| 基因名 | 突变 |
|---|---|
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52822314A>G,c.2072A>G,p.N691S |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52821210C>T,c.1895C>T,p.P632L |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52821041C>G,c.1814C>G,p.P605R |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52821011A>G,c.1784A>G,p.Q595R |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52820981A>T,c.1754A>T,p.E585V |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52820450G>A,c.1733G>A,p.R578Q |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52820371C>T,c.1654C>T,p.R552X |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52819084C>T,c.1432C>T,p.P478S |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52818419G>C,c.1333G>C,p.E445Q |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52818353G>A,c.1267G>A,p.A423T |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52818347C>T,c.1261C>T,p.R421C |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52817327C>G,c.1197C>G,p.I399M |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52817256C>T,c.1126C>T,p.R376W |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52817142G>A,c.1099+1G>A,p.367Donor |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52817130C>A,c.1088C>A,p.S363Y |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52816986T>A,c.944T>A,p.L315H |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52815972G>A,c.704G>A,p.R235H |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52812960C>T,c.308C>T,p.T103I |
| ITIH1(NM_002215,inter-alpha-trypsin inhibitor heavy chain 1,911aa) | g.3:52811746G>A,c.115G>A,p.E39K |
| ITGBL1(NM_001271754,integrin, beta-like 1 (with EGF-like repeat domains),353aa) | g.13:102359186A>G,c.790A>G,p.N264D |
| ITGBL1(NM_001271754,integrin, beta-like 1 (with EGF-like repeat domains),353aa) | g.13:102359175C>T,c.779C>T,p.P260L |
| ITGBL1(NM_001271754,integrin, beta-like 1 (with EGF-like repeat domains),353aa) | g.13:102250542C>T,c.485C>T,p.A162V |
| ITGBL1(NM_001271754,integrin, beta-like 1 (with EGF-like repeat domains),353aa) | g.13:102235608C>T,c.347C>T,p.P116L |
| ITGBL1(NM_001271754,integrin, beta-like 1 (with EGF-like repeat domains),353aa) | g.13:102220193G>T,c.37G>T,p.A13S |
| ITGB8(NM_002214,integrin, beta 8,769aa) | g.7:20449362T>G,c.2148T>G,p.I716M |
| ITGB8(NM_002214,integrin, beta 8,769aa) | g.7:20449246T>C,c.2032T>C,p.S678P |
| ITGB8(NM_002214,integrin, beta 8,769aa) | g.7:20441504G>A,c.1442G>A,p.C481Y |
| ITGB8(NM_002214,integrin, beta 8,769aa) | g.7:20441397A>C,c.1335A>C,p.K445N |