| 基因名 | 突变 |
|---|---|
| COMMD8(NM_017845,COMM domain containing 8,183aa) | g.4:47465646G>A,c.23C>T,p.P8L |
| COMMD8(NM_017845,COMM domain containing 8,183aa) | g.4:47462309T>G,c.74A>C,p.H25P |
| COMMD8(NM_017845,COMM domain containing 8,183aa) | g.4:47455227G>A,c.380C>T,p.A127V |
| COMMD8(NM_017845,COMM domain containing 8,183aa) | g.4:47455100T>C,c.507A>G,p.I169M |
| COMMD8(NM_017845,COMM domain containing 8,183aa) | g.4:47455086G>A,c.521C>T,p.A174V |
| COMMD5(NM_014066,COMM domain containing 5,224aa) | g.8:146076708C>T,c.16G>A,p.A6T |
| COMMD5(NM_014066,COMM domain containing 5,224aa) | g.8:146076674C>G,c.50G>C,p.S17T |
| COMMD5(NM_014066,COMM domain containing 5,224aa) | g.8:146076611C>T,c.113G>A,p.R38Q |
| COMMD5(NM_014066,COMM domain containing 5,224aa) | g.8:146076515C>T,c.209G>A,p.R70H |
| COMMD5(NM_014066,COMM domain containing 5,224aa) | g.8:146076066G>A,c.658C>T,p.R220C |
| COMMD4(NM_017828,COMM domain containing 4,199aa) | g.15:75632336C>T,c.590C>T,p.S197F |
| COMMD4(NM_017828,COMM domain containing 4,199aa) | g.15:75632184C>G,c.524C>G,p.S175C |
| COMMD4(NM_017828,COMM domain containing 4,199aa) | g.15:75631625C>T,c.322C>T,p.R108C |
| COMMD4(NM_017828,COMM domain containing 4,199aa) | g.15:75631620T>C,c.317T>C,p.L106P |
| COMMD4(NM_017828,COMM domain containing 4,199aa) | g.15:75631412T>G,c.268T>G,p.S90A |
| COMMD3(NM_012071,COMM domain containing 3,195aa) | g.10:22607749T>G,c.426T>G,p.H142Q |
| COMMD3(NM_012071,COMM domain containing 3,195aa) | g.10:22607622C>T,c.391C>T,p.R131C |
| COMMD3-BMI1(NM_001204062,COMMD3-BMI1 readthrough,469aa) | g.10:22605398C>G,c.52C>G,p.R18G |
| COMMD3-BMI1(NM_001204062,COMMD3-BMI1 readthrough,469aa) | g.10:22605352G>T,c.6G>T,p.E2D |
| COMMD2(NM_016094,COMM domain containing 2,199aa) | g.3:149468530T>G,c.337A>C,p.I113L |
| COMMD1(NM_152516,copper metabolism (Murr1) domain containing 1,190aa) | g.2:62362966G>A,c.463G>A,p.E155K |
| COMMD1(NM_152516,copper metabolism (Murr1) domain containing 1,190aa) | g.2:62228013C>T,c.358C>T,p.R120W |
| COMMD1(NM_152516,copper metabolism (Murr1) domain containing 1,190aa) | g.2:62227932G>A,c.277G>A,p.V93I |
| COMMD10(NM_016144,COMM domain containing 10,202aa) | g.5:115428381T>G,c.383T>G,p.I128S |
| COMMD10(NM_016144,COMM domain containing 10,202aa) | g.5:115426819C>T,c.176C>T,p.A59V |
| COLQ(NM_080538,collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase,445aa) | g.3:15507874G>A,c.758C>T,p.P253L |
| COLQ(NM_080538,collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase,445aa) | g.3:15499713T>C,c.904A>G,p.S302G |
| COLQ(NM_080538,collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase,445aa) | g.3:15498023G>A,c.988C>T,p.R330C |