| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108768038C>T | CA1823605 | RANBP2 | c.2603-3663C>T (n.2603-3663C>T) c.2525-3663C>T (n.2525-3663C>T) c.2365C>T n.311C>T c.130C>T c.7499C>T (p.Thr2500Ile) c.7421C>T (p.Thr2474Ile) c.4571C>T (p.Thr1524Ile) c.7496C>T (p.Thr2499Ile) c.7322C>T (p.Thr2441Ile) c.4787C>T (p.Thr1596Ile) c.4568C>T (p.Thr1523Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108768038C>A | CA348078533 | RANBP2 | c.2603-3663C>A (n.2603-3663C>A) c.2525-3663C>A (n.2525-3663C>A) c.2365C>A n.311C>A c.130C>A c.7499C>A (p.Thr2500Lys) c.7421C>A (p.Thr2474Lys) c.4571C>A (p.Thr1524Lys) c.7496C>A (p.Thr2499Lys) c.7322C>A (p.Thr2441Lys) c.4787C>A (p.Thr1596Lys) c.4568C>A (p.Thr1523Lys) | dbSNP gnomAD v3 gnomAD v4 |