Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.98723927C>A | CA388596696 | SLC15A1 | c.350G>T (p.Ser117Ile) n.447G>T c.380G>T (p.Ser127Ile) | dbSNP |
13 | g.98723927C>T | CA7028346 | SLC15A1 | c.350G>A (p.Ser117Asn) n.447G>A c.380G>A (p.Ser127Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.98723927C>G | CA388596695 | SLC15A1 | c.350G>C (p.Ser117Thr) n.447G>C c.380G>C (p.Ser127Thr) | dbSNP |