| 基因名 | 突变 |
|---|---|
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124664874T>C,c.293A>G,p.H98R |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124664873_124664874AT>GC,c.293_294AT>GC,p.D98G |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124664860T>C,c.307A>G,p.N103D |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124664836C>T,c.331G>A,p.A111T |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124664726G>C,c.441C>G,p.S147R |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124664368C>T,c.799G>A,p.V267I |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124664228C>G,c.939G>C,p.Q313H |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124664206G>A,c.961C>T,p.R321W |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124664167T>C,c.1000A>G,p.I334V |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124664130C>T,c.1037G>A,p.R346K |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124664113T>A,c.1054A>T,p.N352Y |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124664065G>A,c.1102C>T,p.P368S |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124664049C>T,c.1118G>A,p.R373H |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124664002C>T,c.1165G>A,p.G389R |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124663987C>G,c.1180G>C,p.G394R |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124663933C>T,c.1234G>A,p.E412K |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124659166C>T,c.1439G>A,p.R480Q |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124658214C>T,c.1511G>A,p.C504Y |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124658203T>C,c.1522A>G,p.K508E |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124658154T>C,c.1571A>G,p.Y524C |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124658152C>T,c.1573G>A,p.V525M |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124658104C>T,c.1621G>A,p.A541T |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124658080C>T,c.1645G>A,p.E549K |
| KLHL36(NM_024731,kelch-like family member 36,616aa) | g.16:84695555del,c.1667del,p.556fs |
| KLHL36(NM_024731,kelch-like family member 36,616aa) | g.16:84695473G>A,c.1585G>A,p.V529M |
| KLHL36(NM_024731,kelch-like family member 36,616aa) | g.16:84695434G>A,c.1546G>A,p.V516M |
| KLHL36(NM_024731,kelch-like family member 36,616aa) | g.16:84691434G>A,c.1021G>A,p.A341T |
| KLHL36(NM_024731,kelch-like family member 36,616aa) | g.16:84691371G>A,c.958G>A,p.A320T |