| 基因名 | 突变 |
|---|---|
| XIRP2(NM_152381,xin actin-binding repeat containing 2,3549aa) | g.2:168099401G>A,c.1499G>A,p.R500H |
| XIRP2(NM_152381,xin actin-binding repeat containing 2,3549aa) | g.2:168099316T>C,c.1414T>C,p.S472P |
| XIRP2(NM_152381,xin actin-binding repeat containing 2,3549aa) | g.2:168096408A>T,c.902A>T,p.Q301L |
| XIRP2(NM_152381,xin actin-binding repeat containing 2,3549aa) | g.2:168074745G>A,c.793G>A,p.E265K |
| XIRP2(NM_152381,xin actin-binding repeat containing 2,3549aa) | g.2:167992561G>A,c.551G>A,p.R184H |
| XIRP2(NM_152381,xin actin-binding repeat containing 2,3549aa) | g.2:167992482G>A,c.472G>A,p.E158K |
| XIRP2(NM_152381,xin actin-binding repeat containing 2,3549aa) | g.2:167992477A>T,c.467A>T,p.Q156L |
| XIRP2(NM_152381,xin actin-binding repeat containing 2,3549aa) | g.2:167992429T>C,c.419T>C,p.I140T |
| XIRP2(NM_152381,xin actin-binding repeat containing 2,3549aa) | g.2:167760002A>G,c.10A>G,p.M4V |
| XIRP2(NM_152381,xin actin-binding repeat containing 2,3549aa) | g.2:167759994T>C,c.2T>C,p.M1T |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39230912C>T,c.25G>A,p.A9T |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39230585C>T,c.352G>A,p.V118M |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39230502C>A,c.435G>T,p.R145S |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39230371T>C,c.566A>G,p.Q189R |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39230332C>T,c.605G>A,p.R202H |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39230321G>A,c.616C>T,p.R206C |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39230165G>A,c.772C>T,p.R258W |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39229900T>C,c.1037A>G,p.Q346R |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39229882C>T,c.1055G>A,p.R352Q |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39229879G>A,c.1058C>T,p.A353V |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39229802G>A,c.1135C>T,p.R379C |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39229781C>T,c.1156G>A,p.E386K |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39229340C>T,c.1597G>A,p.V533M |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39229298C>T,c.1639G>A,p.V547I |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39229253T>A,c.1684A>T,p.I562F |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39229196G>T,c.1741C>A,p.P581T |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39229172C>T,c.1765G>A,p.G589S |
| XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) | g.3:39229142C>T,c.1795G>A,p.E599K |