| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128344447C>T | CA320837 | FBN2 | c.3281G>A (p.Gly1094Glu) c.3182G>A (p.Gly1061Glu) c.3278G>A (p.Gly1093Glu) c.3128G>A (p.Gly1043Glu) | ClinVar dbSNP |
| 5 | g.128344447C= | CA1581273750 | FBN2 | c.3281G= (p.Gly1094=) c.3182G= (p.Gly1061=) c.3278G= (p.Gly1093=) c.3128G= (p.Gly1043=) | dbSNP |