
| 基因名 | 突变 |
|---|---|
| IER3(NM_003897,immediate early response 3,156aa) | g.6:30711805C>G,c.379G>C,p.A127P |
| IER3(NM_003897,immediate early response 3,156aa) | g.6:30711759G>A,c.425C>T,p.A142V |
| IER3IP1(NM_016097,immediate early response 3 interacting protein 1,82aa) | g.18:44683830C>T,c.170G>A,p.R57Q |
| IER2(NM_004907,immediate early response 2,223aa) | g.19:13264398C>T,c.398C>T,p.A133V |
| IDUA(NM_000203,iduronidase, alpha-L-,653aa) | g.4:998080C>T,c.1861C>T,p.R621X |
| IDUA(NM_000203,iduronidase, alpha-L-,653aa) | g.4:998074C>G,c.1855C>G,p.R619G |
| IDUA(NM_000203,iduronidase, alpha-L-,653aa) | g.4:997190C>G,c.1582C>G,p.P528A |
| IDUA(NM_000203,iduronidase, alpha-L-,653aa) | g.4:996690G>A,c.1360G>A,p.V454I |
| IDUA(NM_000203,iduronidase, alpha-L-,653aa) | g.4:996555G>C,c.1225G>C,p.G409R |
| IDUA(NM_000203,iduronidase, alpha-L-,653aa) | g.4:996165G>A,c.1081G>A,p.A361T |
| IDUA(NM_000203,iduronidase, alpha-L-,653aa) | g.4:996115C>G,c.1031C>G,p.A344G |
| IDUA(NM_000203,iduronidase, alpha-L-,653aa) | g.4:995942T>A,c.965T>A,p.V322E |
| IDUA(NM_000203,iduronidase, alpha-L-,653aa) | g.4:995783C>G,c.806C>G,p.S269C |
| IDUA(NM_000203,iduronidase, alpha-L-,653aa) | g.4:994414G>A,c.314G>A,p.R105Q |
| IDUA(NM_000203,iduronidase, alpha-L-,653aa) | g.4:981684C>G,c.246C>G,p.H82Q |
| IDUA(NM_000203,iduronidase, alpha-L-,653aa) | g.4:980971T>G,c.99T>G,p.H33Q |
| IDS(NM_000202,iduronate 2-sulfatase,550aa) | g.X:148586576T>C,c.92A>G,p.N31S |
| IDS(NM_000202,iduronate 2-sulfatase,550aa) | g.X:148585823T>C,c.104A>G,p.D35G |
| IDS(NM_000202,iduronate 2-sulfatase,550aa) | g.X:148579679C>T,c.667G>A,p.V223I |
| IDS(NM_000202,iduronate 2-sulfatase,550aa) | g.X:148578002C>T,c.754G>A,p.D252N |
| IDS(NM_000202,iduronate 2-sulfatase,550aa) | g.X:148577975G>C,c.781C>G,p.P261A |
| IDS(NM_000202,iduronate 2-sulfatase,550aa) | g.X:148568477C>T,c.1159G>A,p.A387T |
| IDS(NM_000202,iduronate 2-sulfatase,550aa) | g.X:148564440T>C,c.1490A>G,p.Y497C |
| IDS(NM_000202,iduronate 2-sulfatase,550aa) | g.X:148564431G>A,c.1499C>T,p.T500I |
| IDO2(NM_194294,indoleamine 2,3-dioxygenase 2,420aa) | g.8:39873053G>A,c.1195G>A,p.A399T |
| IDO2(NM_194294,indoleamine 2,3-dioxygenase 2,420aa) | g.8:39872935T>A,c.1077T>A,p.Y359X |
| IDO2(NM_194294,indoleamine 2,3-dioxygenase 2,420aa) | g.8:39862893T>A,c.754T>A,p.S252T |
| IDO2(NM_194294,indoleamine 2,3-dioxygenase 2,420aa) | g.8:39862881C>T,c.742C>T,p.R248W |