| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74555629G>T | CA487169456 | LTBP2 | c.895C>A (p.Arg299=) n.124-4279C>A c.436C>A (p.Arg146=) c.412C>A (p.Arg138=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74555629G>A | CA129849 | LTBP2 | c.895C>T (p.Arg299Ter) n.124-4279C>T c.436C>T (p.Arg146Ter) c.412C>T (p.Arg138Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |