基因名 |
突变 |
ZFYVE19(NM_001077268,zinc finger, FYVE domain containing 19,471aa) |
g.15:41105926T>G,c.1126T>G,p.S376A |
ZFYVE19(NM_001077268,zinc finger, FYVE domain containing 19,471aa) |
g.15:41102326G>A,c.629G>A,p.R210H |
ZFYVE19(NM_001077268,zinc finger, FYVE domain containing 19,471aa) |
g.15:41102150C>T,c.553C>T,p.R185C |
ZFYVE19(NM_001077268,zinc finger, FYVE domain containing 19,471aa) |
g.15:41100001C>G,c.214C>G,p.L72V |
ZFYVE19(NM_001077268,zinc finger, FYVE domain containing 19,471aa) |
g.15:41099948C>T,c.161C>T,p.P54L |
ZFYVE19(NM_001077268,zinc finger, FYVE domain containing 19,471aa) |
g.15:41099899T>C,c.112T>C,p.W38R |
ZFYVE19(NM_001077268,zinc finger, FYVE domain containing 19,471aa) |
g.15:41099899_41099900insGGGGC,c.112_113insGGGGC,p.38fs |
ZFYVE19(NM_001077268,zinc finger, FYVE domain containing 19,471aa) |
g.15:41099819C>T,c.32C>T,p.P11L |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79773132C>A,c.4556C>A,p.T1519N |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79773051C>T,c.4475C>T,p.A1492V |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79770627G>A,c.4439G>A,p.R1480K |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79768625G>A,c.4070G>A,p.R1357Q |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79768610C>T,c.4055C>T,p.T1352I |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79768604C>G,c.4049C>G,p.P1350R |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79755260A>G,c.3971A>G,p.N1324S |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79752879A>G,c.3911A>G,p.Q1304R |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79746349C>T,c.3326C>T,p.T1109I |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79745469A>G,c.3163A>G,p.S1055G |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79744106T>A,c.2986T>A,p.S996T |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79744061C>T,c.2941C>T,p.P981S |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79741133C>T,c.2633C>T,p.P878L |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79734726A>G,c.2222A>G,p.Q741R |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79734693C>T,c.2189C>T,p.T730I |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79734297T>C,c.1793T>C,p.I598T |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79734206G>A,c.1702G>A,p.G568S |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79734201T>C,c.1697T>C,p.M566T |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79733654A>G,c.1150A>G,p.M384V |
ZFYVE16(NM_001105251,zinc finger, FYVE domain containing 16,1539aa) |
g.5:79733634G>A,c.1130G>A,p.C377Y |