Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.121447333G>C | CA16043411 | GJA1 | c.486G>C (p.Lys162Asn) | ClinVar dbSNP |
6 | g.121447333G>A | CA452134123 | GJA1 | c.486G>A (p.Lys162=) | dbSNP gnomAD v4 |
6 | g.121447333G= | CA1659501615 | GJA1 | c.486G= (p.Lys162=) | dbSNP |