Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.8535755C>T | CA10343564 | ANOS1 | c.1678G>A (p.Val560Ile) n.223G>A c.1675G>A (p.Val559Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8535755C>A | CA326051998 | ANOS1 | c.1678G>T (p.Val560Phe) n.223G>T c.1675G>T (p.Val559Phe) | dbSNP |