| 基因名 | 突变 |
|---|---|
| YBEY(NM_001006114,ybeY metallopeptidase (putative),121aa) | g.21:47706830G>A,c.3G>A,p.M1I |
| YARS(NM_003680,tyrosyl-tRNA synthetase,528aa) | g.1:33248032C>T,c.1015G>A,p.A339T |
| YARS(NM_003680,tyrosyl-tRNA synthetase,528aa) | g.1:33245774G>T,c.1246C>A,p.Q416K |
| YARS(NM_003680,tyrosyl-tRNA synthetase,528aa) | g.1:33245687T>C,c.1333A>G,p.I445V |
| YARS2(NM_001040436,tyrosyl-tRNA synthetase 2, mitochondrial,477aa) | g.12:32908705G>T,c.104C>A,p.A35D |
| YARS2(NM_001040436,tyrosyl-tRNA synthetase 2, mitochondrial,477aa) | g.12:32908237C>A,c.572G>T,p.G191V |
| YARS2(NM_001040436,tyrosyl-tRNA synthetase 2, mitochondrial,477aa) | g.12:32906865C>G,c.934G>C,p.D312H |
| YARS2(NM_001040436,tyrosyl-tRNA synthetase 2, mitochondrial,477aa) | g.12:32903765G>A,c.991C>T,p.H331Y |
| YAP1(NM_001282101,Yes-associated protein 1,508aa) | g.11:102080254C>T,c.1003C>T,p.R335W |
| YAE1D1(NM_020192,Yae1 domain containing 1,226aa) | g.7:39612270T>C,c.646T>C,p.S216P |
| YAE1D1(NM_020192,Yae1 domain containing 1,226aa) | g.7:39612201C>T,c.577C>T,p.H193Y |
| YAE1D1(NM_020192,Yae1 domain containing 1,226aa) | g.7:39612012G>T,c.388G>T,p.V130F |
| YAE1D1(NM_020192,Yae1 domain containing 1,226aa) | g.7:39612003C>T,c.379C>T,p.P127S |
| YAE1D1(NM_020192,Yae1 domain containing 1,226aa) | g.7:39611992C>T,c.368C>T,p.S123L |
| YAE1D1(NM_020192,Yae1 domain containing 1,226aa) | g.7:39610177A>G,c.202A>G,p.K68E |
| XYLT2(NM_022167,xylosyltransferase II,865aa) | g.17:48437456C>G,c.2402C>G,p.T801R |
| XYLT2(NM_022167,xylosyltransferase II,865aa) | g.17:48435649G>A,c.2023G>A,p.V675M |
| XYLT2(NM_022167,xylosyltransferase II,865aa) | g.17:48434517G>C,c.1845G>C,p.Q615H |
| XYLT2(NM_022167,xylosyltransferase II,865aa) | g.17:48433958T>C,c.1569T>C,p.Y523Y |
| XYLT2(NM_022167,xylosyltransferase II,865aa) | g.17:48433306C>T,c.1253C>T,p.P418L |
| XYLT2(NM_022167,xylosyltransferase II,865aa) | g.17:48432324G>C,c.914G>C,p.R305T |
| XYLT2(NM_022167,xylosyltransferase II,865aa) | g.17:48432272C>T,c.862C>T,p.R288W |
| XYLT2(NM_022167,xylosyltransferase II,865aa) | g.17:48431903G>A,c.763G>A,p.V255I |
| XYLT2(NM_022167,xylosyltransferase II,865aa) | g.17:48431415A>G,c.560A>G,p.N187S |
| XYLT2(NM_022167,xylosyltransferase II,865aa) | g.17:48431303G>A,c.448G>A,p.A150T |
| XYLT2(NM_022167,xylosyltransferase II,865aa) | g.17:48431214G>A,c.359G>A,p.R120H |
| XYLT2(NM_022167,xylosyltransferase II,865aa) | g.17:48431144C>T,c.289C>T,p.R97W |
| XYLT2(NM_022167,xylosyltransferase II,865aa) | g.17:48431021G>A,c.166G>A,p.D56N |