| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.176945951C>G | CA16609500 | ASTN1 | c.2224G>C (p.Gly742Arg) n.2521G>C n.2402G>C c.2248G>C (p.Gly750Arg) n.2426G>C | ClinVar dbSNP |
| 1 | g.176945951C>T | CA1258938 | ASTN1 | c.2224G>A (p.Gly742Arg) n.2521G>A n.2402G>A c.2248G>A (p.Gly750Arg) n.2426G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |