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Discordant variants only detected by the Sophia pipeline in the CES cohort.
| Sample | Gene | Transcript | Nucleotide | Type | Explanation |
|---|---|---|---|---|---|
| 17-0531 | PAX6 | NM_000280.5 | c.1268 A > T | Non-stop | Low AD/Homopolymer |
| 19-1853 | PAX6 | NM_000280.5 | c.1268 A > T | Non-stop | Low AD/Homopolymer |
| 20-1426 | PAX6 | NM_000280.5 | c.1268 A > T | Non-stop | Low AD/Homopolymer |
| 13-2707 | SPRY4 | NM_030964.4 | c.23-2 A > C | Essential splice site | Low AD |
| 19-1532 | ABCC6 | NM_001171.6 | c.474 + 5 G > C | Extended splice donor site | Low MQ |
