| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.38318446G>T | CA408870099 | BPI | c.646G>T (p.Glu216Ter) c.634G>T (p.Glu212Ter) c.43G>T (p.Glu15Ter) n.675G>T c.52G>T (p.Glu18Ter) | dbSNP |
| 20 | g.38318446G>C | CA408870095 | BPI | c.646G>C (p.Glu216Gln) c.634G>C (p.Glu212Gln) c.43G>C (p.Glu15Gln) n.675G>C c.52G>C (p.Glu18Gln) | dbSNP |
| 20 | g.38318446G>A | CA9852236 | BPI | c.646G>A (p.Glu216Lys) c.634G>A (p.Glu212Lys) c.43G>A (p.Glu15Lys) n.675G>A c.52G>A (p.Glu18Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.38318446G= | CA2362951552 | BPI | c.646G= (p.Glu216=) c.634G= (p.Glu212=) c.43G= (p.Glu15=) n.675G= c.52G= (p.Glu18=) | dbSNP |