| 基因名 | 突变 |
|---|---|
| NLRP6(NM_138329,NLR family, pyrin domain containing 6,892aa) | g.11:284503C>T,c.2401C>T,p.L801F |
| NLRP6(NM_138329,NLR family, pyrin domain containing 6,892aa) | g.11:284477T>C,c.2375T>C,p.V792A |
| NLRP6(NM_138329,NLR family, pyrin domain containing 6,892aa) | g.11:284348C>T,c.2320C>T,p.R774C |
| NLRP6(NM_138329,NLR family, pyrin domain containing 6,892aa) | g.11:284304C>T,c.2276C>T,p.T759M |
| NLRP6(NM_138329,NLR family, pyrin domain containing 6,892aa) | g.11:282797C>T,c.2201C>T,p.T734M |
| NLRP6(NM_138329,NLR family, pyrin domain containing 6,892aa) | g.11:281692G>C,c.1958G>C,p.R653P |
| NLRP6(NM_138329,NLR family, pyrin domain containing 6,892aa) | g.11:280816A>T,c.1082A>T,p.Y361F |
| NLRP6(NM_138329,NLR family, pyrin domain containing 6,892aa) | g.11:280816_280817AT>TC,c.1082_1083AT>TC,p.Y361F |
| NLRP6(NM_138329,NLR family, pyrin domain containing 6,892aa) | g.11:280464C>G,c.730C>G,p.P244A |
| NLRP6(NM_138329,NLR family, pyrin domain containing 6,892aa) | g.11:280403G>C,c.669G>C,p.K223N |
| NLRP6(NM_138329,NLR family, pyrin domain containing 6,892aa) | g.11:280221A>C,c.487A>C,p.M163L |
| NLRP5(NM_153447,NLR family, pyrin domain containing 5,1200aa) | g.19:56572875G>A,c.3584G>A,p.R1195Q |
| NLRP5(NM_153447,NLR family, pyrin domain containing 5,1200aa) | g.19:56572832G>A,c.3541G>A,p.V1181I |
| NLRP5(NM_153447,NLR family, pyrin domain containing 5,1200aa) | g.19:56569673C>T,c.3367C>T,p.H1123Y |
| NLRP5(NM_153447,NLR family, pyrin domain containing 5,1200aa) | g.19:56569629C>G,c.3323C>G,p.S1108C |
| NLRP5(NM_153447,NLR family, pyrin domain containing 5,1200aa) | g.19:56565164G>A,c.3289G>A,p.A1097T |
| NLRP5(NM_153447,NLR family, pyrin domain containing 5,1200aa) | g.19:56565093C>T,c.3218C>T,p.T1073M |
| NLRP5(NM_153447,NLR family, pyrin domain containing 5,1200aa) | g.19:56565044C>G,c.3169C>G,p.L1057V |
| NLRP5(NM_153447,NLR family, pyrin domain containing 5,1200aa) | g.19:56561858C>T,c.3032C>T,p.T1011M |
| NLRP5(NM_153447,NLR family, pyrin domain containing 5,1200aa) | g.19:56549510T>C,c.2735T>C,p.M912T |
| NLRP5(NM_153447,NLR family, pyrin domain containing 5,1200aa) | g.19:56544970G>A,c.2510G>A,p.R837H |
| NLRP5(NM_153447,NLR family, pyrin domain containing 5,1200aa) | g.19:56543991C>T,c.2291C>T,p.T764I |
| NLRP5(NM_153447,NLR family, pyrin domain containing 5,1200aa) | g.19:56543982G>T,c.2282G>T,p.R761L |
| NLRP5(NM_153447,NLR family, pyrin domain containing 5,1200aa) | g.19:56539737C>T,c.2138C>T,p.P713L |
| NLRP5(NM_153447,NLR family, pyrin domain containing 5,1200aa) | g.19:56539700C>T,c.2101C>T,p.R701C |
| NLRP5(NM_153447,NLR family, pyrin domain containing 5,1200aa) | g.19:56539532G>A,c.1933G>A,p.V645I |
| NLRP5(NM_153447,NLR family, pyrin domain containing 5,1200aa) | g.19:56539256G>A,c.1657G>A,p.V553I |
| NLRP5(NM_153447,NLR family, pyrin domain containing 5,1200aa) | g.19:56539224G>A,c.1625G>A,p.R542K |