Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.228157866C>T | CA1430801 | GJC2 | c.108C>T (p.Ile36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228157866C>A | CA423546356 | GJC2 | c.108C>A (p.Ile36=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.228157866C>G | CA115336 | GJC2 | c.108C>G (p.Ile36Met) | ClinVar dbSNP |
1 | g.228157866C= | CA1140944771 | GJC2 | c.108C= (p.Ile36=) | dbSNP |