| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219213495G>T | CA204405 | ABCB6,ATG9A | c.1663C>A (p.Gln555Lys) c.1525C>A (p.Gln509Lys) c.1206C>A c.4388C>A c.739C>A n.1976C>A | ClinVar dbSNP |
| 2 | g.219213495G>A | CA350634207 | ABCB6,ATG9A | c.1663C>T (p.Gln555Ter) c.1525C>T (p.Gln509Ter) c.1206C>T c.4388C>T c.739C>T n.1976C>T | dbSNP gnomAD v4 |