Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.121940930C>G | CA354130116 | SLC15A2 | c.2113C>G (p.Arg705Gly) c.2020C>G (p.Arg674Gly) n.510C>G c.2008C>G (p.Arg670Gly) | dbSNP gnomAD v4 |
3 | g.121940930C>T | CA2568532 | SLC15A2 | c.2113C>T (p.Arg705Trp) c.2020C>T (p.Arg674Trp) n.510C>T c.2008C>T (p.Arg670Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |