| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22262162G>T | CA5923318 | ANO5 | c.1214G>T (p.Ser405Ile) c.1622G>T (p.Ser541Ile) n.2658G>T c.1619G>T (p.Ser540Ile) c.1664G>T (p.Ser555Ile) n.1999G>T c.1661G>T (p.Ser554Ile) c.1586G>T (p.Ser529Ile) c.1583G>T (p.Ser528Ile) c.1571G>T (p.Ser524Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22262162G>A | CA5923319 | ANO5 | c.1214G>A (p.Ser405Asn) c.1622G>A (p.Ser541Asn) n.2658G>A c.1619G>A (p.Ser540Asn) c.1664G>A (p.Ser555Asn) n.1999G>A c.1661G>A (p.Ser554Asn) c.1586G>A (p.Ser529Asn) c.1583G>A (p.Ser528Asn) c.1571G>A (p.Ser524Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |