Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48694236T>GCA346751511GTF2A1L,LHCGR,STON1-GTF2A1Lc.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
2g.48694236T>CCA1653123GTF2A1L,LHCGR,STON1-GTF2A1Lc.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
2g.48694236T=CA1248603963GTF2A1L,LHCGR,STON1-GTF2A1Lc.935A= (p.Asn312=)
c.3441+22556T= (n.3441+22556T=)
c.866+4379A= (n.866+4379A=)
c.276+22556T= (n.276+22556T=)
c.*208A= (n.*208A=)
c.-11+5A= (n.-11+5A=)
c.860A= (p.Asn287=)
c.674A= (p.Asn225=)
c.606-5387A= (n.606-5387A=)
c.299A= (p.Asn100=)
c.680A= (p.Asn227=)
 dbSNP

Number of alleles fetched