Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38446484G>A | CA024583 | RYR1 | c.644G>A (p.Gly215Glu) n.727G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38446484G>C | CA405679284 | RYR1 | c.644G>C (p.Gly215Ala) n.727G>C | dbSNP gnomAD v4 |
19 | g.38446484G= | CA2335027106 | RYR1 | c.644G= (p.Gly215=) n.727G= | dbSNP |