| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219570282G>T | CA236121 | INHA,OBSL1 | c.951C>A (p.Tyr317Ter) c.-228+1112C>A (n.-228+1112C>A) n.458C>A n.510C>A n.285+836G>T | ClinVar dbSNP |
| 2 | g.219570282G>A | CA2131695 | INHA,OBSL1 | c.951C>T (p.Tyr317=) c.-228+1112C>T (n.-228+1112C>T) n.458C>T n.510C>T n.285+836G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |