| 基因名 | 突变 |
|---|---|
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65489352G>A,c.3272C>T,p.A1091V |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65489247C>T,c.3377G>A,p.R1126H |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65489128C>T,c.3496G>A,p.G1166S |
| CILP2(NM_153221,cartilage intermediate layer protein 2,1156aa) | g.19:19656556A>G,c.3202A>G,p.S1068G |
| CILP2(NM_153221,cartilage intermediate layer protein 2,1156aa) | g.19:19656535G>A,c.3181G>A,p.V1061I |
| CILP2(NM_153221,cartilage intermediate layer protein 2,1156aa) | g.19:19655969C>T,c.2615C>T,p.A872V |
| CILP2(NM_153221,cartilage intermediate layer protein 2,1156aa) | g.19:19655657C>G,c.2303C>G,p.A768G |
| CILP2(NM_153221,cartilage intermediate layer protein 2,1156aa) | g.19:19655545G>T,c.2191G>T,p.V731L |
| CILP2(NM_153221,cartilage intermediate layer protein 2,1156aa) | g.19:19655368A>G,c.2014A>G,p.M672V |
| CILP2(NM_153221,cartilage intermediate layer protein 2,1156aa) | g.19:19655137G>A,c.1783G>A,p.D595N |
| CILP2(NM_153221,cartilage intermediate layer protein 2,1156aa) | g.19:19654895C>T,c.1541C>T,p.P514L |
| CILP2(NM_153221,cartilage intermediate layer protein 2,1156aa) | g.19:19654517G>A,c.1163G>A,p.R388Q |
| CILP2(NM_153221,cartilage intermediate layer protein 2,1156aa) | g.19:19654185G>A,c.1106G>A,p.R369H |
| CILP2(NM_153221,cartilage intermediate layer protein 2,1156aa) | g.19:19654181G>A,c.1102G>A,p.V368M |
| CILP2(NM_153221,cartilage intermediate layer protein 2,1156aa) | g.19:19654088G>C,c.1009G>C,p.A337P |
| CILP2(NM_153221,cartilage intermediate layer protein 2,1156aa) | g.19:19653231T>A,c.640T>A,p.S214T |
| CILP2(NM_153221,cartilage intermediate layer protein 2,1156aa) | g.19:19653211C>T,c.620C>T,p.P207L |
| CIITA(NM_000246,class II, major histocompatibility complex, transactivator,1130aa) | g.16:11016080C>T,c.3206C>T,p.P1069L |
| CIITA(NM_000246,class II, major histocompatibility complex, transactivator,1130aa) | g.16:11009480C>T,c.2942C>T,p.T981M |
| CIITA(NM_000246,class II, major histocompatibility complex, transactivator,1130aa) | g.16:11009462A>G,c.2924A>G,p.K975R |
| CIITA(NM_000246,class II, major histocompatibility complex, transactivator,1130aa) | g.16:11004113T>A,c.2885T>A,p.F962Y |
| CIITA(NM_000246,class II, major histocompatibility complex, transactivator,1130aa) | g.16:11002927A>G,c.2699A>G,p.Q900R |
| CIITA(NM_000246,class II, major histocompatibility complex, transactivator,1130aa) | g.16:11001865G>A,c.2516G>A,p.R839H |
| CIITA(NM_000246,class II, major histocompatibility complex, transactivator,1130aa) | g.16:11001754G>A,c.2405G>A,p.R802Q |
| CIITA(NM_000246,class II, major histocompatibility complex, transactivator,1130aa) | g.16:11001705C>A,c.2356C>A,p.Q786K |
| CIITA(NM_000246,class II, major histocompatibility complex, transactivator,1130aa) | g.16:11001694T>C,c.2345T>C,p.V782A |
| CIITA(NM_000246,class II, major histocompatibility complex, transactivator,1130aa) | g.16:11001691C>T,c.2342C>T,p.S781L |
| CIITA(NM_000246,class II, major histocompatibility complex, transactivator,1130aa) | g.16:11001427G>A,c.2078G>A,p.G693D |