| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.112233178C>T | CA114319 | PTS | c.259C>T (p.Pro87Ser) c.55C>T (p.Pro19Ser) c.179C>T (p.Ala60Val) n.433C>T n.300C>T c.*68C>T (n.*68C>T) n.210C>T c.220C>T (p.Pro74Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.112233178C>G | CA6278559 | PTS | c.259C>G (p.Pro87Ala) c.55C>G (p.Pro19Ala) c.179C>G (p.Ala60Gly) n.433C>G n.300C>G c.*68C>G (n.*68C>G) n.210C>G c.220C>G (p.Pro74Ala) | dbSNP ExAC gnomAD v2 |