| 基因名 | 突变 |
|---|---|
| KLHL32(NM_052904,kelch-like family member 32,620aa) | g.6:97533027A>G,c.437A>G,p.D146G |
| KLHL32(NM_052904,kelch-like family member 32,620aa) | g.6:97512577A>G,c.386A>G,p.N129S |
| KLHL32(NM_052904,kelch-like family member 32,620aa) | g.6:97414949C>T,c.13C>T,p.R5C |
| KLHL31(NM_001003760,kelch-like family member 31,634aa) | g.6:53519759del,c.312del,p.104fs |
| KLHL31(NM_001003760,kelch-like family member 31,634aa) | g.6:53519755G>C,c.316C>G,p.P106A |
| KLHL31(NM_001003760,kelch-like family member 31,634aa) | g.6:53519605C>T,c.466G>A,p.V156I |
| KLHL31(NM_001003760,kelch-like family member 31,634aa) | g.6:53516779C>T,c.1522G>A,p.A508T |
| KLHL30(NM_198582,kelch-like family member 30,578aa) | g.2:239056579G>A,c.1255G>A,p.G419S |
| KLHL30(NM_198582,kelch-like family member 30,578aa) | g.2:239056505G>A,c.1181G>A,p.S394N |
| KLHL30(NM_198582,kelch-like family member 30,578aa) | g.2:239054401G>A,c.1078G>A,p.V360M |
| KLHL30(NM_198582,kelch-like family member 30,578aa) | g.2:239051536G>A,c.871G>A,p.G291S |
| KLHL30(NM_198582,kelch-like family member 30,578aa) | g.2:239050033C>T,c.638C>T,p.A213V |
| KLHL30(NM_198582,kelch-like family member 30,578aa) | g.2:239050005G>A,c.610G>A,p.V204M |
| KLHL30(NM_198582,kelch-like family member 30,578aa) | g.2:239049928G>A,c.533G>A,p.R178Q |
| KLHL30(NM_198582,kelch-like family member 30,578aa) | g.2:239049871G>A,c.476G>A,p.R159Q |
| KLHL30(NM_198582,kelch-like family member 30,578aa) | g.2:239049718G>A,c.323G>A,p.R108H |
| KLHL30(NM_198582,kelch-like family member 30,578aa) | g.2:239049630G>A,c.235G>A,p.V79M |
| KLHL30(NM_198582,kelch-like family member 30,578aa) | g.2:239049615G>A,c.220G>A,p.V74M |
| KLHL30(NM_198582,kelch-like family member 30,578aa) | g.2:239049540G>A,c.145G>A,p.G49S |
| KLHL2(NM_007246,kelch-like family member 2,593aa) | g.4:166159933A>G,c.263A>G,p.E88G |
| KLHL2(NM_007246,kelch-like family member 2,593aa) | g.4:166149999A>G,c.193A>G,p.M65V |
| KLHL29(NM_052920,kelch-like family member 29,875aa) | g.2:23929418G>A,c.2512G>A,p.G838S |
| KLHL29(NM_052920,kelch-like family member 29,875aa) | g.2:23926150G>A,c.2200G>A,p.V734M |
| KLHL29(NM_052920,kelch-like family member 29,875aa) | g.2:23919290_23919291insC,c.2012_2013insC,p.671fs |
| KLHL29(NM_052920,kelch-like family member 29,875aa) | g.2:23916258G>A,c.1402G>A,p.A468T |
| KLHL29(NM_052920,kelch-like family member 29,875aa) | g.2:23907302C>T,c.974C>T,p.A325V |
| KLHL29(NM_052920,kelch-like family member 29,875aa) | g.2:23865369C>G,c.589C>G,p.L197V |
| KLHL29(NM_052920,kelch-like family member 29,875aa) | g.2:23785268A>G,c.202A>G,p.T68A |