| 基因名 | 突变 |
|---|---|
| ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) | g.21:46308800C>T,c.1888G>A,p.E630K |
| ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) | g.21:46308755C>T,c.1933G>A,p.A645T |
| ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) | g.21:46308754G>A,c.1934C>T,p.A645V |
| ITGB1(NM_002211,integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12),798aa) | g.10:33200939T>C,c.1583A>G,p.N528S |
| ITGB1(NM_002211,integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12),798aa) | g.10:33199344C>A,c.1971G>T,p.K657N |
| ITGB1BP2(NM_012278,integrin beta 1 binding protein (melusin) 2,347aa) | g.X:70523328C>T,c.430C>T,p.R144W |
| ITGB1BP2(NM_012278,integrin beta 1 binding protein (melusin) 2,347aa) | g.X:70521693C>T,c.37C>T,p.H13Y |
| ITGB1BP1(NM_004763,integrin beta 1 binding protein 1,200aa) | g.2:9547660G>A,c.449C>T,p.A150V |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31391887C>T,c.3218C>T,p.T1073M |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31391863C>T,c.3194C>T,p.S1065L |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31391120T>C,c.2911T>C,p.F971L |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31388179G>C,c.2568G>C,p.Q856H |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31384697G>A,c.2494G>A,p.V832M |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31383104C>T,c.2159C>T,p.P720L |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31383103C>G,c.2158C>G,p.P720A |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31383056G>A,c.2111G>A,p.R704Q |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31382795G>A,c.1982G>A,p.R661H |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31382513C>T,c.1819C>T,p.R607W |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31382492G>A,c.1798G>A,p.V600M |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31374675A>G,c.1690A>G,p.I564V |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31374624G>A,c.1639G>A,p.E547K |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31374535C>G,c.1550C>G,p.P517R |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31374256A>C,c.1360A>C,p.I454L |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31373985G>C,c.1270G>C,p.A424P |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31371674G>A,c.751G>A,p.A251T |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31371096C>T,c.506C>T,p.T169M |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31371083C>T,c.493C>T,p.R165C |
| ITGAX(NM_000887,integrin, alpha X (complement component 3 receptor 4 subunit),1163aa) | g.16:31367998C>A,c.196C>A,p.L66I |