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| cDNA Change | Protein Change | SDM | MAESTROweb |
|---|---|---|---|
| c.3500T>A | p.Leu1167His | Destabilising | Destabilising |
| c.4487C>A | p.Thr1496Lys | Destabilizing | Stabilising |
| c.5617C>T | p.Arg1873Trp | Highly stabilising | Stabilising |
| c.6229T>A | p.Trp2077Arg | Highly destabilising | Destabilising |
