| 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 |
| 19 | g.38584989T>G | CA405690306 | RYR1 | c.1629T>G c.3026T>G c.2998T>G n.86T>G c.14693T>G (p.Ile4898Ser) c.14678T>G (p.Ile4893Ser) c.14675T>G (p.Ile4892Ser) c.14660T>G (p.Ile4887Ser) c.14690T>G (p.Ile4897Ser) c.14606T>G (p.Ile4869Ser) | ClinVar dbSNP |
| 19 | g.38584989T= | CA2335094949 | RYR1 | c.1629T= c.3026T= c.2998T= n.86T= c.14693T= (p.Ile4898=) c.14678T= (p.Ile4893=) c.14675T= (p.Ile4892=) c.14660T= (p.Ile4887=) c.14690T= (p.Ile4897=) c.14606T= (p.Ile4869=) | dbSNP |