| 基因名 | 突变 |
|---|---|
| ITLN1(NM_017625,intelectin 1 (galactofuranose binding),313aa) | g.1:160846462A>G,c.934T>C,p.Y312H |
| ITLN1(NM_017625,intelectin 1 (galactofuranose binding),313aa) | g.1:160846458C>G,c.938G>C,p.R313P |
| ITK(NM_005546,IL2-inducible T-cell kinase,620aa) | g.5:156679654G>A,c.1829G>A,p.R610H |
| ITK(NM_005546,IL2-inducible T-cell kinase,620aa) | g.5:156675985G>A,c.1759G>A,p.V587I |
| ITK(NM_005546,IL2-inducible T-cell kinase,620aa) | g.5:156675967C>T,c.1741C>T,p.R581W |
| ITK(NM_005546,IL2-inducible T-cell kinase,620aa) | g.5:156671390C>T,c.1351C>T,p.R451W |
| ITK(NM_005546,IL2-inducible T-cell kinase,620aa) | g.5:156671382G>A,c.1343G>A,p.R448H |
| ITK(NM_005546,IL2-inducible T-cell kinase,620aa) | g.5:156667160G>C,c.940G>C,p.D314H |
| ITIH6(NM_198510,inter-alpha-trypsin inhibitor heavy chain family, member 6,1313aa) | g.X:54817449A>G,c.437T>C,p.L146P |
| ITIH6(NM_198510,inter-alpha-trypsin inhibitor heavy chain family, member 6,1313aa) | g.X:54800542C>T,c.875G>A,p.S292N |
| ITIH6(NM_198510,inter-alpha-trypsin inhibitor heavy chain family, member 6,1313aa) | g.X:54785348C>G,c.1159G>C,p.G387R |
| ITIH6(NM_198510,inter-alpha-trypsin inhibitor heavy chain family, member 6,1313aa) | g.X:54785287G>A,c.1220C>T,p.P407L |
| ITIH6(NM_198510,inter-alpha-trypsin inhibitor heavy chain family, member 6,1313aa) | g.X:54784822C>T,c.1685G>A,p.R562H |
| ITIH6(NM_198510,inter-alpha-trypsin inhibitor heavy chain family, member 6,1313aa) | g.X:54784246G>A,c.2261C>T,p.T754M |
| ITIH6(NM_198510,inter-alpha-trypsin inhibitor heavy chain family, member 6,1313aa) | g.X:54784045G>A,c.2462C>T,p.P821L |
| ITIH6(NM_198510,inter-alpha-trypsin inhibitor heavy chain family, member 6,1313aa) | g.X:54783969C>A,c.2538G>T,p.L846F |
| ITIH6(NM_198510,inter-alpha-trypsin inhibitor heavy chain family, member 6,1313aa) | g.X:54783785T>G,c.2722A>C,p.I908L |
| ITIH6(NM_198510,inter-alpha-trypsin inhibitor heavy chain family, member 6,1313aa) | g.X:54783781G>A,c.2726C>T,p.S909L |
| ITIH6(NM_198510,inter-alpha-trypsin inhibitor heavy chain family, member 6,1313aa) | g.X:54781530C>G,c.3122G>C,p.W1041S |
| ITIH6(NM_198510,inter-alpha-trypsin inhibitor heavy chain family, member 6,1313aa) | g.X:54780361A>G,c.3238+2T>C,p.1080Donor |
| ITIH6(NM_198510,inter-alpha-trypsin inhibitor heavy chain family, member 6,1313aa) | g.X:54780192C>T,c.3244G>A,p.G1082R |
| ITIH6(NM_198510,inter-alpha-trypsin inhibitor heavy chain family, member 6,1313aa) | g.X:54777784C>T,c.3382G>A,p.A1128T |
| ITIH6(NM_198510,inter-alpha-trypsin inhibitor heavy chain family, member 6,1313aa) | g.X:54776407C>T,c.3863G>A,p.R1288H |
| ITIH5(NM_030569,inter-alpha-trypsin inhibitor heavy chain family, member 5,942aa) | g.10:7684008T>C,c.181A>G,p.I61V |
| ITIH5(NM_030569,inter-alpha-trypsin inhibitor heavy chain family, member 5,942aa) | g.10:7684001C>T,c.188G>A,p.R63H |
| ITIH5(NM_030569,inter-alpha-trypsin inhibitor heavy chain family, member 5,942aa) | g.10:7659233G>A,c.665C>T,p.P222L |
| ITIH5(NM_030569,inter-alpha-trypsin inhibitor heavy chain family, member 5,942aa) | g.10:7627984G>A,c.988C>T,p.R330C |
| ITIH5(NM_030569,inter-alpha-trypsin inhibitor heavy chain family, member 5,942aa) | g.10:7627957G>A,c.1015C>T,p.R339W |