| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688064T>C | CA123916 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
| 2 | g.48688064T>G | CA346744915 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
| 2 | g.48688064T= | CA1248600970 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1733A= (p.Asp578=) c.*45A= (n.*45A=) c.3441+16384T= (n.3441+16384T=) c.*477A= (n.*477A=) c.1652A= (p.Asp551=) c.276+16384T= (n.276+16384T=) c.*220+6160A= (n.*220+6160A=) c.776A= (p.Asp259=) c.803A= (p.Asp268=) c.1658A= (p.Asp553=) c.1472A= (p.Asp491=) c.1391A= (p.Asp464=) c.1097A= (p.Asp366=) c.1478A= (p.Asp493=) | dbSNP |