| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688604A>G | CA123924 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1193T>C (p.Met398Thr) c.948-465T>C (n.948-465T>C) c.3441+16924A>G (n.3441+16924A>G) c.948-21T>C (n.948-21T>C) c.1112T>C (p.Met371Thr) c.276+16924A>G (n.276+16924A>G) c.*220+5620T>C (n.*220+5620T>C) c.236T>C (p.Met79Thr) c.263T>C (p.Met88Thr) c.1118T>C (p.Met373Thr) c.932T>C (p.Met311Thr) c.851T>C (p.Met284Thr) c.557T>C (p.Met186Thr) c.938T>C (p.Met313Thr) | ClinVar dbSNP |
| 2 | g.48688604A= | CA1248601201 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1193T= (p.Met398=) c.948-465T= (n.948-465T=) c.3441+16924A= (n.3441+16924A=) c.948-21T= (n.948-21T=) c.1112T= (p.Met371=) c.276+16924A= (n.276+16924A=) c.*220+5620T= (n.*220+5620T=) c.236T= (p.Met79=) c.263T= (p.Met88=) c.1118T= (p.Met373=) c.932T= (p.Met311=) c.851T= (p.Met284=) c.557T= (p.Met186=) c.938T= (p.Met313=) | dbSNP |