Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48688094G>T | CA346745104 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1703C>A (p.Ala568Asp) c.*15C>A (n.*15C>A) c.3441+16414G>T (n.3441+16414G>T) c.*447C>A (n.*447C>A) c.1622C>A (p.Ala541Asp) c.276+16414G>T (n.276+16414G>T) c.*220+6130C>A (n.*220+6130C>A) c.746C>A (p.Ala249Asp) c.773C>A (p.Ala258Asp) c.1628C>A (p.Ala543Asp) c.1442C>A (p.Ala481Asp) c.1361C>A (p.Ala454Asp) c.1067C>A (p.Ala356Asp) c.1448C>A (p.Ala483Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688094G>A | CA123933 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1703C>T (p.Ala568Val) c.*15C>T (n.*15C>T) c.3441+16414G>A (n.3441+16414G>A) c.*447C>T (n.*447C>T) c.1622C>T (p.Ala541Val) c.276+16414G>A (n.276+16414G>A) c.*220+6130C>T (n.*220+6130C>T) c.746C>T (p.Ala249Val) c.773C>T (p.Ala258Val) c.1628C>T (p.Ala543Val) c.1442C>T (p.Ala481Val) c.1361C>T (p.Ala454Val) c.1067C>T (p.Ala356Val) c.1448C>T (p.Ala483Val) | ClinVar dbSNP |