| 基因名 | 突变 |
|---|---|
| YJEFN3(NM_198537,YjeF N-terminal domain containing 3,299aa) | g.19:19645936C>T,c.412C>T,p.R138W |
| YJEFN3(NM_198537,YjeF N-terminal domain containing 3,299aa) | g.19:19645844C>T,c.320C>T,p.A107V |
| YJEFN3(NM_198537,YjeF N-terminal domain containing 3,299aa) | g.19:19640309C>A,c.196C>A,p.P66T |
| YIPF7(NM_182592,Yip1 domain family, member 7,280aa) | g.4:44652030C>T,c.160G>A,p.A54T |
| YIPF7(NM_182592,Yip1 domain family, member 7,280aa) | g.4:44652018G>A,c.172C>T,p.L58F |
| YIPF7(NM_182592,Yip1 domain family, member 7,280aa) | g.4:44631525C>A,c.393G>T,p.L131F |
| YIPF5(NM_001024947,Yip1 domain family, member 5,257aa) | g.5:143549496G>C,c.24C>G,p.N8K |
| YIPF5(NM_001024947,Yip1 domain family, member 5,257aa) | g.5:143545052G>A,c.227C>T,p.A76V |
| YIPF5(NM_001024947,Yip1 domain family, member 5,257aa) | g.5:143543740T>C,c.364A>G,p.M122V |
| YIPF5(NM_001024947,Yip1 domain family, member 5,257aa) | g.5:143543713T>C,c.391A>G,p.M131V |
| YIPF5(NM_001024947,Yip1 domain family, member 5,257aa) | g.5:143539969C>T,c.766G>A,p.V256I |
| YIPF4(NM_032312,Yip1 domain family, member 4,244aa) | g.2:32530639A>G,c.679A>G,p.I227V |
| YIPF4(NM_032312,Yip1 domain family, member 4,244aa) | g.2:32526547G>A,c.580G>A,p.V194M |
| YIPF4(NM_032312,Yip1 domain family, member 4,244aa) | g.2:32517384C>G,c.372C>G,p.F124L |
| YIPF3(NM_015388,Yip1 domain family, member 3,350aa) | g.6:43484532G>A,c.14C>T,p.A5V |
| YIPF3(NM_015388,Yip1 domain family, member 3,350aa) | g.6:43484499C>A,c.47G>T,p.G16V |
| YIPF3(NM_015388,Yip1 domain family, member 3,350aa) | g.6:43484480G>C,c.66C>G,p.F22L |
| YIPF3(NM_015388,Yip1 domain family, member 3,350aa) | g.6:43480045C>A,c.913G>T,p.D305Y |
| YIPF3(NM_015388,Yip1 domain family, member 3,350aa) | g.6:43479979G>A,c.979C>T,p.P327S |
| YIPF3(NM_015388,Yip1 domain family, member 3,350aa) | g.6:43479927G>A,c.1031C>T,p.A344V |
| YIPF2(NM_024029,Yip1 domain family, member 2,316aa) | g.19:11034677_11034678insG,c.485-2insC,p.162Acceptorins |
| YIPF2(NM_024029,Yip1 domain family, member 2,316aa) | g.19:11034663C>G,c.497G>C,p.G166A |
| YIPF2(NM_024029,Yip1 domain family, member 2,316aa) | g.19:11034607G>A,c.553C>T,p.R185W |
| YIPF2(NM_024029,Yip1 domain family, member 2,316aa) | g.19:11034582C>T,c.578G>A,p.R193H |
| YIPF2(NM_024029,Yip1 domain family, member 2,316aa) | g.19:11034281C>T,c.724G>A,p.G242R |
| YIPF2(NM_024029,Yip1 domain family, member 2,316aa) | g.19:11034058G>A,c.860C>T,p.P287L |
| YIPF2(NM_024029,Yip1 domain family, member 2,316aa) | g.19:11034008C>T,c.910G>A,p.A304T |
| YIPF1(NM_018982,Yip1 domain family, member 1,306aa) | g.1:54348914G>T,c.67C>A,p.P23T |