| 基因名 | 突变 |
|---|---|
| ITGA10(NM_003637,integrin, alpha 10,1167aa) | g.1:145527980G>A,c.217G>A,p.V73I |
| ITFG3(NM_032039,integrin alpha FG-GAP repeat containing 3,552aa) | g.16:315008A>G,c.1646A>G,p.Q549R |
| ITFG3(NM_032039,integrin alpha FG-GAP repeat containing 3,552aa) | g.16:315001C>T,c.1639C>T,p.R547W |
| ITFG3(NM_032039,integrin alpha FG-GAP repeat containing 3,552aa) | g.16:314942G>A,c.1580G>A,p.R527H |
| ITFG3(NM_032039,integrin alpha FG-GAP repeat containing 3,552aa) | g.16:314881G>A,c.1519G>A,p.G507S |
| ITFG3(NM_032039,integrin alpha FG-GAP repeat containing 3,552aa) | g.16:314861C>T,c.1499C>T,p.P500L |
| ITFG3(NM_032039,integrin alpha FG-GAP repeat containing 3,552aa) | g.16:314664C>T,c.1396C>T,p.R466C |
| ITFG3(NM_032039,integrin alpha FG-GAP repeat containing 3,552aa) | g.16:314662C>T,c.1394C>T,p.P465L |
| ITFG3(NM_032039,integrin alpha FG-GAP repeat containing 3,552aa) | g.16:314165G>A,c.1339G>A,p.E447K |
| ITFG3(NM_032039,integrin alpha FG-GAP repeat containing 3,552aa) | g.16:313383A>G,c.1094A>G,p.K365R |
| ITFG3(NM_032039,integrin alpha FG-GAP repeat containing 3,552aa) | g.16:313365C>T,c.1076C>T,p.T359M |
| ITFG3(NM_032039,integrin alpha FG-GAP repeat containing 3,552aa) | g.16:311506G>A,c.701G>A,p.R234Q |
| ITFG3(NM_032039,integrin alpha FG-GAP repeat containing 3,552aa) | g.16:309998C>T,c.416C>T,p.A139V |
| ITFG3(NM_032039,integrin alpha FG-GAP repeat containing 3,552aa) | g.16:309524G>A,c.311G>A,p.R104K |
| ITFG3(NM_032039,integrin alpha FG-GAP repeat containing 3,552aa) | g.16:309491A>C,c.278A>C,p.D93A |
| ITFG2(NM_018463,integrin alpha FG-GAP repeat containing 2,447aa) | g.12:2933298C>T,c.1283C>T,p.T428M |
| ITFG2(NM_018463,integrin alpha FG-GAP repeat containing 2,447aa) | g.12:2930435C>T,c.703C>T,p.P235S |
| ITFG1(NM_030790,integrin alpha FG-GAP repeat containing 1,612aa) | g.16:47494860C>A,c.97G>T,p.A33S |
| ITFG1(NM_030790,integrin alpha FG-GAP repeat containing 1,612aa) | g.16:47488059C>T,c.292G>A,p.A98T |
| ITFG1(NM_030790,integrin alpha FG-GAP repeat containing 1,612aa) | g.16:47196468G>A,c.1561C>T,p.R521C |
| ITCH(NM_001257137,itchy E3 ubiquitin protein ligase,903aa) | g.20:33067589G>T,c.1936G>T,p.A646S |
| ITCH(NM_001257137,itchy E3 ubiquitin protein ligase,903aa) | g.20:33028026C>T,c.869C>T,p.P290L |
| ITCH(NM_001257137,itchy E3 ubiquitin protein ligase,903aa) | g.20:33027996G>T,c.839G>T,p.S280I |
| ITCH(NM_001257137,itchy E3 ubiquitin protein ligase,903aa) | g.20:33027969A>G,c.812A>G,p.N271S |
| ITCH(NM_001257137,itchy E3 ubiquitin protein ligase,903aa) | g.20:33026298G>C,c.664G>C,p.D222H |
| ITCH(NM_001257137,itchy E3 ubiquitin protein ligase,903aa) | g.20:33001677G>A,c.467G>A,p.C156Y |
| ITCH(NM_001257137,itchy E3 ubiquitin protein ligase,903aa) | g.20:33001619A>G,c.409A>G,p.I137V |
| ITCH(NM_001257137,itchy E3 ubiquitin protein ligase,903aa) | g.20:33001595A>G,c.385A>G,p.T129A |