| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.133756878C>T | CA2625084 | TF | c.739C>T (p.Leu247=) c.358C>T (p.Leu120=) c.158-54C>T (n.158-54C>T) c.607C>T (p.Leu203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133756878C>A | CA354604776 | TF | c.739C>A (p.Leu247Met) c.358C>A (p.Leu120Met) c.158-54C>A (n.158-54C>A) c.607C>A (p.Leu203Met) | dbSNP |