Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31870936G>T | CA363372210 | SLC44A4 | c.813C>A (p.Tyr271Ter) c.687C>A (p.Tyr229Ter) c.688+378C>A n.309C>A n.267C>A c.585C>A (p.Tyr195Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31870936G>A | CA3725579 | SLC44A4 | c.813C>T (p.Tyr271=) c.687C>T (p.Tyr229=) c.688+378C>T n.309C>T n.267C>T c.585C>T (p.Tyr195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |