| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490383G>A | CA344155 | AIP | c.690G>A c.524G>A (p.Cys175Tyr) n.1225G>A c.469-614G>A (n.469-614G>A) c.344G>A (p.Cys115Tyr) c.713G>A (p.Cys238Tyr) c.536G>A (p.Cys179Tyr) c.533G>A (p.Cys178Tyr) c.365G>A (p.Cys122Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490383G>T | CA381551725 | AIP | c.690G>T c.524G>T (p.Cys175Phe) n.1225G>T c.469-614G>T (n.469-614G>T) c.344G>T (p.Cys115Phe) c.713G>T (p.Cys238Phe) c.536G>T (p.Cys179Phe) c.533G>T (p.Cys178Phe) c.365G>T (p.Cys122Phe) | dbSNP gnomAD v4 |
| 11 | g.67490383G= | CA1980172435 | AIP | c.690G= c.524G= (p.Cys175=) n.1225G= c.469-614G= (n.469-614G=) c.344G= (p.Cys115=) c.713G= (p.Cys238=) c.536G= (p.Cys179=) c.533G= (p.Cys178=) c.365G= (p.Cys122=) | dbSNP |