| 基因名 | 突变 |
|---|---|
| KLHL42(NM_020782,kelch-like family member 42,505aa) | g.12:27933751A>T,c.488A>T,p.K163M |
| KLHL41(NM_006063,kelch-like family member 41,606aa) | g.2:170382141C>T,c.1756C>T,p.R586C |
| KLHL41(NM_006063,kelch-like family member 41,606aa) | g.2:170382097A>G,c.1712A>G,p.Y571C |
| KLHL41(NM_006063,kelch-like family member 41,606aa) | g.2:170374735A>G,c.1412A>G,p.K471R |
| KLHL41(NM_006063,kelch-like family member 41,606aa) | g.2:170367151T>G,c.863T>G,p.L288R |
| KLHL41(NM_006063,kelch-like family member 41,606aa) | g.2:170367099G>A,c.811G>A,p.A271T |
| KLHL41(NM_006063,kelch-like family member 41,606aa) | g.2:170366940G>A,c.652G>A,p.V218M |
| KLHL41(NM_006063,kelch-like family member 41,606aa) | g.2:170366686G>A,c.398G>A,p.G133D |
| KLHL41(NM_006063,kelch-like family member 41,606aa) | g.2:170366623G>A,c.335G>A,p.R112H |
| KLHL41(NM_006063,kelch-like family member 41,606aa) | g.2:170366296C>T,c.8C>T,p.S3F |
| KLHL40(NM_152393,kelch-like family member 40,621aa) | g.3:42733468T>C,c.1849T>C,p.C617R |
| KLHL40(NM_152393,kelch-like family member 40,621aa) | g.3:42733420G>A,c.1801G>A,p.A601T |
| KLHL40(NM_152393,kelch-like family member 40,621aa) | g.3:42733381G>A,c.1762G>A,p.E588K |
| KLHL40(NM_152393,kelch-like family member 40,621aa) | g.3:42732481C>A,c.1738C>A,p.L580I |
| KLHL40(NM_152393,kelch-like family member 40,621aa) | g.3:42732379G>C,c.1636G>C,p.E546Q |
| KLHL40(NM_152393,kelch-like family member 40,621aa) | g.3:42730434G>A,c.1495G>A,p.A499T |
| KLHL40(NM_152393,kelch-like family member 40,621aa) | g.3:42730416C>G,c.1477C>G,p.L493V |
| KLHL40(NM_152393,kelch-like family member 40,621aa) | g.3:42729754G>A,c.1273G>A,p.G425S |
| KLHL40(NM_152393,kelch-like family member 40,621aa) | g.3:42728144A>G,c.1034A>G,p.N345S |
| KLHL40(NM_152393,kelch-like family member 40,621aa) | g.3:42727982A>C,c.872A>C,p.K291T |
| KLHL40(NM_152393,kelch-like family member 40,621aa) | g.3:42727387G>C,c.277G>C,p.E93Q |
| KLHL40(NM_152393,kelch-like family member 40,621aa) | g.3:42727307C>G,c.197C>G,p.P66R |
| KLHL3(NM_001257194,kelch-like family member 3,555aa) | g.5:137027985T>A,c.419A>T,p.N140I |
| KLHL3(NM_001257194,kelch-like family member 3,555aa) | g.5:136961504T>C,c.1577A>G,p.N526S |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124665160C>T,c.7G>A,p.E3K |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124665124C>T,c.43G>A,p.D15N |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124664965G>A,c.202C>T,p.R68W |
| KLHL38(NM_001081675,kelch-like family member 38,581aa) | g.8:124664919del,c.248del,p.83fs |