| 基因名 | 突变 |
|---|---|
| MATN2(NM_002380,matrilin 2,956aa) | g.8:99019790G>C,c.1534G>C,p.E512Q |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:99015990C>A,c.1306C>A,p.P436T |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:98991221A>G,c.1066A>G,p.K356E |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:98991158T>C,c.1003T>C,p.C335R |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:98973696G>A,c.896G>A,p.G299D |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:98954080G>C,c.788G>C,p.R263T |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:98943598C>T,c.560C>T,p.T187M |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:98943205C>T,c.167C>T,p.A56V |
| MATN2(NM_002380,matrilin 2,956aa) | g.8:98900410C>T,c.82C>T,p.R28C |
| MATN1(NM_002379,matrilin 1, cartilage matrix protein,496aa) | g.1:31196329G>A,c.70C>T,p.P24S |
| MATN1(NM_002379,matrilin 1, cartilage matrix protein,496aa) | g.1:31194539C>T,c.154G>A,p.V52I |
| MATN1(NM_002379,matrilin 1, cartilage matrix protein,496aa) | g.1:31194386C>A,c.307G>T,p.A103S |
| MATN1(NM_002379,matrilin 1, cartilage matrix protein,496aa) | g.1:31189745C>T,c.682G>A,p.A228T |
| MATN1(NM_002379,matrilin 1, cartilage matrix protein,496aa) | g.1:31189700C>T,c.727G>A,p.G243S |
| MATN1(NM_002379,matrilin 1, cartilage matrix protein,496aa) | g.1:31189645G>A,c.782C>T,p.T261I |
| MATN1(NM_002379,matrilin 1, cartilage matrix protein,496aa) | g.1:31188804G>A,c.1159C>T,p.R387W |
| MATN1(NM_002379,matrilin 1, cartilage matrix protein,496aa) | g.1:31188783C>G,c.1180G>C,p.D394H |
| MATN1(NM_002379,matrilin 1, cartilage matrix protein,496aa) | g.1:31187165G>A,c.1370C>T,p.P457L |
| MATK(NM_139355,megakaryocyte-associated tyrosine kinase,507aa) | g.19:3784374G>A,c.208C>T,p.R70C |
| MATK(NM_139355,megakaryocyte-associated tyrosine kinase,507aa) | g.19:3784373C>T,c.209G>A,p.R70H |
| MATK(NM_139355,megakaryocyte-associated tyrosine kinase,507aa) | g.19:3778219C>T,c.1486G>A,p.A496T |
| MAT2B(NM_182796,methionine adenosyltransferase II, beta,323aa) | g.5:162945269C>T,c.872C>T,p.T291I |
| MAT2B(NM_182796,methionine adenosyltransferase II, beta,323aa) | g.5:162943596T>C,c.566T>C,p.M189T |
| MAT2A(NM_005911,methionine adenosyltransferase II, alpha,395aa) | g.2:85769341A>G,c.613A>G,p.I205V |
| MAT1A(NM_000429,methionine adenosyltransferase I, alpha,395aa) | g.10:82036188C>T,c.712G>A,p.E238K |
| MAT1A(NM_000429,methionine adenosyltransferase I, alpha,395aa) | g.10:82034291G>A,c.1070C>T,p.P357L |
| MASTL(NM_001172303,microtubule associated serine/threonine kinase-like,879aa) | g.10:27475317G>A,c.2492G>A,p.R831H |
| MASTL(NM_001172303,microtubule associated serine/threonine kinase-like,879aa) | g.10:27462069C>T,c.2147C>T,p.S716L |