| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688173T>G | CA123929 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1624A>C (p.Ile542Leu) c.948-34A>C (n.948-34A>C) c.3441+16493T>G (n.3441+16493T>G) c.*368A>C (n.*368A>C) c.1543A>C (p.Ile515Leu) c.276+16493T>G (n.276+16493T>G) c.*220+6051A>C (n.*220+6051A>C) c.667A>C (p.Ile223Leu) c.694A>C (p.Ile232Leu) c.1549A>C (p.Ile517Leu) c.1363A>C (p.Ile455Leu) c.1282A>C (p.Ile428Leu) c.988A>C (p.Ile330Leu) c.1369A>C (p.Ile457Leu) | ClinVar dbSNP |
| 2 | g.48688173T>C | CA346745757 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1624A>G (p.Ile542Val) c.948-34A>G (n.948-34A>G) c.3441+16493T>C (n.3441+16493T>C) c.*368A>G (n.*368A>G) c.1543A>G (p.Ile515Val) c.276+16493T>C (n.276+16493T>C) c.*220+6051A>G (n.*220+6051A>G) c.667A>G (p.Ile223Val) c.694A>G (p.Ile232Val) c.1549A>G (p.Ile517Val) c.1363A>G (p.Ile455Val) c.1282A>G (p.Ile428Val) c.988A>G (p.Ile330Val) c.1369A>G (p.Ile457Val) | dbSNP gnomAD v4 |
| 2 | g.48688173T= | CA1248601019 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1624A= (p.Ile542=) c.948-34A= (n.948-34A=) c.3441+16493T= (n.3441+16493T=) c.*368A= (n.*368A=) c.1543A= (p.Ile515=) c.276+16493T= (n.276+16493T=) c.*220+6051A= (n.*220+6051A=) c.667A= (p.Ile223=) c.694A= (p.Ile232=) c.1549A= (p.Ile517=) c.1363A= (p.Ile455=) c.1282A= (p.Ile428=) c.988A= (p.Ile330=) c.1369A= (p.Ile457=) | dbSNP |