| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580112C>A | CA16607807 | RYR1 | c.1431C>A c.2828C>A c.2800C>A c.14495C>A (p.Thr4832Asn) c.14480C>A (p.Thr4827Asn) c.14477C>A (p.Thr4826Asn) c.14462C>A (p.Thr4821Asn) c.14492C>A (p.Thr4831Asn) c.14408C>A (p.Thr4803Asn) | ClinVar dbSNP |
| 19 | g.38580112C>T | CA405687398 | RYR1 | c.1431C>T c.2828C>T c.2800C>T c.14495C>T (p.Thr4832Ile) c.14480C>T (p.Thr4827Ile) c.14477C>T (p.Thr4826Ile) c.14462C>T (p.Thr4821Ile) c.14492C>T (p.Thr4831Ile) c.14408C>T (p.Thr4803Ile) | dbSNP |
| 19 | g.38580112C>G | CA405687400 | RYR1 | c.1431C>G c.2828C>G c.2800C>G c.14495C>G (p.Thr4832Ser) c.14480C>G (p.Thr4827Ser) c.14477C>G (p.Thr4826Ser) c.14462C>G (p.Thr4821Ser) c.14492C>G (p.Thr4831Ser) c.14408C>G (p.Thr4803Ser) | dbSNP gnomAD v4 |
| 19 | g.38580112C= | CA2335092306 | RYR1 | c.1431C= c.2828C= c.2800C= c.14495C= (p.Thr4832=) c.14480C= (p.Thr4827=) c.14477C= (p.Thr4826=) c.14462C= (p.Thr4821=) c.14492C= (p.Thr4831=) c.14408C= (p.Thr4803=) | dbSNP |