| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48723650C>G | CA346759230 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.430G>C (p.Val144Leu) c.3441+51970C>G (n.3441+51970C>G) c.328G>C (p.Val110Leu) c.277-9243C>G (n.277-9243C>G) c.355G>C (p.Val119Leu) c.361G>C (p.Val121Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.48723650C>T | CA1653324 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.430G>A (p.Val144Ile) c.3441+51970C>T (n.3441+51970C>T) c.328G>A (p.Val110Ile) c.277-9243C>T (n.277-9243C>T) c.355G>A (p.Val119Ile) c.361G>A (p.Val121Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.48723650C>A | CA250651 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.430G>T (p.Val144Phe) c.3441+51970C>A (n.3441+51970C>A) c.328G>T (p.Val110Phe) c.277-9243C>A (n.277-9243C>A) c.355G>T (p.Val119Phe) c.361G>T (p.Val121Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |