| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48687950G>T | CA123923 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1847C>A (p.Ser616Tyr) c.*159C>A (n.*159C>A) c.3441+16270G>T (n.3441+16270G>T) c.*591C>A (n.*591C>A) c.1766C>A (p.Ser589Tyr) c.276+16270G>T (n.276+16270G>T) c.*220+6274C>A (n.*220+6274C>A) c.890C>A (p.Ser297Tyr) c.917C>A (p.Ser306Tyr) c.1772C>A (p.Ser591Tyr) c.1586C>A (p.Ser529Tyr) c.1505C>A (p.Ser502Tyr) c.1211C>A (p.Ser404Tyr) c.1592C>A (p.Ser531Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.48687950G= | CA1248600915 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1847C= (p.Ser616=) c.*159C= (n.*159C=) c.3441+16270G= (n.3441+16270G=) c.*591C= (n.*591C=) c.1766C= (p.Ser589=) c.276+16270G= (n.276+16270G=) c.*220+6274C= (n.*220+6274C=) c.890C= (p.Ser297=) c.917C= (p.Ser306=) c.1772C= (p.Ser591=) c.1586C= (p.Ser529=) c.1505C= (p.Ser502=) c.1211C= (p.Ser404=) c.1592C= (p.Ser531=) | dbSNP |