Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38496466C>T | CA024643 | RYR1 | c.6721C>T (p.Arg2241Ter) c.6718C>T (p.Arg2240Ter) c.173C>T n.6804C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38496466C>G | CA068590 | RYR1 | c.6721C>G (p.Arg2241Gly) c.6718C>G (p.Arg2240Gly) c.173C>G n.6804C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |