| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91936950C>A | CA390639604 | FBLN5 | c.*342G>T (n.*342G>T) c.208G>T (p.Val70Leu) c.550G>T (p.Val184Leu) c.376G>T (p.Val126Leu) c.*118+182G>T (n.*118+182G>T) c.499G>T (p.Val167Leu) c.391G>T (p.Val131Leu) c.427G>T (p.Val143Leu) | dbSNP |
| 14 | g.91936950C>T | CA213354 | FBLN5 | c.*342G>A (n.*342G>A) c.208G>A (p.Val70Met) c.550G>A (p.Val184Met) c.376G>A (p.Val126Met) c.*118+182G>A (n.*118+182G>A) c.499G>A (p.Val167Met) c.391G>A (p.Val131Met) c.427G>A (p.Val143Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91936950C= | CA2155180347 | FBLN5 | c.*342G= (n.*342G=) c.208G= (p.Val70=) c.550G= (p.Val184=) c.376G= (p.Val126=) c.*118+182G= (n.*118+182G=) c.499G= (p.Val167=) c.391G= (p.Val131=) c.427G= (p.Val143=) | dbSNP |