基因名 |
突变 |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64683104A>G,c.19541A>G,p.Y6514C |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64681059G>A,c.19204G>A,p.E6402K |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64680990C>T,c.19135C>T,p.R6379C |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64678806G>A,c.18851G>A,p.R6284H |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64676832G>A,c.18713G>A,p.R6238Q |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64676760G>A,c.18641G>A,p.R6214K |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64676751C>T,c.18632C>T,p.T6211M |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64676265C>T,c.18509C>T,p.T6170M |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64675506G>A,c.18232G>A,p.A6078T |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64653146T>C,c.17561T>C,p.L5854P |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64644190G>A,c.17545G>A,p.E5849K |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64641690G>A,c.17264G>A,p.R5755Q |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64636978C>T,c.17033C>T,p.T5678M |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64635674C>T,c.16985C>T,p.T5662I |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64634074C>T,c.16729C>T,p.R5577W |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64633984G>A,c.16639G>A,p.D5547N |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64630225C>A,c.16405C>A,p.P5469T |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64630194A>T,c.16374A>T,p.Q5458H |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64630130A>G,c.16310A>G,p.H5437R |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64628873C>T,c.16178C>T,p.A5393V |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64625398A>G,c.15848A>G,p.D5283G |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64625344T>C,c.15794T>C,p.V5265A |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64612858C>A,c.15556C>A,p.L5186M |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64608756C>T,c.15256C>T,p.H5086Y |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64608066C>T,c.14984C>T,p.S4995L |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64608065T>A,c.14983T>A,p.S4995T |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64604595G>A,c.14737G>A,p.E4913K |
SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) |
g.14:64604592C>G,c.14734C>G,p.P4912A |