Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.50360780T>A | CA384809279 | FAM186A | c.559A>T (p.Lys187Ter) c.412+2365A>T (n.412+2365A>T) c.130A>T (p.Lys44Ter) | dbSNP gnomAD v4 |
12 | g.50360780T>G | CA6563439 | FAM186A | c.559A>C (p.Lys187Gln) c.412+2365A>C (n.412+2365A>C) c.130A>C (p.Lys44Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |