| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.126424898C>T | CA16044398 | KIRREL3,ST3GAL4 | c.2019G>A (p.Met673Ile) c.1896G>A (p.Met632Ile) n.630-15288C>T c.1983G>A (p.Met661Ile) c.772-15288C>T (n.772-15288C>T) c.2112G>A (p.Met704Ile) c.2094G>A (p.Met698Ile) c.2037G>A (p.Met679Ile) c.2001G>A (p.Met667Ile) c.1452G>A (p.Met484Ile) c.2058G>A (p.Met686Ile) | ClinVar dbSNP |
| 11 | g.126424898C>A | CA383227489 | KIRREL3,ST3GAL4 | c.2019G>T (p.Met673Ile) c.1896G>T (p.Met632Ile) n.630-15288C>A c.1983G>T (p.Met661Ile) c.772-15288C>A (n.772-15288C>A) c.2112G>T (p.Met704Ile) c.2094G>T (p.Met698Ile) c.2037G>T (p.Met679Ile) c.2001G>T (p.Met667Ile) c.1452G>T (p.Met484Ile) c.2058G>T (p.Met686Ile) | dbSNP gnomAD v2 |