| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154364263A>T | CA121668 | FLNA | c.2132T>A (p.Val711Asp) c.2051T>A (p.Val684Asp) c.2189T>A (n.2189T>A) c.279+1173T>A c.2411T>A (n.2411T>A) c.2088T>A (n.2088T>A) c.1931T>A (p.Val644Asp) | ClinVar dbSNP |
| X | g.154364263A= | CA2466657627 | FLNA | c.2132T= (p.Val711=) c.2051T= (p.Val684=) c.2189T= (n.2189T=) c.279+1173T= c.2411T= (n.2411T=) c.2088T= (n.2088T=) c.1931T= (p.Val644=) | dbSNP |