| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688067G>A | CA123919 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1730C>T (p.Thr577Ile) c.*42C>T (n.*42C>T) c.3441+16387G>A (n.3441+16387G>A) c.*474C>T (n.*474C>T) c.1649C>T (p.Thr550Ile) c.276+16387G>A (n.276+16387G>A) c.*220+6157C>T (n.*220+6157C>T) c.773C>T (p.Thr258Ile) c.800C>T (p.Thr267Ile) c.1655C>T (p.Thr552Ile) c.1469C>T (p.Thr490Ile) c.1388C>T (p.Thr463Ile) c.1094C>T (p.Thr365Ile) c.1475C>T (p.Thr492Ile) | ClinVar dbSNP COSMIC |
| 2 | g.48688067G= | CA1248600973 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1730C= (p.Thr577=) c.*42C= (n.*42C=) c.3441+16387G= (n.3441+16387G=) c.*474C= (n.*474C=) c.1649C= (p.Thr550=) c.276+16387G= (n.276+16387G=) c.*220+6157C= (n.*220+6157C=) c.773C= (p.Thr258=) c.800C= (p.Thr267=) c.1655C= (p.Thr552=) c.1469C= (p.Thr490=) c.1388C= (p.Thr463=) c.1094C= (p.Thr365=) c.1475C= (p.Thr492=) | dbSNP |