| 基因名 | 突变 |
|---|---|
| LRRC14B(NM_001080478,leucine rich repeat containing 14B,514aa) | g.5:191928G>A,c.275G>A,p.R92H |
| LRRC10(NM_201550,leucine rich repeat containing 10,277aa) | g.12:70004413G>A,c.206C>T,p.P69L |
| LRRC10(NM_201550,leucine rich repeat containing 10,277aa) | g.12:70004353G>A,c.266C>T,p.A89V |
| LRRC10(NM_201550,leucine rich repeat containing 10,277aa) | g.12:70004048A>T,c.571T>A,p.F191I |
| LRRC10(NM_201550,leucine rich repeat containing 10,277aa) | g.12:70004035A>G,c.584T>C,p.I195T |
| LRR1(NM_152329,leucine rich repeat protein 1,414aa) | g.14:50074826A>G,c.991A>G,p.I331V |
| LRR1(NM_152329,leucine rich repeat protein 1,414aa) | g.14:50074820C>T,c.985C>T,p.R329X |
| LRR1(NM_152329,leucine rich repeat protein 1,414aa) | g.14:50074658C>T,c.823C>T,p.R275C |
| LRR1(NM_152329,leucine rich repeat protein 1,414aa) | g.14:50074520C>T,c.685C>T,p.R229W |
| LRR1(NM_152329,leucine rich repeat protein 1,414aa) | g.14:50074502A>G,c.667A>G,p.T223A |
| LRR1(NM_152329,leucine rich repeat protein 1,414aa) | g.14:50074338G>A,c.503G>A,p.R168Q |
| LRR1(NM_152329,leucine rich repeat protein 1,414aa) | g.14:50074241A>G,c.406A>G,p.T136A |
| LRR1(NM_152329,leucine rich repeat protein 1,414aa) | g.14:50074122T>A,c.287T>A,p.I96N |
| LRR1(NM_152329,leucine rich repeat protein 1,414aa) | g.14:50069112T>C,c.208T>C,p.F70L |
| LRPPRC(NM_133259,leucine-rich pentatricopeptide repeat containing,1394aa) | g.2:44223046G>C,c.41C>G,p.A14G |
| LRPPRC(NM_133259,leucine-rich pentatricopeptide repeat containing,1394aa) | g.2:44223023G>C,c.64C>G,p.L22V |
| LRPPRC(NM_133259,leucine-rich pentatricopeptide repeat containing,1394aa) | g.2:44223008G>A,c.79C>T,p.L27F |
| LRPPRC(NM_133259,leucine-rich pentatricopeptide repeat containing,1394aa) | g.2:44200826A>G,c.1289T>C,p.V430A |
| LRPPRC(NM_133259,leucine-rich pentatricopeptide repeat containing,1394aa) | g.2:44190783T>C,c.1432A>G,p.T478A |
| LRPPRC(NM_133259,leucine-rich pentatricopeptide repeat containing,1394aa) | g.2:44184566G>A,c.1607C>T,p.S536L |
| LRPPRC(NM_133259,leucine-rich pentatricopeptide repeat containing,1394aa) | g.2:44177729T>C,c.1660A>G,p.I554V |
| LRPPRC(NM_133259,leucine-rich pentatricopeptide repeat containing,1394aa) | g.2:44175645T>C,c.1748A>G,p.Y583C |
| LRPPRC(NM_133259,leucine-rich pentatricopeptide repeat containing,1394aa) | g.2:44175552A>G,c.1841T>C,p.M614T |
| LRPPRC(NM_133259,leucine-rich pentatricopeptide repeat containing,1394aa) | g.2:44175301C>T,c.1880G>A,p.R627H |
| LRPPRC(NM_133259,leucine-rich pentatricopeptide repeat containing,1394aa) | g.2:44174403G>A,c.2072C>T,p.S691L |
| LRPPRC(NM_133259,leucine-rich pentatricopeptide repeat containing,1394aa) | g.2:44145469G>A,c.2965C>T,p.R989C |
| LRPPRC(NM_133259,leucine-rich pentatricopeptide repeat containing,1394aa) | g.2:44139587T>C,c.3259A>G,p.M1087V |
| LRPPRC(NM_133259,leucine-rich pentatricopeptide repeat containing,1394aa) | g.2:44128523C>T,c.3505G>A,p.E1169K |