Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688064T>CCA123916GTF2A1L,LHCGR,STON1-GTF2A1Lc.1733A>G (p.Asp578Gly)
c.*45A>G (n.*45A>G)
c.3441+16384T>C (n.3441+16384T>C)
c.*477A>G (n.*477A>G)
c.1652A>G (p.Asp551Gly)
c.276+16384T>C (n.276+16384T>C)
c.*220+6160A>G (n.*220+6160A>G)
c.776A>G (p.Asp259Gly)
c.803A>G (p.Asp268Gly)
c.1658A>G (p.Asp553Gly)
c.1472A>G (p.Asp491Gly)
c.1391A>G (p.Asp464Gly)
c.1097A>G (p.Asp366Gly)
c.1478A>G (p.Asp493Gly)
ClinVar dbSNP
2g.48688064T>GCA346744915GTF2A1L,LHCGR,STON1-GTF2A1Lc.1733A>C (p.Asp578Ala)
c.*45A>C (n.*45A>C)
c.3441+16384T>G (n.3441+16384T>G)
c.*477A>C (n.*477A>C)
c.1652A>C (p.Asp551Ala)
c.276+16384T>G (n.276+16384T>G)
c.*220+6160A>C (n.*220+6160A>C)
c.776A>C (p.Asp259Ala)
c.803A>C (p.Asp268Ala)
c.1658A>C (p.Asp553Ala)
c.1472A>C (p.Asp491Ala)
c.1391A>C (p.Asp464Ala)
c.1097A>C (p.Asp366Ala)
c.1478A>C (p.Asp493Ala)
ClinVar dbSNP

Number of alleles fetched