| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.12649418G>A | CA251911 | MAN2B1 | c.2278C>T (p.Arg760Ter) c.2275C>T (p.Arg759Ter) n.2868C>T c.2281C>T (p.Arg761Ter) c.1177C>T (p.Arg393Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.12649418G>C | CA404241777 | MAN2B1 | c.2278C>G (p.Arg760Gly) c.2275C>G (p.Arg759Gly) n.2868C>G c.2281C>G (p.Arg761Gly) c.1177C>G (p.Arg393Gly) | ClinVar dbSNP |