| 基因名 | 突变 |
|---|---|
| LRRC71(NM_144702,leucine rich repeat containing 71,559aa) | g.1:156894486C>T,c.491C>T,p.P164L |
| LRRC71(NM_144702,leucine rich repeat containing 71,559aa) | g.1:156890672T>C,c.77T>C,p.V26A |
| LRRC70(NM_181506,leucine rich repeat containing 70,622aa) | g.5:61876773C>T,c.1508C>T,p.P503L |
| LRRC6(NM_012472,leucine rich repeat containing 6,466aa) | g.8:133673753C>T,c.131G>A,p.R44Q |
| LRRC6(NM_012472,leucine rich repeat containing 6,466aa) | g.8:133645065G>C,c.574C>G,p.Q192E |
| LRRC6(NM_012472,leucine rich repeat containing 6,466aa) | g.8:133637659G>A,c.695C>T,p.T232I |
| LRRC6(NM_012472,leucine rich repeat containing 6,466aa) | g.8:133634908G>T,c.863C>A,p.P288H |
| LRRC6(NM_012472,leucine rich repeat containing 6,466aa) | g.8:133623547T>C,c.1037A>G,p.K346R |
| LRRC6(NM_012472,leucine rich repeat containing 6,466aa) | g.8:133596005C>T,c.1162G>A,p.G388S |
| LRRC6(NM_012472,leucine rich repeat containing 6,466aa) | g.8:133584612A>G,c.1343T>C,p.I448T |
| LRRC6(NM_012472,leucine rich repeat containing 6,466aa) | g.8:133584564G>A,c.1391C>T,p.P464L |
| LRRC6(NM_012472,leucine rich repeat containing 6,466aa) | g.8:133584558A>G,c.1397T>C,p.I466T |
| LRRC69(NM_001129890,leucine rich repeat containing 69,347aa) | g.8:92213022T>A,c.933+2T>A,p.311Donor |
| LRRC69(NM_001129890,leucine rich repeat containing 69,347aa) | g.8:92212910C>T,c.823C>T,p.R275W |
| LRRC69(NM_001129890,leucine rich repeat containing 69,347aa) | g.8:92201837G>A,c.739G>A,p.V247I |
| LRRC69(NM_001129890,leucine rich repeat containing 69,347aa) | g.8:92136839G>A,c.302G>A,p.G101E |
| LRRC69(NM_001129890,leucine rich repeat containing 69,347aa) | g.8:92136728C>T,c.191C>T,p.T64I |
| LRRC66(NM_001024611,leucine rich repeat containing 66,880aa) | g.4:52883526C>T,c.254G>A,p.W85X |
| LRRC66(NM_001024611,leucine rich repeat containing 66,880aa) | g.4:52883382G>T,c.398C>A,p.S133Y |
| LRRC66(NM_001024611,leucine rich repeat containing 66,880aa) | g.4:52869526C>T,c.529G>A,p.D177N |
| LRRC66(NM_001024611,leucine rich repeat containing 66,880aa) | g.4:52869505A>C,c.550T>G,p.L184V |
| LRRC66(NM_001024611,leucine rich repeat containing 66,880aa) | g.4:52864010T>A,c.760A>T,p.N254Y |
| LRRC66(NM_001024611,leucine rich repeat containing 66,880aa) | g.4:52862250A>G,c.938T>C,p.M313T |
| LRRC66(NM_001024611,leucine rich repeat containing 66,880aa) | g.4:52862163C>G,c.1025G>C,p.G342A |
| LRRC66(NM_001024611,leucine rich repeat containing 66,880aa) | g.4:52861564C>T,c.1624G>A,p.V542M |
| LRRC66(NM_001024611,leucine rich repeat containing 66,880aa) | g.4:52861334C>T,c.1854G>A,p.M618I |
| LRRC66(NM_001024611,leucine rich repeat containing 66,880aa) | g.4:52860750G>A,c.2438C>T,p.P813L |
| LRRC61(NM_001142928,leucine rich repeat containing 61,259aa) | g.7:150034654G>A,c.704G>A,p.R235H |