Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.237103303A>T | CA2487195392 | RYR2 | c.48+60734A>T (n.48+60734A>T) n.329+60734A>T n.362+60734A>T | dbSNP |
1 | g.237103303A>G | CA10707271 | RYR2 | c.48+60734A>G (n.48+60734A>G) n.329+60734A>G n.362+60734A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |