Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.132370067A>G | CA342615 | SLC22A5 | c.95A>G (p.Asn32Ser) n.229A>G n.364A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132370067A= | CA1583137645 | SLC22A5 | c.95A= (p.Asn32=) n.229A= n.364A= | dbSNP |
5 | g.132370067A>T | CA360802373 | SLC22A5 | c.95A>T (p.Asn32Ile) n.229A>T n.364A>T | dbSNP gnomAD v4 |