| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580439C>G | CA405687798 | RYR1 | c.1517C>G c.2914C>G c.2886C>G c.14581C>G (p.Arg4861Gly) c.14566C>G (p.Arg4856Gly) c.14563C>G (p.Arg4855Gly) c.14548C>G (p.Arg4850Gly) c.14578C>G (p.Arg4860Gly) c.14494C>G (p.Arg4832Gly) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580439C>T | CA024185 | RYR1 | c.1517C>T c.2914C>T c.2886C>T c.14581C>T (p.Arg4861Cys) c.14566C>T (p.Arg4856Cys) c.14563C>T (p.Arg4855Cys) c.14548C>T (p.Arg4850Cys) c.14578C>T (p.Arg4860Cys) c.14494C>T (p.Arg4832Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580439C= | CA2335092480 | RYR1 | c.1517C= c.2914C= c.2886C= c.14581C= (p.Arg4861=) c.14566C= (p.Arg4856=) c.14563C= (p.Arg4855=) c.14548C= (p.Arg4850=) c.14578C= (p.Arg4860=) c.14494C= (p.Arg4832=) | dbSNP |
| 19 | g.38580439C>A | CA405687794 | RYR1 | c.1517C>A c.2914C>A c.2886C>A c.14581C>A (p.Arg4861Ser) c.14566C>A (p.Arg4856Ser) c.14563C>A (p.Arg4855Ser) c.14548C>A (p.Arg4850Ser) c.14578C>A (p.Arg4860Ser) c.14494C>A (p.Arg4832Ser) | ClinVar dbSNP |