Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.169596108C>A | CA1234973 | SELP | c.1918G>T (p.Val640Leu) c.1732G>T (p.Val578Leu) c.1915G>T (p.Val639Leu) c.1366G>T (p.Val456Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169596108C>G | CA123171 | SELP | c.1918G>C (p.Val640Leu) c.1732G>C (p.Val578Leu) c.1915G>C (p.Val639Leu) c.1366G>C (p.Val456Leu) | ClinVar dbSNP |