| 基因名 | 突变 |
|---|---|
| CCDC92(NM_025140,coiled-coil domain containing 92,331aa) | g.12:124422108C>T,c.493G>A,p.A165T |
| CCDC92(NM_025140,coiled-coil domain containing 92,331aa) | g.12:124421934T>C,c.667A>G,p.R223G |
| CCDC92(NM_025140,coiled-coil domain containing 92,331aa) | g.12:124421781C>T,c.820G>A,p.G274S |
| CCDC92(NM_025140,coiled-coil domain containing 92,331aa) | g.12:124421759C>T,c.842G>A,p.R281H |
| CCDC92(NM_025140,coiled-coil domain containing 92,331aa) | g.12:124421750G>A,c.851C>T,p.P284L |
| CCDC91(NM_018318,coiled-coil domain containing 91,441aa) | g.12:28605588G>A,c.1101+1G>A,p.367Donor |
| CCDC91(NM_018318,coiled-coil domain containing 91,441aa) | g.12:28605426G>A,c.940G>A,p.V314M |
| CCDC91(NM_018318,coiled-coil domain containing 91,441aa) | g.12:28605423G>A,c.937G>A,p.A313T |
| CCDC91(NM_018318,coiled-coil domain containing 91,441aa) | g.12:28603302T>G,c.875T>G,p.L292W |
| CCDC91(NM_018318,coiled-coil domain containing 91,441aa) | g.12:28603112A>G,c.781A>G,p.M261V |
| CCDC91(NM_018318,coiled-coil domain containing 91,441aa) | g.12:28459796C>T,c.389C>T,p.S130F |
| CCDC91(NM_018318,coiled-coil domain containing 91,441aa) | g.12:28459733A>C,c.326A>C,p.D109A |
| CCDC91(NM_018318,coiled-coil domain containing 91,441aa) | g.12:28459684T>A,c.277T>A,p.S93T |
| CCDC91(NM_018318,coiled-coil domain containing 91,441aa) | g.12:28458630G>A,c.158G>A,p.R53H |
| CCDC91(NM_018318,coiled-coil domain containing 91,441aa) | g.12:28412372G>A,c.106G>A,p.A36T |
| CCDC90B(NM_021825,coiled-coil domain containing 90B,254aa) | g.11:82997002T>C,c.14A>G,p.Q5R |
| CCDC90B(NM_021825,coiled-coil domain containing 90B,254aa) | g.11:82996986A>C,c.30T>G,p.F10L |
| CCDC90B(NM_021825,coiled-coil domain containing 90B,254aa) | g.11:82996964G>C,c.52C>G,p.R18G |
| CCDC90B(NM_021825,coiled-coil domain containing 90B,254aa) | g.11:82991264C>T,c.140G>A,p.R47Q |
| CCDC90B(NM_021825,coiled-coil domain containing 90B,254aa) | g.11:82976966A>G,c.650T>C,p.I217T |
| CCDC90B(NM_021825,coiled-coil domain containing 90B,254aa) | g.11:82976964C>A,c.652G>T,p.A218S |
| CCDC8(NM_032040,coiled-coil domain containing 8,538aa) | g.19:46915774G>T,c.294C>A,p.D98E |
| CCDC8(NM_032040,coiled-coil domain containing 8,538aa) | g.19:46915245G>A,c.823C>T,p.R275W |
| CCDC8(NM_032040,coiled-coil domain containing 8,538aa) | g.19:46915205C>T,c.863G>A,p.G288E |
| CCDC8(NM_032040,coiled-coil domain containing 8,538aa) | g.19:46915182C>T,c.886G>A,p.G296R |
| CCDC8(NM_032040,coiled-coil domain containing 8,538aa) | g.19:46915114A>C,c.954T>G,p.N318K |
| CCDC8(NM_032040,coiled-coil domain containing 8,538aa) | g.19:46915091T>C,c.977A>G,p.D326G |
| CCDC8(NM_032040,coiled-coil domain containing 8,538aa) | g.19:46914927C>T,c.1141G>A,p.D381N |