基因名 |
突变 |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152536152C>T,c.22235G>A,p.R7412H |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152536084G>A,c.22303C>T,p.R7435C |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152532702T>C,c.22516A>G,p.S7506G |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152527407C>T,c.22915G>A,p.A7639T |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152527344G>A,c.22978C>T,p.R7660W |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152522988C>G,c.23116G>C,p.E7706Q |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152501416C>T,c.23315G>A,p.R7772Q |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152501357G>T,c.23374C>A,p.L7792I |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152501311C>A,c.23420G>T,p.G7807V |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152497674T>C,c.23482A>G,p.I7828V |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152485429C>T,c.23659G>A,p.V7887M |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152485345C>T,c.23743G>A,p.D7915N |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152472789G>A,c.24349C>T,p.R8117W |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152470773T>G,c.24481A>C,p.N8161H |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152470766A>G,c.24488T>C,p.I8163T |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152470752C>A,c.24502G>T,p.A8168S |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152470649C>T,c.24605G>A,p.R8202H |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152470620G>A,c.24634C>T,p.R8212C |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152469433G>C,c.24723C>G,p.H8241Q |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152469428C>T,c.24728G>A,p.R8243H |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152469341C>T,c.24815G>A,p.R8272Q |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152469278C>T,c.24878G>A,p.R8293Q |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152469204G>A,c.24952C>T,p.L8318F |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152469188C>G,c.24968G>C,p.G8323A |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152464786G>A,c.25091C>T,p.P8364L |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152462361T>C,c.25223A>G,p.H8408R |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152462359T>C,c.25225A>G,p.S8409G |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152461140C>T,c.25403G>A,p.R8468H |