| 基因名 | 突变 |
|---|---|
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122684846C>T,c.1460C>T,p.A487V |
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122676056A>G,c.1031A>G,p.Y344C |
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122674877A>G,c.863A>G,p.N288S |
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122674825A>G,c.811A>G,p.I271V |
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122674807T>C,c.793T>C,p.Y265H |
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122674780C>A,c.766C>A,p.Q256K |
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122674765C>T,c.751C>T,p.R251X |
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122674687G>A,c.673G>A,p.V225I |
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122672301del,c.576del,p.192fs |
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122670741C>T,c.416C>T,p.T139I |
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122669310G>C,c.395G>C,p.R132P |
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122669256G>A,c.341G>A,p.R114Q |
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122669255C>T,c.340C>T,p.R114W |
| LRRC43(NM_001098519,leucine rich repeat containing 43,656aa) | g.12:122669180C>T,c.265C>T,p.R89C |
| LRRC42(NM_001256409,leucine rich repeat containing 42,428aa) | g.1:54433490A>G,c.1165A>G,p.K389E |
| LRRC42(NM_001256409,leucine rich repeat containing 42,428aa) | g.1:54433353G>T,c.1028G>T,p.R343L |
| LRRC42(NM_001256409,leucine rich repeat containing 42,428aa) | g.1:54432047C>T,c.1006C>T,p.R336C |
| LRRC42(NM_001256409,leucine rich repeat containing 42,428aa) | g.1:54428014G>C,c.859G>C,p.V287L |
| LRRC42(NM_001256409,leucine rich repeat containing 42,428aa) | g.1:54417982A>G,c.310A>G,p.I104V |
| LRRC42(NM_001256409,leucine rich repeat containing 42,428aa) | g.1:54417755A>G,c.83A>G,p.N28S |
| LRRC41(NM_006369,leucine rich repeat containing 41,812aa) | g.1:46768970C>A,c.25G>T,p.A9S |
| LRRC41(NM_006369,leucine rich repeat containing 41,812aa) | g.1:46768864G>C,c.131C>G,p.P44R |
| LRRC41(NM_006369,leucine rich repeat containing 41,812aa) | g.1:46751556G>A,c.973C>T,p.R325W |
| LRRC41(NM_006369,leucine rich repeat containing 41,812aa) | g.1:46751448G>A,c.1081C>T,p.P361S |
| LRRC41(NM_006369,leucine rich repeat containing 41,812aa) | g.1:46751321C>T,c.1208G>A,p.R403H |
| LRRC41(NM_006369,leucine rich repeat containing 41,812aa) | g.1:46746857G>A,c.1696C>T,p.P566S |
| LRRC41(NM_006369,leucine rich repeat containing 41,812aa) | g.1:46746164C>T,c.1825G>A,p.V609I |
| LRRC40(NM_017768,leucine rich repeat containing 40,602aa) | g.1:70654870C>T,c.238G>A,p.E80K |