| 基因名 | 突变 |
|---|---|
| KIAA0513(NM_014732,KIAA0513,411aa) | g.16:85120284G>A,c.1045G>A,p.D349N |
| KIAA0513(NM_014732,KIAA0513,411aa) | g.16:85112058G>A,c.820G>A,p.A274T |
| KIAA0513(NM_014732,KIAA0513,411aa) | g.16:85111181A>C,c.725A>C,p.K242T |
| KIAA0513(NM_014732,KIAA0513,411aa) | g.16:85111060C>T,c.604C>T,p.R202W |
| KIAA0513(NM_014732,KIAA0513,411aa) | g.16:85100976G>A,c.299G>A,p.R100H |
| KIAA0513(NM_014732,KIAA0513,411aa) | g.16:85100888C>T,c.211C>T,p.R71C |
| KIAA0513(NM_014732,KIAA0513,411aa) | g.16:85100777G>A,c.100G>A,p.G34S |
| KIAA0513(NM_014732,KIAA0513,411aa) | g.16:85100714G>A,c.37G>A,p.D13N |
| KIAA0430(NM_001184998,KIAA0430,1742aa) | g.16:15733081C>T,c.10G>A,p.G4R |
| KIAA0430(NM_001184998,KIAA0430,1742aa) | g.16:15729914T>C,c.430A>G,p.I144V |
| KIAA0430(NM_001184998,KIAA0430,1742aa) | g.16:15729838A>G,c.506T>C,p.L169S |
| KIAA0430(NM_001184998,KIAA0430,1742aa) | g.16:15727558T>G,c.1149A>C,p.K383N |
| KIAA0430(NM_001184998,KIAA0430,1742aa) | g.16:15727472A>C,c.1233+2T>G,p.411Donor |
| KIAA0430(NM_001184998,KIAA0430,1742aa) | g.16:15725337T>C,c.1252A>G,p.N418D |
| KIAA0430(NM_001184998,KIAA0430,1742aa) | g.16:15725336T>C,c.1253A>G,p.N418S |
| KIAA0430(NM_001184998,KIAA0430,1742aa) | g.16:15725238T>C,c.1351A>G,p.T451A |
| KIAA0430(NM_001184998,KIAA0430,1742aa) | g.16:15719528T>C,c.1651A>G,p.I551V |
| KIAA0430(NM_001184998,KIAA0430,1742aa) | g.16:15718946C>T,c.2035G>A,p.G679S |
| KIAA0430(NM_001184998,KIAA0430,1742aa) | g.16:15715636C>G,c.2593G>C,p.V865L |
| KIAA0430(NM_001184998,KIAA0430,1742aa) | g.16:15704915A>G,c.3668T>C,p.I1223T |
| KIAA0430(NM_001184998,KIAA0430,1742aa) | g.16:15702351T>A,c.3979A>T,p.I1327F |
| KIAA0430(NM_001184998,KIAA0430,1742aa) | g.16:15698245A>G,c.4193T>C,p.I1398T |
| KIAA0430(NM_001184998,KIAA0430,1742aa) | g.16:15695877C>T,c.4597G>A,p.V1533M |
| KIAA0430(NM_001184998,KIAA0430,1742aa) | g.16:15692836G>A,c.4859C>T,p.S1620F |
| KIAA0430(NM_001184998,KIAA0430,1742aa) | g.16:15690788A>G,c.4991T>C,p.M1664T |
| KIAA0408(NM_014702,KIAA0408,694aa) | g.6:127771452T>G,c.181A>C,p.S61R |
| KIAA0408(NM_014702,KIAA0408,694aa) | g.6:127771400A>G,c.233T>C,p.I78T |
| KIAA0408(NM_014702,KIAA0408,694aa) | g.6:127771328C>A,c.305G>T,p.R102I |