| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38505400T>A | CA16043101 | RYR1 | c.8400+2T>A (n.8400+2T>A) c.8397+2T>A (n.8397+2T>A) c.1852+2T>A n.8483+2T>A | ClinVar dbSNP |
| 19 | g.38505400T>C | CA405677896 | RYR1 | c.8400+2T>C (n.8400+2T>C) c.8397+2T>C (n.8397+2T>C) c.1852+2T>C n.8483+2T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.38505400T= | CA2335056142 | RYR1 | c.8400+2T= (n.8400+2T=) c.8397+2T= (n.8397+2T=) c.1852+2T= n.8483+2T= | dbSNP |