| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.22163524C>A | CA177956 | SFTPC | c.413C>A (p.Thr138Asn) c.254C>A (p.Thr85Asn) n.212C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22163524C>T | CA370537893 | SFTPC | c.413C>T (p.Thr138Ile) c.254C>T (p.Thr85Ile) n.212C>T | dbSNP gnomAD v4 |
| 8 | g.22163524C= | CA1630835122 | SFTPC | c.413C= (p.Thr138=) c.254C= (p.Thr85=) n.212C= | dbSNP |