| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38585055C>T | CA405690861 | RYR1 | c.1695C>T c.3092C>T c.3064C>T n.152C>T c.14759C>T (p.Thr4920Ile) c.14744C>T (p.Thr4915Ile) c.14741C>T (p.Thr4914Ile) c.14726C>T (p.Thr4909Ile) c.14756C>T (p.Thr4919Ile) c.14672C>T (p.Thr4891Ile) | ClinVar dbSNP |
| 19 | g.38585055C>A | CA024246 | RYR1 | c.1695C>A c.3092C>A c.3064C>A n.152C>A c.14759C>A (p.Thr4920Asn) c.14744C>A (p.Thr4915Asn) c.14741C>A (p.Thr4914Asn) c.14726C>A (p.Thr4909Asn) c.14756C>A (p.Thr4919Asn) c.14672C>A (p.Thr4891Asn) | ClinVar dbSNP |
| 19 | g.38585055C= | CA2335094985 | RYR1 | c.1695C= c.3092C= c.3064C= n.152C= c.14759C= (p.Thr4920=) c.14744C= (p.Thr4915=) c.14741C= (p.Thr4914=) c.14726C= (p.Thr4909=) c.14756C= (p.Thr4919=) c.14672C= (p.Thr4891=) | dbSNP |