| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74508727C>T | CA260587 | LTBP2 | c.3529G>A (p.Val1177Met) c.326G>A c.3148G>A (p.Val1050Met) c.3070G>A (p.Val1024Met) c.3046G>A (p.Val1016Met) | ClinVar dbSNP |
| 14 | g.74508727C>G | CA390388358 | LTBP2 | c.3529G>C (p.Val1177Leu) c.326G>C c.3148G>C (p.Val1050Leu) c.3070G>C (p.Val1024Leu) c.3046G>C (p.Val1016Leu) | dbSNP gnomAD v2 |
| 14 | g.74508727C= | CA2147077122 | LTBP2 | c.3529G= (p.Val1177=) c.326G= c.3148G= (p.Val1050=) c.3070G= (p.Val1024=) c.3046G= (p.Val1016=) | dbSNP |