Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.13596999A>C | CA2416317039 | EGFL6 | c.280+2071A>C (n.280+2071A>C) | dbSNP |
X | g.13596999A>T | CA1131161065 | EGFL6 | c.280+2071A>T (n.280+2071A>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.13596999A>G | CA326851763 | EGFL6 | c.280+2071A>G (n.280+2071A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |