| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128338975C>G | CA3395240 | FBN2 | n.214G>C n.295G>C c.3430G>C (p.Glu1144Gln) c.-21G>C (n.-21G>C) c.3331G>C (p.Glu1111Gln) c.3427G>C (p.Glu1143Gln) c.3277G>C (p.Glu1093Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128338975C>T | CA174026 | FBN2 | n.214G>A n.295G>A c.3430G>A (p.Glu1144Lys) c.-21G>A (n.-21G>A) c.3331G>A (p.Glu1111Lys) c.3427G>A (p.Glu1143Lys) c.3277G>A (p.Glu1093Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |