| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48687923A>T | CA123928 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1874T>A (p.Ile625Lys) c.*186T>A (n.*186T>A) c.3441+16243A>T (n.3441+16243A>T) c.*618T>A (n.*618T>A) c.1793T>A (p.Ile598Lys) c.276+16243A>T (n.276+16243A>T) c.*220+6301T>A (n.*220+6301T>A) c.917T>A (p.Ile306Lys) c.944T>A (p.Ile315Lys) c.1799T>A (p.Ile600Lys) c.1613T>A (p.Ile538Lys) c.1532T>A (p.Ile511Lys) c.1238T>A (p.Ile413Lys) c.1619T>A (p.Ile540Lys) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 2 | g.48687923A= | CA1248600904 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1874T= (p.Ile625=) c.*186T= (n.*186T=) c.3441+16243A= (n.3441+16243A=) c.*618T= (n.*618T=) c.1793T= (p.Ile598=) c.276+16243A= (n.276+16243A=) c.*220+6301T= (n.*220+6301T=) c.917T= (p.Ile306=) c.944T= (p.Ile315=) c.1799T= (p.Ile600=) c.1613T= (p.Ile538=) c.1532T= (p.Ile511=) c.1238T= (p.Ile413=) c.1619T= (p.Ile540=) | dbSNP |