161A | Missense | 3/17 | - | 1 |
2-27258134-G-A | c.483G>A | p.T161= | Synonymous | 3/17 | - | 1 |
2-27258139-G-A | c.488G>A | p.S163N | Missense | 3/17 | - | 1 |
2-27258140-C-G | c.489C>G | p.S163R | Missense | 3/17 | - | 1 |
2-27258141-C-G | c.490C>G | p.Q164E | Missense | 3/17 | - | 1 |
2-27258150-C-A | c.499C>A | p.H167N | Missense | 3/17 | - | 2 |
2-27258153-G-A | c.502G>A | p.D168N | Missense | 3/17 | - | 1 |
2-27258199-T-G | c.502+46T>G | - | IntronicSNV | - | 3/16 | 1 |
2-27258251-T-G | c.502+98T>G | - | IntronicSNV | - | 3/16 | 4 |
2-27258468-C-T | c.509C>T | p.P170L | Missense | 4/17 | - | 1 |
2-27258471-A-G | c.512A>G | p.Y171C | Missense | 4/17 | - | 1 |
2-27258472-C-G | c.513C>G | p.Y171* | Nonsense | 4/17 | - | 1 |
2-27258473-A-G | c.514A>G | p.S172G | Missense | 4/17 | - | 1 |
2-27258474-G-A | c.515G>A | p.S172N | Missense | 4/17 | - | 1 |
2-27258474-G-T | c.515G>T | p.S172I | Missense | 4/17 | - | 1 |
2-27258476-C-G | c.517C>G | p.L173V | Missense | 4/17 | - | 1 |
2-27258479-G-C | c.520G>C | p.V174L | Missense | 4/17 | - | 2 |
2-27258479-G-T | c.520G>T | p.V174L | UnclassifiedSNV | 4/17 | - | 3 |
2-27258484-C-T | c.525C>T | p.S175= | Synonymous | 4/17 | - | 1 |
2-27258485-C-T | c.526C>T | p.R176W | Missense | 4/17 | - | 1 |
2-27258486-G-A | c.527G>A | p.R176Q | UnclassifiedSNV | 4/17 | - | 2 |
2-27258488-G-A | c.529G>A | p.E177K | Missense | 4/17 | - | 2 |
2-27258488-G-C | c.529G>C | p.E177Q | Missense | 4/17 | - | 2 |
2-27258489-A-T | c.530A>T | p.E177V | Missense | 4/17 | - | 1 |
2-27258491-C-T | c.532C>T | p.L178= | Synonymous | 4/17 | - | 1 |
2-27258493-A-C | c.534A>C | p.L178= | Synonymous | 4/17 | - | 1 |
2-27258493-A-G | c.534A>G | p.L178= | Synonymous | 4/17 | - | 1 |
2-27258493-A-T | c.534A>T | p.L178= | Synonymous | 4/17 | - | 1 |
2-27258494-C-T | c.535C>T | p.R179C | Missense | 4/17 | - | 1 |
2-27258495-G-A | c.536G>A | p.R179H | Missense | 4/17 | - | 1 |
2-27258498-G-A | c.539G>A | p.G180E | Missense | 4/17 | - | 3 |
2-27258505-C-A | c.546C>A | p.I182= | Synonymous | 4/17 | - | 1 |
2-27258505-C-T | c.546C>T | p.I182= | Synonymous | 4/17 | - | 1 |
2-27258507-G-A | c.548G>A | p.R183Q | Missense | 4/17 | - | 4 |
2-27258515-C-G | c.556C>G | p.L186V | Missense | 4/17 | - | 1 |
2-27258515-C-T | c.556C>T | p.L186= | Synonymous | 4/17 | - | 2 |
2-27258517-G-A | c.558G>A | p.L186= | Synonymous | 4/17 | - | 1 |
2-27258517-G-C | c.558G>C | p.L186= | Synonymous | 4/17 | - | 1 |
2-27258517-G-T | c.558G>T | p.L186= | Synonymous | 4/17 | - | 1 |
2-27258519-C-T | c.560C>T | p.A187V | Missense | 4/17 | - | 6 |
2-27258520-G-A | c.561G>A | p.A187= | Synonymous | 4/17 | - | 3 |
2-27258520-G-C | c.561G>C | p.A187= | Synonymous | 4/17 | - | 1 |
2-27258520-G-T | c.561G>T | p.A187= | Synonymous | 4/17 | - | 1 |
2-27258523-G-C | c.564G>C | p.K188N | Missense | 4/17 | - | 1 |
2-27258523-G-T | c.564G>T | p.K188N | Missense | 4/17 | - | 2 |
2-27258526-A-C | c.567A>C | p.A189= | Synonymous | 4/17 | - | 1 |
2-27258526-A-G | c.567A>G | p.A189= | Synonymous | 4/17 | - | 1 |
2-27258526-A-T | c.567A>T | p.A189= | Synonymous | 4/17 | - | 1 |
2-27258527-G-A | c.568G>A | p.A190T | Missense | 4/17 | - | 1 |
2-27258530-GGG-ATC | c.571_573delinsATC | p.G191I | Missense | 4/17 | - | 1 |
2-27258530-G-T | c.571G>T | p.G191W | Missense | 4/17 | - | 1 |
2-27258532-G-A | c.573G>A | p.G191= | Synonymous | 4/17 | - | 1 |
2-27258532-G-C | c.573G>C | p.G191= | Synonymous | 4/17 | - | 1 |
2-27258532-G-T | c.573G>T | p.G191= | Synonymous | 4/17 | - | 1 |
2-27258534-C-G | c.575C>G | p.S192C | Missense | 4/17 | - | 1 |
2-27258534-C-T | c.575C>T | p.S192F | Missense | 4/17 | - | 1 |
2-27258537-T-C | c.578T>C | p.L193P | Missense | 4/17 | - | 1 |
2-27258539-G-A | c.580G>A | p.E194K | Missense | 4/17 | - | 1 |
2-27258545-T-C | c.586T>C | p.F196L | Missense | 4/17 | - | 1 |
2-27258547-T-A | c.588T>A | p.F196L | Missense | 4/17 | - | 1 |
2-27258547-T-G | c.588T>G | p.F196L | Missense | 4/17 | - | 1 |
2-27258548-T-G | c.589T>G | p.F197V | Missense | 4/17 | - | 1 |
2-27258552-A-AC | c.595dup | p.H199Pfs*12 | Frameshift | 4/17 | - | 2 |
2-27258560-C-A | c.601C>A | p.L201M | Missense | 4/17 | - | 3 |
2-27258562-G-A | c.603G>A | p.L201= | Synonymous | 4/17 | - | 1 |
2-27258563-T-G | c.604T>G | p.F202V | Missense | 4/17 | - | 1 |
2-27258580-G-T | c.621G>T | p.E207D | Missense | 4/17 | - | 1 |
2-27258591-CA-TG | c.632_633inv | p.T211M | Missense | 4/17 | - | 1 |
2-27258597-G-T | c.637+1G>T | - | IntronicSNV | - | 4/16 | 1 |
2-27258615-G-C | c.637+19G>C | - | IntronicSNV | - | 4/16 | 1 |
2-27258761-C-G | c.638-77C>G | - | IntronicSNV | - | 4/16 | 6 |
2-27258840-G-A | c.640G>A | p.E214K | Missense | 5/17 | - | 1 |
2-27258844-CA-TT | c.644_645delinsTT | p.S215F | Missense | 5/17 | - | 1 |
2-27258851-T-A | c.651T>A | p.H217Q | Missense | 5/17 | - | 1 |
2-27258851-T-G | c.651T>G | p.H217Q | Missense | 5/17 | - | 1 |
2-27258852-G-A | c.652G>A | p.G218S | Missense | 5/17 | - | 3 |
2-27258855-T-C | c.655T>C | p.Y219H | Missense | 5/17 | - | 2 |
2-27258857-C-T | c.657C>T | p.Y219= | Synonymous | 5/17 | - | 1 |
2-27258858-C-T | c.658C>T | p.R220C | Missense | 5/17 | - | 2 |
2-27258859-G-A | c.659G>A | p.R220H | Missense | 5/17 | - | 3 |
2-27258860-C-G | c.660C>G | p.R220= | Synonymous | 5/17 | - | 1 |
2-27258861-A-G | c.661A>G | p.I221V | Missense | 5/17 | - | 4 |
2-27258862-T-A | c.662T>A | p.I221N | Missense | 5/17 | - | 1 |
2-27258869-C-A | c.669C>A | p.I223= | Synonymous | 5/17 | - | 1 |
2-27258869-C-T | c.669C>T | p.I223= | Synonymous | 5/17 | - | 2 |
2-27258870-C-T | c.670C>T | p.Q224* | Nonsense | 5/17 | - | 4 |
2-27258871-A-G | c.671A>G | p.Q224R | Missense | 5/17 | - | 1 |
2-27258872-G-A | c.672G>A | p.Q224= | Synonymous | 5/17 | - | 1 |
2-27258874-C-T | c.674C>T | p.A225V | Missense | 5/17 | - | 1 |
2-27258875-C-T | c.675C>T | p.A225= | Synonymous | 5/17 | - | 1 |
2-27258879-C-T | c.679C>T | p.L227= | Synonymous | 5/17 | - | 3 |
2-27258899-T-G | c.699T>G | p.I233M | Missense | 5/17 | - | 1 |
2-27258901-C-A | c.701C>A | p.A234D | Missense | 5/17 | - | 1 |
2-27258901-C-T | c.701C>T | p.A234V | Missense | 5/17 | - | 1 |
2-27258902-C-A | c.702C>A | p.A234= | Synonymous | 5/17 | - | 1 |
2-27258902-C-G | c.702C>G | p.A234= | Synonymous | 5/17 | - | 2 |
2-27258902-C-T | c.702C>T | p.A234= | Synonymous | 5/17 | - | 1 |
2-27258903-A-G | c.703A>G | p.T235A | Missense | 5/17 | - | 2 |
2-27258904-CG-TC | c.704_705delinsTC | p.T235I | Missense | 5/17 | - | 1 |
2-27258906-G-A | c.706G>A | p.A236T | Missense | 5/17 | - | 1 |
2-27258907-C-T | c.707C>T | p.A236V | Missense | 5/17 | - | 1 |
2-27258913-T-C | c.713T>C | p.L238P | Missense | 5/17 | - | 1 |
2-27258917-C-T | c.717C>T | p.G239= | Synonymous | 5/17 | - | 1 |
2-27258920-G-C | c.720G>C | p.K240N | Missense | 5/17 | - | 1 |
2-27259358-C-G | c.724C>G | p.L242V | Missense | 6/17 | - | 3 |
2-27259364-C-T | c.730C>T | p.L244= | Synonymous | 6/17 | - | 1 |
2-27259370-AG-CA | c.736_737delinsCA | p.R246Q | Missense | 6/17 | - | 1 |
2-27259370-A-T | c.736A>T | p.R246W | Missense | 6/17 | - | 1 |
2-27259373-T-G | c.739T>G | p.S247A | Missense | 6/17 | - | 7 |
2-27259378-C-T | c.744C>T | p.H248= | Synonymous | 6/17 | - | 1 |
2-27259386-G-A | c.752G>A | p.R251Q | Missense | 6/17 | - | 4 |
2-27259392-C-T | c.758C>T | p.A253V | Missense | 6/17 | - | 1 |
2-27259396-AG-A | c.762del | p.K254Nfs*21 | Frameshift | 6/17 | - | 1 |
2-27259396-G-A | c.762G>A | p.K254= | Synonymous | 6/17 | - | 1 |
2-27259396-G-T | c.762G>T | p.K254N | Missense | 6/17 | - | 1 |
2-27259398-G-A | c.764G>A | p.C255Y | Missense | 6/17 | - | 1 |
2-27259401-T-C | c.767T>C | p.L256P | Missense | 6/17 | - | 2 |
2-27259407-T-A | c.773T>A | p.I258N | Missense | 6/17 | - | 1 |
2-27259411-G-A | c.777G>A | p.M259I | Missense | 6/17 | - | 1 |
2-27259412-T-A | c.778T>A | p.W260R | Missense | 6/17 | - | 1 |
2-27259412-T-C | c.778T>C | p.W260R | Missense | 6/17 | - | 2 |
2-27259415-G-A | c.781G>A | p.A261T | Missense | 6/17 | - | 1 |
2-27259416-C-A | c.782C>A | p.A261D | Missense | 6/17 | - | 1 |
2-27259418-C-T | c.784C>T | p.L262= | Synonymous | 6/17 | - | 1 |
2-27259421-G-A | c.787G>A | p.G263S | Missense | 6/17 | - | 5 |
2-27259422-G-A | c.788G>A | p.G263D | Missense | 6/17 | - | 3 |
2-27259424-C-G | c.790C>G | p.Q264E | Missense | 6/17 | - | 1 |
2-27259430-G-C | c.796G>C | p.G266R | Missense | 6/17 | - | 1 |
2-27259431-G-A | c.797G>A | p.G266D | Missense | 6/17 | - | 1 |
2-27259433-T-C | c.799T>C | p.F267L | Missense | 6/17 | - | 1 |
2-27259433-T-G | c.799T>G | p.F267V | Missense | 6/17 | - | 1 |
2-27259435-T-A | c.801T>A | p.F267L | Missense | 6/17 | - | 1 |
2-27259435-T-G | c.801T>G | p.F267L | Missense | 6/17 | - | 1 |
2-27259435-T-C | c.801T>C | p.F267= | Synonymous | 6/17 | - | 1 |
2-27259436-G-A | c.802G>A | p.A268T | Missense | 6/17 | - | 1 |
2-27259442-C-T | c.808C>T | p.L270F | Missense | 6/17 | - | 1 |
2-27259444-TC-T | c.810del | p.T271Pfs*4 | Frameshift | 6/17 | - | 1 |
2-27259446-C-T | c.812C>T | p.T271I | Missense | 6/17 | - | 1 |
2-27259447-C-A | c.813C>A | p.T271= | Synonymous | 6/17 | - | 1 |
2-27259447-C-G | c.813C>G | p.T271= | Synonymous | 6/17 | - | 1 |
2-27259447-C-T | c.813C>T | p.T271= | Synonymous | 6/17 | - | 1 |
2-27259453-A-G | c.819A>G | p.G273= | Synonymous | 6/17 | - | 1 |
2-27259454-C-T | c.820C>T | p.L274= | Synonymous | 6/17 | - | 1 |
2-27259456-G-A | c.822G>A | p.L274= | Synonymous | 6/17 | - | 3 |
2-27259456-G-C | c.822G>C | p.L274= | Synonymous | 6/17 | - | 1 |
2-27259456-G-T | c.822G>T | p.L274= | Synonymous | 6/17 | - | 1 |
2-27259458-A-G | c.824A>G | p.K275R | Missense | 6/17 | - | 1 |
2-27259459-A-G | c.825A>G | p.K275= | Synonymous | 6/17 | - | 1 |
2-27259573-T-C | c.827T>C | p.V276A | Missense | 7/17 | - | 1 |
2-27259583-G-C | c.837G>C | p.G279= | Synonymous | 7/17 | - | 1 |
2-27259586-C-A | c.840C>A | p.I280= | Synonymous | 7/17 | - | 1 |
2-27259593-C-A | c.847C>A | p.P283T | Missense | 7/17 | - | 1 |
2-27259599-CTG-TTT | c.853_855delinsTTT | p.L285F | Missense | 7/17 | - | 1 |
2-27259602-G-C | c.856G>C | p.G286R | Missense | 7/17 | - | 1 |
2-27259614-C-A | c.868C>A | p.L290M | Missense | 7/17 | - | 1 |
2-27259618-C-T | c.872C>T | p.S291F | Missense | 7/17 | - | 1 |
2-27259620-C-T | c.874C>T | p.P292S | Missense | 7/17 | - | 4 |
2-27259621-C-A | c.875C>A | p.P292H | Missense | 7/17 | - | 1 |
2-27259621-C-T | c.875C>T | p.P292L | Missense | 7/17 | - | 1 |
2-27259628-C-T | c.882C>T | p.A294= | Synonymous | 7/17 | - | 1 |
2-27259637-C-G | c.891C>G | p.Y297* | Nonsense | 7/17 | - | 1 |
2-27259640-G-A | c.894G>A | p.L298= | Synonymous | 7/17 | - | 1 |
2-27259794-G-A | c.908+140G>A | - | IntronicSNV | - | 7/16 | 3 |
2-27259653-C-T | c.907C>T | p.L303= | Synonymous | 7/17 | - | 1 |
2-27259945-G-A | c.909G>A | p.L303= | Synonymous | 8/17 | - | 1 |
2-27259945-G-C | c.909G>C | p.L303= | Synonymous | 8/17 | - | 1 |
2-27259945-G-T | c.909G>T | p.L303= | Synonymous | 8/17 | - | 1 |
2-27259953-C-T | c.917C>T | p.P306L | Missense | 8/17 | - | 1 |
2-27259967-GG-AC | c.931_932delinsAC | p.G311T | Missense | 8/17 | - | 1 |
2-27259972-C-T | c.936C>T | p.F312= | Synonymous | 8/17 | - | 5 |
2-27259975-C-A | c.939C>A | p.G313= | Synonymous | 8/17 | - | 1 |
2-27259978-G-A | c.942G>A | p.M314I | Missense | 8/17 | - | 2 |
2-27259978-G-C | c.942G>C | p.M314I | Missense | 8/17 | - | 2 |
2-27259978-G-T | c.942G>T | p.M314I | Missense | 8/17 | - | 3 |
2-27259980-T-C | c.944T>C | p.I315T | Missense | 8/17 | - | 1 |
2-27259985-C-T | c.949C>T | p.P317S | Missense | 8/17 | - | 1 |
2-27259993-C-T | c.957C>T | p.D319= | Synonymous | 8/17 | - | 1 |
2-27259996-C-T | c.960C>T | p.F320= | Synonymous | 8/17 | - | 2 |
2-27259997-T-G | c.961T>G | p.F321V | Missense | 8/17 | - | 3 |
2-27260001-C-G | c.965C>G | p.P322R | Missense | 8/17 | - | 1 |
2-27260024-C-T | c.988C>T | p.P330S | Missense | 8/17 | - | 1 |
2-27260027-A-G | c.991A>G | p.N331D | Missense | 8/17 | - | 1 |
2-27260028-A-G | c.992A>G | p.N331S | Missense | 8/17 | - | 1 |
2-27260029-C-T | c.993C>T | p.N331= | Synonymous | 8/17 | - | 1 |
2-27260035-C-A | c.999C>A | p.S333= | Synonymous | 8/17 | - | 1 |
2-27260035-C-G | c.999C>G | p.S333= | Synonymous | 8/17 | - | 1 |
2-27260035-C-T | c.999C>T | p.S333= | Synonymous | 8/17 | - | 1 |
2-27260166-A-T | c.1010+120A>T | - | IntronicSNV | - | 8/16 | 1 |
2-27260437-A-G | c.1019A>G | p.E340G | Missense | 9/17 | - | 1 |
2-27260445-T-G | c.1027T>G | p.C343G | Missense | 9/17 | - | 1 |
2-27260448-C-G | c.1030C>G | p.Q344E | Missense | 9/17 | - | 3 |
2-27260450-G-A | c.1032G>A | p.Q344= | Synonymous | 9/17 | - | 3 |
2-27260458-C-T | c.1040C>T | p.P347L | Missense | 9/17 | - | 1 |
2-27260455-AC-A | c.1042del | p.R348Dfs*2 | Frameshift | 9/17 | - | 1 |
2-27260460-C-G | c.1042C>G | p.R348G | Missense | 9/17 | - | 1 |
2-27260461-G-A | c.1043G>A | p.R348Q | Missense | 9/17 | - | 7 |
2-27260469-G-A | c.1051G>A | p.V351M | Missense | 9/17 | - | 25 |
2-27260471-G-A | c.1053G>A | p.V351= | Synonymous | 9/17 | - | 2 |
2-27260471-G-C | c.1053G>C | p.V351= | Synonymous | 9/17 | - | 2 |
2-27260471-G-T | c.1053G>T | p.V351= | Synonymous | 9/17 | - | 2 |
2-27260473-T-G | c.1055T>G | p.L352R | Missense | 9/17 | - | 1 |
2-27260474-G-T | c.1056G>T | p.L352= | Synonymous | 9/17 | - | 2 |
2-27260482-G-C | c.1064G>C | p.G355A | Missense | 9/17 | - | 6 |
2-27260491-C-T | c.1073C>T | p.P358L | Missense | 9/17 | - | 3 |
2-27260492-G-A | c.1074G>A | p.P358= | Synonymous | 9/17 | - | 1 |
2-27260495-T-A | c.1077T>A | p.D359E | Missense | 9/17 | - | 1 |
2-27260495-T-G | c.1077T>G | p.D359E | Missense | 9/17 | - | 1 |
2-27260497-C-T | c.1079C>T | p.S360F | Missense | 9/17 | - | 1 |
2-27260499-A-C | c.1081A>C | p.T361P | Missense | 9/17 | - | 1 |
2-27260509-C-T | c.1091C>T | p.T364I | Missense | 9/17 | - | 1 |
2-27260516-C-A | c.1098C>A | p.F366L | Missense | 9/17 | - | 1 |
2-27260516-C-T | c.1098C>T | p.F366= | Synonymous | 9/17 | - | 1 |
2-27260517-C-T | c.1099C>T | p.P367S | Missense | 9/17 | - | 1 |
2-27260520-TC-CT | c.1102_1103delinsCT | p.S368L | Missense | 9/17 | - | 1 |
2-27260521-C-A | c.1103C>A | p.S368Y | Missense | 9/17 | - | 2 |
2-27260521-C-G | c.1103C>G | p.S368C | Missense | 9/17 | - | 1 |
2-27260521-C-T | c.1103C>T | p.S368F | Missense | 9/17 | - | 3 |
2-27260525-C-T | c.1107C>T | p.F369= | Synonymous | 9/17 | - | 1 |
2-27260526-C-T | c.1108C>T | p.L370= | Synonymous | 9/17 | - | 1 |
2-27260530-C-A | c.1112C>A | p.S371Y | Missense | 9/17 | - | 1 |
2-27260530-C-G | c.1112C>G | p.S371C | Missense | 9/17 | - | 1 |
2-27260536-C-A | c.1118C>A | p.A373D | Missense | 9/17 | - | 3 |
2-27260536-C-G | c.1118C>G | p.A373G | Missense | 9/17 | - | 2 |
2-27260540-C-T | c.1122C>T | p.T374= | Synonymous | 9/17 | - | 1 |
2-27260541-C-T | c.1123C>T | p.P375S | Missense | 9/17 | - | 1 |
2-27260542-C-A | c.1124C>A | p.P375H | Missense | 9/17 | - | 1 |
2-27260546-C-T | c.1128C>T | p.S376= | Synonymous | 9/17 | - | 4 |
2-27260547-T-C | c.1129T>C | p.C377R | Missense | 9/17 | - | 2 |
2-27260547-TG-AC | c.1129_1130delinsAC | p.C377T | Missense | 9/17 | - | 1 |
2-27260547-TG-CT | c.1129_1130delinsCT | p.C377L | Missense | 9/17 | - | 1 |
2-27260548-G-A | c.1130G>A | p.C377Y | Missense | 9/17 | - | 1 |
2-27260550-C-G | c.1132C>G | p.P378A | Missense | 9/17 | - | 1 |
2-27260550-C-T | c.1132C>T | p.P378S | Missense | 9/17 | - | 1 |
2-27260551-C-T | c.1133C>T | p.P378L | Missense | 9/17 | - | 2 |
2-27260556-G-C | c.1138G>C | p.E380Q | Missense | 9/17 | - | 1 |
2-27260561-G-A | c.1143G>A | p.M381I | Missense | 9/17 | - | 1 |
2-27260561-G-C | c.1143G>C | p.M381I | Missense | 9/17 | - | 1 |
2-27260561-G-T | c.1143G>T | p.M381I | Missense | 9/17 | - | 1 |
2-27260563-A-G | c.1145A>G | p.K382R | Missense | 9/17 | - | 1 |
2-27260564-G-A | c.1146G>A | p.K382= | Synonymous | 9/17 | - | 4 |
2-27260564-G-C | c.1146G>C | p.K382N | Missense | 9/17 | - | 1 |
2-27260575-G-A | c.1152+5G>A | - | IntronicSNV | - | 9/16 | 1 |
2-27260617-G-A | c.1152+47G>A | - | IntronicSNV | - | 9/16 | 1 |
2-27260921-G-A | c.1153-93G>A | - | IntronicSNV | - | 9/16 | 1 |
2-27260957-C-T | c.1153-57C>T | - | IntronicSNV | - | 9/16 | 2 |
2-27260960-C-T | c.1153-54C>T | - | IntronicSNV | - | 9/16 | 1 |
2-27261019-G-C | c.1158G>C | p.L386= | Synonymous | 10/17 | - | 1 |
2-27261034-G-C | c.1173G>C | p.E391D | Missense | 10/17 | - | 1 |
2-27261034-G-T | c.1173G>T | p.E391D | Missense | 10/17 | - | 1 |
2-27261038-C-G | c.1177C>G | p.L393V | Missense | 10/17 | - | 1 |
2-27261038-C-T | c.1177C>T | p.L393= | Synonymous | 10/17 | - | 1 |
2-27261040-G-A | c.1179G>A | p.L393= | Synonymous | 10/17 | - | 1 |
2-27261040-G-C | c.1179G>C | p.L393= | Synonymous | 10/17 | - | 1 |
2-27261040-G-T | c.1179G>T | p.L393= | Synonymous | 10/17 | - | 1 |
2-27261042-C-T | c.1181C>T | p.T394M | Missense | 10/17 | - | 1 |
2-27261045-T-C | c.1184T>C | p.V395A | Missense | 10/17 | - | 1 |
2-27261052-C-A | c.1191C>A | p.P397= | Synonymous | 10/17 | - | 1 |
2-27261052-C-G | c.1191C>G | p.P397= | Synonymous | 10/17 | - | 1 |
2-27261052-C-T | c.1191C>T | p.P397= | Synonymous | 10/17 | - | 1 |
2-27261055-C-A | c.1194C>A | p.L398= | Synonymous | 10/17 | - | 1 |
2-27261055-C-G | c.1194C>G | p.L398= | Synonymous | 10/17 | - | 1 |
2-27261055-C-T | c.1194C>T | p.L398= | Synonymous | 10/17 | - | 1 |
2-27261065-G-A | c.1204G>A | p.V402I | Missense | 10/17 | - | 1 |
2-27261065-G-C | c.1204G>C | p.V402L | Missense | 10/17 | - | 1 |
2-27261087-A-G | c.1226A>G | p.K409R | Missense | 10/17 | - | 1 |
2-27261090-A-T | c.1229A>T | p.H410L | Missense | 10/17 | - | 1 |
2-27261091-C-T | c.1230C>T | p.H410= | Synonymous | 10/17 | - | 1 |
2-27261094-G-A | c.1233G>A | p.L411= | Synonymous | 10/17 | - | 1 |
2-27261329-A-G | c.1245-23A>G | - | IntronicSNV | - | 10/16 | 8 |
2-27261329-A-T | c.1245-23A>T | - | IntronicSNV | - | 10/16 | 8 |
2-27261356-CTG-TTT | c.1249_1251delinsTTT | p.L417F | Missense | 11/17 | - | 1 |
2-27261362-G-C | c.1255G>C | p.E419Q | Missense | 11/17 | - | 2 |
2-27261364-G-C | c.1257G>C | p.E419D | Missense | 11/17 | - | 1 |
2-27261364-G-T | c.1257G>T | p.E419D | Missense | 11/17 | - | 1 |
2-27261371-C-T | c.1264C>T | p.L422F | Missense | 11/17 | - | 1 |
2-27261375-G-C | c.1268G>C | p.S423T | Missense | 11/17 | - | 1 |
2-27261383-G-A | c.1276G>A | p.E426K | Missense | 11/17 | - | 2 |
2-27261383-G-C | c.1276G>C | p.E426Q | Missense | 11/17 | - | 4 |
2-27261378-C-CCTGGGACCTTCTTCTTGAGCATCTTCTTAGCAG | c.1277_1278insCCTTCTTCTTGAGCATCTTCTTAGCAGCTGGGA | p.W425_E426insDLLLEHLLSSW | InFrameInsertion | 11/17 | - | 1 |
2-27261392-C-T | c.1285C>T | p.P429S | Missense | 11/17 | - | 1 |
2-27261394-CAAG-C | c.1291_1293del | p.K431del | SpliceDonorDeletion | 11/17 | - | 1 |
2-27261399-A-C | c.1292A>C | p.K431T | Missense | 11/17 | - | 2 |
2-27261564-C-T | c.1294-6C>T | - | IntronicSNV | - | 11/16 | 1 |
2-27261570-G-C | c.1294G>C | p.V432L | Missense | 12/17 | - | 4 |
2-27261570-G-T | c.1294G>T | p.V432L | Missense | 12/17 | - | 4 |
2-27261574-A-G | c.1298A>G | p.Q433R | Missense | 12/17 | - | 2 |
2-27261588-G-C | c.1312G>C | p.E438Q | Missense | 12/17 | - | 1 |
2-27261594-A-T | c.1318A>T | p.I440F | Missense | 12/17 | - | 1 |
2-27261601-C-T | c.1325C>T | p.S442F | Missense | 12/17 | - | 2 |
2-27261602-C-T | c.1326C>T | p.S442= | Synonymous | 12/17 | - | 2 |
2-27261605-C-A | c.1329C>A | p.L443= | Synonymous | 12/17 | - | 1 |
2-27261605-C-G | c.1329C>G | p.L443= | Synonymous | 12/17 | - | 1 |
2-27261605-C-T | c.1329C>T | p.L443= | Synonymous | 12/17 | - | 2 |
2-27261609-C-T | c.1333C>T | p.L445F | Missense | 12/17 | - | 1 |
2-27261617-C-T | c.1341C>T | p.N447= | Synonymous | 12/17 | - | 1 |
2-27261627-C-T | c.1351C>T | p.L451= | Synonymous | 12/17 | - | 1 |
2-27261629-G-A | c.1353G>A | p.L451= | Synonymous | 12/17 | - | 1 |
2-27261629-G-C | c.1353G>C | p.L451= | Synonymous | 12/17 | - | 1 |
2-27261629-G-T | c.1353G>T | p.L451= | Synonymous | 12/17 | - | 2 |
2-27261635-G-C | c.1359G>C | p.K453N | Missense | 12/17 | - | 1 |
2-27261635-G-T | c.1359G>T | p.K453N | Missense | 12/17 | - | 1 |
2-27261641-C-T | c.1365C>T | p.S455= | Synonymous | 12/17 | - | 1 |
2-27261644-T-C | c.1368T>C | p.S456= | Synonymous | 12/17 | - | 1 |
2-27261651-C-T | c.1375C>T | p.Q459* | Nonsense | 12/17 | - | 1 |
2-27261657-G-A | c.1381G>A | p.V461I | Missense | 12/17 | - | 1 |
2-27261663-A-C | c.1387A>C | p.T463P | Missense | 12/17 | - | 3 |
2-27261663-A-G | c.1387A>G | p.T463A | Missense | 12/17 | - | 1 |
2-27261667-G-T | c.1391G>T | p.C464F | Missense | 12/17 | - | 1 |
2-27261669-G-T | c.1393G>T | p.D465Y | Missense | 12/17 | - | 1 |
2-27261672-A-C | c.1396A>C | p.M466L | Missense | 12/17 | - | 1 |
2-27261672-A-T | c.1396A>T | p.M466L | Missense | 12/17 | - | 1 |
2-27261675-G-A | c.1399G>A | p.A467T | Missense | 12/17 | - | 1 |
2-27261676-C-T | c.1400C>T | p.A467V | Missense | 12/17 | - | 2 |
2-27261679-G-C | c.1403G>C | p.C468S | Missense | 12/17 | - | 1 |
2-27261682-A-T | c.1406A>T | p.K469M | Missense | 12/17 | - | 1 |
2-27261933-C-T | c.1426C>T | p.Q476* | Nonsense | 13/17 | - | 3 |
2-27261941-T-A | c.1434T>A | p.P478= | Synonymous | 13/17 | - | 1 |
2-27261941-T-C | c.1434T>C | p.P478= | Synonymous | 13/17 | - | 1 |
2-27261941-T-G | c.1434T>G | p.P478= | Synonymous | 13/17 | - | 1 |
2-27261943-G-A | c.1436G>A | p.R479Q | Missense | 13/17 | - | 1 |
2-27261945-C-A | c.1438C>A | p.L480M | Missense | 13/17 | - | 1 |
2-27261955-C-T | c.1448C>T | p.T483M | Missense | 13/17 | - | 1 |
2-27261957-C-A | c.1450C>A | p.R484= | Synonymous | 13/17 | - | 1 |
2-27261957-C-T | c.1450C>T | p.R484W | Missense | 13/17 | - | 1 |
2-27261959-G-A | c.1452G>A | p.R484= | Synonymous | 13/17 | - | 1 |
2-27261959-G-C | c.1452G>C | p.R484= | Synonymous | 13/17 | - | 1 |
2-27261959-G-T | c.1452G>T | p.R484= | Synonymous | 13/17 | - | 1 |
2-27261958-G-A | c.1451G>A | p.R484Q | Missense | 13/17 | - | 1 |
2-27261958-GG-AT | c.1451_1452delinsAT | p.R484H | Missense | 13/17 | - | 1 |
2-27261965-C-A | c.1458C>A | p.L486= | Synonymous | 13/17 | - | 1 |
2-27261965-C-G | c.1458C>G | p.L486= | Synonymous | 13/17 | - | 1 |
2-27261965-C-T | c.1458C>T | p.L486= | Synonymous | 13/17 | - | 1 |
2-27261968-G-T | c.1461G>T | p.L487= | Synonymous | 13/17 | - | 1 |
2-27261969-T-C | c.1462T>C | p.L488= | Synonymous | 13/17 | - | 1 |
2-27261971-G-A | c.1464G>A | p.L488= | Synonymous | 13/17 | - | 1 |
2-27261972-C-T | c.1465C>T | p.L489= | Synonymous | 13/17 | - | 1 |
2-27261978-G-A | c.1471G>A | p.V491I | Missense | 13/17 | - | 1 |
2-27261980-C-T | c.1473C>T | p.V491= | Synonymous | 13/17 | - | 1 |
2-27261983-C-T | c.1476C>T | p.F492= | Synonymous | 13/17 | - | 1 |
2-27261985-C-T | c.1478C>T | p.A493V | Missense | 13/17 | - | 2 |
2-27261987-G-T | c.1480G>T | p.V494L | Missense | 13/17 | - | 1 |
2-27262011-C-T | c.1504C>T | p.R502W | Missense | 13/17 | - | 1 |
2-27262012-G-A | c.1505G>A | p.R502Q | Missense | 13/17 | - | 4 |
2-27262013-G-C | c.1506G>C | p.R502= | Synonymous | 13/17 | - | 1 |
2-27262015-C-T | c.1508C>T | p.S503L | Missense | 13/17 | - | 1 |
2-27262024-C-T | c.1517C>T | p.S506F | Missense | 13/17 | - | 2 |
2-27262031-G-A | c.1524G>A | p.Q508= | Synonymous | 13/17 | - | 1 |
2-27262036-A-G | c.1525+4A>G | - | IntronicSNV | - | 13/16 | 1 |
2-27262037-G-A | c.1525+5G>A | - | IntronicSNV | - | 13/16 | 1 |
2-27262610-C-A | c.1527C>A | p.A509= | Synonymous | 14/17 | - | 1 |
2-27262610-C-G | c.1527C>G | p.A509= | Synonymous | 14/17 | - | 1 |
2-27262610-C-T | c.1527C>T | p.A509= | Synonymous | 14/17 | - | 1 |
2-27262617-A-T | c.1534A>T | p.T512S | Missense | 14/17 | - | 1 |
2-27262620-G-C | c.1537G>C | p.G513R | Missense | 14/17 | - | 1 |
2-27262621-G-C | c.1538G>C | p.G513A | Missense | 14/17 | - | 1 |
2-27262622-C-A | c.1539C>A | p.G513= | Synonymous | 14/17 | - | 1 |
2-27262622-C-G | c.1539C>G | p.G513= | Synonymous | 14/17 | - | 1 |
2-27262622-C-T | c.1539C>T | p.G513= | Synonymous | 14/17 | - | 2 |
2-27262624-G-T | c.1541G>T | p.R514L | Missense | 14/17 | - | 1 |
2-27262629-C-A | c.1546C>A | p.L516I | Missense | 14/17 | - | 1 |
2-27262632-C-T | c.1549C>T | p.R517* | Nonsense | 14/17 | - | 1 |
2-27262633-G-A | c.1550G>A | p.R517Q | Missense | 14/17 | - | 3 |
2-27262635-T-C | c.1552T>C | p.S518P | Missense | 14/17 | - | 1 |
2-27262644-T-C | c.1561T>C | p.F521L | Missense | 14/17 | - | 1 |
2-27262646-C-A | c.1563C>A | p.F521L | Missense | 14/17 | - | 1 |
2-27262646-C-G | c.1563C>G | p.F521L | Missense | 14/17 | - | 1 |
2-27262647-T-A | c.1564T>A | p.L522I | Missense | 14/17 | - | 1 |
2-27262648-T-C | c.1565T>C | p.L522S | Missense | 14/17 | - | 2 |
2-27262650-C-T | c.1567C>T | p.P523S | Missense | 14/17 | - | 1 |
2-27262651-C-A | c.1568C>A | p.P523H | Missense | 14/17 | - | 1 |
2-27262658-C-T | c.1575C>T | p.S525= | Synonymous | 14/17 | - | 3 |
2-27262659-C-T | c.1576C>T | p.Q526* | Nonsense | 14/17 | - | 2 |
2-27262667-G-A | c.1584G>A | p.A528= | Synonymous | 14/17 | - | 1 |
2-27262667-G-C | c.1584G>C | p.A528= | Synonymous | 14/17 | - | 1 |
2-27262667-G-T | c.1584G>T | p.A528= | Synonymous | 14/17 | - | 1 |
2-27262671-G-A | c.1588G>A | p.A530T | Missense | 14/17 | - | 7 |
2-27262674-A-G | c.1591A>G | p.K531E | Missense | 14/17 | - | 1 |
2-27262685-C-T | c.1602C>T | p.S534= | Synonymous | 14/17 | - | 3 |
2-27262696-A-C | c.1613A>C | p.Q538P | Missense | 14/17 | - | 1 |
2-27262698-G-A | c.1615G>A | p.G539S | Missense | 14/17 | - | 1 |
2-27262702-A-G | c.1619A>G | p.Y540C | Missense | 14/17 | - | 1 |
2-27262704-AG-TA | c.1621_1622delinsTA | p.S541Y | Missense | 14/17 | - | 1 |
2-27262763-GGGA-G | c.1622+64_1622+66del | - | IntronicDeletion | - | 14/16 | 2 |
2-27262909-A-G | c.1634A>G | p.E545G | Missense | 15/17 | - | 1 |
2-27262912-C-T | c.1637C>T | p.T546I | Missense | 15/17 | - | 2 |
2-27262916-G-T | c.1641G>T | p.L547= | Synonymous | 15/17 | - | 1 |
2-27262919-G-A | c.1644G>A | p.P548= | Synonymous | 15/17 | - | 1 |
2-27262919-G-T | c.1644G>T | p.P548= | Synonymous | 15/17 | - | 1 |
2-27262920-C-T | c.1645C>T | p.L549F | Missense | 15/17 | - | 1 |
2-27262941-A-G | c.1666A>G | p.T556A | Missense | 15/17 | - | 1 |
2-27262943-C-A | c.1668C>A | p.T556= | Synonymous | 15/17 | - | 1 |
2-27262943-C-G | c.1668C>G | p.T556= | Synonymous | 15/17 | - | 1 |
2-27262943-C-T | c.1668C>T | p.T556= | Synonymous | 15/17 | - | 2 |
2-27262945-T-C | c.1670T>C | p.V557A | Missense | 15/17 | - | 1 |
2-27262950-C-T | c.1675C>T | p.R559W | Missense | 15/17 | - | 2 |
2-27262962-C-A | c.1687C>A | p.Q563K | Missense | 15/17 | - | 1 |
2-27262965-C-T | c.1690C>T | p.L564= | Synonymous | 15/17 | - | 1 |
2-27262967-G-A | c.1692G>A | p.L564= | Synonymous | 15/17 | - | 1 |
2-27262967-G-C | c.1692G>C | p.L564= | Synonymous | 15/17 | - | 1 |
2-27262967-G-T | c.1692G>T | p.L564= | Synonymous | 15/17 | - | 1 |
2-27262977-C-T | c.1702C>T | p.H568Y | Missense | 15/17 | - | 1 |
2-27262980-A-G | c.1705A>G | p.T569A | Missense | 15/17 | - | 1 |
2-27262984-A-G | c.1709A>G | p.N570S | Missense | 15/17 | - | 1 |
2-27262984-A-T | c.1709A>T | p.N570I | Missense | 15/17 | - | 1 |
2-27262990-C-T | c.1715C>T | p.T572I | Missense | 15/17 | - | 2 |
2-27262994-C-G | c.1719C>G | p.V573= | Synonymous | 15/17 | - | 2 |
2-27263000-C-T | c.1725C>T | p.F575= | Synonymous | 15/17 | - | 3 |
2-27263004-TC-GG | c.1729_1730delinsGG | p.S577G | Missense | 15/17 | - | 1 |
2-27263005-C-T | c.1730C>T | p.S577F | Missense | 15/17 | - | 2 |
2-27263006-T-C | c.1731T>C | p.S577= | Synonymous | 15/17 | - | 1 |
2-27263006-T-G | c.1731T>G | p.S577= | Synonymous | 15/17 | - | 1 |
2-27263017-C-A | c.1742C>A | p.A581D | Missense | 15/17 | - | 1 |
2-27263017-C-G | c.1742C>G | p.A581G | Missense | 15/17 | - | 1 |
2-27263028-G-A | c.1753G>A | p.A585T | Missense | 15/17 | - | 1 |
2-27263028-G-C | c.1753G>C | p.A585P | Missense | 15/17 | - | 1 |
2-27263030-G-A | c.1755G>A | p.A585= | Synonymous | 15/17 | - | 1 |
2-27263030-G-C | c.1755G>C | p.A585= | Synonymous | 15/17 | - | 1 |
2-27263030-G-T | c.1755G>T | p.A585= | Synonymous | 15/17 | - | 1 |
2-27263054-T-C | c.1779T>C | p.S593= | Synonymous | 15/17 | - | 1 |
2-27263122-T-C | c.1791+56T>C | - | IntronicSNV | - | 15/16 | 8 |
2-27263227-C-T | c.1806C>T | p.L602= | Synonymous | 16/17 | - | 1 |
2-27263228-C-T | c.1807C>T | p.P603S | Missense | 16/17 | - | 3 |
2-27263230-C-A | c.1809C>A | p.P603= | Synonymous | 16/17 | - | 3 |
2-27263230-C-G | c.1809C>G | p.P603= | Synonymous | 16/17 | - | 2 |
2-27263230-C-T | c.1809C>T | p.P603= | Synonymous | 16/17 | - | 4 |
2-27263231-G-A | c.1810G>A | p.D604N | Missense | 16/17 | - | 1 |
2-27263231-G-T | c.1810G>T | p.D604Y | Missense | 16/17 | - | 2 |
2-27263235-C-T | c.1814C>T | p.S605F | Missense | 16/17 | - | 1 |
2-27263246-C-T | c.1825C>T | p.L609= | Synonymous | 16/17 | - | 1 |
2-27263248-A-C | c.1827A>C | p.L609= | Synonymous | 16/17 | - | 1 |
2-27263248-A-G | c.1827A>G | p.L609= | Synonymous | 16/17 | - | 1 |
2-27263248-A-T | c.1827A>T | p.L609= | Synonymous | 16/17 | - | 1 |
2-27263258-C-T | c.1837C>T | p.L613= | Synonymous | 16/17 | - | 1 |
2-27263260-G-A | c.1839G>A | p.L613= | Synonymous | 16/17 | - | 1 |
2-27263260-G-C | c.1839G>C | p.L613= | Synonymous | 16/17 | - | 1 |
2-27263260-G-T | c.1839G>T | p.L613= | Synonymous | 16/17 | - | 1 |
2-27263265-GA-G | c.1844del | p.E615Gfs*37 | Frameshift | 16/17 | - | 1 |
2-27263267-C-T | c.1846C>T | p.L616= | Synonymous | 16/17 | - | 2 |
2-27263269-G-A | c.1848G>A | p.L616= | Synonymous | 16/17 | - | 1 |
2-27263269-G-C | c.1848G>C | p.L616= | Synonymous | 16/17 | - | 1 |
2-27263269-G-T | c.1848G>T | p.L616= | Synonymous | 16/17 | - | 1 |
2-27263272-C-A | c.1851C>A | p.P617= | Synonymous | 16/17 | - | 1 |
2-27263278-T-C | c.1857T>C | p.L619= | Synonymous | 16/17 | - | 1 |
2-27263281-C-T | c.1860C>T | p.F620= | Synonymous | 16/17 | - | 3 |
2-27263287-G-A | c.1866G>A | p.Q622= | Synonymous | 16/17 | - | 2 |
2-27263291-G-A | c.1870G>A | p.V624M | Missense | 16/17 | - | 1 |
2-27263295-T-G | c.1874T>G | p.L625R | Missense | 16/17 | - | 1 |
2-27263298-T-C | c.1877T>C | p.L626P | Missense | 16/17 | - | 1 |
2-27263303-C-T | c.1882C>T | p.L628= | Synonymous | 16/17 | - | 1 |
2-27263307-G-T | c.1886G>T | p.W629L | Missense | 16/17 | - | 1 |
2-27263311-C-A | c.1890C>A | p.H630Q | Missense | 16/17 | - | 1 |
2-27263314-C-A | c.1893C>A | p.L631= | Synonymous | 16/17 | - | 1 |
2-27263314-C-G | c.1893C>G | p.L631= | Synonymous | 16/17 | - | 1 |
2-27263314-C-T | c.1893C>T | p.L631= | Synonymous | 16/17 | - | 1 |
2-27263326-C-T | c.1905C>T | p.A635= | Synonymous | 16/17 | - | 3 |
2-27263358-C-G | c.1937C>G | p.A646G | Missense | 16/17 | - | 1 |
2-27263359-A-C | c.1938A>C | p.A646= | Synonymous | 16/17 | - | 2 |
2-27263359-A-G | c.1938A>G | p.A646= | Synonymous | 16/17 | - | 3 |
2-27263359-A-T | c.1938A>T | p.A646= | Synonymous | 16/17 | - | 2 |
2-27263361-G-A | c.1940G>A | p.C647Y | Missense | 16/17 | - | 3 |
2-27263387-C-T | c.1943+23C>T | - | IntronicSNV | - | 16/16 | 1 |
2-27263544-C-G | c.1944-35C>G | - | IntronicSNV | - | 16/16 | 1 |
2-27263544-C-T | c.1944-35C>T | - | IntronicSNV | - | 16/16 | 1 |
2-27263565-C-T | c.1944-14C>T | - | IntronicSNV | - | 16/16 | 1 |
2-27263584-A-G | c.1949A>G | p.E650G | Missense | 17/17 | - | 1 |
2-27263596-A-T | c.1961A>T | p.D654V | Missense | 17/17 | - | 1 |
2-27263600-C-T | c.1965C>T | p.C655= | Synonymous | 17/17 | - | 1 |
2-27263601-A-G | c.1966A>G | p.M656V | Missense | 17/17 | - | 2 |
2-27263609-ACAG-A | c.1976_1978del | p.Q659del | InFrameDeletion | 17/17 | - | 1 |
2-27263616-A-T | c.1981A>T | p.S661C | Missense | 17/17 | - | 4 |
2-27263619-G-A | c.1984G>A | p.E662K | Missense | 17/17 | - | 1 |
2-27263629-A-C | c.1994A>C | p.H665P | Missense | 17/17 | - | 1 |
2-27263629-A-T | c.1994A>T | p.H665L | Missense | 17/17 | - | 1 |
2-27263631-T-A | c.1996T>A | p.W666R | Missense | 17/17 | - | 1 |
2-27263647-T-C | c.2012T>C | p.L671P | Missense | 17/17 | - | 2 |
2-27263653-A-G | c.2018A>G | p.D673G | Missense | 17/17 | - | 1 |
2-27263664-G-C | c.2029G>C | p.A677P | Missense | 17/17 | - | 1 |
2-27263669-C-T | c.2034C>T | p.F678= | Synonymous | 17/17 | - | 2 |
2-27263682-C-A | c.2047C>A | p.L683I | Missense | 17/17 | - | 1 |
2-27263682-C-T | c.2047C>T | p.L683F | Missense | 17/17 | - | 2 |
2-27263688-C-G | c.2053C>G | p.L685V | Missense | 17/17 | - | 1 |
2-27263688-C-T | c.2053C>T | p.L685= | Synonymous | 17/17 | - | 1 |
2-27263690-G-A | c.2055G>A | p.L685= | Synonymous | 17/17 | - | 1 |
2-27263690-G-C | c.2055G>C | p.L685= | Synonymous | 17/17 | - | 1 |
2-27263690-G-T | c.2055G>T | p.L685= | Synonymous | 17/17 | - | 1 |
2-27263691-A-C | c.2056A>C | p.I686L | Missense | 17/17 | - | 2 |
2-27263693-A-C | c.2058A>C | p.I686= | Synonymous | 17/17 | - | 1 |
2-27263693-A-T | c.2058A>T | p.I686= | Synonymous | 17/17 | - | 1 |
2-27263694-T-C | c.2059T>C | p.S687P | Missense | 17/17 | - | 1 |
2-27263695-C-T | c.2060C>T | p.S687F | Missense | 17/17 | - | 1 |
2-27264274-C-T | c.*569C>T | - | 3-UTRSNV | 17/17 | - | 1 |