| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.23360281C>T | CA7113643 | EFS | c.298G>A (p.Val100Met) c.19G>A (p.Val7Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23360281C>A | CA389002816 | EFS | c.298G>T (p.Val100Leu) c.19G>T (p.Val7Leu) | dbSNP gnomAD v4 |
| 14 | g.23360281C= | CA2123419522 | EFS | c.298G= (p.Val100=) c.19G= (p.Val7=) | dbSNP |