| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.105008835A>T | CA382276628 | CASP5 | c.153T>A (p.Asn51Lys) c.192T>A (p.Asn64Lys) c.8-5452T>A (n.8-5452T>A) c.8-1501T>A (n.8-1501T>A) c.105T>A (p.Asn35Lys) n.40-1501T>A n.40-6634T>A | dbSNP |
| 11 | g.105008835A>G | CA6257237 | CASP5 | c.153T>C (p.Asn51=) c.192T>C (p.Asn64=) c.8-5452T>C (n.8-5452T>C) c.8-1501T>C (n.8-1501T>C) c.105T>C (p.Asn35=) n.40-1501T>C n.40-6634T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |