| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.38318340C>T | CA384575564 | ALG10B | c.251C>T (p.Ala84Val) c.225C>T (p.Cys75=) n.1574C>T c.71C>T (p.Ala24Val) | dbSNP |
| 12 | g.38318340C>G | CA6509175 | ALG10B | c.251C>G (p.Ala84Gly) c.225C>G (p.Cys75Trp) n.1574C>G c.71C>G (p.Ala24Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.38318340C>A | CA384575563 | ALG10B | c.251C>A (p.Ala84Glu) c.225C>A (p.Cys75Ter) n.1574C>A c.71C>A (p.Ala24Glu) | dbSNP |