| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38570650T>G | CA405678840 | RYR1 | c.639T>G c.2036T>G c.2052-1369T>G c.13703T>G (p.Leu4568Arg) c.13688T>G (p.Leu4563Arg) c.13685T>G (p.Leu4562Arg) c.207-1369T>G c.13670T>G (p.Leu4557Arg) c.13700T>G (p.Leu4567Arg) c.13660-1369T>G (n.13660-1369T>G) | ClinVar dbSNP |
| 19 | g.38570650T>C | CA024069 | RYR1 | c.639T>C c.2036T>C c.2052-1369T>C c.13703T>C (p.Leu4568Pro) c.13688T>C (p.Leu4563Pro) c.13685T>C (p.Leu4562Pro) c.207-1369T>C c.13670T>C (p.Leu4557Pro) c.13700T>C (p.Leu4567Pro) c.13660-1369T>C (n.13660-1369T>C) | ClinVar dbSNP |
| 19 | g.38570650T= | CA2335087726 | RYR1 | c.639T= c.2036T= c.2052-1369T= c.13703T= (p.Leu4568=) c.13688T= (p.Leu4563=) c.13685T= (p.Leu4562=) c.207-1369T= c.13670T= (p.Leu4557=) c.13700T= (p.Leu4567=) c.13660-1369T= (n.13660-1369T=) | dbSNP |