| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128338949C>T | CA325155 | FBN2 | n.240G>A n.321G>A c.3456G>A (p.Met1152Ile) c.6G>A (p.Met2Ile) c.3357G>A (p.Met1119Ile) c.3453G>A (p.Met1151Ile) c.3303G>A (p.Met1101Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128338949C>G | CA360759808 | FBN2 | n.240G>C n.321G>C c.3456G>C (p.Met1152Ile) c.6G>C (p.Met2Ile) c.3357G>C (p.Met1119Ile) c.3453G>C (p.Met1151Ile) c.3303G>C (p.Met1101Ile) | ClinVar dbSNP gnomAD v4 |
| 5 | g.128338949C= | CA1581271169 | FBN2 | n.240G= n.321G= c.3456G= (p.Met1152=) c.6G= (p.Met2=) c.3357G= (p.Met1119=) c.3453G= (p.Met1151=) c.3303G= (p.Met1101=) | dbSNP |