| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48694236T>G | CA346751511 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.935A>C (p.Asn312Thr) c.3441+22556T>G (n.3441+22556T>G) c.866+4379A>C (n.866+4379A>C) c.276+22556T>G (n.276+22556T>G) c.*208A>C (n.*208A>C) c.-11+5A>C (n.-11+5A>C) c.860A>C (p.Asn287Thr) c.674A>C (p.Asn225Thr) c.606-5387A>C (n.606-5387A>C) c.299A>C (p.Asn100Thr) c.680A>C (p.Asn227Thr) | dbSNP gnomAD v4 |
| 2 | g.48694236T>C | CA1653123 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.935A>G (p.Asn312Ser) c.3441+22556T>C (n.3441+22556T>C) c.866+4379A>G (n.866+4379A>G) c.276+22556T>C (n.276+22556T>C) c.*208A>G (n.*208A>G) c.-11+5A>G (n.-11+5A>G) c.860A>G (p.Asn287Ser) c.674A>G (p.Asn225Ser) c.606-5387A>G (n.606-5387A>G) c.299A>G (p.Asn100Ser) c.680A>G (p.Asn227Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |