| 基因名 | 突变 |
|---|---|
| LRRC48(NM_001130090,leucine rich repeat containing 48,523aa) | g.17:17887186A>G,c.205A>G,p.K69E |
| LRRC48(NM_001130090,leucine rich repeat containing 48,523aa) | g.17:17881007G>A,c.95G>A,p.G32E |
| LRRC47(NM_020710,leucine rich repeat containing 47,583aa) | g.1:3713027G>A,c.14C>T,p.A5V |
| LRRC47(NM_020710,leucine rich repeat containing 47,583aa) | g.1:3703793G>A,c.697C>T,p.R233C |
| LRRC47(NM_020710,leucine rich repeat containing 47,583aa) | g.1:3703775C>T,c.715G>A,p.D239N |
| LRRC47(NM_020710,leucine rich repeat containing 47,583aa) | g.1:3703678C>T,c.812G>A,p.R271H |
| LRRC47(NM_020710,leucine rich repeat containing 47,583aa) | g.1:3703666G>A,c.824C>T,p.S275L |
| LRRC47(NM_020710,leucine rich repeat containing 47,583aa) | g.1:3701698C>T,c.1147G>A,p.V383I |
| LRRC47(NM_020710,leucine rich repeat containing 47,583aa) | g.1:3697663C>T,c.1741G>A,p.V581I |
| LRRC46(NM_033413,leucine rich repeat containing 46,321aa) | g.17:45914403G>A,c.883G>A,p.A295T |
| LRRC46(NM_033413,leucine rich repeat containing 46,321aa) | g.17:45914244G>A,c.724G>A,p.V242M |
| LRRC46(NM_033413,leucine rich repeat containing 46,321aa) | g.17:45914125_45914136del,c.605_616del,p.202_206del |
| LRRC46(NM_033413,leucine rich repeat containing 46,321aa) | g.17:45913467C>T,c.451C>T,p.R151C |
| LRRC46(NM_033413,leucine rich repeat containing 46,321aa) | g.17:45913405_45913406insC,c.389_390insC,p.130fs |
| LRRC46(NM_033413,leucine rich repeat containing 46,321aa) | g.17:45911840A>T,c.166A>T,p.I56F |
| LRRC45(NM_144999,leucine rich repeat containing 45,670aa) | g.17:79987948G>A,c.1502G>A,p.R501H |
| LRRC45(NM_144999,leucine rich repeat containing 45,670aa) | g.17:79987501G>A,c.1484G>A,p.R495H |
| LRRC45(NM_144999,leucine rich repeat containing 45,670aa) | g.17:79987456G>A,c.1439G>A,p.R480H |
| LRRC45(NM_144999,leucine rich repeat containing 45,670aa) | g.17:79986156C>T,c.1094C>T,p.A365V |
| LRRC45(NM_144999,leucine rich repeat containing 45,670aa) | g.17:79985563C>T,c.847C>T,p.R283C |
| LRRC45(NM_144999,leucine rich repeat containing 45,670aa) | g.17:79984843C>T,c.730C>T,p.L244F |
| LRRC45(NM_144999,leucine rich repeat containing 45,670aa) | g.17:79983359C>T,c.637C>T,p.P213S |
| LRRC45(NM_144999,leucine rich repeat containing 45,670aa) | g.17:79982622G>C,c.336G>C,p.Q112H |
| LRRC45(NM_144999,leucine rich repeat containing 45,670aa) | g.17:79981533G>A,c.14G>A,p.R5Q |
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122685372G>A,c.1700G>A,p.R567Q |
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122685164A>G,c.1577A>G,p.K526R |
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122685163A>G,c.1576A>G,p.K526E |
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122685139A>G,c.1552A>G,p.K518E |