| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688292A>G | CA250650 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1505T>C (p.Leu502Pro) c.948-153T>C (n.948-153T>C) c.3441+16612A>G (n.3441+16612A>G) c.*249T>C (n.*249T>C) c.1424T>C (p.Leu475Pro) c.276+16612A>G (n.276+16612A>G) c.*220+5932T>C (n.*220+5932T>C) c.548T>C (p.Leu183Pro) c.575T>C (p.Leu192Pro) c.1430T>C (p.Leu477Pro) c.1244T>C (p.Leu415Pro) c.1163T>C (p.Leu388Pro) c.869T>C (p.Leu290Pro) c.1250T>C (p.Leu417Pro) | ClinVar dbSNP |
| 2 | g.48688292A= | CA1248601065 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1505T= (p.Leu502=) c.948-153T= (n.948-153T=) c.3441+16612A= (n.3441+16612A=) c.*249T= (n.*249T=) c.1424T= (p.Leu475=) c.276+16612A= (n.276+16612A=) c.*220+5932T= (n.*220+5932T=) c.548T= (p.Leu183=) c.575T= (p.Leu192=) c.1430T= (p.Leu477=) c.1244T= (p.Leu415=) c.1163T= (p.Leu388=) c.869T= (p.Leu290=) c.1250T= (p.Leu417=) | dbSNP |