| 基因名 | 突变 |
|---|---|
| SQLE(NM_003129,squalene epoxidase,574aa) | g.8:126011686A>C,c.41A>C,p.Y14S |
| SPZ1(NM_032567,spermatogenic leucine zipper 1,430aa) | g.5:79617215G>A,c.1181G>A,p.C394Y |
| SPZ1(NM_032567,spermatogenic leucine zipper 1,430aa) | g.5:79617051del,c.1017del,p.339fs |
| SPZ1(NM_032567,spermatogenic leucine zipper 1,430aa) | g.5:79616936A>C,c.902A>C,p.H301P |
| SPZ1(NM_032567,spermatogenic leucine zipper 1,430aa) | g.5:79616641G>A,c.607G>A,p.A203T |
| SPZ1(NM_032567,spermatogenic leucine zipper 1,430aa) | g.5:79616573C>A,c.539C>A,p.A180D |
| SPZ1(NM_032567,spermatogenic leucine zipper 1,430aa) | g.5:79616544G>A,c.510G>A,p.M170I |
| SPZ1(NM_032567,spermatogenic leucine zipper 1,430aa) | g.5:79616278A>G,c.244A>G,p.N82D |
| SPZ1(NM_032567,spermatogenic leucine zipper 1,430aa) | g.5:79616117T>C,c.83T>C,p.L28P |
| SPZ1(NM_032567,spermatogenic leucine zipper 1,430aa) | g.5:79616101C>A,c.67C>A,p.P23T |
| SPZ1(NM_032567,spermatogenic leucine zipper 1,430aa) | g.5:79616083G>C,c.49G>C,p.V17L |
| SPZ1(NM_032567,spermatogenic leucine zipper 1,430aa) | g.5:79616059G>A,c.25G>A,p.E9K |
| SPTY2D1(NM_194285,SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae),685aa) | g.11:18637520T>C,c.301A>G,p.I101V |
| SPTY2D1(NM_194285,SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae),685aa) | g.11:18637499_18637501del,c.320_322del,p.107_108del |
| SPTY2D1(NM_194285,SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae),685aa) | g.11:18637063G>A,c.758C>T,p.S253F |
| SPTY2D1(NM_194285,SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae),685aa) | g.11:18637009T>C,c.812A>G,p.N271S |
| SPTY2D1(NM_194285,SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae),685aa) | g.11:18636481C>T,c.1340G>A,p.R447Q |
| SPTY2D1(NM_194285,SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae),685aa) | g.11:18636362G>A,c.1459C>T,p.R487W |
| SPTY2D1(NM_194285,SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae),685aa) | g.11:18636361C>T,c.1460G>A,p.R487Q |
| SPTY2D1(NM_194285,SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae),685aa) | g.11:18633897T>C,c.1850A>G,p.K617R |
| SPTSSA(NM_138288,serine palmitoyltransferase, small subunit A,71aa) | g.14:34931404T>C,c.10A>G,p.M4V |
| SPTSSA(NM_138288,serine palmitoyltransferase, small subunit A,71aa) | g.14:34904429T>C,c.194A>G,p.H65R |
| SPTLC3(NM_018327,serine palmitoyltransferase, long chain base subunit 3,552aa) | g.20:13140720G>A,c.1486G>A,p.A496T |
| SPTLC3(NM_018327,serine palmitoyltransferase, long chain base subunit 3,552aa) | g.20:13140708G>A,c.1474G>A,p.A492T |
| SPTLC3(NM_018327,serine palmitoyltransferase, long chain base subunit 3,552aa) | g.20:13053018T>G,c.418T>G,p.L140V |
| SPTLC3(NM_018327,serine palmitoyltransferase, long chain base subunit 3,552aa) | g.20:13052983G>A,c.383G>A,p.R128Q |
| SPTLC2(NM_004863,serine palmitoyltransferase, long chain base subunit 2,562aa) | g.14:78045374G>A,c.406C>T,p.R136W |
| SPTLC2(NM_004863,serine palmitoyltransferase, long chain base subunit 2,562aa) | g.14:77978652G>A,c.1664C>T,p.T555M |