| 基因名 | 突变 |
|---|---|
| MATN4(NM_003833,matrilin 4,581aa) | g.20:43926984T>G,c.1252A>C,p.M418L |
| MATN4(NM_003833,matrilin 4,581aa) | g.20:43926660G>A,c.1477C>T,p.R493C |
| MATN4(NM_003833,matrilin 4,581aa) | g.20:43926614G>A,c.1523C>T,p.P508L |
| MATN4(NM_003833,matrilin 4,581aa) | g.20:43926594G>T,c.1543C>A,p.H515N |
| MATN4(NM_003833,matrilin 4,581aa) | g.20:43926573C>T,c.1564G>A,p.G522S |
| MATN4(NM_003833,matrilin 4,581aa) | g.20:43922637C>T,c.1598G>A,p.G533E |
| MATN4(NM_003833,matrilin 4,581aa) | g.20:43922428G>T,c.1725C>A,p.N575K |
| MATN3(NM_002381,matrilin 3,486aa) | g.2:20212206A>C,c.187T>G,p.S63A |
| MATN3(NM_002381,matrilin 3,486aa) | g.2:20212184C>T,c.209G>A,p.R70H |
| MATN3(NM_002381,matrilin 3,486aa) | g.2:20205624C>T,c.671G>A,p.R224Q |
| MATN3(NM_002381,matrilin 3,486aa) | g.2:20205612G>A,c.683C>T,p.A228V |
| MATN3(NM_002381,matrilin 3,486aa) | g.2:20205541C>T,c.754G>A,p.E252K |
| MATN3(NM_002381,matrilin 3,486aa) | g.2:20202930G>A,c.908C>T,p.T303M |
| MATN3(NM_002381,matrilin 3,486aa) | g.2:20197018G>A,c.1171C>T,p.R391C |
| MATN3(NM_002381,matrilin 3,486aa) | g.2:20197017C>T,c.1172G>A,p.R391H |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:99045866G>A,c.2794G>A,p.V932I |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:99045792G>A,c.2720G>A,p.S907N |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:99045365C>T,c.2677C>T,p.R893W |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:99045344T>C,c.2656T>C,p.F886L |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:99044528C>T,c.2564C>T,p.T855M |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:99039758C>G,c.2057C>G,p.T686R |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:99033441G>A,c.1828G>A,p.V610I |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:99030336G>A,c.1811G>A,p.R604H |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:99030335C>T,c.1810C>T,p.R604C |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:99030320G>A,c.1795G>A,p.A599T |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:99028867G>A,c.1673G>A,p.R558H |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:99028849T>C,c.1655T>C,p.F552S |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:99019806G>A,c.1550G>A,p.R517H |