Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.139551220G>A | CA10529819 | F9 | c.679G>A (p.Val227Ile) n.1346G>A c.565G>A (p.Val189Ile) c.550G>A (p.Val184Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.139551220G>T | CA336137507 | F9 | c.679G>T (p.Val227Phe) n.1346G>T c.565G>T (p.Val189Phe) c.550G>T (p.Val184Phe) | dbSNP |