| 基因名 | 突变 |
|---|---|
| C1orf131(NM_152379,chromosome 1 open reading frame 131,293aa) | g.1:231376806G>C,c.82C>G,p.L28V |
| C1orf131(NM_152379,chromosome 1 open reading frame 131,293aa) | g.1:231374798C>G,c.255G>C,p.K85N |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11036248G>A,c.92C>T,p.T31M |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11030107G>A,c.167C>T,p.S56L |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11015165A>G,c.857T>C,p.I286T |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11014199G>C,c.976C>G,p.R326G |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11014174G>A,c.1001C>T,p.P334L |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11014118C>T,c.1057G>A,p.A353T |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11009844G>A,c.1127C>T,p.T376I |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11009766G>C,c.1205C>G,p.S402C |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11009703C>T,c.1268G>A,p.R423Q |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11009679G>A,c.1290+2C>T,p.430Donor |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11008864G>A,c.1328C>T,p.A443V |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11008799G>C,c.1393C>G,p.P465A |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11008778T>A,c.1414A>T,p.I472F |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11008762G>A,c.1430C>T,p.T477I |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11008685T>C,c.1507A>G,p.T503A |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11008613G>A,c.1579C>T,p.R527X |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11008594A>T,c.1598T>A,p.V533D |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11008483_11008484insC,c.1708_1709insG,p.570fs |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11008417G>A,c.1775C>T,p.A592V |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11008102G>A,c.2090C>T,p.A697V |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11007881G>T,c.2311C>A,p.L771I |
| C1orf127(NM_001170754,chromosome 1 open reading frame 127,823aa) | g.1:11007724C>T,c.2468G>A,p.R823H |
| C1orf123(NM_017887,chromosome 1 open reading frame 123,160aa) | g.1:53681725C>T,c.343G>A,p.G115R |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207200898C>T,c.46G>A,p.V16M |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207200895T>A,c.49A>T,p.T17S |
| C1orf116(NM_023938,chromosome 1 open reading frame 116,601aa) | g.1:207200886C>T,c.58G>A,p.G20S |