| 基因名 | 突变 |
|---|---|
| LSMEM2(NM_153215,leucine-rich single-pass membrane protein 2,164aa) | g.3:50324536C>T,c.398C>T,p.T133M |
| LSMEM2(NM_153215,leucine-rich single-pass membrane protein 2,164aa) | g.3:50324269G>A,c.337G>A,p.A113T |
| LSMEM2(NM_153215,leucine-rich single-pass membrane protein 2,164aa) | g.3:50324215C>T,c.283C>T,p.R95X |
| LSMEM2(NM_153215,leucine-rich single-pass membrane protein 2,164aa) | g.3:50324185G>T,c.253G>T,p.A85S |
| LSMEM1(NM_182597,leucine-rich single-pass membrane protein 1,131aa) | g.7:112129991C>T,c.383C>T,p.S128F |
| LSMEM1(NM_182597,leucine-rich single-pass membrane protein 1,131aa) | g.7:112129988A>G,c.380A>G,p.D127G |
| LSMEM1(NM_182597,leucine-rich single-pass membrane protein 1,131aa) | g.7:112124984C>T,c.113C>T,p.S38L |
| LSMD1(NM_032356,LSM domain containing 1,173aa) | g.17:7760704A>G,c.38T>C,p.L13P |
| LSMD1(NM_032356,LSM domain containing 1,173aa) | g.17:7760574C>T,c.168G>A,p.W56X |
| LSMD1(NM_032356,LSM domain containing 1,173aa) | g.17:7760480G>T,c.262C>A,p.R88S |
| LSMD1(NM_032356,LSM domain containing 1,173aa) | g.17:7760158G>T,c.413C>A,p.S138Y |
| LSMD1(NM_032356,LSM domain containing 1,173aa) | g.17:7760054G>A,c.517C>T,p.L173F |
| LSM1(NM_014462,LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae),133aa) | g.8:38029512A>G,c.86T>C,p.I29T |
| LSM14B(NM_144703,LSM14B, SCD6 homolog B (S. cerevisiae),385aa) | g.20:60708447G>A,c.1088G>A,p.R363Q |
| LSM14B(NM_144703,LSM14B, SCD6 homolog B (S. cerevisiae),385aa) | g.20:60704972G>A,c.559G>A,p.G187S |
| LSM14B(NM_144703,LSM14B, SCD6 homolog B (S. cerevisiae),385aa) | g.20:60704961C>T,c.548C>T,p.T183M |
| LSM14B(NM_144703,LSM14B, SCD6 homolog B (S. cerevisiae),385aa) | g.20:60704940C>A,c.527C>A,p.P176H |
| LSM14A(NM_001114093,LSM14A, SCD6 homolog A (S. cerevisiae),463aa) | g.19:34712642G>C,c.1367G>C,p.R456T |
| LSM14A(NM_001114093,LSM14A, SCD6 homolog A (S. cerevisiae),463aa) | g.19:34712618G>A,c.1343G>A,p.R448Q |
| LSM14A(NM_001114093,LSM14A, SCD6 homolog A (S. cerevisiae),463aa) | g.19:34712594G>A,c.1319G>A,p.G440E |
| LSM14A(NM_001114093,LSM14A, SCD6 homolog A (S. cerevisiae),463aa) | g.19:34706531A>G,c.746A>G,p.N249S |
| LSM14A(NM_001114093,LSM14A, SCD6 homolog A (S. cerevisiae),463aa) | g.19:34706203G>A,c.713G>A,p.R238Q |
| LSM14A(NM_001114093,LSM14A, SCD6 homolog A (S. cerevisiae),463aa) | g.19:34687596G>A,c.343G>A,p.G115S |
| LSM14A(NM_001114093,LSM14A, SCD6 homolog A (S. cerevisiae),463aa) | g.19:34687560T>C,c.307T>C,p.S103P |
| LSM11(NM_173491,LSM11, U7 small nuclear RNA associated,360aa) | g.5:157170966G>A,c.208G>A,p.G70S |
| LSM11(NM_173491,LSM11, U7 small nuclear RNA associated,360aa) | g.5:157170775G>T,c.17G>T,p.R6L |
| LSM10(NM_032881,LSM10, U7 small nuclear RNA associated,123aa) | g.1:36859487C>T,c.244G>A,p.V82I |
| LSM10(NM_032881,LSM10, U7 small nuclear RNA associated,123aa) | g.1:36859456G>A,c.275C>T,p.S92L |