| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21576638T>C | CA256925 | ALPL | c.1306T>C (p.Tyr436His) n.575T>C c.381T>C c.1075T>C (p.Tyr359His) c.1141T>C (p.Tyr381His) c.1150T>C (p.Tyr384His) | ClinVar dbSNP |
| 1 | g.21576638T= | CA1141580650 | ALPL | c.1306T= (p.Tyr436=) n.575T= c.381T= c.1075T= (p.Tyr359=) c.1141T= (p.Tyr381=) c.1150T= (p.Tyr384=) | dbSNP |