| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128344385C>G | CA281516 | FBN2 | c.3343G>C (p.Asp1115His) c.3244G>C (p.Asp1082His) c.3340G>C (p.Asp1114His) c.3190G>C (p.Asp1064His) | ClinVar dbSNP |
| 5 | g.128344385C= | CA1581273725 | FBN2 | c.3343G= (p.Asp1115=) c.3244G= (p.Asp1082=) c.3340G= (p.Asp1114=) c.3190G= (p.Asp1064=) | dbSNP |