Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177386492G>T | CA3580394 | SLC34A1 | c.458G>T (p.Gly153Val) n.542G>T n.505G>T n.559G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177386492G>A | CA362364144 | SLC34A1 | c.458G>A (p.Gly153Glu) n.542G>A n.505G>A n.559G>A | dbSNP |
5 | g.177386492G>C | CA10581121 | SLC34A1 | c.458G>C (p.Gly153Ala) n.542G>C n.505G>C n.559G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |