Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688094G>TCA346745104GTF2A1L,LHCGR,STON1-GTF2A1Lc.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
2g.48688094G>ACA123933GTF2A1L,LHCGR,STON1-GTF2A1Lc.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

Number of alleles fetched