| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128335525A>T | CA281519 | FBN2 | n.561T>A n.642T>A c.3777T>A (p.Asn1259Lys) c.327T>A (p.Asn109Lys) c.3678T>A (p.Asn1226Lys) c.3774T>A (p.Asn1258Lys) c.3624T>A (p.Asn1208Lys) | ClinVar dbSNP |
| 5 | g.128335525A= | CA1581269618 | FBN2 | n.561T= n.642T= c.3777T= (p.Asn1259=) c.327T= (p.Asn109=) c.3678T= (p.Asn1226=) c.3774T= (p.Asn1258=) c.3624T= (p.Asn1208=) | dbSNP |