| 基因名 | 突变 |
|---|---|
| HAS2(NM_005328,hyaluronan synthase 2,552aa) | g.8:122640973C>T,c.608G>A,p.R203Q |
| HAS1(NM_001523,hyaluronan synthase 1,578aa) | g.19:52223121A>G,c.40T>C,p.C14R |
| HAS1(NM_001523,hyaluronan synthase 1,578aa) | g.19:52223048C>A,c.113G>T,p.W38L |
| HAS1(NM_001523,hyaluronan synthase 1,578aa) | g.19:52222886G>A,c.275C>T,p.A92V |
| HAS1(NM_001523,hyaluronan synthase 1,578aa) | g.19:52220394C>T,c.755G>A,p.R252Q |
| HAS1(NM_001523,hyaluronan synthase 1,578aa) | g.19:52220351G>A,c.798C>T,p.D266D |
| HAS1(NM_001523,hyaluronan synthase 1,578aa) | g.19:52217231G>A,c.1186C>T,p.R396W |
| HAS1(NM_001523,hyaluronan synthase 1,578aa) | g.19:52217174C>T,c.1243G>A,p.V415M |
| HAS1(NM_001523,hyaluronan synthase 1,578aa) | g.19:52217128G>A,c.1289C>T,p.A430V |
| HAS1(NM_001523,hyaluronan synthase 1,578aa) | g.19:52217048G>A,c.1369C>T,p.R457C |
| HAS1(NM_001523,hyaluronan synthase 1,578aa) | g.19:52217045T>G,c.1372A>C,p.M458L |
| HAS1(NM_001523,hyaluronan synthase 1,578aa) | g.19:52216874C>A,c.1543G>T,p.G515W |
| HARS(NM_002109,histidyl-tRNA synthetase,509aa) | g.5:140070876G>T,c.14C>A,p.A5E |
| HARS(NM_002109,histidyl-tRNA synthetase,509aa) | g.5:140070850G>T,c.40C>A,p.Q14K |
| HARS(NM_002109,histidyl-tRNA synthetase,509aa) | g.5:140057509C>T,c.614G>A,p.G205D |
| HARS(NM_002109,histidyl-tRNA synthetase,509aa) | g.5:140057507C>T,c.616G>A,p.D206N |
| HARS(NM_002109,histidyl-tRNA synthetase,509aa) | g.5:140057275G>A,c.694C>T,p.R232C |
| HARS(NM_002109,histidyl-tRNA synthetase,509aa) | g.5:140056256C>T,c.1177G>A,p.V393M |
| HARS(NM_002109,histidyl-tRNA synthetase,509aa) | g.5:140054717G>A,c.1196C>T,p.A399V |
| HARS(NM_002109,histidyl-tRNA synthetase,509aa) | g.5:140054277G>A,c.1445C>T,p.T482M |
| HARS2(NM_012208,histidyl-tRNA synthetase 2, mitochondrial,506aa) | g.5:140078131G>T,c.1515G>T,p.E505D |
| HARS2(NM_012208,histidyl-tRNA synthetase 2, mitochondrial,506aa) | g.5:140076849C>T,c.1055C>T,p.P352L |
| HARS2(NM_012208,histidyl-tRNA synthetase 2, mitochondrial,506aa) | g.5:140071240C>G,c.7C>G,p.L3V |
| HARBI1(NM_173811,harbinger transposase derived 1,349aa) | g.11:46637769C>T,c.19G>A,p.V7M |
| HARBI1(NM_173811,harbinger transposase derived 1,349aa) | g.11:46637660C>T,c.128G>A,p.R43Q |
| HARBI1(NM_173811,harbinger transposase derived 1,349aa) | g.11:46637381T>C,c.407A>G,p.Y136C |
| HARBI1(NM_173811,harbinger transposase derived 1,349aa) | g.11:46637208G>A,c.580C>T,p.P194S |
| HARBI1(NM_173811,harbinger transposase derived 1,349aa) | g.11:46625439G>A,c.691C>T,p.R231X |