| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48520795G>T | CA16607110 | FBN1 | c.1011C>A (p.Tyr337Ter) c.636+16916C>A (n.636+16916C>A) | ClinVar dbSNP |
| 15 | g.48520795G>A | CA490028544 | FBN1 | c.1011C>T (p.Tyr337=) c.636+16916C>T (n.636+16916C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520795G= | CA2175537764 | FBN1 | c.1011C= (p.Tyr337=) c.636+16916C= (n.636+16916C=) | dbSNP |