| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.113131068G>T | CA124199 | IL1RN | c.127G>T (p.Glu43Ter) c.122G>T (p.Ter41Leu) n.174G>T c.229G>T (p.Glu77Ter) c.238G>T (p.Glu80Ter) c.175G>T (p.Glu59Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113131068G= | CA1280072531 | IL1RN | c.127G= (p.Glu43=) c.122G= (p.Ter41=) n.174G= c.229G= (p.Glu77=) c.238G= (p.Glu80=) c.175G= (p.Glu59=) | dbSNP |
| 2 | g.113131068G>A | CA348295365 | IL1RN | c.127G>A (p.Glu43Lys) c.122G>A (p.Ter41=) n.174G>A c.229G>A (p.Glu77Lys) c.238G>A (p.Glu80Lys) c.175G>A (p.Glu59Lys) | dbSNP gnomAD v4 |