| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.79611973C>A | CA377354783 | SFTPA1 | c.148C>A (p.Leu50Ile) c.193C>A (p.Leu65Ile) c.130+63C>A (n.130+63C>A) c.85+63C>A (n.85+63C>A) | dbSNP gnomAD v4 |
| 10 | g.79611973C>G | CA5574397 | SFTPA1 | c.148C>G (p.Leu50Val) c.193C>G (p.Leu65Val) c.130+63C>G (n.130+63C>G) c.85+63C>G (n.85+63C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |