| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74552291G>A | CA151335 | LTBP2 | c.1295C>T (p.Pro432Leu) n.124-941C>T c.836C>T (p.Pro279Leu) c.812C>T (p.Pro271Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74552291G>C | CA390400308 | LTBP2 | c.1295C>G (p.Pro432Arg) n.124-941C>G c.836C>G (p.Pro279Arg) c.812C>G (p.Pro271Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |