| 基因名 | 突变 |
|---|---|
| KLHL36(NM_024731,kelch-like family member 36,616aa) | g.16:84691329G>A,c.916G>A,p.E306K |
| KLHL36(NM_024731,kelch-like family member 36,616aa) | g.16:84690538G>A,c.125G>A,p.R42H |
| KLHL36(NM_024731,kelch-like family member 36,616aa) | g.16:84684525G>A,c.52G>A,p.E18K |
| KLHL35(NM_001039548,kelch-like family member 35,583aa) | g.11:75136514G>A,c.1298C>T,p.S433L |
| KLHL35(NM_001039548,kelch-like family member 35,583aa) | g.11:75136494C>T,c.1318G>A,p.A440T |
| KLHL35(NM_001039548,kelch-like family member 35,583aa) | g.11:75134906T>C,c.1393A>G,p.K465E |
| KLHL35(NM_001039548,kelch-like family member 35,583aa) | g.11:75133796G>C,c.1580C>G,p.T527S |
| KLHL35(NM_001039548,kelch-like family member 35,583aa) | g.11:75133761G>A,c.1615C>T,p.R539W |
| KLHL34(NM_153270,kelch-like family member 34,644aa) | g.X:21675434A>G,c.473T>C,p.L158S |
| KLHL34(NM_153270,kelch-like family member 34,644aa) | g.X:21675357C>G,c.550G>C,p.G184R |
| KLHL34(NM_153270,kelch-like family member 34,644aa) | g.X:21675188G>C,c.719C>G,p.S240C |
| KLHL34(NM_153270,kelch-like family member 34,644aa) | g.X:21674954T>G,c.953A>C,p.E318A |
| KLHL33(NM_001109997,kelch-like family member 33,533aa) | g.14:20898347C>T,c.488G>A,p.R163H |
| KLHL33(NM_001109997,kelch-like family member 33,533aa) | g.14:20898308C>T,c.527G>A,p.R176Q |
| KLHL33(NM_001109997,kelch-like family member 33,533aa) | g.14:20898030G>C,c.805C>G,p.L269V |
| KLHL33(NM_001109997,kelch-like family member 33,533aa) | g.14:20898003C>T,c.832G>A,p.G278R |
| KLHL33(NM_001109997,kelch-like family member 33,533aa) | g.14:20897676T>C,c.1034A>G,p.E345G |
| KLHL33(NM_001109997,kelch-like family member 33,533aa) | g.14:20897670T>C,c.1040A>G,p.N347S |
| KLHL33(NM_001109997,kelch-like family member 33,533aa) | g.14:20897461G>C,c.1149C>G,p.Y383X |
| KLHL33(NM_001109997,kelch-like family member 33,533aa) | g.14:20897387C>T,c.1223G>A,p.R408Q |
| KLHL33(NM_001109997,kelch-like family member 33,533aa) | g.14:20897247G>T,c.1363C>A,p.H455N |
| KLHL33(NM_001109997,kelch-like family member 33,533aa) | g.14:20897183C>T,c.1427G>A,p.R476H |
| KLHL33(NM_001109997,kelch-like family member 33,533aa) | g.14:20897133G>A,c.1477C>T,p.R493X |
| KLHL33(NM_001109997,kelch-like family member 33,533aa) | g.14:20897064C>T,c.1546G>A,p.A516T |
| KLHL32(NM_052904,kelch-like family member 32,620aa) | g.6:97587028A>T,c.1733A>T,p.E578V |
| KLHL32(NM_052904,kelch-like family member 32,620aa) | g.6:97578649G>A,c.1430G>A,p.R477H |
| KLHL32(NM_052904,kelch-like family member 32,620aa) | g.6:97562260G>A,c.1229G>A,p.R410H |
| KLHL32(NM_052904,kelch-like family member 32,620aa) | g.6:97533122C>T,c.532C>T,p.R178C |