Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60841719A>C | CA371318727 | CHD7 | c.4609A>C (p.Lys1537Gln) c.1717-20510A>C (n.1717-20510A>C) c.2596A>C (p.Lys866Gln) c.2146A>C (p.Lys716Gln) c.1354A>C (p.Lys452Gln) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60841719A>T | CA16605402 | CHD7 | c.4609A>T (p.Lys1537Ter) c.1717-20510A>T (n.1717-20510A>T) c.2596A>T (p.Lys866Ter) c.2146A>T (p.Lys716Ter) c.1354A>T (p.Lys452Ter) | ClinVar dbSNP |