Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.103610714G>C | CA154914 | RELN | c.2989C>G (p.Leu997Val) n.2873C>G n.692C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.103610714G>T | CA368765606 | RELN | c.2989C>A (p.Leu997Ile) n.2873C>A n.692C>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.103610714G>A | CA4421890 | RELN | c.2989C>T (p.Leu997Phe) n.2873C>T n.692C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |