| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74502911C>G | CA263578510 | LTBP2 | c.4912G>C (p.Val1638Leu) c.4780G>C (p.Val1594Leu) c.4531G>C (p.Val1511Leu) c.4453G>C (p.Val1485Leu) c.4429G>C (p.Val1477Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74502911C>T | CA151349 | LTBP2 | c.4912G>A (p.Val1638Met) c.4780G>A (p.Val1594Met) c.4531G>A (p.Val1511Met) c.4453G>A (p.Val1485Met) c.4429G>A (p.Val1477Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |