| 基因名 | 突变 |
|---|---|
| COBL(NM_015198,cordon-bleu WH2 repeat protein,1261aa) | g.7:51096772del,c.2021del,p.674fs |
| COBL(NM_015198,cordon-bleu WH2 repeat protein,1261aa) | g.7:51096673G>A,c.2120C>T,p.T707M |
| COBL(NM_015198,cordon-bleu WH2 repeat protein,1261aa) | g.7:51096640C>G,c.2153G>C,p.R718P |
| COBL(NM_015198,cordon-bleu WH2 repeat protein,1261aa) | g.7:51096632C>G,c.2161G>C,p.D721H |
| COBL(NM_015198,cordon-bleu WH2 repeat protein,1261aa) | g.7:51096316C>T,c.2477G>A,p.R826Q |
| COBL(NM_015198,cordon-bleu WH2 repeat protein,1261aa) | g.7:51096036G>C,c.2757C>G,p.H919Q |
| COBL(NM_015198,cordon-bleu WH2 repeat protein,1261aa) | g.7:51096014C>T,c.2779G>A,p.D927N |
| COBL(NM_015198,cordon-bleu WH2 repeat protein,1261aa) | g.7:51095837G>A,c.2956C>T,p.R986C |
| COBL(NM_015198,cordon-bleu WH2 repeat protein,1261aa) | g.7:51095836C>T,c.2957G>A,p.R986H |
| COBL(NM_015198,cordon-bleu WH2 repeat protein,1261aa) | g.7:51095750C>G,c.3043G>C,p.A1015P |
| COBL(NM_015198,cordon-bleu WH2 repeat protein,1261aa) | g.7:51095659C>T,c.3134G>A,p.G1045D |
| COBL(NM_015198,cordon-bleu WH2 repeat protein,1261aa) | g.7:51095420T>C,c.3373A>G,p.R1125G |
| COBL(NM_015198,cordon-bleu WH2 repeat protein,1261aa) | g.7:51094269G>A,c.3478C>T,p.H1160Y |
| COBL(NM_015198,cordon-bleu WH2 repeat protein,1261aa) | g.7:51093066C>T,c.3508G>A,p.A1170T |
| COBLL1(NM_001278458,cordon-bleu WH2 repeat protein-like 1,1233aa) | g.2:165698547G>A,c.8C>T,p.P3L |
| COBLL1(NM_001278458,cordon-bleu WH2 repeat protein-like 1,1233aa) | g.2:165657066T>C,c.180-2A>G,p.60Acceptor |
| COBLL1(NM_001278458,cordon-bleu WH2 repeat protein-like 1,1233aa) | g.2:165578602C>T,c.1177G>A,p.V393M |
| COBLL1(NM_001278458,cordon-bleu WH2 repeat protein-like 1,1233aa) | g.2:165561600C>T,c.1210G>A,p.G404R |
| COBLL1(NM_001278458,cordon-bleu WH2 repeat protein-like 1,1233aa) | g.2:165557122del,c.1685del,p.562fs |
| COBLL1(NM_001278458,cordon-bleu WH2 repeat protein-like 1,1233aa) | g.2:165557069T>C,c.1738A>G,p.M580V |
| COBLL1(NM_001278458,cordon-bleu WH2 repeat protein-like 1,1233aa) | g.2:165552167T>C,c.2050A>G,p.N684D |
| COBLL1(NM_001278458,cordon-bleu WH2 repeat protein-like 1,1233aa) | g.2:165552130A>G,c.2087T>C,p.L696P |
| COBLL1(NM_001278458,cordon-bleu WH2 repeat protein-like 1,1233aa) | g.2:165551864G>T,c.2353C>A,p.H785N |
| COBLL1(NM_001278458,cordon-bleu WH2 repeat protein-like 1,1233aa) | g.2:165551863T>C,c.2354A>G,p.H785R |
| COBLL1(NM_001278458,cordon-bleu WH2 repeat protein-like 1,1233aa) | g.2:165551669A>G,c.2548T>C,p.S850P |
| COBLL1(NM_001278458,cordon-bleu WH2 repeat protein-like 1,1233aa) | g.2:165551638T>C,c.2579A>G,p.Y860C |
| COBLL1(NM_001278458,cordon-bleu WH2 repeat protein-like 1,1233aa) | g.2:165551509G>A,c.2708C>T,p.P903L |
| COBLL1(NM_001278458,cordon-bleu WH2 repeat protein-like 1,1233aa) | g.2:165551404G>A,c.2813C>T,p.T938I |