| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.151671058C>A | CA348815435 | NEB | c.4471G>T (p.Val1491Leu) n.323G>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.151671058C>T | CA148238 | NEB | c.4471G>A (p.Val1491Met) n.323G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.151671058C= | CA1298289976 | NEB | c.4471G= (p.Val1491=) n.323G= | dbSNP |