| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48537755G>A | CA16614457 | FBN1 | c.592C>T (p.Gln198Ter) | ClinVar dbSNP |
| 15 | g.48537755G>T | CA392446084 | FBN1 | c.592C>A (p.Gln198Lys) | dbSNP gnomAD v4 |
| 15 | g.48537755G= | CA2175539515 | FBN1 | c.592C= (p.Gln198=) | dbSNP |