Table 2.
Mutations identified by exon-capture sequencing
| Variants | Rs_ID | MAF-dbSNP | MAF-HapMap | MAF-1K project | MAF-in-house |
|---|---|---|---|---|---|
| p.Arg371Gly |
rs612969 |
0.5 |
0.394 |
0.4432 |
0.3892 |
| p.Ala495Ala |
rs536069 |
0.629 |
0.533 |
0.6007 |
0.4627 |
| p.Ile752Ile |
rs10502247 |
0.449 |
0.474 |
0.402 |
0.4988 |
| p.Val932Ala |
rs520805 |
- |
0.387 |
0.3526 |
0.3843 |
| p.Tyr935Tyr |
rs586473 |
0.588 |
0.504 |
0.5696 |
0.4663 |
| p.Ser1724Asn |
rs526433 |
- |
0.993 |
0.9936 |
0.9964 |
| p.Ser1878Ser |
rs2155369 |
- |
0.314 |
0.2244 |
0.4181 |
| p.Asp2006Tyr | novel | - | - | 0 | 0 |