| 基因名 | 突变 |
|---|---|
| KLHL29(NM_052920,kelch-like family member 29,875aa) | g.2:23785133G>A,c.67G>A,p.V23I |
| KLHL28(NM_017658,kelch-like family member 28,571aa) | g.14:45415062C>T,c.70G>A,p.G24S |
| KLHL28(NM_017658,kelch-like family member 28,571aa) | g.14:45414464C>T,c.668G>A,p.S223N |
| KLHL28(NM_017658,kelch-like family member 28,571aa) | g.14:45414389C>T,c.743G>A,p.R248H |
| KLHL28(NM_017658,kelch-like family member 28,571aa) | g.14:45403699C>A,c.962G>T,p.R321L |
| KLHL28(NM_017658,kelch-like family member 28,571aa) | g.14:45403616T>C,c.1045A>G,p.I349V |
| KLHL28(NM_017658,kelch-like family member 28,571aa) | g.14:45403454C>T,c.1207G>A,p.V403I |
| KLHL28(NM_017658,kelch-like family member 28,571aa) | g.14:45400736C>T,c.1352G>A,p.R451H |
| KLHL28(NM_017658,kelch-like family member 28,571aa) | g.14:45400668C>T,c.1420G>A,p.V474M |
| KLHL28(NM_017658,kelch-like family member 28,571aa) | g.14:45400573C>A,c.1515G>T,p.Q505H |
| KLHL26(NM_018316,kelch-like family member 26,615aa) | g.19:18779799A>T,c.1592A>T,p.Y531F |
| KLHL26(NM_018316,kelch-like family member 26,615aa) | g.19:18779733G>T,c.1526G>T,p.R509L |
| KLHL26(NM_018316,kelch-like family member 26,615aa) | g.19:18779577C>T,c.1370C>T,p.A457V |
| KLHL26(NM_018316,kelch-like family member 26,615aa) | g.19:18778551G>A,c.344G>A,p.R115Q |
| KLHL25(NM_022480,kelch-like family member 25,589aa) | g.15:86312855C>T,c.187G>A,p.V63M |
| KLHL25(NM_022480,kelch-like family member 25,589aa) | g.15:86312846C>T,c.196G>A,p.A66T |
| KLHL25(NM_022480,kelch-like family member 25,589aa) | g.15:86312837G>A,c.205C>T,p.R69C |
| KLHL25(NM_022480,kelch-like family member 25,589aa) | g.15:86312804G>A,c.238C>T,p.R80W |
| KLHL25(NM_022480,kelch-like family member 25,589aa) | g.15:86312617T>C,c.425A>G,p.K142R |
| KLHL25(NM_022480,kelch-like family member 25,589aa) | g.15:86312342G>A,c.700C>T,p.R234C |
| KLHL25(NM_022480,kelch-like family member 25,589aa) | g.15:86312294C>T,c.748G>A,p.V250I |
| KLHL25(NM_022480,kelch-like family member 25,589aa) | g.15:86312273T>A,c.769A>T,p.M257L |
| KLHL25(NM_022480,kelch-like family member 25,589aa) | g.15:86312198C>T,c.844G>A,p.V282M |
| KLHL25(NM_022480,kelch-like family member 25,589aa) | g.15:86312075_86312076insG,c.966_967insC,p.322fs |
| KLHL25(NM_022480,kelch-like family member 25,589aa) | g.15:86312069C>T,c.973G>A,p.D325N |
| KLHL25(NM_022480,kelch-like family member 25,589aa) | g.15:86312054G>A,c.988C>T,p.R330W |
| KLHL25(NM_022480,kelch-like family member 25,589aa) | g.15:86311909C>T,c.1133G>A,p.R378H |
| KLHL25(NM_022480,kelch-like family member 25,589aa) | g.15:86311654T>C,c.1388A>G,p.Q463R |