| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.25699254G>T | CA16619626 | ATP8A2 | c.2283G>T (n.2283G>T) c.2293G>T (p.Asp765Tyr) n.2734G>T c.*1827G>T (n.*1827G>T) n.2733G>T n.2205G>T n.2358G>T c.2173G>T (p.Asp725Tyr) c.1711G>T (p.Asp571Tyr) c.1813G>T (p.Asp605Tyr) n.1164G>T c.1744G>T (p.Asp582Tyr) c.823G>T (p.Asp275Tyr) c.1699G>T (p.Asp567Tyr) | ClinVar dbSNP |
| 13 | g.25699254G>A | CA387680799 | ATP8A2 | c.2283G>A (n.2283G>A) c.2293G>A (p.Asp765Asn) n.2734G>A c.*1827G>A (n.*1827G>A) n.2733G>A n.2205G>A n.2358G>A c.2173G>A (p.Asp725Asn) c.1711G>A (p.Asp571Asn) c.1813G>A (p.Asp605Asn) n.1164G>A c.1744G>A (p.Asp582Asn) c.823G>A (p.Asp275Asn) c.1699G>A (p.Asp567Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |