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 |