| 基因名 | 突变 |
|---|---|
| CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) | g.1:52826803G>A,c.320C>T,p.T107M |
| CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) | g.1:52826789C>T,c.334G>A,p.V112I |
| CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) | g.1:52826711C>T,c.412G>A,p.G138S |
| CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) | g.1:52826104C>T,c.595G>A,p.G199S |
| CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) | g.1:52825552T>C,c.767A>G,p.N256S |
| CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) | g.1:52825399C>T,c.920G>A,p.R307Q |
| CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) | g.1:52825003C>G,c.1045G>C,p.A349P |
| CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) | g.1:52824763G>A,c.1193C>T,p.A398V |
| CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) | g.1:52823546C>G,c.1504G>C,p.V502L |
| CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) | g.1:52823340C>T,c.1628G>A,p.R543Q |
| CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) | g.1:52822075T>C,c.1936A>G,p.N646D |
| CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) | g.1:52821892G>A,c.2038C>T,p.H680Y |
| CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) | g.1:52821105C>T,c.2222G>A,p.S741N |
| CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) | g.1:52820581T>C,c.2288A>G,p.N763S |
| CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) | g.1:52820532C>G,c.2337G>C,p.K779N |
| CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) | g.1:52820303A>G,c.2425T>C,p.C809R |
| CC2D1A(NM_017721,coiled-coil and C2 domain containing 1A,951aa) | g.19:14040911C>G,c.2731C>G,p.R911G |
| CC2D1A(NM_017721,coiled-coil and C2 domain containing 1A,951aa) | g.19:14040896G>A,c.2716G>A,p.A906T |
| CC2D1A(NM_017721,coiled-coil and C2 domain containing 1A,951aa) | g.19:14040468G>A,c.2705G>A,p.R902Q |
| CC2D1A(NM_017721,coiled-coil and C2 domain containing 1A,951aa) | g.19:14040420G>A,c.2657G>A,p.R886H |
| CC2D1A(NM_017721,coiled-coil and C2 domain containing 1A,951aa) | g.19:14038791C>T,c.2402C>T,p.T801M |
| CC2D1A(NM_017721,coiled-coil and C2 domain containing 1A,951aa) | g.19:14038731G>T,c.2342G>T,p.G781V |
| CC2D1A(NM_017721,coiled-coil and C2 domain containing 1A,951aa) | g.19:14038731G>C,c.2342G>C,p.G781A |
| CC2D1A(NM_017721,coiled-coil and C2 domain containing 1A,951aa) | g.19:14037534A>G,c.2069A>G,p.N690S |
| CC2D1A(NM_017721,coiled-coil and C2 domain containing 1A,951aa) | g.19:14034617G>A,c.1933G>A,p.V645I |
| CC2D1A(NM_017721,coiled-coil and C2 domain containing 1A,951aa) | g.19:14034587A>T,c.1903A>T,p.T635S |
| CC2D1A(NM_017721,coiled-coil and C2 domain containing 1A,951aa) | g.19:14034243C>T,c.1739C>T,p.T580I |
| CC2D1A(NM_017721,coiled-coil and C2 domain containing 1A,951aa) | g.19:14034173G>A,c.1669G>A,p.D557N |