| 基因名 | 突变 |
|---|---|
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26959146T>C,c.3917A>G,p.N1306S |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26955355T>C,c.4522A>G,p.T1508A |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26955337G>A,c.4540C>T,p.P1514S |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26955330A>C,c.4547T>G,p.V1516G |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26948488C>T,c.4988G>A,p.R1663H |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26945877G>A,c.5755C>T,p.R1919C |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26943650T>C,c.6143A>G,p.K2048R |
| KIAA0040(NM_001162893,KIAA0040,99aa) | g.1:175130119T>C,c.31A>G,p.I11V |
| KIAA0040(NM_001162893,KIAA0040,99aa) | g.1:175129955G>T,c.195C>A,p.N65K |
| KIAA0020(NM_014878,KIAA0020,648aa) | g.9:2838470C>T,c.38G>A,p.S13N |
| KIAA0020(NM_014878,KIAA0020,648aa) | g.9:2837294C>T,c.190G>A,p.G64S |
| KIAA0020(NM_014878,KIAA0020,648aa) | g.9:2837280G>C,c.204C>G,p.F68L |
| KIAA0020(NM_014878,KIAA0020,648aa) | g.9:2834107G>C,c.364C>G,p.Q122E |
| KIAA0020(NM_014878,KIAA0020,648aa) | g.9:2834094A>G,c.377T>C,p.L126P |
| KIAA0020(NM_014878,KIAA0020,648aa) | g.9:2828765C>G,c.866G>C,p.R289P |
| KIAA0020(NM_014878,KIAA0020,648aa) | g.9:2828745C>G,c.886G>C,p.E296Q |
| KIAA0020(NM_014878,KIAA0020,648aa) | g.9:2828742C>A,c.889G>T,p.V297L |
| KIAA0020(NM_014878,KIAA0020,648aa) | g.9:2828685T>C,c.946A>G,p.M316V |
| KIAA0020(NM_014878,KIAA0020,648aa) | g.9:2824796C>T,c.1055G>A,p.R352H |
| KIAA0020(NM_014878,KIAA0020,648aa) | g.9:2812343G>C,c.1289C>G,p.P430R |
| KIAA0020(NM_014878,KIAA0020,648aa) | g.9:2812337A>G,c.1295T>C,p.I432T |
| KIAA0020(NM_014878,KIAA0020,648aa) | g.9:2811557C>T,c.1439G>A,p.R480Q |
| KIAA0020(NM_014878,KIAA0020,648aa) | g.9:2811432C>T,c.1564G>A,p.V522I |
| KIAA0020(NM_014878,KIAA0020,648aa) | g.9:2811418C>T,c.1578G>A,p.M526I |
| KIAA0020(NM_014878,KIAA0020,648aa) | g.9:2804365C>A,c.1913G>T,p.G638V |
| KHSRP(NM_003685,KH-type splicing regulatory protein,711aa) | g.19:6422423C>A,c.274G>T,p.A92S |
| KHNYN(NM_015299,KH and NYN domain containing,678aa) | g.14:24901687G>T,c.1220G>T,p.G407V |
| KHNYN(NM_015299,KH and NYN domain containing,678aa) | g.14:24901276G>T,c.809G>T,p.W270L |