| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128349443C>G | CA360765481 | FBN2 | c.2893G>C (p.Val965Leu) c.2794G>C (p.Val932Leu) c.2890G>C (p.Val964Leu) c.2740G>C (p.Val914Leu) | dbSNP |
| 5 | g.128349443C>T | CA288818 | FBN2 | c.2893G>A (p.Val965Ile) c.2794G>A (p.Val932Ile) c.2890G>A (p.Val964Ile) c.2740G>A (p.Val914Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |