基因名 |
突变 |
TSNAXIP1(NM_018430,translin-associated factor X interacting protein 1,658aa) |
g.16:67859955C>T,c.958C>T,p.R320W |
TSNAXIP1(NM_018430,translin-associated factor X interacting protein 1,658aa) |
g.16:67859854G>A,c.857G>A,p.R286H |
TSNAXIP1(NM_018430,translin-associated factor X interacting protein 1,658aa) |
g.16:67859708_67859710del,c.791_793del,p.264_265del |
TSNAXIP1(NM_018430,translin-associated factor X interacting protein 1,658aa) |
g.16:67859577G>C,c.660G>C,p.W220C |
TSNAXIP1(NM_018430,translin-associated factor X interacting protein 1,658aa) |
g.16:67859170C>T,c.647C>T,p.S216L |
TSNAXIP1(NM_018430,translin-associated factor X interacting protein 1,658aa) |
g.16:67859098A>G,c.575A>G,p.D192G |
TSNAXIP1(NM_018430,translin-associated factor X interacting protein 1,658aa) |
g.16:67859095G>A,c.572G>A,p.R191Q |
TSNAXIP1(NM_018430,translin-associated factor X interacting protein 1,658aa) |
g.16:67854847C>T,c.91C>T,p.R31X |
TSNAXIP1(NM_018430,translin-associated factor X interacting protein 1,658aa) |
g.16:67854842G>A,c.86G>A,p.R29Q |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143436060C>G,c.26G>C,p.G9A |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143436043G>A,c.43C>T,p.R15C |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143436034A>G,c.52T>C,p.F18L |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143436031C>T,c.55G>A,p.G19R |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143436006T>C,c.80A>G,p.Q27R |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143427205G>A,c.137C>T,p.P46L |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143427178C>G,c.164G>C,p.R55P |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143427133G>A,c.209C>T,p.T70M |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143425720T>C,c.352A>G,p.T118A |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143425713C>T,c.359G>A,p.R120Q |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143425588G>A,c.484C>T,p.R162C |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143425506C>T,c.566G>A,p.R189Q |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143425464C>T,c.608G>A,p.R203Q |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143425458G>A,c.614C>T,p.A205V |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143425354C>T,c.718G>A,p.E240K |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143425335G>A,c.737C>T,p.P246L |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143413177G>A,c.761C>T,p.P254L |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143413136C>T,c.802G>A,p.V268I |
TSNARE1(NM_145003,t-SNARE domain containing 1,513aa) |
g.8:143413129C>T,c.809G>A,p.R270Q |