| 基因名 | 突变 |
|---|---|
| HARBI1(NM_173811,harbinger transposase derived 1,349aa) | g.11:46625388G>A,c.742C>T,p.R248C |
| HARBI1(NM_173811,harbinger transposase derived 1,349aa) | g.11:46625316G>A,c.814C>T,p.R272C |
| HARBI1(NM_173811,harbinger transposase derived 1,349aa) | g.11:46625268A>G,c.862T>C,p.S288P |
| HARBI1(NM_173811,harbinger transposase derived 1,349aa) | g.11:46625157C>T,c.973G>A,p.E325K |
| HAPLN4(NM_023002,hyaluronan and proteoglycan link protein 4,402aa) | g.19:19368999T>C,c.836A>G,p.K279R |
| HAPLN3(NM_178232,hyaluronan and proteoglycan link protein 3,360aa) | g.15:89424839G>A,c.242C>T,p.P81L |
| HAPLN3(NM_178232,hyaluronan and proteoglycan link protein 3,360aa) | g.15:89424828G>A,c.253C>T,p.R85C |
| HAPLN3(NM_178232,hyaluronan and proteoglycan link protein 3,360aa) | g.15:89424765C>T,c.316G>A,p.G106R |
| HAPLN3(NM_178232,hyaluronan and proteoglycan link protein 3,360aa) | g.15:89424612C>T,c.469G>A,p.G157S |
| HAPLN3(NM_178232,hyaluronan and proteoglycan link protein 3,360aa) | g.15:89424608A>T,c.473T>A,p.L158Q |
| HAPLN3(NM_178232,hyaluronan and proteoglycan link protein 3,360aa) | g.15:89422386C>T,c.608G>A,p.R203Q |
| HAPLN3(NM_178232,hyaluronan and proteoglycan link protein 3,360aa) | g.15:89422320G>A,c.674C>T,p.P225L |
| HAPLN3(NM_178232,hyaluronan and proteoglycan link protein 3,360aa) | g.15:89421266G>A,c.1018C>T,p.R340X |
| HAPLN2(NM_021817,hyaluronan and proteoglycan link protein 2,340aa) | g.1:156593928G>T,c.415G>T,p.V139L |
| HAPLN1(NM_001884,hyaluronan and proteoglycan link protein 1,354aa) | g.5:82948542T>C,c.202A>G,p.T68A |
| HAPLN1(NM_001884,hyaluronan and proteoglycan link protein 1,354aa) | g.5:82937561A>C,c.819T>G,p.D273E |
| HAPLN1(NM_001884,hyaluronan and proteoglycan link protein 1,354aa) | g.5:82937538T>C,c.842A>G,p.N281S |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39890876T>C,c.11A>G,p.K4R |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39890813C>T,c.74G>A,p.C25Y |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39890715A>T,c.172T>A,p.S58T |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39890576C>T,c.311G>A,p.W104X |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39890541G>A,c.346C>T,p.R116W |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39888622C>T,c.574G>A,p.V192I |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39888355G>A,c.730C>T,p.H244Y |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39888318T>G,c.767A>C,p.Y256S |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39884583G>A,c.1070C>T,p.S357L |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39884065C>A,c.1224G>T,p.L408F |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39883350G>A,c.1322C>T,p.T441M |