基因名 |
突变 |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152665261C>A,c.12180G>T,p.E4060D |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152660377G>A,c.12350C>T,p.T4117M |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152658142T>C,c.12362A>G,p.K4121R |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152658141C>A,c.12363G>T,p.K4121N |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152658062C>G,c.12442G>C,p.D4148H |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152655372C>T,c.12565G>A,p.V4189M |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152655330C>T,c.12607G>A,p.E4203K |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152655323G>A,c.12614C>T,p.S4205L |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152655269C>T,c.12668G>A,p.R4223H |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152652850G>A,c.12970C>T,p.R4324C |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152652849C>T,c.12971G>A,p.R4324H |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152652673G>A,c.13147C>T,p.L4383F |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152652612G>A,c.13208C>T,p.S4403L |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152652508T>G,c.13312A>C,p.S4438R |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152652489C>T,c.13331G>A,p.R4444Q |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152652310T>G,c.13510A>C,p.K4504Q |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152652184C>T,c.13636G>A,p.V4546I |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152652096C>A,c.13724G>T,p.C4575F |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152652051T>C,c.13769A>G,p.N4590S |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152652034A>T,c.13786T>A,p.S4596T |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152651971T>G,c.13849A>C,p.N4617H |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152651911C>T,c.13909G>A,p.D4637N |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152651704C>T,c.14116G>A,p.V4706I |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152651557G>A,c.14263C>T,p.L4755F |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152651539T>C,c.14281A>G,p.R4761G |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152651485C>T,c.14335G>A,p.A4779T |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152651397G>A,c.14423C>T,p.T4808M |
SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) |
g.6:152651196G>A,c.14624C>T,p.T4875M |