| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237808913G>A | CA008220 | RYR2 | c.*5403G>A (n.*5403G>A) c.14293G>A (p.Val4765Ile) c.14332G>A (p.Val4778Ile) c.6482G>A c.14311G>A (p.Val4771Ile) c.14260G>A (p.Val4754Ile) n.822G>A c.14365G>A (p.Val4789Ile) c.14362G>A (p.Val4788Ile) c.14341G>A (p.Val4781Ile) c.14335G>A (p.Val4779Ile) c.14329G>A (p.Val4777Ile) c.14305G>A (p.Val4769Ile) c.14128G>A (p.Val4710Ile) c.14272G>A (p.Val4758Ile) c.14344G>A (p.Val4782Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237808913G>T | CA345424024 | RYR2 | c.*5403G>T (n.*5403G>T) c.14293G>T (p.Val4765Phe) c.14332G>T (p.Val4778Phe) c.6482G>T c.14311G>T (p.Val4771Phe) c.14260G>T (p.Val4754Phe) n.822G>T c.14365G>T (p.Val4789Phe) c.14362G>T (p.Val4788Phe) c.14341G>T (p.Val4781Phe) c.14335G>T (p.Val4779Phe) c.14329G>T (p.Val4777Phe) c.14305G>T (p.Val4769Phe) c.14128G>T (p.Val4710Phe) c.14272G>T (p.Val4758Phe) c.14344G>T (p.Val4782Phe) | ClinVar dbSNP |
| 1 | g.237808913G= | CA2487493376 | RYR2 | c.*5403G= (n.*5403G=) c.14293G= (p.Val4765=) c.14332G= (p.Val4778=) c.6482G= c.14311G= (p.Val4771=) c.14260G= (p.Val4754=) n.822G= c.14365G= (p.Val4789=) c.14362G= (p.Val4788=) c.14341G= (p.Val4781=) c.14335G= (p.Val4779=) c.14329G= (p.Val4777=) c.14305G= (p.Val4769=) c.14128G= (p.Val4710=) c.14272G= (p.Val4758=) c.14344G= (p.Val4782=) | dbSNP |