| 基因名 | 突变 |
|---|---|
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18368334G>A,c.3760C>T,p.R1254C |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18368186G>A,c.3908C>T,p.A1303V |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18368181T>A,c.3913A>T,p.T1305S |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18368108A>G,c.3986T>C,p.I1329T |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18368076G>A,c.4018C>T,p.R1340W |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18368016G>A,c.4078C>T,p.R1360W |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18367995T>A,c.4099A>T,p.I1367F |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25573478A>G,c.5063A>G,p.K1688R |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25573409G>A,c.4994G>A,p.R1665H |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25570352G>A,c.4795G>A,p.V1599M |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25570332G>A,c.4775G>A,p.R1592K |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25570293C>T,c.4736C>T,p.T1579M |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25437155G>A,c.4058G>A,p.R1353Q |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25436765G>A,c.3668G>A,p.R1223K |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25435868C>T,c.2771C>T,p.P924L |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25435550C>T,c.2453C>T,p.P818L |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25435505G>A,c.2408G>A,p.R803Q |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25435328A>G,c.2231A>G,p.H744R |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25435028G>T,c.1931G>T,p.R644L |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25428640T>C,c.1606T>C,p.F536L |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25428595A>C,c.1561A>C,p.S521R |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25425282A>G,c.1316A>G,p.K439R |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25424601C>G,c.635C>G,p.A212G |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25424579C>A,c.613C>A,p.P205T |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25424391G>A,c.425G>A,p.S142N |
| KIAA1671(NM_001145206,KIAA1671,1806aa) | g.22:25424330G>A,c.364G>A,p.E122K |
| KIAA1644(NM_001099294,KIAA1644,199aa) | g.22:44692612G>A,c.221C>T,p.T74M |
| KIAA1644(NM_001099294,KIAA1644,199aa) | g.22:44681531C>T,c.376G>A,p.D126N |