| 基因名 | 突变 |
|---|---|
| LRRC40(NM_017768,leucine rich repeat containing 40,602aa) | g.1:70654841T>C,c.267A>G,p.I89M |
| LRRC40(NM_017768,leucine rich repeat containing 40,602aa) | g.1:70654780G>C,c.328C>G,p.L110V |
| LRRC40(NM_017768,leucine rich repeat containing 40,602aa) | g.1:70650509T>C,c.496A>G,p.I166V |
| LRRC40(NM_017768,leucine rich repeat containing 40,602aa) | g.1:70644596G>A,c.742C>T,p.L248F |
| LRRC40(NM_017768,leucine rich repeat containing 40,602aa) | g.1:70644587G>A,c.751C>T,p.R251W |
| LRRC40(NM_017768,leucine rich repeat containing 40,602aa) | g.1:70641553T>G,c.917A>C,p.D306A |
| LRRC40(NM_017768,leucine rich repeat containing 40,602aa) | g.1:70639324A>G,c.1046T>C,p.I349T |
| LRRC40(NM_017768,leucine rich repeat containing 40,602aa) | g.1:70625071G>A,c.1162C>T,p.P388S |
| LRRC40(NM_017768,leucine rich repeat containing 40,602aa) | g.1:70621415A>C,c.1285T>G,p.S429A |
| LRRC40(NM_017768,leucine rich repeat containing 40,602aa) | g.1:70621412T>C,c.1288A>G,p.I430V |
| LRRC40(NM_017768,leucine rich repeat containing 40,602aa) | g.1:70616830T>C,c.1498A>G,p.I500V |
| LRRC40(NM_017768,leucine rich repeat containing 40,602aa) | g.1:70614326C>T,c.1547G>A,p.R516H |
| LRRC40(NM_017768,leucine rich repeat containing 40,602aa) | g.1:70614236G>A,c.1637C>T,p.T546M |
| LRRC3(NM_030891,leucine rich repeat containing 3,257aa) | g.21:45877291C>T,c.764C>T,p.P255L |
| LRRC3(NM_030891,leucine rich repeat containing 3,257aa) | g.21:45877269G>A,c.742G>A,p.A248T |
| LRRC3(NM_030891,leucine rich repeat containing 3,257aa) | g.21:45877228G>A,c.701G>A,p.R234Q |
| LRRC3(NM_030891,leucine rich repeat containing 3,257aa) | g.21:45877078C>T,c.551C>T,p.P184L |
| LRRC3(NM_030891,leucine rich repeat containing 3,257aa) | g.21:45876852G>A,c.325G>A,p.A109T |
| LRRC3(NM_030891,leucine rich repeat containing 3,257aa) | g.21:45876793G>A,c.266G>A,p.R89Q |
| LRRC3(NM_030891,leucine rich repeat containing 3,257aa) | g.21:45876772G>A,c.245G>A,p.G82E |
| LRRC3(NM_030891,leucine rich repeat containing 3,257aa) | g.21:45876685G>A,c.158G>A,p.R53Q |
| LRRC3C(NM_001195545,leucine rich repeat containing 3C,275aa) | g.17:38100916C>T,c.757C>T,p.R253C |
| LRRC3C(NM_001195545,leucine rich repeat containing 3C,275aa) | g.17:38100769G>A,c.610G>A,p.A204T |
| LRRC3C(NM_001195545,leucine rich repeat containing 3C,275aa) | g.17:38100673C>G,c.514C>G,p.L172V |
| LRRC3C(NM_001195545,leucine rich repeat containing 3C,275aa) | g.17:38100448G>C,c.289G>C,p.G97R |
| LRRC39(NM_001256385,leucine rich repeat containing 39,339aa) | g.1:100626120G>A,c.121C>T,p.R41W |
| LRRC39(NM_001256385,leucine rich repeat containing 39,339aa) | g.1:100624830T>A,c.361A>T,p.I121L |
| LRRC39(NM_001256385,leucine rich repeat containing 39,339aa) | g.1:100620728G>A,c.691C>T,p.R231X |