Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.7135836A>G | CA6425223 | CLSTN3 | c.625A>G (p.Ser209Gly) c.661A>G (p.Ser221Gly) n.120A>G n.352A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7135836A>C | CA232472840 | CLSTN3 | c.625A>C (p.Ser209Arg) c.661A>C (p.Ser221Arg) n.120A>C n.352A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |