| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41970405C>G | CA207845 | ATP1A3 | c.2440G>C (p.Asp814His) c.2401G>C (p.Asp801His) c.2434G>C (p.Asp812His) c.2311G>C (p.Asp771His) | ClinVar dbSNP |
| 19 | g.41970405C>A | CA341238 | ATP1A3 | c.2440G>T (p.Asp814Tyr) c.2401G>T (p.Asp801Tyr) c.2434G>T (p.Asp812Tyr) c.2311G>T (p.Asp771Tyr) | ClinVar dbSNP |
| 19 | g.41970405C>T | CA342902 | ATP1A3 | c.2440G>A (p.Asp814Asn) c.2401G>A (p.Asp801Asn) c.2434G>A (p.Asp812Asn) c.2311G>A (p.Asp771Asn) | ClinVar dbSNP COSMIC |