| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74503490T>C | CA156258 | LTBP2 | c.4699A>G (p.Met1567Val) c.4567A>G (p.Met1523Val) c.4318A>G (p.Met1440Val) c.4240A>G (p.Met1414Val) c.4216A>G (p.Met1406Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74503490T= | CA2147075401 | LTBP2 | c.4699A= (p.Met1567=) c.4567A= (p.Met1523=) c.4318A= (p.Met1440=) c.4240A= (p.Met1414=) c.4216A= (p.Met1406=) | dbSNP |