| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.45766066G>T | CA9520552 | SIX5 | c.1655C>A (p.Thr552Lys) c.632C>A c.*1081C>A (n.*1081C>A) c.16-104C>A (n.16-104C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45766066G>A | CA340801 | SIX5 | c.1655C>T (p.Thr552Met) c.632C>T c.*1081C>T (n.*1081C>T) c.16-104C>T (n.16-104C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |