| 基因名 | 突变 |
|---|---|
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36869923del,c.610del,p.204fs |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36869769C>T,c.764G>A,p.R255Q |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36869590G>A,c.943C>T,p.P315S |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36869516C>A,c.1017G>T,p.K339N |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36869406A>G,c.1127T>C,p.V376A |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36869005G>A,c.1528C>T,p.R510X |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36868106G>A,c.1571C>T,p.T524I |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36856616G>A,c.1898C>T,p.A633V |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36854104A>G,c.2132T>C,p.F711S |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36850938C>T,c.2330G>A,p.G777D |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36848063C>T,c.2525G>A,p.R842H |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36846717G>T,c.2608C>A,p.P870T |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36845738C>T,c.2818G>A,p.E940K |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36845698G>A,c.2858C>T,p.T953M |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36842037G>A,c.3010C>T,p.R1004X |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36841935G>A,c.3112C>T,p.R1038W |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36841914G>A,c.3133C>T,p.R1045W |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36841847C>T,c.3200G>A,p.R1067H |
| KIAA1755(NM_001029864,KIAA1755,1200aa) | g.20:36841839G>A,c.3208C>T,p.R1070X |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1922383C>T,c.13G>A,p.G5S |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1920340G>A,c.140C>T,p.P47L |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1916895G>A,c.430C>T,p.R144C |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1916894C>T,c.431G>A,p.R144H |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1905575C>T,c.563G>A,p.R188H |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1905548C>T,c.590G>A,p.R197Q |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1905485C>T,c.653G>A,p.R218Q |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1904452T>C,c.709A>G,p.R237G |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1904401G>A,c.760C>T,p.R254W |