Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38579995T>GCA405686849RYR1c.1314T>G
c.2711T>G
c.2683T>G
c.14378T>G (p.Leu4793Arg)
c.14363T>G (p.Leu4788Arg)
c.14360T>G (p.Leu4787Arg)
c.14345T>G (p.Leu4782Arg)
c.14375T>G (p.Leu4792Arg)
c.14291T>G (p.Leu4764Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38579995T>CCA024130RYR1c.1314T>C
c.2711T>C
c.2683T>C
c.14378T>C (p.Leu4793Pro)
c.14363T>C (p.Leu4788Pro)
c.14360T>C (p.Leu4787Pro)
c.14345T>C (p.Leu4782Pro)
c.14375T>C (p.Leu4792Pro)
c.14291T>C (p.Leu4764Pro)
ClinVar dbSNP

Number of alleles fetched