| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38579995T>G | CA405686849 | RYR1 | c.1314T>G c.2711T>G c.2683T>G c.14378T>G (p.Leu4793Arg) c.14363T>G (p.Leu4788Arg) c.14360T>G (p.Leu4787Arg) c.14345T>G (p.Leu4782Arg) c.14375T>G (p.Leu4792Arg) c.14291T>G (p.Leu4764Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38579995T>C | CA024130 | RYR1 | c.1314T>C c.2711T>C c.2683T>C c.14378T>C (p.Leu4793Pro) c.14363T>C (p.Leu4788Pro) c.14360T>C (p.Leu4787Pro) c.14345T>C (p.Leu4782Pro) c.14375T>C (p.Leu4792Pro) c.14291T>C (p.Leu4764Pro) | ClinVar dbSNP |
| 19 | g.38579995T= | CA2335092251 | RYR1 | c.1314T= c.2711T= c.2683T= c.14378T= (p.Leu4793=) c.14363T= (p.Leu4788=) c.14360T= (p.Leu4787=) c.14345T= (p.Leu4782=) c.14375T= (p.Leu4792=) c.14291T= (p.Leu4764=) | dbSNP dbSNP |