| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490316G>T | CA344142 | AIP | c.623G>T c.457G>T (p.Glu153Ter) n.1158G>T c.469-681G>T (n.469-681G>T) c.277G>T (p.Glu93Ter) c.646G>T (p.Glu216Ter) c.469G>T (p.Glu157Ter) c.466G>T (p.Glu156Ter) c.298G>T (p.Glu100Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490316G>A | CA381551465 | AIP | c.623G>A c.457G>A (p.Glu153Lys) n.1158G>A c.469-681G>A (n.469-681G>A) c.277G>A (p.Glu93Lys) c.646G>A (p.Glu216Lys) c.469G>A (p.Glu157Lys) c.466G>A (p.Glu156Lys) c.298G>A (p.Glu100Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490316G= | CA1980172403 | AIP | c.623G= c.457G= (p.Glu153=) n.1158G= c.469-681G= (n.469-681G=) c.277G= (p.Glu93=) c.646G= (p.Glu216=) c.469G= (p.Glu157=) c.466G= (p.Glu156=) c.298G= (p.Glu100=) | dbSNP |