Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38543300C=CA2335074273RYR1c.100-47C=
c.82-47C=
c.11690-47C= (n.11690-47C=)
c.11675-47C= (n.11675-47C=)
c.11672-47C= (n.11672-47C=)
c.299-47C=
c.5059-47C=
c.11657-47C= (n.11657-47C=)
c.11687-47C= (n.11687-47C=)
19g.38543300C>TCA308091889RYR1c.100-47C>T
c.82-47C>T
c.11690-47C>T (n.11690-47C>T)
c.11675-47C>T (n.11675-47C>T)
c.11672-47C>T (n.11672-47C>T)
c.299-47C>T
c.5059-47C>T
c.11657-47C>T (n.11657-47C>T)
c.11687-47C>T (n.11687-47C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543301C=CA2335074274RYR1c.100-46C=
c.82-46C=
c.11690-46C= (n.11690-46C=)
c.11675-46C= (n.11675-46C=)
c.11672-46C= (n.11672-46C=)
c.299-46C=
c.5059-46C=
c.11657-46C= (n.11657-46C=)
c.11687-46C= (n.11687-46C=)
19g.38543301C>TCA057519RYR1c.100-46C>T
c.82-46C>T
c.11690-46C>T (n.11690-46C>T)
c.11675-46C>T (n.11675-46C>T)
c.11672-46C>T (n.11672-46C>T)
c.299-46C>T
c.5059-46C>T
c.11657-46C>T (n.11657-46C>T)
c.11687-46C>T (n.11687-46C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543302C>ACA2584908072RYR1c.100-45C>A
c.82-45C>A
c.11690-45C>A (n.11690-45C>A)
c.11675-45C>A (n.11675-45C>A)
c.11672-45C>A (n.11672-45C>A)
c.299-45C>A
c.5059-45C>A
c.11657-45C>A (n.11657-45C>A)
c.11687-45C>A (n.11687-45C>A)
 gnomAD v4
19g.38543302C=CA2335074275RYR1c.100-45C=
c.82-45C=
c.11690-45C= (n.11690-45C=)
c.11675-45C= (n.11675-45C=)
c.11672-45C= (n.11672-45C=)
c.299-45C=
c.5059-45C=
c.11657-45C= (n.11657-45C=)
c.11687-45C= (n.11687-45C=)
19g.38543302C>TCA633066738RYR1c.100-45C>T
c.82-45C>T
c.11690-45C>T (n.11690-45C>T)
c.11675-45C>T (n.11675-45C>T)
c.11672-45C>T (n.11672-45C>T)
c.299-45C>T
c.5059-45C>T
c.11657-45C>T (n.11657-45C>T)
c.11687-45C>T (n.11687-45C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.38543305G>ACA2584908074RYR1c.100-42G>A
c.82-42G>A
c.11690-42G>A (n.11690-42G>A)
c.11675-42G>A (n.11675-42G>A)
c.11672-42G>A (n.11672-42G>A)
c.299-42G>A
c.5059-42G>A
c.11657-42G>A (n.11657-42G>A)
c.11687-42G>A (n.11687-42G>A)
 gnomAD v4
19g.38543305G>CCA2584908073RYR1c.100-42G>C
c.82-42G>C
c.11690-42G>C (n.11690-42G>C)
c.11675-42G>C (n.11675-42G>C)
c.11672-42G>C (n.11672-42G>C)
c.299-42G>C
c.5059-42G>C
c.11657-42G>C (n.11657-42G>C)
c.11687-42G>C (n.11687-42G>C)
 gnomAD v4
19g.38543306C>ACA633066739RYR1c.100-41C>A
c.82-41C>A
c.11690-41C>A (n.11690-41C>A)
c.11675-41C>A (n.11675-41C>A)
c.11672-41C>A (n.11672-41C>A)
c.299-41C>A
c.5059-41C>A
c.11657-41C>A (n.11657-41C>A)
c.11687-41C>A (n.11687-41C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.38543306C=CA2335074276RYR1c.100-41C=
c.82-41C=
c.11690-41C= (n.11690-41C=)
c.11675-41C= (n.11675-41C=)
c.11672-41C= (n.11672-41C=)
c.299-41C=
c.5059-41C=
c.11657-41C= (n.11657-41C=)
c.11687-41C= (n.11687-41C=)
19g.38543306C>TCA633066740RYR1c.100-41C>T
c.82-41C>T
c.11690-41C>T (n.11690-41C>T)
c.11675-41C>T (n.11675-41C>T)
c.11672-41C>T (n.11672-41C>T)
c.299-41C>T
c.5059-41C>T
c.11657-41C>T (n.11657-41C>T)
c.11687-41C>T (n.11687-41C>T)
 dbSNP gnomAD v2
19g.38543308C>TCA657534943RYR1c.100-39C>T
c.82-39C>T
c.11690-39C>T (n.11690-39C>T)
c.11675-39C>T (n.11675-39C>T)
c.11672-39C>T (n.11672-39C>T)
c.299-39C>T
c.5059-39C>T
c.11657-39C>T (n.11657-39C>T)
c.11687-39C>T (n.11687-39C>T)
 gnomAD v4 COSMIC
19g.38543309A=CA2335074277RYR1c.100-38A=
c.82-38A=
c.11690-38A= (n.11690-38A=)
c.11675-38A= (n.11675-38A=)
c.11672-38A= (n.11672-38A=)
c.299-38A=
c.5059-38A=
c.11657-38A= (n.11657-38A=)
c.11687-38A= (n.11687-38A=)
19g.38543309A>GCA057511RYR1c.100-38A>G
c.82-38A>G
c.11690-38A>G (n.11690-38A>G)
c.11675-38A>G (n.11675-38A>G)
c.11672-38A>G (n.11672-38A>G)
c.299-38A>G
c.5059-38A>G
c.11657-38A>G (n.11657-38A>G)
c.11687-38A>G (n.11687-38A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543310T>CCA057509RYR1c.100-37T>C
c.82-37T>C
c.11690-37T>C (n.11690-37T>C)
c.11675-37T>C (n.11675-37T>C)
c.11672-37T>C (n.11672-37T>C)
c.299-37T>C
c.5059-37T>C
c.11657-37T>C (n.11657-37T>C)
c.11687-37T>C (n.11687-37T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543310T=CA2335074278RYR1c.100-37T=
c.82-37T=
c.11690-37T= (n.11690-37T=)
c.11675-37T= (n.11675-37T=)
c.11672-37T= (n.11672-37T=)
c.299-37T=
c.5059-37T=
c.11657-37T= (n.11657-37T=)
c.11687-37T= (n.11687-37T=)
19g.38543311G=CA2335074279RYR1c.100-36G=
c.82-36G=
c.11690-36G= (n.11690-36G=)
c.11675-36G= (n.11675-36G=)
c.11672-36G= (n.11672-36G=)
c.299-36G=
c.5059-36G=
c.11657-36G= (n.11657-36G=)
c.11687-36G= (n.11687-36G=)
19g.38543311G>TCA633066741RYR1c.100-36G>T
c.82-36G>T
c.11690-36G>T (n.11690-36G>T)
c.11675-36G>T (n.11675-36G>T)
c.11672-36G>T (n.11672-36G>T)
c.299-36G>T
c.5059-36G>T
c.11657-36G>T (n.11657-36G>T)
c.11687-36G>T (n.11687-36G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.38543312G>ACA2584908075RYR1c.100-35G>A
c.82-35G>A
c.11690-35G>A (n.11690-35G>A)
c.11675-35G>A (n.11675-35G>A)
c.11672-35G>A (n.11672-35G>A)
c.299-35G>A
c.5059-35G>A
c.11657-35G>A (n.11657-35G>A)
c.11687-35G>A (n.11687-35G>A)
 gnomAD v4
19g.38543312G>CCA057505RYR1c.100-35G>C
c.82-35G>C
c.11690-35G>C (n.11690-35G>C)
c.11675-35G>C (n.11675-35G>C)
c.11672-35G>C (n.11672-35G>C)
c.299-35G>C
c.5059-35G>C
c.11657-35G>C (n.11657-35G>C)
c.11687-35G>C (n.11687-35G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543312G=CA2335074280RYR1c.100-35G=
c.82-35G=
c.11690-35G= (n.11690-35G=)
c.11675-35G= (n.11675-35G=)
c.11672-35G= (n.11672-35G=)
c.299-35G=
c.5059-35G=
c.11657-35G= (n.11657-35G=)
c.11687-35G= (n.11687-35G=)
19g.38543313G>ACA057499RYR1c.100-34G>A
c.82-34G>A
c.11690-34G>A (n.11690-34G>A)
c.11675-34G>A (n.11675-34G>A)
c.11672-34G>A (n.11672-34G>A)
c.299-34G>A
c.5059-34G>A
c.11657-34G>A (n.11657-34G>A)
c.11687-34G>A (n.11687-34G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543313G>CCA2584908076RYR1c.100-34G>C
c.82-34G>C
c.11690-34G>C (n.11690-34G>C)
c.11675-34G>C (n.11675-34G>C)
c.11672-34G>C (n.11672-34G>C)
c.299-34G>C
c.5059-34G>C
c.11657-34G>C (n.11657-34G>C)
c.11687-34G>C (n.11687-34G>C)
 gnomAD v4
19g.38543313G=CA2335074281RYR1c.100-34G=
c.82-34G=
c.11690-34G= (n.11690-34G=)
c.11675-34G= (n.11675-34G=)
c.11672-34G= (n.11672-34G=)
c.299-34G=
c.5059-34G=
c.11657-34G= (n.11657-34G=)
c.11687-34G= (n.11687-34G=)
19g.38543314A=CA2335074282RYR1c.100-33A=
c.82-33A=
c.11690-33A= (n.11690-33A=)
c.11675-33A= (n.11675-33A=)
c.11672-33A= (n.11672-33A=)
c.299-33A=
c.5059-33A=
c.11657-33A= (n.11657-33A=)
c.11687-33A= (n.11687-33A=)
19g.38543314A>GCA633066742RYR1c.100-33A>G
c.82-33A>G
c.11690-33A>G (n.11690-33A>G)
c.11675-33A>G (n.11675-33A>G)
c.11672-33A>G (n.11672-33A>G)
c.299-33A>G
c.5059-33A>G
c.11657-33A>G (n.11657-33A>G)
c.11687-33A>G (n.11687-33A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543315G>ACA633066743RYR1c.100-32G>A
c.82-32G>A
c.11690-32G>A (n.11690-32G>A)
c.11675-32G>A (n.11675-32G>A)
c.11672-32G>A (n.11672-32G>A)
c.299-32G>A
c.5059-32G>A
c.11657-32G>A (n.11657-32G>A)
c.11687-32G>A (n.11687-32G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.38543315G>CCA080404RYR1c.100-32G>C
c.82-32G>C
c.11690-32G>C (n.11690-32G>C)
c.11675-32G>C (n.11675-32G>C)
c.11672-32G>C (n.11672-32G>C)
c.299-32G>C
c.5059-32G>C
c.11657-32G>C (n.11657-32G>C)
c.11687-32G>C (n.11687-32G>C)
19g.38543315G=CA2335074283RYR1c.100-32G=
c.82-32G=
c.11690-32G= (n.11690-32G=)
c.11675-32G= (n.11675-32G=)
c.11672-32G= (n.11672-32G=)
c.299-32G=
c.5059-32G=
c.11657-32G= (n.11657-32G=)
c.11687-32G= (n.11687-32G=)
19g.38543316G>ACA057498RYR1c.100-31G>A
c.82-31G>A
c.11690-31G>A (n.11690-31G>A)
c.11675-31G>A (n.11675-31G>A)
c.11672-31G>A (n.11672-31G>A)
c.299-31G>A
c.5059-31G>A
c.11657-31G>A (n.11657-31G>A)
c.11687-31G>A (n.11687-31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543316G=CA2335074284RYR1c.100-31G=
c.82-31G=
c.11690-31G= (n.11690-31G=)
c.11675-31G= (n.11675-31G=)
c.11672-31G= (n.11672-31G=)
c.299-31G=
c.5059-31G=
c.11657-31G= (n.11657-31G=)
c.11687-31G= (n.11687-31G=)
19g.38543316G>TCA633066744RYR1c.100-31G>T
c.82-31G>T
c.11690-31G>T (n.11690-31G>T)
c.11675-31G>T (n.11675-31G>T)
c.11672-31G>T (n.11672-31G>T)
c.299-31G>T
c.5059-31G>T
c.11657-31G>T (n.11657-31G>T)
c.11687-31G>T (n.11687-31G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.38543317T>ACA308091923RYR1c.100-30T>A
c.82-30T>A
c.11690-30T>A (n.11690-30T>A)
c.11675-30T>A (n.11675-30T>A)
c.11672-30T>A (n.11672-30T>A)
c.299-30T>A
c.5059-30T>A
c.11657-30T>A (n.11657-30T>A)
c.11687-30T>A (n.11687-30T>A)
 dbSNP gnomAD v4
19g.38543317T=CA2335074285RYR1c.100-30T=
c.82-30T=
c.11690-30T= (n.11690-30T=)
c.11675-30T= (n.11675-30T=)
c.11672-30T= (n.11672-30T=)
c.299-30T=
c.5059-30T=
c.11657-30T= (n.11657-30T=)
c.11687-30T= (n.11687-30T=)
19g.38543318G>ACA2576804828RYR1c.100-29G>A
c.82-29G>A
c.11690-29G>A (n.11690-29G>A)
c.11675-29G>A (n.11675-29G>A)
c.11672-29G>A (n.11672-29G>A)
c.299-29G>A
c.5059-29G>A
c.11657-29G>A (n.11657-29G>A)
c.11687-29G>A (n.11687-29G>A)
19g.38543318G=CA2335074286RYR1c.100-29G=
c.82-29G=
c.11690-29G= (n.11690-29G=)
c.11675-29G= (n.11675-29G=)
c.11672-29G= (n.11672-29G=)
c.299-29G=
c.5059-29G=
c.11657-29G= (n.11657-29G=)
c.11687-29G= (n.11687-29G=)
19g.38543318G>TCA057496RYR1c.100-29G>T
c.82-29G>T
c.11690-29G>T (n.11690-29G>T)
c.11675-29G>T (n.11675-29G>T)
c.11672-29G>T (n.11672-29G>T)
c.299-29G>T
c.5059-29G>T
c.11657-29G>T (n.11657-29G>T)
c.11687-29G>T (n.11687-29G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543319C>TCA2814346115RYR1c.100-28C>T
c.82-28C>T
c.11690-28C>T (n.11690-28C>T)
c.11675-28C>T (n.11675-28C>T)
c.11672-28C>T (n.11672-28C>T)
c.299-28C>T
c.5059-28C>T
c.11657-28C>T (n.11657-28C>T)
c.11687-28C>T (n.11687-28C>T)
19g.38543321G>ACA2584908077RYR1c.100-26G>A
c.82-26G>A
c.11690-26G>A (n.11690-26G>A)
c.11675-26G>A (n.11675-26G>A)
c.11672-26G>A (n.11672-26G>A)
c.299-26G>A
c.5059-26G>A
c.11657-26G>A (n.11657-26G>A)
c.11687-26G>A (n.11687-26G>A)
 gnomAD v4
19g.38543321G>TCA080402RYR1c.100-26G>T
c.82-26G>T
c.11690-26G>T (n.11690-26G>T)
c.11675-26G>T (n.11675-26G>T)
c.11672-26G>T (n.11672-26G>T)
c.299-26G>T
c.5059-26G>T
c.11657-26G>T (n.11657-26G>T)
c.11687-26G>T (n.11687-26G>T)
19g.38543323A=CA2335074287RYR1c.100-24A=
c.82-24A=
c.11690-24A= (n.11690-24A=)
c.11675-24A= (n.11675-24A=)
c.11672-24A= (n.11672-24A=)
c.299-24A=
c.5059-24A=
c.11657-24A= (n.11657-24A=)
c.11687-24A= (n.11687-24A=)
19g.38543323A>GCA882060482RYR1c.100-24A>G
c.82-24A>G
c.11690-24A>G (n.11690-24A>G)
c.11675-24A>G (n.11675-24A>G)
c.11672-24A>G (n.11672-24A>G)
c.299-24A>G
c.5059-24A>G
c.11657-24A>G (n.11657-24A>G)
c.11687-24A>G (n.11687-24A>G)
 dbSNP gnomAD v3 gnomAD v4
19g.38543324T>CCA057491RYR1c.100-23T>C
c.82-23T>C
c.11690-23T>C (n.11690-23T>C)
c.11675-23T>C (n.11675-23T>C)
c.11672-23T>C (n.11672-23T>C)
c.299-23T>C
c.5059-23T>C
c.11657-23T>C (n.11657-23T>C)
c.11687-23T>C (n.11687-23T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543324T=CA2335074288RYR1c.100-23T=
c.82-23T=
c.11690-23T= (n.11690-23T=)
c.11675-23T= (n.11675-23T=)
c.11672-23T= (n.11672-23T=)
c.299-23T=
c.5059-23T=
c.11657-23T= (n.11657-23T=)
c.11687-23T= (n.11687-23T=)
19g.38543327A=CA2335074289RYR1c.100-20A=
c.82-20A=
c.11690-20A= (n.11690-20A=)
c.11675-20A= (n.11675-20A=)
c.11672-20A= (n.11672-20A=)
c.299-20A=
c.5059-20A=
c.11657-20A= (n.11657-20A=)
c.11687-20A= (n.11687-20A=)
19g.38543327A>GCA057486RYR1c.100-20A>G
c.82-20A>G
c.11690-20A>G (n.11690-20A>G)
c.11675-20A>G (n.11675-20A>G)
c.11672-20A>G (n.11672-20A>G)
c.299-20A>G
c.5059-20A>G
c.11657-20A>G (n.11657-20A>G)
c.11687-20A>G (n.11687-20A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543329G>ACA633066745RYR1c.100-18G>A
c.82-18G>A
c.11690-18G>A (n.11690-18G>A)
c.11675-18G>A (n.11675-18G>A)
c.11672-18G>A (n.11672-18G>A)
c.299-18G>A
c.5059-18G>A
c.11657-18G>A (n.11657-18G>A)
c.11687-18G>A (n.11687-18G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38543329G=CA2335074290RYR1c.100-18G=
c.82-18G=
c.11690-18G= (n.11690-18G=)
c.11675-18G= (n.11675-18G=)
c.11672-18G= (n.11672-18G=)
c.299-18G=
c.5059-18G=
c.11657-18G= (n.11657-18G=)
c.11687-18G= (n.11687-18G=)
19g.38543330A>GCA080400RYR1c.100-17A>G
c.82-17A>G
c.11690-17A>G (n.11690-17A>G)
c.11675-17A>G (n.11675-17A>G)
c.11672-17A>G (n.11672-17A>G)
c.299-17A>G
c.5059-17A>G
c.11657-17A>G (n.11657-17A>G)
c.11687-17A>G (n.11687-17A>G)
19g.38543331C>ACA2335074293RYR1c.100-16C>A
c.82-16C>A
c.11690-16C>A (n.11690-16C>A)
c.11675-16C>A (n.11675-16C>A)
c.11672-16C>A (n.11672-16C>A)
c.299-16C>A
c.5059-16C>A
c.11657-16C>A (n.11657-16C>A)
c.11687-16C>A (n.11687-16C>A)
 dbSNP
19g.38543331C=CA2335074292RYR1c.100-16C=
c.82-16C=
c.11690-16C= (n.11690-16C=)
c.11675-16C= (n.11675-16C=)
c.11672-16C= (n.11672-16C=)
c.299-16C=
c.5059-16C=
c.11657-16C= (n.11657-16C=)
c.11687-16C= (n.11687-16C=)
19g.38543331C>TCA2335074294RYR1c.100-16C>T
c.82-16C>T
c.11690-16C>T (n.11690-16C>T)
c.11675-16C>T (n.11675-16C>T)
c.11672-16C>T (n.11672-16C>T)
c.299-16C>T
c.5059-16C>T
c.11657-16C>T (n.11657-16C>T)
c.11687-16C>T (n.11687-16C>T)
 dbSNP gnomAD v4
19g.38543331_38543333delinsCTTCA2335074291RYR1c.100-16_100-14delinsCTT
c.82-16_82-14delinsCTT
c.11690-16_11690-14delinsCTT (n.11690-16_11690-14delinsCTT)
c.11675-16_11675-14delinsCTT (n.11675-16_11675-14delinsCTT)
c.11672-16_11672-14delinsCTT (n.11672-16_11672-14delinsCTT)
c.299-16_299-14delinsCTT
c.5059-16_5059-14delinsCTT
c.11657-16_11657-14delinsCTT (n.11657-16_11657-14delinsCTT)
c.11687-16_11687-14delinsCTT (n.11687-16_11687-14delinsCTT)
19g.38543334_38543335delCA057483RYR1c.100-13_100-12del
c.82-13_82-12del
c.11690-13_11690-12del (n.11690-13_11690-12del)
c.11675-13_11675-12del (n.11675-13_11675-12del)
c.11672-13_11672-12del (n.11672-13_11672-12del)
c.299-13_299-12del
c.5059-13_5059-12del
c.11657-13_11657-12del (n.11657-13_11657-12del)
c.11687-13_11687-12del (n.11687-13_11687-12del)
 dbSNP ExAC
19g.38543333T>CCA2814346118RYR1c.100-14T>C
c.82-14T>C
c.11690-14T>C (n.11690-14T>C)
c.11675-14T>C (n.11675-14T>C)
c.11672-14T>C (n.11672-14T>C)
c.299-14T>C
c.5059-14T>C
c.11657-14T>C (n.11657-14T>C)
c.11687-14T>C (n.11687-14T>C)
19g.38543334T>CCA2584908078RYR1c.100-13T>C
c.82-13T>C
c.11690-13T>C (n.11690-13T>C)
c.11675-13T>C (n.11675-13T>C)
c.11672-13T>C (n.11672-13T>C)
c.299-13T>C
c.5059-13T>C
c.11657-13T>C (n.11657-13T>C)
c.11687-13T>C (n.11687-13T>C)
 gnomAD v4
19g.38543335T=CA2335074295RYR1c.100-12T=
c.82-12T=
c.11690-12T= (n.11690-12T=)
c.11675-12T= (n.11675-12T=)
c.11672-12T= (n.11672-12T=)
c.299-12T=
c.5059-12T=
c.11657-12T= (n.11657-12T=)
c.11687-12T= (n.11687-12T=)
19g.38543336C>ACA633066747RYR1c.100-11C>A
c.82-11C>A
c.11690-11C>A (n.11690-11C>A)
c.11675-11C>A (n.11675-11C>A)
c.11672-11C>A (n.11672-11C>A)
c.299-11C>A
c.5059-11C>A
c.11657-11C>A (n.11657-11C>A)
c.11687-11C>A (n.11687-11C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38543336C=CA2335074296RYR1c.100-11C=
c.82-11C=
c.11690-11C= (n.11690-11C=)
c.11675-11C= (n.11675-11C=)
c.11672-11C= (n.11672-11C=)
c.299-11C=
c.5059-11C=
c.11657-11C= (n.11657-11C=)
c.11687-11C= (n.11687-11C=)
19g.38543336C>TCA2814346122RYR1c.100-11C>T
c.82-11C>T
c.11690-11C>T (n.11690-11C>T)
c.11675-11C>T (n.11675-11C>T)
c.11672-11C>T (n.11672-11C>T)
c.299-11C>T
c.5059-11C>T
c.11657-11C>T (n.11657-11C>T)
c.11687-11C>T (n.11687-11C>T)
19g.38543336dupCA633066746RYR1c.100-11dup
c.82-11dup
c.11690-11dup (n.11690-11dup)
c.11675-11dup (n.11675-11dup)
c.11672-11dup (n.11672-11dup)
c.299-11dup
c.5059-11dup
c.11657-11dup (n.11657-11dup)
c.11687-11dup (n.11687-11dup)
 dbSNP gnomAD v2 gnomAD v4
19g.38543339C>ACA2697556578RYR1c.100-8C>A
c.82-8C>A
c.11690-8C>A (n.11690-8C>A)
c.11675-8C>A (n.11675-8C>A)
c.11672-8C>A (n.11672-8C>A)
c.299-8C>A
c.5059-8C>A
c.11657-8C>A (n.11657-8C>A)
c.11687-8C>A (n.11687-8C>A)
 ClinVar
19g.38543339C=CA2335074297RYR1c.100-8C=
c.82-8C=
c.11690-8C= (n.11690-8C=)
c.11675-8C= (n.11675-8C=)
c.11672-8C= (n.11672-8C=)
c.299-8C=
c.5059-8C=
c.11657-8C= (n.11657-8C=)
c.11687-8C= (n.11687-8C=)
19g.38543339C>GCA633066748RYR1c.100-8C>G
c.82-8C>G
c.11690-8C>G (n.11690-8C>G)
c.11675-8C>G (n.11675-8C>G)
c.11672-8C>G (n.11672-8C>G)
c.299-8C>G
c.5059-8C>G
c.11657-8C>G (n.11657-8C>G)
c.11687-8C>G (n.11687-8C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.38543341C>ACA2584908080RYR1c.100-6C>A
c.82-6C>A
c.11690-6C>A (n.11690-6C>A)
c.11675-6C>A (n.11675-6C>A)
c.11672-6C>A (n.11672-6C>A)
c.299-6C>A
c.5059-6C>A
c.11657-6C>A (n.11657-6C>A)
c.11687-6C>A (n.11687-6C>A)
 gnomAD v4
19g.38543344delCA2584908079RYR1c.100-3del
c.82-3del
c.11690-3del (n.11690-3del)
c.11675-3del (n.11675-3del)
c.11672-3del (n.11672-3del)
c.299-3del
c.5059-3del
c.11657-3del (n.11657-3del)
c.11687-3del (n.11687-3del)
 ClinVar gnomAD v4
19g.38543342C=CA2335074298RYR1c.100-5C=
c.82-5C=
c.11690-5C= (n.11690-5C=)
c.11675-5C= (n.11675-5C=)
c.11672-5C= (n.11672-5C=)
c.299-5C=
c.5059-5C=
c.11657-5C= (n.11657-5C=)
c.11687-5C= (n.11687-5C=)
19g.38543342C>GCA057523RYR1c.100-5C>G
c.82-5C>G
c.11690-5C>G (n.11690-5C>G)
c.11675-5C>G (n.11675-5C>G)
c.11672-5C>G (n.11672-5C>G)
c.299-5C>G
c.5059-5C>G
c.11657-5C>G (n.11657-5C>G)
c.11687-5C>G (n.11687-5C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543343C=CA2335074299RYR1c.100-4C=
c.82-4C=
c.11690-4C= (n.11690-4C=)
c.11675-4C= (n.11675-4C=)
c.11672-4C= (n.11672-4C=)
c.299-4C=
c.5059-4C=
c.11657-4C= (n.11657-4C=)
c.11687-4C= (n.11687-4C=)
19g.38543343C>GCA995728661RYR1c.100-4C>G
c.82-4C>G
c.11690-4C>G (n.11690-4C>G)
c.11675-4C>G (n.11675-4C>G)
c.11672-4C>G (n.11672-4C>G)
c.299-4C>G
c.5059-4C>G
c.11657-4C>G (n.11657-4C>G)
c.11687-4C>G (n.11687-4C>G)
 dbSNP gnomAD v3 gnomAD v4
19g.38543344C=CA2335074300RYR1c.100-3C=
c.82-3C=
c.11690-3C= (n.11690-3C=)
c.11675-3C= (n.11675-3C=)
c.11672-3C= (n.11672-3C=)
c.299-3C=
c.5059-3C=
c.11657-3C= (n.11657-3C=)
c.11687-3C= (n.11687-3C=)
19g.38543344C>GCA2584908081RYR1c.100-3C>G
c.82-3C>G
c.11690-3C>G (n.11690-3C>G)
c.11675-3C>G (n.11675-3C>G)
c.11672-3C>G (n.11672-3C>G)
c.299-3C>G
c.5059-3C>G
c.11657-3C>G (n.11657-3C>G)
c.11687-3C>G (n.11687-3C>G)
 gnomAD v4
19g.38543344C>TCA882060486RYR1c.100-3C>T
c.82-3C>T
c.11690-3C>T (n.11690-3C>T)
c.11675-3C>T (n.11675-3C>T)
c.11672-3C>T (n.11672-3C>T)
c.299-3C>T
c.5059-3C>T
c.11657-3C>T (n.11657-3C>T)
c.11687-3C>T (n.11687-3C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.38543345A>CCA405661040RYR1c.100-2A>C
c.82-2A>C
c.11690-2A>C (n.11690-2A>C)
c.11675-2A>C (n.11675-2A>C)
c.11672-2A>C (n.11672-2A>C)
c.299-2A>C
c.5059-2A>C
c.11657-2A>C (n.11657-2A>C)
c.11687-2A>C (n.11687-2A>C)
 ClinVar dbSNP
19g.38543345A>GCA405661038RYR1c.100-2A>G
c.82-2A>G
c.11690-2A>G (n.11690-2A>G)
c.11675-2A>G (n.11675-2A>G)
c.11672-2A>G (n.11672-2A>G)
c.299-2A>G
c.5059-2A>G
c.11657-2A>G (n.11657-2A>G)
c.11687-2A>G (n.11687-2A>G)
19g.38543345A>TCA405661036RYR1c.100-2A>T
c.82-2A>T
c.11690-2A>T (n.11690-2A>T)
c.11675-2A>T (n.11675-2A>T)
c.11672-2A>T (n.11672-2A>T)
c.299-2A>T
c.5059-2A>T
c.11657-2A>T (n.11657-2A>T)
c.11687-2A>T (n.11687-2A>T)
19g.38543346G>ACA405661042RYR1c.100-1G>A
c.82-1G>A
c.11690-1G>A (n.11690-1G>A)
c.11675-1G>A (n.11675-1G>A)
c.11672-1G>A (n.11672-1G>A)
c.299-1G>A
c.5059-1G>A
c.11657-1G>A (n.11657-1G>A)
c.11687-1G>A (n.11687-1G>A)
19g.38543346G>CCA405661044RYR1c.100-1G>C
c.82-1G>C
c.11690-1G>C (n.11690-1G>C)
c.11675-1G>C (n.11675-1G>C)
c.11672-1G>C (n.11672-1G>C)
c.299-1G>C
c.5059-1G>C
c.11657-1G>C (n.11657-1G>C)
c.11687-1G>C (n.11687-1G>C)
19g.38543346G>TCA405661046RYR1c.100-1G>T
c.82-1G>T
c.11690-1G>T (n.11690-1G>T)
c.11675-1G>T (n.11675-1G>T)
c.11672-1G>T (n.11672-1G>T)
c.299-1G>T
c.5059-1G>T
c.11657-1G>T (n.11657-1G>T)
c.11687-1G>T (n.11687-1G>T)
19g.38543347A=CA2335074301RYR1c.100A=
c.82A=
c.11690A= (p.Asp3897=)
c.11675A= (p.Asp3892=)
c.11672A= (p.Asp3891=)
c.299A=
c.5059A=
c.11657A= (p.Asp3886=)
c.11687A= (p.Asp3896=)
19g.38543347A>CCA405661048RYR1c.100A>C
c.82A>C
c.11690A>C (p.Asp3897Ala)
c.11675A>C (p.Asp3892Ala)
c.11672A>C (p.Asp3891Ala)
c.299A>C
c.5059A>C
c.11657A>C (p.Asp3886Ala)
c.11687A>C (p.Asp3896Ala)
19g.38543347A>GCA405661050RYR1c.100A>G
c.82A>G
c.11690A>G (p.Asp3897Gly)
c.11675A>G (p.Asp3892Gly)
c.11672A>G (p.Asp3891Gly)
c.299A>G
c.5059A>G
c.11657A>G (p.Asp3886Gly)
c.11687A>G (p.Asp3896Gly)
 dbSNP gnomAD v3 gnomAD v4
19g.38543347A>TCA405661052RYR1c.100A>T
c.82A>T
c.11690A>T (p.Asp3897Val)
c.11675A>T (p.Asp3892Val)
c.11672A>T (p.Asp3891Val)
c.299A>T
c.5059A>T
c.11657A>T (p.Asp3886Val)
c.11687A>T (p.Asp3896Val)
19g.38543348T>ACA405661054RYR1c.101T>A
c.83T>A
c.11691T>A (p.Asp3897Glu)
c.11676T>A (p.Asp3892Glu)
c.11673T>A (p.Asp3891Glu)
c.300T>A
c.5060T>A
c.11658T>A (p.Asp3886Glu)
c.11688T>A (p.Asp3896Glu)
19g.38543348T>CCA057527RYR1c.101T>C
c.83T>C
c.11691T>C (p.Asp3897=)
c.11676T>C (p.Asp3892=)
c.11673T>C (p.Asp3891=)
c.300T>C
c.5060T>C
c.11658T>C (p.Asp3886=)
c.11688T>C (p.Asp3896=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543348T>GCA405661057RYR1c.101T>G
c.83T>G
c.11691T>G (p.Asp3897Glu)
c.11676T>G (p.Asp3892Glu)
c.11673T>G (p.Asp3891Glu)
c.300T>G
c.5060T>G
c.11658T>G (p.Asp3886Glu)
c.11688T>G (p.Asp3896Glu)
19g.38543348T=CA2335074302RYR1c.101T=
c.83T=
c.11691T= (p.Asp3897=)
c.11676T= (p.Asp3892=)
c.11673T= (p.Asp3891=)
c.300T=
c.5060T=
c.11658T= (p.Asp3886=)
c.11688T= (p.Asp3896=)
19g.38543349T>ACA405661059RYR1c.102T>A
c.84T>A
c.11692T>A (p.Phe3898Ile)
c.11677T>A (p.Phe3893Ile)
c.11674T>A (p.Phe3892Ile)
c.301T>A
c.5061T>A
c.11659T>A (p.Phe3887Ile)
c.11689T>A (p.Phe3897Ile)
19g.38543349T>CCA405661062RYR1c.102T>C
c.84T>C
c.11692T>C (p.Phe3898Leu)
c.11677T>C (p.Phe3893Leu)
c.11674T>C (p.Phe3892Leu)
c.301T>C
c.5061T>C
c.11659T>C (p.Phe3887Leu)
c.11689T>C (p.Phe3897Leu)
19g.38543349T>GCA405661063RYR1c.102T>G
c.84T>G
c.11692T>G (p.Phe3898Val)
c.11677T>G (p.Phe3893Val)
c.11674T>G (p.Phe3892Val)
c.301T>G
c.5061T>G
c.11659T>G (p.Phe3887Val)
c.11689T>G (p.Phe3897Val)
19g.38543350T>ACA405661068RYR1c.103T>A
c.85T>A
c.11693T>A (p.Phe3898Tyr)
c.11678T>A (p.Phe3893Tyr)
c.11675T>A (p.Phe3892Tyr)
c.302T>A
c.5062T>A
c.11660T>A (p.Phe3887Tyr)
c.11690T>A (p.Phe3897Tyr)
19g.38543350T>CCA405661070RYR1c.103T>C
c.85T>C
c.11693T>C (p.Phe3898Ser)
c.11678T>C (p.Phe3893Ser)
c.11675T>C (p.Phe3892Ser)
c.302T>C
c.5062T>C
c.11660T>C (p.Phe3887Ser)
c.11690T>C (p.Phe3897Ser)
19g.38543350T>GCA405661066RYR1c.103T>G
c.85T>G
c.11693T>G (p.Phe3898Cys)
c.11678T>G (p.Phe3893Cys)
c.11675T>G (p.Phe3892Cys)
c.302T>G
c.5062T>G
c.11660T>G (p.Phe3887Cys)
c.11690T>G (p.Phe3897Cys)
19g.38543351C>ACA405661073RYR1c.104C>A
c.86C>A
c.11694C>A (p.Phe3898Leu)
c.11679C>A (p.Phe3893Leu)
c.11676C>A (p.Phe3892Leu)
c.303C>A
c.5063C>A
c.11661C>A (p.Phe3887Leu)
c.11691C>A (p.Phe3897Leu)
 ClinVar dbSNP COSMIC
19g.38543351C>GCA405661074RYR1c.104C>G
c.86C>G
c.11694C>G (p.Phe3898Leu)
c.11679C>G (p.Phe3893Leu)
c.11676C>G (p.Phe3892Leu)
c.303C>G
c.5063C>G
c.11661C>G (p.Phe3887Leu)
c.11691C>G (p.Phe3897Leu)
19g.38543351C>TCA507354570RYR1c.104C>T
c.86C>T
c.11694C>T (p.Phe3898=)
c.11679C>T (p.Phe3893=)
c.11676C>T (p.Phe3892=)
c.303C>T
c.5063C>T
c.11661C>T (p.Phe3887=)
c.11691C>T (p.Phe3897=)
19g.38543352C>ACA405661076RYR1c.105C>A
c.87C>A
c.11695C>A (p.Gln3899Lys)
c.11680C>A (p.Gln3894Lys)
c.11677C>A (p.Gln3893Lys)
c.304C>A
c.5064C>A
c.11662C>A (p.Gln3888Lys)
c.11692C>A (p.Gln3898Lys)
19g.38543352C>GCA405661078RYR1c.105C>G
c.87C>G
c.11695C>G (p.Gln3899Glu)
c.11680C>G (p.Gln3894Glu)
c.11677C>G (p.Gln3893Glu)
c.304C>G
c.5064C>G
c.11662C>G (p.Gln3888Glu)
c.11692C>G (p.Gln3898Glu)
19g.38543352C>TCA405661082RYR1c.105C>T
c.87C>T
c.11695C>T (p.Gln3899Ter)
c.11680C>T (p.Gln3894Ter)
c.11677C>T (p.Gln3893Ter)
c.304C>T
c.5064C>T
c.11662C>T (p.Gln3888Ter)
c.11692C>T (p.Gln3898Ter)
19g.38543353A>CCA405661086RYR1c.106A>C
c.88A>C
c.11696A>C (p.Gln3899Pro)
c.11681A>C (p.Gln3894Pro)
c.11678A>C (p.Gln3893Pro)
c.305A>C
c.5065A>C
c.11663A>C (p.Gln3888Pro)
c.11693A>C (p.Gln3898Pro)
19g.38543353A>GCA405661087RYR1c.106A>G
c.88A>G
c.11696A>G (p.Gln3899Arg)
c.11681A>G (p.Gln3894Arg)
c.11678A>G (p.Gln3893Arg)
c.305A>G
c.5065A>G
c.11663A>G (p.Gln3888Arg)
c.11693A>G (p.Gln3898Arg)
19g.38543353A>TCA405661089RYR1c.106A>T
c.88A>T
c.11696A>T (p.Gln3899Leu)
c.11681A>T (p.Gln3894Leu)
c.11678A>T (p.Gln3893Leu)
c.305A>T
c.5065A>T
c.11663A>T (p.Gln3888Leu)
c.11693A>T (p.Gln3898Leu)
19g.38543354G>ACA507354573RYR1c.107G>A
c.89G>A
c.11697G>A (p.Gln3899=)
c.11682G>A (p.Gln3894=)
c.11679G>A (p.Gln3893=)
c.306G>A
c.5066G>A
c.11664G>A (p.Gln3888=)
c.11694G>A (p.Gln3898=)
 gnomAD v4
19g.38543354G>CCA405661092RYR1c.107G>C
c.89G>C
c.11697G>C (p.Gln3899His)
c.11682G>C (p.Gln3894His)
c.11679G>C (p.Gln3893His)
c.306G>C
c.5066G>C
c.11664G>C (p.Gln3888His)
c.11694G>C (p.Gln3898His)
 ClinVar dbSNP
19g.38543354G=CA2335074303RYR1c.107G=
c.89G=
c.11697G= (p.Gln3899=)
c.11682G= (p.Gln3894=)
c.11679G= (p.Gln3893=)
c.306G=
c.5066G=
c.11664G= (p.Gln3888=)
c.11694G= (p.Gln3898=)
19g.38543354G>TCA405661093RYR1c.107G>T
c.89G>T
c.11697G>T (p.Gln3899His)
c.11682G>T (p.Gln3894His)
c.11679G>T (p.Gln3893His)
c.306G>T
c.5066G>T
c.11664G>T (p.Gln3888His)
c.11694G>T (p.Gln3898His)
 ClinVar dbSNP
19g.38543355A>CCA405661095RYR1c.108A>C
c.90A>C
c.11698A>C (p.Asn3900His)
c.11683A>C (p.Asn3895His)
c.11680A>C (p.Asn3894His)
c.307A>C
c.5067A>C
c.11665A>C (p.Asn3889His)
c.11695A>C (p.Asn3899His)
19g.38543355A>GCA405661097RYR1c.108A>G
c.90A>G
c.11698A>G (p.Asn3900Asp)
c.11683A>G (p.Asn3895Asp)
c.11680A>G (p.Asn3894Asp)
c.307A>G
c.5067A>G
c.11665A>G (p.Asn3889Asp)
c.11695A>G (p.Asn3899Asp)
19g.38543355A>TCA405661099RYR1c.108A>T
c.90A>T
c.11698A>T (p.Asn3900Tyr)
c.11683A>T (p.Asn3895Tyr)
c.11680A>T (p.Asn3894Tyr)
c.307A>T
c.5067A>T
c.11665A>T (p.Asn3889Tyr)
c.11695A>T (p.Asn3899Tyr)
 ClinVar dbSNP
19g.38543356A>CCA405661105RYR1c.109A>C
c.91A>C
c.11699A>C (p.Asn3900Thr)
c.11684A>C (p.Asn3895Thr)
c.11681A>C (p.Asn3894Thr)
c.308A>C
c.5068A>C
c.11666A>C (p.Asn3889Thr)
c.11696A>C (p.Asn3899Thr)
19g.38543356A>GCA405661103RYR1c.109A>G
c.91A>G
c.11699A>G (p.Asn3900Ser)
c.11684A>G (p.Asn3895Ser)
c.11681A>G (p.Asn3894Ser)
c.308A>G
c.5068A>G
c.11666A>G (p.Asn3889Ser)
c.11696A>G (p.Asn3899Ser)
19g.38543356A>TCA405661101RYR1c.109A>T
c.91A>T
c.11699A>T (p.Asn3900Ile)
c.11684A>T (p.Asn3895Ile)
c.11681A>T (p.Asn3894Ile)
c.308A>T
c.5068A>T
c.11666A>T (p.Asn3889Ile)
c.11696A>T (p.Asn3899Ile)
19g.38543357C>ACA405661107RYR1c.110C>A
c.92C>A
c.11700C>A (p.Asn3900Lys)
c.11685C>A (p.Asn3895Lys)
c.11682C>A (p.Asn3894Lys)
c.309C>A
c.5069C>A
c.11667C>A (p.Asn3889Lys)
c.11697C>A (p.Asn3899Lys)
 dbSNP
19g.38543357C=CA2335074304RYR1c.110C=
c.92C=
c.11700C= (p.Asn3900=)
c.11685C= (p.Asn3895=)
c.11682C= (p.Asn3894=)
c.309C=
c.5069C=
c.11667C= (p.Asn3889=)
c.11697C= (p.Asn3899=)
19g.38543357C>GCA405661109RYR1c.110C>G
c.92C>G
c.11700C>G (p.Asn3900Lys)
c.11685C>G (p.Asn3895Lys)
c.11682C>G (p.Asn3894Lys)
c.309C>G
c.5069C>G
c.11667C>G (p.Asn3889Lys)
c.11697C>G (p.Asn3899Lys)
 gnomAD v4
19g.38543357C>TCA507354577RYR1c.110C>T
c.92C>T
c.11700C>T (p.Asn3900=)
c.11685C>T (p.Asn3895=)
c.11682C>T (p.Asn3894=)
c.309C>T
c.5069C>T
c.11667C>T (p.Asn3889=)
c.11697C>T (p.Asn3899=)
 ClinVar
19g.38543358T>ACA405661111RYR1c.111T>A
c.93T>A
c.11701T>A (p.Tyr3901Asn)
c.11686T>A (p.Tyr3896Asn)
c.11683T>A (p.Tyr3895Asn)
c.310T>A
c.5070T>A
c.11668T>A (p.Tyr3890Asn)
c.11698T>A (p.Tyr3900Asn)
19g.38543358T>CCA405661113RYR1c.111T>C
c.93T>C
c.11701T>C (p.Tyr3901His)
c.11686T>C (p.Tyr3896His)
c.11683T>C (p.Tyr3895His)
c.310T>C
c.5070T>C
c.11668T>C (p.Tyr3890His)
c.11698T>C (p.Tyr3900His)
19g.38543358T>GCA405661114RYR1c.111T>G
c.93T>G
c.11701T>G (p.Tyr3901Asp)
c.11686T>G (p.Tyr3896Asp)
c.11683T>G (p.Tyr3895Asp)
c.310T>G
c.5070T>G
c.11668T>G (p.Tyr3890Asp)
c.11698T>G (p.Tyr3900Asp)
19g.38543359A>CCA405661116RYR1c.112A>C
c.94A>C
c.11702A>C (p.Tyr3901Ser)
c.11687A>C (p.Tyr3896Ser)
c.11684A>C (p.Tyr3895Ser)
c.311A>C
c.5071A>C
c.11669A>C (p.Tyr3890Ser)
c.11699A>C (p.Tyr3900Ser)
19g.38543359A>GCA405661118RYR1c.112A>G
c.94A>G
c.11702A>G (p.Tyr3901Cys)
c.11687A>G (p.Tyr3896Cys)
c.11684A>G (p.Tyr3895Cys)
c.311A>G
c.5071A>G
c.11669A>G (p.Tyr3890Cys)
c.11699A>G (p.Tyr3900Cys)
19g.38543359A>TCA405661120RYR1c.112A>T
c.94A>T
c.11702A>T (p.Tyr3901Phe)
c.11687A>T (p.Tyr3896Phe)
c.11684A>T (p.Tyr3895Phe)
c.311A>T
c.5071A>T
c.11669A>T (p.Tyr3890Phe)
c.11699A>T (p.Tyr3900Phe)
19g.38543360C>ACA405661122RYR1c.113C>A
c.95C>A
c.11703C>A (p.Tyr3901Ter)
c.11688C>A (p.Tyr3896Ter)
c.11685C>A (p.Tyr3895Ter)
c.312C>A
c.5072C>A
c.11670C>A (p.Tyr3890Ter)
c.11700C>A (p.Tyr3900Ter)
19g.38543360C=CA2335074305RYR1c.113C=
c.95C=
c.11703C= (p.Tyr3901=)
c.11688C= (p.Tyr3896=)
c.11685C= (p.Tyr3895=)
c.312C=
c.5072C=
c.11670C= (p.Tyr3890=)
c.11700C= (p.Tyr3900=)
19g.38543360C>GCA405661124RYR1c.113C>G
c.95C>G
c.11703C>G (p.Tyr3901Ter)
c.11688C>G (p.Tyr3896Ter)
c.11685C>G (p.Tyr3895Ter)
c.312C>G
c.5072C>G
c.11670C>G (p.Tyr3890Ter)
c.11700C>G (p.Tyr3900Ter)
19g.38543360C>TCA507354583RYR1c.113C>T
c.95C>T
c.11703C>T (p.Tyr3901=)
c.11688C>T (p.Tyr3896=)
c.11685C>T (p.Tyr3895=)
c.312C>T
c.5072C>T
c.11670C>T (p.Tyr3890=)
c.11700C>T (p.Tyr3900=)
 dbSNP
19g.38543361C>ACA405661127RYR1c.114C>A
c.96C>A
c.11704C>A (p.Leu3902Ile)
c.11689C>A (p.Leu3897Ile)
c.11686C>A (p.Leu3896Ile)
c.313C>A
c.5073C>A
c.11671C>A (p.Leu3891Ile)
c.11701C>A (p.Leu3901Ile)
19g.38543361C=CA2335074306RYR1c.114C=
c.96C=
c.11704C= (p.Leu3902=)
c.11689C= (p.Leu3897=)
c.11686C= (p.Leu3896=)
c.313C=
c.5073C=
c.11671C= (p.Leu3891=)
c.11701C= (p.Leu3901=)
19g.38543361C>GCA405661129RYR1c.114C>G
c.96C>G
c.11704C>G (p.Leu3902Val)
c.11689C>G (p.Leu3897Val)
c.11686C>G (p.Leu3896Val)
c.313C>G
c.5073C>G
c.11671C>G (p.Leu3891Val)
c.11701C>G (p.Leu3901Val)
 dbSNP COSMIC
19g.38543361C>TCA507354586RYR1c.114C>T
c.96C>T
c.11704C>T (p.Leu3902=)
c.11689C>T (p.Leu3897=)
c.11686C>T (p.Leu3896=)
c.313C>T
c.5073C>T
c.11671C>T (p.Leu3891=)
c.11701C>T (p.Leu3901=)
 ClinVar dbSNP
19g.38543362T>ACA405661135RYR1c.115T>A
c.97T>A
c.11705T>A (p.Leu3902Gln)
c.11690T>A (p.Leu3897Gln)
c.11687T>A (p.Leu3896Gln)
c.314T>A
c.5074T>A
c.11672T>A (p.Leu3891Gln)
c.11702T>A (p.Leu3901Gln)
19g.38543362T>CCA405661133RYR1c.115T>C
c.97T>C
c.11705T>C (p.Leu3902Pro)
c.11690T>C (p.Leu3897Pro)
c.11687T>C (p.Leu3896Pro)
c.314T>C
c.5074T>C
c.11672T>C (p.Leu3891Pro)
c.11702T>C (p.Leu3901Pro)
19g.38543362T>GCA405661131RYR1c.115T>G
c.97T>G
c.11705T>G (p.Leu3902Arg)
c.11690T>G (p.Leu3897Arg)
c.11687T>G (p.Leu3896Arg)
c.314T>G
c.5074T>G
c.11672T>G (p.Leu3891Arg)
c.11702T>G (p.Leu3901Arg)
19g.38543363A=CA2335074307RYR1c.116A=
c.98A=
c.11706A= (p.Leu3902=)
c.11691A= (p.Leu3897=)
c.11688A= (p.Leu3896=)
c.315A=
c.5075A=
c.11673A= (p.Leu3891=)
c.11703A= (p.Leu3901=)
19g.38543363A>CCA507354590RYR1c.116A>C
c.98A>C
c.11706A>C (p.Leu3902=)
c.11691A>C (p.Leu3897=)
c.11688A>C (p.Leu3896=)
c.315A>C
c.5075A>C
c.11673A>C (p.Leu3891=)
c.11703A>C (p.Leu3901=)
19g.38543363A>GCA057532RYR1c.116A>G
c.98A>G
c.11706A>G (p.Leu3902=)
c.11691A>G (p.Leu3897=)
c.11688A>G (p.Leu3896=)
c.315A>G
c.5075A>G
c.11673A>G (p.Leu3891=)
c.11703A>G (p.Leu3901=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543363A>TCA507354591RYR1c.116A>T
c.98A>T
c.11706A>T (p.Leu3902=)
c.11691A>T (p.Leu3897=)
c.11688A>T (p.Leu3896=)
c.315A>T
c.5075A>T
c.11673A>T (p.Leu3891=)
c.11703A>T (p.Leu3901=)
19g.38543364C>ACA507354592RYR1c.117C>A
c.99C>A
c.11707C>A (p.Arg3903=)
c.11692C>A (p.Arg3898=)
c.11689C>A (p.Arg3897=)
c.316C>A
c.5076C>A
c.11674C>A (p.Arg3892=)
c.11704C>A (p.Arg3902=)
 gnomAD v4
19g.38543364C=CA2335074308RYR1c.117C=
c.99C=
c.11707C= (p.Arg3903=)
c.11692C= (p.Arg3898=)
c.11689C= (p.Arg3897=)
c.316C=
c.5076C=
c.11674C= (p.Arg3892=)
c.11704C= (p.Arg3902=)
19g.38543364C>GCA405661137RYR1c.117C>G
c.99C>G
c.11707C>G (p.Arg3903Gly)
c.11692C>G (p.Arg3898Gly)
c.11689C>G (p.Arg3897Gly)
c.316C>G
c.5076C>G
c.11674C>G (p.Arg3892Gly)
c.11704C>G (p.Arg3902Gly)
19g.38543364C>TCA405661138RYR1c.117C>T
c.99C>T
c.11707C>T (p.Arg3903Trp)
c.11692C>T (p.Arg3898Trp)
c.11689C>T (p.Arg3897Trp)
c.316C>T
c.5076C>T
c.11674C>T (p.Arg3892Trp)
c.11704C>T (p.Arg3902Trp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38543365G>ACA023926RYR1c.118G>A
c.100G>A
c.11708G>A (p.Arg3903Gln)
c.11693G>A (p.Arg3898Gln)
c.11690G>A (p.Arg3897Gln)
c.317G>A
c.5077G>A
c.11675G>A (p.Arg3892Gln)
c.11705G>A (p.Arg3902Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38543365G>CCA405661141RYR1c.118G>C
c.100G>C
c.11708G>C (p.Arg3903Pro)
c.11693G>C (p.Arg3898Pro)
c.11690G>C (p.Arg3897Pro)
c.317G>C
c.5077G>C
c.11675G>C (p.Arg3892Pro)
c.11705G>C (p.Arg3902Pro)
 ClinVar
19g.38543365G=CA2335074309RYR1c.118G=
c.100G=
c.11708G= (p.Arg3903=)
c.11693G= (p.Arg3898=)
c.11690G= (p.Arg3897=)
c.317G=
c.5077G=
c.11675G= (p.Arg3892=)
c.11705G= (p.Arg3902=)
19g.38543365G>TCA405661143RYR1c.118G>T
c.100G>T
c.11708G>T (p.Arg3903Leu)
c.11693G>T (p.Arg3898Leu)
c.11690G>T (p.Arg3897Leu)
c.317G>T
c.5077G>T
c.11675G>T (p.Arg3892Leu)
c.11705G>T (p.Arg3902Leu)
 ClinVar gnomAD v4
19g.38543366G>ACA507354594RYR1c.119G>A
c.101G>A
c.11709G>A (p.Arg3903=)
c.11694G>A (p.Arg3898=)
c.11691G>A (p.Arg3897=)
c.318G>A
c.5078G>A
c.11676G>A (p.Arg3892=)
c.11706G>A (p.Arg3902=)
 COSMIC
19g.38543366G>CCA507354595RYR1c.119G>C
c.101G>C
c.11709G>C (p.Arg3903=)
c.11694G>C (p.Arg3898=)
c.11691G>C (p.Arg3897=)
c.318G>C
c.5078G>C
c.11676G>C (p.Arg3892=)
c.11706G>C (p.Arg3902=)
19g.38543366G>TCA507354596RYR1c.119G>T
c.101G>T
c.11709G>T (p.Arg3903=)
c.11694G>T (p.Arg3898=)
c.11691G>T (p.Arg3897=)
c.318G>T
c.5078G>T
c.11676G>T (p.Arg3892=)
c.11706G>T (p.Arg3902=)
19g.38543367A>CCA405661145RYR1c.120A>C
c.102A>C
c.11710A>C (p.Thr3904Pro)
c.11695A>C (p.Thr3899Pro)
c.11692A>C (p.Thr3898Pro)
c.319A>C
c.5079A>C
c.11677A>C (p.Thr3893Pro)
c.11707A>C (p.Thr3903Pro)
19g.38543367A>GCA405661147RYR1c.120A>G
c.102A>G
c.11710A>G (p.Thr3904Ala)
c.11695A>G (p.Thr3899Ala)
c.11692A>G (p.Thr3898Ala)
c.319A>G
c.5079A>G
c.11677A>G (p.Thr3893Ala)
c.11707A>G (p.Thr3903Ala)
19g.38543367A>TCA405661149RYR1c.120A>T
c.102A>T
c.11710A>T (p.Thr3904Ser)
c.11695A>T (p.Thr3899Ser)
c.11692A>T (p.Thr3898Ser)
c.319A>T
c.5079A>T
c.11677A>T (p.Thr3893Ser)
c.11707A>T (p.Thr3903Ser)
19g.38543368C>ACA405661152RYR1c.121C>A
c.103C>A
c.11711C>A (p.Thr3904Lys)
c.11696C>A (p.Thr3899Lys)
c.11693C>A (p.Thr3898Lys)
c.320C>A
c.5080C>A
c.11678C>A (p.Thr3893Lys)
c.11708C>A (p.Thr3903Lys)
19g.38543368C>GCA405661154RYR1c.121C>G
c.103C>G
c.11711C>G (p.Thr3904Arg)
c.11696C>G (p.Thr3899Arg)
c.11693C>G (p.Thr3898Arg)
c.320C>G
c.5080C>G
c.11678C>G (p.Thr3893Arg)
c.11708C>G (p.Thr3903Arg)
19g.38543368C>TCA405661155RYR1c.121C>T
c.103C>T
c.11711C>T (p.Thr3904Ile)
c.11696C>T (p.Thr3899Ile)
c.11693C>T (p.Thr3898Ile)
c.320C>T
c.5080C>T
c.11678C>T (p.Thr3893Ile)
c.11708C>T (p.Thr3903Ile)
 gnomAD v4
19g.38543369A=CA2335074310RYR1c.122A=
c.104A=
c.11712A= (p.Thr3904=)
c.11697A= (p.Thr3899=)
c.11694A= (p.Thr3898=)
c.321A=
c.5081A=
c.11679A= (p.Thr3893=)
c.11709A= (p.Thr3903=)
19g.38543369A>CCA507354602RYR1c.122A>C
c.104A>C
c.11712A>C (p.Thr3904=)
c.11697A>C (p.Thr3899=)
c.11694A>C (p.Thr3898=)
c.321A>C
c.5081A>C
c.11679A>C (p.Thr3893=)
c.11709A>C (p.Thr3903=)
19g.38543369A>GCA057538RYR1c.122A>G
c.104A>G
c.11712A>G (p.Thr3904=)
c.11697A>G (p.Thr3899=)
c.11694A>G (p.Thr3898=)
c.321A>G
c.5081A>G
c.11679A>G (p.Thr3893=)
c.11709A>G (p.Thr3903=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543369A>TCA507354603RYR1c.122A>T
c.104A>T
c.11712A>T (p.Thr3904=)
c.11697A>T (p.Thr3899=)
c.11694A>T (p.Thr3898=)
c.321A>T
c.5081A>T
c.11679A>T (p.Thr3893=)
c.11709A>T (p.Thr3903=)
19g.38543373_38543376delCA2584908082RYR1c.126_129del
c.108_111del
c.11716_11719del (p.Thr3906GlyfsTer?)
c.11701_11704del (p.Thr3901GlyfsTer?)
c.11698_11701del (p.Thr3900GlyfsTer?)
c.325_328del
c.5085_5088del
c.11683_11686del (p.Thr3895GlyfsTer?)
c.11713_11716del (p.Thr3905GlyfsTer?)
 gnomAD v4
19g.38543370C>ACA405661163RYR1c.123C>A
c.105C>A
c.11713C>A (p.Gln3905Lys)
c.11698C>A (p.Gln3900Lys)
c.11695C>A (p.Gln3899Lys)
c.322C>A
c.5082C>A
c.11680C>A (p.Gln3894Lys)
c.11710C>A (p.Gln3904Lys)
19g.38543370C>GCA405661161RYR1c.123C>G
c.105C>G
c.11713C>G (p.Gln3905Glu)
c.11698C>G (p.Gln3900Glu)
c.11695C>G (p.Gln3899Glu)
c.322C>G
c.5082C>G
c.11680C>G (p.Gln3894Glu)
c.11710C>G (p.Gln3904Glu)
 gnomAD v4
19g.38543370C>TCA405661159RYR1c.123C>T
c.105C>T
c.11713C>T (p.Gln3905Ter)
c.11698C>T (p.Gln3900Ter)
c.11695C>T (p.Gln3899Ter)
c.322C>T
c.5082C>T
c.11680C>T (p.Gln3894Ter)
c.11710C>T (p.Gln3904Ter)
 gnomAD v4
19g.38543371A>CCA405661165RYR1c.124A>C
c.106A>C
c.11714A>C (p.Gln3905Pro)
c.11699A>C (p.Gln3900Pro)
c.11696A>C (p.Gln3899Pro)
c.323A>C
c.5083A>C
c.11681A>C (p.Gln3894Pro)
c.11711A>C (p.Gln3904Pro)
 COSMIC
19g.38543371A>GCA405661167RYR1c.124A>G
c.106A>G
c.11714A>G (p.Gln3905Arg)
c.11699A>G (p.Gln3900Arg)
c.11696A>G (p.Gln3899Arg)
c.323A>G
c.5083A>G
c.11681A>G (p.Gln3894Arg)
c.11711A>G (p.Gln3904Arg)
19g.38543371A>TCA405661169RYR1c.124A>T
c.106A>T
c.11714A>T (p.Gln3905Leu)
c.11699A>T (p.Gln3900Leu)
c.11696A>T (p.Gln3899Leu)
c.323A>T
c.5083A>T
c.11681A>T (p.Gln3894Leu)
c.11711A>T (p.Gln3904Leu)
19g.38543372G>ACA308091978RYR1c.125G>A
c.107G>A
c.11715G>A (p.Gln3905=)
c.11700G>A (p.Gln3900=)
c.11697G>A (p.Gln3899=)
c.324G>A
c.5084G>A
c.11682G>A (p.Gln3894=)
c.11712G>A (p.Gln3904=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543372G>CCA405661171RYR1c.125G>C
c.107G>C
c.11715G>C (p.Gln3905His)
c.11700G>C (p.Gln3900His)
c.11697G>C (p.Gln3899His)
c.324G>C
c.5084G>C
c.11682G>C (p.Gln3894His)
c.11712G>C (p.Gln3904His)
 ClinVar
19g.38543372G=CA2335074311RYR1c.125G=
c.107G=
c.11715G= (p.Gln3905=)
c.11700G= (p.Gln3900=)
c.11697G= (p.Gln3899=)
c.324G=
c.5084G=
c.11682G= (p.Gln3894=)
c.11712G= (p.Gln3904=)
19g.38543372G>TCA405661173RYR1c.125G>T
c.107G>T
c.11715G>T (p.Gln3905His)
c.11700G>T (p.Gln3900His)
c.11697G>T (p.Gln3899His)
c.324G>T
c.5084G>T
c.11682G>T (p.Gln3894His)
c.11712G>T (p.Gln3904His)
 COSMIC
19g.38543373A=CA2335074312RYR1c.126A=
c.108A=
c.11716A= (p.Thr3906=)
c.11701A= (p.Thr3901=)
c.11698A= (p.Thr3900=)
c.325A=
c.5085A=
c.11683A= (p.Thr3895=)
c.11713A= (p.Thr3905=)
19g.38543373A>CCA405661176RYR1c.126A>C
c.108A>C
c.11716A>C (p.Thr3906Pro)
c.11701A>C (p.Thr3901Pro)
c.11698A>C (p.Thr3900Pro)
c.325A>C
c.5085A>C
c.11683A>C (p.Thr3895Pro)
c.11713A>C (p.Thr3905Pro)
19g.38543373A>GCA405661177RYR1c.126A>G
c.108A>G
c.11716A>G (p.Thr3906Ala)
c.11701A>G (p.Thr3901Ala)
c.11698A>G (p.Thr3900Ala)
c.325A>G
c.5085A>G
c.11683A>G (p.Thr3895Ala)
c.11713A>G (p.Thr3905Ala)
 COSMIC
19g.38543373A>TCA405661179RYR1c.126A>T
c.108A>T
c.11716A>T (p.Thr3906Ser)
c.11701A>T (p.Thr3901Ser)
c.11698A>T (p.Thr3900Ser)
c.325A>T
c.5085A>T
c.11683A>T (p.Thr3895Ser)
c.11713A>T (p.Thr3905Ser)
 ClinVar dbSNP gnomAD v4
19g.38543374C>ACA405661182RYR1c.127C>A
c.109C>A
c.11717C>A (p.Thr3906Lys)
c.11702C>A (p.Thr3901Lys)
c.11699C>A (p.Thr3900Lys)
c.326C>A
c.5086C>A
c.11684C>A (p.Thr3895Lys)
c.11714C>A (p.Thr3905Lys)
19g.38543374C>GCA405661183RYR1c.127C>G
c.109C>G
c.11717C>G (p.Thr3906Arg)
c.11702C>G (p.Thr3901Arg)
c.11699C>G (p.Thr3900Arg)
c.326C>G
c.5086C>G
c.11684C>G (p.Thr3895Arg)
c.11714C>G (p.Thr3905Arg)
19g.38543374C>TCA405661185RYR1c.127C>T
c.109C>T
c.11717C>T (p.Thr3906Ile)
c.11702C>T (p.Thr3901Ile)
c.11699C>T (p.Thr3900Ile)
c.326C>T
c.5086C>T
c.11684C>T (p.Thr3895Ile)
c.11714C>T (p.Thr3905Ile)
 gnomAD v4 COSMIC
19g.38543375A>CCA507354609RYR1c.128A>C
c.110A>C
c.11718A>C (p.Thr3906=)
c.11703A>C (p.Thr3901=)
c.11700A>C (p.Thr3900=)
c.327A>C
c.5087A>C
c.11685A>C (p.Thr3895=)
c.11715A>C (p.Thr3905=)
19g.38543375A>GCA507354610RYR1c.128A>G
c.110A>G
c.11718A>G (p.Thr3906=)
c.11703A>G (p.Thr3901=)
c.11700A>G (p.Thr3900=)
c.327A>G
c.5087A>G
c.11685A>G (p.Thr3895=)
c.11715A>G (p.Thr3905=)
 gnomAD v4
19g.38543375A>TCA507354611RYR1c.128A>T
c.110A>T
c.11718A>T (p.Thr3906=)
c.11703A>T (p.Thr3901=)
c.11700A>T (p.Thr3900=)
c.327A>T
c.5087A>T
c.11685A>T (p.Thr3895=)
c.11715A>T (p.Thr3905=)
19g.38543376G>ACA080389RYR1c.129G>A
c.111G>A
c.11719G>A (p.Gly3907Arg)
c.11704G>A (p.Gly3902Arg)
c.11701G>A (p.Gly3901Arg)
c.328G>A
c.5088G>A
c.11686G>A (p.Gly3896Arg)
c.11716G>A (p.Gly3906Arg)
19g.38543376G>CCA405661188RYR1c.129G>C
c.111G>C
c.11719G>C (p.Gly3907Arg)
c.11704G>C (p.Gly3902Arg)
c.11701G>C (p.Gly3901Arg)
c.328G>C
c.5088G>C
c.11686G>C (p.Gly3896Arg)
c.11716G>C (p.Gly3906Arg)
19g.38543376G>TCA405661189RYR1c.129G>T
c.111G>T
c.11719G>T (p.Gly3907Trp)
c.11704G>T (p.Gly3902Trp)
c.11701G>T (p.Gly3901Trp)
c.328G>T
c.5088G>T
c.11686G>T (p.Gly3896Trp)
c.11716G>T (p.Gly3906Trp)
19g.38543377G>ACA405661193RYR1c.130G>A
c.112G>A
c.11720G>A (p.Gly3907Glu)
c.11705G>A (p.Gly3902Glu)
c.11702G>A (p.Gly3901Glu)
c.329G>A
c.5089G>A
c.11687G>A (p.Gly3896Glu)
c.11717G>A (p.Gly3906Glu)
19g.38543377G>CCA405661194RYR1c.130G>C
c.112G>C
c.11720G>C (p.Gly3907Ala)
c.11705G>C (p.Gly3902Ala)
c.11702G>C (p.Gly3901Ala)
c.329G>C
c.5089G>C
c.11687G>C (p.Gly3896Ala)
c.11717G>C (p.Gly3906Ala)
19g.38543377G>TCA405661191RYR1c.130G>T
c.112G>T
c.11720G>T (p.Gly3907Val)
c.11705G>T (p.Gly3902Val)
c.11702G>T (p.Gly3901Val)
c.329G>T
c.5089G>T
c.11687G>T (p.Gly3896Val)
c.11717G>T (p.Gly3906Val)
19g.38543378G>ACA507354613RYR1c.131G>A
c.113G>A
c.11721G>A (p.Gly3907=)
c.11706G>A (p.Gly3902=)
c.11703G>A (p.Gly3901=)
c.330G>A
c.5090G>A
c.11688G>A (p.Gly3896=)
c.11718G>A (p.Gly3906=)
19g.38543378G>CCA507354615RYR1c.131G>C
c.113G>C
c.11721G>C (p.Gly3907=)
c.11706G>C (p.Gly3902=)
c.11703G>C (p.Gly3901=)
c.330G>C
c.5090G>C
c.11688G>C (p.Gly3896=)
c.11718G>C (p.Gly3906=)
19g.38543378G>TCA507354614RYR1c.131G>T
c.113G>T
c.11721G>T (p.Gly3907=)
c.11706G>T (p.Gly3902=)
c.11703G>T (p.Gly3901=)
c.330G>T
c.5090G>T
c.11688G>T (p.Gly3896=)
c.11718G>T (p.Gly3906=)
19g.38543379A>CCA405661196RYR1c.132A>C
c.114A>C
c.11722A>C (p.Asn3908His)
c.11707A>C (p.Asn3903His)
c.11704A>C (p.Asn3902His)
c.331A>C
c.5091A>C
c.11689A>C (p.Asn3897His)
c.11719A>C (p.Asn3907His)
19g.38543379A>GCA405661198RYR1c.132A>G
c.114A>G
c.11722A>G (p.Asn3908Asp)
c.11707A>G (p.Asn3903Asp)
c.11704A>G (p.Asn3902Asp)
c.331A>G
c.5091A>G
c.11689A>G (p.Asn3897Asp)
c.11719A>G (p.Asn3907Asp)
19g.38543379A>TCA405661200RYR1c.132A>T
c.114A>T
c.11722A>T (p.Asn3908Tyr)
c.11707A>T (p.Asn3903Tyr)
c.11704A>T (p.Asn3902Tyr)
c.331A>T
c.5091A>T
c.11689A>T (p.Asn3897Tyr)
c.11719A>T (p.Asn3907Tyr)
19g.38543380A=CA2335074313RYR1c.133A=
c.115A=
c.11723A= (p.Asn3908=)
c.11708A= (p.Asn3903=)
c.11705A= (p.Asn3902=)
c.332A=
c.5092A=
c.11690A= (p.Asn3897=)
c.11720A= (p.Asn3907=)
19g.38543380A>CCA405661201RYR1c.133A>C
c.115A>C
c.11723A>C (p.Asn3908Thr)
c.11708A>C (p.Asn3903Thr)
c.11705A>C (p.Asn3902Thr)
c.332A>C
c.5092A>C
c.11690A>C (p.Asn3897Thr)
c.11720A>C (p.Asn3907Thr)
19g.38543380A>GCA057545RYR1c.133A>G
c.115A>G
c.11723A>G (p.Asn3908Ser)
c.11708A>G (p.Asn3903Ser)
c.11705A>G (p.Asn3902Ser)
c.332A>G
c.5092A>G
c.11690A>G (p.Asn3897Ser)
c.11720A>G (p.Asn3907Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543380A>TCA405661203RYR1c.133A>T
c.115A>T
c.11723A>T (p.Asn3908Ile)
c.11708A>T (p.Asn3903Ile)
c.11705A>T (p.Asn3902Ile)
c.332A>T
c.5092A>T
c.11690A>T (p.Asn3897Ile)
c.11720A>T (p.Asn3907Ile)
 ClinVar dbSNP gnomAD v4
19g.38543381C>ACA405661204RYR1c.134C>A
c.116C>A
c.11724C>A (p.Asn3908Lys)
c.11709C>A (p.Asn3903Lys)
c.11706C>A (p.Asn3902Lys)
c.333C>A
c.5093C>A
c.11691C>A (p.Asn3897Lys)
c.11721C>A (p.Asn3907Lys)
19g.38543381C=CA2335074314RYR1c.134C=
c.116C=
c.11724C= (p.Asn3908=)
c.11709C= (p.Asn3903=)
c.11706C= (p.Asn3902=)
c.333C=
c.5093C=
c.11691C= (p.Asn3897=)
c.11721C= (p.Asn3907=)
19g.38543381C>GCA405661206RYR1c.134C>G
c.116C>G
c.11724C>G (p.Asn3908Lys)
c.11709C>G (p.Asn3903Lys)
c.11706C>G (p.Asn3902Lys)
c.333C>G
c.5093C>G
c.11691C>G (p.Asn3897Lys)
c.11721C>G (p.Asn3907Lys)
19g.38543381C>TCA308091985RYR1c.134C>T
c.116C>T
c.11724C>T (p.Asn3908=)
c.11709C>T (p.Asn3903=)
c.11706C>T (p.Asn3902=)
c.333C>T
c.5093C>T
c.11691C>T (p.Asn3897=)
c.11721C>T (p.Asn3907=)
 dbSNP gnomAD v4
19g.38543382A>CCA405661207RYR1c.135A>C
c.117A>C
c.11725A>C (p.Thr3909Pro)
c.11710A>C (p.Thr3904Pro)
c.11707A>C (p.Thr3903Pro)
c.334A>C
c.5094A>C
c.11692A>C (p.Thr3898Pro)
c.11722A>C (p.Thr3908Pro)
 gnomAD v4
19g.38543382A>GCA405661208RYR1c.135A>G
c.117A>G
c.11725A>G (p.Thr3909Ala)
c.11710A>G (p.Thr3904Ala)
c.11707A>G (p.Thr3903Ala)
c.334A>G
c.5094A>G
c.11692A>G (p.Thr3898Ala)
c.11722A>G (p.Thr3908Ala)
19g.38543382A>TCA405661210RYR1c.135A>T
c.117A>T
c.11725A>T (p.Thr3909Ser)
c.11710A>T (p.Thr3904Ser)
c.11707A>T (p.Thr3903Ser)
c.334A>T
c.5094A>T
c.11692A>T (p.Thr3898Ser)
c.11722A>T (p.Thr3908Ser)
19g.38543383C>ACA405661214RYR1c.136C>A
c.118C>A
c.11726C>A (p.Thr3909Lys)
c.11711C>A (p.Thr3904Lys)
c.11708C>A (p.Thr3903Lys)
c.335C>A
c.5095C>A
c.11693C>A (p.Thr3898Lys)
c.11723C>A (p.Thr3908Lys)
 COSMIC
19g.38543383C=CA2335074315RYR1c.136C=
c.118C=
c.11726C= (p.Thr3909=)
c.11711C= (p.Thr3904=)
c.11708C= (p.Thr3903=)
c.335C=
c.5095C=
c.11693C= (p.Thr3898=)
c.11723C= (p.Thr3908=)
19g.38543383C>GCA405661212RYR1c.136C>G
c.118C>G
c.11726C>G (p.Thr3909Arg)
c.11711C>G (p.Thr3904Arg)
c.11708C>G (p.Thr3903Arg)
c.335C>G
c.5095C>G
c.11693C>G (p.Thr3898Arg)
c.11723C>G (p.Thr3908Arg)
 gnomAD v4
19g.38543383C>TCA057550RYR1c.136C>T
c.118C>T
c.11726C>T (p.Thr3909Met)
c.11711C>T (p.Thr3904Met)
c.11708C>T (p.Thr3903Met)
c.335C>T
c.5095C>T
c.11693C>T (p.Thr3898Met)
c.11723C>T (p.Thr3908Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543384G>ACA057557RYR1c.137G>A
c.119G>A
c.11727G>A (p.Thr3909=)
c.11712G>A (p.Thr3904=)
c.11709G>A (p.Thr3903=)
c.336G>A
c.5096G>A
c.11694G>A (p.Thr3898=)
c.11724G>A (p.Thr3908=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543384G>CCA507354623RYR1c.137G>C
c.119G>C
c.11727G>C (p.Thr3909=)
c.11712G>C (p.Thr3904=)
c.11709G>C (p.Thr3903=)
c.336G>C
c.5096G>C
c.11694G>C (p.Thr3898=)
c.11724G>C (p.Thr3908=)
19g.38543384G=CA2335074316RYR1c.137G=
c.119G=
c.11727G= (p.Thr3909=)
c.11712G= (p.Thr3904=)
c.11709G= (p.Thr3903=)
c.336G=
c.5096G=
c.11694G= (p.Thr3898=)
c.11724G= (p.Thr3908=)
19g.38543384G>TCA080391RYR1c.137G>T
c.119G>T
c.11727G>T (p.Thr3909=)
c.11712G>T (p.Thr3904=)
c.11709G>T (p.Thr3903=)
c.336G>T
c.5096G>T
c.11694G>T (p.Thr3898=)
c.11724G>T (p.Thr3908=)
 gnomAD v4
19g.38543385A>CCA080392RYR1c.138A>C
c.120A>C
c.11728A>C (p.Thr3910Pro)
c.11713A>C (p.Thr3905Pro)
c.11710A>C (p.Thr3904Pro)
c.337A>C
c.5097A>C
c.11695A>C (p.Thr3899Pro)
c.11725A>C (p.Thr3909Pro)
19g.38543385A>GCA405661218RYR1c.138A>G
c.120A>G
c.11728A>G (p.Thr3910Ala)
c.11713A>G (p.Thr3905Ala)
c.11710A>G (p.Thr3904Ala)
c.337A>G
c.5097A>G
c.11695A>G (p.Thr3899Ala)
c.11725A>G (p.Thr3909Ala)
19g.38543385A>TCA405661220RYR1c.138A>T
c.120A>T
c.11728A>T (p.Thr3910Ser)
c.11713A>T (p.Thr3905Ser)
c.11710A>T (p.Thr3904Ser)
c.337A>T
c.5097A>T
c.11695A>T (p.Thr3899Ser)
c.11725A>T (p.Thr3909Ser)
19g.38543386C>ACA405661222RYR1c.139C>A
c.121C>A
c.11729C>A (p.Thr3910Asn)
c.11714C>A (p.Thr3905Asn)
c.11711C>A (p.Thr3904Asn)
c.338C>A
c.5098C>A
c.11696C>A (p.Thr3899Asn)
c.11726C>A (p.Thr3909Asn)
19g.38543386C>GCA405661224RYR1c.139C>G
c.121C>G
c.11729C>G (p.Thr3910Ser)
c.11714C>G (p.Thr3905Ser)
c.11711C>G (p.Thr3904Ser)
c.338C>G
c.5098C>G
c.11696C>G (p.Thr3899Ser)
c.11726C>G (p.Thr3909Ser)
19g.38543386C>TCA080414RYR1c.139C>T
c.121C>T
c.11729C>T (p.Thr3910Ile)
c.11714C>T (p.Thr3905Ile)
c.11711C>T (p.Thr3904Ile)
c.338C>T
c.5098C>T
c.11696C>T (p.Thr3899Ile)
c.11726C>T (p.Thr3909Ile)
19g.38543387C>ACA507354629RYR1c.140C>A
c.122C>A
c.11730C>A (p.Thr3910=)
c.11715C>A (p.Thr3905=)
c.11712C>A (p.Thr3904=)
c.339C>A
c.5099C>A
c.11697C>A (p.Thr3899=)
c.11727C>A (p.Thr3909=)
19g.38543387C=CA2335074317RYR1c.140C=
c.122C=
c.11730C= (p.Thr3910=)
c.11715C= (p.Thr3905=)
c.11712C= (p.Thr3904=)
c.339C=
c.5099C=
c.11697C= (p.Thr3899=)
c.11727C= (p.Thr3909=)
19g.38543387C>GCA507354628RYR1c.140C>G
c.122C>G
c.11730C>G (p.Thr3910=)
c.11715C>G (p.Thr3905=)
c.11712C>G (p.Thr3904=)
c.339C>G
c.5099C>G
c.11697C>G (p.Thr3899=)
c.11727C>G (p.Thr3909=)
 ClinVar
19g.38543387C>TCA507354627RYR1c.140C>T
c.122C>T
c.11730C>T (p.Thr3910=)
c.11715C>T (p.Thr3905=)
c.11712C>T (p.Thr3904=)
c.339C>T
c.5099C>T
c.11697C>T (p.Thr3899=)
c.11727C>T (p.Thr3909=)
 dbSNP
19g.38543388A=CA2335074318RYR1c.141A=
c.123A=
c.11731A= (p.Thr3911=)
c.11716A= (p.Thr3906=)
c.11713A= (p.Thr3905=)
c.340A=
c.5100A=
c.11698A= (p.Thr3900=)
c.11728A= (p.Thr3910=)
19g.38543388A>CCA405661226RYR1c.141A>C
c.123A>C
c.11731A>C (p.Thr3911Pro)
c.11716A>C (p.Thr3906Pro)
c.11713A>C (p.Thr3905Pro)
c.340A>C
c.5100A>C
c.11698A>C (p.Thr3900Pro)
c.11728A>C (p.Thr3910Pro)
 gnomAD v4
19g.38543388A>GCA057560RYR1c.141A>G
c.123A>G
c.11731A>G (p.Thr3911Ala)
c.11716A>G (p.Thr3906Ala)
c.11713A>G (p.Thr3905Ala)
c.340A>G
c.5100A>G
c.11698A>G (p.Thr3900Ala)
c.11728A>G (p.Thr3910Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543388A>TCA405661228RYR1c.141A>T
c.123A>T
c.11731A>T (p.Thr3911Ser)
c.11716A>T (p.Thr3906Ser)
c.11713A>T (p.Thr3905Ser)
c.340A>T
c.5100A>T
c.11698A>T (p.Thr3900Ser)
c.11728A>T (p.Thr3910Ser)
19g.38543389C>ACA405661231RYR1c.142C>A
c.124C>A
c.11732C>A (p.Thr3911Asn)
c.11717C>A (p.Thr3906Asn)
c.11714C>A (p.Thr3905Asn)
c.341C>A
c.5101C>A
c.11699C>A (p.Thr3900Asn)
c.11729C>A (p.Thr3910Asn)
19g.38543389C>GCA405661233RYR1c.142C>G
c.124C>G
c.11732C>G (p.Thr3911Ser)
c.11717C>G (p.Thr3906Ser)
c.11714C>G (p.Thr3905Ser)
c.341C>G
c.5101C>G
c.11699C>G (p.Thr3900Ser)
c.11729C>G (p.Thr3910Ser)
19g.38543389C>TCA405661235RYR1c.142C>T
c.124C>T
c.11732C>T (p.Thr3911Ile)
c.11717C>T (p.Thr3906Ile)
c.11714C>T (p.Thr3905Ile)
c.341C>T
c.5101C>T
c.11699C>T (p.Thr3900Ile)
c.11729C>T (p.Thr3910Ile)
 COSMIC
19g.38543390T>ACA507354630RYR1c.143T>A
c.125T>A
c.11733T>A (p.Thr3911=)
c.11718T>A (p.Thr3906=)
c.11715T>A (p.Thr3905=)
c.342T>A
c.5102T>A
c.11700T>A (p.Thr3900=)
c.11730T>A (p.Thr3910=)
19g.38543390T>CCA507354632RYR1c.143T>C
c.125T>C
c.11733T>C (p.Thr3911=)
c.11718T>C (p.Thr3906=)
c.11715T>C (p.Thr3905=)
c.342T>C
c.5102T>C
c.11700T>C (p.Thr3900=)
c.11730T>C (p.Thr3910=)
19g.38543390T>GCA507354633RYR1c.143T>G
c.125T>G
c.11733T>G (p.Thr3911=)
c.11718T>G (p.Thr3906=)
c.11715T>G (p.Thr3905=)
c.342T>G
c.5102T>G
c.11700T>G (p.Thr3900=)
c.11730T>G (p.Thr3910=)
 gnomAD v4
19g.38543391A=CA2335074320RYR1c.144A=
c.126A=
c.11734A= (p.Ile3912=)
c.11719A= (p.Ile3907=)
c.11716A= (p.Ile3906=)
c.343A=
c.5103A=
c.11701A= (p.Ile3901=)
c.11731A= (p.Ile3911=)
19g.38543391A>CCA405661239RYR1c.144A>C
c.126A>C
c.11734A>C (p.Ile3912Leu)
c.11719A>C (p.Ile3907Leu)
c.11716A>C (p.Ile3906Leu)
c.343A>C
c.5103A>C
c.11701A>C (p.Ile3901Leu)
c.11731A>C (p.Ile3911Leu)
19g.38543391A>GCA080416RYR1c.144A>G
c.126A>G
c.11734A>G (p.Ile3912Val)
c.11719A>G (p.Ile3907Val)
c.11716A>G (p.Ile3906Val)
c.343A>G
c.5103A>G
c.11701A>G (p.Ile3901Val)
c.11731A>G (p.Ile3911Val)
 dbSNP gnomAD v4
19g.38543391A>TCA405661237RYR1c.144A>T
c.126A>T
c.11734A>T (p.Ile3912Phe)
c.11719A>T (p.Ile3907Phe)
c.11716A>T (p.Ile3906Phe)
c.343A>T
c.5103A>T
c.11701A>T (p.Ile3901Phe)
c.11731A>T (p.Ile3911Phe)
19g.38543391_38543392delinsATCA2335074319RYR1c.144_145delinsAT
c.126_127delinsAT
c.11734_11735delinsAT (p.Ile3912=)
c.11719_11720delinsAT (p.Ile3907=)
c.11716_11717delinsAT (p.Ile3906=)
c.343_344delinsAT
c.5103_5104delinsAT
c.11701_11702delinsAT (p.Ile3901=)
c.11731_11732delinsAT (p.Ile3911=)
19g.38543392T>ACA10652420RYR1c.145T>A
c.127T>A
c.11735T>A (p.Ile3912Asn)
c.11720T>A (p.Ile3907Asn)
c.11717T>A (p.Ile3906Asn)
c.344T>A
c.5104T>A
c.11702T>A (p.Ile3901Asn)
c.11732T>A (p.Ile3911Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38543392T>CCA405661242RYR1c.145T>C
c.127T>C
c.11735T>C (p.Ile3912Thr)
c.11720T>C (p.Ile3907Thr)
c.11717T>C (p.Ile3906Thr)
c.344T>C
c.5104T>C
c.11702T>C (p.Ile3901Thr)
c.11732T>C (p.Ile3911Thr)
19g.38543392T>GCA405661244RYR1c.145T>G
c.127T>G
c.11735T>G (p.Ile3912Ser)
c.11720T>G (p.Ile3907Ser)
c.11717T>G (p.Ile3906Ser)
c.344T>G
c.5104T>G
c.11702T>G (p.Ile3901Ser)
c.11732T>G (p.Ile3911Ser)
19g.38543392T=CA2335074321RYR1c.145T=
c.127T=
c.11735T= (p.Ile3912=)
c.11720T= (p.Ile3907=)
c.11717T= (p.Ile3906=)
c.344T=
c.5104T=
c.11702T= (p.Ile3901=)
c.11732T= (p.Ile3911=)
19g.38543393delCA633066749RYR1c.146del
c.128del
c.11736del (p.Asn3913ThrfsTer?)
c.11721del (p.Asn3908ThrfsTer?)
c.11718del (p.Asn3907ThrfsTer?)
c.345del
c.5105del
c.11703del (p.Asn3902ThrfsTer?)
c.11733del (p.Asn3912ThrfsTer?)
 dbSNP gnomAD v2
19g.38543393T>ACA507354635RYR1c.146T>A
c.128T>A
c.11736T>A (p.Ile3912=)
c.11721T>A (p.Ile3907=)
c.11718T>A (p.Ile3906=)
c.345T>A
c.5105T>A
c.11703T>A (p.Ile3901=)
c.11733T>A (p.Ile3911=)
19g.38543393T>CCA507354636RYR1c.146T>C
c.128T>C
c.11736T>C (p.Ile3912=)
c.11721T>C (p.Ile3907=)
c.11718T>C (p.Ile3906=)
c.345T>C
c.5105T>C
c.11703T>C (p.Ile3901=)
c.11733T>C (p.Ile3911=)
19g.38543393T>GCA405661247RYR1c.146T>G
c.128T>G
c.11736T>G (p.Ile3912Met)
c.11721T>G (p.Ile3907Met)
c.11718T>G (p.Ile3906Met)
c.345T>G
c.5105T>G
c.11703T>G (p.Ile3901Met)
c.11733T>G (p.Ile3911Met)
19g.38543394A>CCA405661249RYR1c.147A>C
c.129A>C
c.11737A>C (p.Asn3913His)
c.11722A>C (p.Asn3908His)
c.11719A>C (p.Asn3907His)
c.346A>C
c.5106A>C
c.11704A>C (p.Asn3902His)
c.11734A>C (p.Asn3912His)
19g.38543394A>GCA405661253RYR1c.147A>G
c.129A>G
c.11737A>G (p.Asn3913Asp)
c.11722A>G (p.Asn3908Asp)
c.11719A>G (p.Asn3907Asp)
c.346A>G
c.5106A>G
c.11704A>G (p.Asn3902Asp)
c.11734A>G (p.Asn3912Asp)
19g.38543394A>TCA405661256RYR1c.147A>T
c.129A>T
c.11737A>T (p.Asn3913Tyr)
c.11722A>T (p.Asn3908Tyr)
c.11719A>T (p.Asn3907Tyr)
c.346A>T
c.5106A>T
c.11704A>T (p.Asn3902Tyr)
c.11734A>T (p.Asn3912Tyr)
19g.38543395A>CCA405661259RYR1c.148A>C
c.130A>C
c.11738A>C (p.Asn3913Thr)
c.11723A>C (p.Asn3908Thr)
c.11720A>C (p.Asn3907Thr)
c.347A>C
c.5107A>C
c.11705A>C (p.Asn3902Thr)
c.11735A>C (p.Asn3912Thr)
19g.38543395A>GCA405661260RYR1c.148A>G
c.130A>G
c.11738A>G (p.Asn3913Ser)
c.11723A>G (p.Asn3908Ser)
c.11720A>G (p.Asn3907Ser)
c.347A>G
c.5107A>G
c.11705A>G (p.Asn3902Ser)
c.11735A>G (p.Asn3912Ser)
19g.38543395A>TCA405661261RYR1c.148A>T
c.130A>T
c.11738A>T (p.Asn3913Ile)
c.11723A>T (p.Asn3908Ile)
c.11720A>T (p.Asn3907Ile)
c.347A>T
c.5107A>T
c.11705A>T (p.Asn3902Ile)
c.11735A>T (p.Asn3912Ile)
19g.38543395_38543398delinsACATCA2335074322RYR1c.148_151delinsACAT
c.130_133delinsACAT
c.11738_11741delinsACAT (p.Asn3913=)
c.11723_11726delinsACAT (p.Asn3908=)
c.11720_11723delinsACAT (p.Asn3907=)
c.347_350delinsACAT
c.5107_5110delinsACAT
c.11705_11708delinsACAT (p.Asn3902=)
c.11735_11738delinsACAT (p.Asn3912=)
19g.38543396C>ACA405661262RYR1c.149C>A
c.131C>A
c.11739C>A (p.Asn3913Lys)
c.11724C>A (p.Asn3908Lys)
c.11721C>A (p.Asn3907Lys)
c.348C>A
c.5108C>A
c.11706C>A (p.Asn3902Lys)
c.11736C>A (p.Asn3912Lys)
19g.38543396C=CA2335074324RYR1c.149C=
c.131C=
c.11739C= (p.Asn3913=)
c.11724C= (p.Asn3908=)
c.11721C= (p.Asn3907=)
c.348C=
c.5108C=
c.11706C= (p.Asn3902=)
c.11736C= (p.Asn3912=)
19g.38543396C>GCA405661263RYR1c.149C>G
c.131C>G
c.11739C>G (p.Asn3913Lys)
c.11724C>G (p.Asn3908Lys)
c.11721C>G (p.Asn3907Lys)
c.348C>G
c.5108C>G
c.11706C>G (p.Asn3902Lys)
c.11736C>G (p.Asn3912Lys)
19g.38543396C>TCA057572RYR1c.149C>T
c.131C>T
c.11739C>T (p.Asn3913=)
c.11724C>T (p.Asn3908=)
c.11721C>T (p.Asn3907=)
c.348C>T
c.5108C>T
c.11706C>T (p.Asn3902=)
c.11736C>T (p.Asn3912=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543402_38543404delCA2335074323RYR1c.155_157del
c.137_139del
c.11745_11747del (p.Ile3916del)
c.11730_11732del (p.Ile3911del)
c.11727_11729del (p.Ile3910del)
c.354_356del
c.5114_5116del
c.11712_11714del (p.Ile3905del)
c.11742_11744del (p.Ile3915del)
 dbSNP gnomAD v4
19g.38543397A>CCA405661264RYR1c.150A>C
c.132A>C
c.11740A>C (p.Ile3914Leu)
c.11725A>C (p.Ile3909Leu)
c.11722A>C (p.Ile3908Leu)
c.349A>C
c.5109A>C
c.11707A>C (p.Ile3903Leu)
c.11737A>C (p.Ile3913Leu)
19g.38543397A>GCA405661265RYR1c.150A>G
c.132A>G
c.11740A>G (p.Ile3914Val)
c.11725A>G (p.Ile3909Val)
c.11722A>G (p.Ile3908Val)
c.349A>G
c.5109A>G
c.11707A>G (p.Ile3903Val)
c.11737A>G (p.Ile3913Val)
19g.38543397A>TCA405661266RYR1c.150A>T
c.132A>T
c.11740A>T (p.Ile3914Phe)
c.11725A>T (p.Ile3909Phe)
c.11722A>T (p.Ile3908Phe)
c.349A>T
c.5109A>T
c.11707A>T (p.Ile3903Phe)
c.11737A>T (p.Ile3913Phe)
19g.38543398T>ACA405661270RYR1c.151T>A
c.133T>A
c.11741T>A (p.Ile3914Asn)
c.11726T>A (p.Ile3909Asn)
c.11723T>A (p.Ile3908Asn)
c.350T>A
c.5110T>A
c.11708T>A (p.Ile3903Asn)
c.11738T>A (p.Ile3913Asn)
19g.38543398T>CCA405661272RYR1c.151T>C
c.133T>C
c.11741T>C (p.Ile3914Thr)
c.11726T>C (p.Ile3909Thr)
c.11723T>C (p.Ile3908Thr)
c.350T>C
c.5110T>C
c.11708T>C (p.Ile3903Thr)
c.11738T>C (p.Ile3913Thr)
 gnomAD v4
19g.38543398T>GCA405661269RYR1c.151T>G
c.133T>G
c.11741T>G (p.Ile3914Ser)
c.11726T>G (p.Ile3909Ser)
c.11723T>G (p.Ile3908Ser)
c.350T>G
c.5110T>G
c.11708T>G (p.Ile3903Ser)
c.11738T>G (p.Ile3913Ser)
19g.38543399C>ACA507354640RYR1c.152C>A
c.134C>A
c.11742C>A (p.Ile3914=)
c.11727C>A (p.Ile3909=)
c.11724C>A (p.Ile3908=)
c.351C>A
c.5111C>A
c.11709C>A (p.Ile3903=)
c.11739C>A (p.Ile3913=)
19g.38543399C=CA2335074325RYR1c.152C=
c.134C=
c.11742C= (p.Ile3914=)
c.11727C= (p.Ile3909=)
c.11724C= (p.Ile3908=)
c.351C=
c.5111C=
c.11709C= (p.Ile3903=)
c.11739C= (p.Ile3913=)
19g.38543399C>GCA405661275RYR1c.152C>G
c.134C>G
c.11742C>G (p.Ile3914Met)
c.11727C>G (p.Ile3909Met)
c.11724C>G (p.Ile3908Met)
c.351C>G
c.5111C>G
c.11709C>G (p.Ile3903Met)
c.11739C>G (p.Ile3913Met)
 ClinVar gnomAD v4
19g.38543399C>TCA080417RYR1c.152C>T
c.134C>T
c.11742C>T (p.Ile3914=)
c.11727C>T (p.Ile3909=)
c.11724C>T (p.Ile3908=)
c.351C>T
c.5111C>T
c.11709C>T (p.Ile3903=)
c.11739C>T (p.Ile3913=)
 dbSNP
19g.38543400A>CCA405661278RYR1c.153A>C
c.135A>C
c.11743A>C (p.Ile3915Leu)
c.11728A>C (p.Ile3910Leu)
c.11725A>C (p.Ile3909Leu)
c.352A>C
c.5112A>C
c.11710A>C (p.Ile3904Leu)
c.11740A>C (p.Ile3914Leu)
19g.38543400A>GCA405661280RYR1c.153A>G
c.135A>G
c.11743A>G (p.Ile3915Val)
c.11728A>G (p.Ile3910Val)
c.11725A>G (p.Ile3909Val)
c.352A>G
c.5112A>G
c.11710A>G (p.Ile3904Val)
c.11740A>G (p.Ile3914Val)
19g.38543400A>TCA405661282RYR1c.153A>T
c.135A>T
c.11743A>T (p.Ile3915Phe)
c.11728A>T (p.Ile3910Phe)
c.11725A>T (p.Ile3909Phe)
c.352A>T
c.5112A>T
c.11710A>T (p.Ile3904Phe)
c.11740A>T (p.Ile3914Phe)
19g.38543400_38543401delinsATCA2335074326RYR1c.153_154delinsAT
c.135_136delinsAT
c.11743_11744delinsAT (p.Ile3915=)
c.11728_11729delinsAT (p.Ile3910=)
c.11725_11726delinsAT (p.Ile3909=)
c.352_353delinsAT
c.5112_5113delinsAT
c.11710_11711delinsAT (p.Ile3904=)
c.11740_11741delinsAT (p.Ile3914=)

Number of alleles fetched