Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.37185445C>G | CA324042813 | C1QTNF6 | c.62G>C (p.Gly21Ala) n.3552G>C n.504G>C c.5G>C (p.Gly2Ala) | dbSNP |
22 | g.37185445C>A | CA10217035 | C1QTNF6 | c.62G>T (p.Gly21Val) n.3552G>T n.504G>T c.5G>T (p.Gly2Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |