| 基因名 | 突变 |
|---|---|
| CITED4(NM_133467,Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4,184aa) | g.1:41327773C>G,c.27G>C,p.E9D |
| CITED4(NM_133467,Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4,184aa) | g.1:41327705A>T,c.95T>A,p.L32Q |
| CITED4(NM_133467,Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4,184aa) | g.1:41327630C>G,c.170G>C,p.R57P |
| CITED4(NM_133467,Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4,184aa) | g.1:41327627T>C,c.173A>G,p.Q58R |
| CITED4(NM_133467,Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4,184aa) | g.1:41327445C>T,c.355G>A,p.A119T |
| CITED4(NM_133467,Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4,184aa) | g.1:41327390A>C,c.410T>G,p.I137S |
| CITED4(NM_133467,Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4,184aa) | g.1:41327281C>A,c.519G>T,p.L173F |
| CITED2(NM_006079,Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2,270aa) | g.6:139694603T>A,c.479A>T,p.H160L |
| CITED2(NM_006079,Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2,270aa) | g.6:139694448T>C,c.634A>G,p.M212V |
| CITED1(NM_004143,Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1,193aa) | g.X:71521867G>C,c.288C>G,p.H96Q |
| CITED1(NM_004143,Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1,193aa) | g.X:71521800C>G,c.355G>C,p.G119R |
| CISH(NM_013324,cytokine inducible SH2-containing protein,275aa) | g.3:50645923G>T,c.173C>A,p.A58D |
| CISH(NM_013324,cytokine inducible SH2-containing protein,275aa) | g.3:50645911T>A,c.185A>T,p.E62V |
| CISH(NM_013324,cytokine inducible SH2-containing protein,275aa) | g.3:50645812C>T,c.284G>A,p.R95Q |
| CISH(NM_013324,cytokine inducible SH2-containing protein,275aa) | g.3:50645478_50645479insG,c.387_388insC,p.129fs |
| CISH(NM_013324,cytokine inducible SH2-containing protein,275aa) | g.3:50645412C>T,c.454G>A,p.D152N |
| CISD3(NM_001136498,CDGSH iron sulfur domain 3,127aa) | g.17:36889559C>T,c.235C>T,p.R79C |
| CISD3(NM_001136498,CDGSH iron sulfur domain 3,127aa) | g.17:36889541G>A,c.217G>A,p.G73S |
| CIRH1A(NM_032830,cirrhosis, autosomal recessive 1A (cirhin),686aa) | g.16:69201050C>T,c.1906C>T,p.R636C |
| CIRH1A(NM_032830,cirrhosis, autosomal recessive 1A (cirhin),686aa) | g.16:69199289C>T,c.1693C>T,p.R565W |
| CIRH1A(NM_032830,cirrhosis, autosomal recessive 1A (cirhin),686aa) | g.16:69189792T>C,c.1183T>C,p.C395R |
| CIRH1A(NM_032830,cirrhosis, autosomal recessive 1A (cirhin),686aa) | g.16:69170741G>T,c.302G>T,p.G101V |
| CIRH1A(NM_032830,cirrhosis, autosomal recessive 1A (cirhin),686aa) | g.16:69167436A>G,c.74A>G,p.N25S |
| CIRBP(NM_001280,cold inducible RNA binding protein,172aa) | g.19:1271445C>T,c.328C>T,p.R110W |
| CIR1(NM_004882,corepressor interacting with RBPJ, 1,450aa) | g.2:175215434C>T,c.631G>A,p.E211K |
| CIR1(NM_004882,corepressor interacting with RBPJ, 1,450aa) | g.2:175213645G>C,c.933C>G,p.D311E |
| CIR1(NM_004882,corepressor interacting with RBPJ, 1,450aa) | g.2:175213593G>A,c.985C>T,p.R329W |
| CIR1(NM_004882,corepressor interacting with RBPJ, 1,450aa) | g.2:175213587T>C,c.991A>G,p.K331E |