| 基因名 | 突变 |
|---|---|
| LRRC4(NM_022143,leucine rich repeat containing 4,653aa) | g.7:127668769G>T,c.1925C>A,p.T642N |
| LRRC4C(NM_001258419,leucine rich repeat containing 4C,640aa) | g.11:40137835T>G,c.8A>C,p.N3T |
| LRRC4C(NM_001258419,leucine rich repeat containing 4C,640aa) | g.11:40137800C>T,c.43G>A,p.G15S |
| LRRC4C(NM_001258419,leucine rich repeat containing 4C,640aa) | g.11:40136434C>T,c.1409G>A,p.R470Q |
| LRRC4C(NM_001258419,leucine rich repeat containing 4C,640aa) | g.11:40136261T>C,c.1582A>G,p.I528V |
| LRRC4C(NM_001258419,leucine rich repeat containing 4C,640aa) | g.11:40136176C>T,c.1667G>A,p.R556Q |
| LRRC4B(NM_001080457,leucine rich repeat containing 4B,713aa) | g.19:51052073G>A,c.23C>T,p.P8L |
| LRRC4B(NM_001080457,leucine rich repeat containing 4B,713aa) | g.19:51021984G>A,c.986C>T,p.T329M |
| LRRC4B(NM_001080457,leucine rich repeat containing 4B,713aa) | g.19:51021926del,c.1044del,p.348fs |
| LRRC4B(NM_001080457,leucine rich repeat containing 4B,713aa) | g.19:51021066G>A,c.1904C>T,p.A635V |
| LRRC4B(NM_001080457,leucine rich repeat containing 4B,713aa) | g.19:51021057A>G,c.1913T>C,p.V638A |
| LRRC49(NM_001199017,leucine rich repeat containing 49,691aa) | g.15:71329621C>T,c.1822C>T,p.R608C |
| LRRC49(NM_001199017,leucine rich repeat containing 49,691aa) | g.15:71329532G>A,c.1733G>A,p.R578Q |
| LRRC49(NM_001199017,leucine rich repeat containing 49,691aa) | g.15:71305225G>A,c.1691G>A,p.R564H |
| LRRC49(NM_001199017,leucine rich repeat containing 49,691aa) | g.15:71276488A>G,c.1076A>G,p.Q359R |
| LRRC49(NM_001199017,leucine rich repeat containing 49,691aa) | g.15:71276482_71276484del,c.1070_1072del,p.357_358del |
| LRRC49(NM_001199017,leucine rich repeat containing 49,691aa) | g.15:71276481_71276483del,c.1069_1071del,p.357del |
| LRRC49(NM_001199017,leucine rich repeat containing 49,691aa) | g.15:71272473del,c.970del,p.324fs |
| LRRC48(NM_001130090,leucine rich repeat containing 48,523aa) | g.17:17919921A>G,c.1508A>G,p.N503S |
| LRRC48(NM_001130090,leucine rich repeat containing 48,523aa) | g.17:17919414G>A,c.1363G>A,p.G455R |
| LRRC48(NM_001130090,leucine rich repeat containing 48,523aa) | g.17:17919397C>T,c.1346C>T,p.T449M |
| LRRC48(NM_001130090,leucine rich repeat containing 48,523aa) | g.17:17910435G>A,c.1300G>A,p.E434K |
| LRRC48(NM_001130090,leucine rich repeat containing 48,523aa) | g.17:17907768C>T,c.1091C>T,p.A364V |
| LRRC48(NM_001130090,leucine rich repeat containing 48,523aa) | g.17:17907714A>G,c.1037A>G,p.N346S |
| LRRC48(NM_001130090,leucine rich repeat containing 48,523aa) | g.17:17900914G>A,c.965G>A,p.R322H |
| LRRC48(NM_001130090,leucine rich repeat containing 48,523aa) | g.17:17900842G>A,c.893G>A,p.R298Q |
| LRRC48(NM_001130090,leucine rich repeat containing 48,523aa) | g.17:17896205C>T,c.571C>T,p.R191W |
| LRRC48(NM_001130090,leucine rich repeat containing 48,523aa) | g.17:17896110G>A,c.476G>A,p.R159Q |