Variant Information
| Gene | Interpretation | ||||
|---|---|---|---|---|---|
| SRSF2 | chr17:74732935 | chr17:76736878 | c.283C>G | p.P95A | Pathogenic |
| SRSF2 | chr17:74732935 | chr17:76736853 | c.284_307delCCCCGGACTCACACCACAGCCGCC | p.P95_R103delinsR | Pathogenic |
| SRSF2 | chr17:74732959 | chr17:76736877 | c.284C>T | p.P95L | Pathogenic |