Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.47325491C>A | CA5487969 | GDF2 | c.997C>A (p.Arg333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.47325491C>G | CA376657441 | GDF2 | c.997C>G (p.Arg333Gly) | dbSNP gnomAD v4 |
10 | g.47325491C>T | CA145272 | GDF2 | c.997C>T (p.Arg333Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |