| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48723689A>G | CA123925 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.391T>C (p.Cys131Arg) c.3441+52009A>G (n.3441+52009A>G) c.289T>C (p.Cys97Arg) c.277-9204A>G (n.277-9204A>G) c.316T>C (p.Cys106Arg) c.322T>C (p.Cys108Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.48723689A= | CA1248619272 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.391T= (p.Cys131=) c.3441+52009A= (n.3441+52009A=) c.289T= (p.Cys97=) c.277-9204A= (n.277-9204A=) c.316T= (p.Cys106=) c.322T= (p.Cys108=) | dbSNP |