| 基因名 | 突变 |
|---|---|
| KIAA1731(NM_033395,KIAA1731,2601aa) | g.11:93430158C>A,c.2080C>A,p.R694S |
| KIAA1731(NM_033395,KIAA1731,2601aa) | g.11:93430027G>A,c.1949G>A,p.R650K |
| KIAA1731(NM_033395,KIAA1731,2601aa) | g.11:93429882C>G,c.1804C>G,p.Q602E |
| KIAA1731(NM_033395,KIAA1731,2601aa) | g.11:93425159C>A,c.1496C>A,p.A499E |
| KIAA1731(NM_033395,KIAA1731,2601aa) | g.11:93424864C>G,c.1352C>G,p.T451R |
| KIAA1731(NM_033395,KIAA1731,2601aa) | g.11:93416836C>T,c.877C>T,p.R293C |
| KIAA1731(NM_033395,KIAA1731,2601aa) | g.11:93408831G>A,c.623G>A,p.R208Q |
| KIAA1731(NM_033395,KIAA1731,2601aa) | g.11:93408743G>A,c.535G>A,p.E179K |
| KIAA1731(NM_033395,KIAA1731,2601aa) | g.11:93402856C>T,c.448C>T,p.R150X |
| KIAA1715(NM_030650,KIAA1715,428aa) | g.2:176857110G>T,c.106C>A,p.Q36K |
| KIAA1715(NM_030650,KIAA1715,428aa) | g.2:176829141G>A,c.452C>T,p.P151L |
| KIAA1715(NM_030650,KIAA1715,428aa) | g.2:176829117G>C,c.476C>G,p.T159S |
| KIAA1715(NM_030650,KIAA1715,428aa) | g.2:176804350T>C,c.742A>G,p.I248V |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18378321G>A,c.29C>T,p.S10F |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18378255G>A,c.95C>T,p.A32V |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18378219A>G,c.131T>C,p.L44P |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18378201G>A,c.149C>T,p.A50V |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18378181C>T,c.169G>A,p.E57K |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18378174A>T,c.176T>A,p.L59H |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18377799G>A,c.551C>T,p.P184L |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18377791T>C,c.559A>G,p.M187V |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18377761A>G,c.589T>C,p.C197R |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18377709G>A,c.641C>T,p.P214L |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18377647G>C,c.703C>G,p.L235V |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18377496C>G,c.854G>C,p.S285T |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18377283G>A,c.1067C>T,p.A356V |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18377274A>G,c.1076T>C,p.M359T |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18377104G>A,c.1246C>T,p.R416W |