| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.12649932G>C | CA404242568 | MAN2B1 | c.2248C>G (p.Arg750Gly) c.2245C>G (p.Arg749Gly) n.2838C>G c.2251C>G (p.Arg751Gly) c.1147C>G (p.Arg383Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.12649932G>A | CA339901 | MAN2B1 | c.2248C>T (p.Arg750Trp) c.2245C>T (p.Arg749Trp) n.2838C>T c.2251C>T (p.Arg751Trp) c.1147C>T (p.Arg383Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.12649932G>T | CA9226149 | MAN2B1 | c.2248C>A (p.Arg750=) c.2245C>A (p.Arg749=) n.2838C>A c.2251C>A (p.Arg751=) c.1147C>A (p.Arg383=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |