| 基因名 | 突变 |
|---|---|
| LRRC39(NM_001256385,leucine rich repeat containing 39,339aa) | g.1:100620657G>T,c.762C>A,p.N254K |
| LRRC39(NM_001256385,leucine rich repeat containing 39,339aa) | g.1:100618006_100618008del,c.885_887del,p.295_296del |
| LRRC38(NM_001010847,leucine rich repeat containing 38,294aa) | g.1:13839770C>T,c.319G>A,p.V107M |
| LRRC38(NM_001010847,leucine rich repeat containing 38,294aa) | g.1:13802373G>A,c.826C>T,p.L276F |
| LRRC38(NM_001010847,leucine rich repeat containing 38,294aa) | g.1:13802325T>C,c.874A>G,p.K292E |
| LRRC37B(NM_052888,leucine rich repeat containing 37B,947aa) | g.17:30380327C>T,c.2824C>T,p.P942S |
| LRRC37B(NM_052888,leucine rich repeat containing 37B,947aa) | g.17:30377105T>G,c.2760T>G,p.I920M |
| LRRC37B(NM_052888,leucine rich repeat containing 37B,947aa) | g.17:30374866A>G,c.2329A>G,p.I777V |
| LRRC37B(NM_052888,leucine rich repeat containing 37B,947aa) | g.17:30372739C>T,c.2144C>T,p.A715V |
| LRRC37B(NM_052888,leucine rich repeat containing 37B,947aa) | g.17:30354820C>A,c.1784C>A,p.P595H |
| LRRC37B(NM_052888,leucine rich repeat containing 37B,947aa) | g.17:30351758C>A,c.1708C>A,p.L570I |
| LRRC37B(NM_052888,leucine rich repeat containing 37B,947aa) | g.17:30349693G>C,c.1528G>C,p.E510Q |
| LRRC37B(NM_052888,leucine rich repeat containing 37B,947aa) | g.17:30349511C>T,c.1346C>T,p.P449L |
| LRRC37B(NM_052888,leucine rich repeat containing 37B,947aa) | g.17:30349265A>G,c.1100A>G,p.Q367R |
| LRRC37B(NM_052888,leucine rich repeat containing 37B,947aa) | g.17:30348898G>T,c.733G>T,p.A245S |
| LRRC37B(NM_052888,leucine rich repeat containing 37B,947aa) | g.17:30348815G>A,c.650G>A,p.R217H |
| LRRC37B(NM_052888,leucine rich repeat containing 37B,947aa) | g.17:30348712A>C,c.547A>C,p.T183P |
| LRRC37B(NM_052888,leucine rich repeat containing 37B,947aa) | g.17:30348581A>G,c.416A>G,p.N139S |
| LRRC37B(NM_052888,leucine rich repeat containing 37B,947aa) | g.17:30348575T>A,c.410T>A,p.L137H |
| LRRC37B(NM_052888,leucine rich repeat containing 37B,947aa) | g.17:30348407C>T,c.242C>T,p.S81L |
| LRRC37B(NM_052888,leucine rich repeat containing 37B,947aa) | g.17:30348206C>T,c.41C>T,p.T14M |
| LRRC37A(NM_014834,leucine rich repeat containing 37A,1700aa) | g.17:44408965C>G,c.4322C>G,p.T1441S |
| LRRC37A(NM_014834,leucine rich repeat containing 37A,1700aa) | g.17:44408776T>C,c.4133T>C,p.L1378P |
| LRRC37A(NM_014834,leucine rich repeat containing 37A,1700aa) | g.17:44374853G>A,c.2354G>A,p.R785Q |
| LRRC37A(NM_014834,leucine rich repeat containing 37A,1700aa) | g.17:44374721C>T,c.2222C>T,p.T741M |
| LRRC37A3(NM_199340,leucine rich repeat containing 37, member A3,1634aa) | g.17:62893356G>A,c.20C>T,p.P7L |
| LRRC37A3(NM_199340,leucine rich repeat containing 37, member A3,1634aa) | g.17:62892799C>T,c.577G>A,p.G193S |
| LRRC37A3(NM_199340,leucine rich repeat containing 37, member A3,1634aa) | g.17:62892271A>T,c.1105T>A,p.S369T |