基因名 |
突变 |
ZFYVE26(NM_015346,zinc finger, FYVE domain containing 26,2539aa) |
g.14:68219200C>T,c.7232G>A,p.R2411H |
ZFYVE26(NM_015346,zinc finger, FYVE domain containing 26,2539aa) |
g.14:68217786G>A,c.7399C>T,p.H2467Y |
ZFYVE26(NM_015346,zinc finger, FYVE domain containing 26,2539aa) |
g.14:68217782T>C,c.7403A>G,p.N2468S |
ZFYVE21(NM_001198953,zinc finger, FYVE domain containing 21,252aa) |
g.14:104198969G>A,c.593G>A,p.R198Q |
ZFYVE21(NM_001198953,zinc finger, FYVE domain containing 21,252aa) |
g.14:104198968C>T,c.592C>T,p.R198W |
ZFYVE21(NM_001198953,zinc finger, FYVE domain containing 21,252aa) |
g.14:104194228A>G,c.335A>G,p.K112R |
ZFYVE21(NM_001198953,zinc finger, FYVE domain containing 21,252aa) |
g.14:104182267T>A,c.89T>A,p.F30Y |
ZFYVE20(NM_022340,zinc finger, FYVE domain containing 20,784aa) |
g.3:15126283A>G,c.557T>C,p.M186T |
ZFYVE20(NM_022340,zinc finger, FYVE domain containing 20,784aa) |
g.3:15124034C>T,c.680G>A,p.R227H |
ZFYVE20(NM_022340,zinc finger, FYVE domain containing 20,784aa) |
g.3:15123971C>T,c.743G>A,p.R248Q |
ZFYVE20(NM_022340,zinc finger, FYVE domain containing 20,784aa) |
g.3:15123888C>T,c.826G>A,p.V276M |
ZFYVE20(NM_022340,zinc finger, FYVE domain containing 20,784aa) |
g.3:15116437C>T,c.1207G>A,p.A403T |
ZFYVE20(NM_022340,zinc finger, FYVE domain containing 20,784aa) |
g.3:15116371C>T,c.1273G>A,p.G425R |
ZFYVE20(NM_022340,zinc finger, FYVE domain containing 20,784aa) |
g.3:15116013G>A,c.1631C>T,p.T544I |
ZFYVE20(NM_022340,zinc finger, FYVE domain containing 20,784aa) |
g.3:15115920A>G,c.1724T>C,p.L575P |
ZFYVE20(NM_022340,zinc finger, FYVE domain containing 20,784aa) |
g.3:15115872A>G,c.1772T>C,p.L591P |
ZFYVE20(NM_022340,zinc finger, FYVE domain containing 20,784aa) |
g.3:15115723T>C,c.1921A>G,p.T641A |
ZFYVE20(NM_022340,zinc finger, FYVE domain containing 20,784aa) |
g.3:15115478C>T,c.2166G>A,p.M722I |
ZFYVE20(NM_022340,zinc finger, FYVE domain containing 20,784aa) |
g.3:15115375C>T,c.2269G>A,p.G757S |
ZFYVE1(NM_021260,zinc finger, FYVE domain containing 1,777aa) |
g.14:73491173C>A,c.44G>T,p.G15V |
ZFYVE1(NM_021260,zinc finger, FYVE domain containing 1,777aa) |
g.14:73491087G>A,c.130C>T,p.R44C |
ZFYVE1(NM_021260,zinc finger, FYVE domain containing 1,777aa) |
g.14:73491086C>T,c.131G>A,p.R44H |
ZFYVE1(NM_021260,zinc finger, FYVE domain containing 1,777aa) |
g.14:73490859C>T,c.358G>A,p.V120M |
ZFYVE1(NM_021260,zinc finger, FYVE domain containing 1,777aa) |
g.14:73464720C>T,c.787G>A,p.V263I |
ZFYVE1(NM_021260,zinc finger, FYVE domain containing 1,777aa) |
g.14:73460009G>A,c.1045C>T,p.R349C |
ZFYVE1(NM_021260,zinc finger, FYVE domain containing 1,777aa) |
g.14:73448541del,c.1266del,p.422fs |
ZFYVE1(NM_021260,zinc finger, FYVE domain containing 1,777aa) |
g.14:73437732T>C,c.2192A>G,p.K731R |
ZFYVE19(NM_001077268,zinc finger, FYVE domain containing 19,471aa) |
g.15:41105942G>A,c.1142G>A,p.S381N |