| 基因名 | 突变 |
|---|---|
| LRRC1(NM_018214,leucine rich repeat containing 1,524aa) | g.6:53761683A>G,c.560A>G,p.Y187C |
| LRRC19(NM_022901,leucine rich repeat containing 19,370aa) | g.9:26998183C>A,c.138G>T,p.K46N |
| LRRC19(NM_022901,leucine rich repeat containing 19,370aa) | g.9:26998047C>T,c.274G>A,p.G92S |
| LRRC19(NM_022901,leucine rich repeat containing 19,370aa) | g.9:26997968A>G,c.353T>C,p.L118S |
| LRRC19(NM_022901,leucine rich repeat containing 19,370aa) | g.9:26997839del,c.482del,p.161fs |
| LRRC19(NM_022901,leucine rich repeat containing 19,370aa) | g.9:26995821C>T,c.811G>A,p.A271T |
| LRRC19(NM_022901,leucine rich repeat containing 19,370aa) | g.9:26995787G>A,c.845C>T,p.T282M |
| LRRC19(NM_022901,leucine rich repeat containing 19,370aa) | g.9:26995580T>A,c.1052A>T,p.D351V |
| LRRC18(NM_001006939,leucine rich repeat containing 18,261aa) | g.10:50122181C>A,c.20G>T,p.G7V |
| LRRC18(NM_001006939,leucine rich repeat containing 18,261aa) | g.10:50122109C>T,c.92G>A,p.R31H |
| LRRC18(NM_001006939,leucine rich repeat containing 18,261aa) | g.10:50122058C>T,c.143G>A,p.R48H |
| LRRC18(NM_001006939,leucine rich repeat containing 18,261aa) | g.10:50121785G>A,c.416C>T,p.T139I |
| LRRC18(NM_001006939,leucine rich repeat containing 18,261aa) | g.10:50121720C>T,c.481G>A,p.V161M |
| LRRC18(NM_001006939,leucine rich repeat containing 18,261aa) | g.10:50121636T>G,c.565A>C,p.I189L |
| LRRC18(NM_001006939,leucine rich repeat containing 18,261aa) | g.10:50121634T>C,c.567A>G,p.I189M |
| LRRC18(NM_001006939,leucine rich repeat containing 18,261aa) | g.10:50121512G>A,c.689C>T,p.T230M |
| LRRC17(NM_005824,leucine rich repeat containing 17,313aa) | g.7:102575018T>A,c.658T>A,p.L220M |
| LRRC17(NM_005824,leucine rich repeat containing 17,313aa) | g.7:102575006G>A,c.646G>A,p.E216K |
| LRRC17(NM_005824,leucine rich repeat containing 17,313aa) | g.7:102575002A>T,c.642A>T,p.E214D |
| LRRC17(NM_005824,leucine rich repeat containing 17,313aa) | g.7:102575000_102575002del,c.640_642del,p.214del |
| LRRC17(NM_005824,leucine rich repeat containing 17,313aa) | g.7:102574971G>A,c.611G>A,p.R204Q |
| LRRC17(NM_005824,leucine rich repeat containing 17,313aa) | g.7:102574920G>C,c.560G>C,p.G187A |
| LRRC17(NM_005824,leucine rich repeat containing 17,313aa) | g.7:102574715A>G,c.355A>G,p.K119E |
| LRRC17(NM_005824,leucine rich repeat containing 17,313aa) | g.7:102574655A>G,c.295A>G,p.N99D |
| LRRC17(NM_005824,leucine rich repeat containing 17,313aa) | g.7:102574453T>G,c.93T>G,p.N31K |
| LRRC16B(NM_138360,leucine rich repeat containing 16B,1372aa) | g.14:24538127C>T,c.3934C>T,p.R1312W |
| LRRC16B(NM_138360,leucine rich repeat containing 16B,1372aa) | g.14:24534916G>T,c.3482G>T,p.G1161V |
| LRRC16B(NM_138360,leucine rich repeat containing 16B,1372aa) | g.14:24534471C>T,c.3385C>T,p.R1129C |