| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688106T>C | CA123935 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1691A>G (p.Asp564Gly) c.*3A>G (n.*3A>G) c.3441+16426T>C (n.3441+16426T>C) c.*435A>G (n.*435A>G) c.1610A>G (p.Asp537Gly) c.276+16426T>C (n.276+16426T>C) c.*220+6118A>G (n.*220+6118A>G) c.734A>G (p.Asp245Gly) c.761A>G (p.Asp254Gly) c.1616A>G (p.Asp539Gly) c.1430A>G (p.Asp477Gly) c.1349A>G (p.Asp450Gly) c.1055A>G (p.Asp352Gly) c.1436A>G (p.Asp479Gly) | ClinVar dbSNP |
| 2 | g.48688106T>A | CA346745190 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1691A>T (p.Asp564Val) c.*3A>T (n.*3A>T) c.3441+16426T>A (n.3441+16426T>A) c.*435A>T (n.*435A>T) c.1610A>T (p.Asp537Val) c.276+16426T>A (n.276+16426T>A) c.*220+6118A>T (n.*220+6118A>T) c.734A>T (p.Asp245Val) c.761A>T (p.Asp254Val) c.1616A>T (p.Asp539Val) c.1430A>T (p.Asp477Val) c.1349A>T (p.Asp450Val) c.1055A>T (p.Asp352Val) c.1436A>T (p.Asp479Val) | ClinVar dbSNP |