| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38502728G>A | CA16607795 | RYR1 | c.7835+1G>A (n.7835+1G>A) c.7832+1G>A (n.7832+1G>A) c.1287+1G>A n.7918+1G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.38502728G>T | CA405673142 | RYR1 | c.7835+1G>T (n.7835+1G>T) c.7832+1G>T (n.7832+1G>T) c.1287+1G>T n.7918+1G>T | dbSNP gnomAD v4 |
| 19 | g.38502728G>C | CA405673138 | RYR1 | c.7835+1G>C (n.7835+1G>C) c.7832+1G>C (n.7832+1G>C) c.1287+1G>C n.7918+1G>C | dbSNP gnomAD v4 |
| 19 | g.38502728G= | CA2335054455 | RYR1 | c.7835+1G= (n.7835+1G=) c.7832+1G= (n.7832+1G=) c.1287+1G= n.7918+1G= | dbSNP |