| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38584989T>C | CA024233 | RYR1 | c.1629T>C c.3026T>C c.2998T>C n.86T>C c.14693T>C (p.Ile4898Thr) c.14678T>C (p.Ile4893Thr) c.14675T>C (p.Ile4892Thr) c.14660T>C (p.Ile4887Thr) c.14690T>C (p.Ile4897Thr) c.14606T>C (p.Ile4869Thr) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38584989T>A | CA405690302 | RYR1 | c.1629T>A c.3026T>A c.2998T>A n.86T>A c.14693T>A (p.Ile4898Asn) c.14678T>A (p.Ile4893Asn) c.14675T>A (p.Ile4892Asn) c.14660T>A (p.Ile4887Asn) c.14690T>A (p.Ile4897Asn) c.14606T>A (p.Ile4869Asn) | ClinVar dbSNP |