| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688020C>G | CA123918 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1777G>C (p.Ala593Pro) c.*89G>C (n.*89G>C) c.3441+16340C>G (n.3441+16340C>G) c.*521G>C (n.*521G>C) c.1696G>C (p.Ala566Pro) c.276+16340C>G (n.276+16340C>G) c.*220+6204G>C (n.*220+6204G>C) c.820G>C (p.Ala274Pro) c.847G>C (p.Ala283Pro) c.1702G>C (p.Ala568Pro) c.1516G>C (p.Ala506Pro) c.1435G>C (p.Ala479Pro) c.1141G>C (p.Ala381Pro) c.1522G>C (p.Ala508Pro) | ClinVar dbSNP |
| 2 | g.48688020C= | CA1248600950 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1777G= (p.Ala593=) c.*89G= (n.*89G=) c.3441+16340C= (n.3441+16340C=) c.*521G= (n.*521G=) c.1696G= (p.Ala566=) c.276+16340C= (n.276+16340C=) c.*220+6204G= (n.*220+6204G=) c.820G= (p.Ala274=) c.847G= (p.Ala283=) c.1702G= (p.Ala568=) c.1516G= (p.Ala506=) c.1435G= (p.Ala479=) c.1141G= (p.Ala381=) c.1522G= (p.Ala508=) | dbSNP |