| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.79557289G>T | CA5573983 | SFTPA2 | c.667C>A (p.Gln223Lys) c.718C>A (p.Gln240Lys) c.697C>A (p.Gln233Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.79557289G>C | CA377352765 | SFTPA2 | c.667C>G (p.Gln223Glu) c.718C>G (p.Gln240Glu) c.697C>G (p.Gln233Glu) | dbSNP |
| 10 | g.79557289G= | CA1630848392 | SFTPA2 | c.667C= (p.Gln223=) c.718C= (p.Gln240=) c.697C= (p.Gln233=) | dbSNP |
| 10 | g.79557289G>A | CA377352764 | SFTPA2 | c.667C>T (p.Gln223Ter) c.718C>T (p.Gln240Ter) c.697C>T (p.Gln233Ter) | dbSNP gnomAD v4 |